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_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.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.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) | |
X | g.154031295G>A | CA415173841 | MECP2 | c.533C>T (p.Ser178Phe) c.569C>T (p.Ser190Phe) c.65+101C>T c.469-9C>T (n.469-9C>T) n.2881C>T c.521C>T (p.Ser174Phe) c.433-9C>T (n.433-9C>T) c.254C>T (p.Ser85Phe) c.-128-9C>T (n.-128-9C>T) | |
X | g.154031295G>C | CA10558596 | MECP2 | c.533C>G (p.Ser178Cys) c.569C>G (p.Ser190Cys) c.65+101C>G c.469-9C>G (n.469-9C>G) n.2881C>G c.521C>G (p.Ser174Cys) c.433-9C>G (n.433-9C>G) c.254C>G (p.Ser85Cys) c.-128-9C>G (n.-128-9C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154031295G= | CA2466570946 | MECP2 | c.533C= (p.Ser178=) c.569C= (p.Ser190=) c.65+101C= c.469-9C= (n.469-9C=) n.2881C= c.521C= (p.Ser174=) c.433-9C= (n.433-9C=) c.254C= (p.Ser85=) c.-128-9C= (n.-128-9C=) | |
X | g.154031295G>T | CA415173845 | MECP2 | c.533C>A (p.Ser178Tyr) c.569C>A (p.Ser190Tyr) c.65+101C>A c.469-9C>A (n.469-9C>A) n.2881C>A c.521C>A (p.Ser174Tyr) c.433-9C>A (n.433-9C>A) c.254C>A (p.Ser85Tyr) c.-128-9C>A (n.-128-9C>A) | |
X | g.154031296A= | CA2466570948 | MECP2 | c.532T= (p.Ser178=) c.568T= (p.Ser190=) c.65+100T= c.469-10T= (n.469-10T=) n.2880T= c.520T= (p.Ser174=) c.433-10T= (n.433-10T=) c.253T= (p.Ser85=) c.-128-10T= (n.-128-10T=) | |
X | g.154031296A>C | CA415173850 | MECP2 | c.532T>G (p.Ser178Ala) c.568T>G (p.Ser190Ala) c.65+100T>G c.469-10T>G (n.469-10T>G) n.2880T>G c.520T>G (p.Ser174Ala) c.433-10T>G (n.433-10T>G) c.253T>G (p.Ser85Ala) c.-128-10T>G (n.-128-10T>G) | |
X | g.154031296A>G | CA415173852 | MECP2 | c.532T>C (p.Ser178Pro) c.568T>C (p.Ser190Pro) c.65+100T>C c.469-10T>C (n.469-10T>C) n.2880T>C c.520T>C (p.Ser174Pro) c.433-10T>C (n.433-10T>C) c.253T>C (p.Ser85Pro) c.-128-10T>C (n.-128-10T>C) | dbSNP |
X | g.154031296A>T | CA415173851 | MECP2 | c.532T>A (p.Ser178Thr) c.568T>A (p.Ser190Thr) c.65+100T>A c.469-10T>A (n.469-10T>A) n.2880T>A c.520T>A (p.Ser174Thr) c.433-10T>A (n.433-10T>A) c.253T>A (p.Ser85Thr) c.-128-10T>A (n.-128-10T>A) | |
X | g.154031296_154031297delinsAT | CA2466570947 | MECP2 | c.531_532delinsAT (p.Lys177=) c.567_568delinsAT (p.Lys189=) c.65+99_65+100delinsAT c.469-11_469-10delinsAT (n.469-11_469-10delinsAT) n.2879_2880delinsAT c.519_520delinsAT (p.Lys173=) c.433-11_433-10delinsAT (n.433-11_433-10delinsAT) c.252_253delinsAT (p.Lys84=) c.-128-11_-128-10delinsAT (n.-128-11_-128-10delinsAT) | |
X | g.154031297T>A | CA415173853 | MECP2 | c.531A>T (p.Lys177Asn) c.567A>T (p.Lys189Asn) c.65+99A>T c.469-11A>T (n.469-11A>T) n.2879A>T c.519A>T (p.Lys173Asn) c.433-11A>T (n.433-11A>T) c.252A>T (p.Lys84Asn) c.-128-11A>T (n.-128-11A>T) | |
X | g.154031297T>C | CA519705703 | MECP2 | c.531A>G (p.Lys177=) c.567A>G (p.Lys189=) c.65+99A>G c.469-11A>G (n.469-11A>G) n.2879A>G c.519A>G (p.Lys173=) c.433-11A>G (n.433-11A>G) c.252A>G (p.Lys84=) c.-128-11A>G (n.-128-11A>G) | ClinVar dbSNP gnomAD v4 |
X | g.154031297T>G | CA415173854 | MECP2 | c.531A>C (p.Lys177Asn) c.567A>C (p.Lys189Asn) c.65+99A>C c.469-11A>C (n.469-11A>C) n.2879A>C c.519A>C (p.Lys173Asn) c.433-11A>C (n.433-11A>C) c.252A>C (p.Lys84Asn) c.-128-11A>C (n.-128-11A>C) | |
X | g.154031297T= | CA2466570949 | MECP2 | c.531A= (p.Lys177=) c.567A= (p.Lys189=) c.65+99A= c.469-11A= (n.469-11A=) n.2879A= c.519A= (p.Lys173=) c.433-11A= (n.433-11A=) c.252A= (p.Lys84=) c.-128-11A= (n.-128-11A=) | |
X | g.154031299del | CA270461 | MECP2 | c.531del (p.Lys177AsnfsTer?) c.567del (p.Lys189AsnfsTer?) c.65+99del c.469-11del (n.469-11del) n.2879del c.519del (p.Lys173AsnfsTer?) c.433-11del (n.433-11del) c.252del (p.Lys84AsnfsTer?) c.-128-11del (n.-128-11del) | ClinVar dbSNP |
X | g.154031298T>A | CA415173857 | MECP2 | c.530A>T (p.Lys177Ile) c.566A>T (p.Lys189Ile) c.65+98A>T c.469-12A>T (n.469-12A>T) n.2878A>T c.518A>T (p.Lys173Ile) c.433-12A>T (n.433-12A>T) c.251A>T (p.Lys84Ile) c.-128-12A>T (n.-128-12A>T) | |
X | g.154031298T>C | CA415173864 | MECP2 | c.530A>G (p.Lys177Arg) c.566A>G (p.Lys189Arg) c.65+98A>G c.469-12A>G (n.469-12A>G) n.2878A>G c.518A>G (p.Lys173Arg) c.433-12A>G (n.433-12A>G) c.251A>G (p.Lys84Arg) c.-128-12A>G (n.-128-12A>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154031298T>G | CA415173867 | MECP2 | c.530A>C (p.Lys177Thr) c.566A>C (p.Lys189Thr) c.65+98A>C c.469-12A>C (n.469-12A>C) n.2878A>C c.518A>C (p.Lys173Thr) c.433-12A>C (n.433-12A>C) c.251A>C (p.Lys84Thr) c.-128-12A>C (n.-128-12A>C) | gnomAD v4 |
X | g.154031298T= | CA2466570950 | MECP2 | c.530A= (p.Lys177=) c.566A= (p.Lys189=) c.65+98A= c.469-12A= (n.469-12A=) n.2878A= c.518A= (p.Lys173=) c.433-12A= (n.433-12A=) c.251A= (p.Lys84=) c.-128-12A= (n.-128-12A=) | |
X | g.154031299T>A | CA232983 | MECP2 | c.529A>T (p.Lys177Ter) c.565A>T (p.Lys189Ter) c.65+97A>T c.469-13A>T (n.469-13A>T) n.2877A>T c.517A>T (p.Lys173Ter) c.433-13A>T (n.433-13A>T) c.250A>T (p.Lys84Ter) c.-128-13A>T (n.-128-13A>T) | ClinVar dbSNP |
X | g.154031299T>C | CA10558597 | MECP2 | c.529A>G (p.Lys177Glu) c.565A>G (p.Lys189Glu) c.65+97A>G c.469-13A>G (n.469-13A>G) n.2877A>G c.517A>G (p.Lys173Glu) c.433-13A>G (n.433-13A>G) c.250A>G (p.Lys84Glu) c.-128-13A>G (n.-128-13A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154031299T>G | CA415173870 | MECP2 | c.529A>C (p.Lys177Gln) c.565A>C (p.Lys189Gln) c.65+97A>C c.469-13A>C (n.469-13A>C) n.2877A>C c.517A>C (p.Lys173Gln) c.433-13A>C (n.433-13A>C) c.250A>C (p.Lys84Gln) c.-128-13A>C (n.-128-13A>C) | gnomAD v4 |
X | g.154031299T= | CA2466570951 | MECP2 | c.529A= (p.Lys177=) c.565A= (p.Lys189=) c.65+97A= c.469-13A= (n.469-13A=) n.2877A= c.517A= (p.Lys173=) c.433-13A= (n.433-13A=) c.250A= (p.Lys84=) c.-128-13A= (n.-128-13A=) | |
X | g.154031300G>A | CA206921 | MECP2 | c.528C>T (p.Pro176=) c.564C>T (p.Pro188=) c.65+96C>T c.469-14C>T (n.469-14C>T) n.2876C>T c.516C>T (p.Pro172=) c.433-14C>T (n.433-14C>T) c.249C>T (p.Pro83=) c.-128-14C>T (n.-128-14C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154031300G>C | CA232982 | MECP2 | c.528C>G (p.Pro176=) c.564C>G (p.Pro188=) c.65+96C>G c.469-14C>G (n.469-14C>G) n.2876C>G c.516C>G (p.Pro172=) c.433-14C>G (n.433-14C>G) c.249C>G (p.Pro83=) c.-128-14C>G (n.-128-14C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.154031300G= | CA2466570952 | MECP2 | c.528C= (p.Pro176=) c.564C= (p.Pro188=) c.65+96C= c.469-14C= (n.469-14C=) n.2876C= c.516C= (p.Pro172=) c.433-14C= (n.433-14C=) c.249C= (p.Pro83=) c.-128-14C= (n.-128-14C=) | |
X | g.154031300G>T | CA519705711 | MECP2 | c.528C>A (p.Pro176=) c.564C>A (p.Pro188=) c.65+96C>A c.469-14C>A (n.469-14C>A) n.2876C>A c.516C>A (p.Pro172=) c.433-14C>A (n.433-14C>A) c.249C>A (p.Pro83=) c.-128-14C>A (n.-128-14C>A) | |
X | g.154031302dup | CA337264333 | MECP2 | c.528dup (p.Lys177GlnfsTer?) c.564dup (p.Lys189GlnfsTer?) c.65+96dup c.469-14dup (n.469-14dup) n.2876dup c.516dup (p.Lys173GlnfsTer?) c.433-14dup (n.433-14dup) c.249dup (p.Lys84GlnfsTer?) c.-128-14dup (n.-128-14dup) | dbSNP |
X | g.154031302del | CA2695197152 | MECP2 | c.528del (p.Lys177AsnfsTer?) c.564del (p.Lys189AsnfsTer?) c.65+96del c.469-14del (n.469-14del) n.2876del c.516del (p.Lys173AsnfsTer?) c.433-14del (n.433-14del) c.249del (p.Lys84AsnfsTer?) c.-128-14del (n.-128-14del) | ClinVar |
X | g.154031301G>A | CA16616643 | MECP2 | c.527C>T (p.Pro176Leu) c.563C>T (p.Pro188Leu) c.65+95C>T c.469-15C>T (n.469-15C>T) n.2875C>T c.515C>T (p.Pro172Leu) c.433-15C>T (n.433-15C>T) c.248C>T (p.Pro83Leu) c.-128-15C>T (n.-128-15C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.154031301G>C | CA170319 | MECP2 | c.527C>G (p.Pro176Arg) c.563C>G (p.Pro188Arg) c.65+95C>G c.469-15C>G (n.469-15C>G) n.2875C>G c.515C>G (p.Pro172Arg) c.433-15C>G (n.433-15C>G) c.248C>G (p.Pro83Arg) c.-128-15C>G (n.-128-15C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154031301G= | CA2466570953 | MECP2 | c.527C= (p.Pro176=) c.563C= (p.Pro188=) c.65+95C= c.469-15C= (n.469-15C=) n.2875C= c.515C= (p.Pro172=) c.433-15C= (n.433-15C=) c.248C= (p.Pro83=) c.-128-15C= (n.-128-15C=) | |
X | g.154031301G>T | CA245268 | MECP2 | c.527C>A (p.Pro176His) c.563C>A (p.Pro188His) c.65+95C>A c.469-15C>A (n.469-15C>A) n.2875C>A c.515C>A (p.Pro172His) c.433-15C>A (n.433-15C>A) c.248C>A (p.Pro83His) c.-128-15C>A (n.-128-15C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154031302G>A | CA10558598 | MECP2 | c.526C>T (p.Pro176Ser) c.562C>T (p.Pro188Ser) c.65+94C>T c.469-16C>T (n.469-16C>T) n.2874C>T c.514C>T (p.Pro172Ser) c.433-16C>T (n.433-16C>T) c.247C>T (p.Pro83Ser) c.-128-16C>T (n.-128-16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.154031302G>C | CA415173876 | MECP2 | c.526C>G (p.Pro176Ala) c.562C>G (p.Pro188Ala) c.65+94C>G c.469-16C>G (n.469-16C>G) n.2874C>G c.514C>G (p.Pro172Ala) c.433-16C>G (n.433-16C>G) c.247C>G (p.Pro83Ala) c.-128-16C>G (n.-128-16C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.154031302G= | CA2466570954 | MECP2 | c.526C= (p.Pro176=) c.562C= (p.Pro188=) c.65+94C= c.469-16C= (n.469-16C=) n.2874C= c.514C= (p.Pro172=) c.433-16C= (n.433-16C=) c.247C= (p.Pro83=) c.-128-16C= (n.-128-16C=) | |
X | g.154031302G>T | CA415173886 | MECP2 | c.526C>A (p.Pro176Thr) c.562C>A (p.Pro188Thr) c.65+94C>A c.469-16C>A (n.469-16C>A) n.2874C>A c.514C>A (p.Pro172Thr) c.433-16C>A (n.433-16C>A) c.247C>A (p.Pro83Thr) c.-128-16C>A (n.-128-16C>A) | |
X | g.154031303C>A | CA415173888 | MECP2 | c.525G>T (p.Lys175Asn) c.561G>T (p.Lys187Asn) c.65+93G>T c.469-17G>T (n.469-17G>T) n.2873G>T c.513G>T (p.Lys171Asn) c.433-17G>T (n.433-17G>T) c.246G>T (p.Lys82Asn) c.-128-17G>T (n.-128-17G>T) | |
X | g.154031303C>G | CA415173898 | MECP2 | c.525G>C (p.Lys175Asn) c.561G>C (p.Lys187Asn) c.65+93G>C c.469-17G>C (n.469-17G>C) n.2873G>C c.513G>C (p.Lys171Asn) c.433-17G>C (n.433-17G>C) c.246G>C (p.Lys82Asn) c.-128-17G>C (n.-128-17G>C) | |
X | g.154031303C>T | CA519705716 | MECP2 | c.525G>A (p.Lys175=) c.561G>A (p.Lys187=) c.65+93G>A c.469-17G>A (n.469-17G>A) n.2873G>A c.513G>A (p.Lys171=) c.433-17G>A (n.433-17G>A) c.246G>A (p.Lys82=) c.-128-17G>A (n.-128-17G>A) | ClinVar |
X | g.154031304T>A | CA415173903 | MECP2 | c.524A>T (p.Lys175Met) c.560A>T (p.Lys187Met) c.65+92A>T c.469-18A>T (n.469-18A>T) n.2872A>T c.512A>T (p.Lys171Met) c.433-18A>T (n.433-18A>T) c.245A>T (p.Lys82Met) c.-128-18A>T (n.-128-18A>T) | |
X | g.154031304T>C | CA415173905 | MECP2 | c.524A>G (p.Lys175Arg) c.560A>G (p.Lys187Arg) c.65+92A>G c.469-18A>G (n.469-18A>G) n.2872A>G c.512A>G (p.Lys171Arg) c.433-18A>G (n.433-18A>G) c.245A>G (p.Lys82Arg) c.-128-18A>G (n.-128-18A>G) | |
X | g.154031304T>G | CA415173908 | MECP2 | c.524A>C (p.Lys175Thr) c.560A>C (p.Lys187Thr) c.65+92A>C c.469-18A>C (n.469-18A>C) n.2872A>C c.512A>C (p.Lys171Thr) c.433-18A>C (n.433-18A>C) c.245A>C (p.Lys82Thr) c.-128-18A>C (n.-128-18A>C) | gnomAD v4 |
X | g.154031305T>A | CA232979 | MECP2 | c.523A>T (p.Lys175Ter) c.559A>T (p.Lys187Ter) c.65+91A>T c.469-19A>T (n.469-19A>T) n.2871A>T c.511A>T (p.Lys171Ter) c.433-19A>T (n.433-19A>T) c.244A>T (p.Lys82Ter) c.-128-19A>T (n.-128-19A>T) | ClinVar dbSNP |
