Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.98416732_98416735delinsCGTTCA1479543567RAP1GDS1c.764-13_764-10delinsCGTT (n.764-13_764-10delinsCGTT)
c.491-13_491-10delinsCGTT (n.491-13_491-10delinsCGTT)
c.767-13_767-10delinsCGTT (n.767-13_767-10delinsCGTT)
c.620-13_620-10delinsCGTT (n.620-13_620-10delinsCGTT)
c.617-13_617-10delinsCGTT (n.617-13_617-10delinsCGTT)
c.192-13_192-10delinsCGTT
c.524-13_524-10delinsCGTT (n.524-13_524-10delinsCGTT)
c.377-13_377-10delinsCGTT (n.377-13_377-10delinsCGTT)
c.230-13_230-10delinsCGTT (n.230-13_230-10delinsCGTT)
n.945-13_945-10delinsCGTT
n.805-13_805-10delinsCGTT
n.802-13_802-10delinsCGTT
4g.98416733delCA2671483092RAP1GDS1c.764-12del (n.764-12del)
c.491-12del (n.491-12del)
c.767-12del (n.767-12del)
c.620-12del (n.620-12del)
c.617-12del (n.617-12del)
c.192-12del
c.524-12del (n.524-12del)
c.377-12del (n.377-12del)
c.230-12del (n.230-12del)
n.945-12del
n.805-12del
n.802-12del
gnomAD v4
4g.98416733G>ACA3017189RAP1GDS1c.764-12G>A (n.764-12G>A)
c.491-12G>A (n.491-12G>A)
c.767-12G>A (n.767-12G>A)
c.620-12G>A (n.620-12G>A)
c.617-12G>A (n.617-12G>A)
c.192-12G>A
c.524-12G>A (n.524-12G>A)
c.377-12G>A (n.377-12G>A)
c.230-12G>A (n.230-12G>A)
n.945-12G>A
n.805-12G>A
n.802-12G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.98416733G=CA1479543569RAP1GDS1c.764-12G= (n.764-12G=)
c.491-12G= (n.491-12G=)
c.767-12G= (n.767-12G=)
c.620-12G= (n.620-12G=)
c.617-12G= (n.617-12G=)
c.192-12G=
c.524-12G= (n.524-12G=)
c.377-12G= (n.377-12G=)
c.230-12G= (n.230-12G=)
n.945-12G=
n.805-12G=
n.802-12G=
4g.98416736_98416738delCA3017188RAP1GDS1c.764-9_764-7del (n.764-9_764-7del)
c.491-9_491-7del (n.491-9_491-7del)
c.767-9_767-7del (n.767-9_767-7del)
c.620-9_620-7del (n.620-9_620-7del)
c.617-9_617-7del (n.617-9_617-7del)
c.192-9_192-7del
c.524-9_524-7del (n.524-9_524-7del)
c.377-9_377-7del (n.377-9_377-7del)
c.230-9_230-7del (n.230-9_230-7del)
n.945-9_945-7del
n.805-9_805-7del
n.802-9_802-7del
dbSNP ExAC gnomAD v2 gnomAD v4
4g.98416734T>ACA2671483093RAP1GDS1c.764-11T>A (n.764-11T>A)
c.491-11T>A (n.491-11T>A)
c.767-11T>A (n.767-11T>A)
c.620-11T>A (n.620-11T>A)
c.617-11T>A (n.617-11T>A)
c.192-11T>A
c.524-11T>A (n.524-11T>A)
c.377-11T>A (n.377-11T>A)
c.230-11T>A (n.230-11T>A)
n.945-11T>A
n.805-11T>A
n.802-11T>A
gnomAD v4
4g.98416734T>CCA2671483094RAP1GDS1c.764-11T>C (n.764-11T>C)
c.491-11T>C (n.491-11T>C)
c.767-11T>C (n.767-11T>C)
c.620-11T>C (n.620-11T>C)
c.617-11T>C (n.617-11T>C)
c.192-11T>C
c.524-11T>C (n.524-11T>C)
c.377-11T>C (n.377-11T>C)
c.230-11T>C (n.230-11T>C)
n.945-11T>C
n.805-11T>C
n.802-11T>C
gnomAD v4
4g.98416736G>ACA645515387RAP1GDS1c.764-9G>A (n.764-9G>A)
c.491-9G>A (n.491-9G>A)
c.767-9G>A (n.767-9G>A)
c.620-9G>A (n.620-9G>A)
c.617-9G>A (n.617-9G>A)
c.192-9G>A
c.524-9G>A (n.524-9G>A)
c.377-9G>A (n.377-9G>A)
c.230-9G>A (n.230-9G>A)
n.945-9G>A
n.805-9G>A
n.802-9G>A
COSMIC
4g.98416736G=CA1479543570RAP1GDS1c.764-9G= (n.764-9G=)
c.491-9G= (n.491-9G=)
c.767-9G= (n.767-9G=)
c.620-9G= (n.620-9G=)
c.617-9G= (n.617-9G=)
c.192-9G=
c.524-9G= (n.524-9G=)
c.377-9G= (n.377-9G=)
c.230-9G= (n.230-9G=)
n.945-9G=
n.805-9G=
n.802-9G=
4g.98416736G>TCA101595085RAP1GDS1c.764-9G>T (n.764-9G>T)
c.491-9G>T (n.491-9G>T)
c.767-9G>T (n.767-9G>T)
c.620-9G>T (n.620-9G>T)
c.617-9G>T (n.617-9G>T)
c.192-9G>T
c.524-9G>T (n.524-9G>T)
c.377-9G>T (n.377-9G>T)
c.230-9G>T (n.230-9G>T)
n.945-9G>T
n.805-9G>T
n.802-9G>T
dbSNP gnomAD v2 gnomAD v4
4g.98416737T>CCA645515388RAP1GDS1c.764-8T>C (n.764-8T>C)
c.491-8T>C (n.491-8T>C)
c.767-8T>C (n.767-8T>C)
c.620-8T>C (n.620-8T>C)
c.617-8T>C (n.617-8T>C)
c.192-8T>C
c.524-8T>C (n.524-8T>C)
c.377-8T>C (n.377-8T>C)
c.230-8T>C (n.230-8T>C)
n.945-8T>C
n.805-8T>C
n.802-8T>C
gnomAD v4 COSMIC
4g.98416738T>ACA553089454RAP1GDS1c.764-7T>A (n.764-7T>A)
c.491-7T>A (n.491-7T>A)
c.767-7T>A (n.767-7T>A)
c.620-7T>A (n.620-7T>A)
c.617-7T>A (n.617-7T>A)
c.192-7T>A
c.524-7T>A (n.524-7T>A)
c.377-7T>A (n.377-7T>A)
c.230-7T>A (n.230-7T>A)
n.945-7T>A
n.805-7T>A
n.802-7T>A
dbSNP gnomAD v2 gnomAD v4
4g.98416738T=CA1479543571RAP1GDS1c.764-7T= (n.764-7T=)
c.491-7T= (n.491-7T=)
c.767-7T= (n.767-7T=)
c.620-7T= (n.620-7T=)
c.617-7T= (n.617-7T=)
c.192-7T=
c.524-7T= (n.524-7T=)
c.377-7T= (n.377-7T=)
c.230-7T= (n.230-7T=)
n.945-7T=
n.805-7T=
n.802-7T=
4g.98416739C>ACA2671483095RAP1GDS1c.764-6C>A (n.764-6C>A)
c.491-6C>A (n.491-6C>A)
c.767-6C>A (n.767-6C>A)
c.620-6C>A (n.620-6C>A)
c.617-6C>A (n.617-6C>A)
c.192-6C>A
c.524-6C>A (n.524-6C>A)
c.377-6C>A (n.377-6C>A)
c.230-6C>A (n.230-6C>A)
n.945-6C>A
n.805-6C>A
n.802-6C>A
gnomAD v4
4g.98416739C=CA1479543572RAP1GDS1c.764-6C= (n.764-6C=)
c.491-6C= (n.491-6C=)
c.767-6C= (n.767-6C=)
c.620-6C= (n.620-6C=)
c.617-6C= (n.617-6C=)
c.192-6C=
c.524-6C= (n.524-6C=)
c.377-6C= (n.377-6C=)
c.230-6C= (n.230-6C=)
n.945-6C=
n.805-6C=
n.802-6C=
4g.98416739C>GCA3017190RAP1GDS1c.764-6C>G (n.764-6C>G)
c.491-6C>G (n.491-6C>G)
c.767-6C>G (n.767-6C>G)
c.620-6C>G (n.620-6C>G)
c.617-6C>G (n.617-6C>G)
c.192-6C>G
c.524-6C>G (n.524-6C>G)
c.377-6C>G (n.377-6C>G)
c.230-6C>G (n.230-6C>G)
n.945-6C>G
n.805-6C>G
n.802-6C>G
dbSNP ExAC gnomAD v2 gnomAD v4
4g.98416739C>TCA553089458RAP1GDS1c.764-6C>T (n.764-6C>T)
c.491-6C>T (n.491-6C>T)
c.767-6C>T (n.767-6C>T)
c.620-6C>T (n.620-6C>T)
c.617-6C>T (n.617-6C>T)
c.192-6C>T
c.524-6C>T (n.524-6C>T)
c.377-6C>T (n.377-6C>T)
c.230-6C>T (n.230-6C>T)
n.945-6C>T
n.805-6C>T
n.802-6C>T
dbSNP gnomAD v2 gnomAD v4
4g.98416742T>CCA553089460RAP1GDS1c.764-3T>C (n.764-3T>C)
c.491-3T>C (n.491-3T>C)
c.767-3T>C (n.767-3T>C)
c.620-3T>C (n.620-3T>C)
c.617-3T>C (n.617-3T>C)
c.192-3T>C
c.524-3T>C (n.524-3T>C)
c.377-3T>C (n.377-3T>C)
c.230-3T>C (n.230-3T>C)
n.945-3T>C
n.805-3T>C
n.802-3T>C
dbSNP gnomAD v2 gnomAD v4
4g.98416742T=CA1479543573RAP1GDS1c.764-3T= (n.764-3T=)
c.491-3T= (n.491-3T=)
c.767-3T= (n.767-3T=)
c.620-3T= (n.620-3T=)
c.617-3T= (n.617-3T=)
c.192-3T=
c.524-3T= (n.524-3T=)
c.377-3T= (n.377-3T=)
c.230-3T= (n.230-3T=)
n.945-3T=
n.805-3T=
n.802-3T=
4g.98416743A>CCA357480090RAP1GDS1c.764-2A>C (n.764-2A>C)
c.491-2A>C (n.491-2A>C)
c.767-2A>C (n.767-2A>C)
c.620-2A>C (n.620-2A>C)
c.617-2A>C (n.617-2A>C)
c.192-2A>C
c.524-2A>C (n.524-2A>C)
c.377-2A>C (n.377-2A>C)
c.230-2A>C (n.230-2A>C)
n.945-2A>C
n.805-2A>C
n.802-2A>C
4g.98416743A>GCA357480091RAP1GDS1c.764-2A>G (n.764-2A>G)
c.491-2A>G (n.491-2A>G)
c.767-2A>G (n.767-2A>G)
c.620-2A>G (n.620-2A>G)
c.617-2A>G (n.617-2A>G)
c.192-2A>G
c.524-2A>G (n.524-2A>G)
c.377-2A>G (n.377-2A>G)
c.230-2A>G (n.230-2A>G)
n.945-2A>G
n.805-2A>G
n.802-2A>G
4g.98416743A>TCA357480093RAP1GDS1c.764-2A>T (n.764-2A>T)
c.491-2A>T (n.491-2A>T)
c.767-2A>T (n.767-2A>T)
c.620-2A>T (n.620-2A>T)
c.617-2A>T (n.617-2A>T)
c.192-2A>T
c.524-2A>T (n.524-2A>T)
c.377-2A>T (n.377-2A>T)
c.230-2A>T (n.230-2A>T)
n.945-2A>T
n.805-2A>T
n.802-2A>T
4g.98416744G>ACA101595090RAP1GDS1c.764-1G>A (n.764-1G>A)
c.491-1G>A (n.491-1G>A)
c.767-1G>A (n.767-1G>A)
c.620-1G>A (n.620-1G>A)
c.617-1G>A (n.617-1G>A)
c.192-1G>A
c.524-1G>A (n.524-1G>A)
c.377-1G>A (n.377-1G>A)
c.230-1G>A (n.230-1G>A)
n.945-1G>A
n.805-1G>A
n.802-1G>A
dbSNP
4g.98416744G>CCA357480102RAP1GDS1c.764-1G>C (n.764-1G>C)
c.491-1G>C (n.491-1G>C)
c.767-1G>C (n.767-1G>C)
c.620-1G>C (n.620-1G>C)
c.617-1G>C (n.617-1G>C)
c.192-1G>C
c.524-1G>C (n.524-1G>C)
c.377-1G>C (n.377-1G>C)
c.230-1G>C (n.230-1G>C)
n.945-1G>C
n.805-1G>C
n.802-1G>C
4g.98416744G=CA1479543574RAP1GDS1c.764-1G= (n.764-1G=)
c.491-1G= (n.491-1G=)
c.767-1G= (n.767-1G=)
c.620-1G= (n.620-1G=)
c.617-1G= (n.617-1G=)
c.192-1G=
c.524-1G= (n.524-1G=)
c.377-1G= (n.377-1G=)
c.230-1G= (n.230-1G=)
n.945-1G=
n.805-1G=
n.802-1G=
4g.98416744G>TCA357480103RAP1GDS1c.764-1G>T (n.764-1G>T)
c.491-1G>T (n.491-1G>T)
c.767-1G>T (n.767-1G>T)
c.620-1G>T (n.620-1G>T)
c.617-1G>T (n.617-1G>T)
c.192-1G>T
c.524-1G>T (n.524-1G>T)
c.377-1G>T (n.377-1G>T)
c.230-1G>T (n.230-1G>T)
n.945-1G>T
n.805-1G>T
n.802-1G>T
4g.98416745A>CCA357480104RAP1GDS1c.764A>C (p.Asp255Ala)
c.491A>C (p.Asp164Ala)
c.767A>C (p.Asp256Ala)
c.620A>C (p.Asp207Ala)
c.617A>C (p.Asp206Ala)
c.192A>C
c.524A>C (p.Asp175Ala)
c.377A>C (p.Asp126Ala)
c.230A>C (p.Asp77Ala)
n.945A>C
n.805A>C
n.802A>C
4g.98416745A>GCA357480107RAP1GDS1c.764A>G (p.Asp255Gly)
c.491A>G (p.Asp164Gly)
c.767A>G (p.Asp256Gly)
c.620A>G (p.Asp207Gly)
c.617A>G (p.Asp206Gly)
c.192A>G
c.524A>G (p.Asp175Gly)
c.377A>G (p.Asp126Gly)
c.230A>G (p.Asp77Gly)
n.945A>G
n.805A>G
n.802A>G
gnomAD v4
4g.98416745A>TCA357480105RAP1GDS1c.764A>T (p.Asp255Val)
c.491A>T (p.Asp164Val)
c.767A>T (p.Asp256Val)
c.620A>T (p.Asp207Val)
c.617A>T (p.Asp206Val)
c.192A>T
c.524A>T (p.Asp175Val)
c.377A>T (p.Asp126Val)
c.230A>T (p.Asp77Val)
n.945A>T
n.805A>T
n.802A>T
4g.98416746T>ACA357480110RAP1GDS1c.765T>A (p.Asp255Glu)
c.492T>A (p.Asp164Glu)
c.768T>A (p.Asp256Glu)
c.621T>A (p.Asp207Glu)
c.618T>A (p.Asp206Glu)
c.193T>A
c.525T>A (p.Asp175Glu)
c.378T>A (p.Asp126Glu)
c.231T>A (p.Asp77Glu)
n.946T>A
n.806T>A
n.803T>A
4g.98416746T>CCA440300318RAP1GDS1c.765T>C (p.Asp255=)
c.492T>C (p.Asp164=)
c.768T>C (p.Asp256=)
c.621T>C (p.Asp207=)
c.618T>C (p.Asp206=)
c.193T>C
c.525T>C (p.Asp175=)
c.378T>C (p.Asp126=)
c.231T>C (p.Asp77=)
n.946T>C
n.806T>C
n.803T>C
dbSNP
4g.98416746T>GCA357480112RAP1GDS1c.765T>G (p.Asp255Glu)
c.492T>G (p.Asp164Glu)
c.768T>G (p.Asp256Glu)
c.621T>G (p.Asp207Glu)
c.618T>G (p.Asp206Glu)
c.193T>G
c.525T>G (p.Asp175Glu)
c.378T>G (p.Asp126Glu)
c.231T>G (p.Asp77Glu)
n.946T>G
n.806T>G
n.803T>G
4g.98416746T=CA1479543575RAP1GDS1c.765T= (p.Asp255=)
c.492T= (p.Asp164=)
c.768T= (p.Asp256=)
c.621T= (p.Asp207=)
c.618T= (p.Asp206=)
c.193T=
c.525T= (p.Asp175=)
c.378T= (p.Asp126=)
c.231T= (p.Asp77=)
n.946T=
n.806T=
n.803T=
4g.98416747G>ACA357480123RAP1GDS1c.766G>A (p.Ala256Thr)
c.493G>A (p.Ala165Thr)
c.769G>A (p.Ala257Thr)
c.622G>A (p.Ala208Thr)
c.619G>A (p.Ala207Thr)
c.194G>A
c.526G>A (p.Ala176Thr)
c.379G>A (p.Ala127Thr)
c.232G>A (p.Ala78Thr)
n.947G>A
n.807G>A
n.804G>A
4g.98416747G>CCA357480127RAP1GDS1c.766G>C (p.Ala256Pro)
c.493G>C (p.Ala165Pro)
c.769G>C (p.Ala257Pro)
c.622G>C (p.Ala208Pro)
c.619G>C (p.Ala207Pro)
c.194G>C
c.526G>C (p.Ala176Pro)
c.379G>C (p.Ala127Pro)
c.232G>C (p.Ala78Pro)
n.947G>C
n.807G>C
n.804G>C
4g.98416747G>TCA357480129RAP1GDS1c.766G>T (p.Ala256Ser)
c.493G>T (p.Ala165Ser)
c.769G>T (p.Ala257Ser)
c.622G>T (p.Ala208Ser)
c.619G>T (p.Ala207Ser)
c.194G>T
c.526G>T (p.Ala176Ser)
c.379G>T (p.Ala127Ser)
c.232G>T (p.Ala78Ser)
n.947G>T
n.807G>T
n.804G>T
4g.98416748C>ACA3017191RAP1GDS1c.767C>A (p.Ala256Asp)
c.494C>A (p.Ala165Asp)
c.770C>A (p.Ala257Asp)
c.623C>A (p.Ala208Asp)
c.620C>A (p.Ala207Asp)
c.195C>A
c.527C>A (p.Ala176Asp)
c.380C>A (p.Ala127Asp)
c.233C>A (p.Ala78Asp)
n.948C>A
n.808C>A
n.805C>A
dbSNP ExAC gnomAD v2 gnomAD v4
4g.98416748C=CA1479543576RAP1GDS1c.767C= (p.Ala256=)
c.494C= (p.Ala165=)
c.770C= (p.Ala257=)
