Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154030255_154037279delinsCACAAAGTGCA274580MECP2c.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
Xg.154030367_154031450delCA274586MECP2c.378_1461del (p.Pro127PhefsTer24)
c.414_1497del (p.Pro139PhefsTer24)
c.378_1457del
c.378_*833del
c.99_1182del (p.Pro34PhefsTer24)
c.-183_792del
ClinVar
Xg.154030546_154032241delCA2695202122MECP2c.343_1282del
c.379_1318del
c.343_*654del
c.64_1003del
c.-218_613del
Xg.154030587_154034485delCA1139667874MECP2c.27-1928_1241del
c.63-1928_1277del
c.27-1928_*613del
c.-253-1928_962del
c.-534-1928_572del
ClinVar
Xg.154030593_154038357delCA2499226465MECP2c.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
Xg.154030617_154032283delCA2573159384MECP2c.301_1211del
c.337_1247del
c.337_*583del
c.301_*583del
c.22_932del
c.-260_542del
ClinVar
Xg.154030623_154032653delCA274584MECP2c.27-94_1207del
c.63-94_1243del
c.63-94_*579del
c.27-94_*579del
c.-253-94_928del
c.-534-94_538del
ClinVar
Xg.154030638_154038772delCA274583MECP2c.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
Xg.154030638_154031340delinsTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCA2466570378MECP2c.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
Xg.154030638_154038583delinsACCA274582MECP2c.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
Xg.154030640_154031341delCA274591MECP2c.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
Xg.154030639_154031446delCA274587MECP2c.382_1189del (p.Gln128ArgfsTer12)
c.418_1225del (p.Gln140ArgfsTer12)
c.418_*561del
c.382_*561del
c.103_910del (p.Gln35ArgfsTer12)
c.-179_520del
ClinVar
Xg.154030646_154036487delCA274579MECP2c.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
Xg.154030646_154032241delCA915952020MECP2c.343_1182del
c.379_1218del
c.379_*554del
c.343_*554del
c.64_903del
c.-218_513del
Xg.154030660_154031387delCA2573334949MECP2c.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
Xg.154030663_154037047delCA916084238MECP2c.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
Xg.154030665_154031373delinsACGCACA2580101841MECP2c.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
Xg.154030672_154039641delCA1139667883MECP2c.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
Xg.154030672_154031421delCA274588MECP2c.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
Xg.154030690_154038335delCA915952024MECP2c.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
Xg.154030700_154032236delCA915952025MECP2c.348_1128del
c.384_1164del
c.384_*500del
c.348_*500del
c.69_849del
c.-213_459del
Xg.154030753_154031305delinsCGCA198826MECP2c.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
Xg.154030777_154032630delCA915952026MECP2c.27-73_1051del
c.63-73_1087del
c.63-73_*423del
c.27-73_*423del
c.-253-73_772del
c.-534-73_382del
ClinVar
Xg.154030926_154038331delinsTGACATCAGTCCGGGCACCA274581MECP2c.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
Xg.154031276A>CCA415173670MECP2c.552T>G (p.Thr184=)
c.588T>G (p.Thr196=)
c.65+120T>G
c.479T>G (p.Leu160Arg)
n.2900T>G
c.540T>G (p.Thr180=)
c.443T>G (p.Leu148Arg)
c.273T>G (p.Thr91=)
c.-118T>G (n.-118T>G)
Xg.154031276A>GCA415173672MECP2c.552T>C (p.Thr184=)
c.588T>C (p.Thr196=)
c.65+120T>C
c.479T>C (p.Leu160Pro)
n.2900T>C
c.540T>C (p.Thr180=)
c.443T>C (p.Leu148Pro)
c.273T>C (p.Thr91=)
c.-118T>C (n.-118T>C)
gnomAD v4
Xg.154031276A>TCA415173677MECP2c.552T>A (p.Thr184=)
c.588T>A (p.Thr196=)
c.65+120T>A
c.479T>A (p.Leu160Gln)
n.2900T>A
c.540T>A (p.Thr180=)
c.443T>A (p.Leu148Gln)
c.273T>A (p.Thr91=)
c.-118T>A (n.-118T>A)
Xg.154031277G>ACA415173678MECP2c.551C>T (p.Thr184Ile)
c.587C>T (p.Thr196Ile)
c.65+119C>T
c.478C>T (p.Leu160=)
n.2899C>T
c.539C>T (p.Thr180Ile)
c.442C>T (p.Leu148=)
c.272C>T (p.Thr91Ile)
c.-119C>T (n.-119C>T)
Xg.154031277G>CCA10558593MECP2c.551C>G (p.Thr184Ser)
c.587C>G (p.Thr196Ser)
c.65+119C>G
c.478C>G (p.Leu160Val)
n.2899C>G
c.539C>G (p.Thr180Ser)
c.442C>G (p.Leu148Val)
c.272C>G (p.Thr91Ser)
c.-119C>G (n.-119C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031277G=CA2466570933MECP2c.551C= (p.Thr184=)
c.587C= (p.Thr196=)
c.65+119C=
c.478C= (p.Leu160=)
n.2899C=
c.539C= (p.Thr180=)
c.442C= (p.Leu148=)
c.272C= (p.Thr91=)
c.-119C= (n.-119C=)
Xg.154031277G>TCA415173687MECP2c.551C>A (p.Thr184Asn)
c.587C>A (p.Thr196Asn)
c.65+119C>A
c.478C>A (p.Leu160Met)
n.2899C>A
c.539C>A (p.Thr180Asn)
c.442C>A (p.Leu148Met)
c.272C>A (p.Thr91Asn)
c.-119C>A (n.-119C>A)
Xg.154031278T>ACA415173706MECP2c.550A>T (p.Thr184Ser)
c.586A>T (p.Thr196Ser)
c.65+118A>T
c.477A>T (p.Glu159Asp)
n.2898A>T
c.538A>T (p.Thr180Ser)
c.441A>T (p.Glu147Asp)
c.271A>T (p.Thr91Ser)
c.-120A>T (n.-120A>T)
Xg.154031278T>CCA415173700MECP2c.550A>G (p.Thr184Ala)
c.586A>G (p.Thr196Ala)
c.65+118A>G
c.477A>G (p.Glu159=)
n.2898A>G
c.538A>G (p.Thr180Ala)
c.441A>G (p.Glu147=)
c.271A>G (p.Thr91Ala)
c.-120A>G (n.-120A>G)
dbSNP
Xg.154031278T>GCA415173702MECP2c.550A>C (p.Thr184Pro)
c.586A>C (p.Thr196Pro)
c.65+118A>C
c.477A>C (p.Glu159Asp)
n.2898A>C
c.538A>C (p.Thr180Pro)
c.441A>C (p.Glu147Asp)
c.271A>C (p.Thr91Pro)
c.-120A>C (n.-120A>C)
COSMIC
Xg.154031278T=CA2466570934MECP2c.550A= (p.Thr184=)
c.586A= (p.Thr196=)
c.65+118A=
c.477A= (p.Glu159=)
n.2898A=
c.538A= (p.Thr180=)
c.441A= (p.Glu147=)
c.271A= (p.Thr91=)
c.-120A= (n.-120A=)
Xg.154031279T>ACA415173708MECP2c.549A>T (p.Gly183=)
c.585A>T (p.Gly195=)
c.65+117A>T
c.476A>T (p.Glu159Val)
n.2897A>T
c.537A>T (p.Gly179=)
c.440A>T (p.Glu147Val)
c.270A>T (p.Gly90=)
c.-121A>T (n.-121A>T)
Xg.154031279T>CCA415173711MECP2c.549A>G (p.Gly183=)
c.585A>G (p.Gly195=)
c.65+117A>G
c.476A>G (p.Glu159Gly)
n.2897A>G
c.537A>G (p.Gly179=)
c.440A>G (p.Glu147Gly)
c.270A>G (p.Gly90=)
c.-121A>G (n.-121A>G)
Xg.154031279T>GCA415173719MECP2c.549A>C (p.Gly183=)
c.585A>C (p.Gly195=)
c.65+117A>C
c.476A>C (p.Glu159Ala)
n.2897A>C
c.537A>C (p.Gly179=)
c.440A>C (p.Glu147Ala)
c.270A>C (p.Gly90=)
c.-121A>C (n.-121A>C)
Xg.154031280C>ACA415173721MECP2c.548G>T (p.Gly183Val)
c.584G>T (p.Gly195Val)
c.65+116G>T
c.475G>T (p.Glu159Ter)
n.2896G>T
c.536G>T (p.Gly179Val)
c.439G>T (p.Glu147Ter)
c.269G>T (p.Gly90Val)
c.-122G>T (n.-122G>T)
Xg.154031280C>GCA415173725MECP2c.548G>C (p.Gly183Ala)
c.584G>C (p.Gly195Ala)
c.65+116G>C
c.475G>C (p.Glu159Gln)
n.2896G>C
c.536G>C (p.Gly179Ala)
c.439G>C (p.Glu147Gln)
c.269G>C (p.Gly90Ala)
c.-122G>C (n.-122G>C)
Xg.154031280C>TCA415173727MECP2c.548G>A (p.Gly183Glu)
c.584G>A (p.Gly195Glu)
c.65+116G>A
c.475G>A (p.Glu159Lys)
n.2896G>A
c.536G>A (p.Gly179Glu)
c.439G>A (p.Glu147Lys)
c.269G>A (p.Gly90Glu)
c.-122G>A (n.-122G>A)
Xg.154031281C>ACA415173730MECP2c.547G>T (p.Gly183Ter)
c.583G>T (p.Gly195Ter)
c.65+115G>T
c.474G>T (p.Gln158His)
n.2895G>T
c.535G>T (p.Gly179Ter)
c.438G>T (p.Gln146His)
c.268G>T (p.Gly90Ter)
c.-123G>T (n.-123G>T)
Xg.154031281C=CA2466570935MECP2c.547G= (p.Gly183=)
c.583G= (p.Gly195=)
c.65+115G=
c.474G= (p.Gln158=)
n.2895G=
c.535G= (p.Gly179=)
c.438G= (p.Gln146=)
c.268G= (p.Gly90=)
c.-123G= (n.-123G=)
Xg.154031281C>GCA170325MECP2c.547G>C (p.Gly183Arg)
c.583G>C (p.Gly195Arg)
c.65+115G>C
c.474G>C (p.Gln158His)
n.2895G>C
c.535G>C (p.Gly179Arg)
c.438G>C (p.Gln146His)
c.268G>C (p.Gly90Arg)
c.-123G>C (n.-123G>C)
ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.154031281C>TCA415173745MECP2c.547G>A (p.Gly183Arg)
c.583G>A (p.Gly195Arg)
c.65+115G>A
c.474G>A (p.Gln158=)
n.2895G>A
c.535G>A (p.Gly179Arg)
c.438G>A (p.Gln146=)
c.268G>A (p.Gly90Arg)
c.-123G>A (n.-123G>A)
Xg.154031282T>ACA415173748MECP2c.546A>T (p.Pro182=)
c.582A>T (p.Pro194=)
c.65+114A>T
c.473A>T (p.Gln158Leu)
n.2894A>T
c.534A>T (p.Pro178=)
c.437A>T (p.Gln146Leu)
c.267A>T (p.Pro89=)
c.-124A>T (n.-124A>T)
Xg.154031282T>CCA415173749MECP2c.546A>G (p.Pro182=)
c.582A>G (p.Pro194=)
c.65+114A>G
c.473A>G (p.Gln158Arg)
n.2894A>G
c.534A>G (p.Pro178=)
c.437A>G (p.Gln146Arg)
c.267A>G (p.Pro89=)
c.-124A>G (n.-124A>G)
ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.154031282T>GCA415173750MECP2c.546A>C (p.Pro182=)
c.582A>C (p.Pro194=)
c.65+114A>C
c.473A>C (p.Gln158Pro)
n.2894A>C
c.534A>C (p.Pro178=)
c.437A>C (p.Gln146Pro)
c.267A>C (p.Pro89=)
c.-124A>C (n.-124A>C)
Xg.154031282T=CA2466570936MECP2c.546A= (p.Pro182=)
c.582A= (p.Pro194=)
c.65+114A=
c.473A= (p.Gln158=)
n.2894A=
c.534A= (p.Pro178=)
c.437A= (p.Gln146=)
c.267A= (p.Pro89=)
c.-124A= (n.-124A=)
Xg.154031283G>ACA415173752MECP2c.545C>T (p.Pro182Leu)
c.581C>T (p.Pro194Leu)
c.65+113C>T
c.472C>T (p.Gln158Ter)
n.2893C>T
c.533C>T (p.Pro178Leu)
c.436C>T (p.Gln146Ter)
c.266C>T (p.Pro89Leu)
c.-125C>T (n.-125C>T)
gnomAD v4
Xg.154031283G>CCA415173757MECP2c.545C>G (p.Pro182Arg)
c.581C>G (p.Pro194Arg)
c.65+113C>G
c.472C>G (p.Gln158Glu)
n.2893C>G
c.533C>G (p.Pro178Arg)
c.436C>G (p.Gln146Glu)
c.266C>G (p.Pro89Arg)
c.-125C>G (n.-125C>G)
Xg.154031283G>TCA415173756MECP2c.545C>A (p.Pro182Gln)
c.581C>A (p.Pro194Gln)
c.65+113C>A
c.472C>A (p.Gln158Lys)
n.2893C>A
c.533C>A (p.Pro178Gln)
c.436C>A (p.Gln146Lys)
c.266C>A (p.Pro89Gln)
c.-125C>A (n.-125C>A)
gnomAD v4
Xg.154031283_154031285delinsGGACA2466570937MECP2c.543_545delinsTCC (p.Ala181=)
c.579_581delinsTCC (p.Ala193=)
c.65+111_65+113delinsTCC
c.470_472delinsTCC (p.Leu157=)
n.2891_2893delinsTCC
c.531_533delinsTCC (p.Ala177=)
c.434_436delinsTCC (p.Leu145=)
c.264_266delinsTCC (p.Ala88=)
c.-127_-125delinsTCC (n.-127_-125delinsTCC)
Xg.154031284G>ACA415173760MECP2c.544C>T (p.Pro182Ser)
c.580C>T (p.Pro194Ser)
c.65+112C>T
c.471C>T (p.Leu157=)
n.2892C>T
c.532C>T (p.Pro178Ser)
c.435C>T (p.Leu145=)
c.265C>T (p.Pro89Ser)
c.-126C>T (n.-126C>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.154031284G>CCA415173766MECP2c.544C>G (p.Pro182Ala)
c.580C>G (p.Pro194Ala)
c.65+112C>G
c.471C>G (p.Leu157=)
n.2892C>G
c.532C>G (p.Pro178Ala)
c.435C>G (p.Leu145=)
c.265C>G (p.Pro89Ala)
c.-126C>G (n.-126C>G)
gnomAD v4
Xg.154031284G=CA2466570938MECP2c.544C= (p.Pro182=)
c.580C= (p.Pro194=)
c.65+112C=
c.471C= (p.Leu157=)
n.2892C=
c.532C= (p.Pro178=)
c.435C= (p.Leu145=)
c.265C= (p.Pro89=)
c.-126C= (n.-126C=)
Xg.154031284G>TCA415173771MECP2c.544C>A (p.Pro182Thr)
c.580C>A (p.Pro194Thr)
c.65+112C>A
c.471C>A (p.Leu157=)
n.2892C>A
c.532C>A (p.Pro178Thr)
c.435C>A (p.Leu145=)
c.265C>A (p.Pro89Thr)
c.-126C>A (n.-126C>A)
Xg.154031285_154031286delCA270465MECP2c.543_544del (p.Pro182ArgfsTer?)
c.579_580del (p.Pro194ArgfsTer?)
c.65+111_65+112del
c.470_471del (p.Leu157ProfsTer?)
n.2891_2892del
c.531_532del (p.Pro178ArgfsTer?)
c.434_435del (p.Leu145ProfsTer?)
c.264_265del (p.Pro89ArgfsTer?)
