Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154030255_154037279delinsCACAAAGTG | CA274580 | MECP2 | c.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 |
X | g.154030367_154031450del | CA274586 | MECP2 | c.378_1461del (p.Pro127PhefsTer24) c.414_1497del (p.Pro139PhefsTer24) c.378_1457del c.378_*833del c.99_1182del (p.Pro34PhefsTer24) c.-183_792del | ClinVar |
X | g.154030546_154032241del | CA2695202122 | MECP2 | c.343_1282del c.379_1318del c.343_*654del c.64_1003del c.-218_613del | |
X | g.154030587_154034485del | CA1139667874 | MECP2 | c.27-1928_1241del c.63-1928_1277del c.27-1928_*613del c.-253-1928_962del c.-534-1928_572del | ClinVar |
X | g.154030593_154038357del | CA2499226465 | MECP2 | c.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 |
X | g.154030617_154032283del | CA2573159384 | MECP2 | c.301_1211del c.337_1247del c.337_*583del c.301_*583del c.22_932del c.-260_542del | ClinVar |
X | g.154030623_154032653del | CA274584 | MECP2 | c.27-94_1207del c.63-94_1243del c.63-94_*579del c.27-94_*579del c.-253-94_928del c.-534-94_538del | ClinVar |
X | g.154030638_154031249del | CA2573159363 | MECP2 | c.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 |
X | g.154030638_154038772del | CA274583 | MECP2 | c.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 |
X | g.154030638_154031340delinsTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCC | CA2466570378 | MECP2 | c.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 | |
X | g.154030638_154038583delinsAC | CA274582 | MECP2 | c.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 |
X | g.154030640_154031341del | CA274591 | MECP2 | c.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 |
X | g.154030639_154031446del | CA274587 | MECP2 | c.382_1189del (p.Gln128ArgfsTer12) c.418_1225del (p.Gln140ArgfsTer12) c.418_*561del c.382_*561del c.103_910del (p.Gln35ArgfsTer12) c.-179_520del | ClinVar |
X | g.154030646_154036487del | CA274579 | MECP2 | c.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 |
X | g.154030646_154032241del | CA915952020 | MECP2 | c.343_1182del c.379_1218del c.379_*554del c.343_*554del c.64_903del c.-218_513del | |
X | g.154030660_154031387del | CA2573334949 | MECP2 | c.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 | |
X | g.154030663_154037047del | CA916084238 | MECP2 | c.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 |
X | g.154030665_154031373delinsACGCA | CA2580101841 | MECP2 | c.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 |
X | g.154030672_154039641del | CA1139667883 | MECP2 | c.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 |
X | g.154030672_154031421del | CA274588 | MECP2 | c.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 |
X | g.154030690_154038335del | CA915952024 | MECP2 | c.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 |
X | g.154030700_154032236del | CA915952025 | MECP2 | c.348_1128del c.384_1164del c.384_*500del c.348_*500del c.69_849del c.-213_459del | |
X | g.154030705_154031212delinsACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACC | CA2466570569 | MECP2 | c.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 | |
X | g.154030712_154031218del | CA274597 | MECP2 | c.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 |
X | g.154030753_154031305delinsCG | CA198826 | MECP2 | c.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 | |
X | g.154030777_154032630del | CA915952026 | MECP2 | c.27-73_1051del c.63-73_1087del c.63-73_*423del c.27-73_*423del c.-253-73_772del c.-534-73_382del | ClinVar |
X | g.154030926_154038331delinsTGACATCAGTCCGGGCAC | CA274581 | MECP2 | c.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 |
X | g.154031170_154031197delinsGCTTCCCAGGACTTTTCTCCAGGACCCT | CA2466570855 | MECP2 | c.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) | |
X | g.154031171_154031197del | CA337264101 | MECP2 | c.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 |
X | g.154031175_154031204del | CA2695237698 | MECP2 | c.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) | |
X | g.154031182_154031194del | CA232990 | MECP2 | c.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 |
X | g.154031193_154031194delinsAC | CA2466570871 | MECP2 | c.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) | |
X | g.154031194C>A | CA415172923 | MECP2 | c.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 |
X | g.154031194C= | CA2466570873 | MECP2 | c.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=) | |
X | g.154031194C>G | CA415172924 | MECP2 | c.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) | |
X | g.154031194C>T | CA415172925 | MECP2 | c.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) | |
X | g.154031196del | CA916084017 | MECP2 | c.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 |
X | g.154031194_154031198delinsCCCTT | CA2466570872 | MECP2 | c.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) | |
X | g.154031200_154031254del | CA2697544872 | MECP2 | c.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 |
X | g.154031195C>A | CA415172926 | MECP2 | c.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 |
X | g.154031195C= | CA2466570874 | MECP2 | c.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=) | |
X | g.154031195C>G | CA170349 | MECP2 | c.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 |
X | g.154031195C>T | CA519705533 | MECP2 | c.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) | |
X | g.154031195_154031198del | CA519705537 | MECP2 | c.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 |
X | g.154031196C>A | CA415172928 | MECP2 | c.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 |
X | g.154031196C>G | CA415172930 | MECP2 | c.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) | |
X | g.154031196C>T | CA415172932 | MECP2 | c.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) | |
X | g.154031197T>A | CA415172937 | MECP2 | c.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) | |
X | g.154031197T>C | CA415172935 | MECP2 | c.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 |
