Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.90712276T>CCA2674569997ADGRV1c.9043-11T>C (n.9043-11T>C)
c.265+36067T>C (n.265+36067T>C)
n.4502-11T>C
c.2850-11T>C
n.2187-11T>C
c.3772-11T>C
c.1740-11T>C
n.9056-11T>C
c.9040-11T>C (n.9040-11T>C)
c.8962-11T>C (n.8962-11T>C)
c.6346-11T>C (n.6346-11T>C)
c.9064-11T>C (n.9064-11T>C)
c.9061-11T>C (n.9061-11T>C)
c.8983-11T>C (n.8983-11T>C)
c.8968-11T>C (n.8968-11T>C)
c.2182-11T>C (n.2182-11T>C)
c.2161-11T>C (n.2161-11T>C)
n.9059-11T>C
gnomAD v4
5g.90712280delCA2578359586ADGRV1c.9043-7del (n.9043-7del)
c.265+36071del (n.265+36071del)
n.4502-7del
c.2850-7del
n.2187-7del
c.3772-7del
c.1740-7del
n.9056-7del
c.9040-7del (n.9040-7del)
c.8962-7del (n.8962-7del)
c.6346-7del (n.6346-7del)
c.9064-7del (n.9064-7del)
c.9061-7del (n.9061-7del)
c.8983-7del (n.8983-7del)
c.8968-7del (n.8968-7del)
c.2182-7del (n.2182-7del)
c.2161-7del (n.2161-7del)
n.9059-7del
gnomAD v4
5g.90712277T>ACA1562867510ADGRV1c.9043-10T>A (n.9043-10T>A)
c.265+36068T>A (n.265+36068T>A)
n.4502-10T>A
c.2850-10T>A
n.2187-10T>A
c.3772-10T>A
c.1740-10T>A
n.9056-10T>A
c.9040-10T>A (n.9040-10T>A)
c.8962-10T>A (n.8962-10T>A)
c.6346-10T>A (n.6346-10T>A)
c.9064-10T>A (n.9064-10T>A)
c.9061-10T>A (n.9061-10T>A)
c.8983-10T>A (n.8983-10T>A)
c.8968-10T>A (n.8968-10T>A)
c.2182-10T>A (n.2182-10T>A)
c.2161-10T>A (n.2161-10T>A)
n.9059-10T>A
dbSNP gnomAD v4
5g.90712277T>GCA2674569998ADGRV1c.9043-10T>G (n.9043-10T>G)
c.265+36068T>G (n.265+36068T>G)
n.4502-10T>G
c.2850-10T>G
n.2187-10T>G
c.3772-10T>G
c.1740-10T>G
n.9056-10T>G
c.9040-10T>G (n.9040-10T>G)
c.8962-10T>G (n.8962-10T>G)
c.6346-10T>G (n.6346-10T>G)
c.9064-10T>G (n.9064-10T>G)
c.9061-10T>G (n.9061-10T>G)
c.8983-10T>G (n.8983-10T>G)
c.8968-10T>G (n.8968-10T>G)
c.2182-10T>G (n.2182-10T>G)
c.2161-10T>G (n.2161-10T>G)
n.9059-10T>G
gnomAD v4
5g.90712277T=CA1562867509ADGRV1c.9043-10T= (n.9043-10T=)
c.265+36068T= (n.265+36068T=)
n.4502-10T=
c.2850-10T=
n.2187-10T=
c.3772-10T=
c.1740-10T=
n.9056-10T=
c.9040-10T= (n.9040-10T=)
c.8962-10T= (n.8962-10T=)
c.6346-10T= (n.6346-10T=)
c.9064-10T= (n.9064-10T=)
c.9061-10T= (n.9061-10T=)
c.8983-10T= (n.8983-10T=)
c.8968-10T= (n.8968-10T=)
c.2182-10T= (n.2182-10T=)
c.2161-10T= (n.2161-10T=)
n.9059-10T=
5g.90712279T>CCA2674570000ADGRV1c.9043-8T>C (n.9043-8T>C)
c.265+36070T>C (n.265+36070T>C)
n.4502-8T>C
c.2850-8T>C
n.2187-8T>C
c.3772-8T>C
c.1740-8T>C
n.9056-8T>C
c.9040-8T>C (n.9040-8T>C)
c.8962-8T>C (n.8962-8T>C)
c.6346-8T>C (n.6346-8T>C)
c.9064-8T>C (n.9064-8T>C)
c.9061-8T>C (n.9061-8T>C)
c.8983-8T>C (n.8983-8T>C)
c.8968-8T>C (n.8968-8T>C)
c.2182-8T>C (n.2182-8T>C)
c.2161-8T>C (n.2161-8T>C)
n.9059-8T>C
gnomAD v4
5g.90712279T>GCA2674569999ADGRV1c.9043-8T>G (n.9043-8T>G)
c.265+36070T>G (n.265+36070T>G)
n.4502-8T>G
c.2850-8T>G
n.2187-8T>G
c.3772-8T>G
c.1740-8T>G
n.9056-8T>G
c.9040-8T>G (n.9040-8T>G)
c.8962-8T>G (n.8962-8T>G)
c.6346-8T>G (n.6346-8T>G)
c.9064-8T>G (n.9064-8T>G)
c.9061-8T>G (n.9061-8T>G)
c.8983-8T>G (n.8983-8T>G)
c.8968-8T>G (n.8968-8T>G)
c.2182-8T>G (n.2182-8T>G)
c.2161-8T>G (n.2161-8T>G)
n.9059-8T>G
gnomAD v4
5g.90712280T>CCA2674570001ADGRV1c.9043-7T>C (n.9043-7T>C)
c.265+36071T>C (n.265+36071T>C)
n.4502-7T>C
c.2850-7T>C
n.2187-7T>C
c.3772-7T>C
c.1740-7T>C
n.9056-7T>C
c.9040-7T>C (n.9040-7T>C)
c.8962-7T>C (n.8962-7T>C)
c.6346-7T>C (n.6346-7T>C)
c.9064-7T>C (n.9064-7T>C)
c.9061-7T>C (n.9061-7T>C)
c.8983-7T>C (n.8983-7T>C)
c.8968-7T>C (n.8968-7T>C)
c.2182-7T>C (n.2182-7T>C)
c.2161-7T>C (n.2161-7T>C)
n.9059-7T>C
gnomAD v4
5g.90712280_90712287delinsTGACCAGACA1562867511ADGRV1c.9043-7_9043delinsTGACCAGA
c.265+36071_265+36078delinsTGACCAGA (n.265+36071_265+36078delinsTGACCAGA)
n.4502-7_4502delinsTGACCAGA
c.2850-7_2850delinsTGACCAGA
n.2187-7_2187delinsTGACCAGA
c.3772-7_3772delinsTGACCAGA
c.1740-7_1740delinsTGACCAGA
n.9056-7_9056delinsTGACCAGA
c.9040-7_9040delinsTGACCAGA
c.8962-7_8962delinsTGACCAGA
c.6346-7_6346delinsTGACCAGA
c.9064-7_9064delinsTGACCAGA
c.9061-7_9061delinsTGACCAGA
c.8983-7_8983delinsTGACCAGA
c.8968-7_8968delinsTGACCAGA
c.2182-7_2182delinsTGACCAGA
c.2161-7_2161delinsTGACCAGA
n.9059-7_9059delinsTGACCAGA
5g.90712281G>ACA560900360ADGRV1c.9043-6G>A (n.9043-6G>A)
c.265+36072G>A (n.265+36072G>A)
n.4502-6G>A
c.2850-6G>A
n.2187-6G>A
c.3772-6G>A
c.1740-6G>A
n.9056-6G>A
c.9040-6G>A (n.9040-6G>A)
c.8962-6G>A (n.8962-6G>A)
c.6346-6G>A (n.6346-6G>A)
c.9064-6G>A (n.9064-6G>A)
c.9061-6G>A (n.9061-6G>A)
c.8983-6G>A (n.8983-6G>A)
c.8968-6G>A (n.8968-6G>A)
c.2182-6G>A (n.2182-6G>A)
c.2161-6G>A (n.2161-6G>A)
n.9059-6G>A
dbSNP gnomAD v2 gnomAD v4
5g.90712281G=CA1562867512ADGRV1c.9043-6G= (n.9043-6G=)
c.265+36072G= (n.265+36072G=)
n.4502-6G=
c.2850-6G=
n.2187-6G=
c.3772-6G=
c.1740-6G=
n.9056-6G=
c.9040-6G= (n.9040-6G=)
c.8962-6G= (n.8962-6G=)
c.6346-6G= (n.6346-6G=)
c.9064-6G= (n.9064-6G=)
c.9061-6G= (n.9061-6G=)
c.8983-6G= (n.8983-6G=)
c.8968-6G= (n.8968-6G=)
c.2182-6G= (n.2182-6G=)
c.2161-6G= (n.2161-6G=)
n.9059-6G=
5g.90712281G>TCA2578359587ADGRV1c.9043-6G>T (n.9043-6G>T)
c.265+36072G>T (n.265+36072G>T)
n.4502-6G>T
c.2850-6G>T
n.2187-6G>T
c.3772-6G>T
c.1740-6G>T
n.9056-6G>T
c.9040-6G>T (n.9040-6G>T)
c.8962-6G>T (n.8962-6G>T)
c.6346-6G>T (n.6346-6G>T)
c.9064-6G>T (n.9064-6G>T)
c.9061-6G>T (n.9061-6G>T)
c.8983-6G>T (n.8983-6G>T)
c.8968-6G>T (n.8968-6G>T)
c.2182-6G>T (n.2182-6G>T)
c.2161-6G>T (n.2161-6G>T)
n.9059-6G>T
gnomAD v4
5g.90712281_90712287delCA560900359ADGRV1c.9043-6_9043del
c.265+36072_265+36078del (n.265+36072_265+36078del)
n.4502-6_4502del
c.2850-6_2850del
n.2187-6_2187del
c.3772-6_3772del
c.1740-6_1740del
n.9056-6_9056del
c.9040-6_9040del
c.8962-6_8962del
c.6346-6_6346del
c.9064-6_9064del
c.9061-6_9061del
c.8983-6_8983del
c.8968-6_8968del
c.2182-6_2182del
c.2161-6_2161del
n.9059-6_9059del
dbSNP gnomAD v2 gnomAD v4
5g.90712283_90712287delCA2539386867ADGRV1c.9043-4_9043del
c.265+36074_265+36078del (n.265+36074_265+36078del)
n.4502-4_4502del
c.2850-4_2850del
n.2187-4_2187del
c.3772-4_3772del
c.1740-4_1740del
n.9056-4_9056del
c.9040-4_9040del
c.8962-4_8962del
c.6346-4_6346del
c.9064-4_9064del
c.9061-4_9061del
c.8983-4_8983del
c.8968-4_8968del
c.2182-4_2182del
c.2161-4_2161del
n.9059-4_9059del
5g.90712282A>TCA2674570002ADGRV1c.9043-5A>T (n.9043-5A>T)
c.265+36073A>T (n.265+36073A>T)
n.4502-5A>T
c.2850-5A>T
n.2187-5A>T
c.3772-5A>T
c.1740-5A>T
n.9056-5A>T
c.9040-5A>T (n.9040-5A>T)
c.8962-5A>T (n.8962-5A>T)
c.6346-5A>T (n.6346-5A>T)
c.9064-5A>T (n.9064-5A>T)
c.9061-5A>T (n.9061-5A>T)
c.8983-5A>T (n.8983-5A>T)
c.8968-5A>T (n.8968-5A>T)
c.2182-5A>T (n.2182-5A>T)
c.2161-5A>T (n.2161-5A>T)
n.9059-5A>T
gnomAD v4
5g.90712283C>ACA122804725ADGRV1c.9043-4C>A (n.9043-4C>A)
c.265+36074C>A (n.265+36074C>A)
n.4502-4C>A
c.2850-4C>A
n.2187-4C>A
c.3772-4C>A
c.1740-4C>A
n.9056-4C>A
c.9040-4C>A (n.9040-4C>A)
c.8962-4C>A (n.8962-4C>A)
c.6346-4C>A (n.6346-4C>A)
c.9064-4C>A (n.9064-4C>A)
c.9061-4C>A (n.9061-4C>A)
c.8983-4C>A (n.8983-4C>A)
c.8968-4C>A (n.8968-4C>A)
c.2182-4C>A (n.2182-4C>A)
c.2161-4C>A (n.2161-4C>A)
n.9059-4C>A
dbSNP gnomAD v4
5g.90712283C=CA1562867513ADGRV1c.9043-4C= (n.9043-4C=)
c.265+36074C= (n.265+36074C=)
n.4502-4C=
c.2850-4C=
n.2187-4C=
c.3772-4C=
c.1740-4C=
n.9056-4C=
c.9040-4C= (n.9040-4C=)
c.8962-4C= (n.8962-4C=)
c.6346-4C= (n.6346-4C=)
c.9064-4C= (n.9064-4C=)
c.9061-4C= (n.9061-4C=)
c.8983-4C= (n.8983-4C=)
c.8968-4C= (n.8968-4C=)
c.2182-4C= (n.2182-4C=)
c.2161-4C= (n.2161-4C=)
n.9059-4C=
5g.90712283C>TCA3340435ADGRV1c.9043-4C>T (n.9043-4C>T)
c.265+36074C>T (n.265+36074C>T)
n.4502-4C>T
c.2850-4C>T
n.2187-4C>T
c.3772-4C>T
c.1740-4C>T
n.9056-4C>T
c.9040-4C>T (n.9040-4C>T)
c.8962-4C>T (n.8962-4C>T)
c.6346-4C>T (n.6346-4C>T)
c.9064-4C>T (n.9064-4C>T)
c.9061-4C>T (n.9061-4C>T)
c.8983-4C>T (n.8983-4C>T)
c.8968-4C>T (n.8968-4C>T)
c.2182-4C>T (n.2182-4C>T)
c.2161-4C>T (n.2161-4C>T)
n.9059-4C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90712284C>ACA2674570003ADGRV1c.9043-3C>A (n.9043-3C>A)
c.265+36075C>A (n.265+36075C>A)
n.4502-3C>A
c.2850-3C>A
n.2187-3C>A
c.3772-3C>A
c.1740-3C>A
n.9056-3C>A
c.9040-3C>A (n.9040-3C>A)
c.8962-3C>A (n.8962-3C>A)
c.6346-3C>A (n.6346-3C>A)
c.9064-3C>A (n.9064-3C>A)
c.9061-3C>A (n.9061-3C>A)
c.8983-3C>A (n.8983-3C>A)
c.8968-3C>A (n.8968-3C>A)
c.2182-3C>A (n.2182-3C>A)
c.2161-3C>A (n.2161-3C>A)
n.9059-3C>A
gnomAD v4
5g.90712284C=CA1562867514ADGRV1c.9043-3C= (n.9043-3C=)
c.265+36075C= (n.265+36075C=)
n.4502-3C=
c.2850-3C=
n.2187-3C=
c.3772-3C=
c.1740-3C=
n.9056-3C=
c.9040-3C= (n.9040-3C=)
c.8962-3C= (n.8962-3C=)
c.6346-3C= (n.6346-3C=)
c.9064-3C= (n.9064-3C=)
c.9061-3C= (n.9061-3C=)
c.8983-3C= (n.8983-3C=)
c.8968-3C= (n.8968-3C=)
c.2182-3C= (n.2182-3C=)
c.2161-3C= (n.2161-3C=)
n.9059-3C=
5g.90712284C>TCA1078668612ADGRV1c.9043-3C>T (n.9043-3C>T)
c.265+36075C>T (n.265+36075C>T)
n.4502-3C>T
c.2850-3C>T
n.2187-3C>T
c.3772-3C>T
c.1740-3C>T
n.9056-3C>T
c.9040-3C>T (n.9040-3C>T)
c.8962-3C>T (n.8962-3C>T)
c.6346-3C>T (n.6346-3C>T)
c.9064-3C>T (n.9064-3C>T)
c.9061-3C>T (n.9061-3C>T)
c.8983-3C>T (n.8983-3C>T)
c.8968-3C>T (n.8968-3C>T)
c.2182-3C>T (n.2182-3C>T)
c.2161-3C>T (n.2161-3C>T)
n.9059-3C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.90712285delCA2578359588ADGRV1c.9043-2del (n.9043-2del)
c.265+36076del (n.265+36076del)
n.4502-2del
c.2850-2del
n.2187-2del
c.3772-2del
c.1740-2del
n.9056-2del
c.9040-2del (n.9040-2del)
c.8962-2del (n.8962-2del)
c.6346-2del (n.6346-2del)
c.9064-2del (n.9064-2del)
c.9061-2del (n.9061-2del)
c.8983-2del (n.8983-2del)
c.8968-2del (n.8968-2del)
c.2182-2del (n.2182-2del)
c.2161-2del (n.2161-2del)
n.9059-2del
5g.90712285A>CCA360396105ADGRV1c.9043-2A>C (n.9043-2A>C)
c.265+36076A>C (n.265+36076A>C)
n.4502-2A>C
c.2850-2A>C
n.2187-2A>C
c.3772-2A>C
c.1740-2A>C
n.9056-2A>C
c.9040-2A>C (n.9040-2A>C)
c.8962-2A>C (n.8962-2A>C)
c.6346-2A>C (n.6346-2A>C)
c.9064-2A>C (n.9064-2A>C)
c.9061-2A>C (n.9061-2A>C)
c.8983-2A>C (n.8983-2A>C)
c.8968-2A>C (n.8968-2A>C)
c.2182-2A>C (n.2182-2A>C)
c.2161-2A>C (n.2161-2A>C)
n.9059-2A>C
5g.90712285A>GCA360396106ADGRV1c.9043-2A>G (n.9043-2A>G)
c.265+36076A>G (n.265+36076A>G)
n.4502-2A>G
c.2850-2A>G
n.2187-2A>G
c.3772-2A>G
c.1740-2A>G
n.9056-2A>G
c.9040-2A>G (n.9040-2A>G)
c.8962-2A>G (n.8962-2A>G)
c.6346-2A>G (n.6346-2A>G)
c.9064-2A>G (n.9064-2A>G)
c.9061-2A>G (n.9061-2A>G)
c.8983-2A>G (n.8983-2A>G)
c.8968-2A>G (n.8968-2A>G)
c.2182-2A>G (n.2182-2A>G)
c.2161-2A>G (n.2161-2A>G)
n.9059-2A>G
gnomAD v4
5g.90712285A>TCA360396107ADGRV1c.9043-2A>T (n.9043-2A>T)
c.265+36076A>T (n.265+36076A>T)
n.4502-2A>T
c.2850-2A>T
n.2187-2A>T
c.3772-2A>T
c.1740-2A>T
n.9056-2A>T
c.9040-2A>T (n.9040-2A>T)
c.8962-2A>T (n.8962-2A>T)
c.6346-2A>T (n.6346-2A>T)
c.9064-2A>T (n.9064-2A>T)
c.9061-2A>T (n.9061-2A>T)
c.8983-2A>T (n.8983-2A>T)
c.8968-2A>T (n.8968-2A>T)
c.2182-2A>T (n.2182-2A>T)
c.2161-2A>T (n.2161-2A>T)
n.9059-2A>T
gnomAD v4
5g.90712286G>ACA360396108ADGRV1c.9043-1G>A (n.9043-1G>A)
c.265+36077G>A (n.265+36077G>A)
n.4502-1G>A
c.2850-1G>A
n.2187-1G>A
c.3772-1G>A
c.1740-1G>A
n.9056-1G>A
c.9040-1G>A (n.9040-1G>A)
c.8962-1G>A (n.8962-1G>A)
c.6346-1G>A (n.6346-1G>A)
c.9064-1G>A (n.9064-1G>A)
c.9061-1G>A (n.9061-1G>A)
c.8983-1G>A (n.8983-1G>A)
c.8968-1G>A (n.8968-1G>A)
c.2182-1G>A (n.2182-1G>A)
c.2161-1G>A (n.2161-1G>A)
n.9059-1G>A
dbSNP gnomAD v3 gnomAD v4
5g.90712286G>CCA360396109ADGRV1c.9043-1G>C (n.9043-1G>C)
c.265+36077G>C (n.265+36077G>C)
n.4502-1G>C
c.2850-1G>C
n.2187-1G>C
c.3772-1G>C
c.1740-1G>C
n.9056-1G>C
c.9040-1G>C (n.9040-1G>C)
c.8962-1G>C (n.8962-1G>C)
c.6346-1G>C (n.6346-1G>C)
c.9064-1G>C (n.9064-1G>C)
c.9061-1G>C (n.9061-1G>C)
c.8983-1G>C (n.8983-1G>C)
c.8968-1G>C (n.8968-1G>C)
c.2182-1G>C (n.2182-1G>C)
c.2161-1G>C (n.2161-1G>C)
n.9059-1G>C
5g.90712286G>TCA360396110ADGRV1c.9043-1G>T (n.9043-1G>T)
c.265+36077G>T (n.265+36077G>T)
n.4502-1G>T
c.2850-1G>T
n.2187-1G>T
c.3772-1G>T
c.1740-1G>T
n.9056-1G>T
c.9040-1G>T (n.9040-1G>T)
c.8962-1G>T (n.8962-1G>T)
c.6346-1G>T (n.6346-1G>T)
c.9064-1G>T (n.9064-1G>T)
c.9061-1G>T (n.9061-1G>T)
c.8983-1G>T (n.8983-1G>T)
c.8968-1G>T (n.8968-1G>T)
c.2182-1G>T (n.2182-1G>T)
c.2161-1G>T (n.2161-1G>T)
n.9059-1G>T
gnomAD v4
5g.90712287A=CA1562867515ADGRV1c.9043A= (p.Ile3015=)
c.265+36078A= (n.265+36078A=)
n.4502A=
c.2850A=
n.2187A=
c.3772A=
c.1740A=
n.9056A=
c.9040A= (p.Ile3014=)
c.8962A= (p.Ile2988=)
c.6346A= (p.Ile2116=)
c.9064A= (p.Ile3022=)
c.9061A= (p.Ile3021=)
c.8983A= (p.Ile2995=)
c.8968A= (p.Ile2990=)
c.2182A= (p.Ile728=)
c.2161A= (p.Ile721=)
n.9059A=
5g.90712287A>CCA360396111ADGRV1c.9043A>C (p.Ile3015Leu)
c.265+36078A>C (n.265+36078A>C)
n.4502A>C
c.2850A>C
n.2187A>C
c.3772A>C
c.1740A>C
n.9056A>C
c.9040A>C (p.Ile3014Leu)
c.8962A>C (p.Ile2988Leu)
c.6346A>C (p.Ile2116Leu)
c.9064A>C (p.Ile3022Leu)
c.9061A>C (p.Ile3021Leu)
c.8983A>C (p.Ile2995Leu)
c.8968A>C (p.Ile2990Leu)
c.2182A>C (p.Ile728Leu)
c.2161A>C (p.Ile721Leu)
n.9059A>C
5g.90712287A>GCA360396112ADGRV1c.9043A>G (p.Ile3015Val)
c.265+36078A>G (n.265+36078A>G)
n.4502A>G
c.2850A>G
n.2187A>G
c.3772A>G
c.1740A>G
n.9056A>G
c.9040A>G (p.Ile3014Val)
c.8962A>G (p.Ile2988Val)
c.6346A>G (p.Ile2116Val)
c.9064A>G (p.Ile3022Val)
c.9061A>G (p.Ile3021Val)
c.8983A>G (p.Ile2995Val)
c.8968A>G (p.Ile2990Val)
c.2182A>G (p.Ile728Val)
c.2161A>G (p.Ile721Val)
n.9059A>G
gnomAD v4
5g.90712287A>TCA360396113ADGRV1c.9043A>T (p.Ile3015Phe)
c.265+36078A>T (n.265+36078A>T)
n.4502A>T
c.2850A>T
n.2187A>T
c.3772A>T
c.1740A>T
n.9056A>T
c.9040A>T (p.Ile3014Phe)
c.8962A>T (p.Ile2988Phe)
c.6346A>T (p.Ile2116Phe)
c.9064A>T (p.Ile3022Phe)
c.9061A>T (p.Ile3021Phe)
c.8983A>T (p.Ile2995Phe)
c.8968A>T (p.Ile2990Phe)
c.2182A>T (p.Ile728Phe)
c.2161A>T (p.Ile721Phe)
n.9059A>T
5g.90712288T>ACA360396116ADGRV1c.9044T>A (p.Ile3015Asn)
c.265+36079T>A (n.265+36079T>A)
n.4503T>A
c.2851T>A
n.2188T>A
c.3773T>A
c.1741T>A
n.9057T>A
c.9041T>A (p.Ile3014Asn)
c.8963T>A (p.Ile2988Asn)
c.6347T>A (p.Ile2116Asn)
c.9065T>A (p.Ile3022Asn)
c.9062T>A (p.Ile3021Asn)
c.8984T>A (p.Ile2995Asn)
c.8969T>A (p.Ile2990Asn)
c.2183T>A (p.Ile728Asn)
c.2162T>A (p.Ile721Asn)
n.9060T>A
5g.90712288T>CCA360396115ADGRV1c.9044T>C (p.Ile3015Thr)
c.265+36079T>C (n.265+36079T>C)
n.4503T>C
c.2851T>C
n.2188T>C
c.3773T>C
c.1741T>C
n.9057T>C
c.9041T>C (p.Ile3014Thr)
c.8963T>C (p.Ile2988Thr)
c.6347T>C (p.Ile2116Thr)
c.9065T>C (p.Ile3022Thr)
c.9062T>C (p.Ile3021Thr)
c.8984T>C (p.Ile2995Thr)
c.8969T>C (p.Ile2990Thr)
c.2183T>C (p.Ile728Thr)
c.2162T>C (p.Ile721Thr)
n.9060T>C
5g.90712288T>GCA360396114ADGRV1c.9044T>G (p.Ile3015Ser)
c.265+36079T>G (n.265+36079T>G)
n.4503T>G
c.2851T>G
n.2188T>G
c.3773T>G
c.1741T>G
n.9057T>G
c.9041T>G (p.Ile3014Ser)
c.8963T>G (p.Ile2988Ser)
c.6347T>G (p.Ile2116Ser)
c.9065T>G (p.Ile3022Ser)
c.9062T>G (p.Ile3021Ser)
c.8984T>G (p.Ile2995Ser)
c.8969T>G (p.Ile2990Ser)
c.2183T>G (p.Ile728Ser)
c.2162T>G (p.Ile721Ser)
n.9060T>G
5g.90712289_90712290insTTTTTTTCA560900361ADGRV1c.9045_9046insTTTTTTT (p.Leu3016PhefsTer7)
c.265+36080_265+36081insTTTTTTT (n.265+36080_265+36081insTTTTTTT)
n.4504_4505insTTTTTTT
c.2852_2853insTTTTTTT
n.2189_2190insTTTTTTT
c.3774_3775insTTTTTTT
c.1742_1743insTTTTTTT
n.9058_9059insTTTTTTT
c.9042_9043insTTTTTTT (p.Leu3015PhefsTer7)
c.8964_8965insTTTTTTT (p.Leu2989PhefsTer7)
c.6348_6349insTTTTTTT (p.Leu2117PhefsTer7)
c.9066_9067insTTTTTTT (p.Leu3023PhefsTer7)
c.9063_9064insTTTTTTT (p.Leu3022PhefsTer7)
c.8985_8986insTTTTTTT (p.Leu2996PhefsTer7)
c.8970_8971insTTTTTTT (p.Leu2991PhefsTer7)
c.2184_2185insTTTTTTT (p.Leu729PhefsTer7)
c.2163_2164insTTTTTTT (p.Leu722PhefsTer7)
n.9061_9062insTTTTTTT
dbSNP gnomAD v2
5g.90712289T>ACA445411713ADGRV1c.9045T>A (p.Ile3015=)
c.265+36080T>A (n.265+36080T>A)
n.4504T>A
c.2852T>A
n.2189T>A
c.3774T>A
c.1742T>A
n.9058T>A
c.9042T>A (p.Ile3014=)
c.8964T>A (p.Ile2988=)
c.6348T>A (p.Ile2116=)
c.9066T>A (p.Ile3022=)
c.9063T>A (p.Ile3021=)
c.8985T>A (p.Ile2995=)
c.8970T>A (p.Ile2990=)
c.2184T>A (p.Ile728=)
c.2163T>A (p.Ile721=)
n.9061T>A
5g.90712289T>CCA445411715ADGRV1c.9045T>C (p.Ile3015=)
c.265+36080T>C (n.265+36080T>C)
n.4504T>C
c.2852T>C
n.2189T>C
c.3774T>C
c.1742T>C
n.9058T>C
c.9042T>C (p.Ile3014=)
c.8964T>C (p.Ile2988=)
c.6348T>C (p.Ile2116=)
c.9066T>C (p.Ile3022=)
c.9063T>C (p.Ile3021=)
c.8985T>C (p.Ile2995=)
c.8970T>C (p.Ile2990=)
c.2184T>C (p.Ile728=)
c.2163T>C (p.Ile721=)
n.9061T>C
gnomAD v4
5g.90712289T>GCA360396117ADGRV1c.9045T>G (p.Ile3015Met)
c.265+36080T>G (n.265+36080T>G)
n.4504T>G
c.2852T>G
n.2189T>G
c.3774T>G
c.1742T>G
n.9058T>G
c.9042T>G (p.Ile3014Met)
c.8964T>G (p.Ile2988Met)
c.6348T>G (p.Ile2116Met)
c.9066T>G (p.Ile3022Met)
c.9063T>G (p.Ile3021Met)
c.8985T>G (p.Ile2995Met)
c.8970T>G (p.Ile2990Met)
c.2184T>G (p.Ile728Met)
c.2163T>G (p.Ile721Met)
n.9061T>G
5g.90712290C>ACA360396118ADGRV1c.9046C>A (p.Leu3016Ile)
c.265+36081C>A (n.265+36081C>A)
n.4505C>A
