UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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.154032205_154032208del | CA199495 | MECP2 | c.377+6_377+9del c.413+6_413+9del c.10+6_10+9del c.*431+6_*431+9del n.2725+6_2725+9del c.365+6_365+9del c.98+6_98+9del c.-184+6_-184+9del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154032206C>A | CA233146 | MECP2 | c.377+1G>T (n.377+1G>T) c.413+1G>T (n.413+1G>T) c.10+1G>T c.*431+1G>T (n.*431+1G>T) n.2725+1G>T c.365+1G>T (n.365+1G>T) c.98+1G>T (n.98+1G>T) c.-184+1G>T (n.-184+1G>T) | ClinVar dbSNP |
| X | g.154032206C= | CA2466571509 | MECP2 | c.377+1G= (n.377+1G=) c.413+1G= (n.413+1G=) c.10+1G= c.*431+1G= (n.*431+1G=) n.2725+1G= c.365+1G= (n.365+1G=) c.98+1G= (n.98+1G=) c.-184+1G= (n.-184+1G=) | |
| X | g.154032206C>G | CA415176370 | MECP2 | c.377+1G>C (n.377+1G>C) c.413+1G>C (n.413+1G>C) c.10+1G>C c.*431+1G>C (n.*431+1G>C) n.2725+1G>C c.365+1G>C (n.365+1G>C) c.98+1G>C (n.98+1G>C) c.-184+1G>C (n.-184+1G>C) | |
| X | g.154032206C>T | CA233145 | MECP2 | c.377+1G>A (n.377+1G>A) c.413+1G>A (n.413+1G>A) c.10+1G>A c.*431+1G>A (n.*431+1G>A) n.2725+1G>A c.365+1G>A (n.365+1G>A) c.98+1G>A (n.98+1G>A) c.-184+1G>A (n.-184+1G>A) | ClinVar dbSNP |
| X | g.154032207T>A | CA415176375 | MECP2 | c.377A>T (p.Asn126Ile) c.413A>T (p.Asn138Ile) c.10A>T c.*431A>T (n.*431A>T) n.2725A>T c.365A>T (p.Asn122Ile) c.98A>T (p.Asn33Ile) c.-184A>T (n.-184A>T) | ClinVar |
| X | g.154032207T>C | CA280064 | MECP2 | c.377A>G (p.Asn126Ser) c.413A>G (p.Asn138Ser) c.10A>G c.*431A>G (n.*431A>G) n.2725A>G c.365A>G (p.Asn122Ser) c.98A>G (p.Asn33Ser) c.-184A>G (n.-184A>G) | ClinVar dbSNP |
| X | g.154032207T>G | CA415176379 | MECP2 | c.377A>C (p.Asn126Thr) c.413A>C (p.Asn138Thr) c.10A>C c.*431A>C (n.*431A>C) n.2725A>C c.365A>C (p.Asn122Thr) c.98A>C (p.Asn33Thr) c.-184A>C (n.-184A>C) | |
| X | g.154032207T= | CA2466571510 | MECP2 | c.377A= (p.Asn126=) c.413A= (p.Asn138=) c.10A= c.*431A= (n.*431A=) n.2725A= c.365A= (p.Asn122=) c.98A= (p.Asn33=) c.-184A= (n.-184A=) | |
| X | g.154032208T>A | CA415176381 | MECP2 | c.376A>T (p.Asn126Tyr) c.412A>T (p.Asn138Tyr) c.9A>T c.*430A>T (n.*430A>T) n.2724A>T c.364A>T (p.Asn122Tyr) c.97A>T (p.Asn33Tyr) c.-185A>T (n.-185A>T) | |
| X | g.154032208T>C | CA16621247 | MECP2 | c.376A>G (p.Asn126Asp) c.412A>G (p.Asn138Asp) c.9A>G c.*430A>G (n.*430A>G) n.2724A>G c.364A>G (p.Asn122Asp) c.97A>G (p.Asn33Asp) c.-185A>G (n.-185A>G) | ClinVar dbSNP |
| X | g.154032208T>G | CA415176384 | MECP2 | c.376A>C (p.Asn126His) c.412A>C (p.Asn138His) c.9A>C c.*430A>C (n.*430A>C) n.2724A>C c.364A>C (p.Asn122His) c.97A>C (p.Asn33His) c.-185A>C (n.-185A>C) | |
| X | g.154032208T= | CA2466571512 | MECP2 | c.376A= (p.Asn126=) c.412A= (p.Asn138=) c.9A= c.*430A= (n.*430A=) n.2724A= c.364A= (p.Asn122=) c.97A= (p.Asn33=) c.-185A= (n.-185A=) | |
| X | g.154032208_154032209delinsTG | CA2466571511 | MECP2 | c.375_376delinsCA (p.Ile125=) c.411_412delinsCA (p.Ile137=) c.8_9delinsCA c.*429_*430delinsCA (n.*429_*430delinsCA) n.2723_2724delinsCA c.363_364delinsCA (p.Ile121=) c.96_97delinsCA (p.Ile32=) c.-186_-185delinsCA (n.-186_-185delinsCA) | |
| X | g.154032209del | CA270372 | MECP2 | c.375del (p.Asn126IlefsTer13) c.411del (p.Asn138IlefsTer13) c.8del c.*429del (n.*429del) n.2723del c.363del (p.Asn122IlefsTer13) c.96del (p.Asn33IlefsTer13) c.-186del (n.-186del) | ClinVar dbSNP |
| X | g.154032209G>A | CA519705159 | MECP2 | c.375C>T (p.Ile125=) c.411C>T (p.Ile137=) c.8C>T c.*429C>T (n.*429C>T) n.2723C>T c.363C>T (p.Ile121=) c.96C>T (p.Ile32=) c.-186C>T (n.-186C>T) | |
| X | g.154032209G>C | CA415176387 | MECP2 | c.375C>G (p.Ile125Met) c.411C>G (p.Ile137Met) c.8C>G c.*429C>G (n.*429C>G) n.2723C>G c.363C>G (p.Ile121Met) c.96C>G (p.Ile32Met) c.-186C>G (n.-186C>G) | |
| X | g.154032209G= | CA2466571513 | MECP2 | c.375C= (p.Ile125=) c.411C= (p.Ile137=) c.8C= c.*429C= (n.*429C=) n.2723C= c.363C= (p.Ile121=) c.96C= (p.Ile32=) c.-186C= (n.-186C=) | |
| X | g.154032209G>T | CA211309 | MECP2 | c.375C>A (p.Ile125=) c.411C>A (p.Ile137=) c.8C>A c.*429C>A (n.*429C>A) n.2723C>A c.363C>A (p.Ile121=) c.96C>A (p.Ile32=) c.-186C>A (n.-186C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154032210A>C | CA415176392 | MECP2 | c.374T>G (p.Ile125Ser) c.410T>G (p.Ile137Ser) c.7T>G c.*428T>G (n.*428T>G) n.2722T>G c.362T>G (p.Ile121Ser) c.95T>G (p.Ile32Ser) c.-187T>G (n.-187T>G) | |
| X | g.154032210A>G | CA415176399 | MECP2 | c.374T>C (p.Ile125Thr) c.410T>C (p.Ile137Thr) c.7T>C c.*428T>C (n.*428T>C) n.2722T>C c.362T>C (p.Ile121Thr) c.95T>C (p.Ile32Thr) c.-187T>C (n.-187T>C) | |
| X | g.154032210A>T | CA415176394 | MECP2 | c.374T>A (p.Ile125Asn) c.410T>A (p.Ile137Asn) c.7T>A c.*428T>A (n.*428T>A) n.2722T>A c.362T>A (p.Ile121Asn) c.95T>A (p.Ile32Asn) c.-187T>A (n.-187T>A) | |
| X | g.154032211T>A | CA415176402 | MECP2 | c.373A>T (p.Ile125Phe) c.409A>T (p.Ile137Phe) c.6A>T c.*427A>T (n.*427A>T) n.2721A>T c.361A>T (p.Ile121Phe) c.94A>T (p.Ile32Phe) c.-188A>T (n.-188A>T) | |
| X | g.154032211T>C | CA415176404 | MECP2 | c.373A>G (p.Ile125Val) c.409A>G (p.Ile137Val) c.6A>G c.*427A>G (n.*427A>G) n.2721A>G c.361A>G (p.Ile121Val) c.94A>G (p.Ile32Val) c.-188A>G (n.-188A>G) | |
| X | g.154032211T>G | CA415176411 | MECP2 | c.373A>C (p.Ile125Leu) c.409A>C (p.Ile137Leu) c.6A>C c.*427A>C (n.*427A>C) n.2721A>C c.361A>C (p.Ile121Leu) c.94A>C (p.Ile32Leu) c.-188A>C (n.-188A>C) | |
| X | g.154032212C>A | CA270371 | MECP2 | c.372G>T (p.Leu124Phe) c.408G>T (p.Leu136Phe) c.5G>T c.*426G>T (n.*426G>T) n.2720G>T c.360G>T (p.Leu120Phe) c.93G>T (p.Leu31Phe) c.-189G>T (n.-189G>T) | ClinVar dbSNP |
| X | g.154032212C= | CA2466571514 | MECP2 | c.372G= (p.Leu124=) c.408G= (p.Leu136=) c.5G= c.*426G= (n.*426G=) n.2720G= c.360G= (p.Leu120=) c.93G= (p.Leu31=) c.-189G= (n.-189G=) | |
| X | g.154032212C>G | CA270369 | MECP2 | c.372G>C (p.Leu124Phe) c.408G>C (p.Leu136Phe) c.5G>C c.*426G>C (n.*426G>C) n.2720G>C c.360G>C (p.Leu120Phe) c.93G>C (p.Leu31Phe) c.-189G>C (n.-189G>C) | ClinVar dbSNP |
| X | g.154032212C>T | CA519705172 | MECP2 | c.372G>A (p.Leu124=) c.408G>A (p.Leu136=) c.5G>A c.*426G>A (n.*426G>A) n.2720G>A c.360G>A (p.Leu120=) c.93G>A (p.Leu31=) c.-189G>A (n.-189G>A) | |
| X | g.154032213A>C | CA415176419 | MECP2 | c.371T>G (p.Leu124Trp) c.407T>G (p.Leu136Trp) c.4T>G c.*425T>G (n.*425T>G) n.2719T>G c.359T>G (p.Leu120Trp) c.92T>G (p.Leu31Trp) c.-190T>G (n.-190T>G) | |
| X | g.154032213A>G | CA415176423 | MECP2 | c.371T>C (p.Leu124Ser) c.407T>C (p.Leu136Ser) c.4T>C c.*425T>C (n.*425T>C) n.2719T>C c.359T>C (p.Leu120Ser) c.92T>C (p.Leu31Ser) c.-190T>C (n.-190T>C) | |
| X | g.154032213A>T | CA415176426 | MECP2 | c.371T>A (p.Leu124Ter) c.407T>A (p.Leu136Ter) c.4T>A c.*425T>A (n.*425T>A) n.2719T>A c.359T>A (p.Leu120Ter) c.92T>A (p.Leu31Ter) c.-190T>A (n.-190T>A) | |
| X | g.154032214A>C | CA415176431 | MECP2 | c.370T>G (p.Leu124Val) c.406T>G (p.Leu136Val) c.3T>G c.*424T>G (n.*424T>G) n.2718T>G c.358T>G (p.Leu120Val) c.91T>G (p.Leu31Val) c.-191T>G (n.-191T>G) | ClinVar dbSNP |
| X | g.154032214A>G | CA519705177 | MECP2 | c.370T>C (p.Leu124=) c.406T>C (p.Leu136=) c.3T>C c.*424T>C (n.*424T>C) n.2718T>C c.358T>C (p.Leu120=) c.91T>C (p.Leu31=) c.-191T>C (n.-191T>C) | |
| X | g.154032214A>T | CA415176441 | MECP2 | c.370T>A (p.Leu124Met) c.406T>A (p.Leu136Met) c.3T>A c.*424T>A (n.*424T>A) n.2718T>A c.358T>A (p.Leu120Met) c.91T>A (p.Leu31Met) c.-191T>A (n.-191T>A) | |
| X | g.154032215_154032219dup | CA2740090186 | MECP2 | c.366_370dup (p.Leu124CysfsTer3) c.402_406dup (p.Leu136CysfsTer3) c.*420_*424dup (n.*420_*424dup) n.2714_2718dup c.354_358dup (p.Leu120CysfsTer3) c.87_91dup (p.Leu31CysfsTer3) c.-195_-191dup (n.-195_-191dup) | ClinVar |
| X | g.154032215A>C | CA415176445 | MECP2 | c.369T>G (p.Tyr123Ter) c.405T>G (p.Tyr135Ter) c.2T>G c.*423T>G (n.*423T>G) n.2717T>G c.357T>G (p.Tyr119Ter) c.90T>G (p.Tyr30Ter) c.-192T>G (n.-192T>G) | |
| X | g.154032215A>G | CA519705180 | MECP2 | c.369T>C (p.Tyr123=) c.405T>C (p.Tyr135=) c.2T>C c.*423T>C (n.*423T>C) n.2717T>C c.357T>C (p.Tyr119=) c.90T>C (p.Tyr30=) c.-192T>C (n.-192T>C) | |
| X | g.154032215A>T | CA415176447 | MECP2 | c.369T>A (p.Tyr123Ter) c.405T>A (p.Tyr135Ter) c.2T>A c.*423T>A (n.*423T>A) n.2717T>A c.357T>A (p.Tyr119Ter) c.90T>A (p.Tyr30Ter) c.-192T>A (n.-192T>A) | |