X | g.154031197T>G | CA519705546 | MECP2 | c.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) | |
X | g.154031197T= | CA2466570875 | MECP2 | c.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=) | |
X | g.154031198T>A | CA415172941 | MECP2 | c.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) | |
X | g.154031198T>C | CA519705548 | MECP2 | c.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 |
X | g.154031198T>G | CA415172943 | MECP2 | c.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) | |
X | g.154031199T>A | CA270490 | MECP2 | c.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 |
X | g.154031199T>C | CA415172947 | MECP2 | c.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) | |
X | g.154031199T>G | CA415172949 | MECP2 | c.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) | |
X | g.154031199T= | CA2466570876 | MECP2 | c.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=) | |
X | g.154031200T>A | CA415172951 | MECP2 | c.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) | |
X | g.154031200T>C | CA10558576 | MECP2 | c.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 |
X | g.154031200T>G | CA415172953 | MECP2 | c.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) | |
X | g.154031200T= | CA2466570877 | MECP2 | c.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=) | |
X | g.154031201C>A | CA415172955 | MECP2 | c.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) | |
X | g.154031201C= | CA2466570878 | MECP2 | c.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=) | |
X | g.154031201C>G | CA415172956 | MECP2 | c.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) | |
X | g.154031201C>T | CA199465 | MECP2 | c.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 |
X | g.154031202A= | CA2466570879 | MECP2 | c.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=) | |
X | g.154031202A>C | CA415172959 | MECP2 | c.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) | |
X | g.154031202A>G | CA415172960 | MECP2 | c.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 |
X | g.154031202A>T | CA415172962 | MECP2 | c.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) | |
X | g.154031203C>A | CA415172963 | MECP2 | c.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 |
X | g.154031203C= | CA2466570880 | MECP2 | c.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=) | |
X | g.154031203C>G | CA415172966 | MECP2 | c.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) | |
X | g.154031203C>T | CA415172964 | MECP2 | c.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) | |
X | g.154031204C>A | CA415172968 | MECP2 | c.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) | |
X | g.154031204C>G | CA415172970 | MECP2 | c.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) | |
X | g.154031204C>T | CA415172971 | MECP2 | c.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) | |
X | g.154031205T>A | CA415172973 | MECP2 | c.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) | |
X | g.154031205T>C | CA415172974 | MECP2 | c.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 |
X | g.154031205T>G | CA415172975 | MECP2 | c.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 |
X | g.154031205T= | CA2466570881 | MECP2 | c.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=) | |
X | g.154031206G>A | CA270487 | MECP2 | c.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 |
X | g.154031206G>C | CA415172977 | MECP2 | c.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) | |
X | g.154031206G= | CA2466570882 | MECP2 | c.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=) | |
X | g.154031206G>T | CA415172978 | MECP2 | c.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 |
X | g.154031207C>A | CA415172982 | MECP2 | c.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) | |
X | g.154031207C= | CA2466570883 | MECP2 | c.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=) | |
X | g.154031207C>G | CA415172984 | MECP2 | c.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) | |
X | g.154031207C>T | CA415172981 | MECP2 | c.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) | |
X | g.154031208A= | CA2466570884 | MECP2 | c.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=) | |
X | g.154031208A>C | CA415172986 | MECP2 | c.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) | |
X | g.154031208A>G | CA10606762 | MECP2 | c.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 |
X | g.154031208A>T | CA415172988 | MECP2 | c.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) | |
X | g.154031208dup | CA270486 | MECP2 | c.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 |
X | g.154031209C>A | CA415172990 | MECP2 | c.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) | |
X | g.154031209C= | CA2466570885 | MECP2 | c.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=) | |
X | g.154031209C>G | CA415172991 | MECP2 | c.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) | |
X | g.154031209C>T | CA10558577 | MECP2 | c.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 |
X | g.154031210A>C | CA415172994 | MECP2 | c.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) | |
X | g.154031210A>G | CA415172996 | MECP2 | c.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 |
X | g.154031210A>T | CA415172997 | MECP2 | c.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) | |
X | g.154031210_154031211delinsAC | CA2466570886 | MECP2 | c.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) | |
X | g.154031211C>A | CA415173001 | MECP2 | c.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) | |
X | g.154031211C= | CA2466570887 | MECP2 | c.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=) | |
X | g.154031211C>G | CA170346 | MECP2 | c.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 |
X | g.154031211C>T | CA232987 | MECP2 | c.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 |
X | g.154031213del | CA270485 | MECP2 | c.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 |
X | g.154031212C>A | CA415173005 | MECP2 | c.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 |