c.623C= (p.Ala208=)
c.620C= (p.Ala207=)
c.195C=
c.527C= (p.Ala176=)
c.380C= (p.Ala127=)
c.233C= (p.Ala78=)
n.948C=
n.808C=
n.805C=
4g.98416748C>GCA357480132RAP1GDS1c.767C>G (p.Ala256Gly)
c.494C>G (p.Ala165Gly)
c.770C>G (p.Ala257Gly)
c.623C>G (p.Ala208Gly)
c.620C>G (p.Ala207Gly)
c.195C>G
c.527C>G (p.Ala176Gly)
c.380C>G (p.Ala127Gly)
c.233C>G (p.Ala78Gly)
n.948C>G
n.808C>G
n.805C>G
4g.98416748C>TCA357480134RAP1GDS1c.767C>T (p.Ala256Val)
c.494C>T (p.Ala165Val)
c.770C>T (p.Ala257Val)
c.623C>T (p.Ala208Val)
c.620C>T (p.Ala207Val)
c.195C>T
c.527C>T (p.Ala176Val)
c.380C>T (p.Ala127Val)
c.233C>T (p.Ala78Val)
n.948C>T
n.808C>T
n.805C>T
4g.98416749T>ACA440300322RAP1GDS1c.768T>A (p.Ala256=)
c.495T>A (p.Ala165=)
c.771T>A (p.Ala257=)
c.624T>A (p.Ala208=)
c.621T>A (p.Ala207=)
c.196T>A
c.528T>A (p.Ala176=)
c.381T>A (p.Ala127=)
c.234T>A (p.Ala78=)
n.949T>A
n.809T>A
n.806T>A
4g.98416749T>CCA440300323RAP1GDS1c.768T>C (p.Ala256=)
c.495T>C (p.Ala165=)
c.771T>C (p.Ala257=)
c.624T>C (p.Ala208=)
c.621T>C (p.Ala207=)
c.196T>C
c.528T>C (p.Ala176=)
c.381T>C (p.Ala127=)
c.234T>C (p.Ala78=)
n.949T>C
n.809T>C
n.806T>C
4g.98416749T>GCA440300325RAP1GDS1c.768T>G (p.Ala256=)
c.495T>G (p.Ala165=)
c.771T>G (p.Ala257=)
c.624T>G (p.Ala208=)
c.621T>G (p.Ala207=)
c.196T>G
c.528T>G (p.Ala176=)
c.381T>G (p.Ala127=)
c.234T>G (p.Ala78=)
n.949T>G
n.809T>G
n.806T>G
4g.98416749_98416755dupCA2671483096RAP1GDS1c.768_774dup (p.Leu259TyrfsTer2)
c.495_501dup (p.Leu168TyrfsTer2)
c.771_777dup (p.Leu260TyrfsTer2)
c.624_630dup (p.Leu211TyrfsTer2)
c.621_627dup (p.Leu210TyrfsTer2)
c.196_202dup
c.528_534dup (p.Leu179TyrfsTer2)
c.381_387dup (p.Leu130TyrfsTer2)
c.234_240dup (p.Leu81TyrfsTer2)
n.949_955dup
n.809_815dup
n.806_812dup
gnomAD v4
4g.98416750A=CA1479543577RAP1GDS1c.769A= (p.Ile257=)
c.496A= (p.Ile166=)
c.772A= (p.Ile258=)
c.625A= (p.Ile209=)
c.622A= (p.Ile208=)
c.197A=
c.529A= (p.Ile177=)
c.382A= (p.Ile128=)
c.235A= (p.Ile79=)
n.950A=
n.810A=
n.807A=
4g.98416750A>CCA357480136RAP1GDS1c.769A>C (p.Ile257Leu)
c.496A>C (p.Ile166Leu)
c.772A>C (p.Ile258Leu)
c.625A>C (p.Ile209Leu)
c.622A>C (p.Ile208Leu)
c.197A>C
c.529A>C (p.Ile177Leu)
c.382A>C (p.Ile128Leu)
c.235A>C (p.Ile79Leu)
n.950A>C
n.810A>C
n.807A>C
4g.98416750A>GCA357480140RAP1GDS1c.769A>G (p.Ile257Val)
c.496A>G (p.Ile166Val)
c.772A>G (p.Ile258Val)
c.625A>G (p.Ile209Val)
c.622A>G (p.Ile208Val)
c.197A>G
c.529A>G (p.Ile177Val)
c.382A>G (p.Ile128Val)
c.235A>G (p.Ile79Val)
n.950A>G
n.810A>G
n.807A>G
dbSNP gnomAD v2 gnomAD v4
4g.98416750A>TCA357480141RAP1GDS1c.769A>T (p.Ile257Phe)
c.496A>T (p.Ile166Phe)
c.772A>T (p.Ile258Phe)
c.625A>T (p.Ile209Phe)
c.622A>T (p.Ile208Phe)
c.197A>T
c.529A>T (p.Ile177Phe)
c.382A>T (p.Ile128Phe)
c.235A>T (p.Ile79Phe)
n.950A>T
n.810A>T
n.807A>T
COSMIC
4g.98416751T>ACA357480155RAP1GDS1c.770T>A (p.Ile257Asn)
c.497T>A (p.Ile166Asn)
c.773T>A (p.Ile258Asn)
c.626T>A (p.Ile209Asn)
c.623T>A (p.Ile208Asn)
c.198T>A
c.530T>A (p.Ile177Asn)
c.383T>A (p.Ile128Asn)
c.236T>A (p.Ile79Asn)
n.951T>A
n.811T>A
n.808T>A
gnomAD v4
4g.98416751T>CCA357480162RAP1GDS1c.770T>C (p.Ile257Thr)
c.497T>C (p.Ile166Thr)
c.773T>C (p.Ile258Thr)
c.626T>C (p.Ile209Thr)
c.623T>C (p.Ile208Thr)
c.198T>C
c.530T>C (p.Ile177Thr)
c.383T>C (p.Ile128Thr)
c.236T>C (p.Ile79Thr)
n.951T>C
n.811T>C
n.808T>C
gnomAD v4
4g.98416751T>GCA357480158RAP1GDS1c.770T>G (p.Ile257Ser)
c.497T>G (p.Ile166Ser)
c.773T>G (p.Ile258Ser)
c.626T>G (p.Ile209Ser)
c.623T>G (p.Ile208Ser)
c.198T>G
c.530T>G (p.Ile177Ser)
c.383T>G (p.Ile128Ser)
c.236T>G (p.Ile79Ser)
n.951T>G
n.811T>G
n.808T>G
4g.98416752delCA2671483097RAP1GDS1c.771del (p.Lys258AsnfsTer9)
c.498del (p.Lys167AsnfsTer9)
c.774del (p.Lys259AsnfsTer9)
c.627del (p.Lys210AsnfsTer9)
c.624del (p.Lys209AsnfsTer9)
c.199del
c.531del (p.Lys178AsnfsTer9)
c.384del (p.Lys129AsnfsTer9)
c.237del (p.Lys80AsnfsTer9)
n.952del
n.812del
n.809del
gnomAD v4
4g.98416752T>ACA440300329RAP1GDS1c.771T>A (p.Ile257=)
c.498T>A (p.Ile166=)
c.774T>A (p.Ile258=)
c.627T>A (p.Ile209=)
c.624T>A (p.Ile208=)
c.199T>A
c.531T>A (p.Ile177=)
c.384T>A (p.Ile128=)
c.237T>A (p.Ile79=)
n.952T>A
n.812T>A
n.809T>A
4g.98416752T>CCA440300330RAP1GDS1c.771T>C (p.Ile257=)
c.498T>C (p.Ile166=)
c.774T>C (p.Ile258=)
c.627T>C (p.Ile209=)
c.624T>C (p.Ile208=)
c.199T>C
c.531T>C (p.Ile177=)
c.384T>C (p.Ile128=)
c.237T>C (p.Ile79=)
n.952T>C
n.812T>C
n.809T>C
4g.98416752T>GCA357480165RAP1GDS1c.771T>G (p.Ile257Met)
c.498T>G (p.Ile166Met)
c.774T>G (p.Ile258Met)
c.627T>G (p.Ile209Met)
c.624T>G (p.Ile208Met)
c.199T>G
c.531T>G (p.Ile177Met)
c.384T>G (p.Ile128Met)
c.237T>G (p.Ile79Met)
n.952T>G
n.812T>G
n.809T>G
gnomAD v4
4g.98416753A>CCA357480173RAP1GDS1c.772A>C (p.Lys258Gln)
c.499A>C (p.Lys167Gln)
c.775A>C (p.Lys259Gln)
c.628A>C (p.Lys210Gln)
c.625A>C (p.Lys209Gln)
c.200A>C
c.532A>C (p.Lys178Gln)
c.385A>C (p.Lys129Gln)
c.238A>C (p.Lys80Gln)
n.953A>C
n.813A>C
n.810A>C
4g.98416753A>GCA357480172RAP1GDS1c.772A>G (p.Lys258Glu)
c.499A>G (p.Lys167Glu)
c.775A>G (p.Lys259Glu)
c.628A>G (p.Lys210Glu)
c.625A>G (p.Lys209Glu)
c.200A>G
c.532A>G (p.Lys178Glu)
c.385A>G (p.Lys129Glu)
c.238A>G (p.Lys80Glu)
n.953A>G
n.813A>G
n.810A>G
gnomAD v4
4g.98416753A>TCA357480175RAP1GDS1c.772A>T (p.Lys258Ter)
c.499A>T (p.Lys167Ter)
c.775A>T (p.Lys259Ter)
c.628A>T (p.Lys210Ter)
c.625A>T (p.Lys209Ter)
c.200A>T
c.532A>T (p.Lys178Ter)
c.385A>T (p.Lys129Ter)
c.238A>T (p.Lys80Ter)
n.953A>T
n.813A>T
n.810A>T
4g.98416754A>CCA357480180RAP1GDS1c.773A>C (p.Lys258Thr)
c.500A>C (p.Lys167Thr)
c.776A>C (p.Lys259Thr)
c.629A>C (p.Lys210Thr)
c.626A>C (p.Lys209Thr)
c.201A>C
c.533A>C (p.Lys178Thr)
c.386A>C (p.Lys129Thr)
c.239A>C (p.Lys80Thr)
n.954A>C
n.814A>C
n.811A>C
4g.98416754A>GCA357480182RAP1GDS1c.773A>G (p.Lys258Arg)
c.500A>G (p.Lys167Arg)
c.776A>G (p.Lys259Arg)
c.629A>G (p.Lys210Arg)
c.626A>G (p.Lys209Arg)
c.201A>G
c.533A>G (p.Lys178Arg)
c.386A>G (p.Lys129Arg)
c.239A>G (p.Lys80Arg)
n.954A>G
n.814A>G
n.811A>G
4g.98416754A>TCA357480184RAP1GDS1c.773A>T (p.Lys258Ile)
c.500A>T (p.Lys167Ile)
c.776A>T (p.Lys259Ile)
c.629A>T (p.Lys210Ile)
c.626A>T (p.Lys209Ile)
c.201A>T
c.533A>T (p.Lys178Ile)
c.386A>T (p.Lys129Ile)
c.239A>T (p.Lys80Ile)
n.954A>T
n.814A>T
n.811A>T
4g.98416755A=CA1479543578RAP1GDS1c.774A= (p.Lys258=)
c.501A= (p.Lys167=)
c.777A= (p.Lys259=)
c.630A= (p.Lys210=)
c.627A= (p.Lys209=)
c.202A=
c.534A= (p.Lys178=)
c.387A= (p.Lys129=)
c.240A= (p.Lys80=)
n.955A=
n.815A=
n.812A=
4g.98416755A>CCA357480186RAP1GDS1c.774A>C (p.Lys258Asn)
c.501A>C (p.Lys167Asn)
c.777A>C (p.Lys259Asn)
c.630A>C (p.Lys210Asn)
c.627A>C (p.Lys209Asn)
c.202A>C
c.534A>C (p.Lys178Asn)
c.387A>C (p.Lys129Asn)
c.240A>C (p.Lys80Asn)
n.955A>C
n.815A>C
n.812A>C
4g.98416755A>GCA440300331RAP1GDS1c.774A>G (p.Lys258=)
c.501A>G (p.Lys167=)
c.777A>G (p.Lys259=)
c.630A>G (p.Lys210=)
c.627A>G (p.Lys209=)
c.202A>G
c.534A>G (p.Lys178=)
c.387A>G (p.Lys129=)
c.240A>G (p.Lys80=)
n.955A>G
n.815A>G
n.812A>G
dbSNP gnomAD v3 gnomAD v4
4g.98416755A>TCA357480188RAP1GDS1c.774A>T (p.Lys258Asn)
c.501A>T (p.Lys167Asn)
c.777A>T (p.Lys259Asn)
c.630A>T (p.Lys210Asn)
c.627A>T (p.Lys209Asn)
c.202A>T
c.534A>T (p.Lys178Asn)
c.387A>T (p.Lys129Asn)
c.240A>T (p.Lys80Asn)
n.955A>T
n.815A>T
n.812A>T
4g.98416756C>ACA357480191RAP1GDS1c.775C>A (p.Leu259Ile)
c.502C>A (p.Leu168Ile)
c.778C>A (p.Leu260Ile)
c.631C>A (p.Leu211Ile)
c.628C>A (p.Leu210Ile)
c.203C>A
c.535C>A (p.Leu179Ile)
c.388C>A (p.Leu130Ile)
c.241C>A (p.Leu81Ile)
n.956C>A
n.816C>A
n.813C>A
gnomAD v4
4g.98416756C>GCA357480197RAP1GDS1c.775C>G (p.Leu259Val)
c.502C>G (p.Leu168Val)
c.778C>G (p.Leu260Val)
c.631C>G (p.Leu211Val)
c.628C>G (p.Leu210Val)
c.203C>G
c.535C>G (p.Leu179Val)
c.388C>G (p.Leu130Val)
c.241C>G (p.Leu81Val)
n.956C>G
n.816C>G
n.813C>G
gnomAD v4
4g.98416756C>TCA440300334RAP1GDS1c.775C>T (p.Leu259=)
c.502C>T (p.Leu168=)
c.778C>T (p.Leu260=)
c.631C>T (p.Leu211=)
c.628C>T (p.Leu210=)
c.203C>T
c.535C>T (p.Leu179=)
c.388C>T (p.Leu130=)
c.241C>T (p.Leu81=)
n.956C>T
n.816C>T
n.813C>T
gnomAD v4
4g.98416757T>ACA357480201RAP1GDS1c.776T>A (p.Leu259Gln)
c.503T>A (p.Leu168Gln)
c.779T>A (p.Leu260Gln)
c.632T>A (p.Leu211Gln)
c.629T>A (p.Leu210Gln)
c.204T>A
c.536T>A (p.Leu179Gln)
c.389T>A (p.Leu130Gln)
c.242T>A (p.Leu81Gln)
n.957T>A
n.817T>A
n.814T>A
4g.98416757T>CCA357480205RAP1GDS1c.776T>C (p.Leu259Pro)
c.503T>C (p.Leu168Pro)
c.779T>C (p.Leu260Pro)
c.632T>C (p.Leu211Pro)
c.629T>C (p.Leu210Pro)
c.204T>C
c.536T>C (p.Leu179Pro)
c.389T>C (p.Leu130Pro)
c.242T>C (p.Leu81Pro)
n.957T>C
n.817T>C
n.814T>C
dbSNP gnomAD v4
4g.98416757T>GCA357480208RAP1GDS1c.776T>G (p.Leu259Arg)
c.503T>G (p.Leu168Arg)
c.779T>G (p.Leu260Arg)
c.632T>G (p.Leu211Arg)
c.629T>G (p.Leu210Arg)
c.204T>G
c.536T>G (p.Leu179Arg)
c.389T>G (p.Leu130Arg)
c.242T>G (p.Leu81Arg)
n.957T>G
n.817T>G
n.814T>G
4g.98416757T=CA1479543579RAP1GDS1c.776T= (p.Leu259=)
c.503T= (p.Leu168=)
c.779T= (p.Leu260=)
c.632T= (p.Leu211=)
c.629T= (p.Leu210=)
c.204T=
c.536T= (p.Leu179=)
c.389T= (p.Leu130=)
c.242T= (p.Leu81=)
n.957T=
n.817T=
n.814T=
4g.98416758A=CA1479543580RAP1GDS1c.777A= (p.Leu259=)
c.504A= (p.Leu168=)
c.780A= (p.Leu260=)
c.633A= (p.Leu211=)
c.630A= (p.Leu210=)
c.205A=
c.537A= (p.Leu179=)
c.390A= (p.Leu130=)
c.243A= (p.Leu81=)
n.958A=
n.818A=
n.815A=
4g.98416758A>CCA440300336RAP1GDS1c.777A>C (p.Leu259=)
c.504A>C (p.Leu168=)
c.780A>C (p.Leu260=)
c.633A>C (p.Leu211=)
c.630A>C (p.Leu210=)
c.205A>C
c.537A>C (p.Leu179=)
c.390A>C (p.Leu130=)
c.243A>C (p.Leu81=)
n.958A>C
n.818A>C
n.815A>C
4g.98416758A>GCA440300337RAP1GDS1c.777A>G (p.Leu259=)
c.504A>G (p.Leu168=)
c.780A>G (p.Leu260=)
c.633A>G (p.Leu211=)
c.630A>G (p.Leu210=)
c.205A>G
c.537A>G (p.Leu179=)
c.390A>G (p.Leu130=)
c.243A>G (p.Leu81=)
n.958A>G
n.818A>G
n.815A>G
dbSNP gnomAD v2 gnomAD v4
4g.98416758A>TCA440300338RAP1GDS1c.777A>T (p.Leu259=)
c.504A>T (p.Leu168=)
c.780A>T (p.Leu260=)
c.633A>T (p.Leu211=)
c.630A>T (p.Leu210=)
c.205A>T
c.537A>T (p.Leu179=)
c.390A>T (p.Leu130=)
c.243A>T (p.Leu81=)
n.958A>T
n.818A>T
n.815A>T
4g.98416759C>ACA357480214RAP1GDS1c.778C>A (p.Gln260Lys)
c.505C>A (p.Gln169Lys)
c.781C>A (p.Gln261Lys)
c.634C>A (p.Gln212Lys)
c.631C>A (p.Gln211Lys)
c.206C>A
c.538C>A (p.Gln180Lys)
c.391C>A (p.Gln131Lys)
c.244C>A (p.Gln82Lys)
n.959C>A
n.819C>A
n.816C>A
gnomAD v4
4g.98416759C>GCA357480216RAP1GDS1c.778C>G (p.Gln260Glu)
c.505C>G (p.Gln169Glu)
c.781C>G (p.Gln261Glu)
c.634C>G (p.Gln212Glu)
c.631C>G (p.Gln211Glu)
c.206C>G
c.538C>G (p.Gln180Glu)
c.391C>G (p.Gln131Glu)
c.244C>G (p.Gln82Glu)
n.959C>G
n.819C>G
n.816C>G
4g.98416759C>TCA357480223RAP1GDS1c.778C>T (p.Gln260Ter)
c.505C>T (p.Gln169Ter)
c.781C>T (p.Gln261Ter)
c.634C>T (p.Gln212Ter)
c.631C>T (p.Gln211Ter)
c.206C>T
c.538C>T (p.Gln180Ter)
c.391C>T (p.Gln131Ter)
c.244C>T (p.Gln82Ter)
n.959C>T
n.819C>T
n.816C>T
4g.98416760A>CCA357480227RAP1GDS1c.779A>C (p.Gln260Pro)
c.506A>C (p.Gln169Pro)
