Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.240869209C>ACA351313431AGXTc.205C>A (p.Gln69Lys)
n.225C>A
n.405+1024G>T
2g.240869209C=CA1339330937AGXTc.205C= (p.Gln69=)
n.225C=
n.405+1024G=
2g.240869209C>GCA351313432AGXTc.205C>G (p.Gln69Glu)
n.225C>G
n.405+1024G>C
2g.240869209C>TCA275644AGXTc.205C>T (p.Gln69Ter)
n.225C>T
n.405+1024G>A
ClinVar dbSNP
2g.240869210A>CCA351313433AGXTc.206A>C (p.Gln69Pro)
n.226A>C
n.405+1023T>G
2g.240869210A>GCA351313434AGXTc.206A>G (p.Gln69Arg)
n.226A>G
n.405+1023T>C
2g.240869210A>TCA351313435AGXTc.206A>T (p.Gln69Leu)
n.226A>T
n.405+1023T>A
2g.240869211G>ACA432234752AGXTc.207G>A (p.Gln69=)
n.227G>A
n.405+1022C>T
ClinVar
2g.240869211G>CCA351313436AGXTc.207G>C (p.Gln69His)
n.227G>C
n.405+1022C>G
2g.240869211G>TCA351313437AGXTc.207G>T (p.Gln69His)
n.227G>T
n.405+1022C>A
2g.240869212A>CCA351313438AGXTc.208A>C (p.Thr70Pro)
n.228A>C
n.405+1021T>G
2g.240869212A>GCA351313439AGXTc.208A>G (p.Thr70Ala)
n.228A>G
n.405+1021T>C
2g.240869212A>TCA351313440AGXTc.208A>T (p.Thr70Ser)
n.228A>T
n.405+1021T>A
2g.240869213C>ACA275647AGXTc.209C>A (p.Thr70Asn)
n.229C>A
n.405+1020G>T
ClinVar dbSNP
2g.240869213C=CA1339330938AGXTc.209C= (p.Thr70=)
n.229C=
n.405+1020G=
2g.240869213C>GCA351313441AGXTc.209C>G (p.Thr70Ser)
n.229C>G
n.405+1020G>C
2g.240869213C>TCA351313442AGXTc.209C>T (p.Thr70Ile)
n.229C>T
n.405+1020G>A
2g.240869214C>ACA432234758AGXTc.210C>A (p.Thr70=)
n.230C>A
n.405+1019G>T
2g.240869214C>GCA432234759AGXTc.210C>G (p.Thr70=)
n.230C>G
n.405+1019G>C
2g.240869214C>TCA432234760AGXTc.210C>T (p.Thr70=)
n.230C>T
n.405+1019G>A
ClinVar
2g.240869215A>CCA432234762AGXTc.211A>C (p.Arg71=)
n.231A>C
n.405+1018T>G
2g.240869215A>GCA351313444AGXTc.211A>G (p.Arg71Gly)
n.231A>G
n.405+1018T>C
2g.240869215A>TCA351313443AGXTc.211A>T (p.Arg71Trp)
n.231A>T
n.405+1018T>A
2g.240869216G>ACA351313445AGXTc.212G>A (p.Arg71Lys)
n.232G>A
n.405+1017C>T
2g.240869216G>CCA351313446AGXTc.212G>C (p.Arg71Thr)
n.232G>C
n.405+1017C>G
2g.240869216G>TCA351313447AGXTc.212G>T (p.Arg71Met)
n.232G>T
n.405+1017C>A
2g.240869217G>ACA432234765AGXTc.213G>A (p.Arg71=)
n.233G>A
n.405+1016C>T
2g.240869217G>CCA68173772AGXTc.213G>C (p.Arg71Ser)
n.233G>C
n.405+1016C>G
dbSNP
2g.240869217G=CA1339330939AGXTc.213G= (p.Arg71=)
n.233G=
n.405+1016C=
2g.240869217G>TCA351313448AGXTc.213G>T (p.Arg71Ser)
n.233G>T
n.405+1016C>A
2g.240869218A=CA1339330940AGXTc.214A= (p.Asn72=)
n.234A=
n.405+1015T=
2g.240869218A>CCA2209035AGXTc.214A>C (p.Asn72His)
n.234A>C
n.405+1015T>G
ClinVar dbSNP ExAC gnomAD
2g.240869218A>GCA351313449AGXTc.214A>G (p.Asn72Asp)
n.234A>G
n.405+1015T>C
2g.240869218A>TCA351313450AGXTc.214A>T (p.Asn72Tyr)
n.234A>T
n.405+1015T>A
2g.240869219dupCA275818AGXTc.215dup (p.Asn72LysfsTer?)
n.235dup
n.405+1015dup
ClinVar dbSNP
2g.240869219A=CA1339330941AGXTc.215A= (p.Asn72=)
n.235A=
n.405+1014T=
2g.240869219A>CCA351313451AGXTc.215A>C (p.Asn72Thr)
n.235A>C
n.405+1014T>G
2g.240869219A>GCA68173777AGXTc.215A>G (p.Asn72Ser)
n.235A>G
n.405+1014T>C
dbSNP
2g.240869219A>TCA351313452AGXTc.215A>T (p.Asn72Ile)
n.235A>T
n.405+1014T>A
gnomAD
2g.240869219_240869220delinsACCA1339330942AGXTc.215_216delinsAC (p.Asn72=)
n.235_236delinsAC
n.405+1013_405+1014delinsGT
2g.240869220C>ACA351313453AGXTc.216C>A (p.Asn72Lys)
n.236C>A
n.405+1013G>T
2g.240869220C=CA1339330943AGXTc.216C= (p.Asn72=)
n.236C=
n.405+1013G=
2g.240869220C>GCA68173786AGXTc.216C>G (p.Asn72Lys)
n.236C>G
n.405+1013G>C
dbSNP gnomAD
2g.240869220C>TCA432234776AGXTc.216C>T (p.Asn72=)
n.236C>T
n.405+1013G>A
2g.240869222delCA1044064962AGXTc.218del (p.Pro73HisfsTer?)
n.238del
n.405+1013del
dbSNP
2g.240869221C>ACA351313456AGXTc.217C>A (p.Pro73Thr)
n.237C>A
n.405+1012G>T
2g.240869221C>GCA351313455AGXTc.217C>G (p.Pro73Ala)
n.237C>G
n.405+1012G>C
2g.240869221C>TCA351313454AGXTc.217C>T (p.Pro73Ser)
n.237C>T
n.405+1012G>A
2g.240869222C>ACA351313457AGXTc.218C>A (p.Pro73Gln)
n.238C>A
n.405+1011G>T
2g.240869222C>GCA351313458AGXTc.218C>G (p.Pro73Arg)
n.238C>G
n.405+1011G>C

Number of alleles fetched