| 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.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_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.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.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.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.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.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.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.154032234_154032243delinsGCAGAGCGGC | CA2466571521 | MECP2 | c.341_350delinsGCCGCTCTGC (p.Gly114=) c.377_386delinsGCCGCTCTGC (p.Gly126=) c.*395_*404delinsGCCGCTCTGC (n.*395_*404delinsGCCGCTCTGC) n.2689_2698delinsGCCGCTCTGC c.329_338delinsGCCGCTCTGC (p.Gly110=) c.62_71delinsGCCGCTCTGC (p.Gly21=) c.-220_-211delinsGCCGCTCTGC (n.-220_-211delinsGCCGCTCTGC) | |
| X | g.154032239_154032247del | CA658799902 | MECP2 | c.341_349del (p.Gly114_Ser116del) c.377_385del (p.Gly126_Ser128del) c.*395_*403del (n.*395_*403del) n.2689_2697del c.329_337del (p.Gly110_Ser112del) c.62_70del (p.Gly21_Ser23del) c.-220_-212del (n.-220_-212del) | ClinVar dbSNP |
| X | g.154032241G>A | CA294544 | MECP2 | c.343C>T (p.Arg115Cys) c.379C>T (p.Arg127Cys) c.*397C>T (n.*397C>T) n.2691C>T c.331C>T (p.Arg111Cys) c.64C>T (p.Arg22Cys) c.-218C>T (n.-218C>T) | ClinVar dbSNP gnomAD v4 |
| X | g.154032241G>C | CA415176672 | MECP2 | c.343C>G (p.Arg115Gly) c.379C>G (p.Arg127Gly) c.*397C>G (n.*397C>G) n.2691C>G c.331C>G (p.Arg111Gly) c.64C>G (p.Arg22Gly) c.-218C>G (n.-218C>G) | |
| X | g.154032241G= | CA2466571524 | MECP2 | c.343C= (p.Arg115=) c.379C= (p.Arg127=) c.*397C= (n.*397C=) n.2691C= c.331C= (p.Arg111=) c.64C= (p.Arg22=) c.-218C= (n.-218C=) | |
| X | g.154032241G>T | CA415176663 | MECP2 | c.343C>A (p.Arg115Ser) c.379C>A (p.Arg127Ser) c.*397C>A (n.*397C>A) n.2691C>A c.331C>A (p.Arg111Ser) c.64C>A (p.Arg22Ser) c.-218C>A (n.-218C>A) | |
| X | g.154032242G>A | CA519705254 | MECP2 | c.342C>T (p.Gly114=) c.378C>T (p.Gly126=) c.*396C>T (n.*396C>T) n.2690C>T c.330C>T (p.Gly110=) c.63C>T (p.Gly21=) c.-219C>T (n.-219C>T) | COSMIC |
| X | g.154032242G>C | CA519705255 | MECP2 | c.342C>G (p.Gly114=) c.378C>G (p.Gly126=) c.*396C>G (n.*396C>G) n.2690C>G c.330C>G (p.Gly110=) c.63C>G (p.Gly21=) c.-219C>G (n.-219C>G) | gnomAD v4 |
| X | g.154032242G>T | CA519705256 | MECP2 | c.342C>A (p.Gly114=) c.378C>A (p.Gly126=) c.*396C>A (n.*396C>A) n.2690C>A c.330C>A (p.Gly110=) c.63C>A (p.Gly21=) c.-219C>A (n.-219C>A) | |
