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.154030753_154031305delinsCG | CA198826 | MECP2 | c.523_1075delinsCG (p.Lys175ArgfsTer?) c.559_1111delinsCG (p.Lys187ArgfsTer?) c.469-19_*447delinsCG c.433-19_*447delinsCG c.244_796delinsCG (p.Lys82ArgfsTer?) c.-128-19_406delinsCG | |
| 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.154031269C>A | CA415173622 | MECP2 | c.559G>T (p.Gly187Cys) c.595G>T (p.Gly199Cys) c.65+127G>T c.486G>T (p.Glu162Asp) n.2907G>T c.547G>T (p.Gly183Cys) c.450G>T (p.Glu150Asp) c.280G>T (p.Gly94Cys) c.-111G>T (n.-111G>T) | |
| X | g.154031269C>G | CA415173631 | MECP2 | c.559G>C (p.Gly187Arg) c.595G>C (p.Gly199Arg) c.65+127G>C c.486G>C (p.Glu162Asp) n.2907G>C c.547G>C (p.Gly183Arg) c.450G>C (p.Glu150Asp) c.280G>C (p.Gly94Arg) c.-111G>C (n.-111G>C) | |
| X | g.154031269C>T | CA415173637 | MECP2 | c.559G>A (p.Gly187Ser) c.595G>A (p.Gly199Ser) c.65+127G>A c.486G>A (p.Glu162=) n.2907G>A c.547G>A (p.Gly183Ser) c.450G>A (p.Glu150=) c.280G>A (p.Gly94Ser) c.-111G>A (n.-111G>A) | |
| X | g.154031270T>A | CA415173639 | MECP2 | c.558A>T (p.Arg186Ser) c.594A>T (p.Arg198Ser) c.65+126A>T c.485A>T (p.Glu162Val) n.2906A>T c.546A>T (p.Arg182Ser) c.449A>T (p.Glu150Val) c.279A>T (p.Arg93Ser) c.-112A>T (n.-112A>T) | |
| X | g.154031270T>C | CA415173640 | MECP2 | c.558A>G (p.Arg186=) c.594A>G (p.Arg198=) c.65+126A>G c.485A>G (p.Glu162Gly) n.2906A>G c.546A>G (p.Arg182=) c.449A>G (p.Glu150Gly) c.279A>G (p.Arg93=) c.-112A>G (n.-112A>G) | |
| X | g.154031270T>G | CA415173641 | MECP2 | c.558A>C (p.Arg186Ser) c.594A>C (p.Arg198Ser) c.65+126A>C c.485A>C (p.Glu162Ala) n.2906A>C c.546A>C (p.Arg182Ser) c.449A>C (p.Glu150Ala) c.279A>C (p.Arg93Ser) c.-112A>C (n.-112A>C) | |
| X | g.154031271C>A | CA415173642 | MECP2 | c.557G>T (p.Arg186Ile) c.593G>T (p.Arg198Ile) c.65+125G>T c.484G>T (p.Glu162Ter) n.2905G>T c.545G>T (p.Arg182Ile) c.448G>T (p.Glu150Ter) c.278G>T (p.Arg93Ile) c.-113G>T (n.-113G>T) | |
| X | g.154031271C>G | CA415173644 | MECP2 | c.557G>C (p.Arg186Thr) c.593G>C (p.Arg198Thr) c.65+125G>C c.484G>C (p.Glu162Gln) n.2905G>C c.545G>C (p.Arg182Thr) c.448G>C (p.Glu150Gln) c.278G>C (p.Arg93Thr) c.-113G>C (n.-113G>C) | |
| X | g.154031271C>T | CA415173645 | MECP2 | c.557G>A (p.Arg186Lys) c.593G>A (p.Arg198Lys) c.65+125G>A c.484G>A (p.Glu162Lys) n.2905G>A c.545G>A (p.Arg182Lys) c.448G>A (p.Glu150Lys) c.278G>A (p.Arg93Lys) c.-113G>A (n.-113G>A) | |
| X | g.154031272T>A | CA294707 | MECP2 | c.556A>T (p.Arg186Ter) c.592A>T (p.Arg198Ter) c.65+124A>T c.483A>T (p.Ala161=) n.2904A>T c.544A>T (p.Arg182Ter) c.447A>T (p.Ala149=) c.277A>T (p.Arg93Ter) c.-114A>T (n.-114A>T) | ClinVar dbSNP |
| X | g.154031272T>C | CA415173655 | MECP2 | c.556A>G (p.Arg186Gly) c.592A>G (p.Arg198Gly) c.65+124A>G c.483A>G (p.Ala161=) n.2904A>G c.544A>G (p.Arg182Gly) c.447A>G (p.Ala149=) c.277A>G (p.Arg93Gly) c.-114A>G (n.-114A>G) | |
| X | g.154031272T>G | CA519705674 | MECP2 | c.556A>C (p.Arg186=) c.592A>C (p.Arg198=) c.65+124A>C c.483A>C (p.Ala161=) n.2904A>C c.544A>C (p.Arg182=) c.447A>C (p.Ala149=) c.277A>C (p.Arg93=) c.-114A>C (n.-114A>C) | |
| X | g.154031272T= | CA2466570929 | MECP2 | c.556A= (p.Arg186=) c.592A= (p.Arg198=) c.65+124A= c.483A= (p.Ala161=) n.2904A= c.544A= (p.Arg182=) c.447A= (p.Ala149=) c.277A= (p.Arg93=) c.-114A= (n.-114A=) | |
