Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154030255_154037279delinsCACAAAGTGCA274580MECP2c.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
Xg.154030587_154034485delCA1139667874MECP2c.27-1928_1241del
c.63-1928_1277del
c.27-1928_*613del
c.-253-1928_962del
c.-534-1928_572del
ClinVar
Xg.154030593_154038357delCA2499226465MECP2c.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
Xg.154030623_154032653delCA274584MECP2c.27-94_1207del
c.63-94_1243del
c.63-94_*579del
c.27-94_*579del
c.-253-94_928del
c.-534-94_538del
ClinVar
Xg.154030638_154038772delCA274583MECP2c.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
Xg.154030638_154038583delinsACCA274582MECP2c.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
Xg.154030646_154036487delCA274579MECP2c.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
Xg.154030663_154037047delCA916084238MECP2c.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
Xg.154030672_154039641delCA1139667883MECP2c.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
Xg.154030690_154038335delCA915952024MECP2c.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
Xg.154030777_154032630delCA915952026MECP2c.27-73_1051del
c.63-73_1087del
c.63-73_*423del
c.27-73_*423del
c.-253-73_772del
c.-534-73_382del
ClinVar
Xg.154030926_154038331delinsTGACATCAGTCCGGGCACCA274581MECP2c.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
Xg.154031347_154035447delCA891863116MECP2c.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
Xg.154032286G>ACA519705352MECP2c.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)
Xg.154032286G>CCA198822MECP2c.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
Xg.154032286G=CA2466571549MECP2c.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=)
Xg.154032286G>TCA415176935MECP2c.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)
Xg.154032286_154032289delinsGGGTCA2466571550MECP2c.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)
Xg.154032287G>ACA519705356MECP2c.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)
Xg.154032287G>CCA170284MECP2c.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
Xg.154032287G=CA2466571551MECP2c.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=)
Xg.154032287G>TCA519705358MECP2c.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)
Xg.154032289_154032291delCA270325MECP2c.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
Xg.154032288G>ACA415176948MECP2c.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)
Xg.154032288G>CCA415176949MECP2c.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)
Xg.154032288G=CA2466571552MECP2c.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=)
Xg.154032288G>TCA415176950MECP2c.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)
Xg.154032289T>ACA415176959MECP2c.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)
Xg.154032289T>CCA415176955MECP2c.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)
Xg.154032289T>GCA415176953MECP2c.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
Xg.154032289T=CA2466571553MECP2c.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=)
Xg.154032289dupCA915952031MECP2c.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
Xg.154032290G>ACA519705371MECP2c.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)
Xg.154032290G>CCA519705367MECP2c.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)
Xg.154032290G>TCA519705368MECP2c.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)
Xg.154032291G>ACA415176968MECP2c.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)
Xg.154032291G>CCA415176961MECP2c.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)
Xg.154032291G>TCA415176964MECP2c.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)
Xg.154032292G>ACA415176982MECP2c.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)
Xg.154032292G>CCA415176986MECP2c.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)
Xg.154032292G>TCA415176988MECP2c.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)
Xg.154032293G>ACA519705379MECP2c.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)
Xg.154032293G>CCA415176991MECP2c.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)
Xg.154032293G=CA2466571554MECP2c.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=)
Xg.154032293G>TCA270323MECP2c.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
Xg.154032294T>ACA415176997MECP2c.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)
Xg.154032294T>CCA415176999MECP2c.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)
Xg.154032294T>GCA415177000MECP2c.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)
Xg.154032295C>ACA270316MECP2c.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
Xg.154032295C=CA2466571555MECP2c.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=)

Number of alleles fetched