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_154031249delCA2573159363MECP2c.580_1191del (p.Ser194_Glu397del)
c.616_1227del (p.Ser206_Glu409del)
c.507_*563del (n.[c.507_*563del;Ala170ThrfsTer?])
c.471_*563del (n.[c.471_*563del;Ala158ThrfsTer11])
c.301_912del (p.Ser101_Glu304del)
c.-90_522del
ClinVar dbSNP
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.154030705_154031212delinsACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCA2466570569MECP2c.616_1123delinsGGTGTGCAGGTGAAAAGGGTCCTGGAGAAAAGTCCTGGGAAGCTCCTTGTCAAGATGCCTTTTCAAACTTCGCCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCAGGAAGCGAAAAGCTGAGGCCGACCCTCAGGCCATTCCCAAGAAACGGGGCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGT (p.Gly206=)
c.652_1159delinsGGTGTGCAGGTGAAAAGGGTCCTGGAGAAAAGTCCTGGGAAGCTCCTTGTCAAGATGCCTTTTCAAACTTCGCCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCAGGAAGCGAAAAGCTGAGGCCGACCCTCAGGCCATTCCCAAGAAACGGGGCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGT (p.Gly218=)
c.543_*495delinsGGTGTGCAGGTGAAAAGGGTCCTGGAGAAAAGTCCTGGGAAGCTCCTTGTCAAGATGCCTTTTCAAACTTCGCCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCAGGAAGCGAAAAGCTGAGGCCGACCCTCAGGCCATTCCCAAGAAACGGGGCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGT (n.[c.543_*495delinsGGTGTGCAGGTGAAAAGGGTCCTGGAGAAAAGTCCTGGGAAGCTCCTTGTCAAGATGCCTTTTCAAACTTCGCCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCAGGAAGCGAAAAGCTGAGGCCGACCCTCAGGCCATTCCCAAGAAACGGGGCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGT;Arg181=])
c.507_*495delinsGGTGTGCAGGTGAAAAGGGTCCTGGAGAAAAGTCCTGGGAAGCTCCTTGTCAAGATGCCTTTTCAAACTTCGCCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCAGGAAGCGAAAAGCTGAGGCCGACCCTCAGGCCATTCCCAAGAAACGGGGCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGT (n.[c.507_*495delinsGGTGTGCAGGTGAAAAGGGTCCTGGAGAAAAGTCCTGGGAAGCTCCTTGTCAAGATGCCTTTTCAAACTTCGCCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCAGGAAGCGAAAAGCTGAGGCCGACCCTCAGGCCATTCCCAAGAAACGGGGCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGT;Arg169=])
c.337_844delinsGGTGTGCAGGTGAAAAGGGTCCTGGAGAAAAGTCCTGGGAAGCTCCTTGTCAAGATGCCTTTTCAAACTTCGCCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCAGGAAGCGAAAAGCTGAGGCCGACCCTCAGGCCATTCCCAAGAAACGGGGCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGT (p.Gly113=)
c.-54_454delinsGGTGTGCAGGTGAAAAGGGTCCTGGAGAAAAGTCCTGGGAAGCTCCTTGTCAAGATGCCTTTTCAAACTTCGCCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCAGGAAGCGAAAAGCTGAGGCCGACCCTCAGGCCATTCCCAAGAAACGGGGCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGT
Xg.154030712_154031218delCA274597MECP2c.616_1122del (p.Gly206_Glu374del)
c.652_1158del (p.Gly218_Glu386del)
c.543_*494del (n.[c.543_*494del;Arg181SerfsTer?])
c.507_*494del (n.[c.507_*494del;Arg169SerfsTer?])
c.337_843del (p.Gly113_Glu281del)
c.-54_453del
ClinVar dbSNP
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.154031170_154031197delinsGCTTCCCAGGACTTTTCTCCAGGACCCTCA2466570855MECP2c.631_658delinsAGGGTCCTGGAGAAAAGTCCTGGGAAGC (p.Arg211=)
c.667_694delinsAGGGTCCTGGAGAAAAGTCCTGGGAAGC (p.Arg223=)
c.65+199_65+226delinsAGGGTCCTGGAGAAAAGTCCTGGGAAGC
c.*3_*30delinsAGGGTCCTGGAGAAAAGTCCTGGGAAGC (n.*3_*30delinsAGGGTCCTGGAGAAAAGTCCTGGGAAGC)
c.619_646delinsAGGGTCCTGGAGAAAAGTCCTGGGAAGC (p.Arg207=)
c.352_379delinsAGGGTCCTGGAGAAAAGTCCTGGGAAGC (p.Arg118=)
c.-39_-12delinsAGGGTCCTGGAGAAAAGTCCTGGGAAGC (n.-39_-12delinsAGGGTCCTGGAGAAAAGTCCTGGGAAGC)
Xg.154031171_154031197delCA337264101MECP2c.631_657del (p.Arg211_Lys219del)
c.667_693del (p.Arg223_Lys231del)
c.65+199_65+225del
c.*3_*29del (n.*3_*29del)
c.619_645del (p.Arg207_Lys215del)
c.352_378del (p.Arg118_Lys126del)
c.-39_-13del (n.-39_-13del)
dbSNP
Xg.154031172_154031193delinsTTCCCAGGACTTTTCTCCAGGACA2466570858MECP2c.635_656delinsTCCTGGAGAAAAGTCCTGGGAA (p.Val212=)
c.671_692delinsTCCTGGAGAAAAGTCCTGGGAA (p.Val224=)
c.65+203_65+224delinsTCCTGGAGAAAAGTCCTGGGAA
c.*7_*28delinsTCCTGGAGAAAAGTCCTGGGAA (n.*7_*28delinsTCCTGGAGAAAAGTCCTGGGAA)
c.623_644delinsTCCTGGAGAAAAGTCCTGGGAA (p.Val208=)
c.356_377delinsTCCTGGAGAAAAGTCCTGGGAA (p.Val119=)
c.-35_-14delinsTCCTGGAGAAAAGTCCTGGGAA (n.-35_-14delinsTCCTGGAGAAAAGTCCTGGGAA)
Xg.154031173_154031193delCA270492MECP2c.635_655del (p.Val212_Lys219delinsGlu)
c.671_691del (p.Val224_Lys231delinsGlu)
c.65+203_65+223del
c.*7_*27del (n.*7_*27del)
c.623_643del (p.Val208_Lys215delinsGlu)
c.356_376del (p.Val119_Lys126delinsGlu)
c.-35_-15del (n.-35_-15del)
ClinVar dbSNP
Xg.154031175_154031204delCA2695237698MECP2c.625_654del (p.Val209_Gly218del)
c.661_690del (p.Val221_Gly230del)
c.65+193_65+222del
c.552_*26del (n.[c.552_*26del;Ter185SerextTer29])
c.613_642del (p.Val205_Gly214del)
c.516_*26del (n.[c.516_*26del;Ter173SerextTer29])
c.346_375del (p.Val116_Gly125del)
c.-45_-16del (n.-45_-16del)
Xg.154031182_154031194delCA232990MECP2c.641_653del (p.Glu214GlyfsTer30)
c.677_689del (p.Glu226GlyfsTer30)
c.65+209_65+221del
c.*13_*25del (n.*13_*25del)
c.629_641del (p.Glu210GlyfsTer30)
c.362_374del (p.Glu121GlyfsTer30)
c.-29_-17del (n.-29_-17del)
ClinVar dbSNP
Xg.154031189C>ACA519705515MECP2c.639G>T (p.Leu213=)
c.675G>T (p.Leu225=)
c.65+207G>T
c.*11G>T (n.*11G>T)
c.627G>T (p.Leu209=)
c.360G>T (p.Leu120=)
c.-31G>T (n.-31G>T)
Xg.154031189C=CA2466570867MECP2c.639G= (p.Leu213=)
c.675G= (p.Leu225=)
c.65+207G=
c.*11G= (n.*11G=)
c.627G= (p.Leu209=)
c.360G= (p.Leu120=)
c.-31G= (n.-31G=)
Xg.154031189C>GCA519705516MECP2c.639G>C (p.Leu213=)
c.675G>C (p.Leu225=)
c.65+207G>C
c.*11G>C (n.*11G>C)
c.627G>C (p.Leu209=)
c.360G>C (p.Leu120=)
c.-31G>C (n.-31G>C)
ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.154031189C>TCA519705517MECP2c.639G>A (p.Leu213=)
c.675G>A (p.Leu225=)
c.65+207G>A
c.*11G>A (n.*11G>A)
c.627G>A (p.Leu209=)
c.360G>A (p.Leu120=)
c.-31G>A (n.-31G>A)
gnomAD v4
Xg.154031190A>CCA415172906MECP2c.638T>G (p.Leu213Arg)
c.674T>G (p.Leu225Arg)
c.65+206T>G
c.*10T>G (n.*10T>G)
c.626T>G (p.Leu209Arg)
c.359T>G (p.Leu120Arg)
c.-32T>G (n.-32T>G)
gnomAD v4
Xg.154031190A>GCA415172907MECP2c.638T>C (p.Leu213Pro)
c.674T>C (p.Leu225Pro)
c.65+206T>C
c.*10T>C (n.*10T>C)
c.626T>C (p.Leu209Pro)
c.359T>C (p.Leu120Pro)
c.-32T>C (n.-32T>C)
Xg.154031190A>TCA415172910MECP2c.638T>A (p.Leu213Gln)
c.674T>A (p.Leu225Gln)
c.65+206T>A
c.*10T>A (n.*10T>A)
c.626T>A (p.Leu209Gln)
c.359T>A (p.Leu120Gln)
c.-32T>A (n.-32T>A)
Xg.154031190dupCA2499226476MECP2c.638dup (p.Glu214GlyfsTer22)
c.674dup (p.Glu226GlyfsTer22)
c.65+206dup
c.*10dup (n.*10dup)
c.626dup (p.Glu210GlyfsTer22)
c.359dup (p.Glu121GlyfsTer22)
c.-32dup (n.-32dup)
ClinVar dbSNP
Xg.154031191G>ACA519705518MECP2c.637C>T (p.Leu213=)
c.673C>T (p.Leu225=)
c.65+205C>T
c.*9C>T (n.*9C>T)
c.625C>T (p.Leu209=)
c.358C>T (p.Leu120=)
c.-33C>T (n.-33C>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.154031191G>CCA10558575MECP2c.637C>G (p.Leu213Val)
c.673C>G (p.Leu225Val)
c.65+205C>G
c.*9C>G (n.*9C>G)
c.625C>G (p.Leu209Val)
c.358C>G (p.Leu120Val)
c.-33C>G (n.-33C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031191G=CA2466570868MECP2c.637C= (p.Leu213=)
c.673C= (p.Leu225=)
c.65+205C=
c.*9C= (n.*9C=)
c.625C= (p.Leu209=)
c.358C= (p.Leu120=)
c.-33C= (n.-33C=)
Xg.154031191G>TCA415172912MECP2c.637C>A (p.Leu213Met)
c.673C>A (p.Leu225Met)
c.65+205C>A
c.*9C>A (n.*9C>A)
c.625C>A (p.Leu209Met)
c.358C>A (p.Leu120Met)
c.-33C>A (n.-33C>A)
Xg.154031192G>ACA519705522MECP2c.636C>T (p.Val212=)
c.672C>T (p.Val224=)
c.65+204C>T
c.*8C>T (n.*8C>T)
c.624C>T (p.Val208=)
c.357C>T (p.Val119=)
c.-34C>T (n.-34C>T)
ClinVar dbSNP gnomAD v4
Xg.154031192G>CCA519705519MECP2c.636C>G (p.Val212=)
c.672C>G (p.Val224=)
c.65+204C>G
c.*8C>G (n.*8C>G)
c.624C>G (p.Val208=)
c.357C>G (p.Val119=)
c.-34C>G (n.-34C>G)
Xg.154031192G=CA2466570869MECP2c.636C= (p.Val212=)
c.672C= (p.Val224=)
c.65+204C=
c.*8C= (n.*8C=)
c.624C= (p.Val208=)
c.357C= (p.Val119=)
c.-34C= (n.-34C=)
Xg.154031192G>TCA519705520MECP2c.636C>A (p.Val212=)
c.672C>A (p.Val224=)
c.65+204C>A
c.*8C>A (n.*8C>A)
c.624C>A (p.Val208=)
c.357C>A (p.Val119=)
c.-34C>A (n.-34C>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.154031193A=CA2466570870MECP2c.635T= (p.Val212=)
c.671T= (p.Val224=)
c.65+203T=
c.*7T= (n.*7T=)
c.623T= (p.Val208=)
c.356T= (p.Val119=)
c.-35T= (n.-35T=)
Xg.154031193A>CCA415172918MECP2c.635T>G (p.Val212Gly)
c.671T>G (p.Val224Gly)
c.65+203T>G
c.*7T>G (n.*7T>G)
c.623T>G (p.Val208Gly)
c.356T>G (p.Val119Gly)
c.-35T>G (n.-35T>G)
COSMIC
Xg.154031193A>GCA415172921MECP2c.635T>C (p.Val212Ala)
c.671T>C (p.Val224Ala)
c.65+203T>C
c.*7T>C (n.*7T>C)
c.623T>C (p.Val208Ala)
c.356T>C (p.Val119Ala)
c.-35T>C (n.-35T>C)
Xg.154031193A>TCA415172922MECP2c.635T>A (p.Val212Asp)
c.671T>A (p.Val224Asp)
c.65+203T>A
c.*7T>A (n.*7T>A)
c.623T>A (p.Val208Asp)
c.356T>A (p.Val119Asp)
c.-35T>A (n.-35T>A)
ClinVar dbSNP
Xg.154031193_154031194delinsACCA2466570871MECP2c.634_635delinsGT (p.Val212=)
c.670_671delinsGT (p.Val224=)
c.65+202_65+203delinsGT
c.*6_*7delinsGT (n.*6_*7delinsGT)
c.622_623delinsGT (p.Val208=)
c.355_356delinsGT (p.Val119=)
c.-36_-35delinsGT (n.-36_-35delinsGT)
Xg.154031194C>ACA415172923MECP2c.634G>T (p.Val212Phe)
c.670G>T (p.Val224Phe)
c.65+202G>T
c.*6G>T (n.*6G>T)
c.622G>T (p.Val208Phe)
c.355G>T (p.Val119Phe)
c.-36G>T (n.-36G>T)
ClinVar dbSNP
Xg.154031194C=CA2466570873MECP2c.634G= (p.Val212=)
c.670G= (p.Val224=)
c.65+202G=
c.*6G= (n.*6G=)
c.622G= (p.Val208=)
c.355G= (p.Val119=)
c.-36G= (n.-36G=)
Xg.154031194C>GCA415172924MECP2c.634G>C (p.Val212Leu)
c.670G>C (p.Val224Leu)
c.65+202G>C
c.*6G>C (n.*6G>C)
c.622G>C (p.Val208Leu)
c.355G>C (p.Val119Leu)
c.-36G>C (n.-36G>C)
Xg.154031194C>TCA415172925MECP2c.634G>A (p.Val212Ile)
c.670G>A (p.Val224Ile)
c.65+202G>A
c.*6G>A (n.*6G>A)
c.622G>A (p.Val208Ile)
c.355G>A (p.Val119Ile)
c.-36G>A (n.-36G>A)
Xg.154031196delCA916084017MECP2c.634del (p.Val212SerfsTer?)
c.670del (p.Val224SerfsTer?)
c.65+202del
c.*6del (n.*6del)
c.622del (p.Val208SerfsTer?)
c.355del (p.Val119SerfsTer?)
c.-36del (n.-36del)
ClinVar dbSNP
Xg.154031194_154031198delinsCCCTTCA2466570872MECP2c.630_634delinsAAGGG (p.Lys210=)
c.666_670delinsAAGGG (p.Lys222=)
c.65+198_65+202delinsAAGGG
c.*2_*6delinsAAGGG (n.*2_*6delinsAAGGG)
c.618_622delinsAAGGG (p.Lys206=)
c.351_355delinsAAGGG (p.Lys117=)
c.-40_-36delinsAAGGG (n.-40_-36delinsAAGGG)
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)
ClinVar
Xg.154031195C>ACA415172926MECP2c.633G>T (p.Arg211Ser)
c.669G>T (p.Arg223Ser)
c.65+201G>T
c.*5G>T (n.*5G>T)
c.621G>T (p.Arg207Ser)
c.354G>T (p.Arg118Ser)
c.-37G>T (n.-37G>T)
ClinVar dbSNP gnomAD v4
Xg.154031195C=CA2466570874MECP2c.633G= (p.Arg211=)
c.669G= (p.Arg223=)
c.65+201G=
c.*5G= (n.*5G=)
c.621G= (p.Arg207=)
c.354G= (p.Arg118=)
c.-37G= (n.-37G=)
Xg.154031195C>GCA170349MECP2c.633G>C (p.Arg211Ser)
c.669G>C (p.Arg223Ser)
c.65+201G>C
c.*5G>C (n.*5G>C)
c.621G>C (p.Arg207Ser)
c.354G>C (p.Arg118Ser)
c.-37G>C (n.-37G>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031195C>TCA519705533MECP2c.633G>A (p.Arg211=)
c.669G>A (p.Arg223=)
c.65+201G>A
c.*5G>A (n.*5G>A)
c.621G>A (p.Arg207=)
c.354G>A (p.Arg118=)
c.-37G>A (n.-37G>A)
Xg.154031195_154031198delCA519705537MECP2c.630_633del (p.Arg211SerfsTer?)
c.666_669del (p.Arg223SerfsTer?)
c.65+198_65+201del
c.*2_*5del (n.*2_*5del)
c.618_621del (p.Arg207SerfsTer?)
c.351_354del (p.Arg118SerfsTer?)
