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.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.154031277G>A | CA415173678 | MECP2 | c.551C>T (p.Thr184Ile) c.587C>T (p.Thr196Ile) c.65+119C>T c.478C>T (p.Leu160=) n.2899C>T c.539C>T (p.Thr180Ile) c.442C>T (p.Leu148=) c.272C>T (p.Thr91Ile) c.-119C>T (n.-119C>T) | |
| X | g.154031277G>C | CA10558593 | MECP2 | c.551C>G (p.Thr184Ser) c.587C>G (p.Thr196Ser) c.65+119C>G c.478C>G (p.Leu160Val) n.2899C>G c.539C>G (p.Thr180Ser) c.442C>G (p.Leu148Val) c.272C>G (p.Thr91Ser) c.-119C>G (n.-119C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154031277G= | CA2466570933 | MECP2 | c.551C= (p.Thr184=) c.587C= (p.Thr196=) c.65+119C= c.478C= (p.Leu160=) n.2899C= c.539C= (p.Thr180=) c.442C= (p.Leu148=) c.272C= (p.Thr91=) c.-119C= (n.-119C=) | |
| X | g.154031277G>T | CA415173687 | MECP2 | c.551C>A (p.Thr184Asn) c.587C>A (p.Thr196Asn) c.65+119C>A c.478C>A (p.Leu160Met) n.2899C>A c.539C>A (p.Thr180Asn) c.442C>A (p.Leu148Met) c.272C>A (p.Thr91Asn) c.-119C>A (n.-119C>A) | |
| X | g.154031278T>A | CA415173706 | MECP2 | c.550A>T (p.Thr184Ser) c.586A>T (p.Thr196Ser) c.65+118A>T c.477A>T (p.Glu159Asp) n.2898A>T c.538A>T (p.Thr180Ser) c.441A>T (p.Glu147Asp) c.271A>T (p.Thr91Ser) c.-120A>T (n.-120A>T) | |
| X | g.154031278T>C | CA415173700 | MECP2 | c.550A>G (p.Thr184Ala) c.586A>G (p.Thr196Ala) c.65+118A>G c.477A>G (p.Glu159=) n.2898A>G c.538A>G (p.Thr180Ala) c.441A>G (p.Glu147=) c.271A>G (p.Thr91Ala) c.-120A>G (n.-120A>G) | dbSNP |
| X | g.154031278T>G | CA415173702 | MECP2 | c.550A>C (p.Thr184Pro) c.586A>C (p.Thr196Pro) c.65+118A>C c.477A>C (p.Glu159Asp) n.2898A>C c.538A>C (p.Thr180Pro) c.441A>C (p.Glu147Asp) c.271A>C (p.Thr91Pro) c.-120A>C (n.-120A>C) | COSMIC |
| X | g.154031278T= | CA2466570934 | MECP2 | c.550A= (p.Thr184=) c.586A= (p.Thr196=) c.65+118A= c.477A= (p.Glu159=) n.2898A= c.538A= (p.Thr180=) c.441A= (p.Glu147=) c.271A= (p.Thr91=) c.-120A= (n.-120A=) | |
| X | g.154031279T>A | CA415173708 | MECP2 | c.549A>T (p.Gly183=) c.585A>T (p.Gly195=) c.65+117A>T c.476A>T (p.Glu159Val) n.2897A>T c.537A>T (p.Gly179=) c.440A>T (p.Glu147Val) c.270A>T (p.Gly90=) c.-121A>T (n.-121A>T) | |
| X | g.154031279T>C | CA415173711 | MECP2 | c.549A>G (p.Gly183=) c.585A>G (p.Gly195=) c.65+117A>G c.476A>G (p.Glu159Gly) n.2897A>G c.537A>G (p.Gly179=) c.440A>G (p.Glu147Gly) c.270A>G (p.Gly90=) c.-121A>G (n.-121A>G) | |
| X | g.154031279T>G | CA415173719 | MECP2 | c.549A>C (p.Gly183=) c.585A>C (p.Gly195=) c.65+117A>C c.476A>C (p.Glu159Ala) n.2897A>C c.537A>C (p.Gly179=) c.440A>C (p.Glu147Ala) c.270A>C (p.Gly90=) c.-121A>C (n.-121A>C) | |
| X | g.154031280C>A | CA415173721 | MECP2 | c.548G>T (p.Gly183Val) c.584G>T (p.Gly195Val) c.65+116G>T c.475G>T (p.Glu159Ter) n.2896G>T c.536G>T (p.Gly179Val) c.439G>T (p.Glu147Ter) c.269G>T (p.Gly90Val) c.-122G>T (n.-122G>T) | |
| X | g.154031280C>G | CA415173725 | MECP2 | c.548G>C (p.Gly183Ala) c.584G>C (p.Gly195Ala) c.65+116G>C c.475G>C (p.Glu159Gln) n.2896G>C c.536G>C (p.Gly179Ala) c.439G>C (p.Glu147Gln) c.269G>C (p.Gly90Ala) c.-122G>C (n.-122G>C) | |
