Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.25012019_25015413delCA915950806ARXc.196+127_1073+901del
ClinVar
Xg.25013229_25013252delCA641364630ARXc.727_750del (p.Glu248_Asp255del)
ClinVar dbSNP gnomAD
Xg.25013231_25013293delCA658799627ARXc.670_732del (p.Glu234_Asp254del)
ClinVar dbSNP
Xg.25013246_25013269delCA1131757043ARXc.721_744del (p.Leu243_Glu250del)
Xg.25013253C>ACA412612521ARXc.742G>T (p.Glu248Ter)
Xg.25013253C>GCA412612522ARXc.742G>C (p.Glu248Gln)
ClinVar
Xg.25013253C>TCA412612523ARXc.742G>A (p.Glu248Lys)
Xg.25013254G>ACA515947585ARXc.741C>T (p.Asp247=)
Xg.25013254G>CCA412612524ARXc.741C>G (p.Asp247Glu)
Xg.25013254G>TCA412612525ARXc.741C>A (p.Asp247Glu)
Xg.25013255T>ACA412612527ARXc.740A>T (p.Asp247Val)
Xg.25013255T>CCA10373883ARXc.740A>G (p.Asp247Gly)
dbSNP ExAC gnomAD
Xg.25013255T>GCA412612526ARXc.740A>C (p.Asp247Ala)
Xg.25013256C>ACA412612528ARXc.739G>T (p.Asp247Tyr)
Xg.25013256C>GCA10373884ARXc.739G>C (p.Asp247His)
dbSNP ExAC gnomAD
Xg.25013256C>TCA412612529ARXc.739G>A (p.Asp247Asn)
gnomAD
Xg.25013257G>ACA10373885ARXc.738C>T (p.Asp246=)
dbSNP ExAC gnomAD
Xg.25013257G>CCA412612531ARXc.738C>G (p.Asp246Glu)
Xg.25013257G>TCA412612530ARXc.738C>A (p.Asp246Glu)
Xg.25013258T>ACA412612532ARXc.737A>T (p.Asp246Val)
Xg.25013258T>CCA412612533ARXc.737A>G (p.Asp246Gly)
gnomAD
Xg.25013258T>GCA412612534ARXc.737A>C (p.Asp246Ala)
Xg.25013259C>ACA412612535ARXc.736G>T (p.Asp246Tyr)
Xg.25013259C>GCA412612536ARXc.736G>C (p.Asp246His)
Xg.25013259C>TCA412612537ARXc.736G>A (p.Asp246Asn)
Xg.25013260C>ACA412612538ARXc.735G>T (p.Glu245Asp)
Xg.25013260C>GCA412612539ARXc.735G>C (p.Glu245Asp)
Xg.25013260C>TCA515947597ARXc.735G>A (p.Glu245=)
Xg.25013261T>ACA412612540ARXc.734A>T (p.Glu245Val)
Xg.25013261T>CCA412612541ARXc.734A>G (p.Glu245Gly)
Xg.25013261T>GCA412612542ARXc.734A>C (p.Glu245Ala)
Xg.25013262C>ACA412612545ARXc.733G>T (p.Glu245Ter)
Xg.25013262C>GCA412612543ARXc.733G>C (p.Glu245Gln)
Xg.25013262C>TCA412612544ARXc.733G>A (p.Glu245Lys)
Xg.25013263C>ACA515947602ARXc.732G>T (p.Leu244=)
Xg.25013263C>GCA515947603ARXc.732G>C (p.Leu244=)
Xg.25013263C>TCA515947604ARXc.732G>A (p.Leu244=)
Xg.25013264A>CCA412612546ARXc.731T>G (p.Leu244Arg)
Xg.25013264A>GCA412612547ARXc.731T>C (p.Leu244Pro)
Xg.25013264A>TCA412612548ARXc.731T>A (p.Leu244Gln)
Xg.25013265G>ACA515947605ARXc.730C>T (p.Leu244=)
gnomAD
Xg.25013265G>CCA412612549ARXc.730C>G (p.Leu244Val)
Xg.25013265G>TCA412612550ARXc.730C>A (p.Leu244Met)
Xg.25013266C>ACA515947609ARXc.729G>T (p.Leu243=)
Xg.25013266C>GCA515947611ARXc.729G>C (p.Leu243=)
Xg.25013266C>TCA515947612ARXc.729G>A (p.Leu243=)
gnomAD
Xg.25013267A>CCA412612551ARXc.728T>G (p.Leu243Arg)
Xg.25013267A>GCA412612552ARXc.728T>C (p.Leu243Pro)
Xg.25013267A>TCA412612553ARXc.728T>A (p.Leu243Gln)
Xg.25013268G>ACA515947615ARXc.727C>T (p.Leu243=)

Number of alleles fetched