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.154032360G>A | CA170272 | MECP2 | c.224C>T (p.Pro75Leu) c.260C>T (p.Pro87Leu) c.*278C>T (n.*278C>T) n.2572C>T c.212C>T (p.Pro71Leu) c.-56C>T (n.-56C>T) c.-337C>T (n.-337C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154032360G>C | CA415177432 | MECP2 | c.224C>G (p.Pro75Arg) c.260C>G (p.Pro87Arg) c.*278C>G (n.*278C>G) n.2572C>G c.212C>G (p.Pro71Arg) c.-56C>G (n.-56C>G) c.-337C>G (n.-337C>G) | gnomAD v4 |
X | g.154032360G= | CA2466571587 | MECP2 | c.224C= (p.Pro75=) c.260C= (p.Pro87=) c.*278C= (n.*278C=) n.2572C= c.212C= (p.Pro71=) c.-56C= (n.-56C=) c.-337C= (n.-337C=) | |
X | g.154032360G>T | CA415177433 | MECP2 | c.224C>A (p.Pro75Gln) c.260C>A (p.Pro87Gln) c.*278C>A (n.*278C>A) n.2572C>A c.212C>A (p.Pro71Gln) c.-56C>A (n.-56C>A) c.-337C>A (n.-337C>A) | |
X | g.154032360_154032366del | CA2573159391 | MECP2 | c.218_224del (p.Ala73GlyfsTer?) c.254_260del (p.Ala85GlyfsTer?) c.*272_*278del (n.*272_*278del) n.2566_2572del c.206_212del (p.Ala69GlyfsTer?) c.-62_-56del (n.-62_-56del) c.-343_-337del (n.-343_-337del) | ClinVar dbSNP |
X | g.154032361G>A | CA415177434 | MECP2 | c.223C>T (p.Pro75Ser) c.259C>T (p.Pro87Ser) c.*277C>T (n.*277C>T) n.2571C>T c.211C>T (p.Pro71Ser) c.-57C>T (n.-57C>T) c.-338C>T (n.-338C>T) | |
X | g.154032361G>C | CA415177435 | MECP2 | c.223C>G (p.Pro75Ala) c.259C>G (p.Pro87Ala) c.*277C>G (n.*277C>G) n.2571C>G c.211C>G (p.Pro71Ala) c.-57C>G (n.-57C>G) c.-338C>G (n.-338C>G) | |
X | g.154032361G>T | CA415177436 | MECP2 | c.223C>A (p.Pro75Thr) c.259C>A (p.Pro87Thr) c.*277C>A (n.*277C>A) n.2571C>A c.211C>A (p.Pro71Thr) c.-57C>A (n.-57C>A) c.-338C>A (n.-338C>A) | |
X | g.154032362C>A | CA519704917 | MECP2 | c.222G>T (p.Val74=) c.258G>T (p.Val86=) c.*276G>T (n.*276G>T) n.2570G>T c.210G>T (p.Val70=) c.-58G>T (n.-58G>T) c.-339G>T (n.-339G>T) | |
X | g.154032362C>G | CA519704918 | MECP2 | c.222G>C (p.Val74=) c.258G>C (p.Val86=) c.*276G>C (n.*276G>C) n.2570G>C c.210G>C (p.Val70=) c.-58G>C (n.-58G>C) c.-339G>C (n.-339G>C) | |
X | g.154032362C>T | CA519704919 | MECP2 | c.222G>A (p.Val74=) c.258G>A (p.Val86=) c.*276G>A (n.*276G>A) n.2570G>A c.210G>A (p.Val70=) c.-58G>A (n.-58G>A) c.-339G>A (n.-339G>A) | |
X | g.154032363A>C | CA415177438 | MECP2 | c.221T>G (p.Val74Gly) c.257T>G (p.Val86Gly) c.*275T>G (n.*275T>G) n.2569T>G c.209T>G (p.Val70Gly) c.-59T>G (n.-59T>G) c.-340T>G (n.-340T>G) | |
X | g.154032363A>G | CA415177439 | MECP2 | c.221T>C (p.Val74Ala) c.257T>C (p.Val86Ala) c.*275T>C (n.*275T>C) n.2569T>C c.209T>C (p.Val70Ala) c.-59T>C (n.-59T>C) c.-340T>C (n.-340T>C) | |
X | g.154032363A>T | CA415177441 | MECP2 | c.221T>A (p.Val74Glu) c.257T>A (p.Val86Glu) c.*275T>A (n.*275T>A) n.2569T>A c.209T>A (p.Val70Glu) c.-59T>A (n.-59T>A) c.-340T>A (n.-340T>A) | |
X | g.154032364C>A | CA415177442 | MECP2 | c.220G>T (p.Val74Leu) c.256G>T (p.Val86Leu) c.*274G>T (n.*274G>T) n.2568G>T c.208G>T (p.Val70Leu) c.-60G>T (n.-60G>T) c.-341G>T (n.-341G>T) | |
X | g.154032364C>G | CA415177444 | MECP2 | c.220G>C (p.Val74Leu) c.256G>C (p.Val86Leu) c.*274G>C (n.*274G>C) n.2568G>C c.208G>C (p.Val70Leu) c.-60G>C (n.-60G>C) c.-341G>C (n.-341G>C) | |
X | g.154032364C>T | CA415177447 | MECP2 | c.220G>A (p.Val74Met) c.256G>A (p.Val86Met) c.*274G>A (n.*274G>A) n.2568G>A c.208G>A (p.Val70Met) c.-60G>A (n.-60G>A) c.-341G>A (n.-341G>A) | |
X | g.154032365A>C | CA519704925 | MECP2 | c.219T>G (p.Ala73=) c.255T>G (p.Ala85=) c.*273T>G (n.*273T>G) n.2567T>G c.207T>G (p.Ala69=) c.-61T>G (n.-61T>G) c.-342T>G (n.-342T>G) | dbSNP |
X | g.154032365A>G | CA519704921 | MECP2 | c.219T>C (p.Ala73=) c.255T>C (p.Ala85=) c.*273T>C (n.*273T>C) n.2567T>C c.207T>C (p.Ala69=) c.-61T>C (n.-61T>C) c.-342T>C (n.-342T>C) | |
X | g.154032365A>T | CA519704923 | MECP2 | c.219T>A (p.Ala73=) c.255T>A (p.Ala85=) c.*273T>A (n.*273T>A) n.2567T>A c.207T>A (p.Ala69=) c.-61T>A (n.-61T>A) c.-342T>A (n.-342T>A) | |
X | g.154032366G>A | CA415177451 | MECP2 | c.218C>T (p.Ala73Val) c.254C>T (p.Ala85Val) c.*272C>T (n.*272C>T) n.2566C>T c.206C>T (p.Ala69Val) c.-62C>T (n.-62C>T) c.-343C>T (n.-343C>T) | COSMIC |
X | g.154032366G>C | CA415177453 | MECP2 | c.218C>G (p.Ala73Gly) c.254C>G (p.Ala85Gly) c.*272C>G (n.*272C>G) n.2566C>G c.206C>G (p.Ala69Gly) c.-62C>G (n.-62C>G) c.-343C>G (n.-343C>G) | |
X | g.154032366G>T | CA415177450 | MECP2 | c.218C>A (p.Ala73Asp) c.254C>A (p.Ala85Asp) c.*272C>A (n.*272C>A) n.2566C>A c.206C>A (p.Ala69Asp) c.-62C>A (n.-62C>A) c.-343C>A (n.-343C>A) | |
X | g.154032367C>A | CA415177456 | MECP2 | c.217G>T (p.Ala73Ser) c.253G>T (p.Ala85Ser) c.*271G>T (n.*271G>T) n.2565G>T c.205G>T (p.Ala69Ser) c.-63G>T (n.-63G>T) c.-344G>T (n.-344G>T) | |
X | g.154032367C>G | CA415177457 | MECP2 | c.217G>C (p.Ala73Pro) c.253G>C (p.Ala85Pro) c.*271G>C (n.*271G>C) n.2565G>C c.205G>C (p.Ala69Pro) c.-63G>C (n.-63G>C) c.-344G>C (n.-344G>C) | dbSNP |