| X | g.154032216T>A | CA415176451 | MECP2 | c.368A>T (p.Tyr123Phe) c.404A>T (p.Tyr135Phe) c.1A>T c.*422A>T (n.*422A>T) n.2716A>T c.356A>T (p.Tyr119Phe) c.89A>T (p.Tyr30Phe) c.-193A>T (n.-193A>T) | |
| X | g.154032216T>C | CA415176457 | MECP2 | c.368A>G (p.Tyr123Cys) c.404A>G (p.Tyr135Cys) c.1A>G c.*422A>G (n.*422A>G) n.2716A>G c.356A>G (p.Tyr119Cys) c.89A>G (p.Tyr30Cys) c.-193A>G (n.-193A>G) | |
| X | g.154032216T>G | CA415176459 | MECP2 | c.368A>C (p.Tyr123Ser) c.404A>C (p.Tyr135Ser) c.1A>C c.*422A>C (n.*422A>C) n.2716A>C c.356A>C (p.Tyr119Ser) c.89A>C (p.Tyr30Ser) c.-193A>C (n.-193A>C) | |
| X | g.154032217A>C | CA415176463 | MECP2 | c.367T>G (p.Tyr123Asp) c.403T>G (p.Tyr135Asp) c.*421T>G (n.*421T>G) n.2715T>G c.355T>G (p.Tyr119Asp) c.88T>G (p.Tyr30Asp) c.-194T>G (n.-194T>G) | |
| X | g.154032217A>G | CA415176465 | MECP2 | c.367T>C (p.Tyr123His) c.403T>C (p.Tyr135His) c.*421T>C (n.*421T>C) n.2715T>C c.355T>C (p.Tyr119His) c.88T>C (p.Tyr30His) c.-194T>C (n.-194T>C) | |
| X | g.154032217A>T | CA415176468 | MECP2 | c.367T>A (p.Tyr123Asn) c.403T>A (p.Tyr135Asn) c.*421T>A (n.*421T>A) n.2715T>A c.355T>A (p.Tyr119Asn) c.88T>A (p.Tyr30Asn) c.-194T>A (n.-194T>A) | |
| X | g.154032218C>A | CA519705195 | MECP2 | c.366G>T (p.Val122=) c.402G>T (p.Val134=) c.*420G>T (n.*420G>T) n.2714G>T c.354G>T (p.Val118=) c.87G>T (p.Val29=) c.-195G>T (n.-195G>T) | |
| X | g.154032218C>G | CA519705194 | MECP2 | c.366G>C (p.Val122=) c.402G>C (p.Val134=) c.*420G>C (n.*420G>C) n.2714G>C c.354G>C (p.Val118=) c.87G>C (p.Val29=) c.-195G>C (n.-195G>C) | |
| X | g.154032218C>T | CA519705190 | MECP2 | c.366G>A (p.Val122=) c.402G>A (p.Val134=) c.*420G>A (n.*420G>A) n.2714G>A c.354G>A (p.Val118=) c.87G>A (p.Val29=) c.-195G>A (n.-195G>A) | |
| X | g.154032219A= | CA2466571515 | MECP2 | c.365T= (p.Val122=) c.401T= (p.Val134=) c.*419T= (n.*419T=) n.2713T= c.353T= (p.Val118=) c.86T= (p.Val29=) c.-196T= (n.-196T=) | |
| X | g.154032219A>C | CA415176470 | MECP2 | c.365T>G (p.Val122Gly) c.401T>G (p.Val134Gly) c.*419T>G (n.*419T>G) n.2713T>G c.353T>G (p.Val118Gly) c.86T>G (p.Val29Gly) c.-196T>G (n.-196T>G) | |
| X | g.154032219A>G | CA170290 | MECP2 | c.365T>C (p.Val122Ala) c.401T>C (p.Val134Ala) c.*419T>C (n.*419T>C) n.2713T>C c.353T>C (p.Val118Ala) c.86T>C (p.Val29Ala) c.-196T>C (n.-196T>C) | ClinVar dbSNP |
| X | g.154032219A>T | CA415176475 | MECP2 | c.365T>A (p.Val122Glu) c.401T>A (p.Val134Glu) c.*419T>A (n.*419T>A) n.2713T>A c.353T>A (p.Val118Glu) c.86T>A (p.Val29Glu) c.-196T>A (n.-196T>A) | |
| X | g.154032220C>A | CA415176479 | MECP2 | c.364G>T (p.Val122Leu) c.400G>T (p.Val134Leu) c.*418G>T (n.*418G>T) n.2712G>T c.352G>T (p.Val118Leu) c.85G>T (p.Val29Leu) c.-197G>T (n.-197G>T) | |
| X | g.154032220C= | CA2466571516 | MECP2 | c.364G= (p.Val122=) c.400G= (p.Val134=) c.*418G= (n.*418G=) n.2712G= c.352G= (p.Val118=) c.85G= (p.Val29=) c.-197G= (n.-197G=) | |
| X | g.154032220C>G | CA415176483 | MECP2 | c.364G>C (p.Val122Leu) c.400G>C (p.Val134Leu) c.*418G>C (n.*418G>C) n.2712G>C c.352G>C (p.Val118Leu) c.85G>C (p.Val29Leu) c.-197G>C (n.-197G>C) | |
| X | g.154032220C>T | CA270366 | MECP2 | c.364G>A (p.Val122Met) c.400G>A (p.Val134Met) c.*418G>A (n.*418G>A) n.2712G>A c.352G>A (p.Val118Met) c.85G>A (p.Val29Met) c.-197G>A (n.-197G>A) | ClinVar dbSNP |
| X | g.154032221A= | CA2466571517 | MECP2 | c.363T= (p.Asp121=) c.399T= (p.Asp133=) c.*417T= (n.*417T=) n.2711T= c.351T= (p.Asp117=) c.84T= (p.Asp28=) c.-198T= (n.-198T=) | |
| X | g.154032221A>C | CA415176490 | MECP2 | c.363T>G (p.Asp121Glu) c.399T>G (p.Asp133Glu) c.*417T>G (n.*417T>G) n.2711T>G c.351T>G (p.Asp117Glu) c.84T>G (p.Asp28Glu) c.-198T>G (n.-198T>G) | ClinVar dbSNP |
| X | g.154032221A>G | CA519705198 | MECP2 | c.363T>C (p.Asp121=) c.399T>C (p.Asp133=) c.*417T>C (n.*417T>C) n.2711T>C c.351T>C (p.Asp117=) c.84T>C (p.Asp28=) c.-198T>C (n.-198T>C) | gnomAD v4 |
| X | g.154032221A>T | CA415176488 | MECP2 | c.363T>A (p.Asp121Glu) c.399T>A (p.Asp133Glu) c.*417T>A (n.*417T>A) n.2711T>A c.351T>A (p.Asp117Glu) c.84T>A (p.Asp28Glu) c.-198T>A (n.-198T>A) | |
| X | g.154032222T>A | CA415176492 | MECP2 | c.362A>T (p.Asp121Val) c.398A>T (p.Asp133Val) c.*416A>T (n.*416A>T) n.2710A>T c.350A>T (p.Asp117Val) c.83A>T (p.Asp28Val) c.-199A>T (n.-199A>T) | ClinVar dbSNP |
| X | g.154032222T>C | CA170287 | MECP2 | c.362A>G (p.Asp121Gly) c.398A>G (p.Asp133Gly) c.*416A>G (n.*416A>G) n.2710A>G c.350A>G (p.Asp117Gly) c.83A>G (p.Asp28Gly) c.-199A>G (n.-199A>G) | ClinVar dbSNP |
| X | g.154032222T>G | CA415176498 | MECP2 | c.362A>C (p.Asp121Ala) c.398A>C (p.Asp133Ala) c.*416A>C (n.*416A>C) n.2710A>C c.350A>C (p.Asp117Ala) c.83A>C (p.Asp28Ala) c.-199A>C (n.-199A>C) | |
| X | g.154032222T= | CA2466571518 | MECP2 | c.362A= (p.Asp121=) c.398A= (p.Asp133=) c.*416A= (n.*416A=) n.2710A= c.350A= (p.Asp117=) c.83A= (p.Asp28=) c.-199A= (n.-199A=) | |
| X | g.154032223C>A | CA415176505 | MECP2 | c.361G>T (p.Asp121Tyr) c.397G>T (p.Asp133Tyr) c.*415G>T (n.*415G>T) n.2709G>T c.349G>T (p.Asp117Tyr) c.82G>T (p.Asp28Tyr) c.-200G>T (n.-200G>T) | |
| X | g.154032223C>G | CA415176516 | MECP2 | c.361G>C (p.Asp121His) c.397G>C (p.Asp133His) c.*415G>C (n.*415G>C) n.2709G>C c.349G>C (p.Asp117His) c.82G>C (p.Asp28His) c.-200G>C (n.-200G>C) | |
| X | g.154032223C>T | CA415176518 | MECP2 | c.361G>A (p.Asp121Asn) c.397G>A (p.Asp133Asn) c.*415G>A (n.*415G>A) n.2709G>A c.349G>A (p.Asp117Asn) c.82G>A (p.Asp28Asn) c.-200G>A (n.-200G>A) | |
| X | g.154032224A>C | CA415176528 | MECP2 | c.360T>G (p.Tyr120Ter) c.396T>G (p.Tyr132Ter) c.*414T>G (n.*414T>G) n.2708T>G c.348T>G (p.Tyr116Ter) c.81T>G (p.Tyr27Ter) c.-201T>G (n.-201T>G) | |
| X | g.154032224A>G | CA519705203 | MECP2 | c.360T>C (p.Tyr120=) c.396T>C (p.Tyr132=) c.*414T>C (n.*414T>C) n.2708T>C c.348T>C (p.Tyr116=) c.81T>C (p.Tyr27=) c.-201T>C (n.-201T>C) | gnomAD v4 |
| X | g.154032224A>T | CA415176532 | MECP2 | c.360T>A (p.Tyr120Ter) c.396T>A (p.Tyr132Ter) c.*414T>A (n.*414T>A) n.2708T>A c.348T>A (p.Tyr116Ter) c.81T>A (p.Tyr27Ter) c.-201T>A (n.-201T>A) | |
| X | g.154032225T>A | CA415176537 | MECP2 | c.359A>T (p.Tyr120Phe) c.395A>T (p.Tyr132Phe) c.*413A>T (n.*413A>T) n.2707A>T c.347A>T (p.Tyr116Phe) c.80A>T (p.Tyr27Phe) c.-202A>T (n.-202A>T) | |
| X | g.154032225T>C | CA415176540 | MECP2 | c.359A>G (p.Tyr120Cys) c.395A>G (p.Tyr132Cys) c.*413A>G (n.*413A>G) n.2707A>G c.347A>G (p.Tyr116Cys) c.80A>G (p.Tyr27Cys) c.-202A>G (n.-202A>G) | ClinVar COSMIC |
| X | g.154032225T>G | CA415176543 | MECP2 | c.359A>C (p.Tyr120Ser) c.395A>C (p.Tyr132Ser) c.*413A>C (n.*413A>C) n.2707A>C c.347A>C (p.Tyr116Ser) c.80A>C (p.Tyr27Ser) c.-202A>C (n.-202A>C) | |
| X | g.154032226A= | CA2466571519 | MECP2 | c.358T= (p.Tyr120=) c.394T= (p.Tyr132=) c.*412T= (n.*412T=) n.2706T= c.346T= (p.Tyr116=) c.79T= (p.Tyr27=) c.-203T= (n.-203T=) | |
| X | g.154032226A>C | CA270363 | MECP2 | c.358T>G (p.Tyr120Asp) c.394T>G (p.Tyr132Asp) c.*412T>G (n.*412T>G) n.2706T>G c.346T>G (p.Tyr116Asp) c.79T>G (p.Tyr27Asp) c.-203T>G (n.-203T>G) | ClinVar dbSNP |
| X | g.154032226A>G | CA415176553 | MECP2 | c.358T>C (p.Tyr120His) c.394T>C (p.Tyr132His) c.*412T>C (n.*412T>C) n.2706T>C c.346T>C (p.Tyr116His) c.79T>C (p.Tyr27His) c.-203T>C (n.-203T>C) | |
| X | g.154032226A>T | CA415176550 | MECP2 | c.358T>A (p.Tyr120Asn) c.394T>A (p.Tyr132Asn) c.*412T>A (n.*412T>A) n.2706T>A c.346T>A (p.Tyr116Asn) c.79T>A (p.Tyr27Asn) c.-203T>A (n.-203T>A) | |
| X | g.154032227C>A | CA415176554 | MECP2 | c.357G>T (p.Lys119Asn) c.393G>T (p.Lys131Asn) c.*411G>T (n.*411G>T) n.2705G>T c.345G>T (p.Lys115Asn) c.78G>T (p.Lys26Asn) c.-204G>T (n.-204G>T) | |
| X | g.154032227C>G | CA415176556 | MECP2 | c.357G>C (p.Lys119Asn) c.393G>C (p.Lys131Asn) c.*411G>C (n.*411G>C) n.2705G>C c.345G>C (p.Lys115Asn) c.78G>C (p.Lys26Asn) c.-204G>C (n.-204G>C) | |
| X | g.154032227C>T | CA519705211 | MECP2 | c.357G>A (p.Lys119=) c.393G>A (p.Lys131=) c.*411G>A (n.*411G>A) n.2705G>A c.345G>A (p.Lys115=) c.78G>A (p.Lys26=) c.-204G>A (n.-204G>A) | |
| X | g.154032228T>A | CA415176560 | MECP2 | c.356A>T (p.Lys119Met) c.392A>T (p.Lys131Met) c.*410A>T (n.*410A>T) n.2704A>T c.344A>T (p.Lys115Met) c.77A>T (p.Lys26Met) c.-205A>T (n.-205A>T) | |
