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.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=) |