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.154031294_154031302del | CA1138554651 | MECP2 | c.532_540del (p.Ser178_Lys180del) c.568_576del (p.Ser190_Lys192del) c.65+100_65+108del c.469-10_469-2del (n.469-10_469-2del) n.2880_2888del c.520_528del (p.Ser174_Lys176del) c.433-10_433-2del (n.433-10_433-2del) c.253_261del (p.Ser85_Lys87del) c.-128-10_-128-2del (n.-128-10_-128-2del) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154031302dup | CA337264333 | MECP2 | c.528dup (p.Lys177GlnfsTer?) c.564dup (p.Lys189GlnfsTer?) c.65+96dup c.469-14dup (n.469-14dup) n.2876dup c.516dup (p.Lys173GlnfsTer?) c.433-14dup (n.433-14dup) c.249dup (p.Lys84GlnfsTer?) c.-128-14dup (n.-128-14dup) | dbSNP |
| X | g.154031302del | CA2695197152 | MECP2 | c.528del (p.Lys177AsnfsTer?) c.564del (p.Lys189AsnfsTer?) c.65+96del c.469-14del (n.469-14del) n.2876del c.516del (p.Lys173AsnfsTer?) c.433-14del (n.433-14del) c.249del (p.Lys84AsnfsTer?) c.-128-14del (n.-128-14del) | ClinVar |
| X | g.154031301G>A | CA16616643 | MECP2 | c.527C>T (p.Pro176Leu) c.563C>T (p.Pro188Leu) c.65+95C>T c.469-15C>T (n.469-15C>T) n.2875C>T c.515C>T (p.Pro172Leu) c.433-15C>T (n.433-15C>T) c.248C>T (p.Pro83Leu) c.-128-15C>T (n.-128-15C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.154031301G>C | CA170319 | MECP2 | c.527C>G (p.Pro176Arg) c.563C>G (p.Pro188Arg) c.65+95C>G c.469-15C>G (n.469-15C>G) n.2875C>G c.515C>G (p.Pro172Arg) c.433-15C>G (n.433-15C>G) c.248C>G (p.Pro83Arg) c.-128-15C>G (n.-128-15C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154031301G= | CA2466570953 | MECP2 | c.527C= (p.Pro176=) c.563C= (p.Pro188=) c.65+95C= c.469-15C= (n.469-15C=) n.2875C= c.515C= (p.Pro172=) c.433-15C= (n.433-15C=) c.248C= (p.Pro83=) c.-128-15C= (n.-128-15C=) | |
| X | g.154031301G>T | CA245268 | MECP2 | c.527C>A (p.Pro176His) c.563C>A (p.Pro188His) c.65+95C>A c.469-15C>A (n.469-15C>A) n.2875C>A c.515C>A (p.Pro172His) c.433-15C>A (n.433-15C>A) c.248C>A (p.Pro83His) c.-128-15C>A (n.-128-15C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154031302G>A | CA10558598 | MECP2 | c.526C>T (p.Pro176Ser) c.562C>T (p.Pro188Ser) c.65+94C>T c.469-16C>T (n.469-16C>T) n.2874C>T c.514C>T (p.Pro172Ser) c.433-16C>T (n.433-16C>T) c.247C>T (p.Pro83Ser) c.-128-16C>T (n.-128-16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.154031302G>C | CA415173876 | MECP2 | c.526C>G (p.Pro176Ala) c.562C>G (p.Pro188Ala) c.65+94C>G c.469-16C>G (n.469-16C>G) n.2874C>G c.514C>G (p.Pro172Ala) c.433-16C>G (n.433-16C>G) c.247C>G (p.Pro83Ala) c.-128-16C>G (n.-128-16C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.154031302G= | CA2466570954 | MECP2 | c.526C= (p.Pro176=) c.562C= (p.Pro188=) c.65+94C= c.469-16C= (n.469-16C=) n.2874C= c.514C= (p.Pro172=) c.433-16C= (n.433-16C=) c.247C= (p.Pro83=) c.-128-16C= (n.-128-16C=) | |
| X | g.154031302G>T | CA415173886 | MECP2 | c.526C>A (p.Pro176Thr) c.562C>A (p.Pro188Thr) c.65+94C>A c.469-16C>A (n.469-16C>A) n.2874C>A c.514C>A (p.Pro172Thr) c.433-16C>A (n.433-16C>A) c.247C>A (p.Pro83Thr) c.-128-16C>A (n.-128-16C>A) | |
| X | g.154031303C>A | CA415173888 | MECP2 | c.525G>T (p.Lys175Asn) c.561G>T (p.Lys187Asn) c.65+93G>T c.469-17G>T (n.469-17G>T) n.2873G>T c.513G>T (p.Lys171Asn) c.433-17G>T (n.433-17G>T) c.246G>T (p.Lys82Asn) c.-128-17G>T (n.-128-17G>T) | |
| X | g.154031303C>G | CA415173898 | MECP2 | c.525G>C (p.Lys175Asn) c.561G>C (p.Lys187Asn) c.65+93G>C c.469-17G>C (n.469-17G>C) n.2873G>C c.513G>C (p.Lys171Asn) c.433-17G>C (n.433-17G>C) c.246G>C (p.Lys82Asn) c.-128-17G>C (n.-128-17G>C) | |
| X | g.154031303C>T | CA519705716 | MECP2 | c.525G>A (p.Lys175=) c.561G>A (p.Lys187=) c.65+93G>A c.469-17G>A (n.469-17G>A) n.2873G>A c.513G>A (p.Lys171=) c.433-17G>A (n.433-17G>A) c.246G>A (p.Lys82=) c.-128-17G>A (n.-128-17G>A) | ClinVar |
| X | g.154031304T>A | CA415173903 | MECP2 | c.524A>T (p.Lys175Met) c.560A>T (p.Lys187Met) c.65+92A>T c.469-18A>T (n.469-18A>T) n.2872A>T c.512A>T (p.Lys171Met) c.433-18A>T (n.433-18A>T) c.245A>T (p.Lys82Met) c.-128-18A>T (n.-128-18A>T) | |
| X | g.154031304T>C | CA415173905 | MECP2 | c.524A>G (p.Lys175Arg) c.560A>G (p.Lys187Arg) c.65+92A>G c.469-18A>G (n.469-18A>G) n.2872A>G c.512A>G (p.Lys171Arg) c.433-18A>G (n.433-18A>G) c.245A>G (p.Lys82Arg) c.-128-18A>G (n.-128-18A>G) | |
| X | g.154031304T>G | CA415173908 | MECP2 | c.524A>C (p.Lys175Thr) c.560A>C (p.Lys187Thr) c.65+92A>C c.469-18A>C (n.469-18A>C) n.2872A>C c.512A>C (p.Lys171Thr) c.433-18A>C (n.433-18A>C) c.245A>C (p.Lys82Thr) c.-128-18A>C (n.-128-18A>C) | gnomAD v4 |
| X | g.154031305T>A | CA232979 | MECP2 | c.523A>T (p.Lys175Ter) c.559A>T (p.Lys187Ter) c.65+91A>T c.469-19A>T (n.469-19A>T) n.2871A>T c.511A>T (p.Lys171Ter) c.433-19A>T (n.433-19A>T) c.244A>T (p.Lys82Ter) c.-128-19A>T (n.-128-19A>T) | ClinVar dbSNP |
| X | g.154031305T>C | CA415173924 | MECP2 | c.523A>G (p.Lys175Glu) c.559A>G (p.Lys187Glu) c.65+91A>G c.469-19A>G (n.469-19A>G) n.2871A>G c.511A>G (p.Lys171Glu) c.433-19A>G (n.433-19A>G) c.244A>G (p.Lys82Glu) c.-128-19A>G (n.-128-19A>G) | |
| X | g.154031305T>G | CA415173913 | MECP2 | c.523A>C (p.Lys175Gln) c.559A>C (p.Lys187Gln) c.65+91A>C c.469-19A>C (n.469-19A>C) n.2871A>C c.511A>C (p.Lys171Gln) c.433-19A>C (n.433-19A>C) c.244A>C (p.Lys82Gln) c.-128-19A>C (n.-128-19A>C) | |
| X | g.154031305T= | CA2466570955 | MECP2 | c.523A= (p.Lys175=) c.559A= (p.Lys187=) c.65+91A= c.469-19A= (n.469-19A=) n.2871A= c.511A= (p.Lys171=) c.433-19A= (n.433-19A=) c.244A= (p.Lys82=) c.-128-19A= (n.-128-19A=) | |
| X | g.154031306C>A | CA415173930 | MECP2 | c.522G>T (p.Lys174Asn) c.558G>T (p.Lys186Asn) c.65+90G>T c.469-20G>T (n.469-20G>T) n.2870G>T c.510G>T (p.Lys170Asn) c.433-20G>T (n.433-20G>T) c.243G>T (p.Lys81Asn) c.-128-20G>T (n.-128-20G>T) | |
| X | g.154031306C>G | CA415173931 | MECP2 | c.522G>C (p.Lys174Asn) c.558G>C (p.Lys186Asn) c.65+90G>C c.469-20G>C (n.469-20G>C) n.2870G>C c.510G>C (p.Lys170Asn) c.433-20G>C (n.433-20G>C) c.243G>C (p.Lys81Asn) c.-128-20G>C (n.-128-20G>C) | |
| X | g.154031306C>T | CA519705725 | MECP2 | c.522G>A (p.Lys174=) c.558G>A (p.Lys186=) c.65+90G>A c.469-20G>A (n.469-20G>A) n.2870G>A c.510G>A (p.Lys170=) c.433-20G>A (n.433-20G>A) c.243G>A (p.Lys81=) c.-128-20G>A (n.-128-20G>A) | |
| X | g.154031307T>A | CA415173932 | MECP2 | c.521A>T (p.Lys174Met) c.557A>T (p.Lys186Met) c.65+89A>T c.469-21A>T (n.469-21A>T) n.2869A>T c.507A>T (p.Ter169Tyr) c.509A>T (p.Lys170Met) c.433-21A>T (n.433-21A>T) c.242A>T (p.Lys81Met) c.-128-21A>T (n.-128-21A>T) | |
| X | g.154031307T>C | CA10558599 | MECP2 | c.521A>G (p.Lys174Arg) c.557A>G (p.Lys186Arg) c.65+89A>G c.469-21A>G (n.469-21A>G) n.2869A>G c.507A>G (p.Ter169=) c.509A>G (p.Lys170Arg) c.433-21A>G (n.433-21A>G) c.242A>G (p.Lys81Arg) c.-128-21A>G (n.-128-21A>G) | dbSNP ExAC |