c.-127_-126del (n.-127_-126del)
ClinVar dbSNP
Xg.154031285A=CA2466570939MECP2c.543T= (p.Ala181=)
c.579T= (p.Ala193=)
c.65+111T=
c.470T= (p.Leu157=)
n.2891T=
c.531T= (p.Ala177=)
c.434T= (p.Leu145=)
c.264T= (p.Ala88=)
c.-127T= (n.-127T=)
Xg.154031285A>CCA415173775MECP2c.543T>G (p.Ala181=)
c.579T>G (p.Ala193=)
c.65+111T>G
c.470T>G (p.Leu157Arg)
n.2891T>G
c.531T>G (p.Ala177=)
c.434T>G (p.Leu145Arg)
c.264T>G (p.Ala88=)
c.-127T>G (n.-127T>G)
Xg.154031285A>GCA415173778MECP2c.543T>C (p.Ala181=)
c.579T>C (p.Ala193=)
c.65+111T>C
c.470T>C (p.Leu157Pro)
n.2891T>C
c.531T>C (p.Ala177=)
c.434T>C (p.Leu145Pro)
c.264T>C (p.Ala88=)
c.-127T>C (n.-127T>C)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031285A>TCA415173781MECP2c.543T>A (p.Ala181=)
c.579T>A (p.Ala193=)
c.65+111T>A
c.470T>A (p.Leu157His)
n.2891T>A
c.531T>A (p.Ala177=)
c.434T>A (p.Leu145His)
c.264T>A (p.Ala88=)
c.-127T>A (n.-127T>A)
Xg.154031286G>ACA170322MECP2c.542C>T (p.Ala181Val)
c.578C>T (p.Ala193Val)
c.65+110C>T
c.469C>T (p.Leu157Phe)
n.2890C>T
c.530C>T (p.Ala177Val)
c.433C>T (p.Leu145Phe)
c.263C>T (p.Ala88Val)
c.-128C>T (n.-128C>T)
ClinVar dbSNP gnomAD v4
Xg.154031286G>CCA415173787MECP2c.542C>G (p.Ala181Gly)
c.578C>G (p.Ala193Gly)
c.65+110C>G
c.469C>G (p.Leu157Val)
n.2890C>G
c.530C>G (p.Ala177Gly)
c.433C>G (p.Leu145Val)
c.263C>G (p.Ala88Gly)
c.-128C>G (n.-128C>G)
ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.154031286G=CA2466570940MECP2c.542C= (p.Ala181=)
c.578C= (p.Ala193=)
c.65+110C=
c.469C= (p.Leu157=)
n.2890C=
c.530C= (p.Ala177=)
c.433C= (p.Leu145=)
c.263C= (p.Ala88=)
c.-128C= (n.-128C=)
Xg.154031286G>TCA415173788MECP2c.542C>A (p.Ala181Asp)
c.578C>A (p.Ala193Asp)
c.65+110C>A
c.469C>A (p.Leu157Ile)
n.2890C>A
c.530C>A (p.Ala177Asp)
c.433C>A (p.Leu145Ile)
c.263C>A (p.Ala88Asp)
c.-128C>A (n.-128C>A)
Xg.154031287C>ACA415173789MECP2c.541G>T (p.Ala181Ser)
c.577G>T (p.Ala193Ser)
c.65+109G>T
c.469-1G>T (n.469-1G>T)
n.2889G>T
c.529G>T (p.Ala177Ser)
c.433-1G>T (n.433-1G>T)
c.262G>T (p.Ala88Ser)
c.-128-1G>T (n.-128-1G>T)
ClinVar dbSNP
Xg.154031287C>GCA415173790MECP2c.541G>C (p.Ala181Pro)
c.577G>C (p.Ala193Pro)
c.65+109G>C
c.469-1G>C (n.469-1G>C)
n.2889G>C
c.529G>C (p.Ala177Pro)
c.433-1G>C (n.433-1G>C)
c.262G>C (p.Ala88Pro)
c.-128-1G>C (n.-128-1G>C)
Xg.154031287C>TCA415173791MECP2c.541G>A (p.Ala181Thr)
c.577G>A (p.Ala193Thr)
c.65+109G>A
c.469-1G>A (n.469-1G>A)
n.2889G>A
c.529G>A (p.Ala177Thr)
c.433-1G>A (n.433-1G>A)
c.262G>A (p.Ala88Thr)
c.-128-1G>A (n.-128-1G>A)
Xg.154031287_154031296delinsCTTTGGGAGACA2466570941MECP2c.532_541delinsTCTCCCAAAG (p.Ser178=)
c.568_577delinsTCTCCCAAAG (p.Ser190=)
c.65+100_65+109delinsTCTCCCAAAG
c.469-10_469-1delinsTCTCCCAAAG (n.469-10_469-1delinsTCTCCCAAAG)
n.2880_2889delinsTCTCCCAAAG
c.520_529delinsTCTCCCAAAG (p.Ser174=)
c.433-10_433-1delinsTCTCCCAAAG (n.433-10_433-1delinsTCTCCCAAAG)
c.253_262delinsTCTCCCAAAG (p.Ser85=)
c.-128-10_-128-1delinsTCTCCCAAAG (n.-128-10_-128-1delinsTCTCCCAAAG)
Xg.154031288T>ACA415173792MECP2c.540A>T (p.Lys180Asn)
c.576A>T (p.Lys192Asn)
c.65+108A>T
c.469-2A>T (n.469-2A>T)
n.2888A>T
c.528A>T (p.Lys176Asn)
c.433-2A>T (n.433-2A>T)
c.261A>T (p.Lys87Asn)
c.-128-2A>T (n.-128-2A>T)
Xg.154031288T>CCA415173797MECP2c.540A>G (p.Lys180=)
c.576A>G (p.Lys192=)
c.65+108A>G
c.469-2A>G (n.469-2A>G)
n.2888A>G
c.528A>G (p.Lys176=)
c.433-2A>G (n.433-2A>G)
c.261A>G (p.Lys87=)
c.-128-2A>G (n.-128-2A>G)
Xg.154031288T>GCA415173793MECP2c.540A>C (p.Lys180Asn)
c.576A>C (p.Lys192Asn)
c.65+108A>C
c.469-2A>C (n.469-2A>C)
n.2888A>C
c.528A>C (p.Lys176Asn)
c.433-2A>C (n.433-2A>C)
c.261A>C (p.Lys87Asn)
c.-128-2A>C (n.-128-2A>C)
Xg.154031294_154031302delCA1138554651MECP2c.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
Xg.154031289T>ACA415173801MECP2c.539A>T (p.Lys180Ile)
c.575A>T (p.Lys192Ile)
c.65+107A>T
c.469-3A>T (n.469-3A>T)
n.2887A>T
c.527A>T (p.Lys176Ile)
c.433-3A>T (n.433-3A>T)
c.260A>T (p.Lys87Ile)
c.-128-3A>T (n.-128-3A>T)
Xg.154031289T>CCA415173803MECP2c.539A>G (p.Lys180Arg)
c.575A>G (p.Lys192Arg)
c.65+107A>G
c.469-3A>G (n.469-3A>G)
n.2887A>G
c.527A>G (p.Lys176Arg)
c.433-3A>G (n.433-3A>G)
c.260A>G (p.Lys87Arg)
c.-128-3A>G (n.-128-3A>G)
Xg.154031289T>GCA415173807MECP2c.539A>C (p.Lys180Thr)
c.575A>C (p.Lys192Thr)
c.65+107A>C
c.469-3A>C (n.469-3A>C)
n.2887A>C
c.527A>C (p.Lys176Thr)
c.433-3A>C (n.433-3A>C)
c.260A>C (p.Lys87Thr)
c.-128-3A>C (n.-128-3A>C)
Xg.154031290T>ACA270462MECP2c.538A>T (p.Lys180Ter)
c.574A>T (p.Lys192Ter)
c.65+106A>T
c.469-4A>T (n.469-4A>T)
n.2886A>T
c.526A>T (p.Lys176Ter)
c.433-4A>T (n.433-4A>T)
c.259A>T (p.Lys87Ter)
c.-128-4A>T (n.-128-4A>T)
ClinVar dbSNP
Xg.154031290T>CCA415173808MECP2c.538A>G (p.Lys180Glu)
c.574A>G (p.Lys192Glu)
c.65+106A>G
c.469-4A>G (n.469-4A>G)
n.2886A>G
c.526A>G (p.Lys176Glu)
c.433-4A>G (n.433-4A>G)
c.259A>G (p.Lys87Glu)
c.-128-4A>G (n.-128-4A>G)
gnomAD v4
Xg.154031290T>GCA415173809MECP2c.538A>C (p.Lys180Gln)
c.574A>C (p.Lys192Gln)
c.65+106A>C
c.469-4A>C (n.469-4A>C)
n.2886A>C
c.526A>C (p.Lys176Gln)
c.433-4A>C (n.433-4A>C)
c.259A>C (p.Lys87Gln)
c.-128-4A>C (n.-128-4A>C)
Xg.154031290T=CA2466570942MECP2c.538A= (p.Lys180=)
c.574A= (p.Lys192=)
c.65+106A=
c.469-4A= (n.469-4A=)
n.2886A=
c.526A= (p.Lys176=)
c.433-4A= (n.433-4A=)
c.259A= (p.Lys87=)
c.-128-4A= (n.-128-4A=)
Xg.154031290_154031291insACA2573159389MECP2c.537_538insT (p.Lys180Ter)
c.573_574insT (p.Lys192Ter)
c.65+105_65+106insT
c.469-5_469-4insT (n.469-5_469-4insT)
n.2885_2886insT
c.525_526insT (p.Lys176Ter)
c.433-5_433-4insT (n.433-5_433-4insT)
c.258_259insT (p.Lys87Ter)
c.-128-5_-128-4insT (n.-128-5_-128-4insT)
ClinVar dbSNP
Xg.154031291G>ACA519705695MECP2c.537C>T (p.Pro179=)
c.573C>T (p.Pro191=)
c.65+105C>T
c.469-5C>T (n.469-5C>T)
n.2885C>T
c.525C>T (p.Pro175=)
c.433-5C>T (n.433-5C>T)
c.258C>T (p.Pro86=)
c.-128-5C>T (n.-128-5C>T)
gnomAD v4
Xg.154031291G>CCA10558594MECP2c.537C>G (p.Pro179=)
c.573C>G (p.Pro191=)
c.65+105C>G
c.469-5C>G (n.469-5C>G)
n.2885C>G
c.525C>G (p.Pro175=)
c.433-5C>G (n.433-5C>G)
c.258C>G (p.Pro86=)
c.-128-5C>G (n.-128-5C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154031291G=CA2466570943MECP2c.537C= (p.Pro179=)
c.573C= (p.Pro191=)
c.65+105C=
c.469-5C= (n.469-5C=)
n.2885C=
c.525C= (p.Pro175=)
c.433-5C= (n.433-5C=)
c.258C= (p.Pro86=)
c.-128-5C= (n.-128-5C=)
Xg.154031291G>TCA519705696MECP2c.537C>A (p.Pro179=)
c.573C>A (p.Pro191=)
c.65+105C>A
c.469-5C>A (n.469-5C>A)
n.2885C>A
c.525C>A (p.Pro175=)
c.433-5C>A (n.433-5C>A)
c.258C>A (p.Pro86=)
c.-128-5C>A (n.-128-5C>A)
COSMIC
Xg.154031292G>ACA415173812MECP2c.536C>T (p.Pro179Leu)
c.572C>T (p.Pro191Leu)
c.65+104C>T
c.469-6C>T (n.469-6C>T)
n.2884C>T
c.524C>T (p.Pro175Leu)
c.433-6C>T (n.433-6C>T)
c.257C>T (p.Pro86Leu)
c.-128-6C>T (n.-128-6C>T)
ClinVar
Xg.154031292G>CCA10558595MECP2c.536C>G (p.Pro179Arg)
c.572C>G (p.Pro191Arg)
c.65+104C>G
c.469-6C>G (n.469-6C>G)
n.2884C>G
c.524C>G (p.Pro175Arg)
c.433-6C>G (n.433-6C>G)
c.257C>G (p.Pro86Arg)
c.-128-6C>G (n.-128-6C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154031292G=CA2466570944MECP2c.536C= (p.Pro179=)
c.572C= (p.Pro191=)
c.65+104C=
c.469-6C= (n.469-6C=)
n.2884C=
c.524C= (p.Pro175=)
c.433-6C= (n.433-6C=)
c.257C= (p.Pro86=)
c.-128-6C= (n.-128-6C=)
Xg.154031292G>TCA415173826MECP2c.536C>A (p.Pro179His)
c.572C>A (p.Pro191His)
c.65+104C>A
c.469-6C>A (n.469-6C>A)
n.2884C>A
c.524C>A (p.Pro175His)
c.433-6C>A (n.433-6C>A)
c.257C>A (p.Pro86His)
c.-128-6C>A (n.-128-6C>A)
dbSNP gnomAD v2 gnomAD v4
Xg.154031293G>ACA415173837MECP2c.535C>T (p.Pro179Ser)
c.571C>T (p.Pro191Ser)
c.65+103C>T
c.469-7C>T (n.469-7C>T)
n.2883C>T
c.523C>T (p.Pro175Ser)
c.433-7C>T (n.433-7C>T)
c.256C>T (p.Pro86Ser)
c.-128-7C>T (n.-128-7C>T)
ClinVar gnomAD v4
Xg.154031293G>CCA415173835MECP2c.535C>G (p.Pro179Ala)
c.571C>G (p.Pro191Ala)
c.65+103C>G
c.469-7C>G (n.469-7C>G)
n.2883C>G
c.523C>G (p.Pro175Ala)
c.433-7C>G (n.433-7C>G)
c.256C>G (p.Pro86Ala)
c.-128-7C>G (n.-128-7C>G)
ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.154031293G=CA2466570945MECP2c.535C= (p.Pro179=)
c.571C= (p.Pro191=)
c.65+103C=
c.469-7C= (n.469-7C=)
n.2883C=
c.523C= (p.Pro175=)
c.433-7C= (n.433-7C=)
c.256C= (p.Pro86=)
c.-128-7C= (n.-128-7C=)
Xg.154031293G>TCA415173830MECP2c.535C>A (p.Pro179Thr)
c.571C>A (p.Pro191Thr)
c.65+103C>A
c.469-7C>A (n.469-7C>A)
n.2883C>A
c.523C>A (p.Pro175Thr)
c.433-7C>A (n.433-7C>A)
c.256C>A (p.Pro86Thr)
c.-128-7C>A (n.-128-7C>A)
dbSNP gnomAD v3 gnomAD v4
Xg.154031294A>CCA519705698MECP2c.534T>G (p.Ser178=)
c.570T>G (p.Ser190=)
c.65+102T>G
c.469-8T>G (n.469-8T>G)
n.2882T>G
c.522T>G (p.Ser174=)
c.433-8T>G (n.433-8T>G)
c.255T>G (p.Ser85=)
c.-128-8T>G (n.-128-8T>G)
Xg.154031294A>GCA519705701MECP2c.534T>C (p.Ser178=)
c.570T>C (p.Ser190=)
c.65+102T>C
c.469-8T>C (n.469-8T>C)
n.2882T>C
c.522T>C (p.Ser174=)
c.433-8T>C (n.433-8T>C)
c.255T>C (p.Ser85=)
c.-128-8T>C (n.-128-8T>C)
Xg.154031294A>TCA519705700MECP2c.534T>A (p.Ser178=)
c.570T>A (p.Ser190=)
c.65+102T>A
c.469-8T>A (n.469-8T>A)
n.2882T>A
c.522T>A (p.Ser174=)
c.433-8T>A (n.433-8T>A)
c.255T>A (p.Ser85=)
c.-128-8T>A (n.-128-8T>A)
Xg.154031295G>ACA415173841MECP2c.533C>T (p.Ser178Phe)
c.569C>T (p.Ser190Phe)
c.65+101C>T
c.469-9C>T (n.469-9C>T)
n.2881C>T
c.521C>T (p.Ser174Phe)
c.433-9C>T (n.433-9C>T)
c.254C>T (p.Ser85Phe)
c.-128-9C>T (n.-128-9C>T)
Xg.154031295G>CCA10558596MECP2c.533C>G (p.Ser178Cys)
c.569C>G (p.Ser190Cys)
c.65+101C>G
c.469-9C>G (n.469-9C>G)
n.2881C>G
c.521C>G (p.Ser174Cys)
c.433-9C>G (n.433-9C>G)
c.254C>G (p.Ser85Cys)
c.-128-9C>G (n.-128-9C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031295G=CA2466570946MECP2c.533C= (p.Ser178=)
c.569C= (p.Ser190=)
c.65+101C=
c.469-9C= (n.469-9C=)
n.2881C=
c.521C= (p.Ser174=)
c.433-9C= (n.433-9C=)
c.254C= (p.Ser85=)
c.-128-9C= (n.-128-9C=)
Xg.154031295G>TCA415173845MECP2c.533C>A (p.Ser178Tyr)
c.569C>A (p.Ser190Tyr)
c.65+101C>A
c.469-9C>A (n.469-9C>A)
n.2881C>A
c.521C>A (p.Ser174Tyr)
c.433-9C>A (n.433-9C>A)
c.254C>A (p.Ser85Tyr)
c.-128-9C>A (n.-128-9C>A)
Xg.154031296A=CA2466570948MECP2c.532T= (p.Ser178=)
c.568T= (p.Ser190=)
c.65+100T=
c.469-10T= (n.469-10T=)
n.2880T=
c.520T= (p.Ser174=)
c.433-10T= (n.433-10T=)
c.253T= (p.Ser85=)
c.-128-10T= (n.-128-10T=)
Xg.154031296A>CCA415173850MECP2c.532T>G (p.Ser178Ala)
c.568T>G (p.Ser190Ala)
c.65+100T>G
c.469-10T>G (n.469-10T>G)
n.2880T>G
c.520T>G (p.Ser174Ala)
c.433-10T>G (n.433-10T>G)
c.253T>G (p.Ser85Ala)
c.-128-10T>G (n.-128-10T>G)
Xg.154031296A>GCA415173852MECP2c.532T>C (p.Ser178Pro)
c.568T>C (p.Ser190Pro)
c.65+100T>C
c.469-10T>C (n.469-10T>C)
n.2880T>C
c.520T>C (p.Ser174Pro)
c.433-10T>C (n.433-10T>C)
c.253T>C (p.Ser85Pro)
c.-128-10T>C (n.-128-10T>C)
dbSNP
Xg.154031296A>TCA415173851MECP2c.532T>A (p.Ser178Thr)
c.568T>A (p.Ser190Thr)
c.65+100T>A
c.469-10T>A (n.469-10T>A)
n.2880T>A
c.520T>A (p.Ser174Thr)
c.433-10T>A (n.433-10T>A)
c.253T>A (p.Ser85Thr)
c.-128-10T>A (n.-128-10T>A)
Xg.154031296_154031297delinsATCA2466570947MECP2c.531_532delinsAT (p.Lys177=)
c.567_568delinsAT (p.Lys189=)
c.65+99_65+100delinsAT
c.469-11_469-10delinsAT (n.469-11_469-10delinsAT)
n.2879_2880delinsAT
c.519_520delinsAT (p.Lys173=)
c.433-11_433-10delinsAT (n.433-11_433-10delinsAT)
c.252_253delinsAT (p.Lys84=)
c.-128-11_-128-10delinsAT (n.-128-11_-128-10delinsAT)
Xg.154031297T>ACA415173853MECP2c.531A>T (p.Lys177Asn)
c.567A>T (p.Lys189Asn)
c.65+99A>T
c.469-11A>T (n.469-11A>T)
n.2879A>T
c.519A>T (p.Lys173Asn)
c.433-11A>T (n.433-11A>T)
c.252A>T (p.Lys84Asn)
c.-128-11A>T (n.-128-11A>T)
Xg.154031297T>CCA519705703MECP2c.531A>G (p.Lys177=)
c.567A>G (p.Lys189=)
c.65+99A>G
c.469-11A>G (n.469-11A>G)
n.2879A>G
c.519A>G (p.Lys173=)
c.433-11A>G (n.433-11A>G)
c.252A>G (p.Lys84=)
c.-128-11A>G (n.-128-11A>G)
ClinVar dbSNP gnomAD v4
Xg.154031297T>GCA415173854MECP2c.531A>C (p.Lys177Asn)
c.567A>C (p.Lys189Asn)
c.65+99A>C
c.469-11A>C (n.469-11A>C)
n.2879A>C
c.519A>C (p.Lys173Asn)
c.433-11A>C (n.433-11A>C)
c.252A>C (p.Lys84Asn)
c.-128-11A>C (n.-128-11A>C)
Xg.154031297T=CA2466570949MECP2c.531A= (p.Lys177=)
c.567A= (p.Lys189=)
c.65+99A=
c.469-11A= (n.469-11A=)
n.2879A=
c.519A= (p.Lys173=)
c.433-11A= (n.433-11A=)
c.252A= (p.Lys84=)
c.-128-11A= (n.-128-11A=)
Xg.154031299delCA270461MECP2c.531del (p.Lys177AsnfsTer?)
c.567del (p.Lys189AsnfsTer?)
c.65+99del
c.469-11del (n.469-11del)
n.2879del
c.519del (p.Lys173AsnfsTer?)
c.433-11del (n.433-11del)
c.252del (p.Lys84AsnfsTer?)