c.-40_-37del (n.-40_-37del)
dbSNP
Xg.154031196C>ACA415172928MECP2c.632G>T (p.Arg211Met)
c.668G>T (p.Arg223Met)
c.65+200G>T
c.*4G>T (n.*4G>T)
c.620G>T (p.Arg207Met)
c.353G>T (p.Arg118Met)
c.-38G>T (n.-38G>T)
dbSNP
Xg.154031196C>GCA415172930MECP2c.632G>C (p.Arg211Thr)
c.668G>C (p.Arg223Thr)
c.65+200G>C
c.*4G>C (n.*4G>C)
c.620G>C (p.Arg207Thr)
c.353G>C (p.Arg118Thr)
c.-38G>C (n.-38G>C)
Xg.154031196C>TCA415172932MECP2c.632G>A (p.Arg211Lys)
c.668G>A (p.Arg223Lys)
c.65+200G>A
c.*4G>A (n.*4G>A)
c.620G>A (p.Arg207Lys)
c.353G>A (p.Arg118Lys)
c.-38G>A (n.-38G>A)
Xg.154031197T>ACA415172937MECP2c.631A>T (p.Arg211Trp)
c.667A>T (p.Arg223Trp)
c.65+199A>T
c.*3A>T (n.*3A>T)
c.619A>T (p.Arg207Trp)
c.352A>T (p.Arg118Trp)
c.-39A>T (n.-39A>T)
Xg.154031197T>CCA415172935MECP2c.631A>G (p.Arg211Gly)
c.667A>G (p.Arg223Gly)
c.65+199A>G
c.*3A>G (n.*3A>G)
c.619A>G (p.Arg207Gly)
c.352A>G (p.Arg118Gly)
c.-39A>G (n.-39A>G)
dbSNP gnomAD v2 gnomAD v4
Xg.154031197T>GCA519705546MECP2c.631A>C (p.Arg211=)
c.667A>C (p.Arg223=)
c.65+199A>C
c.*3A>C (n.*3A>C)
c.619A>C (p.Arg207=)
c.352A>C (p.Arg118=)
c.-39A>C (n.-39A>C)
Xg.154031197T=CA2466570875MECP2c.631A= (p.Arg211=)
c.667A= (p.Arg223=)
c.65+199A=
c.*3A= (n.*3A=)
c.619A= (p.Arg207=)
c.352A= (p.Arg118=)
c.-39A= (n.-39A=)
Xg.154031198T>ACA415172941MECP2c.630A>T (p.Lys210Asn)
c.666A>T (p.Lys222Asn)
c.65+198A>T
c.*2A>T (n.*2A>T)
c.618A>T (p.Lys206Asn)
c.351A>T (p.Lys117Asn)
c.-40A>T (n.-40A>T)
Xg.154031198T>CCA519705548MECP2c.630A>G (p.Lys210=)
c.666A>G (p.Lys222=)
c.65+198A>G
c.*2A>G (n.*2A>G)
c.618A>G (p.Lys206=)
c.351A>G (p.Lys117=)
c.-40A>G (n.-40A>G)
gnomAD v4
Xg.154031198T>GCA415172943MECP2c.630A>C (p.Lys210Asn)
c.666A>C (p.Lys222Asn)
c.65+198A>C
c.*2A>C (n.*2A>C)
c.618A>C (p.Lys206Asn)
c.351A>C (p.Lys117Asn)
c.-40A>C (n.-40A>C)
Xg.154031199T>ACA270490MECP2c.629A>T (p.Lys210Ile)
c.665A>T (p.Lys222Ile)
c.65+197A>T
c.*1A>T (n.*1A>T)
c.617A>T (p.Lys206Ile)
c.350A>T (p.Lys117Ile)
c.-41A>T (n.-41A>T)
ClinVar dbSNP
Xg.154031199T>CCA415172947MECP2c.629A>G (p.Lys210Arg)
c.665A>G (p.Lys222Arg)
c.65+197A>G
c.*1A>G (n.*1A>G)
c.617A>G (p.Lys206Arg)
c.350A>G (p.Lys117Arg)
c.-41A>G (n.-41A>G)
Xg.154031199T>GCA415172949MECP2c.629A>C (p.Lys210Thr)
c.665A>C (p.Lys222Thr)
c.65+197A>C
c.*1A>C (n.*1A>C)
c.617A>C (p.Lys206Thr)
c.350A>C (p.Lys117Thr)
c.-41A>C (n.-41A>C)
Xg.154031199T=CA2466570876MECP2c.629A= (p.Lys210=)
c.665A= (p.Lys222=)
c.65+197A=
c.*1A= (n.*1A=)
c.617A= (p.Lys206=)
c.350A= (p.Lys117=)
c.-41A= (n.-41A=)
Xg.154031200T>ACA415172951MECP2c.628A>T (p.Lys210Ter)
c.664A>T (p.Lys222Ter)
c.65+196A>T
c.555A>T (p.Ter185Cys)
c.616A>T (p.Lys206Ter)
c.519A>T (p.Ter173Cys)
c.349A>T (p.Lys117Ter)
c.-42A>T (n.-42A>T)
Xg.154031200T>CCA10558576MECP2c.628A>G (p.Lys210Glu)
c.664A>G (p.Lys222Glu)
c.65+196A>G
c.555A>G (p.Ter185Trp)
c.616A>G (p.Lys206Glu)
c.519A>G (p.Ter173Trp)
c.349A>G (p.Lys117Glu)
c.-42A>G (n.-42A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031200T>GCA415172953MECP2c.628A>C (p.Lys210Gln)
c.664A>C (p.Lys222Gln)
c.65+196A>C
c.555A>C (p.Ter185Cys)
c.616A>C (p.Lys206Gln)
c.519A>C (p.Ter173Cys)
c.349A>C (p.Lys117Gln)
c.-42A>C (n.-42A>C)
Xg.154031200T=CA2466570877MECP2c.628A= (p.Lys210=)
c.664A= (p.Lys222=)
c.65+196A=
c.555A= (p.Ter185=)
c.616A= (p.Lys206=)
c.519A= (p.Ter173=)
c.349A= (p.Lys117=)
c.-42A= (n.-42A=)
Xg.154031201C>ACA415172955MECP2c.627G>T (p.Val209=)
c.663G>T (p.Val221=)
c.65+195G>T
c.554G>T (p.Ter185Leu)
c.615G>T (p.Val205=)
c.518G>T (p.Ter173Leu)
c.348G>T (p.Val116=)
c.-43G>T (n.-43G>T)
Xg.154031201C=CA2466570878MECP2c.627G= (p.Val209=)
c.663G= (p.Val221=)
c.65+195G=
c.554G= (p.Ter185=)
c.615G= (p.Val205=)
c.518G= (p.Ter173=)
c.348G= (p.Val116=)
c.-43G= (n.-43G=)
Xg.154031201C>GCA415172956MECP2c.627G>C (p.Val209=)
c.663G>C (p.Val221=)
c.65+195G>C
c.554G>C (p.Ter185Ser)
c.615G>C (p.Val205=)
c.518G>C (p.Ter173Ser)
c.348G>C (p.Val116=)
c.-43G>C (n.-43G>C)
Xg.154031201C>TCA199465MECP2c.627G>A (p.Val209=)
c.663G>A (p.Val221=)
c.65+195G>A
c.554G>A (p.Ter185=)
c.615G>A (p.Val205=)
c.518G>A (p.Ter173=)
c.348G>A (p.Val116=)
c.-43G>A (n.-43G>A)
ClinVar dbSNP
Xg.154031202A=CA2466570879MECP2c.626T= (p.Val209=)
c.662T= (p.Val221=)
c.65+194T=
c.553T= (p.Ter185=)
c.614T= (p.Val205=)
c.517T= (p.Ter173=)
c.347T= (p.Val116=)
c.-44T= (n.-44T=)
Xg.154031202A>CCA415172959MECP2c.626T>G (p.Val209Gly)
c.662T>G (p.Val221Gly)
c.65+194T>G
c.553T>G (p.Ter185Gly)
c.614T>G (p.Val205Gly)
c.517T>G (p.Ter173Gly)
c.347T>G (p.Val116Gly)
c.-44T>G (n.-44T>G)
Xg.154031202A>GCA415172960MECP2c.626T>C (p.Val209Ala)
c.662T>C (p.Val221Ala)
c.65+194T>C
c.553T>C (p.Ter185Arg)
c.614T>C (p.Val205Ala)
c.517T>C (p.Ter173Arg)
c.347T>C (p.Val116Ala)
c.-44T>C (n.-44T>C)
dbSNP
Xg.154031202A>TCA415172962MECP2c.626T>A (p.Val209Glu)
c.662T>A (p.Val221Glu)
c.65+194T>A
c.553T>A (p.Ter185Arg)
c.614T>A (p.Val205Glu)
c.517T>A (p.Ter173Arg)
c.347T>A (p.Val116Glu)
c.-44T>A (n.-44T>A)
Xg.154031203C>ACA415172963MECP2c.625G>T (p.Val209Leu)
c.661G>T (p.Val221Leu)
c.65+193G>T
c.552G>T (p.Arg184Ser)
c.613G>T (p.Val205Leu)
c.516G>T (p.Arg172Ser)
c.346G>T (p.Val116Leu)
c.-45G>T (n.-45G>T)
ClinVar dbSNP
Xg.154031203C=CA2466570880MECP2c.625G= (p.Val209=)
c.661G= (p.Val221=)
c.65+193G=
c.552G= (p.Arg184=)
c.613G= (p.Val205=)
c.516G= (p.Arg172=)
c.346G= (p.Val116=)
c.-45G= (n.-45G=)
Xg.154031203C>GCA415172966MECP2c.625G>C (p.Val209Leu)
c.661G>C (p.Val221Leu)
c.65+193G>C
c.552G>C (p.Arg184Ser)
c.613G>C (p.Val205Leu)
c.516G>C (p.Arg172Ser)
c.346G>C (p.Val116Leu)
c.-45G>C (n.-45G>C)
Xg.154031203C>TCA415172964MECP2c.625G>A (p.Val209Met)
c.661G>A (p.Val221Met)
c.65+193G>A
c.552G>A (p.Arg184=)
c.613G>A (p.Val205Met)
c.516G>A (p.Arg172=)
c.346G>A (p.Val116Met)
c.-45G>A (n.-45G>A)
Xg.154031204C>ACA415172968MECP2c.624G>T (p.Gln208His)
c.660G>T (p.Gln220His)
c.65+192G>T
c.551G>T (p.Arg184Met)
c.612G>T (p.Gln204His)
c.515G>T (p.Arg172Met)
c.345G>T (p.Gln115His)
c.-46G>T (n.-46G>T)
Xg.154031204C>GCA415172970MECP2c.624G>C (p.Gln208His)
c.660G>C (p.Gln220His)
c.65+192G>C
c.551G>C (p.Arg184Thr)
c.612G>C (p.Gln204His)
c.515G>C (p.Arg172Thr)
c.345G>C (p.Gln115His)
c.-46G>C (n.-46G>C)
Xg.154031204C>TCA415172971MECP2c.624G>A (p.Gln208=)
c.660G>A (p.Gln220=)
c.65+192G>A
c.551G>A (p.Arg184Lys)
c.612G>A (p.Gln204=)
c.515G>A (p.Arg172Lys)
c.345G>A (p.Gln115=)
c.-46G>A (n.-46G>A)
Xg.154031205T>ACA415172973MECP2c.623A>T (p.Gln208Leu)
c.659A>T (p.Gln220Leu)
c.65+191A>T
c.550A>T (p.Arg184Trp)
c.611A>T (p.Gln204Leu)
c.514A>T (p.Arg172Trp)
c.344A>T (p.Gln115Leu)
c.-47A>T (n.-47A>T)
Xg.154031205T>CCA415172974MECP2c.623A>G (p.Gln208Arg)
c.659A>G (p.Gln220Arg)
c.65+191A>G
c.550A>G (p.Arg184Gly)
c.611A>G (p.Gln204Arg)
c.514A>G (p.Arg172Gly)
c.344A>G (p.Gln115Arg)
c.-47A>G (n.-47A>G)
ClinVar dbSNP
Xg.154031205T>GCA415172975MECP2c.623A>C (p.Gln208Pro)
c.659A>C (p.Gln220Pro)
c.65+191A>C
c.550A>C (p.Arg184=)
c.611A>C (p.Gln204Pro)
c.514A>C (p.Arg172=)
c.344A>C (p.Gln115Pro)
c.-47A>C (n.-47A>C)
ClinVar
Xg.154031205T=CA2466570881MECP2c.623A= (p.Gln208=)
c.659A= (p.Gln220=)
c.65+191A=
c.550A= (p.Arg184=)
c.611A= (p.Gln204=)
c.514A= (p.Arg172=)
c.344A= (p.Gln115=)
c.-47A= (n.-47A=)
Xg.154031206G>ACA270487MECP2c.622C>T (p.Gln208Ter)
c.658C>T (p.Gln220Ter)
c.65+190C>T
c.549C>T (p.Cys183=)
c.610C>T (p.Gln204Ter)
c.513C>T (p.Cys171=)
c.343C>T (p.Gln115Ter)
c.-48C>T (n.-48C>T)
ClinVar dbSNP
Xg.154031206G>CCA415172977MECP2c.622C>G (p.Gln208Glu)
c.658C>G (p.Gln220Glu)
c.65+190C>G
c.549C>G (p.Cys183Trp)
c.610C>G (p.Gln204Glu)
c.513C>G (p.Cys171Trp)
c.343C>G (p.Gln115Glu)
c.-48C>G (n.-48C>G)
Xg.154031206G=CA2466570882MECP2c.622C= (p.Gln208=)
c.658C= (p.Gln220=)
c.65+190C=
c.549C= (p.Cys183=)
c.610C= (p.Gln204=)
c.513C= (p.Cys171=)
c.343C= (p.Gln115=)
c.-48C= (n.-48C=)
Xg.154031206G>TCA415172978MECP2c.622C>A (p.Gln208Lys)
c.658C>A (p.Gln220Lys)
c.65+190C>A
c.549C>A (p.Cys183Ter)
c.610C>A (p.Gln204Lys)
c.513C>A (p.Cys171Ter)
c.343C>A (p.Gln115Lys)
c.-48C>A (n.-48C>A)
COSMIC
Xg.154031207C>ACA415172982MECP2c.621G>T (p.Val207=)
c.657G>T (p.Val219=)
c.65+189G>T
c.548G>T (p.Cys183Phe)
c.609G>T (p.Val203=)
c.512G>T (p.Cys171Phe)
c.342G>T (p.Val114=)
c.-49G>T (n.-49G>T)
Xg.154031207C=CA2466570883MECP2c.621G= (p.Val207=)
c.657G= (p.Val219=)
c.65+189G=
c.548G= (p.Cys183=)
c.609G= (p.Val203=)
c.512G= (p.Cys171=)
c.342G= (p.Val114=)
c.-49G= (n.-49G=)
Xg.154031207C>GCA415172984MECP2c.621G>C (p.Val207=)
c.657G>C (p.Val219=)
c.65+189G>C
c.548G>C (p.Cys183Ser)
c.609G>C (p.Val203=)
c.512G>C (p.Cys171Ser)
c.342G>C (p.Val114=)
c.-49G>C (n.-49G>C)
Xg.154031207C>TCA415172981MECP2c.621G>A (p.Val207=)
c.657G>A (p.Val219=)
c.65+189G>A
c.548G>A (p.Cys183Tyr)
c.609G>A (p.Val203=)
c.512G>A (p.Cys171Tyr)
c.342G>A (p.Val114=)
c.-49G>A (n.-49G>A)
Xg.154031208A=CA2466570884MECP2c.620T= (p.Val207=)
c.656T= (p.Val219=)
c.65+188T=
c.547T= (p.Cys183=)
c.608T= (p.Val203=)
c.511T= (p.Cys171=)
c.341T= (p.Val114=)
c.-50T= (n.-50T=)
Xg.154031208A>CCA415172986MECP2c.620T>G (p.Val207Gly)
c.656T>G (p.Val219Gly)
c.65+188T>G
c.547T>G (p.Cys183Gly)
c.608T>G (p.Val203Gly)
c.511T>G (p.Cys171Gly)
c.341T>G (p.Val114Gly)
c.-50T>G (n.-50T>G)
Xg.154031208A>GCA10606762MECP2c.620T>C (p.Val207Ala)
c.656T>C (p.Val219Ala)
c.65+188T>C
c.547T>C (p.Cys183Arg)
c.608T>C (p.Val203Ala)
c.511T>C (p.Cys171Arg)
c.341T>C (p.Val114Ala)
c.-50T>C (n.-50T>C)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031208A>TCA415172988MECP2c.620T>A (p.Val207Glu)
c.656T>A (p.Val219Glu)
c.65+188T>A
c.547T>A (p.Cys183Ser)
c.608T>A (p.Val203Glu)
c.511T>A (p.Cys171Ser)
c.341T>A (p.Val114Glu)
c.-50T>A (n.-50T>A)
Xg.154031208dupCA270486MECP2c.620dup (p.Gln208AlafsTer28)
c.656dup (p.Gln220AlafsTer28)
c.65+188dup
c.547dup (p.Cys183LeufsTer?)
c.608dup (p.Gln204AlafsTer28)
c.511dup (p.Cys171LeufsTer?)
