| 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.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.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.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 |