c.782A>C (p.Gln261Pro)
c.635A>C (p.Gln212Pro)
c.632A>C (p.Gln211Pro)
c.207A>C
c.539A>C (p.Gln180Pro)
c.392A>C (p.Gln131Pro)
c.245A>C (p.Gln82Pro)
n.960A>C
n.820A>C
n.817A>C
4g.98416760A>GCA357480236RAP1GDS1c.779A>G (p.Gln260Arg)
c.506A>G (p.Gln169Arg)
c.782A>G (p.Gln261Arg)
c.635A>G (p.Gln212Arg)
c.632A>G (p.Gln211Arg)
c.207A>G
c.539A>G (p.Gln180Arg)
c.392A>G (p.Gln131Arg)
c.245A>G (p.Gln82Arg)
n.960A>G
n.820A>G
n.817A>G
4g.98416760A>TCA357480229RAP1GDS1c.779A>T (p.Gln260Leu)
c.506A>T (p.Gln169Leu)
c.782A>T (p.Gln261Leu)
c.635A>T (p.Gln212Leu)
c.632A>T (p.Gln211Leu)
c.207A>T
c.539A>T (p.Gln180Leu)
c.392A>T (p.Gln131Leu)
c.245A>T (p.Gln82Leu)
n.960A>T
n.820A>T
n.817A>T
4g.98416761G>ACA440300342RAP1GDS1c.780G>A (p.Gln260=)
c.507G>A (p.Gln169=)
c.783G>A (p.Gln261=)
c.636G>A (p.Gln212=)
c.633G>A (p.Gln211=)
c.208G>A
c.540G>A (p.Gln180=)
c.393G>A (p.Gln131=)
c.246G>A (p.Gln82=)
n.961G>A
n.821G>A
n.818G>A
4g.98416761G>CCA357480241RAP1GDS1c.780G>C (p.Gln260His)
c.507G>C (p.Gln169His)
c.783G>C (p.Gln261His)
c.636G>C (p.Gln212His)
c.633G>C (p.Gln211His)
c.208G>C
c.540G>C (p.Gln180His)
c.393G>C (p.Gln131His)
c.246G>C (p.Gln82His)
n.961G>C
n.821G>C
n.818G>C
gnomAD v4
4g.98416761G>TCA357480243RAP1GDS1c.780G>T (p.Gln260His)
c.507G>T (p.Gln169His)
c.783G>T (p.Gln261His)
c.636G>T (p.Gln212His)
c.633G>T (p.Gln211His)
c.208G>T
c.540G>T (p.Gln180His)
c.393G>T (p.Gln131His)
c.246G>T (p.Gln82His)
n.961G>T
n.821G>T
n.818G>T
4g.98416762C>ACA357480246RAP1GDS1c.781C>A (p.Leu261Met)
c.508C>A (p.Leu170Met)
c.784C>A (p.Leu262Met)
c.637C>A (p.Leu213Met)
c.634C>A (p.Leu212Met)
c.209C>A
c.541C>A (p.Leu181Met)
c.394C>A (p.Leu132Met)
c.247C>A (p.Leu83Met)
n.962C>A
n.822C>A
n.819C>A
gnomAD v4
4g.98416762C>GCA357480249RAP1GDS1c.781C>G (p.Leu261Val)
c.508C>G (p.Leu170Val)
c.784C>G (p.Leu262Val)
c.637C>G (p.Leu213Val)
c.634C>G (p.Leu212Val)
c.209C>G
c.541C>G (p.Leu181Val)
c.394C>G (p.Leu132Val)
c.247C>G (p.Leu83Val)
n.962C>G
n.822C>G
n.819C>G
4g.98416762C>TCA440300344RAP1GDS1c.781C>T (p.Leu261=)
c.508C>T (p.Leu170=)
c.784C>T (p.Leu262=)
c.637C>T (p.Leu213=)
c.634C>T (p.Leu212=)
c.209C>T
c.541C>T (p.Leu181=)
c.394C>T (p.Leu132=)
c.247C>T (p.Leu83=)
n.962C>T
n.822C>T
n.819C>T
gnomAD v4
4g.98416763T>ACA357480259RAP1GDS1c.782T>A (p.Leu261Gln)
c.509T>A (p.Leu170Gln)
c.785T>A (p.Leu262Gln)
c.638T>A (p.Leu213Gln)
c.635T>A (p.Leu212Gln)
c.210T>A
c.542T>A (p.Leu181Gln)
c.395T>A (p.Leu132Gln)
c.248T>A (p.Leu83Gln)
n.963T>A
n.823T>A
n.820T>A
4g.98416763T>CCA357480261RAP1GDS1c.782T>C (p.Leu261Pro)
c.509T>C (p.Leu170Pro)
c.785T>C (p.Leu262Pro)
c.638T>C (p.Leu213Pro)
c.635T>C (p.Leu212Pro)
c.210T>C
c.542T>C (p.Leu181Pro)
c.395T>C (p.Leu132Pro)
c.248T>C (p.Leu83Pro)
n.963T>C
n.823T>C
n.820T>C
4g.98416763T>GCA357480264RAP1GDS1c.782T>G (p.Leu261Arg)
c.509T>G (p.Leu170Arg)
c.785T>G (p.Leu262Arg)
c.638T>G (p.Leu213Arg)
c.635T>G (p.Leu212Arg)
c.210T>G
c.542T>G (p.Leu181Arg)
c.395T>G (p.Leu132Arg)
c.248T>G (p.Leu83Arg)
n.963T>G
n.823T>G
n.820T>G
4g.98416764G>ACA101595099RAP1GDS1c.783G>A (p.Leu261=)
c.510G>A (p.Leu170=)
c.786G>A (p.Leu262=)
c.639G>A (p.Leu213=)
c.636G>A (p.Leu212=)
c.211G>A
c.543G>A (p.Leu181=)
c.396G>A (p.Leu132=)
c.249G>A (p.Leu83=)
n.964G>A
n.824G>A
n.821G>A
dbSNP gnomAD v4
4g.98416764G>CCA440300345RAP1GDS1c.783G>C (p.Leu261=)
c.510G>C (p.Leu170=)
c.786G>C (p.Leu262=)
c.639G>C (p.Leu213=)
c.636G>C (p.Leu212=)
c.211G>C
c.543G>C (p.Leu181=)
c.396G>C (p.Leu132=)
c.249G>C (p.Leu83=)
n.964G>C
n.824G>C
n.821G>C
4g.98416764G=CA1479543581RAP1GDS1c.783G= (p.Leu261=)
c.510G= (p.Leu170=)
c.786G= (p.Leu262=)
c.639G= (p.Leu213=)
c.636G= (p.Leu212=)
c.211G=
c.543G= (p.Leu181=)
c.396G= (p.Leu132=)
c.249G= (p.Leu83=)
n.964G=
n.824G=
n.821G=
4g.98416764G>TCA440300346RAP1GDS1c.783G>T (p.Leu261=)
c.510G>T (p.Leu170=)
c.786G>T (p.Leu262=)
c.639G>T (p.Leu213=)
c.636G>T (p.Leu212=)
c.211G>T
c.543G>T (p.Leu181=)
c.396G>T (p.Leu132=)
c.249G>T (p.Leu83=)
n.964G>T
n.824G>T
n.821G>T
4g.98416765G>ACA3017192RAP1GDS1c.784G>A (p.Val262Ile)
c.511G>A (p.Val171Ile)
c.787G>A (p.Val263Ile)
c.640G>A (p.Val214Ile)
c.637G>A (p.Val213Ile)
c.212G>A
c.544G>A (p.Val182Ile)
c.397G>A (p.Val133Ile)
c.250G>A (p.Val84Ile)
n.965G>A
n.825G>A
n.822G>A
dbSNP ExAC gnomAD v2 gnomAD v4
4g.98416765G>CCA357480277RAP1GDS1c.784G>C (p.Val262Leu)
c.511G>C (p.Val171Leu)
c.787G>C (p.Val263Leu)
c.640G>C (p.Val214Leu)
c.637G>C (p.Val213Leu)
c.212G>C
c.544G>C (p.Val182Leu)
c.397G>C (p.Val133Leu)
c.250G>C (p.Val84Leu)
n.965G>C
n.825G>C
n.822G>C
4g.98416765G=CA1479543582RAP1GDS1c.784G= (p.Val262=)
c.511G= (p.Val171=)
c.787G= (p.Val263=)
c.640G= (p.Val214=)
c.637G= (p.Val213=)
c.212G=
c.544G= (p.Val182=)
c.397G= (p.Val133=)
c.250G= (p.Val84=)
n.965G=
n.825G=
n.822G=
4g.98416765G>TCA357480279RAP1GDS1c.784G>T (p.Val262Phe)
c.511G>T (p.Val171Phe)
c.787G>T (p.Val263Phe)
c.640G>T (p.Val214Phe)
c.637G>T (p.Val213Phe)
c.212G>T
c.544G>T (p.Val182Phe)
c.397G>T (p.Val133Phe)
c.250G>T (p.Val84Phe)
n.965G>T
n.825G>T
n.822G>T
4g.98416766T>ACA357480288RAP1GDS1c.785T>A (p.Val262Asp)
c.512T>A (p.Val171Asp)
c.788T>A (p.Val263Asp)
c.641T>A (p.Val214Asp)
c.638T>A (p.Val213Asp)
c.213T>A
c.545T>A (p.Val182Asp)
c.398T>A (p.Val133Asp)
c.251T>A (p.Val84Asp)
n.966T>A
n.826T>A
n.823T>A
4g.98416766T>CCA357480284RAP1GDS1c.785T>C (p.Val262Ala)
c.512T>C (p.Val171Ala)
c.788T>C (p.Val263Ala)
c.641T>C (p.Val214Ala)
c.638T>C (p.Val213Ala)
c.213T>C
c.545T>C (p.Val182Ala)
c.398T>C (p.Val133Ala)
c.251T>C (p.Val84Ala)
n.966T>C
n.826T>C
n.823T>C
4g.98416766T>GCA357480281RAP1GDS1c.785T>G (p.Val262Gly)
c.512T>G (p.Val171Gly)
c.788T>G (p.Val263Gly)
c.641T>G (p.Val214Gly)
c.638T>G (p.Val213Gly)
c.213T>G
c.545T>G (p.Val182Gly)
c.398T>G (p.Val133Gly)
c.251T>G (p.Val84Gly)
n.966T>G
n.826T>G
n.823T>G
4g.98416767T>ACA440300347RAP1GDS1c.786T>A (p.Val262=)
c.513T>A (p.Val171=)
c.789T>A (p.Val263=)
c.642T>A (p.Val214=)
c.639T>A (p.Val213=)
c.214T>A
c.546T>A (p.Val182=)
c.399T>A (p.Val133=)
c.252T>A (p.Val84=)
n.967T>A
n.827T>A
n.824T>A
4g.98416767T>CCA440300349RAP1GDS1c.786T>C (p.Val262=)
c.513T>C (p.Val171=)
c.789T>C (p.Val263=)
c.642T>C (p.Val214=)
c.639T>C (p.Val213=)
c.214T>C
c.546T>C (p.Val182=)
c.399T>C (p.Val133=)
c.252T>C (p.Val84=)
n.967T>C
n.827T>C
n.824T>C
dbSNP gnomAD v2 gnomAD v4
4g.98416767T>GCA440300348RAP1GDS1c.786T>G (p.Val262=)
c.513T>G (p.Val171=)
c.789T>G (p.Val263=)
c.642T>G (p.Val214=)
c.639T>G (p.Val213=)
c.214T>G
c.546T>G (p.Val182=)
c.399T>G (p.Val133=)
c.252T>G (p.Val84=)
n.967T>G
n.827T>G
n.824T>G
4g.98416767T=CA1479543583RAP1GDS1c.786T= (p.Val262=)
c.513T= (p.Val171=)
c.789T= (p.Val263=)
c.642T= (p.Val214=)
c.639T= (p.Val213=)
c.214T=
c.546T= (p.Val182=)
c.399T= (p.Val133=)
c.252T= (p.Val84=)
n.967T=
n.827T=
n.824T=
4g.98416768G>ACA357480290RAP1GDS1c.787G>A (p.Glu263Lys)
c.514G>A (p.Glu172Lys)
c.790G>A (p.Glu264Lys)
c.643G>A (p.Glu215Lys)
c.640G>A (p.Glu214Lys)
c.215G>A
c.547G>A (p.Glu183Lys)
c.400G>A (p.Glu134Lys)
c.253G>A (p.Glu85Lys)
n.968G>A
n.828G>A
n.825G>A
4g.98416768G>CCA357480292RAP1GDS1c.787G>C (p.Glu263Gln)
c.514G>C (p.Glu172Gln)
c.790G>C (p.Glu264Gln)
c.643G>C (p.Glu215Gln)
c.640G>C (p.Glu214Gln)
c.215G>C
c.547G>C (p.Glu183Gln)
c.400G>C (p.Glu134Gln)
c.253G>C (p.Glu85Gln)
n.968G>C
n.828G>C
n.825G>C
4g.98416768G>TCA357480294RAP1GDS1c.787G>T (p.Glu263Ter)
c.514G>T (p.Glu172Ter)
c.790G>T (p.Glu264Ter)
c.643G>T (p.Glu215Ter)
c.640G>T (p.Glu214Ter)
c.215G>T
c.547G>T (p.Glu183Ter)
c.400G>T (p.Glu134Ter)
c.253G>T (p.Glu85Ter)
n.968G>T
n.828G>T
n.825G>T
4g.98416769A>CCA357480296RAP1GDS1c.788A>C (p.Glu263Ala)
c.515A>C (p.Glu172Ala)
c.791A>C (p.Glu264Ala)
c.644A>C (p.Glu215Ala)
c.641A>C (p.Glu214Ala)
c.216A>C
c.548A>C (p.Glu183Ala)
c.401A>C (p.Glu134Ala)
c.254A>C (p.Glu85Ala)
n.969A>C
n.829A>C
n.826A>C
4g.98416769A>GCA357480299RAP1GDS1c.788A>G (p.Glu263Gly)
c.515A>G (p.Glu172Gly)
c.791A>G (p.Glu264Gly)
c.644A>G (p.Glu215Gly)
c.641A>G (p.Glu214Gly)
c.216A>G
c.548A>G (p.Glu183Gly)
c.401A>G (p.Glu134Gly)
c.254A>G (p.Glu85Gly)
n.969A>G
n.829A>G
n.826A>G
4g.98416769A>TCA357480302RAP1GDS1c.788A>T (p.Glu263Val)
c.515A>T (p.Glu172Val)
c.791A>T (p.Glu264Val)
c.644A>T (p.Glu215Val)
c.641A>T (p.Glu214Val)
c.216A>T
c.548A>T (p.Glu183Val)
c.401A>T (p.Glu134Val)
c.254A>T (p.Glu85Val)
n.969A>T
n.829A>T
n.826A>T
4g.98416770A=CA1479543584RAP1GDS1c.789A= (p.Glu263=)
c.516A= (p.Glu172=)
c.792A= (p.Glu264=)
c.645A= (p.Glu215=)
c.642A= (p.Glu214=)
c.217A=
c.549A= (p.Glu183=)
c.402A= (p.Glu134=)
c.255A= (p.Glu85=)
n.970A=
n.830A=
n.827A=
4g.98416770A>CCA357480311RAP1GDS1c.789A>C (p.Glu263Asp)
c.516A>C (p.Glu172Asp)
c.792A>C (p.Glu264Asp)
c.645A>C (p.Glu215Asp)
c.642A>C (p.Glu214Asp)
c.217A>C
c.549A>C (p.Glu183Asp)
c.402A>C (p.Glu134Asp)
c.255A>C (p.Glu85Asp)
n.970A>C
n.830A>C
n.827A>C
4g.98416770A>GCA101595106RAP1GDS1c.789A>G (p.Glu263=)
c.516A>G (p.Glu172=)
c.792A>G (p.Glu264=)
c.645A>G (p.Glu215=)
c.642A>G (p.Glu214=)
c.217A>G
c.549A>G (p.Glu183=)
c.402A>G (p.Glu134=)
c.255A>G (p.Glu85=)
n.970A>G
n.830A>G
n.827A>G
dbSNP
4g.98416770A>TCA357480316RAP1GDS1c.789A>T (p.Glu263Asp)
c.516A>T (p.Glu172Asp)
c.792A>T (p.Glu264Asp)
c.645A>T (p.Glu215Asp)
c.642A>T (p.Glu214Asp)
c.217A>T
c.549A>T (p.Glu183Asp)
c.402A>T (p.Glu134Asp)
c.255A>T (p.Glu85Asp)
n.970A>T
n.830A>T
n.827A>T
4g.98416771G>ACA357480317RAP1GDS1c.790G>A (p.Ala264Thr)
c.517G>A (p.Ala173Thr)
c.793G>A (p.Ala265Thr)
c.646G>A (p.Ala216Thr)
c.643G>A (p.Ala215Thr)
c.218G>A
c.550G>A (p.Ala184Thr)
c.403G>A (p.Ala135Thr)
c.256G>A (p.Ala86Thr)
n.971G>A
n.831G>A
n.828G>A
4g.98416771G>CCA357480320RAP1GDS1c.790G>C (p.Ala264Pro)
c.517G>C (p.Ala173Pro)
c.793G>C (p.Ala265Pro)
c.646G>C (p.Ala216Pro)
c.643G>C (p.Ala215Pro)
c.218G>C
c.550G>C (p.Ala184Pro)
c.403G>C (p.Ala135Pro)
c.256G>C (p.Ala86Pro)
n.971G>C
n.831G>C
n.828G>C
4g.98416771G>TCA357480322RAP1GDS1c.790G>T (p.Ala264Ser)
c.517G>T (p.Ala173Ser)
c.793G>T (p.Ala265Ser)
c.646G>T (p.Ala216Ser)
c.643G>T (p.Ala215Ser)
c.218G>T
c.550G>T (p.Ala184Ser)
c.403G>T (p.Ala135Ser)
c.256G>T (p.Ala86Ser)
n.971G>T
n.831G>T
n.828G>T
4g.98416772C>ACA357480330RAP1GDS1c.791C>A (p.Ala264Glu)
c.518C>A (p.Ala173Glu)
c.794C>A (p.Ala265Glu)
c.647C>A (p.Ala216Glu)
c.644C>A (p.Ala215Glu)
c.219C>A
c.551C>A (p.Ala184Glu)
c.404C>A (p.Ala135Glu)
c.257C>A (p.Ala86Glu)
n.972C>A
n.832C>A
n.829C>A
4g.98416772C>GCA357480326RAP1GDS1c.791C>G (p.Ala264Gly)
c.518C>G (p.Ala173Gly)
c.794C>G (p.Ala265Gly)
c.647C>G (p.Ala216Gly)
c.644C>G (p.Ala215Gly)
c.219C>G
c.551C>G (p.Ala184Gly)
c.404C>G (p.Ala135Gly)
c.257C>G (p.Ala86Gly)
n.972C>G
n.832C>G
n.829C>G
4g.98416772C>TCA357480325RAP1GDS1c.791C>T (p.Ala264Val)
c.518C>T (p.Ala173Val)
c.794C>T (p.Ala265Val)
c.647C>T (p.Ala216Val)
c.644C>T (p.Ala215Val)
c.219C>T
c.551C>T (p.Ala184Val)
c.404C>T (p.Ala135Val)
c.257C>T (p.Ala86Val)
n.972C>T
n.832C>T
n.829C>T