c.341dup (p.Gln115AlafsTer28)
c.-50dup (n.-50dup)
ClinVar dbSNP
Xg.154031209C>ACA415172990MECP2c.619G>T (p.Val207Leu)
c.655G>T (p.Val219Leu)
c.65+187G>T
c.546G>T (p.Val182=)
c.607G>T (p.Val203Leu)
c.510G>T (p.Val170=)
c.340G>T (p.Val114Leu)
c.-51G>T (n.-51G>T)
Xg.154031209C=CA2466570885MECP2c.619G= (p.Val207=)
c.655G= (p.Val219=)
c.65+187G=
c.546G= (p.Val182=)
c.607G= (p.Val203=)
c.510G= (p.Val170=)
c.340G= (p.Val114=)
c.-51G= (n.-51G=)
Xg.154031209C>GCA415172991MECP2c.619G>C (p.Val207Leu)
c.655G>C (p.Val219Leu)
c.65+187G>C
c.546G>C (p.Val182=)
c.607G>C (p.Val203Leu)
c.510G>C (p.Val170=)
c.340G>C (p.Val114Leu)
c.-51G>C (n.-51G>C)
Xg.154031209C>TCA10558577MECP2c.619G>A (p.Val207Met)
c.655G>A (p.Val219Met)
c.65+187G>A
c.546G>A (p.Val182=)
c.607G>A (p.Val203Met)
c.510G>A (p.Val170=)
c.340G>A (p.Val114Met)
c.-51G>A (n.-51G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154031210A>CCA415172994MECP2c.618T>G (p.Gly206=)
c.654T>G (p.Gly218=)
c.65+186T>G
c.545T>G (p.Val182Gly)
c.606T>G (p.Gly202=)
c.509T>G (p.Val170Gly)
c.339T>G (p.Gly113=)
c.-52T>G (n.-52T>G)
Xg.154031210A>GCA415172996MECP2c.618T>C (p.Gly206=)
c.654T>C (p.Gly218=)
c.65+186T>C
c.545T>C (p.Val182Ala)
c.606T>C (p.Gly202=)
c.509T>C (p.Val170Ala)
c.339T>C (p.Gly113=)
c.-52T>C (n.-52T>C)
ClinVar
Xg.154031210A>TCA415172997MECP2c.618T>A (p.Gly206=)
c.654T>A (p.Gly218=)
c.65+186T>A
c.545T>A (p.Val182Glu)
c.606T>A (p.Gly202=)
c.509T>A (p.Val170Glu)
c.339T>A (p.Gly113=)
c.-52T>A (n.-52T>A)
Xg.154031210_154031211delinsACCA2466570886MECP2c.617_618delinsGT (p.Gly206=)
c.653_654delinsGT (p.Gly218=)
c.65+185_65+186delinsGT
c.544_545delinsGT (p.Val182=)
c.605_606delinsGT (p.Gly202=)
c.508_509delinsGT (p.Val170=)
c.338_339delinsGT (p.Gly113=)
c.-53_-52delinsGT (n.-53_-52delinsGT)
Xg.154031211C>ACA415173001MECP2c.617G>T (p.Gly206Val)
c.653G>T (p.Gly218Val)
c.65+185G>T
c.544G>T (p.Val182Leu)
c.605G>T (p.Gly202Val)
c.508G>T (p.Val170Leu)
c.338G>T (p.Gly113Val)
c.-53G>T (n.-53G>T)
Xg.154031211C=CA2466570887MECP2c.617G= (p.Gly206=)
c.653G= (p.Gly218=)
c.65+185G=
c.544G= (p.Val182=)
c.605G= (p.Gly202=)
c.508G= (p.Val170=)
c.338G= (p.Gly113=)
c.-53G= (n.-53G=)
Xg.154031211C>GCA170346MECP2c.617G>C (p.Gly206Ala)
c.653G>C (p.Gly218Ala)
c.65+185G>C
c.544G>C (p.Val182Leu)
c.605G>C (p.Gly202Ala)
c.508G>C (p.Val170Leu)
c.338G>C (p.Gly113Ala)
c.-53G>C (n.-53G>C)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031211C>TCA232987MECP2c.617G>A (p.Gly206Asp)
c.653G>A (p.Gly218Asp)
c.65+185G>A
c.544G>A (p.Val182Met)
c.605G>A (p.Gly202Asp)
c.508G>A (p.Val170Met)
c.338G>A (p.Gly113Asp)
c.-53G>A (n.-53G>A)
ClinVar dbSNP
Xg.154031213delCA270485MECP2c.617del (p.Gly206ValfsTer4)
c.653del (p.Gly218ValfsTer4)
c.65+185del
c.544del (p.Val182CysfsTer29)
c.605del (p.Gly202ValfsTer4)
c.508del (p.Val170CysfsTer29)
c.338del (p.Gly113ValfsTer4)
c.-53del (n.-53del)
ClinVar dbSNP
Xg.154031212C>ACA415173005MECP2c.616G>T (p.Gly206Cys)
c.652G>T (p.Gly218Cys)
c.65+184G>T
c.543G>T (p.Arg181Ser)
c.604G>T (p.Gly202Cys)
c.507G>T (p.Arg169Ser)
c.337G>T (p.Gly113Cys)
c.-54G>T (n.-54G>T)
dbSNP gnomAD v4
Xg.154031212C=CA2466570888MECP2c.616G= (p.Gly206=)
c.652G= (p.Gly218=)
c.65+184G=
c.543G= (p.Arg181=)
c.604G= (p.Gly202=)
c.507G= (p.Arg169=)
c.337G= (p.Gly113=)
c.-54G= (n.-54G=)
Xg.154031212C>GCA415173007MECP2c.616G>C (p.Gly206Arg)
c.652G>C (p.Gly218Arg)
c.65+184G>C
c.543G>C (p.Arg181Ser)
c.604G>C (p.Gly202Arg)
c.507G>C (p.Arg169Ser)
c.337G>C (p.Gly113Arg)
c.-54G>C (n.-54G>C)
Xg.154031212C>TCA415173011MECP2c.616G>A (p.Gly206Ser)
c.652G>A (p.Gly218Ser)
c.65+184G>A
c.543G>A (p.Arg181=)
c.604G>A (p.Gly202Ser)
c.507G>A (p.Arg169=)
c.337G>A (p.Gly113Ser)
c.-54G>A (n.-54G>A)
dbSNP gnomAD v4
Xg.154031212_154031214delinsCCTCA2466570889MECP2c.614_616delinsAGG (p.Glu205=)
c.650_652delinsAGG (p.Glu217=)
c.65+182_65+184delinsAGG
c.541_543delinsAGG (p.Arg181=)
c.602_604delinsAGG (p.Glu201=)
c.505_507delinsAGG (p.Arg169=)
c.335_337delinsAGG (p.Glu112=)
c.-56_-54delinsAGG (n.-56_-54delinsAGG)
Xg.154031213C>ACA415173015MECP2c.615G>T (p.Glu205Asp)
c.651G>T (p.Glu217Asp)
c.65+183G>T
c.542G>T (p.Arg181Met)
c.603G>T (p.Glu201Asp)
c.506G>T (p.Arg169Met)
c.336G>T (p.Glu112Asp)
c.-55G>T (n.-55G>T)
Xg.154031213C>GCA415173017MECP2c.615G>C (p.Glu205Asp)
c.651G>C (p.Glu217Asp)
c.65+183G>C
c.542G>C (p.Arg181Thr)
c.603G>C (p.Glu201Asp)
c.506G>C (p.Arg169Thr)
c.336G>C (p.Glu112Asp)
c.-55G>C (n.-55G>C)
Xg.154031213C>TCA415173019MECP2c.615G>A (p.Glu205=)
c.651G>A (p.Glu217=)
c.65+183G>A
c.542G>A (p.Arg181Lys)
c.603G>A (p.Glu201=)
c.506G>A (p.Arg169Lys)
c.336G>A (p.Glu112=)
c.-55G>A (n.-55G>A)
Xg.154031215_154031216delCA915952030MECP2c.614_615del (p.Glu205GlyfsTer30)
c.650_651del (p.Glu217GlyfsTer30)
c.65+182_65+183del
c.541_542del (p.Arg181GlyfsTer?)
c.602_603del (p.Glu201GlyfsTer30)
c.505_506del (p.Arg169GlyfsTer?)
c.335_336del (p.Glu112GlyfsTer30)
c.-56_-55del (n.-56_-55del)
ClinVar dbSNP
Xg.154031214T>ACA415173022MECP2c.614A>T (p.Glu205Val)
c.650A>T (p.Glu217Val)
c.65+182A>T
c.541A>T (p.Arg181Trp)
c.602A>T (p.Glu201Val)
c.505A>T (p.Arg169Trp)
c.335A>T (p.Glu112Val)
c.-56A>T (n.-56A>T)
gnomAD v4
Xg.154031214T>CCA10558578MECP2c.614A>G (p.Glu205Gly)
c.650A>G (p.Glu217Gly)
c.65+182A>G
c.541A>G (p.Arg181Gly)
c.602A>G (p.Glu201Gly)
c.505A>G (p.Arg169Gly)
c.335A>G (p.Glu112Gly)
c.-56A>G (n.-56A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154031214T>GCA415173025MECP2c.614A>C (p.Glu205Ala)
c.650A>C (p.Glu217Ala)
c.65+182A>C
c.541A>C (p.Arg181=)
c.602A>C (p.Glu201Ala)
c.505A>C (p.Arg169=)
c.335A>C (p.Glu112Ala)
c.-56A>C (n.-56A>C)
Xg.154031214T=CA2466570890MECP2c.614A= (p.Glu205=)
c.650A= (p.Glu217=)
c.65+182A=
c.541A= (p.Arg181=)
c.602A= (p.Glu201=)
c.505A= (p.Arg169=)
c.335A= (p.Glu112=)
c.-56A= (n.-56A=)
Xg.154031215C>ACA270482MECP2c.613G>T (p.Glu205Ter)
c.649G>T (p.Glu217Ter)
c.65+181G>T
c.540G>T (p.Gln180His)
c.601G>T (p.Glu201Ter)
c.504G>T (p.Gln168His)
c.334G>T (p.Glu112Ter)
c.-57G>T (n.-57G>T)
ClinVar dbSNP
Xg.154031215C=CA2466570891MECP2c.613G= (p.Glu205=)
c.649G= (p.Glu217=)
c.65+181G=
c.540G= (p.Gln180=)
c.601G= (p.Glu201=)
c.504G= (p.Gln168=)
c.334G= (p.Glu112=)
c.-57G= (n.-57G=)
Xg.154031215C>GCA10558579MECP2c.613G>C (p.Glu205Gln)
c.649G>C (p.Glu217Gln)
c.65+181G>C
c.540G>C (p.Gln180His)
c.601G>C (p.Glu201Gln)
c.504G>C (p.Gln168His)
c.334G>C (p.Glu112Gln)
c.-57G>C (n.-57G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154031215C>TCA415173032MECP2c.613G>A (p.Glu205Lys)
c.649G>A (p.Glu217Lys)
c.65+181G>A
c.540G>A (p.Gln180=)
c.601G>A (p.Glu201Lys)
c.504G>A (p.Gln168=)
c.334G>A (p.Glu112Lys)
c.-57G>A (n.-57G>A)
Xg.154031216T>ACA415173038MECP2c.612A>T (p.Ser204=)
c.648A>T (p.Ser216=)
c.65+180A>T
c.539A>T (p.Gln180Leu)
c.600A>T (p.Ser200=)
c.503A>T (p.Gln168Leu)
c.333A>T (p.Ser111=)
c.-58A>T (n.-58A>T)
Xg.154031216T>CCA415173036MECP2c.612A>G (p.Ser204=)
c.648A>G (p.Ser216=)
c.65+180A>G
c.539A>G (p.Gln180Arg)
c.600A>G (p.Ser200=)
c.503A>G (p.Gln168Arg)
c.333A>G (p.Ser111=)
c.-58A>G (n.-58A>G)
ClinVar
Xg.154031216T>GCA415173041MECP2c.612A>C (p.Ser204=)
c.648A>C (p.Ser216=)
c.65+180A>C
c.539A>C (p.Gln180Pro)
c.600A>C (p.Ser200=)
c.503A>C (p.Gln168Pro)
c.333A>C (p.Ser111=)
c.-58A>C (n.-58A>C)
ClinVar dbSNP
Xg.154031216T=CA2466570893MECP2c.612A= (p.Ser204=)
c.648A= (p.Ser216=)
c.65+180A=
c.539A= (p.Gln180=)
c.600A= (p.Ser200=)
c.503A= (p.Gln168=)
c.333A= (p.Ser111=)
c.-58A= (n.-58A=)
Xg.154031216dupCA658799899MECP2c.612dup (p.Glu205ArgfsTer?)
c.648dup (p.Glu217ArgfsTer?)
c.65+180dup
c.539dup (p.Arg181GlufsTer?)
c.600dup (p.Glu201ArgfsTer?)
c.503dup (p.Arg169GlufsTer?)
c.333dup (p.Glu112ArgfsTer?)
c.-58dup (n.-58dup)
ClinVar dbSNP
Xg.154031216_154031217delinsCTCA270481MECP2c.611_612delinsAG (p.Ser204Ter)
c.647_648delinsAG (p.Ser216Ter)
c.65+179_65+180delinsAG
c.538_539delinsAG (p.Gln180Arg)
c.599_600delinsAG (p.Ser200Ter)
c.502_503delinsAG (p.Gln168Arg)
c.332_333delinsAG (p.Ser111Ter)
c.-59_-58delinsAG (n.-59_-58delinsAG)
ClinVar dbSNP
Xg.154031216_154031217delinsTGCA2466570892MECP2c.611_612delinsCA (p.Ser204=)
c.647_648delinsCA (p.Ser216=)
c.65+179_65+180delinsCA
c.538_539delinsCA (p.Gln180=)
c.599_600delinsCA (p.Ser200=)
c.502_503delinsCA (p.Gln168=)
c.332_333delinsCA (p.Ser111=)
c.-59_-58delinsCA (n.-59_-58delinsCA)
Xg.154031217G>ACA415173045MECP2c.611C>T (p.Ser204Leu)
c.647C>T (p.Ser216Leu)
c.65+179C>T
c.538C>T (p.Gln180Ter)
c.599C>T (p.Ser200Leu)
c.502C>T (p.Gln168Ter)
c.332C>T (p.Ser111Leu)
c.-59C>T (n.-59C>T)
dbSNP gnomAD v2 gnomAD v4
Xg.154031217G>CCA202772MECP2c.611C>G (p.Ser204Ter)
c.647C>G (p.Ser216Ter)
c.65+179C>G
c.538C>G (p.Gln180Glu)
c.599C>G (p.Ser200Ter)
c.502C>G (p.Gln168Glu)
c.332C>G (p.Ser111Ter)
c.-59C>G (n.-59C>G)
ClinVar dbSNP
Xg.154031217G=CA2466570894MECP2c.611C= (p.Ser204=)
c.647C= (p.Ser216=)
c.65+179C=
c.538C= (p.Gln180=)
c.599C= (p.Ser200=)
c.502C= (p.Gln168=)
c.332C= (p.Ser111=)
c.-59C= (n.-59C=)
Xg.154031217G>TCA415173049MECP2c.611C>A (p.Ser204Ter)
c.647C>A (p.Ser216Ter)
c.65+179C>A
c.538C>A (p.Gln180Lys)
c.599C>A (p.Ser200Ter)
c.502C>A (p.Gln168Lys)
c.332C>A (p.Ser111Ter)
c.-59C>A (n.-59C>A)
ClinVar
Xg.154031217dupCA2695237701MECP2c.611dup (p.Glu205ArgfsTer?)
c.647dup (p.Glu217ArgfsTer?)
c.65+179dup
c.538dup (p.Gln180ProfsTer?)
c.599dup (p.Glu201ArgfsTer?)
c.502dup (p.Gln168ProfsTer?)
c.332dup (p.Glu112ArgfsTer?)
c.-59dup (n.-59dup)
Xg.154031218A=CA2466570895MECP2c.610T= (p.Ser204=)
c.646T= (p.Ser216=)
c.65+178T=
c.537T= (p.Arg179=)
c.598T= (p.Ser200=)
c.501T= (p.Arg167=)
c.331T= (p.Ser111=)
c.-60T= (n.-60T=)
Xg.154031218A>CCA415173052MECP2c.610T>G (p.Ser204Ala)
c.646T>G (p.Ser216Ala)
c.65+178T>G
c.537T>G (p.Arg179=)
c.598T>G (p.Ser200Ala)
c.501T>G (p.Arg167=)
c.331T>G (p.Ser111Ala)
c.-60T>G (n.-60T>G)
Xg.154031218A>GCA415173053MECP2c.610T>C (p.Ser204Pro)
c.646T>C (p.Ser216Pro)
c.65+178T>C
c.537T>C (p.Arg179=)
c.598T>C (p.Ser200Pro)
c.501T>C (p.Arg167=)
c.331T>C (p.Ser111Pro)
c.-60T>C (n.-60T>C)
Xg.154031218A>TCA415173056MECP2c.610T>A (p.Ser204Thr)
c.646T>A (p.Ser216Thr)
c.65+178T>A
c.537T>A (p.Arg179=)
c.598T>A (p.Ser200Thr)
c.501T>A (p.Arg167=)
c.331T>A (p.Ser111Thr)
c.-60T>A (n.-60T>A)
Xg.154031219C>ACA415173059MECP2c.609G>T (p.Thr203=)
c.645G>T (p.Thr215=)
c.65+177G>T
c.536G>T (p.Arg179Leu)
c.597G>T (p.Thr199=)
c.500G>T (p.Arg167Leu)
c.330G>T (p.Thr110=)
c.-61G>T (n.-61G>T)
Xg.154031219C=CA2466570896MECP2c.609G= (p.Thr203=)
c.645G= (p.Thr215=)
c.65+177G=
c.536G= (p.Arg179=)
c.597G= (p.Thr199=)
c.500G= (p.Arg167=)
c.330G= (p.Thr110=)
c.-61G= (n.-61G=)
Xg.154031219C>GCA415173062MECP2c.609G>C (p.Thr203=)
c.645G>C (p.Thr215=)
c.65+177G>C
c.536G>C (p.Arg179Pro)
c.597G>C (p.Thr199=)
c.500G>C (p.Arg167Pro)
c.330G>C (p.Thr110=)
c.-61G>C (n.-61G>C)
Xg.154031219C>TCA170343MECP2c.609G>A (p.Thr203=)
c.645G>A (p.Thr215=)
c.65+177G>A
c.536G>A (p.Arg179His)
c.597G>A (p.Thr199=)
c.500G>A (p.Arg167His)
c.330G>A (p.Thr110=)
c.-61G>A (n.-61G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031224_154031241dupCA10558580MECP2c.592_609dup (p.Thr203_Ser204insArgProLysAlaAlaThr)
c.628_645dup (p.Thr215_Ser216insArgProLysAlaAlaThr)
c.65+160_65+177dup
c.519_536dup (p.Arg179_Gln180insAspProArgArgProArg)
c.580_597dup (p.Thr199_Ser200insArgProLysAlaAlaThr)
c.483_500dup (p.Arg167_Gln168insAspProArgArgProArg)
c.313_330dup (p.Thr110_Ser111insArgProLysAlaAlaThr)
c.-78_-61dup (n.-78_-61dup)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154031219_154031220insTCA270480MECP2c.608_609insA (p.Ser204ValfsTer?)
c.644_645insA (p.Ser216ValfsTer?)
c.65+176_65+177insA
c.535_536insA (p.Arg179GlnfsTer?)