c.-128-11del (n.-128-11del)
ClinVar dbSNP
Xg.154031298T>ACA415173857MECP2c.530A>T (p.Lys177Ile)
c.566A>T (p.Lys189Ile)
c.65+98A>T
c.469-12A>T (n.469-12A>T)
n.2878A>T
c.518A>T (p.Lys173Ile)
c.433-12A>T (n.433-12A>T)
c.251A>T (p.Lys84Ile)
c.-128-12A>T (n.-128-12A>T)
Xg.154031298T>CCA415173864MECP2c.530A>G (p.Lys177Arg)
c.566A>G (p.Lys189Arg)
c.65+98A>G
c.469-12A>G (n.469-12A>G)
n.2878A>G
c.518A>G (p.Lys173Arg)
c.433-12A>G (n.433-12A>G)
c.251A>G (p.Lys84Arg)
c.-128-12A>G (n.-128-12A>G)
dbSNP gnomAD v3 gnomAD v4
Xg.154031298T>GCA415173867MECP2c.530A>C (p.Lys177Thr)
c.566A>C (p.Lys189Thr)
c.65+98A>C
c.469-12A>C (n.469-12A>C)
n.2878A>C
c.518A>C (p.Lys173Thr)
c.433-12A>C (n.433-12A>C)
c.251A>C (p.Lys84Thr)
c.-128-12A>C (n.-128-12A>C)
gnomAD v4
Xg.154031298T=CA2466570950MECP2c.530A= (p.Lys177=)
c.566A= (p.Lys189=)
c.65+98A=
c.469-12A= (n.469-12A=)
n.2878A=
c.518A= (p.Lys173=)
c.433-12A= (n.433-12A=)
c.251A= (p.Lys84=)
c.-128-12A= (n.-128-12A=)
Xg.154031299T>ACA232983MECP2c.529A>T (p.Lys177Ter)
c.565A>T (p.Lys189Ter)
c.65+97A>T
c.469-13A>T (n.469-13A>T)
n.2877A>T
c.517A>T (p.Lys173Ter)
c.433-13A>T (n.433-13A>T)
c.250A>T (p.Lys84Ter)
c.-128-13A>T (n.-128-13A>T)
ClinVar dbSNP
Xg.154031299T>CCA10558597MECP2c.529A>G (p.Lys177Glu)
c.565A>G (p.Lys189Glu)
c.65+97A>G
c.469-13A>G (n.469-13A>G)
n.2877A>G
c.517A>G (p.Lys173Glu)
c.433-13A>G (n.433-13A>G)
c.250A>G (p.Lys84Glu)
c.-128-13A>G (n.-128-13A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154031299T>GCA415173870MECP2c.529A>C (p.Lys177Gln)
c.565A>C (p.Lys189Gln)
c.65+97A>C
c.469-13A>C (n.469-13A>C)
n.2877A>C
c.517A>C (p.Lys173Gln)
c.433-13A>C (n.433-13A>C)
c.250A>C (p.Lys84Gln)
c.-128-13A>C (n.-128-13A>C)
gnomAD v4
Xg.154031299T=CA2466570951MECP2c.529A= (p.Lys177=)
c.565A= (p.Lys189=)
c.65+97A=
c.469-13A= (n.469-13A=)
n.2877A=
c.517A= (p.Lys173=)
c.433-13A= (n.433-13A=)
c.250A= (p.Lys84=)
c.-128-13A= (n.-128-13A=)
Xg.154031300G>ACA206921MECP2c.528C>T (p.Pro176=)
c.564C>T (p.Pro188=)
c.65+96C>T
c.469-14C>T (n.469-14C>T)
n.2876C>T
c.516C>T (p.Pro172=)
c.433-14C>T (n.433-14C>T)
c.249C>T (p.Pro83=)
c.-128-14C>T (n.-128-14C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031300G>CCA232982MECP2c.528C>G (p.Pro176=)
c.564C>G (p.Pro188=)
c.65+96C>G
c.469-14C>G (n.469-14C>G)
n.2876C>G
c.516C>G (p.Pro172=)
c.433-14C>G (n.433-14C>G)
c.249C>G (p.Pro83=)
c.-128-14C>G (n.-128-14C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.154031300G=CA2466570952MECP2c.528C= (p.Pro176=)
c.564C= (p.Pro188=)
c.65+96C=
c.469-14C= (n.469-14C=)
n.2876C=
c.516C= (p.Pro172=)
c.433-14C= (n.433-14C=)
c.249C= (p.Pro83=)
c.-128-14C= (n.-128-14C=)
Xg.154031300G>TCA519705711MECP2c.528C>A (p.Pro176=)
c.564C>A (p.Pro188=)
c.65+96C>A
c.469-14C>A (n.469-14C>A)
n.2876C>A
c.516C>A (p.Pro172=)
c.433-14C>A (n.433-14C>A)
c.249C>A (p.Pro83=)
c.-128-14C>A (n.-128-14C>A)
Xg.154031302dupCA337264333MECP2c.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
Xg.154031302delCA2695197152MECP2c.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
Xg.154031301G>ACA16616643MECP2c.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
Xg.154031301G>CCA170319MECP2c.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
Xg.154031301G=CA2466570953MECP2c.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=)
Xg.154031301G>TCA245268MECP2c.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
Xg.154031302G>ACA10558598MECP2c.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
Xg.154031302G>CCA415173876MECP2c.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
Xg.154031302G=CA2466570954MECP2c.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=)
Xg.154031302G>TCA415173886MECP2c.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)
Xg.154031303C>ACA415173888MECP2c.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)
Xg.154031303C>GCA415173898MECP2c.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)
Xg.154031303C>TCA519705716MECP2c.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
Xg.154031304T>ACA415173903MECP2c.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)
Xg.154031304T>CCA415173905MECP2c.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)
Xg.154031304T>GCA415173908MECP2c.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
Xg.154031305T>ACA232979MECP2c.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
Xg.154031305T>CCA415173924MECP2c.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)
Xg.154031305T>GCA415173913MECP2c.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)
Xg.154031305T=CA2466570955MECP2c.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=)
Xg.154031306C>ACA415173930MECP2c.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)
Xg.154031306C>GCA415173931MECP2c.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)
Xg.154031306C>TCA519705725MECP2c.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)
Xg.154031307T>ACA415173932MECP2c.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)
Xg.154031307T>CCA10558599MECP2c.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
Xg.154031307T>GCA415173936MECP2c.521A>C (p.Lys174Thr)
c.557A>C (p.Lys186Thr)
c.65+89A>C
c.469-21A>C (n.469-21A>C)
n.2869A>C
c.507A>C (p.Ter169Tyr)
c.509A>C (p.Lys170Thr)
c.433-21A>C (n.433-21A>C)
c.242A>C (p.Lys81Thr)
c.-128-21A>C (n.-128-21A>C)
ClinVar dbSNP
Xg.154031307T=CA2466570956MECP2c.521A= (p.Lys174=)
c.557A= (p.Lys186=)
c.65+89A=
c.469-21A= (n.469-21A=)
n.2869A=
c.507A= (p.Ter169=)
c.509A= (p.Lys170=)
c.433-21A= (n.433-21A=)
c.242A= (p.Lys81=)
c.-128-21A= (n.-128-21A=)
Xg.154031308T>ACA415173938MECP2c.520A>T (p.Lys174Ter)
c.556A>T (p.Lys186Ter)
c.65+88A>T
c.469-22A>T (n.469-22A>T)
n.2868A>T
c.506A>T (p.Ter169Leu)
c.508A>T (p.Lys170Ter)
c.433-22A>T (n.433-22A>T)
c.241A>T (p.Lys81Ter)
c.-128-22A>T (n.-128-22A>T)
Xg.154031308T>CCA10558600MECP2c.520A>G (p.Lys174Glu)
c.556A>G (p.Lys186Glu)
c.65+88A>G
c.469-22A>G (n.469-22A>G)
n.2868A>G
c.506A>G (p.Ter169=)
c.508A>G (p.Lys170Glu)
c.433-22A>G (n.433-22A>G)
c.241A>G (p.Lys81Glu)
c.-128-22A>G (n.-128-22A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154031308T>GCA415173940MECP2c.520A>C (p.Lys174Gln)
c.556A>C (p.Lys186Gln)
c.65+88A>C
c.469-22A>C (n.469-22A>C)
n.2868A>C
c.506A>C (p.Ter169Ser)
c.508A>C (p.Lys170Gln)
c.433-22A>C (n.433-22A>C)
c.241A>C (p.Lys81Gln)
c.-128-22A>C (n.-128-22A>C)
ClinVar
Xg.154031308T=CA2466570957MECP2c.520A= (p.Lys174=)
c.556A= (p.Lys186=)
c.65+88A=
c.469-22A= (n.469-22A=)
n.2868A=
c.506A= (p.Ter169=)
c.508A= (p.Lys170=)
c.433-22A= (n.433-22A=)
c.241A= (p.Lys81=)
c.-128-22A= (n.-128-22A=)
Xg.154031309A>CCA415173941MECP2c.519T>G (p.Pro173=)
c.555T>G (p.Pro185=)
c.65+87T>G
c.469-23T>G (n.469-23T>G)
n.2867T>G
c.505T>G (p.Ter169Glu)
c.507T>G (p.Pro169=)
c.433-23T>G (n.433-23T>G)
c.240T>G (p.Pro80=)
c.-128-23T>G (n.-128-23T>G)
Xg.154031309A>GCA415173943MECP2c.519T>C (p.Pro173=)
c.555T>C (p.Pro185=)
c.65+87T>C
c.469-23T>C (n.469-23T>C)
n.2867T>C
c.505T>C (p.Ter169Gln)
c.507T>C (p.Pro169=)
c.433-23T>C (n.433-23T>C)
c.240T>C (p.Pro80=)
c.-128-23T>C (n.-128-23T>C)
Xg.154031309A>TCA415173950MECP2c.519T>A (p.Pro173=)
c.555T>A (p.Pro185=)
c.65+87T>A
c.469-23T>A (n.469-23T>A)
n.2867T>A
c.505T>A (p.Ter169Lys)
c.507T>A (p.Pro169=)
c.433-23T>A (n.433-23T>A)
c.240T>A (p.Pro80=)
c.-128-23T>A (n.-128-23T>A)
Xg.154031310G>ACA415173955MECP2c.518C>T (p.Pro173Leu)
c.554C>T (p.Pro185Leu)
c.65+86C>T
c.469-24C>T (n.469-24C>T)
n.2866C>T
c.504C>T (p.Thr168=)
c.506C>T (p.Pro169Leu)
c.433-24C>T (n.433-24C>T)
c.239C>T (p.Pro80Leu)
c.-128-24C>T (n.-128-24C>T)
gnomAD v4
Xg.154031310G>CCA170316MECP2c.518C>G (p.Pro173Arg)
c.554C>G (p.Pro185Arg)
c.65+86C>G
c.469-24C>G (n.469-24C>G)
n.2866C>G
c.504C>G (p.Thr168=)
c.506C>G (p.Pro169Arg)
c.433-24C>G (n.433-24C>G)
c.239C>G (p.Pro80Arg)
c.-128-24C>G (n.-128-24C>G)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031310G=CA2466570958MECP2c.518C= (p.Pro173=)
c.554C= (p.Pro185=)
c.65+86C=
c.469-24C= (n.469-24C=)
n.2866C=
c.504C= (p.Thr168=)
c.506C= (p.Pro169=)
c.433-24C= (n.433-24C=)
c.239C= (p.Pro80=)
c.-128-24C= (n.-128-24C=)
Xg.154031310G>TCA415173953MECP2c.518C>A (p.Pro173His)
c.554C>A (p.Pro185His)
c.65+86C>A
c.469-24C>A (n.469-24C>A)
n.2866C>A
c.504C>A (p.Thr168=)
c.506C>A (p.Pro169His)
c.433-24C>A (n.433-24C>A)
c.239C>A (p.Pro80His)
c.-128-24C>A (n.-128-24C>A)
Xg.154031311G>ACA415173957MECP2c.517C>T (p.Pro173Ser)
c.553C>T (p.Pro185Ser)
c.65+85C>T
c.469-25C>T (n.469-25C>T)
n.2865C>T
c.503C>T (p.Thr168Ile)
c.505C>T (p.Pro169Ser)
c.433-25C>T (n.433-25C>T)
c.238C>T (p.Pro80Ser)
c.-128-25C>T (n.-128-25C>T)
dbSNP gnomAD v2 gnomAD v4
Xg.154031311G>CCA270458MECP2c.517C>G (p.Pro173Ala)
c.553C>G (p.Pro185Ala)
c.65+85C>G
c.469-25C>G (n.469-25C>G)
n.2865C>G
c.503C>G (p.Thr168Ser)
c.505C>G (p.Pro169Ala)
c.433-25C>G (n.433-25C>G)
c.238C>G (p.Pro80Ala)
c.-128-25C>G (n.-128-25C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031311G=CA2466570959MECP2c.517C= (p.Pro173=)
c.553C= (p.Pro185=)
c.65+85C=
c.469-25C= (n.469-25C=)
n.2865C=
c.503C= (p.Thr168=)
c.505C= (p.Pro169=)
c.433-25C= (n.433-25C=)
c.238C= (p.Pro80=)
c.-128-25C= (n.-128-25C=)
Xg.154031311G>TCA415173958MECP2c.517C>A (p.Pro173Thr)
c.553C>A (p.Pro185Thr)
c.65+85C>A
c.469-25C>A (n.469-25C>A)
n.2865C>A
c.503C>A (p.Thr168Asn)
c.505C>A (p.Pro169Thr)
c.433-25C>A (n.433-25C>A)
c.238C>A (p.Pro80Thr)
c.-128-25C>A (n.-128-25C>A)
ClinVar dbSNP gnomAD v4
Xg.154031312T>ACA415173960MECP2c.516A>T (p.Pro172=)
c.552A>T (p.Pro184=)
c.65+84A>T
c.469-26A>T (n.469-26A>T)
n.2864A>T
c.502A>T (p.Thr168Ser)
c.504A>T (p.Pro168=)
c.433-26A>T (n.433-26A>T)
c.237A>T (p.Pro79=)
c.-128-26A>T (n.-128-26A>T)
Xg.154031312T>CCA415173962MECP2c.516A>G (p.Pro172=)
c.552A>G (p.Pro184=)
c.65+84A>G
c.469-26A>G (n.469-26A>G)
n.2864A>G
c.502A>G (p.Thr168Ala)
c.504A>G (p.Pro168=)
c.433-26A>G (n.433-26A>G)
c.237A>G (p.Pro79=)
c.-128-26A>G (n.-128-26A>G)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031312T>GCA415173966MECP2c.516A>C (p.Pro172=)
c.552A>C (p.Pro184=)
c.65+84A>C
c.469-26A>C (n.469-26A>C)
n.2864A>C
c.502A>C (p.Thr168Pro)
c.504A>C (p.Pro168=)
c.433-26A>C (n.433-26A>C)
c.237A>C (p.Pro79=)
c.-128-26A>C (n.-128-26A>C)
Xg.154031312T=CA2466570960MECP2c.516A= (p.Pro172=)
c.552A= (p.Pro184=)
c.65+84A=
c.469-26A= (n.469-26A=)
n.2864A=
c.502A= (p.Thr168=)
c.504A= (p.Pro168=)
c.433-26A= (n.433-26A=)
c.237A= (p.Pro79=)
c.-128-26A= (n.-128-26A=)
Xg.154031313G>ACA170313MECP2c.515C>T (p.Pro172Leu)
c.551C>T (p.Pro184Leu)
c.65+83C>T
c.469-27C>T (n.469-27C>T)
n.2863C>T
c.501C>T (p.Thr167=)
c.503C>T (p.Pro168Leu)
c.433-27C>T (n.433-27C>T)
c.236C>T (p.Pro79Leu)
c.-128-27C>T (n.-128-27C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031313G>CCA415173970MECP2c.515C>G (p.Pro172Arg)
c.551C>G (p.Pro184Arg)
c.65+83C>G
c.469-27C>G (n.469-27C>G)
n.2863C>G
c.501C>G (p.Thr167=)
c.503C>G (p.Pro168Arg)
c.433-27C>G (n.433-27C>G)
c.236C>G (p.Pro79Arg)
c.-128-27C>G (n.-128-27C>G)
gnomAD v4
Xg.154031313G=CA2466570961MECP2c.515C= (p.Pro172=)
c.551C= (p.Pro184=)
c.65+83C=
c.469-27C= (n.469-27C=)
n.2863C=
c.501C= (p.Thr167=)
c.503C= (p.Pro168=)
c.433-27C= (n.433-27C=)
c.236C= (p.Pro79=)
c.-128-27C= (n.-128-27C=)
Xg.154031313G>TCA415173973MECP2c.515C>A (p.Pro172Gln)
c.551C>A (p.Pro184Gln)
c.65+83C>A
c.469-27C>A (n.469-27C>A)
n.2863C>A
c.501C>A (p.Thr167=)
c.503C>A (p.Pro168Gln)
c.433-27C>A (n.433-27C>A)
c.236C>A (p.Pro79Gln)
c.-128-27C>A (n.-128-27C>A)
Xg.154031314G>ACA170310MECP2c.514C>T (p.Pro172Ser)
c.550C>T (p.Pro184Ser)
c.65+82C>T
c.469-28C>T (n.469-28C>T)
n.2862C>T
c.500C>T (p.Thr167Ile)
c.502C>T (p.Pro168Ser)
c.433-28C>T (n.433-28C>T)
c.235C>T (p.Pro79Ser)
c.-128-28C>T (n.-128-28C>T)
ClinVar dbSNP gnomAD v4
Xg.154031314G>CCA415173980MECP2c.514C>G (p.Pro172Ala)
c.550C>G (p.Pro184Ala)
c.65+82C>G
c.469-28C>G (n.469-28C>G)
n.2862C>G
c.500C>G (p.Thr167Ser)
c.502C>G (p.Pro168Ala)
c.433-28C>G (n.433-28C>G)
c.235C>G (p.Pro79Ala)
c.-128-28C>G (n.-128-28C>G)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031314G=CA2466570962MECP2c.514C= (p.Pro172=)
c.550C= (p.Pro184=)
c.65+82C=
c.469-28C= (n.469-28C=)
n.2862C=
c.500C= (p.Thr167=)
c.502C= (p.Pro168=)
c.433-28C= (n.433-28C=)
c.235C= (p.Pro79=)
c.-128-28C= (n.-128-28C=)
Xg.154031314G>TCA415173983MECP2c.514C>A (p.Pro172Thr)
c.550C>A (p.Pro184Thr)
c.65+82C>A
c.469-28C>A (n.469-28C>A)
n.2862C>A
c.500C>A (p.Thr167Asn)
c.502C>A (p.Pro168Thr)
c.433-28C>A (n.433-28C>A)
c.235C>A (p.Pro79Thr)
c.-128-28C>A (n.-128-28C>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.154031315T>ACA415173992MECP2c.513A>T (p.Lys171Asn)
c.549A>T (p.Lys183Asn)
c.65+81A>T
c.469-29A>T (n.469-29A>T)
n.2861A>T
c.499A>T (p.Thr167Ser)
c.501A>T (p.Lys167Asn)
c.433-29A>T (n.433-29A>T)
c.234A>T (p.Lys78Asn)
c.-128-29A>T (n.-128-29A>T)
Xg.154031315T>CCA10558601MECP2c.513A>G (p.Lys171=)
c.549A>G (p.Lys183=)
c.65+81A>G
c.469-29A>G (n.469-29A>G)
n.2861A>G
c.499A>G (p.Thr167Ala)
c.501A>G (p.Lys167=)
c.433-29A>G (n.433-29A>G)
c.234A>G (p.Lys78=)
c.-128-29A>G (n.-128-29A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154031315T>GCA415173986MECP2c.513A>C (p.Lys171Asn)
c.549A>C (p.Lys183Asn)
c.65+81A>C
c.469-29A>C (n.469-29A>C)
n.2861A>C
c.499A>C (p.Thr167Pro)
c.501A>C (p.Lys167Asn)
c.433-29A>C (n.433-29A>C)
c.234A>C (p.Lys78Asn)
c.-128-29A>C (n.-128-29A>C)