4g.98416773A>CCA440300350RAP1GDS1c.792A>C (p.Ala264=)
c.519A>C (p.Ala173=)
c.795A>C (p.Ala265=)
c.648A>C (p.Ala216=)
c.645A>C (p.Ala215=)
c.220A>C
c.552A>C (p.Ala184=)
c.405A>C (p.Ala135=)
c.258A>C (p.Ala86=)
n.973A>C
n.833A>C
n.830A>C
4g.98416773A>GCA440300352RAP1GDS1c.792A>G (p.Ala264=)
c.519A>G (p.Ala173=)
c.795A>G (p.Ala265=)
c.648A>G (p.Ala216=)
c.645A>G (p.Ala215=)
c.220A>G
c.552A>G (p.Ala184=)
c.405A>G (p.Ala135=)
c.258A>G (p.Ala86=)
n.973A>G
n.833A>G
n.830A>G
gnomAD v4
4g.98416773A>TCA440300351RAP1GDS1c.792A>T (p.Ala264=)
c.519A>T (p.Ala173=)
c.795A>T (p.Ala265=)
c.648A>T (p.Ala216=)
c.645A>T (p.Ala215=)
c.220A>T
c.552A>T (p.Ala184=)
c.405A>T (p.Ala135=)
c.258A>T (p.Ala86=)
n.973A>T
n.833A>T
n.830A>T
4g.98416774G>ACA357480333RAP1GDS1c.793G>A (p.Gly265Ser)
c.520G>A (p.Gly174Ser)
c.796G>A (p.Gly266Ser)
c.649G>A (p.Gly217Ser)
c.646G>A (p.Gly216Ser)
c.221G>A
c.553G>A (p.Gly185Ser)
c.406G>A (p.Gly136Ser)
c.259G>A (p.Gly87Ser)
n.974G>A
n.834G>A
n.831G>A
4g.98416774G>CCA357480337RAP1GDS1c.793G>C (p.Gly265Arg)
c.520G>C (p.Gly174Arg)
c.796G>C (p.Gly266Arg)
c.649G>C (p.Gly217Arg)
c.646G>C (p.Gly216Arg)
c.221G>C
c.553G>C (p.Gly185Arg)
c.406G>C (p.Gly136Arg)
c.259G>C (p.Gly87Arg)
n.974G>C
n.834G>C
n.831G>C
4g.98416774G>TCA357480351RAP1GDS1c.793G>T (p.Gly265Cys)
c.520G>T (p.Gly174Cys)
c.796G>T (p.Gly266Cys)
c.649G>T (p.Gly217Cys)
c.646G>T (p.Gly216Cys)
c.221G>T
c.553G>T (p.Gly185Cys)
c.406G>T (p.Gly136Cys)
c.259G>T (p.Gly87Cys)
n.974G>T
n.834G>T
n.831G>T
4g.98416775G>ACA357480353RAP1GDS1c.794G>A (p.Gly265Asp)
c.521G>A (p.Gly174Asp)
c.797G>A (p.Gly266Asp)
c.650G>A (p.Gly217Asp)
c.647G>A (p.Gly216Asp)
c.222G>A
c.554G>A (p.Gly185Asp)
c.407G>A (p.Gly136Asp)
c.260G>A (p.Gly87Asp)
n.975G>A
n.835G>A
n.832G>A
4g.98416775G>CCA357480356RAP1GDS1c.794G>C (p.Gly265Ala)
c.521G>C (p.Gly174Ala)
c.797G>C (p.Gly266Ala)
c.650G>C (p.Gly217Ala)
c.647G>C (p.Gly216Ala)
c.222G>C
c.554G>C (p.Gly185Ala)
c.407G>C (p.Gly136Ala)
c.260G>C (p.Gly87Ala)
n.975G>C
n.835G>C
n.832G>C
4g.98416775G>TCA357480357RAP1GDS1c.794G>T (p.Gly265Val)
c.521G>T (p.Gly174Val)
c.797G>T (p.Gly266Val)
c.650G>T (p.Gly217Val)
c.647G>T (p.Gly216Val)
c.222G>T
c.554G>T (p.Gly185Val)
c.407G>T (p.Gly136Val)
c.260G>T (p.Gly87Val)
n.975G>T
n.835G>T
n.832G>T
gnomAD v4
4g.98416776C>ACA440300353RAP1GDS1c.795C>A (p.Gly265=)
c.522C>A (p.Gly174=)
c.798C>A (p.Gly266=)
c.651C>A (p.Gly217=)
c.648C>A (p.Gly216=)
c.223C>A
c.555C>A (p.Gly185=)
c.408C>A (p.Gly136=)
c.261C>A (p.Gly87=)
n.976C>A
n.836C>A
n.833C>A
4g.98416776C>GCA440300354RAP1GDS1c.795C>G (p.Gly265=)
c.522C>G (p.Gly174=)
c.798C>G (p.Gly266=)
c.651C>G (p.Gly217=)
c.648C>G (p.Gly216=)
c.223C>G
c.555C>G (p.Gly185=)
c.408C>G (p.Gly136=)
c.261C>G (p.Gly87=)
n.976C>G
n.836C>G
n.833C>G
4g.98416776C>TCA440300355RAP1GDS1c.795C>T (p.Gly265=)
c.522C>T (p.Gly174=)
c.798C>T (p.Gly266=)
c.651C>T (p.Gly217=)
c.648C>T (p.Gly216=)
c.223C>T
c.555C>T (p.Gly185=)
c.408C>T (p.Gly136=)
c.261C>T (p.Gly87=)
n.976C>T
n.836C>T
n.833C>T
gnomAD v4
4g.98416777C>ACA357480358RAP1GDS1c.796C>A (p.Leu266Ile)
c.523C>A (p.Leu175Ile)
c.799C>A (p.Leu267Ile)
c.652C>A (p.Leu218Ile)
c.649C>A (p.Leu217Ile)
c.224C>A
c.556C>A (p.Leu186Ile)
c.409C>A (p.Leu137Ile)
c.262C>A (p.Leu88Ile)
n.977C>A
n.837C>A
n.834C>A
4g.98416777C=CA1479543585RAP1GDS1c.796C= (p.Leu266=)
c.523C= (p.Leu175=)
c.799C= (p.Leu267=)
c.652C= (p.Leu218=)
c.649C= (p.Leu217=)
c.224C=
c.556C= (p.Leu186=)
c.409C= (p.Leu137=)
c.262C= (p.Leu88=)
n.977C=
n.837C=
n.834C=
4g.98416777C>GCA3017193RAP1GDS1c.796C>G (p.Leu266Val)
c.523C>G (p.Leu175Val)
c.799C>G (p.Leu267Val)
c.652C>G (p.Leu218Val)
c.649C>G (p.Leu217Val)
c.224C>G
c.556C>G (p.Leu186Val)
c.409C>G (p.Leu137Val)
c.262C>G (p.Leu88Val)
n.977C>G
n.837C>G
n.834C>G
dbSNP ExAC gnomAD v2 gnomAD v4
4g.98416777C>TCA440300356RAP1GDS1c.796C>T (p.Leu266=)
c.523C>T (p.Leu175=)
c.799C>T (p.Leu267=)
c.652C>T (p.Leu218=)
c.649C>T (p.Leu217=)
c.224C>T
c.556C>T (p.Leu186=)
c.409C>T (p.Leu137=)
c.262C>T (p.Leu88=)
n.977C>T
n.837C>T
n.834C>T
4g.98416778T>ACA357480360RAP1GDS1c.797T>A (p.Leu266Gln)
c.524T>A (p.Leu175Gln)
c.800T>A (p.Leu267Gln)
c.653T>A (p.Leu218Gln)
c.650T>A (p.Leu217Gln)
c.225T>A
c.557T>A (p.Leu186Gln)
c.410T>A (p.Leu137Gln)
c.263T>A (p.Leu88Gln)
n.978T>A
n.838T>A
n.835T>A
4g.98416778T>CCA357480362RAP1GDS1c.797T>C (p.Leu266Pro)
c.524T>C (p.Leu175Pro)
c.800T>C (p.Leu267Pro)
c.653T>C (p.Leu218Pro)
c.650T>C (p.Leu217Pro)
c.225T>C
c.557T>C (p.Leu186Pro)
c.410T>C (p.Leu137Pro)
c.263T>C (p.Leu88Pro)
n.978T>C
n.838T>C
n.835T>C
4g.98416778T>GCA357480370RAP1GDS1c.797T>G (p.Leu266Arg)
c.524T>G (p.Leu175Arg)
c.800T>G (p.Leu267Arg)
c.653T>G (p.Leu218Arg)
c.650T>G (p.Leu217Arg)
c.225T>G
c.557T>G (p.Leu186Arg)
c.410T>G (p.Leu137Arg)
c.263T>G (p.Leu88Arg)
n.978T>G
n.838T>G
n.835T>G
4g.98416778dupCA3017194RAP1GDS1c.797dup (p.Val267SerfsTer14)
c.524dup (p.Val176SerfsTer14)
c.800dup (p.Val268SerfsTer14)
c.653dup (p.Val219SerfsTer14)
c.650dup (p.Val218SerfsTer14)
c.225dup
c.557dup (p.Val187SerfsTer14)
c.410dup (p.Val138SerfsTer14)
c.263dup (p.Val89SerfsTer14)
n.978dup
n.838dup
n.835dup
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.98416779A=CA1479543586RAP1GDS1c.798A= (p.Leu266=)
c.525A= (p.Leu175=)
c.801A= (p.Leu267=)
c.654A= (p.Leu218=)
c.651A= (p.Leu217=)
c.226A=
c.558A= (p.Leu186=)
c.411A= (p.Leu137=)
c.264A= (p.Leu88=)
n.979A=
n.839A=
n.836A=
4g.98416779A>CCA440300359RAP1GDS1c.798A>C (p.Leu266=)
c.525A>C (p.Leu175=)
c.801A>C (p.Leu267=)
c.654A>C (p.Leu218=)
c.651A>C (p.Leu217=)
c.226A>C
c.558A>C (p.Leu186=)
c.411A>C (p.Leu137=)
c.264A>C (p.Leu88=)
n.979A>C
n.839A>C
n.836A>C
4g.98416779A>GCA440300357RAP1GDS1c.798A>G (p.Leu266=)
c.525A>G (p.Leu175=)
c.801A>G (p.Leu267=)
c.654A>G (p.Leu218=)
c.651A>G (p.Leu217=)
c.226A>G
c.558A>G (p.Leu186=)
c.411A>G (p.Leu137=)
c.264A>G (p.Leu88=)
n.979A>G
n.839A>G
n.836A>G
dbSNP gnomAD v2 gnomAD v4
4g.98416779A>TCA440300358RAP1GDS1c.798A>T (p.Leu266=)
c.525A>T (p.Leu175=)
c.801A>T (p.Leu267=)
c.654A>T (p.Leu218=)
c.651A>T (p.Leu217=)
c.226A>T
c.558A>T (p.Leu186=)
c.411A>T (p.Leu137=)
c.264A>T (p.Leu88=)
n.979A>T
n.839A>T
n.836A>T
4g.98416780G>ACA357480378RAP1GDS1c.799G>A (p.Val267Ile)
c.526G>A (p.Val176Ile)
c.802G>A (p.Val268Ile)
c.655G>A (p.Val219Ile)
c.652G>A (p.Val218Ile)
c.227G>A
c.559G>A (p.Val187Ile)
c.412G>A (p.Val138Ile)
c.265G>A (p.Val89Ile)
n.980G>A
n.840G>A
n.837G>A
4g.98416780G>CCA357480374RAP1GDS1c.799G>C (p.Val267Leu)
c.526G>C (p.Val176Leu)
c.802G>C (p.Val268Leu)
c.655G>C (p.Val219Leu)
c.652G>C (p.Val218Leu)
c.227G>C
c.559G>C (p.Val187Leu)
c.412G>C (p.Val138Leu)
c.265G>C (p.Val89Leu)
n.980G>C
n.840G>C
n.837G>C
4g.98416780G>TCA357480373RAP1GDS1c.799G>T (p.Val267Leu)
c.526G>T (p.Val176Leu)
c.802G>T (p.Val268Leu)
c.655G>T (p.Val219Leu)
c.652G>T (p.Val218Leu)
c.227G>T
c.559G>T (p.Val187Leu)
c.412G>T (p.Val138Leu)
c.265G>T (p.Val89Leu)
n.980G>T
n.840G>T
n.837G>T
4g.98416781T>ACA357480384RAP1GDS1c.800T>A (p.Val267Glu)
c.527T>A (p.Val176Glu)
c.803T>A (p.Val268Glu)
c.656T>A (p.Val219Glu)
c.653T>A (p.Val218Glu)
c.228T>A
c.560T>A (p.Val187Glu)
c.413T>A (p.Val138Glu)
c.266T>A (p.Val89Glu)
n.981T>A
n.841T>A
n.838T>A
4g.98416781T>CCA357480389RAP1GDS1c.800T>C (p.Val267Ala)
c.527T>C (p.Val176Ala)
c.803T>C (p.Val268Ala)
c.656T>C (p.Val219Ala)
c.653T>C (p.Val218Ala)
c.228T>C
c.560T>C (p.Val187Ala)
c.413T>C (p.Val138Ala)
c.266T>C (p.Val89Ala)
n.981T>C
n.841T>C
n.838T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.98416781T>GCA357480387RAP1GDS1c.800T>G (p.Val267Gly)
c.527T>G (p.Val176Gly)
c.803T>G (p.Val268Gly)
c.656T>G (p.Val219Gly)
c.653T>G (p.Val218Gly)
c.228T>G
c.560T>G (p.Val187Gly)
c.413T>G (p.Val138Gly)
c.266T>G (p.Val89Gly)
n.981T>G
n.841T>G
n.838T>G
4g.98416781T=CA1479543587RAP1GDS1c.800T= (p.Val267=)
c.527T= (p.Val176=)
c.803T= (p.Val268=)
c.656T= (p.Val219=)
c.653T= (p.Val218=)
c.228T=
c.560T= (p.Val187=)
c.413T= (p.Val138=)
c.266T= (p.Val89=)
n.981T=
n.841T=
n.838T=
4g.98416782A=CA1479543588RAP1GDS1c.801A= (p.Val267=)
c.528A= (p.Val176=)
c.804A= (p.Val268=)
c.657A= (p.Val219=)
c.654A= (p.Val218=)
c.229A=
c.561A= (p.Val187=)
c.414A= (p.Val138=)
c.267A= (p.Val89=)
n.982A=
n.842A=
n.839A=
4g.98416782A>CCA440300360RAP1GDS1c.801A>C (p.Val267=)
c.528A>C (p.Val176=)
c.804A>C (p.Val268=)
c.657A>C (p.Val219=)
c.654A>C (p.Val218=)
c.229A>C
c.561A>C (p.Val187=)
c.414A>C (p.Val138=)
c.267A>C (p.Val89=)
n.982A>C
n.842A>C
n.839A>C
4g.98416782A>GCA101595116RAP1GDS1c.801A>G (p.Val267=)
c.528A>G (p.Val176=)
c.804A>G (p.Val268=)
c.657A>G (p.Val219=)
c.654A>G (p.Val218=)
c.229A>G
c.561A>G (p.Val187=)
c.414A>G (p.Val138=)
c.267A>G (p.Val89=)
n.982A>G
n.842A>G
n.839A>G
dbSNP gnomAD v3 gnomAD v4
4g.98416782A>TCA440300361RAP1GDS1c.801A>T (p.Val267=)
c.528A>T (p.Val176=)
c.804A>T (p.Val268=)
c.657A>T (p.Val219=)
c.654A>T (p.Val218=)
c.229A>T
c.561A>T (p.Val187=)
c.414A>T (p.Val138=)
c.267A>T (p.Val89=)
n.982A>T
n.842A>T
n.839A>T
4g.98416783G>ACA357480393RAP1GDS1c.802G>A (p.Glu268Lys)
c.529G>A (p.Glu177Lys)
c.805G>A (p.Glu269Lys)
c.658G>A (p.Glu220Lys)
c.655G>A (p.Glu219Lys)
c.230G>A
c.562G>A (p.Glu188Lys)
c.415G>A (p.Glu139Lys)
c.268G>A (p.Glu90Lys)
n.983G>A
n.843G>A
n.840G>A
dbSNP gnomAD v2 gnomAD v4
4g.98416783G>CCA357480395RAP1GDS1c.802G>C (p.Glu268Gln)
c.529G>C (p.Glu177Gln)
c.805G>C (p.Glu269Gln)
c.658G>C (p.Glu220Gln)
c.655G>C (p.Glu219Gln)
c.230G>C
c.562G>C (p.Glu188Gln)
c.415G>C (p.Glu139Gln)
c.268G>C (p.Glu90Gln)
n.983G>C
n.843G>C
n.840G>C
gnomAD v4
4g.98416783G=CA1479543589RAP1GDS1c.802G= (p.Glu268=)
c.529G= (p.Glu177=)
c.805G= (p.Glu269=)
c.658G= (p.Glu220=)
c.655G= (p.Glu219=)
c.230G=
c.562G= (p.Glu188=)
c.415G= (p.Glu139=)
c.268G= (p.Glu90=)
n.983G=
n.843G=
n.840G=
4g.98416783G>TCA357480396RAP1GDS1c.802G>T (p.Glu268Ter)
c.529G>T (p.Glu177Ter)
c.805G>T (p.Glu269Ter)
c.658G>T (p.Glu220Ter)
c.655G>T (p.Glu219Ter)
c.230G>T
c.562G>T (p.Glu188Ter)
c.415G>T (p.Glu139Ter)
c.268G>T (p.Glu90Ter)
n.983G>T
n.843G>T
n.840G>T
4g.98416784A>CCA357480398RAP1GDS1c.803A>C (p.Glu268Ala)
c.530A>C (p.Glu177Ala)
c.806A>C (p.Glu269Ala)
c.659A>C (p.Glu220Ala)
c.656A>C (p.Glu219Ala)
c.231A>C
c.563A>C (p.Glu188Ala)
c.416A>C (p.Glu139Ala)
c.269A>C (p.Glu90Ala)
n.984A>C
n.844A>C
n.841A>C
4g.98416784A>GCA357480400RAP1GDS1c.803A>G (p.Glu268Gly)
c.530A>G (p.Glu177Gly)
c.806A>G (p.Glu269Gly)
c.659A>G (p.Glu220Gly)
c.656A>G (p.Glu219Gly)
c.231A>G
c.563A>G (p.Glu188Gly)
c.416A>G (p.Glu139Gly)
c.269A>G (p.Glu90Gly)
n.984A>G
n.844A>G
n.841A>G
4g.98416784A>TCA357480402RAP1GDS1c.803A>T (p.Glu268Val)
c.530A>T (p.Glu177Val)
c.806A>T (p.Glu269Val)
c.659A>T (p.Glu220Val)
c.656A>T (p.Glu219Val)
c.231A>T
c.563A>T (p.Glu188Val)
c.416A>T (p.Glu139Val)
c.269A>T (p.Glu90Val)
n.984A>T
n.844A>T
n.841A>T
4g.98416785G>ACA440300362RAP1GDS1c.804G>A (p.Glu268=)
c.531G>A (p.Glu177=)
c.807G>A (p.Glu269=)
c.660G>A (p.Glu220=)