X | g.154031305T>C | CA415173924 | MECP2 | c.523A>G (p.Lys175Glu) c.559A>G (p.Lys187Glu) c.65+91A>G c.469-19A>G (n.469-19A>G) n.2871A>G c.511A>G (p.Lys171Glu) c.433-19A>G (n.433-19A>G) c.244A>G (p.Lys82Glu) c.-128-19A>G (n.-128-19A>G) | |
X | g.154031305T>G | CA415173913 | MECP2 | c.523A>C (p.Lys175Gln) c.559A>C (p.Lys187Gln) c.65+91A>C c.469-19A>C (n.469-19A>C) n.2871A>C c.511A>C (p.Lys171Gln) c.433-19A>C (n.433-19A>C) c.244A>C (p.Lys82Gln) c.-128-19A>C (n.-128-19A>C) | |
X | g.154031305T= | CA2466570955 | MECP2 | c.523A= (p.Lys175=) c.559A= (p.Lys187=) c.65+91A= c.469-19A= (n.469-19A=) n.2871A= c.511A= (p.Lys171=) c.433-19A= (n.433-19A=) c.244A= (p.Lys82=) c.-128-19A= (n.-128-19A=) | |
X | g.154031306C>A | CA415173930 | MECP2 | c.522G>T (p.Lys174Asn) c.558G>T (p.Lys186Asn) c.65+90G>T c.469-20G>T (n.469-20G>T) n.2870G>T c.510G>T (p.Lys170Asn) c.433-20G>T (n.433-20G>T) c.243G>T (p.Lys81Asn) c.-128-20G>T (n.-128-20G>T) | |
X | g.154031306C>G | CA415173931 | MECP2 | c.522G>C (p.Lys174Asn) c.558G>C (p.Lys186Asn) c.65+90G>C c.469-20G>C (n.469-20G>C) n.2870G>C c.510G>C (p.Lys170Asn) c.433-20G>C (n.433-20G>C) c.243G>C (p.Lys81Asn) c.-128-20G>C (n.-128-20G>C) | |
X | g.154031306C>T | CA519705725 | MECP2 | c.522G>A (p.Lys174=) c.558G>A (p.Lys186=) c.65+90G>A c.469-20G>A (n.469-20G>A) n.2870G>A c.510G>A (p.Lys170=) c.433-20G>A (n.433-20G>A) c.243G>A (p.Lys81=) c.-128-20G>A (n.-128-20G>A) | |
X | g.154031307T>A | CA415173932 | MECP2 | c.521A>T (p.Lys174Met) c.557A>T (p.Lys186Met) c.65+89A>T c.469-21A>T (n.469-21A>T) n.2869A>T c.507A>T (p.Ter169Tyr) c.509A>T (p.Lys170Met) c.433-21A>T (n.433-21A>T) c.242A>T (p.Lys81Met) c.-128-21A>T (n.-128-21A>T) | |
X | g.154031307T>C | CA10558599 | MECP2 | c.521A>G (p.Lys174Arg) c.557A>G (p.Lys186Arg) c.65+89A>G c.469-21A>G (n.469-21A>G) n.2869A>G c.507A>G (p.Ter169=) c.509A>G (p.Lys170Arg) c.433-21A>G (n.433-21A>G) c.242A>G (p.Lys81Arg) c.-128-21A>G (n.-128-21A>G) | dbSNP ExAC |
X | g.154031307T>G | CA415173936 | MECP2 | c.521A>C (p.Lys174Thr) c.557A>C (p.Lys186Thr) c.65+89A>C c.469-21A>C (n.469-21A>C) n.2869A>C c.507A>C (p.Ter169Tyr) c.509A>C (p.Lys170Thr) c.433-21A>C (n.433-21A>C) c.242A>C (p.Lys81Thr) c.-128-21A>C (n.-128-21A>C) | ClinVar dbSNP |
X | g.154031307T= | CA2466570956 | MECP2 | c.521A= (p.Lys174=) c.557A= (p.Lys186=) c.65+89A= c.469-21A= (n.469-21A=) n.2869A= c.507A= (p.Ter169=) c.509A= (p.Lys170=) c.433-21A= (n.433-21A=) c.242A= (p.Lys81=) c.-128-21A= (n.-128-21A=) | |
X | g.154031308T>A | CA415173938 | MECP2 | c.520A>T (p.Lys174Ter) c.556A>T (p.Lys186Ter) c.65+88A>T c.469-22A>T (n.469-22A>T) n.2868A>T c.506A>T (p.Ter169Leu) c.508A>T (p.Lys170Ter) c.433-22A>T (n.433-22A>T) c.241A>T (p.Lys81Ter) c.-128-22A>T (n.-128-22A>T) | |
X | g.154031308T>C | CA10558600 | MECP2 | c.520A>G (p.Lys174Glu) c.556A>G (p.Lys186Glu) c.65+88A>G c.469-22A>G (n.469-22A>G) n.2868A>G c.506A>G (p.Ter169=) c.508A>G (p.Lys170Glu) c.433-22A>G (n.433-22A>G) c.241A>G (p.Lys81Glu) c.-128-22A>G (n.-128-22A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154031308T>G | CA415173940 | MECP2 | c.520A>C (p.Lys174Gln) c.556A>C (p.Lys186Gln) c.65+88A>C c.469-22A>C (n.469-22A>C) n.2868A>C c.506A>C (p.Ter169Ser) c.508A>C (p.Lys170Gln) c.433-22A>C (n.433-22A>C) c.241A>C (p.Lys81Gln) c.-128-22A>C (n.-128-22A>C) | ClinVar |
X | g.154031308T= | CA2466570957 | MECP2 | c.520A= (p.Lys174=) c.556A= (p.Lys186=) c.65+88A= c.469-22A= (n.469-22A=) n.2868A= c.506A= (p.Ter169=) c.508A= (p.Lys170=) c.433-22A= (n.433-22A=) c.241A= (p.Lys81=) c.-128-22A= (n.-128-22A=) | |
X | g.154031309A>C | CA415173941 | MECP2 | c.519T>G (p.Pro173=) c.555T>G (p.Pro185=) c.65+87T>G c.469-23T>G (n.469-23T>G) n.2867T>G c.505T>G (p.Ter169Glu) c.507T>G (p.Pro169=) c.433-23T>G (n.433-23T>G) c.240T>G (p.Pro80=) c.-128-23T>G (n.-128-23T>G) | |
X | g.154031309A>G | CA415173943 | MECP2 | c.519T>C (p.Pro173=) c.555T>C (p.Pro185=) c.65+87T>C c.469-23T>C (n.469-23T>C) n.2867T>C c.505T>C (p.Ter169Gln) c.507T>C (p.Pro169=) c.433-23T>C (n.433-23T>C) c.240T>C (p.Pro80=) c.-128-23T>C (n.-128-23T>C) | |
X | g.154031309A>T | CA415173950 | MECP2 | c.519T>A (p.Pro173=) c.555T>A (p.Pro185=) c.65+87T>A c.469-23T>A (n.469-23T>A) n.2867T>A c.505T>A (p.Ter169Lys) c.507T>A (p.Pro169=) c.433-23T>A (n.433-23T>A) c.240T>A (p.Pro80=) c.-128-23T>A (n.-128-23T>A) | |
X | g.154031310G>A | CA415173955 | MECP2 | c.518C>T (p.Pro173Leu) c.554C>T (p.Pro185Leu) c.65+86C>T c.469-24C>T (n.469-24C>T) n.2866C>T c.504C>T (p.Thr168=) c.506C>T (p.Pro169Leu) c.433-24C>T (n.433-24C>T) c.239C>T (p.Pro80Leu) c.-128-24C>T (n.-128-24C>T) | gnomAD v4 |
X | g.154031310G>C | CA170316 | MECP2 | c.518C>G (p.Pro173Arg) c.554C>G (p.Pro185Arg) c.65+86C>G c.469-24C>G (n.469-24C>G) n.2866C>G c.504C>G (p.Thr168=) c.506C>G (p.Pro169Arg) c.433-24C>G (n.433-24C>G) c.239C>G (p.Pro80Arg) c.-128-24C>G (n.-128-24C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154031310G= | CA2466570958 | MECP2 | c.518C= (p.Pro173=) c.554C= (p.Pro185=) c.65+86C= c.469-24C= (n.469-24C=) n.2866C= c.504C= (p.Thr168=) c.506C= (p.Pro169=) c.433-24C= (n.433-24C=) c.239C= (p.Pro80=) c.-128-24C= (n.-128-24C=) | |
X | g.154031310G>T | CA415173953 | MECP2 | c.518C>A (p.Pro173His) c.554C>A (p.Pro185His) c.65+86C>A c.469-24C>A (n.469-24C>A) n.2866C>A c.504C>A (p.Thr168=) c.506C>A (p.Pro169His) c.433-24C>A (n.433-24C>A) c.239C>A (p.Pro80His) c.-128-24C>A (n.-128-24C>A) | |
X | g.154031311G>A | CA415173957 | MECP2 | c.517C>T (p.Pro173Ser) c.553C>T (p.Pro185Ser) c.65+85C>T c.469-25C>T (n.469-25C>T) n.2865C>T c.503C>T (p.Thr168Ile) c.505C>T (p.Pro169Ser) c.433-25C>T (n.433-25C>T) c.238C>T (p.Pro80Ser) c.-128-25C>T (n.-128-25C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154031311G>C | CA270458 | MECP2 | c.517C>G (p.Pro173Ala) c.553C>G (p.Pro185Ala) c.65+85C>G c.469-25C>G (n.469-25C>G) n.2865C>G c.503C>G (p.Thr168Ser) c.505C>G (p.Pro169Ala) c.433-25C>G (n.433-25C>G) c.238C>G (p.Pro80Ala) c.-128-25C>G (n.-128-25C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154031311G= | CA2466570959 | MECP2 | c.517C= (p.Pro173=) c.553C= (p.Pro185=) c.65+85C= c.469-25C= (n.469-25C=) n.2865C= c.503C= (p.Thr168=) c.505C= (p.Pro169=) c.433-25C= (n.433-25C=) c.238C= (p.Pro80=) c.-128-25C= (n.-128-25C=) | |
X | g.154031311G>T | CA415173958 | MECP2 | c.517C>A (p.Pro173Thr) c.553C>A (p.Pro185Thr) c.65+85C>A c.469-25C>A (n.469-25C>A) n.2865C>A c.503C>A (p.Thr168Asn) c.505C>A (p.Pro169Thr) c.433-25C>A (n.433-25C>A) c.238C>A (p.Pro80Thr) c.-128-25C>A (n.-128-25C>A) | ClinVar dbSNP gnomAD v4 |
X | g.154031312T>A | CA415173960 | MECP2 | c.516A>T (p.Pro172=) c.552A>T (p.Pro184=) c.65+84A>T c.469-26A>T (n.469-26A>T) n.2864A>T c.502A>T (p.Thr168Ser) c.504A>T (p.Pro168=) c.433-26A>T (n.433-26A>T) c.237A>T (p.Pro79=) c.-128-26A>T (n.-128-26A>T) | |
X | g.154031312T>C | CA415173962 | MECP2 | c.516A>G (p.Pro172=) c.552A>G (p.Pro184=) c.65+84A>G c.469-26A>G (n.469-26A>G) n.2864A>G c.502A>G (p.Thr168Ala) c.504A>G (p.Pro168=) c.433-26A>G (n.433-26A>G) c.237A>G (p.Pro79=) c.-128-26A>G (n.-128-26A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154031312T>G | CA415173966 | MECP2 | c.516A>C (p.Pro172=) c.552A>C (p.Pro184=) c.65+84A>C c.469-26A>C (n.469-26A>C) n.2864A>C c.502A>C (p.Thr168Pro) c.504A>C (p.Pro168=) c.433-26A>C (n.433-26A>C) c.237A>C (p.Pro79=) c.-128-26A>C (n.-128-26A>C) | |
X | g.154031312T= | CA2466570960 | MECP2 | c.516A= (p.Pro172=) c.552A= (p.Pro184=) c.65+84A= c.469-26A= (n.469-26A=) n.2864A= c.502A= (p.Thr168=) c.504A= (p.Pro168=) c.433-26A= (n.433-26A=) c.237A= (p.Pro79=) c.-128-26A= (n.-128-26A=) | |
X | g.154031313G>A | CA170313 | MECP2 | c.515C>T (p.Pro172Leu) c.551C>T (p.Pro184Leu) c.65+83C>T c.469-27C>T (n.469-27C>T) n.2863C>T c.501C>T (p.Thr167=) c.503C>T (p.Pro168Leu) c.433-27C>T (n.433-27C>T) c.236C>T (p.Pro79Leu) c.-128-27C>T (n.-128-27C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154031313G>C | CA415173970 | MECP2 | c.515C>G (p.Pro172Arg) c.551C>G (p.Pro184Arg) c.65+83C>G c.469-27C>G (n.469-27C>G) n.2863C>G c.501C>G (p.Thr167=) c.503C>G (p.Pro168Arg) c.433-27C>G (n.433-27C>G) c.236C>G (p.Pro79Arg) c.-128-27C>G (n.-128-27C>G) | gnomAD v4 |
X | g.154031313G= | CA2466570961 | MECP2 | c.515C= (p.Pro172=) c.551C= (p.Pro184=) c.65+83C= c.469-27C= (n.469-27C=) n.2863C= c.501C= (p.Thr167=) c.503C= (p.Pro168=) c.433-27C= (n.433-27C=) c.236C= (p.Pro79=) c.-128-27C= (n.-128-27C=) | |
X | g.154031313G>T | CA415173973 | MECP2 | c.515C>A (p.Pro172Gln) c.551C>A (p.Pro184Gln) c.65+83C>A c.469-27C>A (n.469-27C>A) n.2863C>A c.501C>A (p.Thr167=) c.503C>A (p.Pro168Gln) c.433-27C>A (n.433-27C>A) c.236C>A (p.Pro79Gln) c.-128-27C>A (n.-128-27C>A) | |
X | g.154031314G>A | CA170310 | MECP2 | c.514C>T (p.Pro172Ser) c.550C>T (p.Pro184Ser) c.65+82C>T c.469-28C>T (n.469-28C>T) n.2862C>T c.500C>T (p.Thr167Ile) c.502C>T (p.Pro168Ser) c.433-28C>T (n.433-28C>T) c.235C>T (p.Pro79Ser) c.-128-28C>T (n.-128-28C>T) | ClinVar dbSNP gnomAD v4 |
X | g.154031314G>C | CA415173980 | MECP2 | c.514C>G (p.Pro172Ala) c.550C>G (p.Pro184Ala) c.65+82C>G c.469-28C>G (n.469-28C>G) n.2862C>G c.500C>G (p.Thr167Ser) c.502C>G (p.Pro168Ala) c.433-28C>G (n.433-28C>G) c.235C>G (p.Pro79Ala) c.-128-28C>G (n.-128-28C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154031314G= | CA2466570962 | MECP2 | c.514C= (p.Pro172=) c.550C= (p.Pro184=) c.65+82C= c.469-28C= (n.469-28C=) n.2862C= c.500C= (p.Thr167=) c.502C= (p.Pro168=) c.433-28C= (n.433-28C=) c.235C= (p.Pro79=) c.-128-28C= (n.-128-28C=) | |
X | g.154031314G>T | CA415173983 | MECP2 | c.514C>A (p.Pro172Thr) c.550C>A (p.Pro184Thr) c.65+82C>A c.469-28C>A (n.469-28C>A) n.2862C>A c.500C>A (p.Thr167Asn) c.502C>A (p.Pro168Thr) c.433-28C>A (n.433-28C>A) c.235C>A (p.Pro79Thr) c.-128-28C>A (n.-128-28C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.154031315T>A | CA415173992 | MECP2 | c.513A>T (p.Lys171Asn) c.549A>T (p.Lys183Asn) c.65+81A>T c.469-29A>T (n.469-29A>T) n.2861A>T c.499A>T (p.Thr167Ser) c.501A>T (p.Lys167Asn) c.433-29A>T (n.433-29A>T) c.234A>T (p.Lys78Asn) c.-128-29A>T (n.-128-29A>T) | |
X | g.154031315T>C | CA10558601 | MECP2 | c.513A>G (p.Lys171=) c.549A>G (p.Lys183=) c.65+81A>G c.469-29A>G (n.469-29A>G) n.2861A>G c.499A>G (p.Thr167Ala) c.501A>G (p.Lys167=) c.433-29A>G (n.433-29A>G) c.234A>G (p.Lys78=) c.-128-29A>G (n.-128-29A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154031315T>G | CA415173986 | MECP2 | c.513A>C (p.Lys171Asn) c.549A>C (p.Lys183Asn) c.65+81A>C c.469-29A>C (n.469-29A>C) n.2861A>C c.499A>C (p.Thr167Pro) c.501A>C (p.Lys167Asn) c.433-29A>C (n.433-29A>C) c.234A>C (p.Lys78Asn) c.-128-29A>C (n.-128-29A>C) | |
X | g.154031315T= | CA2466570963 | MECP2 | c.513A= (p.Lys171=) c.549A= (p.Lys183=) c.65+81A= c.469-29A= (n.469-29A=) n.2861A= c.499A= (p.Thr167=) c.501A= (p.Lys167=) c.433-29A= (n.433-29A=) c.234A= (p.Lys78=) c.-128-29A= (n.-128-29A=) | |
X | g.154031316T>A | CA415174008 | MECP2 | c.512A>T (p.Lys171Ile) c.548A>T (p.Lys183Ile) c.65+80A>T c.469-30A>T (n.469-30A>T) n.2860A>T c.498A>T (p.Glu166Asp) c.500A>T (p.Lys167Ile) c.433-30A>T (n.433-30A>T) c.233A>T (p.Lys78Ile) c.-128-30A>T (n.-128-30A>T) | |
X | g.154031316T>C | CA415174001 | MECP2 | c.512A>G (p.Lys171Arg) c.548A>G (p.Lys183Arg) c.65+80A>G c.469-30A>G (n.469-30A>G) n.2860A>G c.498A>G (p.Glu166=) c.500A>G (p.Lys167Arg) c.433-30A>G (n.433-30A>G) c.233A>G (p.Lys78Arg) c.-128-30A>G (n.-128-30A>G) | gnomAD v4 |
