| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154030255_154037279delinsCACAAAGTG | CA274580 | MECP2 | c.27-4722_*112delinsCACTTTGTG c.63-4722_*112delinsCACTTTGTG c.27-4722_*39delinsCACTTTGTG c.27-4722_*945delinsCACTTTGTG c.-253-4722_*112delinsCACTTTGTG c.-254+2513_*112delinsCACTTTGTG c.-535+2513_*112delinsCACTTTGTG c.-534-4722_*112delinsCACTTTGTG | ClinVar |
| X | g.154030367_154031450del | CA274586 | MECP2 | c.378_1461del (p.Pro127PhefsTer24) c.414_1497del (p.Pro139PhefsTer24) c.378_1457del c.378_*833del c.99_1182del (p.Pro34PhefsTer24) c.-183_792del | ClinVar |
| X | g.154030546_154032241del | CA2695202122 | MECP2 | c.343_1282del c.379_1318del c.343_*654del c.64_1003del c.-218_613del | |
| X | g.154030587_154034485del | CA1139667874 | MECP2 | c.27-1928_1241del c.63-1928_1277del c.27-1928_*613del c.-253-1928_962del c.-534-1928_572del | ClinVar |
| X | g.154030593_154038357del | CA2499226465 | MECP2 | c.27-5800_1235del c.63-5800_1271del c.27-5800_*607del c.-253-5800_956del c.-254+1435_956del c.-535+1435_566del c.-534-5800_566del | ClinVar |
| X | g.154030617_154032283del | CA2573159384 | MECP2 | c.301_1211del c.337_1247del c.337_*583del c.301_*583del c.22_932del c.-260_542del | ClinVar |
| X | g.154030623_154032653del | CA274584 | MECP2 | c.27-94_1207del c.63-94_1243del c.63-94_*579del c.27-94_*579del c.-253-94_928del c.-534-94_538del | ClinVar |
| X | g.154030638_154031249del | CA2573159363 | MECP2 | c.580_1191del (p.Ser194_Glu397del) c.616_1227del (p.Ser206_Glu409del) c.507_*563del (n.[c.507_*563del;Ala170ThrfsTer?]) c.471_*563del (n.[c.471_*563del;Ala158ThrfsTer11]) c.301_912del (p.Ser101_Glu304del) c.-90_522del | ClinVar dbSNP |
| X | g.154030638_154038772del | CA274583 | MECP2 | c.27-6214_1191del c.63-6214_1227del c.63-6214_*563del c.27-6214_*563del c.-253-6214_912del c.-254+1021_912del c.-535+1021_522del c.-534-6214_522del | ClinVar |
| X | g.154030638_154031340delinsTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCC | CA2466570378 | MECP2 | c.488_1190delinsGGAGCCCCTCCCGGCGAGAGCAGAAACCACCTAAGAAGCCCAAATCTCCCAAAGCTCCAGGAACTGGCAGAGGCCGGGGACGCCCCAAAGGGAGCGGCACCACGAGACCCAAGGCGGCCACGTCAGAGGGTGTGCAGGTGAAAAGGGTCCTGGAGAAAAGTCCTGGGAAGCTCCTTGTCAAGATGCCTTTTCAAACTTCGCCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCAGGAAGCGAAAAGCTGAGGCCGACCCTCAGGCCATTCCCAAGAAACGGGGCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGA (p.Gly163=) c.524_1226delinsGGAGCCCCTCCCGGCGAGAGCAGAAACCACCTAAGAAGCCCAAATCTCCCAAAGCTCCAGGAACTGGCAGAGGCCGGGGACGCCCCAAAGGGAGCGGCACCACGAGACCCAAGGCGGCCACGTCAGAGGGTGTGCAGGTGAAAAGGGTCCTGGAGAAAAGTCCTGGGAAGCTCCTTGTCAAGATGCCTTTTCAAACTTCGCCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCAGGAAGCGAAAAGCTGAGGCCGACCCTCAGGCCATTCCCAAGAAACGGGGCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGA (p.Gly175=) c.469-54_*562delinsGGAGCCCCTCCCGGCGAGAGCAGAAACCACCTAAGAAGCCCAAATCTCCCAAAGCTCCAGGAACTGGCAGAGGCCGGGGACGCCCCAAAGGGAGCGGCACCACGAGACCCAAGGCGGCCACGTCAGAGGGTGTGCAGGTGAAAAGGGTCCTGGAGAAAAGTCCTGGGAAGCTCCTTGTCAAGATGCCTTTTCAAACTTCGCCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCAGGAAGCGAAAAGCTGAGGCCGACCCTCAGGCCATTCCCAAGAAACGGGGCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGA c.433-54_*562delinsGGAGCCCCTCCCGGCGAGAGCAGAAACCACCTAAGAAGCCCAAATCTCCCAAAGCTCCAGGAACTGGCAGAGGCCGGGGACGCCCCAAAGGGAGCGGCACCACGAGACCCAAGGCGGCCACGTCAGAGGGTGTGCAGGTGAAAAGGGTCCTGGAGAAAAGTCCTGGGAAGCTCCTTGTCAAGATGCCTTTTCAAACTTCGCCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCAGGAAGCGAAAAGCTGAGGCCGACCCTCAGGCCATTCCCAAGAAACGGGGCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGA c.209_911delinsGGAGCCCCTCCCGGCGAGAGCAGAAACCACCTAAGAAGCCCAAATCTCCCAAAGCTCCAGGAACTGGCAGAGGCCGGGGACGCCCCAAAGGGAGCGGCACCACGAGACCCAAGGCGGCCACGTCAGAGGGTGTGCAGGTGAAAAGGGTCCTGGAGAAAAGTCCTGGGAAGCTCCTTGTCAAGATGCCTTTTCAAACTTCGCCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCAGGAAGCGAAAAGCTGAGGCCGACCCTCAGGCCATTCCCAAGAAACGGGGCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGA (p.Gly70=) c.-128-54_521delinsGGAGCCCCTCCCGGCGAGAGCAGAAACCACCTAAGAAGCCCAAATCTCCCAAAGCTCCAGGAACTGGCAGAGGCCGGGGACGCCCCAAAGGGAGCGGCACCACGAGACCCAAGGCGGCCACGTCAGAGGGTGTGCAGGTGAAAAGGGTCCTGGAGAAAAGTCCTGGGAAGCTCCTTGTCAAGATGCCTTTTCAAACTTCGCCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCAGGAAGCGAAAAGCTGAGGCCGACCCTCAGGCCATTCCCAAGAAACGGGGCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGA | |
| X | g.154030638_154038583delinsAC | CA274582 | MECP2 | c.27-6026_1190delinsGT c.63-6026_1226delinsGT c.63-6026_*562delinsGT c.27-6026_*562delinsGT c.-253-6026_911delinsGT c.-254+1209_911delinsGT c.-535+1209_521delinsGT c.-534-6026_521delinsGT | ClinVar |
| X | g.154030640_154031341del | CA274591 | MECP2 | c.488_1189del (p.Gly163_Ser396del) c.524_1225del (p.Gly175_Ser408del) c.469-54_*561del c.433-54_*561del c.209_910del (p.Gly70_Ser303del) c.-128-54_520del | ClinVar dbSNP |
| X | g.154030639_154031446del | CA274587 | MECP2 | c.382_1189del (p.Gln128ArgfsTer12) c.418_1225del (p.Gln140ArgfsTer12) c.418_*561del c.382_*561del c.103_910del (p.Gln35ArgfsTer12) c.-179_520del | ClinVar |
| X | g.154030646_154036487del | CA274579 | MECP2 | c.27-3928_1184del c.63-3928_1220del c.63-3928_*556del c.27-3928_*556del c.-253-3928_905del c.-254+3307_905del c.-535+3307_515del c.-534-3928_515del | ClinVar |
| X | g.154030646_154032241del | CA915952020 | MECP2 | c.343_1182del c.379_1218del c.379_*554del c.343_*554del c.64_903del c.-218_513del | |
