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.154031258del | CA273835 | MECP2 | c.573del (p.Ser194AlafsTer16) c.609del (p.Ser206AlafsTer16) c.65+141del c.500del (p.Pro167GlnfsTer?) c.561del (p.Ser190AlafsTer16) c.464del (p.Pro155GlnfsTer?) c.294del (p.Ser101AlafsTer16) c.-97del (n.-97del) | dbSNP |
| X | g.154031257G>A | CA415173376 | MECP2 | c.571C>T (p.Pro191Ser) c.607C>T (p.Pro203Ser) c.65+139C>T c.498C>T (p.Ala166=) c.559C>T (p.Pro187Ser) c.462C>T (p.Ala154=) c.292C>T (p.Pro98Ser) c.-99C>T (n.-99C>T) | gnomAD v4 |
| X | g.154031257G>C | CA415173378 | MECP2 | c.571C>G (p.Pro191Ala) c.607C>G (p.Pro203Ala) c.65+139C>G c.498C>G (p.Ala166=) c.559C>G (p.Pro187Ala) c.462C>G (p.Ala154=) c.292C>G (p.Pro98Ala) c.-99C>G (n.-99C>G) | |
| X | g.154031257G>T | CA415173379 | MECP2 | c.571C>A (p.Pro191Thr) c.607C>A (p.Pro203Thr) c.65+139C>A c.498C>A (p.Ala166=) c.559C>A (p.Pro187Thr) c.462C>A (p.Ala154=) c.292C>A (p.Pro98Thr) c.-99C>A (n.-99C>A) | |
| X | g.154031257_154031258insA | CA2695237596 | MECP2 | c.570_571insT (p.Pro191SerfsTer?) c.606_607insT (p.Pro203SerfsTer?) c.65+138_65+139insT c.497_498insT (p.Ala170SerfsTer?) c.558_559insT (p.Pro187SerfsTer?) c.461_462insT (p.Ala158SerfsTer?) c.291_292insT (p.Pro98SerfsTer?) c.-100_-99insT (n.-100_-99insT) | |
| X | g.154031258G>A | CA10558589 | MECP2 | c.570C>T (p.Arg190=) c.606C>T (p.Arg202=) c.65+138C>T c.497C>T (p.Ala166Val) c.558C>T (p.Arg186=) c.461C>T (p.Ala154Val) c.291C>T (p.Arg97=) c.-100C>T (n.-100C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154031258G>C | CA415173381 | MECP2 | c.570C>G (p.Arg190=) c.606C>G (p.Arg202=) c.65+138C>G c.497C>G (p.Ala166Gly) c.558C>G (p.Arg186=) c.461C>G (p.Ala154Gly) c.291C>G (p.Arg97=) c.-100C>G (n.-100C>G) | |
| X | g.154031258G= | CA2466570920 | MECP2 | c.570C= (p.Arg190=) c.606C= (p.Arg202=) c.65+138C= c.497C= (p.Ala166=) c.558C= (p.Arg186=) c.461C= (p.Ala154=) c.291C= (p.Arg97=) c.-100C= (n.-100C=) | |
| X | g.154031258G>T | CA415173383 | MECP2 | c.570C>A (p.Arg190=) c.606C>A (p.Arg202=) c.65+138C>A c.497C>A (p.Ala166Asp) c.558C>A (p.Arg186=) c.461C>A (p.Ala154Asp) c.291C>A (p.Arg97=) c.-100C>A (n.-100C>A) | dbSNP gnomAD v2 |
| X | g.154031259C>A | CA415173387 | MECP2 | c.569G>T (p.Arg190Leu) c.605G>T (p.Arg202Leu) c.65+137G>T c.496G>T (p.Ala166Ser) c.557G>T (p.Arg186Leu) c.460G>T (p.Ala154Ser) c.290G>T (p.Arg97Leu) c.-101G>T (n.-101G>T) | |
| X | g.154031259C= | CA2466570921 | MECP2 | c.569G= (p.Arg190=) c.605G= (p.Arg202=) c.65+137G= c.496G= (p.Ala166=) c.557G= (p.Arg186=) c.460G= (p.Ala154=) c.290G= (p.Arg97=) c.-101G= (n.-101G=) | |
| X | g.154031259C>G | CA415173396 | MECP2 | c.569G>C (p.Arg190Pro) c.605G>C (p.Arg202Pro) c.65+137G>C c.496G>C (p.Ala166Pro) c.557G>C (p.Arg186Pro) c.460G>C (p.Ala154Pro) c.290G>C (p.Arg97Pro) c.-101G>C (n.-101G>C) | |
| X | g.154031259C>T | CA415173401 | MECP2 | c.569G>A (p.Arg190His) c.605G>A (p.Arg202His) c.65+137G>A c.496G>A (p.Ala166Thr) c.557G>A (p.Arg186His) c.460G>A (p.Ala154Thr) c.290G>A (p.Arg97His) c.-101G>A (n.-101G>A) | ClinVar dbSNP |
| X | g.154031260G>A | CA294710 | MECP2 | c.568C>T (p.Arg190Cys) c.604C>T (p.Arg202Cys) c.65+136C>T c.495C>T (p.Asp165=) c.556C>T (p.Arg186Cys) c.459C>T (p.Asp153=) c.289C>T (p.Arg97Cys) c.-102C>T (n.-102C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154031260G>C | CA415173408 | MECP2 | c.568C>G (p.Arg190Gly) c.604C>G (p.Arg202Gly) c.65+136C>G c.495C>G (p.Asp165Glu) c.556C>G (p.Arg186Gly) c.459C>G (p.Asp153Glu) c.289C>G (p.Arg97Gly) c.-102C>G (n.-102C>G) | |
| X | g.154031260G= | CA2466570922 | MECP2 | c.568C= (p.Arg190=) c.604C= (p.Arg202=) c.65+136C= c.495C= (p.Asp165=) c.556C= (p.Arg186=) c.459C= (p.Asp153=) c.289C= (p.Arg97=) c.-102C= (n.-102C=) | |
| X | g.154031260G>T | CA415173411 | MECP2 | c.568C>A (p.Arg190Ser) c.604C>A (p.Arg202Ser) c.65+136C>A c.495C>A (p.Asp165Glu) c.556C>A (p.Arg186Ser) c.459C>A (p.Asp153Glu) c.289C>A (p.Arg97Ser) c.-102C>A (n.-102C>A) | |
| X | g.154031261T>A | CA415173416 | MECP2 | c.567A>T (p.Gly189=) c.603A>T (p.Gly201=) c.65+135A>T c.494A>T (p.Asp165Val) c.555A>T (p.Gly185=) c.458A>T (p.Asp153Val) c.288A>T (p.Gly96=) c.-103A>T (n.-103A>T) | |
| X | g.154031261T>C | CA415173418 | MECP2 | c.567A>G (p.Gly189=) c.603A>G (p.Gly201=) c.65+135A>G c.494A>G (p.Asp165Gly) c.555A>G (p.Gly185=) c.458A>G (p.Asp153Gly) c.288A>G (p.Gly96=) c.-103A>G (n.-103A>G) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154031261T>G | CA415173419 | MECP2 | c.567A>C (p.Gly189=) c.603A>C (p.Gly201=) c.65+135A>C c.494A>C (p.Asp165Ala) c.555A>C (p.Gly185=) c.458A>C (p.Asp153Ala) c.288A>C (p.Gly96=) c.-103A>C (n.-103A>C) | |
| X | g.154031261T= | CA2466570924 | MECP2 | c.567A= (p.Gly189=) c.603A= (p.Gly201=) c.65+135A= c.494A= (p.Asp165=) c.555A= (p.Gly185=) c.458A= (p.Asp153=) c.288A= (p.Gly96=) c.-103A= (n.-103A=) | |
| X | g.154031261dup | CA270472 | MECP2 | c.567dup (p.Arg190ThrfsTer?) c.603dup (p.Arg202ThrfsTer?) c.65+135dup c.494dup (p.Asp165GlufsTer?) c.555dup (p.Arg186ThrfsTer?) c.458dup (p.Asp153GlufsTer?) c.288dup (p.Arg97ThrfsTer?) c.-103dup (n.-103dup) | ClinVar dbSNP |
| X | g.154031261_154031262delinsTC | CA2466570923 | MECP2 | c.566_567delinsGA (p.Gly189=) c.602_603delinsGA (p.Gly201=) c.65+134_65+135delinsGA c.493_494delinsGA (p.Asp165=) c.554_555delinsGA (p.Gly185=) c.457_458delinsGA (p.Asp153=) c.287_288delinsGA (p.Gly96=) c.-104_-103delinsGA (n.-104_-103delinsGA) | |
| X | g.154031262C>A | CA415173420 | MECP2 | c.566G>T (p.Gly189Val) c.602G>T (p.Gly201Val) c.65+134G>T c.493G>T (p.Asp165Tyr) c.554G>T (p.Gly185Val) c.457G>T (p.Asp153Tyr) c.287G>T (p.Gly96Val) c.-104G>T (n.-104G>T) | dbSNP |
| X | g.154031262C= | CA2466570925 | MECP2 | c.566G= (p.Gly189=) c.602G= (p.Gly201=) c.65+134G= c.493G= (p.Asp165=) c.554G= (p.Gly185=) c.457G= (p.Asp153=) c.287G= (p.Gly96=) c.-104G= (n.-104G=) | |
| X | g.154031262C>G | CA415173422 | MECP2 | c.566G>C (p.Gly189Ala) c.602G>C (p.Gly201Ala) c.65+134G>C c.493G>C (p.Asp165His) c.554G>C (p.Gly185Ala) c.457G>C (p.Asp153His) c.287G>C (p.Gly96Ala) c.-104G>C (n.-104G>C) |