X | g.154031316T>G | CA415174005 | MECP2 | c.512A>C (p.Lys171Thr) c.548A>C (p.Lys183Thr) c.65+80A>C c.469-30A>C (n.469-30A>C) n.2860A>C c.498A>C (p.Glu166Asp) c.500A>C (p.Lys167Thr) c.433-30A>C (n.433-30A>C) c.233A>C (p.Lys78Thr) c.-128-30A>C (n.-128-30A>C) | |
X | g.154031317T>A | CA415174010 | MECP2 | c.511A>T (p.Lys171Ter) c.547A>T (p.Lys183Ter) c.65+79A>T c.469-31A>T (n.469-31A>T) n.2859A>T c.497A>T (p.Glu166Val) c.499A>T (p.Lys167Ter) c.433-31A>T (n.433-31A>T) c.232A>T (p.Lys78Ter) c.-128-31A>T (n.-128-31A>T) | |
X | g.154031317T>C | CA415174012 | MECP2 | c.511A>G (p.Lys171Glu) c.547A>G (p.Lys183Glu) c.65+79A>G c.469-31A>G (n.469-31A>G) n.2859A>G c.497A>G (p.Glu166Gly) c.499A>G (p.Lys167Glu) c.433-31A>G (n.433-31A>G) c.232A>G (p.Lys78Glu) c.-128-31A>G (n.-128-31A>G) | |
X | g.154031317T>G | CA10558602 | MECP2 | c.511A>C (p.Lys171Gln) c.547A>C (p.Lys183Gln) c.65+79A>C c.469-31A>C (n.469-31A>C) n.2859A>C c.497A>C (p.Glu166Ala) c.499A>C (p.Lys167Gln) c.433-31A>C (n.433-31A>C) c.232A>C (p.Lys78Gln) c.-128-31A>C (n.-128-31A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154031317T= | CA2466570964 | MECP2 | c.511A= (p.Lys171=) c.547A= (p.Lys183=) c.65+79A= c.469-31A= (n.469-31A=) n.2859A= c.497A= (p.Glu166=) c.499A= (p.Lys167=) c.433-31A= (n.433-31A=) c.232A= (p.Lys78=) c.-128-31A= (n.-128-31A=) | |
X | g.154031318C>A | CA415174021 | MECP2 | c.510G>T (p.Gln170His) c.546G>T (p.Gln182His) c.65+78G>T c.469-32G>T (n.469-32G>T) n.2858G>T c.496G>T (p.Glu166Ter) c.498G>T (p.Gln166His) c.433-32G>T (n.433-32G>T) c.231G>T (p.Gln77His) c.-128-32G>T (n.-128-32G>T) | |
X | g.154031318C>G | CA415174024 | MECP2 | c.510G>C (p.Gln170His) c.546G>C (p.Gln182His) c.65+78G>C c.469-32G>C (n.469-32G>C) n.2858G>C c.496G>C (p.Glu166Gln) c.498G>C (p.Gln166His) c.433-32G>C (n.433-32G>C) c.231G>C (p.Gln77His) c.-128-32G>C (n.-128-32G>C) | |
X | g.154031318C>T | CA415174038 | MECP2 | c.510G>A (p.Gln170=) c.546G>A (p.Gln182=) c.65+78G>A c.469-32G>A (n.469-32G>A) n.2858G>A c.496G>A (p.Glu166Lys) c.498G>A (p.Gln166=) c.433-32G>A (n.433-32G>A) c.231G>A (p.Gln77=) c.-128-32G>A (n.-128-32G>A) | gnomAD v4 |
X | g.154031319T>A | CA415174042 | MECP2 | c.509A>T (p.Gln170Leu) c.545A>T (p.Gln182Leu) c.65+77A>T c.469-33A>T (n.469-33A>T) n.2857A>T c.495A>T (p.Ala165=) c.497A>T (p.Gln166Leu) c.433-33A>T (n.433-33A>T) c.230A>T (p.Gln77Leu) c.-128-33A>T (n.-128-33A>T) | |
X | g.154031319T>C | CA415174043 | MECP2 | c.509A>G (p.Gln170Arg) c.545A>G (p.Gln182Arg) c.65+77A>G c.469-33A>G (n.469-33A>G) n.2857A>G c.495A>G (p.Ala165=) c.497A>G (p.Gln166Arg) c.433-33A>G (n.433-33A>G) c.230A>G (p.Gln77Arg) c.-128-33A>G (n.-128-33A>G) | gnomAD v4 |
X | g.154031319T>G | CA415174044 | MECP2 | c.509A>C (p.Gln170Pro) c.545A>C (p.Gln182Pro) c.65+77A>C c.469-33A>C (n.469-33A>C) n.2857A>C c.495A>C (p.Ala165=) c.497A>C (p.Gln166Pro) c.433-33A>C (n.433-33A>C) c.230A>C (p.Gln77Pro) c.-128-33A>C (n.-128-33A>C) | |
X | g.154031320G>A | CA270454 | MECP2 | c.508C>T (p.Gln170Ter) c.544C>T (p.Gln182Ter) c.65+76C>T c.469-34C>T (n.469-34C>T) n.2856C>T c.494C>T (p.Ala165Val) c.496C>T (p.Gln166Ter) c.433-34C>T (n.433-34C>T) c.229C>T (p.Gln77Ter) c.-128-34C>T (n.-128-34C>T) | ClinVar dbSNP |
X | g.154031320G>C | CA415174045 | MECP2 | c.508C>G (p.Gln170Glu) c.544C>G (p.Gln182Glu) c.65+76C>G c.469-34C>G (n.469-34C>G) n.2856C>G c.494C>G (p.Ala165Gly) c.496C>G (p.Gln166Glu) c.433-34C>G (n.433-34C>G) c.229C>G (p.Gln77Glu) c.-128-34C>G (n.-128-34C>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154031320G= | CA2466570965 | MECP2 | c.508C= (p.Gln170=) c.544C= (p.Gln182=) c.65+76C= c.469-34C= (n.469-34C=) n.2856C= c.494C= (p.Ala165=) c.496C= (p.Gln166=) c.433-34C= (n.433-34C=) c.229C= (p.Gln77=) c.-128-34C= (n.-128-34C=) | |
X | g.154031320G>T | CA415174049 | MECP2 | c.508C>A (p.Gln170Lys) c.544C>A (p.Gln182Lys) c.65+76C>A c.469-34C>A (n.469-34C>A) n.2856C>A c.494C>A (p.Ala165Glu) c.496C>A (p.Gln166Lys) c.433-34C>A (n.433-34C>A) c.229C>A (p.Gln77Lys) c.-128-34C>A (n.-128-34C>A) | |
X | g.154031321C>A | CA415174054 | MECP2 | c.507G>T (p.Glu169Asp) c.543G>T (p.Glu181Asp) c.65+75G>T c.469-35G>T (n.469-35G>T) n.2855G>T c.493G>T (p.Ala165Ser) c.495G>T (p.Glu165Asp) c.433-35G>T (n.433-35G>T) c.228G>T (p.Glu76Asp) c.-128-35G>T (n.-128-35G>T) | |
X | g.154031321C= | CA2466570966 | MECP2 | c.507G= (p.Glu169=) c.543G= (p.Glu181=) c.65+75G= c.469-35G= (n.469-35G=) n.2855G= c.493G= (p.Ala165=) c.495G= (p.Glu165=) c.433-35G= (n.433-35G=) c.228G= (p.Glu76=) c.-128-35G= (n.-128-35G=) | |
X | g.154031321C>G | CA415174058 | MECP2 | c.507G>C (p.Glu169Asp) c.543G>C (p.Glu181Asp) c.65+75G>C c.469-35G>C (n.469-35G>C) n.2855G>C c.493G>C (p.Ala165Pro) c.495G>C (p.Glu165Asp) c.433-35G>C (n.433-35G>C) c.228G>C (p.Glu76Asp) c.-128-35G>C (n.-128-35G>C) | |
X | g.154031321C>T | CA415174064 | MECP2 | c.507G>A (p.Glu169=) c.543G>A (p.Glu181=) c.65+75G>A c.469-35G>A (n.469-35G>A) n.2855G>A c.493G>A (p.Ala165Thr) c.495G>A (p.Glu165=) c.433-35G>A (n.433-35G>A) c.228G>A (p.Glu76=) c.-128-35G>A (n.-128-35G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.154031324_154031325dup | CA2695202121 | MECP2 | c.506_507dup (p.Gln170SerfsTer?) c.542_543dup (p.Gln182SerfsTer?) c.65+74_65+75dup c.469-36_469-35dup (n.469-36_469-35dup) n.2854_2855dup c.492_493dup (p.Ala165GlufsTer?) c.494_495dup (p.Gln166SerfsTer?) c.433-36_433-35dup (n.433-36_433-35dup) c.227_228dup (p.Gln77SerfsTer?) c.-128-36_-128-35dup (n.-128-36_-128-35dup) | ClinVar |
X | g.154031322T>A | CA415174067 | MECP2 | c.506A>T (p.Glu169Val) c.542A>T (p.Glu181Val) c.65+74A>T c.469-36A>T (n.469-36A>T) n.2854A>T c.492A>T (p.Arg164Ser) c.494A>T (p.Glu165Val) c.433-36A>T (n.433-36A>T) c.227A>T (p.Glu76Val) c.-128-36A>T (n.-128-36A>T) | |
X | g.154031322T>C | CA172568 | MECP2 | c.506A>G (p.Glu169Gly) c.542A>G (p.Glu181Gly) c.65+74A>G c.469-36A>G (n.469-36A>G) n.2854A>G c.492A>G (p.Arg164=) c.494A>G (p.Glu165Gly) c.433-36A>G (n.433-36A>G) c.227A>G (p.Glu76Gly) c.-128-36A>G (n.-128-36A>G) | ClinVar dbSNP gnomAD v4 |
X | g.154031322T>G | CA415174075 | MECP2 | c.506A>C (p.Glu169Ala) c.542A>C (p.Glu181Ala) c.65+74A>C c.469-36A>C (n.469-36A>C) n.2854A>C c.492A>C (p.Arg164Ser) c.494A>C (p.Glu165Ala) c.433-36A>C (n.433-36A>C) c.227A>C (p.Glu76Ala) c.-128-36A>C (n.-128-36A>C) | |
X | g.154031322T= | CA2466570967 | MECP2 | c.506A= (p.Glu169=) c.542A= (p.Glu181=) c.65+74A= c.469-36A= (n.469-36A=) n.2854A= c.492A= (p.Arg164=) c.494A= (p.Glu165=) c.433-36A= (n.433-36A=) c.227A= (p.Glu76=) c.-128-36A= (n.-128-36A=) | |
X | g.154031323C>A | CA415174078 | MECP2 | c.505G>T (p.Glu169Ter) c.541G>T (p.Glu181Ter) c.65+73G>T c.469-37G>T (n.469-37G>T) n.2853G>T c.491G>T (p.Arg164Ile) c.493G>T (p.Glu165Ter) c.433-37G>T (n.433-37G>T) c.226G>T (p.Glu76Ter) c.-128-37G>T (n.-128-37G>T) | ClinVar dbSNP |
X | g.154031323C= | CA2466570968 | MECP2 | c.505G= (p.Glu169=) c.541G= (p.Glu181=) c.65+73G= c.469-37G= (n.469-37G=) n.2853G= c.491G= (p.Arg164=) c.493G= (p.Glu165=) c.433-37G= (n.433-37G=) c.226G= (p.Glu76=) c.-128-37G= (n.-128-37G=) | |
X | g.154031323C>G | CA415174081 | MECP2 | c.505G>C (p.Glu169Gln) c.541G>C (p.Glu181Gln) c.65+73G>C c.469-37G>C (n.469-37G>C) n.2853G>C c.491G>C (p.Arg164Thr) c.493G>C (p.Glu165Gln) c.433-37G>C (n.433-37G>C) c.226G>C (p.Glu76Gln) c.-128-37G>C (n.-128-37G>C) | |
X | g.154031323C>T | CA415174086 | MECP2 | c.505G>A (p.Glu169Lys) c.541G>A (p.Glu181Lys) c.65+73G>A c.469-37G>A (n.469-37G>A) n.2853G>A c.491G>A (p.Arg164Lys) c.493G>A (p.Glu165Lys) c.433-37G>A (n.433-37G>A) c.226G>A (p.Glu76Lys) c.-128-37G>A (n.-128-37G>A) | gnomAD v4 |
X | g.154031324T>A | CA415174088 | MECP2 | c.504A>T (p.Arg168=) c.540A>T (p.Arg180=) c.65+72A>T c.469-38A>T (n.469-38A>T) n.2852A>T c.490A>T (p.Arg164Ter) c.492A>T (p.Arg164=) c.433-38A>T (n.433-38A>T) c.225A>T (p.Arg75=) c.-128-38A>T (n.-128-38A>T) | |
X | g.154031324T>C | CA415174093 | MECP2 | c.504A>G (p.Arg168=) c.540A>G (p.Arg180=) c.65+72A>G c.469-38A>G (n.469-38A>G) n.2852A>G c.490A>G (p.Arg164Gly) c.492A>G (p.Arg164=) c.433-38A>G (n.433-38A>G) c.225A>G (p.Arg75=) c.-128-38A>G (n.-128-38A>G) | |
X | g.154031324T>G | CA519705545 | MECP2 | c.504A>C (p.Arg168=) c.540A>C (p.Arg180=) c.65+72A>C c.469-38A>C (n.469-38A>C) n.2852A>C c.490A>C (p.Arg164=) c.492A>C (p.Arg164=) c.433-38A>C (n.433-38A>C) c.225A>C (p.Arg75=) c.-128-38A>C (n.-128-38A>C) | |
X | g.154031325C>A | CA415174108 | MECP2 | c.503G>T (p.Arg168Leu) c.539G>T (p.Arg180Leu) c.65+71G>T c.469-39G>T (n.469-39G>T) n.2851G>T c.489G>T (p.Ala163=) c.491G>T (p.Arg164Leu) c.433-39G>T (n.433-39G>T) c.224G>T (p.Arg75Leu) c.-128-39G>T (n.-128-39G>T) | |
X | g.154031325C>G | CA415174112 | MECP2 | c.503G>C (p.Arg168Pro) c.539G>C (p.Arg180Pro) c.65+71G>C c.469-39G>C (n.469-39G>C) n.2851G>C c.489G>C (p.Ala163=) c.491G>C (p.Arg164Pro) c.433-39G>C (n.433-39G>C) c.224G>C (p.Arg75Pro) c.-128-39G>C (n.-128-39G>C) | ClinVar |
X | g.154031325C>T | CA415174097 | MECP2 | c.503G>A (p.Arg168Gln) c.539G>A (p.Arg180Gln) c.65+71G>A c.469-39G>A (n.469-39G>A) n.2851G>A c.489G>A (p.Ala163=) c.491G>A (p.Arg164Gln) c.433-39G>A (n.433-39G>A) c.224G>A (p.Arg75Gln) c.-128-39G>A (n.-128-39G>A) | |
X | g.154031326G>A | CA256092 | MECP2 | c.502C>T (p.Arg168Ter) c.538C>T (p.Arg180Ter) c.65+70C>T c.469-40C>T (n.469-40C>T) n.2850C>T c.488C>T (p.Ala163Val) c.490C>T (p.Arg164Ter) c.433-40C>T (n.433-40C>T) c.223C>T (p.Arg75Ter) c.-128-40C>T (n.-128-40C>T) | ClinVar dbSNP |
X | g.154031326G>C | CA415174117 | MECP2 | c.502C>G (p.Arg168Gly) c.538C>G (p.Arg180Gly) c.65+70C>G c.469-40C>G (n.469-40C>G) n.2850C>G c.488C>G (p.Ala163Gly) c.490C>G (p.Arg164Gly) c.433-40C>G (n.433-40C>G) c.223C>G (p.Arg75Gly) c.-128-40C>G (n.-128-40C>G) | |
X | g.154031326G= | CA2466570969 | MECP2 | c.502C= (p.Arg168=) c.538C= (p.Arg180=) c.65+70C= c.469-40C= (n.469-40C=) n.2850C= c.488C= (p.Ala163=) c.490C= (p.Arg164=) c.433-40C= (n.433-40C=) c.223C= (p.Arg75=) c.-128-40C= (n.-128-40C=) | |
X | g.154031326G>T | CA274594 | MECP2 | c.502C>A (p.Arg168=) c.538C>A (p.Arg180=) c.65+70C>A c.469-40C>A (n.469-40C>A) n.2850C>A c.488C>A (p.Ala163Glu) c.490C>A (p.Arg164=) c.433-40C>A (n.433-40C>A) c.223C>A (p.Arg75=) c.-128-40C>A (n.-128-40C>A) | ClinVar dbSNP |
X | g.154031327C>A | CA415174134 | MECP2 | c.501G>T (p.Arg167=) c.537G>T (p.Arg179=) c.65+69G>T c.469-41G>T (n.469-41G>T) n.2849G>T c.487G>T (p.Ala163Ser) c.489G>T (p.Arg163=) c.433-41G>T (n.433-41G>T) c.222G>T (p.Arg74=) c.-128-41G>T (n.-128-41G>T) | |
X | g.154031327C>G | CA415174135 | MECP2 | c.501G>C (p.Arg167=) c.537G>C (p.Arg179=) c.65+69G>C c.469-41G>C (n.469-41G>C) n.2849G>C c.487G>C (p.Ala163Pro) c.489G>C (p.Arg163=) c.433-41G>C (n.433-41G>C) c.222G>C (p.Arg74=) c.-128-41G>C (n.-128-41G>C) | |
X | g.154031327C>T | CA415174137 | MECP2 | c.501G>A (p.Arg167=) c.537G>A (p.Arg179=) c.65+69G>A c.469-41G>A (n.469-41G>A) n.2849G>A c.487G>A (p.Ala163Thr) c.489G>A (p.Arg163=) c.433-41G>A (n.433-41G>A) c.222G>A (p.Arg74=) c.-128-41G>A (n.-128-41G>A) | |