c.2853C>A
n.2190C>A
c.3775C>A
c.1743C>A
n.9059C>A
c.9043C>A (p.Leu3015Ile)
c.8965C>A (p.Leu2989Ile)
c.6349C>A (p.Leu2117Ile)
c.9067C>A (p.Leu3023Ile)
c.9064C>A (p.Leu3022Ile)
c.8986C>A (p.Leu2996Ile)
c.8971C>A (p.Leu2991Ile)
c.2185C>A (p.Leu729Ile)
c.2164C>A (p.Leu722Ile)
n.9062C>A
gnomAD v4
5g.90712290C=CA1562867516ADGRV1c.9046C= (p.Leu3016=)
c.265+36081C= (n.265+36081C=)
n.4505C=
c.2853C=
n.2190C=
c.3775C=
c.1743C=
n.9059C=
c.9043C= (p.Leu3015=)
c.8965C= (p.Leu2989=)
c.6349C= (p.Leu2117=)
c.9067C= (p.Leu3023=)
c.9064C= (p.Leu3022=)
c.8986C= (p.Leu2996=)
c.8971C= (p.Leu2991=)
c.2185C= (p.Leu729=)
c.2164C= (p.Leu722=)
n.9062C=
5g.90712290C>GCA360396119ADGRV1c.9046C>G (p.Leu3016Val)
c.265+36081C>G (n.265+36081C>G)
n.4505C>G
c.2853C>G
n.2190C>G
c.3775C>G
c.1743C>G
n.9059C>G
c.9043C>G (p.Leu3015Val)
c.8965C>G (p.Leu2989Val)
c.6349C>G (p.Leu2117Val)
c.9067C>G (p.Leu3023Val)
c.9064C>G (p.Leu3022Val)
c.8986C>G (p.Leu2996Val)
c.8971C>G (p.Leu2991Val)
c.2185C>G (p.Leu729Val)
c.2164C>G (p.Leu722Val)
n.9062C>G
5g.90712290C>TCA360396120ADGRV1c.9046C>T (p.Leu3016Phe)
c.265+36081C>T (n.265+36081C>T)
n.4505C>T
c.2853C>T
n.2190C>T
c.3775C>T
c.1743C>T
n.9059C>T
c.9043C>T (p.Leu3015Phe)
c.8965C>T (p.Leu2989Phe)
c.6349C>T (p.Leu2117Phe)
c.9067C>T (p.Leu3023Phe)
c.9064C>T (p.Leu3022Phe)
c.8986C>T (p.Leu2996Phe)
c.8971C>T (p.Leu2991Phe)
c.2185C>T (p.Leu729Phe)
c.2164C>T (p.Leu722Phe)
n.9062C>T
dbSNP gnomAD v2 gnomAD v4
5g.90712291T>ACA360396121ADGRV1c.9047T>A (p.Leu3016His)
c.265+36082T>A (n.265+36082T>A)
n.4506T>A
c.2854T>A
n.2191T>A
c.3776T>A
c.1744T>A
n.9060T>A
c.9044T>A (p.Leu3015His)
c.8966T>A (p.Leu2989His)
c.6350T>A (p.Leu2117His)
c.9068T>A (p.Leu3023His)
c.9065T>A (p.Leu3022His)
c.8987T>A (p.Leu2996His)
c.8972T>A (p.Leu2991His)
c.2186T>A (p.Leu729His)
c.2165T>A (p.Leu722His)
n.9063T>A
5g.90712291T>CCA360396122ADGRV1c.9047T>C (p.Leu3016Pro)
c.265+36082T>C (n.265+36082T>C)
n.4506T>C
c.2854T>C
n.2191T>C
c.3776T>C
c.1744T>C
n.9060T>C
c.9044T>C (p.Leu3015Pro)
c.8966T>C (p.Leu2989Pro)
c.6350T>C (p.Leu2117Pro)
c.9068T>C (p.Leu3023Pro)
c.9065T>C (p.Leu3022Pro)
c.8987T>C (p.Leu2996Pro)
c.8972T>C (p.Leu2991Pro)
c.2186T>C (p.Leu729Pro)
c.2165T>C (p.Leu722Pro)
n.9063T>C
gnomAD v4
5g.90712291T>GCA360396123ADGRV1c.9047T>G (p.Leu3016Arg)
c.265+36082T>G (n.265+36082T>G)
n.4506T>G
c.2854T>G
n.2191T>G
c.3776T>G
c.1744T>G
n.9060T>G
c.9044T>G (p.Leu3015Arg)
c.8966T>G (p.Leu2989Arg)
c.6350T>G (p.Leu2117Arg)
c.9068T>G (p.Leu3023Arg)
c.9065T>G (p.Leu3022Arg)
c.8987T>G (p.Leu2996Arg)
c.8972T>G (p.Leu2991Arg)
c.2186T>G (p.Leu729Arg)
c.2165T>G (p.Leu722Arg)
n.9063T>G
5g.90712292T>ACA445411726ADGRV1c.9048T>A (p.Leu3016=)
c.265+36083T>A (n.265+36083T>A)
n.4507T>A
c.2855T>A
n.2192T>A
c.3777T>A
c.1745T>A
n.9061T>A
c.9045T>A (p.Leu3015=)
c.8967T>A (p.Leu2989=)
c.6351T>A (p.Leu2117=)
c.9069T>A (p.Leu3023=)
c.9066T>A (p.Leu3022=)
c.8988T>A (p.Leu2996=)
c.8973T>A (p.Leu2991=)
c.2187T>A (p.Leu729=)
c.2166T>A (p.Leu722=)
n.9064T>A
gnomAD v4
5g.90712292T>CCA445411723ADGRV1c.9048T>C (p.Leu3016=)
c.265+36083T>C (n.265+36083T>C)
n.4507T>C
c.2855T>C
n.2192T>C
c.3777T>C
c.1745T>C
n.9061T>C
c.9045T>C (p.Leu3015=)
c.8967T>C (p.Leu2989=)
c.6351T>C (p.Leu2117=)
c.9069T>C (p.Leu3023=)
c.9066T>C (p.Leu3022=)
c.8988T>C (p.Leu2996=)
c.8973T>C (p.Leu2991=)
c.2187T>C (p.Leu729=)
c.2166T>C (p.Leu722=)
n.9064T>C
gnomAD v4
5g.90712292T>GCA445411725ADGRV1c.9048T>G (p.Leu3016=)
c.265+36083T>G (n.265+36083T>G)
n.4507T>G
c.2855T>G
n.2192T>G
c.3777T>G
c.1745T>G
n.9061T>G
c.9045T>G (p.Leu3015=)
c.8967T>G (p.Leu2989=)
c.6351T>G (p.Leu2117=)
c.9069T>G (p.Leu3023=)
c.9066T>G (p.Leu3022=)
c.8988T>G (p.Leu2996=)
c.8973T>G (p.Leu2991=)
c.2187T>G (p.Leu729=)
c.2166T>G (p.Leu722=)
n.9064T>G
5g.90712293C>ACA360396124ADGRV1c.9049C>A (p.His3017Asn)
c.265+36084C>A (n.265+36084C>A)
n.4508C>A
c.2856C>A
n.2193C>A
c.3778C>A
c.1746C>A
n.9062C>A
c.9046C>A (p.His3016Asn)
c.8968C>A (p.His2990Asn)
c.6352C>A (p.His2118Asn)
c.9070C>A (p.His3024Asn)
c.9067C>A (p.His3023Asn)
c.8989C>A (p.His2997Asn)
c.8974C>A (p.His2992Asn)
c.2188C>A (p.His730Asn)
c.2167C>A (p.His723Asn)
n.9065C>A
gnomAD v4
5g.90712293C=CA1562867517ADGRV1c.9049C= (p.His3017=)
c.265+36084C= (n.265+36084C=)
n.4508C=
c.2856C=
n.2193C=
c.3778C=
c.1746C=
n.9062C=
c.9046C= (p.His3016=)
c.8968C= (p.His2990=)
c.6352C= (p.His2118=)
c.9070C= (p.His3024=)
c.9067C= (p.His3023=)
c.8989C= (p.His2997=)
c.8974C= (p.His2992=)
c.2188C= (p.His730=)
c.2167C= (p.His723=)
n.9065C=
5g.90712293C>GCA360396125ADGRV1c.9049C>G (p.His3017Asp)
c.265+36084C>G (n.265+36084C>G)
n.4508C>G
c.2856C>G
n.2193C>G
c.3778C>G
c.1746C>G
n.9062C>G
c.9046C>G (p.His3016Asp)
c.8968C>G (p.His2990Asp)
c.6352C>G (p.His2118Asp)
c.9070C>G (p.His3024Asp)
c.9067C>G (p.His3023Asp)
c.8989C>G (p.His2997Asp)
c.8974C>G (p.His2992Asp)
c.2188C>G (p.His730Asp)
c.2167C>G (p.His723Asp)
n.9065C>G
5g.90712293C>TCA122804730ADGRV1c.9049C>T (p.His3017Tyr)
c.265+36084C>T (n.265+36084C>T)
n.4508C>T
c.2856C>T
n.2193C>T
c.3778C>T
c.1746C>T
n.9062C>T
c.9046C>T (p.His3016Tyr)
c.8968C>T (p.His2990Tyr)
c.6352C>T (p.His2118Tyr)
c.9070C>T (p.His3024Tyr)
c.9067C>T (p.His3023Tyr)
c.8989C>T (p.His2997Tyr)
c.8974C>T (p.His2992Tyr)
c.2188C>T (p.His730Tyr)
c.2167C>T (p.His723Tyr)
n.9065C>T
dbSNP COSMIC
5g.90712294A=CA1562867518ADGRV1c.9050A= (p.His3017=)
c.265+36085A= (n.265+36085A=)
n.4509A=
c.2857A=
n.2194A=
c.3779A=
c.1747A=
n.9063A=
c.9047A= (p.His3016=)
c.8969A= (p.His2990=)
c.6353A= (p.His2118=)
c.9071A= (p.His3024=)
c.9068A= (p.His3023=)
c.8990A= (p.His2997=)
c.8975A= (p.His2992=)
c.2189A= (p.His730=)
c.2168A= (p.His723=)
n.9066A=
5g.90712294A>CCA360396126ADGRV1c.9050A>C (p.His3017Pro)
c.265+36085A>C (n.265+36085A>C)
n.4509A>C
c.2857A>C
n.2194A>C
c.3779A>C
c.1747A>C
n.9063A>C
c.9047A>C (p.His3016Pro)
c.8969A>C (p.His2990Pro)
c.6353A>C (p.His2118Pro)
c.9071A>C (p.His3024Pro)
c.9068A>C (p.His3023Pro)
c.8990A>C (p.His2997Pro)
c.8975A>C (p.His2992Pro)
c.2189A>C (p.His730Pro)
c.2168A>C (p.His723Pro)
n.9066A>C
5g.90712294A>GCA360396127ADGRV1c.9050A>G (p.His3017Arg)
c.265+36085A>G (n.265+36085A>G)
n.4509A>G
c.2857A>G
n.2194A>G
c.3779A>G
c.1747A>G
n.9063A>G
c.9047A>G (p.His3016Arg)
c.8969A>G (p.His2990Arg)
c.6353A>G (p.His2118Arg)
c.9071A>G (p.His3024Arg)
c.9068A>G (p.His3023Arg)
c.8990A>G (p.His2997Arg)
c.8975A>G (p.His2992Arg)
c.2189A>G (p.His730Arg)
c.2168A>G (p.His723Arg)
n.9066A>G
gnomAD v4
5g.90712294A>TCA360396128ADGRV1c.9050A>T (p.His3017Leu)
c.265+36085A>T (n.265+36085A>T)
n.4509A>T
c.2857A>T
n.2194A>T
c.3779A>T
c.1747A>T
n.9063A>T
c.9047A>T (p.His3016Leu)
c.8969A>T (p.His2990Leu)
c.6353A>T (p.His2118Leu)
c.9071A>T (p.His3024Leu)
c.9068A>T (p.His3023Leu)
c.8990A>T (p.His2997Leu)
c.8975A>T (p.His2992Leu)
c.2189A>T (p.His730Leu)
c.2168A>T (p.His723Leu)
n.9066A>T
5g.90712295T>ACA360396129ADGRV1c.9051T>A (p.His3017Gln)
c.265+36086T>A (n.265+36086T>A)
n.4510T>A
c.2858T>A
n.2195T>A
c.3780T>A
c.1748T>A
n.9064T>A
c.9048T>A (p.His3016Gln)
c.8970T>A (p.His2990Gln)
c.6354T>A (p.His2118Gln)
c.9072T>A (p.His3024Gln)
c.9069T>A (p.His3023Gln)
c.8991T>A (p.His2997Gln)
c.8976T>A (p.His2992Gln)
c.2190T>A (p.His730Gln)
c.2169T>A (p.His723Gln)
n.9067T>A
gnomAD v4
5g.90712295T>CCA445411730ADGRV1c.9051T>C (p.His3017=)
c.265+36086T>C (n.265+36086T>C)
n.4510T>C
c.2858T>C
n.2195T>C
c.3780T>C
c.1748T>C
n.9064T>C
c.9048T>C (p.His3016=)
c.8970T>C (p.His2990=)
c.6354T>C (p.His2118=)
c.9072T>C (p.His3024=)
c.9069T>C (p.His3023=)
c.8991T>C (p.His2997=)
c.8976T>C (p.His2992=)
c.2190T>C (p.His730=)
c.2169T>C (p.His723=)
n.9067T>C
dbSNP gnomAD v2 gnomAD v4
5g.90712295T>GCA360396130ADGRV1c.9051T>G (p.His3017Gln)
c.265+36086T>G (n.265+36086T>G)
n.4510T>G
c.2858T>G
n.2195T>G
c.3780T>G
c.1748T>G
n.9064T>G
c.9048T>G (p.His3016Gln)
c.8970T>G (p.His2990Gln)
c.6354T>G (p.His2118Gln)
c.9072T>G (p.His3024Gln)
c.9069T>G (p.His3023Gln)
c.8991T>G (p.His2997Gln)
c.8976T>G (p.His2992Gln)
c.2190T>G (p.His730Gln)
c.2169T>G (p.His723Gln)
n.9067T>G
5g.90712295T=CA1562867519ADGRV1c.9051T= (p.His3017=)
c.265+36086T= (n.265+36086T=)
n.4510T=
c.2858T=
n.2195T=
c.3780T=
c.1748T=
n.9064T=
c.9048T= (p.His3016=)
c.8970T= (p.His2990=)
c.6354T= (p.His2118=)
c.9072T= (p.His3024=)
c.9069T= (p.His3023=)
c.8991T= (p.His2997=)
c.8976T= (p.His2992=)
c.2190T= (p.His730=)
c.2169T= (p.His723=)
n.9067T=
5g.90712298dupCA815351894ADGRV1c.9054dup (p.Ala3019CysfsTer2)
c.265+36089dup (n.265+36089dup)
n.4513dup
c.2861dup
n.2198dup
c.3783dup
c.1751dup
n.9067dup
c.9051dup (p.Ala3018CysfsTer2)
c.8973dup (p.Ala2992CysfsTer2)
c.6357dup (p.Ala2120CysfsTer2)
c.9075dup (p.Ala3026CysfsTer2)
c.9072dup (p.Ala3025CysfsTer2)
c.8994dup (p.Ala2999CysfsTer2)
c.8979dup (p.Ala2994CysfsTer2)
c.2193dup (p.Ala732CysfsTer2)
c.2172dup (p.Ala725CysfsTer2)
n.9070dup
dbSNP gnomAD v4
5g.90712296T>ACA360396131ADGRV1c.9052T>A (p.Phe3018Ile)
c.265+36087T>A (n.265+36087T>A)
n.4511T>A
c.2859T>A
n.2196T>A
c.3781T>A
c.1749T>A
n.9065T>A
c.9049T>A (p.Phe3017Ile)
c.8971T>A (p.Phe2991Ile)
c.6355T>A (p.Phe2119Ile)
c.9073T>A (p.Phe3025Ile)
c.9070T>A (p.Phe3024Ile)
c.8992T>A (p.Phe2998Ile)
c.8977T>A (p.Phe2993Ile)
c.2191T>A (p.Phe731Ile)
c.2170T>A (p.Phe724Ile)
n.9068T>A
dbSNP
5g.90712296T>CCA3340436ADGRV1c.9052T>C (p.Phe3018Leu)
c.265+36087T>C (n.265+36087T>C)
n.4511T>C
c.2859T>C
n.2196T>C
c.3781T>C
c.1749T>C
n.9065T>C
c.9049T>C (p.Phe3017Leu)
c.8971T>C (p.Phe2991Leu)
c.6355T>C (p.Phe2119Leu)
c.9073T>C (p.Phe3025Leu)
c.9070T>C (p.Phe3024Leu)
c.8992T>C (p.Phe2998Leu)
c.8977T>C (p.Phe2993Leu)
c.2191T>C (p.Phe731Leu)
c.2170T>C (p.Phe724Leu)
n.9068T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.90712296T>GCA360396132ADGRV1c.9052T>G (p.Phe3018Val)
c.265+36087T>G (n.265+36087T>G)
n.4511T>G
c.2859T>G
n.2196T>G
c.3781T>G
c.1749T>G
n.9065T>G
c.9049T>G (p.Phe3017Val)
c.8971T>G (p.Phe2991Val)
c.6355T>G (p.Phe2119Val)
c.9073T>G (p.Phe3025Val)
c.9070T>G (p.Phe3024Val)
c.8992T>G (p.Phe2998Val)
c.8977T>G (p.Phe2993Val)
c.2191T>G (p.Phe731Val)
c.2170T>G (p.Phe724Val)
n.9068T>G
5g.90712296T=CA1562867520ADGRV1c.9052T= (p.Phe3018=)
c.265+36087T= (n.265+36087T=)
n.4511T=
c.2859T=
n.2196T=
c.3781T=
c.1749T=
n.9065T=
c.9049T= (p.Phe3017=)
c.8971T= (p.Phe2991=)
c.6355T= (p.Phe2119=)
c.9073T= (p.Phe3025=)
c.9070T= (p.Phe3024=)
c.8992T= (p.Phe2998=)
c.8977T= (p.Phe2993=)
c.2191T= (p.Phe731=)
c.2170T= (p.Phe724=)
n.9068T=
5g.90712297T>ACA360396133ADGRV1c.9053T>A (p.Phe3018Tyr)
c.265+36088T>A (n.265+36088T>A)
n.4512T>A
c.2860T>A
n.2197T>A
c.3782T>A
c.1750T>A
n.9066T>A
c.9050T>A (p.Phe3017Tyr)
c.8972T>A (p.Phe2991Tyr)
c.6356T>A (p.Phe2119Tyr)
c.9074T>A (p.Phe3025Tyr)
c.9071T>A (p.Phe3024Tyr)
c.8993T>A (p.Phe2998Tyr)
c.8978T>A (p.Phe2993Tyr)
c.2192T>A (p.Phe731Tyr)
c.2171T>A (p.Phe724Tyr)
n.9069T>A
5g.90712297T>CCA360396134ADGRV1c.9053T>C (p.Phe3018Ser)
c.265+36088T>C (n.265+36088T>C)
n.4512T>C
c.2860T>C
n.2197T>C
c.3782T>C
c.1750T>C
n.9066T>C
c.9050T>C (p.Phe3017Ser)
c.8972T>C (p.Phe2991Ser)
c.6356T>C (p.Phe2119Ser)
c.9074T>C (p.Phe3025Ser)
c.9071T>C (p.Phe3024Ser)
c.8993T>C (p.Phe2998Ser)
c.8978T>C (p.Phe2993Ser)
c.2192T>C (p.Phe731Ser)
c.2171T>C (p.Phe724Ser)
n.9069T>C
5g.90712297T>GCA360396135ADGRV1c.9053T>G (p.Phe3018Cys)
c.265+36088T>G (n.265+36088T>G)
n.4512T>G
c.2860T>G
n.2197T>G
c.3782T>G
c.1750T>G
n.9066T>G
c.9050T>G (p.Phe3017Cys)
c.8972T>G (p.Phe2991Cys)
c.6356T>G (p.Phe2119Cys)
c.9074T>G (p.Phe3025Cys)
c.9071T>G (p.Phe3024Cys)
c.8993T>G (p.Phe2998Cys)
c.8978T>G (p.Phe2993Cys)
c.2192T>G (p.Phe731Cys)
c.2171T>G (p.Phe724Cys)
n.9069T>G
5g.90712298T>ACA360396136ADGRV1c.9054T>A (p.Phe3018Leu)
c.265+36089T>A (n.265+36089T>A)
n.4513T>A
c.2861T>A
n.2198T>A
c.3783T>A
c.1751T>A
n.9067T>A
c.9051T>A (p.Phe3017Leu)
c.8973T>A (p.Phe2991Leu)
c.6357T>A (p.Phe2119Leu)
c.9075T>A (p.Phe3025Leu)
c.9072T>A (p.Phe3024Leu)
c.8994T>A (p.Phe2998Leu)
c.8979T>A (p.Phe2993Leu)
c.2193T>A (p.Phe731Leu)
c.2172T>A (p.Phe724Leu)
n.9070T>A
5g.90712298T>CCA445411736ADGRV1c.9054T>C (p.Phe3018=)
c.265+36089T>C (n.265+36089T>C)
n.4513T>C
c.2861T>C
n.2198T>C
c.3783T>C
c.1751T>C
n.9067T>C
c.9051T>C (p.Phe3017=)
c.8973T>C (p.Phe2991=)
c.6357T>C (p.Phe2119=)
c.9075T>C (p.Phe3025=)
c.9072T>C (p.Phe3024=)
c.8994T>C (p.Phe2998=)
c.8979T>C (p.Phe2993=)
c.2193T>C (p.Phe731=)
c.2172T>C (p.Phe724=)
n.9070T>C
5g.90712298T>GCA3340437ADGRV1c.9054T>G (p.Phe3018Leu)
c.265+36089T>G (n.265+36089T>G)
n.4513T>G
c.2861T>G
n.2198T>G
c.3783T>G
c.1751T>G
n.9067T>G
c.9051T>G (p.Phe3017Leu)
c.8973T>G (p.Phe2991Leu)
c.6357T>G (p.Phe2119Leu)
c.9075T>G (p.Phe3025Leu)
c.9072T>G (p.Phe3024Leu)
c.8994T>G (p.Phe2998Leu)
c.8979T>G (p.Phe2993Leu)
c.2193T>G (p.Phe731Leu)
c.2172T>G (p.Phe724Leu)
n.9070T>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90712298T=CA1562867521ADGRV1c.9054T= (p.Phe3018=)
c.265+36089T= (n.265+36089T=)
n.4513T=
c.2861T=
n.2198T=
c.3783T=
c.1751T=
n.9067T=
c.9051T= (p.Phe3017=)
c.8973T= (p.Phe2991=)
c.6357T= (p.Phe2119=)
c.9075T= (p.Phe3025=)
c.9072T= (p.Phe3024=)
c.8994T= (p.Phe2998=)
c.8979T= (p.Phe2993=)
c.2193T= (p.Phe731=)
c.2172T= (p.Phe724=)
n.9070T=
5g.90712299G>ACA360396139ADGRV1c.9055G>A (p.Ala3019Thr)
c.265+36090G>A (n.265+36090G>A)
n.4514G>A
c.2862G>A
n.2199G>A
c.3784G>A
c.1752G>A
n.9068G>A
c.9052G>A (p.Ala3018Thr)
c.8974G>A (p.Ala2992Thr)
c.6358G>A (p.Ala2120Thr)
c.9076G>A (p.Ala3026Thr)
c.9073G>A (p.Ala3025Thr)
c.8995G>A (p.Ala2999Thr)
c.8980G>A (p.Ala2994Thr)
c.2194G>A (p.Ala732Thr)
c.2173G>A (p.Ala725Thr)
n.9071G>A
ClinVar dbSNP gnomAD v4
5g.90712299G>CCA360396138ADGRV1c.9055G>C (p.Ala3019Pro)
c.265+36090G>C (n.265+36090G>C)
n.4514G>C
c.2862G>C
n.2199G>C
c.3784G>C
c.1752G>C
n.9068G>C
c.9052G>C (p.Ala3018Pro)
c.8974G>C (p.Ala2992Pro)
c.6358G>C (p.Ala2120Pro)
c.9076G>C (p.Ala3026Pro)
c.9073G>C (p.Ala3025Pro)
c.8995G>C (p.Ala2999Pro)
c.8980G>C (p.Ala2994Pro)
c.2194G>C (p.Ala732Pro)
c.2173G>C (p.Ala725Pro)
n.9071G>C
gnomAD v4
5g.90712299G>TCA360396137ADGRV1c.9055G>T (p.Ala3019Ser)
c.265+36090G>T (n.265+36090G>T)
n.4514G>T
c.2862G>T
n.2199G>T
c.3784G>T
c.1752G>T
n.9068G>T
c.9052G>T (p.Ala3018Ser)
c.8974G>T (p.Ala2992Ser)
c.6358G>T (p.Ala2120Ser)
c.9076G>T (p.Ala3026Ser)
c.9073G>T (p.Ala3025Ser)
c.8995G>T (p.Ala2999Ser)
c.8980G>T (p.Ala2994Ser)
c.2194G>T (p.Ala732Ser)
c.2173G>T (p.Ala725Ser)
n.9071G>T
gnomAD v4
5g.90712300C>ACA360396140ADGRV1c.9056C>A (p.Ala3019Asp)
c.265+36091C>A (n.265+36091C>A)
n.4515C>A
c.2863C>A
n.2200C>A
c.3785C>A
c.1753C>A
n.9069C>A
c.9053C>A (p.Ala3018Asp)
c.8975C>A (p.Ala2992Asp)
c.6359C>A (p.Ala2120Asp)
c.9077C>A (p.Ala3026Asp)
c.9074C>A (p.Ala3025Asp)
c.8996C>A (p.Ala2999Asp)
c.8981C>A (p.Ala2994Asp)
c.2195C>A (p.Ala732Asp)
c.2174C>A (p.Ala725Asp)
n.9072C>A
gnomAD v4 COSMIC
5g.90712300C=CA1562867522ADGRV1c.9056C= (p.Ala3019=)
c.265+36091C= (n.265+36091C=)
n.4515C=
c.2863C=
n.2200C=
c.3785C=
c.1753C=
n.9069C=
c.9053C= (p.Ala3018=)
c.8975C= (p.Ala2992=)
c.6359C= (p.Ala2120=)
c.9077C= (p.Ala3026=)
c.9074C= (p.Ala3025=)
c.8996C= (p.Ala2999=)
c.8981C= (p.Ala2994=)
c.2195C= (p.Ala732=)
c.2174C= (p.Ala725=)
n.9072C=
5g.90712300C>GCA360396141ADGRV1c.9056C>G (p.Ala3019Gly)
c.265+36091C>G (n.265+36091C>G)
n.4515C>G
c.2863C>G
n.2200C>G
c.3785C>G
c.1753C>G
n.9069C>G
c.9053C>G (p.Ala3018Gly)
c.8975C>G (p.Ala2992Gly)
c.6359C>G (p.Ala2120Gly)
c.9077C>G (p.Ala3026Gly)
c.9074C>G (p.Ala3025Gly)
c.8996C>G (p.Ala2999Gly)
c.8981C>G (p.Ala2994Gly)
c.2195C>G (p.Ala732Gly)
c.2174C>G (p.Ala725Gly)
n.9072C>G
gnomAD v4
5g.90712300C>TCA122804739ADGRV1c.9056C>T (p.Ala3019Val)
c.265+36091C>T (n.265+36091C>T)
n.4515C>T
c.2863C>T
n.2200C>T
c.3785C>T
c.1753C>T
n.9069C>T
c.9053C>T (p.Ala3018Val)
c.8975C>T (p.Ala2992Val)
c.6359C>T (p.Ala2120Val)
c.9077C>T (p.Ala3026Val)
c.9074C>T (p.Ala3025Val)
c.8996C>T (p.Ala2999Val)
c.8981C>T (p.Ala2994Val)
c.2195C>T (p.Ala732Val)
c.2174C>T (p.Ala725Val)
n.9072C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.90712301T>ACA445411744ADGRV1c.9057T>A (p.Ala3019=)
c.265+36092T>A (n.265+36092T>A)
n.4516T>A
c.2864T>A
n.2201T>A
c.3786T>A
c.1754T>A
n.9070T>A
c.9054T>A (p.Ala3018=)
c.8976T>A (p.Ala2992=)
c.6360T>A (p.Ala2120=)
c.9078T>A (p.Ala3026=)
c.9075T>A (p.Ala3025=)
c.8997T>A (p.Ala2999=)
c.8982T>A (p.Ala2994=)
c.2196T>A (p.Ala732=)
c.2175T>A (p.Ala725=)
n.9073T>A
5g.90712301T>CCA445411745ADGRV1c.9057T>C (p.Ala3019=)
c.265+36092T>C (n.265+36092T>C)
n.4516T>C
c.2864T>C
n.2201T>C
c.3786T>C
c.1754T>C
n.9070T>C
c.9054T>C (p.Ala3018=)
c.8976T>C (p.Ala2992=)
c.6360T>C (p.Ala2120=)
c.9078T>C (p.Ala3026=)
c.9075T>C (p.Ala3025=)
c.8997T>C (p.Ala2999=)
c.8982T>C (p.Ala2994=)
c.2196T>C (p.Ala732=)
c.2175T>C (p.Ala725=)
n.9073T>C
dbSNP gnomAD v2 gnomAD v4
5g.90712301T>GCA445411746ADGRV1c.9057T>G (p.Ala3019=)
c.265+36092T>G (n.265+36092T>G)
n.4516T>G
c.2864T>G
n.2201T>G
c.3786T>G
c.1754T>G
n.9070T>G
