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.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.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.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) | |
X | g.154031381G>A | CA519705644 | MECP2 | c.447C>T (p.Ser149=) c.483C>T (p.Ser161=) c.65+15C>T c.*501C>T (n.*501C>T) c.468+15C>T (n.468+15C>T) n.2795C>T c.435C>T (p.Ser145=) c.432+15C>T (n.432+15C>T) c.168C>T (p.Ser56=) c.-129+15C>T (n.-129+15C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
X | g.154031381G>C | CA519705645 | MECP2 | c.447C>G (p.Ser149=) c.483C>G (p.Ser161=) c.65+15C>G c.*501C>G (n.*501C>G) c.468+15C>G (n.468+15C>G) n.2795C>G c.435C>G (p.Ser145=) c.432+15C>G (n.432+15C>G) c.168C>G (p.Ser56=) c.-129+15C>G (n.-129+15C>G) | gnomAD v4 |
X | g.154031381G= | CA2466571006 | MECP2 | c.447C= (p.Ser149=) c.483C= (p.Ser161=) c.65+15C= c.*501C= (n.*501C=) c.468+15C= (n.468+15C=) n.2795C= c.435C= (p.Ser145=) c.432+15C= (n.432+15C=) c.168C= (p.Ser56=) c.-129+15C= (n.-129+15C=) | |
X | g.154031381G>T | CA10558606 | MECP2 | c.447C>A (p.Ser149=) c.483C>A (p.Ser161=) c.65+15C>A c.*501C>A (n.*501C>A) c.468+15C>A (n.468+15C>A) n.2795C>A c.435C>A (p.Ser145=) c.432+15C>A (n.432+15C>A) c.168C>A (p.Ser56=) c.-129+15C>A (n.-129+15C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154031382G>A | CA415174776 | MECP2 | c.446C>T (p.Ser149Phe) c.482C>T (p.Ser161Phe) c.65+14C>T c.*500C>T (n.*500C>T) c.468+14C>T (n.468+14C>T) n.2794C>T c.434C>T (p.Ser145Phe) c.432+14C>T (n.432+14C>T) c.167C>T (p.Ser56Phe) c.-129+14C>T (n.-129+14C>T) | dbSNP gnomAD v4 |
X | g.154031382G>C | CA415174769 | MECP2 | c.446C>G (p.Ser149Cys) c.482C>G (p.Ser161Cys) c.65+14C>G c.*500C>G (n.*500C>G) c.468+14C>G (n.468+14C>G) n.2794C>G c.434C>G (p.Ser145Cys) c.432+14C>G (n.432+14C>G) c.167C>G (p.Ser56Cys) c.-129+14C>G (n.-129+14C>G) | |
X | g.154031382G= | CA2466571007 | MECP2 | c.446C= (p.Ser149=) c.482C= (p.Ser161=) c.65+14C= c.*500C= (n.*500C=) c.468+14C= (n.468+14C=) n.2794C= c.434C= (p.Ser145=) c.432+14C= (n.432+14C=) c.167C= (p.Ser56=) c.-129+14C= (n.-129+14C=) | |
X | g.154031382G>T | CA415174773 | MECP2 | c.446C>A (p.Ser149Tyr) c.482C>A (p.Ser161Tyr) c.65+14C>A c.*500C>A (n.*500C>A) c.468+14C>A (n.468+14C>A) n.2794C>A c.434C>A (p.Ser145Tyr) c.432+14C>A (n.432+14C>A) c.167C>A (p.Ser56Tyr) c.-129+14C>A (n.-129+14C>A) | |
X | g.154031383A>C | CA415174781 | MECP2 | c.445T>G (p.Ser149Ala) c.481T>G (p.Ser161Ala) c.65+13T>G c.*499T>G (n.*499T>G) c.468+13T>G (n.468+13T>G) n.2793T>G c.433T>G (p.Ser145Ala) c.432+13T>G (n.432+13T>G) c.166T>G (p.Ser56Ala) c.-129+13T>G (n.-129+13T>G) | |
X | g.154031383A>G | CA415174784 | MECP2 | c.445T>C (p.Ser149Pro) c.481T>C (p.Ser161Pro) c.65+13T>C c.*499T>C (n.*499T>C) c.468+13T>C (n.468+13T>C) n.2793T>C c.433T>C (p.Ser145Pro) c.432+13T>C (n.432+13T>C) c.166T>C (p.Ser56Pro) c.-129+13T>C (n.-129+13T>C) | |
X | g.154031383A>T | CA415174785 | MECP2 | c.445T>A (p.Ser149Thr) c.481T>A (p.Ser161Thr) c.65+13T>A c.*499T>A (n.*499T>A) c.468+13T>A (n.468+13T>A) n.2793T>A c.433T>A (p.Ser145Thr) c.432+13T>A (n.432+13T>A) c.166T>A (p.Ser56Thr) c.-129+13T>A (n.-129+13T>A) | |
X | g.154031384T>A | CA519705652 | MECP2 | c.444A>T (p.Thr148=) c.480A>T (p.Thr160=) c.65+12A>T c.*498A>T (n.*498A>T) c.468+12A>T (n.468+12A>T) n.2792A>T c.432A>T (p.Thr144=) c.432+12A>T (n.432+12A>T) c.165A>T (p.Thr55=) c.-129+12A>T (n.-129+12A>T) | |
X | g.154031384T>C | CA519705649 | MECP2 | c.444A>G (p.Thr148=) c.480A>G (p.Thr160=) c.65+12A>G c.*498A>G (n.*498A>G) c.468+12A>G (n.468+12A>G) n.2792A>G c.432A>G (p.Thr144=) c.432+12A>G (n.432+12A>G) c.165A>G (p.Thr55=) c.-129+12A>G (n.-129+12A>G) | ClinVar dbSNP gnomAD v4 |
X | g.154031384T>G | CA519705651 | MECP2 | c.444A>C (p.Thr148=) c.480A>C (p.Thr160=) c.65+12A>C c.*498A>C (n.*498A>C) c.468+12A>C (n.468+12A>C) n.2792A>C c.432A>C (p.Thr144=) c.432+12A>C (n.432+12A>C) c.165A>C (p.Thr55=) c.-129+12A>C (n.-129+12A>C) | |
X | g.154031385G>A | CA415174786 | MECP2 | c.443C>T (p.Thr148Ile) c.479C>T (p.Thr160Ile) c.65+11C>T c.*497C>T (n.*497C>T) c.468+11C>T (n.468+11C>T) n.2791C>T c.431C>T (p.Thr144Ile) c.432+11C>T (n.432+11C>T) c.164C>T (p.Thr55Ile) c.-129+11C>T (n.-129+11C>T) | |
X | g.154031385G>C | CA415174787 | MECP2 | c.443C>G (p.Thr148Arg) c.479C>G (p.Thr160Arg) c.65+11C>G c.*497C>G (n.*497C>G) c.468+11C>G (n.468+11C>G) n.2791C>G c.431C>G (p.Thr144Arg) c.432+11C>G (n.432+11C>G) c.164C>G (p.Thr55Arg) c.-129+11C>G (n.-129+11C>G) | ClinVar gnomAD v4 |
X | g.154031385G>T | CA415174788 | MECP2 | c.443C>A (p.Thr148Lys) c.479C>A (p.Thr160Lys) c.65+11C>A c.*497C>A (n.*497C>A) c.468+11C>A (n.468+11C>A) n.2791C>A c.431C>A (p.Thr144Lys) c.432+11C>A (n.432+11C>A) c.164C>A (p.Thr55Lys) c.-129+11C>A (n.-129+11C>A) | |
X | g.154031386T>A | CA415174790 | MECP2 | c.442A>T (p.Thr148Ser) c.478A>T (p.Thr160Ser) c.65+10A>T c.*496A>T (n.*496A>T) c.468+10A>T (n.468+10A>T) n.2790A>T c.430A>T (p.Thr144Ser) c.432+10A>T (n.432+10A>T) c.163A>T (p.Thr55Ser) c.-129+10A>T (n.-129+10A>T) | |
X | g.154031386T>C | CA415174791 | MECP2 | c.442A>G (p.Thr148Ala) c.478A>G (p.Thr160Ala) c.65+10A>G c.*496A>G (n.*496A>G) c.468+10A>G (n.468+10A>G) n.2790A>G c.430A>G (p.Thr144Ala) c.432+10A>G (n.432+10A>G) c.163A>G (p.Thr55Ala) c.-129+10A>G (n.-129+10A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154031386T>G | CA415174793 | MECP2 | c.442A>C (p.Thr148Pro) c.478A>C (p.Thr160Pro) c.65+10A>C c.*496A>C (n.*496A>C) c.468+10A>C (n.468+10A>C) n.2790A>C c.430A>C (p.Thr144Pro) c.432+10A>C (n.432+10A>C) c.163A>C (p.Thr55Pro) c.-129+10A>C (n.-129+10A>C) | |
X | g.154031386T= | CA2466571008 | MECP2 | c.442A= (p.Thr148=) c.478A= (p.Thr160=) c.65+10A= c.*496A= (n.*496A=) c.468+10A= (n.468+10A=) n.2790A= c.430A= (p.Thr144=) c.432+10A= (n.432+10A=) c.163A= (p.Thr55=) c.-129+10A= (n.-129+10A=) | |
X | g.154031387G>A | CA519705654 | MECP2 | c.441C>T (p.Asp147=) c.477C>T (p.Asp159=) c.65+9C>T c.*495C>T (n.*495C>T) c.468+9C>T (n.468+9C>T) n.2789C>T c.429C>T (p.Asp143=) c.432+9C>T (n.432+9C>T) c.162C>T (p.Asp54=) c.-129+9C>T (n.-129+9C>T) | |