c.657G>A (p.Glu219=)
c.232G>A
c.564G>A (p.Glu188=)
c.417G>A (p.Glu139=)
c.270G>A (p.Glu90=)
n.985G>A
n.845G>A
n.842G>A
gnomAD v4
4g.98416785G>CCA357480405RAP1GDS1c.804G>C (p.Glu268Asp)
c.531G>C (p.Glu177Asp)
c.807G>C (p.Glu269Asp)
c.660G>C (p.Glu220Asp)
c.657G>C (p.Glu219Asp)
c.232G>C
c.564G>C (p.Glu188Asp)
c.417G>C (p.Glu139Asp)
c.270G>C (p.Glu90Asp)
n.985G>C
n.845G>C
n.842G>C
4g.98416785G>TCA357480406RAP1GDS1c.804G>T (p.Glu268Asp)
c.531G>T (p.Glu177Asp)
c.807G>T (p.Glu269Asp)
c.660G>T (p.Glu220Asp)
c.657G>T (p.Glu219Asp)
c.232G>T
c.564G>T (p.Glu188Asp)
c.417G>T (p.Glu139Asp)
c.270G>T (p.Glu90Asp)
n.985G>T
n.845G>T
n.842G>T
4g.98416786T>ACA3017195RAP1GDS1c.805T>A (p.Cys269Ser)
c.532T>A (p.Cys178Ser)
c.808T>A (p.Cys270Ser)
c.661T>A (p.Cys221Ser)
c.658T>A (p.Cys220Ser)
c.233T>A
c.565T>A (p.Cys189Ser)
c.418T>A (p.Cys140Ser)
c.271T>A (p.Cys91Ser)
n.986T>A
n.846T>A
n.843T>A
dbSNP ExAC gnomAD v2 gnomAD v4
4g.98416786T>CCA357480409RAP1GDS1c.805T>C (p.Cys269Arg)
c.532T>C (p.Cys178Arg)
c.808T>C (p.Cys270Arg)
c.661T>C (p.Cys221Arg)
c.658T>C (p.Cys220Arg)
c.233T>C
c.565T>C (p.Cys189Arg)
c.418T>C (p.Cys140Arg)
c.271T>C (p.Cys91Arg)
n.986T>C
n.846T>C
n.843T>C
4g.98416786T>GCA357480411RAP1GDS1c.805T>G (p.Cys269Gly)
c.532T>G (p.Cys178Gly)
c.808T>G (p.Cys270Gly)
c.661T>G (p.Cys221Gly)
c.658T>G (p.Cys220Gly)
c.233T>G
c.565T>G (p.Cys189Gly)
c.418T>G (p.Cys140Gly)
c.271T>G (p.Cys91Gly)
n.986T>G
n.846T>G
n.843T>G
4g.98416786T=CA1479543590RAP1GDS1c.805T= (p.Cys269=)
c.532T= (p.Cys178=)
c.808T= (p.Cys270=)
c.661T= (p.Cys221=)
c.658T= (p.Cys220=)
c.233T=
c.565T= (p.Cys189=)
c.418T= (p.Cys140=)
c.271T= (p.Cys91=)
n.986T=
n.846T=
n.843T=
4g.98416787G>ACA357480413RAP1GDS1c.806G>A (p.Cys269Tyr)
c.533G>A (p.Cys178Tyr)
c.809G>A (p.Cys270Tyr)
c.662G>A (p.Cys221Tyr)
c.659G>A (p.Cys220Tyr)
c.234G>A
c.566G>A (p.Cys189Tyr)
c.419G>A (p.Cys140Tyr)
c.272G>A (p.Cys91Tyr)
n.987G>A
n.847G>A
n.844G>A
4g.98416787G>CCA357480416RAP1GDS1c.806G>C (p.Cys269Ser)
c.533G>C (p.Cys178Ser)
c.809G>C (p.Cys270Ser)
c.662G>C (p.Cys221Ser)
c.659G>C (p.Cys220Ser)
c.234G>C
c.566G>C (p.Cys189Ser)
c.419G>C (p.Cys140Ser)
c.272G>C (p.Cys91Ser)
n.987G>C
n.847G>C
n.844G>C
4g.98416787G>TCA357480415RAP1GDS1c.806G>T (p.Cys269Phe)
c.533G>T (p.Cys178Phe)
c.809G>T (p.Cys270Phe)
c.662G>T (p.Cys221Phe)
c.659G>T (p.Cys220Phe)
c.234G>T
c.566G>T (p.Cys189Phe)
c.419G>T (p.Cys140Phe)
c.272G>T (p.Cys91Phe)
n.987G>T
n.847G>T
n.844G>T
4g.98416788T>ACA357480418RAP1GDS1c.807T>A (p.Cys269Ter)
c.534T>A (p.Cys178Ter)
c.810T>A (p.Cys270Ter)
c.663T>A (p.Cys221Ter)
c.660T>A (p.Cys220Ter)
c.235T>A
c.567T>A (p.Cys189Ter)
c.420T>A (p.Cys140Ter)
c.273T>A (p.Cys91Ter)
n.988T>A
n.848T>A
n.845T>A
4g.98416788T>CCA440300364RAP1GDS1c.807T>C (p.Cys269=)
c.534T>C (p.Cys178=)
c.810T>C (p.Cys270=)
c.663T>C (p.Cys221=)
c.660T>C (p.Cys220=)
c.235T>C
c.567T>C (p.Cys189=)
c.420T>C (p.Cys140=)
c.273T>C (p.Cys91=)
n.988T>C
n.848T>C
n.845T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.98416788T>GCA357480420RAP1GDS1c.807T>G (p.Cys269Trp)
c.534T>G (p.Cys178Trp)
c.810T>G (p.Cys270Trp)
c.663T>G (p.Cys221Trp)
c.660T>G (p.Cys220Trp)
c.235T>G
c.567T>G (p.Cys189Trp)
c.420T>G (p.Cys140Trp)
c.273T>G (p.Cys91Trp)
n.988T>G
n.848T>G
n.845T>G
4g.98416788T=CA1479543591RAP1GDS1c.807T= (p.Cys269=)
c.534T= (p.Cys178=)
c.810T= (p.Cys270=)
c.663T= (p.Cys221=)
c.660T= (p.Cys220=)
c.235T=
c.567T= (p.Cys189=)
c.420T= (p.Cys140=)
c.273T= (p.Cys91=)
n.988T=
n.848T=
n.845T=
4g.98416789C>ACA357480422RAP1GDS1c.808C>A (p.Leu270Ile)
c.535C>A (p.Leu179Ile)
c.811C>A (p.Leu271Ile)
c.664C>A (p.Leu222Ile)
c.661C>A (p.Leu221Ile)
c.236C>A
c.568C>A (p.Leu190Ile)
c.421C>A (p.Leu141Ile)
c.274C>A (p.Leu92Ile)
n.989C>A
n.849C>A
n.846C>A
4g.98416789C=CA1479543592RAP1GDS1c.808C= (p.Leu270=)
c.535C= (p.Leu179=)
c.811C= (p.Leu271=)
c.664C= (p.Leu222=)
c.661C= (p.Leu221=)
c.236C=
c.568C= (p.Leu190=)
c.421C= (p.Leu141=)
c.274C= (p.Leu92=)
n.989C=
n.849C=
n.846C=
4g.98416789C>GCA357480424RAP1GDS1c.808C>G (p.Leu270Val)
c.535C>G (p.Leu179Val)
c.811C>G (p.Leu271Val)
c.664C>G (p.Leu222Val)
c.661C>G (p.Leu221Val)
c.236C>G
c.568C>G (p.Leu190Val)
c.421C>G (p.Leu141Val)
c.274C>G (p.Leu92Val)
n.989C>G
n.849C>G
n.846C>G
dbSNP gnomAD v3 gnomAD v4
4g.98416789C>TCA440300365RAP1GDS1c.808C>T (p.Leu270=)
c.535C>T (p.Leu179=)
c.811C>T (p.Leu271=)
c.664C>T (p.Leu222=)
c.661C>T (p.Leu221=)
c.236C>T
c.568C>T (p.Leu190=)
c.421C>T (p.Leu141=)
c.274C>T (p.Leu92=)
n.989C>T
n.849C>T
n.846C>T
4g.98416792_98416794delCA2671483098RAP1GDS1c.811_813del (p.Leu271del)
c.538_540del (p.Leu180del)
c.814_816del (p.Leu272del)
c.667_669del (p.Leu223del)
c.664_666del (p.Leu222del)
c.239_241del
c.571_573del (p.Leu191del)
c.424_426del (p.Leu142del)
c.277_279del (p.Leu93del)
n.992_994del
n.852_854del
n.849_851del
gnomAD v4
4g.98416790T>ACA357480426RAP1GDS1c.809T>A (p.Leu270Gln)
c.536T>A (p.Leu179Gln)
c.812T>A (p.Leu271Gln)
c.665T>A (p.Leu222Gln)
c.662T>A (p.Leu221Gln)
c.237T>A
c.569T>A (p.Leu190Gln)
c.422T>A (p.Leu141Gln)
c.275T>A (p.Leu92Gln)
n.990T>A
n.850T>A
n.847T>A
4g.98416790T>CCA357480428RAP1GDS1c.809T>C (p.Leu270Pro)
c.536T>C (p.Leu179Pro)
c.812T>C (p.Leu271Pro)
c.665T>C (p.Leu222Pro)
c.662T>C (p.Leu221Pro)
c.237T>C
c.569T>C (p.Leu190Pro)
c.422T>C (p.Leu141Pro)
c.275T>C (p.Leu92Pro)
n.990T>C
n.850T>C
n.847T>C
4g.98416790T>GCA357480436RAP1GDS1c.809T>G (p.Leu270Arg)
c.536T>G (p.Leu179Arg)
c.812T>G (p.Leu271Arg)
c.665T>G (p.Leu222Arg)
c.662T>G (p.Leu221Arg)
c.237T>G
c.569T>G (p.Leu190Arg)
c.422T>G (p.Leu141Arg)
c.275T>G (p.Leu92Arg)
n.990T>G
n.850T>G
n.847T>G
4g.98416791A=CA1479543593RAP1GDS1c.810A= (p.Leu270=)
c.537A= (p.Leu179=)
c.813A= (p.Leu271=)
c.666A= (p.Leu222=)
c.663A= (p.Leu221=)
c.238A=
c.570A= (p.Leu190=)
c.423A= (p.Leu141=)
c.276A= (p.Leu92=)
n.991A=
n.851A=
n.848A=
4g.98416791A>CCA440300366RAP1GDS1c.810A>C (p.Leu270=)
c.537A>C (p.Leu179=)
c.813A>C (p.Leu271=)
c.666A>C (p.Leu222=)
c.663A>C (p.Leu221=)
c.238A>C
c.570A>C (p.Leu190=)
c.423A>C (p.Leu141=)
c.276A>C (p.Leu92=)
n.991A>C
n.851A>C
n.848A>C
4g.98416791A>GCA101595122RAP1GDS1c.810A>G (p.Leu270=)
c.537A>G (p.Leu179=)
c.813A>G (p.Leu271=)
c.666A>G (p.Leu222=)
c.663A>G (p.Leu221=)
c.238A>G
c.570A>G (p.Leu190=)
c.423A>G (p.Leu141=)
c.276A>G (p.Leu92=)
n.991A>G
n.851A>G
n.848A>G
dbSNP
4g.98416791A>TCA440300368RAP1GDS1c.810A>T (p.Leu270=)
c.537A>T (p.Leu179=)
c.813A>T (p.Leu271=)
c.666A>T (p.Leu222=)
c.663A>T (p.Leu221=)
c.238A>T
c.570A>T (p.Leu190=)
c.423A>T (p.Leu141=)
c.276A>T (p.Leu92=)
n.991A>T
n.851A>T
n.848A>T
4g.98416792C>ACA357480441RAP1GDS1c.811C>A (p.Leu271Ile)
c.538C>A (p.Leu180Ile)
c.814C>A (p.Leu272Ile)
c.667C>A (p.Leu223Ile)
c.664C>A (p.Leu222Ile)
c.239C>A
c.571C>A (p.Leu191Ile)
c.424C>A (p.Leu142Ile)
c.277C>A (p.Leu93Ile)
n.992C>A
n.852C>A
n.849C>A
dbSNP gnomAD v2 gnomAD v4
4g.98416792C=CA1479543594RAP1GDS1c.811C= (p.Leu271=)
c.538C= (p.Leu180=)
c.814C= (p.Leu272=)
c.667C= (p.Leu223=)
c.664C= (p.Leu222=)
c.239C=
c.571C= (p.Leu191=)
c.424C= (p.Leu142=)
c.277C= (p.Leu93=)
n.992C=
n.852C=
n.849C=
4g.98416792C>GCA357480449RAP1GDS1c.811C>G (p.Leu271Val)
c.538C>G (p.Leu180Val)
c.814C>G (p.Leu272Val)
c.667C>G (p.Leu223Val)
c.664C>G (p.Leu222Val)
c.239C>G
c.571C>G (p.Leu191Val)
c.424C>G (p.Leu142Val)
c.277C>G (p.Leu93Val)
n.992C>G
n.852C>G
n.849C>G
4g.98416792C>TCA440300369RAP1GDS1c.811C>T (p.Leu271=)
c.538C>T (p.Leu180=)
c.814C>T (p.Leu272=)
c.667C>T (p.Leu223=)
c.664C>T (p.Leu222=)
c.239C>T
c.571C>T (p.Leu191=)
c.424C>T (p.Leu142=)
c.277C>T (p.Leu93=)
n.992C>T
n.852C>T
n.849C>T
4g.98416793T>ACA357480453RAP1GDS1c.812T>A (p.Leu271Gln)
c.539T>A (p.Leu180Gln)
c.815T>A (p.Leu272Gln)
c.668T>A (p.Leu223Gln)
c.665T>A (p.Leu222Gln)
c.240T>A
c.572T>A (p.Leu191Gln)
c.425T>A (p.Leu142Gln)
c.278T>A (p.Leu93Gln)
n.993T>A
n.853T>A
n.850T>A
4g.98416793T>CCA357480460RAP1GDS1c.812T>C (p.Leu271Pro)
c.539T>C (p.Leu180Pro)
c.815T>C (p.Leu272Pro)
c.668T>C (p.Leu223Pro)
c.665T>C (p.Leu222Pro)
c.240T>C
c.572T>C (p.Leu191Pro)
c.425T>C (p.Leu142Pro)
c.278T>C (p.Leu93Pro)
n.993T>C
n.853T>C
n.850T>C
4g.98416793T>GCA357480450RAP1GDS1c.812T>G (p.Leu271Arg)
c.539T>G (p.Leu180Arg)
c.815T>G (p.Leu272Arg)
c.668T>G (p.Leu223Arg)
c.665T>G (p.Leu222Arg)
c.240T>G
c.572T>G (p.Leu191Arg)
c.425T>G (p.Leu142Arg)
c.278T>G (p.Leu93Arg)
n.993T>G
n.853T>G
n.850T>G
4g.98416794A>CCA440300370RAP1GDS1c.813A>C (p.Leu271=)
c.540A>C (p.Leu180=)
c.816A>C (p.Leu272=)
c.669A>C (p.Leu223=)
c.666A>C (p.Leu222=)
c.241A>C
c.573A>C (p.Leu191=)
c.426A>C (p.Leu142=)
c.279A>C (p.Leu93=)
n.994A>C
n.854A>C
n.851A>C
gnomAD v4
4g.98416794A>GCA440300372RAP1GDS1c.813A>G (p.Leu271=)
c.540A>G (p.Leu180=)
c.816A>G (p.Leu272=)
c.669A>G (p.Leu223=)
c.666A>G (p.Leu222=)
c.241A>G
c.573A>G (p.Leu191=)
c.426A>G (p.Leu142=)
c.279A>G (p.Leu93=)
n.994A>G
n.854A>G
n.851A>G
gnomAD v4
4g.98416794A>TCA440300371RAP1GDS1c.813A>T (p.Leu271=)
c.540A>T (p.Leu180=)
c.816A>T (p.Leu272=)
c.669A>T (p.Leu223=)
c.666A>T (p.Leu222=)
c.241A>T
c.573A>T (p.Leu191=)
c.426A>T (p.Leu142=)
c.279A>T (p.Leu93=)
n.994A>T
n.854A>T
n.851A>T
4g.98416795G>ACA357480462RAP1GDS1c.814G>A (p.Glu272Lys)
c.541G>A (p.Glu181Lys)
c.817G>A (p.Glu273Lys)
c.670G>A (p.Glu224Lys)
c.667G>A (p.Glu223Lys)
c.242G>A
c.574G>A (p.Glu192Lys)
c.427G>A (p.Glu143Lys)
c.280G>A (p.Glu94Lys)
n.995G>A
n.855G>A
n.852G>A
dbSNP gnomAD v4
4g.98416795G>CCA357480468RAP1GDS1c.814G>C (p.Glu272Gln)
c.541G>C (p.Glu181Gln)
c.817G>C (p.Glu273Gln)
c.670G>C (p.Glu224Gln)
c.667G>C (p.Glu223Gln)
c.242G>C
c.574G>C (p.Glu192Gln)
c.427G>C (p.Glu143Gln)
c.280G>C (p.Glu94Gln)
n.995G>C
n.855G>C
n.852G>C
4g.98416795G=CA1479543595RAP1GDS1c.814G= (p.Glu272=)
c.541G= (p.Glu181=)
c.817G= (p.Glu273=)
c.670G= (p.Glu224=)
c.667G= (p.Glu223=)
c.242G=
c.574G= (p.Glu192=)
c.427G= (p.Glu143=)
c.280G= (p.Glu94=)
n.995G=
n.855G=
n.852G=
4g.98416795G>TCA357480472RAP1GDS1c.814G>T (p.Glu272Ter)
c.541G>T (p.Glu181Ter)
c.817G>T (p.Glu273Ter)
c.670G>T (p.Glu224Ter)
c.667G>T (p.Glu223Ter)
c.242G>T
c.574G>T (p.Glu192Ter)
c.427G>T (p.Glu143Ter)
c.280G>T (p.Glu94Ter)
n.995G>T
n.855G>T
n.852G>T
4g.98416796A>CCA357480475RAP1GDS1c.815A>C (p.Glu272Ala)
c.542A>C (p.Glu181Ala)
c.818A>C (p.Glu273Ala)
c.671A>C (p.Glu224Ala)
c.668A>C (p.Glu223Ala)
c.243A>C
c.575A>C (p.Glu192Ala)
c.428A>C (p.Glu143Ala)
c.281A>C (p.Glu94Ala)
n.996A>C
n.856A>C
n.853A>C
4g.98416796A>GCA357480476RAP1GDS1c.815A>G (p.Glu272Gly)
c.542A>G (p.Glu181Gly)
c.818A>G (p.Glu273Gly)
c.671A>G (p.Glu224Gly)
c.668A>G (p.Glu223Gly)
c.243A>G
c.575A>G (p.Glu192Gly)
c.428A>G (p.Glu143Gly)
c.281A>G (p.Glu94Gly)
n.996A>G
n.856A>G
n.853A>G
gnomAD v4
4g.98416796A>TCA357480479RAP1GDS1c.815A>T (p.Glu272Val)
c.542A>T (p.Glu181Val)
c.818A>T (p.Glu273Val)
c.671A>T (p.Glu224Val)
c.668A>T (p.Glu223Val)
c.243A>T
c.575A>T (p.Glu192Val)
c.428A>T (p.Glu143Val)
c.281A>T (p.Glu94Val)