| X | g.154032228T>C | CA415176572 | MECP2 | c.356A>G (p.Lys119Arg) c.392A>G (p.Lys131Arg) c.*410A>G (n.*410A>G) n.2704A>G c.344A>G (p.Lys115Arg) c.77A>G (p.Lys26Arg) c.-205A>G (n.-205A>G) | |
| X | g.154032228T>G | CA415176564 | MECP2 | c.356A>C (p.Lys119Thr) c.392A>C (p.Lys131Thr) c.*410A>C (n.*410A>C) n.2704A>C c.344A>C (p.Lys115Thr) c.77A>C (p.Lys26Thr) c.-205A>C (n.-205A>C) | |
| X | g.154032229T>A | CA415176576 | MECP2 | c.355A>T (p.Lys119Ter) c.391A>T (p.Lys131Ter) c.*409A>T (n.*409A>T) n.2703A>T c.343A>T (p.Lys115Ter) c.76A>T (p.Lys26Ter) c.-206A>T (n.-206A>T) | |
| X | g.154032229T>C | CA415176585 | MECP2 | c.355A>G (p.Lys119Glu) c.391A>G (p.Lys131Glu) c.*409A>G (n.*409A>G) n.2703A>G c.343A>G (p.Lys115Glu) c.76A>G (p.Lys26Glu) c.-206A>G (n.-206A>G) | |
| X | g.154032229T>G | CA415176578 | MECP2 | c.355A>C (p.Lys119Gln) c.391A>C (p.Lys131Gln) c.*409A>C (n.*409A>C) n.2703A>C c.343A>C (p.Lys115Gln) c.76A>C (p.Lys26Gln) c.-206A>C (n.-206A>C) | |
| X | g.154032230C>A | CA519705217 | MECP2 | c.354G>T (p.Gly118=) c.390G>T (p.Gly130=) c.*408G>T (n.*408G>T) n.2702G>T c.342G>T (p.Gly114=) c.75G>T (p.Gly25=) c.-207G>T (n.-207G>T) | |
| X | g.154032230C>G | CA519705219 | MECP2 | c.354G>C (p.Gly118=) c.390G>C (p.Gly130=) c.*408G>C (n.*408G>C) n.2702G>C c.342G>C (p.Gly114=) c.75G>C (p.Gly25=) c.-207G>C (n.-207G>C) | |
| X | g.154032230C>T | CA519705218 | MECP2 | c.354G>A (p.Gly118=) c.390G>A (p.Gly130=) c.*408G>A (n.*408G>A) n.2702G>A c.342G>A (p.Gly114=) c.75G>A (p.Gly25=) c.-207G>A (n.-207G>A) | |
| X | g.154032231C>A | CA415176589 | MECP2 | c.353G>T (p.Gly118Val) c.389G>T (p.Gly130Val) c.*407G>T (n.*407G>T) n.2701G>T c.341G>T (p.Gly114Val) c.74G>T (p.Gly25Val) c.-208G>T (n.-208G>T) | |
| X | g.154032231C= | CA2466571520 | MECP2 | c.353G= (p.Gly118=) c.389G= (p.Gly130=) c.*407G= (n.*407G=) n.2701G= c.341G= (p.Gly114=) c.74G= (p.Gly25=) c.-208G= (n.-208G=) | |
| X | g.154032231C>G | CA415176592 | MECP2 | c.353G>C (p.Gly118Ala) c.389G>C (p.Gly130Ala) c.*407G>C (n.*407G>C) n.2701G>C c.341G>C (p.Gly114Ala) c.74G>C (p.Gly25Ala) c.-208G>C (n.-208G>C) | ClinVar dbSNP |
| X | g.154032231C>T | CA415176602 | MECP2 | c.353G>A (p.Gly118Glu) c.389G>A (p.Gly130Glu) c.*407G>A (n.*407G>A) n.2701G>A c.341G>A (p.Gly114Glu) c.74G>A (p.Gly25Glu) c.-208G>A (n.-208G>A) | |
| X | g.154032232C>A | CA415176607 | MECP2 | c.352G>T (p.Gly118Trp) c.388G>T (p.Gly130Trp) c.*406G>T (n.*406G>T) n.2700G>T c.340G>T (p.Gly114Trp) c.73G>T (p.Gly25Trp) c.-209G>T (n.-209G>T) | |
| X | g.154032232C>G | CA415176610 | MECP2 | c.352G>C (p.Gly118Arg) c.388G>C (p.Gly130Arg) c.*406G>C (n.*406G>C) n.2700G>C c.340G>C (p.Gly114Arg) c.73G>C (p.Gly25Arg) c.-209G>C (n.-209G>C) | |
| X | g.154032232C>T | CA415176613 | MECP2 | c.352G>A (p.Gly118Arg) c.388G>A (p.Gly130Arg) c.*406G>A (n.*406G>A) n.2700G>A c.340G>A (p.Gly114Arg) c.73G>A (p.Gly25Arg) c.-209G>A (n.-209G>A) | |
| X | g.154032232_154032235delinsAGGA | CA2573055157 | MECP2 | c.349_352delinsTCCT (p.Ala117_Gly118delinsSerTrp) c.385_388delinsTCCT (p.Ala129_Gly130delinsSerTrp) c.*403_*406delinsTCCT (n.*403_*406delinsTCCT) n.2697_2700delinsTCCT c.337_340delinsTCCT (p.Ala113_Gly114delinsSerTrp) c.70_73delinsTCCT (p.Ala24_Gly25delinsSerTrp) c.-212_-209delinsTCCT (n.-212_-209delinsTCCT) | ClinVar dbSNP |
| X | g.154032233A>C | CA519705227 | MECP2 | c.351T>G (p.Ala117=) c.387T>G (p.Ala129=) c.*405T>G (n.*405T>G) n.2699T>G c.339T>G (p.Ala113=) c.72T>G (p.Ala24=) c.-210T>G (n.-210T>G) | |
| X | g.154032233A>G | CA519705228 | MECP2 | c.351T>C (p.Ala117=) c.387T>C (p.Ala129=) c.*405T>C (n.*405T>C) n.2699T>C c.339T>C (p.Ala113=) c.72T>C (p.Ala24=) c.-210T>C (n.-210T>C) | |
| X | g.154032233A>T | CA519705229 | MECP2 | c.351T>A (p.Ala117=) c.387T>A (p.Ala129=) c.*405T>A (n.*405T>A) n.2699T>A c.339T>A (p.Ala113=) c.72T>A (p.Ala24=) c.-210T>A (n.-210T>A) | |
| X | g.154032234G>A | CA415176614 | MECP2 | c.350C>T (p.Ala117Val) c.386C>T (p.Ala129Val) c.*404C>T (n.*404C>T) n.2698C>T c.338C>T (p.Ala113Val) c.71C>T (p.Ala24Val) c.-211C>T (n.-211C>T) | |
| X | g.154032234G>C | CA415176615 | MECP2 | c.350C>G (p.Ala117Gly) c.386C>G (p.Ala129Gly) c.*404C>G (n.*404C>G) n.2698C>G c.338C>G (p.Ala113Gly) c.71C>G (p.Ala24Gly) c.-211C>G (n.-211C>G) | ClinVar |
| X | g.154032234G>T | CA415176616 | MECP2 | c.350C>A (p.Ala117Asp) c.386C>A (p.Ala129Asp) c.*404C>A (n.*404C>A) n.2698C>A c.338C>A (p.Ala113Asp) c.71C>A (p.Ala24Asp) c.-211C>A (n.-211C>A) | |
| 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.154032235C>A | CA415176622 | MECP2 | c.349G>T (p.Ala117Ser) c.385G>T (p.Ala129Ser) c.*403G>T (n.*403G>T) n.2697G>T c.337G>T (p.Ala113Ser) c.70G>T (p.Ala24Ser) c.-212G>T (n.-212G>T) | |
| X | g.154032235C>G | CA415176618 | MECP2 | c.349G>C (p.Ala117Pro) c.385G>C (p.Ala129Pro) c.*403G>C (n.*403G>C) n.2697G>C c.337G>C (p.Ala113Pro) c.70G>C (p.Ala24Pro) c.-212G>C (n.-212G>C) | |
| X | g.154032235C>T | CA415176617 | MECP2 | c.349G>A (p.Ala117Thr) c.385G>A (p.Ala129Thr) c.*403G>A (n.*403G>A) n.2697G>A c.337G>A (p.Ala113Thr) c.70G>A (p.Ala24Thr) c.-212G>A (n.-212G>A) | |
| 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.154032236A>C | CA519705234 | MECP2 | c.348T>G (p.Ser116=) c.384T>G (p.Ser128=) c.*402T>G (n.*402T>G) n.2696T>G c.336T>G (p.Ser112=) c.69T>G (p.Ser23=) c.-213T>G (n.-213T>G) | |
| X | g.154032236A>G | CA519705236 | MECP2 | c.348T>C (p.Ser116=) c.384T>C (p.Ser128=) c.*402T>C (n.*402T>C) n.2696T>C c.336T>C (p.Ser112=) c.69T>C (p.Ser23=) c.-213T>C (n.-213T>C) | |
| X | g.154032236A>T | CA519705237 | MECP2 | c.348T>A (p.Ser116=) c.384T>A (p.Ser128=) c.*402T>A (n.*402T>A) n.2696T>A c.336T>A (p.Ser112=) c.69T>A (p.Ser23=) c.-213T>A (n.-213T>A) | |
| X | g.154032237G>A | CA415176625 | MECP2 | c.347C>T (p.Ser116Phe) c.383C>T (p.Ser128Phe) c.*401C>T (n.*401C>T) n.2695C>T c.335C>T (p.Ser112Phe) c.68C>T (p.Ser23Phe) c.-214C>T (n.-214C>T) | |
| X | g.154032237G>C | CA415176635 | MECP2 | c.347C>G (p.Ser116Cys) c.383C>G (p.Ser128Cys) c.*401C>G (n.*401C>G) n.2695C>G c.335C>G (p.Ser112Cys) c.68C>G (p.Ser23Cys) c.-214C>G (n.-214C>G) | |
| X | g.154032237G>T | CA415176638 | MECP2 | c.347C>A (p.Ser116Tyr) c.383C>A (p.Ser128Tyr) c.*401C>A (n.*401C>A) n.2695C>A c.335C>A (p.Ser112Tyr) c.68C>A (p.Ser23Tyr) c.-214C>A (n.-214C>A) | |
| X | g.154032238A>C | CA415176645 | MECP2 | c.346T>G (p.Ser116Ala) c.382T>G (p.Ser128Ala) c.*400T>G (n.*400T>G) n.2694T>G c.334T>G (p.Ser112Ala) c.67T>G (p.Ser23Ala) c.-215T>G (n.-215T>G) | |
| X | g.154032238A>G | CA415176649 | MECP2 | c.346T>C (p.Ser116Pro) c.382T>C (p.Ser128Pro) c.*400T>C (n.*400T>C) n.2694T>C c.334T>C (p.Ser112Pro) c.67T>C (p.Ser23Pro) c.-215T>C (n.-215T>C) | |
| X | g.154032238A>T | CA415176652 | MECP2 | c.346T>A (p.Ser116Thr) c.382T>A (p.Ser128Thr) c.*400T>A (n.*400T>A) n.2694T>A c.334T>A (p.Ser112Thr) c.67T>A (p.Ser23Thr) c.-215T>A (n.-215T>A) | |
| X | g.154032238_154032239delinsAG | CA2466571522 | MECP2 | c.345_346delinsCT (p.Arg115=) c.381_382delinsCT (p.Arg127=) c.*399_*400delinsCT (n.*399_*400delinsCT) n.2693_2694delinsCT c.333_334delinsCT (p.Arg111=) c.66_67delinsCT (p.Arg22=) c.-216_-215delinsCT (n.-216_-215delinsCT) | |
| X | g.154032239del | CA270362 | MECP2 | c.345del (p.Ser116LeufsTer9) c.381del (p.Ser128LeufsTer9) c.*399del (n.*399del) n.2693del c.333del (p.Ser112LeufsTer9) c.66del (p.Ser23LeufsTer9) c.-216del (n.-216del) | ClinVar dbSNP |
| X | g.154032239G>A | CA519705247 | MECP2 | c.345C>T (p.Arg115=) c.381C>T (p.Arg127=) c.*399C>T (n.*399C>T) n.2693C>T c.333C>T (p.Arg111=) c.66C>T (p.Arg22=) c.-216C>T (n.-216C>T) | |
| X | g.154032239G>C | CA519705248 | MECP2 | c.345C>G (p.Arg115=) c.381C>G (p.Arg127=) c.*399C>G (n.*399C>G) n.2693C>G c.333C>G (p.Arg111=) c.66C>G (p.Arg22=) c.-216C>G (n.-216C>G) | |
| X | g.154032239G>T | CA519705245 | MECP2 | c.345C>A (p.Arg115=) c.381C>A (p.Arg127=) c.*399C>A (n.*399C>A) n.2693C>A c.333C>A (p.Arg111=) c.66C>A (p.Arg22=) c.-216C>A (n.-216C>A) | |
| X | g.154032240C>A | CA415176658 | MECP2 | c.344G>T (p.Arg115Leu) c.380G>T (p.Arg127Leu) c.*398G>T (n.*398G>T) n.2692G>T c.332G>T (p.Arg111Leu) c.65G>T (p.Arg22Leu) c.-217G>T (n.-217G>T) | |
| X | g.154032240C= | CA2466571523 | MECP2 | c.344G= (p.Arg115=) c.380G= (p.Arg127=) c.*398G= (n.*398G=) n.2692G= c.332G= (p.Arg111=) c.65G= (p.Arg22=) c.-217G= (n.-217G=) | |