X | g.154031387G>C | CA10558607 | MECP2 | c.441C>G (p.Asp147Glu) c.477C>G (p.Asp159Glu) c.65+9C>G c.*495C>G (n.*495C>G) c.468+9C>G (n.468+9C>G) n.2789C>G c.429C>G (p.Asp143Glu) c.432+9C>G (n.432+9C>G) c.162C>G (p.Asp54Glu) c.-129+9C>G (n.-129+9C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154031387G= | CA2466571009 | MECP2 | c.441C= (p.Asp147=) c.477C= (p.Asp159=) c.65+9C= c.*495C= (n.*495C=) c.468+9C= (n.468+9C=) n.2789C= c.429C= (p.Asp143=) c.432+9C= (n.432+9C=) c.162C= (p.Asp54=) c.-129+9C= (n.-129+9C=) | |
X | g.154031387G>T | CA415174859 | MECP2 | c.441C>A (p.Asp147Glu) c.477C>A (p.Asp159Glu) c.65+9C>A c.*495C>A (n.*495C>A) c.468+9C>A (n.468+9C>A) n.2789C>A c.429C>A (p.Asp143Glu) c.432+9C>A (n.432+9C>A) c.162C>A (p.Asp54Glu) c.-129+9C>A (n.-129+9C>A) | gnomAD v4 |
X | g.154031388T>A | CA415174877 | MECP2 | c.440A>T (p.Asp147Val) c.476A>T (p.Asp159Val) c.65+8A>T c.*494A>T (n.*494A>T) c.468+8A>T (n.468+8A>T) n.2788A>T c.428A>T (p.Asp143Val) c.432+8A>T (n.432+8A>T) c.161A>T (p.Asp54Val) c.-129+8A>T (n.-129+8A>T) | |
X | g.154031388T>C | CA415174880 | MECP2 | c.440A>G (p.Asp147Gly) c.476A>G (p.Asp159Gly) c.65+8A>G c.*494A>G (n.*494A>G) c.468+8A>G (n.468+8A>G) n.2788A>G c.428A>G (p.Asp143Gly) c.432+8A>G (n.432+8A>G) c.161A>G (p.Asp54Gly) c.-129+8A>G (n.-129+8A>G) | |
X | g.154031388T>G | CA415174884 | MECP2 | c.440A>C (p.Asp147Ala) c.476A>C (p.Asp159Ala) c.65+8A>C c.*494A>C (n.*494A>C) c.468+8A>C (n.468+8A>C) n.2788A>C c.428A>C (p.Asp143Ala) c.432+8A>C (n.432+8A>C) c.161A>C (p.Asp54Ala) c.-129+8A>C (n.-129+8A>C) | |
X | g.154031388_154031389delinsTC | CA2466571010 | MECP2 | c.439_440delinsGA (p.Asp147=) c.475_476delinsGA (p.Asp159=) c.65+7_65+8delinsGA c.*493_*494delinsGA (n.*493_*494delinsGA) c.468+7_468+8delinsGA (n.468+7_468+8delinsGA) n.2787_2788delinsGA c.427_428delinsGA (p.Asp143=) c.432+7_432+8delinsGA (n.432+7_432+8delinsGA) c.160_161delinsGA (p.Asp54=) c.-129+7_-129+8delinsGA (n.-129+7_-129+8delinsGA) | |
X | g.154031389del | CA270419 | MECP2 | c.439del (p.Asp147ThrfsTer13) c.475del (p.Asp159ThrfsTer13) c.65+7del c.*493del (n.*493del) c.468+7del (n.468+7del) n.2787del c.427del (p.Asp143ThrfsTer13) c.432+7del (n.432+7del) c.160del (p.Asp54ThrfsTer13) c.-129+7del (n.-129+7del) | ClinVar dbSNP |
X | g.154031389C>A | CA415174889 | MECP2 | c.439G>T (p.Asp147Tyr) c.475G>T (p.Asp159Tyr) c.65+7G>T c.*493G>T (n.*493G>T) c.468+7G>T (n.468+7G>T) n.2787G>T c.427G>T (p.Asp143Tyr) c.432+7G>T (n.432+7G>T) c.160G>T (p.Asp54Tyr) c.-129+7G>T (n.-129+7G>T) | |
X | g.154031389C= | CA2466571011 | MECP2 | c.439G= (p.Asp147=) c.475G= (p.Asp159=) c.65+7G= c.*493G= (n.*493G=) c.468+7G= (n.468+7G=) n.2787G= c.427G= (p.Asp143=) c.432+7G= (n.432+7G=) c.160G= (p.Asp54=) c.-129+7G= (n.-129+7G=) | |
X | g.154031389C>G | CA415174892 | MECP2 | c.439G>C (p.Asp147His) c.475G>C (p.Asp159His) c.65+7G>C c.*493G>C (n.*493G>C) c.468+7G>C (n.468+7G>C) n.2787G>C c.427G>C (p.Asp143His) c.432+7G>C (n.432+7G>C) c.160G>C (p.Asp54His) c.-129+7G>C (n.-129+7G>C) | |
X | g.154031389C>T | CA170299 | MECP2 | c.439G>A (p.Asp147Asn) c.475G>A (p.Asp159Asn) c.65+7G>A c.*493G>A (n.*493G>A) c.468+7G>A (n.468+7G>A) n.2787G>A c.427G>A (p.Asp143Asn) c.432+7G>A (n.432+7G>A) c.160G>A (p.Asp54Asn) c.-129+7G>A (n.-129+7G>A) | ClinVar dbSNP |
X | g.154031390G>A | CA232966 | MECP2 | c.438C>T (p.Gly146=) c.474C>T (p.Gly158=) c.65+6C>T c.*492C>T (n.*492C>T) c.468+6C>T (n.468+6C>T) n.2786C>T c.426C>T (p.Gly142=) c.432+6C>T (n.432+6C>T) c.159C>T (p.Gly53=) c.-129+6C>T (n.-129+6C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
X | g.154031390G>C | CA519705658 | MECP2 | c.438C>G (p.Gly146=) c.474C>G (p.Gly158=) c.65+6C>G c.*492C>G (n.*492C>G) c.468+6C>G (n.468+6C>G) n.2786C>G c.426C>G (p.Gly142=) c.432+6C>G (n.432+6C>G) c.159C>G (p.Gly53=) c.-129+6C>G (n.-129+6C>G) | |
X | g.154031390G= | CA2466571012 | MECP2 | c.438C= (p.Gly146=) c.474C= (p.Gly158=) c.65+6C= c.*492C= (n.*492C=) c.468+6C= (n.468+6C=) n.2786C= c.426C= (p.Gly142=) c.432+6C= (n.432+6C=) c.159C= (p.Gly53=) c.-129+6C= (n.-129+6C=) | |
X | g.154031390G>T | CA519705659 | MECP2 | c.438C>A (p.Gly146=) c.474C>A (p.Gly158=) c.65+6C>A c.*492C>A (n.*492C>A) c.468+6C>A (n.468+6C>A) n.2786C>A c.426C>A (p.Gly142=) c.432+6C>A (n.432+6C>A) c.159C>A (p.Gly53=) c.-129+6C>A (n.-129+6C>A) | |
X | g.154031391C>A | CA415174906 | MECP2 | c.437G>T (p.Gly146Val) c.473G>T (p.Gly158Val) c.65+5G>T c.*491G>T (n.*491G>T) c.468+5G>T (n.468+5G>T) n.2785G>T c.425G>T (p.Gly142Val) c.432+5G>T (n.432+5G>T) c.158G>T (p.Gly53Val) c.-129+5G>T (n.-129+5G>T) | |
X | g.154031391C>G | CA415174908 | MECP2 | c.437G>C (p.Gly146Ala) c.473G>C (p.Gly158Ala) c.65+5G>C c.*491G>C (n.*491G>C) c.468+5G>C (n.468+5G>C) n.2785G>C c.425G>C (p.Gly142Ala) c.432+5G>C (n.432+5G>C) c.158G>C (p.Gly53Ala) c.-129+5G>C (n.-129+5G>C) | |
X | g.154031391C>T | CA415174909 | MECP2 | c.437G>A (p.Gly146Asp) c.473G>A (p.Gly158Asp) c.65+5G>A c.*491G>A (n.*491G>A) c.468+5G>A (n.468+5G>A) n.2785G>A c.425G>A (p.Gly142Asp) c.432+5G>A (n.432+5G>A) c.158G>A (p.Gly53Asp) c.-129+5G>A (n.-129+5G>A) | |
X | g.154031392C>A | CA415174931 | MECP2 | c.436G>T (p.Gly146Cys) c.472G>T (p.Gly158Cys) c.65+4G>T c.*490G>T (n.*490G>T) c.468+4G>T (n.468+4G>T) n.2784G>T c.424G>T (p.Gly142Cys) c.432+4G>T (n.432+4G>T) c.157G>T (p.Gly53Cys) c.-129+4G>T (n.-129+4G>T) | |
X | g.154031392C>G | CA415174928 | MECP2 | c.436G>C (p.Gly146Arg) c.472G>C (p.Gly158Arg) c.65+4G>C c.*490G>C (n.*490G>C) c.468+4G>C (n.468+4G>C) n.2784G>C c.424G>C (p.Gly142Arg) c.432+4G>C (n.432+4G>C) c.157G>C (p.Gly53Arg) c.-129+4G>C (n.-129+4G>C) | |
X | g.154031392C>T | CA415174911 | MECP2 | c.436G>A (p.Gly146Ser) c.472G>A (p.Gly158Ser) c.65+4G>A c.*490G>A (n.*490G>A) c.468+4G>A (n.468+4G>A) n.2784G>A c.424G>A (p.Gly142Ser) c.432+4G>A (n.432+4G>A) c.157G>A (p.Gly53Ser) c.-129+4G>A (n.-129+4G>A) | |
X | g.154031393T>A | CA519705663 | MECP2 | c.435A>T (p.Val145=) c.471A>T (p.Val157=) c.65+3A>T c.*489A>T (n.*489A>T) c.468+3A>T (n.468+3A>T) n.2783A>T c.423A>T (p.Val141=) c.432+3A>T (n.432+3A>T) c.156A>T (p.Val52=) c.-129+3A>T (n.-129+3A>T) | |
X | g.154031393T>C | CA519705665 | MECP2 | c.435A>G (p.Val145=) c.471A>G (p.Val157=) c.65+3A>G c.*489A>G (n.*489A>G) c.468+3A>G (n.468+3A>G) n.2783A>G c.423A>G (p.Val141=) c.432+3A>G (n.432+3A>G) c.156A>G (p.Val52=) c.-129+3A>G (n.-129+3A>G) | |