n.996A>T
n.856A>T
n.853A>T
4g.98416797G>ACA440300373RAP1GDS1c.816G>A (p.Glu272=)
c.543G>A (p.Glu181=)
c.819G>A (p.Glu273=)
c.672G>A (p.Glu224=)
c.669G>A (p.Glu223=)
c.244G>A
c.576G>A (p.Glu192=)
c.429G>A (p.Glu143=)
c.282G>A (p.Glu94=)
n.997G>A
n.857G>A
n.854G>A
4g.98416797G>CCA357480481RAP1GDS1c.816G>C (p.Glu272Asp)
c.543G>C (p.Glu181Asp)
c.819G>C (p.Glu273Asp)
c.672G>C (p.Glu224Asp)
c.669G>C (p.Glu223Asp)
c.244G>C
c.576G>C (p.Glu192Asp)
c.429G>C (p.Glu143Asp)
c.282G>C (p.Glu94Asp)
n.997G>C
n.857G>C
n.854G>C
4g.98416797G>TCA357480483RAP1GDS1c.816G>T (p.Glu272Asp)
c.543G>T (p.Glu181Asp)
c.819G>T (p.Glu273Asp)
c.672G>T (p.Glu224Asp)
c.669G>T (p.Glu223Asp)
c.244G>T
c.576G>T (p.Glu192Asp)
c.429G>T (p.Glu143Asp)
c.282G>T (p.Glu94Asp)
n.997G>T
n.857G>T
n.854G>T
4g.98416798A>CCA357480485RAP1GDS1c.817A>C (p.Ile273Leu)
c.544A>C (p.Ile182Leu)
c.820A>C (p.Ile274Leu)
c.673A>C (p.Ile225Leu)
c.670A>C (p.Ile224Leu)
c.245A>C
c.577A>C (p.Ile193Leu)
c.430A>C (p.Ile144Leu)
c.283A>C (p.Ile95Leu)
n.998A>C
n.858A>C
n.855A>C
4g.98416798A>GCA357480486RAP1GDS1c.817A>G (p.Ile273Val)
c.544A>G (p.Ile182Val)
c.820A>G (p.Ile274Val)
c.673A>G (p.Ile225Val)
c.670A>G (p.Ile224Val)
c.245A>G
c.577A>G (p.Ile193Val)
c.430A>G (p.Ile144Val)
c.283A>G (p.Ile95Val)
n.998A>G
n.858A>G
n.855A>G
4g.98416798A>TCA357480487RAP1GDS1c.817A>T (p.Ile273Phe)
c.544A>T (p.Ile182Phe)
c.820A>T (p.Ile274Phe)
c.673A>T (p.Ile225Phe)
c.670A>T (p.Ile224Phe)
c.245A>T
c.577A>T (p.Ile193Phe)
c.430A>T (p.Ile144Phe)
c.283A>T (p.Ile95Phe)
n.998A>T
n.858A>T
n.855A>T
4g.98416799T>ACA357480489RAP1GDS1c.818T>A (p.Ile273Asn)
c.545T>A (p.Ile182Asn)
c.821T>A (p.Ile274Asn)
c.674T>A (p.Ile225Asn)
c.671T>A (p.Ile224Asn)
c.246T>A
c.578T>A (p.Ile193Asn)
c.431T>A (p.Ile144Asn)
c.284T>A (p.Ile95Asn)
n.999T>A
n.859T>A
n.856T>A
4g.98416799T>CCA357480491RAP1GDS1c.818T>C (p.Ile273Thr)
c.545T>C (p.Ile182Thr)
c.821T>C (p.Ile274Thr)
c.674T>C (p.Ile225Thr)
c.671T>C (p.Ile224Thr)
c.246T>C
c.578T>C (p.Ile193Thr)
c.431T>C (p.Ile144Thr)
c.284T>C (p.Ile95Thr)
n.999T>C
n.859T>C
n.856T>C
gnomAD v4
4g.98416799T>GCA357480492RAP1GDS1c.818T>G (p.Ile273Ser)
c.545T>G (p.Ile182Ser)
c.821T>G (p.Ile274Ser)
c.674T>G (p.Ile225Ser)
c.671T>G (p.Ile224Ser)
c.246T>G
c.578T>G (p.Ile193Ser)
c.431T>G (p.Ile144Ser)
c.284T>G (p.Ile95Ser)
n.999T>G
n.859T>G
n.856T>G
4g.98416800T>ACA440300375RAP1GDS1c.819T>A (p.Ile273=)
c.546T>A (p.Ile182=)
c.822T>A (p.Ile274=)
c.675T>A (p.Ile225=)
c.672T>A (p.Ile224=)
c.247T>A
c.579T>A (p.Ile193=)
c.432T>A (p.Ile144=)
c.285T>A (p.Ile95=)
n.1000T>A
n.860T>A
n.857T>A
4g.98416800T>CCA440300377RAP1GDS1c.819T>C (p.Ile273=)
c.546T>C (p.Ile182=)
c.822T>C (p.Ile274=)
c.675T>C (p.Ile225=)
c.672T>C (p.Ile224=)
c.247T>C
c.579T>C (p.Ile193=)
c.432T>C (p.Ile144=)
c.285T>C (p.Ile95=)
n.1000T>C
n.860T>C
n.857T>C
gnomAD v4
4g.98416800T>GCA357480493RAP1GDS1c.819T>G (p.Ile273Met)
c.546T>G (p.Ile182Met)
c.822T>G (p.Ile274Met)
c.675T>G (p.Ile225Met)
c.672T>G (p.Ile224Met)
c.247T>G
c.579T>G (p.Ile193Met)
c.432T>G (p.Ile144Met)
c.285T>G (p.Ile95Met)
n.1000T>G
n.860T>G
n.857T>G
4g.98416801G>ACA357480495RAP1GDS1c.820G>A (p.Val274Ile)
c.547G>A (p.Val183Ile)
c.823G>A (p.Val275Ile)
c.676G>A (p.Val226Ile)
c.673G>A (p.Val225Ile)
c.248G>A
c.580G>A (p.Val194Ile)
c.433G>A (p.Val145Ile)
c.286G>A (p.Val96Ile)
n.1001G>A
n.861G>A
n.858G>A
4g.98416801G>CCA357480497RAP1GDS1c.820G>C (p.Val274Leu)
c.547G>C (p.Val183Leu)
c.823G>C (p.Val275Leu)
c.676G>C (p.Val226Leu)
c.673G>C (p.Val225Leu)
c.248G>C
c.580G>C (p.Val194Leu)
c.433G>C (p.Val145Leu)
c.286G>C (p.Val96Leu)
n.1001G>C
n.861G>C
n.858G>C
4g.98416801G>TCA357480498RAP1GDS1c.820G>T (p.Val274Phe)
c.547G>T (p.Val183Phe)
c.823G>T (p.Val275Phe)
c.676G>T (p.Val226Phe)
c.673G>T (p.Val225Phe)
c.248G>T
c.580G>T (p.Val194Phe)
c.433G>T (p.Val145Phe)
c.286G>T (p.Val96Phe)
n.1001G>T
n.861G>T
n.858G>T
4g.98416802T>ACA357480500RAP1GDS1c.821T>A (p.Val274Asp)
c.548T>A (p.Val183Asp)
c.824T>A (p.Val275Asp)
c.677T>A (p.Val226Asp)
c.674T>A (p.Val225Asp)
c.249T>A
c.581T>A (p.Val194Asp)
c.434T>A (p.Val145Asp)
c.287T>A (p.Val96Asp)
n.1002T>A
n.862T>A
n.859T>A
4g.98416802T>CCA357480501RAP1GDS1c.821T>C (p.Val274Ala)
c.548T>C (p.Val183Ala)
c.824T>C (p.Val275Ala)
c.677T>C (p.Val226Ala)
c.674T>C (p.Val225Ala)
c.249T>C
c.581T>C (p.Val194Ala)
c.434T>C (p.Val145Ala)
c.287T>C (p.Val96Ala)
n.1002T>C
n.862T>C
n.859T>C
4g.98416802T>GCA357480502RAP1GDS1c.821T>G (p.Val274Gly)
c.548T>G (p.Val183Gly)
c.824T>G (p.Val275Gly)
c.677T>G (p.Val226Gly)
c.674T>G (p.Val225Gly)
c.249T>G
c.581T>G (p.Val194Gly)
c.434T>G (p.Val145Gly)
c.287T>G (p.Val96Gly)
n.1002T>G
n.862T>G
n.859T>G
4g.98416803T>ACA440300380RAP1GDS1c.822T>A (p.Val274=)
c.549T>A (p.Val183=)
c.825T>A (p.Val275=)
c.678T>A (p.Val226=)
c.675T>A (p.Val225=)
c.250T>A
c.582T>A (p.Val194=)
c.435T>A (p.Val145=)
c.288T>A (p.Val96=)
n.1003T>A
n.863T>A
n.860T>A
4g.98416803T>CCA440300378RAP1GDS1c.822T>C (p.Val274=)
c.549T>C (p.Val183=)
c.825T>C (p.Val275=)
c.678T>C (p.Val226=)
c.675T>C (p.Val225=)
c.250T>C
c.582T>C (p.Val194=)
c.435T>C (p.Val145=)
c.288T>C (p.Val96=)
n.1003T>C
n.863T>C
n.860T>C
4g.98416803T>GCA440300379RAP1GDS1c.822T>G (p.Val274=)
c.549T>G (p.Val183=)
c.825T>G (p.Val275=)
c.678T>G (p.Val226=)
c.675T>G (p.Val225=)
c.250T>G
c.582T>G (p.Val194=)
c.435T>G (p.Val145=)
c.288T>G (p.Val96=)
n.1003T>G
n.863T>G
n.860T>G
4g.98416804C>ACA357480503RAP1GDS1c.823C>A (p.Gln275Lys)
c.550C>A (p.Gln184Lys)
c.826C>A (p.Gln276Lys)
c.679C>A (p.Gln227Lys)
c.676C>A (p.Gln226Lys)
c.251C>A
c.583C>A (p.Gln195Lys)
c.436C>A (p.Gln146Lys)
c.289C>A (p.Gln97Lys)
n.1004C>A
n.864C>A
n.861C>A
4g.98416804C=CA1479543596RAP1GDS1c.823C= (p.Gln275=)
c.550C= (p.Gln184=)
c.826C= (p.Gln276=)
c.679C= (p.Gln227=)
c.676C= (p.Gln226=)
c.251C=
c.583C= (p.Gln195=)
c.436C= (p.Gln146=)
c.289C= (p.Gln97=)
n.1004C=
n.864C=
n.861C=
4g.98416804C>GCA357480505RAP1GDS1c.823C>G (p.Gln275Glu)
c.550C>G (p.Gln184Glu)
c.826C>G (p.Gln276Glu)
c.679C>G (p.Gln227Glu)
c.676C>G (p.Gln226Glu)
c.251C>G
c.583C>G (p.Gln195Glu)
c.436C>G (p.Gln146Glu)
c.289C>G (p.Gln97Glu)
n.1004C>G
n.864C>G
n.861C>G
4g.98416804C>TCA357480507RAP1GDS1c.823C>T (p.Gln275Ter)
c.550C>T (p.Gln184Ter)
c.826C>T (p.Gln276Ter)
c.679C>T (p.Gln227Ter)
c.676C>T (p.Gln226Ter)
c.251C>T
c.583C>T (p.Gln195Ter)
c.436C>T (p.Gln146Ter)
c.289C>T (p.Gln97Ter)
n.1004C>T
n.864C>T
n.861C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.98416805A=CA1479543597RAP1GDS1c.824A= (p.Gln275=)
c.551A= (p.Gln184=)
c.827A= (p.Gln276=)
c.680A= (p.Gln227=)
c.677A= (p.Gln226=)
c.252A=
c.584A= (p.Gln195=)
c.437A= (p.Gln146=)
c.290A= (p.Gln97=)
n.1005A=
n.865A=
n.862A=
4g.98416805A>CCA357480509RAP1GDS1c.824A>C (p.Gln275Pro)
c.551A>C (p.Gln184Pro)
c.827A>C (p.Gln276Pro)
c.680A>C (p.Gln227Pro)
c.677A>C (p.Gln226Pro)
c.252A>C
c.584A>C (p.Gln195Pro)
c.437A>C (p.Gln146Pro)
c.290A>C (p.Gln97Pro)
n.1005A>C
n.865A>C
n.862A>C
4g.98416805A>GCA357480510RAP1GDS1c.824A>G (p.Gln275Arg)
c.551A>G (p.Gln184Arg)
c.827A>G (p.Gln276Arg)
c.680A>G (p.Gln227Arg)
c.677A>G (p.Gln226Arg)
c.252A>G
c.584A>G (p.Gln195Arg)
c.437A>G (p.Gln146Arg)
c.290A>G (p.Gln97Arg)
n.1005A>G
n.865A>G
n.862A>G
gnomAD v4
4g.98416805A>TCA3017196RAP1GDS1c.824A>T (p.Gln275Leu)
c.551A>T (p.Gln184Leu)
c.827A>T (p.Gln276Leu)
c.680A>T (p.Gln227Leu)
c.677A>T (p.Gln226Leu)
c.252A>T
c.584A>T (p.Gln195Leu)
c.437A>T (p.Gln146Leu)
c.290A>T (p.Gln97Leu)
n.1005A>T
n.865A>T
n.862A>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.98416806G>ACA440300381RAP1GDS1c.825G>A (p.Gln275=)
c.552G>A (p.Gln184=)
c.828G>A (p.Gln276=)
c.681G>A (p.Gln227=)
c.678G>A (p.Gln226=)
c.253G>A
c.585G>A (p.Gln195=)
c.438G>A (p.Gln146=)
c.291G>A (p.Gln97=)
n.1006G>A
n.866G>A
n.863G>A
4g.98416806G>CCA357480511RAP1GDS1c.825G>C (p.Gln275His)
c.552G>C (p.Gln184His)
c.828G>C (p.Gln276His)
c.681G>C (p.Gln227His)
c.678G>C (p.Gln226His)
c.253G>C
c.585G>C (p.Gln195His)
c.438G>C (p.Gln146His)
c.291G>C (p.Gln97His)
n.1006G>C
n.866G>C
n.863G>C
4g.98416806G>TCA357480513RAP1GDS1c.825G>T (p.Gln275His)
c.552G>T (p.Gln184His)
c.828G>T (p.Gln276His)
c.681G>T (p.Gln227His)
c.678G>T (p.Gln226His)
c.253G>T
c.585G>T (p.Gln195His)
c.438G>T (p.Gln146His)
c.291G>T (p.Gln97His)
n.1006G>T
n.866G>T
n.863G>T
4g.98416807C>ACA357480517RAP1GDS1c.826C>A (p.Gln276Lys)
c.553C>A (p.Gln185Lys)
c.829C>A (p.Gln277Lys)
c.682C>A (p.Gln228Lys)
c.679C>A (p.Gln227Lys)
c.254C>A
c.586C>A (p.Gln196Lys)
c.439C>A (p.Gln147Lys)
c.292C>A (p.Gln98Lys)
n.1007C>A
n.867C>A
n.864C>A
4g.98416807C>GCA357480519RAP1GDS1c.826C>G (p.Gln276Glu)
c.553C>G (p.Gln185Glu)
c.829C>G (p.Gln277Glu)
c.682C>G (p.Gln228Glu)
c.679C>G (p.Gln227Glu)
c.254C>G
c.586C>G (p.Gln196Glu)
c.439C>G (p.Gln147Glu)
c.292C>G (p.Gln98Glu)
n.1007C>G
n.867C>G
n.864C>G
4g.98416807C>TCA357480515RAP1GDS1c.826C>T (p.Gln276Ter)
c.553C>T (p.Gln185Ter)
c.829C>T (p.Gln277Ter)
c.682C>T (p.Gln228Ter)
c.679C>T (p.Gln227Ter)
c.254C>T
c.586C>T (p.Gln196Ter)
c.439C>T (p.Gln147Ter)
c.292C>T (p.Gln98Ter)
n.1007C>T
n.867C>T
n.864C>T
4g.98416808A>CCA357480521RAP1GDS1c.827A>C (p.Gln276Pro)
c.554A>C (p.Gln185Pro)
c.830A>C (p.Gln277Pro)
c.683A>C (p.Gln228Pro)
c.680A>C (p.Gln227Pro)
c.255A>C
c.587A>C (p.Gln196Pro)
c.440A>C (p.Gln147Pro)
c.293A>C (p.Gln98Pro)
n.1008A>C
n.868A>C
n.865A>C
gnomAD v4
4g.98416808A>GCA357480520RAP1GDS1c.827A>G (p.Gln276Arg)
c.554A>G (p.Gln185Arg)
c.830A>G (p.Gln277Arg)
c.683A>G (p.Gln228Arg)
c.680A>G (p.Gln227Arg)
c.255A>G
c.587A>G (p.Gln196Arg)
c.440A>G (p.Gln147Arg)
c.293A>G (p.Gln98Arg)
n.1008A>G
n.868A>G
n.865A>G
4g.98416808A>TCA357480522RAP1GDS1c.827A>T (p.Gln276Leu)
c.554A>T (p.Gln185Leu)
c.830A>T (p.Gln277Leu)
c.683A>T (p.Gln228Leu)
c.680A>T (p.Gln227Leu)
c.255A>T
c.587A>T (p.Gln196Leu)
c.440A>T (p.Gln147Leu)
c.293A>T (p.Gln98Leu)
n.1008A>T
n.868A>T
n.865A>T
4g.98416809A=CA1479543598RAP1GDS1c.828A= (p.Gln276=)
c.555A= (p.Gln185=)
c.831A= (p.Gln277=)
c.684A= (p.Gln228=)
c.681A= (p.Gln227=)
c.256A=
c.588A= (p.Gln196=)
c.441A= (p.Gln147=)
c.294A= (p.Gln98=)
n.1009A=
n.869A=
n.866A=
4g.98416809A>CCA357480524RAP1GDS1c.828A>C (p.Gln276His)
c.555A>C (p.Gln185His)
c.831A>C (p.Gln277His)
c.684A>C (p.Gln228His)
c.681A>C (p.Gln227His)
c.256A>C
c.588A>C (p.Gln196His)
c.441A>C (p.Gln147His)
c.294A>C (p.Gln98His)
n.1009A>C
n.869A>C
n.866A>C
4g.98416809A>GCA440300382RAP1GDS1c.828A>G (p.Gln276=)
c.555A>G (p.Gln185=)
c.831A>G (p.Gln277=)
c.684A>G (p.Gln228=)
c.681A>G (p.Gln227=)
c.256A>G
c.588A>G (p.Gln196=)
c.441A>G (p.Gln147=)
c.294A>G (p.Gln98=)
n.1009A>G
n.869A>G
n.866A>G
dbSNP gnomAD v3 gnomAD v4
4g.98416809A>TCA357480526RAP1GDS1c.828A>T (p.Gln276His)
c.555A>T (p.Gln185His)
c.831A>T (p.Gln277His)
c.684A>T (p.Gln228His)
c.681A>T (p.Gln227His)
c.256A>T
c.588A>T (p.Gln196His)
c.441A>T (p.Gln147His)
c.294A>T (p.Gln98His)
n.1009A>T
n.869A>T
n.866A>T