c.9054T>G (p.Ala3018=)
c.8976T>G (p.Ala2992=)
c.6360T>G (p.Ala2120=)
c.9078T>G (p.Ala3026=)
c.9075T>G (p.Ala3025=)
c.8997T>G (p.Ala2999=)
c.8982T>G (p.Ala2994=)
c.2196T>G (p.Ala732=)
c.2175T>G (p.Ala725=)
n.9073T>G
5g.90712301T=CA1562867523ADGRV1c.9057T= (p.Ala3019=)
c.265+36092T= (n.265+36092T=)
n.4516T=
c.2864T=
n.2201T=
c.3786T=
c.1754T=
n.9070T=
c.9054T= (p.Ala3018=)
c.8976T= (p.Ala2992=)
c.6360T= (p.Ala2120=)
c.9078T= (p.Ala3026=)
c.9075T= (p.Ala3025=)
c.8997T= (p.Ala2999=)
c.8982T= (p.Ala2994=)
c.2196T= (p.Ala732=)
c.2175T= (p.Ala725=)
n.9073T=
5g.90712302delCA2674570022ADGRV1c.9058del (p.Asp3020MetfsTer11)
c.265+36093del (n.265+36093del)
n.4517del
c.2865del
n.2202del
c.3787del
c.1755del
n.9071del
c.9055del (p.Asp3019MetfsTer11)
c.8977del (p.Asp2993MetfsTer11)
c.6361del (p.Asp2121MetfsTer11)
c.9079del (p.Asp3027MetfsTer11)
c.9076del (p.Asp3026MetfsTer11)
c.8998del (p.Asp3000MetfsTer11)
c.8983del (p.Asp2995MetfsTer11)
c.2197del (p.Asp733MetfsTer11)
c.2176del (p.Asp726MetfsTer11)
n.9074del
gnomAD v4
5g.90712302G>ACA360396142ADGRV1c.9058G>A (p.Asp3020Asn)
c.265+36093G>A (n.265+36093G>A)
n.4517G>A
c.2865G>A
n.2202G>A
c.3787G>A
c.1755G>A
n.9071G>A
c.9055G>A (p.Asp3019Asn)
c.8977G>A (p.Asp2993Asn)
c.6361G>A (p.Asp2121Asn)
c.9079G>A (p.Asp3027Asn)
c.9076G>A (p.Asp3026Asn)
c.8998G>A (p.Asp3000Asn)
c.8983G>A (p.Asp2995Asn)
c.2197G>A (p.Asp733Asn)
c.2176G>A (p.Asp726Asn)
n.9074G>A
5g.90712302G>CCA360396143ADGRV1c.9058G>C (p.Asp3020His)
c.265+36093G>C (n.265+36093G>C)
n.4517G>C
c.2865G>C
n.2202G>C
c.3787G>C
c.1755G>C
n.9071G>C
c.9055G>C (p.Asp3019His)
c.8977G>C (p.Asp2993His)
c.6361G>C (p.Asp2121His)
c.9079G>C (p.Asp3027His)
c.9076G>C (p.Asp3026His)
c.8998G>C (p.Asp3000His)
c.8983G>C (p.Asp2995His)
c.2197G>C (p.Asp733His)
c.2176G>C (p.Asp726His)
n.9074G>C
5g.90712302G>TCA360396144ADGRV1c.9058G>T (p.Asp3020Tyr)
c.265+36093G>T (n.265+36093G>T)
n.4517G>T
c.2865G>T
n.2202G>T
c.3787G>T
c.1755G>T
n.9071G>T
c.9055G>T (p.Asp3019Tyr)
c.8977G>T (p.Asp2993Tyr)
c.6361G>T (p.Asp2121Tyr)
c.9079G>T (p.Asp3027Tyr)
c.9076G>T (p.Asp3026Tyr)
c.8998G>T (p.Asp3000Tyr)
c.8983G>T (p.Asp2995Tyr)
c.2197G>T (p.Asp733Tyr)
c.2176G>T (p.Asp726Tyr)
n.9074G>T
gnomAD v4
5g.90712303A=CA1562867524ADGRV1c.9059A= (p.Asp3020=)
c.265+36094A= (n.265+36094A=)
n.4518A=
c.2866A=
n.2203A=
c.3788A=
c.1756A=
n.9072A=
c.9056A= (p.Asp3019=)
c.8978A= (p.Asp2993=)
c.6362A= (p.Asp2121=)
c.9080A= (p.Asp3027=)
c.9077A= (p.Asp3026=)
c.8999A= (p.Asp3000=)
c.8984A= (p.Asp2995=)
c.2198A= (p.Asp733=)
c.2177A= (p.Asp726=)
n.9075A=
5g.90712303A>CCA360396147ADGRV1c.9059A>C (p.Asp3020Ala)
c.265+36094A>C (n.265+36094A>C)
n.4518A>C
c.2866A>C
n.2203A>C
c.3788A>C
c.1756A>C
n.9072A>C
c.9056A>C (p.Asp3019Ala)
c.8978A>C (p.Asp2993Ala)
c.6362A>C (p.Asp2121Ala)
c.9080A>C (p.Asp3027Ala)
c.9077A>C (p.Asp3026Ala)
c.8999A>C (p.Asp3000Ala)
c.8984A>C (p.Asp2995Ala)
c.2198A>C (p.Asp733Ala)
c.2177A>C (p.Asp726Ala)
n.9075A>C
5g.90712303A>GCA360396145ADGRV1c.9059A>G (p.Asp3020Gly)
c.265+36094A>G (n.265+36094A>G)
n.4518A>G
c.2866A>G
n.2203A>G
c.3788A>G
c.1756A>G
n.9072A>G
c.9056A>G (p.Asp3019Gly)
c.8978A>G (p.Asp2993Gly)
c.6362A>G (p.Asp2121Gly)
c.9080A>G (p.Asp3027Gly)
c.9077A>G (p.Asp3026Gly)
c.8999A>G (p.Asp3000Gly)
c.8984A>G (p.Asp2995Gly)
c.2198A>G (p.Asp733Gly)
c.2177A>G (p.Asp726Gly)
n.9075A>G
dbSNP
5g.90712303A>TCA360396146ADGRV1c.9059A>T (p.Asp3020Val)
c.265+36094A>T (n.265+36094A>T)
n.4518A>T
c.2866A>T
n.2203A>T
c.3788A>T
c.1756A>T
n.9072A>T
c.9056A>T (p.Asp3019Val)
c.8978A>T (p.Asp2993Val)
c.6362A>T (p.Asp2121Val)
c.9080A>T (p.Asp3027Val)
c.9077A>T (p.Asp3026Val)
c.8999A>T (p.Asp3000Val)
c.8984A>T (p.Asp2995Val)
c.2198A>T (p.Asp733Val)
c.2177A>T (p.Asp726Val)
n.9075A>T
gnomAD v4
5g.90712304T>ACA360396148ADGRV1c.9060T>A (p.Asp3020Glu)
c.265+36095T>A (n.265+36095T>A)
n.4519T>A
c.2867T>A
n.2204T>A
c.3789T>A
c.1757T>A
n.9073T>A
c.9057T>A (p.Asp3019Glu)
c.8979T>A (p.Asp2993Glu)
c.6363T>A (p.Asp2121Glu)
c.9081T>A (p.Asp3027Glu)
c.9078T>A (p.Asp3026Glu)
c.9000T>A (p.Asp3000Glu)
c.8985T>A (p.Asp2995Glu)
c.2199T>A (p.Asp733Glu)
c.2178T>A (p.Asp726Glu)
n.9076T>A
gnomAD v4
5g.90712304T>CCA3340438ADGRV1c.9060T>C (p.Asp3020=)
c.265+36095T>C (n.265+36095T>C)
n.4519T>C
c.2867T>C
n.2204T>C
c.3789T>C
c.1757T>C
n.9073T>C
c.9057T>C (p.Asp3019=)
c.8979T>C (p.Asp2993=)
c.6363T>C (p.Asp2121=)
c.9081T>C (p.Asp3027=)
c.9078T>C (p.Asp3026=)
c.9000T>C (p.Asp3000=)
c.8985T>C (p.Asp2995=)
c.2199T>C (p.Asp733=)
c.2178T>C (p.Asp726=)
n.9076T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90712304T>GCA360396149ADGRV1c.9060T>G (p.Asp3020Glu)
c.265+36095T>G (n.265+36095T>G)
n.4519T>G
c.2867T>G
n.2204T>G
c.3789T>G
c.1757T>G
n.9073T>G
c.9057T>G (p.Asp3019Glu)
c.8979T>G (p.Asp2993Glu)
c.6363T>G (p.Asp2121Glu)
c.9081T>G (p.Asp3027Glu)
c.9078T>G (p.Asp3026Glu)
c.9000T>G (p.Asp3000Glu)
c.8985T>G (p.Asp2995Glu)
c.2199T>G (p.Asp733Glu)
c.2178T>G (p.Asp726Glu)
n.9076T>G
5g.90712304T=CA1562867525ADGRV1c.9060T= (p.Asp3020=)
c.265+36095T= (n.265+36095T=)
n.4519T=
c.2867T=
n.2204T=
c.3789T=
c.1757T=
n.9073T=
c.9057T= (p.Asp3019=)
c.8979T= (p.Asp2993=)
c.6363T= (p.Asp2121=)
c.9081T= (p.Asp3027=)
c.9078T= (p.Asp3026=)
c.9000T= (p.Asp3000=)
c.8985T= (p.Asp2995=)
c.2199T= (p.Asp733=)
c.2178T= (p.Asp726=)
n.9076T=
5g.90712305G>ACA360396150ADGRV1c.9061G>A (p.Gly3021Arg)
c.265+36096G>A (n.265+36096G>A)
n.4520G>A
c.2868G>A
n.2205G>A
c.3790G>A
c.1758G>A
n.9074G>A
c.9058G>A (p.Gly3020Arg)
c.8980G>A (p.Gly2994Arg)
c.6364G>A (p.Gly2122Arg)
c.9082G>A (p.Gly3028Arg)
c.9079G>A (p.Gly3027Arg)
c.9001G>A (p.Gly3001Arg)
c.8986G>A (p.Gly2996Arg)
c.2200G>A (p.Gly734Arg)
c.2179G>A (p.Gly727Arg)
n.9077G>A
gnomAD v4
5g.90712305G>CCA360396151ADGRV1c.9061G>C (p.Gly3021Arg)
c.265+36096G>C (n.265+36096G>C)
n.4520G>C
c.2868G>C
n.2205G>C
c.3790G>C
c.1758G>C
n.9074G>C
c.9058G>C (p.Gly3020Arg)
c.8980G>C (p.Gly2994Arg)
c.6364G>C (p.Gly2122Arg)
c.9082G>C (p.Gly3028Arg)
c.9079G>C (p.Gly3027Arg)
c.9001G>C (p.Gly3001Arg)
c.8986G>C (p.Gly2996Arg)
c.2200G>C (p.Gly734Arg)
c.2179G>C (p.Gly727Arg)
n.9077G>C
5g.90712305G>TCA360396152ADGRV1c.9061G>T (p.Gly3021Ter)
c.265+36096G>T (n.265+36096G>T)
n.4520G>T
c.2868G>T
n.2205G>T
c.3790G>T
c.1758G>T
n.9074G>T
c.9058G>T (p.Gly3020Ter)
c.8980G>T (p.Gly2994Ter)
c.6364G>T (p.Gly2122Ter)
c.9082G>T (p.Gly3028Ter)
c.9079G>T (p.Gly3027Ter)
c.9001G>T (p.Gly3001Ter)
c.8986G>T (p.Gly2996Ter)
c.2200G>T (p.Gly734Ter)
c.2179G>T (p.Gly727Ter)
n.9077G>T
5g.90712306delCA2674570030ADGRV1c.9062del (p.Gly3021GlufsTer10)
c.265+36097del (n.265+36097del)
n.4521del
c.2869del
n.2206del
c.3791del
c.1759del
n.9075del
c.9059del (p.Gly3020GlufsTer10)
c.8981del (p.Gly2994GlufsTer10)
c.6365del (p.Gly2122GlufsTer10)
c.9083del (p.Gly3028GlufsTer10)
c.9080del (p.Gly3027GlufsTer10)
c.9002del (p.Gly3001GlufsTer10)
c.8987del (p.Gly2996GlufsTer10)
c.2201del (p.Gly734GlufsTer10)
c.2180del (p.Gly727GlufsTer10)
n.9078del
gnomAD v4
5g.90712306G>ACA360396153ADGRV1c.9062G>A (p.Gly3021Glu)
c.265+36097G>A (n.265+36097G>A)
n.4521G>A
c.2869G>A
n.2206G>A
c.3791G>A
c.1759G>A
n.9075G>A
c.9059G>A (p.Gly3020Glu)
c.8981G>A (p.Gly2994Glu)
c.6365G>A (p.Gly2122Glu)
c.9083G>A (p.Gly3028Glu)
c.9080G>A (p.Gly3027Glu)
c.9002G>A (p.Gly3001Glu)
c.8987G>A (p.Gly2996Glu)
c.2201G>A (p.Gly734Glu)
c.2180G>A (p.Gly727Glu)
n.9078G>A
5g.90712306G>CCA360396154ADGRV1c.9062G>C (p.Gly3021Ala)
c.265+36097G>C (n.265+36097G>C)
n.4521G>C
c.2869G>C
n.2206G>C
c.3791G>C
c.1759G>C
n.9075G>C
c.9059G>C (p.Gly3020Ala)
c.8981G>C (p.Gly2994Ala)
c.6365G>C (p.Gly2122Ala)
c.9083G>C (p.Gly3028Ala)
c.9080G>C (p.Gly3027Ala)
c.9002G>C (p.Gly3001Ala)
c.8987G>C (p.Gly2996Ala)
c.2201G>C (p.Gly734Ala)
c.2180G>C (p.Gly727Ala)
n.9078G>C
5g.90712306G>TCA360396155ADGRV1c.9062G>T (p.Gly3021Val)
c.265+36097G>T (n.265+36097G>T)
n.4521G>T
c.2869G>T
n.2206G>T
c.3791G>T
c.1759G>T
n.9075G>T
c.9059G>T (p.Gly3020Val)
c.8981G>T (p.Gly2994Val)
c.6365G>T (p.Gly2122Val)
c.9083G>T (p.Gly3028Val)
c.9080G>T (p.Gly3027Val)
c.9002G>T (p.Gly3001Val)
c.8987G>T (p.Gly2996Val)
c.2201G>T (p.Gly734Val)
c.2180G>T (p.Gly727Val)
n.9078G>T
gnomAD v4
5g.90712307A>CCA445411764ADGRV1c.9063A>C (p.Gly3021=)
c.265+36098A>C (n.265+36098A>C)
n.4522A>C
c.2870A>C
n.2207A>C
c.3792A>C
c.1760A>C
n.9076A>C
c.9060A>C (p.Gly3020=)
c.8982A>C (p.Gly2994=)
c.6366A>C (p.Gly2122=)
c.9084A>C (p.Gly3028=)
c.9081A>C (p.Gly3027=)
c.9003A>C (p.Gly3001=)
c.8988A>C (p.Gly2996=)
c.2202A>C (p.Gly734=)
c.2181A>C (p.Gly727=)
n.9079A>C
5g.90712307A>GCA445411766ADGRV1c.9063A>G (p.Gly3021=)
c.265+36098A>G (n.265+36098A>G)
n.4522A>G
c.2870A>G
n.2207A>G
c.3792A>G
c.1760A>G
n.9076A>G
c.9060A>G (p.Gly3020=)
c.8982A>G (p.Gly2994=)
c.6366A>G (p.Gly2122=)
c.9084A>G (p.Gly3028=)
c.9081A>G (p.Gly3027=)
c.9003A>G (p.Gly3001=)
c.8988A>G (p.Gly2996=)
c.2202A>G (p.Gly734=)
c.2181A>G (p.Gly727=)
n.9079A>G
gnomAD v4
5g.90712307A>TCA445411767ADGRV1c.9063A>T (p.Gly3021=)
c.265+36098A>T (n.265+36098A>T)
n.4522A>T
c.2870A>T
n.2207A>T
c.3792A>T
c.1760A>T
n.9076A>T
c.9060A>T (p.Gly3020=)
c.8982A>T (p.Gly2994=)
c.6366A>T (p.Gly2122=)
c.9084A>T (p.Gly3028=)
c.9081A>T (p.Gly3027=)
c.9003A>T (p.Gly3001=)
c.8988A>T (p.Gly2996=)
c.2202A>T (p.Gly734=)
c.2181A>T (p.Gly727=)
n.9079A>T
5g.90712308G>ACA360396156ADGRV1c.9064G>A (p.Glu3022Lys)
c.265+36099G>A (n.265+36099G>A)
n.4523G>A
c.2871G>A
n.2208G>A
c.3793G>A
c.1761G>A
n.9077G>A
c.9061G>A (p.Glu3021Lys)
c.8983G>A (p.Glu2995Lys)
c.6367G>A (p.Glu2123Lys)
c.9085G>A (p.Glu3029Lys)
c.9082G>A (p.Glu3028Lys)
c.9004G>A (p.Glu3002Lys)
c.8989G>A (p.Glu2997Lys)
c.2203G>A (p.Glu735Lys)
c.2182G>A (p.Glu728Lys)
n.9080G>A
5g.90712308G>CCA360396157ADGRV1c.9064G>C (p.Glu3022Gln)
c.265+36099G>C (n.265+36099G>C)
n.4523G>C
c.2871G>C
n.2208G>C
c.3793G>C
c.1761G>C
n.9077G>C
c.9061G>C (p.Glu3021Gln)
c.8983G>C (p.Glu2995Gln)
c.6367G>C (p.Glu2123Gln)
c.9085G>C (p.Glu3029Gln)
c.9082G>C (p.Glu3028Gln)
c.9004G>C (p.Glu3002Gln)
c.8989G>C (p.Glu2997Gln)
c.2203G>C (p.Glu735Gln)
c.2182G>C (p.Glu728Gln)
n.9080G>C
gnomAD v4
5g.90712308G>TCA360396158ADGRV1c.9064G>T (p.Glu3022Ter)
c.265+36099G>T (n.265+36099G>T)
n.4523G>T
c.2871G>T
n.2208G>T
c.3793G>T
c.1761G>T
n.9077G>T
c.9061G>T (p.Glu3021Ter)
c.8983G>T (p.Glu2995Ter)
c.6367G>T (p.Glu2123Ter)
c.9085G>T (p.Glu3029Ter)
c.9082G>T (p.Glu3028Ter)
c.9004G>T (p.Glu3002Ter)
c.8989G>T (p.Glu2997Ter)
c.2203G>T (p.Glu735Ter)
c.2182G>T (p.Glu728Ter)
n.9080G>T
gnomAD v4
5g.90712309A>CCA360396159ADGRV1c.9065A>C (p.Glu3022Ala)
c.265+36100A>C (n.265+36100A>C)
n.4524A>C
c.2872A>C
n.2209A>C
c.3794A>C
c.1762A>C
n.9078A>C
c.9062A>C (p.Glu3021Ala)
c.8984A>C (p.Glu2995Ala)
c.6368A>C (p.Glu2123Ala)
c.9086A>C (p.Glu3029Ala)
c.9083A>C (p.Glu3028Ala)
c.9005A>C (p.Glu3002Ala)
c.8990A>C (p.Glu2997Ala)
c.2204A>C (p.Glu735Ala)
c.2183A>C (p.Glu728Ala)
n.9081A>C
5g.90712309A>GCA360396161ADGRV1c.9065A>G (p.Glu3022Gly)
c.265+36100A>G (n.265+36100A>G)
n.4524A>G
c.2872A>G
n.2209A>G
c.3794A>G
c.1762A>G
n.9078A>G
c.9062A>G (p.Glu3021Gly)
c.8984A>G (p.Glu2995Gly)
c.6368A>G (p.Glu2123Gly)
c.9086A>G (p.Glu3029Gly)
c.9083A>G (p.Glu3028Gly)
c.9005A>G (p.Glu3002Gly)
c.8990A>G (p.Glu2997Gly)
c.2204A>G (p.Glu735Gly)
c.2183A>G (p.Glu728Gly)
n.9081A>G
gnomAD v4
5g.90712309A>TCA360396160ADGRV1c.9065A>T (p.Glu3022Val)
c.265+36100A>T (n.265+36100A>T)
n.4524A>T
c.2872A>T
n.2209A>T
c.3794A>T
c.1762A>T
n.9078A>T
c.9062A>T (p.Glu3021Val)
c.8984A>T (p.Glu2995Val)
c.6368A>T (p.Glu2123Val)
c.9086A>T (p.Glu3029Val)
c.9083A>T (p.Glu3028Val)
c.9005A>T (p.Glu3002Val)
c.8990A>T (p.Glu2997Val)
c.2204A>T (p.Glu735Val)
c.2183A>T (p.Glu728Val)
n.9081A>T
5g.90712310A>CCA360396162ADGRV1c.9066A>C (p.Glu3022Asp)
c.265+36101A>C (n.265+36101A>C)
n.4525A>C
c.2873A>C
n.2210A>C
c.3795A>C
c.1763A>C
n.9079A>C
c.9063A>C (p.Glu3021Asp)
c.8985A>C (p.Glu2995Asp)
c.6369A>C (p.Glu2123Asp)
c.9087A>C (p.Glu3029Asp)
c.9084A>C (p.Glu3028Asp)
c.9006A>C (p.Glu3002Asp)
c.8991A>C (p.Glu2997Asp)
c.2205A>C (p.Glu735Asp)
c.2184A>C (p.Glu728Asp)
n.9082A>C
5g.90712310A>GCA445411775ADGRV1c.9066A>G (p.Glu3022=)
c.265+36101A>G (n.265+36101A>G)
n.4525A>G
c.2873A>G
n.2210A>G
c.3795A>G
c.1763A>G
n.9079A>G
c.9063A>G (p.Glu3021=)
c.8985A>G (p.Glu2995=)
c.6369A>G (p.Glu2123=)
c.9087A>G (p.Glu3029=)
c.9084A>G (p.Glu3028=)
c.9006A>G (p.Glu3002=)
c.8991A>G (p.Glu2997=)
c.2205A>G (p.Glu735=)
c.2184A>G (p.Glu728=)
n.9082A>G
5g.90712310A>TCA360396163ADGRV1c.9066A>T (p.Glu3022Asp)
c.265+36101A>T (n.265+36101A>T)
n.4525A>T
c.2873A>T
n.2210A>T
c.3795A>T
c.1763A>T
n.9079A>T
c.9063A>T (p.Glu3021Asp)
c.8985A>T (p.Glu2995Asp)
c.6369A>T (p.Glu2123Asp)
c.9087A>T (p.Glu3029Asp)
c.9084A>T (p.Glu3028Asp)
c.9006A>T (p.Glu3002Asp)
c.8991A>T (p.Glu2997Asp)
c.2205A>T (p.Glu735Asp)
c.2184A>T (p.Glu728Asp)
n.9082A>T
5g.90712311A>CCA445411778ADGRV1c.9067A>C (p.Arg3023=)
c.265+36102A>C (n.265+36102A>C)
n.4526A>C
c.2874A>C
n.2211A>C
c.3796A>C
c.1764A>C
n.9080A>C
c.9064A>C (p.Arg3022=)
c.8986A>C (p.Arg2996=)
c.6370A>C (p.Arg2124=)
c.9088A>C (p.Arg3030=)
c.9085A>C (p.Arg3029=)
c.9007A>C (p.Arg3003=)
c.8992A>C (p.Arg2998=)
c.2206A>C (p.Arg736=)
c.2185A>C (p.Arg729=)
n.9083A>C
5g.90712311A>GCA360396164ADGRV1c.9067A>G (p.Arg3023Gly)
c.265+36102A>G (n.265+36102A>G)
n.4526A>G
c.2874A>G
n.2211A>G
c.3796A>G
c.1764A>G
n.9080A>G
c.9064A>G (p.Arg3022Gly)
c.8986A>G (p.Arg2996Gly)
c.6370A>G (p.Arg2124Gly)
c.9088A>G (p.Arg3030Gly)
c.9085A>G (p.Arg3029Gly)
c.9007A>G (p.Arg3003Gly)
c.8992A>G (p.Arg2998Gly)
c.2206A>G (p.Arg736Gly)
c.2185A>G (p.Arg729Gly)
n.9083A>G
5g.90712311A>TCA360396165ADGRV1c.9067A>T (p.Arg3023Trp)
c.265+36102A>T (n.265+36102A>T)
n.4526A>T
c.2874A>T
n.2211A>T
c.3796A>T
c.1764A>T
n.9080A>T
c.9064A>T (p.Arg3022Trp)
c.8986A>T (p.Arg2996Trp)
c.6370A>T (p.Arg2124Trp)
c.9088A>T (p.Arg3030Trp)
c.9085A>T (p.Arg3029Trp)
c.9007A>T (p.Arg3003Trp)
c.8992A>T (p.Arg2998Trp)
c.2206A>T (p.Arg736Trp)
c.2185A>T (p.Arg729Trp)
n.9083A>T
gnomAD v4
5g.90712312G>ACA360396166ADGRV1c.9068G>A (p.Arg3023Lys)
c.265+36103G>A (n.265+36103G>A)
n.4527G>A
c.2875G>A
n.2212G>A
c.3797G>A
c.1765G>A
n.9081G>A
c.9065G>A (p.Arg3022Lys)
c.8987G>A (p.Arg2996Lys)
c.6371G>A (p.Arg2124Lys)
c.9089G>A (p.Arg3030Lys)
c.9086G>A (p.Arg3029Lys)
c.9008G>A (p.Arg3003Lys)
c.8993G>A (p.Arg2998Lys)
c.2207G>A (p.Arg736Lys)
c.2186G>A (p.Arg729Lys)
n.9084G>A
gnomAD v4 COSMIC
5g.90712312G>CCA360396167ADGRV1c.9068G>C (p.Arg3023Thr)
c.265+36103G>C (n.265+36103G>C)
n.4527G>C
c.2875G>C
n.2212G>C
c.3797G>C
c.1765G>C
n.9081G>C
c.9065G>C (p.Arg3022Thr)
c.8987G>C (p.Arg2996Thr)
c.6371G>C (p.Arg2124Thr)
c.9089G>C (p.Arg3030Thr)
c.9086G>C (p.Arg3029Thr)
c.9008G>C (p.Arg3003Thr)
c.8993G>C (p.Arg2998Thr)
c.2207G>C (p.Arg736Thr)
c.2186G>C (p.Arg729Thr)
n.9084G>C
5g.90712312G=CA1562867526ADGRV1c.9068G= (p.Arg3023=)
c.265+36103G= (n.265+36103G=)
n.4527G=
c.2875G=
n.2212G=
c.3797G=
c.1765G=
n.9081G=
c.9065G= (p.Arg3022=)
c.8987G= (p.Arg2996=)
c.6371G= (p.Arg2124=)
c.9089G= (p.Arg3030=)
c.9086G= (p.Arg3029=)
c.9008G= (p.Arg3003=)
c.8993G= (p.Arg2998=)
c.2207G= (p.Arg736=)
c.2186G= (p.Arg729=)
n.9084G=
5g.90712312G>TCA360396168ADGRV1c.9068G>T (p.Arg3023Met)
c.265+36103G>T (n.265+36103G>T)
n.4527G>T
c.2875G>T
n.2212G>T
c.3797G>T
c.1765G>T
n.9081G>T
c.9065G>T (p.Arg3022Met)
c.8987G>T (p.Arg2996Met)
c.6371G>T (p.Arg2124Met)
c.9089G>T (p.Arg3030Met)
c.9086G>T (p.Arg3029Met)
c.9008G>T (p.Arg3003Met)
c.8993G>T (p.Arg2998Met)
c.2207G>T (p.Arg736Met)
c.2186G>T (p.Arg729Met)
n.9084G>T
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.90712313G>ACA445411785ADGRV1c.9069G>A (p.Arg3023=)
c.265+36104G>A (n.265+36104G>A)
n.4528G>A
c.2876G>A
n.2213G>A
c.3798G>A
c.1766G>A
n.9082G>A
c.9066G>A (p.Arg3022=)
c.8988G>A (p.Arg2996=)
c.6372G>A (p.Arg2124=)
c.9090G>A (p.Arg3030=)
c.9087G>A (p.Arg3029=)
c.9009G>A (p.Arg3003=)
c.8994G>A (p.Arg2998=)
c.2208G>A (p.Arg736=)
c.2187G>A (p.Arg729=)
n.9085G>A
gnomAD v4
5g.90712313G>CCA3340439ADGRV1c.9069G>C (p.Arg3023Ser)
c.265+36104G>C (n.265+36104G>C)
n.4528G>C
c.2876G>C
n.2213G>C
c.3798G>C
c.1766G>C
n.9082G>C
c.9066G>C (p.Arg3022Ser)
c.8988G>C (p.Arg2996Ser)
c.6372G>C (p.Arg2124Ser)
c.9090G>C (p.Arg3030Ser)
c.9087G>C (p.Arg3029Ser)
c.9009G>C (p.Arg3003Ser)
c.8994G>C (p.Arg2998Ser)
c.2208G>C (p.Arg736Ser)
c.2187G>C (p.Arg729Ser)
n.9085G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90712313G=CA1562867527ADGRV1c.9069G= (p.Arg3023=)
c.265+36104G= (n.265+36104G=)
n.4528G=
c.2876G=
n.2213G=
c.3798G=
c.1766G=
n.9082G=
c.9066G= (p.Arg3022=)
c.8988G= (p.Arg2996=)
c.6372G= (p.Arg2124=)
c.9090G= (p.Arg3030=)
c.9087G= (p.Arg3029=)
c.9009G= (p.Arg3003=)
c.8994G= (p.Arg2998=)
c.2208G= (p.Arg736=)
c.2187G= (p.Arg729=)
n.9085G=
5g.90712313G>TCA360396169ADGRV1c.9069G>T (p.Arg3023Ser)
c.265+36104G>T (n.265+36104G>T)
n.4528G>T
c.2876G>T
n.2213G>T
c.3798G>T
c.1766G>T
n.9082G>T
