| 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.154030712_154031218del | CA274597 | MECP2 | c.616_1122del (p.Gly206_Glu374del) c.652_1158del (p.Gly218_Glu386del) c.543_*494del (n.[c.543_*494del;Arg181SerfsTer?]) c.507_*494del (n.[c.507_*494del;Arg169SerfsTer?]) c.337_843del (p.Gly113_Glu281del) c.-54_453del | ClinVar dbSNP |
| 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) | |
| X | g.154031215_154031216del | CA915952030 | MECP2 | c.614_615del (p.Glu205GlyfsTer30) c.650_651del (p.Glu217GlyfsTer30) c.65+182_65+183del c.541_542del (p.Arg181GlyfsTer?) c.602_603del (p.Glu201GlyfsTer30) c.505_506del (p.Arg169GlyfsTer?) c.335_336del (p.Glu112GlyfsTer30) c.-56_-55del (n.-56_-55del) | dbSNP |
| X | g.154031216T>A | CA415173038 | MECP2 | c.612A>T (p.Ser204=) c.648A>T (p.Ser216=) c.65+180A>T c.539A>T (p.Gln180Leu) c.600A>T (p.Ser200=) c.503A>T (p.Gln168Leu) c.333A>T (p.Ser111=) c.-58A>T (n.-58A>T) | |
| X | g.154031216T>C | CA415173036 | MECP2 | c.612A>G (p.Ser204=) c.648A>G (p.Ser216=) c.65+180A>G c.539A>G (p.Gln180Arg) c.600A>G (p.Ser200=) c.503A>G (p.Gln168Arg) c.333A>G (p.Ser111=) c.-58A>G (n.-58A>G) | |
| X | g.154031216T>G | CA415173041 | MECP2 | c.612A>C (p.Ser204=) c.648A>C (p.Ser216=) c.65+180A>C c.539A>C (p.Gln180Pro) c.600A>C (p.Ser200=) c.503A>C (p.Gln168Pro) c.333A>C (p.Ser111=) c.-58A>C (n.-58A>C) | dbSNP |
| X | g.154031216T= | CA2466570893 | MECP2 | c.612A= (p.Ser204=) c.648A= (p.Ser216=) c.65+180A= c.539A= (p.Gln180=) c.600A= (p.Ser200=) c.503A= (p.Gln168=) c.333A= (p.Ser111=) c.-58A= (n.-58A=) | |
| X | g.154031216dup | CA658799899 | MECP2 | c.612dup (p.Glu205ArgfsTer?) c.648dup (p.Glu217ArgfsTer?) c.65+180dup c.539dup (p.Arg181GlufsTer?) c.600dup (p.Glu201ArgfsTer?) c.503dup (p.Arg169GlufsTer?) c.333dup (p.Glu112ArgfsTer?) c.-58dup (n.-58dup) | ClinVar dbSNP |
| X | g.154031216_154031217delinsCT | CA270481 | MECP2 | c.611_612delinsAG (p.Ser204Ter) c.647_648delinsAG (p.Ser216Ter) c.65+179_65+180delinsAG c.538_539delinsAG (p.Gln180Arg) c.599_600delinsAG (p.Ser200Ter) c.502_503delinsAG (p.Gln168Arg) c.332_333delinsAG (p.Ser111Ter) c.-59_-58delinsAG (n.-59_-58delinsAG) | ClinVar dbSNP |
| X | g.154031216_154031217delinsTG | CA2466570892 | MECP2 | c.611_612delinsCA (p.Ser204=) c.647_648delinsCA (p.Ser216=) c.65+179_65+180delinsCA c.538_539delinsCA (p.Gln180=) c.599_600delinsCA (p.Ser200=) c.502_503delinsCA (p.Gln168=) c.332_333delinsCA (p.Ser111=) c.-59_-58delinsCA (n.-59_-58delinsCA) | |
| X | g.154031217G>A | CA415173045 | MECP2 | c.611C>T (p.Ser204Leu) c.647C>T (p.Ser216Leu) c.65+179C>T c.538C>T (p.Gln180Ter) c.599C>T (p.Ser200Leu) c.502C>T (p.Gln168Ter) c.332C>T (p.Ser111Leu) c.-59C>T (n.-59C>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154031217G>C | CA202772 | MECP2 | c.611C>G (p.Ser204Ter) c.647C>G (p.Ser216Ter) c.65+179C>G c.538C>G (p.Gln180Glu) c.599C>G (p.Ser200Ter) c.502C>G (p.Gln168Glu) c.332C>G (p.Ser111Ter) c.-59C>G (n.-59C>G) | ClinVar dbSNP |
