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_154031249del | CA2573159363 | MECP2 | c.580_1191del (p.Ser194_Glu397del) c.616_1227del (p.Ser206_Glu409del) c.507_*563del (n.[c.507_*563del;Ala170ThrfsTer?]) c.471_*563del (n.[c.471_*563del;Ala158ThrfsTer11]) c.301_912del (p.Ser101_Glu304del) c.-90_522del | ClinVar dbSNP |
| 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.154031200_154031254del | CA2697544872 | MECP2 | c.580_634del (p.Gly195TrpfsTer?) c.616_670del (p.Gly207TrpfsTer?) c.65+148_65+202del c.507_*6del (n.[c.507_*6del;Ala170ProfsTer23]) c.568_622del (p.Gly191TrpfsTer?) c.471_*6del (n.[c.471_*6del;Ala158ProfsTer23]) c.301_355del (p.Gly102TrpfsTer?) c.-90_-36del (n.-90_-36del) | ClinVar |
| X | g.154031224_154031241dup | CA10558580 | MECP2 | c.592_609dup (p.Thr203_Ser204insArgProLysAlaAlaThr) c.628_645dup (p.Thr215_Ser216insArgProLysAlaAlaThr) c.65+160_65+177dup c.519_536dup (p.Arg179_Gln180insAspProArgArgProArg) c.580_597dup (p.Thr199_Ser200insArgProLysAlaAlaThr) c.483_500dup (p.Arg167_Gln168insAspProArgArgProArg) c.313_330dup (p.Thr110_Ser111insArgProLysAlaAlaThr) c.-78_-61dup (n.-78_-61dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154031226G>A | CA211932 | MECP2 | c.602C>T (p.Ala201Val) c.638C>T (p.Ala213Val) c.65+170C>T c.529C>T (p.Arg177Trp) c.590C>T (p.Ala197Val) c.493C>T (p.Arg165Trp) c.323C>T (p.Ala108Val) c.-68C>T (n.-68C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154031226G>C | CA415173120 | MECP2 | c.602C>G (p.Ala201Gly) c.638C>G (p.Ala213Gly) c.65+170C>G c.529C>G (p.Arg177Gly) c.590C>G (p.Ala197Gly) c.493C>G (p.Arg165Gly) c.323C>G (p.Ala108Gly) c.-68C>G (n.-68C>G) | |
| X | g.154031226G= | CA2466570901 | MECP2 | c.602C= (p.Ala201=) c.638C= (p.Ala213=) c.65+170C= c.529C= (p.Arg177=) c.590C= (p.Ala197=) c.493C= (p.Arg165=) c.323C= (p.Ala108=) c.-68C= (n.-68C=) | |
| X | g.154031226G>T | CA415173123 | MECP2 | c.602C>A (p.Ala201Glu) c.638C>A (p.Ala213Glu) c.65+170C>A c.529C>A (p.Arg177=) c.590C>A (p.Ala197Glu) c.493C>A (p.Arg165=) c.323C>A (p.Ala108Glu) c.-68C>A (n.-68C>A) | |
| X | g.154031227C>A | CA415173127 | MECP2 | c.601G>T (p.Ala201Ser) c.637G>T (p.Ala213Ser) c.65+169G>T c.528G>T (p.Arg176Ser) c.589G>T (p.Ala197Ser) c.492G>T (p.Arg164Ser) c.322G>T (p.Ala108Ser) c.-69G>T (n.-69G>T) | |
| X | g.154031227C>G | CA415173132 | MECP2 | c.601G>C (p.Ala201Pro) c.637G>C (p.Ala213Pro) c.65+169G>C c.528G>C (p.Arg176Ser) c.589G>C (p.Ala197Pro) c.492G>C (p.Arg164Ser) c.322G>C (p.Ala108Pro) c.-69G>C (n.-69G>C) | |
| X | g.154031227C>T | CA415173133 | MECP2 | c.601G>A (p.Ala201Thr) c.637G>A (p.Ala213Thr) c.65+169G>A c.528G>A (p.Arg176=) c.589G>A (p.Ala197Thr) c.492G>A (p.Arg164=) c.322G>A (p.Ala108Thr) c.-69G>A (n.-69G>A) | gnomAD v4 |
| X | g.154031228dup | CA270479 | MECP2 | c.601dup (p.Ala201GlyfsTer?) c.637dup (p.Ala213GlyfsTer?) c.65+169dup c.528dup (p.Arg177AlafsTer?) c.589dup (p.Ala197GlyfsTer?) c.492dup (p.Arg165AlafsTer?) c.322dup (p.Ala108GlyfsTer?) c.-69dup (n.-69dup) | ClinVar dbSNP |
| X | g.154031228C>A | CA415173135 | MECP2 | c.600G>T (p.Lys200Asn) c.636G>T (p.Lys212Asn) c.65+168G>T c.527G>T (p.Arg176Met) c.588G>T (p.Lys196Asn) c.491G>T (p.Arg164Met) c.321G>T (p.Lys107Asn) c.-70G>T (n.-70G>T) | |