| X | g.154032240C>G | CA415176660 | MECP2 | c.344G>C (p.Arg115Pro) c.380G>C (p.Arg127Pro) c.*398G>C (n.*398G>C) n.2692G>C c.332G>C (p.Arg111Pro) c.65G>C (p.Arg22Pro) c.-217G>C (n.-217G>C) | |
| X | g.154032240C>T | CA10558640 | MECP2 | c.344G>A (p.Arg115His) c.380G>A (p.Arg127His) c.*398G>A (n.*398G>A) n.2692G>A c.332G>A (p.Arg111His) c.65G>A (p.Arg22His) c.-217G>A (n.-217G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 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) | |
| X | g.154032249T>G | CA415176706 | MECP2 | c.335A>C (p.Lys112Thr) c.371A>C (p.Lys124Thr) c.*389A>C (n.*389A>C) n.2683A>C c.323A>C (p.Lys108Thr) c.56A>C (p.Lys19Thr) c.-226A>C (n.-226A>C) | |
| X | g.154032250T>A | CA232962 | MECP2 | c.334A>T (p.Lys112Ter) c.370A>T (p.Lys124Ter) c.*388A>T (n.*388A>T) n.2682A>T c.322A>T (p.Lys108Ter) c.55A>T (p.Lys19Ter) c.-227A>T (n.-227A>T) | ClinVar dbSNP |
| X | g.154032250T>C | CA415176708 | MECP2 | c.334A>G (p.Lys112Glu) c.370A>G (p.Lys124Glu) c.*388A>G (n.*388A>G) n.2682A>G c.322A>G (p.Lys108Glu) c.55A>G (p.Lys19Glu) c.-227A>G (n.-227A>G) | |
| X | g.154032250T>G | CA415176711 | MECP2 | c.334A>C (p.Lys112Gln) c.370A>C (p.Lys124Gln) c.*388A>C (n.*388A>C) n.2682A>C c.322A>C (p.Lys108Gln) c.55A>C (p.Lys19Gln) c.-227A>C (n.-227A>C) | |
| X | g.154032250T= | CA2466571529 | MECP2 | c.334A= (p.Lys112=) c.370A= (p.Lys124=) c.*388A= (n.*388A=) n.2682A= c.322A= (p.Lys108=) c.55A= (p.Lys19=) c.-227A= (n.-227A=) | |
| X | g.154032251C>A | CA415176714 | MECP2 | c.333G>T (p.Arg111Ser) c.369G>T (p.Arg123Ser) c.*387G>T (n.*387G>T) n.2681G>T c.321G>T (p.Arg107Ser) c.54G>T (p.Arg18Ser) c.-228G>T (n.-228G>T) | |
| X | g.154032251C>G | CA415176717 | MECP2 | c.333G>C (p.Arg111Ser) c.369G>C (p.Arg123Ser) c.*387G>C (n.*387G>C) n.2681G>C c.321G>C (p.Arg107Ser) c.54G>C (p.Arg18Ser) c.-228G>C (n.-228G>C) | |
| X | g.154032251C>T | CA519705268 | MECP2 | c.333G>A (p.Arg111=) c.369G>A (p.Arg123=) c.*387G>A (n.*387G>A) n.2681G>A c.321G>A (p.Arg107=) c.54G>A (p.Arg18=) c.-228G>A (n.-228G>A) | ClinVar |
| X | g.154032252C>A | CA415176721 | MECP2 | c.332G>T (p.Arg111Met) c.368G>T (p.Arg123Met) c.*386G>T (n.*386G>T) n.2680G>T c.320G>T (p.Arg107Met) c.53G>T (p.Arg18Met) c.-229G>T (n.-229G>T) | |
| X | g.154032252C= | CA2466571530 | MECP2 | c.332G= (p.Arg111=) c.368G= (p.Arg123=) c.*386G= (n.*386G=) n.2680G= c.320G= (p.Arg107=) c.53G= (p.Arg18=) c.-229G= (n.-229G=) | |
| X | g.154032252C>G | CA415176724 | MECP2 | c.332G>C (p.Arg111Thr) c.368G>C (p.Arg123Thr) c.*386G>C (n.*386G>C) n.2680G>C c.320G>C (p.Arg107Thr) c.53G>C (p.Arg18Thr) c.-229G>C (n.-229G>C) | ClinVar |
| X | g.154032252C>T | CA16043705 | MECP2 | c.332G>A (p.Arg111Lys) c.368G>A (p.Arg123Lys) c.*386G>A (n.*386G>A) n.2680G>A c.320G>A (p.Arg107Lys) c.53G>A (p.Arg18Lys) c.-229G>A (n.-229G>A) | ClinVar dbSNP |
| X | g.154032253T>A | CA415176730 | MECP2 | c.331A>T (p.Arg111Trp) c.367A>T (p.Arg123Trp) c.*385A>T (n.*385A>T) n.2679A>T c.319A>T (p.Arg107Trp) c.52A>T (p.Arg18Trp) c.-230A>T (n.-230A>T) | |
| X | g.154032253T>C | CA270357 | MECP2 | c.331A>G (p.Arg111Gly) c.367A>G (p.Arg123Gly) c.*385A>G (n.*385A>G) n.2679A>G c.319A>G (p.Arg107Gly) c.52A>G (p.Arg18Gly) c.-230A>G (n.-230A>G) | ClinVar dbSNP |
| X | g.154032253T>G | CA519705272 | MECP2 | c.331A>C (p.Arg111=) c.367A>C (p.Arg123=) c.*385A>C (n.*385A>C) n.2679A>C c.319A>C (p.Arg107=) c.52A>C (p.Arg18=) c.-230A>C (n.-230A>C) | |
| X | g.154032253T= | CA2466571531 | MECP2 | c.331A= (p.Arg111=) c.367A= (p.Arg123=) c.*385A= (n.*385A=) n.2679A= c.319A= (p.Arg107=) c.52A= (p.Arg18=) c.-230A= (n.-230A=) | |
| X | g.154032254T>A | CA415176733 | MECP2 | c.330A>T (p.Gln110His) c.366A>T (p.Gln122His) c.*384A>T (n.*384A>T) n.2678A>T c.318A>T (p.Gln106His) c.51A>T (p.Gln17His) c.-231A>T (n.-231A>T) | |
| X | g.154032254T>C | CA519705274 | MECP2 | c.330A>G (p.Gln110=) c.366A>G (p.Gln122=) c.*384A>G (n.*384A>G) n.2678A>G c.318A>G (p.Gln106=) c.51A>G (p.Gln17=) c.-231A>G (n.-231A>G) | |
| X | g.154032254T>G | CA415176735 | MECP2 | c.330A>C (p.Gln110His) c.366A>C (p.Gln122His) c.*384A>C (n.*384A>C) n.2678A>C c.318A>C (p.Gln106His) c.51A>C (p.Gln17His) c.-231A>C (n.-231A>C) | |
| X | g.154032255T>A | CA415176739 | MECP2 | c.329A>T (p.Gln110Leu) c.365A>T (p.Gln122Leu) c.*383A>T (n.*383A>T) n.2677A>T c.317A>T (p.Gln106Leu) c.50A>T (p.Gln17Leu) c.-232A>T (n.-232A>T) | |
| X | g.154032255T>C | CA415176742 | MECP2 | c.329A>G (p.Gln110Arg) c.365A>G (p.Gln122Arg) c.*383A>G (n.*383A>G) n.2677A>G c.317A>G (p.Gln106Arg) c.50A>G (p.Gln17Arg) c.-232A>G (n.-232A>G) | |
| X | g.154032255T>G | CA415176745 | MECP2 | c.329A>C (p.Gln110Pro) c.365A>C (p.Gln122Pro) c.*383A>C (n.*383A>C) n.2677A>C c.317A>C (p.Gln106Pro) c.50A>C (p.Gln17Pro) c.-232A>C (n.-232A>C) | |
| X | g.154032256G>A | CA415176755 | MECP2 | c.328C>T (p.Gln110Ter) c.364C>T (p.Gln122Ter) c.*382C>T (n.*382C>T) n.2676C>T c.316C>T (p.Gln106Ter) c.49C>T (p.Gln17Ter) c.-233C>T (n.-233C>T) | |
| X | g.154032256G>C | CA415176752 | MECP2 | c.328C>G (p.Gln110Glu) c.364C>G (p.Gln122Glu) c.*382C>G (n.*382C>G) n.2676C>G c.316C>G (p.Gln106Glu) c.49C>G (p.Gln17Glu) c.-233C>G (n.-233C>G) | |
| X | g.154032256G>T | CA415176749 | MECP2 | c.328C>A (p.Gln110Lys) c.364C>A (p.Gln122Lys) c.*382C>A (n.*382C>A) n.2676C>A c.316C>A (p.Gln106Lys) c.49C>A (p.Gln17Lys) c.-233C>A (n.-233C>A) | |
| X | g.154032257C>A | CA415176759 | MECP2 | c.327G>T (p.Lys109Asn) c.363G>T (p.Lys121Asn) c.*381G>T (n.*381G>T) n.2675G>T c.315G>T (p.Lys105Asn) c.48G>T (p.Lys16Asn) c.-234G>T (n.-234G>T) | |
| X | g.154032257C= | CA2466571532 | MECP2 | c.327G= (p.Lys109=) c.363G= (p.Lys121=) c.*381G= (n.*381G=) n.2675G= c.315G= (p.Lys105=) c.48G= (p.Lys16=) c.-234G= (n.-234G=) | |
| X | g.154032257C>G | CA415176763 | MECP2 | c.327G>C (p.Lys109Asn) c.363G>C (p.Lys121Asn) c.*381G>C (n.*381G>C) n.2675G>C c.315G>C (p.Lys105Asn) c.48G>C (p.Lys16Asn) c.-234G>C (n.-234G>C) | |
| X | g.154032257C>T | CA519705278 | MECP2 | c.327G>A (p.Lys109=) c.363G>A (p.Lys121=) c.*381G>A (n.*381G>A) n.2675G>A c.315G>A (p.Lys105=) c.48G>A (p.Lys16=) c.-234G>A (n.-234G>A) | gnomAD v4 |
| X | g.154032258T>A | CA415176768 | MECP2 | c.326A>T (p.Lys109Met) c.362A>T (p.Lys121Met) c.*380A>T (n.*380A>T) n.2674A>T c.314A>T (p.Lys105Met) c.47A>T (p.Lys16Met) c.-235A>T (n.-235A>T) | |
| X | g.154032258T>C | CA415176772 | MECP2 | c.326A>G (p.Lys109Arg) c.362A>G (p.Lys121Arg) c.*380A>G (n.*380A>G) n.2674A>G c.314A>G (p.Lys105Arg) c.47A>G (p.Lys16Arg) c.-235A>G (n.-235A>G) | |
| X | g.154032258T>G | CA415176776 | MECP2 | c.326A>C (p.Lys109Thr) c.362A>C (p.Lys121Thr) c.*380A>C (n.*380A>C) n.2674A>C c.314A>C (p.Lys105Thr) c.47A>C (p.Lys16Thr) c.-235A>C (n.-235A>C) | |
| X | g.154032259dup | CA270356 | MECP2 | c.326dup (p.Gln110AlafsTer12) c.362dup (p.Gln122AlafsTer12) c.*380dup (n.*380dup) n.2674dup c.314dup (p.Gln106AlafsTer12) c.47dup (p.Gln17AlafsTer12) c.-235dup (n.-235dup) | ClinVar dbSNP |
| X | g.154032259T>A | CA415176784 | MECP2 | c.325A>T (p.Lys109Ter) c.361A>T (p.Lys121Ter) c.*379A>T (n.*379A>T) n.2673A>T c.313A>T (p.Lys105Ter) c.46A>T (p.Lys16Ter) c.-236A>T (n.-236A>T) | |
| X | g.154032259T>C | CA10603536 | MECP2 | c.325A>G (p.Lys109Glu) c.361A>G (p.Lys121Glu) c.*379A>G (n.*379A>G) n.2673A>G c.313A>G (p.Lys105Glu) c.46A>G (p.Lys16Glu) c.-236A>G (n.-236A>G) | ClinVar dbSNP |
| X | g.154032259T>G | CA415176787 | MECP2 | c.325A>C (p.Lys109Gln) c.361A>C (p.Lys121Gln) c.*379A>C (n.*379A>C) n.2673A>C c.313A>C (p.Lys105Gln) c.46A>C (p.Lys16Gln) c.-236A>C (n.-236A>C) | |
| X | g.154032259T= | CA2466571533 | MECP2 | c.325A= (p.Lys109=) c.361A= (p.Lys121=) c.*379A= (n.*379A=) n.2673A= c.313A= (p.Lys105=) c.46A= (p.Lys16=) c.-236A= (n.-236A=) | |
| X | g.154032260A>C | CA519705281 | MECP2 | c.324T>G (p.Leu108=) c.360T>G (p.Leu120=) c.*378T>G (n.*378T>G) n.2672T>G c.312T>G (p.Leu104=) c.45T>G (p.Leu15=) c.-237T>G (n.-237T>G) | |
| X | g.154032260A>G | CA519705284 | MECP2 | c.324T>C (p.Leu108=) c.360T>C (p.Leu120=) c.*378T>C (n.*378T>C) n.2672T>C c.312T>C (p.Leu104=) c.45T>C (p.Leu15=) c.-237T>C (n.-237T>C) | |
| X | g.154032260A>T | CA519705282 | MECP2 | c.324T>A (p.Leu108=) c.360T>A (p.Leu120=) c.*378T>A (n.*378T>A) n.2672T>A c.312T>A (p.Leu104=) c.45T>A (p.Leu15=) c.-237T>A (n.-237T>A) | |