Xg.154031315T=CA2466570963MECP2c.513A= (p.Lys171=)
c.549A= (p.Lys183=)
c.65+81A=
c.469-29A= (n.469-29A=)
n.2861A=
c.499A= (p.Thr167=)
c.501A= (p.Lys167=)
c.433-29A= (n.433-29A=)
c.234A= (p.Lys78=)
c.-128-29A= (n.-128-29A=)
Xg.154031316T>ACA415174008MECP2c.512A>T (p.Lys171Ile)
c.548A>T (p.Lys183Ile)
c.65+80A>T
c.469-30A>T (n.469-30A>T)
n.2860A>T
c.498A>T (p.Glu166Asp)
c.500A>T (p.Lys167Ile)
c.433-30A>T (n.433-30A>T)
c.233A>T (p.Lys78Ile)
c.-128-30A>T (n.-128-30A>T)
Xg.154031316T>CCA415174001MECP2c.512A>G (p.Lys171Arg)
c.548A>G (p.Lys183Arg)
c.65+80A>G
c.469-30A>G (n.469-30A>G)
n.2860A>G
c.498A>G (p.Glu166=)
c.500A>G (p.Lys167Arg)
c.433-30A>G (n.433-30A>G)
c.233A>G (p.Lys78Arg)
c.-128-30A>G (n.-128-30A>G)
gnomAD v4
Xg.154031316T>GCA415174005MECP2c.512A>C (p.Lys171Thr)
c.548A>C (p.Lys183Thr)
c.65+80A>C
c.469-30A>C (n.469-30A>C)
n.2860A>C
c.498A>C (p.Glu166Asp)
c.500A>C (p.Lys167Thr)
c.433-30A>C (n.433-30A>C)
c.233A>C (p.Lys78Thr)
c.-128-30A>C (n.-128-30A>C)
Xg.154031317T>ACA415174010MECP2c.511A>T (p.Lys171Ter)
c.547A>T (p.Lys183Ter)
c.65+79A>T
c.469-31A>T (n.469-31A>T)
n.2859A>T
c.497A>T (p.Glu166Val)
c.499A>T (p.Lys167Ter)
c.433-31A>T (n.433-31A>T)
c.232A>T (p.Lys78Ter)
c.-128-31A>T (n.-128-31A>T)
Xg.154031317T>CCA415174012MECP2c.511A>G (p.Lys171Glu)
c.547A>G (p.Lys183Glu)
c.65+79A>G
c.469-31A>G (n.469-31A>G)
n.2859A>G
c.497A>G (p.Glu166Gly)
c.499A>G (p.Lys167Glu)
c.433-31A>G (n.433-31A>G)
c.232A>G (p.Lys78Glu)
c.-128-31A>G (n.-128-31A>G)
Xg.154031317T>GCA10558602MECP2c.511A>C (p.Lys171Gln)
c.547A>C (p.Lys183Gln)
c.65+79A>C
c.469-31A>C (n.469-31A>C)
n.2859A>C
c.497A>C (p.Glu166Ala)
c.499A>C (p.Lys167Gln)
c.433-31A>C (n.433-31A>C)
c.232A>C (p.Lys78Gln)
c.-128-31A>C (n.-128-31A>C)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154031317T=CA2466570964MECP2c.511A= (p.Lys171=)
c.547A= (p.Lys183=)
c.65+79A=
c.469-31A= (n.469-31A=)
n.2859A=
c.497A= (p.Glu166=)
c.499A= (p.Lys167=)
c.433-31A= (n.433-31A=)
c.232A= (p.Lys78=)
c.-128-31A= (n.-128-31A=)
Xg.154031318C>ACA415174021MECP2c.510G>T (p.Gln170His)
c.546G>T (p.Gln182His)
c.65+78G>T
c.469-32G>T (n.469-32G>T)
n.2858G>T
c.496G>T (p.Glu166Ter)
c.498G>T (p.Gln166His)
c.433-32G>T (n.433-32G>T)
c.231G>T (p.Gln77His)
c.-128-32G>T (n.-128-32G>T)
Xg.154031318C>GCA415174024MECP2c.510G>C (p.Gln170His)
c.546G>C (p.Gln182His)
c.65+78G>C
c.469-32G>C (n.469-32G>C)
n.2858G>C
c.496G>C (p.Glu166Gln)
c.498G>C (p.Gln166His)
c.433-32G>C (n.433-32G>C)
c.231G>C (p.Gln77His)
c.-128-32G>C (n.-128-32G>C)
Xg.154031318C>TCA415174038MECP2c.510G>A (p.Gln170=)
c.546G>A (p.Gln182=)
c.65+78G>A
c.469-32G>A (n.469-32G>A)
n.2858G>A
c.496G>A (p.Glu166Lys)
c.498G>A (p.Gln166=)
c.433-32G>A (n.433-32G>A)
c.231G>A (p.Gln77=)
c.-128-32G>A (n.-128-32G>A)
gnomAD v4
Xg.154031319T>ACA415174042MECP2c.509A>T (p.Gln170Leu)
c.545A>T (p.Gln182Leu)
c.65+77A>T
c.469-33A>T (n.469-33A>T)
n.2857A>T
c.495A>T (p.Ala165=)
c.497A>T (p.Gln166Leu)
c.433-33A>T (n.433-33A>T)
c.230A>T (p.Gln77Leu)
c.-128-33A>T (n.-128-33A>T)
Xg.154031319T>CCA415174043MECP2c.509A>G (p.Gln170Arg)
c.545A>G (p.Gln182Arg)
c.65+77A>G
c.469-33A>G (n.469-33A>G)
n.2857A>G
c.495A>G (p.Ala165=)
c.497A>G (p.Gln166Arg)
c.433-33A>G (n.433-33A>G)
c.230A>G (p.Gln77Arg)
c.-128-33A>G (n.-128-33A>G)
gnomAD v4
Xg.154031319T>GCA415174044MECP2c.509A>C (p.Gln170Pro)
c.545A>C (p.Gln182Pro)
c.65+77A>C
c.469-33A>C (n.469-33A>C)
n.2857A>C
c.495A>C (p.Ala165=)
c.497A>C (p.Gln166Pro)
c.433-33A>C (n.433-33A>C)
c.230A>C (p.Gln77Pro)
c.-128-33A>C (n.-128-33A>C)
Xg.154031320G>ACA270454MECP2c.508C>T (p.Gln170Ter)
c.544C>T (p.Gln182Ter)
c.65+76C>T
c.469-34C>T (n.469-34C>T)
n.2856C>T
c.494C>T (p.Ala165Val)
c.496C>T (p.Gln166Ter)
c.433-34C>T (n.433-34C>T)
c.229C>T (p.Gln77Ter)
c.-128-34C>T (n.-128-34C>T)
ClinVar dbSNP
Xg.154031320G>CCA415174045MECP2c.508C>G (p.Gln170Glu)
c.544C>G (p.Gln182Glu)
c.65+76C>G
c.469-34C>G (n.469-34C>G)
n.2856C>G
c.494C>G (p.Ala165Gly)
c.496C>G (p.Gln166Glu)
c.433-34C>G (n.433-34C>G)
c.229C>G (p.Gln77Glu)
c.-128-34C>G (n.-128-34C>G)
dbSNP gnomAD v2 gnomAD v4
Xg.154031320G=CA2466570965MECP2c.508C= (p.Gln170=)
c.544C= (p.Gln182=)
c.65+76C=
c.469-34C= (n.469-34C=)
n.2856C=
c.494C= (p.Ala165=)
c.496C= (p.Gln166=)
c.433-34C= (n.433-34C=)
c.229C= (p.Gln77=)
c.-128-34C= (n.-128-34C=)
Xg.154031320G>TCA415174049MECP2c.508C>A (p.Gln170Lys)
c.544C>A (p.Gln182Lys)
c.65+76C>A
c.469-34C>A (n.469-34C>A)
n.2856C>A
c.494C>A (p.Ala165Glu)
c.496C>A (p.Gln166Lys)
c.433-34C>A (n.433-34C>A)
c.229C>A (p.Gln77Lys)
c.-128-34C>A (n.-128-34C>A)
Xg.154031321C>ACA415174054MECP2c.507G>T (p.Glu169Asp)
c.543G>T (p.Glu181Asp)
c.65+75G>T
c.469-35G>T (n.469-35G>T)
n.2855G>T
c.493G>T (p.Ala165Ser)
c.495G>T (p.Glu165Asp)
c.433-35G>T (n.433-35G>T)
c.228G>T (p.Glu76Asp)
c.-128-35G>T (n.-128-35G>T)
Xg.154031321C=CA2466570966MECP2c.507G= (p.Glu169=)
c.543G= (p.Glu181=)
c.65+75G=
c.469-35G= (n.469-35G=)
n.2855G=
c.493G= (p.Ala165=)
c.495G= (p.Glu165=)
c.433-35G= (n.433-35G=)
c.228G= (p.Glu76=)
c.-128-35G= (n.-128-35G=)
Xg.154031321C>GCA415174058MECP2c.507G>C (p.Glu169Asp)
c.543G>C (p.Glu181Asp)
c.65+75G>C
c.469-35G>C (n.469-35G>C)
n.2855G>C
c.493G>C (p.Ala165Pro)
c.495G>C (p.Glu165Asp)
c.433-35G>C (n.433-35G>C)
c.228G>C (p.Glu76Asp)
c.-128-35G>C (n.-128-35G>C)
Xg.154031321C>TCA415174064MECP2c.507G>A (p.Glu169=)
c.543G>A (p.Glu181=)
c.65+75G>A
c.469-35G>A (n.469-35G>A)
n.2855G>A
c.493G>A (p.Ala165Thr)
c.495G>A (p.Glu165=)
c.433-35G>A (n.433-35G>A)
c.228G>A (p.Glu76=)
c.-128-35G>A (n.-128-35G>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.154031324_154031325dupCA2695202121MECP2c.506_507dup (p.Gln170SerfsTer?)
c.542_543dup (p.Gln182SerfsTer?)
c.65+74_65+75dup
c.469-36_469-35dup (n.469-36_469-35dup)
n.2854_2855dup
c.492_493dup (p.Ala165GlufsTer?)
c.494_495dup (p.Gln166SerfsTer?)
c.433-36_433-35dup (n.433-36_433-35dup)
c.227_228dup (p.Gln77SerfsTer?)
c.-128-36_-128-35dup (n.-128-36_-128-35dup)
ClinVar
Xg.154031322T>ACA415174067MECP2c.506A>T (p.Glu169Val)
c.542A>T (p.Glu181Val)
c.65+74A>T
c.469-36A>T (n.469-36A>T)
n.2854A>T
c.492A>T (p.Arg164Ser)
c.494A>T (p.Glu165Val)
c.433-36A>T (n.433-36A>T)
c.227A>T (p.Glu76Val)
c.-128-36A>T (n.-128-36A>T)
Xg.154031322T>CCA172568MECP2c.506A>G (p.Glu169Gly)
c.542A>G (p.Glu181Gly)
c.65+74A>G
c.469-36A>G (n.469-36A>G)
n.2854A>G
c.492A>G (p.Arg164=)
c.494A>G (p.Glu165Gly)
c.433-36A>G (n.433-36A>G)
c.227A>G (p.Glu76Gly)
c.-128-36A>G (n.-128-36A>G)
ClinVar dbSNP gnomAD v4
Xg.154031322T>GCA415174075MECP2c.506A>C (p.Glu169Ala)
c.542A>C (p.Glu181Ala)
c.65+74A>C
c.469-36A>C (n.469-36A>C)
n.2854A>C
c.492A>C (p.Arg164Ser)
c.494A>C (p.Glu165Ala)
c.433-36A>C (n.433-36A>C)
c.227A>C (p.Glu76Ala)
c.-128-36A>C (n.-128-36A>C)
Xg.154031322T=CA2466570967MECP2c.506A= (p.Glu169=)
c.542A= (p.Glu181=)
c.65+74A=
c.469-36A= (n.469-36A=)
n.2854A=
c.492A= (p.Arg164=)
c.494A= (p.Glu165=)
c.433-36A= (n.433-36A=)
c.227A= (p.Glu76=)
c.-128-36A= (n.-128-36A=)
Xg.154031323C>ACA415174078MECP2c.505G>T (p.Glu169Ter)
c.541G>T (p.Glu181Ter)
c.65+73G>T
c.469-37G>T (n.469-37G>T)
n.2853G>T
c.491G>T (p.Arg164Ile)
c.493G>T (p.Glu165Ter)
c.433-37G>T (n.433-37G>T)
c.226G>T (p.Glu76Ter)
c.-128-37G>T (n.-128-37G>T)
ClinVar dbSNP
Xg.154031323C=CA2466570968MECP2c.505G= (p.Glu169=)
c.541G= (p.Glu181=)
c.65+73G=
c.469-37G= (n.469-37G=)
n.2853G=
c.491G= (p.Arg164=)
c.493G= (p.Glu165=)
c.433-37G= (n.433-37G=)
c.226G= (p.Glu76=)
c.-128-37G= (n.-128-37G=)
Xg.154031323C>GCA415174081MECP2c.505G>C (p.Glu169Gln)
c.541G>C (p.Glu181Gln)
c.65+73G>C
c.469-37G>C (n.469-37G>C)
n.2853G>C
c.491G>C (p.Arg164Thr)
c.493G>C (p.Glu165Gln)
c.433-37G>C (n.433-37G>C)
c.226G>C (p.Glu76Gln)
c.-128-37G>C (n.-128-37G>C)
Xg.154031323C>TCA415174086MECP2c.505G>A (p.Glu169Lys)
c.541G>A (p.Glu181Lys)
c.65+73G>A
c.469-37G>A (n.469-37G>A)
n.2853G>A
c.491G>A (p.Arg164Lys)
c.493G>A (p.Glu165Lys)
c.433-37G>A (n.433-37G>A)
c.226G>A (p.Glu76Lys)
c.-128-37G>A (n.-128-37G>A)
gnomAD v4
Xg.154031324T>ACA415174088MECP2c.504A>T (p.Arg168=)
c.540A>T (p.Arg180=)
c.65+72A>T
c.469-38A>T (n.469-38A>T)
n.2852A>T
c.490A>T (p.Arg164Ter)
c.492A>T (p.Arg164=)
c.433-38A>T (n.433-38A>T)
c.225A>T (p.Arg75=)
c.-128-38A>T (n.-128-38A>T)
Xg.154031324T>CCA415174093MECP2c.504A>G (p.Arg168=)
c.540A>G (p.Arg180=)
c.65+72A>G
c.469-38A>G (n.469-38A>G)
n.2852A>G
c.490A>G (p.Arg164Gly)
c.492A>G (p.Arg164=)
c.433-38A>G (n.433-38A>G)
c.225A>G (p.Arg75=)
c.-128-38A>G (n.-128-38A>G)
Xg.154031324T>GCA519705545MECP2c.504A>C (p.Arg168=)
c.540A>C (p.Arg180=)
c.65+72A>C
c.469-38A>C (n.469-38A>C)
n.2852A>C
c.490A>C (p.Arg164=)
c.492A>C (p.Arg164=)
c.433-38A>C (n.433-38A>C)
c.225A>C (p.Arg75=)
c.-128-38A>C (n.-128-38A>C)
Xg.154031325C>ACA415174108MECP2c.503G>T (p.Arg168Leu)
c.539G>T (p.Arg180Leu)
c.65+71G>T
c.469-39G>T (n.469-39G>T)
n.2851G>T
c.489G>T (p.Ala163=)
c.491G>T (p.Arg164Leu)
c.433-39G>T (n.433-39G>T)
c.224G>T (p.Arg75Leu)
c.-128-39G>T (n.-128-39G>T)
Xg.154031325C>GCA415174112MECP2c.503G>C (p.Arg168Pro)
c.539G>C (p.Arg180Pro)
c.65+71G>C
c.469-39G>C (n.469-39G>C)
n.2851G>C
c.489G>C (p.Ala163=)
c.491G>C (p.Arg164Pro)
c.433-39G>C (n.433-39G>C)
c.224G>C (p.Arg75Pro)
c.-128-39G>C (n.-128-39G>C)
ClinVar
Xg.154031325C>TCA415174097MECP2c.503G>A (p.Arg168Gln)
c.539G>A (p.Arg180Gln)
c.65+71G>A
c.469-39G>A (n.469-39G>A)
n.2851G>A
c.489G>A (p.Ala163=)
c.491G>A (p.Arg164Gln)
c.433-39G>A (n.433-39G>A)
c.224G>A (p.Arg75Gln)
c.-128-39G>A (n.-128-39G>A)
Xg.154031326G>ACA256092MECP2c.502C>T (p.Arg168Ter)
c.538C>T (p.Arg180Ter)
c.65+70C>T
c.469-40C>T (n.469-40C>T)
n.2850C>T
c.488C>T (p.Ala163Val)
c.490C>T (p.Arg164Ter)
c.433-40C>T (n.433-40C>T)
c.223C>T (p.Arg75Ter)
c.-128-40C>T (n.-128-40C>T)
ClinVar dbSNP
Xg.154031326G>CCA415174117MECP2c.502C>G (p.Arg168Gly)
c.538C>G (p.Arg180Gly)
c.65+70C>G
c.469-40C>G (n.469-40C>G)
n.2850C>G
c.488C>G (p.Ala163Gly)
c.490C>G (p.Arg164Gly)
c.433-40C>G (n.433-40C>G)
c.223C>G (p.Arg75Gly)
c.-128-40C>G (n.-128-40C>G)
Xg.154031326G=CA2466570969MECP2c.502C= (p.Arg168=)
c.538C= (p.Arg180=)
c.65+70C=
c.469-40C= (n.469-40C=)
n.2850C=
c.488C= (p.Ala163=)
c.490C= (p.Arg164=)
c.433-40C= (n.433-40C=)
c.223C= (p.Arg75=)
c.-128-40C= (n.-128-40C=)
Xg.154031326G>TCA274594MECP2c.502C>A (p.Arg168=)
c.538C>A (p.Arg180=)
c.65+70C>A
c.469-40C>A (n.469-40C>A)
n.2850C>A
c.488C>A (p.Ala163Glu)
c.490C>A (p.Arg164=)
c.433-40C>A (n.433-40C>A)
c.223C>A (p.Arg75=)
c.-128-40C>A (n.-128-40C>A)
ClinVar dbSNP
Xg.154031327C>ACA415174134MECP2c.501G>T (p.Arg167=)
c.537G>T (p.Arg179=)
c.65+69G>T
c.469-41G>T (n.469-41G>T)
n.2849G>T
c.487G>T (p.Ala163Ser)
c.489G>T (p.Arg163=)
c.433-41G>T (n.433-41G>T)
c.222G>T (p.Arg74=)
c.-128-41G>T (n.-128-41G>T)
Xg.154031327C>GCA415174135MECP2c.501G>C (p.Arg167=)
c.537G>C (p.Arg179=)
c.65+69G>C
c.469-41G>C (n.469-41G>C)
n.2849G>C
c.487G>C (p.Ala163Pro)
c.489G>C (p.Arg163=)
c.433-41G>C (n.433-41G>C)
c.222G>C (p.Arg74=)
c.-128-41G>C (n.-128-41G>C)
Xg.154031327C>TCA415174137MECP2c.501G>A (p.Arg167=)
c.537G>A (p.Arg179=)
c.65+69G>A
c.469-41G>A (n.469-41G>A)
n.2849G>A
c.487G>A (p.Ala163Thr)
c.489G>A (p.Arg163=)
c.433-41G>A (n.433-41G>A)
c.222G>A (p.Arg74=)
c.-128-41G>A (n.-128-41G>A)
Xg.154031328C>ACA415174140MECP2c.500G>T (p.Arg167Leu)
c.536G>T (p.Arg179Leu)
c.65+68G>T
c.469-42G>T (n.469-42G>T)
n.2848G>T
c.486G>T (p.Pro162=)
c.488G>T (p.Arg163Leu)
c.433-42G>T (n.433-42G>T)
c.221G>T (p.Arg74Leu)
c.-128-42G>T (n.-128-42G>T)
Xg.154031328C>GCA415174142MECP2c.500G>C (p.Arg167Pro)
c.536G>C (p.Arg179Pro)
c.65+68G>C
c.469-42G>C (n.469-42G>C)
n.2848G>C
c.486G>C (p.Pro162=)
c.488G>C (p.Arg163Pro)
c.433-42G>C (n.433-42G>C)
c.221G>C (p.Arg74Pro)
c.-128-42G>C (n.-128-42G>C)
ClinVar dbSNP
Xg.154031328C>TCA415174145MECP2c.500G>A (p.Arg167Gln)
c.536G>A (p.Arg179Gln)
c.65+68G>A
c.469-42G>A (n.469-42G>A)
n.2848G>A
c.486G>A (p.Pro162=)
c.488G>A (p.Arg163Gln)
c.433-42G>A (n.433-42G>A)
c.221G>A (p.Arg74Gln)
c.-128-42G>A (n.-128-42G>A)
gnomAD v4
Xg.154031329G>ACA170308MECP2c.499C>T (p.Arg167Trp)
c.535C>T (p.Arg179Trp)
c.65+67C>T
c.469-43C>T (n.469-43C>T)
n.2847C>T
c.485C>T (p.Pro162Leu)
c.487C>T (p.Arg163Trp)
c.433-43C>T (n.433-43C>T)
c.220C>T (p.Arg74Trp)
c.-128-43C>T (n.-128-43C>T)
ClinVar dbSNP gnomAD v4
Xg.154031329G>CCA415174156MECP2c.499C>G (p.Arg167Gly)
c.535C>G (p.Arg179Gly)
c.65+67C>G
c.469-43C>G (n.469-43C>G)
n.2847C>G
c.485C>G (p.Pro162Arg)
c.487C>G (p.Arg163Gly)
c.433-43C>G (n.433-43C>G)
c.220C>G (p.Arg74Gly)
c.-128-43C>G (n.-128-43C>G)
Xg.154031329G=CA2466570970MECP2c.499C= (p.Arg167=)
c.535C= (p.Arg179=)
c.65+67C=
c.469-43C= (n.469-43C=)
n.2847C=
c.485C= (p.Pro162=)
c.487C= (p.Arg163=)
c.433-43C= (n.433-43C=)
c.220C= (p.Arg74=)
c.-128-43C= (n.-128-43C=)
Xg.154031329G>TCA415174159MECP2c.499C>A (p.Arg167=)
c.535C>A (p.Arg179=)
c.65+67C>A
c.469-43C>A (n.469-43C>A)
n.2847C>A
c.485C>A (p.Pro162Gln)
c.487C>A (p.Arg163=)
c.433-43C>A (n.433-43C>A)
c.220C>A (p.Arg74=)
c.-128-43C>A (n.-128-43C>A)
dbSNP gnomAD v4
Xg.154031331dupCA2695237605MECP2c.499dup (p.Arg167ProfsTer8)
c.535dup (p.Arg179ProfsTer8)
c.65+67dup
c.469-43dup (n.469-43dup)
n.2847dup
c.485dup (p.Ala163GlyfsTer?)
c.487dup (p.Arg163ProfsTer8)
c.433-43dup (n.433-43dup)
c.220dup (p.Arg74ProfsTer8)
c.-128-43dup (n.-128-43dup)
Xg.154031331delCA2695237604MECP2c.499del (p.Arg167GlyfsTer?)
c.535del (p.Arg179GlyfsTer?)
c.65+67del
c.469-43del (n.469-43del)
n.2847del
c.485del (p.Pro162ArgfsTer?)
c.487del (p.Arg163GlyfsTer?)