X | g.154031393T>G | CA519705662 | MECP2 | c.435A>C (p.Val145=) c.471A>C (p.Val157=) c.65+3A>C c.*489A>C (n.*489A>C) c.468+3A>C (n.468+3A>C) n.2783A>C c.423A>C (p.Val141=) c.432+3A>C (n.432+3A>C) c.156A>C (p.Val52=) c.-129+3A>C (n.-129+3A>C) | |
X | g.154031394A>C | CA415174935 | MECP2 | c.434T>G (p.Val145Gly) c.470T>G (p.Val157Gly) c.65+2T>G c.*488T>G (n.*488T>G) c.468+2T>G (n.468+2T>G) n.2782T>G c.422T>G (p.Val141Gly) c.432+2T>G (n.432+2T>G) c.155T>G (p.Val52Gly) c.-129+2T>G (n.-129+2T>G) | |
X | g.154031394A>G | CA415174938 | MECP2 | c.434T>C (p.Val145Ala) c.470T>C (p.Val157Ala) c.65+2T>C c.*488T>C (n.*488T>C) c.468+2T>C (n.468+2T>C) n.2782T>C c.422T>C (p.Val141Ala) c.432+2T>C (n.432+2T>C) c.155T>C (p.Val52Ala) c.-129+2T>C (n.-129+2T>C) | |
X | g.154031394A>T | CA415174941 | MECP2 | c.434T>A (p.Val145Glu) c.470T>A (p.Val157Glu) c.65+2T>A c.*488T>A (n.*488T>A) c.468+2T>A (n.468+2T>A) n.2782T>A c.422T>A (p.Val141Glu) c.432+2T>A (n.432+2T>A) c.155T>A (p.Val52Glu) c.-129+2T>A (n.-129+2T>A) | |
X | g.154031395C>A | CA415174943 | MECP2 | c.433G>T (p.Val145Leu) c.469G>T (p.Val157Leu) c.65+1G>T c.*487G>T (n.*487G>T) c.468+1G>T (n.468+1G>T) n.2781G>T c.421G>T (p.Val141Leu) c.432+1G>T (n.432+1G>T) c.154G>T (p.Val52Leu) c.-129+1G>T (n.-129+1G>T) | gnomAD v4 |
X | g.154031395C>G | CA415174944 | MECP2 | c.433G>C (p.Val145Leu) c.469G>C (p.Val157Leu) c.65+1G>C c.*487G>C (n.*487G>C) c.468+1G>C (n.468+1G>C) n.2781G>C c.421G>C (p.Val141Leu) c.432+1G>C (n.432+1G>C) c.154G>C (p.Val52Leu) c.-129+1G>C (n.-129+1G>C) | |
X | g.154031395C>T | CA415174945 | MECP2 | c.433G>A (p.Val145Ile) c.469G>A (p.Val157Ile) c.65+1G>A c.*487G>A (n.*487G>A) c.468+1G>A (n.468+1G>A) n.2781G>A c.421G>A (p.Val141Ile) c.432+1G>A (n.432+1G>A) c.154G>A (p.Val52Ile) c.-129+1G>A (n.-129+1G>A) | |
X | g.154031396C>A | CA415174946 | MECP2 | c.432G>T (p.Lys144Asn) c.468G>T (p.Lys156Asn) c.65G>T c.*486G>T (n.*486G>T) n.2780G>T c.420G>T (p.Lys140Asn) c.153G>T (p.Lys51Asn) c.-129G>T (n.-129G>T) | |
X | g.154031396C>G | CA415174947 | MECP2 | c.432G>C (p.Lys144Asn) c.468G>C (p.Lys156Asn) c.65G>C c.*486G>C (n.*486G>C) n.2780G>C c.420G>C (p.Lys140Asn) c.153G>C (p.Lys51Asn) c.-129G>C (n.-129G>C) | |
X | g.154031396C>T | CA519705671 | MECP2 | c.432G>A (p.Lys144=) c.468G>A (p.Lys156=) c.65G>A c.*486G>A (n.*486G>A) n.2780G>A c.420G>A (p.Lys140=) c.153G>A (p.Lys51=) c.-129G>A (n.-129G>A) | |
X | g.154031396_154031397delinsCT | CA2466571013 | MECP2 | c.431_432delinsAG (p.Lys144=) c.467_468delinsAG (p.Lys156=) c.64_65delinsAG c.*485_*486delinsAG (n.*485_*486delinsAG) n.2779_2780delinsAG c.419_420delinsAG (p.Lys140=) c.152_153delinsAG (p.Lys51=) c.-130_-129delinsAG (n.-130_-129delinsAG) | |
X | g.154031397T>A | CA415174950 | MECP2 | c.431A>T (p.Lys144Met) c.467A>T (p.Lys156Met) c.64A>T c.*485A>T (n.*485A>T) n.2779A>T c.419A>T (p.Lys140Met) c.152A>T (p.Lys51Met) c.-130A>T (n.-130A>T) | |
X | g.154031397T>C | CA199462 | MECP2 | c.431A>G (p.Lys144Arg) c.467A>G (p.Lys156Arg) c.64A>G c.*485A>G (n.*485A>G) n.2779A>G c.419A>G (p.Lys140Arg) c.152A>G (p.Lys51Arg) c.-130A>G (n.-130A>G) | ClinVar dbSNP |
X | g.154031397T>G | CA415174956 | MECP2 | c.431A>C (p.Lys144Thr) c.467A>C (p.Lys156Thr) c.64A>C c.*485A>C (n.*485A>C) n.2779A>C c.419A>C (p.Lys140Thr) c.152A>C (p.Lys51Thr) c.-130A>C (n.-130A>C) | |
X | g.154031397T= | CA2466571014 | MECP2 | c.431A= (p.Lys144=) c.467A= (p.Lys156=) c.64A= c.*485A= (n.*485A=) n.2779A= c.419A= (p.Lys140=) c.152A= (p.Lys51=) c.-130A= (n.-130A=) | |
X | g.154031400del | CA270418 | MECP2 | c.431del (p.Lys144ArgfsTer2) c.467del (p.Lys156ArgfsTer2) c.64del c.*485del (n.*485del) c.467del (p.Lys156SerfsTer?) n.2779del c.419del (p.Lys140ArgfsTer2) c.431del (p.Lys144SerfsTer?) c.152del (p.Lys51ArgfsTer2) c.-130del (n.-130del) | ClinVar dbSNP |
X | g.154031398T>A | CA270415 | MECP2 | c.430A>T (p.Lys144Ter) c.466A>T (p.Lys156Ter) c.63A>T c.*484A>T (n.*484A>T) n.2778A>T c.418A>T (p.Lys140Ter) c.151A>T (p.Lys51Ter) c.-131A>T (n.-131A>T) | ClinVar dbSNP |
X | g.154031398T>C | CA415174967 | MECP2 | c.430A>G (p.Lys144Glu) c.466A>G (p.Lys156Glu) c.63A>G c.*484A>G (n.*484A>G) n.2778A>G c.418A>G (p.Lys140Glu) c.151A>G (p.Lys51Glu) c.-131A>G (n.-131A>G) | |
X | g.154031398T>G | CA415174963 | MECP2 | c.430A>C (p.Lys144Gln) c.466A>C (p.Lys156Gln) c.63A>C c.*484A>C (n.*484A>C) n.2778A>C c.418A>C (p.Lys140Gln) c.151A>C (p.Lys51Gln) c.-131A>C (n.-131A>C) | |
X | g.154031398T= | CA2466571015 | MECP2 | c.430A= (p.Lys144=) c.466A= (p.Lys156=) c.63A= c.*484A= (n.*484A=) n.2778A= c.418A= (p.Lys140=) c.151A= (p.Lys51=) c.-131A= (n.-131A=) | |
X | g.154031399T>A | CA415174977 | MECP2 | c.429A>T (p.Glu143Asp) c.465A>T (p.Glu155Asp) c.62A>T c.*483A>T (n.*483A>T) n.2777A>T c.417A>T (p.Glu139Asp) c.150A>T (p.Glu50Asp) c.-132A>T (n.-132A>T) | |
X | g.154031399T>C | CA519705672 | MECP2 | c.429A>G (p.Glu143=) c.465A>G (p.Glu155=) c.62A>G c.*483A>G (n.*483A>G) n.2777A>G c.417A>G (p.Glu139=) c.150A>G (p.Glu50=) c.-132A>G (n.-132A>G) | ClinVar dbSNP |
X | g.154031399T>G | CA415174978 | MECP2 | c.429A>C (p.Glu143Asp) c.465A>C (p.Glu155Asp) c.62A>C c.*483A>C (n.*483A>C) n.2777A>C c.417A>C (p.Glu139Asp) c.150A>C (p.Glu50Asp) c.-132A>C (n.-132A>C) | |
X | g.154031399T= | CA2466571016 | MECP2 | c.429A= (p.Glu143=) c.465A= (p.Glu155=) c.62A= c.*483A= (n.*483A=) n.2777A= c.417A= (p.Glu139=) c.150A= (p.Glu50=) c.-132A= (n.-132A=) | |
X | g.154031399_154031400insA | CA270414 | MECP2 | c.428_429insT (p.Glu143AspfsTer11) c.464_465insT (p.Glu155AspfsTer11) c.61_62insT c.*482_*483insT (n.*482_*483insT) c.464_465insT (p.Glu155AspfsTer?) n.2776_2777insT c.416_417insT (p.Glu139AspfsTer11) c.428_429insT (p.Glu143AspfsTer?) c.149_150insT (p.Glu50AspfsTer11) c.-133_-132insT (n.-133_-132insT) | ClinVar dbSNP |
X | g.154031400T>A | CA415174994 | MECP2 | c.428A>T (p.Glu143Val) c.464A>T (p.Glu155Val) c.61A>T c.*482A>T (n.*482A>T) n.2776A>T c.416A>T (p.Glu139Val) c.149A>T (p.Glu50Val) c.-133A>T (n.-133A>T) | |
X | g.154031400T>C | CA415175002 | MECP2 | c.428A>G (p.Glu143Gly) c.464A>G (p.Glu155Gly) c.61A>G c.*482A>G (n.*482A>G) n.2776A>G c.416A>G (p.Glu139Gly) c.149A>G (p.Glu50Gly) c.-133A>G (n.-133A>G) | ClinVar dbSNP gnomAD v4 |