X | g.154031212C= | CA2466570888 | MECP2 | c.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=) | |
X | g.154031212C>G | CA415173007 | MECP2 | c.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) | |
X | g.154031212C>T | CA415173011 | MECP2 | c.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 |
X | g.154031212_154031214delinsCCT | CA2466570889 | MECP2 | c.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) | |
X | g.154031213C>A | CA415173015 | MECP2 | c.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) | |
X | g.154031213C>G | CA415173017 | MECP2 | c.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) | |
X | g.154031213C>T | CA415173019 | MECP2 | c.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) | |
X | g.154031215_154031216del | CA915952030 | MECP2 | c.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 |
X | g.154031214T>A | CA415173022 | MECP2 | c.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 |
X | g.154031214T>C | CA10558578 | MECP2 | c.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 |
X | g.154031214T>G | CA415173025 | MECP2 | c.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) | |
X | g.154031214T= | CA2466570890 | MECP2 | c.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=) | |
X | g.154031215C>A | CA270482 | MECP2 | c.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 |
X | g.154031215C= | CA2466570891 | MECP2 | c.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=) | |
X | g.154031215C>G | CA10558579 | MECP2 | c.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 |
X | g.154031215C>T | CA415173032 | MECP2 | c.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) | |
X | g.154031216T>A | CA415173038 | MECP2 | c.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) | |
X | g.154031216T>C | CA415173036 | MECP2 | c.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 |
X | g.154031216T>G | CA415173041 | MECP2 | c.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 |
X | g.154031216T= | CA2466570893 | MECP2 | c.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=) | |
X | g.154031216dup | CA658799899 | MECP2 | c.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 |
X | g.154031216_154031217delinsCT | CA270481 | MECP2 | c.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 |
X | g.154031216_154031217delinsTG | CA2466570892 | MECP2 | c.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) | |
X | g.154031217G>A | CA415173045 | MECP2 | c.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 |
X | g.154031217G>C | CA202772 | MECP2 | c.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 |
X | g.154031217G= | CA2466570894 | MECP2 | c.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=) | |
X | g.154031217G>T | CA415173049 | MECP2 | c.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 |
X | g.154031217dup | CA2695237701 | MECP2 | c.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) | |
X | g.154031218A= | CA2466570895 | MECP2 | c.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=) | |
X | g.154031218A>C | CA415173052 | MECP2 | c.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) | |
X | g.154031218A>G | CA415173053 | MECP2 | c.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) | |
X | g.154031218A>T | CA415173056 | MECP2 | c.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) | |
X | g.154031219C>A | CA415173059 | MECP2 | c.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) | |
X | g.154031219C= | CA2466570896 | MECP2 | c.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=) | |
X | g.154031219C>G | CA415173062 | MECP2 | c.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) | |
X | g.154031219C>T | CA170343 | MECP2 | c.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 |
X | g.154031224_154031241dup | CA10558580 | MECP2 | c.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 |
X | g.154031219_154031220insT | CA270480 | MECP2 | c.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 |
X | g.154031220G>A | CA148319 | MECP2 | c.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 |
X | g.154031220G>C | CA415173067 | MECP2 | c.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) | |
X | g.154031220G= | CA2466570897 | MECP2 | c.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=) | |
X | g.154031220G>T | CA415173069 | MECP2 | c.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 |
X | g.154031221T>A | CA415173075 | MECP2 | c.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) | |
X | g.154031221T>C | CA415173072 | MECP2 | c.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 |
X | g.154031221T>G | CA415173073 | MECP2 | c.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) | |
X | g.154031222G>A | CA10558581 | MECP2 | c.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 |
X | g.154031222G>C | CA415173079 | MECP2 | c.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 |
X | g.154031222G= | CA2466570898 | MECP2 | c.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=) | |
X | g.154031222G>T | CA415173081 | MECP2 | c.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 |
X | g.154031223del | CA2573159387 | MECP2 | c.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 |
X | g.154031223G>A | CA294713 | MECP2 | c.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 |
X | g.154031223G>C | CA415173087 | MECP2 | c.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 |
X | g.154031223G= | CA2466570899 | MECP2 | c.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=) | |
X | g.154031223G>T | CA415173089 | MECP2 | c.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) | |
X | g.154031224C>A | CA415173092 | MECP2 | c.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) | |
X | g.154031224C>G | CA415173093 | MECP2 | c.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) | |
X | g.154031224C>T | CA415173094 | MECP2 | c.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) | |
X | g.154031225C>A | CA415173110 | MECP2 | c.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) | |
X | g.154031225C= | CA2466570900 | MECP2 | c.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=) | |