| X | g.154032260_154032273delinsAAGCTTCCGTGTCC | CA2466571534 | MECP2 | c.311_324delinsGGACACGGAAGCTT (p.Trp104=) c.347_360delinsGGACACGGAAGCTT (p.Trp116=) c.*365_*378delinsGGACACGGAAGCTT (n.*365_*378delinsGGACACGGAAGCTT) n.2659_2672delinsGGACACGGAAGCTT c.299_312delinsGGACACGGAAGCTT (p.Trp100=) c.32_45delinsGGACACGGAAGCTT (p.Trp11=) c.-250_-237delinsGGACACGGAAGCTT (n.-250_-237delinsGGACACGGAAGCTT) | |
| X | g.154032261A= | CA2466571535 | MECP2 | c.323T= (p.Leu108=) c.359T= (p.Leu120=) c.*377T= (n.*377T=) n.2671T= c.311T= (p.Leu104=) c.44T= (p.Leu15=) c.-238T= (n.-238T=) | |
| X | g.154032261A>C | CA415176794 | MECP2 | c.323T>G (p.Leu108Arg) c.359T>G (p.Leu120Arg) c.*377T>G (n.*377T>G) n.2671T>G c.311T>G (p.Leu104Arg) c.44T>G (p.Leu15Arg) c.-238T>G (n.-238T>G) | |
| X | g.154032261A>G | CA294701 | MECP2 | c.323T>C (p.Leu108Pro) c.359T>C (p.Leu120Pro) c.*377T>C (n.*377T>C) n.2671T>C c.311T>C (p.Leu104Pro) c.44T>C (p.Leu15Pro) c.-238T>C (n.-238T>C) | ClinVar dbSNP |
| X | g.154032261A>T | CA270353 | MECP2 | c.323T>A (p.Leu108His) c.359T>A (p.Leu120His) c.*377T>A (n.*377T>A) n.2671T>A c.311T>A (p.Leu104His) c.44T>A (p.Leu15His) c.-238T>A (n.-238T>A) | ClinVar dbSNP |
| X | g.154032264_154032276del | CA270343 | MECP2 | c.311_323del (p.Trp104LeufsTer17) c.347_359del (p.Trp116LeufsTer17) c.*365_*377del (n.*365_*377del) n.2659_2671del c.299_311del (p.Trp100LeufsTer17) c.32_44del (p.Trp11LeufsTer17) c.-250_-238del (n.-250_-238del) | ClinVar dbSNP |
| X | g.154032262G>A | CA415176801 | MECP2 | c.322C>T (p.Leu108Phe) c.358C>T (p.Leu120Phe) c.*376C>T (n.*376C>T) n.2670C>T c.310C>T (p.Leu104Phe) c.43C>T (p.Leu15Phe) c.-239C>T (n.-239C>T) | ClinVar dbSNP |
| X | g.154032262G>C | CA415176805 | MECP2 | c.322C>G (p.Leu108Val) c.358C>G (p.Leu120Val) c.*376C>G (n.*376C>G) n.2670C>G c.310C>G (p.Leu104Val) c.43C>G (p.Leu15Val) c.-239C>G (n.-239C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.154032262G= | CA2466571536 | MECP2 | c.322C= (p.Leu108=) c.358C= (p.Leu120=) c.*376C= (n.*376C=) n.2670C= c.310C= (p.Leu104=) c.43C= (p.Leu15=) c.-239C= (n.-239C=) | |
| X | g.154032262G>T | CA415176807 | MECP2 | c.322C>A (p.Leu108Ile) c.358C>A (p.Leu120Ile) c.*376C>A (n.*376C>A) n.2670C>A c.310C>A (p.Leu104Ile) c.43C>A (p.Leu15Ile) c.-239C>A (n.-239C>A) | |
| X | g.154032263C>A | CA415176820 | MECP2 | c.321G>T (p.Lys107Asn) c.357G>T (p.Lys119Asn) c.*375G>T (n.*375G>T) n.2669G>T c.309G>T (p.Lys103Asn) c.42G>T (p.Lys14Asn) c.-240G>T (n.-240G>T) | COSMIC |
| X | g.154032263C>G | CA415176824 | MECP2 | c.321G>C (p.Lys107Asn) c.357G>C (p.Lys119Asn) c.*375G>C (n.*375G>C) n.2669G>C c.309G>C (p.Lys103Asn) c.42G>C (p.Lys14Asn) c.-240G>C (n.-240G>C) | |
| X | g.154032263C>T | CA519705290 | MECP2 | c.321G>A (p.Lys107=) c.357G>A (p.Lys119=) c.*375G>A (n.*375G>A) n.2669G>A c.309G>A (p.Lys103=) c.42G>A (p.Lys14=) c.-240G>A (n.-240G>A) | |
| X | g.154032264_154032267dup | CA274585 | MECP2 | c.318_321dup (p.Leu108GlufsTer3) c.354_357dup (p.Leu120GlufsTer3) c.*372_*375dup (n.*372_*375dup) n.2666_2669dup c.306_309dup (p.Leu104GlufsTer3) c.39_42dup (p.Leu15GlufsTer3) c.-243_-240dup (n.-243_-240dup) | ClinVar dbSNP |
| X | g.154032264T>A | CA415176827 | MECP2 | c.320A>T (p.Lys107Met) c.356A>T (p.Lys119Met) c.*374A>T (n.*374A>T) n.2668A>T c.308A>T (p.Lys103Met) c.41A>T (p.Lys14Met) c.-241A>T (n.-241A>T) | |
| X | g.154032264T>C | CA415176830 | MECP2 | c.320A>G (p.Lys107Arg) c.356A>G (p.Lys119Arg) c.*374A>G (n.*374A>G) n.2668A>G c.308A>G (p.Lys103Arg) c.41A>G (p.Lys14Arg) c.-241A>G (n.-241A>G) | ClinVar dbSNP |
| X | g.154032264T>G | CA415176828 | MECP2 | c.320A>C (p.Lys107Thr) c.356A>C (p.Lys119Thr) c.*374A>C (n.*374A>C) n.2668A>C c.308A>C (p.Lys103Thr) c.41A>C (p.Lys14Thr) c.-241A>C (n.-241A>C) | |
| X | g.154032265T>A | CA415176834 | MECP2 | c.319A>T (p.Lys107Ter) c.355A>T (p.Lys119Ter) c.*373A>T (n.*373A>T) n.2667A>T c.307A>T (p.Lys103Ter) c.40A>T (p.Lys14Ter) c.-242A>T (n.-242A>T) | |
| X | g.154032265T>C | CA415176836 | MECP2 | c.319A>G (p.Lys107Glu) c.355A>G (p.Lys119Glu) c.*373A>G (n.*373A>G) n.2667A>G c.307A>G (p.Lys103Glu) c.40A>G (p.Lys14Glu) c.-242A>G (n.-242A>G) | |
| X | g.154032265T>G | CA415176839 | MECP2 | c.319A>C (p.Lys107Gln) c.355A>C (p.Lys119Gln) c.*373A>C (n.*373A>C) n.2667A>C c.307A>C (p.Lys103Gln) c.40A>C (p.Lys14Gln) c.-242A>C (n.-242A>C) | |
| X | g.154032266C>A | CA519705294 | MECP2 | c.318G>T (p.Arg106=) c.354G>T (p.Arg118=) c.*372G>T (n.*372G>T) n.2666G>T c.306G>T (p.Arg102=) c.39G>T (p.Arg13=) c.-243G>T (n.-243G>T) | |
| X | g.154032266C= | CA2466571537 | MECP2 | c.318G= (p.Arg106=) c.354G= (p.Arg118=) c.*372G= (n.*372G=) n.2666G= c.306G= (p.Arg102=) c.39G= (p.Arg13=) c.-243G= (n.-243G=) | |
| X | g.154032266C>G | CA519705295 | MECP2 | c.318G>C (p.Arg106=) c.354G>C (p.Arg118=) c.*372G>C (n.*372G>C) n.2666G>C c.306G>C (p.Arg102=) c.39G>C (p.Arg13=) c.-243G>C (n.-243G>C) | |
| X | g.154032266C>T | CA519705297 | MECP2 | c.318G>A (p.Arg106=) c.354G>A (p.Arg118=) c.*372G>A (n.*372G>A) n.2666G>A c.306G>A (p.Arg102=) c.39G>A (p.Arg13=) c.-243G>A (n.-243G>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154032267C>A | CA270350 | MECP2 | c.317G>T (p.Arg106Leu) c.353G>T (p.Arg118Leu) c.*371G>T (n.*371G>T) n.2665G>T c.305G>T (p.Arg102Leu) c.38G>T (p.Arg13Leu) c.-244G>T (n.-244G>T) | ClinVar dbSNP |
| X | g.154032267C= | CA2466571538 | MECP2 | c.317G= (p.Arg106=) c.353G= (p.Arg118=) c.*371G= (n.*371G=) n.2665G= c.305G= (p.Arg102=) c.38G= (p.Arg13=) c.-244G= (n.-244G=) | |
| X | g.154032267C>G | CA415176843 | MECP2 | c.317G>C (p.Arg106Pro) c.353G>C (p.Arg118Pro) c.*371G>C (n.*371G>C) n.2665G>C c.305G>C (p.Arg102Pro) c.38G>C (p.Arg13Pro) c.-244G>C (n.-244G>C) | |
| X | g.154032267C>T | CA270348 | MECP2 | c.317G>A (p.Arg106Gln) c.353G>A (p.Arg118Gln) c.*371G>A (n.*371G>A) n.2665G>A c.305G>A (p.Arg102Gln) c.38G>A (p.Arg13Gln) c.-244G>A (n.-244G>A) | ClinVar dbSNP |
| X | g.154032268G>A | CA256089 | MECP2 | c.316C>T (p.Arg106Trp) c.352C>T (p.Arg118Trp) c.*370C>T (n.*370C>T) n.2664C>T c.304C>T (p.Arg102Trp) c.37C>T (p.Arg13Trp) c.-245C>T (n.-245C>T) | ClinVar dbSNP COSMIC |
| X | g.154032268G>C | CA270345 | MECP2 | c.316C>G (p.Arg106Gly) c.352C>G (p.Arg118Gly) c.*370C>G (n.*370C>G) n.2664C>G c.304C>G (p.Arg102Gly) c.37C>G (p.Arg13Gly) c.-245C>G (n.-245C>G) | ClinVar dbSNP |
| X | g.154032268G= | CA2466571539 | MECP2 | c.316C= (p.Arg106=) c.352C= (p.Arg118=) c.*370C= (n.*370C=) n.2664C= c.304C= (p.Arg102=) c.37C= (p.Arg13=) c.-245C= (n.-245C=) | |
| X | g.154032268G>T | CA519705302 | MECP2 | c.316C>A (p.Arg106=) c.352C>A (p.Arg118=) c.*370C>A (n.*370C>A) n.2664C>A c.304C>A (p.Arg102=) c.37C>A (p.Arg13=) c.-245C>A (n.-245C>A) | |
| X | g.154032269T>A | CA519705309 | MECP2 | c.315A>T (p.Thr105=) c.351A>T (p.Thr117=) c.*369A>T (n.*369A>T) n.2663A>T c.303A>T (p.Thr101=) c.36A>T (p.Thr12=) c.-246A>T (n.-246A>T) | |
| X | g.154032269T>C | CA519705310 | MECP2 | c.315A>G (p.Thr105=) c.351A>G (p.Thr117=) c.*369A>G (n.*369A>G) n.2663A>G c.303A>G (p.Thr101=) c.36A>G (p.Thr12=) c.-246A>G (n.-246A>G) | ClinVar |
| X | g.154032269T>G | CA519705306 | MECP2 | c.315A>C (p.Thr105=) c.351A>C (p.Thr117=) c.*369A>C (n.*369A>C) n.2663A>C c.303A>C (p.Thr101=) c.36A>C (p.Thr12=) c.-246A>C (n.-246A>C) | |
| X | g.154032269dup | CA270344 | MECP2 | c.315dup (p.Arg106ThrfsTer4) c.351dup (p.Arg118ThrfsTer4) c.*369dup (n.*369dup) n.2663dup c.303dup (p.Arg102ThrfsTer4) c.36dup (p.Arg13ThrfsTer4) c.-246dup (n.-246dup) | ClinVar dbSNP |
| X | g.154032270G>A | CA415176846 | MECP2 | c.314C>T (p.Thr105Ile) c.350C>T (p.Thr117Ile) c.*368C>T (n.*368C>T) n.2662C>T c.302C>T (p.Thr101Ile) c.35C>T (p.Thr12Ile) c.-247C>T (n.-247C>T) | |
| X | g.154032270G>C | CA415176847 | MECP2 | c.314C>G (p.Thr105Arg) c.350C>G (p.Thr117Arg) c.*368C>G (n.*368C>G) n.2662C>G c.302C>G (p.Thr101Arg) c.35C>G (p.Thr12Arg) c.-247C>G (n.-247C>G) | |
| X | g.154032270G>T | CA415176848 | MECP2 | c.314C>A (p.Thr105Lys) c.350C>A (p.Thr117Lys) c.*368C>A (n.*368C>A) n.2662C>A c.302C>A (p.Thr101Lys) c.35C>A (p.Thr12Lys) c.-247C>A (n.-247C>A) | |
| X | g.154032271T>A | CA415176850 | MECP2 | c.313A>T (p.Thr105Ser) c.349A>T (p.Thr117Ser) c.*367A>T (n.*367A>T) n.2661A>T c.301A>T (p.Thr101Ser) c.34A>T (p.Thr12Ser) c.-248A>T (n.-248A>T) | |