c.596_597insA (p.Ser200ValfsTer?)
c.499_500insA (p.Arg167GlnfsTer?)
c.329_330insA (p.Ser111ValfsTer?)
c.-62_-61insA (n.-62_-61insA)
ClinVar dbSNP
Xg.154031220G>ACA148319MECP2c.608C>T (p.Thr203Met)
c.644C>T (p.Thr215Met)
c.65+176C>T
c.535C>T (p.Arg179Cys)
c.596C>T (p.Thr199Met)
c.499C>T (p.Arg167Cys)
c.329C>T (p.Thr110Met)
c.-62C>T (n.-62C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031220G>CCA415173067MECP2c.608C>G (p.Thr203Arg)
c.644C>G (p.Thr215Arg)
c.65+176C>G
c.535C>G (p.Arg179Gly)
c.596C>G (p.Thr199Arg)
c.499C>G (p.Arg167Gly)
c.329C>G (p.Thr110Arg)
c.-62C>G (n.-62C>G)
Xg.154031220G=CA2466570897MECP2c.608C= (p.Thr203=)
c.644C= (p.Thr215=)
c.65+176C=
c.535C= (p.Arg179=)
c.596C= (p.Thr199=)
c.499C= (p.Arg167=)
c.329C= (p.Thr110=)
c.-62C= (n.-62C=)
Xg.154031220G>TCA415173069MECP2c.608C>A (p.Thr203Lys)
c.644C>A (p.Thr215Lys)
c.65+176C>A
c.535C>A (p.Arg179Ser)
c.596C>A (p.Thr199Lys)
c.499C>A (p.Arg167Ser)
c.329C>A (p.Thr110Lys)
c.-62C>A (n.-62C>A)
dbSNP gnomAD v3 gnomAD v4
Xg.154031221T>ACA415173075MECP2c.607A>T (p.Thr203Ser)
c.643A>T (p.Thr215Ser)
c.65+175A>T
c.534A>T (p.Pro178=)
c.595A>T (p.Thr199Ser)
c.498A>T (p.Pro166=)
c.328A>T (p.Thr110Ser)
c.-63A>T (n.-63A>T)
Xg.154031221T>CCA415173072MECP2c.607A>G (p.Thr203Ala)
c.643A>G (p.Thr215Ala)
c.65+175A>G
c.534A>G (p.Pro178=)
c.595A>G (p.Thr199Ala)
c.498A>G (p.Pro166=)
c.328A>G (p.Thr110Ala)
c.-63A>G (n.-63A>G)
gnomAD v4
Xg.154031221T>GCA415173073MECP2c.607A>C (p.Thr203Pro)
c.643A>C (p.Thr215Pro)
c.65+175A>C
c.534A>C (p.Pro178=)
c.595A>C (p.Thr199Pro)
c.498A>C (p.Pro166=)
c.328A>C (p.Thr110Pro)
c.-63A>C (n.-63A>C)
Xg.154031222G>ACA10558581MECP2c.606C>T (p.Ala202=)
c.642C>T (p.Ala214=)
c.65+174C>T
c.533C>T (p.Pro178Leu)
c.594C>T (p.Ala198=)
c.497C>T (p.Pro166Leu)
c.327C>T (p.Ala109=)
c.-64C>T (n.-64C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031222G>CCA415173079MECP2c.606C>G (p.Ala202=)
c.642C>G (p.Ala214=)
c.65+174C>G
c.533C>G (p.Pro178Arg)
c.594C>G (p.Ala198=)
c.497C>G (p.Pro166Arg)
c.327C>G (p.Ala109=)
c.-64C>G (n.-64C>G)
gnomAD v4
Xg.154031222G=CA2466570898MECP2c.606C= (p.Ala202=)
c.642C= (p.Ala214=)
c.65+174C=
c.533C= (p.Pro178=)
c.594C= (p.Ala198=)
c.497C= (p.Pro166=)
c.327C= (p.Ala109=)
c.-64C= (n.-64C=)
Xg.154031222G>TCA415173081MECP2c.606C>A (p.Ala202=)
c.642C>A (p.Ala214=)
c.65+174C>A
c.533C>A (p.Pro178Gln)
c.594C>A (p.Ala198=)
c.497C>A (p.Pro166Gln)
c.327C>A (p.Ala109=)
c.-64C>A (n.-64C>A)
ClinVar
Xg.154031223delCA2573159387MECP2c.606del (p.Thr203ArgfsTer7)
c.642del (p.Thr215ArgfsTer7)
c.65+174del
c.533del (p.Pro178HisfsTer?)
c.594del (p.Thr199ArgfsTer7)
c.497del (p.Pro166HisfsTer?)
c.327del (p.Thr110ArgfsTer7)
c.-64del (n.-64del)
ClinVar dbSNP
Xg.154031223G>ACA294713MECP2c.605C>T (p.Ala202Val)
c.641C>T (p.Ala214Val)
c.65+173C>T
c.532C>T (p.Pro178Ser)
c.593C>T (p.Ala198Val)
c.496C>T (p.Pro166Ser)
c.326C>T (p.Ala109Val)
c.-65C>T (n.-65C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154031223G>CCA415173087MECP2c.605C>G (p.Ala202Gly)
c.641C>G (p.Ala214Gly)
c.65+173C>G
c.532C>G (p.Pro178Ala)
c.593C>G (p.Ala198Gly)
c.496C>G (p.Pro166Ala)
c.326C>G (p.Ala109Gly)
c.-65C>G (n.-65C>G)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031223G=CA2466570899MECP2c.605C= (p.Ala202=)
c.641C= (p.Ala214=)
c.65+173C=
c.532C= (p.Pro178=)
c.593C= (p.Ala198=)
c.496C= (p.Pro166=)
c.326C= (p.Ala109=)
c.-65C= (n.-65C=)
Xg.154031223G>TCA415173089MECP2c.605C>A (p.Ala202Asp)
c.641C>A (p.Ala214Asp)
c.65+173C>A
c.532C>A (p.Pro178Thr)
c.593C>A (p.Ala198Asp)
c.496C>A (p.Pro166Thr)
c.326C>A (p.Ala109Asp)
c.-65C>A (n.-65C>A)
Xg.154031224C>ACA415173092MECP2c.604G>T (p.Ala202Ser)
c.640G>T (p.Ala214Ser)
c.65+172G>T
c.531G>T (p.Arg177=)
c.592G>T (p.Ala198Ser)
c.495G>T (p.Arg165=)
c.325G>T (p.Ala109Ser)
c.-66G>T (n.-66G>T)
Xg.154031224C>GCA415173093MECP2c.604G>C (p.Ala202Pro)
c.640G>C (p.Ala214Pro)
c.65+172G>C
c.531G>C (p.Arg177=)
c.592G>C (p.Ala198Pro)
c.495G>C (p.Arg165=)
c.325G>C (p.Ala109Pro)
c.-66G>C (n.-66G>C)
Xg.154031224C>TCA415173094MECP2c.604G>A (p.Ala202Thr)
c.640G>A (p.Ala214Thr)
c.65+172G>A
c.531G>A (p.Arg177=)
c.592G>A (p.Ala198Thr)
c.495G>A (p.Arg165=)
c.325G>A (p.Ala109Thr)
c.-66G>A (n.-66G>A)
Xg.154031225C>ACA415173110MECP2c.603G>T (p.Ala201=)
c.639G>T (p.Ala213=)
c.65+171G>T
c.530G>T (p.Arg177Leu)
c.591G>T (p.Ala197=)
c.494G>T (p.Arg165Leu)
c.324G>T (p.Ala108=)
c.-67G>T (n.-67G>T)
Xg.154031225C=CA2466570900MECP2c.603G= (p.Ala201=)
c.639G= (p.Ala213=)
c.65+171G=
c.530G= (p.Arg177=)
c.591G= (p.Ala197=)
c.494G= (p.Arg165=)
c.324G= (p.Ala108=)
c.-67G= (n.-67G=)
Xg.154031225C>GCA415173108MECP2c.603G>C (p.Ala201=)
c.639G>C (p.Ala213=)
c.65+171G>C
c.530G>C (p.Arg177Pro)
c.591G>C (p.Ala197=)
c.494G>C (p.Arg165Pro)
c.324G>C (p.Ala108=)
c.-67G>C (n.-67G>C)
Xg.154031225C>TCA199309MECP2c.603G>A (p.Ala201=)
c.639G>A (p.Ala213=)
c.65+171G>A
c.530G>A (p.Arg177Gln)
c.591G>A (p.Ala197=)
c.494G>A (p.Arg165Gln)
c.324G>A (p.Ala108=)
c.-67G>A (n.-67G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031226G>ACA211932MECP2c.602C>T (p.Ala201Val)
c.638C>T (p.Ala213Val)
c.65+170C>T
c.529C>T (p.Arg177Trp)
c.590C>T (p.Ala197Val)
c.493C>T (p.Arg165Trp)
c.323C>T (p.Ala108Val)
c.-68C>T (n.-68C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031226G>CCA415173120MECP2c.602C>G (p.Ala201Gly)
c.638C>G (p.Ala213Gly)
c.65+170C>G
c.529C>G (p.Arg177Gly)
c.590C>G (p.Ala197Gly)
c.493C>G (p.Arg165Gly)
c.323C>G (p.Ala108Gly)
c.-68C>G (n.-68C>G)
Xg.154031226G=CA2466570901MECP2c.602C= (p.Ala201=)
c.638C= (p.Ala213=)
c.65+170C=
c.529C= (p.Arg177=)
c.590C= (p.Ala197=)
c.493C= (p.Arg165=)
c.323C= (p.Ala108=)
c.-68C= (n.-68C=)
Xg.154031226G>TCA415173123MECP2c.602C>A (p.Ala201Glu)
c.638C>A (p.Ala213Glu)
c.65+170C>A
c.529C>A (p.Arg177=)
c.590C>A (p.Ala197Glu)
c.493C>A (p.Arg165=)
c.323C>A (p.Ala108Glu)
c.-68C>A (n.-68C>A)
Xg.154031227C>ACA415173127MECP2c.601G>T (p.Ala201Ser)
c.637G>T (p.Ala213Ser)
c.65+169G>T
c.528G>T (p.Arg176Ser)
c.589G>T (p.Ala197Ser)
c.492G>T (p.Arg164Ser)
c.322G>T (p.Ala108Ser)
c.-69G>T (n.-69G>T)
Xg.154031227C>GCA415173132MECP2c.601G>C (p.Ala201Pro)
c.637G>C (p.Ala213Pro)
c.65+169G>C
c.528G>C (p.Arg176Ser)
c.589G>C (p.Ala197Pro)
c.492G>C (p.Arg164Ser)
c.322G>C (p.Ala108Pro)
c.-69G>C (n.-69G>C)
Xg.154031227C>TCA415173133MECP2c.601G>A (p.Ala201Thr)
c.637G>A (p.Ala213Thr)
c.65+169G>A
c.528G>A (p.Arg176=)
c.589G>A (p.Ala197Thr)
c.492G>A (p.Arg164=)
c.322G>A (p.Ala108Thr)
c.-69G>A (n.-69G>A)
gnomAD v4
Xg.154031228dupCA270479MECP2c.601dup (p.Ala201GlyfsTer?)
c.637dup (p.Ala213GlyfsTer?)
c.65+169dup
c.528dup (p.Arg177AlafsTer?)
c.589dup (p.Ala197GlyfsTer?)
c.492dup (p.Arg165AlafsTer?)
c.322dup (p.Ala108GlyfsTer?)
c.-69dup (n.-69dup)
ClinVar dbSNP
Xg.154031228C>ACA415173135MECP2c.600G>T (p.Lys200Asn)
c.636G>T (p.Lys212Asn)
c.65+168G>T
c.527G>T (p.Arg176Met)
c.588G>T (p.Lys196Asn)
c.491G>T (p.Arg164Met)
c.321G>T (p.Lys107Asn)
c.-70G>T (n.-70G>T)
Xg.154031228C>GCA415173137MECP2c.600G>C (p.Lys200Asn)
c.636G>C (p.Lys212Asn)
c.65+168G>C
c.527G>C (p.Arg176Thr)
c.588G>C (p.Lys196Asn)
c.491G>C (p.Arg164Thr)
c.321G>C (p.Lys107Asn)
c.-70G>C (n.-70G>C)
Xg.154031228C>TCA415173140MECP2c.600G>A (p.Lys200=)
c.636G>A (p.Lys212=)
c.65+168G>A
c.527G>A (p.Arg176Lys)
c.588G>A (p.Lys196=)
c.491G>A (p.Arg164Lys)
c.321G>A (p.Lys107=)
c.-70G>A (n.-70G>A)
Xg.154031229T>ACA415173145MECP2c.599A>T (p.Lys200Met)
c.635A>T (p.Lys212Met)
c.65+167A>T
c.526A>T (p.Arg176Trp)
c.587A>T (p.Lys196Met)
c.490A>T (p.Arg164Trp)
c.320A>T (p.Lys107Met)
c.-71A>T (n.-71A>T)
Xg.154031229T>CCA415173144MECP2c.599A>G (p.Lys200Arg)
c.635A>G (p.Lys212Arg)
c.65+167A>G
c.526A>G (p.Arg176Gly)
c.587A>G (p.Lys196Arg)
c.490A>G (p.Arg164Gly)
c.320A>G (p.Lys107Arg)
c.-71A>G (n.-71A>G)
Xg.154031229T>GCA415173143MECP2c.599A>C (p.Lys200Thr)
c.635A>C (p.Lys212Thr)
c.65+167A>C
c.526A>C (p.Arg176=)
c.587A>C (p.Lys196Thr)
c.490A>C (p.Arg164=)
c.320A>C (p.Lys107Thr)
c.-71A>C (n.-71A>C)
ClinVar dbSNP gnomAD v4
Xg.154031230T>ACA270476MECP2c.598A>T (p.Lys200Ter)
c.634A>T (p.Lys212Ter)
c.65+166A>T
c.525A>T (p.Pro175=)
c.586A>T (p.Lys196Ter)
c.489A>T (p.Pro163=)
c.319A>T (p.Lys107Ter)
c.-72A>T (n.-72A>T)
ClinVar dbSNP
Xg.154031230T>CCA415173148MECP2c.598A>G (p.Lys200Glu)
c.634A>G (p.Lys212Glu)
c.65+166A>G
c.525A>G (p.Pro175=)
c.586A>G (p.Lys196Glu)
c.489A>G (p.Pro163=)
c.319A>G (p.Lys107Glu)
c.-72A>G (n.-72A>G)
ClinVar
Xg.154031230T>GCA415173149MECP2c.598A>C (p.Lys200Gln)
c.634A>C (p.Lys212Gln)
c.65+166A>C
c.525A>C (p.Pro175=)
c.586A>C (p.Lys196Gln)
c.489A>C (p.Pro163=)
c.319A>C (p.Lys107Gln)
c.-72A>C (n.-72A>C)
gnomAD v4
Xg.154031230T=CA2466570902MECP2c.598A= (p.Lys200=)
c.634A= (p.Lys212=)
c.65+166A=
c.525A= (p.Pro175=)
c.586A= (p.Lys196=)
c.489A= (p.Pro163=)
c.319A= (p.Lys107=)
c.-72A= (n.-72A=)
Xg.154031231G>ACA415173150MECP2c.597C>T (p.Pro199=)
c.633C>T (p.Pro211=)
c.65+165C>T
c.524C>T (p.Pro175Leu)
c.585C>T (p.Pro195=)
c.488C>T (p.Pro163Leu)
c.318C>T (p.Pro106=)
c.-73C>T (n.-73C>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.154031231G>CCA10558582MECP2c.597C>G (p.Pro199=)
c.633C>G (p.Pro211=)
c.65+165C>G
c.524C>G (p.Pro175Arg)
c.585C>G (p.Pro195=)
c.488C>G (p.Pro163Arg)
c.318C>G (p.Pro106=)
c.-73C>G (n.-73C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031231G=CA2466570903MECP2c.597C= (p.Pro199=)
c.633C= (p.Pro211=)
c.65+165C=
c.524C= (p.Pro175=)
c.585C= (p.Pro195=)
c.488C= (p.Pro163=)
c.318C= (p.Pro106=)
c.-73C= (n.-73C=)
Xg.154031231G>TCA415173152MECP2c.597C>A (p.Pro199=)
c.633C>A (p.Pro211=)
c.65+165C>A
c.524C>A (p.Pro175Gln)
c.585C>A (p.Pro195=)
c.488C>A (p.Pro163Gln)
c.318C>A (p.Pro106=)
c.-73C>A (n.-73C>A)
Xg.154031232G>ACA415173153MECP2c.596C>T (p.Pro199Leu)
c.632C>T (p.Pro211Leu)
c.65+164C>T
c.523C>T (p.Pro175Ser)
c.584C>T (p.Pro195Leu)
c.487C>T (p.Pro163Ser)
c.317C>T (p.Pro106Leu)
c.-74C>T (n.-74C>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.154031232G>CCA10558583MECP2c.596C>G (p.Pro199Arg)
c.632C>G (p.Pro211Arg)
c.65+164C>G
c.523C>G (p.Pro175Ala)
c.584C>G (p.Pro195Arg)
c.487C>G (p.Pro163Ala)
c.317C>G (p.Pro106Arg)
c.-74C>G (n.-74C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031232G=CA2466570904MECP2c.596C= (p.Pro199=)
c.632C= (p.Pro211=)
c.65+164C=
c.523C= (p.Pro175=)
c.584C= (p.Pro195=)
c.487C= (p.Pro163=)
c.317C= (p.Pro106=)
c.-74C= (n.-74C=)
Xg.154031232G>TCA170340MECP2c.596C>A (p.Pro199His)
c.632C>A (p.Pro211His)
c.65+164C>A
c.523C>A (p.Pro175Thr)
c.584C>A (p.Pro195His)
c.487C>A (p.Pro163Thr)
c.317C>A (p.Pro106His)
c.-74C>A (n.-74C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154031233G>ACA415173156MECP2c.595C>T (p.Pro199Ser)
c.631C>T (p.Pro211Ser)
c.65+163C>T
c.522C>T (p.Asp174=)
c.583C>T (p.Pro195Ser)
c.486C>T (p.Asp162=)
c.316C>T (p.Pro106Ser)
c.-75C>T (n.-75C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031233G>CCA415173160MECP2c.595C>G (p.Pro199Ala)
c.631C>G (p.Pro211Ala)
c.65+163C>G
c.522C>G (p.Asp174Glu)
c.583C>G (p.Pro195Ala)
c.486C>G (p.Asp162Glu)
c.316C>G (p.Pro106Ala)
c.-75C>G (n.-75C>G)
gnomAD v4
Xg.154031233G=CA2466570905MECP2c.595C= (p.Pro199=)
c.631C= (p.Pro211=)
c.65+163C=
c.522C= (p.Asp174=)
c.583C= (p.Pro195=)