X | g.154031225C>G | CA415173108 | MECP2 | c.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) | |
X | g.154031225C>T | CA199309 | MECP2 | c.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 |
X | g.154031226G>A | CA211932 | MECP2 | c.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 |
X | g.154031226G>C | CA415173120 | MECP2 | c.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) | |
X | g.154031226G= | CA2466570901 | MECP2 | c.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=) | |
X | g.154031226G>T | CA415173123 | MECP2 | c.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) | |
X | g.154031227C>A | CA415173127 | MECP2 | c.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) | |
X | g.154031227C>G | CA415173132 | MECP2 | c.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) | |
X | g.154031227C>T | CA415173133 | MECP2 | c.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 |
X | g.154031228dup | CA270479 | MECP2 | c.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 |
X | g.154031228C>A | CA415173135 | MECP2 | c.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) | |
X | g.154031228C>G | CA415173137 | MECP2 | c.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) | |
X | g.154031228C>T | CA415173140 | MECP2 | c.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) | |
X | g.154031229T>A | CA415173145 | MECP2 | c.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) | |
X | g.154031229T>C | CA415173144 | MECP2 | c.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) | |
X | g.154031229T>G | CA415173143 | MECP2 | c.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 |
X | g.154031230T>A | CA270476 | MECP2 | c.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 |
X | g.154031230T>C | CA415173148 | MECP2 | c.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 |
X | g.154031230T>G | CA415173149 | MECP2 | c.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 |
X | g.154031230T= | CA2466570902 | MECP2 | c.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=) | |
X | g.154031231G>A | CA415173150 | MECP2 | c.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 |
X | g.154031231G>C | CA10558582 | MECP2 | c.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 |
X | g.154031231G= | CA2466570903 | MECP2 | c.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=) | |
X | g.154031231G>T | CA415173152 | MECP2 | c.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) | |
X | g.154031232G>A | CA415173153 | MECP2 | c.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 |
X | g.154031232G>C | CA10558583 | MECP2 | c.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 |
X | g.154031232G= | CA2466570904 | MECP2 | c.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=) | |
X | g.154031232G>T | CA170340 | MECP2 | c.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 |
X | g.154031233G>A | CA415173156 | MECP2 | c.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 |
X | g.154031233G>C | CA415173160 | MECP2 | c.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 |
X | g.154031233G= | CA2466570905 | MECP2 | c.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=) | |
X | g.154031233G>T | CA10558584 | MECP2 | c.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 |
X | g.154031234T>A | CA415173166 | MECP2 | c.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) | |
X | g.154031234T>C | CA415173170 | MECP2 | c.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) | |
X | g.154031234T>G | CA415173165 | MECP2 | c.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) | |
X | g.154031235C>A | CA415173178 | MECP2 | c.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) | |
X | g.154031235C>G | CA415173174 | MECP2 | c.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 |
X | g.154031235C>T | CA415173176 | MECP2 | c.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) | |
X | g.154031236T>A | CA270473 | MECP2 | c.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 |
X | g.154031236T>C | CA415173183 | MECP2 | c.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 |
X | g.154031236T>G | CA10558585 | MECP2 | c.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 |
X | g.154031236T= | CA2466570906 | MECP2 | c.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=) | |
X | g.154031237C>A | CA415173188 | MECP2 | c.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) | |
X | g.154031237C= | CA2466570907 | MECP2 | c.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=) | |
X | g.154031237C>G | CA10558586 | MECP2 | c.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 |
X | g.154031237C>T | CA170337 | MECP2 | c.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 |
X | g.154031238G>A | CA199312 | MECP2 | c.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 |
X | g.154031238G>C | CA415173193 | MECP2 | c.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 |
X | g.154031238G= | CA2466570908 | MECP2 | c.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=) | |
X | g.154031238G>T | CA415173195 | MECP2 | c.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) | |
X | g.154031239T>A | CA415173202 | MECP2 | c.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) | |
X | g.154031239T>C | CA415173200 | MECP2 | c.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 |
X | g.154031239T>G | CA415173197 | MECP2 | c.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) | |
X | g.154031239T= | CA2466570909 | MECP2 | c.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=) | |
X | g.154031239_154031242del | CA2695237590 | MECP2 | c.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) | |
X | g.154031240G>A | CA415173206 | MECP2 | c.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 |
X | g.154031240G>C | CA415173208 | MECP2 | c.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) | |
X | g.154031240G= | CA2466570910 | MECP2 | c.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=) | |
X | g.154031240G>T | CA415173210 | MECP2 | c.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 |