| X | g.154032271T>C | CA415176852 | MECP2 | c.313A>G (p.Thr105Ala) c.349A>G (p.Thr117Ala) c.*367A>G (n.*367A>G) n.2661A>G c.301A>G (p.Thr101Ala) c.34A>G (p.Thr12Ala) c.-248A>G (n.-248A>G) | |
| X | g.154032271T>G | CA16609354 | MECP2 | c.313A>C (p.Thr105Pro) c.349A>C (p.Thr117Pro) c.*367A>C (n.*367A>C) n.2661A>C c.301A>C (p.Thr101Pro) c.34A>C (p.Thr12Pro) c.-248A>C (n.-248A>C) | ClinVar dbSNP |
| X | g.154032271T= | CA2466571540 | MECP2 | c.313A= (p.Thr105=) c.349A= (p.Thr117=) c.*367A= (n.*367A=) n.2661A= c.301A= (p.Thr101=) c.34A= (p.Thr12=) c.-248A= (n.-248A=) | |
| X | g.154032272C>A | CA415176854 | MECP2 | c.312G>T (p.Trp104Cys) c.348G>T (p.Trp116Cys) c.*366G>T (n.*366G>T) n.2660G>T c.300G>T (p.Trp100Cys) c.33G>T (p.Trp11Cys) c.-249G>T (n.-249G>T) | ClinVar dbSNP |
| X | g.154032272C= | CA2466571541 | MECP2 | c.312G= (p.Trp104=) c.348G= (p.Trp116=) c.*366G= (n.*366G=) n.2660G= c.300G= (p.Trp100=) c.33G= (p.Trp11=) c.-249G= (n.-249G=) | |
| X | g.154032272C>G | CA415176857 | MECP2 | c.312G>C (p.Trp104Cys) c.348G>C (p.Trp116Cys) c.*366G>C (n.*366G>C) n.2660G>C c.300G>C (p.Trp100Cys) c.33G>C (p.Trp11Cys) c.-249G>C (n.-249G>C) | |
| X | g.154032272C>T | CA415176860 | MECP2 | c.312G>A (p.Trp104Ter) c.348G>A (p.Trp116Ter) c.*366G>A (n.*366G>A) n.2660G>A c.300G>A (p.Trp100Ter) c.33G>A (p.Trp11Ter) c.-249G>A (n.-249G>A) | |
| X | g.154032273C>A | CA415176861 | MECP2 | c.311G>T (p.Trp104Leu) c.347G>T (p.Trp116Leu) c.*365G>T (n.*365G>T) n.2659G>T c.299G>T (p.Trp100Leu) c.32G>T (p.Trp11Leu) c.-250G>T (n.-250G>T) | |
| X | g.154032273C= | CA2466571542 | MECP2 | c.311G= (p.Trp104=) c.347G= (p.Trp116=) c.*365G= (n.*365G=) n.2659G= c.299G= (p.Trp100=) c.32G= (p.Trp11=) c.-250G= (n.-250G=) | |
| X | g.154032273C>G | CA415176863 | MECP2 | c.311G>C (p.Trp104Ser) c.347G>C (p.Trp116Ser) c.*365G>C (n.*365G>C) n.2659G>C c.299G>C (p.Trp100Ser) c.32G>C (p.Trp11Ser) c.-250G>C (n.-250G>C) | |
| X | g.154032273C>T | CA270340 | MECP2 | c.311G>A (p.Trp104Ter) c.347G>A (p.Trp116Ter) c.*365G>A (n.*365G>A) n.2659G>A c.299G>A (p.Trp100Ter) c.32G>A (p.Trp11Ter) c.-250G>A (n.-250G>A) | ClinVar dbSNP COSMIC |
| X | g.154032274A= | CA2466571543 | MECP2 | c.310T= (p.Trp104=) c.346T= (p.Trp116=) c.*364T= (n.*364T=) n.2658T= c.298T= (p.Trp100=) c.31T= (p.Trp11=) c.-251T= (n.-251T=) | |
| X | g.154032274A>C | CA415176868 | MECP2 | c.310T>G (p.Trp104Gly) c.346T>G (p.Trp116Gly) c.*364T>G (n.*364T>G) n.2658T>G c.298T>G (p.Trp100Gly) c.31T>G (p.Trp11Gly) c.-251T>G (n.-251T>G) | ClinVar |
| X | g.154032274A>G | CA270337 | MECP2 | c.310T>C (p.Trp104Arg) c.346T>C (p.Trp116Arg) c.*364T>C (n.*364T>C) n.2658T>C c.298T>C (p.Trp100Arg) c.31T>C (p.Trp11Arg) c.-251T>C (n.-251T>C) | ClinVar dbSNP |
| X | g.154032274A>T | CA415176872 | MECP2 | c.310T>A (p.Trp104Arg) c.346T>A (p.Trp116Arg) c.*364T>A (n.*364T>A) n.2658T>A c.298T>A (p.Trp100Arg) c.31T>A (p.Trp11Arg) c.-251T>A (n.-251T>A) | |
| X | g.154032275G>A | CA519705321 | MECP2 | c.309C>T (p.Gly103=) c.345C>T (p.Gly115=) c.*363C>T (n.*363C>T) n.2657C>T c.297C>T (p.Gly99=) c.30C>T (p.Gly10=) c.-252C>T (n.-252C>T) | |
| X | g.154032275G>C | CA519705324 | MECP2 | c.309C>G (p.Gly103=) c.345C>G (p.Gly115=) c.*363C>G (n.*363C>G) n.2657C>G c.297C>G (p.Gly99=) c.30C>G (p.Gly10=) c.-252C>G (n.-252C>G) | |
| X | g.154032275G>T | CA519705323 | MECP2 | c.309C>A (p.Gly103=) c.345C>A (p.Gly115=) c.*363C>A (n.*363C>A) n.2657C>A c.297C>A (p.Gly99=) c.30C>A (p.Gly10=) c.-252C>A (n.-252C>A) | |
| X | g.154032276C>A | CA415176882 | MECP2 | c.308G>T (p.Gly103Val) c.344G>T (p.Gly115Val) c.*362G>T (n.*362G>T) n.2656G>T c.296G>T (p.Gly99Val) c.29G>T (p.Gly10Val) c.-253G>T (n.-253G>T) | |
| X | g.154032276C= | CA2466571544 | MECP2 | c.308G= (p.Gly103=) c.344G= (p.Gly115=) c.*362G= (n.*362G=) n.2656G= c.296G= (p.Gly99=) c.29G= (p.Gly10=) c.-253G= (n.-253G=) | |
| X | g.154032276C>G | CA415176878 | MECP2 | c.308G>C (p.Gly103Ala) c.344G>C (p.Gly115Ala) c.*362G>C (n.*362G>C) n.2656G>C c.296G>C (p.Gly99Ala) c.29G>C (p.Gly10Ala) c.-253G>C (n.-253G>C) | |
| X | g.154032276C>T | CA270334 | MECP2 | c.308G>A (p.Gly103Asp) c.344G>A (p.Gly115Asp) c.*362G>A (n.*362G>A) n.2656G>A c.296G>A (p.Gly99Asp) c.29G>A (p.Gly10Asp) c.-253G>A (n.-253G>A) | ClinVar dbSNP |
| X | g.154032277C>A | CA415176884 | MECP2 | c.307G>T (p.Gly103Cys) c.343G>T (p.Gly115Cys) c.*361G>T (n.*361G>T) n.2655G>T c.295G>T (p.Gly99Cys) c.28G>T (p.Gly10Cys) c.-254G>T (n.-254G>T) | |
| X | g.154032277C= | CA2466571545 | MECP2 | c.307G= (p.Gly103=) c.343G= (p.Gly115=) c.*361G= (n.*361G=) n.2655G= c.295G= (p.Gly99=) c.28G= (p.Gly10=) c.-254G= (n.-254G=) | |
| X | g.154032277C>G | CA415176890 | MECP2 | c.307G>C (p.Gly103Arg) c.343G>C (p.Gly115Arg) c.*361G>C (n.*361G>C) n.2655G>C c.295G>C (p.Gly99Arg) c.28G>C (p.Gly10Arg) c.-254G>C (n.-254G>C) | |
| X | g.154032277C>T | CA415176886 | MECP2 | c.307G>A (p.Gly103Ser) c.343G>A (p.Gly115Ser) c.*361G>A (n.*361G>A) n.2655G>A c.295G>A (p.Gly99Ser) c.28G>A (p.Gly10Ser) c.-254G>A (n.-254G>A) | ClinVar dbSNP |
| X | g.154032278T>A | CA415176893 | MECP2 | c.306A>T (p.Glu102Asp) c.342A>T (p.Glu114Asp) c.*360A>T (n.*360A>T) n.2654A>T c.294A>T (p.Glu98Asp) c.27A>T (p.Glu9Asp) c.-255A>T (n.-255A>T) | |
| X | g.154032278T>C | CA519705327 | MECP2 | c.306A>G (p.Glu102=) c.342A>G (p.Glu114=) c.*360A>G (n.*360A>G) n.2654A>G c.294A>G (p.Glu98=) c.27A>G (p.Glu9=) c.-255A>G (n.-255A>G) | |
| X | g.154032278T>G | CA415176897 | MECP2 | c.306A>C (p.Glu102Asp) c.342A>C (p.Glu114Asp) c.*360A>C (n.*360A>C) n.2654A>C c.294A>C (p.Glu98Asp) c.27A>C (p.Glu9Asp) c.-255A>C (n.-255A>C) | |
| X | g.154032279T>A | CA415176899 | MECP2 | c.305A>T (p.Glu102Val) c.341A>T (p.Glu114Val) c.*359A>T (n.*359A>T) n.2653A>T c.293A>T (p.Glu98Val) c.26A>T (p.Glu9Val) c.-256A>T (n.-256A>T) | |
| X | g.154032279T>C | CA415176901 | MECP2 | c.305A>G (p.Glu102Gly) c.341A>G (p.Glu114Gly) c.*359A>G (n.*359A>G) n.2653A>G c.293A>G (p.Glu98Gly) c.26A>G (p.Glu9Gly) c.-256A>G (n.-256A>G) | |
| X | g.154032279T>G | CA415176902 | MECP2 | c.305A>C (p.Glu102Ala) c.341A>C (p.Glu114Ala) c.*359A>C (n.*359A>C) n.2653A>C c.293A>C (p.Glu98Ala) c.26A>C (p.Glu9Ala) c.-256A>C (n.-256A>C) | |
| X | g.154032280C>A | CA415176903 | MECP2 | c.304G>T (p.Glu102Ter) c.340G>T (p.Glu114Ter) c.*358G>T (n.*358G>T) n.2652G>T c.292G>T (p.Glu98Ter) c.25G>T (p.Glu9Ter) c.-257G>T (n.-257G>T) | |
| X | g.154032280C>G | CA415176904 | MECP2 | c.304G>C (p.Glu102Gln) c.340G>C (p.Glu114Gln) c.*358G>C (n.*358G>C) n.2652G>C c.292G>C (p.Glu98Gln) c.25G>C (p.Glu9Gln) c.-257G>C (n.-257G>C) | |
| X | g.154032280C>T | CA415176905 | MECP2 | c.304G>A (p.Glu102Lys) c.340G>A (p.Glu114Lys) c.*358G>A (n.*358G>A) n.2652G>A c.292G>A (p.Glu98Lys) c.25G>A (p.Glu9Lys) c.-257G>A (n.-257G>A) | |
| X | g.154032281A>C | CA519705337 | MECP2 | c.303T>G (p.Pro101=) c.339T>G (p.Pro113=) c.*357T>G (n.*357T>G) n.2651T>G c.291T>G (p.Pro97=) c.24T>G (p.Pro8=) c.-258T>G (n.-258T>G) | |
| X | g.154032281A>G | CA519705338 | MECP2 | c.303T>C (p.Pro101=) c.339T>C (p.Pro113=) c.*357T>C (n.*357T>C) n.2651T>C c.291T>C (p.Pro97=) c.24T>C (p.Pro8=) c.-258T>C (n.-258T>C) | |
| X | g.154032281A>T | CA519705339 | MECP2 | c.303T>A (p.Pro101=) c.339T>A (p.Pro113=) c.*357T>A (n.*357T>A) n.2651T>A c.291T>A (p.Pro97=) c.24T>A (p.Pro8=) c.-258T>A (n.-258T>A) | |
| X | g.154032282G>A | CA270332 | MECP2 | c.302C>T (p.Pro101Leu) c.338C>T (p.Pro113Leu) c.*356C>T (n.*356C>T) n.2650C>T c.290C>T (p.Pro97Leu) c.23C>T (p.Pro8Leu) c.-259C>T (n.-259C>T) | ClinVar dbSNP |
| X | g.154032282G>C | CA274626 | MECP2 | c.302C>G (p.Pro101Arg) c.338C>G (p.Pro113Arg) c.*356C>G (n.*356C>G) n.2650C>G c.290C>G (p.Pro97Arg) c.23C>G (p.Pro8Arg) c.-259C>G (n.-259C>G) | ClinVar dbSNP |
| X | g.154032282G= | CA2466571546 | MECP2 | c.302C= (p.Pro101=) c.338C= (p.Pro113=) c.*356C= (n.*356C=) n.2650C= c.290C= (p.Pro97=) c.23C= (p.Pro8=) c.-259C= (n.-259C=) | |
| X | g.154032282G>T | CA270330 | MECP2 | c.302C>A (p.Pro101His) c.338C>A (p.Pro113His) c.*356C>A (n.*356C>A) n.2650C>A c.290C>A (p.Pro97His) c.23C>A (p.Pro8His) c.-259C>A (n.-259C>A) | ClinVar dbSNP |
| X | g.154032283G>A | CA270328 | MECP2 | c.301C>T (p.Pro101Ser) c.337C>T (p.Pro113Ser) c.*355C>T (n.*355C>T) n.2649C>T c.289C>T (p.Pro97Ser) c.22C>T (p.Pro8Ser) c.-260C>T (n.-260C>T) | ClinVar dbSNP |