c.433-43del (n.433-43del)
c.220del (p.Arg74GlyfsTer?)
c.-128-43del (n.-128-43del)
Xg.154031330G>ACA415174168MECP2c.498C>T (p.Ser166=)
c.534C>T (p.Ser178=)
c.65+66C>T
c.469-44C>T (n.469-44C>T)
n.2846C>T
c.484C>T (p.Pro162Ser)
c.486C>T (p.Ser162=)
c.433-44C>T (n.433-44C>T)
c.219C>T (p.Ser73=)
c.-128-44C>T (n.-128-44C>T)
ClinVar dbSNP
Xg.154031330G>CCA415174161MECP2c.498C>G (p.Ser166=)
c.534C>G (p.Ser178=)
c.65+66C>G
c.469-44C>G (n.469-44C>G)
n.2846C>G
c.484C>G (p.Pro162Ala)
c.486C>G (p.Ser162=)
c.433-44C>G (n.433-44C>G)
c.219C>G (p.Ser73=)
c.-128-44C>G (n.-128-44C>G)
dbSNP gnomAD v2 gnomAD v4
Xg.154031330G=CA2466570971MECP2c.498C= (p.Ser166=)
c.534C= (p.Ser178=)
c.65+66C=
c.469-44C= (n.469-44C=)
n.2846C=
c.484C= (p.Pro162=)
c.486C= (p.Ser162=)
c.433-44C= (n.433-44C=)
c.219C= (p.Ser73=)
c.-128-44C= (n.-128-44C=)
Xg.154031330G>TCA415174165MECP2c.498C>A (p.Ser166=)
c.534C>A (p.Ser178=)
c.65+66C>A
c.469-44C>A (n.469-44C>A)
n.2846C>A
c.484C>A (p.Pro162Thr)
c.486C>A (p.Ser162=)
c.433-44C>A (n.433-44C>A)
c.219C>A (p.Ser73=)
c.-128-44C>A (n.-128-44C>A)
Xg.154031331G>ACA415174172MECP2c.497C>T (p.Ser166Phe)
c.533C>T (p.Ser178Phe)
c.65+65C>T
c.469-45C>T (n.469-45C>T)
n.2845C>T
c.483C>T (p.Leu161=)
c.485C>T (p.Ser162Phe)
c.433-45C>T (n.433-45C>T)
c.218C>T (p.Ser73Phe)
c.-128-45C>T (n.-128-45C>T)
gnomAD v4
Xg.154031331G>CCA415174176MECP2c.497C>G (p.Ser166Cys)
c.533C>G (p.Ser178Cys)
c.65+65C>G
c.469-45C>G (n.469-45C>G)
n.2845C>G
c.483C>G (p.Leu161=)
c.485C>G (p.Ser162Cys)
c.433-45C>G (n.433-45C>G)
c.218C>G (p.Ser73Cys)
c.-128-45C>G (n.-128-45C>G)
Xg.154031331G>TCA415174177MECP2c.497C>A (p.Ser166Tyr)
c.533C>A (p.Ser178Tyr)
c.65+65C>A
c.469-45C>A (n.469-45C>A)
n.2845C>A
c.483C>A (p.Leu161=)
c.485C>A (p.Ser162Tyr)
c.433-45C>A (n.433-45C>A)
c.218C>A (p.Ser73Tyr)
c.-128-45C>A (n.-128-45C>A)
Xg.154031332A>CCA415174178MECP2c.496T>G (p.Ser166Ala)
c.532T>G (p.Ser178Ala)
c.65+64T>G
c.469-46T>G (n.469-46T>G)
n.2844T>G
c.482T>G (p.Leu161Arg)
c.484T>G (p.Ser162Ala)
c.433-46T>G (n.433-46T>G)
c.217T>G (p.Ser73Ala)
c.-128-46T>G (n.-128-46T>G)
Xg.154031332A>GCA415174180MECP2c.496T>C (p.Ser166Pro)
c.532T>C (p.Ser178Pro)
c.65+64T>C
c.469-46T>C (n.469-46T>C)
n.2844T>C
c.482T>C (p.Leu161Pro)
c.484T>C (p.Ser162Pro)
c.433-46T>C (n.433-46T>C)
c.217T>C (p.Ser73Pro)
c.-128-46T>C (n.-128-46T>C)
Xg.154031332A>TCA415174184MECP2c.496T>A (p.Ser166Thr)
c.532T>A (p.Ser178Thr)
c.65+64T>A
c.469-46T>A (n.469-46T>A)
n.2844T>A
c.482T>A (p.Leu161His)
c.484T>A (p.Ser162Thr)
c.433-46T>A (n.433-46T>A)
c.217T>A (p.Ser73Thr)
c.-128-46T>A (n.-128-46T>A)
Xg.154031332_154031333delinsAGCA2466570972MECP2c.495_496delinsCT (p.Pro165=)
c.531_532delinsCT (p.Pro177=)
c.65+63_65+64delinsCT
c.469-47_469-46delinsCT (n.469-47_469-46delinsCT)
n.2843_2844delinsCT
c.481_482delinsCT (p.Leu161=)
c.483_484delinsCT (p.Pro161=)
c.433-47_433-46delinsCT (n.433-47_433-46delinsCT)
c.216_217delinsCT (p.Pro72=)
c.-128-47_-128-46delinsCT (n.-128-47_-128-46delinsCT)
Xg.154031333G>ACA10558603MECP2c.495C>T (p.Pro165=)
c.531C>T (p.Pro177=)
c.65+63C>T
c.469-47C>T (n.469-47C>T)
n.2843C>T
c.481C>T (p.Leu161Phe)
c.483C>T (p.Pro161=)
c.433-47C>T (n.433-47C>T)
c.216C>T (p.Pro72=)
c.-128-47C>T (n.-128-47C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031333G>CCA10558604MECP2c.495C>G (p.Pro165=)
c.531C>G (p.Pro177=)
c.65+63C>G
c.469-47C>G (n.469-47C>G)
n.2843C>G
c.481C>G (p.Leu161Val)
c.483C>G (p.Pro161=)
c.433-47C>G (n.433-47C>G)
c.216C>G (p.Pro72=)
c.-128-47C>G (n.-128-47C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154031333G=CA2466570973MECP2c.495C= (p.Pro165=)
c.531C= (p.Pro177=)
c.65+63C=
c.469-47C= (n.469-47C=)
n.2843C=
c.481C= (p.Leu161=)
c.483C= (p.Pro161=)
c.433-47C= (n.433-47C=)
c.216C= (p.Pro72=)
c.-128-47C= (n.-128-47C=)
Xg.154031333G>TCA415174192MECP2c.495C>A (p.Pro165=)
c.531C>A (p.Pro177=)
c.65+63C>A
c.469-47C>A (n.469-47C>A)
n.2843C>A
c.481C>A (p.Leu161Ile)
c.483C>A (p.Pro161=)
c.433-47C>A (n.433-47C>A)
c.216C>A (p.Pro72=)
c.-128-47C>A (n.-128-47C>A)
ClinVar
Xg.154031336delCA232978MECP2c.495del (p.Ser166ProfsTer?)
c.531del (p.Ser178ProfsTer?)
c.65+63del
c.469-47del (n.469-47del)
n.2843del
c.481del (p.Leu161SerfsTer?)
c.483del (p.Ser162ProfsTer?)
c.433-47del (n.433-47del)
c.216del (p.Ser73ProfsTer?)
c.-128-47del (n.-128-47del)
ClinVar dbSNP
Xg.154031334G>ACA415174237MECP2c.494C>T (p.Pro165Leu)
c.530C>T (p.Pro177Leu)
c.65+62C>T
c.469-48C>T (n.469-48C>T)
n.2842C>T
c.480C>T (p.Pro160=)
c.482C>T (p.Pro161Leu)
c.433-48C>T (n.433-48C>T)
c.215C>T (p.Pro72Leu)
c.-128-48C>T (n.-128-48C>T)
Xg.154031334G>CCA415174247MECP2c.494C>G (p.Pro165Arg)
c.530C>G (p.Pro177Arg)
c.65+62C>G
c.469-48C>G (n.469-48C>G)
n.2842C>G
c.480C>G (p.Pro160=)
c.482C>G (p.Pro161Arg)
c.433-48C>G (n.433-48C>G)
c.215C>G (p.Pro72Arg)
c.-128-48C>G (n.-128-48C>G)
Xg.154031334G>TCA415174251MECP2c.494C>A (p.Pro165His)
c.530C>A (p.Pro177His)
c.65+62C>A
c.469-48C>A (n.469-48C>A)
n.2842C>A
c.480C>A (p.Pro160=)
c.482C>A (p.Pro161His)
c.433-48C>A (n.433-48C>A)
c.215C>A (p.Pro72His)
c.-128-48C>A (n.-128-48C>A)
Xg.154031335G>ACA415174257MECP2c.493C>T (p.Pro165Ser)
c.529C>T (p.Pro177Ser)
c.65+61C>T
c.469-49C>T (n.469-49C>T)
n.2841C>T
c.479C>T (p.Pro160Leu)
c.481C>T (p.Pro161Ser)
c.433-49C>T (n.433-49C>T)
c.214C>T (p.Pro72Ser)
c.-128-49C>T (n.-128-49C>T)
ClinVar dbSNP
Xg.154031335G>CCA415174262MECP2c.493C>G (p.Pro165Ala)
c.529C>G (p.Pro177Ala)
c.65+61C>G
c.469-49C>G (n.469-49C>G)
n.2841C>G
c.479C>G (p.Pro160Arg)
c.481C>G (p.Pro161Ala)
c.433-49C>G (n.433-49C>G)
c.214C>G (p.Pro72Ala)
c.-128-49C>G (n.-128-49C>G)
Xg.154031335G>TCA415174254MECP2c.493C>A (p.Pro165Thr)
c.529C>A (p.Pro177Thr)
c.65+61C>A
c.469-49C>A (n.469-49C>A)
n.2841C>A
c.479C>A (p.Pro160His)
c.481C>A (p.Pro161Thr)
c.433-49C>A (n.433-49C>A)
c.214C>A (p.Pro72Thr)
c.-128-49C>A (n.-128-49C>A)
Xg.154031336G>ACA415174267MECP2c.492C>T (p.Ser164=)
c.528C>T (p.Ser176=)
c.65+60C>T
c.469-50C>T (n.469-50C>T)
n.2840C>T
c.478C>T (p.Pro160Ser)
c.480C>T (p.Ser160=)
c.433-50C>T (n.433-50C>T)
c.213C>T (p.Ser71=)
c.-128-50C>T (n.-128-50C>T)
ClinVar dbSNP
Xg.154031336G>CCA415174272MECP2c.492C>G (p.Ser164Arg)
c.528C>G (p.Ser176Arg)
c.65+60C>G
c.469-50C>G (n.469-50C>G)
n.2840C>G
c.478C>G (p.Pro160Ala)
c.480C>G (p.Ser160Arg)
c.433-50C>G (n.433-50C>G)
c.213C>G (p.Ser71Arg)
c.-128-50C>G (n.-128-50C>G)
Xg.154031336G=CA2466570974MECP2c.492C= (p.Ser164=)
c.528C= (p.Ser176=)
c.65+60C=
c.469-50C= (n.469-50C=)
n.2840C=
c.478C= (p.Pro160=)
c.480C= (p.Ser160=)
c.433-50C= (n.433-50C=)
c.213C= (p.Ser71=)
c.-128-50C= (n.-128-50C=)
Xg.154031336G>TCA415174268MECP2c.492C>A (p.Ser164Arg)
c.528C>A (p.Ser176Arg)
c.65+60C>A
c.469-50C>A (n.469-50C>A)
n.2840C>A
c.478C>A (p.Pro160Thr)
c.480C>A (p.Ser160Arg)
c.433-50C>A (n.433-50C>A)
c.213C>A (p.Ser71Arg)
c.-128-50C>A (n.-128-50C>A)
Xg.154031337C>ACA415174278MECP2c.491G>T (p.Ser164Ile)
c.527G>T (p.Ser176Ile)
c.65+59G>T
c.469-51G>T (n.469-51G>T)
n.2839G>T
c.477G>T (p.Glu159Asp)
c.479G>T (p.Ser160Ile)
c.433-51G>T (n.433-51G>T)
c.212G>T (p.Ser71Ile)
c.-128-51G>T (n.-128-51G>T)
Xg.154031337C>GCA415174308MECP2c.491G>C (p.Ser164Thr)
c.527G>C (p.Ser176Thr)
c.65+59G>C
c.469-51G>C (n.469-51G>C)
n.2839G>C
c.477G>C (p.Glu159Asp)
c.479G>C (p.Ser160Thr)
c.433-51G>C (n.433-51G>C)
c.212G>C (p.Ser71Thr)
c.-128-51G>C (n.-128-51G>C)
Xg.154031337C>TCA415174281MECP2c.491G>A (p.Ser164Asn)
c.527G>A (p.Ser176Asn)
c.65+59G>A
c.469-51G>A (n.469-51G>A)
n.2839G>A
c.477G>A (p.Glu159=)
c.479G>A (p.Ser160Asn)
c.433-51G>A (n.433-51G>A)
c.212G>A (p.Ser71Asn)
c.-128-51G>A (n.-128-51G>A)
Xg.154031338T>ACA415174311MECP2c.490A>T (p.Ser164Cys)
c.526A>T (p.Ser176Cys)
c.65+58A>T
c.469-52A>T (n.469-52A>T)
n.2838A>T
c.476A>T (p.Glu159Val)
c.478A>T (p.Ser160Cys)
c.433-52A>T (n.433-52A>T)
c.211A>T (p.Ser71Cys)
c.-128-52A>T (n.-128-52A>T)
Xg.154031338T>CCA415174319MECP2c.490A>G (p.Ser164Gly)
c.526A>G (p.Ser176Gly)
c.65+58A>G
c.469-52A>G (n.469-52A>G)
n.2838A>G
c.476A>G (p.Glu159Gly)
c.478A>G (p.Ser160Gly)
c.433-52A>G (n.433-52A>G)
c.211A>G (p.Ser71Gly)
c.-128-52A>G (n.-128-52A>G)
Xg.154031338T>GCA415174315MECP2c.490A>C (p.Ser164Arg)
c.526A>C (p.Ser176Arg)
c.65+58A>C
c.469-52A>C (n.469-52A>C)
n.2838A>C
c.476A>C (p.Glu159Ala)
c.478A>C (p.Ser160Arg)
c.433-52A>C (n.433-52A>C)
c.211A>C (p.Ser71Arg)
c.-128-52A>C (n.-128-52A>C)
Xg.154031338_154031340delinsTCCCA2466570975MECP2c.488_490delinsGGA (p.Gly163=)
c.524_526delinsGGA (p.Gly175=)
c.65+56_65+58delinsGGA
c.469-54_469-52delinsGGA (n.469-54_469-52delinsGGA)
n.2836_2838delinsGGA
c.474_476delinsGGA (p.Arg158=)
c.476_478delinsGGA (p.Gly159=)
c.433-54_433-52delinsGGA (n.433-54_433-52delinsGGA)
c.209_211delinsGGA (p.Gly70=)
c.-128-54_-128-52delinsGGA (n.-128-54_-128-52delinsGGA)
Xg.154031339C>ACA415174326MECP2c.489G>T (p.Gly163=)
c.525G>T (p.Gly175=)
c.65+57G>T
c.469-53G>T (n.469-53G>T)
n.2837G>T
c.475G>T (p.Glu159Ter)
c.477G>T (p.Gly159=)
c.433-53G>T (n.433-53G>T)
c.210G>T (p.Gly70=)
c.-128-53G>T (n.-128-53G>T)
dbSNP
Xg.154031339C=CA2466570976MECP2c.489G= (p.Gly163=)
c.525G= (p.Gly175=)
c.65+57G=
c.469-53G= (n.469-53G=)
n.2837G=
c.475G= (p.Glu159=)
c.477G= (p.Gly159=)
c.433-53G= (n.433-53G=)
c.210G= (p.Gly70=)
c.-128-53G= (n.-128-53G=)
Xg.154031339C>GCA415174329MECP2c.489G>C (p.Gly163=)
c.525G>C (p.Gly175=)
c.65+57G>C
c.469-53G>C (n.469-53G>C)
n.2837G>C
c.475G>C (p.Glu159Gln)
c.477G>C (p.Gly159=)
c.433-53G>C (n.433-53G>C)
c.210G>C (p.Gly70=)
c.-128-53G>C (n.-128-53G>C)
ClinVar
Xg.154031339C>TCA415174331MECP2c.489G>A (p.Gly163=)
c.525G>A (p.Gly175=)
c.65+57G>A
c.469-53G>A (n.469-53G>A)
n.2837G>A
c.475G>A (p.Glu159Lys)
c.477G>A (p.Gly159=)
c.433-53G>A (n.433-53G>A)
c.210G>A (p.Gly70=)
c.-128-53G>A (n.-128-53G>A)
ClinVar
Xg.154031340_154031341delCA270453MECP2c.488_489del (p.Gly163GlufsTer11)
c.524_525del (p.Gly175GlufsTer11)
c.65+56_65+57del
c.469-54_469-53del (n.469-54_469-53del)
n.2836_2837del
c.474_475del (p.Glu159AlafsTer?)