X | g.154031241G>A | CA415173214 | MECP2 | c.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 |
X | g.154031241G>C | CA170334 | MECP2 | c.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 |
X | g.154031241G= | CA2466570911 | MECP2 | c.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=) | |
X | g.154031241G>T | CA10558587 | MECP2 | c.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 |
X | g.154031242T>A | CA415173227 | MECP2 | c.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) | |
X | g.154031242T>C | CA415173243 | MECP2 | c.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 |
X | g.154031242T>G | CA415173247 | MECP2 | c.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) | |
X | g.154031242T= | CA2466570912 | MECP2 | c.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=) | |
X | g.154031242dup | CA2695237592 | MECP2 | c.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) | |
X | g.154031243G>A | CA170331 | MECP2 | c.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 |
X | g.154031243G>C | CA415173252 | MECP2 | c.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) | |
X | g.154031243G= | CA2466570913 | MECP2 | c.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=) | |
X | g.154031243G>T | CA415173255 | MECP2 | c.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 |
X | g.154031244C>A | CA415173262 | MECP2 | c.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) | |
X | g.154031244C>G | CA415173260 | MECP2 | c.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) | |
X | g.154031244C>T | CA415173258 | MECP2 | c.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) | |
X | g.154031245C>A | CA415173270 | MECP2 | c.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) | |
X | g.154031245C= | CA2466570914 | MECP2 | c.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=) | |
X | g.154031245C>G | CA415173279 | MECP2 | c.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) | |
X | g.154031245C>T | CA198827 | MECP2 | c.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 |
X | g.154031246G>A | CA148316 | MECP2 | c.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 |
X | g.154031246G>C | CA415173284 | MECP2 | c.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 |
X | g.154031246G= | CA2466570915 | MECP2 | c.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=) | |
X | g.154031246G>T | CA415173287 | MECP2 | c.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) | |
X | g.154031246dup | CA2573159388 | MECP2 | c.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 |
X | g.154031247C>A | CA415173290 | MECP2 | c.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) | |
X | g.154031247C>G | CA415173292 | MECP2 | c.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) | |
X | g.154031247C>T | CA415173294 | MECP2 | c.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) | |
X | g.154031248T>A | CA415173300 | MECP2 | c.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) | |
X | g.154031248T>C | CA415173301 | MECP2 | c.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) | |
X | g.154031248T>G | CA415173303 | MECP2 | c.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) | |
X | g.154031249C>A | CA415173315 | MECP2 | c.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) | |
X | g.154031249C>G | CA415173307 | MECP2 | c.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) | |
X | g.154031249C>T | CA415173313 | MECP2 | c.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 |
X | g.154031250C>A | CA415173317 | MECP2 | c.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) | |
X | g.154031250C>G | CA415173320 | MECP2 | c.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) | |
X | g.154031250C>T | CA415173323 | MECP2 | c.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 |
X | g.154031251C>A | CA415173326 | MECP2 | c.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 |
X | g.154031251C= | CA2466570916 | MECP2 | c.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=) | |
X | g.154031251C>G | CA415173328 | MECP2 | c.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) | |
X | g.154031251C>T | CA415173331 | MECP2 | c.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) | |
X | g.154031252T>A | CA415173332 | MECP2 | c.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) | |
X | g.154031252T>C | CA415173333 | MECP2 | c.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) | |
X | g.154031252T>G | CA415173335 | MECP2 | c.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) | |
X | g.154031253T>A | CA415173346 | MECP2 | c.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) | |
X | g.154031253T>C | CA415173349 | MECP2 | c.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 |
X | g.154031253T>G | CA415173350 | MECP2 | c.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) | |
X | g.154031254T>A | CA260436 | MECP2 | c.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 |
X | g.154031254T>C | CA415173368 | MECP2 | c.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) | |
X | g.154031254T>G | CA415173353 | MECP2 | c.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) | |
X | g.154031254T= | CA2466570917 | MECP2 | c.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=) | |
X | g.154031254_154031255delinsTG | CA2466570918 | MECP2 | c.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) | |
X | g.154031255G>A | CA170328 | MECP2 | c.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 |
X | g.154031255G>C | CA10558588 | MECP2 | c.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 |
X | g.154031255G= | CA2466570919 | MECP2 | c.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=) | |
X | g.154031255G>T | CA415173369 | MECP2 | c.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) | |
X | g.154031258del | CA273835 | MECP2 | c.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 |
X | g.154031256G>A | CA415173371 | MECP2 | c.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) | |
X | g.154031256G>C | CA415173375 | MECP2 | c.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 |
