UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.154030367_154031450del | CA274586 | MECP2 | c.378_1461del (p.Pro127PhefsTer24) c.414_1497del (p.Pro139PhefsTer24) c.378_1457del c.378_*833del c.99_1182del (p.Pro34PhefsTer24) c.-183_792del | ClinVar |
| X | g.154030546_154032241del | CA2695202122 | MECP2 | c.343_1282del c.379_1318del c.343_*654del c.64_1003del c.-218_613del | |
| 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.154030617_154032283del | CA2573159384 | MECP2 | c.301_1211del c.337_1247del c.337_*583del c.301_*583del c.22_932del c.-260_542del | 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_154031340delinsTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCC | CA2466570378 | MECP2 | c.488_1190delinsGGAGCCCCTCCCGGCGAGAGCAGAAACCACCTAAGAAGCCCAAATCTCCCAAAGCTCCAGGAACTGGCAGAGGCCGGGGACGCCCCAAAGGGAGCGGCACCACGAGACCCAAGGCGGCCACGTCAGAGGGTGTGCAGGTGAAAAGGGTCCTGGAGAAAAGTCCTGGGAAGCTCCTTGTCAAGATGCCTTTTCAAACTTCGCCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCAGGAAGCGAAAAGCTGAGGCCGACCCTCAGGCCATTCCCAAGAAACGGGGCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGA (p.Gly163=) c.524_1226delinsGGAGCCCCTCCCGGCGAGAGCAGAAACCACCTAAGAAGCCCAAATCTCCCAAAGCTCCAGGAACTGGCAGAGGCCGGGGACGCCCCAAAGGGAGCGGCACCACGAGACCCAAGGCGGCCACGTCAGAGGGTGTGCAGGTGAAAAGGGTCCTGGAGAAAAGTCCTGGGAAGCTCCTTGTCAAGATGCCTTTTCAAACTTCGCCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCAGGAAGCGAAAAGCTGAGGCCGACCCTCAGGCCATTCCCAAGAAACGGGGCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGA (p.Gly175=) c.469-54_*562delinsGGAGCCCCTCCCGGCGAGAGCAGAAACCACCTAAGAAGCCCAAATCTCCCAAAGCTCCAGGAACTGGCAGAGGCCGGGGACGCCCCAAAGGGAGCGGCACCACGAGACCCAAGGCGGCCACGTCAGAGGGTGTGCAGGTGAAAAGGGTCCTGGAGAAAAGTCCTGGGAAGCTCCTTGTCAAGATGCCTTTTCAAACTTCGCCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCAGGAAGCGAAAAGCTGAGGCCGACCCTCAGGCCATTCCCAAGAAACGGGGCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGA c.433-54_*562delinsGGAGCCCCTCCCGGCGAGAGCAGAAACCACCTAAGAAGCCCAAATCTCCCAAAGCTCCAGGAACTGGCAGAGGCCGGGGACGCCCCAAAGGGAGCGGCACCACGAGACCCAAGGCGGCCACGTCAGAGGGTGTGCAGGTGAAAAGGGTCCTGGAGAAAAGTCCTGGGAAGCTCCTTGTCAAGATGCCTTTTCAAACTTCGCCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCAGGAAGCGAAAAGCTGAGGCCGACCCTCAGGCCATTCCCAAGAAACGGGGCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGA c.209_911delinsGGAGCCCCTCCCGGCGAGAGCAGAAACCACCTAAGAAGCCCAAATCTCCCAAAGCTCCAGGAACTGGCAGAGGCCGGGGACGCCCCAAAGGGAGCGGCACCACGAGACCCAAGGCGGCCACGTCAGAGGGTGTGCAGGTGAAAAGGGTCCTGGAGAAAAGTCCTGGGAAGCTCCTTGTCAAGATGCCTTTTCAAACTTCGCCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCAGGAAGCGAAAAGCTGAGGCCGACCCTCAGGCCATTCCCAAGAAACGGGGCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGA (p.Gly70=) c.-128-54_521delinsGGAGCCCCTCCCGGCGAGAGCAGAAACCACCTAAGAAGCCCAAATCTCCCAAAGCTCCAGGAACTGGCAGAGGCCGGGGACGCCCCAAAGGGAGCGGCACCACGAGACCCAAGGCGGCCACGTCAGAGGGTGTGCAGGTGAAAAGGGTCCTGGAGAAAAGTCCTGGGAAGCTCCTTGTCAAGATGCCTTTTCAAACTTCGCCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCAGGAAGCGAAAAGCTGAGGCCGACCCTCAGGCCATTCCCAAGAAACGGGGCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGA | |
| 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.154030640_154031341del | CA274591 | MECP2 | c.488_1189del (p.Gly163_Ser396del) c.524_1225del (p.Gly175_Ser408del) c.469-54_*561del c.433-54_*561del c.209_910del (p.Gly70_Ser303del) c.-128-54_520del | ClinVar dbSNP |
| X | g.154030639_154031446del | CA274587 | MECP2 | c.382_1189del (p.Gln128ArgfsTer12) c.418_1225del (p.Gln140ArgfsTer12) c.418_*561del c.382_*561del c.103_910del (p.Gln35ArgfsTer12) c.-179_520del | 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.154030646_154032241del | CA915952020 | MECP2 | c.343_1182del c.379_1218del c.379_*554del c.343_*554del c.64_903del c.-218_513del | |
| X | g.154030660_154031387del | CA2573334949 | MECP2 | c.444_1171del (p.Ser149Ter) c.480_1207del (p.Ser161Ter) c.468+12_*543del c.432+12_*543del c.165_892del (p.Ser56Ter) c.-129+12_502del | |
| 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.154030665_154031373delinsACGCA | CA2580101841 | MECP2 | c.455_1163delinsTGCGT (p.Pro152LeufsTer6) c.491_1199delinsTGCGT (p.Pro164LeufsTer6) c.468+23_*535delinsTGCGT c.432+23_*535delinsTGCGT c.176_884delinsTGCGT (p.Pro59LeufsTer6) c.-129+23_494delinsTGCGT | 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.154030672_154031421del | CA274588 | MECP2 | c.409_1158del (p.Glu137_Leu386del) c.445_1194del (p.Glu149_Leu398del) c.445_*530del c.409_*530del c.130_879del (p.Glu44_Leu293del) c.-152_489del | 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.154030700_154032236del | CA915952025 | MECP2 | c.348_1128del c.384_1164del c.384_*500del c.348_*500del c.69_849del c.-213_459del | |
| 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.154031331dup | CA2695237605 | MECP2 | c.499dup (p.Arg167ProfsTer8) c.535dup (p.Arg179ProfsTer8) c.65+67dup c.469-43dup (n.469-43dup) n.2847dup c.485dup (p.Ala163GlyfsTer?) c.487dup (p.Arg163ProfsTer8) c.433-43dup (n.433-43dup) c.220dup (p.Arg74ProfsTer8) c.-128-43dup (n.-128-43dup) | |
| X | g.154031331del | CA2695237604 | MECP2 | c.499del (p.Arg167GlyfsTer?) c.535del (p.Arg179GlyfsTer?) c.65+67del c.469-43del (n.469-43del) n.2847del c.485del (p.Pro162ArgfsTer?) c.487del (p.Arg163GlyfsTer?) c.433-43del (n.433-43del) c.220del (p.Arg74GlyfsTer?) c.-128-43del (n.-128-43del) | |
| X | g.154031331G>A | CA415174172 | MECP2 | c.497C>T (p.Ser166Phe) c.533C>T (p.Ser178Phe) c.65+65C>T c.469-45C>T (n.469-45C>T) n.2845C>T c.483C>T (p.Leu161=) c.485C>T (p.Ser162Phe) c.433-45C>T (n.433-45C>T) c.218C>T (p.Ser73Phe) c.-128-45C>T (n.-128-45C>T) | gnomAD v4 |
| X | g.154031331G>C | CA415174176 | MECP2 | c.497C>G (p.Ser166Cys) c.533C>G (p.Ser178Cys) c.65+65C>G c.469-45C>G (n.469-45C>G) n.2845C>G c.483C>G (p.Leu161=) c.485C>G (p.Ser162Cys) c.433-45C>G (n.433-45C>G) c.218C>G (p.Ser73Cys) c.-128-45C>G (n.-128-45C>G) | |
| X | g.154031331G>T | CA415174177 | MECP2 | c.497C>A (p.Ser166Tyr) c.533C>A (p.Ser178Tyr) c.65+65C>A c.469-45C>A (n.469-45C>A) n.2845C>A c.483C>A (p.Leu161=) c.485C>A (p.Ser162Tyr) c.433-45C>A (n.433-45C>A) c.218C>A (p.Ser73Tyr) c.-128-45C>A (n.-128-45C>A) | |
| X | g.154031332A>C | CA415174178 | MECP2 | c.496T>G (p.Ser166Ala) c.532T>G (p.Ser178Ala) c.65+64T>G c.469-46T>G (n.469-46T>G) n.2844T>G c.482T>G (p.Leu161Arg) c.484T>G (p.Ser162Ala) c.433-46T>G (n.433-46T>G) c.217T>G (p.Ser73Ala) c.-128-46T>G (n.-128-46T>G) | |
| X | g.154031332A>G | CA415174180 | MECP2 | c.496T>C (p.Ser166Pro) c.532T>C (p.Ser178Pro) c.65+64T>C c.469-46T>C (n.469-46T>C) n.2844T>C c.482T>C (p.Leu161Pro) c.484T>C (p.Ser162Pro) c.433-46T>C (n.433-46T>C) c.217T>C (p.Ser73Pro) c.-128-46T>C (n.-128-46T>C) | |
| X | g.154031332A>T | CA415174184 | MECP2 | c.496T>A (p.Ser166Thr) c.532T>A (p.Ser178Thr) c.65+64T>A c.469-46T>A (n.469-46T>A) n.2844T>A c.482T>A (p.Leu161His) c.484T>A (p.Ser162Thr) c.433-46T>A (n.433-46T>A) c.217T>A (p.Ser73Thr) c.-128-46T>A (n.-128-46T>A) | |
| X | g.154031332_154031333delinsAG | CA2466570972 | MECP2 | c.495_496delinsCT (p.Pro165=) c.531_532delinsCT (p.Pro177=) c.65+63_65+64delinsCT c.469-47_469-46delinsCT (n.469-47_469-46delinsCT) n.2843_2844delinsCT c.481_482delinsCT (p.Leu161=) c.483_484delinsCT (p.Pro161=) c.433-47_433-46delinsCT (n.433-47_433-46delinsCT) c.216_217delinsCT (p.Pro72=) c.-128-47_-128-46delinsCT (n.-128-47_-128-46delinsCT) | |
| X | g.154031333G>A | CA10558603 | MECP2 | c.495C>T (p.Pro165=) c.531C>T (p.Pro177=) c.65+63C>T c.469-47C>T (n.469-47C>T) n.2843C>T c.481C>T (p.Leu161Phe) c.483C>T (p.Pro161=) c.433-47C>T (n.433-47C>T) c.216C>T (p.Pro72=) c.-128-47C>T (n.-128-47C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154031333G>C | CA10558604 | MECP2 | c.495C>G (p.Pro165=) c.531C>G (p.Pro177=) c.65+63C>G c.469-47C>G (n.469-47C>G) n.2843C>G c.481C>G (p.Leu161Val) c.483C>G (p.Pro161=) c.433-47C>G (n.433-47C>G) c.216C>G (p.Pro72=) c.-128-47C>G (n.-128-47C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154031333G= | CA2466570973 | MECP2 | c.495C= (p.Pro165=) c.531C= (p.Pro177=) c.65+63C= c.469-47C= (n.469-47C=) n.2843C= c.481C= (p.Leu161=) c.483C= (p.Pro161=) c.433-47C= (n.433-47C=) c.216C= (p.Pro72=) c.-128-47C= (n.-128-47C=) | |
| X | g.154031333G>T | CA415174192 | MECP2 | c.495C>A (p.Pro165=) c.531C>A (p.Pro177=) c.65+63C>A c.469-47C>A (n.469-47C>A) n.2843C>A c.481C>A (p.Leu161Ile) c.483C>A (p.Pro161=) c.433-47C>A (n.433-47C>A) c.216C>A (p.Pro72=) c.-128-47C>A (n.-128-47C>A) | ClinVar |
| X | g.154031336del | CA232978 | MECP2 | c.495del (p.Ser166ProfsTer?) c.531del (p.Ser178ProfsTer?) c.65+63del c.469-47del (n.469-47del) n.2843del c.481del (p.Leu161SerfsTer?) c.483del (p.Ser162ProfsTer?) c.433-47del (n.433-47del) c.216del (p.Ser73ProfsTer?) c.-128-47del (n.-128-47del) | ClinVar dbSNP |
| X | g.154031334G>A | CA415174237 | MECP2 | c.494C>T (p.Pro165Leu) c.530C>T (p.Pro177Leu) c.65+62C>T c.469-48C>T (n.469-48C>T) n.2842C>T c.480C>T (p.Pro160=) c.482C>T (p.Pro161Leu) c.433-48C>T (n.433-48C>T) c.215C>T (p.Pro72Leu) c.-128-48C>T (n.-128-48C>T) | |
| X | g.154031334G>C | CA415174247 | MECP2 | c.494C>G (p.Pro165Arg) c.530C>G (p.Pro177Arg) c.65+62C>G c.469-48C>G (n.469-48C>G) n.2842C>G c.480C>G (p.Pro160=) c.482C>G (p.Pro161Arg) c.433-48C>G (n.433-48C>G) c.215C>G (p.Pro72Arg) c.-128-48C>G (n.-128-48C>G) | |