c.476_477del (p.Gly159GlufsTer11)
c.433-54_433-53del (n.433-54_433-53del)
c.209_210del (p.Gly70GlufsTer11)
c.-128-54_-128-53del (n.-128-54_-128-53del)
ClinVar dbSNP
Xg.154031340C>ACA415174349MECP2c.488G>T (p.Gly163Val)
c.524G>T (p.Gly175Val)
c.65+56G>T
c.469-54G>T (n.469-54G>T)
n.2836G>T
c.474G>T (p.Arg158Ser)
c.476G>T (p.Gly159Val)
c.433-54G>T (n.433-54G>T)
c.209G>T (p.Gly70Val)
c.-128-54G>T (n.-128-54G>T)
Xg.154031340C>GCA415174355MECP2c.488G>C (p.Gly163Ala)
c.524G>C (p.Gly175Ala)
c.65+56G>C
c.469-54G>C (n.469-54G>C)
n.2836G>C
c.474G>C (p.Arg158Ser)
c.476G>C (p.Gly159Ala)
c.433-54G>C (n.433-54G>C)
c.209G>C (p.Gly70Ala)
c.-128-54G>C (n.-128-54G>C)
Xg.154031340C>TCA415174357MECP2c.488G>A (p.Gly163Glu)
c.524G>A (p.Gly175Glu)
c.65+56G>A
c.469-54G>A (n.469-54G>A)
n.2836G>A
c.474G>A (p.Arg158=)
c.476G>A (p.Gly159Glu)
c.433-54G>A (n.433-54G>A)
c.209G>A (p.Gly70Glu)
c.-128-54G>A (n.-128-54G>A)
Xg.154031341C>ACA415174358MECP2c.487G>T (p.Gly163Trp)
c.523G>T (p.Gly175Trp)
c.65+55G>T
c.469-55G>T (n.469-55G>T)
n.2835G>T
c.473G>T (p.Arg158Met)
c.475G>T (p.Gly159Trp)
c.433-55G>T (n.433-55G>T)
c.208G>T (p.Gly70Trp)
c.-128-55G>T (n.-128-55G>T)
ClinVar dbSNP
Xg.154031341C=CA2466570977MECP2c.487G= (p.Gly163=)
c.523G= (p.Gly175=)
c.65+55G=
c.469-55G= (n.469-55G=)
n.2835G=
c.473G= (p.Arg158=)
c.475G= (p.Gly159=)
c.433-55G= (n.433-55G=)
c.208G= (p.Gly70=)
c.-128-55G= (n.-128-55G=)
Xg.154031341C>GCA415174360MECP2c.487G>C (p.Gly163Arg)
c.523G>C (p.Gly175Arg)
c.65+55G>C
c.469-55G>C (n.469-55G>C)
n.2835G>C
c.473G>C (p.Arg158Thr)
c.475G>C (p.Gly159Arg)
c.433-55G>C (n.433-55G>C)
c.208G>C (p.Gly70Arg)
c.-128-55G>C (n.-128-55G>C)
gnomAD v4
Xg.154031341C>TCA415174362MECP2c.487G>A (p.Gly163Arg)
c.523G>A (p.Gly175Arg)
c.65+55G>A
c.469-55G>A (n.469-55G>A)
n.2835G>A
c.473G>A (p.Arg158Lys)
c.475G>A (p.Gly159Arg)
c.433-55G>A (n.433-55G>A)
c.208G>A (p.Gly70Arg)
c.-128-55G>A (n.-128-55G>A)
gnomAD v3 gnomAD v4
Xg.154031342T>ACA415174365MECP2c.486A>T (p.Arg162Ser)
c.522A>T (p.Arg174Ser)
c.65+54A>T
c.468+54A>T (n.468+54A>T)
n.2834A>T
c.472A>T (p.Arg158Trp)
c.474A>T (p.Arg158Ser)
c.432+54A>T (n.432+54A>T)
c.207A>T (p.Arg69Ser)
c.-129+54A>T (n.-129+54A>T)
Xg.154031342T>CCA415174372MECP2c.486A>G (p.Arg162=)
c.522A>G (p.Arg174=)
c.65+54A>G
c.468+54A>G (n.468+54A>G)
n.2834A>G
c.472A>G (p.Arg158Gly)
c.474A>G (p.Arg158=)
c.432+54A>G (n.432+54A>G)
c.207A>G (p.Arg69=)
c.-129+54A>G (n.-129+54A>G)
Xg.154031342T>GCA415174367MECP2c.486A>C (p.Arg162Ser)
c.522A>C (p.Arg174Ser)
c.65+54A>C
c.468+54A>C (n.468+54A>C)
n.2834A>C
c.472A>C (p.Arg158=)
c.474A>C (p.Arg158Ser)
c.432+54A>C (n.432+54A>C)
c.207A>C (p.Arg69Ser)
c.-129+54A>C (n.-129+54A>C)
Xg.154031343C>ACA415174378MECP2c.485G>T (p.Arg162Ile)
c.521G>T (p.Arg174Ile)
c.65+53G>T
c.468+53G>T (n.468+53G>T)
n.2833G>T
c.472-1G>T (n.472-1G>T)
c.473G>T (p.Arg158Ile)
c.432+53G>T (n.432+53G>T)
c.206G>T (p.Arg69Ile)
c.-129+53G>T (n.-129+53G>T)
Xg.154031343C=CA2466570978MECP2c.485G= (p.Arg162=)
c.521G= (p.Arg174=)
c.65+53G=
c.468+53G= (n.468+53G=)
n.2833G=
c.472-1G= (n.472-1G=)
c.473G= (p.Arg158=)
c.432+53G= (n.432+53G=)
c.206G= (p.Arg69=)
c.-129+53G= (n.-129+53G=)
Xg.154031343C>GCA415174379MECP2c.485G>C (p.Arg162Thr)
c.521G>C (p.Arg174Thr)
c.65+53G>C
c.468+53G>C (n.468+53G>C)
n.2833G>C
c.472-1G>C (n.472-1G>C)
c.473G>C (p.Arg158Thr)
c.432+53G>C (n.432+53G>C)
c.206G>C (p.Arg69Thr)
c.-129+53G>C (n.-129+53G>C)
Xg.154031343C>TCA415174381MECP2c.485G>A (p.Arg162Lys)
c.521G>A (p.Arg174Lys)
c.65+53G>A
c.468+53G>A (n.468+53G>A)
n.2833G>A
c.472-1G>A (n.472-1G>A)
c.473G>A (p.Arg158Lys)
c.432+53G>A (n.432+53G>A)
c.206G>A (p.Arg69Lys)
c.-129+53G>A (n.-129+53G>A)
Xg.154031344_154031346delCA2579736360MECP2c.483_485del (p.Arg162del)
c.519_521del (p.Arg174del)
c.65+51_65+53del
c.468+51_468+53del (n.468+51_468+53del)
n.2831_2833del
c.471_472-1del
c.471_473del (p.Arg158del)
c.432+51_432+53del (n.432+51_432+53del)
c.204_206del (p.Arg69del)
c.-129+51_-129+53del (n.-129+51_-129+53del)
Xg.154031344T>ACA415174386MECP2c.484A>T (p.Arg162Ter)
c.520A>T (p.Arg174Ter)
c.65+52A>T
c.468+52A>T (n.468+52A>T)
n.2832A>T
c.472-2A>T (n.472-2A>T)
c.472A>T (p.Arg158Ter)
c.432+52A>T (n.432+52A>T)
c.205A>T (p.Arg69Ter)
c.-129+52A>T (n.-129+52A>T)
Xg.154031344T>CCA273728MECP2c.484A>G (p.Arg162Gly)
c.520A>G (p.Arg174Gly)
c.65+52A>G
c.468+52A>G (n.468+52A>G)
n.2832A>G
c.472-2A>G (n.472-2A>G)
c.472A>G (p.Arg158Gly)
c.432+52A>G (n.432+52A>G)
c.205A>G (p.Arg69Gly)
c.-129+52A>G (n.-129+52A>G)
ClinVar dbSNP
Xg.154031344T>GCA415174393MECP2c.484A>C (p.Arg162=)
c.520A>C (p.Arg174=)
c.65+52A>C
c.468+52A>C (n.468+52A>C)
n.2832A>C
c.472-2A>C (n.472-2A>C)
c.472A>C (p.Arg158=)
c.432+52A>C (n.432+52A>C)
c.205A>C (p.Arg69=)
c.-129+52A>C (n.-129+52A>C)
Xg.154031344T=CA2466570980MECP2c.484A= (p.Arg162=)
c.520A= (p.Arg174=)
c.65+52A=
c.468+52A= (n.468+52A=)
n.2832A=
c.472-2A= (n.472-2A=)
c.472A= (p.Arg158=)
c.432+52A= (n.432+52A=)
c.205A= (p.Arg69=)
c.-129+52A= (n.-129+52A=)
Xg.154031344dupCA270452MECP2c.484dup (p.Arg162LysfsTer13)
c.520dup (p.Arg174LysfsTer13)
c.65+52dup
c.468+52dup (n.468+52dup)
n.2832dup
c.472-2dup (n.472-2dup)
c.472dup (p.Arg158LysfsTer13)
c.432+52dup (n.432+52dup)
c.205dup (p.Arg69LysfsTer13)
c.-129+52dup (n.-129+52dup)
ClinVar dbSNP
Xg.154031344_154031345delinsTCCA2466570979MECP2c.483_484delinsGA (p.Gly161=)
c.519_520delinsGA (p.Gly173=)
c.65+51_65+52delinsGA
c.468+51_468+52delinsGA (n.468+51_468+52delinsGA)
n.2831_2832delinsGA
c.471_472-2delinsGA
c.471_472delinsGA (p.Gly157=)
c.432+51_432+52delinsGA (n.432+51_432+52delinsGA)
c.204_205delinsGA (p.Gly68=)
c.-129+51_-129+52delinsGA (n.-129+51_-129+52delinsGA)
Xg.154031345C>ACA519705585MECP2c.483G>T (p.Gly161=)
c.519G>T (p.Gly173=)
c.65+51G>T
c.468+51G>T (n.468+51G>T)
n.2831G>T
c.471G>T (p.Gly157=)
c.432+51G>T (n.432+51G>T)
c.204G>T (p.Gly68=)
c.-129+51G>T (n.-129+51G>T)
gnomAD v4
Xg.154031345C>GCA519705588MECP2c.483G>C (p.Gly161=)
c.519G>C (p.Gly173=)
c.65+51G>C
c.468+51G>C (n.468+51G>C)
n.2831G>C
c.471G>C (p.Gly157=)
c.432+51G>C (n.432+51G>C)
c.204G>C (p.Gly68=)
c.-129+51G>C (n.-129+51G>C)
Xg.154031345C>TCA519705591MECP2c.483G>A (p.Gly161=)
c.519G>A (p.Gly173=)
c.65+51G>A
c.468+51G>A (n.468+51G>A)
n.2831G>A
c.471G>A (p.Gly157=)
c.432+51G>A (n.432+51G>A)
c.204G>A (p.Gly68=)
c.-129+51G>A (n.-129+51G>A)
Xg.154031347delCA270451MECP2c.483del (p.Arg162GlufsTer?)
c.519del (p.Arg174GlufsTer?)
c.65+51del
c.468+51del (n.468+51del)
n.2831del
c.471del (p.Arg158GlyfsTer?)
c.471del (p.Arg158GlufsTer?)
c.432+51del (n.432+51del)
c.204del (p.Arg69GlufsTer?)
c.-129+51del (n.-129+51del)
ClinVar dbSNP
Xg.154031346C>ACA270449MECP2c.482G>T (p.Gly161Val)
c.518G>T (p.Gly173Val)
c.65+50G>T
c.468+50G>T (n.468+50G>T)
n.2830G>T
c.470G>T (p.Gly157Val)
c.432+50G>T (n.432+50G>T)
c.203G>T (p.Gly68Val)
c.-129+50G>T (n.-129+50G>T)
ClinVar dbSNP
Xg.154031346C=CA2466570982MECP2c.482G= (p.Gly161=)
c.518G= (p.Gly173=)
c.65+50G=
c.468+50G= (n.468+50G=)
n.2830G=
c.470G= (p.Gly157=)
c.432+50G= (n.432+50G=)
c.203G= (p.Gly68=)
c.-129+50G= (n.-129+50G=)
Xg.154031346C>GCA415174415MECP2c.482G>C (p.Gly161Ala)
c.518G>C (p.Gly173Ala)
c.65+50G>C
c.468+50G>C (n.468+50G>C)
n.2830G>C
c.470G>C (p.Gly157Ala)
c.432+50G>C (n.432+50G>C)
c.203G>C (p.Gly68Ala)
c.-129+50G>C (n.-129+50G>C)
Xg.154031346C>TCA270446MECP2c.482G>A (p.Gly161Glu)
c.518G>A (p.Gly173Glu)
c.65+50G>A
c.468+50G>A (n.468+50G>A)
n.2830G>A
c.470G>A (p.Gly157Glu)
c.432+50G>A (n.432+50G>A)
c.203G>A (p.Gly68Glu)
c.-129+50G>A (n.-129+50G>A)
ClinVar dbSNP
Xg.154031346_154031348delinsCCACA2466570981MECP2c.480_482delinsTGG (p.Thr160=)
c.516_518delinsTGG (p.Thr172=)
c.65+48_65+50delinsTGG
c.468+48_468+50delinsTGG (n.468+48_468+50delinsTGG)
n.2828_2830delinsTGG
c.468_470delinsTGG (p.Thr156=)
c.432+48_432+50delinsTGG (n.432+48_432+50delinsTGG)
c.201_203delinsTGG (p.Thr67=)
c.-129+48_-129+50delinsTGG (n.-129+48_-129+50delinsTGG)
Xg.154031347C>ACA270443MECP2c.481G>T (p.Gly161Trp)
c.517G>T (p.Gly173Trp)
c.65+49G>T
c.468+49G>T (n.468+49G>T)
n.2829G>T
c.469G>T (p.Gly157Trp)
c.432+49G>T (n.432+49G>T)
c.202G>T (p.Gly68Trp)
c.-129+49G>T (n.-129+49G>T)
ClinVar dbSNP
Xg.154031347C=CA2466570984MECP2c.481G= (p.Gly161=)
c.517G= (p.Gly173=)
c.65+49G=
c.468+49G= (n.468+49G=)
n.2829G=
c.469G= (p.Gly157=)
c.432+49G= (n.432+49G=)
c.202G= (p.Gly68=)
c.-129+49G= (n.-129+49G=)
Xg.154031347C>GCA415174423MECP2c.481G>C (p.Gly161Arg)
c.517G>C (p.Gly173Arg)
c.65+49G>C
c.468+49G>C (n.468+49G>C)
n.2829G>C
c.469G>C (p.Gly157Arg)
c.432+49G>C (n.432+49G>C)
c.202G>C (p.Gly68Arg)
c.-129+49G>C (n.-129+49G>C)
Xg.154031347C>TCA415174425MECP2c.481G>A (p.Gly161Arg)
c.517G>A (p.Gly173Arg)
c.65+49G>A
c.468+49G>A (n.468+49G>A)
n.2829G>A
c.469G>A (p.Gly157Arg)
c.432+49G>A (n.432+49G>A)
c.202G>A (p.Gly68Arg)
c.-129+49G>A (n.-129+49G>A)
Xg.154031347_154031348delCA270441MECP2c.480_481del (p.Gly161GlufsTer13)
c.516_517del (p.Gly173GlufsTer13)
c.65+48_65+49del
c.468+48_468+49del (n.468+48_468+49del)
n.2828_2829del
c.468_469del (p.Gly157GlufsTer?)
c.468_469del (p.Gly157GlufsTer13)
c.432+48_432+49del (n.432+48_432+49del)
c.201_202del (p.Gly68GlufsTer13)
c.-129+48_-129+49del (n.-129+48_-129+49del)
ClinVar dbSNP
Xg.154031347_154031348delinsCACA2466570983MECP2c.480_481delinsTG (p.Thr160=)
c.516_517delinsTG (p.Thr172=)
c.65+48_65+49delinsTG
c.468+48_468+49delinsTG (n.468+48_468+49delinsTG)
n.2828_2829delinsTG
c.468_469delinsTG (p.Thr156=)
c.432+48_432+49delinsTG (n.432+48_432+49delinsTG)
c.201_202delinsTG (p.Thr67=)
c.-129+48_-129+49delinsTG (n.-129+48_-129+49delinsTG)
Xg.154031347_154035447delCA891863116MECP2c.27-2890_481del
c.63-2890_517del
c.63-2890_468+49del
n.2375-2890_2829del
c.15-2890_469del
c.27-2890_432+49del
c.-253-2890_202del
c.-534-2890_-129+49del
ClinVar
Xg.154031348delCA270442MECP2c.480del (p.Arg162GlufsTer?)
c.516del (p.Arg174GlufsTer?)
c.65+48del
c.468+48del (n.468+48del)
n.2828del
c.468del (p.Arg158GlyfsTer?)
c.468del (p.Arg158GlufsTer?)
c.432+48del (n.432+48del)
c.201del (p.Arg69GlufsTer?)
c.-129+48del (n.-129+48del)
ClinVar dbSNP
Xg.154031348A>CCA519705596MECP2c.480T>G (p.Thr160=)
c.516T>G (p.Thr172=)
c.65+48T>G
c.468+48T>G (n.468+48T>G)
n.2828T>G
c.468T>G (p.Thr156=)
c.432+48T>G (n.432+48T>G)
c.201T>G (p.Thr67=)
c.-129+48T>G (n.-129+48T>G)
Xg.154031348A>GCA519705598MECP2c.480T>C (p.Thr160=)
c.516T>C (p.Thr172=)
c.65+48T>C
c.468+48T>C (n.468+48T>C)
n.2828T>C
c.468T>C (p.Thr156=)
c.432+48T>C (n.432+48T>C)
c.201T>C (p.Thr67=)
c.-129+48T>C (n.-129+48T>C)
Xg.154031348A>TCA519705599MECP2c.480T>A (p.Thr160=)
c.516T>A (p.Thr172=)
c.65+48T>A
c.468+48T>A (n.468+48T>A)
n.2828T>A
c.468T>A (p.Thr156=)
c.432+48T>A (n.432+48T>A)
c.201T>A (p.Thr67=)
c.-129+48T>A (n.-129+48T>A)
Xg.154031349G>ACA415174433MECP2c.479C>T (p.Thr160Ile)
c.515C>T (p.Thr172Ile)
c.65+47C>T
c.468+47C>T (n.468+47C>T)
n.2827C>T
c.467C>T (p.Thr156Ile)
c.432+47C>T (n.432+47C>T)
c.200C>T (p.Thr67Ile)
c.-129+47C>T (n.-129+47C>T)
gnomAD v4
Xg.154031349G>CCA170305MECP2c.479C>G (p.Thr160Ser)
c.515C>G (p.Thr172Ser)
c.65+47C>G
c.468+47C>G (n.468+47C>G)
n.2827C>G
c.467C>G (p.Thr156Ser)
c.432+47C>G (n.432+47C>G)
c.200C>G (p.Thr67Ser)
c.-129+47C>G (n.-129+47C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031349G=CA2466570985MECP2c.479C= (p.Thr160=)
c.515C= (p.Thr172=)
c.65+47C=
c.468+47C= (n.468+47C=)
n.2827C=
c.467C= (p.Thr156=)
c.432+47C= (n.432+47C=)
c.200C= (p.Thr67=)
c.-129+47C= (n.-129+47C=)
Xg.154031349G>TCA415174434MECP2c.479C>A (p.Thr160Asn)
c.515C>A (p.Thr172Asn)
c.65+47C>A
c.468+47C>A (n.468+47C>A)
n.2827C>A
c.467C>A (p.Thr156Asn)
c.432+47C>A (n.432+47C>A)
c.200C>A (p.Thr67Asn)
c.-129+47C>A (n.-129+47C>A)
ClinVar
Xg.154031350T>ACA415174438MECP2c.478A>T (p.Thr160Ser)
c.514A>T (p.Thr172Ser)
c.65+46A>T
c.468+46A>T (n.468+46A>T)
n.2826A>T
c.466A>T (p.Thr156Ser)
c.432+46A>T (n.432+46A>T)
c.199A>T (p.Thr67Ser)
c.-129+46A>T (n.-129+46A>T)
Xg.154031350T>CCA415174442MECP2c.478A>G (p.Thr160Ala)
c.514A>G (p.Thr172Ala)
c.65+46A>G
c.468+46A>G (n.468+46A>G)
n.2826A>G
c.466A>G (p.Thr156Ala)
c.432+46A>G (n.432+46A>G)
c.199A>G (p.Thr67Ala)
c.-129+46A>G (n.-129+46A>G)
Xg.154031350T>GCA415174444MECP2c.478A>C (p.Thr160Pro)
c.514A>C (p.Thr172Pro)
c.65+46A>C
c.468+46A>C (n.468+46A>C)
n.2826A>C
c.466A>C (p.Thr156Pro)
c.432+46A>C (n.432+46A>C)
c.199A>C (p.Thr67Pro)
c.-129+46A>C (n.-129+46A>C)
Xg.154031351dupCA2695202118MECP2c.478dup (p.Thr160AsnfsTer15)
c.514dup (p.Thr172AsnfsTer15)
c.65+46dup
c.468+46dup (n.468+46dup)
n.2826dup
c.466dup (p.Thr156AsnfsTer?)