X | g.154031328C>A | CA415174140 | MECP2 | c.500G>T (p.Arg167Leu) c.536G>T (p.Arg179Leu) c.65+68G>T c.469-42G>T (n.469-42G>T) n.2848G>T c.486G>T (p.Pro162=) c.488G>T (p.Arg163Leu) c.433-42G>T (n.433-42G>T) c.221G>T (p.Arg74Leu) c.-128-42G>T (n.-128-42G>T) | |
X | g.154031328C>G | CA415174142 | MECP2 | c.500G>C (p.Arg167Pro) c.536G>C (p.Arg179Pro) c.65+68G>C c.469-42G>C (n.469-42G>C) n.2848G>C c.486G>C (p.Pro162=) c.488G>C (p.Arg163Pro) c.433-42G>C (n.433-42G>C) c.221G>C (p.Arg74Pro) c.-128-42G>C (n.-128-42G>C) | ClinVar dbSNP |
X | g.154031328C>T | CA415174145 | MECP2 | c.500G>A (p.Arg167Gln) c.536G>A (p.Arg179Gln) c.65+68G>A c.469-42G>A (n.469-42G>A) n.2848G>A c.486G>A (p.Pro162=) c.488G>A (p.Arg163Gln) c.433-42G>A (n.433-42G>A) c.221G>A (p.Arg74Gln) c.-128-42G>A (n.-128-42G>A) | gnomAD v4 |
X | g.154031329G>A | CA170308 | MECP2 | c.499C>T (p.Arg167Trp) c.535C>T (p.Arg179Trp) c.65+67C>T c.469-43C>T (n.469-43C>T) n.2847C>T c.485C>T (p.Pro162Leu) c.487C>T (p.Arg163Trp) c.433-43C>T (n.433-43C>T) c.220C>T (p.Arg74Trp) c.-128-43C>T (n.-128-43C>T) | ClinVar dbSNP gnomAD v4 |
X | g.154031329G>C | CA415174156 | MECP2 | c.499C>G (p.Arg167Gly) c.535C>G (p.Arg179Gly) c.65+67C>G c.469-43C>G (n.469-43C>G) n.2847C>G c.485C>G (p.Pro162Arg) c.487C>G (p.Arg163Gly) c.433-43C>G (n.433-43C>G) c.220C>G (p.Arg74Gly) c.-128-43C>G (n.-128-43C>G) | |
X | g.154031329G= | CA2466570970 | MECP2 | c.499C= (p.Arg167=) c.535C= (p.Arg179=) c.65+67C= c.469-43C= (n.469-43C=) n.2847C= c.485C= (p.Pro162=) c.487C= (p.Arg163=) c.433-43C= (n.433-43C=) c.220C= (p.Arg74=) c.-128-43C= (n.-128-43C=) | |
X | g.154031329G>T | CA415174159 | MECP2 | c.499C>A (p.Arg167=) c.535C>A (p.Arg179=) c.65+67C>A c.469-43C>A (n.469-43C>A) n.2847C>A c.485C>A (p.Pro162Gln) c.487C>A (p.Arg163=) c.433-43C>A (n.433-43C>A) c.220C>A (p.Arg74=) c.-128-43C>A (n.-128-43C>A) | dbSNP gnomAD v4 |
X | g.154031331dup | CA2695237605 | MECP2 | c.499dup (p.Arg167ProfsTer8) c.535dup (p.Arg179ProfsTer8) c.65+67dup c.469-43dup (n.469-43dup) n.2847dup c.485dup (p.Ala163GlyfsTer?) c.487dup (p.Arg163ProfsTer8) c.433-43dup (n.433-43dup) c.220dup (p.Arg74ProfsTer8) c.-128-43dup (n.-128-43dup) | |
X | g.154031331del | CA2695237604 | MECP2 | c.499del (p.Arg167GlyfsTer?) c.535del (p.Arg179GlyfsTer?) c.65+67del c.469-43del (n.469-43del) n.2847del c.485del (p.Pro162ArgfsTer?) c.487del (p.Arg163GlyfsTer?) c.433-43del (n.433-43del) c.220del (p.Arg74GlyfsTer?) c.-128-43del (n.-128-43del) | |
X | g.154031330G>A | CA415174168 | MECP2 | c.498C>T (p.Ser166=) c.534C>T (p.Ser178=) c.65+66C>T c.469-44C>T (n.469-44C>T) n.2846C>T c.484C>T (p.Pro162Ser) c.486C>T (p.Ser162=) c.433-44C>T (n.433-44C>T) c.219C>T (p.Ser73=) c.-128-44C>T (n.-128-44C>T) | ClinVar dbSNP |
X | g.154031330G>C | CA415174161 | MECP2 | c.498C>G (p.Ser166=) c.534C>G (p.Ser178=) c.65+66C>G c.469-44C>G (n.469-44C>G) n.2846C>G c.484C>G (p.Pro162Ala) c.486C>G (p.Ser162=) c.433-44C>G (n.433-44C>G) c.219C>G (p.Ser73=) c.-128-44C>G (n.-128-44C>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154031330G= | CA2466570971 | MECP2 | c.498C= (p.Ser166=) c.534C= (p.Ser178=) c.65+66C= c.469-44C= (n.469-44C=) n.2846C= c.484C= (p.Pro162=) c.486C= (p.Ser162=) c.433-44C= (n.433-44C=) c.219C= (p.Ser73=) c.-128-44C= (n.-128-44C=) | |
X | g.154031330G>T | CA415174165 | MECP2 | c.498C>A (p.Ser166=) c.534C>A (p.Ser178=) c.65+66C>A c.469-44C>A (n.469-44C>A) n.2846C>A c.484C>A (p.Pro162Thr) c.486C>A (p.Ser162=) c.433-44C>A (n.433-44C>A) c.219C>A (p.Ser73=) c.-128-44C>A (n.-128-44C>A) | |
X | g.154031331G>A | CA415174172 | MECP2 | c.497C>T (p.Ser166Phe) c.533C>T (p.Ser178Phe) c.65+65C>T c.469-45C>T (n.469-45C>T) n.2845C>T c.483C>T (p.Leu161=) c.485C>T (p.Ser162Phe) c.433-45C>T (n.433-45C>T) c.218C>T (p.Ser73Phe) c.-128-45C>T (n.-128-45C>T) | gnomAD v4 |
X | g.154031331G>C | CA415174176 | MECP2 | c.497C>G (p.Ser166Cys) c.533C>G (p.Ser178Cys) c.65+65C>G c.469-45C>G (n.469-45C>G) n.2845C>G c.483C>G (p.Leu161=) c.485C>G (p.Ser162Cys) c.433-45C>G (n.433-45C>G) c.218C>G (p.Ser73Cys) c.-128-45C>G (n.-128-45C>G) | |
X | g.154031331G>T | CA415174177 | MECP2 | c.497C>A (p.Ser166Tyr) c.533C>A (p.Ser178Tyr) c.65+65C>A c.469-45C>A (n.469-45C>A) n.2845C>A c.483C>A (p.Leu161=) c.485C>A (p.Ser162Tyr) c.433-45C>A (n.433-45C>A) c.218C>A (p.Ser73Tyr) c.-128-45C>A (n.-128-45C>A) | |
X | g.154031332A>C | CA415174178 | MECP2 | c.496T>G (p.Ser166Ala) c.532T>G (p.Ser178Ala) c.65+64T>G c.469-46T>G (n.469-46T>G) n.2844T>G c.482T>G (p.Leu161Arg) c.484T>G (p.Ser162Ala) c.433-46T>G (n.433-46T>G) c.217T>G (p.Ser73Ala) c.-128-46T>G (n.-128-46T>G) | |
X | g.154031332A>G | CA415174180 | MECP2 | c.496T>C (p.Ser166Pro) c.532T>C (p.Ser178Pro) c.65+64T>C c.469-46T>C (n.469-46T>C) n.2844T>C c.482T>C (p.Leu161Pro) c.484T>C (p.Ser162Pro) c.433-46T>C (n.433-46T>C) c.217T>C (p.Ser73Pro) c.-128-46T>C (n.-128-46T>C) | |
X | g.154031332A>T | CA415174184 | MECP2 | c.496T>A (p.Ser166Thr) c.532T>A (p.Ser178Thr) c.65+64T>A c.469-46T>A (n.469-46T>A) n.2844T>A c.482T>A (p.Leu161His) c.484T>A (p.Ser162Thr) c.433-46T>A (n.433-46T>A) c.217T>A (p.Ser73Thr) c.-128-46T>A (n.-128-46T>A) | |
X | g.154031332_154031333delinsAG | CA2466570972 | MECP2 | c.495_496delinsCT (p.Pro165=) c.531_532delinsCT (p.Pro177=) c.65+63_65+64delinsCT c.469-47_469-46delinsCT (n.469-47_469-46delinsCT) n.2843_2844delinsCT c.481_482delinsCT (p.Leu161=) c.483_484delinsCT (p.Pro161=) c.433-47_433-46delinsCT (n.433-47_433-46delinsCT) c.216_217delinsCT (p.Pro72=) c.-128-47_-128-46delinsCT (n.-128-47_-128-46delinsCT) | |
X | g.154031333G>A | CA10558603 | MECP2 | c.495C>T (p.Pro165=) c.531C>T (p.Pro177=) c.65+63C>T c.469-47C>T (n.469-47C>T) n.2843C>T c.481C>T (p.Leu161Phe) c.483C>T (p.Pro161=) c.433-47C>T (n.433-47C>T) c.216C>T (p.Pro72=) c.-128-47C>T (n.-128-47C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154031333G>C | CA10558604 | MECP2 | c.495C>G (p.Pro165=) c.531C>G (p.Pro177=) c.65+63C>G c.469-47C>G (n.469-47C>G) n.2843C>G c.481C>G (p.Leu161Val) c.483C>G (p.Pro161=) c.433-47C>G (n.433-47C>G) c.216C>G (p.Pro72=) c.-128-47C>G (n.-128-47C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154031333G= | CA2466570973 | MECP2 | c.495C= (p.Pro165=) c.531C= (p.Pro177=) c.65+63C= c.469-47C= (n.469-47C=) n.2843C= c.481C= (p.Leu161=) c.483C= (p.Pro161=) c.433-47C= (n.433-47C=) c.216C= (p.Pro72=) c.-128-47C= (n.-128-47C=) | |
X | g.154031333G>T | CA415174192 | MECP2 | c.495C>A (p.Pro165=) c.531C>A (p.Pro177=) c.65+63C>A c.469-47C>A (n.469-47C>A) n.2843C>A c.481C>A (p.Leu161Ile) c.483C>A (p.Pro161=) c.433-47C>A (n.433-47C>A) c.216C>A (p.Pro72=) c.-128-47C>A (n.-128-47C>A) | ClinVar |
X | g.154031336del | CA232978 | MECP2 | c.495del (p.Ser166ProfsTer?) c.531del (p.Ser178ProfsTer?) c.65+63del c.469-47del (n.469-47del) n.2843del c.481del (p.Leu161SerfsTer?) c.483del (p.Ser162ProfsTer?) c.433-47del (n.433-47del) c.216del (p.Ser73ProfsTer?) c.-128-47del (n.-128-47del) | ClinVar dbSNP |
X | g.154031334G>A | CA415174237 | MECP2 | c.494C>T (p.Pro165Leu) c.530C>T (p.Pro177Leu) c.65+62C>T c.469-48C>T (n.469-48C>T) n.2842C>T c.480C>T (p.Pro160=) c.482C>T (p.Pro161Leu) c.433-48C>T (n.433-48C>T) c.215C>T (p.Pro72Leu) c.-128-48C>T (n.-128-48C>T) | |
X | g.154031334G>C | CA415174247 | MECP2 | c.494C>G (p.Pro165Arg) c.530C>G (p.Pro177Arg) c.65+62C>G c.469-48C>G (n.469-48C>G) n.2842C>G c.480C>G (p.Pro160=) c.482C>G (p.Pro161Arg) c.433-48C>G (n.433-48C>G) c.215C>G (p.Pro72Arg) c.-128-48C>G (n.-128-48C>G) | |
X | g.154031334G>T | CA415174251 | MECP2 | c.494C>A (p.Pro165His) c.530C>A (p.Pro177His) c.65+62C>A c.469-48C>A (n.469-48C>A) n.2842C>A c.480C>A (p.Pro160=) c.482C>A (p.Pro161His) c.433-48C>A (n.433-48C>A) c.215C>A (p.Pro72His) c.-128-48C>A (n.-128-48C>A) | |
X | g.154031335G>A | CA415174257 | MECP2 | c.493C>T (p.Pro165Ser) c.529C>T (p.Pro177Ser) c.65+61C>T c.469-49C>T (n.469-49C>T) n.2841C>T c.479C>T (p.Pro160Leu) c.481C>T (p.Pro161Ser) c.433-49C>T (n.433-49C>T) c.214C>T (p.Pro72Ser) c.-128-49C>T (n.-128-49C>T) | ClinVar dbSNP |
X | g.154031335G>C | CA415174262 | MECP2 | c.493C>G (p.Pro165Ala) c.529C>G (p.Pro177Ala) c.65+61C>G c.469-49C>G (n.469-49C>G) n.2841C>G c.479C>G (p.Pro160Arg) c.481C>G (p.Pro161Ala) c.433-49C>G (n.433-49C>G) c.214C>G (p.Pro72Ala) c.-128-49C>G (n.-128-49C>G) | |
X | g.154031335G>T | CA415174254 | MECP2 | c.493C>A (p.Pro165Thr) c.529C>A (p.Pro177Thr) c.65+61C>A c.469-49C>A (n.469-49C>A) n.2841C>A c.479C>A (p.Pro160His) c.481C>A (p.Pro161Thr) c.433-49C>A (n.433-49C>A) c.214C>A (p.Pro72Thr) c.-128-49C>A (n.-128-49C>A) | |
X | g.154031336G>A | CA415174267 | MECP2 | c.492C>T (p.Ser164=) c.528C>T (p.Ser176=) c.65+60C>T c.469-50C>T (n.469-50C>T) n.2840C>T c.478C>T (p.Pro160Ser) c.480C>T (p.Ser160=) c.433-50C>T (n.433-50C>T) c.213C>T (p.Ser71=) c.-128-50C>T (n.-128-50C>T) | ClinVar dbSNP |
X | g.154031336G>C | CA415174272 | MECP2 | c.492C>G (p.Ser164Arg) c.528C>G (p.Ser176Arg) c.65+60C>G c.469-50C>G (n.469-50C>G) n.2840C>G c.478C>G (p.Pro160Ala) c.480C>G (p.Ser160Arg) c.433-50C>G (n.433-50C>G) c.213C>G (p.Ser71Arg) c.-128-50C>G (n.-128-50C>G) | |
X | g.154031336G= | CA2466570974 | MECP2 | c.492C= (p.Ser164=) c.528C= (p.Ser176=) c.65+60C= c.469-50C= (n.469-50C=) n.2840C= c.478C= (p.Pro160=) c.480C= (p.Ser160=) c.433-50C= (n.433-50C=) c.213C= (p.Ser71=) c.-128-50C= (n.-128-50C=) | |
X | g.154031336G>T | CA415174268 | MECP2 | c.492C>A (p.Ser164Arg) c.528C>A (p.Ser176Arg) c.65+60C>A c.469-50C>A (n.469-50C>A) n.2840C>A c.478C>A (p.Pro160Thr) c.480C>A (p.Ser160Arg) c.433-50C>A (n.433-50C>A) c.213C>A (p.Ser71Arg) c.-128-50C>A (n.-128-50C>A) | |
X | g.154031337C>A | CA415174278 | MECP2 | c.491G>T (p.Ser164Ile) c.527G>T (p.Ser176Ile) c.65+59G>T c.469-51G>T (n.469-51G>T) n.2839G>T c.477G>T (p.Glu159Asp) c.479G>T (p.Ser160Ile) c.433-51G>T (n.433-51G>T) c.212G>T (p.Ser71Ile) c.-128-51G>T (n.-128-51G>T) | |
X | g.154031337C>G | CA415174308 | MECP2 | c.491G>C (p.Ser164Thr) c.527G>C (p.Ser176Thr) c.65+59G>C c.469-51G>C (n.469-51G>C) n.2839G>C c.477G>C (p.Glu159Asp) c.479G>C (p.Ser160Thr) c.433-51G>C (n.433-51G>C) c.212G>C (p.Ser71Thr) c.-128-51G>C (n.-128-51G>C) | |
X | g.154031337C>T | CA415174281 | MECP2 | c.491G>A (p.Ser164Asn) c.527G>A (p.Ser176Asn) c.65+59G>A c.469-51G>A (n.469-51G>A) n.2839G>A c.477G>A (p.Glu159=) c.479G>A (p.Ser160Asn) c.433-51G>A (n.433-51G>A) c.212G>A (p.Ser71Asn) c.-128-51G>A (n.-128-51G>A) | |
X | g.154031338T>A | CA415174311 | MECP2 | c.490A>T (p.Ser164Cys) c.526A>T (p.Ser176Cys) c.65+58A>T c.469-52A>T (n.469-52A>T) n.2838A>T c.476A>T (p.Glu159Val) c.478A>T (p.Ser160Cys) c.433-52A>T (n.433-52A>T) c.211A>T (p.Ser71Cys) c.-128-52A>T (n.-128-52A>T) | |
X | g.154031338T>C | CA415174319 | MECP2 | c.490A>G (p.Ser164Gly) c.526A>G (p.Ser176Gly) c.65+58A>G c.469-52A>G (n.469-52A>G) n.2838A>G c.476A>G (p.Glu159Gly) c.478A>G (p.Ser160Gly) c.433-52A>G (n.433-52A>G) c.211A>G (p.Ser71Gly) c.-128-52A>G (n.-128-52A>G) | |
X | g.154031338T>G | CA415174315 | MECP2 | c.490A>C (p.Ser164Arg) c.526A>C (p.Ser176Arg) c.65+58A>C c.469-52A>C (n.469-52A>C) n.2838A>C c.476A>C (p.Glu159Ala) c.478A>C (p.Ser160Arg) c.433-52A>C (n.433-52A>C) c.211A>C (p.Ser71Arg) c.-128-52A>C (n.-128-52A>C) | |