c.9066G>T (p.Arg3022Ser)
c.8988G>T (p.Arg2996Ser)
c.6372G>T (p.Arg2124Ser)
c.9090G>T (p.Arg3030Ser)
c.9087G>T (p.Arg3029Ser)
c.9009G>T (p.Arg3003Ser)
c.8994G>T (p.Arg2998Ser)
c.2208G>T (p.Arg736Ser)
c.2187G>T (p.Arg729Ser)
n.9085G>T
gnomAD v4
5g.90712314T>ACA360396170ADGRV1c.9070T>A (p.Tyr3024Asn)
c.265+36105T>A (n.265+36105T>A)
n.4529T>A
c.2877T>A
n.2214T>A
c.3799T>A
c.1767T>A
n.9083T>A
c.9067T>A (p.Tyr3023Asn)
c.8989T>A (p.Tyr2997Asn)
c.6373T>A (p.Tyr2125Asn)
c.9091T>A (p.Tyr3031Asn)
c.9088T>A (p.Tyr3030Asn)
c.9010T>A (p.Tyr3004Asn)
c.8995T>A (p.Tyr2999Asn)
c.2209T>A (p.Tyr737Asn)
c.2188T>A (p.Tyr730Asn)
n.9086T>A
5g.90712314T>CCA360396171ADGRV1c.9070T>C (p.Tyr3024His)
c.265+36105T>C (n.265+36105T>C)
n.4529T>C
c.2877T>C
n.2214T>C
c.3799T>C
c.1767T>C
n.9083T>C
c.9067T>C (p.Tyr3023His)
c.8989T>C (p.Tyr2997His)
c.6373T>C (p.Tyr2125His)
c.9091T>C (p.Tyr3031His)
c.9088T>C (p.Tyr3030His)
c.9010T>C (p.Tyr3004His)
c.8995T>C (p.Tyr2999His)
c.2209T>C (p.Tyr737His)
c.2188T>C (p.Tyr730His)
n.9086T>C
gnomAD v4
5g.90712314T>GCA360396172ADGRV1c.9070T>G (p.Tyr3024Asp)
c.265+36105T>G (n.265+36105T>G)
n.4529T>G
c.2877T>G
n.2214T>G
c.3799T>G
c.1767T>G
n.9083T>G
c.9067T>G (p.Tyr3023Asp)
c.8989T>G (p.Tyr2997Asp)
c.6373T>G (p.Tyr2125Asp)
c.9091T>G (p.Tyr3031Asp)
c.9088T>G (p.Tyr3030Asp)
c.9010T>G (p.Tyr3004Asp)
c.8995T>G (p.Tyr2999Asp)
c.2209T>G (p.Tyr737Asp)
c.2188T>G (p.Tyr730Asp)
n.9086T>G
5g.90712315A=CA1562867528ADGRV1c.9071A= (p.Tyr3024=)
c.265+36106A= (n.265+36106A=)
n.4530A=
c.2878A=
n.2215A=
c.3800A=
c.1768A=
n.9084A=
c.9068A= (p.Tyr3023=)
c.8990A= (p.Tyr2997=)
c.6374A= (p.Tyr2125=)
c.9092A= (p.Tyr3031=)
c.9089A= (p.Tyr3030=)
c.9011A= (p.Tyr3004=)
c.8996A= (p.Tyr2999=)
c.2210A= (p.Tyr737=)
c.2189A= (p.Tyr730=)
n.9087A=
5g.90712315A>CCA360396174ADGRV1c.9071A>C (p.Tyr3024Ser)
c.265+36106A>C (n.265+36106A>C)
n.4530A>C
c.2878A>C
n.2215A>C
c.3800A>C
c.1768A>C
n.9084A>C
c.9068A>C (p.Tyr3023Ser)
c.8990A>C (p.Tyr2997Ser)
c.6374A>C (p.Tyr2125Ser)
c.9092A>C (p.Tyr3031Ser)
c.9089A>C (p.Tyr3030Ser)
c.9011A>C (p.Tyr3004Ser)
c.8996A>C (p.Tyr2999Ser)
c.2210A>C (p.Tyr737Ser)
c.2189A>C (p.Tyr730Ser)
n.9087A>C
5g.90712315A>GCA360396173ADGRV1c.9071A>G (p.Tyr3024Cys)
c.265+36106A>G (n.265+36106A>G)
n.4530A>G
c.2878A>G
n.2215A>G
c.3800A>G
c.1768A>G
n.9084A>G
c.9068A>G (p.Tyr3023Cys)
c.8990A>G (p.Tyr2997Cys)
c.6374A>G (p.Tyr2125Cys)
c.9092A>G (p.Tyr3031Cys)
c.9089A>G (p.Tyr3030Cys)
c.9011A>G (p.Tyr3004Cys)
c.8996A>G (p.Tyr2999Cys)
c.2210A>G (p.Tyr737Cys)
c.2189A>G (p.Tyr730Cys)
n.9087A>G
gnomAD v4 COSMIC
5g.90712315A>TCA3340440ADGRV1c.9071A>T (p.Tyr3024Phe)
c.265+36106A>T (n.265+36106A>T)
n.4530A>T
c.2878A>T
n.2215A>T
c.3800A>T
c.1768A>T
n.9084A>T
c.9068A>T (p.Tyr3023Phe)
c.8990A>T (p.Tyr2997Phe)
c.6374A>T (p.Tyr2125Phe)
c.9092A>T (p.Tyr3031Phe)
c.9089A>T (p.Tyr3030Phe)
c.9011A>T (p.Tyr3004Phe)
c.8996A>T (p.Tyr2999Phe)
c.2210A>T (p.Tyr737Phe)
c.2189A>T (p.Tyr730Phe)
n.9087A>T
dbSNP ExAC gnomAD v2 gnomAD v4
5g.90712316T>ACA360396175ADGRV1c.9072T>A (p.Tyr3024Ter)
c.265+36107T>A (n.265+36107T>A)
n.4531T>A
c.2879T>A
n.2216T>A
c.3801T>A
c.1769T>A
n.9085T>A
c.9069T>A (p.Tyr3023Ter)
c.8991T>A (p.Tyr2997Ter)
c.6375T>A (p.Tyr2125Ter)
c.9093T>A (p.Tyr3031Ter)
c.9090T>A (p.Tyr3030Ter)
c.9012T>A (p.Tyr3004Ter)
c.8997T>A (p.Tyr2999Ter)
c.2211T>A (p.Tyr737Ter)
c.2190T>A (p.Tyr730Ter)
n.9088T>A
gnomAD v4
5g.90712316T>CCA3340441ADGRV1c.9072T>C (p.Tyr3024=)
c.265+36107T>C (n.265+36107T>C)
n.4531T>C
c.2879T>C
n.2216T>C
c.3801T>C
c.1769T>C
n.9085T>C
c.9069T>C (p.Tyr3023=)
c.8991T>C (p.Tyr2997=)
c.6375T>C (p.Tyr2125=)
c.9093T>C (p.Tyr3031=)
c.9090T>C (p.Tyr3030=)
c.9012T>C (p.Tyr3004=)
c.8997T>C (p.Tyr2999=)
c.2211T>C (p.Tyr737=)
c.2190T>C (p.Tyr730=)
n.9088T>C
dbSNP ExAC gnomAD v2 gnomAD v4
5g.90712316T>GCA360396176ADGRV1c.9072T>G (p.Tyr3024Ter)
c.265+36107T>G (n.265+36107T>G)
n.4531T>G
c.2879T>G
n.2216T>G
c.3801T>G
c.1769T>G
n.9085T>G
c.9069T>G (p.Tyr3023Ter)
c.8991T>G (p.Tyr2997Ter)
c.6375T>G (p.Tyr2125Ter)
c.9093T>G (p.Tyr3031Ter)
c.9090T>G (p.Tyr3030Ter)
c.9012T>G (p.Tyr3004Ter)
c.8997T>G (p.Tyr2999Ter)
c.2211T>G (p.Tyr737Ter)
c.2190T>G (p.Tyr730Ter)
n.9088T>G
5g.90712316T=CA1562867529ADGRV1c.9072T= (p.Tyr3024=)
c.265+36107T= (n.265+36107T=)
n.4531T=
c.2879T=
n.2216T=
c.3801T=
c.1769T=
n.9085T=
c.9069T= (p.Tyr3023=)
c.8991T= (p.Tyr2997=)
c.6375T= (p.Tyr2125=)
c.9093T= (p.Tyr3031=)
c.9090T= (p.Tyr3030=)
c.9012T= (p.Tyr3004=)
c.8997T= (p.Tyr2999=)
c.2211T= (p.Tyr737=)
c.2190T= (p.Tyr730=)
n.9088T=
5g.90712317A>CCA360396177ADGRV1c.9073A>C (p.Lys3025Gln)
c.265+36108A>C (n.265+36108A>C)
n.4532A>C
c.2880A>C
n.2217A>C
c.3802A>C
c.1770A>C
n.9086A>C
c.9070A>C (p.Lys3024Gln)
c.8992A>C (p.Lys2998Gln)
c.6376A>C (p.Lys2126Gln)
c.9094A>C (p.Lys3032Gln)
c.9091A>C (p.Lys3031Gln)
c.9013A>C (p.Lys3005Gln)
c.8998A>C (p.Lys3000Gln)
c.2212A>C (p.Lys738Gln)
c.2191A>C (p.Lys731Gln)
n.9089A>C
5g.90712317A>GCA360396178ADGRV1c.9073A>G (p.Lys3025Glu)
c.265+36108A>G (n.265+36108A>G)
n.4532A>G
c.2880A>G
n.2217A>G
c.3802A>G
c.1770A>G
n.9086A>G
c.9070A>G (p.Lys3024Glu)
c.8992A>G (p.Lys2998Glu)
c.6376A>G (p.Lys2126Glu)
c.9094A>G (p.Lys3032Glu)
c.9091A>G (p.Lys3031Glu)
c.9013A>G (p.Lys3005Glu)
c.8998A>G (p.Lys3000Glu)
c.2212A>G (p.Lys738Glu)
c.2191A>G (p.Lys731Glu)
n.9089A>G
gnomAD v4
5g.90712317A>TCA360396179ADGRV1c.9073A>T (p.Lys3025Ter)
c.265+36108A>T (n.265+36108A>T)
n.4532A>T
c.2880A>T
n.2217A>T
c.3802A>T
c.1770A>T
n.9086A>T
c.9070A>T (p.Lys3024Ter)
c.8992A>T (p.Lys2998Ter)
c.6376A>T (p.Lys2126Ter)
c.9094A>T (p.Lys3032Ter)
c.9091A>T (p.Lys3031Ter)
c.9013A>T (p.Lys3005Ter)
c.8998A>T (p.Lys3000Ter)
c.2212A>T (p.Lys738Ter)
c.2191A>T (p.Lys731Ter)
n.9089A>T
5g.90712318A>CCA360396180ADGRV1c.9074A>C (p.Lys3025Thr)
c.265+36109A>C (n.265+36109A>C)
n.4533A>C
c.2881A>C
n.2218A>C
c.3803A>C
c.1771A>C
n.9087A>C
c.9071A>C (p.Lys3024Thr)
c.8993A>C (p.Lys2998Thr)
c.6377A>C (p.Lys2126Thr)
c.9095A>C (p.Lys3032Thr)
c.9092A>C (p.Lys3031Thr)
c.9014A>C (p.Lys3005Thr)
c.8999A>C (p.Lys3000Thr)
c.2213A>C (p.Lys738Thr)
c.2192A>C (p.Lys731Thr)
n.9090A>C
ClinVar
5g.90712318A>GCA360396181ADGRV1c.9074A>G (p.Lys3025Arg)
c.265+36109A>G (n.265+36109A>G)
n.4533A>G
c.2881A>G
n.2218A>G
c.3803A>G
c.1771A>G
n.9087A>G
c.9071A>G (p.Lys3024Arg)
c.8993A>G (p.Lys2998Arg)
c.6377A>G (p.Lys2126Arg)
c.9095A>G (p.Lys3032Arg)
c.9092A>G (p.Lys3031Arg)
c.9014A>G (p.Lys3005Arg)
c.8999A>G (p.Lys3000Arg)
c.2213A>G (p.Lys738Arg)
c.2192A>G (p.Lys731Arg)
n.9090A>G
5g.90712318A>TCA360396182ADGRV1c.9074A>T (p.Lys3025Ile)
c.265+36109A>T (n.265+36109A>T)
n.4533A>T
c.2881A>T
n.2218A>T
c.3803A>T
c.1771A>T
n.9087A>T
c.9071A>T (p.Lys3024Ile)
c.8993A>T (p.Lys2998Ile)
c.6377A>T (p.Lys2126Ile)
c.9095A>T (p.Lys3032Ile)
c.9092A>T (p.Lys3031Ile)
c.9014A>T (p.Lys3005Ile)
c.8999A>T (p.Lys3000Ile)
c.2213A>T (p.Lys738Ile)
c.2192A>T (p.Lys731Ile)
n.9090A>T
5g.90712319A>CCA360396183ADGRV1c.9075A>C (p.Lys3025Asn)
c.265+36110A>C (n.265+36110A>C)
n.4534A>C
c.2882A>C
n.2219A>C
c.3804A>C
c.1772A>C
n.9088A>C
c.9072A>C (p.Lys3024Asn)
c.8994A>C (p.Lys2998Asn)
c.6378A>C (p.Lys2126Asn)
c.9096A>C (p.Lys3032Asn)
c.9093A>C (p.Lys3031Asn)
c.9015A>C (p.Lys3005Asn)
c.9000A>C (p.Lys3000Asn)
c.2214A>C (p.Lys738Asn)
c.2193A>C (p.Lys731Asn)
n.9091A>C
5g.90712319A>GCA445411799ADGRV1c.9075A>G (p.Lys3025=)
c.265+36110A>G (n.265+36110A>G)
n.4534A>G
c.2882A>G
n.2219A>G
c.3804A>G
c.1772A>G
n.9088A>G
c.9072A>G (p.Lys3024=)
c.8994A>G (p.Lys2998=)
c.6378A>G (p.Lys2126=)
c.9096A>G (p.Lys3032=)
c.9093A>G (p.Lys3031=)
c.9015A>G (p.Lys3005=)
c.9000A>G (p.Lys3000=)
c.2214A>G (p.Lys738=)
c.2193A>G (p.Lys731=)
n.9091A>G
5g.90712319A>TCA360396184ADGRV1c.9075A>T (p.Lys3025Asn)
c.265+36110A>T (n.265+36110A>T)
n.4534A>T
c.2882A>T
n.2219A>T
c.3804A>T
c.1772A>T
n.9088A>T
c.9072A>T (p.Lys3024Asn)
c.8994A>T (p.Lys2998Asn)
c.6378A>T (p.Lys2126Asn)
c.9096A>T (p.Lys3032Asn)
c.9093A>T (p.Lys3031Asn)
c.9015A>T (p.Lys3005Asn)
c.9000A>T (p.Lys3000Asn)
c.2214A>T (p.Lys738Asn)
c.2193A>T (p.Lys731Asn)
n.9091A>T
5g.90712320A=CA1562867530ADGRV1c.9076A= (p.Asn3026=)
c.265+36111A= (n.265+36111A=)
n.4535A=
c.2883A=
n.2220A=
c.3805A=
c.1773A=
n.9089A=
c.9073A= (p.Asn3025=)
c.8995A= (p.Asn2999=)
c.6379A= (p.Asn2127=)
c.9097A= (p.Asn3033=)
c.9094A= (p.Asn3032=)
c.9016A= (p.Asn3006=)
c.9001A= (p.Asn3001=)
c.2215A= (p.Asn739=)
c.2194A= (p.Asn732=)
n.9092A=
5g.90712320A>CCA360396187ADGRV1c.9076A>C (p.Asn3026His)
c.265+36111A>C (n.265+36111A>C)
n.4535A>C
c.2883A>C
n.2220A>C
c.3805A>C
c.1773A>C
n.9089A>C
c.9073A>C (p.Asn3025His)
c.8995A>C (p.Asn2999His)
c.6379A>C (p.Asn2127His)
c.9097A>C (p.Asn3033His)
c.9094A>C (p.Asn3032His)
c.9016A>C (p.Asn3006His)
c.9001A>C (p.Asn3001His)
c.2215A>C (p.Asn739His)
c.2194A>C (p.Asn732His)
n.9092A>C
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.90712320A>GCA360396186ADGRV1c.9076A>G (p.Asn3026Asp)
c.265+36111A>G (n.265+36111A>G)
n.4535A>G
c.2883A>G
n.2220A>G
c.3805A>G
c.1773A>G
n.9089A>G
c.9073A>G (p.Asn3025Asp)
c.8995A>G (p.Asn2999Asp)
c.6379A>G (p.Asn2127Asp)
c.9097A>G (p.Asn3033Asp)
c.9094A>G (p.Asn3032Asp)
c.9016A>G (p.Asn3006Asp)
c.9001A>G (p.Asn3001Asp)
c.2215A>G (p.Asn739Asp)
c.2194A>G (p.Asn732Asp)
n.9092A>G
5g.90712320A>TCA360396185ADGRV1c.9076A>T (p.Asn3026Tyr)
c.265+36111A>T (n.265+36111A>T)
n.4535A>T
c.2883A>T
n.2220A>T
c.3805A>T
c.1773A>T
n.9089A>T
c.9073A>T (p.Asn3025Tyr)
c.8995A>T (p.Asn2999Tyr)
c.6379A>T (p.Asn2127Tyr)
c.9097A>T (p.Asn3033Tyr)
c.9094A>T (p.Asn3032Tyr)
c.9016A>T (p.Asn3006Tyr)
c.9001A>T (p.Asn3001Tyr)
c.2215A>T (p.Asn739Tyr)
c.2194A>T (p.Asn732Tyr)
n.9092A>T
5g.90712321A=CA1562867531ADGRV1c.9077A= (p.Asn3026=)
c.265+36112A= (n.265+36112A=)
n.4536A=
c.2884A=
n.2221A=
c.3806A=
c.1774A=
n.9090A=
c.9074A= (p.Asn3025=)
c.8996A= (p.Asn2999=)
c.6380A= (p.Asn2127=)
c.9098A= (p.Asn3033=)
c.9095A= (p.Asn3032=)
c.9017A= (p.Asn3006=)
c.9002A= (p.Asn3001=)
c.2216A= (p.Asn739=)
c.2195A= (p.Asn732=)
n.9093A=
5g.90712321A>CCA360396188ADGRV1c.9077A>C (p.Asn3026Thr)
c.265+36112A>C (n.265+36112A>C)
n.4536A>C
c.2884A>C
n.2221A>C
c.3806A>C
c.1774A>C
n.9090A>C
c.9074A>C (p.Asn3025Thr)
c.8996A>C (p.Asn2999Thr)
c.6380A>C (p.Asn2127Thr)
c.9098A>C (p.Asn3033Thr)
c.9095A>C (p.Asn3032Thr)
c.9017A>C (p.Asn3006Thr)
c.9002A>C (p.Asn3001Thr)
c.2216A>C (p.Asn739Thr)
c.2195A>C (p.Asn732Thr)
n.9093A>C
gnomAD v4
5g.90712321A>GCA360396189ADGRV1c.9077A>G (p.Asn3026Ser)
c.265+36112A>G (n.265+36112A>G)
n.4536A>G
c.2884A>G
n.2221A>G
c.3806A>G
c.1774A>G
n.9090A>G
c.9074A>G (p.Asn3025Ser)
c.8996A>G (p.Asn2999Ser)
c.6380A>G (p.Asn2127Ser)
c.9098A>G (p.Asn3033Ser)
c.9095A>G (p.Asn3032Ser)
c.9017A>G (p.Asn3006Ser)
c.9002A>G (p.Asn3001Ser)
c.2216A>G (p.Asn739Ser)
c.2195A>G (p.Asn732Ser)
n.9093A>G
5g.90712321A>TCA3340442ADGRV1c.9077A>T (p.Asn3026Ile)
c.265+36112A>T (n.265+36112A>T)
n.4536A>T
c.2884A>T
n.2221A>T
c.3806A>T
c.1774A>T
n.9090A>T
c.9074A>T (p.Asn3025Ile)
c.8996A>T (p.Asn2999Ile)
c.6380A>T (p.Asn2127Ile)
c.9098A>T (p.Asn3033Ile)
c.9095A>T (p.Asn3032Ile)
c.9017A>T (p.Asn3006Ile)
c.9002A>T (p.Asn3001Ile)
c.2216A>T (p.Asn739Ile)
c.2195A>T (p.Asn732Ile)
n.9093A>T
dbSNP ExAC gnomAD v2 gnomAD v4
5g.90712322T>ACA360396190ADGRV1c.9078T>A (p.Asn3026Lys)
c.265+36113T>A (n.265+36113T>A)
n.4537T>A
c.2885T>A
n.2222T>A
c.3807T>A
c.1775T>A
n.9091T>A
c.9075T>A (p.Asn3025Lys)
c.8997T>A (p.Asn2999Lys)
c.6381T>A (p.Asn2127Lys)
c.9099T>A (p.Asn3033Lys)
c.9096T>A (p.Asn3032Lys)
c.9018T>A (p.Asn3006Lys)
c.9003T>A (p.Asn3001Lys)
c.2217T>A (p.Asn739Lys)
c.2196T>A (p.Asn732Lys)
n.9094T>A
5g.90712322T>CCA445411818ADGRV1c.9078T>C (p.Asn3026=)
c.265+36113T>C (n.265+36113T>C)
n.4537T>C
c.2885T>C
n.2222T>C
c.3807T>C
c.1775T>C
n.9091T>C
c.9075T>C (p.Asn3025=)
c.8997T>C (p.Asn2999=)
c.6381T>C (p.Asn2127=)
c.9099T>C (p.Asn3033=)
c.9096T>C (p.Asn3032=)
c.9018T>C (p.Asn3006=)
c.9003T>C (p.Asn3001=)
c.2217T>C (p.Asn739=)
c.2196T>C (p.Asn732=)
n.9094T>C
5g.90712322T>GCA360396191ADGRV1c.9078T>G (p.Asn3026Lys)
c.265+36113T>G (n.265+36113T>G)
n.4537T>G
c.2885T>G
n.2222T>G
c.3807T>G
c.1775T>G
n.9091T>G
c.9075T>G (p.Asn3025Lys)
c.8997T>G (p.Asn2999Lys)
c.6381T>G (p.Asn2127Lys)
c.9099T>G (p.Asn3033Lys)
c.9096T>G (p.Asn3032Lys)
c.9018T>G (p.Asn3006Lys)
c.9003T>G (p.Asn3001Lys)
c.2217T>G (p.Asn739Lys)
c.2196T>G (p.Asn732Lys)
n.9094T>G
5g.90712322_90712324delCA2564146851ADGRV1c.9078_9080del (p.Val3027del)
c.265+36113_265+36115del (n.265+36113_265+36115del)
n.4537_4539del
c.2885_2887del
n.2222_2224del
c.3807_3809del
c.1775_1777del
n.9091_9093del
c.9075_9077del (p.Val3026del)
c.8997_8999del (p.Val3000del)
c.6381_6383del (p.Val2128del)
c.9099_9101del (p.Val3034del)
c.9096_9098del (p.Val3033del)
c.9018_9020del (p.Val3007del)
c.9003_9005del (p.Val3002del)
c.2217_2219del (p.Val740del)
c.2196_2198del (p.Val733del)
n.9094_9096del
5g.90712323G>ACA360396192ADGRV1c.9079G>A (p.Val3027Ile)
c.265+36114G>A (n.265+36114G>A)
n.4538G>A
c.2886G>A
n.2223G>A
c.3808G>A
c.1776G>A
n.9092G>A
c.9076G>A (p.Val3026Ile)
c.8998G>A (p.Val3000Ile)
c.6382G>A (p.Val2128Ile)
c.9100G>A (p.Val3034Ile)
c.9097G>A (p.Val3033Ile)
c.9019G>A (p.Val3007Ile)
c.9004G>A (p.Val3002Ile)
c.2218G>A (p.Val740Ile)
c.2197G>A (p.Val733Ile)
n.9095G>A
gnomAD v4
5g.90712323G>CCA360396193ADGRV1c.9079G>C (p.Val3027Leu)
c.265+36114G>C (n.265+36114G>C)
n.4538G>C
c.2886G>C
n.2223G>C
c.3808G>C
c.1776G>C
n.9092G>C
c.9076G>C (p.Val3026Leu)
c.8998G>C (p.Val3000Leu)
c.6382G>C (p.Val2128Leu)
c.9100G>C (p.Val3034Leu)
c.9097G>C (p.Val3033Leu)
c.9019G>C (p.Val3007Leu)
c.9004G>C (p.Val3002Leu)
c.2218G>C (p.Val740Leu)
c.2197G>C (p.Val733Leu)
n.9095G>C
5g.90712323G>TCA360396194ADGRV1c.9079G>T (p.Val3027Phe)
c.265+36114G>T (n.265+36114G>T)
n.4538G>T
c.2886G>T
n.2223G>T
c.3808G>T
c.1776G>T
n.9092G>T
c.9076G>T (p.Val3026Phe)
c.8998G>T (p.Val3000Phe)
c.6382G>T (p.Val2128Phe)
c.9100G>T (p.Val3034Phe)
c.9097G>T (p.Val3033Phe)
c.9019G>T (p.Val3007Phe)
c.9004G>T (p.Val3002Phe)
c.2218G>T (p.Val740Phe)
c.2197G>T (p.Val733Phe)
n.9095G>T
5g.90712324T>ACA360396195ADGRV1c.9080T>A (p.Val3027Asp)
c.265+36115T>A (n.265+36115T>A)
n.4539T>A
c.2887T>A
n.2224T>A
c.3809T>A
c.1777T>A
n.9093T>A
c.9077T>A (p.Val3026Asp)
c.8999T>A (p.Val3000Asp)
c.6383T>A (p.Val2128Asp)
c.9101T>A (p.Val3034Asp)
c.9098T>A (p.Val3033Asp)
c.9020T>A (p.Val3007Asp)
c.9005T>A (p.Val3002Asp)
c.2219T>A (p.Val740Asp)
c.2198T>A (p.Val733Asp)
n.9096T>A
5g.90712324T>CCA360396196ADGRV1c.9080T>C (p.Val3027Ala)
c.265+36115T>C (n.265+36115T>C)
n.4539T>C
c.2887T>C
n.2224T>C
c.3809T>C
c.1777T>C
n.9093T>C
c.9077T>C (p.Val3026Ala)
c.8999T>C (p.Val3000Ala)
c.6383T>C (p.Val2128Ala)
c.9101T>C (p.Val3034Ala)
c.9098T>C (p.Val3033Ala)
c.9020T>C (p.Val3007Ala)
c.9005T>C (p.Val3002Ala)
c.2219T>C (p.Val740Ala)
c.2198T>C (p.Val733Ala)
n.9096T>C
5g.90712324T>GCA360396197ADGRV1c.9080T>G (p.Val3027Gly)
c.265+36115T>G (n.265+36115T>G)
n.4539T>G
c.2887T>G
n.2224T>G
c.3809T>G
c.1777T>G
n.9093T>G
c.9077T>G (p.Val3026Gly)
c.8999T>G (p.Val3000Gly)
c.6383T>G (p.Val2128Gly)
c.9101T>G (p.Val3034Gly)
c.9098T>G (p.Val3033Gly)
c.9020T>G (p.Val3007Gly)
c.9005T>G (p.Val3002Gly)
c.2219T>G (p.Val740Gly)
c.2198T>G (p.Val733Gly)
n.9096T>G
gnomAD v4
5g.90712327_90712332delCA2674570067ADGRV1c.9083_9088del (p.Asn3028_Ile3029del)
c.265+36118_265+36123del (n.265+36118_265+36123del)
n.4542_4547del
c.2890_2895del
n.2227_2232del
c.3812_3817del
c.1780_1785del
n.9096_9101del
c.9080_9085del (p.Asn3027_Ile3028del)
c.9002_9007del (p.Asn3001_Ile3002del)
c.6386_6391del (p.Asn2129_Ile2130del)
c.9104_9109del (p.Asn3035_Ile3036del)
c.9101_9106del (p.Asn3034_Ile3035del)
c.9023_9028del (p.Asn3008_Ile3009del)
c.9008_9013del (p.Asn3003_Ile3004del)
c.2222_2227del (p.Asn741_Ile742del)
c.2201_2206del (p.Asn734_Ile735del)
n.9099_9104del
gnomAD v4
5g.90712325C>ACA445411824ADGRV1c.9081C>A (p.Val3027=)
c.265+36116C>A (n.265+36116C>A)
n.4540C>A
c.2888C>A
n.2225C>A
c.3810C>A
c.1778C>A
n.9094C>A
c.9078C>A (p.Val3026=)
c.9000C>A (p.Val3000=)
c.6384C>A (p.Val2128=)
c.9102C>A (p.Val3034=)
c.9099C>A (p.Val3033=)
c.9021C>A (p.Val3007=)
c.9006C>A (p.Val3002=)
c.2220C>A (p.Val740=)
c.2199C>A (p.Val733=)
n.9097C>A
gnomAD v4
5g.90712325C>GCA445411827ADGRV1c.9081C>G (p.Val3027=)
c.265+36116C>G (n.265+36116C>G)
n.4540C>G
c.2888C>G
n.2225C>G
c.3810C>G
c.1778C>G
n.9094C>G
c.9078C>G (p.Val3026=)
c.9000C>G (p.Val3000=)
c.6384C>G (p.Val2128=)
c.9102C>G (p.Val3034=)
c.9099C>G (p.Val3033=)
c.9021C>G (p.Val3007=)
c.9006C>G (p.Val3002=)
c.2220C>G (p.Val740=)
c.2199C>G (p.Val733=)
n.9097C>G
5g.90712325C>TCA445411825ADGRV1c.9081C>T (p.Val3027=)
c.265+36116C>T (n.265+36116C>T)
n.4540C>T
c.2888C>T
n.2225C>T
c.3810C>T
c.1778C>T
n.9094C>T
c.9078C>T (p.Val3026=)
c.9000C>T (p.Val3000=)
c.6384C>T (p.Val2128=)
c.9102C>T (p.Val3034=)
c.9099C>T (p.Val3033=)
c.9021C>T (p.Val3007=)
c.9006C>T (p.Val3002=)
c.2220C>T (p.Val740=)