| X | g.154032243C>A | CA415176675 | MECP2 | c.341G>T (p.Gly114Val) c.377G>T (p.Gly126Val) c.*395G>T (n.*395G>T) n.2689G>T c.329G>T (p.Gly110Val) c.62G>T (p.Gly21Val) c.-220G>T (n.-220G>T) | |
| X | g.154032243C= | CA2466571525 | MECP2 | c.341G= (p.Gly114=) c.377G= (p.Gly126=) c.*395G= (n.*395G=) n.2689G= c.329G= (p.Gly110=) c.62G= (p.Gly21=) c.-220G= (n.-220G=) | |
| X | g.154032243C>G | CA270359 | MECP2 | c.341G>C (p.Gly114Ala) c.377G>C (p.Gly126Ala) c.*395G>C (n.*395G>C) n.2689G>C c.329G>C (p.Gly110Ala) c.62G>C (p.Gly21Ala) c.-220G>C (n.-220G>C) | ClinVar dbSNP |
| X | g.154032243C>T | CA415176676 | MECP2 | c.341G>A (p.Gly114Asp) c.377G>A (p.Gly126Asp) c.*395G>A (n.*395G>A) n.2689G>A c.329G>A (p.Gly110Asp) c.62G>A (p.Gly21Asp) c.-220G>A (n.-220G>A) | |
| X | g.154032244C>A | CA415176677 | MECP2 | c.340G>T (p.Gly114Cys) c.376G>T (p.Gly126Cys) c.*394G>T (n.*394G>T) n.2688G>T c.328G>T (p.Gly110Cys) c.61G>T (p.Gly21Cys) c.-221G>T (n.-221G>T) | |
| X | g.154032244C>G | CA415176679 | MECP2 | c.340G>C (p.Gly114Arg) c.376G>C (p.Gly126Arg) c.*394G>C (n.*394G>C) n.2688G>C c.328G>C (p.Gly110Arg) c.61G>C (p.Gly21Arg) c.-221G>C (n.-221G>C) | |
| X | g.154032244C>T | CA415176680 | MECP2 | c.340G>A (p.Gly114Ser) c.376G>A (p.Gly126Ser) c.*394G>A (n.*394G>A) n.2688G>A c.328G>A (p.Gly110Ser) c.61G>A (p.Gly21Ser) c.-221G>A (n.-221G>A) | |
| X | g.154032245A= | CA2466571526 | MECP2 | c.339T= (p.Ser113=) c.375T= (p.Ser125=) c.*393T= (n.*393T=) n.2687T= c.327T= (p.Ser109=) c.60T= (p.Ser20=) c.-222T= (n.-222T=) | |
| X | g.154032245A>C | CA519705259 | MECP2 | c.339T>G (p.Ser113=) c.375T>G (p.Ser125=) c.*393T>G (n.*393T>G) n.2687T>G c.327T>G (p.Ser109=) c.60T>G (p.Ser20=) c.-222T>G (n.-222T>G) | |
| X | g.154032245A>G | CA519705260 | MECP2 | c.339T>C (p.Ser113=) c.375T>C (p.Ser125=) c.*393T>C (n.*393T>C) n.2687T>C c.327T>C (p.Ser109=) c.60T>C (p.Ser20=) c.-222T>C (n.-222T>C) | dbSNP |
| X | g.154032245A>T | CA519705261 | MECP2 | c.339T>A (p.Ser113=) c.375T>A (p.Ser125=) c.*393T>A (n.*393T>A) n.2687T>A c.327T>A (p.Ser109=) c.60T>A (p.Ser20=) c.-222T>A (n.-222T>A) | |
| X | g.154032246G>A | CA10558641 | MECP2 | c.338C>T (p.Ser113Phe) c.374C>T (p.Ser125Phe) c.*392C>T (n.*392C>T) n.2686C>T c.326C>T (p.Ser109Phe) c.59C>T (p.Ser20Phe) c.-223C>T (n.-223C>T) | dbSNP ExAC gnomAD v2 |
