| 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.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.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.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) |