X | g.154031400T>G | CA415175004 | MECP2 | c.428A>C (p.Glu143Ala) c.464A>C (p.Glu155Ala) c.61A>C c.*482A>C (n.*482A>C) n.2776A>C c.416A>C (p.Glu139Ala) c.149A>C (p.Glu50Ala) c.-133A>C (n.-133A>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.154031400T= | CA2466571017 | MECP2 | c.428A= (p.Glu143=) c.464A= (p.Glu155=) c.61A= c.*482A= (n.*482A=) n.2776A= c.416A= (p.Glu139=) c.149A= (p.Glu50=) c.-133A= (n.-133A=) | |
X | g.154031401C>A | CA415175013 | MECP2 | c.427G>T (p.Glu143Ter) c.463G>T (p.Glu155Ter) c.60G>T c.*481G>T (n.*481G>T) n.2775G>T c.415G>T (p.Glu139Ter) c.148G>T (p.Glu50Ter) c.-134G>T (n.-134G>T) | |
X | g.154031401C= | CA2466571018 | MECP2 | c.427G= (p.Glu143=) c.463G= (p.Glu155=) c.60G= c.*481G= (n.*481G=) n.2775G= c.415G= (p.Glu139=) c.148G= (p.Glu50=) c.-134G= (n.-134G=) | |
X | g.154031401C>G | CA415175016 | MECP2 | c.427G>C (p.Glu143Gln) c.463G>C (p.Glu155Gln) c.60G>C c.*481G>C (n.*481G>C) n.2775G>C c.415G>C (p.Glu139Gln) c.148G>C (p.Glu50Gln) c.-134G>C (n.-134G>C) | |
X | g.154031401C>T | CA415175019 | MECP2 | c.427G>A (p.Glu143Lys) c.463G>A (p.Glu155Lys) c.60G>A c.*481G>A (n.*481G>A) n.2775G>A c.415G>A (p.Glu139Lys) c.148G>A (p.Glu50Lys) c.-134G>A (n.-134G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
X | g.154031402G>A | CA148313 | MECP2 | c.426C>T (p.Phe142=) c.462C>T (p.Phe154=) c.59C>T c.*480C>T (n.*480C>T) n.2774C>T c.414C>T (p.Phe138=) c.147C>T (p.Phe49=) c.-135C>T (n.-135C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154031402G>C | CA415175023 | MECP2 | c.426C>G (p.Phe142Leu) c.462C>G (p.Phe154Leu) c.59C>G c.*480C>G (n.*480C>G) n.2774C>G c.414C>G (p.Phe138Leu) c.147C>G (p.Phe49Leu) c.-135C>G (n.-135C>G) | ClinVar dbSNP |
X | g.154031402G= | CA2466571019 | MECP2 | c.426C= (p.Phe142=) c.462C= (p.Phe154=) c.59C= c.*480C= (n.*480C=) n.2774C= c.414C= (p.Phe138=) c.147C= (p.Phe49=) c.-135C= (n.-135C=) | |
X | g.154031402G>T | CA415175021 | MECP2 | c.426C>A (p.Phe142Leu) c.462C>A (p.Phe154Leu) c.59C>A c.*480C>A (n.*480C>A) n.2774C>A c.414C>A (p.Phe138Leu) c.147C>A (p.Phe49Leu) c.-135C>A (n.-135C>A) | |
X | g.154031403A>C | CA415175027 | MECP2 | c.425T>G (p.Phe142Cys) c.461T>G (p.Phe154Cys) c.58T>G c.*479T>G (n.*479T>G) n.2773T>G c.413T>G (p.Phe138Cys) c.146T>G (p.Phe49Cys) c.-136T>G (n.-136T>G) | |
X | g.154031403A>G | CA415175031 | MECP2 | c.425T>C (p.Phe142Ser) c.461T>C (p.Phe154Ser) c.58T>C c.*479T>C (n.*479T>C) n.2773T>C c.413T>C (p.Phe138Ser) c.146T>C (p.Phe49Ser) c.-136T>C (n.-136T>C) | |
X | g.154031403A>T | CA415175037 | MECP2 | c.425T>A (p.Phe142Tyr) c.461T>A (p.Phe154Tyr) c.58T>A c.*479T>A (n.*479T>A) n.2773T>A c.413T>A (p.Phe138Tyr) c.146T>A (p.Phe49Tyr) c.-136T>A (n.-136T>A) | |
X | g.154031404A>C | CA415175039 | MECP2 | c.424T>G (p.Phe142Val) c.460T>G (p.Phe154Val) c.57T>G c.*478T>G (n.*478T>G) n.2772T>G c.412T>G (p.Phe138Val) c.145T>G (p.Phe49Val) c.-137T>G (n.-137T>G) | |
X | g.154031404A>G | CA415175042 | MECP2 | c.424T>C (p.Phe142Leu) c.460T>C (p.Phe154Leu) c.57T>C c.*478T>C (n.*478T>C) n.2772T>C c.412T>C (p.Phe138Leu) c.145T>C (p.Phe49Leu) c.-137T>C (n.-137T>C) | |
X | g.154031404A>T | CA415175044 | MECP2 | c.424T>A (p.Phe142Ile) c.460T>A (p.Phe154Ile) c.57T>A c.*478T>A (n.*478T>A) n.2772T>A c.412T>A (p.Phe138Ile) c.145T>A (p.Phe49Ile) c.-137T>A (n.-137T>A) | |
X | g.154031405G>A | CA519705681 | MECP2 | c.423C>T (p.Tyr141=) c.459C>T (p.Tyr153=) c.56C>T c.*477C>T (n.*477C>T) n.2771C>T c.411C>T (p.Tyr137=) c.144C>T (p.Tyr48=) c.-138C>T (n.-138C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.154031405G>C | CA121710 | MECP2 | c.423C>G (p.Tyr141Ter) c.459C>G (p.Tyr153Ter) c.56C>G c.*477C>G (n.*477C>G) n.2771C>G c.411C>G (p.Tyr137Ter) c.144C>G (p.Tyr48Ter) c.-138C>G (n.-138C>G) | ClinVar dbSNP |
X | g.154031405G= | CA2466571020 | MECP2 | c.423C= (p.Tyr141=) c.459C= (p.Tyr153=) c.56C= c.*477C= (n.*477C=) n.2771C= c.411C= (p.Tyr137=) c.144C= (p.Tyr48=) c.-138C= (n.-138C=) | |
X | g.154031405G>T | CA337264499 | MECP2 | c.423C>A (p.Tyr141Ter) c.459C>A (p.Tyr153Ter) c.56C>A c.*477C>A (n.*477C>A) n.2771C>A c.411C>A (p.Tyr137Ter) c.144C>A (p.Tyr48Ter) c.-138C>A (n.-138C>A) | ClinVar dbSNP |
X | g.154031406T>A | CA415175062 | MECP2 | c.422A>T (p.Tyr141Phe) c.458A>T (p.Tyr153Phe) c.55A>T c.*476A>T (n.*476A>T) n.2770A>T c.410A>T (p.Tyr137Phe) c.143A>T (p.Tyr48Phe) c.-139A>T (n.-139A>T) | |
X | g.154031406T>C | CA270411 | MECP2 | c.422A>G (p.Tyr141Cys) c.458A>G (p.Tyr153Cys) c.55A>G c.*476A>G (n.*476A>G) n.2770A>G c.410A>G (p.Tyr137Cys) c.143A>G (p.Tyr48Cys) c.-139A>G (n.-139A>G) | ClinVar dbSNP |
X | g.154031406T>G | CA415175066 | MECP2 | c.422A>C (p.Tyr141Ser) c.458A>C (p.Tyr153Ser) c.55A>C c.*476A>C (n.*476A>C) n.2770A>C c.410A>C (p.Tyr137Ser) c.143A>C (p.Tyr48Ser) c.-139A>C (n.-139A>C) | |
X | g.154031406T= | CA2466571021 | MECP2 | c.422A= (p.Tyr141=) c.458A= (p.Tyr153=) c.55A= c.*476A= (n.*476A=) n.2770A= c.410A= (p.Tyr137=) c.143A= (p.Tyr48=) c.-139A= (n.-139A=) | |
X | g.154031406dup | CA232965 | MECP2 | c.422dup (p.Tyr141Ter) c.458dup (p.Tyr153Ter) c.55dup c.*476dup (n.*476dup) n.2770dup c.410dup (p.Tyr137Ter) c.143dup (p.Tyr48Ter) c.-139dup (n.-139dup) | ClinVar dbSNP |
X | g.154031407A>C | CA415175073 | MECP2 | c.421T>G (p.Tyr141Asp) c.457T>G (p.Tyr153Asp) c.54T>G c.*475T>G (n.*475T>G) n.2769T>G c.409T>G (p.Tyr137Asp) c.142T>G (p.Tyr48Asp) c.-140T>G (n.-140T>G) | |
X | g.154031407A>G | CA415175071 | MECP2 | c.421T>C (p.Tyr141His) c.457T>C (p.Tyr153His) c.54T>C c.*475T>C (n.*475T>C) n.2769T>C c.409T>C (p.Tyr137His) c.142T>C (p.Tyr48His) c.-140T>C (n.-140T>C) | |
X | g.154031407A>T | CA415175069 | MECP2 | c.421T>A (p.Tyr141Asn) c.457T>A (p.Tyr153Asn) c.54T>A c.*475T>A (n.*475T>A) n.2769T>A c.409T>A (p.Tyr137Asn) c.142T>A (p.Tyr48Asn) c.-140T>A (n.-140T>A) | |
X | g.154031407_154031408delinsAC | CA2466571022 | MECP2 | c.420_421delinsGT (p.Ala140=) c.456_457delinsGT (p.Ala152=) c.53_54delinsGT c.*474_*475delinsGT (n.*474_*475delinsGT) n.2768_2769delinsGT c.408_409delinsGT (p.Ala136=) c.141_142delinsGT (p.Ala47=) c.-141_-140delinsGT (n.-141_-140delinsGT) | |
X | g.154031408del | CA270410 | MECP2 | c.420del (p.Tyr141ThrfsTer5) c.456del (p.Tyr153ThrfsTer5) c.53del c.*474del (n.*474del) c.456del (p.Tyr153ThrfsTer?) n.2768del c.408del (p.Tyr137ThrfsTer5) c.420del (p.Tyr141ThrfsTer?) c.141del (p.Tyr48ThrfsTer5) c.-141del (n.-141del) | ClinVar dbSNP |
