| 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_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.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.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.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) |