X | g.154031338_154031340delinsTCC | CA2466570975 | MECP2 | c.488_490delinsGGA (p.Gly163=) c.524_526delinsGGA (p.Gly175=) c.65+56_65+58delinsGGA c.469-54_469-52delinsGGA (n.469-54_469-52delinsGGA) n.2836_2838delinsGGA c.474_476delinsGGA (p.Arg158=) c.476_478delinsGGA (p.Gly159=) c.433-54_433-52delinsGGA (n.433-54_433-52delinsGGA) c.209_211delinsGGA (p.Gly70=) c.-128-54_-128-52delinsGGA (n.-128-54_-128-52delinsGGA) | |
X | g.154031339C>A | CA415174326 | MECP2 | c.489G>T (p.Gly163=) c.525G>T (p.Gly175=) c.65+57G>T c.469-53G>T (n.469-53G>T) n.2837G>T c.475G>T (p.Glu159Ter) c.477G>T (p.Gly159=) c.433-53G>T (n.433-53G>T) c.210G>T (p.Gly70=) c.-128-53G>T (n.-128-53G>T) | dbSNP |
X | g.154031339C= | CA2466570976 | MECP2 | c.489G= (p.Gly163=) c.525G= (p.Gly175=) c.65+57G= c.469-53G= (n.469-53G=) n.2837G= c.475G= (p.Glu159=) c.477G= (p.Gly159=) c.433-53G= (n.433-53G=) c.210G= (p.Gly70=) c.-128-53G= (n.-128-53G=) | |
X | g.154031339C>G | CA415174329 | MECP2 | c.489G>C (p.Gly163=) c.525G>C (p.Gly175=) c.65+57G>C c.469-53G>C (n.469-53G>C) n.2837G>C c.475G>C (p.Glu159Gln) c.477G>C (p.Gly159=) c.433-53G>C (n.433-53G>C) c.210G>C (p.Gly70=) c.-128-53G>C (n.-128-53G>C) | ClinVar |
X | g.154031339C>T | CA415174331 | MECP2 | c.489G>A (p.Gly163=) c.525G>A (p.Gly175=) c.65+57G>A c.469-53G>A (n.469-53G>A) n.2837G>A c.475G>A (p.Glu159Lys) c.477G>A (p.Gly159=) c.433-53G>A (n.433-53G>A) c.210G>A (p.Gly70=) c.-128-53G>A (n.-128-53G>A) | ClinVar |
X | g.154031340_154031341del | CA270453 | MECP2 | c.488_489del (p.Gly163GlufsTer11) c.524_525del (p.Gly175GlufsTer11) c.65+56_65+57del c.469-54_469-53del (n.469-54_469-53del) n.2836_2837del c.474_475del (p.Glu159AlafsTer?) c.476_477del (p.Gly159GlufsTer11) c.433-54_433-53del (n.433-54_433-53del) c.209_210del (p.Gly70GlufsTer11) c.-128-54_-128-53del (n.-128-54_-128-53del) | ClinVar dbSNP |
X | g.154031340C>A | CA415174349 | MECP2 | c.488G>T (p.Gly163Val) c.524G>T (p.Gly175Val) c.65+56G>T c.469-54G>T (n.469-54G>T) n.2836G>T c.474G>T (p.Arg158Ser) c.476G>T (p.Gly159Val) c.433-54G>T (n.433-54G>T) c.209G>T (p.Gly70Val) c.-128-54G>T (n.-128-54G>T) | |
X | g.154031340C>G | CA415174355 | MECP2 | c.488G>C (p.Gly163Ala) c.524G>C (p.Gly175Ala) c.65+56G>C c.469-54G>C (n.469-54G>C) n.2836G>C c.474G>C (p.Arg158Ser) c.476G>C (p.Gly159Ala) c.433-54G>C (n.433-54G>C) c.209G>C (p.Gly70Ala) c.-128-54G>C (n.-128-54G>C) | |
X | g.154031340C>T | CA415174357 | MECP2 | c.488G>A (p.Gly163Glu) c.524G>A (p.Gly175Glu) c.65+56G>A c.469-54G>A (n.469-54G>A) n.2836G>A c.474G>A (p.Arg158=) c.476G>A (p.Gly159Glu) c.433-54G>A (n.433-54G>A) c.209G>A (p.Gly70Glu) c.-128-54G>A (n.-128-54G>A) | |
X | g.154031341C>A | CA415174358 | MECP2 | c.487G>T (p.Gly163Trp) c.523G>T (p.Gly175Trp) c.65+55G>T c.469-55G>T (n.469-55G>T) n.2835G>T c.473G>T (p.Arg158Met) c.475G>T (p.Gly159Trp) c.433-55G>T (n.433-55G>T) c.208G>T (p.Gly70Trp) c.-128-55G>T (n.-128-55G>T) | ClinVar dbSNP |
X | g.154031341C= | CA2466570977 | MECP2 | c.487G= (p.Gly163=) c.523G= (p.Gly175=) c.65+55G= c.469-55G= (n.469-55G=) n.2835G= c.473G= (p.Arg158=) c.475G= (p.Gly159=) c.433-55G= (n.433-55G=) c.208G= (p.Gly70=) c.-128-55G= (n.-128-55G=) | |
X | g.154031341C>G | CA415174360 | MECP2 | c.487G>C (p.Gly163Arg) c.523G>C (p.Gly175Arg) c.65+55G>C c.469-55G>C (n.469-55G>C) n.2835G>C c.473G>C (p.Arg158Thr) c.475G>C (p.Gly159Arg) c.433-55G>C (n.433-55G>C) c.208G>C (p.Gly70Arg) c.-128-55G>C (n.-128-55G>C) | gnomAD v4 |
X | g.154031341C>T | CA415174362 | MECP2 | c.487G>A (p.Gly163Arg) c.523G>A (p.Gly175Arg) c.65+55G>A c.469-55G>A (n.469-55G>A) n.2835G>A c.473G>A (p.Arg158Lys) c.475G>A (p.Gly159Arg) c.433-55G>A (n.433-55G>A) c.208G>A (p.Gly70Arg) c.-128-55G>A (n.-128-55G>A) | gnomAD v3 gnomAD v4 |
X | g.154031342T>A | CA415174365 | MECP2 | c.486A>T (p.Arg162Ser) c.522A>T (p.Arg174Ser) c.65+54A>T c.468+54A>T (n.468+54A>T) n.2834A>T c.472A>T (p.Arg158Trp) c.474A>T (p.Arg158Ser) c.432+54A>T (n.432+54A>T) c.207A>T (p.Arg69Ser) c.-129+54A>T (n.-129+54A>T) | |
X | g.154031342T>C | CA415174372 | MECP2 | c.486A>G (p.Arg162=) c.522A>G (p.Arg174=) c.65+54A>G c.468+54A>G (n.468+54A>G) n.2834A>G c.472A>G (p.Arg158Gly) c.474A>G (p.Arg158=) c.432+54A>G (n.432+54A>G) c.207A>G (p.Arg69=) c.-129+54A>G (n.-129+54A>G) | |
X | g.154031342T>G | CA415174367 | MECP2 | c.486A>C (p.Arg162Ser) c.522A>C (p.Arg174Ser) c.65+54A>C c.468+54A>C (n.468+54A>C) n.2834A>C c.472A>C (p.Arg158=) c.474A>C (p.Arg158Ser) c.432+54A>C (n.432+54A>C) c.207A>C (p.Arg69Ser) c.-129+54A>C (n.-129+54A>C) | |
X | g.154031343C>A | CA415174378 | MECP2 | c.485G>T (p.Arg162Ile) c.521G>T (p.Arg174Ile) c.65+53G>T c.468+53G>T (n.468+53G>T) n.2833G>T c.472-1G>T (n.472-1G>T) c.473G>T (p.Arg158Ile) c.432+53G>T (n.432+53G>T) c.206G>T (p.Arg69Ile) c.-129+53G>T (n.-129+53G>T) | |
X | g.154031343C= | CA2466570978 | MECP2 | c.485G= (p.Arg162=) c.521G= (p.Arg174=) c.65+53G= c.468+53G= (n.468+53G=) n.2833G= c.472-1G= (n.472-1G=) c.473G= (p.Arg158=) c.432+53G= (n.432+53G=) c.206G= (p.Arg69=) c.-129+53G= (n.-129+53G=) | |
X | g.154031343C>G | CA415174379 | MECP2 | c.485G>C (p.Arg162Thr) c.521G>C (p.Arg174Thr) c.65+53G>C c.468+53G>C (n.468+53G>C) n.2833G>C c.472-1G>C (n.472-1G>C) c.473G>C (p.Arg158Thr) c.432+53G>C (n.432+53G>C) c.206G>C (p.Arg69Thr) c.-129+53G>C (n.-129+53G>C) | |
X | g.154031343C>T | CA415174381 | MECP2 | c.485G>A (p.Arg162Lys) c.521G>A (p.Arg174Lys) c.65+53G>A c.468+53G>A (n.468+53G>A) n.2833G>A c.472-1G>A (n.472-1G>A) c.473G>A (p.Arg158Lys) c.432+53G>A (n.432+53G>A) c.206G>A (p.Arg69Lys) c.-129+53G>A (n.-129+53G>A) | |
X | g.154031344_154031346del | CA2579736360 | MECP2 | c.483_485del (p.Arg162del) c.519_521del (p.Arg174del) c.65+51_65+53del c.468+51_468+53del (n.468+51_468+53del) n.2831_2833del c.471_472-1del c.471_473del (p.Arg158del) c.432+51_432+53del (n.432+51_432+53del) c.204_206del (p.Arg69del) c.-129+51_-129+53del (n.-129+51_-129+53del) | |
X | g.154031344T>A | CA415174386 | MECP2 | c.484A>T (p.Arg162Ter) c.520A>T (p.Arg174Ter) c.65+52A>T c.468+52A>T (n.468+52A>T) n.2832A>T c.472-2A>T (n.472-2A>T) c.472A>T (p.Arg158Ter) c.432+52A>T (n.432+52A>T) c.205A>T (p.Arg69Ter) c.-129+52A>T (n.-129+52A>T) | |
X | g.154031344T>C | CA273728 | MECP2 | c.484A>G (p.Arg162Gly) c.520A>G (p.Arg174Gly) c.65+52A>G c.468+52A>G (n.468+52A>G) n.2832A>G c.472-2A>G (n.472-2A>G) c.472A>G (p.Arg158Gly) c.432+52A>G (n.432+52A>G) c.205A>G (p.Arg69Gly) c.-129+52A>G (n.-129+52A>G) | ClinVar dbSNP |
X | g.154031344T>G | CA415174393 | MECP2 | c.484A>C (p.Arg162=) c.520A>C (p.Arg174=) c.65+52A>C c.468+52A>C (n.468+52A>C) n.2832A>C c.472-2A>C (n.472-2A>C) c.472A>C (p.Arg158=) c.432+52A>C (n.432+52A>C) c.205A>C (p.Arg69=) c.-129+52A>C (n.-129+52A>C) | |
X | g.154031344T= | CA2466570980 | MECP2 | c.484A= (p.Arg162=) c.520A= (p.Arg174=) c.65+52A= c.468+52A= (n.468+52A=) n.2832A= c.472-2A= (n.472-2A=) c.472A= (p.Arg158=) c.432+52A= (n.432+52A=) c.205A= (p.Arg69=) c.-129+52A= (n.-129+52A=) | |
X | g.154031344dup | CA270452 | MECP2 | c.484dup (p.Arg162LysfsTer13) c.520dup (p.Arg174LysfsTer13) c.65+52dup c.468+52dup (n.468+52dup) n.2832dup c.472-2dup (n.472-2dup) c.472dup (p.Arg158LysfsTer13) c.432+52dup (n.432+52dup) c.205dup (p.Arg69LysfsTer13) c.-129+52dup (n.-129+52dup) | ClinVar dbSNP |
X | g.154031344_154031345delinsTC | CA2466570979 | MECP2 | c.483_484delinsGA (p.Gly161=) c.519_520delinsGA (p.Gly173=) c.65+51_65+52delinsGA c.468+51_468+52delinsGA (n.468+51_468+52delinsGA) n.2831_2832delinsGA c.471_472-2delinsGA c.471_472delinsGA (p.Gly157=) c.432+51_432+52delinsGA (n.432+51_432+52delinsGA) c.204_205delinsGA (p.Gly68=) c.-129+51_-129+52delinsGA (n.-129+51_-129+52delinsGA) | |
X | g.154031345C>A | CA519705585 | MECP2 | c.483G>T (p.Gly161=) c.519G>T (p.Gly173=) c.65+51G>T c.468+51G>T (n.468+51G>T) n.2831G>T c.471G>T (p.Gly157=) c.432+51G>T (n.432+51G>T) c.204G>T (p.Gly68=) c.-129+51G>T (n.-129+51G>T) | gnomAD v4 |
X | g.154031345C>G | CA519705588 | MECP2 | c.483G>C (p.Gly161=) c.519G>C (p.Gly173=) c.65+51G>C c.468+51G>C (n.468+51G>C) n.2831G>C c.471G>C (p.Gly157=) c.432+51G>C (n.432+51G>C) c.204G>C (p.Gly68=) c.-129+51G>C (n.-129+51G>C) | |
X | g.154031345C>T | CA519705591 | MECP2 | c.483G>A (p.Gly161=) c.519G>A (p.Gly173=) c.65+51G>A c.468+51G>A (n.468+51G>A) n.2831G>A c.471G>A (p.Gly157=) c.432+51G>A (n.432+51G>A) c.204G>A (p.Gly68=) c.-129+51G>A (n.-129+51G>A) | |
X | g.154031347del | CA270451 | MECP2 | c.483del (p.Arg162GlufsTer?) c.519del (p.Arg174GlufsTer?) c.65+51del c.468+51del (n.468+51del) n.2831del c.471del (p.Arg158GlyfsTer?) c.471del (p.Arg158GlufsTer?) c.432+51del (n.432+51del) c.204del (p.Arg69GlufsTer?) c.-129+51del (n.-129+51del) | ClinVar dbSNP |
X | g.154031346C>A | CA270449 | MECP2 | c.482G>T (p.Gly161Val) c.518G>T (p.Gly173Val) c.65+50G>T c.468+50G>T (n.468+50G>T) n.2830G>T c.470G>T (p.Gly157Val) c.432+50G>T (n.432+50G>T) c.203G>T (p.Gly68Val) c.-129+50G>T (n.-129+50G>T) | ClinVar dbSNP |
X | g.154031346C= | CA2466570982 | MECP2 | c.482G= (p.Gly161=) c.518G= (p.Gly173=) c.65+50G= c.468+50G= (n.468+50G=) n.2830G= c.470G= (p.Gly157=) c.432+50G= (n.432+50G=) c.203G= (p.Gly68=) c.-129+50G= (n.-129+50G=) | |
X | g.154031346C>G | CA415174415 | MECP2 | c.482G>C (p.Gly161Ala) c.518G>C (p.Gly173Ala) c.65+50G>C c.468+50G>C (n.468+50G>C) n.2830G>C c.470G>C (p.Gly157Ala) c.432+50G>C (n.432+50G>C) c.203G>C (p.Gly68Ala) c.-129+50G>C (n.-129+50G>C) | |
X | g.154031346C>T | CA270446 | MECP2 | c.482G>A (p.Gly161Glu) c.518G>A (p.Gly173Glu) c.65+50G>A c.468+50G>A (n.468+50G>A) n.2830G>A c.470G>A (p.Gly157Glu) c.432+50G>A (n.432+50G>A) c.203G>A (p.Gly68Glu) c.-129+50G>A (n.-129+50G>A) | ClinVar dbSNP |
X | g.154031346_154031348delinsCCA | CA2466570981 | MECP2 | c.480_482delinsTGG (p.Thr160=) c.516_518delinsTGG (p.Thr172=) c.65+48_65+50delinsTGG c.468+48_468+50delinsTGG (n.468+48_468+50delinsTGG) n.2828_2830delinsTGG c.468_470delinsTGG (p.Thr156=) c.432+48_432+50delinsTGG (n.432+48_432+50delinsTGG) c.201_203delinsTGG (p.Thr67=) c.-129+48_-129+50delinsTGG (n.-129+48_-129+50delinsTGG) | |
X | g.154031347C>A | CA270443 | MECP2 | c.481G>T (p.Gly161Trp) c.517G>T (p.Gly173Trp) c.65+49G>T c.468+49G>T (n.468+49G>T) n.2829G>T c.469G>T (p.Gly157Trp) c.432+49G>T (n.432+49G>T) c.202G>T (p.Gly68Trp) c.-129+49G>T (n.-129+49G>T) | ClinVar dbSNP |
X | g.154031347C= | CA2466570984 | MECP2 | c.481G= (p.Gly161=) c.517G= (p.Gly173=) c.65+49G= c.468+49G= (n.468+49G=) n.2829G= c.469G= (p.Gly157=) c.432+49G= (n.432+49G=) c.202G= (p.Gly68=) c.-129+49G= (n.-129+49G=) | |
X | g.154031347C>G | CA415174423 | MECP2 | c.481G>C (p.Gly161Arg) c.517G>C (p.Gly173Arg) c.65+49G>C c.468+49G>C (n.468+49G>C) n.2829G>C c.469G>C (p.Gly157Arg) c.432+49G>C (n.432+49G>C) c.202G>C (p.Gly68Arg) c.-129+49G>C (n.-129+49G>C) | |
X | g.154031347C>T | CA415174425 | MECP2 | c.481G>A (p.Gly161Arg) c.517G>A (p.Gly173Arg) c.65+49G>A c.468+49G>A (n.468+49G>A) n.2829G>A c.469G>A (p.Gly157Arg) c.432+49G>A (n.432+49G>A) c.202G>A (p.Gly68Arg) c.-129+49G>A (n.-129+49G>A) | |
X | g.154031347_154031348del | CA270441 | MECP2 | c.480_481del (p.Gly161GlufsTer13) c.516_517del (p.Gly173GlufsTer13) c.65+48_65+49del c.468+48_468+49del (n.468+48_468+49del) n.2828_2829del c.468_469del (p.Gly157GlufsTer?) c.468_469del (p.Gly157GlufsTer13) c.432+48_432+49del (n.432+48_432+49del) c.201_202del (p.Gly68GlufsTer13) c.-129+48_-129+49del (n.-129+48_-129+49del) | ClinVar dbSNP |