c.2199C>T (p.Val733=)
n.9097C>T
gnomAD v4
5g.90712326A>CCA360396198ADGRV1c.9082A>C (p.Asn3028His)
c.265+36117A>C (n.265+36117A>C)
n.4541A>C
c.2889A>C
n.2226A>C
c.3811A>C
c.1779A>C
n.9095A>C
c.9079A>C (p.Asn3027His)
c.9001A>C (p.Asn3001His)
c.6385A>C (p.Asn2129His)
c.9103A>C (p.Asn3035His)
c.9100A>C (p.Asn3034His)
c.9022A>C (p.Asn3008His)
c.9007A>C (p.Asn3003His)
c.2221A>C (p.Asn741His)
c.2200A>C (p.Asn734His)
n.9098A>C
5g.90712326A>GCA360396199ADGRV1c.9082A>G (p.Asn3028Asp)
c.265+36117A>G (n.265+36117A>G)
n.4541A>G
c.2889A>G
n.2226A>G
c.3811A>G
c.1779A>G
n.9095A>G
c.9079A>G (p.Asn3027Asp)
c.9001A>G (p.Asn3001Asp)
c.6385A>G (p.Asn2129Asp)
c.9103A>G (p.Asn3035Asp)
c.9100A>G (p.Asn3034Asp)
c.9022A>G (p.Asn3008Asp)
c.9007A>G (p.Asn3003Asp)
c.2221A>G (p.Asn741Asp)
c.2200A>G (p.Asn734Asp)
n.9098A>G
5g.90712326A>TCA360396200ADGRV1c.9082A>T (p.Asn3028Tyr)
c.265+36117A>T (n.265+36117A>T)
n.4541A>T
c.2889A>T
n.2226A>T
c.3811A>T
c.1779A>T
n.9095A>T
c.9079A>T (p.Asn3027Tyr)
c.9001A>T (p.Asn3001Tyr)
c.6385A>T (p.Asn2129Tyr)
c.9103A>T (p.Asn3035Tyr)
c.9100A>T (p.Asn3034Tyr)
c.9022A>T (p.Asn3008Tyr)
c.9007A>T (p.Asn3003Tyr)
c.2221A>T (p.Asn741Tyr)
c.2200A>T (p.Asn734Tyr)
n.9098A>T
5g.90712326_90712327insTTGCA2535339681ADGRV1c.9082_9083insTTG (p.Asn3028delinsIleAsp)
c.265+36117_265+36118insTTG (n.265+36117_265+36118insTTG)
n.4541_4542insTTG
c.2889_2890insTTG
n.2226_2227insTTG
c.3811_3812insTTG
c.1779_1780insTTG
n.9095_9096insTTG
c.9079_9080insTTG (p.Asn3027delinsIleAsp)
c.9001_9002insTTG (p.Asn3001delinsIleAsp)
c.6385_6386insTTG (p.Asn2129delinsIleAsp)
c.9103_9104insTTG (p.Asn3035delinsIleAsp)
c.9100_9101insTTG (p.Asn3034delinsIleAsp)
c.9022_9023insTTG (p.Asn3008delinsIleAsp)
c.9007_9008insTTG (p.Asn3003delinsIleAsp)
c.2221_2222insTTG (p.Asn741delinsIleAsp)
c.2200_2201insTTG (p.Asn734delinsIleAsp)
n.9098_9099insTTG
5g.90712327A=CA1562867532ADGRV1c.9083A= (p.Asn3028=)
c.265+36118A= (n.265+36118A=)
n.4542A=
c.2890A=
n.2227A=
c.3812A=
c.1780A=
n.9096A=
c.9080A= (p.Asn3027=)
c.9002A= (p.Asn3001=)
c.6386A= (p.Asn2129=)
c.9104A= (p.Asn3035=)
c.9101A= (p.Asn3034=)
c.9023A= (p.Asn3008=)
c.9008A= (p.Asn3003=)
c.2222A= (p.Asn741=)
c.2201A= (p.Asn734=)
n.9099A=
5g.90712327A>CCA360396202ADGRV1c.9083A>C (p.Asn3028Thr)
c.265+36118A>C (n.265+36118A>C)
n.4542A>C
c.2890A>C
n.2227A>C
c.3812A>C
c.1780A>C
n.9096A>C
c.9080A>C (p.Asn3027Thr)
c.9002A>C (p.Asn3001Thr)
c.6386A>C (p.Asn2129Thr)
c.9104A>C (p.Asn3035Thr)
c.9101A>C (p.Asn3034Thr)
c.9023A>C (p.Asn3008Thr)
c.9008A>C (p.Asn3003Thr)
c.2222A>C (p.Asn741Thr)
c.2201A>C (p.Asn734Thr)
n.9099A>C
5g.90712327A>GCA245640ADGRV1c.9083A>G (p.Asn3028Ser)
c.265+36118A>G (n.265+36118A>G)
n.4542A>G
c.2890A>G
n.2227A>G
c.3812A>G
c.1780A>G
n.9096A>G
c.9080A>G (p.Asn3027Ser)
c.9002A>G (p.Asn3001Ser)
c.6386A>G (p.Asn2129Ser)
c.9104A>G (p.Asn3035Ser)
c.9101A>G (p.Asn3034Ser)
c.9023A>G (p.Asn3008Ser)
c.9008A>G (p.Asn3003Ser)
c.2222A>G (p.Asn741Ser)
c.2201A>G (p.Asn734Ser)
n.9099A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90712327A>TCA360396201ADGRV1c.9083A>T (p.Asn3028Ile)
c.265+36118A>T (n.265+36118A>T)
n.4542A>T
c.2890A>T
n.2227A>T
c.3812A>T
c.1780A>T
n.9096A>T
c.9080A>T (p.Asn3027Ile)
c.9002A>T (p.Asn3001Ile)
c.6386A>T (p.Asn2129Ile)
c.9104A>T (p.Asn3035Ile)
c.9101A>T (p.Asn3034Ile)
c.9023A>T (p.Asn3008Ile)
c.9008A>T (p.Asn3003Ile)
c.2222A>T (p.Asn741Ile)
c.2201A>T (p.Asn734Ile)
n.9099A>T
5g.90712328T>ACA360396203ADGRV1c.9084T>A (p.Asn3028Lys)
c.265+36119T>A (n.265+36119T>A)
n.4543T>A
c.2891T>A
n.2228T>A
c.3813T>A
c.1781T>A
n.9097T>A
c.9081T>A (p.Asn3027Lys)
c.9003T>A (p.Asn3001Lys)
c.6387T>A (p.Asn2129Lys)
c.9105T>A (p.Asn3035Lys)
c.9102T>A (p.Asn3034Lys)
c.9024T>A (p.Asn3008Lys)
c.9009T>A (p.Asn3003Lys)
c.2223T>A (p.Asn741Lys)
c.2202T>A (p.Asn734Lys)
n.9100T>A
5g.90712328T>CCA445411834ADGRV1c.9084T>C (p.Asn3028=)
c.265+36119T>C (n.265+36119T>C)
n.4543T>C
c.2891T>C
n.2228T>C
c.3813T>C
c.1781T>C
n.9097T>C
c.9081T>C (p.Asn3027=)
c.9003T>C (p.Asn3001=)
c.6387T>C (p.Asn2129=)
c.9105T>C (p.Asn3035=)
c.9102T>C (p.Asn3034=)
c.9024T>C (p.Asn3008=)
c.9009T>C (p.Asn3003=)
c.2223T>C (p.Asn741=)
c.2202T>C (p.Asn734=)
n.9100T>C
ClinVar
5g.90712328T>GCA360396204ADGRV1c.9084T>G (p.Asn3028Lys)
c.265+36119T>G (n.265+36119T>G)
n.4543T>G
c.2891T>G
n.2228T>G
c.3813T>G
c.1781T>G
n.9097T>G
c.9081T>G (p.Asn3027Lys)
c.9003T>G (p.Asn3001Lys)
c.6387T>G (p.Asn2129Lys)
c.9105T>G (p.Asn3035Lys)
c.9102T>G (p.Asn3034Lys)
c.9024T>G (p.Asn3008Lys)
c.9009T>G (p.Asn3003Lys)
c.2223T>G (p.Asn741Lys)
c.2202T>G (p.Asn734Lys)
n.9100T>G
5g.90712329A=CA1562867533ADGRV1c.9085A= (p.Ile3029=)
c.265+36120A= (n.265+36120A=)
n.4544A=
c.2892A=
n.2229A=
c.3814A=
c.1782A=
n.9098A=
c.9082A= (p.Ile3028=)
c.9004A= (p.Ile3002=)
c.6388A= (p.Ile2130=)
c.9106A= (p.Ile3036=)
c.9103A= (p.Ile3035=)
c.9025A= (p.Ile3009=)
c.9010A= (p.Ile3004=)
c.2224A= (p.Ile742=)
c.2203A= (p.Ile735=)
n.9101A=
5g.90712329A>CCA360396205ADGRV1c.9085A>C (p.Ile3029Leu)
c.265+36120A>C (n.265+36120A>C)
n.4544A>C
c.2892A>C
n.2229A>C
c.3814A>C
c.1782A>C
n.9098A>C
c.9082A>C (p.Ile3028Leu)
c.9004A>C (p.Ile3002Leu)
c.6388A>C (p.Ile2130Leu)
c.9106A>C (p.Ile3036Leu)
c.9103A>C (p.Ile3035Leu)
c.9025A>C (p.Ile3009Leu)
c.9010A>C (p.Ile3004Leu)
c.2224A>C (p.Ile742Leu)
c.2203A>C (p.Ile735Leu)
n.9101A>C
5g.90712329A>GCA360396206ADGRV1c.9085A>G (p.Ile3029Val)
c.265+36120A>G (n.265+36120A>G)
n.4544A>G
c.2892A>G
n.2229A>G
c.3814A>G
c.1782A>G
n.9098A>G
c.9082A>G (p.Ile3028Val)
c.9004A>G (p.Ile3002Val)
c.6388A>G (p.Ile2130Val)
c.9106A>G (p.Ile3036Val)
c.9103A>G (p.Ile3035Val)
c.9025A>G (p.Ile3009Val)
c.9010A>G (p.Ile3004Val)
c.2224A>G (p.Ile742Val)
c.2203A>G (p.Ile735Val)
n.9101A>G
dbSNP
5g.90712329A>TCA360396207ADGRV1c.9085A>T (p.Ile3029Phe)
c.265+36120A>T (n.265+36120A>T)
n.4544A>T
c.2892A>T
n.2229A>T
c.3814A>T
c.1782A>T
n.9098A>T
c.9082A>T (p.Ile3028Phe)
c.9004A>T (p.Ile3002Phe)
c.6388A>T (p.Ile2130Phe)
c.9106A>T (p.Ile3036Phe)
c.9103A>T (p.Ile3035Phe)
c.9025A>T (p.Ile3009Phe)
c.9010A>T (p.Ile3004Phe)
c.2224A>T (p.Ile742Phe)
c.2203A>T (p.Ile735Phe)
n.9101A>T
gnomAD v4
5g.90712330T>ACA360396208ADGRV1c.9086T>A (p.Ile3029Asn)
c.265+36121T>A (n.265+36121T>A)
n.4545T>A
c.2893T>A
n.2230T>A
c.3815T>A
c.1783T>A
n.9099T>A
c.9083T>A (p.Ile3028Asn)
c.9005T>A (p.Ile3002Asn)
c.6389T>A (p.Ile2130Asn)
c.9107T>A (p.Ile3036Asn)
c.9104T>A (p.Ile3035Asn)
c.9026T>A (p.Ile3009Asn)
c.9011T>A (p.Ile3004Asn)
c.2225T>A (p.Ile742Asn)
c.2204T>A (p.Ile735Asn)
n.9102T>A
5g.90712330T>CCA360396209ADGRV1c.9086T>C (p.Ile3029Thr)
c.265+36121T>C (n.265+36121T>C)
n.4545T>C
c.2893T>C
n.2230T>C
c.3815T>C
c.1783T>C
n.9099T>C
c.9083T>C (p.Ile3028Thr)
c.9005T>C (p.Ile3002Thr)
c.6389T>C (p.Ile2130Thr)
c.9107T>C (p.Ile3036Thr)
c.9104T>C (p.Ile3035Thr)
c.9026T>C (p.Ile3009Thr)
c.9011T>C (p.Ile3004Thr)
c.2225T>C (p.Ile742Thr)
c.2204T>C (p.Ile735Thr)
n.9102T>C
5g.90712330T>GCA360396210ADGRV1c.9086T>G (p.Ile3029Ser)
c.265+36121T>G (n.265+36121T>G)
n.4545T>G
c.2893T>G
n.2230T>G
c.3815T>G
c.1783T>G
n.9099T>G
c.9083T>G (p.Ile3028Ser)
c.9005T>G (p.Ile3002Ser)
c.6389T>G (p.Ile2130Ser)
c.9107T>G (p.Ile3036Ser)
c.9104T>G (p.Ile3035Ser)
c.9026T>G (p.Ile3009Ser)
c.9011T>G (p.Ile3004Ser)
c.2225T>G (p.Ile742Ser)
c.2204T>G (p.Ile735Ser)
n.9102T>G
5g.90712331C>ACA445411843ADGRV1c.9087C>A (p.Ile3029=)
c.265+36122C>A (n.265+36122C>A)
n.4546C>A
c.2894C>A
n.2231C>A
c.3816C>A
c.1784C>A
n.9100C>A
c.9084C>A (p.Ile3028=)
c.9006C>A (p.Ile3002=)
c.6390C>A (p.Ile2130=)
c.9108C>A (p.Ile3036=)
c.9105C>A (p.Ile3035=)
c.9027C>A (p.Ile3009=)
c.9012C>A (p.Ile3004=)
c.2226C>A (p.Ile742=)
c.2205C>A (p.Ile735=)
n.9103C>A
gnomAD v4
5g.90712331C=CA1562867534ADGRV1c.9087C= (p.Ile3029=)
c.265+36122C= (n.265+36122C=)
n.4546C=
c.2894C=
n.2231C=
c.3816C=
c.1784C=
n.9100C=
c.9084C= (p.Ile3028=)
c.9006C= (p.Ile3002=)
c.6390C= (p.Ile2130=)
c.9108C= (p.Ile3036=)
c.9105C= (p.Ile3035=)
c.9027C= (p.Ile3009=)
c.9012C= (p.Ile3004=)
c.2226C= (p.Ile742=)
c.2205C= (p.Ile735=)
n.9103C=
5g.90712331C>GCA122804752ADGRV1c.9087C>G (p.Ile3029Met)
c.265+36122C>G (n.265+36122C>G)
n.4546C>G
c.2894C>G
n.2231C>G
c.3816C>G
c.1784C>G
n.9100C>G
c.9084C>G (p.Ile3028Met)
c.9006C>G (p.Ile3002Met)
c.6390C>G (p.Ile2130Met)
c.9108C>G (p.Ile3036Met)
c.9105C>G (p.Ile3035Met)
c.9027C>G (p.Ile3009Met)
c.9012C>G (p.Ile3004Met)
c.2226C>G (p.Ile742Met)
c.2205C>G (p.Ile735Met)
n.9103C>G
dbSNP gnomAD v3 gnomAD v4
5g.90712331C>TCA445411845ADGRV1c.9087C>T (p.Ile3029=)
c.265+36122C>T (n.265+36122C>T)
n.4546C>T
c.2894C>T
n.2231C>T
c.3816C>T
c.1784C>T
n.9100C>T
c.9084C>T (p.Ile3028=)
c.9006C>T (p.Ile3002=)
c.6390C>T (p.Ile2130=)
c.9108C>T (p.Ile3036=)
c.9105C>T (p.Ile3035=)
c.9027C>T (p.Ile3009=)
c.9012C>T (p.Ile3004=)
c.2226C>T (p.Ile742=)
c.2205C>T (p.Ile735=)
n.9103C>T
5g.90712332A=CA1562867535ADGRV1c.9088A= (p.Met3030=)
c.265+36123A= (n.265+36123A=)
n.4547A=
c.2895A=
n.2232A=
c.3817A=
c.1785A=
n.9101A=
c.9085A= (p.Met3029=)
c.9007A= (p.Met3003=)
c.6391A= (p.Met2131=)
c.9109A= (p.Met3037=)
c.9106A= (p.Met3036=)
c.9028A= (p.Met3010=)
c.9013A= (p.Met3005=)
c.2227A= (p.Met743=)
c.2206A= (p.Met736=)
n.9104A=
5g.90712332A>CCA360396211ADGRV1c.9088A>C (p.Met3030Leu)
c.265+36123A>C (n.265+36123A>C)
n.4547A>C
c.2895A>C
n.2232A>C
c.3817A>C
c.1785A>C
n.9101A>C
c.9085A>C (p.Met3029Leu)
c.9007A>C (p.Met3003Leu)
c.6391A>C (p.Met2131Leu)
c.9109A>C (p.Met3037Leu)
c.9106A>C (p.Met3036Leu)
c.9028A>C (p.Met3010Leu)
c.9013A>C (p.Met3005Leu)
c.2227A>C (p.Met743Leu)
c.2206A>C (p.Met736Leu)
n.9104A>C
5g.90712332A>GCA360396212ADGRV1c.9088A>G (p.Met3030Val)
c.265+36123A>G (n.265+36123A>G)
n.4547A>G
c.2895A>G
n.2232A>G
c.3817A>G
c.1785A>G
n.9101A>G
c.9085A>G (p.Met3029Val)
c.9007A>G (p.Met3003Val)
c.6391A>G (p.Met2131Val)
c.9109A>G (p.Met3037Val)
c.9106A>G (p.Met3036Val)
c.9028A>G (p.Met3010Val)
c.9013A>G (p.Met3005Val)
c.2227A>G (p.Met743Val)
c.2206A>G (p.Met736Val)
n.9104A>G
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.90712332A>TCA360396213ADGRV1c.9088A>T (p.Met3030Leu)
c.265+36123A>T (n.265+36123A>T)
n.4547A>T
c.2895A>T
n.2232A>T
c.3817A>T
c.1785A>T
n.9101A>T
c.9085A>T (p.Met3029Leu)
c.9007A>T (p.Met3003Leu)
c.6391A>T (p.Met2131Leu)
c.9109A>T (p.Met3037Leu)
c.9106A>T (p.Met3036Leu)
c.9028A>T (p.Met3010Leu)
c.9013A>T (p.Met3005Leu)
c.2227A>T (p.Met743Leu)
c.2206A>T (p.Met736Leu)
n.9104A>T
5g.90712333T>ACA360396216ADGRV1c.9089T>A (p.Met3030Lys)
c.265+36124T>A (n.265+36124T>A)
n.4548T>A
c.2896T>A
n.2233T>A
c.3818T>A
c.1786T>A
n.9102T>A
c.9086T>A (p.Met3029Lys)
c.9008T>A (p.Met3003Lys)
c.6392T>A (p.Met2131Lys)
c.9110T>A (p.Met3037Lys)
c.9107T>A (p.Met3036Lys)
c.9029T>A (p.Met3010Lys)
c.9014T>A (p.Met3005Lys)
c.2228T>A (p.Met743Lys)
c.2207T>A (p.Met736Lys)
n.9105T>A
5g.90712333T>CCA360396215ADGRV1c.9089T>C (p.Met3030Thr)
c.265+36124T>C (n.265+36124T>C)
n.4548T>C
c.2896T>C
n.2233T>C
c.3818T>C
c.1786T>C
n.9102T>C
c.9086T>C (p.Met3029Thr)
c.9008T>C (p.Met3003Thr)
c.6392T>C (p.Met2131Thr)
c.9110T>C (p.Met3037Thr)
c.9107T>C (p.Met3036Thr)
c.9029T>C (p.Met3010Thr)
c.9014T>C (p.Met3005Thr)
c.2228T>C (p.Met743Thr)
c.2207T>C (p.Met736Thr)
n.9105T>C
gnomAD v4
5g.90712333T>GCA360396214ADGRV1c.9089T>G (p.Met3030Arg)
c.265+36124T>G (n.265+36124T>G)
n.4548T>G
c.2896T>G
n.2233T>G
c.3818T>G
c.1786T>G
n.9102T>G
c.9086T>G (p.Met3029Arg)
c.9008T>G (p.Met3003Arg)
c.6392T>G (p.Met2131Arg)
c.9110T>G (p.Met3037Arg)
c.9107T>G (p.Met3036Arg)
c.9029T>G (p.Met3010Arg)
c.9014T>G (p.Met3005Arg)
c.2228T>G (p.Met743Arg)
c.2207T>G (p.Met736Arg)
n.9105T>G
5g.90712334G>ACA360396217ADGRV1c.9090G>A (p.Met3030Ile)
c.265+36125G>A (n.265+36125G>A)
n.4549G>A
c.2897G>A
n.2234G>A
c.3819G>A
c.1787G>A
n.9103G>A
c.9087G>A (p.Met3029Ile)
c.9009G>A (p.Met3003Ile)
c.6393G>A (p.Met2131Ile)
c.9111G>A (p.Met3037Ile)
c.9108G>A (p.Met3036Ile)
c.9030G>A (p.Met3010Ile)
c.9015G>A (p.Met3005Ile)
c.2229G>A (p.Met743Ile)
c.2208G>A (p.Met736Ile)
n.9106G>A
gnomAD v4
5g.90712334G>CCA360396218ADGRV1c.9090G>C (p.Met3030Ile)
c.265+36125G>C (n.265+36125G>C)
n.4549G>C
c.2897G>C
n.2234G>C
c.3819G>C
c.1787G>C
n.9103G>C
c.9087G>C (p.Met3029Ile)
c.9009G>C (p.Met3003Ile)
c.6393G>C (p.Met2131Ile)
c.9111G>C (p.Met3037Ile)
c.9108G>C (p.Met3036Ile)
c.9030G>C (p.Met3010Ile)
c.9015G>C (p.Met3005Ile)
c.2229G>C (p.Met743Ile)
c.2208G>C (p.Met736Ile)
n.9106G>C
5g.90712334G>TCA360396219ADGRV1c.9090G>T (p.Met3030Ile)
c.265+36125G>T (n.265+36125G>T)
n.4549G>T
c.2897G>T
n.2234G>T
c.3819G>T
c.1787G>T
n.9103G>T
c.9087G>T (p.Met3029Ile)
c.9009G>T (p.Met3003Ile)
c.6393G>T (p.Met2131Ile)
c.9111G>T (p.Met3037Ile)
c.9108G>T (p.Met3036Ile)
c.9030G>T (p.Met3010Ile)
c.9015G>T (p.Met3005Ile)
c.2229G>T (p.Met743Ile)
c.2208G>T (p.Met736Ile)
n.9106G>T
gnomAD v4
5g.90712335A>CCA360396220ADGRV1c.9091A>C (p.Ile3031Leu)
c.265+36126A>C (n.265+36126A>C)
n.4550A>C
c.2898A>C
n.2235A>C
c.3820A>C
c.1788A>C
n.9104A>C
c.9088A>C (p.Ile3030Leu)
c.9010A>C (p.Ile3004Leu)
c.6394A>C (p.Ile2132Leu)
c.9112A>C (p.Ile3038Leu)
c.9109A>C (p.Ile3037Leu)
c.9031A>C (p.Ile3011Leu)
c.9016A>C (p.Ile3006Leu)
c.2230A>C (p.Ile744Leu)
c.2209A>C (p.Ile737Leu)
n.9107A>C
5g.90712335A>GCA360396221ADGRV1c.9091A>G (p.Ile3031Val)
c.265+36126A>G (n.265+36126A>G)
n.4550A>G
c.2898A>G
n.2235A>G
c.3820A>G
c.1788A>G
n.9104A>G
c.9088A>G (p.Ile3030Val)
c.9010A>G (p.Ile3004Val)
c.6394A>G (p.Ile2132Val)
c.9112A>G (p.Ile3038Val)
c.9109A>G (p.Ile3037Val)
c.9031A>G (p.Ile3011Val)
c.9016A>G (p.Ile3006Val)
c.2230A>G (p.Ile744Val)
c.2209A>G (p.Ile737Val)
n.9107A>G
5g.90712335A>TCA360396222ADGRV1c.9091A>T (p.Ile3031Phe)
c.265+36126A>T (n.265+36126A>T)
n.4550A>T
c.2898A>T
n.2235A>T
c.3820A>T
c.1788A>T
n.9104A>T
c.9088A>T (p.Ile3030Phe)
c.9010A>T (p.Ile3004Phe)
c.6394A>T (p.Ile2132Phe)
c.9112A>T (p.Ile3038Phe)
c.9109A>T (p.Ile3037Phe)
c.9031A>T (p.Ile3011Phe)
c.9016A>T (p.Ile3006Phe)
c.2230A>T (p.Ile744Phe)
c.2209A>T (p.Ile737Phe)
n.9107A>T
5g.90712336T>ACA360396223ADGRV1c.9092T>A (p.Ile3031Asn)
c.265+36127T>A (n.265+36127T>A)
n.4551T>A
c.2899T>A
n.2236T>A
c.3821T>A
c.1789T>A
n.9105T>A
c.9089T>A (p.Ile3030Asn)
c.9011T>A (p.Ile3004Asn)
c.6395T>A (p.Ile2132Asn)
c.9113T>A (p.Ile3038Asn)
c.9110T>A (p.Ile3037Asn)
c.9032T>A (p.Ile3011Asn)
c.9017T>A (p.Ile3006Asn)
c.2231T>A (p.Ile744Asn)
c.2210T>A (p.Ile737Asn)
n.9108T>A
5g.90712336T>CCA360396224ADGRV1c.9092T>C (p.Ile3031Thr)
c.265+36127T>C (n.265+36127T>C)
n.4551T>C
c.2899T>C
n.2236T>C
c.3821T>C
c.1789T>C
n.9105T>C
c.9089T>C (p.Ile3030Thr)
c.9011T>C (p.Ile3004Thr)
c.6395T>C (p.Ile2132Thr)
c.9113T>C (p.Ile3038Thr)
c.9110T>C (p.Ile3037Thr)
c.9032T>C (p.Ile3011Thr)
c.9017T>C (p.Ile3006Thr)
c.2231T>C (p.Ile744Thr)
c.2210T>C (p.Ile737Thr)
n.9108T>C
gnomAD v4
5g.90712336T>GCA360396225ADGRV1c.9092T>G (p.Ile3031Ser)
c.265+36127T>G (n.265+36127T>G)
n.4551T>G
c.2899T>G
n.2236T>G
c.3821T>G
c.1789T>G
n.9105T>G
c.9089T>G (p.Ile3030Ser)
c.9011T>G (p.Ile3004Ser)
c.6395T>G (p.Ile2132Ser)
c.9113T>G (p.Ile3038Ser)
c.9110T>G (p.Ile3037Ser)
c.9032T>G (p.Ile3011Ser)
c.9017T>G (p.Ile3006Ser)
c.2231T>G (p.Ile744Ser)
c.2210T>G (p.Ile737Ser)
n.9108T>G
5g.90712337T>ACA445411858ADGRV1c.9093T>A (p.Ile3031=)
c.265+36128T>A (n.265+36128T>A)
n.4552T>A
c.2900T>A
n.2237T>A
c.3822T>A
c.1790T>A
n.9106T>A
c.9090T>A (p.Ile3030=)
c.9012T>A (p.Ile3004=)
c.6396T>A (p.Ile2132=)
c.9114T>A (p.Ile3038=)
c.9111T>A (p.Ile3037=)
c.9033T>A (p.Ile3011=)
c.9018T>A (p.Ile3006=)
c.2232T>A (p.Ile744=)
c.2211T>A (p.Ile737=)
n.9109T>A
5g.90712337T>CCA445411861ADGRV1c.9093T>C (p.Ile3031=)
c.265+36128T>C (n.265+36128T>C)
n.4552T>C
c.2900T>C
n.2237T>C
c.3822T>C
c.1790T>C
n.9106T>C
c.9090T>C (p.Ile3030=)
c.9012T>C (p.Ile3004=)
c.6396T>C (p.Ile2132=)
c.9114T>C (p.Ile3038=)
c.9111T>C (p.Ile3037=)
c.9033T>C (p.Ile3011=)
c.9018T>C (p.Ile3006=)
c.2232T>C (p.Ile744=)
c.2211T>C (p.Ile737=)
n.9109T>C
gnomAD v4
5g.90712337T>GCA360396226ADGRV1c.9093T>G (p.Ile3031Met)
c.265+36128T>G (n.265+36128T>G)
n.4552T>G
c.2900T>G
n.2237T>G
c.3822T>G
c.1790T>G
n.9106T>G
c.9090T>G (p.Ile3030Met)
c.9012T>G (p.Ile3004Met)
c.6396T>G (p.Ile2132Met)
c.9114T>G (p.Ile3038Met)
c.9111T>G (p.Ile3037Met)
c.9033T>G (p.Ile3011Met)
c.9018T>G (p.Ile3006Met)
c.2232T>G (p.Ile744Met)
c.2211T>G (p.Ile737Met)
n.9109T>G
5g.90712338C>ACA360396227ADGRV1c.9094C>A (p.Leu3032Ile)
c.265+36129C>A (n.265+36129C>A)
n.4553C>A
c.2901C>A
n.2238C>A
c.3823C>A
c.1791C>A
n.9107C>A
c.9091C>A (p.Leu3031Ile)
c.9013C>A (p.Leu3005Ile)
c.6397C>A (p.Leu2133Ile)
c.9115C>A (p.Leu3039Ile)
c.9112C>A (p.Leu3038Ile)
c.9034C>A (p.Leu3012Ile)
c.9019C>A (p.Leu3007Ile)
c.2233C>A (p.Leu745Ile)
c.2212C>A (p.Leu738Ile)
n.9110C>A
gnomAD v4 COSMIC
5g.90712338C>GCA360396228ADGRV1c.9094C>G (p.Leu3032Val)
c.265+36129C>G (n.265+36129C>G)
n.4553C>G
c.2901C>G
n.2238C>G
c.3823C>G
c.1791C>G
n.9107C>G
c.9091C>G (p.Leu3031Val)
c.9013C>G (p.Leu3005Val)