X | g.154031408C>A | CA10558608 | MECP2 | c.420G>T (p.Ala140=) c.456G>T (p.Ala152=) c.53G>T c.*474G>T (n.*474G>T) n.2768G>T c.408G>T (p.Ala136=) c.141G>T (p.Ala47=) c.-141G>T (n.-141G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154031408C= | CA2466571023 | MECP2 | c.420G= (p.Ala140=) c.456G= (p.Ala152=) c.53G= c.*474G= (n.*474G=) n.2768G= c.408G= (p.Ala136=) c.141G= (p.Ala47=) c.-141G= (n.-141G=) | |
X | g.154031408C>G | CA519705686 | MECP2 | c.420G>C (p.Ala140=) c.456G>C (p.Ala152=) c.53G>C c.*474G>C (n.*474G>C) n.2768G>C c.408G>C (p.Ala136=) c.141G>C (p.Ala47=) c.-141G>C (n.-141G>C) | gnomAD v4 |
X | g.154031408C>T | CA10558609 | MECP2 | c.420G>A (p.Ala140=) c.456G>A (p.Ala152=) c.53G>A c.*474G>A (n.*474G>A) n.2768G>A c.408G>A (p.Ala136=) c.141G>A (p.Ala47=) c.-141G>A (n.-141G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154031409G>A | CA121703 | MECP2 | c.419C>T (p.Ala140Val) c.455C>T (p.Ala152Val) c.52C>T c.*473C>T (n.*473C>T) n.2767C>T c.407C>T (p.Ala136Val) c.140C>T (p.Ala47Val) c.-142C>T (n.-142C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
X | g.154031409G>C | CA415175084 | MECP2 | c.419C>G (p.Ala140Gly) c.455C>G (p.Ala152Gly) c.52C>G c.*473C>G (n.*473C>G) n.2767C>G c.407C>G (p.Ala136Gly) c.140C>G (p.Ala47Gly) c.-142C>G (n.-142C>G) | |
X | g.154031409G= | CA2466571024 | MECP2 | c.419C= (p.Ala140=) c.455C= (p.Ala152=) c.52C= c.*473C= (n.*473C=) n.2767C= c.407C= (p.Ala136=) c.140C= (p.Ala47=) c.-142C= (n.-142C=) | |
X | g.154031409G>T | CA10558610 | MECP2 | c.419C>A (p.Ala140Glu) c.455C>A (p.Ala152Glu) c.52C>A c.*473C>A (n.*473C>A) n.2767C>A c.407C>A (p.Ala136Glu) c.140C>A (p.Ala47Glu) c.-142C>A (n.-142C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154031410C>A | CA415175092 | MECP2 | c.418G>T (p.Ala140Ser) c.454G>T (p.Ala152Ser) c.51G>T c.*472G>T (n.*472G>T) n.2766G>T c.406G>T (p.Ala136Ser) c.139G>T (p.Ala47Ser) c.-143G>T (n.-143G>T) | |
X | g.154031410C>G | CA415175096 | MECP2 | c.418G>C (p.Ala140Pro) c.454G>C (p.Ala152Pro) c.51G>C c.*472G>C (n.*472G>C) n.2766G>C c.406G>C (p.Ala136Pro) c.139G>C (p.Ala47Pro) c.-143G>C (n.-143G>C) | |
X | g.154031410C>T | CA415175113 | MECP2 | c.418G>A (p.Ala140Thr) c.454G>A (p.Ala152Thr) c.51G>A c.*472G>A (n.*472G>A) n.2766G>A c.406G>A (p.Ala136Thr) c.139G>A (p.Ala47Thr) c.-143G>A (n.-143G>A) | |
X | g.154031413_154031416dup | CA2695237613 | MECP2 | c.415_418dup (p.Ala140AspfsTer15) c.451_454dup (p.Ala152AspfsTer15) c.48_51dup c.*469_*472dup (n.*469_*472dup) c.451_454dup (p.Ala152AspfsTer?) n.2763_2766dup c.403_406dup (p.Ala136AspfsTer15) c.415_418dup (p.Ala140AspfsTer?) c.136_139dup (p.Ala47AspfsTer15) c.-146_-143dup (n.-146_-143dup) | |
X | g.154031411A>C | CA415175117 | MECP2 | c.417T>G (p.Ile139Met) c.453T>G (p.Ile151Met) c.50T>G c.*471T>G (n.*471T>G) n.2765T>G c.405T>G (p.Ile135Met) c.138T>G (p.Ile46Met) c.-144T>G (n.-144T>G) | |
X | g.154031411A>G | CA519705688 | MECP2 | c.417T>C (p.Ile139=) c.453T>C (p.Ile151=) c.50T>C c.*471T>C (n.*471T>C) n.2765T>C c.405T>C (p.Ile135=) c.138T>C (p.Ile46=) c.-144T>C (n.-144T>C) | |
X | g.154031411A>T | CA519705690 | MECP2 | c.417T>A (p.Ile139=) c.453T>A (p.Ile151=) c.50T>A c.*471T>A (n.*471T>A) n.2765T>A c.405T>A (p.Ile135=) c.138T>A (p.Ile46=) c.-144T>A (n.-144T>A) | |
X | g.154031412A>C | CA415175118 | MECP2 | c.416T>G (p.Ile139Ser) c.452T>G (p.Ile151Ser) c.49T>G c.*470T>G (n.*470T>G) n.2764T>G c.404T>G (p.Ile135Ser) c.137T>G (p.Ile46Ser) c.-145T>G (n.-145T>G) | |
X | g.154031412A>G | CA415175119 | MECP2 | c.416T>C (p.Ile139Thr) c.452T>C (p.Ile151Thr) c.49T>C c.*470T>C (n.*470T>C) n.2764T>C c.404T>C (p.Ile135Thr) c.137T>C (p.Ile46Thr) c.-145T>C (n.-145T>C) | |
X | g.154031412A>T | CA415175120 | MECP2 | c.416T>A (p.Ile139Asn) c.452T>A (p.Ile151Asn) c.49T>A c.*470T>A (n.*470T>A) n.2764T>A c.404T>A (p.Ile135Asn) c.137T>A (p.Ile46Asn) c.-145T>A (n.-145T>A) | |
X | g.154031413T>A | CA415175122 | MECP2 | c.415A>T (p.Ile139Phe) c.451A>T (p.Ile151Phe) c.48A>T c.*469A>T (n.*469A>T) n.2763A>T c.403A>T (p.Ile135Phe) c.136A>T (p.Ile46Phe) c.-146A>T (n.-146A>T) | |
X | g.154031413T>C | CA415175125 | MECP2 | c.415A>G (p.Ile139Val) c.451A>G (p.Ile151Val) c.48A>G c.*469A>G (n.*469A>G) n.2763A>G c.403A>G (p.Ile135Val) c.136A>G (p.Ile46Val) c.-146A>G (n.-146A>G) | |
X | g.154031413T>G | CA415175121 | MECP2 | c.415A>C (p.Ile139Leu) c.451A>C (p.Ile151Leu) c.48A>C c.*469A>C (n.*469A>C) n.2763A>C c.403A>C (p.Ile135Leu) c.136A>C (p.Ile46Leu) c.-146A>C (n.-146A>C) | |
X | g.154031414C>A | CA415175141 | MECP2 | c.414G>T (p.Leu138Phe) c.450G>T (p.Leu150Phe) c.47G>T c.*468G>T (n.*468G>T) n.2762G>T c.402G>T (p.Leu134Phe) c.135G>T (p.Leu45Phe) c.-147G>T (n.-147G>T) | |
X | g.154031414C>G | CA415175143 | MECP2 | c.414G>C (p.Leu138Phe) c.450G>C (p.Leu150Phe) c.47G>C c.*468G>C (n.*468G>C) n.2762G>C c.402G>C (p.Leu134Phe) c.135G>C (p.Leu45Phe) c.-147G>C (n.-147G>C) | ClinVar |
X | g.154031414C>T | CA519705693 | MECP2 | c.414G>A (p.Leu138=) c.450G>A (p.Leu150=) c.47G>A c.*468G>A (n.*468G>A) n.2762G>A c.402G>A (p.Leu134=) c.135G>A (p.Leu45=) c.-147G>A (n.-147G>A) | |
X | g.154031415A= | CA2466571025 | MECP2 | c.413T= (p.Leu138=) c.449T= (p.Leu150=) c.46T= c.*467T= (n.*467T=) n.2761T= c.401T= (p.Leu134=) c.134T= (p.Leu45=) c.-148T= (n.-148T=) | |
X | g.154031415A>C | CA415175148 | MECP2 | c.413T>G (p.Leu138Trp) c.449T>G (p.Leu150Trp) c.46T>G c.*467T>G (n.*467T>G) n.2761T>G c.401T>G (p.Leu134Trp) c.134T>G (p.Leu45Trp) c.-148T>G (n.-148T>G) | |
X | g.154031415A>G | CA270407 | MECP2 | c.413T>C (p.Leu138Ser) c.449T>C (p.Leu150Ser) c.46T>C c.*467T>C (n.*467T>C) n.2761T>C c.401T>C (p.Leu134Ser) c.134T>C (p.Leu45Ser) c.-148T>C (n.-148T>C) | ClinVar dbSNP |
X | g.154031415A>T | CA270404 | MECP2 | c.413T>A (p.Leu138Ter) c.449T>A (p.Leu150Ter) c.46T>A c.*467T>A (n.*467T>A) n.2761T>A c.401T>A (p.Leu134Ter) c.134T>A (p.Leu45Ter) c.-148T>A (n.-148T>A) | ClinVar dbSNP |
X | g.154031416A>C | CA415175149 | MECP2 | c.412T>G (p.Leu138Val) c.448T>G (p.Leu150Val) c.45T>G c.*466T>G (n.*466T>G) n.2760T>G c.400T>G (p.Leu134Val) c.133T>G (p.Leu45Val) c.-149T>G (n.-149T>G) | |
X | g.154031416A>G | CA519705699 | MECP2 | c.412T>C (p.Leu138=) c.448T>C (p.Leu150=) c.45T>C c.*466T>C (n.*466T>C) n.2760T>C c.400T>C (p.Leu134=) c.133T>C (p.Leu45=) c.-149T>C (n.-149T>C) | |
X | g.154031416A>T | CA415175150 | MECP2 | c.412T>A (p.Leu138Met) c.448T>A (p.Leu150Met) c.45T>A c.*466T>A (n.*466T>A) n.2760T>A c.400T>A (p.Leu134Met) c.133T>A (p.Leu45Met) c.-149T>A (n.-149T>A) | |
X | g.154031416_154031417delinsAC | CA2466571026 | MECP2 | c.411_412delinsGT (p.Glu137=) c.447_448delinsGT (p.Glu149=) c.44_45delinsGT c.*465_*466delinsGT (n.*465_*466delinsGT) n.2759_2760delinsGT c.399_400delinsGT (p.Glu133=) c.132_133delinsGT (p.Glu44=) c.-150_-149delinsGT (n.-150_-149delinsGT) | |
X | g.154031417del | CA270403 | MECP2 | c.411del (p.Glu137AspfsTer2) c.447del (p.Glu149AspfsTer2) c.44del c.*465del (n.*465del) n.2759del c.399del (p.Glu133AspfsTer2) c.132del (p.Glu44AspfsTer2) c.-150del (n.-150del) | ClinVar dbSNP |
X | g.154031417C>A | CA415175151 | MECP2 | c.411G>T (p.Glu137Asp) c.447G>T (p.Glu149Asp) c.44G>T c.*465G>T (n.*465G>T) n.2759G>T c.399G>T (p.Glu133Asp) c.132G>T (p.Glu44Asp) c.-150G>T (n.-150G>T) | |
X | g.154031417C>G | CA415175152 | MECP2 | c.411G>C (p.Glu137Asp) c.447G>C (p.Glu149Asp) c.44G>C c.*465G>C (n.*465G>C) n.2759G>C c.399G>C (p.Glu133Asp) c.132G>C (p.Glu44Asp) c.-150G>C (n.-150G>C) | |
X | g.154031417C>T | CA519705702 | MECP2 | c.411G>A (p.Glu137=) c.447G>A (p.Glu149=) c.44G>A c.*465G>A (n.*465G>A) n.2759G>A c.399G>A (p.Glu133=) c.132G>A (p.Glu44=) c.-150G>A (n.-150G>A) | dbSNP |
X | g.154031418T>A | CA415175166 | MECP2 | c.410A>T (p.Glu137Val) c.446A>T (p.Glu149Val) c.43A>T c.*464A>T (n.*464A>T) n.2758A>T c.398A>T (p.Glu133Val) c.131A>T (p.Glu44Val) c.-151A>T (n.-151A>T) | |
X | g.154031418T>C | CA121705 | MECP2 | c.410A>G (p.Glu137Gly) c.446A>G (p.Glu149Gly) c.43A>G c.*464A>G (n.*464A>G) n.2758A>G c.398A>G (p.Glu133Gly) c.131A>G (p.Glu44Gly) c.-151A>G (n.-151A>G) | ClinVar dbSNP gnomAD v4 |
X | g.154031418T>G | CA415175157 | MECP2 | c.410A>C (p.Glu137Ala) c.446A>C (p.Glu149Ala) c.43A>C c.*464A>C (n.*464A>C) n.2758A>C c.398A>C (p.Glu133Ala) c.131A>C (p.Glu44Ala) c.-151A>C (n.-151A>C) | |
X | g.154031418T= | CA2466571027 | MECP2 | c.410A= (p.Glu137=) c.446A= (p.Glu149=) c.43A= c.*464A= (n.*464A=) n.2758A= c.398A= (p.Glu133=) c.131A= (p.Glu44=) c.-151A= (n.-151A=) | |
X | g.154031419C>A | CA415175171 | MECP2 | c.409G>T (p.Glu137Ter) c.445G>T (p.Glu149Ter) c.42G>T c.*463G>T (n.*463G>T) n.2757G>T c.397G>T (p.Glu133Ter) c.130G>T (p.Glu44Ter) c.-152G>T (n.-152G>T) | |
X | g.154031419C>G | CA415175175 | MECP2 | c.409G>C (p.Glu137Gln) c.445G>C (p.Glu149Gln) c.42G>C c.*463G>C (n.*463G>C) n.2757G>C c.397G>C (p.Glu133Gln) c.130G>C (p.Glu44Gln) c.-152G>C (n.-152G>C) | ClinVar gnomAD v4 |
X | g.154031419C>T | CA415175183 | MECP2 | c.409G>A (p.Glu137Lys) c.445G>A (p.Glu149Lys) c.42G>A c.*463G>A (n.*463G>A) n.2757G>A c.397G>A (p.Glu133Lys) c.130G>A (p.Glu44Lys) c.-152G>A (n.-152G>A) | |
X | g.154031420C>A | CA519705707 | MECP2 | c.408G>T (p.Val136=) c.444G>T (p.Val148=) c.41G>T c.*462G>T (n.*462G>T) n.2756G>T c.396G>T (p.Val132=) c.129G>T (p.Val43=) c.-153G>T (n.-153G>T) | |
X | g.154031420C= | CA2466571028 | MECP2 | c.408G= (p.Val136=) c.444G= (p.Val148=) c.41G= c.*462G= (n.*462G=) n.2756G= c.396G= (p.Val132=) c.129G= (p.Val43=) c.-153G= (n.-153G=) | |
X | g.154031420C>G | CA519705709 | MECP2 | c.408G>C (p.Val136=) c.444G>C (p.Val148=) c.41G>C c.*462G>C (n.*462G>C) n.2756G>C c.396G>C (p.Val132=) c.129G>C (p.Val43=) c.-153G>C (n.-153G>C) | |
X | g.154031420C>T | CA519705710 | MECP2 | c.408G>A (p.Val136=) c.444G>A (p.Val148=) c.41G>A c.*462G>A (n.*462G>A) n.2756G>A c.396G>A (p.Val132=) c.129G>A (p.Val43=) c.-153G>A (n.-153G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154031421A>C | CA415175195 | MECP2 | c.407T>G (p.Val136Gly) c.443T>G (p.Val148Gly) c.40T>G c.*461T>G (n.*461T>G) n.2755T>G c.395T>G (p.Val132Gly) c.128T>G (p.Val43Gly) c.-154T>G (n.-154T>G) | |
X | g.154031421A>G | CA415175196 | MECP2 | c.407T>C (p.Val136Ala) c.443T>C (p.Val148Ala) c.40T>C c.*461T>C (n.*461T>C) n.2755T>C c.395T>C (p.Val132Ala) c.128T>C (p.Val43Ala) c.-154T>C (n.-154T>C) | |
X | g.154031421A>T | CA415175197 | MECP2 | c.407T>A (p.Val136Glu) c.443T>A (p.Val148Glu) c.40T>A c.*461T>A (n.*461T>A) n.2755T>A c.395T>A (p.Val132Glu) c.128T>A (p.Val43Glu) c.-154T>A (n.-154T>A) | |
X | g.154031422C>A | CA415175198 | MECP2 | c.406G>T (p.Val136Leu) c.442G>T (p.Val148Leu) c.39G>T c.*460G>T (n.*460G>T) n.2754G>T c.394G>T (p.Val132Leu) c.127G>T (p.Val43Leu) c.-155G>T (n.-155G>T) | |
X | g.154031422C>G | CA415175202 | MECP2 | c.406G>C (p.Val136Leu) c.442G>C (p.Val148Leu) c.39G>C c.*460G>C (n.*460G>C) n.2754G>C c.394G>C (p.Val132Leu) c.127G>C (p.Val43Leu) c.-155G>C (n.-155G>C) | |
X | g.154031422C>T | CA415175209 | MECP2 | c.406G>A (p.Val136Met) c.442G>A (p.Val148Met) c.39G>A c.*460G>A (n.*460G>A) n.2754G>A c.394G>A (p.Val132Met) c.127G>A (p.Val43Met) c.-155G>A (n.-155G>A) | gnomAD v4 |
X | g.154031423T>A | CA415175214 | MECP2 | c.405A>T (p.Lys135Asn) c.441A>T (p.Lys147Asn) c.38A>T c.*459A>T (n.*459A>T) n.2753A>T c.393A>T (p.Lys131Asn) c.126A>T (p.Lys42Asn) c.-156A>T (n.-156A>T) | |
X | g.154031423T>C | CA519705717 | MECP2 | c.405A>G (p.Lys135=) c.441A>G (p.Lys147=) c.38A>G c.*459A>G (n.*459A>G) n.2753A>G c.393A>G (p.Lys131=) c.126A>G (p.Lys42=) c.-156A>G (n.-156A>G) | |
X | g.154031423T>G | CA415175219 | MECP2 | c.405A>C (p.Lys135Asn) c.441A>C (p.Lys147Asn) c.38A>C c.*459A>C (n.*459A>C) n.2753A>C c.393A>C (p.Lys131Asn) c.126A>C (p.Lys42Asn) c.-156A>C (n.-156A>C) | ClinVar |
X | g.154031424T>A | CA415175222 | MECP2 | c.404A>T (p.Lys135Ile) c.440A>T (p.Lys147Ile) c.37A>T c.*458A>T (n.*458A>T) n.2752A>T c.392A>T (p.Lys131Ile) c.125A>T (p.Lys42Ile) c.-157A>T (n.-157A>T) | |
X | g.154031424T>C | CA415175229 | MECP2 | c.404A>G (p.Lys135Arg) c.440A>G (p.Lys147Arg) c.37A>G c.*458A>G (n.*458A>G) n.2752A>G c.392A>G (p.Lys131Arg) c.125A>G (p.Lys42Arg) c.-157A>G (n.-157A>G) | |
X | g.154031424T>G | CA415175225 | MECP2 | c.404A>C (p.Lys135Thr) c.440A>C (p.Lys147Thr) c.37A>C c.*458A>C (n.*458A>C) n.2752A>C c.392A>C (p.Lys131Thr) c.125A>C (p.Lys42Thr) c.-157A>C (n.-157A>C) | ClinVar |
X | g.154031425T>A | CA415175235 | MECP2 | c.403A>T (p.Lys135Ter) c.439A>T (p.Lys147Ter) c.36A>T c.*457A>T (n.*457A>T) n.2751A>T c.391A>T (p.Lys131Ter) c.124A>T (p.Lys42Ter) c.-158A>T (n.-158A>T) | |
X | g.154031425T>C | CA270401 | MECP2 | c.403A>G (p.Lys135Glu) c.439A>G (p.Lys147Glu) c.36A>G c.*457A>G (n.*457A>G) n.2751A>G c.391A>G (p.Lys131Glu) c.124A>G (p.Lys42Glu) c.-158A>G (n.-158A>G) | ClinVar dbSNP |
