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.154031239_154031242del | CA2695237590 | MECP2 | c.586_589del (p.Thr196ArgfsTer13) c.622_625del (p.Thr208ArgfsTer13) c.65+154_65+157del c.513_516del (p.Pro172GlufsTer?) c.574_577del (p.Thr192ArgfsTer13) c.477_480del (p.Pro160GlufsTer?) c.307_310del (p.Thr103ArgfsTer13) c.-84_-81del (n.-84_-81del) | |
| X | g.154031242T>A | CA415173227 | MECP2 | c.586A>T (p.Thr196Ser) c.622A>T (p.Thr208Ser) c.65+154A>T c.513A>T (p.Ala171=) c.574A>T (p.Thr192Ser) c.477A>T (p.Ala159=) c.307A>T (p.Thr103Ser) c.-84A>T (n.-84A>T) | |
| X | g.154031242T>C | CA415173243 | MECP2 | c.586A>G (p.Thr196Ala) c.622A>G (p.Thr208Ala) c.65+154A>G c.513A>G (p.Ala171=) c.574A>G (p.Thr192Ala) c.477A>G (p.Ala159=) c.307A>G (p.Thr103Ala) c.-84A>G (n.-84A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154031242T>G | CA415173247 | MECP2 | c.586A>C (p.Thr196Pro) c.622A>C (p.Thr208Pro) c.65+154A>C c.513A>C (p.Ala171=) c.574A>C (p.Thr192Pro) c.477A>C (p.Ala159=) c.307A>C (p.Thr103Pro) c.-84A>C (n.-84A>C) | |
| X | g.154031242T= | CA2466570912 | MECP2 | c.586A= (p.Thr196=) c.622A= (p.Thr208=) c.65+154A= c.513A= (p.Ala171=) c.574A= (p.Thr192=) c.477A= (p.Ala159=) c.307A= (p.Thr103=) c.-84A= (n.-84A=) | |
| X | g.154031242dup | CA2695237592 | MECP2 | c.586dup (p.Thr196AsnfsTer?) c.622dup (p.Thr208AsnfsTer?) c.65+154dup c.513dup (p.Pro172ThrfsTer?) c.574dup (p.Thr192AsnfsTer?) c.477dup (p.Pro160ThrfsTer?) c.307dup (p.Thr103AsnfsTer?) c.-84dup (n.-84dup) | |
| X | g.154031243G>A | CA170331 | MECP2 | c.585C>T (p.Gly195=) c.621C>T (p.Gly207=) c.65+153C>T c.512C>T (p.Ala171Val) c.573C>T (p.Gly191=) c.476C>T (p.Ala159Val) c.306C>T (p.Gly102=) c.-85C>T (n.-85C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154031243G>C | CA415173252 | MECP2 | c.585C>G (p.Gly195=) c.621C>G (p.Gly207=) c.65+153C>G c.512C>G (p.Ala171Gly) c.573C>G (p.Gly191=) c.476C>G (p.Ala159Gly) c.306C>G (p.Gly102=) c.-85C>G (n.-85C>G) | |
| X | g.154031243G= | CA2466570913 | MECP2 | c.585C= (p.Gly195=) c.621C= (p.Gly207=) c.65+153C= c.512C= (p.Ala171=) c.573C= (p.Gly191=) c.476C= (p.Ala159=) c.306C= (p.Gly102=) c.-85C= (n.-85C=) | |
| X | g.154031243G>T | CA415173255 | MECP2 | c.585C>A (p.Gly195=) c.621C>A (p.Gly207=) c.65+153C>A c.512C>A (p.Ala171Glu) c.573C>A (p.Gly191=) c.476C>A (p.Ala159Glu) c.306C>A (p.Gly102=) c.-85C>A (n.-85C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.154031244C>A | CA415173262 | MECP2 | c.584G>T (p.Gly195Val) c.620G>T (p.Gly207Val) c.65+152G>T c.511G>T (p.Ala171Ser) c.572G>T (p.Gly191Val) c.475G>T (p.Ala159Ser) c.305G>T (p.Gly102Val) c.-86G>T (n.-86G>T) | |
| X | g.154031244C>G | CA415173260 | MECP2 | c.584G>C (p.Gly195Ala) c.620G>C (p.Gly207Ala) c.65+152G>C c.511G>C (p.Ala171Pro) c.572G>C (p.Gly191Ala) c.475G>C (p.Ala159Pro) c.305G>C (p.Gly102Ala) c.-86G>C (n.-86G>C) | |