| X | g.154031217G= | CA2466570894 | MECP2 | c.611C= (p.Ser204=) c.647C= (p.Ser216=) c.65+179C= c.538C= (p.Gln180=) c.599C= (p.Ser200=) c.502C= (p.Gln168=) c.332C= (p.Ser111=) c.-59C= (n.-59C=) | |
| X | g.154031217G>T | CA415173049 | MECP2 | c.611C>A (p.Ser204Ter) c.647C>A (p.Ser216Ter) c.65+179C>A c.538C>A (p.Gln180Lys) c.599C>A (p.Ser200Ter) c.502C>A (p.Gln168Lys) c.332C>A (p.Ser111Ter) c.-59C>A (n.-59C>A) | |
| X | g.154031217dup | CA2695237701 | MECP2 | c.611dup (p.Glu205ArgfsTer?) c.647dup (p.Glu217ArgfsTer?) c.65+179dup c.538dup (p.Gln180ProfsTer?) c.599dup (p.Glu201ArgfsTer?) c.502dup (p.Gln168ProfsTer?) c.332dup (p.Glu112ArgfsTer?) c.-59dup (n.-59dup) | |
| X | g.154031218A= | CA2466570895 | MECP2 | c.610T= (p.Ser204=) c.646T= (p.Ser216=) c.65+178T= c.537T= (p.Arg179=) c.598T= (p.Ser200=) c.501T= (p.Arg167=) c.331T= (p.Ser111=) c.-60T= (n.-60T=) | |
| X | g.154031218A>C | CA415173052 | MECP2 | c.610T>G (p.Ser204Ala) c.646T>G (p.Ser216Ala) c.65+178T>G c.537T>G (p.Arg179=) c.598T>G (p.Ser200Ala) c.501T>G (p.Arg167=) c.331T>G (p.Ser111Ala) c.-60T>G (n.-60T>G) | |
| X | g.154031218A>G | CA415173053 | MECP2 | c.610T>C (p.Ser204Pro) c.646T>C (p.Ser216Pro) c.65+178T>C c.537T>C (p.Arg179=) c.598T>C (p.Ser200Pro) c.501T>C (p.Arg167=) c.331T>C (p.Ser111Pro) c.-60T>C (n.-60T>C) | |
| X | g.154031218A>T | CA415173056 | MECP2 | c.610T>A (p.Ser204Thr) c.646T>A (p.Ser216Thr) c.65+178T>A c.537T>A (p.Arg179=) c.598T>A (p.Ser200Thr) c.501T>A (p.Arg167=) c.331T>A (p.Ser111Thr) c.-60T>A (n.-60T>A) | |
| X | g.154031219C>A | CA415173059 | MECP2 | c.609G>T (p.Thr203=) c.645G>T (p.Thr215=) c.65+177G>T c.536G>T (p.Arg179Leu) c.597G>T (p.Thr199=) c.500G>T (p.Arg167Leu) c.330G>T (p.Thr110=) c.-61G>T (n.-61G>T) | |
| X | g.154031219C= | CA2466570896 | MECP2 | c.609G= (p.Thr203=) c.645G= (p.Thr215=) c.65+177G= c.536G= (p.Arg179=) c.597G= (p.Thr199=) c.500G= (p.Arg167=) c.330G= (p.Thr110=) c.-61G= (n.-61G=) | |
| X | g.154031219C>G | CA415173062 | MECP2 | c.609G>C (p.Thr203=) c.645G>C (p.Thr215=) c.65+177G>C c.536G>C (p.Arg179Pro) c.597G>C (p.Thr199=) c.500G>C (p.Arg167Pro) c.330G>C (p.Thr110=) c.-61G>C (n.-61G>C) | |
| X | g.154031219C>T | CA170343 | MECP2 | c.609G>A (p.Thr203=) c.645G>A (p.Thr215=) c.65+177G>A c.536G>A (p.Arg179His) c.597G>A (p.Thr199=) c.500G>A (p.Arg167His) c.330G>A (p.Thr110=) c.-61G>A (n.-61G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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.154031219_154031220insT | CA270480 | MECP2 | c.608_609insA (p.Ser204ValfsTer?) c.644_645insA (p.Ser216ValfsTer?) c.65+176_65+177insA c.535_536insA (p.Arg179GlnfsTer?) c.596_597insA (p.Ser200ValfsTer?) c.499_500insA (p.Arg167GlnfsTer?) c.329_330insA (p.Ser111ValfsTer?) c.-62_-61insA (n.-62_-61insA) | ClinVar dbSNP |