| X | g.154032283G>C | CA415176910 | MECP2 | c.301C>G (p.Pro101Ala) c.337C>G (p.Pro113Ala) c.*355C>G (n.*355C>G) n.2649C>G c.289C>G (p.Pro97Ala) c.22C>G (p.Pro8Ala) c.-260C>G (n.-260C>G) | |
| X | g.154032283G= | CA2466571547 | MECP2 | c.301C= (p.Pro101=) c.337C= (p.Pro113=) c.*355C= (n.*355C=) n.2649C= c.289C= (p.Pro97=) c.22C= (p.Pro8=) c.-260C= (n.-260C=) | |
| X | g.154032283G>T | CA415176913 | MECP2 | c.301C>A (p.Pro101Thr) c.337C>A (p.Pro113Thr) c.*355C>A (n.*355C>A) n.2649C>A c.289C>A (p.Pro97Thr) c.22C>A (p.Pro8Thr) c.-260C>A (n.-260C>A) | ClinVar dbSNP |
| X | g.154032284C>A | CA519705349 | MECP2 | c.300G>T (p.Leu100=) c.336G>T (p.Leu112=) c.*354G>T (n.*354G>T) n.2648G>T c.288G>T (p.Leu96=) c.21G>T (p.Leu7=) c.-261G>T (n.-261G>T) | gnomAD v4 |
| X | g.154032284C>G | CA519705346 | MECP2 | c.300G>C (p.Leu100=) c.336G>C (p.Leu112=) c.*354G>C (n.*354G>C) n.2648G>C c.288G>C (p.Leu96=) c.21G>C (p.Leu7=) c.-261G>C (n.-261G>C) | |
| X | g.154032284C>T | CA519705347 | MECP2 | c.300G>A (p.Leu100=) c.336G>A (p.Leu112=) c.*354G>A (n.*354G>A) n.2648G>A c.288G>A (p.Leu96=) c.21G>A (p.Leu7=) c.-261G>A (n.-261G>A) | ClinVar gnomAD v4 |
| X | g.154032285A= | CA2466571548 | MECP2 | c.299T= (p.Leu100=) c.335T= (p.Leu112=) c.*353T= (n.*353T=) n.2647T= c.287T= (p.Leu96=) c.20T= (p.Leu7=) c.-262T= (n.-262T=) | |
| X | g.154032285A>C | CA270326 | MECP2 | c.299T>G (p.Leu100Arg) c.335T>G (p.Leu112Arg) c.*353T>G (n.*353T>G) n.2647T>G c.287T>G (p.Leu96Arg) c.20T>G (p.Leu7Arg) c.-262T>G (n.-262T>G) | ClinVar dbSNP |
| X | g.154032285A>G | CA415176928 | MECP2 | c.299T>C (p.Leu100Pro) c.335T>C (p.Leu112Pro) c.*353T>C (n.*353T>C) n.2647T>C c.287T>C (p.Leu96Pro) c.20T>C (p.Leu7Pro) c.-262T>C (n.-262T>C) | |
| X | g.154032285A>T | CA415176929 | MECP2 | c.299T>A (p.Leu100Gln) c.335T>A (p.Leu112Gln) c.*353T>A (n.*353T>A) n.2647T>A c.287T>A (p.Leu96Gln) c.20T>A (p.Leu7Gln) c.-262T>A (n.-262T>A) | |
| X | g.154032286G>A | CA519705352 | MECP2 | c.298C>T (p.Leu100=) c.334C>T (p.Leu112=) c.*352C>T (n.*352C>T) n.2646C>T c.286C>T (p.Leu96=) c.19C>T (p.Leu7=) c.-263C>T (n.-263C>T) | |
| X | g.154032286G>C | CA198822 | MECP2 | c.298C>G (p.Leu100Val) c.334C>G (p.Leu112Val) c.*352C>G (n.*352C>G) n.2646C>G c.286C>G (p.Leu96Val) c.19C>G (p.Leu7Val) c.-263C>G (n.-263C>G) | ClinVar dbSNP |
| X | g.154032286G= | CA2466571549 | MECP2 | c.298C= (p.Leu100=) c.334C= (p.Leu112=) c.*352C= (n.*352C=) n.2646C= c.286C= (p.Leu96=) c.19C= (p.Leu7=) c.-263C= (n.-263C=) | |
| X | g.154032286G>T | CA415176935 | MECP2 | c.298C>A (p.Leu100Met) c.334C>A (p.Leu112Met) c.*352C>A (n.*352C>A) n.2646C>A c.286C>A (p.Leu96Met) c.19C>A (p.Leu7Met) c.-263C>A (n.-263C>A) | |
| X | g.154032286_154032289delinsGGGT | CA2466571550 | MECP2 | c.295_298delinsACCC (p.Thr99=) c.331_334delinsACCC (p.Thr111=) c.*349_*352delinsACCC (n.*349_*352delinsACCC) n.2643_2646delinsACCC c.283_286delinsACCC (p.Thr95=) c.16_19delinsACCC (p.Thr6=) c.-266_-263delinsACCC (n.-266_-263delinsACCC) | |
| X | g.154032287G>A | CA519705356 | MECP2 | c.297C>T (p.Thr99=) c.333C>T (p.Thr111=) c.*351C>T (n.*351C>T) n.2645C>T c.285C>T (p.Thr95=) c.18C>T (p.Thr6=) c.-264C>T (n.-264C>T) | |
| X | g.154032287G>C | CA170284 | MECP2 | c.297C>G (p.Thr99=) c.333C>G (p.Thr111=) c.*351C>G (n.*351C>G) n.2645C>G c.285C>G (p.Thr95=) c.18C>G (p.Thr6=) c.-264C>G (n.-264C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154032287G= | CA2466571551 | MECP2 | c.297C= (p.Thr99=) c.333C= (p.Thr111=) c.*351C= (n.*351C=) n.2645C= c.285C= (p.Thr95=) c.18C= (p.Thr6=) c.-264C= (n.-264C=) | |
| X | g.154032287G>T | CA519705358 | MECP2 | c.297C>A (p.Thr99=) c.333C>A (p.Thr111=) c.*351C>A (n.*351C>A) n.2645C>A c.285C>A (p.Thr95=) c.18C>A (p.Thr6=) c.-264C>A (n.-264C>A) | |
| X | g.154032289_154032291del | CA270325 | MECP2 | c.295_297del (p.Thr99del) c.331_333del (p.Thr111del) c.*349_*351del (n.*349_*351del) n.2643_2645del c.283_285del (p.Thr95del) c.16_18del (p.Thr6del) c.-266_-264del (n.-266_-264del) | ClinVar dbSNP |
| X | g.154032288G>A | CA415176948 | MECP2 | c.296C>T (p.Thr99Ile) c.332C>T (p.Thr111Ile) c.*350C>T (n.*350C>T) n.2644C>T c.284C>T (p.Thr95Ile) c.17C>T (p.Thr6Ile) c.-265C>T (n.-265C>T) | |
| X | g.154032288G>C | CA415176949 | MECP2 | c.296C>G (p.Thr99Ser) c.332C>G (p.Thr111Ser) c.*350C>G (n.*350C>G) n.2644C>G c.284C>G (p.Thr95Ser) c.17C>G (p.Thr6Ser) c.-265C>G (n.-265C>G) | |
| X | g.154032288G= | CA2466571552 | MECP2 | c.296C= (p.Thr99=) c.332C= (p.Thr111=) c.*350C= (n.*350C=) n.2644C= c.284C= (p.Thr95=) c.17C= (p.Thr6=) c.-265C= (n.-265C=) | |
| X | g.154032288G>T | CA415176950 | MECP2 | c.296C>A (p.Thr99Asn) c.332C>A (p.Thr111Asn) c.*350C>A (n.*350C>A) n.2644C>A c.284C>A (p.Thr95Asn) c.17C>A (p.Thr6Asn) c.-265C>A (n.-265C>A) | |
| X | g.154032289T>A | CA415176959 | MECP2 | c.295A>T (p.Thr99Ser) c.331A>T (p.Thr111Ser) c.*349A>T (n.*349A>T) n.2643A>T c.283A>T (p.Thr95Ser) c.16A>T (p.Thr6Ser) c.-266A>T (n.-266A>T) | |
| X | g.154032289T>C | CA415176955 | MECP2 | c.295A>G (p.Thr99Ala) c.331A>G (p.Thr111Ala) c.*349A>G (n.*349A>G) n.2643A>G c.283A>G (p.Thr95Ala) c.16A>G (p.Thr6Ala) c.-266A>G (n.-266A>G) | |
| X | g.154032289T>G | CA415176953 | MECP2 | c.295A>C (p.Thr99Pro) c.331A>C (p.Thr111Pro) c.*349A>C (n.*349A>C) n.2643A>C c.283A>C (p.Thr95Pro) c.16A>C (p.Thr6Pro) c.-266A>C (n.-266A>C) | ClinVar dbSNP |
| X | g.154032289T= | CA2466571553 | MECP2 | c.295A= (p.Thr99=) c.331A= (p.Thr111=) c.*349A= (n.*349A=) n.2643A= c.283A= (p.Thr95=) c.16A= (p.Thr6=) c.-266A= (n.-266A=) | |
| X | g.154032289dup | CA915952031 | MECP2 | c.295dup (p.Thr99AsnfsTer4) c.331dup (p.Thr111AsnfsTer4) c.*349dup (n.*349dup) n.2643dup c.283dup (p.Thr95AsnfsTer4) c.16dup (p.Thr6AsnfsTer4) c.-266dup (n.-266dup) | ClinVar dbSNP |
| X | g.154032290G>A | CA519705371 | MECP2 | c.294C>T (p.Pro98=) c.330C>T (p.Pro110=) c.*348C>T (n.*348C>T) n.2642C>T c.282C>T (p.Pro94=) c.15C>T (p.Pro5=) c.-267C>T (n.-267C>T) | |
| X | g.154032290G>C | CA519705367 | MECP2 | c.294C>G (p.Pro98=) c.330C>G (p.Pro110=) c.*348C>G (n.*348C>G) n.2642C>G c.282C>G (p.Pro94=) c.15C>G (p.Pro5=) c.-267C>G (n.-267C>G) | |
| X | g.154032290G>T | CA519705368 | MECP2 | c.294C>A (p.Pro98=) c.330C>A (p.Pro110=) c.*348C>A (n.*348C>A) n.2642C>A c.282C>A (p.Pro94=) c.15C>A (p.Pro5=) c.-267C>A (n.-267C>A) | |
| X | g.154032291G>A | CA415176968 | MECP2 | c.293C>T (p.Pro98Leu) c.329C>T (p.Pro110Leu) c.*347C>T (n.*347C>T) n.2641C>T c.281C>T (p.Pro94Leu) c.14C>T (p.Pro5Leu) c.-268C>T (n.-268C>T) | |
| X | g.154032291G>C | CA415176961 | MECP2 | c.293C>G (p.Pro98Arg) c.329C>G (p.Pro110Arg) c.*347C>G (n.*347C>G) n.2641C>G c.281C>G (p.Pro94Arg) c.14C>G (p.Pro5Arg) c.-268C>G (n.-268C>G) | |
| X | g.154032291G>T | CA415176964 | MECP2 | c.293C>A (p.Pro98His) c.329C>A (p.Pro110His) c.*347C>A (n.*347C>A) n.2641C>A c.281C>A (p.Pro94His) c.14C>A (p.Pro5His) c.-268C>A (n.-268C>A) | |
| X | g.154032292G>A | CA415176982 | MECP2 | c.292C>T (p.Pro98Ser) c.328C>T (p.Pro110Ser) c.*346C>T (n.*346C>T) n.2640C>T c.280C>T (p.Pro94Ser) c.13C>T (p.Pro5Ser) c.-269C>T (n.-269C>T) | |
| X | g.154032292G>C | CA415176986 | MECP2 | c.292C>G (p.Pro98Ala) c.328C>G (p.Pro110Ala) c.*346C>G (n.*346C>G) n.2640C>G c.280C>G (p.Pro94Ala) c.13C>G (p.Pro5Ala) c.-269C>G (n.-269C>G) | |
| X | g.154032292G>T | CA415176988 | MECP2 | c.292C>A (p.Pro98Thr) c.328C>A (p.Pro110Thr) c.*346C>A (n.*346C>A) n.2640C>A c.280C>A (p.Pro94Thr) c.13C>A (p.Pro5Thr) c.-269C>A (n.-269C>A) | |
| X | g.154032293G>A | CA519705379 | MECP2 | c.291C>T (p.Asp97=) c.327C>T (p.Asp109=) c.*345C>T (n.*345C>T) n.2639C>T c.279C>T (p.Asp93=) c.12C>T (p.Asp4=) c.-270C>T (n.-270C>T) | |
| X | g.154032293G>C | CA415176991 | MECP2 | c.291C>G (p.Asp97Glu) c.327C>G (p.Asp109Glu) c.*345C>G (n.*345C>G) n.2639C>G c.279C>G (p.Asp93Glu) c.12C>G (p.Asp4Glu) c.-270C>G (n.-270C>G) | |
| X | g.154032293G= | CA2466571554 | MECP2 | c.291C= (p.Asp97=) c.327C= (p.Asp109=) c.*345C= (n.*345C=) n.2639C= c.279C= (p.Asp93=) c.12C= (p.Asp4=) c.-270C= (n.-270C=) | |
| X | g.154032293G>T | CA270323 | MECP2 | c.291C>A (p.Asp97Glu) c.327C>A (p.Asp109Glu) c.*345C>A (n.*345C>A) n.2639C>A c.279C>A (p.Asp93Glu) c.12C>A (p.Asp4Glu) c.-270C>A (n.-270C>A) | ClinVar dbSNP |
| X | g.154032294T>A | CA415176997 | MECP2 | c.290A>T (p.Asp97Val) c.326A>T (p.Asp109Val) c.*344A>T (n.*344A>T) n.2638A>T c.278A>T (p.Asp93Val) c.11A>T (p.Asp4Val) c.-271A>T (n.-271A>T) | |