| X | g.154031280C>T | CA415173727 | MECP2 | c.548G>A (p.Gly183Glu) c.584G>A (p.Gly195Glu) c.65+116G>A c.475G>A (p.Glu159Lys) n.2896G>A c.536G>A (p.Gly179Glu) c.439G>A (p.Glu147Lys) c.269G>A (p.Gly90Glu) c.-122G>A (n.-122G>A) | |
| X | g.154031281C>A | CA415173730 | MECP2 | c.547G>T (p.Gly183Ter) c.583G>T (p.Gly195Ter) c.65+115G>T c.474G>T (p.Gln158His) n.2895G>T c.535G>T (p.Gly179Ter) c.438G>T (p.Gln146His) c.268G>T (p.Gly90Ter) c.-123G>T (n.-123G>T) | |
| X | g.154031281C= | CA2466570935 | MECP2 | c.547G= (p.Gly183=) c.583G= (p.Gly195=) c.65+115G= c.474G= (p.Gln158=) n.2895G= c.535G= (p.Gly179=) c.438G= (p.Gln146=) c.268G= (p.Gly90=) c.-123G= (n.-123G=) | |
| X | g.154031281C>G | CA170325 | MECP2 | c.547G>C (p.Gly183Arg) c.583G>C (p.Gly195Arg) c.65+115G>C c.474G>C (p.Gln158His) n.2895G>C c.535G>C (p.Gly179Arg) c.438G>C (p.Gln146His) c.268G>C (p.Gly90Arg) c.-123G>C (n.-123G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.154031281C>T | CA415173745 | MECP2 | c.547G>A (p.Gly183Arg) c.583G>A (p.Gly195Arg) c.65+115G>A c.474G>A (p.Gln158=) n.2895G>A c.535G>A (p.Gly179Arg) c.438G>A (p.Gln146=) c.268G>A (p.Gly90Arg) c.-123G>A (n.-123G>A) | |
| X | g.154031282T>A | CA415173748 | MECP2 | c.546A>T (p.Pro182=) c.582A>T (p.Pro194=) c.65+114A>T c.473A>T (p.Gln158Leu) n.2894A>T c.534A>T (p.Pro178=) c.437A>T (p.Gln146Leu) c.267A>T (p.Pro89=) c.-124A>T (n.-124A>T) | |
| X | g.154031282T>C | CA415173749 | MECP2 | c.546A>G (p.Pro182=) c.582A>G (p.Pro194=) c.65+114A>G c.473A>G (p.Gln158Arg) n.2894A>G c.534A>G (p.Pro178=) c.437A>G (p.Gln146Arg) c.267A>G (p.Pro89=) c.-124A>G (n.-124A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.154031282T>G | CA415173750 | MECP2 | c.546A>C (p.Pro182=) c.582A>C (p.Pro194=) c.65+114A>C c.473A>C (p.Gln158Pro) n.2894A>C c.534A>C (p.Pro178=) c.437A>C (p.Gln146Pro) c.267A>C (p.Pro89=) c.-124A>C (n.-124A>C) | |
| X | g.154031282T= | CA2466570936 | MECP2 | c.546A= (p.Pro182=) c.582A= (p.Pro194=) c.65+114A= c.473A= (p.Gln158=) n.2894A= c.534A= (p.Pro178=) c.437A= (p.Gln146=) c.267A= (p.Pro89=) c.-124A= (n.-124A=) | |
| X | g.154031283G>A | CA415173752 | MECP2 | c.545C>T (p.Pro182Leu) c.581C>T (p.Pro194Leu) c.65+113C>T c.472C>T (p.Gln158Ter) n.2893C>T c.533C>T (p.Pro178Leu) c.436C>T (p.Gln146Ter) c.266C>T (p.Pro89Leu) c.-125C>T (n.-125C>T) | gnomAD v4 |
| X | g.154031283G>C | CA415173757 | MECP2 | c.545C>G (p.Pro182Arg) c.581C>G (p.Pro194Arg) c.65+113C>G c.472C>G (p.Gln158Glu) n.2893C>G c.533C>G (p.Pro178Arg) c.436C>G (p.Gln146Glu) c.266C>G (p.Pro89Arg) c.-125C>G (n.-125C>G) | |
| X | g.154031283G>T | CA415173756 | MECP2 | c.545C>A (p.Pro182Gln) c.581C>A (p.Pro194Gln) c.65+113C>A c.472C>A (p.Gln158Lys) n.2893C>A c.533C>A (p.Pro178Gln) c.436C>A (p.Gln146Lys) c.266C>A (p.Pro89Gln) c.-125C>A (n.-125C>A) | gnomAD v4 |
| X | g.154031283_154031285delinsGGA | CA2466570937 | MECP2 | c.543_545delinsTCC (p.Ala181=) c.579_581delinsTCC (p.Ala193=) c.65+111_65+113delinsTCC c.470_472delinsTCC (p.Leu157=) n.2891_2893delinsTCC c.531_533delinsTCC (p.Ala177=) c.434_436delinsTCC (p.Leu145=) c.264_266delinsTCC (p.Ala88=) c.-127_-125delinsTCC (n.-127_-125delinsTCC) |