X | g.154031425T>G | CA415175238 | MECP2 | c.403A>C (p.Lys135Gln) c.439A>C (p.Lys147Gln) c.36A>C c.*457A>C (n.*457A>C) n.2751A>C c.391A>C (p.Lys131Gln) c.124A>C (p.Lys42Gln) c.-158A>C (n.-158A>C) | |
X | g.154031425T= | CA2466571029 | MECP2 | c.403A= (p.Lys135=) c.439A= (p.Lys147=) c.36A= c.*457A= (n.*457A=) n.2751A= c.391A= (p.Lys131=) c.124A= (p.Lys42=) c.-158A= (n.-158A=) | |
X | g.154031426A>C | CA519705718 | MECP2 | c.402T>G (p.Ser134=) c.438T>G (p.Ser146=) c.35T>G c.*456T>G (n.*456T>G) n.2750T>G c.390T>G (p.Ser130=) c.123T>G (p.Ser41=) c.-159T>G (n.-159T>G) | |
X | g.154031426A>G | CA519705719 | MECP2 | c.402T>C (p.Ser134=) c.438T>C (p.Ser146=) c.35T>C c.*456T>C (n.*456T>C) n.2750T>C c.390T>C (p.Ser130=) c.123T>C (p.Ser41=) c.-159T>C (n.-159T>C) | ClinVar gnomAD v4 |
X | g.154031426A>T | CA519705720 | MECP2 | c.402T>A (p.Ser134=) c.438T>A (p.Ser146=) c.35T>A c.*456T>A (n.*456T>A) n.2750T>A c.390T>A (p.Ser130=) c.123T>A (p.Ser41=) c.-159T>A (n.-159T>A) | |
X | g.154031427G>A | CA270398 | MECP2 | c.401C>T (p.Ser134Phe) c.437C>T (p.Ser146Phe) c.34C>T c.*455C>T (n.*455C>T) n.2749C>T c.389C>T (p.Ser130Phe) c.122C>T (p.Ser41Phe) c.-160C>T (n.-160C>T) | ClinVar dbSNP |
X | g.154031427G>C | CA270396 | MECP2 | c.401C>G (p.Ser134Cys) c.437C>G (p.Ser146Cys) c.34C>G c.*455C>G (n.*455C>G) n.2749C>G c.389C>G (p.Ser130Cys) c.122C>G (p.Ser41Cys) c.-160C>G (n.-160C>G) | ClinVar dbSNP |
X | g.154031427G= | CA2466571030 | MECP2 | c.401C= (p.Ser134=) c.437C= (p.Ser146=) c.34C= c.*455C= (n.*455C=) n.2749C= c.389C= (p.Ser130=) c.122C= (p.Ser41=) c.-160C= (n.-160C=) | |
X | g.154031427G>T | CA415175243 | MECP2 | c.401C>A (p.Ser134Tyr) c.437C>A (p.Ser146Tyr) c.34C>A c.*455C>A (n.*455C>A) n.2749C>A c.389C>A (p.Ser130Tyr) c.122C>A (p.Ser41Tyr) c.-160C>A (n.-160C>A) | |
X | g.154031428A= | CA2466571031 | MECP2 | c.400T= (p.Ser134=) c.436T= (p.Ser146=) c.33T= c.*454T= (n.*454T=) n.2748T= c.388T= (p.Ser130=) c.121T= (p.Ser41=) c.-161T= (n.-161T=) | |
X | g.154031428A>C | CA415175244 | MECP2 | c.400T>G (p.Ser134Ala) c.436T>G (p.Ser146Ala) c.33T>G c.*454T>G (n.*454T>G) n.2748T>G c.388T>G (p.Ser130Ala) c.121T>G (p.Ser41Ala) c.-161T>G (n.-161T>G) | |
X | g.154031428A>G | CA270393 | MECP2 | c.400T>C (p.Ser134Pro) c.436T>C (p.Ser146Pro) c.33T>C c.*454T>C (n.*454T>C) n.2748T>C c.388T>C (p.Ser130Pro) c.121T>C (p.Ser41Pro) c.-161T>C (n.-161T>C) | ClinVar dbSNP |
X | g.154031428A>T | CA415175251 | MECP2 | c.400T>A (p.Ser134Thr) c.436T>A (p.Ser146Thr) c.33T>A c.*454T>A (n.*454T>A) n.2748T>A c.388T>A (p.Ser130Thr) c.121T>A (p.Ser41Thr) c.-161T>A (n.-161T>A) | |
X | g.154031429G>A | CA519705728 | MECP2 | c.399C>T (p.Arg133=) c.435C>T (p.Arg145=) c.32C>T c.*453C>T (n.*453C>T) n.2747C>T c.387C>T (p.Arg129=) c.120C>T (p.Arg40=) c.-162C>T (n.-162C>T) | ClinVar dbSNP gnomAD v4 |
X | g.154031429G>C | CA10558611 | MECP2 | c.399C>G (p.Arg133=) c.435C>G (p.Arg145=) c.32C>G c.*453C>G (n.*453C>G) n.2747C>G c.387C>G (p.Arg129=) c.120C>G (p.Arg40=) c.-162C>G (n.-162C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154031429G= | CA2466571032 | MECP2 | c.399C= (p.Arg133=) c.435C= (p.Arg145=) c.32C= c.*453C= (n.*453C=) n.2747C= c.387C= (p.Arg129=) c.120C= (p.Arg40=) c.-162C= (n.-162C=) | |
X | g.154031429G>T | CA519705730 | MECP2 | c.399C>A (p.Arg133=) c.435C>A (p.Arg145=) c.32C>A c.*453C>A (n.*453C>A) n.2747C>A c.387C>A (p.Arg129=) c.120C>A (p.Arg40=) c.-162C>A (n.-162C>A) | |
X | g.154031430C>A | CA270390 | MECP2 | c.398G>T (p.Arg133Leu) c.434G>T (p.Arg145Leu) c.31G>T c.*452G>T (n.*452G>T) n.2746G>T c.386G>T (p.Arg129Leu) c.119G>T (p.Arg40Leu) c.-163G>T (n.-163G>T) | ClinVar dbSNP |
X | g.154031430C= | CA2466571033 | MECP2 | c.398G= (p.Arg133=) c.434G= (p.Arg145=) c.31G= c.*452G= (n.*452G=) n.2746G= c.386G= (p.Arg129=) c.119G= (p.Arg40=) c.-163G= (n.-163G=) | |
X | g.154031430C>G | CA415175270 | MECP2 | c.398G>C (p.Arg133Pro) c.434G>C (p.Arg145Pro) c.31G>C c.*452G>C (n.*452G>C) n.2746G>C c.386G>C (p.Arg129Pro) c.119G>C (p.Arg40Pro) c.-163G>C (n.-163G>C) | ClinVar dbSNP |
X | g.154031430C>T | CA274538 | MECP2 | c.398G>A (p.Arg133His) c.434G>A (p.Arg145His) c.31G>A c.*452G>A (n.*452G>A) n.2746G>A c.386G>A (p.Arg129His) c.119G>A (p.Arg40His) c.-163G>A (n.-163G>A) | ClinVar dbSNP COSMIC |
X | g.154031431G>A | CA211250 | MECP2 | c.397C>T (p.Arg133Cys) c.433C>T (p.Arg145Cys) c.30C>T c.*451C>T (n.*451C>T) n.2745C>T c.385C>T (p.Arg129Cys) c.118C>T (p.Arg40Cys) c.-164C>T (n.-164C>T) | ClinVar dbSNP |
X | g.154031431G>C | CA270387 | MECP2 | c.397C>G (p.Arg133Gly) c.433C>G (p.Arg145Gly) c.30C>G c.*451C>G (n.*451C>G) n.2745C>G c.385C>G (p.Arg129Gly) c.118C>G (p.Arg40Gly) c.-164C>G (n.-164C>G) | ClinVar dbSNP |
X | g.154031431G= | CA2466571034 | MECP2 | c.397C= (p.Arg133=) c.433C= (p.Arg145=) c.30C= c.*451C= (n.*451C=) n.2745C= c.385C= (p.Arg129=) c.118C= (p.Arg40=) c.-164C= (n.-164C=) | |
X | g.154031431G>T | CA415175306 | MECP2 | c.397C>A (p.Arg133Ser) c.433C>A (p.Arg145Ser) c.30C>A c.*451C>A (n.*451C>A) n.2745C>A c.385C>A (p.Arg129Ser) c.118C>A (p.Arg40Ser) c.-164C>A (n.-164C>A) | ClinVar dbSNP |
X | g.154031432A>C | CA415175310 | MECP2 | c.396T>G (p.Phe132Leu) c.432T>G (p.Phe144Leu) c.29T>G c.*450T>G (n.*450T>G) n.2744T>G c.384T>G (p.Phe128Leu) c.117T>G (p.Phe39Leu) c.-165T>G (n.-165T>G) | |
X | g.154031432A>G | CA519705733 | MECP2 | c.396T>C (p.Phe132=) c.432T>C (p.Phe144=) c.29T>C c.*450T>C (n.*450T>C) n.2744T>C c.384T>C (p.Phe128=) c.117T>C (p.Phe39=) c.-165T>C (n.-165T>C) | dbSNP |
X | g.154031432A>T | CA415175316 | MECP2 | c.396T>A (p.Phe132Leu) c.432T>A (p.Phe144Leu) c.29T>A c.*450T>A (n.*450T>A) n.2744T>A c.384T>A (p.Phe128Leu) c.117T>A (p.Phe39Leu) c.-165T>A (n.-165T>A) | |
X | g.154031433A>C | CA415175318 | MECP2 | c.395T>G (p.Phe132Cys) c.431T>G (p.Phe144Cys) c.28T>G c.*449T>G (n.*449T>G) n.2743T>G c.383T>G (p.Phe128Cys) c.116T>G (p.Phe39Cys) c.-166T>G (n.-166T>G) | |
X | g.154031433A>G | CA415175323 | MECP2 | c.395T>C (p.Phe132Ser) c.431T>C (p.Phe144Ser) c.28T>C c.*449T>C (n.*449T>C) n.2743T>C c.383T>C (p.Phe128Ser) c.116T>C (p.Phe39Ser) c.-166T>C (n.-166T>C) | |