X | g.154031256G>T | CA415173374 | MECP2 | c.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) | |
X | g.154031257G>A | CA415173376 | MECP2 | c.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 |
X | g.154031257G>C | CA415173378 | MECP2 | c.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) | |
X | g.154031257G>T | CA415173379 | MECP2 | c.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) | |
X | g.154031257_154031258insA | CA2695237596 | MECP2 | c.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) | |
X | g.154031258G>A | CA10558589 | MECP2 | c.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 |
X | g.154031258G>C | CA415173381 | MECP2 | c.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) | |
X | g.154031258G= | CA2466570920 | MECP2 | c.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=) | |
X | g.154031258G>T | CA415173383 | MECP2 | c.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 |
X | g.154031259C>A | CA415173387 | MECP2 | c.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) | |
X | g.154031259C= | CA2466570921 | MECP2 | c.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=) | |
X | g.154031259C>G | CA415173396 | MECP2 | c.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) | |
X | g.154031259C>T | CA415173401 | MECP2 | c.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 |
X | g.154031260G>A | CA294710 | MECP2 | c.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 |
X | g.154031260G>C | CA415173408 | MECP2 | c.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) | |
X | g.154031260G= | CA2466570922 | MECP2 | c.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=) | |
X | g.154031260G>T | CA415173411 | MECP2 | c.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) | |
X | g.154031261T>A | CA415173416 | MECP2 | c.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) | |
X | g.154031261T>C | CA415173418 | MECP2 | c.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 |
X | g.154031261T>G | CA415173419 | MECP2 | c.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) | |
X | g.154031261T= | CA2466570924 | MECP2 | c.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=) | |
X | g.154031261dup | CA270472 | MECP2 | c.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 |
X | g.154031261_154031262delinsTC | CA2466570923 | MECP2 | c.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) | |
X | g.154031262C>A | CA415173420 | MECP2 | c.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 |
X | g.154031262C= | CA2466570925 | MECP2 | c.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=) | |
X | g.154031262C>G | CA415173422 | MECP2 | c.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) | |
X | g.154031262C>T | CA415173424 | MECP2 | c.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) | |
X | g.154031265dup | CA270471 | MECP2 | c.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 |
X | g.154031265del | CA270470 | MECP2 | c.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 |
X | g.154031263C>A | CA415173449 | MECP2 | c.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) | |
X | g.154031263C>G | CA415173452 | MECP2 | c.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) | |
X | g.154031263C>T | CA415173433 | MECP2 | c.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) | |
X | g.154031264C>A | CA415173453 | MECP2 | c.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) | |
X | g.154031264C>G | CA415173455 | MECP2 | c.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) | |
X | g.154031264C>T | CA415173462 | MECP2 | c.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 |
X | g.154031265C>A | CA415173465 | MECP2 | c.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) | |
X | g.154031265C= | CA2466570926 | MECP2 | c.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=) | |
X | g.154031265C>G | CA415173468 | MECP2 | c.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) | |
X | g.154031265C>T | CA415173472 | MECP2 | c.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 |
X | g.154031266G>A | CA10558590 | MECP2 | c.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 |
X | g.154031266G>C | CA415173534 | MECP2 | c.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) | |
X | g.154031266G= | CA2466570927 | MECP2 | c.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=) | |
X | g.154031266G>T | CA519705669 | MECP2 | c.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) | |
X | g.154031267G>A | CA415173580 | MECP2 | c.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) | |
X | g.154031267G>C | CA415173584 | MECP2 | c.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) | |
X | g.154031267G= | CA2466570928 | MECP2 | c.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=) | |
X | g.154031267G>T | CA16616642 | MECP2 | c.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 |
X | g.154031268C>A | CA415173604 | MECP2 | c.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) | |
X | g.154031268C>G | CA415173596 | MECP2 | c.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) | |
X | g.154031268C>T | CA415173600 | MECP2 | c.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) | |
X | g.154031269C>A | CA415173622 | MECP2 | c.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) | |
X | g.154031269C>G | CA415173631 | MECP2 | c.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) | |
X | g.154031269C>T | CA415173637 | MECP2 | c.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) | |
X | g.154031270T>A | CA415173639 | MECP2 | c.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) | |
X | g.154031270T>C | CA415173640 | MECP2 | c.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) | |
X | g.154031270T>G | CA415173641 | MECP2 | c.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) | |
X | g.154031271C>A | CA415173642 | MECP2 | c.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) | |
X | g.154031271C>G | CA415173644 | MECP2 | c.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) | |
X | g.154031271C>T | CA415173645 | MECP2 | c.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) | |