4g.98416810A>CCA357480530RAP1GDS1c.829A>C (p.Lys277Gln)
c.556A>C (p.Lys186Gln)
c.832A>C (p.Lys278Gln)
c.685A>C (p.Lys229Gln)
c.682A>C (p.Lys228Gln)
c.257A>C
c.589A>C (p.Lys197Gln)
c.442A>C (p.Lys148Gln)
c.295A>C (p.Lys99Gln)
n.1010A>C
n.870A>C
n.867A>C
4g.98416810A>GCA357480532RAP1GDS1c.829A>G (p.Lys277Glu)
c.556A>G (p.Lys186Glu)
c.832A>G (p.Lys278Glu)
c.685A>G (p.Lys229Glu)
c.682A>G (p.Lys228Glu)
c.257A>G
c.589A>G (p.Lys197Glu)
c.442A>G (p.Lys148Glu)
c.295A>G (p.Lys99Glu)
n.1010A>G
n.870A>G
n.867A>G
4g.98416810A>TCA357480534RAP1GDS1c.829A>T (p.Lys277Ter)
c.556A>T (p.Lys186Ter)
c.832A>T (p.Lys278Ter)
c.685A>T (p.Lys229Ter)
c.682A>T (p.Lys228Ter)
c.257A>T
c.589A>T (p.Lys197Ter)
c.442A>T (p.Lys148Ter)
c.295A>T (p.Lys99Ter)
n.1010A>T
n.870A>T
n.867A>T
4g.98416811A>CCA357480535RAP1GDS1c.830A>C (p.Lys277Thr)
c.557A>C (p.Lys186Thr)
c.833A>C (p.Lys278Thr)
c.686A>C (p.Lys229Thr)
c.683A>C (p.Lys228Thr)
c.258A>C
c.590A>C (p.Lys197Thr)
c.443A>C (p.Lys148Thr)
c.296A>C (p.Lys99Thr)
n.1011A>C
n.871A>C
n.868A>C
4g.98416811A>GCA357480536RAP1GDS1c.830A>G (p.Lys277Arg)
c.557A>G (p.Lys186Arg)
c.833A>G (p.Lys278Arg)
c.686A>G (p.Lys229Arg)
c.683A>G (p.Lys228Arg)
c.258A>G
c.590A>G (p.Lys197Arg)
c.443A>G (p.Lys148Arg)
c.296A>G (p.Lys99Arg)
n.1011A>G
n.871A>G
n.868A>G
4g.98416811A>TCA357480537RAP1GDS1c.830A>T (p.Lys277Ile)
c.557A>T (p.Lys186Ile)
c.833A>T (p.Lys278Ile)
c.686A>T (p.Lys229Ile)
c.683A>T (p.Lys228Ile)
c.258A>T
c.590A>T (p.Lys197Ile)
c.443A>T (p.Lys148Ile)
c.296A>T (p.Lys99Ile)
n.1011A>T
n.871A>T
n.868A>T
4g.98416812A=CA1479543599RAP1GDS1c.831A= (p.Lys277=)
c.558A= (p.Lys186=)
c.834A= (p.Lys278=)
c.687A= (p.Lys229=)
c.684A= (p.Lys228=)
c.259A=
c.591A= (p.Lys197=)
c.444A= (p.Lys148=)
c.297A= (p.Lys99=)
n.1012A=
n.872A=
n.869A=
4g.98416812A>CCA357480540RAP1GDS1c.831A>C (p.Lys277Asn)
c.558A>C (p.Lys186Asn)
c.834A>C (p.Lys278Asn)
c.687A>C (p.Lys229Asn)
c.684A>C (p.Lys228Asn)
c.259A>C
c.591A>C (p.Lys197Asn)
c.444A>C (p.Lys148Asn)
c.297A>C (p.Lys99Asn)
n.1012A>C
n.872A>C
n.869A>C
gnomAD v4
4g.98416812A>GCA440300384RAP1GDS1c.831A>G (p.Lys277=)
c.558A>G (p.Lys186=)
c.834A>G (p.Lys278=)
c.687A>G (p.Lys229=)
c.684A>G (p.Lys228=)
c.259A>G
c.591A>G (p.Lys197=)
c.444A>G (p.Lys148=)
c.297A>G (p.Lys99=)
n.1012A>G
n.872A>G
n.869A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.98416812A>TCA357480539RAP1GDS1c.831A>T (p.Lys277Asn)
c.558A>T (p.Lys186Asn)
c.834A>T (p.Lys278Asn)
c.687A>T (p.Lys229Asn)
c.684A>T (p.Lys228Asn)
c.259A>T
c.591A>T (p.Lys197Asn)
c.444A>T (p.Lys148Asn)
c.297A>T (p.Lys99Asn)
n.1012A>T
n.872A>T
n.869A>T
4g.98416813G>ACA357480543RAP1GDS1c.832G>A (p.Val278Met)
c.559G>A (p.Val187Met)
c.835G>A (p.Val279Met)
c.688G>A (p.Val230Met)
c.685G>A (p.Val229Met)
c.260G>A
c.592G>A (p.Val198Met)
c.445G>A (p.Val149Met)
c.298G>A (p.Val100Met)
n.1013G>A
n.873G>A
n.870G>A
gnomAD v4
4g.98416813G>CCA357480544RAP1GDS1c.832G>C (p.Val278Leu)
c.559G>C (p.Val187Leu)
c.835G>C (p.Val279Leu)
c.688G>C (p.Val230Leu)
c.685G>C (p.Val229Leu)
c.260G>C
c.592G>C (p.Val198Leu)
c.445G>C (p.Val149Leu)
c.298G>C (p.Val100Leu)
n.1013G>C
n.873G>C
n.870G>C
4g.98416813G>TCA357480545RAP1GDS1c.832G>T (p.Val278Leu)
c.559G>T (p.Val187Leu)
c.835G>T (p.Val279Leu)
c.688G>T (p.Val230Leu)
c.685G>T (p.Val229Leu)
c.260G>T
c.592G>T (p.Val198Leu)
c.445G>T (p.Val149Leu)
c.298G>T (p.Val100Leu)
n.1013G>T
n.873G>T
n.870G>T
COSMIC
4g.98416814T>ACA357480546RAP1GDS1c.833T>A (p.Val278Glu)
c.560T>A (p.Val187Glu)
c.836T>A (p.Val279Glu)
c.689T>A (p.Val230Glu)
c.686T>A (p.Val229Glu)
c.261T>A
c.593T>A (p.Val198Glu)
c.446T>A (p.Val149Glu)
c.299T>A (p.Val100Glu)
n.1014T>A
n.874T>A
n.871T>A
4g.98416814T>CCA357480547RAP1GDS1c.833T>C (p.Val278Ala)
c.560T>C (p.Val187Ala)
c.836T>C (p.Val279Ala)
c.689T>C (p.Val230Ala)
c.686T>C (p.Val229Ala)
c.261T>C
c.593T>C (p.Val198Ala)
c.446T>C (p.Val149Ala)
c.299T>C (p.Val100Ala)
n.1014T>C
n.874T>C
n.871T>C
4g.98416814T>GCA357480549RAP1GDS1c.833T>G (p.Val278Gly)
c.560T>G (p.Val187Gly)
c.836T>G (p.Val279Gly)
c.689T>G (p.Val230Gly)
c.686T>G (p.Val229Gly)
c.261T>G
c.593T>G (p.Val198Gly)
c.446T>G (p.Val149Gly)
c.299T>G (p.Val100Gly)
n.1014T>G
n.874T>G
n.871T>G
4g.98416815G>ACA440300385RAP1GDS1c.834G>A (p.Val278=)
c.561G>A (p.Val187=)
c.837G>A (p.Val279=)
c.690G>A (p.Val230=)
c.687G>A (p.Val229=)
c.262G>A
c.594G>A (p.Val198=)
c.447G>A (p.Val149=)
c.300G>A (p.Val100=)
n.1015G>A
n.875G>A
n.872G>A
gnomAD v4
4g.98416815G>CCA440300387RAP1GDS1c.834G>C (p.Val278=)
c.561G>C (p.Val187=)
c.837G>C (p.Val279=)
c.690G>C (p.Val230=)
c.687G>C (p.Val229=)
c.262G>C
c.594G>C (p.Val198=)
c.447G>C (p.Val149=)
c.300G>C (p.Val100=)
n.1015G>C
n.875G>C
n.872G>C
4g.98416815G>TCA440300386RAP1GDS1c.834G>T (p.Val278=)
c.561G>T (p.Val187=)
c.837G>T (p.Val279=)
c.690G>T (p.Val230=)
c.687G>T (p.Val229=)
c.262G>T
c.594G>T (p.Val198=)
c.447G>T (p.Val149=)
c.300G>T (p.Val100=)
n.1015G>T
n.875G>T
n.872G>T
4g.98416816G>ACA357480551RAP1GDS1c.835G>A (p.Asp279Asn)
c.562G>A (p.Asp188Asn)
c.838G>A (p.Asp280Asn)
c.691G>A (p.Asp231Asn)
c.688G>A (p.Asp230Asn)
c.263G>A
c.595G>A (p.Asp199Asn)
c.448G>A (p.Asp150Asn)
c.301G>A (p.Asp101Asn)
n.1016G>A
n.876G>A
n.873G>A
dbSNP gnomAD v3 gnomAD v4
4g.98416816G>CCA357480555RAP1GDS1c.835G>C (p.Asp279His)
c.562G>C (p.Asp188His)
c.838G>C (p.Asp280His)
c.691G>C (p.Asp231His)
c.688G>C (p.Asp230His)
c.263G>C
c.595G>C (p.Asp199His)
c.448G>C (p.Asp150His)
c.301G>C (p.Asp101His)
n.1016G>C
n.876G>C
n.873G>C
4g.98416816G=CA1479543600RAP1GDS1c.835G= (p.Asp279=)
c.562G= (p.Asp188=)
c.838G= (p.Asp280=)
c.691G= (p.Asp231=)
c.688G= (p.Asp230=)
c.263G=
c.595G= (p.Asp199=)
c.448G= (p.Asp150=)
c.301G= (p.Asp101=)
n.1016G=
n.876G=
n.873G=
4g.98416816G>TCA357480553RAP1GDS1c.835G>T (p.Asp279Tyr)
c.562G>T (p.Asp188Tyr)
c.838G>T (p.Asp280Tyr)
c.691G>T (p.Asp231Tyr)
c.688G>T (p.Asp230Tyr)
c.263G>T
c.595G>T (p.Asp199Tyr)
c.448G>T (p.Asp150Tyr)
c.301G>T (p.Asp101Tyr)
n.1016G>T
n.876G>T
n.873G>T
4g.98416817A=CA1479543601RAP1GDS1c.836A= (p.Asp279=)
c.563A= (p.Asp188=)
c.839A= (p.Asp280=)
c.692A= (p.Asp231=)
c.689A= (p.Asp230=)
c.264A=
c.596A= (p.Asp199=)
c.449A= (p.Asp150=)
c.302A= (p.Asp101=)
n.1017A=
n.877A=
n.874A=
4g.98416817A>CCA357480557RAP1GDS1c.836A>C (p.Asp279Ala)
c.563A>C (p.Asp188Ala)
c.839A>C (p.Asp280Ala)
c.692A>C (p.Asp231Ala)
c.689A>C (p.Asp230Ala)
c.264A>C
c.596A>C (p.Asp199Ala)
c.449A>C (p.Asp150Ala)
c.302A>C (p.Asp101Ala)
n.1017A>C
n.877A>C
n.874A>C
4g.98416817A>GCA357480558RAP1GDS1c.836A>G (p.Asp279Gly)
c.563A>G (p.Asp188Gly)
c.839A>G (p.Asp280Gly)
c.692A>G (p.Asp231Gly)
c.689A>G (p.Asp230Gly)
c.264A>G
c.596A>G (p.Asp199Gly)
c.449A>G (p.Asp150Gly)
c.302A>G (p.Asp101Gly)
n.1017A>G
n.877A>G
n.874A>G
4g.98416817A>TCA357480560RAP1GDS1c.836A>T (p.Asp279Val)
c.563A>T (p.Asp188Val)
c.839A>T (p.Asp280Val)
c.692A>T (p.Asp231Val)
c.689A>T (p.Asp230Val)
c.264A>T
c.596A>T (p.Asp199Val)
c.449A>T (p.Asp150Val)
c.302A>T (p.Asp101Val)
n.1017A>T
n.877A>T
n.874A>T
4g.98416818T>ACA357480561RAP1GDS1c.837T>A (p.Asp279Glu)
c.564T>A (p.Asp188Glu)
c.840T>A (p.Asp280Glu)
c.693T>A (p.Asp231Glu)
c.690T>A (p.Asp230Glu)
c.265T>A
c.597T>A (p.Asp199Glu)
c.450T>A (p.Asp150Glu)
c.303T>A (p.Asp101Glu)
n.1018T>A
n.878T>A
n.875T>A
4g.98416818T>CCA440300391RAP1GDS1c.837T>C (p.Asp279=)
c.564T>C (p.Asp188=)
c.840T>C (p.Asp280=)
c.693T>C (p.Asp231=)
c.690T>C (p.Asp230=)
c.265T>C
c.597T>C (p.Asp199=)
c.450T>C (p.Asp150=)
c.303T>C (p.Asp101=)
n.1018T>C
n.878T>C
n.875T>C
4g.98416818T>GCA357480563RAP1GDS1c.837T>G (p.Asp279Glu)
c.564T>G (p.Asp188Glu)
c.840T>G (p.Asp280Glu)
c.693T>G (p.Asp231Glu)
c.690T>G (p.Asp230Glu)
c.265T>G
c.597T>G (p.Asp199Glu)
c.450T>G (p.Asp150Glu)
c.303T>G (p.Asp101Glu)
n.1018T>G
n.878T>G
n.875T>G
4g.98416818dupCA800656587RAP1GDS1c.837dup (p.Ser280Ter)
c.564dup (p.Ser189Ter)
c.840dup (p.Ser281Ter)
c.693dup (p.Ser232Ter)
c.690dup (p.Ser231Ter)
c.265dup
c.597dup (p.Ser200Ter)
c.450dup (p.Ser151Ter)
c.303dup (p.Ser102Ter)
n.1018dup
n.878dup
n.875dup
dbSNP
4g.98416819A=CA1479543602RAP1GDS1c.838A= (p.Ser280=)
c.565A= (p.Ser189=)
c.841A= (p.Ser281=)
c.694A= (p.Ser232=)
c.691A= (p.Ser231=)
c.266A=
c.598A= (p.Ser200=)
c.451A= (p.Ser151=)
c.304A= (p.Ser102=)
n.1019A=
n.879A=
n.876A=
4g.98416819A>CCA357480564RAP1GDS1c.838A>C (p.Ser280Arg)
c.565A>C (p.Ser189Arg)
c.841A>C (p.Ser281Arg)
c.694A>C (p.Ser232Arg)
c.691A>C (p.Ser231Arg)
c.266A>C
c.598A>C (p.Ser200Arg)
c.451A>C (p.Ser151Arg)
c.304A>C (p.Ser102Arg)
n.1019A>C
n.879A>C
n.876A>C
dbSNP
4g.98416819A>GCA357480565RAP1GDS1c.838A>G (p.Ser280Gly)
c.565A>G (p.Ser189Gly)
c.841A>G (p.Ser281Gly)
c.694A>G (p.Ser232Gly)
c.691A>G (p.Ser231Gly)
c.266A>G
c.598A>G (p.Ser200Gly)
c.451A>G (p.Ser151Gly)
c.304A>G (p.Ser102Gly)
n.1019A>G
n.879A>G
n.876A>G
4g.98416819A>TCA357480566RAP1GDS1c.838A>T (p.Ser280Cys)
c.565A>T (p.Ser189Cys)
c.841A>T (p.Ser281Cys)
c.694A>T (p.Ser232Cys)
c.691A>T (p.Ser231Cys)
c.266A>T
c.598A>T (p.Ser200Cys)
c.451A>T (p.Ser151Cys)
c.304A>T (p.Ser102Cys)
n.1019A>T
n.879A>T
n.876A>T
4g.98416820G>ACA357480567RAP1GDS1c.839G>A (p.Ser280Asn)
c.566G>A (p.Ser189Asn)
c.842G>A (p.Ser281Asn)
c.695G>A (p.Ser232Asn)
c.692G>A (p.Ser231Asn)
c.267G>A
c.599G>A (p.Ser200Asn)
c.452G>A (p.Ser151Asn)
c.305G>A (p.Ser102Asn)
n.1020G>A
n.880G>A
n.877G>A
dbSNP
4g.98416820G>CCA357480568RAP1GDS1c.839G>C (p.Ser280Thr)
c.566G>C (p.Ser189Thr)
c.842G>C (p.Ser281Thr)
c.695G>C (p.Ser232Thr)
c.692G>C (p.Ser231Thr)
c.267G>C
c.599G>C (p.Ser200Thr)
c.452G>C (p.Ser151Thr)
c.305G>C (p.Ser102Thr)
n.1020G>C
n.880G>C
n.877G>C
4g.98416820G=CA1479543603RAP1GDS1c.839G= (p.Ser280=)
c.566G= (p.Ser189=)
c.842G= (p.Ser281=)
c.695G= (p.Ser232=)
c.692G= (p.Ser231=)
c.267G=
c.599G= (p.Ser200=)
c.452G= (p.Ser151=)
c.305G= (p.Ser102=)
n.1020G=
n.880G=
n.877G=
4g.98416820G>TCA357480570RAP1GDS1c.839G>T (p.Ser280Ile)
c.566G>T (p.Ser189Ile)
c.842G>T (p.Ser281Ile)
c.695G>T (p.Ser232Ile)
c.692G>T (p.Ser231Ile)
c.267G>T
c.599G>T (p.Ser200Ile)
c.452G>T (p.Ser151Ile)
c.305G>T (p.Ser102Ile)
n.1020G>T
n.880G>T
n.877G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.98416821T>ACA357480572RAP1GDS1c.840T>A (p.Ser280Arg)
c.567T>A (p.Ser189Arg)
c.843T>A (p.Ser281Arg)
c.696T>A (p.Ser232Arg)
c.693T>A (p.Ser231Arg)
c.268T>A
c.600T>A (p.Ser200Arg)
c.453T>A (p.Ser151Arg)
c.306T>A (p.Ser102Arg)
n.1021T>A
n.881T>A
n.878T>A
4g.98416821T>CCA440300393RAP1GDS1c.840T>C (p.Ser280=)
c.567T>C (p.Ser189=)
c.843T>C (p.Ser281=)
c.696T>C (p.Ser232=)
c.693T>C (p.Ser231=)
c.268T>C
c.600T>C (p.Ser200=)
c.453T>C (p.Ser151=)
c.306T>C (p.Ser102=)
n.1021T>C
n.881T>C
n.878T>C
4g.98416821T>GCA357480574RAP1GDS1c.840T>G (p.Ser280Arg)
c.567T>G (p.Ser189Arg)
c.843T>G (p.Ser281Arg)
c.696T>G (p.Ser232Arg)
c.693T>G (p.Ser231Arg)
c.268T>G
c.600T>G (p.Ser200Arg)
c.453T>G (p.Ser151Arg)
c.306T>G (p.Ser102Arg)
n.1021T>G
n.881T>G
n.878T>G
dbSNP
4g.98416821T=CA1479543604RAP1GDS1c.840T= (p.Ser280=)