X | g.154031433A>T | CA415175321 | MECP2 | c.395T>A (p.Phe132Tyr) c.431T>A (p.Phe144Tyr) c.28T>A c.*449T>A (n.*449T>A) n.2743T>A c.383T>A (p.Phe128Tyr) c.116T>A (p.Phe39Tyr) c.-166T>A (n.-166T>A) | |
X | g.154031434A>C | CA415175326 | MECP2 | c.394T>G (p.Phe132Val) c.430T>G (p.Phe144Val) c.27T>G c.*448T>G (n.*448T>G) n.2742T>G c.382T>G (p.Phe128Val) c.115T>G (p.Phe39Val) c.-167T>G (n.-167T>G) | |
X | g.154031434A>G | CA415175328 | MECP2 | c.394T>C (p.Phe132Leu) c.430T>C (p.Phe144Leu) c.27T>C c.*448T>C (n.*448T>C) n.2742T>C c.382T>C (p.Phe128Leu) c.115T>C (p.Phe39Leu) c.-167T>C (n.-167T>C) | |
X | g.154031434A>T | CA415175338 | MECP2 | c.394T>A (p.Phe132Ile) c.430T>A (p.Phe144Ile) c.27T>A c.*448T>A (n.*448T>A) n.2742T>A c.382T>A (p.Phe128Ile) c.115T>A (p.Phe39Ile) c.-167T>A (n.-167T>A) | |
X | g.154031435G>A | CA10558612 | MECP2 | c.393C>T (p.Ala131=) c.429C>T (p.Ala143=) c.26C>T c.*447C>T (n.*447C>T) n.2741C>T c.381C>T (p.Ala127=) c.114C>T (p.Ala38=) c.-168C>T (n.-168C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154031435G>C | CA170296 | MECP2 | c.393C>G (p.Ala131=) c.429C>G (p.Ala143=) c.26C>G c.*447C>G (n.*447C>G) n.2741C>G c.381C>G (p.Ala127=) c.114C>G (p.Ala38=) c.-168C>G (n.-168C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.154031435G= | CA2466571035 | MECP2 | c.393C= (p.Ala131=) c.429C= (p.Ala143=) c.26C= c.*447C= (n.*447C=) n.2741C= c.381C= (p.Ala127=) c.114C= (p.Ala38=) c.-168C= (n.-168C=) | |
X | g.154031435G>T | CA519705737 | MECP2 | c.393C>A (p.Ala131=) c.429C>A (p.Ala143=) c.26C>A c.*447C>A (n.*447C>A) n.2741C>A c.381C>A (p.Ala127=) c.114C>A (p.Ala38=) c.-168C>A (n.-168C>A) | ClinVar |
X | g.154031436G>A | CA415175348 | MECP2 | c.392C>T (p.Ala131Val) c.428C>T (p.Ala143Val) c.25C>T c.*446C>T (n.*446C>T) n.2740C>T c.380C>T (p.Ala127Val) c.113C>T (p.Ala38Val) c.-169C>T (n.-169C>T) | |
X | g.154031436G>C | CA415175349 | MECP2 | c.392C>G (p.Ala131Gly) c.428C>G (p.Ala143Gly) c.25C>G c.*446C>G (n.*446C>G) n.2740C>G c.380C>G (p.Ala127Gly) c.113C>G (p.Ala38Gly) c.-169C>G (n.-169C>G) | |
X | g.154031436G= | CA2466571036 | MECP2 | c.392C= (p.Ala131=) c.428C= (p.Ala143=) c.25C= c.*446C= (n.*446C=) n.2740C= c.380C= (p.Ala127=) c.113C= (p.Ala38=) c.-169C= (n.-169C=) | |
X | g.154031436G>T | CA270384 | MECP2 | c.392C>A (p.Ala131Asp) c.428C>A (p.Ala143Asp) c.25C>A c.*446C>A (n.*446C>A) n.2740C>A c.380C>A (p.Ala127Asp) c.113C>A (p.Ala38Asp) c.-169C>A (n.-169C>A) | ClinVar dbSNP |
X | g.154031437C>A | CA415175353 | MECP2 | c.391G>T (p.Ala131Ser) c.427G>T (p.Ala143Ser) c.24G>T c.*445G>T (n.*445G>T) n.2739G>T c.379G>T (p.Ala127Ser) c.112G>T (p.Ala38Ser) c.-170G>T (n.-170G>T) | dbSNP |
X | g.154031437C= | CA2466571038 | MECP2 | c.391G= (p.Ala131=) c.427G= (p.Ala143=) c.24G= c.*445G= (n.*445G=) n.2739G= c.379G= (p.Ala127=) c.112G= (p.Ala38=) c.-170G= (n.-170G=) | |
X | g.154031437C>G | CA415175357 | MECP2 | c.391G>C (p.Ala131Pro) c.427G>C (p.Ala143Pro) c.24G>C c.*445G>C (n.*445G>C) n.2739G>C c.379G>C (p.Ala127Pro) c.112G>C (p.Ala38Pro) c.-170G>C (n.-170G>C) | ClinVar |
X | g.154031437C>T | CA415175360 | MECP2 | c.391G>A (p.Ala131Thr) c.427G>A (p.Ala143Thr) c.24G>A c.*445G>A (n.*445G>A) n.2739G>A c.379G>A (p.Ala127Thr) c.112G>A (p.Ala38Thr) c.-170G>A (n.-170G>A) | |
X | g.154031437dup | CA519705742 | MECP2 | c.391dup (p.Ala131GlyfsTer5) c.427dup (p.Ala143GlyfsTer5) c.24dup c.*445dup (n.*445dup) n.2739dup c.379dup (p.Ala127GlyfsTer5) c.112dup (p.Ala38GlyfsTer5) c.-170dup (n.-170dup) | |
X | g.154031437_154031438delinsCT | CA2466571037 | MECP2 | c.390_391delinsAG (p.Lys130=) c.426_427delinsAG (p.Lys142=) c.23_24delinsAG c.*444_*445delinsAG (n.*444_*445delinsAG) n.2738_2739delinsAG c.378_379delinsAG (p.Lys126=) c.111_112delinsAG (p.Lys37=) c.-171_-170delinsAG (n.-171_-170delinsAG) | |
X | g.154031438T>A | CA415175364 | MECP2 | c.390A>T (p.Lys130Asn) c.426A>T (p.Lys142Asn) c.23A>T c.*444A>T (n.*444A>T) n.2738A>T c.378A>T (p.Lys126Asn) c.111A>T (p.Lys37Asn) c.-171A>T (n.-171A>T) | |
X | g.154031438T>C | CA519705743 | MECP2 | c.390A>G (p.Lys130=) c.426A>G (p.Lys142=) c.23A>G c.*444A>G (n.*444A>G) n.2738A>G c.378A>G (p.Lys126=) c.111A>G (p.Lys37=) c.-171A>G (n.-171A>G) | |
X | g.154031438T>G | CA415175365 | MECP2 | c.390A>C (p.Lys130Asn) c.426A>C (p.Lys142Asn) c.23A>C c.*444A>C (n.*444A>C) n.2738A>C c.378A>C (p.Lys126Asn) c.111A>C (p.Lys37Asn) c.-171A>C (n.-171A>C) | |
X | g.154031441dup | CA2695202119 | MECP2 | c.390dup (p.Ala131SerfsTer5) c.426dup (p.Ala143SerfsTer5) c.23dup c.*444dup (n.*444dup) n.2738dup c.378dup (p.Ala127SerfsTer5) c.111dup (p.Ala38SerfsTer5) c.-171dup (n.-171dup) | ClinVar |
X | g.154031441del | CA274842 | MECP2 | c.390del (p.Ala131ProfsTer8) c.426del (p.Ala143ProfsTer8) c.23del c.*444del (n.*444del) n.2738del c.378del (p.Ala127ProfsTer8) c.111del (p.Ala38ProfsTer8) c.-171del (n.-171del) | ClinVar dbSNP |
X | g.154031440_154031441del | CA2695237618 | MECP2 | c.389_390del (p.Lys130SerfsTer5) c.425_426del (p.Lys142SerfsTer5) c.22_23del c.*443_*444del (n.*443_*444del) n.2737_2738del c.377_378del (p.Lys126SerfsTer5) c.110_111del (p.Lys37SerfsTer5) c.-172_-171del (n.-172_-171del) | |
X | g.154031439T>A | CA415175367 | MECP2 | c.389A>T (p.Lys130Ile) c.425A>T (p.Lys142Ile) c.22A>T c.*443A>T (n.*443A>T) n.2737A>T c.377A>T (p.Lys126Ile) c.110A>T (p.Lys37Ile) c.-172A>T (n.-172A>T) | |
X | g.154031439T>C | CA415175370 | MECP2 | c.389A>G (p.Lys130Arg) c.425A>G (p.Lys142Arg) c.22A>G c.*443A>G (n.*443A>G) n.2737A>G c.377A>G (p.Lys126Arg) c.110A>G (p.Lys37Arg) c.-172A>G (n.-172A>G) | |
X | g.154031439T>G | CA415175374 | MECP2 | c.389A>C (p.Lys130Thr) c.425A>C (p.Lys142Thr) c.22A>C c.*443A>C (n.*443A>C) n.2737A>C c.377A>C (p.Lys126Thr) c.110A>C (p.Lys37Thr) c.-172A>C (n.-172A>C) | |
X | g.154031440T>A | CA415175377 | MECP2 | c.388A>T (p.Lys130Ter) c.424A>T (p.Lys142Ter) c.21A>T c.*442A>T (n.*442A>T) n.2736A>T c.376A>T (p.Lys126Ter) c.109A>T (p.Lys37Ter) c.-173A>T (n.-173A>T) | |
X | g.154031440T>C | CA415175379 | MECP2 | c.388A>G (p.Lys130Glu) c.424A>G (p.Lys142Glu) c.21A>G c.*442A>G (n.*442A>G) n.2736A>G c.376A>G (p.Lys126Glu) c.109A>G (p.Lys37Glu) c.-173A>G (n.-173A>G) | ClinVar |
X | g.154031440T>G | CA415175381 | MECP2 | c.388A>C (p.Lys130Gln) c.424A>C (p.Lys142Gln) c.21A>C c.*442A>C (n.*442A>C) n.2736A>C c.376A>C (p.Lys126Gln) c.109A>C (p.Lys37Gln) c.-173A>C (n.-173A>C) |