| X | g.154031334G>T | CA415174251 | MECP2 | c.494C>A (p.Pro165His) c.530C>A (p.Pro177His) c.65+62C>A c.469-48C>A (n.469-48C>A) n.2842C>A c.480C>A (p.Pro160=) c.482C>A (p.Pro161His) c.433-48C>A (n.433-48C>A) c.215C>A (p.Pro72His) c.-128-48C>A (n.-128-48C>A) | |
| X | g.154031335G>A | CA415174257 | MECP2 | c.493C>T (p.Pro165Ser) c.529C>T (p.Pro177Ser) c.65+61C>T c.469-49C>T (n.469-49C>T) n.2841C>T c.479C>T (p.Pro160Leu) c.481C>T (p.Pro161Ser) c.433-49C>T (n.433-49C>T) c.214C>T (p.Pro72Ser) c.-128-49C>T (n.-128-49C>T) | ClinVar dbSNP |
| X | g.154031335G>C | CA415174262 | MECP2 | c.493C>G (p.Pro165Ala) c.529C>G (p.Pro177Ala) c.65+61C>G c.469-49C>G (n.469-49C>G) n.2841C>G c.479C>G (p.Pro160Arg) c.481C>G (p.Pro161Ala) c.433-49C>G (n.433-49C>G) c.214C>G (p.Pro72Ala) c.-128-49C>G (n.-128-49C>G) | |
| X | g.154031335G>T | CA415174254 | MECP2 | c.493C>A (p.Pro165Thr) c.529C>A (p.Pro177Thr) c.65+61C>A c.469-49C>A (n.469-49C>A) n.2841C>A c.479C>A (p.Pro160His) c.481C>A (p.Pro161Thr) c.433-49C>A (n.433-49C>A) c.214C>A (p.Pro72Thr) c.-128-49C>A (n.-128-49C>A) | |
| X | g.154031336G>A | CA415174267 | MECP2 | c.492C>T (p.Ser164=) c.528C>T (p.Ser176=) c.65+60C>T c.469-50C>T (n.469-50C>T) n.2840C>T c.478C>T (p.Pro160Ser) c.480C>T (p.Ser160=) c.433-50C>T (n.433-50C>T) c.213C>T (p.Ser71=) c.-128-50C>T (n.-128-50C>T) | ClinVar dbSNP |
| X | g.154031336G>C | CA415174272 | MECP2 | c.492C>G (p.Ser164Arg) c.528C>G (p.Ser176Arg) c.65+60C>G c.469-50C>G (n.469-50C>G) n.2840C>G c.478C>G (p.Pro160Ala) c.480C>G (p.Ser160Arg) c.433-50C>G (n.433-50C>G) c.213C>G (p.Ser71Arg) c.-128-50C>G (n.-128-50C>G) | |
| X | g.154031336G= | CA2466570974 | MECP2 | c.492C= (p.Ser164=) c.528C= (p.Ser176=) c.65+60C= c.469-50C= (n.469-50C=) n.2840C= c.478C= (p.Pro160=) c.480C= (p.Ser160=) c.433-50C= (n.433-50C=) c.213C= (p.Ser71=) c.-128-50C= (n.-128-50C=) | |
| X | g.154031336G>T | CA415174268 | MECP2 | c.492C>A (p.Ser164Arg) c.528C>A (p.Ser176Arg) c.65+60C>A c.469-50C>A (n.469-50C>A) n.2840C>A c.478C>A (p.Pro160Thr) c.480C>A (p.Ser160Arg) c.433-50C>A (n.433-50C>A) c.213C>A (p.Ser71Arg) c.-128-50C>A (n.-128-50C>A) | |
| X | g.154031337C>A | CA415174278 | MECP2 | c.491G>T (p.Ser164Ile) c.527G>T (p.Ser176Ile) c.65+59G>T c.469-51G>T (n.469-51G>T) n.2839G>T c.477G>T (p.Glu159Asp) c.479G>T (p.Ser160Ile) c.433-51G>T (n.433-51G>T) c.212G>T (p.Ser71Ile) c.-128-51G>T (n.-128-51G>T) | |
| X | g.154031337C>G | CA415174308 | MECP2 | c.491G>C (p.Ser164Thr) c.527G>C (p.Ser176Thr) c.65+59G>C c.469-51G>C (n.469-51G>C) n.2839G>C c.477G>C (p.Glu159Asp) c.479G>C (p.Ser160Thr) c.433-51G>C (n.433-51G>C) c.212G>C (p.Ser71Thr) c.-128-51G>C (n.-128-51G>C) | |
| X | g.154031337C>T | CA415174281 | MECP2 | c.491G>A (p.Ser164Asn) c.527G>A (p.Ser176Asn) c.65+59G>A c.469-51G>A (n.469-51G>A) n.2839G>A c.477G>A (p.Glu159=) c.479G>A (p.Ser160Asn) c.433-51G>A (n.433-51G>A) c.212G>A (p.Ser71Asn) c.-128-51G>A (n.-128-51G>A) |