X | g.154031272T>A | CA294707 | MECP2 | c.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 |
X | g.154031272T>C | CA415173655 | MECP2 | c.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) | |
X | g.154031272T>G | CA519705674 | MECP2 | c.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) | |
X | g.154031272T= | CA2466570929 | MECP2 | c.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=) | |
X | g.154031273G>A | CA10558591 | MECP2 | c.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 |
X | g.154031273G>C | CA415173658 | MECP2 | c.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) | |
X | g.154031273G= | CA2466570931 | MECP2 | c.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=) | |
X | g.154031273G>T | CA10558592 | MECP2 | c.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 |
X | g.154031273_154031274delinsGC | CA2466570930 | MECP2 | c.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) | |
X | g.154031274C>A | CA415173660 | MECP2 | c.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 |
X | g.154031274C>G | CA415173661 | MECP2 | c.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) | |
X | g.154031274C>T | CA415173662 | MECP2 | c.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) | |
X | g.154031275del | CA270466 | MECP2 | c.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 |
X | g.154031275C>A | CA415173667 | MECP2 | c.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 |
X | g.154031275C= | CA2466570932 | MECP2 | c.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=) | |
X | g.154031275C>G | CA415173666 | MECP2 | c.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) | |
X | g.154031275C>T | CA294704 | MECP2 | c.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 |
X | g.154031276A>C | CA415173670 | MECP2 | c.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) | |
X | g.154031276A>G | CA415173672 | MECP2 | c.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 |
X | g.154031276A>T | CA415173677 | MECP2 | c.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) | |
X | g.154031277G>A | CA415173678 | MECP2 | c.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) | |
X | g.154031277G>C | CA10558593 | MECP2 | c.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 |
X | g.154031277G= | CA2466570933 | MECP2 | c.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=) | |
X | g.154031277G>T | CA415173687 | MECP2 | c.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) | |
X | g.154031278T>A | CA415173706 | MECP2 | c.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) | |
X | g.154031278T>C | CA415173700 | MECP2 | c.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 |
X | g.154031278T>G | CA415173702 | MECP2 | c.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 |
X | g.154031278T= | CA2466570934 | MECP2 | c.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=) | |
X | g.154031279T>A | CA415173708 | MECP2 | c.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) | |
X | g.154031279T>C | CA415173711 | MECP2 | c.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) | |
X | g.154031279T>G | CA415173719 | MECP2 | c.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) | |
X | g.154031280C>A | CA415173721 | MECP2 | c.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) | |
X | g.154031280C>G | CA415173725 | MECP2 | c.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) | |
X | g.154031280C>T | CA415173727 | MECP2 | c.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) | |
X | g.154031281C>A | CA415173730 | MECP2 | c.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) | |
X | g.154031281C= | CA2466570935 | MECP2 | c.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=) | |
X | g.154031281C>G | CA170325 | MECP2 | c.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 |
X | g.154031281C>T | CA415173745 | MECP2 | c.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) | |
X | g.154031282T>A | CA415173748 | MECP2 | c.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) | |
X | g.154031282T>C | CA415173749 | MECP2 | c.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 |
X | g.154031282T>G | CA415173750 | MECP2 | c.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) | |
X | g.154031282T= | CA2466570936 | MECP2 | c.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=) | |
X | g.154031283G>A | CA415173752 | MECP2 | c.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 |
X | g.154031283G>C | CA415173757 | MECP2 | c.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) | |
X | g.154031283G>T | CA415173756 | MECP2 | c.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 |
X | g.154031283_154031285delinsGGA | CA2466570937 | MECP2 | c.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) | |
X | g.154031284G>A | CA415173760 | MECP2 | c.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 |
X | g.154031284G>C | CA415173766 | MECP2 | c.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 |
X | g.154031284G= | CA2466570938 | MECP2 | c.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=) | |
X | g.154031284G>T | CA415173771 | MECP2 | c.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) | |
X | g.154031285_154031286del | CA270465 | MECP2 | c.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 |
X | g.154031285A= | CA2466570939 | MECP2 | c.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=) | |
X | g.154031285A>C | CA415173775 | MECP2 | c.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) | |
X | g.154031285A>G | CA415173778 | MECP2 | c.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 |
X | g.154031285A>T | CA415173781 | MECP2 | c.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) | |
X | g.154031286G>A | CA170322 | MECP2 | c.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 |
X | g.154031286G>C | CA415173787 | MECP2 | c.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 |
X | g.154031286G= | CA2466570940 | MECP2 | c.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=) | |
X | g.154031286G>T | CA415173788 | MECP2 | c.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) | |