c.486C= (p.Asp162=)
c.316C= (p.Pro106=)
c.-75C= (n.-75C=)
Xg.154031233G>TCA10558584MECP2c.595C>A (p.Pro199Thr)
c.631C>A (p.Pro211Thr)
c.65+163C>A
c.522C>A (p.Asp174Glu)
c.583C>A (p.Pro195Thr)
c.486C>A (p.Asp162Glu)
c.316C>A (p.Pro106Thr)
c.-75C>A (n.-75C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154031234T>ACA415173166MECP2c.594A>T (p.Arg198Ser)
c.630A>T (p.Arg210Ser)
c.65+162A>T
c.521A>T (p.Asp174Val)
c.582A>T (p.Arg194Ser)
c.485A>T (p.Asp162Val)
c.315A>T (p.Arg105Ser)
c.-76A>T (n.-76A>T)
Xg.154031234T>CCA415173170MECP2c.594A>G (p.Arg198=)
c.630A>G (p.Arg210=)
c.65+162A>G
c.521A>G (p.Asp174Gly)
c.582A>G (p.Arg194=)
c.485A>G (p.Asp162Gly)
c.315A>G (p.Arg105=)
c.-76A>G (n.-76A>G)
Xg.154031234T>GCA415173165MECP2c.594A>C (p.Arg198Ser)
c.630A>C (p.Arg210Ser)
c.65+162A>C
c.521A>C (p.Asp174Ala)
c.582A>C (p.Arg194Ser)
c.485A>C (p.Asp162Ala)
c.315A>C (p.Arg105Ser)
c.-76A>C (n.-76A>C)
Xg.154031235C>ACA415173178MECP2c.593G>T (p.Arg198Ile)
c.629G>T (p.Arg210Ile)
c.65+161G>T
c.520G>T (p.Asp174Tyr)
c.581G>T (p.Arg194Ile)
c.484G>T (p.Asp162Tyr)
c.314G>T (p.Arg105Ile)
c.-77G>T (n.-77G>T)
Xg.154031235C>GCA415173174MECP2c.593G>C (p.Arg198Thr)
c.629G>C (p.Arg210Thr)
c.65+161G>C
c.520G>C (p.Asp174His)
c.581G>C (p.Arg194Thr)
c.484G>C (p.Asp162His)
c.314G>C (p.Arg105Thr)
c.-77G>C (n.-77G>C)
COSMIC
Xg.154031235C>TCA415173176MECP2c.593G>A (p.Arg198Lys)
c.629G>A (p.Arg210Lys)
c.65+161G>A
c.520G>A (p.Asp174Asn)
c.581G>A (p.Arg194Lys)
c.484G>A (p.Asp162Asn)
c.314G>A (p.Arg105Lys)
c.-77G>A (n.-77G>A)
Xg.154031236T>ACA270473MECP2c.592A>T (p.Arg198Ter)
c.628A>T (p.Arg210Ter)
c.65+160A>T
c.519A>T (p.Arg173=)
c.580A>T (p.Arg194Ter)
c.483A>T (p.Arg161=)
c.313A>T (p.Arg105Ter)
c.-78A>T (n.-78A>T)
ClinVar dbSNP
Xg.154031236T>CCA415173183MECP2c.592A>G (p.Arg198Gly)
c.628A>G (p.Arg210Gly)
c.65+160A>G
c.519A>G (p.Arg173=)
c.580A>G (p.Arg194Gly)
c.483A>G (p.Arg161=)
c.313A>G (p.Arg105Gly)
c.-78A>G (n.-78A>G)
gnomAD v4
Xg.154031236T>GCA10558585MECP2c.592A>C (p.Arg198=)
c.628A>C (p.Arg210=)
c.65+160A>C
c.519A>C (p.Arg173=)
c.580A>C (p.Arg194=)
c.483A>C (p.Arg161=)
c.313A>C (p.Arg105=)
c.-78A>C (n.-78A>C)
dbSNP ExAC gnomAD v3 gnomAD v4
Xg.154031236T=CA2466570906MECP2c.592A= (p.Arg198=)
c.628A= (p.Arg210=)
c.65+160A=
c.519A= (p.Arg173=)
c.580A= (p.Arg194=)
c.483A= (p.Arg161=)
c.313A= (p.Arg105=)
c.-78A= (n.-78A=)
Xg.154031237C>ACA415173188MECP2c.591G>T (p.Thr197=)
c.627G>T (p.Thr209=)
c.65+159G>T
c.518G>T (p.Arg173Leu)
c.579G>T (p.Thr193=)
c.482G>T (p.Arg161Leu)
c.312G>T (p.Thr104=)
c.-79G>T (n.-79G>T)
Xg.154031237C=CA2466570907MECP2c.591G= (p.Thr197=)
c.627G= (p.Thr209=)
c.65+159G=
c.518G= (p.Arg173=)
c.579G= (p.Thr193=)
c.482G= (p.Arg161=)
c.312G= (p.Thr104=)
c.-79G= (n.-79G=)
Xg.154031237C>GCA10558586MECP2c.591G>C (p.Thr197=)
c.627G>C (p.Thr209=)
c.65+159G>C
c.518G>C (p.Arg173Pro)
c.579G>C (p.Thr193=)
c.482G>C (p.Arg161Pro)
c.312G>C (p.Thr104=)
c.-79G>C (n.-79G>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031237C>TCA170337MECP2c.591G>A (p.Thr197=)
c.627G>A (p.Thr209=)
c.65+159G>A
c.518G>A (p.Arg173Gln)
c.579G>A (p.Thr193=)
c.482G>A (p.Arg161Gln)
c.312G>A (p.Thr104=)
c.-79G>A (n.-79G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031238G>ACA199312MECP2c.590C>T (p.Thr197Met)
c.626C>T (p.Thr209Met)
c.65+158C>T
c.517C>T (p.Arg173Ter)
c.578C>T (p.Thr193Met)
c.481C>T (p.Arg161Ter)
c.311C>T (p.Thr104Met)
c.-80C>T (n.-80C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031238G>CCA415173193MECP2c.590C>G (p.Thr197Arg)
c.626C>G (p.Thr209Arg)
c.65+158C>G
c.517C>G (p.Arg173Gly)
c.578C>G (p.Thr193Arg)
c.481C>G (p.Arg161Gly)
c.311C>G (p.Thr104Arg)
c.-80C>G (n.-80C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031238G=CA2466570908MECP2c.590C= (p.Thr197=)
c.626C= (p.Thr209=)
c.65+158C=
c.517C= (p.Arg173=)
c.578C= (p.Thr193=)
c.481C= (p.Arg161=)
c.311C= (p.Thr104=)
c.-80C= (n.-80C=)
Xg.154031238G>TCA415173195MECP2c.590C>A (p.Thr197Lys)
c.626C>A (p.Thr209Lys)
c.65+158C>A
c.517C>A (p.Arg173=)
c.578C>A (p.Thr193Lys)
c.481C>A (p.Arg161=)
c.311C>A (p.Thr104Lys)
c.-80C>A (n.-80C>A)
Xg.154031239T>ACA415173202MECP2c.589A>T (p.Thr197Ser)
c.625A>T (p.Thr209Ser)
c.65+157A>T
c.516A>T (p.Pro172=)
c.577A>T (p.Thr193Ser)
c.480A>T (p.Pro160=)
c.310A>T (p.Thr104Ser)
c.-81A>T (n.-81A>T)
Xg.154031239T>CCA415173200MECP2c.589A>G (p.Thr197Ala)
c.625A>G (p.Thr209Ala)
c.65+157A>G
c.516A>G (p.Pro172=)
c.577A>G (p.Thr193Ala)
c.480A>G (p.Pro160=)
c.310A>G (p.Thr104Ala)
c.-81A>G (n.-81A>G)
dbSNP
Xg.154031239T>GCA415173197MECP2c.589A>C (p.Thr197Pro)
c.625A>C (p.Thr209Pro)
c.65+157A>C
c.516A>C (p.Pro172=)
c.577A>C (p.Thr193Pro)
c.480A>C (p.Pro160=)
c.310A>C (p.Thr104Pro)
c.-81A>C (n.-81A>C)
Xg.154031239T=CA2466570909MECP2c.589A= (p.Thr197=)
c.625A= (p.Thr209=)
c.65+157A=
c.516A= (p.Pro172=)
c.577A= (p.Thr193=)
c.480A= (p.Pro160=)
c.310A= (p.Thr104=)
c.-81A= (n.-81A=)
Xg.154031239_154031242delCA2695237590MECP2c.586_589del (p.Thr196ArgfsTer13)
c.622_625del (p.Thr208ArgfsTer13)
c.65+154_65+157del
c.513_516del (p.Pro172GlufsTer?)
c.574_577del (p.Thr192ArgfsTer13)
c.477_480del (p.Pro160GlufsTer?)
c.307_310del (p.Thr103ArgfsTer13)
c.-84_-81del (n.-84_-81del)
Xg.154031240G>ACA415173206MECP2c.588C>T (p.Thr196=)
c.624C>T (p.Thr208=)
c.65+156C>T
c.515C>T (p.Pro172Leu)
c.576C>T (p.Thr192=)
c.479C>T (p.Pro160Leu)
c.309C>T (p.Thr103=)
c.-82C>T (n.-82C>T)
dbSNP gnomAD v2
Xg.154031240G>CCA415173208MECP2c.588C>G (p.Thr196=)
c.624C>G (p.Thr208=)
c.65+156C>G
c.515C>G (p.Pro172Arg)
c.576C>G (p.Thr192=)
c.479C>G (p.Pro160Arg)
c.309C>G (p.Thr103=)
c.-82C>G (n.-82C>G)
Xg.154031240G=CA2466570910MECP2c.588C= (p.Thr196=)
c.624C= (p.Thr208=)
c.65+156C=
c.515C= (p.Pro172=)
c.576C= (p.Thr192=)
c.479C= (p.Pro160=)
c.309C= (p.Thr103=)
c.-82C= (n.-82C=)
Xg.154031240G>TCA415173210MECP2c.588C>A (p.Thr196=)
c.624C>A (p.Thr208=)
c.65+156C>A
c.515C>A (p.Pro172Gln)
c.576C>A (p.Thr192=)
c.479C>A (p.Pro160Gln)
c.309C>A (p.Thr103=)
c.-82C>A (n.-82C>A)
dbSNP gnomAD v3 gnomAD v4
Xg.154031241G>ACA415173214MECP2c.587C>T (p.Thr196Ile)
c.623C>T (p.Thr208Ile)
c.65+155C>T
c.514C>T (p.Pro172Ser)
c.575C>T (p.Thr192Ile)
c.478C>T (p.Pro160Ser)
c.308C>T (p.Thr103Ile)
c.-83C>T (n.-83C>T)
gnomAD v4
Xg.154031241G>CCA170334MECP2c.587C>G (p.Thr196Ser)
c.623C>G (p.Thr208Ser)
c.65+155C>G
c.514C>G (p.Pro172Ala)
c.575C>G (p.Thr192Ser)
c.478C>G (p.Pro160Ala)
c.308C>G (p.Thr103Ser)
c.-83C>G (n.-83C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031241G=CA2466570911MECP2c.587C= (p.Thr196=)
c.623C= (p.Thr208=)
c.65+155C=
c.514C= (p.Pro172=)
c.575C= (p.Thr192=)
c.478C= (p.Pro160=)
c.308C= (p.Thr103=)
c.-83C= (n.-83C=)
Xg.154031241G>TCA10558587MECP2c.587C>A (p.Thr196Asn)
c.623C>A (p.Thr208Asn)
c.65+155C>A
c.514C>A (p.Pro172Thr)
c.575C>A (p.Thr192Asn)
c.478C>A (p.Pro160Thr)
c.308C>A (p.Thr103Asn)
c.-83C>A (n.-83C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154031242T>ACA415173227MECP2c.586A>T (p.Thr196Ser)
c.622A>T (p.Thr208Ser)
c.65+154A>T
c.513A>T (p.Ala171=)
c.574A>T (p.Thr192Ser)
c.477A>T (p.Ala159=)
c.307A>T (p.Thr103Ser)
c.-84A>T (n.-84A>T)
Xg.154031242T>CCA415173243MECP2c.586A>G (p.Thr196Ala)
c.622A>G (p.Thr208Ala)
c.65+154A>G
c.513A>G (p.Ala171=)
c.574A>G (p.Thr192Ala)
c.477A>G (p.Ala159=)
c.307A>G (p.Thr103Ala)
c.-84A>G (n.-84A>G)
dbSNP gnomAD v3 gnomAD v4
Xg.154031242T>GCA415173247MECP2c.586A>C (p.Thr196Pro)
c.622A>C (p.Thr208Pro)
c.65+154A>C
c.513A>C (p.Ala171=)
c.574A>C (p.Thr192Pro)
c.477A>C (p.Ala159=)
c.307A>C (p.Thr103Pro)
c.-84A>C (n.-84A>C)
Xg.154031242T=CA2466570912MECP2c.586A= (p.Thr196=)
c.622A= (p.Thr208=)
c.65+154A=
c.513A= (p.Ala171=)
c.574A= (p.Thr192=)
c.477A= (p.Ala159=)
c.307A= (p.Thr103=)
c.-84A= (n.-84A=)
Xg.154031242dupCA2695237592MECP2c.586dup (p.Thr196AsnfsTer?)
c.622dup (p.Thr208AsnfsTer?)
c.65+154dup
c.513dup (p.Pro172ThrfsTer?)
c.574dup (p.Thr192AsnfsTer?)
c.477dup (p.Pro160ThrfsTer?)
c.307dup (p.Thr103AsnfsTer?)
c.-84dup (n.-84dup)
Xg.154031243G>ACA170331MECP2c.585C>T (p.Gly195=)
c.621C>T (p.Gly207=)
c.65+153C>T
c.512C>T (p.Ala171Val)
c.573C>T (p.Gly191=)
c.476C>T (p.Ala159Val)
c.306C>T (p.Gly102=)
c.-85C>T (n.-85C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031243G>CCA415173252MECP2c.585C>G (p.Gly195=)
c.621C>G (p.Gly207=)
c.65+153C>G
c.512C>G (p.Ala171Gly)
c.573C>G (p.Gly191=)
c.476C>G (p.Ala159Gly)
c.306C>G (p.Gly102=)
c.-85C>G (n.-85C>G)
Xg.154031243G=CA2466570913MECP2c.585C= (p.Gly195=)
c.621C= (p.Gly207=)
c.65+153C=
c.512C= (p.Ala171=)
c.573C= (p.Gly191=)
c.476C= (p.Ala159=)
c.306C= (p.Gly102=)
c.-85C= (n.-85C=)
Xg.154031243G>TCA415173255MECP2c.585C>A (p.Gly195=)
c.621C>A (p.Gly207=)
c.65+153C>A
c.512C>A (p.Ala171Glu)
c.573C>A (p.Gly191=)
c.476C>A (p.Ala159Glu)
c.306C>A (p.Gly102=)
c.-85C>A (n.-85C>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.154031244C>ACA415173262MECP2c.584G>T (p.Gly195Val)
c.620G>T (p.Gly207Val)
c.65+152G>T
c.511G>T (p.Ala171Ser)
c.572G>T (p.Gly191Val)
c.475G>T (p.Ala159Ser)
c.305G>T (p.Gly102Val)
c.-86G>T (n.-86G>T)
Xg.154031244C>GCA415173260MECP2c.584G>C (p.Gly195Ala)
c.620G>C (p.Gly207Ala)
c.65+152G>C
c.511G>C (p.Ala171Pro)
c.572G>C (p.Gly191Ala)
c.475G>C (p.Ala159Pro)
c.305G>C (p.Gly102Ala)
c.-86G>C (n.-86G>C)
Xg.154031244C>TCA415173258MECP2c.584G>A (p.Gly195Asp)
c.620G>A (p.Gly207Asp)
c.65+152G>A
c.511G>A (p.Ala171Thr)
c.572G>A (p.Gly191Asp)
c.475G>A (p.Ala159Thr)
c.305G>A (p.Gly102Asp)
c.-86G>A (n.-86G>A)
Xg.154031245C>ACA415173270MECP2c.583G>T (p.Gly195Cys)
c.619G>T (p.Gly207Cys)
c.65+151G>T
c.510G>T (p.Ala170=)
c.571G>T (p.Gly191Cys)
c.474G>T (p.Ala158=)
c.304G>T (p.Gly102Cys)
c.-87G>T (n.-87G>T)
Xg.154031245C=CA2466570914MECP2c.583G= (p.Gly195=)
c.619G= (p.Gly207=)
c.65+151G=
c.510G= (p.Ala170=)
c.571G= (p.Gly191=)
c.474G= (p.Ala158=)
c.304G= (p.Gly102=)
c.-87G= (n.-87G=)
Xg.154031245C>GCA415173279MECP2c.583G>C (p.Gly195Arg)
c.619G>C (p.Gly207Arg)
c.65+151G>C
c.510G>C (p.Ala170=)
c.571G>C (p.Gly191Arg)
c.474G>C (p.Ala158=)
c.304G>C (p.Gly102Arg)
c.-87G>C (n.-87G>C)
Xg.154031245C>TCA198827MECP2c.583G>A (p.Gly195Ser)
c.619G>A (p.Gly207Ser)
c.65+151G>A
c.510G>A (p.Ala170=)
c.571G>A (p.Gly191Ser)
c.474G>A (p.Ala158=)
c.304G>A (p.Gly102Ser)
c.-87G>A (n.-87G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154031246G>ACA148316MECP2c.582C>T (p.Ser194=)
c.618C>T (p.Ser206=)
c.65+150C>T
c.509C>T (p.Ala170Val)
c.570C>T (p.Ser190=)
c.473C>T (p.Ala158Val)
c.303C>T (p.Ser101=)
c.-88C>T (n.-88C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031246G>CCA415173284MECP2c.582C>G (p.Ser194Arg)
c.618C>G (p.Ser206Arg)
c.65+150C>G
c.509C>G (p.Ala170Gly)
c.570C>G (p.Ser190Arg)
c.473C>G (p.Ala158Gly)
c.303C>G (p.Ser101Arg)
c.-88C>G (n.-88C>G)
gnomAD v4
Xg.154031246G=CA2466570915MECP2c.582C= (p.Ser194=)
c.618C= (p.Ser206=)
c.65+150C=
c.509C= (p.Ala170=)
c.570C= (p.Ser190=)
c.473C= (p.Ala158=)
c.303C= (p.Ser101=)
c.-88C= (n.-88C=)
Xg.154031246G>TCA415173287MECP2c.582C>A (p.Ser194Arg)
c.618C>A (p.Ser206Arg)
c.65+150C>A
c.509C>A (p.Ala170Glu)
c.570C>A (p.Ser190Arg)
c.473C>A (p.Ala158Glu)
c.303C>A (p.Ser101Arg)
c.-88C>A (n.-88C>A)
Xg.154031246dupCA2573159388MECP2c.582dup (p.Gly195ArgfsTer?)
c.618dup (p.Gly207ArgfsTer?)
c.65+150dup
c.509dup (p.Ala171GlyfsTer?)
c.570dup (p.Gly191ArgfsTer?)
c.473dup (p.Ala159GlyfsTer?)
c.303dup (p.Gly102ArgfsTer?)
c.-88dup (n.-88dup)
ClinVar dbSNP
Xg.154031247C>ACA415173290MECP2c.581G>T (p.Ser194Ile)
c.617G>T (p.Ser206Ile)
c.65+149G>T
c.508G>T (p.Ala170Ser)
c.569G>T (p.Ser190Ile)
c.472G>T (p.Ala158Ser)
c.302G>T (p.Ser101Ile)
c.-89G>T (n.-89G>T)
Xg.154031247C>GCA415173292MECP2c.581G>C (p.Ser194Thr)
c.617G>C (p.Ser206Thr)
c.65+149G>C
c.508G>C (p.Ala170Pro)
c.569G>C (p.Ser190Thr)
c.472G>C (p.Ala158Pro)
c.302G>C (p.Ser101Thr)
c.-89G>C (n.-89G>C)
Xg.154031247C>TCA415173294MECP2c.581G>A (p.Ser194Asn)
c.617G>A (p.Ser206Asn)
c.65+149G>A
c.508G>A (p.Ala170Thr)
c.569G>A (p.Ser190Asn)
c.472G>A (p.Ala158Thr)
c.302G>A (p.Ser101Asn)
c.-89G>A (n.-89G>A)
Xg.154031248T>ACA415173300MECP2c.580A>T (p.Ser194Cys)
c.616A>T (p.Ser206Cys)
c.65+148A>T
c.507A>T (p.Gly169=)
c.568A>T (p.Ser190Cys)
c.471A>T (p.Gly157=)
c.301A>T (p.Ser101Cys)
c.-90A>T (n.-90A>T)
Xg.154031248T>CCA415173301MECP2c.580A>G (p.Ser194Gly)
c.616A>G (p.Ser206Gly)
c.65+148A>G
c.507A>G (p.Gly169=)
c.568A>G (p.Ser190Gly)
c.471A>G (p.Gly157=)
c.301A>G (p.Ser101Gly)
c.-90A>G (n.-90A>G)
Xg.154031248T>GCA415173303MECP2c.580A>C (p.Ser194Arg)
c.616A>C (p.Ser206Arg)
c.65+148A>C
c.507A>C (p.Gly169=)
c.568A>C (p.Ser190Arg)
c.471A>C (p.Gly157=)
c.301A>C (p.Ser101Arg)
c.-90A>C (n.-90A>C)
Xg.154031249C>ACA415173315MECP2c.579G>T (p.Gly193=)
c.615G>T (p.Gly205=)
c.65+147G>T
c.506G>T (p.Gly169Val)
c.567G>T (p.Gly189=)
c.470G>T (p.Gly157Val)
c.300G>T (p.Gly100=)
c.-91G>T (n.-91G>T)
Xg.154031249C>GCA415173307MECP2c.579G>C (p.Gly193=)
c.615G>C (p.Gly205=)
c.65+147G>C
c.506G>C (p.Gly169Ala)
c.567G>C (p.Gly189=)
c.470G>C (p.Gly157Ala)
c.300G>C (p.Gly100=)
c.-91G>C (n.-91G>C)
Xg.154031249C>TCA415173313MECP2c.579G>A (p.Gly193=)
c.615G>A (p.Gly205=)
c.65+147G>A
c.506G>A (p.Gly169Glu)
c.567G>A (p.Gly189=)
c.470G>A (p.Gly157Glu)
c.300G>A (p.Gly100=)
c.-91G>A (n.-91G>A)
ClinVar gnomAD v4
Xg.154031250C>ACA415173317MECP2c.578G>T (p.Gly193Val)
c.614G>T (p.Gly205Val)
c.65+146G>T
c.505G>T (p.Gly169Ter)
c.566G>T (p.Gly189Val)
c.469G>T (p.Gly157Ter)
c.299G>T (p.Gly100Val)
c.-92G>T (n.-92G>T)
Xg.154031250C>GCA415173320MECP2c.578G>C (p.Gly193Ala)
c.614G>C (p.Gly205Ala)
c.65+146G>C
c.505G>C (p.Gly169Arg)
c.566G>C (p.Gly189Ala)
c.469G>C (p.Gly157Arg)
c.299G>C (p.Gly100Ala)
c.-92G>C (n.-92G>C)
Xg.154031250C>TCA415173323MECP2c.578G>A (p.Gly193Glu)
c.614G>A (p.Gly205Glu)
c.65+146G>A
c.505G>A (p.Gly169Arg)
c.566G>A (p.Gly189Glu)
c.469G>A (p.Gly157Arg)
c.299G>A (p.Gly100Glu)
c.-92G>A (n.-92G>A)
gnomAD v4
Xg.154031251C>ACA415173326MECP2c.577G>T (p.Gly193Trp)
c.613G>T (p.Gly205Trp)
c.65+145G>T
c.504G>T (p.Lys168Asn)
c.565G>T (p.Gly189Trp)
c.468G>T (p.Lys156Asn)
c.298G>T (p.Gly100Trp)
c.-93G>T (n.-93G>T)
dbSNP gnomAD v3 gnomAD v4
Xg.154031251C=CA2466570916MECP2c.577G= (p.Gly193=)
c.613G= (p.Gly205=)
c.65+145G=
c.504G= (p.Lys168=)
c.565G= (p.Gly189=)
c.468G= (p.Lys156=)
c.298G= (p.Gly100=)
c.-93G= (n.-93G=)
Xg.154031251C>GCA415173328MECP2c.577G>C (p.Gly193Arg)
c.613G>C (p.Gly205Arg)
c.65+145G>C
c.504G>C (p.Lys168Asn)
c.565G>C (p.Gly189Arg)
c.468G>C (p.Lys156Asn)
c.298G>C (p.Gly100Arg)
c.-93G>C (n.-93G>C)
Xg.154031251C>TCA415173331MECP2c.577G>A (p.Gly193Arg)
c.613G>A (p.Gly205Arg)
c.65+145G>A
c.504G>A (p.Lys168=)
c.565G>A (p.Gly189Arg)
c.468G>A (p.Lys156=)
c.298G>A (p.Gly100Arg)
c.-93G>A (n.-93G>A)
Xg.154031252T>ACA415173332MECP2c.576A>T (p.Lys192Asn)
c.612A>T (p.Lys204Asn)
c.65+144A>T
c.503A>T (p.Lys168Met)
c.564A>T (p.Lys188Asn)
c.467A>T (p.Lys156Met)
c.297A>T (p.Lys99Asn)
c.-94A>T (n.-94A>T)
Xg.154031252T>CCA415173333MECP2c.576A>G (p.Lys192=)
c.612A>G (p.Lys204=)
c.65+144A>G
c.503A>G (p.Lys168Arg)
c.564A>G (p.Lys188=)
c.467A>G (p.Lys156Arg)
c.297A>G (p.Lys99=)
c.-94A>G (n.-94A>G)
Xg.154031252T>GCA415173335MECP2c.576A>C (p.Lys192Asn)
c.612A>C (p.Lys204Asn)
c.65+144A>C
c.503A>C (p.Lys168Thr)
c.564A>C (p.Lys188Asn)
c.467A>C (p.Lys156Thr)
c.297A>C (p.Lys99Asn)
c.-94A>C (n.-94A>C)
Xg.154031253T>ACA415173346MECP2c.575A>T (p.Lys192Ile)
c.611A>T (p.Lys204Ile)
c.65+143A>T
c.502A>T (p.Lys168Ter)
c.563A>T (p.Lys188Ile)
c.466A>T (p.Lys156Ter)
c.296A>T (p.Lys99Ile)
c.-95A>T (n.-95A>T)
Xg.154031253T>CCA415173349MECP2c.575A>G (p.Lys192Arg)
c.611A>G (p.Lys204Arg)
c.65+143A>G
c.502A>G (p.Lys168Glu)
c.563A>G (p.Lys188Arg)
c.466A>G (p.Lys156Glu)
c.296A>G (p.Lys99Arg)
c.-95A>G (n.-95A>G)
gnomAD v4
Xg.154031253T>GCA415173350MECP2c.575A>C (p.Lys192Thr)
c.611A>C (p.Lys204Thr)
c.65+143A>C
c.502A>C (p.Lys168Gln)
c.563A>C (p.Lys188Thr)
c.466A>C (p.Lys156Gln)
c.296A>C (p.Lys99Thr)
c.-95A>C (n.-95A>C)
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)
ClinVar 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
Xg.154031260G>ACA294710MECP2c.568C>T (p.Arg190Cys)
c.604C>T (p.Arg202Cys)
c.65+136C>T
c.495C>T (p.Asp165=)
c.556C>T (p.Arg186Cys)
c.459C>T (p.Asp153=)
c.289C>T (p.Arg97Cys)
c.-102C>T (n.-102C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154031260G>CCA415173408MECP2c.568C>G (p.Arg190Gly)
c.604C>G (p.Arg202Gly)
c.65+136C>G
c.495C>G (p.Asp165Glu)
c.556C>G (p.Arg186Gly)
c.459C>G (p.Asp153Glu)
c.289C>G (p.Arg97Gly)
c.-102C>G (n.-102C>G)
Xg.154031260G=CA2466570922MECP2c.568C= (p.Arg190=)
c.604C= (p.Arg202=)
c.65+136C=
c.495C= (p.Asp165=)
c.556C= (p.Arg186=)
c.459C= (p.Asp153=)
c.289C= (p.Arg97=)
c.-102C= (n.-102C=)
Xg.154031260G>TCA415173411MECP2c.568C>A (p.Arg190Ser)
c.604C>A (p.Arg202Ser)
c.65+136C>A
c.495C>A (p.Asp165Glu)
c.556C>A (p.Arg186Ser)
c.459C>A (p.Asp153Glu)
c.289C>A (p.Arg97Ser)
c.-102C>A (n.-102C>A)
Xg.154031261T>ACA415173416MECP2c.567A>T (p.Gly189=)
c.603A>T (p.Gly201=)
c.65+135A>T
c.494A>T (p.Asp165Val)
c.555A>T (p.Gly185=)
c.458A>T (p.Asp153Val)
c.288A>T (p.Gly96=)
c.-103A>T (n.-103A>T)
Xg.154031261T>CCA415173418MECP2c.567A>G (p.Gly189=)
c.603A>G (p.Gly201=)
c.65+135A>G
c.494A>G (p.Asp165Gly)
c.555A>G (p.Gly185=)
c.458A>G (p.Asp153Gly)
c.288A>G (p.Gly96=)
c.-103A>G (n.-103A>G)
dbSNP gnomAD v2 gnomAD v4
Xg.154031261T>GCA415173419MECP2c.567A>C (p.Gly189=)
c.603A>C (p.Gly201=)
c.65+135A>C
c.494A>C (p.Asp165Ala)
c.555A>C (p.Gly185=)
c.458A>C (p.Asp153Ala)
c.288A>C (p.Gly96=)
c.-103A>C (n.-103A>C)
Xg.154031261T=CA2466570924MECP2c.567A= (p.Gly189=)
c.603A= (p.Gly201=)
c.65+135A=
c.494A= (p.Asp165=)
c.555A= (p.Gly185=)
c.458A= (p.Asp153=)
c.288A= (p.Gly96=)
c.-103A= (n.-103A=)
Xg.154031261dupCA270472MECP2c.567dup (p.Arg190ThrfsTer?)
c.603dup (p.Arg202ThrfsTer?)
c.65+135dup
c.494dup (p.Asp165GlufsTer?)
c.555dup (p.Arg186ThrfsTer?)
c.458dup (p.Asp153GlufsTer?)
c.288dup (p.Arg97ThrfsTer?)
c.-103dup (n.-103dup)
ClinVar dbSNP
Xg.154031261_154031262delinsTCCA2466570923MECP2c.566_567delinsGA (p.Gly189=)
c.602_603delinsGA (p.Gly201=)
c.65+134_65+135delinsGA
c.493_494delinsGA (p.Asp165=)
c.554_555delinsGA (p.Gly185=)
c.457_458delinsGA (p.Asp153=)
c.287_288delinsGA (p.Gly96=)
c.-104_-103delinsGA (n.-104_-103delinsGA)
Xg.154031262C>ACA415173420MECP2c.566G>T (p.Gly189Val)
c.602G>T (p.Gly201Val)
c.65+134G>T
c.493G>T (p.Asp165Tyr)
c.554G>T (p.Gly185Val)
c.457G>T (p.Asp153Tyr)
c.287G>T (p.Gly96Val)
c.-104G>T (n.-104G>T)
dbSNP
Xg.154031262C=CA2466570925MECP2c.566G= (p.Gly189=)
c.602G= (p.Gly201=)
c.65+134G=
c.493G= (p.Asp165=)
c.554G= (p.Gly185=)
c.457G= (p.Asp153=)
c.287G= (p.Gly96=)
c.-104G= (n.-104G=)
Xg.154031262C>GCA415173422MECP2c.566G>C (p.Gly189Ala)
c.602G>C (p.Gly201Ala)
c.65+134G>C
c.493G>C (p.Asp165His)
c.554G>C (p.Gly185Ala)
c.457G>C (p.Asp153His)
c.287G>C (p.Gly96Ala)
c.-104G>C (n.-104G>C)
Xg.154031262C>TCA415173424MECP2c.566G>A (p.Gly189Glu)
c.602G>A (p.Gly201Glu)
c.65+134G>A
c.493G>A (p.Asp165Asn)
c.554G>A (p.Gly185Glu)
c.457G>A (p.Asp153Asn)
c.287G>A (p.Gly96Glu)
c.-104G>A (n.-104G>A)
Xg.154031265dupCA270471MECP2c.566dup (p.Arg190ThrfsTer?)
c.602dup (p.Arg202ThrfsTer?)
c.65+134dup
c.493dup (p.Asp165GlyfsTer?)
c.554dup (p.Arg186ThrfsTer?)
c.457dup (p.Asp153GlyfsTer?)
c.287dup (p.Arg97ThrfsTer?)
c.-104dup (n.-104dup)
ClinVar dbSNP
Xg.154031265delCA270470MECP2c.566del (p.Gly189AspfsTer21)
c.602del (p.Gly201AspfsTer21)
c.65+134del
c.493del (p.Asp165ThrfsTer?)
c.554del (p.Gly185AspfsTer21)
c.457del (p.Asp153ThrfsTer?)
c.287del (p.Gly96AspfsTer21)
c.-104del (n.-104del)
ClinVar dbSNP
Xg.154031263C>ACA415173449MECP2c.565G>T (p.Gly189Ter)
c.601G>T (p.Gly201Ter)
c.65+133G>T
c.492G>T (p.Gly164=)
c.553G>T (p.Gly185Ter)
c.456G>T (p.Gly152=)
c.286G>T (p.Gly96Ter)
c.-105G>T (n.-105G>T)
Xg.154031263C>GCA415173452MECP2c.565G>C (p.Gly189Arg)
c.601G>C (p.Gly201Arg)
c.65+133G>C
c.492G>C (p.Gly164=)
c.553G>C (p.Gly185Arg)
c.456G>C (p.Gly152=)
c.286G>C (p.Gly96Arg)
c.-105G>C (n.-105G>C)
Xg.154031263C>TCA415173433MECP2c.565G>A (p.Gly189Arg)
c.601G>A (p.Gly201Arg)
c.65+133G>A
c.492G>A (p.Gly164=)
c.553G>A (p.Gly185Arg)
c.456G>A (p.Gly152=)
c.286G>A (p.Gly96Arg)
c.-105G>A (n.-105G>A)
Xg.154031264C>ACA415173453MECP2c.564G>T (p.Arg188=)
c.600G>T (p.Arg200=)
c.65+132G>T
c.491G>T (p.Gly164Val)
c.552G>T (p.Arg184=)
c.455G>T (p.Gly152Val)
c.285G>T (p.Arg95=)
c.-106G>T (n.-106G>T)
Xg.154031264C>GCA415173455MECP2c.564G>C (p.Arg188=)
c.600G>C (p.Arg200=)
c.65+132G>C
c.491G>C (p.Gly164Ala)
c.552G>C (p.Arg184=)
c.455G>C (p.Gly152Ala)
c.285G>C (p.Arg95=)
c.-106G>C (n.-106G>C)
Xg.154031264C>TCA415173462MECP2c.564G>A (p.Arg188=)
c.600G>A (p.Arg200=)
c.65+132G>A
c.491G>A (p.Gly164Glu)
c.552G>A (p.Arg184=)
c.455G>A (p.Gly152Glu)
c.285G>A (p.Arg95=)
c.-106G>A (n.-106G>A)
ClinVar dbSNP
Xg.154031265C>ACA415173465MECP2c.563G>T (p.Arg188Leu)
c.599G>T (p.Arg200Leu)
c.65+131G>T
c.490G>T (p.Gly164Trp)
c.551G>T (p.Arg184Leu)
c.454G>T (p.Gly152Trp)
c.284G>T (p.Arg95Leu)
c.-107G>T (n.-107G>T)
Xg.154031265C=CA2466570926MECP2c.563G= (p.Arg188=)
c.599G= (p.Arg200=)
c.65+131G=
c.490G= (p.Gly164=)
c.551G= (p.Arg184=)
c.454G= (p.Gly152=)
c.284G= (p.Arg95=)
c.-107G= (n.-107G=)
Xg.154031265C>GCA415173468MECP2c.563G>C (p.Arg188Pro)
c.599G>C (p.Arg200Pro)
c.65+131G>C
c.490G>C (p.Gly164Arg)
c.551G>C (p.Arg184Pro)
c.454G>C (p.Gly152Arg)
c.284G>C (p.Arg95Pro)
c.-107G>C (n.-107G>C)
Xg.154031265C>TCA415173472MECP2c.563G>A (p.Arg188Gln)
c.599G>A (p.Arg200Gln)
c.65+131G>A
c.490G>A (p.Gly164Arg)
c.551G>A (p.Arg184Gln)
c.454G>A (p.Gly152Arg)
c.284G>A (p.Arg95Gln)
c.-107G>A (n.-107G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031266G>ACA10558590MECP2c.562C>T (p.Arg188Trp)
c.598C>T (p.Arg200Trp)
c.65+130C>T
c.489C>T (p.Ala163=)
c.550C>T (p.Arg184Trp)
c.453C>T (p.Ala151=)
c.283C>T (p.Arg95Trp)
c.-108C>T (n.-108C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031266G>CCA415173534MECP2c.562C>G (p.Arg188Gly)
c.598C>G (p.Arg200Gly)
c.65+130C>G
c.489C>G (p.Ala163=)
c.550C>G (p.Arg184Gly)
c.453C>G (p.Ala151=)
c.283C>G (p.Arg95Gly)
c.-108C>G (n.-108C>G)
Xg.154031266G=CA2466570927MECP2c.562C= (p.Arg188=)
c.598C= (p.Arg200=)
c.65+130C=
c.489C= (p.Ala163=)
c.550C= (p.Arg184=)
c.453C= (p.Ala151=)
c.283C= (p.Arg95=)
c.-108C= (n.-108C=)
Xg.154031266G>TCA519705669MECP2c.562C>A (p.Arg188=)
c.598C>A (p.Arg200=)
c.65+130C>A
c.489C>A (p.Ala163=)
c.550C>A (p.Arg184=)
c.453C>A (p.Ala151=)
c.283C>A (p.Arg95=)
c.-108C>A (n.-108C>A)
Xg.154031267G>ACA415173580MECP2c.561C>T (p.Gly187=)
c.597C>T (p.Gly199=)
c.65+129C>T
c.488C>T (p.Ala163Val)
c.549C>T (p.Gly183=)
c.452C>T (p.Ala151Val)
c.282C>T (p.Gly94=)
c.-109C>T (n.-109C>T)
Xg.154031267G>CCA415173584MECP2c.561C>G (p.Gly187=)
c.597C>G (p.Gly199=)
c.65+129C>G
c.488C>G (p.Ala163Gly)
c.549C>G (p.Gly183=)
c.452C>G (p.Ala151Gly)
c.282C>G (p.Gly94=)
c.-109C>G (n.-109C>G)
Xg.154031267G=CA2466570928MECP2c.561C= (p.Gly187=)
c.597C= (p.Gly199=)
c.65+129C=
c.488C= (p.Ala163=)
c.549C= (p.Gly183=)
c.452C= (p.Ala151=)
c.282C= (p.Gly94=)
c.-109C= (n.-109C=)
Xg.154031267G>TCA16616642MECP2c.561C>A (p.Gly187=)
c.597C>A (p.Gly199=)
c.65+129C>A
c.488C>A (p.Ala163Asp)
c.549C>A (p.Gly183=)
c.452C>A (p.Ala151Asp)
c.282C>A (p.Gly94=)
c.-109C>A (n.-109C>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.154031268C>ACA415173604MECP2c.560G>T (p.Gly187Val)
c.596G>T (p.Gly199Val)
c.65+128G>T
c.487G>T (p.Ala163Ser)
c.548G>T (p.Gly183Val)
c.451G>T (p.Ala151Ser)
c.281G>T (p.Gly94Val)
c.-110G>T (n.-110G>T)
Xg.154031268C>GCA415173596MECP2c.560G>C (p.Gly187Ala)
c.596G>C (p.Gly199Ala)
c.65+128G>C
c.487G>C (p.Ala163Pro)
c.548G>C (p.Gly183Ala)
c.451G>C (p.Ala151Pro)
c.281G>C (p.Gly94Ala)
c.-110G>C (n.-110G>C)
Xg.154031268C>TCA415173600MECP2c.560G>A (p.Gly187Asp)
c.596G>A (p.Gly199Asp)
c.65+128G>A
c.487G>A (p.Ala163Thr)
c.548G>A (p.Gly183Asp)
c.451G>A (p.Ala151Thr)
c.281G>A (p.Gly94Asp)
c.-110G>A (n.-110G>A)
Xg.154031269C>ACA415173622MECP2c.559G>T (p.Gly187Cys)
c.595G>T (p.Gly199Cys)
c.65+127G>T
c.486G>T (p.Glu162Asp)
n.2907G>T
c.547G>T (p.Gly183Cys)
c.450G>T (p.Glu150Asp)
c.280G>T (p.Gly94Cys)
c.-111G>T (n.-111G>T)
Xg.154031269C>GCA415173631MECP2c.559G>C (p.Gly187Arg)
c.595G>C (p.Gly199Arg)
c.65+127G>C
c.486G>C (p.Glu162Asp)
n.2907G>C
c.547G>C (p.Gly183Arg)
c.450G>C (p.Glu150Asp)
c.280G>C (p.Gly94Arg)
c.-111G>C (n.-111G>C)
Xg.154031269C>TCA415173637MECP2c.559G>A (p.Gly187Ser)
c.595G>A (p.Gly199Ser)
c.65+127G>A
c.486G>A (p.Glu162=)
n.2907G>A
c.547G>A (p.Gly183Ser)
c.450G>A (p.Glu150=)
c.280G>A (p.Gly94Ser)
c.-111G>A (n.-111G>A)
Xg.154031270T>ACA415173639MECP2c.558A>T (p.Arg186Ser)
c.594A>T (p.Arg198Ser)
c.65+126A>T
c.485A>T (p.Glu162Val)
n.2906A>T
c.546A>T (p.Arg182Ser)
c.449A>T (p.Glu150Val)
c.279A>T (p.Arg93Ser)
c.-112A>T (n.-112A>T)
Xg.154031270T>CCA415173640MECP2c.558A>G (p.Arg186=)
c.594A>G (p.Arg198=)
c.65+126A>G
c.485A>G (p.Glu162Gly)
n.2906A>G
c.546A>G (p.Arg182=)
c.449A>G (p.Glu150Gly)
c.279A>G (p.Arg93=)
c.-112A>G (n.-112A>G)
Xg.154031270T>GCA415173641MECP2c.558A>C (p.Arg186Ser)
c.594A>C (p.Arg198Ser)
c.65+126A>C
c.485A>C (p.Glu162Ala)
n.2906A>C
c.546A>C (p.Arg182Ser)
c.449A>C (p.Glu150Ala)
c.279A>C (p.Arg93Ser)
c.-112A>C (n.-112A>C)
Xg.154031271C>ACA415173642MECP2c.557G>T (p.Arg186Ile)
c.593G>T (p.Arg198Ile)
c.65+125G>T
c.484G>T (p.Glu162Ter)
n.2905G>T
c.545G>T (p.Arg182Ile)
c.448G>T (p.Glu150Ter)
c.278G>T (p.Arg93Ile)
c.-113G>T (n.-113G>T)
Xg.154031271C>GCA415173644MECP2c.557G>C (p.Arg186Thr)
c.593G>C (p.Arg198Thr)
c.65+125G>C
c.484G>C (p.Glu162Gln)
n.2905G>C
c.545G>C (p.Arg182Thr)
c.448G>C (p.Glu150Gln)
c.278G>C (p.Arg93Thr)
c.-113G>C (n.-113G>C)
Xg.154031271C>TCA415173645MECP2c.557G>A (p.Arg186Lys)
c.593G>A (p.Arg198Lys)
c.65+125G>A
c.484G>A (p.Glu162Lys)
n.2905G>A
c.545G>A (p.Arg182Lys)
c.448G>A (p.Glu150Lys)
c.278G>A (p.Arg93Lys)
c.-113G>A (n.-113G>A)
Xg.154031272T>ACA294707MECP2c.556A>T (p.Arg186Ter)
c.592A>T (p.Arg198Ter)
c.65+124A>T
c.483A>T (p.Ala161=)
n.2904A>T
c.544A>T (p.Arg182Ter)
c.447A>T (p.Ala149=)
c.277A>T (p.Arg93Ter)
c.-114A>T (n.-114A>T)
ClinVar dbSNP
Xg.154031272T>CCA415173655MECP2c.556A>G (p.Arg186Gly)
c.592A>G (p.Arg198Gly)
c.65+124A>G
c.483A>G (p.Ala161=)
n.2904A>G
c.544A>G (p.Arg182Gly)
c.447A>G (p.Ala149=)
c.277A>G (p.Arg93Gly)
c.-114A>G (n.-114A>G)
Xg.154031272T>GCA519705674MECP2c.556A>C (p.Arg186=)
c.592A>C (p.Arg198=)
c.65+124A>C
c.483A>C (p.Ala161=)
n.2904A>C
c.544A>C (p.Arg182=)
c.447A>C (p.Ala149=)
c.277A>C (p.Arg93=)
c.-114A>C (n.-114A>C)
Xg.154031272T=CA2466570929MECP2c.556A= (p.Arg186=)
c.592A= (p.Arg198=)
c.65+124A=
c.483A= (p.Ala161=)
n.2904A=
c.544A= (p.Arg182=)
c.447A= (p.Ala149=)
c.277A= (p.Arg93=)
c.-114A= (n.-114A=)
Xg.154031273G>ACA10558591MECP2c.555C>T (p.Gly185=)
c.591C>T (p.Gly197=)
c.65+123C>T
c.482C>T (p.Ala161Val)
n.2903C>T
c.543C>T (p.Gly181=)
c.446C>T (p.Ala149Val)
c.276C>T (p.Gly92=)
c.-115C>T (n.-115C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031273G>CCA415173658MECP2c.555C>G (p.Gly185=)
c.591C>G (p.Gly197=)
c.65+123C>G
c.482C>G (p.Ala161Gly)
n.2903C>G
c.543C>G (p.Gly181=)
c.446C>G (p.Ala149Gly)
c.276C>G (p.Gly92=)
c.-115C>G (n.-115C>G)
Xg.154031273G=CA2466570931MECP2c.555C= (p.Gly185=)
c.591C= (p.Gly197=)
c.65+123C=
c.482C= (p.Ala161=)
n.2903C=
c.543C= (p.Gly181=)
c.446C= (p.Ala149=)
c.276C= (p.Gly92=)
c.-115C= (n.-115C=)
Xg.154031273G>TCA10558592MECP2c.555C>A (p.Gly185=)
c.591C>A (p.Gly197=)
c.65+123C>A
c.482C>A (p.Ala161Glu)
n.2903C>A
c.543C>A (p.Gly181=)
c.446C>A (p.Ala149Glu)
c.276C>A (p.Gly92=)
c.-115C>A (n.-115C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
Xg.154031273_154031274delinsGCCA2466570930MECP2c.554_555delinsGC (p.Gly185=)
c.590_591delinsGC (p.Gly197=)
c.65+122_65+123delinsGC
c.481_482delinsGC (p.Ala161=)
n.2902_2903delinsGC
c.542_543delinsGC (p.Gly181=)
c.445_446delinsGC (p.Ala149=)
c.275_276delinsGC (p.Gly92=)
c.-116_-115delinsGC (n.-116_-115delinsGC)
Xg.154031274C>ACA415173660MECP2c.554G>T (p.Gly185Val)
c.590G>T (p.Gly197Val)
c.65+122G>T
c.481G>T (p.Ala161Ser)
n.2902G>T
c.542G>T (p.Gly181Val)
c.445G>T (p.Ala149Ser)
c.275G>T (p.Gly92Val)
c.-116G>T (n.-116G>T)
gnomAD v4
Xg.154031274C>GCA415173661MECP2c.554G>C (p.Gly185Ala)
c.590G>C (p.Gly197Ala)
c.65+122G>C
c.481G>C (p.Ala161Pro)
n.2902G>C
c.542G>C (p.Gly181Ala)
c.445G>C (p.Ala149Pro)
c.275G>C (p.Gly92Ala)
c.-116G>C (n.-116G>C)
Xg.154031274C>TCA415173662MECP2c.554G>A (p.Gly185Asp)
c.590G>A (p.Gly197Asp)
c.65+122G>A
c.481G>A (p.Ala161Thr)
n.2902G>A
c.542G>A (p.Gly181Asp)
c.445G>A (p.Ala149Thr)
c.275G>A (p.Gly92Asp)
c.-116G>A (n.-116G>A)
Xg.154031275delCA270466MECP2c.554del (p.Gly185AlafsTer25)
c.590del (p.Gly197AlafsTer25)
c.65+122del
c.481del (p.Ala161GlnfsTer?)
n.2902del
c.542del (p.Gly181AlafsTer25)
c.445del (p.Ala149GlnfsTer?)