X | g.154031347_154031348delinsCA | CA2466570983 | MECP2 | c.480_481delinsTG (p.Thr160=) c.516_517delinsTG (p.Thr172=) c.65+48_65+49delinsTG c.468+48_468+49delinsTG (n.468+48_468+49delinsTG) n.2828_2829delinsTG c.468_469delinsTG (p.Thr156=) c.432+48_432+49delinsTG (n.432+48_432+49delinsTG) c.201_202delinsTG (p.Thr67=) c.-129+48_-129+49delinsTG (n.-129+48_-129+49delinsTG) | |
X | g.154031347_154035447del | CA891863116 | MECP2 | c.27-2890_481del c.63-2890_517del c.63-2890_468+49del n.2375-2890_2829del c.15-2890_469del c.27-2890_432+49del c.-253-2890_202del c.-534-2890_-129+49del | ClinVar |
X | g.154031348del | CA270442 | MECP2 | c.480del (p.Arg162GlufsTer?) c.516del (p.Arg174GlufsTer?) c.65+48del c.468+48del (n.468+48del) n.2828del c.468del (p.Arg158GlyfsTer?) c.468del (p.Arg158GlufsTer?) c.432+48del (n.432+48del) c.201del (p.Arg69GlufsTer?) c.-129+48del (n.-129+48del) | ClinVar dbSNP |
X | g.154031348A>C | CA519705596 | MECP2 | c.480T>G (p.Thr160=) c.516T>G (p.Thr172=) c.65+48T>G c.468+48T>G (n.468+48T>G) n.2828T>G c.468T>G (p.Thr156=) c.432+48T>G (n.432+48T>G) c.201T>G (p.Thr67=) c.-129+48T>G (n.-129+48T>G) | |
X | g.154031348A>G | CA519705598 | MECP2 | c.480T>C (p.Thr160=) c.516T>C (p.Thr172=) c.65+48T>C c.468+48T>C (n.468+48T>C) n.2828T>C c.468T>C (p.Thr156=) c.432+48T>C (n.432+48T>C) c.201T>C (p.Thr67=) c.-129+48T>C (n.-129+48T>C) | |
X | g.154031348A>T | CA519705599 | MECP2 | c.480T>A (p.Thr160=) c.516T>A (p.Thr172=) c.65+48T>A c.468+48T>A (n.468+48T>A) n.2828T>A c.468T>A (p.Thr156=) c.432+48T>A (n.432+48T>A) c.201T>A (p.Thr67=) c.-129+48T>A (n.-129+48T>A) | |
X | g.154031349G>A | CA415174433 | MECP2 | c.479C>T (p.Thr160Ile) c.515C>T (p.Thr172Ile) c.65+47C>T c.468+47C>T (n.468+47C>T) n.2827C>T c.467C>T (p.Thr156Ile) c.432+47C>T (n.432+47C>T) c.200C>T (p.Thr67Ile) c.-129+47C>T (n.-129+47C>T) | gnomAD v4 |
X | g.154031349G>C | CA170305 | MECP2 | c.479C>G (p.Thr160Ser) c.515C>G (p.Thr172Ser) c.65+47C>G c.468+47C>G (n.468+47C>G) n.2827C>G c.467C>G (p.Thr156Ser) c.432+47C>G (n.432+47C>G) c.200C>G (p.Thr67Ser) c.-129+47C>G (n.-129+47C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154031349G= | CA2466570985 | MECP2 | c.479C= (p.Thr160=) c.515C= (p.Thr172=) c.65+47C= c.468+47C= (n.468+47C=) n.2827C= c.467C= (p.Thr156=) c.432+47C= (n.432+47C=) c.200C= (p.Thr67=) c.-129+47C= (n.-129+47C=) | |
X | g.154031349G>T | CA415174434 | MECP2 | c.479C>A (p.Thr160Asn) c.515C>A (p.Thr172Asn) c.65+47C>A c.468+47C>A (n.468+47C>A) n.2827C>A c.467C>A (p.Thr156Asn) c.432+47C>A (n.432+47C>A) c.200C>A (p.Thr67Asn) c.-129+47C>A (n.-129+47C>A) | ClinVar |
X | g.154031350T>A | CA415174438 | MECP2 | c.478A>T (p.Thr160Ser) c.514A>T (p.Thr172Ser) c.65+46A>T c.468+46A>T (n.468+46A>T) n.2826A>T c.466A>T (p.Thr156Ser) c.432+46A>T (n.432+46A>T) c.199A>T (p.Thr67Ser) c.-129+46A>T (n.-129+46A>T) | |
X | g.154031350T>C | CA415174442 | MECP2 | c.478A>G (p.Thr160Ala) c.514A>G (p.Thr172Ala) c.65+46A>G c.468+46A>G (n.468+46A>G) n.2826A>G c.466A>G (p.Thr156Ala) c.432+46A>G (n.432+46A>G) c.199A>G (p.Thr67Ala) c.-129+46A>G (n.-129+46A>G) | |
X | g.154031350T>G | CA415174444 | MECP2 | c.478A>C (p.Thr160Pro) c.514A>C (p.Thr172Pro) c.65+46A>C c.468+46A>C (n.468+46A>C) n.2826A>C c.466A>C (p.Thr156Pro) c.432+46A>C (n.432+46A>C) c.199A>C (p.Thr67Pro) c.-129+46A>C (n.-129+46A>C) | |
X | g.154031351dup | CA2695202118 | MECP2 | c.478dup (p.Thr160AsnfsTer15) c.514dup (p.Thr172AsnfsTer15) c.65+46dup c.468+46dup (n.468+46dup) n.2826dup c.466dup (p.Thr156AsnfsTer?) c.466dup (p.Thr156AsnfsTer15) c.432+46dup (n.432+46dup) c.199dup (p.Thr67AsnfsTer15) c.-129+46dup (n.-129+46dup) | ClinVar |
X | g.154031351T>A | CA519705604 | MECP2 | c.477A>T (p.Val159=) c.513A>T (p.Val171=) c.65+45A>T c.468+45A>T (n.468+45A>T) n.2825A>T c.465A>T (p.Val155=) c.432+45A>T (n.432+45A>T) c.198A>T (p.Val66=) c.-129+45A>T (n.-129+45A>T) | |
X | g.154031351T>C | CA519705605 | MECP2 | c.477A>G (p.Val159=) c.513A>G (p.Val171=) c.65+45A>G c.468+45A>G (n.468+45A>G) n.2825A>G c.465A>G (p.Val155=) c.432+45A>G (n.432+45A>G) c.198A>G (p.Val66=) c.-129+45A>G (n.-129+45A>G) | |
X | g.154031351T>G | CA519705606 | MECP2 | c.477A>C (p.Val159=) c.513A>C (p.Val171=) c.65+45A>C c.468+45A>C (n.468+45A>C) n.2825A>C c.465A>C (p.Val155=) c.432+45A>C (n.432+45A>C) c.198A>C (p.Val66=) c.-129+45A>C (n.-129+45A>C) | gnomAD v4 |
X | g.154031352A>C | CA415174457 | MECP2 | c.476T>G (p.Val159Gly) c.512T>G (p.Val171Gly) c.65+44T>G c.468+44T>G (n.468+44T>G) n.2824T>G c.464T>G (p.Val155Gly) c.432+44T>G (n.432+44T>G) c.197T>G (p.Val66Gly) c.-129+44T>G (n.-129+44T>G) | |
X | g.154031352A>G | CA415174448 | MECP2 | c.476T>C (p.Val159Ala) c.512T>C (p.Val171Ala) c.65+44T>C c.468+44T>C (n.468+44T>C) n.2824T>C c.464T>C (p.Val155Ala) c.432+44T>C (n.432+44T>C) c.197T>C (p.Val66Ala) c.-129+44T>C (n.-129+44T>C) | |
X | g.154031352A>T | CA415174452 | MECP2 | c.476T>A (p.Val159Glu) c.512T>A (p.Val171Glu) c.65+44T>A c.468+44T>A (n.468+44T>A) n.2824T>A c.464T>A (p.Val155Glu) c.432+44T>A (n.432+44T>A) c.197T>A (p.Val66Glu) c.-129+44T>A (n.-129+44T>A) | |
X | g.154031352_154031353delinsAC | CA2466570986 | MECP2 | c.475_476delinsGT (p.Val159=) c.511_512delinsGT (p.Val171=) c.65+43_65+44delinsGT c.468+43_468+44delinsGT (n.468+43_468+44delinsGT) n.2823_2824delinsGT c.463_464delinsGT (p.Val155=) c.432+43_432+44delinsGT (n.432+43_432+44delinsGT) c.196_197delinsGT (p.Val66=) c.-129+43_-129+44delinsGT (n.-129+43_-129+44delinsGT) | |
X | g.154031353C>A | CA415174469 | MECP2 | c.475G>T (p.Val159Leu) c.511G>T (p.Val171Leu) c.65+43G>T c.468+43G>T (n.468+43G>T) n.2823G>T c.463G>T (p.Val155Leu) c.432+43G>T (n.432+43G>T) c.196G>T (p.Val66Leu) c.-129+43G>T (n.-129+43G>T) | |
X | g.154031353C>G | CA415174473 | MECP2 | c.475G>C (p.Val159Leu) c.511G>C (p.Val171Leu) c.65+43G>C c.468+43G>C (n.468+43G>C) n.2823G>C c.463G>C (p.Val155Leu) c.432+43G>C (n.432+43G>C) c.196G>C (p.Val66Leu) c.-129+43G>C (n.-129+43G>C) | |
X | g.154031353C>T | CA415174475 | MECP2 | c.475G>A (p.Val159Ile) c.511G>A (p.Val171Ile) c.65+43G>A c.468+43G>A (n.468+43G>A) n.2823G>A c.463G>A (p.Val155Ile) c.432+43G>A (n.432+43G>A) c.196G>A (p.Val66Ile) c.-129+43G>A (n.-129+43G>A) | COSMIC |
X | g.154031354del | CA270440 | MECP2 | c.475del (p.Val159Ter) c.511del (p.Val171Ter) c.65+43del c.468+43del (n.468+43del) n.2823del c.463del (p.Val155Ter) c.432+43del (n.432+43del) c.196del (p.Val66Ter) c.-129+43del (n.-129+43del) | ClinVar dbSNP |
X | g.154031354C>A | CA519705610 | MECP2 | c.474G>T (p.Thr158=) c.510G>T (p.Thr170=) c.65+42G>T c.468+42G>T (n.468+42G>T) n.2822G>T c.462G>T (p.Thr154=) c.432+42G>T (n.432+42G>T) c.195G>T (p.Thr65=) c.-129+42G>T (n.-129+42G>T) | ClinVar gnomAD v4 |
X | g.154031354C= | CA2466570987 | MECP2 | c.474G= (p.Thr158=) c.510G= (p.Thr170=) c.65+42G= c.468+42G= (n.468+42G=) n.2822G= c.462G= (p.Thr154=) c.432+42G= (n.432+42G=) c.195G= (p.Thr65=) c.-129+42G= (n.-129+42G=) | |
X | g.154031354C>G | CA519705613 | MECP2 | c.474G>C (p.Thr158=) c.510G>C (p.Thr170=) c.65+42G>C c.468+42G>C (n.468+42G>C) n.2822G>C c.462G>C (p.Thr154=) c.432+42G>C (n.432+42G>C) c.195G>C (p.Thr65=) c.-129+42G>C (n.-129+42G>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154031354C>T | CA170302 | MECP2 | c.474G>A (p.Thr158=) c.510G>A (p.Thr170=) c.65+42G>A c.468+42G>A (n.468+42G>A) n.2822G>A c.462G>A (p.Thr154=) c.432+42G>A (n.432+42G>A) c.195G>A (p.Thr65=) c.-129+42G>A (n.-129+42G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154031355G>A | CA211252 | MECP2 | c.473C>T (p.Thr158Met) c.509C>T (p.Thr170Met) c.65+41C>T c.468+41C>T (n.468+41C>T) n.2821C>T c.461C>T (p.Thr154Met) c.432+41C>T (n.432+41C>T) c.194C>T (p.Thr65Met) c.-129+41C>T (n.-129+41C>T) | ClinVar dbSNP COSMIC |
X | g.154031355G>C | CA415174482 | MECP2 | c.473C>G (p.Thr158Arg) c.509C>G (p.Thr170Arg) c.65+41C>G c.468+41C>G (n.468+41C>G) n.2821C>G c.461C>G (p.Thr154Arg) c.432+41C>G (n.432+41C>G) c.194C>G (p.Thr65Arg) c.-129+41C>G (n.-129+41C>G) | ClinVar |
X | g.154031355G= | CA2466570988 | MECP2 | c.473C= (p.Thr158=) c.509C= (p.Thr170=) c.65+41C= c.468+41C= (n.468+41C=) n.2821C= c.461C= (p.Thr154=) c.432+41C= (n.432+41C=) c.194C= (p.Thr65=) c.-129+41C= (n.-129+41C=) | |
X | g.154031355G>T | CA415174497 | MECP2 | c.473C>A (p.Thr158Lys) c.509C>A (p.Thr170Lys) c.65+41C>A c.468+41C>A (n.468+41C>A) n.2821C>A c.461C>A (p.Thr154Lys) c.432+41C>A (n.432+41C>A) c.194C>A (p.Thr65Lys) c.-129+41C>A (n.-129+41C>A) | ClinVar dbSNP |
X | g.154031356T>A | CA415174502 | MECP2 | c.472A>T (p.Thr158Ser) c.508A>T (p.Thr170Ser) c.65+40A>T c.468+40A>T (n.468+40A>T) n.2820A>T c.460A>T (p.Thr154Ser) c.432+40A>T (n.432+40A>T) c.193A>T (p.Thr65Ser) c.-129+40A>T (n.-129+40A>T) | |
X | g.154031356T>C | CA270438 | MECP2 | c.472A>G (p.Thr158Ala) c.508A>G (p.Thr170Ala) c.65+40A>G c.468+40A>G (n.468+40A>G) n.2820A>G c.460A>G (p.Thr154Ala) c.432+40A>G (n.432+40A>G) c.193A>G (p.Thr65Ala) c.-129+40A>G (n.-129+40A>G) | ClinVar dbSNP |
X | g.154031356T>G | CA415174508 | MECP2 | c.472A>C (p.Thr158Pro) c.508A>C (p.Thr170Pro) c.65+40A>C c.468+40A>C (n.468+40A>C) n.2820A>C c.460A>C (p.Thr154Pro) c.432+40A>C (n.432+40A>C) c.193A>C (p.Thr65Pro) c.-129+40A>C (n.-129+40A>C) | |
X | g.154031356T= | CA2466570989 | MECP2 | c.472A= (p.Thr158=) c.508A= (p.Thr170=) c.65+40A= c.468+40A= (n.468+40A=) n.2820A= c.460A= (p.Thr154=) c.432+40A= (n.432+40A=) c.193A= (p.Thr65=) c.-129+40A= (n.-129+40A=) | |
X | g.154031356_154031358delinsTGA | CA2466570990 | MECP2 | c.470_472delinsTCA (p.Phe157=) c.506_508delinsTCA (p.Phe169=) c.65+38_65+40delinsTCA c.468+38_468+40delinsTCA (n.468+38_468+40delinsTCA) n.2818_2820delinsTCA c.458_460delinsTCA (p.Phe153=) c.432+38_432+40delinsTCA (n.432+38_432+40delinsTCA) c.191_193delinsTCA (p.Phe64=) c.-129+38_-129+40delinsTCA (n.-129+38_-129+40delinsTCA) | |
X | g.154031357G>A | CA519705617 | MECP2 | c.471C>T (p.Phe157=) c.507C>T (p.Phe169=) c.65+39C>T c.468+39C>T (n.468+39C>T) n.2819C>T c.459C>T (p.Phe153=) c.432+39C>T (n.432+39C>T) c.192C>T (p.Phe64=) c.-129+39C>T (n.-129+39C>T) | |
X | g.154031357G>C | CA270435 | MECP2 | c.471C>G (p.Phe157Leu) c.507C>G (p.Phe169Leu) c.65+39C>G c.468+39C>G (n.468+39C>G) n.2819C>G c.459C>G (p.Phe153Leu) c.432+39C>G (n.432+39C>G) c.192C>G (p.Phe64Leu) c.-129+39C>G (n.-129+39C>G) | ClinVar dbSNP |
X | g.154031357G= | CA2466570991 | MECP2 | c.471C= (p.Phe157=) c.507C= (p.Phe169=) c.65+39C= c.468+39C= (n.468+39C=) n.2819C= c.459C= (p.Phe153=) c.432+39C= (n.432+39C=) c.192C= (p.Phe64=) c.-129+39C= (n.-129+39C=) | |
X | g.154031357G>T | CA415174547 | MECP2 | c.471C>A (p.Phe157Leu) c.507C>A (p.Phe169Leu) c.65+39C>A c.468+39C>A (n.468+39C>A) n.2819C>A c.459C>A (p.Phe153Leu) c.432+39C>A (n.432+39C>A) c.192C>A (p.Phe64Leu) c.-129+39C>A (n.-129+39C>A) | ClinVar dbSNP |
X | g.154031357_154031358del | CA270433 | MECP2 | c.470_471del (p.Phe157TyrfsTer17) c.506_507del (p.Phe169TyrfsTer17) c.65+38_65+39del c.468+38_468+39del (n.468+38_468+39del) n.2818_2819del c.458_459del (p.Phe153TyrfsTer?) c.458_459del (p.Phe153TyrfsTer17) c.432+38_432+39del (n.432+38_432+39del) c.191_192del (p.Phe64TyrfsTer17) c.-129+38_-129+39del (n.-129+38_-129+39del) | ClinVar dbSNP |
