WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.154031310G>A | CA415173955 | MECP2 | c.518C>T (p.Pro173Leu) c.554C>T (p.Pro185Leu) c.65+86C>T c.469-24C>T (n.469-24C>T) n.2866C>T c.504C>T (p.Thr168=) c.506C>T (p.Pro169Leu) c.433-24C>T (n.433-24C>T) c.239C>T (p.Pro80Leu) c.-128-24C>T (n.-128-24C>T) | gnomAD v4 |
| X | g.154031310G>C | CA170316 | MECP2 | c.518C>G (p.Pro173Arg) c.554C>G (p.Pro185Arg) c.65+86C>G c.469-24C>G (n.469-24C>G) n.2866C>G c.504C>G (p.Thr168=) c.506C>G (p.Pro169Arg) c.433-24C>G (n.433-24C>G) c.239C>G (p.Pro80Arg) c.-128-24C>G (n.-128-24C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154031310G= | CA2466570958 | MECP2 | c.518C= (p.Pro173=) c.554C= (p.Pro185=) c.65+86C= c.469-24C= (n.469-24C=) n.2866C= c.504C= (p.Thr168=) c.506C= (p.Pro169=) c.433-24C= (n.433-24C=) c.239C= (p.Pro80=) c.-128-24C= (n.-128-24C=) | |
| X | g.154031310G>T | CA415173953 | MECP2 | c.518C>A (p.Pro173His) c.554C>A (p.Pro185His) c.65+86C>A c.469-24C>A (n.469-24C>A) n.2866C>A c.504C>A (p.Thr168=) c.506C>A (p.Pro169His) c.433-24C>A (n.433-24C>A) c.239C>A (p.Pro80His) c.-128-24C>A (n.-128-24C>A) | |
| X | g.154031311G>A | CA415173957 | MECP2 | c.517C>T (p.Pro173Ser) c.553C>T (p.Pro185Ser) c.65+85C>T c.469-25C>T (n.469-25C>T) n.2865C>T c.503C>T (p.Thr168Ile) c.505C>T (p.Pro169Ser) c.433-25C>T (n.433-25C>T) c.238C>T (p.Pro80Ser) c.-128-25C>T (n.-128-25C>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154031311G>C | CA270458 | MECP2 | c.517C>G (p.Pro173Ala) c.553C>G (p.Pro185Ala) c.65+85C>G c.469-25C>G (n.469-25C>G) n.2865C>G c.503C>G (p.Thr168Ser) c.505C>G (p.Pro169Ala) c.433-25C>G (n.433-25C>G) c.238C>G (p.Pro80Ala) c.-128-25C>G (n.-128-25C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154031311G= | CA2466570959 | MECP2 | c.517C= (p.Pro173=) c.553C= (p.Pro185=) c.65+85C= c.469-25C= (n.469-25C=) n.2865C= c.503C= (p.Thr168=) c.505C= (p.Pro169=) c.433-25C= (n.433-25C=) c.238C= (p.Pro80=) c.-128-25C= (n.-128-25C=) | |
| X | g.154031311G>T | CA415173958 | MECP2 | c.517C>A (p.Pro173Thr) c.553C>A (p.Pro185Thr) c.65+85C>A c.469-25C>A (n.469-25C>A) n.2865C>A c.503C>A (p.Thr168Asn) c.505C>A (p.Pro169Thr) c.433-25C>A (n.433-25C>A) c.238C>A (p.Pro80Thr) c.-128-25C>A (n.-128-25C>A) | ClinVar dbSNP gnomAD v4 |
| X | g.154031312T>A | CA415173960 | MECP2 | c.516A>T (p.Pro172=) c.552A>T (p.Pro184=) c.65+84A>T c.469-26A>T (n.469-26A>T) n.2864A>T c.502A>T (p.Thr168Ser) c.504A>T (p.Pro168=) c.433-26A>T (n.433-26A>T) c.237A>T (p.Pro79=) c.-128-26A>T (n.-128-26A>T) | |