c.6397C>G (p.Leu2133Val)
c.9115C>G (p.Leu3039Val)
c.9112C>G (p.Leu3038Val)
c.9034C>G (p.Leu3012Val)
c.9019C>G (p.Leu3007Val)
c.2233C>G (p.Leu745Val)
c.2212C>G (p.Leu738Val)
n.9110C>G
5g.90712338C>TCA360396229ADGRV1c.9094C>T (p.Leu3032Phe)
c.265+36129C>T (n.265+36129C>T)
n.4553C>T
c.2901C>T
n.2238C>T
c.3823C>T
c.1791C>T
n.9107C>T
c.9091C>T (p.Leu3031Phe)
c.9013C>T (p.Leu3005Phe)
c.6397C>T (p.Leu2133Phe)
c.9115C>T (p.Leu3039Phe)
c.9112C>T (p.Leu3038Phe)
c.9034C>T (p.Leu3012Phe)
c.9019C>T (p.Leu3007Phe)
c.2233C>T (p.Leu745Phe)
c.2212C>T (p.Leu738Phe)
n.9110C>T
COSMIC
5g.90712339T>ACA360396232ADGRV1c.9095T>A (p.Leu3032His)
c.265+36130T>A (n.265+36130T>A)
n.4554T>A
c.2902T>A
n.2239T>A
c.3824T>A
c.1792T>A
n.9108T>A
c.9092T>A (p.Leu3031His)
c.9014T>A (p.Leu3005His)
c.6398T>A (p.Leu2133His)
c.9116T>A (p.Leu3039His)
c.9113T>A (p.Leu3038His)
c.9035T>A (p.Leu3012His)
c.9020T>A (p.Leu3007His)
c.2234T>A (p.Leu745His)
c.2213T>A (p.Leu738His)
n.9111T>A
5g.90712339T>CCA360396230ADGRV1c.9095T>C (p.Leu3032Pro)
c.265+36130T>C (n.265+36130T>C)
n.4554T>C
c.2902T>C
n.2239T>C
c.3824T>C
c.1792T>C
n.9108T>C
c.9092T>C (p.Leu3031Pro)
c.9014T>C (p.Leu3005Pro)
c.6398T>C (p.Leu2133Pro)
c.9116T>C (p.Leu3039Pro)
c.9113T>C (p.Leu3038Pro)
c.9035T>C (p.Leu3012Pro)
c.9020T>C (p.Leu3007Pro)
c.2234T>C (p.Leu745Pro)
c.2213T>C (p.Leu738Pro)
n.9111T>C
gnomAD v4
5g.90712339T>GCA360396231ADGRV1c.9095T>G (p.Leu3032Arg)
c.265+36130T>G (n.265+36130T>G)
n.4554T>G
c.2902T>G
n.2239T>G
c.3824T>G
c.1792T>G
n.9108T>G
c.9092T>G (p.Leu3031Arg)
c.9014T>G (p.Leu3005Arg)
c.6398T>G (p.Leu2133Arg)
c.9116T>G (p.Leu3039Arg)
c.9113T>G (p.Leu3038Arg)
c.9035T>G (p.Leu3012Arg)
c.9020T>G (p.Leu3007Arg)
c.2234T>G (p.Leu745Arg)
c.2213T>G (p.Leu738Arg)
n.9111T>G
dbSNP
5g.90712340delCA2674570097ADGRV1c.9096del (p.Asp3033MetfsTer13)
c.265+36131del (n.265+36131del)
n.4555del
c.2903del
n.2240del
c.3825del
c.1793del
n.9109del
c.9093del (p.Asp3032MetfsTer13)
c.9015del (p.Asp3006MetfsTer13)
c.6399del (p.Asp2134MetfsTer13)
c.9117del (p.Asp3040MetfsTer13)
c.9114del (p.Asp3039MetfsTer13)
c.9036del (p.Asp3013MetfsTer13)
c.9021del (p.Asp3008MetfsTer13)
c.2235del (p.Asp746MetfsTer13)
c.2214del (p.Asp739MetfsTer13)
n.9112del
gnomAD v4
5g.90712340T>ACA445411871ADGRV1c.9096T>A (p.Leu3032=)
c.265+36131T>A (n.265+36131T>A)
n.4555T>A
c.2903T>A
n.2240T>A
c.3825T>A
c.1793T>A
n.9109T>A
c.9093T>A (p.Leu3031=)
c.9015T>A (p.Leu3005=)
c.6399T>A (p.Leu2133=)
c.9117T>A (p.Leu3039=)
c.9114T>A (p.Leu3038=)
c.9036T>A (p.Leu3012=)
c.9021T>A (p.Leu3007=)
c.2235T>A (p.Leu745=)
c.2214T>A (p.Leu738=)
n.9112T>A
5g.90712340T>CCA445411867ADGRV1c.9096T>C (p.Leu3032=)
c.265+36131T>C (n.265+36131T>C)
n.4555T>C
c.2903T>C
n.2240T>C
c.3825T>C
c.1793T>C
n.9109T>C
c.9093T>C (p.Leu3031=)
c.9015T>C (p.Leu3005=)
c.6399T>C (p.Leu2133=)
c.9117T>C (p.Leu3039=)
c.9114T>C (p.Leu3038=)
c.9036T>C (p.Leu3012=)
c.9021T>C (p.Leu3007=)
c.2235T>C (p.Leu745=)
c.2214T>C (p.Leu738=)
n.9112T>C
gnomAD v4
5g.90712340T>GCA445411869ADGRV1c.9096T>G (p.Leu3032=)
c.265+36131T>G (n.265+36131T>G)
n.4555T>G
c.2903T>G
n.2240T>G
c.3825T>G
c.1793T>G
n.9109T>G
c.9093T>G (p.Leu3031=)
c.9015T>G (p.Leu3005=)
c.6399T>G (p.Leu2133=)
c.9117T>G (p.Leu3039=)
c.9114T>G (p.Leu3038=)
c.9036T>G (p.Leu3012=)
c.9021T>G (p.Leu3007=)
c.2235T>G (p.Leu745=)
c.2214T>G (p.Leu738=)
n.9112T>G
gnomAD v4
5g.90712341G>ACA360396233ADGRV1c.9097G>A (p.Asp3033Asn)
c.265+36132G>A (n.265+36132G>A)
n.4556G>A
c.2904G>A
n.2241G>A
c.3826G>A
c.1794G>A
n.9110G>A
c.9094G>A (p.Asp3032Asn)
c.9016G>A (p.Asp3006Asn)
c.6400G>A (p.Asp2134Asn)
c.9118G>A (p.Asp3040Asn)
c.9115G>A (p.Asp3039Asn)
c.9037G>A (p.Asp3013Asn)
c.9022G>A (p.Asp3008Asn)
c.2236G>A (p.Asp746Asn)
c.2215G>A (p.Asp739Asn)
n.9113G>A
gnomAD v4
5g.90712341G>CCA360396234ADGRV1c.9097G>C (p.Asp3033His)
c.265+36132G>C (n.265+36132G>C)
n.4556G>C
c.2904G>C
n.2241G>C
c.3826G>C
c.1794G>C
n.9110G>C
c.9094G>C (p.Asp3032His)
c.9016G>C (p.Asp3006His)
c.6400G>C (p.Asp2134His)
c.9118G>C (p.Asp3040His)
c.9115G>C (p.Asp3039His)
c.9037G>C (p.Asp3013His)
c.9022G>C (p.Asp3008His)
c.2236G>C (p.Asp746His)
c.2215G>C (p.Asp739His)
n.9113G>C
5g.90712341G>TCA360396235ADGRV1c.9097G>T (p.Asp3033Tyr)
c.265+36132G>T (n.265+36132G>T)
n.4556G>T
c.2904G>T
n.2241G>T
c.3826G>T
c.1794G>T
n.9110G>T
c.9094G>T (p.Asp3032Tyr)
c.9016G>T (p.Asp3006Tyr)
c.6400G>T (p.Asp2134Tyr)
c.9118G>T (p.Asp3040Tyr)
c.9115G>T (p.Asp3039Tyr)
c.9037G>T (p.Asp3013Tyr)
c.9022G>T (p.Asp3008Tyr)
c.2236G>T (p.Asp746Tyr)
c.2215G>T (p.Asp739Tyr)
n.9113G>T
gnomAD v4
5g.90712342A=CA1562867536ADGRV1c.9098A= (p.Asp3033=)
c.265+36133A= (n.265+36133A=)
n.4557A=
c.2905A=
n.2242A=
c.3827A=
c.1795A=
n.9111A=
c.9095A= (p.Asp3032=)
c.9017A= (p.Asp3006=)
c.6401A= (p.Asp2134=)
c.9119A= (p.Asp3040=)
c.9116A= (p.Asp3039=)
c.9038A= (p.Asp3013=)
c.9023A= (p.Asp3008=)
c.2237A= (p.Asp746=)
c.2216A= (p.Asp739=)
n.9114A=
5g.90712342A>CCA360396236ADGRV1c.9098A>C (p.Asp3033Ala)
c.265+36133A>C (n.265+36133A>C)
n.4557A>C
c.2905A>C
n.2242A>C
c.3827A>C
c.1795A>C
n.9111A>C
c.9095A>C (p.Asp3032Ala)
c.9017A>C (p.Asp3006Ala)
c.6401A>C (p.Asp2134Ala)
c.9119A>C (p.Asp3040Ala)
c.9116A>C (p.Asp3039Ala)
c.9038A>C (p.Asp3013Ala)
c.9023A>C (p.Asp3008Ala)
c.2237A>C (p.Asp746Ala)
c.2216A>C (p.Asp739Ala)
n.9114A>C
5g.90712342A>GCA3340443ADGRV1c.9098A>G (p.Asp3033Gly)
c.265+36133A>G (n.265+36133A>G)
n.4557A>G
c.2905A>G
n.2242A>G
c.3827A>G
c.1795A>G
n.9111A>G
c.9095A>G (p.Asp3032Gly)
c.9017A>G (p.Asp3006Gly)
c.6401A>G (p.Asp2134Gly)
c.9119A>G (p.Asp3040Gly)
c.9116A>G (p.Asp3039Gly)
c.9038A>G (p.Asp3013Gly)
c.9023A>G (p.Asp3008Gly)
c.2237A>G (p.Asp746Gly)
c.2216A>G (p.Asp739Gly)
n.9114A>G
dbSNP ExAC gnomAD v2 gnomAD v4
5g.90712342A>TCA360396237ADGRV1c.9098A>T (p.Asp3033Val)
c.265+36133A>T (n.265+36133A>T)
n.4557A>T
c.2905A>T
n.2242A>T
c.3827A>T
c.1795A>T
n.9111A>T
c.9095A>T (p.Asp3032Val)
c.9017A>T (p.Asp3006Val)
c.6401A>T (p.Asp2134Val)
c.9119A>T (p.Asp3040Val)
c.9116A>T (p.Asp3039Val)
c.9038A>T (p.Asp3013Val)
c.9023A>T (p.Asp3008Val)
c.2237A>T (p.Asp746Val)
c.2216A>T (p.Asp739Val)
n.9114A>T
5g.90712343T>ACA360396238ADGRV1c.9099T>A (p.Asp3033Glu)
c.265+36134T>A (n.265+36134T>A)
n.4558T>A
c.2906T>A
n.2243T>A
c.3828T>A
c.1796T>A
n.9112T>A
c.9096T>A (p.Asp3032Glu)
c.9018T>A (p.Asp3006Glu)
c.6402T>A (p.Asp2134Glu)
c.9120T>A (p.Asp3040Glu)
c.9117T>A (p.Asp3039Glu)
c.9039T>A (p.Asp3013Glu)
c.9024T>A (p.Asp3008Glu)
c.2238T>A (p.Asp746Glu)
c.2217T>A (p.Asp739Glu)
n.9115T>A
5g.90712343T>CCA445411879ADGRV1c.9099T>C (p.Asp3033=)
c.265+36134T>C (n.265+36134T>C)
n.4558T>C
c.2906T>C
n.2243T>C
c.3828T>C
c.1796T>C
n.9112T>C
c.9096T>C (p.Asp3032=)
c.9018T>C (p.Asp3006=)
c.6402T>C (p.Asp2134=)
c.9120T>C (p.Asp3040=)
c.9117T>C (p.Asp3039=)
c.9039T>C (p.Asp3013=)
c.9024T>C (p.Asp3008=)
c.2238T>C (p.Asp746=)
c.2217T>C (p.Asp739=)
n.9115T>C
5g.90712343T>GCA360396239ADGRV1c.9099T>G (p.Asp3033Glu)
c.265+36134T>G (n.265+36134T>G)
n.4558T>G
c.2906T>G
n.2243T>G
c.3828T>G
c.1796T>G
n.9112T>G
c.9096T>G (p.Asp3032Glu)
c.9018T>G (p.Asp3006Glu)
c.6402T>G (p.Asp2134Glu)
c.9120T>G (p.Asp3040Glu)
c.9117T>G (p.Asp3039Glu)
c.9039T>G (p.Asp3013Glu)
c.9024T>G (p.Asp3008Glu)
c.2238T>G (p.Asp746Glu)
c.2217T>G (p.Asp739Glu)
n.9115T>G
5g.90712344G>ACA360396240ADGRV1c.9100G>A (p.Asp3034Asn)
c.265+36135G>A (n.265+36135G>A)
n.4559G>A
c.2907G>A
n.2244G>A
c.3829G>A
c.1797G>A
n.9113G>A
c.9097G>A (p.Asp3033Asn)
c.9019G>A (p.Asp3007Asn)
c.6403G>A (p.Asp2135Asn)
c.9121G>A (p.Asp3041Asn)
c.9118G>A (p.Asp3040Asn)
c.9040G>A (p.Asp3014Asn)
c.9025G>A (p.Asp3009Asn)
c.2239G>A (p.Asp747Asn)
c.2218G>A (p.Asp740Asn)
n.9116G>A
5g.90712344G>CCA360396241ADGRV1c.9100G>C (p.Asp3034His)
c.265+36135G>C (n.265+36135G>C)
n.4559G>C
c.2907G>C
n.2244G>C
c.3829G>C
c.1797G>C
n.9113G>C
c.9097G>C (p.Asp3033His)
c.9019G>C (p.Asp3007His)
c.6403G>C (p.Asp2135His)
c.9121G>C (p.Asp3041His)
c.9118G>C (p.Asp3040His)
c.9040G>C (p.Asp3014His)
c.9025G>C (p.Asp3009His)
c.2239G>C (p.Asp747His)
c.2218G>C (p.Asp740His)
n.9116G>C
5g.90712344G>TCA360396242ADGRV1c.9100G>T (p.Asp3034Tyr)
c.265+36135G>T (n.265+36135G>T)
n.4559G>T
c.2907G>T
n.2244G>T
c.3829G>T
c.1797G>T
n.9113G>T
c.9097G>T (p.Asp3033Tyr)
c.9019G>T (p.Asp3007Tyr)
c.6403G>T (p.Asp2135Tyr)
c.9121G>T (p.Asp3041Tyr)
c.9118G>T (p.Asp3040Tyr)
c.9040G>T (p.Asp3014Tyr)
c.9025G>T (p.Asp3009Tyr)
c.2239G>T (p.Asp747Tyr)
c.2218G>T (p.Asp740Tyr)
n.9116G>T
5g.90712345A=CA1562867537ADGRV1c.9101A= (p.Asp3034=)
c.265+36136A= (n.265+36136A=)
n.4560A=
c.2908A=
n.2245A=
c.3830A=
c.1798A=
n.9114A=
c.9098A= (p.Asp3033=)
c.9020A= (p.Asp3007=)
c.6404A= (p.Asp2135=)
c.9122A= (p.Asp3041=)
c.9119A= (p.Asp3040=)
c.9041A= (p.Asp3014=)
c.9026A= (p.Asp3009=)
c.2240A= (p.Asp747=)
c.2219A= (p.Asp740=)
n.9117A=
5g.90712345A>CCA360396245ADGRV1c.9101A>C (p.Asp3034Ala)
c.265+36136A>C (n.265+36136A>C)
n.4560A>C
c.2908A>C
n.2245A>C
c.3830A>C
c.1798A>C
n.9114A>C
c.9098A>C (p.Asp3033Ala)
c.9020A>C (p.Asp3007Ala)
c.6404A>C (p.Asp2135Ala)
c.9122A>C (p.Asp3041Ala)
c.9119A>C (p.Asp3040Ala)
c.9041A>C (p.Asp3014Ala)
c.9026A>C (p.Asp3009Ala)
c.2240A>C (p.Asp747Ala)
c.2219A>C (p.Asp740Ala)
n.9117A>C
5g.90712345A>GCA360396244ADGRV1c.9101A>G (p.Asp3034Gly)
c.265+36136A>G (n.265+36136A>G)
n.4560A>G
c.2908A>G
n.2245A>G
c.3830A>G
c.1798A>G
n.9114A>G
c.9098A>G (p.Asp3033Gly)
c.9020A>G (p.Asp3007Gly)
c.6404A>G (p.Asp2135Gly)
c.9122A>G (p.Asp3041Gly)
c.9119A>G (p.Asp3040Gly)
c.9041A>G (p.Asp3014Gly)
c.9026A>G (p.Asp3009Gly)
c.2240A>G (p.Asp747Gly)
c.2219A>G (p.Asp740Gly)
n.9117A>G
5g.90712345A>TCA360396243ADGRV1c.9101A>T (p.Asp3034Val)
c.265+36136A>T (n.265+36136A>T)
n.4560A>T
c.2908A>T
n.2245A>T
c.3830A>T
c.1798A>T
n.9114A>T
c.9098A>T (p.Asp3033Val)
c.9020A>T (p.Asp3007Val)
c.6404A>T (p.Asp2135Val)
c.9122A>T (p.Asp3041Val)
c.9119A>T (p.Asp3040Val)
c.9041A>T (p.Asp3014Val)
c.9026A>T (p.Asp3009Val)
c.2240A>T (p.Asp747Val)
c.2219A>T (p.Asp740Val)
n.9117A>T
dbSNP gnomAD v2
5g.90712346T>ACA360396246ADGRV1c.9102T>A (p.Asp3034Glu)
c.265+36137T>A (n.265+36137T>A)
n.4561T>A
c.2909T>A
n.2246T>A
c.3831T>A
c.1799T>A
n.9115T>A
c.9099T>A (p.Asp3033Glu)
c.9021T>A (p.Asp3007Glu)
c.6405T>A (p.Asp2135Glu)
c.9123T>A (p.Asp3041Glu)
c.9120T>A (p.Asp3040Glu)
c.9042T>A (p.Asp3014Glu)
c.9027T>A (p.Asp3009Glu)
c.2241T>A (p.Asp747Glu)
c.2220T>A (p.Asp740Glu)
n.9118T>A
gnomAD v4
5g.90712346T>CCA122804756ADGRV1c.9102T>C (p.Asp3034=)
c.265+36137T>C (n.265+36137T>C)
n.4561T>C
c.2909T>C
n.2246T>C
c.3831T>C
c.1799T>C
n.9115T>C
c.9099T>C (p.Asp3033=)
c.9021T>C (p.Asp3007=)
c.6405T>C (p.Asp2135=)
c.9123T>C (p.Asp3041=)
c.9120T>C (p.Asp3040=)
c.9042T>C (p.Asp3014=)
c.9027T>C (p.Asp3009=)
c.2241T>C (p.Asp747=)
c.2220T>C (p.Asp740=)
n.9118T>C
dbSNP
5g.90712346T>GCA360396247ADGRV1c.9102T>G (p.Asp3034Glu)
c.265+36137T>G (n.265+36137T>G)
n.4561T>G
c.2909T>G
n.2246T>G
c.3831T>G
c.1799T>G
n.9115T>G
c.9099T>G (p.Asp3033Glu)
c.9021T>G (p.Asp3007Glu)
c.6405T>G (p.Asp2135Glu)
c.9123T>G (p.Asp3041Glu)
c.9120T>G (p.Asp3040Glu)
c.9042T>G (p.Asp3014Glu)
c.9027T>G (p.Asp3009Glu)
c.2241T>G (p.Asp747Glu)
c.2220T>G (p.Asp740Glu)
n.9118T>G
5g.90712346T=CA1562867538ADGRV1c.9102T= (p.Asp3034=)
c.265+36137T= (n.265+36137T=)
n.4561T=
c.2909T=
n.2246T=
c.3831T=
c.1799T=
n.9115T=
c.9099T= (p.Asp3033=)
c.9021T= (p.Asp3007=)
c.6405T= (p.Asp2135=)
c.9123T= (p.Asp3041=)
c.9120T= (p.Asp3040=)
c.9042T= (p.Asp3014=)
c.9027T= (p.Asp3009=)
c.2241T= (p.Asp747=)
c.2220T= (p.Asp740=)
n.9118T=
5g.90712347G>ACA360396248ADGRV1c.9103G>A (p.Asp3035Asn)
c.265+36138G>A (n.265+36138G>A)
n.4562G>A
c.2910G>A
n.2247G>A
c.3832G>A
c.1800G>A
n.9116G>A
c.9100G>A (p.Asp3034Asn)
c.9022G>A (p.Asp3008Asn)
c.6406G>A (p.Asp2136Asn)
c.9124G>A (p.Asp3042Asn)
c.9121G>A (p.Asp3041Asn)
c.9043G>A (p.Asp3015Asn)
c.9028G>A (p.Asp3010Asn)
c.2242G>A (p.Asp748Asn)
c.2221G>A (p.Asp741Asn)
n.9119G>A
gnomAD v4
5g.90712347G>CCA360396250ADGRV1c.9103G>C (p.Asp3035His)
c.265+36138G>C (n.265+36138G>C)
n.4562G>C
c.2910G>C
n.2247G>C
c.3832G>C
c.1800G>C
n.9116G>C
c.9100G>C (p.Asp3034His)
c.9022G>C (p.Asp3008His)
c.6406G>C (p.Asp2136His)
c.9124G>C (p.Asp3042His)
c.9121G>C (p.Asp3041His)
c.9043G>C (p.Asp3015His)
c.9028G>C (p.Asp3010His)
c.2242G>C (p.Asp748His)
c.2221G>C (p.Asp741His)
n.9119G>C
5g.90712347G>TCA360396249ADGRV1c.9103G>T (p.Asp3035Tyr)
c.265+36138G>T (n.265+36138G>T)
n.4562G>T
c.2910G>T
n.2247G>T
c.3832G>T
c.1800G>T
n.9116G>T
c.9100G>T (p.Asp3034Tyr)
c.9022G>T (p.Asp3008Tyr)
c.6406G>T (p.Asp2136Tyr)
c.9124G>T (p.Asp3042Tyr)
c.9121G>T (p.Asp3041Tyr)
c.9043G>T (p.Asp3015Tyr)
c.9028G>T (p.Asp3010Tyr)
c.2242G>T (p.Asp748Tyr)
c.2221G>T (p.Asp741Tyr)
n.9119G>T
gnomAD v4
5g.90712348A>CCA360396251ADGRV1c.9104A>C (p.Asp3035Ala)
c.265+36139A>C (n.265+36139A>C)
n.4563A>C
c.2911A>C
n.2248A>C
c.3833A>C
c.1801A>C
n.9117A>C
c.9101A>C (p.Asp3034Ala)
c.9023A>C (p.Asp3008Ala)
c.6407A>C (p.Asp2136Ala)
c.9125A>C (p.Asp3042Ala)
c.9122A>C (p.Asp3041Ala)
c.9044A>C (p.Asp3015Ala)
c.9029A>C (p.Asp3010Ala)
c.2243A>C (p.Asp748Ala)
c.2222A>C (p.Asp741Ala)
n.9120A>C
5g.90712348A>GCA360396253ADGRV1c.9104A>G (p.Asp3035Gly)
c.265+36139A>G (n.265+36139A>G)
n.4563A>G
c.2911A>G
n.2248A>G
c.3833A>G
c.1801A>G
n.9117A>G
c.9101A>G (p.Asp3034Gly)
c.9023A>G (p.Asp3008Gly)
c.6407A>G (p.Asp2136Gly)
c.9125A>G (p.Asp3042Gly)
c.9122A>G (p.Asp3041Gly)
c.9044A>G (p.Asp3015Gly)
c.9029A>G (p.Asp3010Gly)
c.2243A>G (p.Asp748Gly)
c.2222A>G (p.Asp741Gly)
n.9120A>G
gnomAD v4
5g.90712348A>TCA360396252ADGRV1c.9104A>T (p.Asp3035Val)
c.265+36139A>T (n.265+36139A>T)
n.4563A>T
c.2911A>T
n.2248A>T
c.3833A>T
c.1801A>T
n.9117A>T
c.9101A>T (p.Asp3034Val)
c.9023A>T (p.Asp3008Val)
c.6407A>T (p.Asp2136Val)
c.9125A>T (p.Asp3042Val)
c.9122A>T (p.Asp3041Val)
c.9044A>T (p.Asp3015Val)
c.9029A>T (p.Asp3010Val)
c.2243A>T (p.Asp748Val)
c.2222A>T (p.Asp741Val)
n.9120A>T
5g.90712349C>ACA360396254ADGRV1c.9105C>A (p.Asp3035Glu)
c.265+36140C>A (n.265+36140C>A)
n.4564C>A
c.2912C>A
n.2249C>A
c.3834C>A
c.1802C>A
n.9118C>A
c.9102C>A (p.Asp3034Glu)
c.9024C>A (p.Asp3008Glu)
c.6408C>A (p.Asp2136Glu)
c.9126C>A (p.Asp3042Glu)
c.9123C>A (p.Asp3041Glu)
c.9045C>A (p.Asp3015Glu)
c.9030C>A (p.Asp3010Glu)
c.2244C>A (p.Asp748Glu)
c.2223C>A (p.Asp741Glu)
n.9121C>A
5g.90712349C>GCA360396255ADGRV1c.9105C>G (p.Asp3035Glu)
c.265+36140C>G (n.265+36140C>G)
n.4564C>G
c.2912C>G
n.2249C>G
c.3834C>G
c.1802C>G
n.9118C>G
c.9102C>G (p.Asp3034Glu)
c.9024C>G (p.Asp3008Glu)
c.6408C>G (p.Asp2136Glu)
c.9126C>G (p.Asp3042Glu)
c.9123C>G (p.Asp3041Glu)
c.9045C>G (p.Asp3015Glu)
c.9030C>G (p.Asp3010Glu)
c.2244C>G (p.Asp748Glu)
c.2223C>G (p.Asp741Glu)
n.9121C>G
5g.90712349C>TCA445411896ADGRV1c.9105C>T (p.Asp3035=)
c.265+36140C>T (n.265+36140C>T)
n.4564C>T
c.2912C>T
n.2249C>T
c.3834C>T
c.1802C>T
n.9118C>T
c.9102C>T (p.Asp3034=)
c.9024C>T (p.Asp3008=)
c.6408C>T (p.Asp2136=)
c.9126C>T (p.Asp3042=)
c.9123C>T (p.Asp3041=)
c.9045C>T (p.Asp3015=)
c.9030C>T (p.Asp3010=)
c.2244C>T (p.Asp748=)
c.2223C>T (p.Asp741=)
n.9121C>T
dbSNP gnomAD v4
5g.90712350A>CCA360396256ADGRV1c.9106A>C (p.Ile3036Leu)
c.265+36141A>C (n.265+36141A>C)
n.4565A>C
c.2913A>C
n.2250A>C
c.3835A>C
c.1803A>C
n.9119A>C
c.9103A>C (p.Ile3035Leu)
c.9025A>C (p.Ile3009Leu)
c.6409A>C (p.Ile2137Leu)
c.9127A>C (p.Ile3043Leu)
c.9124A>C (p.Ile3042Leu)
c.9046A>C (p.Ile3016Leu)
c.9031A>C (p.Ile3011Leu)
c.2245A>C (p.Ile749Leu)
c.2224A>C (p.Ile742Leu)
n.9122A>C
5g.90712350A>GCA360396258ADGRV1c.9106A>G (p.Ile3036Val)
c.265+36141A>G (n.265+36141A>G)
n.4565A>G
c.2913A>G
n.2250A>G
c.3835A>G
c.1803A>G
n.9119A>G
c.9103A>G (p.Ile3035Val)
c.9025A>G (p.Ile3009Val)
c.6409A>G (p.Ile2137Val)
c.9127A>G (p.Ile3043Val)
c.9124A>G (p.Ile3042Val)
c.9046A>G (p.Ile3016Val)
c.9031A>G (p.Ile3011Val)
c.2245A>G (p.Ile749Val)
c.2224A>G (p.Ile742Val)
n.9122A>G
5g.90712350A>TCA360396257ADGRV1c.9106A>T (p.Ile3036Phe)
c.265+36141A>T (n.265+36141A>T)
n.4565A>T
c.2913A>T
n.2250A>T
c.3835A>T
c.1803A>T
n.9119A>T
c.9103A>T (p.Ile3035Phe)
c.9025A>T (p.Ile3009Phe)
c.6409A>T (p.Ile2137Phe)
c.9127A>T (p.Ile3043Phe)
c.9124A>T (p.Ile3042Phe)
c.9046A>T (p.Ile3016Phe)
c.9031A>T (p.Ile3011Phe)
c.2245A>T (p.Ile749Phe)
c.2224A>T (p.Ile742Phe)
n.9122A>T
5g.90712351T>ACA360396259ADGRV1c.9107T>A (p.Ile3036Asn)
c.265+36142T>A (n.265+36142T>A)
n.4566T>A
c.2914T>A
n.2251T>A
c.3836T>A
c.1804T>A
n.9120T>A
c.9104T>A (p.Ile3035Asn)
c.9026T>A (p.Ile3009Asn)
c.6410T>A (p.Ile2137Asn)
c.9128T>A (p.Ile3043Asn)
c.9125T>A (p.Ile3042Asn)
c.9047T>A (p.Ile3016Asn)
c.9032T>A (p.Ile3011Asn)
c.2246T>A (p.Ile749Asn)
c.2225T>A (p.Ile742Asn)
n.9123T>A
5g.90712351T>CCA360396261ADGRV1c.9107T>C (p.Ile3036Thr)
c.265+36142T>C (n.265+36142T>C)
n.4566T>C
c.2914T>C
n.2251T>C
c.3836T>C
c.1804T>C
n.9120T>C
c.9104T>C (p.Ile3035Thr)
c.9026T>C (p.Ile3009Thr)
c.6410T>C (p.Ile2137Thr)
c.9128T>C (p.Ile3043Thr)
c.9125T>C (p.Ile3042Thr)
c.9047T>C (p.Ile3016Thr)
c.9032T>C (p.Ile3011Thr)
c.2246T>C (p.Ile749Thr)
c.2225T>C (p.Ile742Thr)
n.9123T>C
5g.90712351T>GCA360396260ADGRV1c.9107T>G (p.Ile3036Ser)
c.265+36142T>G (n.265+36142T>G)
n.4566T>G
c.2914T>G
n.2251T>G
c.3836T>G
c.1804T>G
n.9120T>G
c.9104T>G (p.Ile3035Ser)
c.9026T>G (p.Ile3009Ser)
c.6410T>G (p.Ile2137Ser)
c.9128T>G (p.Ile3043Ser)
c.9125T>G (p.Ile3042Ser)
c.9047T>G (p.Ile3016Ser)
c.9032T>G (p.Ile3011Ser)
c.2246T>G (p.Ile749Ser)
c.2225T>G (p.Ile742Ser)
n.9123T>G
5g.90712352T>ACA445411903ADGRV1c.9108T>A (p.Ile3036=)
c.265+36143T>A (n.265+36143T>A)
n.4567T>A
c.2915T>A
n.2252T>A
c.3837T>A
c.1805T>A
n.9121T>A
c.9105T>A (p.Ile3035=)
c.9027T>A (p.Ile3009=)
c.6411T>A (p.Ile2137=)
c.9129T>A (p.Ile3043=)
c.9126T>A (p.Ile3042=)
c.9048T>A (p.Ile3016=)
c.9033T>A (p.Ile3011=)
c.2247T>A (p.Ile749=)
c.2226T>A (p.Ile742=)
n.9124T>A
5g.90712352T>CCA445411905ADGRV1c.9108T>C (p.Ile3036=)
c.265+36143T>C (n.265+36143T>C)
n.4567T>C
c.2915T>C
n.2252T>C
c.3837T>C
c.1805T>C
n.9121T>C
c.9105T>C (p.Ile3035=)
c.9027T>C (p.Ile3009=)
c.6411T>C (p.Ile2137=)
c.9129T>C (p.Ile3043=)
c.9126T>C (p.Ile3042=)
c.9048T>C (p.Ile3016=)
c.9033T>C (p.Ile3011=)
c.2247T>C (p.Ile749=)
c.2226T>C (p.Ile742=)
n.9124T>C
5g.90712352T>GCA360396262ADGRV1c.9108T>G (p.Ile3036Met)
c.265+36143T>G (n.265+36143T>G)
n.4567T>G
c.2915T>G
n.2252T>G
c.3837T>G
c.1805T>G
n.9121T>G
c.9105T>G (p.Ile3035Met)
c.9027T>G (p.Ile3009Met)
c.6411T>G (p.Ile2137Met)
c.9129T>G (p.Ile3043Met)
c.9126T>G (p.Ile3042Met)
c.9048T>G (p.Ile3016Met)
c.9033T>G (p.Ile3011Met)
c.2247T>G (p.Ile749Met)
c.2226T>G (p.Ile742Met)
n.9124T>G
gnomAD v4
5g.90712353C>ACA360396265ADGRV1c.9109C>A (p.Pro3037Thr)
c.265+36144C>A (n.265+36144C>A)
n.4568C>A
c.2916C>A
n.2253C>A
c.3838C>A
c.1806C>A
n.9122C>A
c.9106C>A (p.Pro3036Thr)
c.9028C>A (p.Pro3010Thr)
c.6412C>A (p.Pro2138Thr)
c.9130C>A (p.Pro3044Thr)
c.9127C>A (p.Pro3043Thr)
c.9049C>A (p.Pro3017Thr)
c.9034C>A (p.Pro3012Thr)
c.2248C>A (p.Pro750Thr)
c.2227C>A (p.Pro743Thr)
n.9125C>A
gnomAD v4
5g.90712353C>GCA360396263ADGRV1c.9109C>G (p.Pro3037Ala)
c.265+36144C>G (n.265+36144C>G)
n.4568C>G
c.2916C>G
n.2253C>G
c.3838C>G
c.1806C>G
n.9122C>G
c.9106C>G (p.Pro3036Ala)
c.9028C>G (p.Pro3010Ala)
c.6412C>G (p.Pro2138Ala)
c.9130C>G (p.Pro3044Ala)
c.9127C>G (p.Pro3043Ala)
c.9049C>G (p.Pro3017Ala)
c.9034C>G (p.Pro3012Ala)
c.2248C>G (p.Pro750Ala)
c.2227C>G (p.Pro743Ala)
n.9125C>G
5g.90712353C>TCA360396264ADGRV1c.9109C>T (p.Pro3037Ser)
c.265+36144C>T (n.265+36144C>T)
n.4568C>T
c.2916C>T
n.2253C>T
c.3838C>T
c.1806C>T
n.9122C>T
c.9106C>T (p.Pro3036Ser)
c.9028C>T (p.Pro3010Ser)
c.6412C>T (p.Pro2138Ser)
c.9130C>T (p.Pro3044Ser)
c.9127C>T (p.Pro3043Ser)
c.9049C>T (p.Pro3017Ser)
c.9034C>T (p.Pro3012Ser)
c.2248C>T (p.Pro750Ser)
c.2227C>T (p.Pro743Ser)
n.9125C>T
COSMIC
5g.90712354C>ACA360396266ADGRV1c.9110C>A (p.Pro3037Gln)
c.265+36145C>A (n.265+36145C>A)
n.4569C>A
c.2917C>A
n.2254C>A
c.3839C>A
c.1807C>A
n.9123C>A
c.9107C>A (p.Pro3036Gln)
c.9029C>A (p.Pro3010Gln)
c.6413C>A (p.Pro2138Gln)
c.9131C>A (p.Pro3044Gln)
c.9128C>A (p.Pro3043Gln)
c.9050C>A (p.Pro3017Gln)
c.9035C>A (p.Pro3012Gln)
c.2249C>A (p.Pro750Gln)
c.2228C>A (p.Pro743Gln)
n.9126C>A
gnomAD v4
5g.90712354C=CA1562867539ADGRV1c.9110C= (p.Pro3037=)
c.265+36145C= (n.265+36145C=)
n.4569C=
c.2917C=
n.2254C=
c.3839C=
c.1807C=
n.9123C=
c.9107C= (p.Pro3036=)
c.9029C= (p.Pro3010=)
c.6413C= (p.Pro2138=)
c.9131C= (p.Pro3044=)
c.9128C= (p.Pro3043=)
c.9050C= (p.Pro3017=)
c.9035C= (p.Pro3012=)
c.2249C= (p.Pro750=)
c.2228C= (p.Pro743=)
n.9126C=
5g.90712354C>GCA360396267ADGRV1c.9110C>G (p.Pro3037Arg)
c.265+36145C>G (n.265+36145C>G)
n.4569C>G
c.2917C>G
n.2254C>G
c.3839C>G
c.1807C>G
n.9123C>G
c.9107C>G (p.Pro3036Arg)
c.9029C>G (p.Pro3010Arg)
c.6413C>G (p.Pro2138Arg)
c.9131C>G (p.Pro3044Arg)
c.9128C>G (p.Pro3043Arg)
c.9050C>G (p.Pro3017Arg)
c.9035C>G (p.Pro3012Arg)
c.2249C>G (p.Pro750Arg)
c.2228C>G (p.Pro743Arg)
n.9126C>G
5g.90712354C>TCA360396268ADGRV1c.9110C>T (p.Pro3037Leu)
c.265+36145C>T (n.265+36145C>T)
n.4569C>T
c.2917C>T
n.2254C>T
c.3839C>T
c.1807C>T
n.9123C>T
c.9107C>T (p.Pro3036Leu)
c.9029C>T (p.Pro3010Leu)
c.6413C>T (p.Pro2138Leu)
c.9131C>T (p.Pro3044Leu)
c.9128C>T (p.Pro3043Leu)
c.9050C>T (p.Pro3017Leu)
c.9035C>T (p.Pro3012Leu)
c.2249C>T (p.Pro750Leu)
c.2228C>T (p.Pro743Leu)
n.9126C>T
dbSNP gnomAD v3 gnomAD v4 COSMIC
5g.90712355A>CCA445411911ADGRV1c.9111A>C (p.Pro3037=)
c.265+36146A>C (n.265+36146A>C)
n.4570A>C
c.2918A>C
n.2255A>C
c.3840A>C
c.1808A>C
n.9124A>C
c.9108A>C (p.Pro3036=)
c.9030A>C (p.Pro3010=)
c.6414A>C (p.Pro2138=)
c.9132A>C (p.Pro3044=)
c.9129A>C (p.Pro3043=)
c.9051A>C (p.Pro3017=)
c.9036A>C (p.Pro3012=)
c.2250A>C (p.Pro750=)
c.2229A>C (p.Pro743=)
n.9127A>C
5g.90712355A>GCA445411913ADGRV1c.9111A>G (p.Pro3037=)
c.265+36146A>G (n.265+36146A>G)
n.4570A>G
c.2918A>G
n.2255A>G
c.3840A>G
c.1808A>G
n.9124A>G
c.9108A>G (p.Pro3036=)
c.9030A>G (p.Pro3010=)
c.6414A>G (p.Pro2138=)
c.9132A>G (p.Pro3044=)
c.9129A>G (p.Pro3043=)
c.9051A>G (p.Pro3017=)
c.9036A>G (p.Pro3012=)
c.2250A>G (p.Pro750=)
c.2229A>G (p.Pro743=)
n.9127A>G
ClinVar
5g.90712355A>TCA445411915ADGRV1c.9111A>T (p.Pro3037=)
c.265+36146A>T (n.265+36146A>T)
n.4570A>T
c.2918A>T
n.2255A>T
c.3840A>T
c.1808A>T
n.9124A>T
c.9108A>T (p.Pro3036=)
c.9030A>T (p.Pro3010=)
c.6414A>T (p.Pro2138=)
c.9132A>T (p.Pro3044=)
c.9129A>T (p.Pro3043=)
c.9051A>T (p.Pro3017=)
c.9036A>T (p.Pro3012=)
c.2250A>T (p.Pro750=)
c.2229A>T (p.Pro743=)
n.9127A>T
COSMIC
5g.90712356G>ACA360396269ADGRV1c.9112G>A (p.Glu3038Lys)
c.265+36147G>A (n.265+36147G>A)
n.4571G>A
c.2919G>A
n.2256G>A
c.3841G>A
c.1809G>A
n.9125G>A
c.9109G>A (p.Glu3037Lys)
c.9031G>A (p.Glu3011Lys)
c.6415G>A (p.Glu2139Lys)
c.9133G>A (p.Glu3045Lys)
c.9130G>A (p.Glu3044Lys)
c.9052G>A (p.Glu3018Lys)
c.9037G>A (p.Glu3013Lys)
c.2251G>A (p.Glu751Lys)
c.2230G>A (p.Glu744Lys)
n.9128G>A
5g.90712356G>CCA360396270ADGRV1c.9112G>C (p.Glu3038Gln)
c.265+36147G>C (n.265+36147G>C)
n.4571G>C
c.2919G>C
n.2256G>C
c.3841G>C
c.1809G>C
n.9125G>C
c.9109G>C (p.Glu3037Gln)
c.9031G>C (p.Glu3011Gln)
c.6415G>C (p.Glu2139Gln)
c.9133G>C (p.Glu3045Gln)
c.9130G>C (p.Glu3044Gln)
c.9052G>C (p.Glu3018Gln)
c.9037G>C (p.Glu3013Gln)
c.2251G>C (p.Glu751Gln)
c.2230G>C (p.Glu744Gln)
n.9128G>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.90712356G=CA1562867540ADGRV1c.9112G= (p.Glu3038=)
c.265+36147G= (n.265+36147G=)
n.4571G=
c.2919G=
n.2256G=
c.3841G=
c.1809G=
n.9125G=
c.9109G= (p.Glu3037=)
c.9031G= (p.Glu3011=)
c.6415G= (p.Glu2139=)
c.9133G= (p.Glu3045=)
c.9130G= (p.Glu3044=)
c.9052G= (p.Glu3018=)
c.9037G= (p.Glu3013=)
c.2251G= (p.Glu751=)
c.2230G= (p.Glu744=)
n.9128G=
5g.90712356G>TCA360396271ADGRV1c.9112G>T (p.Glu3038Ter)
c.265+36147G>T (n.265+36147G>T)
n.4571G>T
c.2919G>T
n.2256G>T
c.3841G>T
c.1809G>T
n.9125G>T
c.9109G>T (p.Glu3037Ter)
c.9031G>T (p.Glu3011Ter)
c.6415G>T (p.Glu2139Ter)
c.9133G>T (p.Glu3045Ter)
c.9130G>T (p.Glu3044Ter)
c.9052G>T (p.Glu3018Ter)
c.9037G>T (p.Glu3013Ter)
c.2251G>T (p.Glu751Ter)
c.2230G>T (p.Glu744Ter)
n.9128G>T
5g.90712357A>CCA360396272ADGRV1c.9113A>C (p.Glu3038Ala)
c.265+36148A>C (n.265+36148A>C)
n.4572A>C
c.2920A>C
n.2257A>C
c.3842A>C
c.1810A>C
n.9126A>C
c.9110A>C (p.Glu3037Ala)
c.9032A>C (p.Glu3011Ala)
c.6416A>C (p.Glu2139Ala)
c.9134A>C (p.Glu3045Ala)
c.9131A>C (p.Glu3044Ala)
c.9053A>C (p.Glu3018Ala)
c.9038A>C (p.Glu3013Ala)
c.2252A>C (p.Glu751Ala)
c.2231A>C (p.Glu744Ala)
n.9129A>C
5g.90712357A>GCA360396273ADGRV1c.9113A>G (p.Glu3038Gly)
c.265+36148A>G (n.265+36148A>G)
n.4572A>G
c.2920A>G
n.2257A>G
c.3842A>G
c.1810A>G
n.9126A>G
c.9110A>G (p.Glu3037Gly)
c.9032A>G (p.Glu3011Gly)
c.6416A>G (p.Glu2139Gly)
c.9134A>G (p.Glu3045Gly)
c.9131A>G (p.Glu3044Gly)
c.9053A>G (p.Glu3018Gly)
c.9038A>G (p.Glu3013Gly)
c.2252A>G (p.Glu751Gly)
c.2231A>G (p.Glu744Gly)
n.9129A>G
gnomAD v4
5g.90712357A>TCA360396274ADGRV1c.9113A>T (p.Glu3038Val)
c.265+36148A>T (n.265+36148A>T)
n.4572A>T
c.2920A>T
n.2257A>T
c.3842A>T
c.1810A>T
n.9126A>T
c.9110A>T (p.Glu3037Val)
c.9032A>T (p.Glu3011Val)
c.6416A>T (p.Glu2139Val)
c.9134A>T (p.Glu3045Val)
c.9131A>T (p.Glu3044Val)
c.9053A>T (p.Glu3018Val)
c.9038A>T (p.Glu3013Val)
c.2252A>T (p.Glu751Val)
c.2231A>T (p.Glu744Val)
n.9129A>T
5g.90712358A>CCA360396276ADGRV1c.9114A>C (p.Glu3038Asp)
c.265+36149A>C (n.265+36149A>C)
n.4573A>C
c.2921A>C
n.2258A>C
c.3843A>C
c.1811A>C
n.9127A>C
c.9111A>C (p.Glu3037Asp)
c.9033A>C (p.Glu3011Asp)
c.6417A>C (p.Glu2139Asp)
c.9135A>C (p.Glu3045Asp)
c.9132A>C (p.Glu3044Asp)
c.9054A>C (p.Glu3018Asp)
c.9039A>C (p.Glu3013Asp)
c.2253A>C (p.Glu751Asp)
c.2232A>C (p.Glu744Asp)
n.9130A>C
5g.90712358A>GCA445411922ADGRV1c.9114A>G (p.Glu3038=)
c.265+36149A>G (n.265+36149A>G)
n.4573A>G
c.2921A>G
n.2258A>G
c.3843A>G
c.1811A>G
n.9127A>G
c.9111A>G (p.Glu3037=)
c.9033A>G (p.Glu3011=)
c.6417A>G (p.Glu2139=)
c.9135A>G (p.Glu3045=)
c.9132A>G (p.Glu3044=)
c.9054A>G (p.Glu3018=)
c.9039A>G (p.Glu3013=)
c.2253A>G (p.Glu751=)
c.2232A>G (p.Glu744=)
n.9130A>G
gnomAD v4
5g.90712358A>TCA360396275ADGRV1c.9114A>T (p.Glu3038Asp)
c.265+36149A>T (n.265+36149A>T)
n.4573A>T
c.2921A>T
n.2258A>T
c.3843A>T
c.1811A>T
n.9127A>T
c.9111A>T (p.Glu3037Asp)
c.9033A>T (p.Glu3011Asp)
c.6417A>T (p.Glu2139Asp)
c.9135A>T (p.Glu3045Asp)
c.9132A>T (p.Glu3044Asp)
c.9054A>T (p.Glu3018Asp)
c.9039A>T (p.Glu3013Asp)
c.2253A>T (p.Glu751Asp)
c.2232A>T (p.Glu744Asp)
n.9130A>T
5g.90712359G>ACA3340444ADGRV1c.9115G>A (p.Gly3039Arg)
c.265+36150G>A (n.265+36150G>A)
n.4574G>A
c.2922G>A
n.2259G>A
c.3844G>A
c.1812G>A
n.9128G>A
c.9112G>A (p.Gly3038Arg)
c.9034G>A (p.Gly3012Arg)
c.6418G>A (p.Gly2140Arg)
c.9136G>A (p.Gly3046Arg)
c.9133G>A (p.Gly3045Arg)
c.9055G>A (p.Gly3019Arg)
c.9040G>A (p.Gly3014Arg)
c.2254G>A (p.Gly752Arg)
c.2233G>A (p.Gly745Arg)
n.9131G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90712359G>CCA360396277ADGRV1c.9115G>C (p.Gly3039Arg)
c.265+36150G>C (n.265+36150G>C)
n.4574G>C
c.2922G>C
n.2259G>C
c.3844G>C
c.1812G>C
n.9128G>C
c.9112G>C (p.Gly3038Arg)
c.9034G>C (p.Gly3012Arg)
c.6418G>C (p.Gly2140Arg)
c.9136G>C (p.Gly3046Arg)
c.9133G>C (p.Gly3045Arg)
c.9055G>C (p.Gly3019Arg)
c.9040G>C (p.Gly3014Arg)
c.2254G>C (p.Gly752Arg)
c.2233G>C (p.Gly745Arg)
n.9131G>C
5g.90712359G=CA1562867541ADGRV1c.9115G= (p.Gly3039=)
c.265+36150G= (n.265+36150G=)
n.4574G=
c.2922G=
n.2259G=
c.3844G=
c.1812G=
n.9128G=
c.9112G= (p.Gly3038=)
c.9034G= (p.Gly3012=)
c.6418G= (p.Gly2140=)
c.9136G= (p.Gly3046=)
c.9133G= (p.Gly3045=)
c.9055G= (p.Gly3019=)
c.9040G= (p.Gly3014=)
c.2254G= (p.Gly752=)
c.2233G= (p.Gly745=)
n.9131G=
5g.90712359G>TCA360396278ADGRV1c.9115G>T (p.Gly3039Ter)
c.265+36150G>T (n.265+36150G>T)
n.4574G>T
c.2922G>T
n.2259G>T
c.3844G>T
c.1812G>T
n.9128G>T
c.9112G>T (p.Gly3038Ter)
c.9034G>T (p.Gly3012Ter)
c.6418G>T (p.Gly2140Ter)
c.9136G>T (p.Gly3046Ter)
c.9133G>T (p.Gly3045Ter)
c.9055G>T (p.Gly3019Ter)
c.9040G>T (p.Gly3014Ter)
c.2254G>T (p.Gly752Ter)
c.2233G>T (p.Gly745Ter)
n.9131G>T
5g.90712360G>ACA360396279ADGRV1c.9116G>A (p.Gly3039Glu)
c.265+36151G>A (n.265+36151G>A)
n.4575G>A
c.2923G>A
n.2260G>A
c.3845G>A
c.1813G>A
n.9129G>A
c.9113G>A (p.Gly3038Glu)
c.9035G>A (p.Gly3012Glu)
c.6419G>A (p.Gly2140Glu)
c.9137G>A (p.Gly3046Glu)
c.9134G>A (p.Gly3045Glu)
c.9056G>A (p.Gly3019Glu)
c.9041G>A (p.Gly3014Glu)
c.2255G>A (p.Gly752Glu)
c.2234G>A (p.Gly745Glu)
n.9132G>A
COSMIC
5g.90712360G>CCA360396280ADGRV1c.9116G>C (p.Gly3039Ala)
c.265+36151G>C (n.265+36151G>C)
n.4575G>C
c.2923G>C
n.2260G>C
c.3845G>C
c.1813G>C
n.9129G>C
c.9113G>C (p.Gly3038Ala)
c.9035G>C (p.Gly3012Ala)
c.6419G>C (p.Gly2140Ala)
c.9137G>C (p.Gly3046Ala)
c.9134G>C (p.Gly3045Ala)
c.9056G>C (p.Gly3019Ala)
c.9041G>C (p.Gly3014Ala)
c.2255G>C (p.Gly752Ala)
c.2234G>C (p.Gly745Ala)
n.9132G>C
5g.90712360G>TCA360396281ADGRV1c.9116G>T (p.Gly3039Val)
c.265+36151G>T (n.265+36151G>T)
n.4575G>T
c.2923G>T
n.2260G>T
c.3845G>T
c.1813G>T
n.9129G>T
c.9113G>T (p.Gly3038Val)
c.9035G>T (p.Gly3012Val)
c.6419G>T (p.Gly2140Val)
c.9137G>T (p.Gly3046Val)
c.9134G>T (p.Gly3045Val)
c.9056G>T (p.Gly3019Val)
c.9041G>T (p.Gly3014Val)
c.2255G>T (p.Gly752Val)
c.2234G>T (p.Gly745Val)
n.9132G>T
gnomAD v4
5g.90712361A>CCA445411934ADGRV1c.9117A>C (p.Gly3039=)
c.265+36152A>C (n.265+36152A>C)
n.4576A>C
c.2924A>C
n.2261A>C
c.3846A>C
c.1814A>C
n.9130A>C
c.9114A>C (p.Gly3038=)
c.9036A>C (p.Gly3012=)
c.6420A>C (p.Gly2140=)
c.9138A>C (p.Gly3046=)
c.9135A>C (p.Gly3045=)
c.9057A>C (p.Gly3019=)
c.9042A>C (p.Gly3014=)
c.2256A>C (p.Gly752=)
c.2235A>C (p.Gly745=)
n.9133A>C
gnomAD v4
5g.90712361A>GCA445411932ADGRV1c.9117A>G (p.Gly3039=)
c.265+36152A>G (n.265+36152A>G)
n.4576A>G
c.2924A>G
n.2261A>G
c.3846A>G
c.1814A>G
n.9130A>G
c.9114A>G (p.Gly3038=)
c.9036A>G (p.Gly3012=)
c.6420A>G (p.Gly2140=)
c.9138A>G (p.Gly3046=)
c.9135A>G (p.Gly3045=)
c.9057A>G (p.Gly3019=)
c.9042A>G (p.Gly3014=)
c.2256A>G (p.Gly752=)
c.2235A>G (p.Gly745=)
n.9133A>G
gnomAD v4
5g.90712361A>TCA445411931ADGRV1c.9117A>T (p.Gly3039=)
c.265+36152A>T (n.265+36152A>T)
n.4576A>T
c.2924A>T
n.2261A>T
c.3846A>T
c.1814A>T
n.9130A>T
c.9114A>T (p.Gly3038=)
c.9036A>T (p.Gly3012=)
c.6420A>T (p.Gly2140=)
c.9138A>T (p.Gly3046=)
c.9135A>T (p.Gly3045=)
c.9057A>T (p.Gly3019=)
c.9042A>T (p.Gly3014=)
c.2256A>T (p.Gly752=)
c.2235A>T (p.Gly745=)
n.9133A>T
5g.90712362G>ACA3340445ADGRV1c.9118G>A (p.Asp3040Asn)
c.265+36153G>A (n.265+36153G>A)
n.4577G>A
c.2925G>A
n.2262G>A
c.3847G>A
c.1815G>A
n.9131G>A
c.9115G>A (p.Asp3039Asn)
c.9037G>A (p.Asp3013Asn)
c.6421G>A (p.Asp2141Asn)
c.9139G>A (p.Asp3047Asn)
c.9136G>A (p.Asp3046Asn)
c.9058G>A (p.Asp3020Asn)
c.9043G>A (p.Asp3015Asn)
c.2257G>A (p.Asp753Asn)
c.2236G>A (p.Asp746Asn)
n.9134G>A
dbSNP ExAC gnomAD v2 gnomAD v4
5g.90712362G>CCA360396282ADGRV1c.9118G>C (p.Asp3040His)
c.265+36153G>C (n.265+36153G>C)
n.4577G>C
c.2925G>C
n.2262G>C
c.3847G>C
c.1815G>C
n.9131G>C
c.9115G>C (p.Asp3039His)
c.9037G>C (p.Asp3013His)
c.6421G>C (p.Asp2141His)
c.9139G>C (p.Asp3047His)
c.9136G>C (p.Asp3046His)
c.9058G>C (p.Asp3020His)
c.9043G>C (p.Asp3015His)
c.2257G>C (p.Asp753His)
c.2236G>C (p.Asp746His)
n.9134G>C
5g.90712362G=CA1562867542ADGRV1c.9118G= (p.Asp3040=)
c.265+36153G= (n.265+36153G=)
n.4577G=
c.2925G=
n.2262G=
c.3847G=
c.1815G=
n.9131G=
c.9115G= (p.Asp3039=)
c.9037G= (p.Asp3013=)
c.6421G= (p.Asp2141=)
c.9139G= (p.Asp3047=)
c.9136G= (p.Asp3046=)
c.9058G= (p.Asp3020=)
c.9043G= (p.Asp3015=)
c.2257G= (p.Asp753=)
c.2236G= (p.Asp746=)
n.9134G=
5g.90712362G>TCA360396283ADGRV1c.9118G>T (p.Asp3040Tyr)
c.265+36153G>T (n.265+36153G>T)
n.4577G>T
c.2925G>T
n.2262G>T
c.3847G>T
c.1815G>T
n.9131G>T
c.9115G>T (p.Asp3039Tyr)
c.9037G>T (p.Asp3013Tyr)
c.6421G>T (p.Asp2141Tyr)
c.9139G>T (p.Asp3047Tyr)
c.9136G>T (p.Asp3046Tyr)
c.9058G>T (p.Asp3020Tyr)
c.9043G>T (p.Asp3015Tyr)
c.2257G>T (p.Asp753Tyr)
c.2236G>T (p.Asp746Tyr)
n.9134G>T
gnomAD v4
5g.90712363A>CCA360396284ADGRV1c.9119A>C (p.Asp3040Ala)
c.265+36154A>C (n.265+36154A>C)
n.4578A>C
c.2926A>C
n.2263A>C
c.3848A>C
c.1816A>C
n.9132A>C
c.9116A>C (p.Asp3039Ala)
c.9038A>C (p.Asp3013Ala)
c.6422A>C (p.Asp2141Ala)
c.9140A>C (p.Asp3047Ala)
c.9137A>C (p.Asp3046Ala)
c.9059A>C (p.Asp3020Ala)
c.9044A>C (p.Asp3015Ala)
c.2258A>C (p.Asp753Ala)
c.2237A>C (p.Asp746Ala)
n.9135A>C
5g.90712363A>GCA360396285ADGRV1c.9119A>G (p.Asp3040Gly)
c.265+36154A>G (n.265+36154A>G)
n.4578A>G
c.2926A>G
n.2263A>G
c.3848A>G
c.1816A>G
n.9132A>G
c.9116A>G (p.Asp3039Gly)
c.9038A>G (p.Asp3013Gly)
c.6422A>G (p.Asp2141Gly)
c.9140A>G (p.Asp3047Gly)
c.9137A>G (p.Asp3046Gly)
c.9059A>G (p.Asp3020Gly)
c.9044A>G (p.Asp3015Gly)
c.2258A>G (p.Asp753Gly)
c.2237A>G (p.Asp746Gly)
n.9135A>G
gnomAD v4
5g.90712363A>TCA360396286ADGRV1c.9119A>T (p.Asp3040Val)
c.265+36154A>T (n.265+36154A>T)
n.4578A>T
c.2926A>T
n.2263A>T
c.3848A>T
c.1816A>T
n.9132A>T
c.9116A>T (p.Asp3039Val)
c.9038A>T (p.Asp3013Val)
c.6422A>T (p.Asp2141Val)
c.9140A>T (p.Asp3047Val)
c.9137A>T (p.Asp3046Val)
c.9059A>T (p.Asp3020Val)
c.9044A>T (p.Asp3015Val)
c.2258A>T (p.Asp753Val)
c.2237A>T (p.Asp746Val)
n.9135A>T
5g.90712364T>ACA360396287ADGRV1c.9120T>A (p.Asp3040Glu)
c.265+36155T>A (n.265+36155T>A)
n.4579T>A
c.2927T>A
n.2264T>A
c.3849T>A
c.1817T>A
n.9133T>A
c.9117T>A (p.Asp3039Glu)
c.9039T>A (p.Asp3013Glu)
c.6423T>A (p.Asp2141Glu)
c.9141T>A (p.Asp3047Glu)
c.9138T>A (p.Asp3046Glu)
c.9060T>A (p.Asp3020Glu)
c.9045T>A (p.Asp3015Glu)
c.2259T>A (p.Asp753Glu)
c.2238T>A (p.Asp746Glu)
n.9136T>A
5g.90712364T>CCA445411941ADGRV1c.9120T>C (p.Asp3040=)
c.265+36155T>C (n.265+36155T>C)
n.4579T>C
c.2927T>C
n.2264T>C
c.3849T>C
c.1817T>C
n.9133T>C
c.9117T>C (p.Asp3039=)
c.9039T>C (p.Asp3013=)
c.6423T>C (p.Asp2141=)
c.9141T>C (p.Asp3047=)
c.9138T>C (p.Asp3046=)
c.9060T>C (p.Asp3020=)
c.9045T>C (p.Asp3015=)
c.2259T>C (p.Asp753=)
c.2238T>C (p.Asp746=)
n.9136T>C
ClinVar
5g.90712364T>GCA3340446ADGRV1c.9120T>G (p.Asp3040Glu)