X | g.154031358A>C | CA415174551 | MECP2 | c.470T>G (p.Phe157Cys) c.506T>G (p.Phe169Cys) c.65+38T>G c.468+38T>G (n.468+38T>G) n.2818T>G c.458T>G (p.Phe153Cys) c.432+38T>G (n.432+38T>G) c.191T>G (p.Phe64Cys) c.-129+38T>G (n.-129+38T>G) | ClinVar |
X | g.154031358A>G | CA415174553 | MECP2 | c.470T>C (p.Phe157Ser) c.506T>C (p.Phe169Ser) c.65+38T>C c.468+38T>C (n.468+38T>C) n.2818T>C c.458T>C (p.Phe153Ser) c.432+38T>C (n.432+38T>C) c.191T>C (p.Phe64Ser) c.-129+38T>C (n.-129+38T>C) | |
X | g.154031358A>T | CA415174558 | MECP2 | c.470T>A (p.Phe157Tyr) c.506T>A (p.Phe169Tyr) c.65+38T>A c.468+38T>A (n.468+38T>A) n.2818T>A c.458T>A (p.Phe153Tyr) c.432+38T>A (n.432+38T>A) c.191T>A (p.Phe64Tyr) c.-129+38T>A (n.-129+38T>A) | |
X | g.154031359dup | CA270434 | MECP2 | c.470dup (p.Thr158HisfsTer17) c.506dup (p.Thr170HisfsTer17) c.65+38dup c.468+38dup (n.468+38dup) n.2818dup c.458dup (p.Thr154HisfsTer?) c.458dup (p.Thr154HisfsTer17) c.432+38dup (n.432+38dup) c.191dup (p.Thr65HisfsTer17) c.-129+38dup (n.-129+38dup) | ClinVar dbSNP |
X | g.154031360_154031364del | CA2695237610 | MECP2 | c.466_470del (p.Asp156HisfsTer17) c.502_506del (p.Asp168HisfsTer17) c.65+34_65+38del c.468+34_468+38del (n.468+34_468+38del) n.2814_2818del c.454_458del (p.Asp152HisfsTer?) c.454_458del (p.Asp152HisfsTer17) c.432+34_432+38del (n.432+34_432+38del) c.187_191del (p.Asp63HisfsTer17) c.-129+34_-129+38del (n.-129+34_-129+38del) | |
X | g.154031359A= | CA2466570992 | MECP2 | c.469T= (p.Phe157=) c.505T= (p.Phe169=) c.65+37T= c.468+37T= (n.468+37T=) n.2817T= c.457T= (p.Phe153=) c.432+37T= (n.432+37T=) c.190T= (p.Phe64=) c.-129+37T= (n.-129+37T=) | |
X | g.154031359A>C | CA415174565 | MECP2 | c.469T>G (p.Phe157Val) c.505T>G (p.Phe169Val) c.65+37T>G c.468+37T>G (n.468+37T>G) n.2817T>G c.457T>G (p.Phe153Val) c.432+37T>G (n.432+37T>G) c.190T>G (p.Phe64Val) c.-129+37T>G (n.-129+37T>G) | |
X | g.154031359A>G | CA415174571 | MECP2 | c.469T>C (p.Phe157Leu) c.505T>C (p.Phe169Leu) c.65+37T>C c.468+37T>C (n.468+37T>C) n.2817T>C c.457T>C (p.Phe153Leu) c.432+37T>C (n.432+37T>C) c.190T>C (p.Phe64Leu) c.-129+37T>C (n.-129+37T>C) | |
X | g.154031359A>T | CA274628 | MECP2 | c.469T>A (p.Phe157Ile) c.505T>A (p.Phe169Ile) c.65+37T>A c.468+37T>A (n.468+37T>A) n.2817T>A c.457T>A (p.Phe153Ile) c.432+37T>A (n.432+37T>A) c.190T>A (p.Phe64Ile) c.-129+37T>A (n.-129+37T>A) | ClinVar dbSNP |
X | g.154031360G>A | CA232972 | MECP2 | c.468C>T (p.Asp156=) c.504C>T (p.Asp168=) c.65+36C>T c.468+36C>T (n.468+36C>T) n.2816C>T c.456C>T (p.Asp152=) c.432+36C>T (n.432+36C>T) c.189C>T (p.Asp63=) c.-129+36C>T (n.-129+36C>T) | ClinVar dbSNP |
X | g.154031360G>C | CA202769 | MECP2 | c.468C>G (p.Asp156Glu) c.504C>G (p.Asp168Glu) c.65+36C>G c.468+36C>G (n.468+36C>G) n.2816C>G c.456C>G (p.Asp152Glu) c.432+36C>G (n.432+36C>G) c.189C>G (p.Asp63Glu) c.-129+36C>G (n.-129+36C>G) | ClinVar dbSNP |
X | g.154031360G= | CA2466570993 | MECP2 | c.468C= (p.Asp156=) c.504C= (p.Asp168=) c.65+36C= c.468+36C= (n.468+36C=) n.2816C= c.456C= (p.Asp152=) c.432+36C= (n.432+36C=) c.189C= (p.Asp63=) c.-129+36C= (n.-129+36C=) | |
X | g.154031360G>T | CA16609353 | MECP2 | c.468C>A (p.Asp156Glu) c.504C>A (p.Asp168Glu) c.65+36C>A c.468+36C>A (n.468+36C>A) n.2816C>A c.456C>A (p.Asp152Glu) c.432+36C>A (n.432+36C>A) c.189C>A (p.Asp63Glu) c.-129+36C>A (n.-129+36C>A) | ClinVar dbSNP |
X | g.154031360dup | CA2695237611 | MECP2 | c.468dup (p.Phe157LeufsTer18) c.504dup (p.Phe169LeufsTer18) c.65+36dup c.468+36dup (n.468+36dup) n.2816dup c.456dup (p.Phe153LeufsTer?) c.456dup (p.Phe153LeufsTer18) c.432+36dup (n.432+36dup) c.189dup (p.Phe64LeufsTer18) c.-129+36dup (n.-129+36dup) | |
X | g.154031361T>A | CA415174585 | MECP2 | c.467A>T (p.Asp156Val) c.503A>T (p.Asp168Val) c.65+35A>T c.468+35A>T (n.468+35A>T) n.2815A>T c.455A>T (p.Asp152Val) c.432+35A>T (n.432+35A>T) c.188A>T (p.Asp63Val) c.-129+35A>T (n.-129+35A>T) | |
X | g.154031361T>C | CA270431 | MECP2 | c.467A>G (p.Asp156Gly) c.503A>G (p.Asp168Gly) c.65+35A>G c.468+35A>G (n.468+35A>G) n.2815A>G c.455A>G (p.Asp152Gly) c.432+35A>G (n.432+35A>G) c.188A>G (p.Asp63Gly) c.-129+35A>G (n.-129+35A>G) | ClinVar dbSNP |
X | g.154031361T>G | CA270428 | MECP2 | c.467A>C (p.Asp156Ala) c.503A>C (p.Asp168Ala) c.65+35A>C c.468+35A>C (n.468+35A>C) n.2815A>C c.455A>C (p.Asp152Ala) c.432+35A>C (n.432+35A>C) c.188A>C (p.Asp63Ala) c.-129+35A>C (n.-129+35A>C) | ClinVar dbSNP |
X | g.154031361T= | CA2466570994 | MECP2 | c.467A= (p.Asp156=) c.503A= (p.Asp168=) c.65+35A= c.468+35A= (n.468+35A=) n.2815A= c.455A= (p.Asp152=) c.432+35A= (n.432+35A=) c.188A= (p.Asp63=) c.-129+35A= (n.-129+35A=) | |
X | g.154031362C>A | CA415174595 | MECP2 | c.466G>T (p.Asp156Tyr) c.502G>T (p.Asp168Tyr) c.65+34G>T c.468+34G>T (n.468+34G>T) n.2814G>T c.454G>T (p.Asp152Tyr) c.432+34G>T (n.432+34G>T) c.187G>T (p.Asp63Tyr) c.-129+34G>T (n.-129+34G>T) | ClinVar dbSNP |
X | g.154031362C= | CA2466570995 | MECP2 | c.466G= (p.Asp156=) c.502G= (p.Asp168=) c.65+34G= c.468+34G= (n.468+34G=) n.2814G= c.454G= (p.Asp152=) c.432+34G= (n.432+34G=) c.187G= (p.Asp63=) c.-129+34G= (n.-129+34G=) | |
X | g.154031362C>G | CA415174593 | MECP2 | c.466G>C (p.Asp156His) c.502G>C (p.Asp168His) c.65+34G>C c.468+34G>C (n.468+34G>C) n.2814G>C c.454G>C (p.Asp152His) c.432+34G>C (n.432+34G>C) c.187G>C (p.Asp63His) c.-129+34G>C (n.-129+34G>C) | |
X | g.154031362C>T | CA415174594 | MECP2 | c.466G>A (p.Asp156Asn) c.502G>A (p.Asp168Asn) c.65+34G>A c.468+34G>A (n.468+34G>A) n.2814G>A c.454G>A (p.Asp152Asn) c.432+34G>A (n.432+34G>A) c.187G>A (p.Asp63Asn) c.-129+34G>A (n.-129+34G>A) | |
X | g.154031363A>C | CA415174596 | MECP2 | c.465T>G (p.Phe155Leu) c.501T>G (p.Phe167Leu) c.65+33T>G c.468+33T>G (n.468+33T>G) n.2813T>G c.453T>G (p.Phe151Leu) c.432+33T>G (n.432+33T>G) c.186T>G (p.Phe62Leu) c.-129+33T>G (n.-129+33T>G) | |
X | g.154031363A>G | CA519705622 | MECP2 | c.465T>C (p.Phe155=) c.501T>C (p.Phe167=) c.65+33T>C c.468+33T>C (n.468+33T>C) n.2813T>C c.453T>C (p.Phe151=) c.432+33T>C (n.432+33T>C) c.186T>C (p.Phe62=) c.-129+33T>C (n.-129+33T>C) | |
X | g.154031363A>T | CA415174597 | MECP2 | c.465T>A (p.Phe155Leu) c.501T>A (p.Phe167Leu) c.65+33T>A c.468+33T>A (n.468+33T>A) n.2813T>A c.453T>A (p.Phe151Leu) c.432+33T>A (n.432+33T>A) c.186T>A (p.Phe62Leu) c.-129+33T>A (n.-129+33T>A) | |
X | g.154031364A= | CA2466570996 | MECP2 | c.464T= (p.Phe155=) c.500T= (p.Phe167=) c.65+32T= c.468+32T= (n.468+32T=) n.2812T= c.452T= (p.Phe151=) c.432+32T= (n.432+32T=) c.185T= (p.Phe62=) c.-129+32T= (n.-129+32T=) | |
X | g.154031364A>C | CA232969 | MECP2 | c.464T>G (p.Phe155Cys) c.500T>G (p.Phe167Cys) c.65+32T>G c.468+32T>G (n.468+32T>G) n.2812T>G c.452T>G (p.Phe151Cys) c.432+32T>G (n.432+32T>G) c.185T>G (p.Phe62Cys) c.-129+32T>G (n.-129+32T>G) | ClinVar dbSNP |
X | g.154031364A>G | CA256087 | MECP2 | c.464T>C (p.Phe155Ser) c.500T>C (p.Phe167Ser) c.65+32T>C c.468+32T>C (n.468+32T>C) n.2812T>C c.452T>C (p.Phe151Ser) c.432+32T>C (n.432+32T>C) c.185T>C (p.Phe62Ser) c.-129+32T>C (n.-129+32T>C) | ClinVar dbSNP |
X | g.154031364A>T | CA415174602 | MECP2 | c.464T>A (p.Phe155Tyr) c.500T>A (p.Phe167Tyr) c.65+32T>A c.468+32T>A (n.468+32T>A) n.2812T>A c.452T>A (p.Phe151Tyr) c.432+32T>A (n.432+32T>A) c.185T>A (p.Phe62Tyr) c.-129+32T>A (n.-129+32T>A) | |
X | g.154031365A= | CA2466570997 | MECP2 | c.463T= (p.Phe155=) c.499T= (p.Phe167=) c.65+31T= c.468+31T= (n.468+31T=) n.2811T= c.451T= (p.Phe151=) c.432+31T= (n.432+31T=) c.184T= (p.Phe62=) c.-129+31T= (n.-129+31T=) | |
X | g.154031365A>C | CA415174613 | MECP2 | c.463T>G (p.Phe155Val) c.499T>G (p.Phe167Val) c.65+31T>G c.468+31T>G (n.468+31T>G) n.2811T>G c.451T>G (p.Phe151Val) c.432+31T>G (n.432+31T>G) c.184T>G (p.Phe62Val) c.-129+31T>G (n.-129+31T>G) | |
X | g.154031365A>G | CA415174625 | MECP2 | c.463T>C (p.Phe155Leu) c.499T>C (p.Phe167Leu) c.65+31T>C c.468+31T>C (n.468+31T>C) n.2811T>C c.451T>C (p.Phe151Leu) c.432+31T>C (n.432+31T>C) c.184T>C (p.Phe62Leu) c.-129+31T>C (n.-129+31T>C) | |
X | g.154031365A>T | CA270426 | MECP2 | c.463T>A (p.Phe155Ile) c.499T>A (p.Phe167Ile) c.65+31T>A c.468+31T>A (n.468+31T>A) n.2811T>A c.451T>A (p.Phe151Ile) c.432+31T>A (n.432+31T>A) c.184T>A (p.Phe62Ile) c.-129+31T>A (n.-129+31T>A) | ClinVar dbSNP |
X | g.154031366A>C | CA415174628 | MECP2 | c.462T>G (p.Asp154Glu) c.498T>G (p.Asp166Glu) c.65+30T>G c.468+30T>G (n.468+30T>G) n.2810T>G c.450T>G (p.Asp150Glu) c.432+30T>G (n.432+30T>G) c.183T>G (p.Asp61Glu) c.-129+30T>G (n.-129+30T>G) | |
X | g.154031366A>G | CA519705626 | MECP2 | c.462T>C (p.Asp154=) c.498T>C (p.Asp166=) c.65+30T>C c.468+30T>C (n.468+30T>C) n.2810T>C c.450T>C (p.Asp150=) c.432+30T>C (n.432+30T>C) c.183T>C (p.Asp61=) c.-129+30T>C (n.-129+30T>C) | |
X | g.154031366A>T | CA415174629 | MECP2 | c.462T>A (p.Asp154Glu) c.498T>A (p.Asp166Glu) c.65+30T>A c.468+30T>A (n.468+30T>A) n.2810T>A c.450T>A (p.Asp150Glu) c.432+30T>A (n.432+30T>A) c.183T>A (p.Asp61Glu) c.-129+30T>A (n.-129+30T>A) | |
X | g.154031367T>A | CA415174631 | MECP2 | c.461A>T (p.Asp154Val) c.497A>T (p.Asp166Val) c.65+29A>T c.468+29A>T (n.468+29A>T) n.2809A>T c.449A>T (p.Asp150Val) c.432+29A>T (n.432+29A>T) c.182A>T (p.Asp61Val) c.-129+29A>T (n.-129+29A>T) | |
X | g.154031367T>C | CA337264466 | MECP2 | c.461A>G (p.Asp154Gly) c.497A>G (p.Asp166Gly) c.65+29A>G c.468+29A>G (n.468+29A>G) n.2809A>G c.449A>G (p.Asp150Gly) c.432+29A>G (n.432+29A>G) c.182A>G (p.Asp61Gly) c.-129+29A>G (n.-129+29A>G) | dbSNP COSMIC |
X | g.154031367T>G | CA415174630 | MECP2 | c.461A>C (p.Asp154Ala) c.497A>C (p.Asp166Ala) c.65+29A>C c.468+29A>C (n.468+29A>C) n.2809A>C c.449A>C (p.Asp150Ala) c.432+29A>C (n.432+29A>C) c.182A>C (p.Asp61Ala) c.-129+29A>C (n.-129+29A>C) | |
X | g.154031367T= | CA2466570998 | MECP2 | c.461A= (p.Asp154=) c.497A= (p.Asp166=) c.65+29A= c.468+29A= (n.468+29A=) n.2809A= c.449A= (p.Asp150=) c.432+29A= (n.432+29A=) c.182A= (p.Asp61=) c.-129+29A= (n.-129+29A=) | |
X | g.154031368C>A | CA415174632 | MECP2 | c.460G>T (p.Asp154Tyr) c.496G>T (p.Asp166Tyr) c.65+28G>T c.468+28G>T (n.468+28G>T) n.2808G>T c.448G>T (p.Asp150Tyr) c.432+28G>T (n.432+28G>T) c.181G>T (p.Asp61Tyr) c.-129+28G>T (n.-129+28G>T) | |
X | g.154031368C>G | CA415174633 | MECP2 | c.460G>C (p.Asp154His) c.496G>C (p.Asp166His) c.65+28G>C c.468+28G>C (n.468+28G>C) n.2808G>C c.448G>C (p.Asp150His) c.432+28G>C (n.432+28G>C) c.181G>C (p.Asp61His) c.-129+28G>C (n.-129+28G>C) | |
X | g.154031368C>T | CA415174634 | MECP2 | c.460G>A (p.Asp154Asn) c.496G>A (p.Asp166Asn) c.65+28G>A c.468+28G>A (n.468+28G>A) n.2808G>A c.448G>A (p.Asp150Asn) c.432+28G>A (n.432+28G>A) c.181G>A (p.Asp61Asn) c.-129+28G>A (n.-129+28G>A) | |
X | g.154031369A>C | CA415174651 | MECP2 | c.459T>G (p.Asn153Lys) c.495T>G (p.Asn165Lys) c.65+27T>G c.468+27T>G (n.468+27T>G) n.2807T>G c.447T>G (p.Asn149Lys) c.432+27T>G (n.432+27T>G) c.180T>G (p.Asn60Lys) c.-129+27T>G (n.-129+27T>G) | |
X | g.154031369A>G | CA519705628 | MECP2 | c.459T>C (p.Asn153=) c.495T>C (p.Asn165=) c.65+27T>C c.468+27T>C (n.468+27T>C) n.2807T>C c.447T>C (p.Asn149=) c.432+27T>C (n.432+27T>C) c.180T>C (p.Asn60=) c.-129+27T>C (n.-129+27T>C) | |
X | g.154031369A>T | CA415174654 | MECP2 | c.459T>A (p.Asn153Lys) c.495T>A (p.Asn165Lys) c.65+27T>A c.468+27T>A (n.468+27T>A) n.2807T>A c.447T>A (p.Asn149Lys) c.432+27T>A (n.432+27T>A) c.180T>A (p.Asn60Lys) c.-129+27T>A (n.-129+27T>A) | |