| X | g.154031244C>T | CA415173258 | MECP2 | c.584G>A (p.Gly195Asp) c.620G>A (p.Gly207Asp) c.65+152G>A c.511G>A (p.Ala171Thr) c.572G>A (p.Gly191Asp) c.475G>A (p.Ala159Thr) c.305G>A (p.Gly102Asp) c.-86G>A (n.-86G>A) | |
| X | g.154031245C>A | CA415173270 | MECP2 | c.583G>T (p.Gly195Cys) c.619G>T (p.Gly207Cys) c.65+151G>T c.510G>T (p.Ala170=) c.571G>T (p.Gly191Cys) c.474G>T (p.Ala158=) c.304G>T (p.Gly102Cys) c.-87G>T (n.-87G>T) | |
| X | g.154031245C= | CA2466570914 | MECP2 | c.583G= (p.Gly195=) c.619G= (p.Gly207=) c.65+151G= c.510G= (p.Ala170=) c.571G= (p.Gly191=) c.474G= (p.Ala158=) c.304G= (p.Gly102=) c.-87G= (n.-87G=) | |
| X | g.154031245C>G | CA415173279 | MECP2 | c.583G>C (p.Gly195Arg) c.619G>C (p.Gly207Arg) c.65+151G>C c.510G>C (p.Ala170=) c.571G>C (p.Gly191Arg) c.474G>C (p.Ala158=) c.304G>C (p.Gly102Arg) c.-87G>C (n.-87G>C) | |
| X | g.154031245C>T | CA198827 | MECP2 | c.583G>A (p.Gly195Ser) c.619G>A (p.Gly207Ser) c.65+151G>A c.510G>A (p.Ala170=) c.571G>A (p.Gly191Ser) c.474G>A (p.Ala158=) c.304G>A (p.Gly102Ser) c.-87G>A (n.-87G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154031246G>A | CA148316 | MECP2 | c.582C>T (p.Ser194=) c.618C>T (p.Ser206=) c.65+150C>T c.509C>T (p.Ala170Val) c.570C>T (p.Ser190=) c.473C>T (p.Ala158Val) c.303C>T (p.Ser101=) c.-88C>T (n.-88C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154031246G>C | CA415173284 | MECP2 | c.582C>G (p.Ser194Arg) c.618C>G (p.Ser206Arg) c.65+150C>G c.509C>G (p.Ala170Gly) c.570C>G (p.Ser190Arg) c.473C>G (p.Ala158Gly) c.303C>G (p.Ser101Arg) c.-88C>G (n.-88C>G) | gnomAD v4 |
| X | g.154031246G= | CA2466570915 | MECP2 | c.582C= (p.Ser194=) c.618C= (p.Ser206=) c.65+150C= c.509C= (p.Ala170=) c.570C= (p.Ser190=) c.473C= (p.Ala158=) c.303C= (p.Ser101=) c.-88C= (n.-88C=) | |
| X | g.154031246G>T | CA415173287 | MECP2 | c.582C>A (p.Ser194Arg) c.618C>A (p.Ser206Arg) c.65+150C>A c.509C>A (p.Ala170Glu) c.570C>A (p.Ser190Arg) c.473C>A (p.Ala158Glu) c.303C>A (p.Ser101Arg) c.-88C>A (n.-88C>A) | |
| X | g.154031246dup | CA2573159388 | MECP2 | c.582dup (p.Gly195ArgfsTer?) c.618dup (p.Gly207ArgfsTer?) c.65+150dup c.509dup (p.Ala171GlyfsTer?) c.570dup (p.Gly191ArgfsTer?) c.473dup (p.Ala159GlyfsTer?) c.303dup (p.Gly102ArgfsTer?) c.-88dup (n.-88dup) | ClinVar dbSNP |
| X | g.154031247C>A | CA415173290 | MECP2 | c.581G>T (p.Ser194Ile) c.617G>T (p.Ser206Ile) c.65+149G>T c.508G>T (p.Ala170Ser) c.569G>T (p.Ser190Ile) c.472G>T (p.Ala158Ser) c.302G>T (p.Ser101Ile) c.-89G>T (n.-89G>T) | |
| X | g.154031247C>G | CA415173292 | MECP2 | c.581G>C (p.Ser194Thr) c.617G>C (p.Ser206Thr) c.65+149G>C c.508G>C (p.Ala170Pro) c.569G>C (p.Ser190Thr) c.472G>C (p.Ala158Pro) c.302G>C (p.Ser101Thr) c.-89G>C (n.-89G>C) |