c.275del (p.Gly92AlafsTer25)
c.-116del (n.-116del)
ClinVar dbSNP
Xg.154031275C>ACA415173667MECP2c.553G>T (p.Gly185Cys)
c.589G>T (p.Gly197Cys)
c.65+121G>T
c.480G>T (p.Leu160=)
n.2901G>T
c.541G>T (p.Gly181Cys)
c.444G>T (p.Leu148=)
c.274G>T (p.Gly92Cys)
c.-117G>T (n.-117G>T)
ClinVar
Xg.154031275C=CA2466570932MECP2c.553G= (p.Gly185=)
c.589G= (p.Gly197=)
c.65+121G=
c.480G= (p.Leu160=)
n.2901G=
c.541G= (p.Gly181=)
c.444G= (p.Leu148=)
c.274G= (p.Gly92=)
c.-117G= (n.-117G=)
Xg.154031275C>GCA415173666MECP2c.553G>C (p.Gly185Arg)
c.589G>C (p.Gly197Arg)
c.65+121G>C
c.480G>C (p.Leu160=)
n.2901G>C
c.541G>C (p.Gly181Arg)
c.444G>C (p.Leu148=)
c.274G>C (p.Gly92Arg)
c.-117G>C (n.-117G>C)
Xg.154031275C>TCA294704MECP2c.553G>A (p.Gly185Ser)
c.589G>A (p.Gly197Ser)
c.65+121G>A
c.480G>A (p.Leu160=)
n.2901G>A
c.541G>A (p.Gly181Ser)
c.444G>A (p.Leu148=)
c.274G>A (p.Gly92Ser)
c.-117G>A (n.-117G>A)
ClinVar dbSNP
Xg.154031276A>CCA415173670MECP2c.552T>G (p.Thr184=)
c.588T>G (p.Thr196=)
c.65+120T>G
c.479T>G (p.Leu160Arg)
n.2900T>G
c.540T>G (p.Thr180=)
c.443T>G (p.Leu148Arg)
c.273T>G (p.Thr91=)
c.-118T>G (n.-118T>G)
Xg.154031276A>GCA415173672MECP2c.552T>C (p.Thr184=)
c.588T>C (p.Thr196=)
c.65+120T>C
c.479T>C (p.Leu160Pro)
n.2900T>C
c.540T>C (p.Thr180=)
c.443T>C (p.Leu148Pro)
c.273T>C (p.Thr91=)
c.-118T>C (n.-118T>C)
gnomAD v4
Xg.154031276A>TCA415173677MECP2c.552T>A (p.Thr184=)
c.588T>A (p.Thr196=)
c.65+120T>A
c.479T>A (p.Leu160Gln)
n.2900T>A
c.540T>A (p.Thr180=)
c.443T>A (p.Leu148Gln)
c.273T>A (p.Thr91=)
c.-118T>A (n.-118T>A)
Xg.154031277G>ACA415173678MECP2c.551C>T (p.Thr184Ile)
c.587C>T (p.Thr196Ile)
c.65+119C>T
c.478C>T (p.Leu160=)
n.2899C>T
c.539C>T (p.Thr180Ile)
c.442C>T (p.Leu148=)
c.272C>T (p.Thr91Ile)
c.-119C>T (n.-119C>T)
Xg.154031277G>CCA10558593MECP2c.551C>G (p.Thr184Ser)
c.587C>G (p.Thr196Ser)
c.65+119C>G
c.478C>G (p.Leu160Val)
n.2899C>G
c.539C>G (p.Thr180Ser)
c.442C>G (p.Leu148Val)
c.272C>G (p.Thr91Ser)
c.-119C>G (n.-119C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031277G=CA2466570933MECP2c.551C= (p.Thr184=)
c.587C= (p.Thr196=)
c.65+119C=
c.478C= (p.Leu160=)
n.2899C=
c.539C= (p.Thr180=)
c.442C= (p.Leu148=)
c.272C= (p.Thr91=)
c.-119C= (n.-119C=)
Xg.154031277G>TCA415173687MECP2c.551C>A (p.Thr184Asn)
c.587C>A (p.Thr196Asn)
c.65+119C>A
c.478C>A (p.Leu160Met)
n.2899C>A
c.539C>A (p.Thr180Asn)
c.442C>A (p.Leu148Met)
c.272C>A (p.Thr91Asn)
c.-119C>A (n.-119C>A)
Xg.154031278T>ACA415173706MECP2c.550A>T (p.Thr184Ser)
c.586A>T (p.Thr196Ser)
c.65+118A>T
c.477A>T (p.Glu159Asp)
n.2898A>T
c.538A>T (p.Thr180Ser)
c.441A>T (p.Glu147Asp)
c.271A>T (p.Thr91Ser)
c.-120A>T (n.-120A>T)
Xg.154031278T>CCA415173700MECP2c.550A>G (p.Thr184Ala)
c.586A>G (p.Thr196Ala)
c.65+118A>G
c.477A>G (p.Glu159=)
n.2898A>G
c.538A>G (p.Thr180Ala)
c.441A>G (p.Glu147=)
c.271A>G (p.Thr91Ala)
c.-120A>G (n.-120A>G)
dbSNP
Xg.154031278T>GCA415173702MECP2c.550A>C (p.Thr184Pro)
c.586A>C (p.Thr196Pro)
c.65+118A>C
c.477A>C (p.Glu159Asp)
n.2898A>C
c.538A>C (p.Thr180Pro)
c.441A>C (p.Glu147Asp)
c.271A>C (p.Thr91Pro)
c.-120A>C (n.-120A>C)
COSMIC
Xg.154031278T=CA2466570934MECP2c.550A= (p.Thr184=)
c.586A= (p.Thr196=)
c.65+118A=
c.477A= (p.Glu159=)
n.2898A=
c.538A= (p.Thr180=)
c.441A= (p.Glu147=)
c.271A= (p.Thr91=)
c.-120A= (n.-120A=)
Xg.154031279T>ACA415173708MECP2c.549A>T (p.Gly183=)
c.585A>T (p.Gly195=)
c.65+117A>T
c.476A>T (p.Glu159Val)
n.2897A>T
c.537A>T (p.Gly179=)
c.440A>T (p.Glu147Val)
c.270A>T (p.Gly90=)
c.-121A>T (n.-121A>T)
Xg.154031279T>CCA415173711MECP2c.549A>G (p.Gly183=)
c.585A>G (p.Gly195=)
c.65+117A>G
c.476A>G (p.Glu159Gly)
n.2897A>G
c.537A>G (p.Gly179=)
c.440A>G (p.Glu147Gly)
c.270A>G (p.Gly90=)
c.-121A>G (n.-121A>G)
Xg.154031279T>GCA415173719MECP2c.549A>C (p.Gly183=)
c.585A>C (p.Gly195=)
c.65+117A>C
c.476A>C (p.Glu159Ala)
n.2897A>C
c.537A>C (p.Gly179=)
c.440A>C (p.Glu147Ala)
c.270A>C (p.Gly90=)
c.-121A>C (n.-121A>C)
Xg.154031280C>ACA415173721MECP2c.548G>T (p.Gly183Val)
c.584G>T (p.Gly195Val)
c.65+116G>T
c.475G>T (p.Glu159Ter)
n.2896G>T
c.536G>T (p.Gly179Val)
c.439G>T (p.Glu147Ter)
c.269G>T (p.Gly90Val)
c.-122G>T (n.-122G>T)
Xg.154031280C>GCA415173725MECP2c.548G>C (p.Gly183Ala)
c.584G>C (p.Gly195Ala)
c.65+116G>C
c.475G>C (p.Glu159Gln)
n.2896G>C
c.536G>C (p.Gly179Ala)
c.439G>C (p.Glu147Gln)
c.269G>C (p.Gly90Ala)
c.-122G>C (n.-122G>C)
Xg.154031280C>TCA415173727MECP2c.548G>A (p.Gly183Glu)
c.584G>A (p.Gly195Glu)
c.65+116G>A
c.475G>A (p.Glu159Lys)
n.2896G>A
c.536G>A (p.Gly179Glu)
c.439G>A (p.Glu147Lys)
c.269G>A (p.Gly90Glu)
c.-122G>A (n.-122G>A)
Xg.154031281C>ACA415173730MECP2c.547G>T (p.Gly183Ter)
c.583G>T (p.Gly195Ter)
c.65+115G>T
c.474G>T (p.Gln158His)
n.2895G>T
c.535G>T (p.Gly179Ter)
c.438G>T (p.Gln146His)
c.268G>T (p.Gly90Ter)
c.-123G>T (n.-123G>T)
Xg.154031281C=CA2466570935MECP2c.547G= (p.Gly183=)
c.583G= (p.Gly195=)
c.65+115G=
c.474G= (p.Gln158=)
n.2895G=
c.535G= (p.Gly179=)
c.438G= (p.Gln146=)
c.268G= (p.Gly90=)
c.-123G= (n.-123G=)
Xg.154031281C>GCA170325MECP2c.547G>C (p.Gly183Arg)
c.583G>C (p.Gly195Arg)
c.65+115G>C
c.474G>C (p.Gln158His)
n.2895G>C
c.535G>C (p.Gly179Arg)
c.438G>C (p.Gln146His)
c.268G>C (p.Gly90Arg)
c.-123G>C (n.-123G>C)
ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.154031281C>TCA415173745MECP2c.547G>A (p.Gly183Arg)
c.583G>A (p.Gly195Arg)
c.65+115G>A
c.474G>A (p.Gln158=)
n.2895G>A
c.535G>A (p.Gly179Arg)
c.438G>A (p.Gln146=)
c.268G>A (p.Gly90Arg)
c.-123G>A (n.-123G>A)
Xg.154031282T>ACA415173748MECP2c.546A>T (p.Pro182=)
c.582A>T (p.Pro194=)
c.65+114A>T
c.473A>T (p.Gln158Leu)
n.2894A>T
c.534A>T (p.Pro178=)
c.437A>T (p.Gln146Leu)
c.267A>T (p.Pro89=)
c.-124A>T (n.-124A>T)
Xg.154031282T>CCA415173749MECP2c.546A>G (p.Pro182=)
c.582A>G (p.Pro194=)
c.65+114A>G
c.473A>G (p.Gln158Arg)
n.2894A>G
c.534A>G (p.Pro178=)
c.437A>G (p.Gln146Arg)
c.267A>G (p.Pro89=)
c.-124A>G (n.-124A>G)
ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.154031282T>GCA415173750MECP2c.546A>C (p.Pro182=)
c.582A>C (p.Pro194=)
c.65+114A>C
c.473A>C (p.Gln158Pro)
n.2894A>C
c.534A>C (p.Pro178=)
c.437A>C (p.Gln146Pro)
c.267A>C (p.Pro89=)
c.-124A>C (n.-124A>C)
Xg.154031282T=CA2466570936MECP2c.546A= (p.Pro182=)
c.582A= (p.Pro194=)
c.65+114A=
c.473A= (p.Gln158=)
n.2894A=
c.534A= (p.Pro178=)
c.437A= (p.Gln146=)
c.267A= (p.Pro89=)
c.-124A= (n.-124A=)
Xg.154031283G>ACA415173752MECP2c.545C>T (p.Pro182Leu)
c.581C>T (p.Pro194Leu)
c.65+113C>T
c.472C>T (p.Gln158Ter)
n.2893C>T
c.533C>T (p.Pro178Leu)
c.436C>T (p.Gln146Ter)
c.266C>T (p.Pro89Leu)
c.-125C>T (n.-125C>T)
gnomAD v4
Xg.154031283G>CCA415173757MECP2c.545C>G (p.Pro182Arg)
c.581C>G (p.Pro194Arg)
c.65+113C>G
c.472C>G (p.Gln158Glu)
n.2893C>G
c.533C>G (p.Pro178Arg)
c.436C>G (p.Gln146Glu)
c.266C>G (p.Pro89Arg)
c.-125C>G (n.-125C>G)
Xg.154031283G>TCA415173756MECP2c.545C>A (p.Pro182Gln)
c.581C>A (p.Pro194Gln)
c.65+113C>A
c.472C>A (p.Gln158Lys)
n.2893C>A
c.533C>A (p.Pro178Gln)
c.436C>A (p.Gln146Lys)
c.266C>A (p.Pro89Gln)
c.-125C>A (n.-125C>A)
gnomAD v4
Xg.154031283_154031285delinsGGACA2466570937MECP2c.543_545delinsTCC (p.Ala181=)
c.579_581delinsTCC (p.Ala193=)
c.65+111_65+113delinsTCC
c.470_472delinsTCC (p.Leu157=)
n.2891_2893delinsTCC
c.531_533delinsTCC (p.Ala177=)
c.434_436delinsTCC (p.Leu145=)
c.264_266delinsTCC (p.Ala88=)
c.-127_-125delinsTCC (n.-127_-125delinsTCC)
Xg.154031284G>ACA415173760MECP2c.544C>T (p.Pro182Ser)
c.580C>T (p.Pro194Ser)
c.65+112C>T
c.471C>T (p.Leu157=)
n.2892C>T
c.532C>T (p.Pro178Ser)
c.435C>T (p.Leu145=)
c.265C>T (p.Pro89Ser)
c.-126C>T (n.-126C>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.154031284G>CCA415173766MECP2c.544C>G (p.Pro182Ala)
c.580C>G (p.Pro194Ala)
c.65+112C>G
c.471C>G (p.Leu157=)
n.2892C>G
c.532C>G (p.Pro178Ala)
c.435C>G (p.Leu145=)
c.265C>G (p.Pro89Ala)
c.-126C>G (n.-126C>G)
gnomAD v4
Xg.154031284G=CA2466570938MECP2c.544C= (p.Pro182=)
c.580C= (p.Pro194=)
c.65+112C=
c.471C= (p.Leu157=)
n.2892C=
c.532C= (p.Pro178=)
c.435C= (p.Leu145=)
c.265C= (p.Pro89=)
c.-126C= (n.-126C=)
Xg.154031284G>TCA415173771MECP2c.544C>A (p.Pro182Thr)
c.580C>A (p.Pro194Thr)
c.65+112C>A
c.471C>A (p.Leu157=)
n.2892C>A
c.532C>A (p.Pro178Thr)
c.435C>A (p.Leu145=)
c.265C>A (p.Pro89Thr)
c.-126C>A (n.-126C>A)
Xg.154031285_154031286delCA270465MECP2c.543_544del (p.Pro182ArgfsTer?)
c.579_580del (p.Pro194ArgfsTer?)
c.65+111_65+112del
c.470_471del (p.Leu157ProfsTer?)
n.2891_2892del
c.531_532del (p.Pro178ArgfsTer?)
c.434_435del (p.Leu145ProfsTer?)
c.264_265del (p.Pro89ArgfsTer?)
c.-127_-126del (n.-127_-126del)
ClinVar dbSNP
Xg.154031285A=CA2466570939MECP2c.543T= (p.Ala181=)
c.579T= (p.Ala193=)
c.65+111T=
c.470T= (p.Leu157=)
n.2891T=
c.531T= (p.Ala177=)
c.434T= (p.Leu145=)
c.264T= (p.Ala88=)
c.-127T= (n.-127T=)
Xg.154031285A>CCA415173775MECP2c.543T>G (p.Ala181=)
c.579T>G (p.Ala193=)
c.65+111T>G
c.470T>G (p.Leu157Arg)
n.2891T>G
c.531T>G (p.Ala177=)
c.434T>G (p.Leu145Arg)
c.264T>G (p.Ala88=)
c.-127T>G (n.-127T>G)
Xg.154031285A>GCA415173778MECP2c.543T>C (p.Ala181=)
c.579T>C (p.Ala193=)
c.65+111T>C
c.470T>C (p.Leu157Pro)
n.2891T>C
c.531T>C (p.Ala177=)
c.434T>C (p.Leu145Pro)
c.264T>C (p.Ala88=)
c.-127T>C (n.-127T>C)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031285A>TCA415173781MECP2c.543T>A (p.Ala181=)
c.579T>A (p.Ala193=)
c.65+111T>A
c.470T>A (p.Leu157His)
n.2891T>A
c.531T>A (p.Ala177=)
c.434T>A (p.Leu145His)
c.264T>A (p.Ala88=)
c.-127T>A (n.-127T>A)
Xg.154031286G>ACA170322MECP2c.542C>T (p.Ala181Val)
c.578C>T (p.Ala193Val)
c.65+110C>T
c.469C>T (p.Leu157Phe)
n.2890C>T
c.530C>T (p.Ala177Val)
c.433C>T (p.Leu145Phe)
c.263C>T (p.Ala88Val)
c.-128C>T (n.-128C>T)
ClinVar dbSNP gnomAD v4
Xg.154031286G>CCA415173787MECP2c.542C>G (p.Ala181Gly)
c.578C>G (p.Ala193Gly)
c.65+110C>G
c.469C>G (p.Leu157Val)
n.2890C>G
c.530C>G (p.Ala177Gly)
c.433C>G (p.Leu145Val)
c.263C>G (p.Ala88Gly)
c.-128C>G (n.-128C>G)
ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.154031286G=CA2466570940MECP2c.542C= (p.Ala181=)
c.578C= (p.Ala193=)
c.65+110C=
c.469C= (p.Leu157=)
n.2890C=
c.530C= (p.Ala177=)
c.433C= (p.Leu145=)
c.263C= (p.Ala88=)
c.-128C= (n.-128C=)
Xg.154031286G>TCA415173788MECP2c.542C>A (p.Ala181Asp)
c.578C>A (p.Ala193Asp)
c.65+110C>A
c.469C>A (p.Leu157Ile)
n.2890C>A
c.530C>A (p.Ala177Asp)
c.433C>A (p.Leu145Ile)
c.263C>A (p.Ala88Asp)
c.-128C>A (n.-128C>A)
Xg.154031287C>ACA415173789MECP2c.541G>T (p.Ala181Ser)
c.577G>T (p.Ala193Ser)
c.65+109G>T
c.469-1G>T (n.469-1G>T)
n.2889G>T
c.529G>T (p.Ala177Ser)
c.433-1G>T (n.433-1G>T)
c.262G>T (p.Ala88Ser)
c.-128-1G>T (n.-128-1G>T)
ClinVar dbSNP
Xg.154031287C>GCA415173790MECP2c.541G>C (p.Ala181Pro)
c.577G>C (p.Ala193Pro)
c.65+109G>C
c.469-1G>C (n.469-1G>C)
n.2889G>C
c.529G>C (p.Ala177Pro)
c.433-1G>C (n.433-1G>C)
c.262G>C (p.Ala88Pro)
c.-128-1G>C (n.-128-1G>C)
Xg.154031287C>TCA415173791MECP2c.541G>A (p.Ala181Thr)
c.577G>A (p.Ala193Thr)
c.65+109G>A
c.469-1G>A (n.469-1G>A)
n.2889G>A
c.529G>A (p.Ala177Thr)
c.433-1G>A (n.433-1G>A)
c.262G>A (p.Ala88Thr)
c.-128-1G>A (n.-128-1G>A)
Xg.154031287_154031296delinsCTTTGGGAGACA2466570941MECP2c.532_541delinsTCTCCCAAAG (p.Ser178=)
c.568_577delinsTCTCCCAAAG (p.Ser190=)
c.65+100_65+109delinsTCTCCCAAAG
c.469-10_469-1delinsTCTCCCAAAG (n.469-10_469-1delinsTCTCCCAAAG)
n.2880_2889delinsTCTCCCAAAG
c.520_529delinsTCTCCCAAAG (p.Ser174=)
c.433-10_433-1delinsTCTCCCAAAG (n.433-10_433-1delinsTCTCCCAAAG)
c.253_262delinsTCTCCCAAAG (p.Ser85=)
c.-128-10_-128-1delinsTCTCCCAAAG (n.-128-10_-128-1delinsTCTCCCAAAG)
Xg.154031288T>ACA415173792MECP2c.540A>T (p.Lys180Asn)
c.576A>T (p.Lys192Asn)
c.65+108A>T
c.469-2A>T (n.469-2A>T)
n.2888A>T
c.528A>T (p.Lys176Asn)
c.433-2A>T (n.433-2A>T)
c.261A>T (p.Lys87Asn)
c.-128-2A>T (n.-128-2A>T)
Xg.154031288T>CCA415173797MECP2c.540A>G (p.Lys180=)
c.576A>G (p.Lys192=)
c.65+108A>G
c.469-2A>G (n.469-2A>G)
n.2888A>G
c.528A>G (p.Lys176=)
c.433-2A>G (n.433-2A>G)
c.261A>G (p.Lys87=)
c.-128-2A>G (n.-128-2A>G)
Xg.154031288T>GCA415173793MECP2c.540A>C (p.Lys180Asn)
c.576A>C (p.Lys192Asn)
c.65+108A>C
c.469-2A>C (n.469-2A>C)
n.2888A>C
c.528A>C (p.Lys176Asn)
c.433-2A>C (n.433-2A>C)
c.261A>C (p.Lys87Asn)
c.-128-2A>C (n.-128-2A>C)
Xg.154031294_154031302delCA1138554651MECP2c.532_540del (p.Ser178_Lys180del)
c.568_576del (p.Ser190_Lys192del)
c.65+100_65+108del
c.469-10_469-2del (n.469-10_469-2del)
n.2880_2888del
c.520_528del (p.Ser174_Lys176del)
c.433-10_433-2del (n.433-10_433-2del)
c.253_261del (p.Ser85_Lys87del)
c.-128-10_-128-2del (n.-128-10_-128-2del)
dbSNP gnomAD v3 gnomAD v4
Xg.154031289T>ACA415173801MECP2c.539A>T (p.Lys180Ile)
c.575A>T (p.Lys192Ile)
c.65+107A>T
c.469-3A>T (n.469-3A>T)
n.2887A>T
c.527A>T (p.Lys176Ile)
c.433-3A>T (n.433-3A>T)
c.260A>T (p.Lys87Ile)
c.-128-3A>T (n.-128-3A>T)
Xg.154031289T>CCA415173803MECP2c.539A>G (p.Lys180Arg)
c.575A>G (p.Lys192Arg)
c.65+107A>G
c.469-3A>G (n.469-3A>G)
n.2887A>G
c.527A>G (p.Lys176Arg)
c.433-3A>G (n.433-3A>G)
c.260A>G (p.Lys87Arg)
c.-128-3A>G (n.-128-3A>G)
Xg.154031289T>GCA415173807MECP2c.539A>C (p.Lys180Thr)
c.575A>C (p.Lys192Thr)
c.65+107A>C
c.469-3A>C (n.469-3A>C)
n.2887A>C
c.527A>C (p.Lys176Thr)
c.433-3A>C (n.433-3A>C)
c.260A>C (p.Lys87Thr)
c.-128-3A>C (n.-128-3A>C)

Number of alleles fetched