c.265+36155T>G (n.265+36155T>G)
n.4579T>G
c.2927T>G
n.2264T>G
c.3849T>G
c.1817T>G
n.9133T>G
c.9117T>G (p.Asp3039Glu)
c.9039T>G (p.Asp3013Glu)
c.6423T>G (p.Asp2141Glu)
c.9141T>G (p.Asp3047Glu)
c.9138T>G (p.Asp3046Glu)
c.9060T>G (p.Asp3020Glu)
c.9045T>G (p.Asp3015Glu)
c.2259T>G (p.Asp753Glu)
c.2238T>G (p.Asp746Glu)
n.9136T>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90712364T=CA1562867543ADGRV1c.9120T= (p.Asp3040=)
c.265+36155T= (n.265+36155T=)
n.4579T=
c.2927T=
n.2264T=
c.3849T=
c.1817T=
n.9133T=
c.9117T= (p.Asp3039=)
c.9039T= (p.Asp3013=)
c.6423T= (p.Asp2141=)
c.9141T= (p.Asp3047=)
c.9138T= (p.Asp3046=)
c.9060T= (p.Asp3020=)
c.9045T= (p.Asp3015=)
c.2259T= (p.Asp753=)
c.2238T= (p.Asp746=)
n.9136T=
5g.90712365G>ACA360396288ADGRV1c.9121G>A (p.Glu3041Lys)
c.265+36156G>A (n.265+36156G>A)
n.4580G>A
c.2928G>A
n.2265G>A
c.3850G>A
c.1818G>A
n.9134G>A
c.9118G>A (p.Glu3040Lys)
c.9040G>A (p.Glu3014Lys)
c.6424G>A (p.Glu2142Lys)
c.9142G>A (p.Glu3048Lys)
c.9139G>A (p.Glu3047Lys)
c.9061G>A (p.Glu3021Lys)
c.9046G>A (p.Glu3016Lys)
c.2260G>A (p.Glu754Lys)
c.2239G>A (p.Glu747Lys)
n.9137G>A
5g.90712365G>CCA360396289ADGRV1c.9121G>C (p.Glu3041Gln)
c.265+36156G>C (n.265+36156G>C)
n.4580G>C
c.2928G>C
n.2265G>C
c.3850G>C
c.1818G>C
n.9134G>C
c.9118G>C (p.Glu3040Gln)
c.9040G>C (p.Glu3014Gln)
c.6424G>C (p.Glu2142Gln)
c.9142G>C (p.Glu3048Gln)
c.9139G>C (p.Glu3047Gln)
c.9061G>C (p.Glu3021Gln)
c.9046G>C (p.Glu3016Gln)
c.2260G>C (p.Glu754Gln)
c.2239G>C (p.Glu747Gln)
n.9137G>C
5g.90712365G>TCA360396290ADGRV1c.9121G>T (p.Glu3041Ter)
c.265+36156G>T (n.265+36156G>T)
n.4580G>T
c.2928G>T
n.2265G>T
c.3850G>T
c.1818G>T
n.9134G>T
c.9118G>T (p.Glu3040Ter)
c.9040G>T (p.Glu3014Ter)
c.6424G>T (p.Glu2142Ter)
c.9142G>T (p.Glu3048Ter)
c.9139G>T (p.Glu3047Ter)
c.9061G>T (p.Glu3021Ter)
c.9046G>T (p.Glu3016Ter)
c.2260G>T (p.Glu754Ter)
c.2239G>T (p.Glu747Ter)
n.9137G>T
gnomAD v4
5g.90712366A>CCA360396291ADGRV1c.9122A>C (p.Glu3041Ala)
c.265+36157A>C (n.265+36157A>C)
n.4581A>C
c.2929A>C
n.2266A>C
c.3851A>C
c.1819A>C
n.9135A>C
c.9119A>C (p.Glu3040Ala)
c.9041A>C (p.Glu3014Ala)
c.6425A>C (p.Glu2142Ala)
c.9143A>C (p.Glu3048Ala)
c.9140A>C (p.Glu3047Ala)
c.9062A>C (p.Glu3021Ala)
c.9047A>C (p.Glu3016Ala)
c.2261A>C (p.Glu754Ala)
c.2240A>C (p.Glu747Ala)
n.9138A>C
5g.90712366A>GCA360396292ADGRV1c.9122A>G (p.Glu3041Gly)
c.265+36157A>G (n.265+36157A>G)
n.4581A>G
c.2929A>G
n.2266A>G
c.3851A>G
c.1819A>G
n.9135A>G
c.9119A>G (p.Glu3040Gly)
c.9041A>G (p.Glu3014Gly)
c.6425A>G (p.Glu2142Gly)
c.9143A>G (p.Glu3048Gly)
c.9140A>G (p.Glu3047Gly)
c.9062A>G (p.Glu3021Gly)
c.9047A>G (p.Glu3016Gly)
c.2261A>G (p.Glu754Gly)
c.2240A>G (p.Glu747Gly)
n.9138A>G
5g.90712366A>TCA360396293ADGRV1c.9122A>T (p.Glu3041Val)
c.265+36157A>T (n.265+36157A>T)
n.4581A>T
c.2929A>T
n.2266A>T
c.3851A>T
c.1819A>T
n.9135A>T
c.9119A>T (p.Glu3040Val)
c.9041A>T (p.Glu3014Val)
c.6425A>T (p.Glu2142Val)
c.9143A>T (p.Glu3048Val)
c.9140A>T (p.Glu3047Val)
c.9062A>T (p.Glu3021Val)
c.9047A>T (p.Glu3016Val)
c.2261A>T (p.Glu754Val)
c.2240A>T (p.Glu747Val)
n.9138A>T
5g.90712370delCA2674570152ADGRV1c.9126del (p.Lys3042AsnfsTer4)
c.265+36161del (n.265+36161del)
n.4585del
c.2933del
n.2270del
c.3855del
c.1823del
n.9139del
c.9123del (p.Lys3041AsnfsTer4)
c.9045del (p.Lys3015AsnfsTer4)
c.6429del (p.Lys2143AsnfsTer4)
c.9147del (p.Lys3049AsnfsTer4)
c.9144del (p.Lys3048AsnfsTer4)
c.9066del (p.Lys3022AsnfsTer4)
c.9051del (p.Lys3017AsnfsTer4)
c.2265del (p.Lys755AsnfsTer4)
c.2244del (p.Lys748AsnfsTer4)
n.9142del
gnomAD v4
5g.90712367A>CCA360396294ADGRV1c.9123A>C (p.Glu3041Asp)
c.265+36158A>C (n.265+36158A>C)
n.4582A>C
c.2930A>C
n.2267A>C
c.3852A>C
c.1820A>C
n.9136A>C
c.9120A>C (p.Glu3040Asp)
c.9042A>C (p.Glu3014Asp)
c.6426A>C (p.Glu2142Asp)
c.9144A>C (p.Glu3048Asp)
c.9141A>C (p.Glu3047Asp)
c.9063A>C (p.Glu3021Asp)
c.9048A>C (p.Glu3016Asp)
c.2262A>C (p.Glu754Asp)
c.2241A>C (p.Glu747Asp)
n.9139A>C
5g.90712367A>GCA445411952ADGRV1c.9123A>G (p.Glu3041=)
c.265+36158A>G (n.265+36158A>G)
n.4582A>G
c.2930A>G
n.2267A>G
c.3852A>G
c.1820A>G
n.9136A>G
c.9120A>G (p.Glu3040=)
c.9042A>G (p.Glu3014=)
c.6426A>G (p.Glu2142=)
c.9144A>G (p.Glu3048=)
c.9141A>G (p.Glu3047=)
c.9063A>G (p.Glu3021=)
c.9048A>G (p.Glu3016=)
c.2262A>G (p.Glu754=)
c.2241A>G (p.Glu747=)
n.9139A>G
gnomAD v4
5g.90712367A>TCA360396295ADGRV1c.9123A>T (p.Glu3041Asp)
c.265+36158A>T (n.265+36158A>T)
n.4582A>T
c.2930A>T
n.2267A>T
c.3852A>T
c.1820A>T
n.9136A>T
c.9120A>T (p.Glu3040Asp)
c.9042A>T (p.Glu3014Asp)
c.6426A>T (p.Glu2142Asp)
c.9144A>T (p.Glu3048Asp)
c.9141A>T (p.Glu3047Asp)
c.9063A>T (p.Glu3021Asp)
c.9048A>T (p.Glu3016Asp)
c.2262A>T (p.Glu754Asp)
c.2241A>T (p.Glu747Asp)
n.9139A>T
gnomAD v4
5g.90712368A>CCA360396296ADGRV1c.9124A>C (p.Lys3042Gln)
c.265+36159A>C (n.265+36159A>C)
n.4583A>C
c.2931A>C
n.2268A>C
c.3853A>C
c.1821A>C
n.9137A>C
c.9121A>C (p.Lys3041Gln)
c.9043A>C (p.Lys3015Gln)
c.6427A>C (p.Lys2143Gln)
c.9145A>C (p.Lys3049Gln)
c.9142A>C (p.Lys3048Gln)
c.9064A>C (p.Lys3022Gln)
c.9049A>C (p.Lys3017Gln)
c.2263A>C (p.Lys755Gln)
c.2242A>C (p.Lys748Gln)
n.9140A>C
5g.90712368A>GCA360396297ADGRV1c.9124A>G (p.Lys3042Glu)
c.265+36159A>G (n.265+36159A>G)
n.4583A>G
c.2931A>G
n.2268A>G
c.3853A>G
c.1821A>G
n.9137A>G
c.9121A>G (p.Lys3041Glu)
c.9043A>G (p.Lys3015Glu)
c.6427A>G (p.Lys2143Glu)
c.9145A>G (p.Lys3049Glu)
c.9142A>G (p.Lys3048Glu)
c.9064A>G (p.Lys3022Glu)
c.9049A>G (p.Lys3017Glu)
c.2263A>G (p.Lys755Glu)
c.2242A>G (p.Lys748Glu)
n.9140A>G
5g.90712368A>TCA360396298ADGRV1c.9124A>T (p.Lys3042Ter)
c.265+36159A>T (n.265+36159A>T)
n.4583A>T
c.2931A>T
n.2268A>T
c.3853A>T
c.1821A>T
n.9137A>T
c.9121A>T (p.Lys3041Ter)
c.9043A>T (p.Lys3015Ter)
c.6427A>T (p.Lys2143Ter)
c.9145A>T (p.Lys3049Ter)
c.9142A>T (p.Lys3048Ter)
c.9064A>T (p.Lys3022Ter)
c.9049A>T (p.Lys3017Ter)
c.2263A>T (p.Lys755Ter)
c.2242A>T (p.Lys748Ter)
n.9140A>T
5g.90712369A>CCA360396301ADGRV1c.9125A>C (p.Lys3042Thr)
c.265+36160A>C (n.265+36160A>C)
n.4584A>C
c.2932A>C
n.2269A>C
c.3854A>C
c.1822A>C
n.9138A>C
c.9122A>C (p.Lys3041Thr)
c.9044A>C (p.Lys3015Thr)
c.6428A>C (p.Lys2143Thr)
c.9146A>C (p.Lys3049Thr)
c.9143A>C (p.Lys3048Thr)
c.9065A>C (p.Lys3022Thr)
c.9050A>C (p.Lys3017Thr)
c.2264A>C (p.Lys755Thr)
c.2243A>C (p.Lys748Thr)
n.9141A>C
5g.90712369A>GCA360396300ADGRV1c.9125A>G (p.Lys3042Arg)
c.265+36160A>G (n.265+36160A>G)
n.4584A>G
c.2932A>G
n.2269A>G
c.3854A>G
c.1822A>G
n.9138A>G
c.9122A>G (p.Lys3041Arg)
c.9044A>G (p.Lys3015Arg)
c.6428A>G (p.Lys2143Arg)
c.9146A>G (p.Lys3049Arg)
c.9143A>G (p.Lys3048Arg)
c.9065A>G (p.Lys3022Arg)
c.9050A>G (p.Lys3017Arg)
c.2264A>G (p.Lys755Arg)
c.2243A>G (p.Lys748Arg)
n.9141A>G
ClinVar
5g.90712369A>TCA360396299ADGRV1c.9125A>T (p.Lys3042Ile)
c.265+36160A>T (n.265+36160A>T)
n.4584A>T
c.2932A>T
n.2269A>T
c.3854A>T
c.1822A>T
n.9138A>T
c.9122A>T (p.Lys3041Ile)
c.9044A>T (p.Lys3015Ile)
c.6428A>T (p.Lys2143Ile)
c.9146A>T (p.Lys3049Ile)
c.9143A>T (p.Lys3048Ile)
c.9065A>T (p.Lys3022Ile)
c.9050A>T (p.Lys3017Ile)
c.2264A>T (p.Lys755Ile)
c.2243A>T (p.Lys748Ile)
n.9141A>T
5g.90712370A>CCA360396302ADGRV1c.9126A>C (p.Lys3042Asn)
c.265+36161A>C (n.265+36161A>C)
n.4585A>C
c.2933A>C
n.2270A>C
c.3855A>C
c.1823A>C
n.9139A>C
c.9123A>C (p.Lys3041Asn)
c.9045A>C (p.Lys3015Asn)
c.6429A>C (p.Lys2143Asn)
c.9147A>C (p.Lys3049Asn)
c.9144A>C (p.Lys3048Asn)
c.9066A>C (p.Lys3022Asn)
c.9051A>C (p.Lys3017Asn)
c.2265A>C (p.Lys755Asn)
c.2244A>C (p.Lys748Asn)
n.9142A>C
5g.90712370A>GCA445411962ADGRV1c.9126A>G (p.Lys3042=)
c.265+36161A>G (n.265+36161A>G)
n.4585A>G
c.2933A>G
n.2270A>G
c.3855A>G
c.1823A>G
n.9139A>G
c.9123A>G (p.Lys3041=)
c.9045A>G (p.Lys3015=)
c.6429A>G (p.Lys2143=)
c.9147A>G (p.Lys3049=)
c.9144A>G (p.Lys3048=)
c.9066A>G (p.Lys3022=)
c.9051A>G (p.Lys3017=)
c.2265A>G (p.Lys755=)
c.2244A>G (p.Lys748=)
n.9142A>G
5g.90712370A>TCA360396303ADGRV1c.9126A>T (p.Lys3042Asn)
c.265+36161A>T (n.265+36161A>T)
n.4585A>T
c.2933A>T
n.2270A>T
c.3855A>T
c.1823A>T
n.9139A>T
c.9123A>T (p.Lys3041Asn)
c.9045A>T (p.Lys3015Asn)
c.6429A>T (p.Lys2143Asn)
c.9147A>T (p.Lys3049Asn)
c.9144A>T (p.Lys3048Asn)
c.9066A>T (p.Lys3022Asn)
c.9051A>T (p.Lys3017Asn)
c.2265A>T (p.Lys755Asn)
c.2244A>T (p.Lys748Asn)
n.9142A>T
5g.90712371T>ACA360396304ADGRV1c.9127T>A (p.Phe3043Ile)
c.265+36162T>A (n.265+36162T>A)
n.4586T>A
c.2934T>A
n.2271T>A
c.3856T>A
c.1824T>A
n.9140T>A
c.9124T>A (p.Phe3042Ile)
c.9046T>A (p.Phe3016Ile)
c.6430T>A (p.Phe2144Ile)
c.9148T>A (p.Phe3050Ile)
c.9145T>A (p.Phe3049Ile)
c.9067T>A (p.Phe3023Ile)
c.9052T>A (p.Phe3018Ile)
c.2266T>A (p.Phe756Ile)
c.2245T>A (p.Phe749Ile)
n.9143T>A
gnomAD v4
5g.90712371T>CCA360396305ADGRV1c.9127T>C (p.Phe3043Leu)
c.265+36162T>C (n.265+36162T>C)
n.4586T>C
c.2934T>C
n.2271T>C
c.3856T>C
c.1824T>C
n.9140T>C
c.9124T>C (p.Phe3042Leu)
c.9046T>C (p.Phe3016Leu)
c.6430T>C (p.Phe2144Leu)
c.9148T>C (p.Phe3050Leu)
c.9145T>C (p.Phe3049Leu)
c.9067T>C (p.Phe3023Leu)
c.9052T>C (p.Phe3018Leu)
c.2266T>C (p.Phe756Leu)
c.2245T>C (p.Phe749Leu)
n.9143T>C
5g.90712371T>GCA360396306ADGRV1c.9127T>G (p.Phe3043Val)
c.265+36162T>G (n.265+36162T>G)
n.4586T>G
c.2934T>G
n.2271T>G
c.3856T>G
c.1824T>G
n.9140T>G
c.9124T>G (p.Phe3042Val)
c.9046T>G (p.Phe3016Val)
c.6430T>G (p.Phe2144Val)
c.9148T>G (p.Phe3050Val)
c.9145T>G (p.Phe3049Val)
c.9067T>G (p.Phe3023Val)
c.9052T>G (p.Phe3018Val)
c.2266T>G (p.Phe756Val)
c.2245T>G (p.Phe749Val)
n.9143T>G
5g.90712372T>ACA360396307ADGRV1c.9128T>A (p.Phe3043Tyr)
c.265+36163T>A (n.265+36163T>A)
n.4587T>A
c.2935T>A
n.2272T>A
c.3857T>A
c.1825T>A
n.9141T>A
c.9125T>A (p.Phe3042Tyr)
c.9047T>A (p.Phe3016Tyr)
c.6431T>A (p.Phe2144Tyr)
c.9149T>A (p.Phe3050Tyr)
c.9146T>A (p.Phe3049Tyr)
c.9068T>A (p.Phe3023Tyr)
c.9053T>A (p.Phe3018Tyr)
c.2267T>A (p.Phe756Tyr)
c.2246T>A (p.Phe749Tyr)
n.9144T>A
dbSNP gnomAD v2 gnomAD v4
5g.90712372T>CCA360396308ADGRV1c.9128T>C (p.Phe3043Ser)
c.265+36163T>C (n.265+36163T>C)
n.4587T>C
c.2935T>C
n.2272T>C
c.3857T>C
c.1825T>C
n.9141T>C
c.9125T>C (p.Phe3042Ser)
c.9047T>C (p.Phe3016Ser)
c.6431T>C (p.Phe2144Ser)
c.9149T>C (p.Phe3050Ser)
c.9146T>C (p.Phe3049Ser)
c.9068T>C (p.Phe3023Ser)
c.9053T>C (p.Phe3018Ser)
c.2267T>C (p.Phe756Ser)
c.2246T>C (p.Phe749Ser)
n.9144T>C
gnomAD v4
5g.90712372T>GCA360396309ADGRV1c.9128T>G (p.Phe3043Cys)
c.265+36163T>G (n.265+36163T>G)
n.4587T>G
c.2935T>G
n.2272T>G
c.3857T>G
c.1825T>G
n.9141T>G
c.9125T>G (p.Phe3042Cys)
c.9047T>G (p.Phe3016Cys)
c.6431T>G (p.Phe2144Cys)
c.9149T>G (p.Phe3050Cys)
c.9146T>G (p.Phe3049Cys)
c.9068T>G (p.Phe3023Cys)
c.9053T>G (p.Phe3018Cys)
c.2267T>G (p.Phe756Cys)
c.2246T>G (p.Phe749Cys)
n.9144T>G
5g.90712372T=CA1562867544ADGRV1c.9128T= (p.Phe3043=)
c.265+36163T= (n.265+36163T=)
n.4587T=
c.2935T=
n.2272T=
c.3857T=
c.1825T=
n.9141T=
c.9125T= (p.Phe3042=)
c.9047T= (p.Phe3016=)
c.6431T= (p.Phe2144=)
c.9149T= (p.Phe3050=)
c.9146T= (p.Phe3049=)
c.9068T= (p.Phe3023=)
c.9053T= (p.Phe3018=)
c.2267T= (p.Phe756=)
c.2246T= (p.Phe749=)
n.9144T=
5g.90712373T>ACA360396310ADGRV1c.9129T>A (p.Phe3043Leu)
c.265+36164T>A (n.265+36164T>A)
n.4588T>A
c.2936T>A
n.2273T>A
c.3858T>A
c.1826T>A
n.9142T>A
c.9126T>A (p.Phe3042Leu)
c.9048T>A (p.Phe3016Leu)
c.6432T>A (p.Phe2144Leu)
c.9150T>A (p.Phe3050Leu)
c.9147T>A (p.Phe3049Leu)
c.9069T>A (p.Phe3023Leu)
c.9054T>A (p.Phe3018Leu)
c.2268T>A (p.Phe756Leu)
c.2247T>A (p.Phe749Leu)
n.9145T>A
5g.90712373T>CCA445411970ADGRV1c.9129T>C (p.Phe3043=)
c.265+36164T>C (n.265+36164T>C)
n.4588T>C
c.2936T>C
n.2273T>C
c.3858T>C
c.1826T>C
n.9142T>C
c.9126T>C (p.Phe3042=)
c.9048T>C (p.Phe3016=)
c.6432T>C (p.Phe2144=)
c.9150T>C (p.Phe3050=)
c.9147T>C (p.Phe3049=)
c.9069T>C (p.Phe3023=)
c.9054T>C (p.Phe3018=)
c.2268T>C (p.Phe756=)
c.2247T>C (p.Phe749=)
n.9145T>C
gnomAD v4
5g.90712373T>GCA360396311ADGRV1c.9129T>G (p.Phe3043Leu)
c.265+36164T>G (n.265+36164T>G)
n.4588T>G
c.2936T>G
n.2273T>G
c.3858T>G
c.1826T>G
n.9142T>G
c.9126T>G (p.Phe3042Leu)
c.9048T>G (p.Phe3016Leu)
c.6432T>G (p.Phe2144Leu)
c.9150T>G (p.Phe3050Leu)
c.9147T>G (p.Phe3049Leu)
c.9069T>G (p.Phe3023Leu)
c.9054T>G (p.Phe3018Leu)
c.2268T>G (p.Phe756Leu)
c.2247T>G (p.Phe749Leu)
n.9145T>G
5g.90712374C>ACA360396312ADGRV1c.9130C>A (p.Gln3044Lys)
c.265+36165C>A (n.265+36165C>A)
n.4589C>A
c.2937C>A
n.2274C>A
c.3859C>A
c.1827C>A
n.9143C>A
c.9127C>A (p.Gln3043Lys)
c.9049C>A (p.Gln3017Lys)
c.6433C>A (p.Gln2145Lys)
c.9151C>A (p.Gln3051Lys)
c.9148C>A (p.Gln3050Lys)
c.9070C>A (p.Gln3024Lys)
c.9055C>A (p.Gln3019Lys)
c.2269C>A (p.Gln757Lys)
c.2248C>A (p.Gln750Lys)
n.9146C>A
gnomAD v4
5g.90712374C=CA1562867545ADGRV1c.9130C= (p.Gln3044=)
c.265+36165C= (n.265+36165C=)
n.4589C=
c.2937C=
n.2274C=
c.3859C=
c.1827C=
n.9143C=
c.9127C= (p.Gln3043=)
c.9049C= (p.Gln3017=)
c.6433C= (p.Gln2145=)
c.9151C= (p.Gln3051=)
c.9148C= (p.Gln3050=)
c.9070C= (p.Gln3024=)
c.9055C= (p.Gln3019=)
c.2269C= (p.Gln757=)
c.2248C= (p.Gln750=)
n.9146C=
5g.90712374C>GCA360396313ADGRV1c.9130C>G (p.Gln3044Glu)
c.265+36165C>G (n.265+36165C>G)
n.4589C>G
c.2937C>G
n.2274C>G
c.3859C>G
c.1827C>G
n.9143C>G
c.9127C>G (p.Gln3043Glu)
c.9049C>G (p.Gln3017Glu)
c.6433C>G (p.Gln2145Glu)
c.9151C>G (p.Gln3051Glu)
c.9148C>G (p.Gln3050Glu)
c.9070C>G (p.Gln3024Glu)
c.9055C>G (p.Gln3019Glu)
c.2269C>G (p.Gln757Glu)
c.2248C>G (p.Gln750Glu)
n.9146C>G
COSMIC
5g.90712374C>TCA360396314ADGRV1c.9130C>T (p.Gln3044Ter)
c.265+36165C>T (n.265+36165C>T)
n.4589C>T
c.2937C>T
n.2274C>T
c.3859C>T
c.1827C>T
n.9143C>T
c.9127C>T (p.Gln3043Ter)
c.9049C>T (p.Gln3017Ter)
c.6433C>T (p.Gln2145Ter)
c.9151C>T (p.Gln3051Ter)
c.9148C>T (p.Gln3050Ter)
c.9070C>T (p.Gln3024Ter)
c.9055C>T (p.Gln3019Ter)
c.2269C>T (p.Gln757Ter)
c.2248C>T (p.Gln750Ter)
n.9146C>T
dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.90712375A=CA1562867546ADGRV1c.9131A= (p.Gln3044=)
c.265+36166A= (n.265+36166A=)
n.4590A=
c.2938A=
n.2275A=
c.3860A=
c.1828A=
n.9144A=
c.9128A= (p.Gln3043=)
c.9050A= (p.Gln3017=)
c.6434A= (p.Gln2145=)
c.9152A= (p.Gln3051=)
c.9149A= (p.Gln3050=)
c.9071A= (p.Gln3024=)
c.9056A= (p.Gln3019=)
c.2270A= (p.Gln757=)
c.2249A= (p.Gln750=)
n.9147A=
5g.90712375A>CCA360396315ADGRV1c.9131A>C (p.Gln3044Pro)
c.265+36166A>C (n.265+36166A>C)
n.4590A>C
c.2938A>C
n.2275A>C
c.3860A>C
c.1828A>C
n.9144A>C
c.9128A>C (p.Gln3043Pro)
c.9050A>C (p.Gln3017Pro)
c.6434A>C (p.Gln2145Pro)
c.9152A>C (p.Gln3051Pro)
c.9149A>C (p.Gln3050Pro)
c.9071A>C (p.Gln3024Pro)
c.9056A>C (p.Gln3019Pro)
c.2270A>C (p.Gln757Pro)
c.2249A>C (p.Gln750Pro)
n.9147A>C
5g.90712375A>GCA360396316ADGRV1c.9131A>G (p.Gln3044Arg)
c.265+36166A>G (n.265+36166A>G)
n.4590A>G
c.2938A>G
n.2275A>G
c.3860A>G
c.1828A>G
n.9144A>G
c.9128A>G (p.Gln3043Arg)
c.9050A>G (p.Gln3017Arg)
c.6434A>G (p.Gln2145Arg)
c.9152A>G (p.Gln3051Arg)
c.9149A>G (p.Gln3050Arg)
c.9071A>G (p.Gln3024Arg)
c.9056A>G (p.Gln3019Arg)
c.2270A>G (p.Gln757Arg)
c.2249A>G (p.Gln750Arg)
n.9147A>G
gnomAD v4
5g.90712375A>TCA3340447ADGRV1c.9131A>T (p.Gln3044Leu)
c.265+36166A>T (n.265+36166A>T)
n.4590A>T
c.2938A>T
n.2275A>T
c.3860A>T
c.1828A>T
n.9144A>T
c.9128A>T (p.Gln3043Leu)
c.9050A>T (p.Gln3017Leu)
c.6434A>T (p.Gln2145Leu)
c.9152A>T (p.Gln3051Leu)
c.9149A>T (p.Gln3050Leu)
c.9071A>T (p.Gln3024Leu)
c.9056A>T (p.Gln3019Leu)
c.2270A>T (p.Gln757Leu)
c.2249A>T (p.Gln750Leu)
n.9147A>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.90712376G>ACA122804762ADGRV1c.9132G>A (p.Gln3044=)
c.265+36167G>A (n.265+36167G>A)
n.4591G>A
c.2939G>A
n.2276G>A
c.3861G>A
c.1829G>A
n.9145G>A
c.9129G>A (p.Gln3043=)
c.9051G>A (p.Gln3017=)
c.6435G>A (p.Gln2145=)
c.9153G>A (p.Gln3051=)
c.9150G>A (p.Gln3050=)
c.9072G>A (p.Gln3024=)
c.9057G>A (p.Gln3019=)
c.2271G>A (p.Gln757=)
c.2250G>A (p.Gln750=)
n.9148G>A
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.90712376G>CCA360396318ADGRV1c.9132G>C (p.Gln3044His)
c.265+36167G>C (n.265+36167G>C)
n.4591G>C
c.2939G>C
n.2276G>C
c.3861G>C
c.1829G>C
n.9145G>C
c.9129G>C (p.Gln3043His)
c.9051G>C (p.Gln3017His)
c.6435G>C (p.Gln2145His)
c.9153G>C (p.Gln3051His)
c.9150G>C (p.Gln3050His)
c.9072G>C (p.Gln3024His)
c.9057G>C (p.Gln3019His)
c.2271G>C (p.Gln757His)
c.2250G>C (p.Gln750His)
n.9148G>C
5g.90712376G=CA1562867547ADGRV1c.9132G= (p.Gln3044=)
c.265+36167G= (n.265+36167G=)
n.4591G=
c.2939G=
n.2276G=
c.3861G=
c.1829G=
n.9145G=
c.9129G= (p.Gln3043=)
c.9051G= (p.Gln3017=)
c.6435G= (p.Gln2145=)
c.9153G= (p.Gln3051=)
c.9150G= (p.Gln3050=)
c.9072G= (p.Gln3024=)
c.9057G= (p.Gln3019=)
c.2271G= (p.Gln757=)
c.2250G= (p.Gln750=)
n.9148G=
5g.90712376G>TCA360396317ADGRV1c.9132G>T (p.Gln3044His)
c.265+36167G>T (n.265+36167G>T)
n.4591G>T
c.2939G>T
n.2276G>T
c.3861G>T
c.1829G>T
n.9145G>T
c.9129G>T (p.Gln3043His)
c.9051G>T (p.Gln3017His)
c.6435G>T (p.Gln2145His)
c.9153G>T (p.Gln3051His)
c.9150G>T (p.Gln3050His)
c.9072G>T (p.Gln3024His)
c.9057G>T (p.Gln3019His)
c.2271G>T (p.Gln757His)
c.2250G>T (p.Gln750His)
n.9148G>T
gnomAD v4

Number of alleles fetched