| X | g.154031312T>C | CA415173962 | MECP2 | c.516A>G (p.Pro172=) c.552A>G (p.Pro184=) c.65+84A>G c.469-26A>G (n.469-26A>G) n.2864A>G c.502A>G (p.Thr168Ala) c.504A>G (p.Pro168=) c.433-26A>G (n.433-26A>G) c.237A>G (p.Pro79=) c.-128-26A>G (n.-128-26A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154031312T>G | CA415173966 | MECP2 | c.516A>C (p.Pro172=) c.552A>C (p.Pro184=) c.65+84A>C c.469-26A>C (n.469-26A>C) n.2864A>C c.502A>C (p.Thr168Pro) c.504A>C (p.Pro168=) c.433-26A>C (n.433-26A>C) c.237A>C (p.Pro79=) c.-128-26A>C (n.-128-26A>C) | |
| X | g.154031312T= | CA2466570960 | MECP2 | c.516A= (p.Pro172=) c.552A= (p.Pro184=) c.65+84A= c.469-26A= (n.469-26A=) n.2864A= c.502A= (p.Thr168=) c.504A= (p.Pro168=) c.433-26A= (n.433-26A=) c.237A= (p.Pro79=) c.-128-26A= (n.-128-26A=) | |
| X | g.154031313G>A | CA170313 | MECP2 | c.515C>T (p.Pro172Leu) c.551C>T (p.Pro184Leu) c.65+83C>T c.469-27C>T (n.469-27C>T) n.2863C>T c.501C>T (p.Thr167=) c.503C>T (p.Pro168Leu) c.433-27C>T (n.433-27C>T) c.236C>T (p.Pro79Leu) c.-128-27C>T (n.-128-27C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154031313G>C | CA415173970 | MECP2 | c.515C>G (p.Pro172Arg) c.551C>G (p.Pro184Arg) c.65+83C>G c.469-27C>G (n.469-27C>G) n.2863C>G c.501C>G (p.Thr167=) c.503C>G (p.Pro168Arg) c.433-27C>G (n.433-27C>G) c.236C>G (p.Pro79Arg) c.-128-27C>G (n.-128-27C>G) | gnomAD v4 |
| X | g.154031313G= | CA2466570961 | MECP2 | c.515C= (p.Pro172=) c.551C= (p.Pro184=) c.65+83C= c.469-27C= (n.469-27C=) n.2863C= c.501C= (p.Thr167=) c.503C= (p.Pro168=) c.433-27C= (n.433-27C=) c.236C= (p.Pro79=) c.-128-27C= (n.-128-27C=) | |
| X | g.154031313G>T | CA415173973 | MECP2 | c.515C>A (p.Pro172Gln) c.551C>A (p.Pro184Gln) c.65+83C>A c.469-27C>A (n.469-27C>A) n.2863C>A c.501C>A (p.Thr167=) c.503C>A (p.Pro168Gln) c.433-27C>A (n.433-27C>A) c.236C>A (p.Pro79Gln) c.-128-27C>A (n.-128-27C>A) | |
| X | g.154031314G>A | CA170310 | MECP2 | c.514C>T (p.Pro172Ser) c.550C>T (p.Pro184Ser) c.65+82C>T c.469-28C>T (n.469-28C>T) n.2862C>T c.500C>T (p.Thr167Ile) c.502C>T (p.Pro168Ser) c.433-28C>T (n.433-28C>T) c.235C>T (p.Pro79Ser) c.-128-28C>T (n.-128-28C>T) | ClinVar dbSNP gnomAD v4 |
