| 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.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.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.154030663_154037047del | CA916084238 | MECP2 | c.27-4487_1168del c.63-4487_1204del c.63-4487_*540del c.27-4487_*540del c.-253-4487_889del c.-254+2748_889del c.-535+2748_499del c.-534-4487_499del | ClinVar |
| X | g.154030672_154039641del | CA1139667883 | MECP2 | c.27-7080_1160del c.63-7080_1196del c.63-7080_*532del c.27-7080_*532del c.-253-7080_881del c.-254+155_881del c.-535+155_491del c.-534-7080_491del | ClinVar |
| X | g.154030690_154038335del | CA915952024 | MECP2 | c.27-5778_1138del c.63-5778_1174del c.63-5778_*510del c.27-5778_*510del c.-253-5778_859del c.-254+1457_859del c.-535+1457_469del c.-534-5778_469del | ClinVar |
| X | g.154030777_154032630del | CA915952026 | MECP2 | c.27-73_1051del c.63-73_1087del c.63-73_*423del c.27-73_*423del c.-253-73_772del c.-534-73_382del | ClinVar |
| X | g.154030926_154038331delinsTGACATCAGTCCGGGCAC | CA274581 | MECP2 | c.27-5774_902delinsGTGCCCGGACTGATGTCA c.63-5774_938delinsGTGCCCGGACTGATGTCA c.63-5774_*274delinsGTGCCCGGACTGATGTCA c.15-5774_888delinsGTGCCCGGACTGATGTCA c.27-5774_*274delinsGTGCCCGGACTGATGTCA c.-253-5774_623delinsGTGCCCGGACTGATGTCA c.-254+1461_623delinsGTGCCCGGACTGATGTCA c.-535+1461_233delinsGTGCCCGGACTGATGTCA c.-534-5774_233delinsGTGCCCGGACTGATGTCA | ClinVar |
| X | g.154031347_154035447del | CA891863116 | MECP2 | c.27-2890_481del c.63-2890_517del c.63-2890_468+49del n.2375-2890_2829del c.15-2890_469del c.27-2890_432+49del c.-253-2890_202del c.-534-2890_-129+49del | ClinVar |
| X | g.154032345_154032355delinsGAGGCAGAAGC | CA2466571579 | MECP2 | c.229_239delinsGCTTCTGCCTC (p.Ala77=) c.265_275delinsGCTTCTGCCTC (p.Ala89=) c.*283_*293delinsGCTTCTGCCTC (n.*283_*293delinsGCTTCTGCCTC) n.2577_2587delinsGCTTCTGCCTC c.217_227delinsGCTTCTGCCTC (p.Ala73=) c.-51_-41delinsGCTTCTGCCTC (n.-51_-41delinsGCTTCTGCCTC) c.-332_-322delinsGCTTCTGCCTC (n.-332_-322delinsGCTTCTGCCTC) | |
| X | g.154032346_154032355del | CA232960 | MECP2 | c.229_238del (p.Ala77ProfsTer?) c.265_274del (p.Ala89ProfsTer?) c.*283_*292del (n.*283_*292del) n.2577_2586del c.217_226del (p.Ala73ProfsTer?) c.-51_-42del (n.-51_-42del) c.-332_-323del (n.-332_-323del) | ClinVar dbSNP |
| X | g.154032350_154032351delinsAG | CA2466571584 | MECP2 | c.233_234delinsCT (p.Ser78=) c.269_270delinsCT (p.Ser90=) c.*287_*288delinsCT (n.*287_*288delinsCT) n.2581_2582delinsCT c.221_222delinsCT (p.Ser74=) c.-47_-46delinsCT (n.-47_-46delinsCT) c.-328_-327delinsCT (n.-328_-327delinsCT) | |
| X | g.154032351del | CA270303 | MECP2 | c.233del (p.Ser78LeufsTer?) c.269del (p.Ser90LeufsTer?) c.*287del (n.*287del) n.2581del c.221del (p.Ser74LeufsTer?) c.-47del (n.-47del) c.-328del (n.-328del) | ClinVar dbSNP |
| X | g.154032351G>A | CA415177398 | MECP2 | c.233C>T (p.Ser78Phe) c.269C>T (p.Ser90Phe) c.*287C>T (n.*287C>T) n.2581C>T c.221C>T (p.Ser74Phe) c.-47C>T (n.-47C>T) c.-328C>T (n.-328C>T) | gnomAD v4 |