c.567T= (p.Ser189=)
c.843T= (p.Ser281=)
c.696T= (p.Ser232=)
c.693T= (p.Ser231=)
c.268T=
c.600T= (p.Ser200=)
c.453T= (p.Ser151=)
c.306T= (p.Ser102=)
n.1021T=
n.881T=
n.878T=
4g.98416822G>ACA357480577RAP1GDS1c.841G>A (p.Asp281Asn)
c.568G>A (p.Asp190Asn)
c.844G>A (p.Asp282Asn)
c.697G>A (p.Asp233Asn)
c.694G>A (p.Asp232Asn)
c.269G>A
c.601G>A (p.Asp201Asn)
c.454G>A (p.Asp152Asn)
c.307G>A (p.Asp103Asn)
n.1022G>A
n.882G>A
n.879G>A
dbSNP
4g.98416822G>CCA357480578RAP1GDS1c.841G>C (p.Asp281His)
c.568G>C (p.Asp190His)
c.844G>C (p.Asp282His)
c.697G>C (p.Asp233His)
c.694G>C (p.Asp232His)
c.269G>C
c.601G>C (p.Asp201His)
c.454G>C (p.Asp152His)
c.307G>C (p.Asp103His)
n.1022G>C
n.882G>C
n.879G>C
4g.98416822G=CA1479543605RAP1GDS1c.841G= (p.Asp281=)
c.568G= (p.Asp190=)
c.844G= (p.Asp282=)
c.697G= (p.Asp233=)
c.694G= (p.Asp232=)
c.269G=
c.601G= (p.Asp201=)
c.454G= (p.Asp152=)
c.307G= (p.Asp103=)
n.1022G=
n.882G=
n.879G=
4g.98416822G>TCA357480580RAP1GDS1c.841G>T (p.Asp281Tyr)
c.568G>T (p.Asp190Tyr)
c.844G>T (p.Asp282Tyr)
c.697G>T (p.Asp233Tyr)
c.694G>T (p.Asp232Tyr)
c.269G>T
c.601G>T (p.Asp201Tyr)
c.454G>T (p.Asp152Tyr)
c.307G>T (p.Asp103Tyr)
n.1022G>T
n.882G>T
n.879G>T
4g.98416823A>CCA357480582RAP1GDS1c.842A>C (p.Asp281Ala)
c.569A>C (p.Asp190Ala)
c.845A>C (p.Asp282Ala)
c.698A>C (p.Asp233Ala)
c.695A>C (p.Asp232Ala)
c.270A>C
c.602A>C (p.Asp201Ala)
c.455A>C (p.Asp152Ala)
c.308A>C (p.Asp103Ala)
n.1023A>C
n.883A>C
n.880A>C
4g.98416823A>GCA357480583RAP1GDS1c.842A>G (p.Asp281Gly)
c.569A>G (p.Asp190Gly)
c.845A>G (p.Asp282Gly)
c.698A>G (p.Asp233Gly)
c.695A>G (p.Asp232Gly)
c.270A>G
c.602A>G (p.Asp201Gly)
c.455A>G (p.Asp152Gly)
c.308A>G (p.Asp103Gly)
n.1023A>G
n.883A>G
n.880A>G
4g.98416823A>TCA357480585RAP1GDS1c.842A>T (p.Asp281Val)
c.569A>T (p.Asp190Val)
c.845A>T (p.Asp282Val)
c.698A>T (p.Asp233Val)
c.695A>T (p.Asp232Val)
c.270A>T
c.602A>T (p.Asp201Val)
c.455A>T (p.Asp152Val)
c.308A>T (p.Asp103Val)
n.1023A>T
n.883A>T
n.880A>T
4g.98416824C>ACA357480587RAP1GDS1c.843C>A (p.Asp281Glu)
c.570C>A (p.Asp190Glu)
c.846C>A (p.Asp282Glu)
c.699C>A (p.Asp233Glu)
c.696C>A (p.Asp232Glu)
c.271C>A
c.603C>A (p.Asp201Glu)
c.456C>A (p.Asp152Glu)
c.309C>A (p.Asp103Glu)
n.1024C>A
n.884C>A
n.881C>A
4g.98416824C>GCA357480592RAP1GDS1c.843C>G (p.Asp281Glu)
c.570C>G (p.Asp190Glu)
c.846C>G (p.Asp282Glu)
c.699C>G (p.Asp233Glu)
c.696C>G (p.Asp232Glu)
c.271C>G
c.603C>G (p.Asp201Glu)
c.456C>G (p.Asp152Glu)
c.309C>G (p.Asp103Glu)
n.1024C>G
n.884C>G
n.881C>G
4g.98416824C>TCA440300394RAP1GDS1c.843C>T (p.Asp281=)
c.570C>T (p.Asp190=)
c.846C>T (p.Asp282=)
c.699C>T (p.Asp233=)
c.696C>T (p.Asp232=)
c.271C>T
c.603C>T (p.Asp201=)
c.456C>T (p.Asp152=)
c.309C>T (p.Asp103=)
n.1024C>T
n.884C>T
n.881C>T
4g.98416825A>CCA357480594RAP1GDS1c.844A>C (p.Lys282Gln)
c.571A>C (p.Lys191Gln)
c.847A>C (p.Lys283Gln)
c.700A>C (p.Lys234Gln)
c.697A>C (p.Lys233Gln)
c.272A>C
c.604A>C (p.Lys202Gln)
c.457A>C (p.Lys153Gln)
c.310A>C (p.Lys104Gln)
n.1025A>C
n.885A>C
n.882A>C
4g.98416825A>GCA357480606RAP1GDS1c.844A>G (p.Lys282Glu)
c.571A>G (p.Lys191Glu)
c.847A>G (p.Lys283Glu)
c.700A>G (p.Lys234Glu)
c.697A>G (p.Lys233Glu)
c.272A>G
c.604A>G (p.Lys202Glu)
c.457A>G (p.Lys153Glu)
c.310A>G (p.Lys104Glu)
n.1025A>G
n.885A>G
n.882A>G
4g.98416825A>TCA357480611RAP1GDS1c.844A>T (p.Lys282Ter)
c.571A>T (p.Lys191Ter)
c.847A>T (p.Lys283Ter)
c.700A>T (p.Lys234Ter)
c.697A>T (p.Lys233Ter)
c.272A>T
c.604A>T (p.Lys202Ter)
c.457A>T (p.Lys153Ter)
c.310A>T (p.Lys104Ter)
n.1025A>T
n.885A>T
n.882A>T
4g.98416826A>CCA357480613RAP1GDS1c.845A>C (p.Lys282Thr)
c.572A>C (p.Lys191Thr)
c.848A>C (p.Lys283Thr)
c.701A>C (p.Lys234Thr)
c.698A>C (p.Lys233Thr)
c.273A>C
c.605A>C (p.Lys202Thr)
c.458A>C (p.Lys153Thr)
c.311A>C (p.Lys104Thr)
n.1026A>C
n.886A>C
n.883A>C
4g.98416826A>GCA357480614RAP1GDS1c.845A>G (p.Lys282Arg)
c.572A>G (p.Lys191Arg)
c.848A>G (p.Lys283Arg)
c.701A>G (p.Lys234Arg)
c.698A>G (p.Lys233Arg)
c.273A>G
c.605A>G (p.Lys202Arg)
c.458A>G (p.Lys153Arg)
c.311A>G (p.Lys104Arg)
n.1026A>G
n.886A>G
n.883A>G
4g.98416826A>TCA357480615RAP1GDS1c.845A>T (p.Lys282Ile)
c.572A>T (p.Lys191Ile)
c.848A>T (p.Lys283Ile)
c.701A>T (p.Lys234Ile)
c.698A>T (p.Lys233Ile)
c.273A>T
c.605A>T (p.Lys202Ile)
c.458A>T (p.Lys153Ile)
c.311A>T (p.Lys104Ile)
n.1026A>T
n.886A>T
n.883A>T
4g.98416827A>CCA357480616RAP1GDS1c.846A>C (p.Lys282Asn)
c.573A>C (p.Lys191Asn)
c.849A>C (p.Lys283Asn)
c.702A>C (p.Lys234Asn)
c.699A>C (p.Lys233Asn)
c.274A>C
c.606A>C (p.Lys202Asn)
c.459A>C (p.Lys153Asn)
c.312A>C (p.Lys104Asn)
n.1027A>C
n.887A>C
n.884A>C
4g.98416827A>GCA440300395RAP1GDS1c.846A>G (p.Lys282=)
c.573A>G (p.Lys191=)
c.849A>G (p.Lys283=)
c.702A>G (p.Lys234=)
c.699A>G (p.Lys233=)
c.274A>G
c.606A>G (p.Lys202=)
c.459A>G (p.Lys153=)
c.312A>G (p.Lys104=)
n.1027A>G
n.887A>G
n.884A>G
4g.98416827A>TCA357480617RAP1GDS1c.846A>T (p.Lys282Asn)
c.573A>T (p.Lys191Asn)
c.849A>T (p.Lys283Asn)
c.702A>T (p.Lys234Asn)
c.699A>T (p.Lys233Asn)
c.274A>T
c.606A>T (p.Lys202Asn)
c.459A>T (p.Lys153Asn)
c.312A>T (p.Lys104Asn)
n.1027A>T
n.887A>T
n.884A>T
4g.98416828G>ACA357480619RAP1GDS1c.847G>A (p.Glu283Lys)
c.574G>A (p.Glu192Lys)
c.850G>A (p.Glu284Lys)
c.703G>A (p.Glu235Lys)
c.700G>A (p.Glu234Lys)
c.275G>A
c.607G>A (p.Glu203Lys)
c.460G>A (p.Glu154Lys)
c.313G>A (p.Glu105Lys)
n.1028G>A
n.888G>A
n.885G>A
4g.98416828G>CCA357480620RAP1GDS1c.847G>C (p.Glu283Gln)
c.574G>C (p.Glu192Gln)
c.850G>C (p.Glu284Gln)
c.703G>C (p.Glu235Gln)
c.700G>C (p.Glu234Gln)
c.275G>C
c.607G>C (p.Glu203Gln)
c.460G>C (p.Glu154Gln)
c.313G>C (p.Glu105Gln)
n.1028G>C
n.888G>C
n.885G>C
COSMIC
4g.98416828G>TCA357480621RAP1GDS1c.847G>T (p.Glu283Ter)
c.574G>T (p.Glu192Ter)
c.850G>T (p.Glu284Ter)
c.703G>T (p.Glu235Ter)
c.700G>T (p.Glu234Ter)
c.275G>T
c.607G>T (p.Glu203Ter)
c.460G>T (p.Glu154Ter)
c.313G>T (p.Glu105Ter)
n.1028G>T
n.888G>T
n.885G>T
4g.98416829A=CA1479543606RAP1GDS1c.848A= (p.Glu283=)
c.575A= (p.Glu192=)
c.851A= (p.Glu284=)
c.704A= (p.Glu235=)
c.701A= (p.Glu234=)
c.276A=
c.608A= (p.Glu203=)
c.461A= (p.Glu154=)
c.314A= (p.Glu105=)
n.1029A=
n.889A=
n.886A=
4g.98416829A>CCA357480628RAP1GDS1c.848A>C (p.Glu283Ala)
c.575A>C (p.Glu192Ala)
c.851A>C (p.Glu284Ala)
c.704A>C (p.Glu235Ala)
c.701A>C (p.Glu234Ala)
c.276A>C
c.608A>C (p.Glu203Ala)
c.461A>C (p.Glu154Ala)
c.314A>C (p.Glu105Ala)
n.1029A>C
n.889A>C
n.886A>C
4g.98416829A>GCA357480630RAP1GDS1c.848A>G (p.Glu283Gly)
c.575A>G (p.Glu192Gly)
c.851A>G (p.Glu284Gly)
c.704A>G (p.Glu235Gly)
c.701A>G (p.Glu234Gly)
c.276A>G
c.608A>G (p.Glu203Gly)
c.461A>G (p.Glu154Gly)
c.314A>G (p.Glu105Gly)
n.1029A>G
n.889A>G
n.886A>G
dbSNP
4g.98416829A>TCA357480632RAP1GDS1c.848A>T (p.Glu283Val)
c.575A>T (p.Glu192Val)
c.851A>T (p.Glu284Val)
c.704A>T (p.Glu235Val)
c.701A>T (p.Glu234Val)
c.276A>T
c.608A>T (p.Glu203Val)
c.461A>T (p.Glu154Val)
c.314A>T (p.Glu105Val)
n.1029A>T
n.889A>T
n.886A>T
4g.98416830A=CA1479543607RAP1GDS1c.849A= (p.Glu283=)
c.576A= (p.Glu192=)
c.852A= (p.Glu284=)
c.705A= (p.Glu235=)
c.702A= (p.Glu234=)
c.277A=
c.609A= (p.Glu203=)
c.462A= (p.Glu154=)
c.315A= (p.Glu105=)
n.1030A=
n.890A=
n.887A=
4g.98416830A>CCA357480634RAP1GDS1c.849A>C (p.Glu283Asp)
c.576A>C (p.Glu192Asp)
c.852A>C (p.Glu284Asp)
c.705A>C (p.Glu235Asp)
c.702A>C (p.Glu234Asp)
c.277A>C
c.609A>C (p.Glu203Asp)
c.462A>C (p.Glu154Asp)
c.315A>C (p.Glu105Asp)
n.1030A>C
n.890A>C
n.887A>C
gnomAD v4
4g.98416830A>GCA440300396RAP1GDS1c.849A>G (p.Glu283=)
c.576A>G (p.Glu192=)
c.852A>G (p.Glu284=)
c.705A>G (p.Glu235=)
c.702A>G (p.Glu234=)
c.277A>G
c.609A>G (p.Glu203=)
c.462A>G (p.Glu154=)
c.315A>G (p.Glu105=)
n.1030A>G
n.890A>G
n.887A>G
dbSNP gnomAD v3 gnomAD v4
4g.98416830A>TCA357480636RAP1GDS1c.849A>T (p.Glu283Asp)
c.576A>T (p.Glu192Asp)
c.852A>T (p.Glu284Asp)
c.705A>T (p.Glu235Asp)
c.702A>T (p.Glu234Asp)
c.277A>T
c.609A>T (p.Glu203Asp)
c.462A>T (p.Glu154Asp)
c.315A>T (p.Glu105Asp)
n.1030A>T
n.890A>T
n.887A>T
dbSNP
4g.98416831G>ACA357480643RAP1GDS1c.850G>A (p.Asp284Asn)
c.577G>A (p.Asp193Asn)
c.853G>A (p.Asp285Asn)
c.706G>A (p.Asp236Asn)
c.703G>A (p.Asp235Asn)
c.278G>A
c.610G>A (p.Asp204Asn)
c.463G>A (p.Asp155Asn)
c.316G>A (p.Asp106Asn)
n.1031G>A
n.891G>A
n.888G>A
4g.98416831G>CCA357480644RAP1GDS1c.850G>C (p.Asp284His)
c.577G>C (p.Asp193His)
c.853G>C (p.Asp285His)
c.706G>C (p.Asp236His)
c.703G>C (p.Asp235His)
c.278G>C
c.610G>C (p.Asp204His)
c.463G>C (p.Asp155His)
c.316G>C (p.Asp106His)
n.1031G>C
n.891G>C
n.888G>C
4g.98416831G>TCA357480646RAP1GDS1c.850G>T (p.Asp284Tyr)
c.577G>T (p.Asp193Tyr)
c.853G>T (p.Asp285Tyr)
c.706G>T (p.Asp236Tyr)
c.703G>T (p.Asp235Tyr)
c.278G>T
c.610G>T (p.Asp204Tyr)
c.463G>T (p.Asp155Tyr)
c.316G>T (p.Asp106Tyr)
n.1031G>T
n.891G>T
n.888G>T
4g.98416834_98416836delCA2578149178RAP1GDS1c.853_855del (p.Asp285del)
c.580_582del (p.Asp194del)
c.856_858del (p.Asp286del)
c.709_711del (p.Asp237del)
c.706_708del (p.Asp236del)
c.281_283del
c.613_615del (p.Asp205del)
c.466_468del (p.Asp156del)
c.319_321del (p.Asp107del)
n.1034_1036del
n.894_896del
n.891_893del
gnomAD v4
4g.98416832A=CA1479543608RAP1GDS1c.851A= (p.Asp284=)
c.578A= (p.Asp193=)
c.854A= (p.Asp285=)
c.707A= (p.Asp236=)
c.704A= (p.Asp235=)
c.279A=
c.611A= (p.Asp204=)
c.464A= (p.Asp155=)
c.317A= (p.Asp106=)
n.1032A=
n.892A=
n.889A=
4g.98416832A>CCA357480651RAP1GDS1c.851A>C (p.Asp284Ala)
c.578A>C (p.Asp193Ala)
c.854A>C (p.Asp285Ala)
c.707A>C (p.Asp236Ala)
c.704A>C (p.Asp235Ala)
c.279A>C
c.611A>C (p.Asp204Ala)
c.464A>C (p.Asp155Ala)
c.317A>C (p.Asp106Ala)
n.1032A>C
n.892A>C
n.889A>C
4g.98416832A>GCA357480650RAP1GDS1c.851A>G (p.Asp284Gly)
c.578A>G (p.Asp193Gly)
c.854A>G (p.Asp285Gly)
c.707A>G (p.Asp236Gly)
c.704A>G (p.Asp235Gly)
c.279A>G
c.611A>G (p.Asp204Gly)
c.464A>G (p.Asp155Gly)
c.317A>G (p.Asp106Gly)
n.1032A>G
n.892A>G
n.889A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.98416832A>TCA357480648RAP1GDS1c.851A>T (p.Asp284Val)
c.578A>T (p.Asp193Val)
c.854A>T (p.Asp285Val)
c.707A>T (p.Asp236Val)
c.704A>T (p.Asp235Val)
c.279A>T
c.611A>T (p.Asp204Val)
c.464A>T (p.Asp155Val)
c.317A>T (p.Asp106Val)
n.1032A>T
n.892A>T
n.889A>T
4g.98416833T>ACA357480653RAP1GDS1c.852T>A (p.Asp284Glu)
c.579T>A (p.Asp193Glu)
c.855T>A (p.Asp285Glu)
c.708T>A (p.Asp236Glu)
c.705T>A (p.Asp235Glu)
c.280T>A
c.612T>A (p.Asp204Glu)
c.465T>A (p.Asp155Glu)
c.318T>A (p.Asp106Glu)
n.1033T>A
n.893T>A
n.890T>A
4g.98416833T>CCA440300397RAP1GDS1c.852T>C (p.Asp284=)
c.579T>C (p.Asp193=)
c.855T>C (p.Asp285=)
c.708T>C (p.Asp236=)
c.705T>C (p.Asp235=)
c.280T>C
c.612T>C (p.Asp204=)
c.465T>C (p.Asp155=)
c.318T>C (p.Asp106=)
n.1033T>C
n.893T>C
n.890T>C
4g.98416833T>GCA357480655RAP1GDS1c.852T>G (p.Asp284Glu)
c.579T>G (p.Asp193Glu)
c.855T>G (p.Asp285Glu)
c.708T>G (p.Asp236Glu)
c.705T>G (p.Asp235Glu)
c.280T>G
c.612T>G (p.Asp204Glu)
c.465T>G (p.Asp155Glu)
c.318T>G (p.Asp106Glu)
n.1033T>G
n.893T>G
n.890T>G

Number of alleles fetched