| X | g.154032294T>C | CA415176999 | MECP2 | c.290A>G (p.Asp97Gly) c.326A>G (p.Asp109Gly) c.*344A>G (n.*344A>G) n.2638A>G c.278A>G (p.Asp93Gly) c.11A>G (p.Asp4Gly) c.-271A>G (n.-271A>G) | |
| X | g.154032294T>G | CA415177000 | MECP2 | c.290A>C (p.Asp97Ala) c.326A>C (p.Asp109Ala) c.*344A>C (n.*344A>C) n.2638A>C c.278A>C (p.Asp93Ala) c.11A>C (p.Asp4Ala) c.-271A>C (n.-271A>C) | |
| X | g.154032295C>A | CA270316 | MECP2 | c.289G>T (p.Asp97Tyr) c.325G>T (p.Asp109Tyr) c.*343G>T (n.*343G>T) n.2637G>T c.277G>T (p.Asp93Tyr) c.10G>T (p.Asp4Tyr) c.-272G>T (n.-272G>T) | ClinVar dbSNP |
| X | g.154032295C= | CA2466571555 | MECP2 | c.289G= (p.Asp97=) c.325G= (p.Asp109=) c.*343G= (n.*343G=) n.2637G= c.277G= (p.Asp93=) c.10G= (p.Asp4=) c.-272G= (n.-272G=) | |
| X | g.154032295C>G | CA415177003 | MECP2 | c.289G>C (p.Asp97His) c.325G>C (p.Asp109His) c.*343G>C (n.*343G>C) n.2637G>C c.277G>C (p.Asp93His) c.10G>C (p.Asp4His) c.-272G>C (n.-272G>C) | |
| X | g.154032295C>T | CA415177006 | MECP2 | c.289G>A (p.Asp97Asn) c.325G>A (p.Asp109Asn) c.*343G>A (n.*343G>A) n.2637G>A c.277G>A (p.Asp93Asn) c.10G>A (p.Asp4Asn) c.-272G>A (n.-272G>A) | |
| X | g.154032296A>C | CA415177009 | MECP2 | c.288T>G (p.Asp96Glu) c.324T>G (p.Asp108Glu) c.*342T>G (n.*342T>G) n.2636T>G c.276T>G (p.Asp92Glu) c.9T>G (p.Asp3Glu) c.-273T>G (n.-273T>G) | gnomAD v4 |
| X | g.154032296A>G | CA519705392 | MECP2 | c.288T>C (p.Asp96=) c.324T>C (p.Asp108=) c.*342T>C (n.*342T>C) n.2636T>C c.276T>C (p.Asp92=) c.9T>C (p.Asp3=) c.-273T>C (n.-273T>C) | |
| X | g.154032296A>T | CA415177012 | MECP2 | c.288T>A (p.Asp96Glu) c.324T>A (p.Asp108Glu) c.*342T>A (n.*342T>A) n.2636T>A c.276T>A (p.Asp92Glu) c.9T>A (p.Asp3Glu) c.-273T>A (n.-273T>A) | |
| X | g.154032297T>A | CA415177015 | MECP2 | c.287A>T (p.Asp96Val) c.323A>T (p.Asp108Val) c.*341A>T (n.*341A>T) n.2635A>T c.275A>T (p.Asp92Val) c.8A>T (p.Asp3Val) c.-274A>T (n.-274A>T) | |
| X | g.154032297T>C | CA415177019 | MECP2 | c.287A>G (p.Asp96Gly) c.323A>G (p.Asp108Gly) c.*341A>G (n.*341A>G) n.2635A>G c.275A>G (p.Asp92Gly) c.8A>G (p.Asp3Gly) c.-274A>G (n.-274A>G) | |
| X | g.154032297T>G | CA415177025 | MECP2 | c.287A>C (p.Asp96Ala) c.323A>C (p.Asp108Ala) c.*341A>C (n.*341A>C) n.2635A>C c.275A>C (p.Asp92Ala) c.8A>C (p.Asp3Ala) c.-274A>C (n.-274A>C) | |
| X | g.154032297_154032301delinsTCATA | CA2466571556 | MECP2 | c.283_287delinsTATGA (p.Tyr95=) c.319_323delinsTATGA (p.Tyr107=) c.*337_*341delinsTATGA (n.*337_*341delinsTATGA) n.2631_2635delinsTATGA c.271_275delinsTATGA (p.Tyr91=) c.4_8delinsTATGA (p.Tyr2=) c.-278_-274delinsTATGA (n.-278_-274delinsTATGA) | |
| X | g.154032298C>A | CA415177028 | MECP2 | c.286G>T (p.Asp96Tyr) c.322G>T (p.Asp108Tyr) c.*340G>T (n.*340G>T) n.2634G>T c.274G>T (p.Asp92Tyr) c.7G>T (p.Asp3Tyr) c.-275G>T (n.-275G>T) | |
| X | g.154032298C>G | CA415177030 | MECP2 | c.286G>C (p.Asp96His) c.322G>C (p.Asp108His) c.*340G>C (n.*340G>C) n.2634G>C c.274G>C (p.Asp92His) c.7G>C (p.Asp3His) c.-275G>C (n.-275G>C) | gnomAD v4 |
| X | g.154032298C>T | CA415177031 | MECP2 | c.286G>A (p.Asp96Asn) c.322G>A (p.Asp108Asn) c.*340G>A (n.*340G>A) n.2634G>A c.274G>A (p.Asp92Asn) c.7G>A (p.Asp3Asn) c.-275G>A (n.-275G>A) | |
| X | g.154032301_154032304del | CA658824341 | MECP2 | c.283_286del (p.Tyr95MetfsTer29) c.319_322del (p.Tyr107MetfsTer29) c.*337_*340del (n.*337_*340del) n.2631_2634del c.271_274del (p.Tyr91MetfsTer29) c.4_7del (p.Tyr2MetfsTer29) c.-278_-275del (n.-278_-275del) | ClinVar dbSNP |
| X | g.154032299A>C | CA415177035 | MECP2 | c.285T>G (p.Tyr95Ter) c.321T>G (p.Tyr107Ter) c.*339T>G (n.*339T>G) n.2633T>G c.273T>G (p.Tyr91Ter) c.6T>G (p.Tyr2Ter) c.-276T>G (n.-276T>G) | |
| X | g.154032299A>G | CA519705406 | MECP2 | c.285T>C (p.Tyr95=) c.321T>C (p.Tyr107=) c.*339T>C (n.*339T>C) n.2633T>C c.273T>C (p.Tyr91=) c.6T>C (p.Tyr2=) c.-276T>C (n.-276T>C) | |
| X | g.154032299A>T | CA415177037 | MECP2 | c.285T>A (p.Tyr95Ter) c.321T>A (p.Tyr107Ter) c.*339T>A (n.*339T>A) n.2633T>A c.273T>A (p.Tyr91Ter) c.6T>A (p.Tyr2Ter) c.-276T>A (n.-276T>A) | |
| X | g.154032300T>A | CA415177040 | MECP2 | c.284A>T (p.Tyr95Phe) c.320A>T (p.Tyr107Phe) c.*338A>T (n.*338A>T) n.2632A>T c.272A>T (p.Tyr91Phe) c.5A>T (p.Tyr2Phe) c.-277A>T (n.-277A>T) | |
| X | g.154032300T>C | CA415177042 | MECP2 | c.284A>G (p.Tyr95Cys) c.320A>G (p.Tyr107Cys) c.*338A>G (n.*338A>G) n.2632A>G c.272A>G (p.Tyr91Cys) c.5A>G (p.Tyr2Cys) c.-277A>G (n.-277A>G) | |
| X | g.154032300T>G | CA415177045 | MECP2 | c.284A>C (p.Tyr95Ser) c.320A>C (p.Tyr107Ser) c.*338A>C (n.*338A>C) n.2632A>C c.272A>C (p.Tyr91Ser) c.5A>C (p.Tyr2Ser) c.-277A>C (n.-277A>C) | |
| X | g.154032301A>C | CA415177061 | MECP2 | c.283T>G (p.Tyr95Asp) c.319T>G (p.Tyr107Asp) c.*337T>G (n.*337T>G) n.2631T>G c.271T>G (p.Tyr91Asp) c.4T>G (p.Tyr2Asp) c.-278T>G (n.-278T>G) | |
| X | g.154032301A>G | CA415177064 | MECP2 | c.283T>C (p.Tyr95His) c.319T>C (p.Tyr107His) c.*337T>C (n.*337T>C) n.2631T>C c.271T>C (p.Tyr91His) c.4T>C (p.Tyr2His) c.-278T>C (n.-278T>C) | |
| X | g.154032301A>T | CA415177058 | MECP2 | c.283T>A (p.Tyr95Asn) c.319T>A (p.Tyr107Asn) c.*337T>A (n.*337T>A) n.2631T>A c.271T>A (p.Tyr91Asn) c.4T>A (p.Tyr2Asn) c.-278T>A (n.-278T>A) | |
| X | g.154032302C>A | CA415177068 | MECP2 | c.282G>T (p.Met94Ile) c.318G>T (p.Met106Ile) c.*336G>T (n.*336G>T) n.2630G>T c.270G>T (p.Met90Ile) c.3G>T (p.Met1Ile) c.-279G>T (n.-279G>T) | COSMIC |
| X | g.154032302C>G | CA415177071 | MECP2 | c.282G>C (p.Met94Ile) c.318G>C (p.Met106Ile) c.*336G>C (n.*336G>C) n.2630G>C c.270G>C (p.Met90Ile) c.3G>C (p.Met1Ile) c.-279G>C (n.-279G>C) | |
| X | g.154032302C>T | CA415177074 | MECP2 | c.282G>A (p.Met94Ile) c.318G>A (p.Met106Ile) c.*336G>A (n.*336G>A) n.2630G>A c.270G>A (p.Met90Ile) c.3G>A (p.Met1Ile) c.-279G>A (n.-279G>A) | |
| X | g.154032303A>C | CA415177078 | MECP2 | c.281T>G (p.Met94Arg) c.317T>G (p.Met106Arg) c.*335T>G (n.*335T>G) n.2629T>G c.269T>G (p.Met90Arg) c.2T>G (p.Met1Arg) c.-280T>G (n.-280T>G) | |
| X | g.154032303A>G | CA415177081 | MECP2 | c.281T>C (p.Met94Thr) c.317T>C (p.Met106Thr) c.*335T>C (n.*335T>C) n.2629T>C c.269T>C (p.Met90Thr) c.2T>C (p.Met1Thr) c.-280T>C (n.-280T>C) | |
| X | g.154032303A>T | CA415177084 | MECP2 | c.281T>A (p.Met94Lys) c.317T>A (p.Met106Lys) c.*335T>A (n.*335T>A) n.2629T>A c.269T>A (p.Met90Lys) c.2T>A (p.Met1Lys) c.-280T>A (n.-280T>A) | |
| X | g.154032304T>A | CA415177088 | MECP2 | c.280A>T (p.Met94Leu) c.316A>T (p.Met106Leu) c.*334A>T (n.*334A>T) n.2628A>T c.268A>T (p.Met90Leu) c.1A>T (p.Met1Leu) c.-281A>T (n.-281A>T) | |
| X | g.154032304T>C | CA415177090 | MECP2 | c.280A>G (p.Met94Val) c.316A>G (p.Met106Val) c.*334A>G (n.*334A>G) n.2628A>G c.268A>G (p.Met90Val) c.1A>G (p.Met1Val) c.-281A>G (n.-281A>G) | |
| X | g.154032304T>G | CA415177092 | MECP2 | c.280A>C (p.Met94Leu) c.316A>C (p.Met106Leu) c.*334A>C (n.*334A>C) n.2628A>C c.268A>C (p.Met90Leu) c.1A>C (p.Met1Leu) c.-281A>C (n.-281A>C) | |
| X | g.154032305G>A | CA170281 | MECP2 | c.279C>T (p.Pro93=) c.315C>T (p.Pro105=) c.*333C>T (n.*333C>T) n.2627C>T c.267C>T (p.Pro89=) c.-1C>T (n.-1C>T) c.-282C>T (n.-282C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154032305G>C | CA519705425 | MECP2 | c.279C>G (p.Pro93=) c.315C>G (p.Pro105=) c.*333C>G (n.*333C>G) n.2627C>G c.267C>G (p.Pro89=) c.-1C>G (n.-1C>G) c.-282C>G (n.-282C>G) | |
| X | g.154032305G= | CA2466571557 | MECP2 | c.279C= (p.Pro93=) c.315C= (p.Pro105=) c.*333C= (n.*333C=) n.2627C= c.267C= (p.Pro89=) c.-1C= (n.-1C=) c.-282C= (n.-282C=) | |
| X | g.154032305G>T | CA519705428 | MECP2 | c.279C>A (p.Pro93=) c.315C>A (p.Pro105=) c.*333C>A (n.*333C>A) n.2627C>A c.267C>A (p.Pro89=) c.-1C>A (n.-1C>A) c.-282C>A (n.-282C>A) | |
| X | g.154032306G>A | CA415177100 | MECP2 | c.278C>T (p.Pro93Leu) c.314C>T (p.Pro105Leu) c.*332C>T (n.*332C>T) n.2626C>T c.266C>T (p.Pro89Leu) c.-2C>T (n.-2C>T) c.-283C>T (n.-283C>T) | |
| X | g.154032306G>C | CA415177105 | MECP2 | c.278C>G (p.Pro93Arg) c.314C>G (p.Pro105Arg) c.*332C>G (n.*332C>G) n.2626C>G c.266C>G (p.Pro89Arg) c.-2C>G (n.-2C>G) c.-283C>G (n.-283C>G) | |
| X | g.154032306G>T | CA415177107 | MECP2 | c.278C>A (p.Pro93His) c.314C>A (p.Pro105His) c.*332C>A (n.*332C>A) n.2626C>A c.266C>A (p.Pro89His) c.-2C>A (n.-2C>A) c.-283C>A (n.-283C>A) |