X | g.154031287C>A | CA415173789 | MECP2 | c.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 |
X | g.154031287C>G | CA415173790 | MECP2 | c.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) | |
X | g.154031287C>T | CA415173791 | MECP2 | c.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) | |
X | g.154031287_154031296delinsCTTTGGGAGA | CA2466570941 | MECP2 | c.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) | |
X | g.154031288T>A | CA415173792 | MECP2 | c.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) | |
X | g.154031288T>C | CA415173797 | MECP2 | c.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) | |
X | g.154031288T>G | CA415173793 | MECP2 | c.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) | |
X | g.154031294_154031302del | CA1138554651 | MECP2 | c.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 |
X | g.154031289T>A | CA415173801 | MECP2 | c.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) | |
X | g.154031289T>C | CA415173803 | MECP2 | c.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) | |
X | g.154031289T>G | CA415173807 | MECP2 | c.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) | |
X | g.154031290T>A | CA270462 | MECP2 | c.538A>T (p.Lys180Ter) c.574A>T (p.Lys192Ter) c.65+106A>T c.469-4A>T (n.469-4A>T) n.2886A>T c.526A>T (p.Lys176Ter) c.433-4A>T (n.433-4A>T) c.259A>T (p.Lys87Ter) c.-128-4A>T (n.-128-4A>T) | ClinVar dbSNP |
X | g.154031290T>C | CA415173808 | MECP2 | c.538A>G (p.Lys180Glu) c.574A>G (p.Lys192Glu) c.65+106A>G c.469-4A>G (n.469-4A>G) n.2886A>G c.526A>G (p.Lys176Glu) c.433-4A>G (n.433-4A>G) c.259A>G (p.Lys87Glu) c.-128-4A>G (n.-128-4A>G) | gnomAD v4 |
X | g.154031290T>G | CA415173809 | MECP2 | c.538A>C (p.Lys180Gln) c.574A>C (p.Lys192Gln) c.65+106A>C c.469-4A>C (n.469-4A>C) n.2886A>C c.526A>C (p.Lys176Gln) c.433-4A>C (n.433-4A>C) c.259A>C (p.Lys87Gln) c.-128-4A>C (n.-128-4A>C) | |
X | g.154031290T= | CA2466570942 | MECP2 | c.538A= (p.Lys180=) c.574A= (p.Lys192=) c.65+106A= c.469-4A= (n.469-4A=) n.2886A= c.526A= (p.Lys176=) c.433-4A= (n.433-4A=) c.259A= (p.Lys87=) c.-128-4A= (n.-128-4A=) | |
X | g.154031290_154031291insA | CA2573159389 | MECP2 | c.537_538insT (p.Lys180Ter) c.573_574insT (p.Lys192Ter) c.65+105_65+106insT c.469-5_469-4insT (n.469-5_469-4insT) n.2885_2886insT c.525_526insT (p.Lys176Ter) c.433-5_433-4insT (n.433-5_433-4insT) c.258_259insT (p.Lys87Ter) c.-128-5_-128-4insT (n.-128-5_-128-4insT) | ClinVar dbSNP |
X | g.154031291G>A | CA519705695 | MECP2 | c.537C>T (p.Pro179=) c.573C>T (p.Pro191=) c.65+105C>T c.469-5C>T (n.469-5C>T) n.2885C>T c.525C>T (p.Pro175=) c.433-5C>T (n.433-5C>T) c.258C>T (p.Pro86=) c.-128-5C>T (n.-128-5C>T) | gnomAD v4 |
X | g.154031291G>C | CA10558594 | MECP2 | c.537C>G (p.Pro179=) c.573C>G (p.Pro191=) c.65+105C>G c.469-5C>G (n.469-5C>G) n.2885C>G c.525C>G (p.Pro175=) c.433-5C>G (n.433-5C>G) c.258C>G (p.Pro86=) c.-128-5C>G (n.-128-5C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154031291G= | CA2466570943 | MECP2 | c.537C= (p.Pro179=) c.573C= (p.Pro191=) c.65+105C= c.469-5C= (n.469-5C=) n.2885C= c.525C= (p.Pro175=) c.433-5C= (n.433-5C=) c.258C= (p.Pro86=) c.-128-5C= (n.-128-5C=) | |
X | g.154031291G>T | CA519705696 | MECP2 | c.537C>A (p.Pro179=) c.573C>A (p.Pro191=) c.65+105C>A c.469-5C>A (n.469-5C>A) n.2885C>A c.525C>A (p.Pro175=) c.433-5C>A (n.433-5C>A) c.258C>A (p.Pro86=) c.-128-5C>A (n.-128-5C>A) | COSMIC |
X | g.154031292G>A | CA415173812 | MECP2 | c.536C>T (p.Pro179Leu) c.572C>T (p.Pro191Leu) c.65+104C>T c.469-6C>T (n.469-6C>T) n.2884C>T c.524C>T (p.Pro175Leu) c.433-6C>T (n.433-6C>T) c.257C>T (p.Pro86Leu) c.-128-6C>T (n.-128-6C>T) | ClinVar |
X | g.154031292G>C | CA10558595 | MECP2 | c.536C>G (p.Pro179Arg) c.572C>G (p.Pro191Arg) c.65+104C>G c.469-6C>G (n.469-6C>G) n.2884C>G c.524C>G (p.Pro175Arg) c.433-6C>G (n.433-6C>G) c.257C>G (p.Pro86Arg) c.-128-6C>G (n.-128-6C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154031292G= | CA2466570944 | MECP2 | c.536C= (p.Pro179=) c.572C= (p.Pro191=) c.65+104C= c.469-6C= (n.469-6C=) n.2884C= c.524C= (p.Pro175=) c.433-6C= (n.433-6C=) c.257C= (p.Pro86=) c.-128-6C= (n.-128-6C=) | |
X | g.154031292G>T | CA415173826 | MECP2 | c.536C>A (p.Pro179His) c.572C>A (p.Pro191His) c.65+104C>A c.469-6C>A (n.469-6C>A) n.2884C>A c.524C>A (p.Pro175His) c.433-6C>A (n.433-6C>A) c.257C>A (p.Pro86His) c.-128-6C>A (n.-128-6C>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154031293G>A | CA415173837 | MECP2 | c.535C>T (p.Pro179Ser) c.571C>T (p.Pro191Ser) c.65+103C>T c.469-7C>T (n.469-7C>T) n.2883C>T c.523C>T (p.Pro175Ser) c.433-7C>T (n.433-7C>T) c.256C>T (p.Pro86Ser) c.-128-7C>T (n.-128-7C>T) | ClinVar gnomAD v4 |
X | g.154031293G>C | CA415173835 | MECP2 | c.535C>G (p.Pro179Ala) c.571C>G (p.Pro191Ala) c.65+103C>G c.469-7C>G (n.469-7C>G) n.2883C>G c.523C>G (p.Pro175Ala) c.433-7C>G (n.433-7C>G) c.256C>G (p.Pro86Ala) c.-128-7C>G (n.-128-7C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.154031293G= | CA2466570945 | MECP2 | c.535C= (p.Pro179=) c.571C= (p.Pro191=) c.65+103C= c.469-7C= (n.469-7C=) n.2883C= c.523C= (p.Pro175=) c.433-7C= (n.433-7C=) c.256C= (p.Pro86=) c.-128-7C= (n.-128-7C=) | |
X | g.154031293G>T | CA415173830 | MECP2 | c.535C>A (p.Pro179Thr) c.571C>A (p.Pro191Thr) c.65+103C>A c.469-7C>A (n.469-7C>A) n.2883C>A c.523C>A (p.Pro175Thr) c.433-7C>A (n.433-7C>A) c.256C>A (p.Pro86Thr) c.-128-7C>A (n.-128-7C>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154031294A>C | CA519705698 | MECP2 | c.534T>G (p.Ser178=) c.570T>G (p.Ser190=) c.65+102T>G c.469-8T>G (n.469-8T>G) n.2882T>G c.522T>G (p.Ser174=) c.433-8T>G (n.433-8T>G) c.255T>G (p.Ser85=) c.-128-8T>G (n.-128-8T>G) | |
X | g.154031294A>G | CA519705701 | MECP2 | c.534T>C (p.Ser178=) c.570T>C (p.Ser190=) c.65+102T>C c.469-8T>C (n.469-8T>C) n.2882T>C c.522T>C (p.Ser174=) c.433-8T>C (n.433-8T>C) c.255T>C (p.Ser85=) c.-128-8T>C (n.-128-8T>C) | |
X | g.154031294A>T | CA519705700 | MECP2 | c.534T>A (p.Ser178=) c.570T>A (p.Ser190=) c.65+102T>A c.469-8T>A (n.469-8T>A) n.2882T>A c.522T>A (p.Ser174=) c.433-8T>A (n.433-8T>A) c.255T>A (p.Ser85=) c.-128-8T>A (n.-128-8T>A) |