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.154032341G>A | CA519704900 | MECP2 | c.243C>T (p.Pro81=) c.279C>T (p.Pro93=) c.*297C>T (n.*297C>T) n.2591C>T c.231C>T (p.Pro77=) c.-37C>T (n.-37C>T) c.-318C>T (n.-318C>T) | |
X | g.154032341G>C | CA519704901 | MECP2 | c.243C>G (p.Pro81=) c.279C>G (p.Pro93=) c.*297C>G (n.*297C>G) n.2591C>G c.231C>G (p.Pro77=) c.-37C>G (n.-37C>G) c.-318C>G (n.-318C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154032341G= | CA2466571578 | MECP2 | c.243C= (p.Pro81=) c.279C= (p.Pro93=) c.*297C= (n.*297C=) n.2591C= c.231C= (p.Pro77=) c.-37C= (n.-37C=) c.-318C= (n.-318C=) | |
X | g.154032341G>T | CA519704902 | MECP2 | c.243C>A (p.Pro81=) c.279C>A (p.Pro93=) c.*297C>A (n.*297C>A) n.2591C>A c.231C>A (p.Pro77=) c.-37C>A (n.-37C>A) c.-318C>A (n.-318C>A) | |
X | g.154032345dup | CA270304 | MECP2 | c.243dup (p.Lys82GlnfsTer9) c.279dup (p.Lys94GlnfsTer9) c.*297dup (n.*297dup) n.2591dup c.231dup (p.Lys78GlnfsTer9) c.-37dup (n.-37dup) c.-318dup (n.-318dup) | ClinVar dbSNP |
X | g.154032342G>A | CA415177318 | MECP2 | c.242C>T (p.Pro81Leu) c.278C>T (p.Pro93Leu) c.*296C>T (n.*296C>T) n.2590C>T c.230C>T (p.Pro77Leu) c.-38C>T (n.-38C>T) c.-319C>T (n.-319C>T) | |
X | g.154032342G>C | CA415177321 | MECP2 | c.242C>G (p.Pro81Arg) c.278C>G (p.Pro93Arg) c.*296C>G (n.*296C>G) n.2590C>G c.230C>G (p.Pro77Arg) c.-38C>G (n.-38C>G) c.-319C>G (n.-319C>G) | |
X | g.154032342G>T | CA415177324 | MECP2 | c.242C>A (p.Pro81His) c.278C>A (p.Pro93His) c.*296C>A (n.*296C>A) n.2590C>A c.230C>A (p.Pro77His) c.-38C>A (n.-38C>A) c.-319C>A (n.-319C>A) | |
X | g.154032343G>A | CA415177327 | MECP2 | c.241C>T (p.Pro81Ser) c.277C>T (p.Pro93Ser) c.*295C>T (n.*295C>T) n.2589C>T c.229C>T (p.Pro77Ser) c.-39C>T (n.-39C>T) c.-320C>T (n.-320C>T) | |
X | g.154032343G>C | CA415177330 | MECP2 | c.241C>G (p.Pro81Ala) c.277C>G (p.Pro93Ala) c.*295C>G (n.*295C>G) n.2589C>G c.229C>G (p.Pro77Ala) c.-39C>G (n.-39C>G) c.-320C>G (n.-320C>G) | |
X | g.154032343G>T | CA415177332 | MECP2 | c.241C>A (p.Pro81Thr) c.277C>A (p.Pro93Thr) c.*295C>A (n.*295C>A) n.2589C>A c.229C>A (p.Pro77Thr) c.-39C>A (n.-39C>A) c.-320C>A (n.-320C>A) | |
X | g.154032344G>A | CA519704903 | MECP2 | c.240C>T (p.Ser80=) c.276C>T (p.Ser92=) c.*294C>T (n.*294C>T) n.2588C>T c.228C>T (p.Ser76=) c.-40C>T (n.-40C>T) c.-321C>T (n.-321C>T) | COSMIC |
X | g.154032344G>C | CA519704904 | MECP2 | c.240C>G (p.Ser80=) c.276C>G (p.Ser92=) c.*294C>G (n.*294C>G) n.2588C>G c.228C>G (p.Ser76=) c.-40C>G (n.-40C>G) c.-321C>G (n.-321C>G) | |
X | g.154032344G>T | CA519704905 | MECP2 | c.240C>A (p.Ser80=) c.276C>A (p.Ser92=) c.*294C>A (n.*294C>A) n.2588C>A c.228C>A (p.Ser76=) c.-40C>A (n.-40C>A) c.-321C>A (n.-321C>A) | |
X | g.154032345G>A | CA415177336 | MECP2 | c.239C>T (p.Ser80Phe) c.275C>T (p.Ser92Phe) c.*293C>T (n.*293C>T) n.2587C>T c.227C>T (p.Ser76Phe) c.-41C>T (n.-41C>T) c.-322C>T (n.-322C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.154032345G>C | CA415177339 | MECP2 | c.239C>G (p.Ser80Cys) c.275C>G (p.Ser92Cys) c.*293C>G (n.*293C>G) n.2587C>G c.227C>G (p.Ser76Cys) c.-41C>G (n.-41C>G) c.-322C>G (n.-322C>G) | ClinVar dbSNP |
X | g.154032345G= | CA2466571580 | MECP2 | c.239C= (p.Ser80=) c.275C= (p.Ser92=) c.*293C= (n.*293C=) n.2587C= c.227C= (p.Ser76=) c.-41C= (n.-41C=) c.-322C= (n.-322C=) | |
X | g.154032345G>T | CA415177341 | MECP2 | c.239C>A (p.Ser80Tyr) c.275C>A (p.Ser92Tyr) c.*293C>A (n.*293C>A) n.2587C>A c.227C>A (p.Ser76Tyr) c.-41C>A (n.-41C>A) c.-322C>A (n.-322C>A) | gnomAD v4 |
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.154032346A>C | CA415177377 | MECP2 | c.238T>G (p.Ser80Ala) c.274T>G (p.Ser92Ala) c.*292T>G (n.*292T>G) n.2586T>G c.226T>G (p.Ser76Ala) c.-42T>G (n.-42T>G) c.-323T>G (n.-323T>G) | |
X | g.154032346A>G | CA415177374 | MECP2 | c.238T>C (p.Ser80Pro) c.274T>C (p.Ser92Pro) c.*292T>C (n.*292T>C) n.2586T>C c.226T>C (p.Ser76Pro) c.-42T>C (n.-42T>C) c.-323T>C (n.-323T>C) | |
X | g.154032346A>T | CA415177348 | MECP2 | c.238T>A (p.Ser80Thr) c.274T>A (p.Ser92Thr) c.*292T>A (n.*292T>A) n.2586T>A c.226T>A (p.Ser76Thr) c.-42T>A (n.-42T>A) c.-323T>A (n.-323T>A) | |
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.154032347G>A | CA519704906 | MECP2 | c.237C>T (p.Ala79=) c.273C>T (p.Ala91=) c.*291C>T (n.*291C>T) n.2585C>T c.225C>T (p.Ala75=) c.-43C>T (n.-43C>T) c.-324C>T (n.-324C>T) | gnomAD v4 |
X | g.154032347G>C | CA10558646 | MECP2 | c.237C>G (p.Ala79=) c.273C>G (p.Ala91=) c.*291C>G (n.*291C>G) n.2585C>G c.225C>G (p.Ala75=) c.-43C>G (n.-43C>G) c.-324C>G (n.-324C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154032347G= | CA2466571581 | MECP2 | c.237C= (p.Ala79=) c.273C= (p.Ala91=) c.*291C= (n.*291C=) n.2585C= c.225C= (p.Ala75=) c.-43C= (n.-43C=) c.-324C= (n.-324C=) | |
X | g.154032347G>T | CA519704907 | MECP2 | c.237C>A (p.Ala79=) c.273C>A (p.Ala91=) c.*291C>A (n.*291C>A) n.2585C>A c.225C>A (p.Ala75=) c.-43C>A (n.-43C>A) c.-324C>A (n.-324C>A) | |
X | g.154032348G>A | CA10558647 | MECP2 | c.236C>T (p.Ala79Val) c.272C>T (p.Ala91Val) c.*290C>T (n.*290C>T) n.2584C>T c.224C>T (p.Ala75Val) c.-44C>T (n.-44C>T) c.-325C>T (n.-325C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154032348G>C | CA415177385 | MECP2 | c.236C>G (p.Ala79Gly) c.272C>G (p.Ala91Gly) c.*290C>G (n.*290C>G) n.2584C>G c.224C>G (p.Ala75Gly) c.-44C>G (n.-44C>G) c.-325C>G (n.-325C>G) | |
X | g.154032348G= | CA2466571582 | MECP2 | c.236C= (p.Ala79=) c.272C= (p.Ala91=) c.*290C= (n.*290C=) n.2584C= c.224C= (p.Ala75=) c.-44C= (n.-44C=) c.-325C= (n.-325C=) | |
X | g.154032348G>T | CA415177388 | MECP2 | c.236C>A (p.Ala79Asp) c.272C>A (p.Ala91Asp) c.*290C>A (n.*290C>A) n.2584C>A c.224C>A (p.Ala75Asp) c.-44C>A (n.-44C>A) c.-325C>A (n.-325C>A) | |
X | g.154032349C>A | CA415177391 | MECP2 | c.235G>T (p.Ala79Ser) c.271G>T (p.Ala91Ser) c.*289G>T (n.*289G>T) n.2583G>T c.223G>T (p.Ala75Ser) c.-45G>T (n.-45G>T) c.-326G>T (n.-326G>T) | ClinVar dbSNP |
X | g.154032349C= | CA2466571583 | MECP2 | c.235G= (p.Ala79=) c.271G= (p.Ala91=) c.*289G= (n.*289G=) n.2583G= c.223G= (p.Ala75=) c.-45G= (n.-45G=) c.-326G= (n.-326G=) | |
X | g.154032349C>G | CA415177394 | MECP2 | c.235G>C (p.Ala79Pro) c.271G>C (p.Ala91Pro) c.*289G>C (n.*289G>C) n.2583G>C c.223G>C (p.Ala75Pro) c.-45G>C (n.-45G>C) c.-326G>C (n.-326G>C) | |
X | g.154032349C>T | CA415177397 | MECP2 | c.235G>A (p.Ala79Thr) c.271G>A (p.Ala91Thr) c.*289G>A (n.*289G>A) n.2583G>A c.223G>A (p.Ala75Thr) c.-45G>A (n.-45G>A) c.-326G>A (n.-326G>A) | gnomAD v4 |
X | g.154032350A>C | CA519704908 | MECP2 | c.234T>G (p.Ser78=) c.270T>G (p.Ser90=) c.*288T>G (n.*288T>G) n.2582T>G c.222T>G (p.Ser74=) c.-46T>G (n.-46T>G) c.-327T>G (n.-327T>G) | |
X | g.154032350A>G | CA519704910 | MECP2 | c.234T>C (p.Ser78=) c.270T>C (p.Ser90=) c.*288T>C (n.*288T>C) n.2582T>C c.222T>C (p.Ser74=) c.-46T>C (n.-46T>C) c.-327T>C (n.-327T>C) |