| X | g.154032246G>C | CA415176682 | MECP2 | c.338C>G (p.Ser113Cys) c.374C>G (p.Ser125Cys) c.*392C>G (n.*392C>G) n.2686C>G c.326C>G (p.Ser109Cys) c.59C>G (p.Ser20Cys) c.-223C>G (n.-223C>G) | |
| X | g.154032246G= | CA2466571527 | MECP2 | c.338C= (p.Ser113=) c.374C= (p.Ser125=) c.*392C= (n.*392C=) n.2686C= c.326C= (p.Ser109=) c.59C= (p.Ser20=) c.-223C= (n.-223C=) | |
| X | g.154032246G>T | CA415176684 | MECP2 | c.338C>A (p.Ser113Tyr) c.374C>A (p.Ser125Tyr) c.*392C>A (n.*392C>A) n.2686C>A c.326C>A (p.Ser109Tyr) c.59C>A (p.Ser20Tyr) c.-223C>A (n.-223C>A) | |
| X | g.154032247A>C | CA415176686 | MECP2 | c.337T>G (p.Ser113Ala) c.373T>G (p.Ser125Ala) c.*391T>G (n.*391T>G) n.2685T>G c.325T>G (p.Ser109Ala) c.58T>G (p.Ser20Ala) c.-224T>G (n.-224T>G) | |
| X | g.154032247A>G | CA415176687 | MECP2 | c.337T>C (p.Ser113Pro) c.373T>C (p.Ser125Pro) c.*391T>C (n.*391T>C) n.2685T>C c.325T>C (p.Ser109Pro) c.58T>C (p.Ser20Pro) c.-224T>C (n.-224T>C) | |
| X | g.154032247A>T | CA415176689 | MECP2 | c.337T>A (p.Ser113Thr) c.373T>A (p.Ser125Thr) c.*391T>A (n.*391T>A) n.2685T>A c.325T>A (p.Ser109Thr) c.58T>A (p.Ser20Thr) c.-224T>A (n.-224T>A) | |
| X | g.154032247dup | CA2695237627 | MECP2 | c.337dup (p.Ser113PhefsTer9) c.373dup (p.Ser125PhefsTer9) c.*391dup (n.*391dup) n.2685dup c.325dup (p.Ser109PhefsTer9) c.58dup (p.Ser20PhefsTer9) c.-224dup (n.-224dup) | |
| X | g.154032248T>A | CA415176692 | MECP2 | c.336A>T (p.Lys112Asn) c.372A>T (p.Lys124Asn) c.*390A>T (n.*390A>T) n.2684A>T c.324A>T (p.Lys108Asn) c.57A>T (p.Lys19Asn) c.-225A>T (n.-225A>T) | |
| X | g.154032248T>C | CA519705266 | MECP2 | c.336A>G (p.Lys112=) c.372A>G (p.Lys124=) c.*390A>G (n.*390A>G) n.2684A>G c.324A>G (p.Lys108=) c.57A>G (p.Lys19=) c.-225A>G (n.-225A>G) | ClinVar dbSNP gnomAD v4 |
| X | g.154032248T>G | CA415176693 | MECP2 | c.336A>C (p.Lys112Asn) c.372A>C (p.Lys124Asn) c.*390A>C (n.*390A>C) n.2684A>C c.324A>C (p.Lys108Asn) c.57A>C (p.Lys19Asn) c.-225A>C (n.-225A>C) | |
| X | g.154032248T= | CA2466571528 | MECP2 | c.336A= (p.Lys112=) c.372A= (p.Lys124=) c.*390A= (n.*390A=) n.2684A= c.324A= (p.Lys108=) c.57A= (p.Lys19=) c.-225A= (n.-225A=) | |
| X | g.154032249T>A | CA415176696 | MECP2 | c.335A>T (p.Lys112Ile) c.371A>T (p.Lys124Ile) c.*389A>T (n.*389A>T) n.2683A>T c.323A>T (p.Lys108Ile) c.56A>T (p.Lys19Ile) c.-226A>T (n.-226A>T) | |
| X | g.154032249T>C | CA415176704 | MECP2 | c.335A>G (p.Lys112Arg) c.371A>G (p.Lys124Arg) c.*389A>G (n.*389A>G) n.2683A>G c.323A>G (p.Lys108Arg) c.56A>G (p.Lys19Arg) c.-226A>G (n.-226A>G) |