c.466dup (p.Thr156AsnfsTer15)
c.432+46dup (n.432+46dup)
c.199dup (p.Thr67AsnfsTer15)
c.-129+46dup (n.-129+46dup)
ClinVar
Xg.154031351T>ACA519705604MECP2c.477A>T (p.Val159=)
c.513A>T (p.Val171=)
c.65+45A>T
c.468+45A>T (n.468+45A>T)
n.2825A>T
c.465A>T (p.Val155=)
c.432+45A>T (n.432+45A>T)
c.198A>T (p.Val66=)
c.-129+45A>T (n.-129+45A>T)
Xg.154031351T>CCA519705605MECP2c.477A>G (p.Val159=)
c.513A>G (p.Val171=)
c.65+45A>G
c.468+45A>G (n.468+45A>G)
n.2825A>G
c.465A>G (p.Val155=)
c.432+45A>G (n.432+45A>G)
c.198A>G (p.Val66=)
c.-129+45A>G (n.-129+45A>G)
Xg.154031351T>GCA519705606MECP2c.477A>C (p.Val159=)
c.513A>C (p.Val171=)
c.65+45A>C
c.468+45A>C (n.468+45A>C)
n.2825A>C
c.465A>C (p.Val155=)
c.432+45A>C (n.432+45A>C)
c.198A>C (p.Val66=)
c.-129+45A>C (n.-129+45A>C)
gnomAD v4
Xg.154031352A>CCA415174457MECP2c.476T>G (p.Val159Gly)
c.512T>G (p.Val171Gly)
c.65+44T>G
c.468+44T>G (n.468+44T>G)
n.2824T>G
c.464T>G (p.Val155Gly)
c.432+44T>G (n.432+44T>G)
c.197T>G (p.Val66Gly)
c.-129+44T>G (n.-129+44T>G)
Xg.154031352A>GCA415174448MECP2c.476T>C (p.Val159Ala)
c.512T>C (p.Val171Ala)
c.65+44T>C
c.468+44T>C (n.468+44T>C)
n.2824T>C
c.464T>C (p.Val155Ala)
c.432+44T>C (n.432+44T>C)
c.197T>C (p.Val66Ala)
c.-129+44T>C (n.-129+44T>C)
Xg.154031352A>TCA415174452MECP2c.476T>A (p.Val159Glu)
c.512T>A (p.Val171Glu)
c.65+44T>A
c.468+44T>A (n.468+44T>A)
n.2824T>A
c.464T>A (p.Val155Glu)
c.432+44T>A (n.432+44T>A)
c.197T>A (p.Val66Glu)
c.-129+44T>A (n.-129+44T>A)
Xg.154031352_154031353delinsACCA2466570986MECP2c.475_476delinsGT (p.Val159=)
c.511_512delinsGT (p.Val171=)
c.65+43_65+44delinsGT
c.468+43_468+44delinsGT (n.468+43_468+44delinsGT)
n.2823_2824delinsGT
c.463_464delinsGT (p.Val155=)
c.432+43_432+44delinsGT (n.432+43_432+44delinsGT)
c.196_197delinsGT (p.Val66=)
c.-129+43_-129+44delinsGT (n.-129+43_-129+44delinsGT)
Xg.154031353C>ACA415174469MECP2c.475G>T (p.Val159Leu)
c.511G>T (p.Val171Leu)
c.65+43G>T
c.468+43G>T (n.468+43G>T)
n.2823G>T
c.463G>T (p.Val155Leu)
c.432+43G>T (n.432+43G>T)
c.196G>T (p.Val66Leu)
c.-129+43G>T (n.-129+43G>T)
Xg.154031353C>GCA415174473MECP2c.475G>C (p.Val159Leu)
c.511G>C (p.Val171Leu)
c.65+43G>C
c.468+43G>C (n.468+43G>C)
n.2823G>C
c.463G>C (p.Val155Leu)
c.432+43G>C (n.432+43G>C)
c.196G>C (p.Val66Leu)
c.-129+43G>C (n.-129+43G>C)
Xg.154031353C>TCA415174475MECP2c.475G>A (p.Val159Ile)
c.511G>A (p.Val171Ile)
c.65+43G>A
c.468+43G>A (n.468+43G>A)
n.2823G>A
c.463G>A (p.Val155Ile)
c.432+43G>A (n.432+43G>A)
c.196G>A (p.Val66Ile)
c.-129+43G>A (n.-129+43G>A)
COSMIC
Xg.154031354delCA270440MECP2c.475del (p.Val159Ter)
c.511del (p.Val171Ter)
c.65+43del
c.468+43del (n.468+43del)
n.2823del
c.463del (p.Val155Ter)
c.432+43del (n.432+43del)
c.196del (p.Val66Ter)
c.-129+43del (n.-129+43del)
ClinVar dbSNP
Xg.154031354C>ACA519705610MECP2c.474G>T (p.Thr158=)
c.510G>T (p.Thr170=)
c.65+42G>T
c.468+42G>T (n.468+42G>T)
n.2822G>T
c.462G>T (p.Thr154=)
c.432+42G>T (n.432+42G>T)
c.195G>T (p.Thr65=)
c.-129+42G>T (n.-129+42G>T)
ClinVar gnomAD v4
Xg.154031354C=CA2466570987MECP2c.474G= (p.Thr158=)
c.510G= (p.Thr170=)
c.65+42G=
c.468+42G= (n.468+42G=)
n.2822G=
c.462G= (p.Thr154=)
c.432+42G= (n.432+42G=)
c.195G= (p.Thr65=)
c.-129+42G= (n.-129+42G=)
Xg.154031354C>GCA519705613MECP2c.474G>C (p.Thr158=)
c.510G>C (p.Thr170=)
c.65+42G>C
c.468+42G>C (n.468+42G>C)
n.2822G>C
c.462G>C (p.Thr154=)
c.432+42G>C (n.432+42G>C)
c.195G>C (p.Thr65=)
c.-129+42G>C (n.-129+42G>C)
dbSNP gnomAD v3 gnomAD v4
Xg.154031354C>TCA170302MECP2c.474G>A (p.Thr158=)
c.510G>A (p.Thr170=)
c.65+42G>A
c.468+42G>A (n.468+42G>A)
n.2822G>A
c.462G>A (p.Thr154=)
c.432+42G>A (n.432+42G>A)
c.195G>A (p.Thr65=)
c.-129+42G>A (n.-129+42G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031355G>ACA211252MECP2c.473C>T (p.Thr158Met)
c.509C>T (p.Thr170Met)
c.65+41C>T
c.468+41C>T (n.468+41C>T)
n.2821C>T
c.461C>T (p.Thr154Met)
c.432+41C>T (n.432+41C>T)
c.194C>T (p.Thr65Met)
c.-129+41C>T (n.-129+41C>T)
ClinVar dbSNP COSMIC
Xg.154031355G>CCA415174482MECP2c.473C>G (p.Thr158Arg)
c.509C>G (p.Thr170Arg)
c.65+41C>G
c.468+41C>G (n.468+41C>G)
n.2821C>G
c.461C>G (p.Thr154Arg)
c.432+41C>G (n.432+41C>G)
c.194C>G (p.Thr65Arg)
c.-129+41C>G (n.-129+41C>G)
ClinVar
Xg.154031355G=CA2466570988MECP2c.473C= (p.Thr158=)
c.509C= (p.Thr170=)
c.65+41C=
c.468+41C= (n.468+41C=)
n.2821C=
c.461C= (p.Thr154=)
c.432+41C= (n.432+41C=)
c.194C= (p.Thr65=)
c.-129+41C= (n.-129+41C=)
Xg.154031355G>TCA415174497MECP2c.473C>A (p.Thr158Lys)
c.509C>A (p.Thr170Lys)
c.65+41C>A
c.468+41C>A (n.468+41C>A)
n.2821C>A
c.461C>A (p.Thr154Lys)
c.432+41C>A (n.432+41C>A)
c.194C>A (p.Thr65Lys)
c.-129+41C>A (n.-129+41C>A)
ClinVar dbSNP
Xg.154031356T>ACA415174502MECP2c.472A>T (p.Thr158Ser)
c.508A>T (p.Thr170Ser)
c.65+40A>T
c.468+40A>T (n.468+40A>T)
n.2820A>T
c.460A>T (p.Thr154Ser)
c.432+40A>T (n.432+40A>T)
c.193A>T (p.Thr65Ser)
c.-129+40A>T (n.-129+40A>T)
Xg.154031356T>CCA270438MECP2c.472A>G (p.Thr158Ala)
c.508A>G (p.Thr170Ala)
c.65+40A>G
c.468+40A>G (n.468+40A>G)
n.2820A>G
c.460A>G (p.Thr154Ala)
c.432+40A>G (n.432+40A>G)
c.193A>G (p.Thr65Ala)
c.-129+40A>G (n.-129+40A>G)
ClinVar dbSNP
Xg.154031356T>GCA415174508MECP2c.472A>C (p.Thr158Pro)
c.508A>C (p.Thr170Pro)
c.65+40A>C
c.468+40A>C (n.468+40A>C)
n.2820A>C
c.460A>C (p.Thr154Pro)
c.432+40A>C (n.432+40A>C)
c.193A>C (p.Thr65Pro)
c.-129+40A>C (n.-129+40A>C)
Xg.154031356T=CA2466570989MECP2c.472A= (p.Thr158=)
c.508A= (p.Thr170=)
c.65+40A=
c.468+40A= (n.468+40A=)
n.2820A=
c.460A= (p.Thr154=)
c.432+40A= (n.432+40A=)
c.193A= (p.Thr65=)
c.-129+40A= (n.-129+40A=)
Xg.154031356_154031358delinsTGACA2466570990MECP2c.470_472delinsTCA (p.Phe157=)
c.506_508delinsTCA (p.Phe169=)
c.65+38_65+40delinsTCA
c.468+38_468+40delinsTCA (n.468+38_468+40delinsTCA)
n.2818_2820delinsTCA
c.458_460delinsTCA (p.Phe153=)
c.432+38_432+40delinsTCA (n.432+38_432+40delinsTCA)
c.191_193delinsTCA (p.Phe64=)
c.-129+38_-129+40delinsTCA (n.-129+38_-129+40delinsTCA)
Xg.154031357G>ACA519705617MECP2c.471C>T (p.Phe157=)
c.507C>T (p.Phe169=)
c.65+39C>T
c.468+39C>T (n.468+39C>T)
n.2819C>T
c.459C>T (p.Phe153=)
c.432+39C>T (n.432+39C>T)
c.192C>T (p.Phe64=)
c.-129+39C>T (n.-129+39C>T)
Xg.154031357G>CCA270435MECP2c.471C>G (p.Phe157Leu)
c.507C>G (p.Phe169Leu)
c.65+39C>G
c.468+39C>G (n.468+39C>G)
n.2819C>G
c.459C>G (p.Phe153Leu)
c.432+39C>G (n.432+39C>G)
c.192C>G (p.Phe64Leu)
c.-129+39C>G (n.-129+39C>G)
ClinVar dbSNP
Xg.154031357G=CA2466570991MECP2c.471C= (p.Phe157=)
c.507C= (p.Phe169=)
c.65+39C=
c.468+39C= (n.468+39C=)
n.2819C=
c.459C= (p.Phe153=)
c.432+39C= (n.432+39C=)
c.192C= (p.Phe64=)
c.-129+39C= (n.-129+39C=)
Xg.154031357G>TCA415174547MECP2c.471C>A (p.Phe157Leu)
c.507C>A (p.Phe169Leu)
c.65+39C>A
c.468+39C>A (n.468+39C>A)
n.2819C>A
c.459C>A (p.Phe153Leu)
c.432+39C>A (n.432+39C>A)
c.192C>A (p.Phe64Leu)
c.-129+39C>A (n.-129+39C>A)
ClinVar dbSNP
Xg.154031357_154031358delCA270433MECP2c.470_471del (p.Phe157TyrfsTer17)
c.506_507del (p.Phe169TyrfsTer17)
c.65+38_65+39del
c.468+38_468+39del (n.468+38_468+39del)
n.2818_2819del
c.458_459del (p.Phe153TyrfsTer?)
c.458_459del (p.Phe153TyrfsTer17)
c.432+38_432+39del (n.432+38_432+39del)
c.191_192del (p.Phe64TyrfsTer17)
c.-129+38_-129+39del (n.-129+38_-129+39del)
ClinVar dbSNP
Xg.154031358A>CCA415174551MECP2c.470T>G (p.Phe157Cys)
c.506T>G (p.Phe169Cys)
c.65+38T>G
c.468+38T>G (n.468+38T>G)
n.2818T>G
c.458T>G (p.Phe153Cys)
c.432+38T>G (n.432+38T>G)
c.191T>G (p.Phe64Cys)
c.-129+38T>G (n.-129+38T>G)
ClinVar
Xg.154031358A>GCA415174553MECP2c.470T>C (p.Phe157Ser)
c.506T>C (p.Phe169Ser)
c.65+38T>C
c.468+38T>C (n.468+38T>C)
n.2818T>C
c.458T>C (p.Phe153Ser)
c.432+38T>C (n.432+38T>C)
c.191T>C (p.Phe64Ser)
c.-129+38T>C (n.-129+38T>C)
Xg.154031358A>TCA415174558MECP2c.470T>A (p.Phe157Tyr)
c.506T>A (p.Phe169Tyr)
c.65+38T>A
c.468+38T>A (n.468+38T>A)
n.2818T>A
c.458T>A (p.Phe153Tyr)
c.432+38T>A (n.432+38T>A)
c.191T>A (p.Phe64Tyr)
c.-129+38T>A (n.-129+38T>A)
Xg.154031359dupCA270434MECP2c.470dup (p.Thr158HisfsTer17)
c.506dup (p.Thr170HisfsTer17)
c.65+38dup
c.468+38dup (n.468+38dup)
n.2818dup
c.458dup (p.Thr154HisfsTer?)
c.458dup (p.Thr154HisfsTer17)
c.432+38dup (n.432+38dup)
c.191dup (p.Thr65HisfsTer17)
c.-129+38dup (n.-129+38dup)
ClinVar dbSNP
Xg.154031360_154031364delCA2695237610MECP2c.466_470del (p.Asp156HisfsTer17)
c.502_506del (p.Asp168HisfsTer17)
c.65+34_65+38del
c.468+34_468+38del (n.468+34_468+38del)
n.2814_2818del
c.454_458del (p.Asp152HisfsTer?)
c.454_458del (p.Asp152HisfsTer17)
c.432+34_432+38del (n.432+34_432+38del)
c.187_191del (p.Asp63HisfsTer17)
c.-129+34_-129+38del (n.-129+34_-129+38del)
Xg.154031359A=CA2466570992MECP2c.469T= (p.Phe157=)
c.505T= (p.Phe169=)
c.65+37T=
c.468+37T= (n.468+37T=)
n.2817T=
c.457T= (p.Phe153=)
c.432+37T= (n.432+37T=)
c.190T= (p.Phe64=)
c.-129+37T= (n.-129+37T=)
Xg.154031359A>CCA415174565MECP2c.469T>G (p.Phe157Val)
c.505T>G (p.Phe169Val)
c.65+37T>G
c.468+37T>G (n.468+37T>G)
n.2817T>G
c.457T>G (p.Phe153Val)
c.432+37T>G (n.432+37T>G)
c.190T>G (p.Phe64Val)
c.-129+37T>G (n.-129+37T>G)
Xg.154031359A>GCA415174571MECP2c.469T>C (p.Phe157Leu)
c.505T>C (p.Phe169Leu)
c.65+37T>C
c.468+37T>C (n.468+37T>C)
n.2817T>C
c.457T>C (p.Phe153Leu)
c.432+37T>C (n.432+37T>C)
c.190T>C (p.Phe64Leu)
c.-129+37T>C (n.-129+37T>C)
Xg.154031359A>TCA274628MECP2c.469T>A (p.Phe157Ile)
c.505T>A (p.Phe169Ile)
c.65+37T>A
c.468+37T>A (n.468+37T>A)
n.2817T>A
c.457T>A (p.Phe153Ile)
c.432+37T>A (n.432+37T>A)
c.190T>A (p.Phe64Ile)
c.-129+37T>A (n.-129+37T>A)
ClinVar dbSNP
Xg.154031360G>ACA232972MECP2c.468C>T (p.Asp156=)
c.504C>T (p.Asp168=)
c.65+36C>T
c.468+36C>T (n.468+36C>T)
n.2816C>T
c.456C>T (p.Asp152=)
c.432+36C>T (n.432+36C>T)
c.189C>T (p.Asp63=)
c.-129+36C>T (n.-129+36C>T)
ClinVar dbSNP
Xg.154031360G>CCA202769MECP2c.468C>G (p.Asp156Glu)
c.504C>G (p.Asp168Glu)
c.65+36C>G
c.468+36C>G (n.468+36C>G)
n.2816C>G
c.456C>G (p.Asp152Glu)
c.432+36C>G (n.432+36C>G)
c.189C>G (p.Asp63Glu)
c.-129+36C>G (n.-129+36C>G)
ClinVar dbSNP
Xg.154031360G=CA2466570993MECP2c.468C= (p.Asp156=)
c.504C= (p.Asp168=)
c.65+36C=
c.468+36C= (n.468+36C=)
n.2816C=
c.456C= (p.Asp152=)
c.432+36C= (n.432+36C=)
c.189C= (p.Asp63=)
c.-129+36C= (n.-129+36C=)
Xg.154031360G>TCA16609353MECP2c.468C>A (p.Asp156Glu)
c.504C>A (p.Asp168Glu)
c.65+36C>A
c.468+36C>A (n.468+36C>A)
n.2816C>A
c.456C>A (p.Asp152Glu)
c.432+36C>A (n.432+36C>A)
c.189C>A (p.Asp63Glu)
c.-129+36C>A (n.-129+36C>A)
ClinVar dbSNP
Xg.154031360dupCA2695237611MECP2c.468dup (p.Phe157LeufsTer18)
c.504dup (p.Phe169LeufsTer18)
c.65+36dup
c.468+36dup (n.468+36dup)
n.2816dup
c.456dup (p.Phe153LeufsTer?)
