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.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.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.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) |