| X | g.154031273G>A | CA10558591 | MECP2 | c.555C>T (p.Gly185=) c.591C>T (p.Gly197=) c.65+123C>T c.482C>T (p.Ala161Val) n.2903C>T c.543C>T (p.Gly181=) c.446C>T (p.Ala149Val) c.276C>T (p.Gly92=) c.-115C>T (n.-115C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154031273G>C | CA415173658 | MECP2 | c.555C>G (p.Gly185=) c.591C>G (p.Gly197=) c.65+123C>G c.482C>G (p.Ala161Gly) n.2903C>G c.543C>G (p.Gly181=) c.446C>G (p.Ala149Gly) c.276C>G (p.Gly92=) c.-115C>G (n.-115C>G) | |
| X | g.154031273G= | CA2466570931 | MECP2 | c.555C= (p.Gly185=) c.591C= (p.Gly197=) c.65+123C= c.482C= (p.Ala161=) n.2903C= c.543C= (p.Gly181=) c.446C= (p.Ala149=) c.276C= (p.Gly92=) c.-115C= (n.-115C=) | |
| X | g.154031273G>T | CA10558592 | MECP2 | c.555C>A (p.Gly185=) c.591C>A (p.Gly197=) c.65+123C>A c.482C>A (p.Ala161Glu) n.2903C>A c.543C>A (p.Gly181=) c.446C>A (p.Ala149Glu) c.276C>A (p.Gly92=) c.-115C>A (n.-115C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| X | g.154031273_154031274delinsGC | CA2466570930 | MECP2 | c.554_555delinsGC (p.Gly185=) c.590_591delinsGC (p.Gly197=) c.65+122_65+123delinsGC c.481_482delinsGC (p.Ala161=) n.2902_2903delinsGC c.542_543delinsGC (p.Gly181=) c.445_446delinsGC (p.Ala149=) c.275_276delinsGC (p.Gly92=) c.-116_-115delinsGC (n.-116_-115delinsGC) | |
| X | g.154031274C>A | CA415173660 | MECP2 | c.554G>T (p.Gly185Val) c.590G>T (p.Gly197Val) c.65+122G>T c.481G>T (p.Ala161Ser) n.2902G>T c.542G>T (p.Gly181Val) c.445G>T (p.Ala149Ser) c.275G>T (p.Gly92Val) c.-116G>T (n.-116G>T) | gnomAD v4 |
| X | g.154031274C>G | CA415173661 | MECP2 | c.554G>C (p.Gly185Ala) c.590G>C (p.Gly197Ala) c.65+122G>C c.481G>C (p.Ala161Pro) n.2902G>C c.542G>C (p.Gly181Ala) c.445G>C (p.Ala149Pro) c.275G>C (p.Gly92Ala) c.-116G>C (n.-116G>C) | |
| X | g.154031274C>T | CA415173662 | MECP2 | c.554G>A (p.Gly185Asp) c.590G>A (p.Gly197Asp) c.65+122G>A c.481G>A (p.Ala161Thr) n.2902G>A c.542G>A (p.Gly181Asp) c.445G>A (p.Ala149Thr) c.275G>A (p.Gly92Asp) c.-116G>A (n.-116G>A) | |
| X | g.154031275del | CA270466 | MECP2 | c.554del (p.Gly185AlafsTer25) c.590del (p.Gly197AlafsTer25) c.65+122del c.481del (p.Ala161GlnfsTer?) n.2902del c.542del (p.Gly181AlafsTer25) c.445del (p.Ala149GlnfsTer?) c.275del (p.Gly92AlafsTer25) c.-116del (n.-116del) | ClinVar dbSNP |
| X | g.154031275C>A | CA415173667 | MECP2 | c.553G>T (p.Gly185Cys) c.589G>T (p.Gly197Cys) c.65+121G>T c.480G>T (p.Leu160=) n.2901G>T c.541G>T (p.Gly181Cys) c.444G>T (p.Leu148=) c.274G>T (p.Gly92Cys) c.-117G>T (n.-117G>T) | ClinVar |
| X | g.154031275C= | CA2466570932 | MECP2 | c.553G= (p.Gly185=) c.589G= (p.Gly197=) c.65+121G= c.480G= (p.Leu160=) n.2901G= c.541G= (p.Gly181=) c.444G= (p.Leu148=) c.274G= (p.Gly92=) c.-117G= (n.-117G=) | |
| X | g.154031275C>G | CA415173666 | MECP2 | c.553G>C (p.Gly185Arg) c.589G>C (p.Gly197Arg) c.65+121G>C c.480G>C (p.Leu160=) n.2901G>C c.541G>C (p.Gly181Arg) c.444G>C (p.Leu148=) c.274G>C (p.Gly92Arg) c.-117G>C (n.-117G>C) | |
| X | g.154031275C>T | CA294704 | MECP2 | c.553G>A (p.Gly185Ser) c.589G>A (p.Gly197Ser) c.65+121G>A c.480G>A (p.Leu160=) n.2901G>A c.541G>A (p.Gly181Ser) c.444G>A (p.Leu148=) c.274G>A (p.Gly92Ser) c.-117G>A (n.-117G>A) | ClinVar dbSNP |