| X | g.154030660_154031387del | CA2573334949 | MECP2 | c.444_1171del (p.Ser149Ter) c.480_1207del (p.Ser161Ter) c.468+12_*543del c.432+12_*543del c.165_892del (p.Ser56Ter) c.-129+12_502del | |
| X | g.154030663_154037047del | CA916084238 | MECP2 | c.27-4487_1168del c.63-4487_1204del c.63-4487_*540del c.27-4487_*540del c.-253-4487_889del c.-254+2748_889del c.-535+2748_499del c.-534-4487_499del | ClinVar |
| X | g.154030665_154031373delinsACGCA | CA2580101841 | MECP2 | c.455_1163delinsTGCGT (p.Pro152LeufsTer6) c.491_1199delinsTGCGT (p.Pro164LeufsTer6) c.468+23_*535delinsTGCGT c.432+23_*535delinsTGCGT c.176_884delinsTGCGT (p.Pro59LeufsTer6) c.-129+23_494delinsTGCGT | ClinVar |
| X | g.154030672_154039641del | CA1139667883 | MECP2 | c.27-7080_1160del c.63-7080_1196del c.63-7080_*532del c.27-7080_*532del c.-253-7080_881del c.-254+155_881del c.-535+155_491del c.-534-7080_491del | ClinVar |
| X | g.154030672_154031421del | CA274588 | MECP2 | c.409_1158del (p.Glu137_Leu386del) c.445_1194del (p.Glu149_Leu398del) c.445_*530del c.409_*530del c.130_879del (p.Glu44_Leu293del) c.-152_489del | ClinVar |
| X | g.154030690_154038335del | CA915952024 | MECP2 | c.27-5778_1138del c.63-5778_1174del c.63-5778_*510del c.27-5778_*510del c.-253-5778_859del c.-254+1457_859del c.-535+1457_469del c.-534-5778_469del | ClinVar |
| X | g.154030700_154032236del | CA915952025 | MECP2 | c.348_1128del c.384_1164del c.384_*500del c.348_*500del c.69_849del c.-213_459del | |
| X | g.154030753_154031305delinsCG | CA198826 | MECP2 | c.523_1075delinsCG (p.Lys175ArgfsTer?) c.559_1111delinsCG (p.Lys187ArgfsTer?) c.469-19_*447delinsCG c.433-19_*447delinsCG c.244_796delinsCG (p.Lys82ArgfsTer?) c.-128-19_406delinsCG | |
| X | g.154030777_154032630del | CA915952026 | MECP2 | c.27-73_1051del c.63-73_1087del c.63-73_*423del c.27-73_*423del c.-253-73_772del c.-534-73_382del | ClinVar |
| X | g.154030926_154038331delinsTGACATCAGTCCGGGCAC | CA274581 | MECP2 | c.27-5774_902delinsGTGCCCGGACTGATGTCA c.63-5774_938delinsGTGCCCGGACTGATGTCA c.63-5774_*274delinsGTGCCCGGACTGATGTCA c.15-5774_888delinsGTGCCCGGACTGATGTCA c.27-5774_*274delinsGTGCCCGGACTGATGTCA c.-253-5774_623delinsGTGCCCGGACTGATGTCA c.-254+1461_623delinsGTGCCCGGACTGATGTCA c.-535+1461_233delinsGTGCCCGGACTGATGTCA c.-534-5774_233delinsGTGCCCGGACTGATGTCA | ClinVar |
| X | g.154031200_154031254del | CA2697544872 | MECP2 | c.580_634del (p.Gly195TrpfsTer?) c.616_670del (p.Gly207TrpfsTer?) c.65+148_65+202del c.507_*6del (n.[c.507_*6del;Ala170ProfsTer23]) c.568_622del (p.Gly191TrpfsTer?) c.471_*6del (n.[c.471_*6del;Ala158ProfsTer23]) c.301_355del (p.Gly102TrpfsTer?) c.-90_-36del (n.-90_-36del) | ClinVar |