X | g.154031370T>A | CA415174659 | MECP2 | c.458A>T (p.Asn153Ile) c.494A>T (p.Asn165Ile) c.65+26A>T c.*512A>T (n.*512A>T) c.468+26A>T (n.468+26A>T) n.2806A>T c.446A>T (p.Asn149Ile) c.432+26A>T (n.432+26A>T) c.179A>T (p.Asn60Ile) c.-129+26A>T (n.-129+26A>T) | |
X | g.154031370T>C | CA415174662 | MECP2 | c.458A>G (p.Asn153Ser) c.494A>G (p.Asn165Ser) c.65+26A>G c.*512A>G (n.*512A>G) c.468+26A>G (n.468+26A>G) n.2806A>G c.446A>G (p.Asn149Ser) c.432+26A>G (n.432+26A>G) c.179A>G (p.Asn60Ser) c.-129+26A>G (n.-129+26A>G) | |
X | g.154031370T>G | CA415174683 | MECP2 | c.458A>C (p.Asn153Thr) c.494A>C (p.Asn165Thr) c.65+26A>C c.*512A>C (n.*512A>C) c.468+26A>C (n.468+26A>C) n.2806A>C c.446A>C (p.Asn149Thr) c.432+26A>C (n.432+26A>C) c.179A>C (p.Asn60Thr) c.-129+26A>C (n.-129+26A>C) | |
X | g.154031371T>A | CA415174687 | MECP2 | c.457A>T (p.Asn153Tyr) c.493A>T (p.Asn165Tyr) c.65+25A>T c.*511A>T (n.*511A>T) c.468+25A>T (n.468+25A>T) n.2805A>T c.445A>T (p.Asn149Tyr) c.432+25A>T (n.432+25A>T) c.178A>T (p.Asn60Tyr) c.-129+25A>T (n.-129+25A>T) | |
X | g.154031371T>C | CA415174690 | MECP2 | c.457A>G (p.Asn153Asp) c.493A>G (p.Asn165Asp) c.65+25A>G c.*511A>G (n.*511A>G) c.468+25A>G (n.468+25A>G) n.2805A>G c.445A>G (p.Asn149Asp) c.432+25A>G (n.432+25A>G) c.178A>G (p.Asn60Asp) c.-129+25A>G (n.-129+25A>G) | gnomAD v4 |
X | g.154031371T>G | CA415174695 | MECP2 | c.457A>C (p.Asn153His) c.493A>C (p.Asn165His) c.65+25A>C c.*511A>C (n.*511A>C) c.468+25A>C (n.468+25A>C) n.2805A>C c.445A>C (p.Asn149His) c.432+25A>C (n.432+25A>C) c.178A>C (p.Asn60His) c.-129+25A>C (n.-129+25A>C) | |
X | g.154031372A>C | CA519705632 | MECP2 | c.456T>G (p.Pro152=) c.492T>G (p.Pro164=) c.65+24T>G c.*510T>G (n.*510T>G) c.468+24T>G (n.468+24T>G) n.2804T>G c.444T>G (p.Pro148=) c.432+24T>G (n.432+24T>G) c.177T>G (p.Pro59=) c.-129+24T>G (n.-129+24T>G) | |
X | g.154031372A>G | CA519705633 | MECP2 | c.456T>C (p.Pro152=) c.492T>C (p.Pro164=) c.65+24T>C c.*510T>C (n.*510T>C) c.468+24T>C (n.468+24T>C) n.2804T>C c.444T>C (p.Pro148=) c.432+24T>C (n.432+24T>C) c.177T>C (p.Pro59=) c.-129+24T>C (n.-129+24T>C) | |
X | g.154031372A>T | CA519705634 | MECP2 | c.456T>A (p.Pro152=) c.492T>A (p.Pro164=) c.65+24T>A c.*510T>A (n.*510T>A) c.468+24T>A (n.468+24T>A) n.2804T>A c.444T>A (p.Pro148=) c.432+24T>A (n.432+24T>A) c.177T>A (p.Pro59=) c.-129+24T>A (n.-129+24T>A) | |
X | g.154031373G>A | CA415174704 | MECP2 | c.455C>T (p.Pro152Leu) c.491C>T (p.Pro164Leu) c.65+23C>T c.*509C>T (n.*509C>T) c.468+23C>T (n.468+23C>T) n.2803C>T c.443C>T (p.Pro148Leu) c.432+23C>T (n.432+23C>T) c.176C>T (p.Pro59Leu) c.-129+23C>T (n.-129+23C>T) | ClinVar |
X | g.154031373G>C | CA270424 | MECP2 | c.455C>G (p.Pro152Arg) c.491C>G (p.Pro164Arg) c.65+23C>G c.*509C>G (n.*509C>G) c.468+23C>G (n.468+23C>G) n.2803C>G c.443C>G (p.Pro148Arg) c.432+23C>G (n.432+23C>G) c.176C>G (p.Pro59Arg) c.-129+23C>G (n.-129+23C>G) | ClinVar dbSNP |
X | g.154031373G= | CA2466570999 | MECP2 | c.455C= (p.Pro152=) c.491C= (p.Pro164=) c.65+23C= c.*509C= (n.*509C=) c.468+23C= (n.468+23C=) n.2803C= c.443C= (p.Pro148=) c.432+23C= (n.432+23C=) c.176C= (p.Pro59=) c.-129+23C= (n.-129+23C=) | |
X | g.154031373G>T | CA415174698 | MECP2 | c.455C>A (p.Pro152His) c.491C>A (p.Pro164His) c.65+23C>A c.*509C>A (n.*509C>A) c.468+23C>A (n.468+23C>A) n.2803C>A c.443C>A (p.Pro148His) c.432+23C>A (n.432+23C>A) c.176C>A (p.Pro59His) c.-129+23C>A (n.-129+23C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154031374G>A | CA415174708 | MECP2 | c.454C>T (p.Pro152Ser) c.490C>T (p.Pro164Ser) c.65+22C>T c.*508C>T (n.*508C>T) c.468+22C>T (n.468+22C>T) n.2802C>T c.442C>T (p.Pro148Ser) c.432+22C>T (n.432+22C>T) c.175C>T (p.Pro59Ser) c.-129+22C>T (n.-129+22C>T) | |
X | g.154031374G>C | CA121717 | MECP2 | c.454C>G (p.Pro152Ala) c.490C>G (p.Pro164Ala) c.65+22C>G c.*508C>G (n.*508C>G) c.468+22C>G (n.468+22C>G) n.2802C>G c.442C>G (p.Pro148Ala) c.432+22C>G (n.432+22C>G) c.175C>G (p.Pro59Ala) c.-129+22C>G (n.-129+22C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154031374G= | CA2466571000 | MECP2 | c.454C= (p.Pro152=) c.490C= (p.Pro164=) c.65+22C= c.*508C= (n.*508C=) c.468+22C= (n.468+22C=) n.2802C= c.442C= (p.Pro148=) c.432+22C= (n.432+22C=) c.175C= (p.Pro59=) c.-129+22C= (n.-129+22C=) | |
X | g.154031374G>T | CA415174714 | MECP2 | c.454C>A (p.Pro152Thr) c.490C>A (p.Pro164Thr) c.65+22C>A c.*508C>A (n.*508C>A) c.468+22C>A (n.468+22C>A) n.2802C>A c.442C>A (p.Pro148Thr) c.432+22C>A (n.432+22C>A) c.175C>A (p.Pro59Thr) c.-129+22C>A (n.-129+22C>A) | ClinVar |
X | g.154031375G>A | CA519705636 | MECP2 | c.453C>T (p.Asp151=) c.489C>T (p.Asp163=) c.65+21C>T c.*507C>T (n.*507C>T) c.468+21C>T (n.468+21C>T) n.2801C>T c.441C>T (p.Asp147=) c.432+21C>T (n.432+21C>T) c.174C>T (p.Asp58=) c.-129+21C>T (n.-129+21C>T) | dbSNP gnomAD v4 |
X | g.154031375G>C | CA415174716 | MECP2 | c.453C>G (p.Asp151Glu) c.489C>G (p.Asp163Glu) c.65+21C>G c.*507C>G (n.*507C>G) c.468+21C>G (n.468+21C>G) n.2801C>G c.441C>G (p.Asp147Glu) c.432+21C>G (n.432+21C>G) c.174C>G (p.Asp58Glu) c.-129+21C>G (n.-129+21C>G) | |
X | g.154031375G>T | CA415174720 | MECP2 | c.453C>A (p.Asp151Glu) c.489C>A (p.Asp163Glu) c.65+21C>A c.*507C>A (n.*507C>A) c.468+21C>A (n.468+21C>A) n.2801C>A c.441C>A (p.Asp147Glu) c.432+21C>A (n.432+21C>A) c.174C>A (p.Asp58Glu) c.-129+21C>A (n.-129+21C>A) | |
X | g.154031376T>A | CA415174729 | MECP2 | c.452A>T (p.Asp151Val) c.488A>T (p.Asp163Val) c.65+20A>T c.*506A>T (n.*506A>T) c.468+20A>T (n.468+20A>T) n.2800A>T c.440A>T (p.Asp147Val) c.432+20A>T (n.432+20A>T) c.173A>T (p.Asp58Val) c.-129+20A>T (n.-129+20A>T) | ClinVar |
X | g.154031376T>C | CA270421 | MECP2 | c.452A>G (p.Asp151Gly) c.488A>G (p.Asp163Gly) c.65+20A>G c.*506A>G (n.*506A>G) c.468+20A>G (n.468+20A>G) n.2800A>G c.440A>G (p.Asp147Gly) c.432+20A>G (n.432+20A>G) c.173A>G (p.Asp58Gly) c.-129+20A>G (n.-129+20A>G) | ClinVar dbSNP |
X | g.154031376T>G | CA415174732 | MECP2 | c.452A>C (p.Asp151Ala) c.488A>C (p.Asp163Ala) c.65+20A>C c.*506A>C (n.*506A>C) c.468+20A>C (n.468+20A>C) n.2800A>C c.440A>C (p.Asp147Ala) c.432+20A>C (n.432+20A>C) c.173A>C (p.Asp58Ala) c.-129+20A>C (n.-129+20A>C) | |
X | g.154031376T= | CA2466571002 | MECP2 | c.452A= (p.Asp151=) c.488A= (p.Asp163=) c.65+20A= c.*506A= (n.*506A=) c.468+20A= (n.468+20A=) n.2800A= c.440A= (p.Asp147=) c.432+20A= (n.432+20A=) c.173A= (p.Asp58=) c.-129+20A= (n.-129+20A=) | |
X | g.154031376_154031377delinsTC | CA2466571001 | MECP2 | c.451_452delinsGA (p.Asp151=) c.487_488delinsGA (p.Asp163=) c.65+19_65+20delinsGA c.*505_*506delinsGA (n.*505_*506delinsGA) c.468+19_468+20delinsGA (n.468+19_468+20delinsGA) n.2799_2800delinsGA c.439_440delinsGA (p.Asp147=) c.432+19_432+20delinsGA (n.432+19_432+20delinsGA) c.172_173delinsGA (p.Asp58=) c.-129+19_-129+20delinsGA (n.-129+19_-129+20delinsGA) | |
X | g.154031377C>A | CA415174739 | MECP2 | c.451G>T (p.Asp151Tyr) c.487G>T (p.Asp163Tyr) c.65+19G>T c.*505G>T (n.*505G>T) c.468+19G>T (n.468+19G>T) n.2799G>T c.439G>T (p.Asp147Tyr) c.432+19G>T (n.432+19G>T) c.172G>T (p.Asp58Tyr) c.-129+19G>T (n.-129+19G>T) | ClinVar dbSNP |
X | g.154031377C= | CA2466571003 | MECP2 | c.451G= (p.Asp151=) c.487G= (p.Asp163=) c.65+19G= c.*505G= (n.*505G=) c.468+19G= (n.468+19G=) n.2799G= c.439G= (p.Asp147=) c.432+19G= (n.432+19G=) c.172G= (p.Asp58=) c.-129+19G= (n.-129+19G=) | |
X | g.154031377C>G | CA415174742 | MECP2 | c.451G>C (p.Asp151His) c.487G>C (p.Asp163His) c.65+19G>C c.*505G>C (n.*505G>C) c.468+19G>C (n.468+19G>C) n.2799G>C c.439G>C (p.Asp147His) c.432+19G>C (n.432+19G>C) c.172G>C (p.Asp58His) c.-129+19G>C (n.-129+19G>C) | |
X | g.154031377C>T | CA415174749 | MECP2 | c.451G>A (p.Asp151Asn) c.487G>A (p.Asp163Asn) c.65+19G>A c.*505G>A (n.*505G>A) c.468+19G>A (n.468+19G>A) n.2799G>A c.439G>A (p.Asp147Asn) c.432+19G>A (n.432+19G>A) c.172G>A (p.Asp58Asn) c.-129+19G>A (n.-129+19G>A) | |
X | g.154031378del | CA270420 | MECP2 | c.451del (p.Asp151ThrfsTer9) c.487del (p.Asp163ThrfsTer9) c.65+19del c.*505del (n.*505del) c.468+19del (n.468+19del) n.2799del c.439del (p.Asp147ThrfsTer9) c.432+19del (n.432+19del) c.172del (p.Asp58ThrfsTer9) c.-129+19del (n.-129+19del) | ClinVar dbSNP |
X | g.154031378C>A | CA519705641 | MECP2 | c.450G>T (p.Leu150=) c.486G>T (p.Leu162=) c.65+18G>T c.*504G>T (n.*504G>T) c.468+18G>T (n.468+18G>T) n.2798G>T c.438G>T (p.Leu146=) c.432+18G>T (n.432+18G>T) c.171G>T (p.Leu57=) c.-129+18G>T (n.-129+18G>T) | |
X | g.154031378C= | CA2466571004 | MECP2 | c.450G= (p.Leu150=) c.486G= (p.Leu162=) c.65+18G= c.*504G= (n.*504G=) c.468+18G= (n.468+18G=) n.2798G= c.438G= (p.Leu146=) c.432+18G= (n.432+18G=) c.171G= (p.Leu57=) c.-129+18G= (n.-129+18G=) | |
X | g.154031378C>G | CA16616447 | MECP2 | c.450G>C (p.Leu150=) c.486G>C (p.Leu162=) c.65+18G>C c.*504G>C (n.*504G>C) c.468+18G>C (n.468+18G>C) n.2798G>C c.438G>C (p.Leu146=) c.432+18G>C (n.432+18G>C) c.171G>C (p.Leu57=) c.-129+18G>C (n.-129+18G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.154031378C>T | CA519705640 | MECP2 | c.450G>A (p.Leu150=) c.486G>A (p.Leu162=) c.65+18G>A c.*504G>A (n.*504G>A) c.468+18G>A (n.468+18G>A) n.2798G>A c.438G>A (p.Leu146=) c.432+18G>A (n.432+18G>A) c.171G>A (p.Leu57=) c.-129+18G>A (n.-129+18G>A) | |
X | g.154031379A>C | CA415174759 | MECP2 | c.449T>G (p.Leu150Arg) c.485T>G (p.Leu162Arg) c.65+17T>G c.*503T>G (n.*503T>G) c.468+17T>G (n.468+17T>G) n.2797T>G c.437T>G (p.Leu146Arg) c.432+17T>G (n.432+17T>G) c.170T>G (p.Leu57Arg) c.-129+17T>G (n.-129+17T>G) | |
X | g.154031379A>G | CA415174757 | MECP2 | c.449T>C (p.Leu150Pro) c.485T>C (p.Leu162Pro) c.65+17T>C c.*503T>C (n.*503T>C) c.468+17T>C (n.468+17T>C) n.2797T>C c.437T>C (p.Leu146Pro) c.432+17T>C (n.432+17T>C) c.170T>C (p.Leu57Pro) c.-129+17T>C (n.-129+17T>C) | |
X | g.154031379A>T | CA415174756 | MECP2 | c.449T>A (p.Leu150Gln) c.485T>A (p.Leu162Gln) c.65+17T>A c.*503T>A (n.*503T>A) c.468+17T>A (n.468+17T>A) n.2797T>A c.437T>A (p.Leu146Gln) c.432+17T>A (n.432+17T>A) c.170T>A (p.Leu57Gln) c.-129+17T>A (n.-129+17T>A) | |
X | g.154031380G>A | CA10558605 | MECP2 | c.448C>T (p.Leu150=) c.484C>T (p.Leu162=) c.65+16C>T c.*502C>T (n.*502C>T) c.468+16C>T (n.468+16C>T) n.2796C>T c.436C>T (p.Leu146=) c.432+16C>T (n.432+16C>T) c.169C>T (p.Leu57=) c.-129+16C>T (n.-129+16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154031380G>C | CA415174765 | MECP2 | c.448C>G (p.Leu150Val) c.484C>G (p.Leu162Val) c.65+16C>G c.*502C>G (n.*502C>G) c.468+16C>G (n.468+16C>G) n.2796C>G c.436C>G (p.Leu146Val) c.432+16C>G (n.432+16C>G) c.169C>G (p.Leu57Val) c.-129+16C>G (n.-129+16C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.154031380G= | CA2466571005 | MECP2 | c.448C= (p.Leu150=) c.484C= (p.Leu162=) c.65+16C= c.*502C= (n.*502C=) c.468+16C= (n.468+16C=) n.2796C= c.436C= (p.Leu146=) c.432+16C= (n.432+16C=) c.169C= (p.Leu57=) c.-129+16C= (n.-129+16C=) | |
X | g.154031380G>T | CA415174763 | MECP2 | c.448C>A (p.Leu150Met) c.484C>A (p.Leu162Met) c.65+16C>A c.*502C>A (n.*502C>A) c.468+16C>A (n.468+16C>A) n.2796C>A c.436C>A (p.Leu146Met) c.432+16C>A (n.432+16C>A) c.169C>A (p.Leu57Met) c.-129+16C>A (n.-129+16C>A) |