c.456dup (p.Phe153LeufsTer18)
c.432+36dup (n.432+36dup)
c.189dup (p.Phe64LeufsTer18)
c.-129+36dup (n.-129+36dup)
Xg.154031361T>ACA415174585MECP2c.467A>T (p.Asp156Val)
c.503A>T (p.Asp168Val)
c.65+35A>T
c.468+35A>T (n.468+35A>T)
n.2815A>T
c.455A>T (p.Asp152Val)
c.432+35A>T (n.432+35A>T)
c.188A>T (p.Asp63Val)
c.-129+35A>T (n.-129+35A>T)
Xg.154031361T>CCA270431MECP2c.467A>G (p.Asp156Gly)
c.503A>G (p.Asp168Gly)
c.65+35A>G
c.468+35A>G (n.468+35A>G)
n.2815A>G
c.455A>G (p.Asp152Gly)
c.432+35A>G (n.432+35A>G)
c.188A>G (p.Asp63Gly)
c.-129+35A>G (n.-129+35A>G)
ClinVar dbSNP
Xg.154031361T>GCA270428MECP2c.467A>C (p.Asp156Ala)
c.503A>C (p.Asp168Ala)
c.65+35A>C
c.468+35A>C (n.468+35A>C)
n.2815A>C
c.455A>C (p.Asp152Ala)
c.432+35A>C (n.432+35A>C)
c.188A>C (p.Asp63Ala)
c.-129+35A>C (n.-129+35A>C)
ClinVar dbSNP
Xg.154031361T=CA2466570994MECP2c.467A= (p.Asp156=)
c.503A= (p.Asp168=)
c.65+35A=
c.468+35A= (n.468+35A=)
n.2815A=
c.455A= (p.Asp152=)
c.432+35A= (n.432+35A=)
c.188A= (p.Asp63=)
c.-129+35A= (n.-129+35A=)
Xg.154031362C>ACA415174595MECP2c.466G>T (p.Asp156Tyr)
c.502G>T (p.Asp168Tyr)
c.65+34G>T
c.468+34G>T (n.468+34G>T)
n.2814G>T
c.454G>T (p.Asp152Tyr)
c.432+34G>T (n.432+34G>T)
c.187G>T (p.Asp63Tyr)
c.-129+34G>T (n.-129+34G>T)
ClinVar dbSNP
Xg.154031362C=CA2466570995MECP2c.466G= (p.Asp156=)
c.502G= (p.Asp168=)
c.65+34G=
c.468+34G= (n.468+34G=)
n.2814G=
c.454G= (p.Asp152=)
c.432+34G= (n.432+34G=)
c.187G= (p.Asp63=)
c.-129+34G= (n.-129+34G=)
Xg.154031362C>GCA415174593MECP2c.466G>C (p.Asp156His)
c.502G>C (p.Asp168His)
c.65+34G>C
c.468+34G>C (n.468+34G>C)
n.2814G>C
c.454G>C (p.Asp152His)
c.432+34G>C (n.432+34G>C)
c.187G>C (p.Asp63His)
c.-129+34G>C (n.-129+34G>C)
Xg.154031362C>TCA415174594MECP2c.466G>A (p.Asp156Asn)
c.502G>A (p.Asp168Asn)
c.65+34G>A
c.468+34G>A (n.468+34G>A)
n.2814G>A
c.454G>A (p.Asp152Asn)
c.432+34G>A (n.432+34G>A)
c.187G>A (p.Asp63Asn)
c.-129+34G>A (n.-129+34G>A)
Xg.154031363A>CCA415174596MECP2c.465T>G (p.Phe155Leu)
c.501T>G (p.Phe167Leu)
c.65+33T>G
c.468+33T>G (n.468+33T>G)
n.2813T>G
c.453T>G (p.Phe151Leu)
c.432+33T>G (n.432+33T>G)
c.186T>G (p.Phe62Leu)
c.-129+33T>G (n.-129+33T>G)
Xg.154031363A>GCA519705622MECP2c.465T>C (p.Phe155=)
c.501T>C (p.Phe167=)
c.65+33T>C
c.468+33T>C (n.468+33T>C)
n.2813T>C
c.453T>C (p.Phe151=)
c.432+33T>C (n.432+33T>C)
c.186T>C (p.Phe62=)
c.-129+33T>C (n.-129+33T>C)
Xg.154031363A>TCA415174597MECP2c.465T>A (p.Phe155Leu)
c.501T>A (p.Phe167Leu)
c.65+33T>A
c.468+33T>A (n.468+33T>A)
n.2813T>A
c.453T>A (p.Phe151Leu)
c.432+33T>A (n.432+33T>A)
c.186T>A (p.Phe62Leu)
c.-129+33T>A (n.-129+33T>A)
Xg.154031364A=CA2466570996MECP2c.464T= (p.Phe155=)
c.500T= (p.Phe167=)
c.65+32T=
c.468+32T= (n.468+32T=)
n.2812T=
c.452T= (p.Phe151=)
c.432+32T= (n.432+32T=)
c.185T= (p.Phe62=)
c.-129+32T= (n.-129+32T=)
Xg.154031364A>CCA232969MECP2c.464T>G (p.Phe155Cys)
c.500T>G (p.Phe167Cys)
c.65+32T>G
c.468+32T>G (n.468+32T>G)
n.2812T>G
c.452T>G (p.Phe151Cys)
c.432+32T>G (n.432+32T>G)
c.185T>G (p.Phe62Cys)
c.-129+32T>G (n.-129+32T>G)
ClinVar dbSNP
Xg.154031364A>GCA256087MECP2c.464T>C (p.Phe155Ser)
c.500T>C (p.Phe167Ser)
c.65+32T>C
c.468+32T>C (n.468+32T>C)
n.2812T>C
c.452T>C (p.Phe151Ser)
c.432+32T>C (n.432+32T>C)
c.185T>C (p.Phe62Ser)
c.-129+32T>C (n.-129+32T>C)
ClinVar dbSNP
Xg.154031364A>TCA415174602MECP2c.464T>A (p.Phe155Tyr)
c.500T>A (p.Phe167Tyr)
c.65+32T>A
c.468+32T>A (n.468+32T>A)
n.2812T>A
c.452T>A (p.Phe151Tyr)
c.432+32T>A (n.432+32T>A)
c.185T>A (p.Phe62Tyr)
c.-129+32T>A (n.-129+32T>A)
Xg.154031365A=CA2466570997MECP2c.463T= (p.Phe155=)
c.499T= (p.Phe167=)
c.65+31T=
c.468+31T= (n.468+31T=)
n.2811T=
c.451T= (p.Phe151=)
c.432+31T= (n.432+31T=)
c.184T= (p.Phe62=)
c.-129+31T= (n.-129+31T=)
Xg.154031365A>CCA415174613MECP2c.463T>G (p.Phe155Val)
c.499T>G (p.Phe167Val)
c.65+31T>G
c.468+31T>G (n.468+31T>G)
n.2811T>G
c.451T>G (p.Phe151Val)
c.432+31T>G (n.432+31T>G)
c.184T>G (p.Phe62Val)
c.-129+31T>G (n.-129+31T>G)
Xg.154031365A>GCA415174625MECP2c.463T>C (p.Phe155Leu)
c.499T>C (p.Phe167Leu)
c.65+31T>C
c.468+31T>C (n.468+31T>C)
n.2811T>C
c.451T>C (p.Phe151Leu)
c.432+31T>C (n.432+31T>C)
c.184T>C (p.Phe62Leu)
c.-129+31T>C (n.-129+31T>C)
Xg.154031365A>TCA270426MECP2c.463T>A (p.Phe155Ile)
c.499T>A (p.Phe167Ile)
c.65+31T>A
c.468+31T>A (n.468+31T>A)
n.2811T>A
c.451T>A (p.Phe151Ile)
c.432+31T>A (n.432+31T>A)
c.184T>A (p.Phe62Ile)
c.-129+31T>A (n.-129+31T>A)
ClinVar dbSNP
Xg.154031366A>CCA415174628MECP2c.462T>G (p.Asp154Glu)
c.498T>G (p.Asp166Glu)
c.65+30T>G
c.468+30T>G (n.468+30T>G)
n.2810T>G
c.450T>G (p.Asp150Glu)
c.432+30T>G (n.432+30T>G)
c.183T>G (p.Asp61Glu)
c.-129+30T>G (n.-129+30T>G)
Xg.154031366A>GCA519705626MECP2c.462T>C (p.Asp154=)
c.498T>C (p.Asp166=)
c.65+30T>C
c.468+30T>C (n.468+30T>C)
n.2810T>C
c.450T>C (p.Asp150=)
c.432+30T>C (n.432+30T>C)
c.183T>C (p.Asp61=)
c.-129+30T>C (n.-129+30T>C)
Xg.154031366A>TCA415174629MECP2c.462T>A (p.Asp154Glu)
c.498T>A (p.Asp166Glu)
c.65+30T>A
c.468+30T>A (n.468+30T>A)
n.2810T>A
c.450T>A (p.Asp150Glu)
c.432+30T>A (n.432+30T>A)
c.183T>A (p.Asp61Glu)
c.-129+30T>A (n.-129+30T>A)
Xg.154031367T>ACA415174631MECP2c.461A>T (p.Asp154Val)
c.497A>T (p.Asp166Val)
c.65+29A>T
c.468+29A>T (n.468+29A>T)
n.2809A>T
c.449A>T (p.Asp150Val)
c.432+29A>T (n.432+29A>T)
c.182A>T (p.Asp61Val)
c.-129+29A>T (n.-129+29A>T)
Xg.154031367T>CCA337264466MECP2c.461A>G (p.Asp154Gly)
c.497A>G (p.Asp166Gly)
c.65+29A>G
c.468+29A>G (n.468+29A>G)
n.2809A>G
c.449A>G (p.Asp150Gly)
c.432+29A>G (n.432+29A>G)
c.182A>G (p.Asp61Gly)
c.-129+29A>G (n.-129+29A>G)
dbSNP COSMIC
Xg.154031367T>GCA415174630MECP2c.461A>C (p.Asp154Ala)
c.497A>C (p.Asp166Ala)
c.65+29A>C
c.468+29A>C (n.468+29A>C)
n.2809A>C
c.449A>C (p.Asp150Ala)
c.432+29A>C (n.432+29A>C)
c.182A>C (p.Asp61Ala)
c.-129+29A>C (n.-129+29A>C)
Xg.154031367T=CA2466570998MECP2c.461A= (p.Asp154=)
c.497A= (p.Asp166=)
c.65+29A=
c.468+29A= (n.468+29A=)
n.2809A=
c.449A= (p.Asp150=)
c.432+29A= (n.432+29A=)
c.182A= (p.Asp61=)
c.-129+29A= (n.-129+29A=)
Xg.154031368C>ACA415174632MECP2c.460G>T (p.Asp154Tyr)
c.496G>T (p.Asp166Tyr)
c.65+28G>T
c.468+28G>T (n.468+28G>T)
n.2808G>T
c.448G>T (p.Asp150Tyr)
c.432+28G>T (n.432+28G>T)
c.181G>T (p.Asp61Tyr)
c.-129+28G>T (n.-129+28G>T)
Xg.154031368C>GCA415174633MECP2c.460G>C (p.Asp154His)
c.496G>C (p.Asp166His)
c.65+28G>C
c.468+28G>C (n.468+28G>C)
n.2808G>C
c.448G>C (p.Asp150His)
c.432+28G>C (n.432+28G>C)
c.181G>C (p.Asp61His)
c.-129+28G>C (n.-129+28G>C)
Xg.154031368C>TCA415174634MECP2c.460G>A (p.Asp154Asn)
c.496G>A (p.Asp166Asn)
c.65+28G>A
c.468+28G>A (n.468+28G>A)
n.2808G>A
c.448G>A (p.Asp150Asn)
c.432+28G>A (n.432+28G>A)
c.181G>A (p.Asp61Asn)
c.-129+28G>A (n.-129+28G>A)
Xg.154031369A>CCA415174651MECP2c.459T>G (p.Asn153Lys)
c.495T>G (p.Asn165Lys)
c.65+27T>G
c.468+27T>G (n.468+27T>G)
n.2807T>G
c.447T>G (p.Asn149Lys)
c.432+27T>G (n.432+27T>G)
c.180T>G (p.Asn60Lys)
c.-129+27T>G (n.-129+27T>G)
Xg.154031369A>GCA519705628MECP2c.459T>C (p.Asn153=)
c.495T>C (p.Asn165=)
c.65+27T>C
c.468+27T>C (n.468+27T>C)
n.2807T>C
c.447T>C (p.Asn149=)
c.432+27T>C (n.432+27T>C)
c.180T>C (p.Asn60=)
c.-129+27T>C (n.-129+27T>C)
Xg.154031369A>TCA415174654MECP2c.459T>A (p.Asn153Lys)
c.495T>A (p.Asn165Lys)
c.65+27T>A
c.468+27T>A (n.468+27T>A)
n.2807T>A
c.447T>A (p.Asn149Lys)
c.432+27T>A (n.432+27T>A)
c.180T>A (p.Asn60Lys)
c.-129+27T>A (n.-129+27T>A)
Xg.154031370T>ACA415174659MECP2c.458A>T (p.Asn153Ile)
c.494A>T (p.Asn165Ile)
c.65+26A>T
c.*512A>T (n.*512A>T)
c.468+26A>T (n.468+26A>T)
n.2806A>T
c.446A>T (p.Asn149Ile)
c.432+26A>T (n.432+26A>T)
c.179A>T (p.Asn60Ile)
c.-129+26A>T (n.-129+26A>T)
Xg.154031370T>CCA415174662MECP2c.458A>G (p.Asn153Ser)
c.494A>G (p.Asn165Ser)
c.65+26A>G
c.*512A>G (n.*512A>G)
c.468+26A>G (n.468+26A>G)
n.2806A>G
c.446A>G (p.Asn149Ser)
c.432+26A>G (n.432+26A>G)
c.179A>G (p.Asn60Ser)
c.-129+26A>G (n.-129+26A>G)
Xg.154031370T>GCA415174683MECP2c.458A>C (p.Asn153Thr)
c.494A>C (p.Asn165Thr)
c.65+26A>C
c.*512A>C (n.*512A>C)
c.468+26A>C (n.468+26A>C)
n.2806A>C
c.446A>C (p.Asn149Thr)
c.432+26A>C (n.432+26A>C)
c.179A>C (p.Asn60Thr)
c.-129+26A>C (n.-129+26A>C)
Xg.154031371T>ACA415174687MECP2c.457A>T (p.Asn153Tyr)
c.493A>T (p.Asn165Tyr)
c.65+25A>T
c.*511A>T (n.*511A>T)
c.468+25A>T (n.468+25A>T)
n.2805A>T
c.445A>T (p.Asn149Tyr)
c.432+25A>T (n.432+25A>T)
c.178A>T (p.Asn60Tyr)
c.-129+25A>T (n.-129+25A>T)
Xg.154031371T>CCA415174690MECP2c.457A>G (p.Asn153Asp)
c.493A>G (p.Asn165Asp)
c.65+25A>G
c.*511A>G (n.*511A>G)
c.468+25A>G (n.468+25A>G)
n.2805A>G
c.445A>G (p.Asn149Asp)
c.432+25A>G (n.432+25A>G)
c.178A>G (p.Asn60Asp)
c.-129+25A>G (n.-129+25A>G)
gnomAD v4
Xg.154031371T>GCA415174695MECP2c.457A>C (p.Asn153His)
c.493A>C (p.Asn165His)
c.65+25A>C
c.*511A>C (n.*511A>C)
c.468+25A>C (n.468+25A>C)
n.2805A>C
c.445A>C (p.Asn149His)
c.432+25A>C (n.432+25A>C)
c.178A>C (p.Asn60His)
c.-129+25A>C (n.-129+25A>C)
Xg.154031372A>CCA519705632MECP2c.456T>G (p.Pro152=)
c.492T>G (p.Pro164=)
c.65+24T>G
c.*510T>G (n.*510T>G)
c.468+24T>G (n.468+24T>G)
n.2804T>G
c.444T>G (p.Pro148=)
c.432+24T>G (n.432+24T>G)
c.177T>G (p.Pro59=)
c.-129+24T>G (n.-129+24T>G)
Xg.154031372A>GCA519705633MECP2c.456T>C (p.Pro152=)
c.492T>C (p.Pro164=)
c.65+24T>C
c.*510T>C (n.*510T>C)
c.468+24T>C (n.468+24T>C)
n.2804T>C
c.444T>C (p.Pro148=)
c.432+24T>C (n.432+24T>C)
c.177T>C (p.Pro59=)
c.-129+24T>C (n.-129+24T>C)
Xg.154031372A>TCA519705634MECP2c.456T>A (p.Pro152=)
c.492T>A (p.Pro164=)
c.65+24T>A
c.*510T>A (n.*510T>A)
c.468+24T>A (n.468+24T>A)
n.2804T>A
c.444T>A (p.Pro148=)
c.432+24T>A (n.432+24T>A)
c.177T>A (p.Pro59=)
c.-129+24T>A (n.-129+24T>A)
Xg.154031373G>ACA415174704MECP2c.455C>T (p.Pro152Leu)
c.491C>T (p.Pro164Leu)
c.65+23C>T
c.*509C>T (n.*509C>T)
c.468+23C>T (n.468+23C>T)
n.2803C>T
c.443C>T (p.Pro148Leu)
c.432+23C>T (n.432+23C>T)
c.176C>T (p.Pro59Leu)
c.-129+23C>T (n.-129+23C>T)
ClinVar
Xg.154031373G>CCA270424MECP2c.455C>G (p.Pro152Arg)
c.491C>G (p.Pro164Arg)
c.65+23C>G
c.*509C>G (n.*509C>G)
c.468+23C>G (n.468+23C>G)
n.2803C>G
c.443C>G (p.Pro148Arg)
c.432+23C>G (n.432+23C>G)
c.176C>G (p.Pro59Arg)
c.-129+23C>G (n.-129+23C>G)
ClinVar dbSNP
Xg.154031373G=CA2466570999MECP2c.455C= (p.Pro152=)
c.491C= (p.Pro164=)
c.65+23C=
c.*509C= (n.*509C=)
c.468+23C= (n.468+23C=)
n.2803C=
c.443C= (p.Pro148=)
c.432+23C= (n.432+23C=)
c.176C= (p.Pro59=)
c.-129+23C= (n.-129+23C=)
Xg.154031373G>TCA415174698MECP2c.455C>A (p.Pro152His)
c.491C>A (p.Pro164His)
c.65+23C>A
c.*509C>A (n.*509C>A)
c.468+23C>A (n.468+23C>A)
n.2803C>A
c.443C>A (p.Pro148His)
c.432+23C>A (n.432+23C>A)
c.176C>A (p.Pro59His)
c.-129+23C>A (n.-129+23C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031374G>ACA415174708MECP2c.454C>T (p.Pro152Ser)
c.490C>T (p.Pro164Ser)
c.65+22C>T
c.*508C>T (n.*508C>T)
c.468+22C>T (n.468+22C>T)
n.2802C>T
c.442C>T (p.Pro148Ser)
c.432+22C>T (n.432+22C>T)
c.175C>T (p.Pro59Ser)
c.-129+22C>T (n.-129+22C>T)
Xg.154031374G>CCA121717MECP2c.454C>G (p.Pro152Ala)
c.490C>G (p.Pro164Ala)
c.65+22C>G
c.*508C>G (n.*508C>G)
c.468+22C>G (n.468+22C>G)
n.2802C>G
c.442C>G (p.Pro148Ala)
c.432+22C>G (n.432+22C>G)
c.175C>G (p.Pro59Ala)
c.-129+22C>G (n.-129+22C>G)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031374G=CA2466571000MECP2c.454C= (p.Pro152=)
c.490C= (p.Pro164=)
c.65+22C=
c.*508C= (n.*508C=)
c.468+22C= (n.468+22C=)
n.2802C=
c.442C= (p.Pro148=)
c.432+22C= (n.432+22C=)
c.175C= (p.Pro59=)
c.-129+22C= (n.-129+22C=)
Xg.154031374G>TCA415174714MECP2c.454C>A (p.Pro152Thr)
c.490C>A (p.Pro164Thr)
c.65+22C>A
c.*508C>A (n.*508C>A)
c.468+22C>A (n.468+22C>A)
n.2802C>A
c.442C>A (p.Pro148Thr)
c.432+22C>A (n.432+22C>A)
c.175C>A (p.Pro59Thr)
c.-129+22C>A (n.-129+22C>A)
ClinVar
Xg.154031375G>ACA519705636MECP2c.453C>T (p.Asp151=)
c.489C>T (p.Asp163=)
c.65+21C>T
c.*507C>T (n.*507C>T)
c.468+21C>T (n.468+21C>T)
n.2801C>T
c.441C>T (p.Asp147=)
c.432+21C>T (n.432+21C>T)
c.174C>T (p.Asp58=)
c.-129+21C>T (n.-129+21C>T)
dbSNP gnomAD v4
Xg.154031375G>CCA415174716MECP2c.453C>G (p.Asp151Glu)
c.489C>G (p.Asp163Glu)
c.65+21C>G
c.*507C>G (n.*507C>G)
c.468+21C>G (n.468+21C>G)
n.2801C>G
c.441C>G (p.Asp147Glu)
c.432+21C>G (n.432+21C>G)
c.174C>G (p.Asp58Glu)
c.-129+21C>G (n.-129+21C>G)
Xg.154031375G>TCA415174720MECP2c.453C>A (p.Asp151Glu)
c.489C>A (p.Asp163Glu)
c.65+21C>A
c.*507C>A (n.*507C>A)
c.468+21C>A (n.468+21C>A)
n.2801C>A
c.441C>A (p.Asp147Glu)
c.432+21C>A (n.432+21C>A)
c.174C>A (p.Asp58Glu)
c.-129+21C>A (n.-129+21C>A)
Xg.154031376T>ACA415174729MECP2c.452A>T (p.Asp151Val)
c.488A>T (p.Asp163Val)
c.65+20A>T
c.*506A>T (n.*506A>T)
c.468+20A>T (n.468+20A>T)
n.2800A>T
c.440A>T (p.Asp147Val)
c.432+20A>T (n.432+20A>T)
c.173A>T (p.Asp58Val)
c.-129+20A>T (n.-129+20A>T)
ClinVar
Xg.154031376T>CCA270421MECP2c.452A>G (p.Asp151Gly)
c.488A>G (p.Asp163Gly)
c.65+20A>G
c.*506A>G (n.*506A>G)
c.468+20A>G (n.468+20A>G)
n.2800A>G
c.440A>G (p.Asp147Gly)
c.432+20A>G (n.432+20A>G)
c.173A>G (p.Asp58Gly)
c.-129+20A>G (n.-129+20A>G)
ClinVar dbSNP
Xg.154031376T>GCA415174732MECP2c.452A>C (p.Asp151Ala)
c.488A>C (p.Asp163Ala)
c.65+20A>C
c.*506A>C (n.*506A>C)
c.468+20A>C (n.468+20A>C)
n.2800A>C
c.440A>C (p.Asp147Ala)
c.432+20A>C (n.432+20A>C)
c.173A>C (p.Asp58Ala)
c.-129+20A>C (n.-129+20A>C)
Xg.154031376T=CA2466571002MECP2c.452A= (p.Asp151=)
c.488A= (p.Asp163=)
c.65+20A=
c.*506A= (n.*506A=)
c.468+20A= (n.468+20A=)
n.2800A=
c.440A= (p.Asp147=)
c.432+20A= (n.432+20A=)
c.173A= (p.Asp58=)
c.-129+20A= (n.-129+20A=)
Xg.154031376_154031377delinsTCCA2466571001MECP2c.451_452delinsGA (p.Asp151=)
c.487_488delinsGA (p.Asp163=)
c.65+19_65+20delinsGA
c.*505_*506delinsGA (n.*505_*506delinsGA)
c.468+19_468+20delinsGA (n.468+19_468+20delinsGA)
n.2799_2800delinsGA
c.439_440delinsGA (p.Asp147=)
c.432+19_432+20delinsGA (n.432+19_432+20delinsGA)
c.172_173delinsGA (p.Asp58=)
c.-129+19_-129+20delinsGA (n.-129+19_-129+20delinsGA)

Number of alleles fetched