| X | g.154031247C>A | CA415173290 | MECP2 | c.581G>T (p.Ser194Ile) c.617G>T (p.Ser206Ile) c.65+149G>T c.508G>T (p.Ala170Ser) c.569G>T (p.Ser190Ile) c.472G>T (p.Ala158Ser) c.302G>T (p.Ser101Ile) c.-89G>T (n.-89G>T) | |
| X | g.154031247C>G | CA415173292 | MECP2 | c.581G>C (p.Ser194Thr) c.617G>C (p.Ser206Thr) c.65+149G>C c.508G>C (p.Ala170Pro) c.569G>C (p.Ser190Thr) c.472G>C (p.Ala158Pro) c.302G>C (p.Ser101Thr) c.-89G>C (n.-89G>C) | |
| X | g.154031247C>T | CA415173294 | MECP2 | c.581G>A (p.Ser194Asn) c.617G>A (p.Ser206Asn) c.65+149G>A c.508G>A (p.Ala170Thr) c.569G>A (p.Ser190Asn) c.472G>A (p.Ala158Thr) c.302G>A (p.Ser101Asn) c.-89G>A (n.-89G>A) | |
| X | g.154031248T>A | CA415173300 | MECP2 | c.580A>T (p.Ser194Cys) c.616A>T (p.Ser206Cys) c.65+148A>T c.507A>T (p.Gly169=) c.568A>T (p.Ser190Cys) c.471A>T (p.Gly157=) c.301A>T (p.Ser101Cys) c.-90A>T (n.-90A>T) | |
| X | g.154031248T>C | CA415173301 | MECP2 | c.580A>G (p.Ser194Gly) c.616A>G (p.Ser206Gly) c.65+148A>G c.507A>G (p.Gly169=) c.568A>G (p.Ser190Gly) c.471A>G (p.Gly157=) c.301A>G (p.Ser101Gly) c.-90A>G (n.-90A>G) | |
| X | g.154031248T>G | CA415173303 | MECP2 | c.580A>C (p.Ser194Arg) c.616A>C (p.Ser206Arg) c.65+148A>C c.507A>C (p.Gly169=) c.568A>C (p.Ser190Arg) c.471A>C (p.Gly157=) c.301A>C (p.Ser101Arg) c.-90A>C (n.-90A>C) | |
| X | g.154031249C>A | CA415173315 | MECP2 | c.579G>T (p.Gly193=) c.615G>T (p.Gly205=) c.65+147G>T c.506G>T (p.Gly169Val) c.567G>T (p.Gly189=) c.470G>T (p.Gly157Val) c.300G>T (p.Gly100=) c.-91G>T (n.-91G>T) | |
| X | g.154031249C>G | CA415173307 | MECP2 | c.579G>C (p.Gly193=) c.615G>C (p.Gly205=) c.65+147G>C c.506G>C (p.Gly169Ala) c.567G>C (p.Gly189=) c.470G>C (p.Gly157Ala) c.300G>C (p.Gly100=) c.-91G>C (n.-91G>C) | |
| X | g.154031249C>T | CA415173313 | MECP2 | c.579G>A (p.Gly193=) c.615G>A (p.Gly205=) c.65+147G>A c.506G>A (p.Gly169Glu) c.567G>A (p.Gly189=) c.470G>A (p.Gly157Glu) c.300G>A (p.Gly100=) c.-91G>A (n.-91G>A) | ClinVar gnomAD v4 |
| X | g.154031250C>A | CA415173317 | MECP2 | c.578G>T (p.Gly193Val) c.614G>T (p.Gly205Val) c.65+146G>T c.505G>T (p.Gly169Ter) c.566G>T (p.Gly189Val) c.469G>T (p.Gly157Ter) c.299G>T (p.Gly100Val) c.-92G>T (n.-92G>T) | |
| X | g.154031250C>G | CA415173320 | MECP2 | c.578G>C (p.Gly193Ala) c.614G>C (p.Gly205Ala) c.65+146G>C c.505G>C (p.Gly169Arg) c.566G>C (p.Gly189Ala) c.469G>C (p.Gly157Arg) c.299G>C (p.Gly100Ala) c.-92G>C (n.-92G>C) | |
| X | g.154031250C>T | CA415173323 | MECP2 | c.578G>A (p.Gly193Glu) c.614G>A (p.Gly205Glu) c.65+146G>A c.505G>A (p.Gly169Arg) c.566G>A (p.Gly189Glu) c.469G>A (p.Gly157Arg) c.299G>A (p.Gly100Glu) c.-92G>A (n.-92G>A) | gnomAD v4 |