X | g.154032367C>T | CA415177460 | MECP2 | c.217G>A (p.Ala73Thr) c.253G>A (p.Ala85Thr) c.*271G>A (n.*271G>A) n.2565G>A c.205G>A (p.Ala69Thr) c.-63G>A (n.-63G>A) c.-344G>A (n.-344G>A) | |
X | g.154032368C>A | CA10558648 | MECP2 | c.216G>T (p.Pro72=) c.252G>T (p.Pro84=) c.*270G>T (n.*270G>T) n.2564G>T c.204G>T (p.Pro68=) c.-64G>T (n.-64G>T) c.-345G>T (n.-345G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154032368C= | CA2466571589 | MECP2 | c.216G= (p.Pro72=) c.252G= (p.Pro84=) c.*270G= (n.*270G=) n.2564G= c.204G= (p.Pro68=) c.-64G= (n.-64G=) c.-345G= (n.-345G=) | |
X | g.154032368C>G | CA519704927 | MECP2 | c.216G>C (p.Pro72=) c.252G>C (p.Pro84=) c.*270G>C (n.*270G>C) n.2564G>C c.204G>C (p.Pro68=) c.-64G>C (n.-64G>C) c.-345G>C (n.-345G>C) | |
X | g.154032368C>T | CA207874 | MECP2 | c.216G>A (p.Pro72=) c.252G>A (p.Pro84=) c.*270G>A (n.*270G>A) n.2564G>A c.204G>A (p.Pro68=) c.-64G>A (n.-64G>A) c.-345G>A (n.-345G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154032368_154032369delinsCG | CA2466571588 | MECP2 | c.215_216delinsCG (p.Pro72=) c.251_252delinsCG (p.Pro84=) c.*269_*270delinsCG (n.*269_*270delinsCG) n.2563_2564delinsCG c.203_204delinsCG (p.Pro68=) c.-65_-64delinsCG (n.-65_-64delinsCG) c.-346_-345delinsCG (n.-346_-345delinsCG) | |
X | g.154032368_154032369insA | CA270301 | MECP2 | c.215_216insT (p.Ala73GlyfsTer18) c.251_252insT (p.Ala85GlyfsTer18) c.*269_*270insT (n.*269_*270insT) n.2563_2564insT c.203_204insT (p.Ala69GlyfsTer18) c.-65_-64insT (n.-65_-64insT) c.-346_-345insT (n.-346_-345insT) | ClinVar dbSNP |
X | g.154032369G>A | CA170269 | MECP2 | c.215C>T (p.Pro72Leu) c.251C>T (p.Pro84Leu) c.*269C>T (n.*269C>T) n.2563C>T c.203C>T (p.Pro68Leu) c.-65C>T (n.-65C>T) c.-346C>T (n.-346C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
X | g.154032369G>C | CA415177468 | MECP2 | c.215C>G (p.Pro72Arg) c.251C>G (p.Pro84Arg) c.*269C>G (n.*269C>G) n.2563C>G c.203C>G (p.Pro68Arg) c.-65C>G (n.-65C>G) c.-346C>G (n.-346C>G) | |
X | g.154032369G= | CA2466571590 | MECP2 | c.215C= (p.Pro72=) c.251C= (p.Pro84=) c.*269C= (n.*269C=) n.2563C= c.203C= (p.Pro68=) c.-65C= (n.-65C=) c.-346C= (n.-346C=) | |
X | g.154032369G>T | CA415177470 | MECP2 | c.215C>A (p.Pro72Gln) c.251C>A (p.Pro84Gln) c.*269C>A (n.*269C>A) n.2563C>A c.203C>A (p.Pro68Gln) c.-65C>A (n.-65C>A) c.-346C>A (n.-346C>A) | |
X | g.154032372dup | CA270302 | MECP2 | c.215dup (p.Ala73GlyfsTer18) c.251dup (p.Ala85GlyfsTer18) c.*269dup (n.*269dup) n.2563dup c.203dup (p.Ala69GlyfsTer18) c.-65dup (n.-65dup) c.-346dup (n.-346dup) | ClinVar dbSNP |