| 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.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.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.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 |