| X | g.154031251C>A | CA415173326 | MECP2 | c.577G>T (p.Gly193Trp) c.613G>T (p.Gly205Trp) c.65+145G>T c.504G>T (p.Lys168Asn) c.565G>T (p.Gly189Trp) c.468G>T (p.Lys156Asn) c.298G>T (p.Gly100Trp) c.-93G>T (n.-93G>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154031251C= | CA2466570916 | MECP2 | c.577G= (p.Gly193=) c.613G= (p.Gly205=) c.65+145G= c.504G= (p.Lys168=) c.565G= (p.Gly189=) c.468G= (p.Lys156=) c.298G= (p.Gly100=) c.-93G= (n.-93G=) | |
| X | g.154031251C>G | CA415173328 | MECP2 | c.577G>C (p.Gly193Arg) c.613G>C (p.Gly205Arg) c.65+145G>C c.504G>C (p.Lys168Asn) c.565G>C (p.Gly189Arg) c.468G>C (p.Lys156Asn) c.298G>C (p.Gly100Arg) c.-93G>C (n.-93G>C) | |
| X | g.154031251C>T | CA415173331 | MECP2 | c.577G>A (p.Gly193Arg) c.613G>A (p.Gly205Arg) c.65+145G>A c.504G>A (p.Lys168=) c.565G>A (p.Gly189Arg) c.468G>A (p.Lys156=) c.298G>A (p.Gly100Arg) c.-93G>A (n.-93G>A) | |
| X | g.154031252T>A | CA415173332 | MECP2 | c.576A>T (p.Lys192Asn) c.612A>T (p.Lys204Asn) c.65+144A>T c.503A>T (p.Lys168Met) c.564A>T (p.Lys188Asn) c.467A>T (p.Lys156Met) c.297A>T (p.Lys99Asn) c.-94A>T (n.-94A>T) | |
| X | g.154031252T>C | CA415173333 | MECP2 | c.576A>G (p.Lys192=) c.612A>G (p.Lys204=) c.65+144A>G c.503A>G (p.Lys168Arg) c.564A>G (p.Lys188=) c.467A>G (p.Lys156Arg) c.297A>G (p.Lys99=) c.-94A>G (n.-94A>G) | |
| X | g.154031252T>G | CA415173335 | MECP2 | c.576A>C (p.Lys192Asn) c.612A>C (p.Lys204Asn) c.65+144A>C c.503A>C (p.Lys168Thr) c.564A>C (p.Lys188Asn) c.467A>C (p.Lys156Thr) c.297A>C (p.Lys99Asn) c.-94A>C (n.-94A>C) | |
| X | g.154031253T>A | CA415173346 | MECP2 | c.575A>T (p.Lys192Ile) c.611A>T (p.Lys204Ile) c.65+143A>T c.502A>T (p.Lys168Ter) c.563A>T (p.Lys188Ile) c.466A>T (p.Lys156Ter) c.296A>T (p.Lys99Ile) c.-95A>T (n.-95A>T) | |
| X | g.154031253T>C | CA415173349 | MECP2 | c.575A>G (p.Lys192Arg) c.611A>G (p.Lys204Arg) c.65+143A>G c.502A>G (p.Lys168Glu) c.563A>G (p.Lys188Arg) c.466A>G (p.Lys156Glu) c.296A>G (p.Lys99Arg) c.-95A>G (n.-95A>G) | gnomAD v4 |
| X | g.154031253T>G | CA415173350 | MECP2 | c.575A>C (p.Lys192Thr) c.611A>C (p.Lys204Thr) c.65+143A>C c.502A>C (p.Lys168Gln) c.563A>C (p.Lys188Thr) c.466A>C (p.Lys156Gln) c.296A>C (p.Lys99Thr) c.-95A>C (n.-95A>C) | |
| X | g.154031254T>A | CA260436 | MECP2 | c.574A>T (p.Lys192Ter) c.610A>T (p.Lys204Ter) c.65+142A>T c.501A>T (p.Pro167=) c.562A>T (p.Lys188Ter) c.465A>T (p.Pro155=) c.295A>T (p.Lys99Ter) c.-96A>T (n.-96A>T) | ClinVar dbSNP |
| X | g.154031254T>C | CA415173368 | MECP2 | c.574A>G (p.Lys192Glu) c.610A>G (p.Lys204Glu) c.65+142A>G c.501A>G (p.Pro167=) c.562A>G (p.Lys188Glu) c.465A>G (p.Pro155=) c.295A>G (p.Lys99Glu) c.-96A>G (n.-96A>G) |