| X | g.154031228C>G | CA415173137 | MECP2 | c.600G>C (p.Lys200Asn) c.636G>C (p.Lys212Asn) c.65+168G>C c.527G>C (p.Arg176Thr) c.588G>C (p.Lys196Asn) c.491G>C (p.Arg164Thr) c.321G>C (p.Lys107Asn) c.-70G>C (n.-70G>C) | |
| X | g.154031228C>T | CA415173140 | MECP2 | c.600G>A (p.Lys200=) c.636G>A (p.Lys212=) c.65+168G>A c.527G>A (p.Arg176Lys) c.588G>A (p.Lys196=) c.491G>A (p.Arg164Lys) c.321G>A (p.Lys107=) c.-70G>A (n.-70G>A) | |
| X | g.154031229T>A | CA415173145 | MECP2 | c.599A>T (p.Lys200Met) c.635A>T (p.Lys212Met) c.65+167A>T c.526A>T (p.Arg176Trp) c.587A>T (p.Lys196Met) c.490A>T (p.Arg164Trp) c.320A>T (p.Lys107Met) c.-71A>T (n.-71A>T) | |
| X | g.154031229T>C | CA415173144 | MECP2 | c.599A>G (p.Lys200Arg) c.635A>G (p.Lys212Arg) c.65+167A>G c.526A>G (p.Arg176Gly) c.587A>G (p.Lys196Arg) c.490A>G (p.Arg164Gly) c.320A>G (p.Lys107Arg) c.-71A>G (n.-71A>G) | |
| X | g.154031229T>G | CA415173143 | MECP2 | c.599A>C (p.Lys200Thr) c.635A>C (p.Lys212Thr) c.65+167A>C c.526A>C (p.Arg176=) c.587A>C (p.Lys196Thr) c.490A>C (p.Arg164=) c.320A>C (p.Lys107Thr) c.-71A>C (n.-71A>C) | ClinVar dbSNP gnomAD v4 |
| X | g.154031230T>A | CA270476 | MECP2 | c.598A>T (p.Lys200Ter) c.634A>T (p.Lys212Ter) c.65+166A>T c.525A>T (p.Pro175=) c.586A>T (p.Lys196Ter) c.489A>T (p.Pro163=) c.319A>T (p.Lys107Ter) c.-72A>T (n.-72A>T) | ClinVar dbSNP |
| X | g.154031230T>C | CA415173148 | MECP2 | c.598A>G (p.Lys200Glu) c.634A>G (p.Lys212Glu) c.65+166A>G c.525A>G (p.Pro175=) c.586A>G (p.Lys196Glu) c.489A>G (p.Pro163=) c.319A>G (p.Lys107Glu) c.-72A>G (n.-72A>G) | ClinVar |
| X | g.154031230T>G | CA415173149 | MECP2 | c.598A>C (p.Lys200Gln) c.634A>C (p.Lys212Gln) c.65+166A>C c.525A>C (p.Pro175=) c.586A>C (p.Lys196Gln) c.489A>C (p.Pro163=) c.319A>C (p.Lys107Gln) c.-72A>C (n.-72A>C) | gnomAD v4 |
| X | g.154031230T= | CA2466570902 | MECP2 | c.598A= (p.Lys200=) c.634A= (p.Lys212=) c.65+166A= c.525A= (p.Pro175=) c.586A= (p.Lys196=) c.489A= (p.Pro163=) c.319A= (p.Lys107=) c.-72A= (n.-72A=) | |
| X | g.154031231G>A | CA415173150 | MECP2 | c.597C>T (p.Pro199=) c.633C>T (p.Pro211=) c.65+165C>T c.524C>T (p.Pro175Leu) c.585C>T (p.Pro195=) c.488C>T (p.Pro163Leu) c.318C>T (p.Pro106=) c.-73C>T (n.-73C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.154031231G>C | CA10558582 | MECP2 | c.597C>G (p.Pro199=) c.633C>G (p.Pro211=) c.65+165C>G c.524C>G (p.Pro175Arg) c.585C>G (p.Pro195=) c.488C>G (p.Pro163Arg) c.318C>G (p.Pro106=) c.-73C>G (n.-73C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154031231G= | CA2466570903 | MECP2 | c.597C= (p.Pro199=) c.633C= (p.Pro211=) c.65+165C= c.524C= (p.Pro175=) c.585C= (p.Pro195=) c.488C= (p.Pro163=) c.318C= (p.Pro106=) c.-73C= (n.-73C=) | |
| X | g.154031231G>T | CA415173152 | MECP2 | c.597C>A (p.Pro199=) c.633C>A (p.Pro211=) c.65+165C>A c.524C>A (p.Pro175Gln) c.585C>A (p.Pro195=) c.488C>A (p.Pro163Gln) c.318C>A (p.Pro106=) c.-73C>A (n.-73C>A) | |
| X | g.154031232G>A | CA415173153 | MECP2 | c.596C>T (p.Pro199Leu) c.632C>T (p.Pro211Leu) c.65+164C>T c.523C>T (p.Pro175Ser) c.584C>T (p.Pro195Leu) c.487C>T (p.Pro163Ser) c.317C>T (p.Pro106Leu) c.-74C>T (n.-74C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |