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.154031154G>ACA121713MECP2c.674C>T (p.Pro225Leu)
c.710C>T (p.Pro237Leu)
c.66-218C>T
c.*46C>T (n.*46C>T)
c.662C>T (p.Pro221Leu)
c.395C>T (p.Pro132Leu)
c.5C>T (p.Pro2Leu)
ClinVar dbSNP COSMIC
Xg.154031154G>CCA270500MECP2c.674C>G (p.Pro225Arg)
c.710C>G (p.Pro237Arg)
c.66-218C>G
c.*46C>G (n.*46C>G)
c.662C>G (p.Pro221Arg)
c.395C>G (p.Pro132Arg)
c.5C>G (p.Pro2Arg)
ClinVar dbSNP
Xg.154031154G=CA2466570847MECP2c.674C= (p.Pro225=)
c.710C= (p.Pro237=)
c.66-218C=
c.*46C= (n.*46C=)
c.662C= (p.Pro221=)
c.395C= (p.Pro132=)
c.5C= (p.Pro2=)
Xg.154031154G>TCA415172689MECP2c.674C>A (p.Pro225His)
c.710C>A (p.Pro237His)
c.66-218C>A
c.*46C>A (n.*46C>A)
c.662C>A (p.Pro221His)
c.395C>A (p.Pro132His)
c.5C>A (p.Pro2His)
Xg.154031155G>ACA415172691MECP2c.673C>T (p.Pro225Ser)
c.709C>T (p.Pro237Ser)
c.66-219C>T
c.*45C>T (n.*45C>T)
c.661C>T (p.Pro221Ser)
c.394C>T (p.Pro132Ser)
c.4C>T (p.Pro2Ser)
Xg.154031155G>CCA10558570MECP2c.673C>G (p.Pro225Ala)
c.709C>G (p.Pro237Ala)
c.66-219C>G
c.*45C>G (n.*45C>G)
c.661C>G (p.Pro221Ala)
c.394C>G (p.Pro132Ala)
c.4C>G (p.Pro2Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154031155G=CA2466570848MECP2c.673C= (p.Pro225=)
c.709C= (p.Pro237=)
c.66-219C=
c.*45C= (n.*45C=)
c.661C= (p.Pro221=)
c.394C= (p.Pro132=)
c.4C= (p.Pro2=)
Xg.154031155G>TCA232991MECP2c.673C>A (p.Pro225Thr)
c.709C>A (p.Pro237Thr)
c.66-219C>A
c.*45C>A (n.*45C>A)
c.661C>A (p.Pro221Thr)
c.394C>A (p.Pro132Thr)
c.4C>A (p.Pro2Thr)
ClinVar dbSNP
Xg.154031156C>ACA415172696MECP2c.672G>T (p.Met224Ile)
c.708G>T (p.Met236Ile)
c.66-220G>T
c.*44G>T (n.*44G>T)
c.660G>T (p.Met220Ile)
c.393G>T (p.Met131Ile)
c.3G>T (p.Met1Ile)
Xg.154031156C=CA2466570849MECP2c.672G= (p.Met224=)
c.708G= (p.Met236=)
c.66-220G=
c.*44G= (n.*44G=)
c.660G= (p.Met220=)
c.393G= (p.Met131=)
c.3G= (p.Met1=)
Xg.154031156C>GCA415172699MECP2c.672G>C (p.Met224Ile)
c.708G>C (p.Met236Ile)
c.66-220G>C
c.*44G>C (n.*44G>C)
c.660G>C (p.Met220Ile)
c.393G>C (p.Met131Ile)
c.3G>C (p.Met1Ile)
dbSNP
Xg.154031156C>TCA415172700MECP2c.672G>A (p.Met224Ile)
c.708G>A (p.Met236Ile)
c.66-220G>A
c.*44G>A (n.*44G>A)
c.660G>A (p.Met220Ile)
c.393G>A (p.Met131Ile)
c.3G>A (p.Met1Ile)
Xg.154031157A>CCA415172708MECP2c.671T>G (p.Met224Arg)
c.707T>G (p.Met236Arg)
c.66-221T>G
c.*43T>G (n.*43T>G)
c.659T>G (p.Met220Arg)
c.392T>G (p.Met131Arg)
c.2T>G (p.Met1Arg)
Xg.154031157A>GCA415172704MECP2c.671T>C (p.Met224Thr)
c.707T>C (p.Met236Thr)
c.66-221T>C
c.*43T>C (n.*43T>C)
c.659T>C (p.Met220Thr)
c.392T>C (p.Met131Thr)
c.2T>C (p.Met1Thr)
gnomAD v4
Xg.154031157A>TCA415172707MECP2c.671T>A (p.Met224Lys)
c.707T>A (p.Met236Lys)
c.66-221T>A
c.*43T>A (n.*43T>A)
c.659T>A (p.Met220Lys)
c.392T>A (p.Met131Lys)
c.2T>A (p.Met1Lys)
Xg.154031157_154031163dupCA277468MECP2c.665_671dup (p.Met224IlefsTer14)
c.701_707dup (p.Met236IlefsTer14)
c.66-227_66-221dup
c.*37_*43dup (n.*37_*43dup)
c.653_659dup (p.Met220IlefsTer14)
c.386_392dup (p.Met131IlefsTer14)
c.-5_2dup (p.Met1IlefsTer14)
ClinVar dbSNP
Xg.154031158T>ACA415172712MECP2c.670A>T (p.Met224Leu)
c.706A>T (p.Met236Leu)
c.66-222A>T
c.*42A>T (n.*42A>T)
c.658A>T (p.Met220Leu)
c.391A>T (p.Met131Leu)
c.1A>T (p.Met1Leu)
Xg.154031158T>CCA415172714MECP2c.670A>G (p.Met224Val)
c.706A>G (p.Met236Val)
c.66-222A>G
c.*42A>G (n.*42A>G)
c.658A>G (p.Met220Val)
c.391A>G (p.Met131Val)
c.1A>G (p.Met1Val)
Xg.154031158T>GCA415172717MECP2c.670A>C (p.Met224Leu)
c.706A>C (p.Met236Leu)
c.66-222A>C
c.*42A>C (n.*42A>C)
c.658A>C (p.Met220Leu)
c.391A>C (p.Met131Leu)
c.1A>C (p.Met1Leu)
Xg.154031159C>ACA415172719MECP2c.669G>T (p.Lys223Asn)
c.705G>T (p.Lys235Asn)
c.66-223G>T
c.*41G>T (n.*41G>T)
c.657G>T (p.Lys219Asn)
c.390G>T (p.Lys130Asn)
c.-1G>T (n.-1G>T)
Xg.154031159C>GCA415172721MECP2c.669G>C (p.Lys223Asn)
c.705G>C (p.Lys235Asn)
c.66-223G>C
c.*41G>C (n.*41G>C)
c.657G>C (p.Lys219Asn)
c.390G>C (p.Lys130Asn)
c.-1G>C (n.-1G>C)
Xg.154031159C>TCA519705201MECP2c.669G>A (p.Lys223=)
c.705G>A (p.Lys235=)
c.66-223G>A
c.*41G>A (n.*41G>A)
c.657G>A (p.Lys219=)
c.390G>A (p.Lys130=)
c.-1G>A (n.-1G>A)
gnomAD v4
Xg.154031160T>ACA415172724MECP2c.668A>T (p.Lys223Met)
c.704A>T (p.Lys235Met)
c.66-224A>T
c.*40A>T (n.*40A>T)
c.656A>T (p.Lys219Met)
c.389A>T (p.Lys130Met)
c.-2A>T (n.-2A>T)

Number of alleles fetched