| X | g.154031314G>C | CA415173980 | MECP2 | c.514C>G (p.Pro172Ala) c.550C>G (p.Pro184Ala) c.65+82C>G c.469-28C>G (n.469-28C>G) n.2862C>G c.500C>G (p.Thr167Ser) c.502C>G (p.Pro168Ala) c.433-28C>G (n.433-28C>G) c.235C>G (p.Pro79Ala) c.-128-28C>G (n.-128-28C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154031314G= | CA2466570962 | MECP2 | c.514C= (p.Pro172=) c.550C= (p.Pro184=) c.65+82C= c.469-28C= (n.469-28C=) n.2862C= c.500C= (p.Thr167=) c.502C= (p.Pro168=) c.433-28C= (n.433-28C=) c.235C= (p.Pro79=) c.-128-28C= (n.-128-28C=) | |
| X | g.154031314G>T | CA415173983 | MECP2 | c.514C>A (p.Pro172Thr) c.550C>A (p.Pro184Thr) c.65+82C>A c.469-28C>A (n.469-28C>A) n.2862C>A c.500C>A (p.Thr167Asn) c.502C>A (p.Pro168Thr) c.433-28C>A (n.433-28C>A) c.235C>A (p.Pro79Thr) c.-128-28C>A (n.-128-28C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.154031315T>A | CA415173992 | MECP2 | c.513A>T (p.Lys171Asn) c.549A>T (p.Lys183Asn) c.65+81A>T c.469-29A>T (n.469-29A>T) n.2861A>T c.499A>T (p.Thr167Ser) c.501A>T (p.Lys167Asn) c.433-29A>T (n.433-29A>T) c.234A>T (p.Lys78Asn) c.-128-29A>T (n.-128-29A>T) | |
| X | g.154031315T>C | CA10558601 | MECP2 | c.513A>G (p.Lys171=) c.549A>G (p.Lys183=) c.65+81A>G c.469-29A>G (n.469-29A>G) n.2861A>G c.499A>G (p.Thr167Ala) c.501A>G (p.Lys167=) c.433-29A>G (n.433-29A>G) c.234A>G (p.Lys78=) c.-128-29A>G (n.-128-29A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154031315T>G | CA415173986 | MECP2 | c.513A>C (p.Lys171Asn) c.549A>C (p.Lys183Asn) c.65+81A>C c.469-29A>C (n.469-29A>C) n.2861A>C c.499A>C (p.Thr167Pro) c.501A>C (p.Lys167Asn) c.433-29A>C (n.433-29A>C) c.234A>C (p.Lys78Asn) c.-128-29A>C (n.-128-29A>C) | |
| X | g.154031315T= | CA2466570963 | MECP2 | c.513A= (p.Lys171=) c.549A= (p.Lys183=) c.65+81A= c.469-29A= (n.469-29A=) n.2861A= c.499A= (p.Thr167=) c.501A= (p.Lys167=) c.433-29A= (n.433-29A=) c.234A= (p.Lys78=) c.-128-29A= (n.-128-29A=) | |
| X | g.154031316T>A | CA415174008 | MECP2 | c.512A>T (p.Lys171Ile) c.548A>T (p.Lys183Ile) c.65+80A>T c.469-30A>T (n.469-30A>T) n.2860A>T c.498A>T (p.Glu166Asp) c.500A>T (p.Lys167Ile) c.433-30A>T (n.433-30A>T) c.233A>T (p.Lys78Ile) c.-128-30A>T (n.-128-30A>T) | |
| X | g.154031316T>C | CA415174001 | MECP2 | c.512A>G (p.Lys171Arg) c.548A>G (p.Lys183Arg) c.65+80A>G c.469-30A>G (n.469-30A>G) n.2860A>G c.498A>G (p.Glu166=) c.500A>G (p.Lys167Arg) c.433-30A>G (n.433-30A>G) c.233A>G (p.Lys78Arg) c.-128-30A>G (n.-128-30A>G) | gnomAD v4 |
| X | g.154031316T>G | CA415174005 | MECP2 | c.512A>C (p.Lys171Thr) c.548A>C (p.Lys183Thr) c.65+80A>C c.469-30A>C (n.469-30A>C) n.2860A>C c.498A>C (p.Glu166Asp) c.500A>C (p.Lys167Thr) c.433-30A>C (n.433-30A>C) c.233A>C (p.Lys78Thr) c.-128-30A>C (n.-128-30A>C) |