| X | g.154032351G>C | CA415177399 | MECP2 | c.233C>G (p.Ser78Cys) c.269C>G (p.Ser90Cys) c.*287C>G (n.*287C>G) n.2581C>G c.221C>G (p.Ser74Cys) c.-47C>G (n.-47C>G) c.-328C>G (n.-328C>G) | |
| X | g.154032351G>T | CA415177401 | MECP2 | c.233C>A (p.Ser78Tyr) c.269C>A (p.Ser90Tyr) c.*287C>A (n.*287C>A) n.2581C>A c.221C>A (p.Ser74Tyr) c.-47C>A (n.-47C>A) c.-328C>A (n.-328C>A) | |
| X | g.154032352A>C | CA415177407 | MECP2 | c.232T>G (p.Ser78Ala) c.268T>G (p.Ser90Ala) c.*286T>G (n.*286T>G) n.2580T>G c.220T>G (p.Ser74Ala) c.-48T>G (n.-48T>G) c.-329T>G (n.-329T>G) | |
| X | g.154032352A>G | CA415177408 | MECP2 | c.232T>C (p.Ser78Pro) c.268T>C (p.Ser90Pro) c.*286T>C (n.*286T>C) n.2580T>C c.220T>C (p.Ser74Pro) c.-48T>C (n.-48T>C) c.-329T>C (n.-329T>C) | |
| X | g.154032352A>T | CA415177405 | MECP2 | c.232T>A (p.Ser78Thr) c.268T>A (p.Ser90Thr) c.*286T>A (n.*286T>A) n.2580T>A c.220T>A (p.Ser74Thr) c.-48T>A (n.-48T>A) c.-329T>A (n.-329T>A) | |
| X | g.154032353dup | CA2580101939 | MECP2 | c.232dup (p.Ser78PhefsTer13) c.268dup (p.Ser90PhefsTer13) c.*286dup (n.*286dup) n.2580dup c.220dup (p.Ser74PhefsTer13) c.-48dup (n.-48dup) c.-329dup (n.-329dup) | ClinVar |
| X | g.154032353A>C | CA519704911 | MECP2 | c.231T>G (p.Ala77=) c.267T>G (p.Ala89=) c.*285T>G (n.*285T>G) n.2579T>G c.219T>G (p.Ala73=) c.-49T>G (n.-49T>G) c.-330T>G (n.-330T>G) | |
| X | g.154032353A>G | CA519704912 | MECP2 | c.231T>C (p.Ala77=) c.267T>C (p.Ala89=) c.*285T>C (n.*285T>C) n.2579T>C c.219T>C (p.Ala73=) c.-49T>C (n.-49T>C) c.-330T>C (n.-330T>C) | ClinVar |
| X | g.154032353A>T | CA519704913 | MECP2 | c.231T>A (p.Ala77=) c.267T>A (p.Ala89=) c.*285T>A (n.*285T>A) n.2579T>A c.219T>A (p.Ala73=) c.-49T>A (n.-49T>A) c.-330T>A (n.-330T>A) | |
| X | g.154032354G>A | CA415177410 | MECP2 | c.230C>T (p.Ala77Val) c.266C>T (p.Ala89Val) c.*284C>T (n.*284C>T) n.2578C>T c.218C>T (p.Ala73Val) c.-50C>T (n.-50C>T) c.-331C>T (n.-331C>T) | |
| X | g.154032354G>C | CA415177411 | MECP2 | c.230C>G (p.Ala77Gly) c.266C>G (p.Ala89Gly) c.*284C>G (n.*284C>G) n.2578C>G c.218C>G (p.Ala73Gly) c.-50C>G (n.-50C>G) c.-331C>G (n.-331C>G) | |
| X | g.154032354G>T | CA415177413 | MECP2 | c.230C>A (p.Ala77Asp) c.266C>A (p.Ala89Asp) c.*284C>A (n.*284C>A) n.2578C>A c.218C>A (p.Ala73Asp) c.-50C>A (n.-50C>A) c.-331C>A (n.-331C>A) | |
| X | g.154032355del | CA2695237635 | MECP2 | c.229del (p.Ala77LeufsTer?) c.265del (p.Ala89LeufsTer?) c.*283del (n.*283del) n.2577del c.217del (p.Ala73LeufsTer?) c.-51del (n.-51del) c.-332del (n.-332del) | |
| X | g.154032355C>A | CA415177416 | MECP2 | c.229G>T (p.Ala77Ser) c.265G>T (p.Ala89Ser) c.*283G>T (n.*283G>T) n.2577G>T c.217G>T (p.Ala73Ser) c.-51G>T (n.-51G>T) c.-332G>T (n.-332G>T) | |
| X | g.154032355C>G | CA415177417 | MECP2 | c.229G>C (p.Ala77Pro) c.265G>C (p.Ala89Pro) c.*283G>C (n.*283G>C) n.2577G>C c.217G>C (p.Ala73Pro) c.-51G>C (n.-51G>C) c.-332G>C (n.-332G>C) | gnomAD v4 |
| X | g.154032355C>T | CA415177419 | MECP2 | c.229G>A (p.Ala77Thr) c.265G>A (p.Ala89Thr) c.*283G>A (n.*283G>A) n.2577G>A c.217G>A (p.Ala73Thr) c.-51G>A (n.-51G>A) c.-332G>A (n.-332G>A) | |
| X | g.154032356T>A | CA415177420 | MECP2 | c.228A>T (p.Glu76Asp) c.264A>T (p.Glu88Asp) c.*282A>T (n.*282A>T) n.2576A>T c.216A>T (p.Glu72Asp) c.-52A>T (n.-52A>T) c.-333A>T (n.-333A>T) | |
| X | g.154032356T>C | CA519704914 | MECP2 | c.228A>G (p.Glu76=) c.264A>G (p.Glu88=) c.*282A>G (n.*282A>G) n.2576A>G c.216A>G (p.Glu72=) c.-52A>G (n.-52A>G) c.-333A>G (n.-333A>G) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154032356T>G | CA415177422 | MECP2 | c.228A>C (p.Glu76Asp) c.264A>C (p.Glu88Asp) c.*282A>C (n.*282A>C) n.2576A>C c.216A>C (p.Glu72Asp) c.-52A>C (n.-52A>C) c.-333A>C (n.-333A>C) | |
| X | g.154032356T= | CA2466571585 | MECP2 | c.228A= (p.Glu76=) c.264A= (p.Glu88=) c.*282A= (n.*282A=) n.2576A= c.216A= (p.Glu72=) c.-52A= (n.-52A=) c.-333A= (n.-333A=) | |
| X | g.154032357T>A | CA415177424 | MECP2 | c.227A>T (p.Glu76Val) c.263A>T (p.Glu88Val) c.*281A>T (n.*281A>T) n.2575A>T c.215A>T (p.Glu72Val) c.-53A>T (n.-53A>T) c.-334A>T (n.-334A>T) | |
| X | g.154032357T>C | CA415177425 | MECP2 | c.227A>G (p.Glu76Gly) c.263A>G (p.Glu88Gly) c.*281A>G (n.*281A>G) n.2575A>G c.215A>G (p.Glu72Gly) c.-53A>G (n.-53A>G) c.-334A>G (n.-334A>G) | |
| X | g.154032357T>G | CA415177427 | MECP2 | c.227A>C (p.Glu76Ala) c.263A>C (p.Glu88Ala) c.*281A>C (n.*281A>C) n.2575A>C c.215A>C (p.Glu72Ala) c.-53A>C (n.-53A>C) c.-334A>C (n.-334A>C) | |
| X | g.154032358C>A | CA415177430 | MECP2 | c.226G>T (p.Glu76Ter) c.262G>T (p.Glu88Ter) c.*280G>T (n.*280G>T) n.2574G>T c.214G>T (p.Glu72Ter) c.-54G>T (n.-54G>T) c.-335G>T (n.-335G>T) | |
| X | g.154032358C>G | CA415177429 | MECP2 | c.226G>C (p.Glu76Gln) c.262G>C (p.Glu88Gln) c.*280G>C (n.*280G>C) n.2574G>C c.214G>C (p.Glu72Gln) c.-54G>C (n.-54G>C) c.-335G>C (n.-335G>C) | |
| X | g.154032358C>T | CA415177428 | MECP2 | c.226G>A (p.Glu76Lys) c.262G>A (p.Glu88Lys) c.*280G>A (n.*280G>A) n.2574G>A c.214G>A (p.Glu72Lys) c.-54G>A (n.-54G>A) c.-335G>A (n.-335G>A) | |
| X | g.154032359del | CA2695202110 | MECP2 | c.226del (p.Glu76LysfsTer?) c.262del (p.Glu88LysfsTer?) c.*280del (n.*280del) n.2574del c.214del (p.Glu72LysfsTer?) c.-54del (n.-54del) c.-335del (n.-335del) | |
| X | g.154032359C>A | CA519704915 | MECP2 | c.225G>T (p.Pro75=) c.261G>T (p.Pro87=) c.*279G>T (n.*279G>T) n.2573G>T c.213G>T (p.Pro71=) c.-55G>T (n.-55G>T) c.-336G>T (n.-336G>T) | |
| X | g.154032359C= | CA2466571586 | MECP2 | c.225G= (p.Pro75=) c.261G= (p.Pro87=) c.*279G= (n.*279G=) n.2573G= c.213G= (p.Pro71=) c.-55G= (n.-55G=) c.-336G= (n.-336G=) | |
| X | g.154032359C>G | CA519704916 | MECP2 | c.225G>C (p.Pro75=) c.261G>C (p.Pro87=) c.*279G>C (n.*279G>C) n.2573G>C c.213G>C (p.Pro71=) c.-55G>C (n.-55G>C) c.-336G>C (n.-336G>C) | |
| X | g.154032359C>T | CA170275 | MECP2 | c.225G>A (p.Pro75=) c.261G>A (p.Pro87=) c.*279G>A (n.*279G>A) n.2573G>A c.213G>A (p.Pro71=) c.-55G>A (n.-55G>A) c.-336G>A (n.-336G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154032360G>A | CA170272 | MECP2 | c.224C>T (p.Pro75Leu) c.260C>T (p.Pro87Leu) c.*278C>T (n.*278C>T) n.2572C>T c.212C>T (p.Pro71Leu) c.-56C>T (n.-56C>T) c.-337C>T (n.-337C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |