Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.66455377G>ACA2619716063GRIP1c.1423+32C>T (n.1423+32C>T)
c.1354+32C>T (n.1354+32C>T)
c.1198+32C>T (n.1198+32C>T)
c.460+32C>T
c.874+7547C>T (n.874+7547C>T)
c.798+32C>T
c.1030+32C>T (n.1030+32C>T)
c.337+60242C>T (n.337+60242C>T)
c.656+32C>T
c.1357+32C>T (n.1357+32C>T)
c.1276+32C>T (n.1276+32C>T)
c.1579+32C>T (n.1579+32C>T)
c.1186+32C>T (n.1186+32C>T)
c.1273+32C>T (n.1273+32C>T)
c.1432+32C>T (n.1432+32C>T)
c.1201+32C>T (n.1201+32C>T)
 gnomAD v4
12g.66455377G>CCA6674403GRIP1c.1423+32C>G (n.1423+32C>G)
c.1354+32C>G (n.1354+32C>G)
c.1198+32C>G (n.1198+32C>G)
c.460+32C>G
c.874+7547C>G (n.874+7547C>G)
c.798+32C>G
c.1030+32C>G (n.1030+32C>G)
c.337+60242C>G (n.337+60242C>G)
c.656+32C>G
c.1357+32C>G (n.1357+32C>G)
c.1276+32C>G (n.1276+32C>G)
c.1579+32C>G (n.1579+32C>G)
c.1186+32C>G (n.1186+32C>G)
c.1273+32C>G (n.1273+32C>G)
c.1432+32C>G (n.1432+32C>G)
c.1201+32C>G (n.1201+32C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.66455377G=CA2043057154GRIP1c.1423+32C= (n.1423+32C=)
c.1354+32C= (n.1354+32C=)
c.1198+32C= (n.1198+32C=)
c.460+32C=
c.874+7547C= (n.874+7547C=)
c.798+32C=
c.1030+32C= (n.1030+32C=)
c.337+60242C= (n.337+60242C=)
c.656+32C=
c.1357+32C= (n.1357+32C=)
c.1276+32C= (n.1276+32C=)
c.1579+32C= (n.1579+32C=)
c.1186+32C= (n.1186+32C=)
c.1273+32C= (n.1273+32C=)
c.1432+32C= (n.1432+32C=)
c.1201+32C= (n.1201+32C=)
12g.66455380_66455393delCA2619716062GRIP1c.1423+19_1423+32del (n.1423+19_1423+32del)
c.1354+19_1354+32del (n.1354+19_1354+32del)
c.1198+19_1198+32del (n.1198+19_1198+32del)
c.460+19_460+32del
c.874+7534_874+7547del (n.874+7534_874+7547del)
c.798+19_798+32del
c.1030+19_1030+32del (n.1030+19_1030+32del)
c.337+60229_337+60242del (n.337+60229_337+60242del)
c.656+19_656+32del
c.1357+19_1357+32del (n.1357+19_1357+32del)
c.1276+19_1276+32del (n.1276+19_1276+32del)
c.1579+19_1579+32del (n.1579+19_1579+32del)
c.1186+19_1186+32del (n.1186+19_1186+32del)
c.1273+19_1273+32del (n.1273+19_1273+32del)
c.1432+19_1432+32del (n.1432+19_1432+32del)
c.1201+19_1201+32del (n.1201+19_1201+32del)
 gnomAD v4
12g.66455378G>ACA605708979GRIP1c.1423+31C>T (n.1423+31C>T)
c.1354+31C>T (n.1354+31C>T)
c.1198+31C>T (n.1198+31C>T)
c.460+31C>T
c.874+7546C>T (n.874+7546C>T)
c.798+31C>T
c.1030+31C>T (n.1030+31C>T)
c.337+60241C>T (n.337+60241C>T)
c.656+31C>T
c.1357+31C>T (n.1357+31C>T)
c.1276+31C>T (n.1276+31C>T)
c.1579+31C>T (n.1579+31C>T)
c.1186+31C>T (n.1186+31C>T)
c.1273+31C>T (n.1273+31C>T)
c.1432+31C>T (n.1432+31C>T)
c.1201+31C>T (n.1201+31C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.66455378G>CCA2619716064GRIP1c.1423+31C>G (n.1423+31C>G)
c.1354+31C>G (n.1354+31C>G)
c.1198+31C>G (n.1198+31C>G)
c.460+31C>G
c.874+7546C>G (n.874+7546C>G)
c.798+31C>G
c.1030+31C>G (n.1030+31C>G)
c.337+60241C>G (n.337+60241C>G)
c.656+31C>G
c.1357+31C>G (n.1357+31C>G)
c.1276+31C>G (n.1276+31C>G)
c.1579+31C>G (n.1579+31C>G)
c.1186+31C>G (n.1186+31C>G)
c.1273+31C>G (n.1273+31C>G)
c.1432+31C>G (n.1432+31C>G)
c.1201+31C>G (n.1201+31C>G)
 gnomAD v4
12g.66455378G=CA2043057155GRIP1c.1423+31C= (n.1423+31C=)
c.1354+31C= (n.1354+31C=)
c.1198+31C= (n.1198+31C=)
c.460+31C=
c.874+7546C= (n.874+7546C=)
c.798+31C=
c.1030+31C= (n.1030+31C=)
c.337+60241C= (n.337+60241C=)
c.656+31C=
c.1357+31C= (n.1357+31C=)
c.1276+31C= (n.1276+31C=)
c.1579+31C= (n.1579+31C=)
c.1186+31C= (n.1186+31C=)
c.1273+31C= (n.1273+31C=)
c.1432+31C= (n.1432+31C=)
c.1201+31C= (n.1201+31C=)
12g.66455382A=CA2043057156GRIP1c.1423+27T= (n.1423+27T=)
c.1354+27T= (n.1354+27T=)
c.1198+27T= (n.1198+27T=)
c.460+27T=
c.874+7542T= (n.874+7542T=)
c.798+27T=
c.1030+27T= (n.1030+27T=)
c.337+60237T= (n.337+60237T=)
c.656+27T=
c.1357+27T= (n.1357+27T=)
c.1276+27T= (n.1276+27T=)
c.1579+27T= (n.1579+27T=)
c.1186+27T= (n.1186+27T=)
c.1273+27T= (n.1273+27T=)
c.1432+27T= (n.1432+27T=)
c.1201+27T= (n.1201+27T=)
12g.66455382A>GCA6674404GRIP1c.1423+27T>C (n.1423+27T>C)
c.1354+27T>C (n.1354+27T>C)
c.1198+27T>C (n.1198+27T>C)
c.460+27T>C
c.874+7542T>C (n.874+7542T>C)
c.798+27T>C
c.1030+27T>C (n.1030+27T>C)
c.337+60237T>C (n.337+60237T>C)
c.656+27T>C
c.1357+27T>C (n.1357+27T>C)
c.1276+27T>C (n.1276+27T>C)
c.1579+27T>C (n.1579+27T>C)
c.1186+27T>C (n.1186+27T>C)
c.1273+27T>C (n.1273+27T>C)
c.1432+27T>C (n.1432+27T>C)
c.1201+27T>C (n.1201+27T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.66455384T>CCA691085205GRIP1c.1423+25A>G (n.1423+25A>G)
c.1354+25A>G (n.1354+25A>G)
c.1198+25A>G (n.1198+25A>G)
c.460+25A>G
c.874+7540A>G (n.874+7540A>G)
c.798+25A>G
c.1030+25A>G (n.1030+25A>G)
c.337+60235A>G (n.337+60235A>G)
c.656+25A>G
c.1357+25A>G (n.1357+25A>G)
c.1276+25A>G (n.1276+25A>G)
c.1579+25A>G (n.1579+25A>G)
c.1186+25A>G (n.1186+25A>G)
c.1273+25A>G (n.1273+25A>G)
c.1432+25A>G (n.1432+25A>G)
c.1201+25A>G (n.1201+25A>G)
 dbSNP gnomAD v3 gnomAD v4
12g.66455384T=CA2043057157GRIP1c.1423+25A= (n.1423+25A=)
c.1354+25A= (n.1354+25A=)
c.1198+25A= (n.1198+25A=)
c.460+25A=
c.874+7540A= (n.874+7540A=)
c.798+25A=
c.1030+25A= (n.1030+25A=)
c.337+60235A= (n.337+60235A=)
c.656+25A=
c.1357+25A= (n.1357+25A=)
c.1276+25A= (n.1276+25A=)
c.1579+25A= (n.1579+25A=)
c.1186+25A= (n.1186+25A=)
c.1273+25A= (n.1273+25A=)
c.1432+25A= (n.1432+25A=)
c.1201+25A= (n.1201+25A=)
12g.66455385G>ACA2619716066GRIP1c.1423+24C>T (n.1423+24C>T)
c.1354+24C>T (n.1354+24C>T)
c.1198+24C>T (n.1198+24C>T)
c.460+24C>T
c.874+7539C>T (n.874+7539C>T)
c.798+24C>T
c.1030+24C>T (n.1030+24C>T)
c.337+60234C>T (n.337+60234C>T)
c.656+24C>T
c.1357+24C>T (n.1357+24C>T)
c.1276+24C>T (n.1276+24C>T)
c.1579+24C>T (n.1579+24C>T)
c.1186+24C>T (n.1186+24C>T)
c.1273+24C>T (n.1273+24C>T)
c.1432+24C>T (n.1432+24C>T)
c.1201+24C>T (n.1201+24C>T)
 gnomAD v4
12g.66455387_66455393delCA2619716065GRIP1c.1423+18_1423+24del (n.1423+18_1423+24del)
c.1354+18_1354+24del (n.1354+18_1354+24del)
c.1198+18_1198+24del (n.1198+18_1198+24del)
c.460+18_460+24del
c.874+7533_874+7539del (n.874+7533_874+7539del)
c.798+18_798+24del
c.1030+18_1030+24del (n.1030+18_1030+24del)
c.337+60228_337+60234del (n.337+60228_337+60234del)
c.656+18_656+24del
c.1357+18_1357+24del (n.1357+18_1357+24del)
c.1276+18_1276+24del (n.1276+18_1276+24del)
c.1579+18_1579+24del (n.1579+18_1579+24del)
c.1186+18_1186+24del (n.1186+18_1186+24del)
c.1273+18_1273+24del (n.1273+18_1273+24del)
c.1432+18_1432+24del (n.1432+18_1432+24del)
c.1201+18_1201+24del (n.1201+18_1201+24del)
 gnomAD v4
12g.66455386C>ACA238353604GRIP1c.1423+23G>T (n.1423+23G>T)
c.1354+23G>T (n.1354+23G>T)
c.1198+23G>T (n.1198+23G>T)
c.460+23G>T
c.874+7538G>T (n.874+7538G>T)
c.798+23G>T
c.1030+23G>T (n.1030+23G>T)
c.337+60233G>T (n.337+60233G>T)
c.656+23G>T
c.1357+23G>T (n.1357+23G>T)
c.1276+23G>T (n.1276+23G>T)
c.1579+23G>T (n.1579+23G>T)
c.1186+23G>T (n.1186+23G>T)
c.1273+23G>T (n.1273+23G>T)
c.1432+23G>T (n.1432+23G>T)
c.1201+23G>T (n.1201+23G>T)
 dbSNP gnomAD v4
12g.66455386C=CA2043057158GRIP1c.1423+23G= (n.1423+23G=)
c.1354+23G= (n.1354+23G=)
c.1198+23G= (n.1198+23G=)
c.460+23G=
c.874+7538G= (n.874+7538G=)
c.798+23G=
c.1030+23G= (n.1030+23G=)
c.337+60233G= (n.337+60233G=)
c.656+23G=
c.1357+23G= (n.1357+23G=)
c.1276+23G= (n.1276+23G=)
c.1579+23G= (n.1579+23G=)
c.1186+23G= (n.1186+23G=)
c.1273+23G= (n.1273+23G=)
c.1432+23G= (n.1432+23G=)
c.1201+23G= (n.1201+23G=)
12g.66455387C>ACA6674405GRIP1c.1423+22G>T (n.1423+22G>T)
c.1354+22G>T (n.1354+22G>T)
c.1198+22G>T (n.1198+22G>T)
c.460+22G>T
c.874+7537G>T (n.874+7537G>T)
c.798+22G>T
c.1030+22G>T (n.1030+22G>T)
c.337+60232G>T (n.337+60232G>T)
c.656+22G>T
c.1357+22G>T (n.1357+22G>T)
c.1276+22G>T (n.1276+22G>T)
c.1579+22G>T (n.1579+22G>T)
c.1186+22G>T (n.1186+22G>T)
c.1273+22G>T (n.1273+22G>T)
c.1432+22G>T (n.1432+22G>T)
c.1201+22G>T (n.1201+22G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.66455387C=CA2043057159GRIP1c.1423+22G= (n.1423+22G=)
c.1354+22G= (n.1354+22G=)
c.1198+22G= (n.1198+22G=)
c.460+22G=
c.874+7537G= (n.874+7537G=)
c.798+22G=
c.1030+22G= (n.1030+22G=)
c.337+60232G= (n.337+60232G=)
c.656+22G=
c.1357+22G= (n.1357+22G=)
c.1276+22G= (n.1276+22G=)
c.1579+22G= (n.1579+22G=)
c.1186+22G= (n.1186+22G=)
c.1273+22G= (n.1273+22G=)
c.1432+22G= (n.1432+22G=)
c.1201+22G= (n.1201+22G=)
12g.66455388A=CA2043057160GRIP1c.1423+21T= (n.1423+21T=)
c.1354+21T= (n.1354+21T=)
c.1198+21T= (n.1198+21T=)
c.460+21T=
c.874+7536T= (n.874+7536T=)
c.798+21T=
c.1030+21T= (n.1030+21T=)
c.337+60231T= (n.337+60231T=)
c.656+21T=
c.1357+21T= (n.1357+21T=)
c.1276+21T= (n.1276+21T=)
c.1579+21T= (n.1579+21T=)
c.1186+21T= (n.1186+21T=)
c.1273+21T= (n.1273+21T=)
c.1432+21T= (n.1432+21T=)
c.1201+21T= (n.1201+21T=)
12g.66455388A>GCA6674406GRIP1c.1423+21T>C (n.1423+21T>C)
c.1354+21T>C (n.1354+21T>C)
c.1198+21T>C (n.1198+21T>C)
c.460+21T>C
c.874+7536T>C (n.874+7536T>C)
c.798+21T>C
c.1030+21T>C (n.1030+21T>C)
c.337+60231T>C (n.337+60231T>C)
c.656+21T>C
c.1357+21T>C (n.1357+21T>C)
c.1276+21T>C (n.1276+21T>C)
c.1579+21T>C (n.1579+21T>C)
c.1186+21T>C (n.1186+21T>C)
c.1273+21T>C (n.1273+21T>C)
c.1432+21T>C (n.1432+21T>C)
c.1201+21T>C (n.1201+21T>C)
 dbSNP ExAC gnomAD v4
12g.66455388A>TCA2796360885GRIP1c.1423+21T>A (n.1423+21T>A)
c.1354+21T>A (n.1354+21T>A)
c.1198+21T>A (n.1198+21T>A)
c.460+21T>A
c.874+7536T>A (n.874+7536T>A)
c.798+21T>A
c.1030+21T>A (n.1030+21T>A)
c.337+60231T>A (n.337+60231T>A)
c.656+21T>A
c.1357+21T>A (n.1357+21T>A)
c.1276+21T>A (n.1276+21T>A)
c.1579+21T>A (n.1579+21T>A)
c.1186+21T>A (n.1186+21T>A)
c.1273+21T>A (n.1273+21T>A)
c.1432+21T>A (n.1432+21T>A)
c.1201+21T>A (n.1201+21T>A)
12g.66455389T>CCA6674407GRIP1c.1423+20A>G (n.1423+20A>G)
c.1354+20A>G (n.1354+20A>G)
c.1198+20A>G (n.1198+20A>G)
c.460+20A>G
c.874+7535A>G (n.874+7535A>G)
c.798+20A>G
c.1030+20A>G (n.1030+20A>G)
c.337+60230A>G (n.337+60230A>G)
c.656+20A>G
c.1357+20A>G (n.1357+20A>G)
c.1276+20A>G (n.1276+20A>G)
c.1579+20A>G (n.1579+20A>G)
c.1186+20A>G (n.1186+20A>G)
c.1273+20A>G (n.1273+20A>G)
c.1432+20A>G (n.1432+20A>G)
c.1201+20A>G (n.1201+20A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.66455389T=CA2043057161GRIP1c.1423+20A= (n.1423+20A=)
c.1354+20A= (n.1354+20A=)
c.1198+20A= (n.1198+20A=)
c.460+20A=
c.874+7535A= (n.874+7535A=)
c.798+20A=
c.1030+20A= (n.1030+20A=)
c.337+60230A= (n.337+60230A=)
c.656+20A=
c.1357+20A= (n.1357+20A=)
c.1276+20A= (n.1276+20A=)
c.1579+20A= (n.1579+20A=)
c.1186+20A= (n.1186+20A=)
c.1273+20A= (n.1273+20A=)
c.1432+20A= (n.1432+20A=)
c.1201+20A= (n.1201+20A=)
12g.66455390delCA2697559365GRIP1c.1423+20del (n.1423+20del)
c.1354+20del (n.1354+20del)
c.1198+20del (n.1198+20del)
c.460+20del
c.874+7535del (n.874+7535del)
c.798+20del
c.1030+20del (n.1030+20del)
c.337+60230del (n.337+60230del)
c.656+20del
c.1357+20del (n.1357+20del)
c.1276+20del (n.1276+20del)
c.1579+20del (n.1579+20del)
c.1186+20del (n.1186+20del)
c.1273+20del (n.1273+20del)
c.1432+20del (n.1432+20del)
c.1201+20del (n.1201+20del)
 ClinVar
12g.66455390T>CCA6674408GRIP1c.1423+19A>G (n.1423+19A>G)
c.1354+19A>G (n.1354+19A>G)
c.1198+19A>G (n.1198+19A>G)
c.460+19A>G
c.874+7534A>G (n.874+7534A>G)
c.798+19A>G
c.1030+19A>G (n.1030+19A>G)
c.337+60229A>G (n.337+60229A>G)
c.656+19A>G
c.1357+19A>G (n.1357+19A>G)
c.1276+19A>G (n.1276+19A>G)
c.1579+19A>G (n.1579+19A>G)
c.1186+19A>G (n.1186+19A>G)
c.1273+19A>G (n.1273+19A>G)
c.1432+19A>G (n.1432+19A>G)
c.1201+19A>G (n.1201+19A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.66455390T=CA2043057162GRIP1c.1423+19A= (n.1423+19A=)
c.1354+19A= (n.1354+19A=)
c.1198+19A= (n.1198+19A=)
c.460+19A=
c.874+7534A= (n.874+7534A=)
c.798+19A=
c.1030+19A= (n.1030+19A=)
c.337+60229A= (n.337+60229A=)
c.656+19A=
c.1357+19A= (n.1357+19A=)
c.1276+19A= (n.1276+19A=)
c.1579+19A= (n.1579+19A=)
c.1186+19A= (n.1186+19A=)
c.1273+19A= (n.1273+19A=)
c.1432+19A= (n.1432+19A=)
c.1201+19A= (n.1201+19A=)
12g.66455391G>ACA605708981GRIP1c.1423+18C>T (n.1423+18C>T)
c.1354+18C>T (n.1354+18C>T)
c.1198+18C>T (n.1198+18C>T)
c.460+18C>T
c.874+7533C>T (n.874+7533C>T)
c.798+18C>T
c.1030+18C>T (n.1030+18C>T)
c.337+60228C>T (n.337+60228C>T)
c.656+18C>T
c.1357+18C>T (n.1357+18C>T)
c.1276+18C>T (n.1276+18C>T)
c.1579+18C>T (n.1579+18C>T)
c.1186+18C>T (n.1186+18C>T)
c.1273+18C>T (n.1273+18C>T)
c.1432+18C>T (n.1432+18C>T)
c.1201+18C>T (n.1201+18C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.66455391G=CA2043057163GRIP1c.1423+18C= (n.1423+18C=)
c.1354+18C= (n.1354+18C=)
c.1198+18C= (n.1198+18C=)
c.460+18C=
c.874+7533C= (n.874+7533C=)
c.798+18C=
c.1030+18C= (n.1030+18C=)
c.337+60228C= (n.337+60228C=)
c.656+18C=
c.1357+18C= (n.1357+18C=)
c.1276+18C= (n.1276+18C=)
c.1579+18C= (n.1579+18C=)
c.1186+18C= (n.1186+18C=)
c.1273+18C= (n.1273+18C=)
c.1432+18C= (n.1432+18C=)
c.1201+18C= (n.1201+18C=)
12g.66455392G>ACA2619716067GRIP1c.1423+17C>T (n.1423+17C>T)
c.1354+17C>T (n.1354+17C>T)
c.1198+17C>T (n.1198+17C>T)
c.460+17C>T
c.874+7532C>T (n.874+7532C>T)
c.798+17C>T
c.1030+17C>T (n.1030+17C>T)
c.337+60227C>T (n.337+60227C>T)
c.656+17C>T
c.1357+17C>T (n.1357+17C>T)
c.1276+17C>T (n.1276+17C>T)
c.1579+17C>T (n.1579+17C>T)
c.1186+17C>T (n.1186+17C>T)
c.1273+17C>T (n.1273+17C>T)
c.1432+17C>T (n.1432+17C>T)
c.1201+17C>T (n.1201+17C>T)
 gnomAD v4
12g.66455392G>CCA2575217717GRIP1c.1423+17C>G (n.1423+17C>G)
c.1354+17C>G (n.1354+17C>G)
c.1198+17C>G (n.1198+17C>G)
c.460+17C>G
c.874+7532C>G (n.874+7532C>G)
c.798+17C>G
c.1030+17C>G (n.1030+17C>G)
c.337+60227C>G (n.337+60227C>G)
c.656+17C>G
c.1357+17C>G (n.1357+17C>G)
c.1276+17C>G (n.1276+17C>G)
c.1579+17C>G (n.1579+17C>G)
c.1186+17C>G (n.1186+17C>G)
c.1273+17C>G (n.1273+17C>G)
c.1432+17C>G (n.1432+17C>G)
c.1201+17C>G (n.1201+17C>G)
12g.66455395G>ACA605708983GRIP1c.1423+14C>T (n.1423+14C>T)
c.1354+14C>T (n.1354+14C>T)
c.1198+14C>T (n.1198+14C>T)
c.460+14C>T
c.874+7529C>T (n.874+7529C>T)
c.798+14C>T
c.1030+14C>T (n.1030+14C>T)
c.337+60224C>T (n.337+60224C>T)
c.656+14C>T
c.1357+14C>T (n.1357+14C>T)
c.1276+14C>T (n.1276+14C>T)
c.1579+14C>T (n.1579+14C>T)
c.1186+14C>T (n.1186+14C>T)
c.1273+14C>T (n.1273+14C>T)
c.1432+14C>T (n.1432+14C>T)
c.1201+14C>T (n.1201+14C>T)
 dbSNP gnomAD v2 gnomAD v4
12g.66455395G=CA2043057164GRIP1c.1423+14C= (n.1423+14C=)
c.1354+14C= (n.1354+14C=)
c.1198+14C= (n.1198+14C=)
c.460+14C=
c.874+7529C= (n.874+7529C=)
c.798+14C=
c.1030+14C= (n.1030+14C=)
c.337+60224C= (n.337+60224C=)
c.656+14C=
c.1357+14C= (n.1357+14C=)
c.1276+14C= (n.1276+14C=)
c.1579+14C= (n.1579+14C=)
c.1186+14C= (n.1186+14C=)
c.1273+14C= (n.1273+14C=)
c.1432+14C= (n.1432+14C=)
c.1201+14C= (n.1201+14C=)
12g.66455396T>GCA605708984GRIP1c.1423+13A>C (n.1423+13A>C)
c.1354+13A>C (n.1354+13A>C)
c.1198+13A>C (n.1198+13A>C)
c.460+13A>C
c.874+7528A>C (n.874+7528A>C)
c.798+13A>C
c.1030+13A>C (n.1030+13A>C)
c.337+60223A>C (n.337+60223A>C)
c.656+13A>C
c.1357+13A>C (n.1357+13A>C)
c.1276+13A>C (n.1276+13A>C)
c.1579+13A>C (n.1579+13A>C)
c.1186+13A>C (n.1186+13A>C)
c.1273+13A>C (n.1273+13A>C)
c.1432+13A>C (n.1432+13A>C)
c.1201+13A>C (n.1201+13A>C)
 dbSNP gnomAD v2
12g.66455396T=CA2043057165GRIP1c.1423+13A= (n.1423+13A=)
c.1354+13A= (n.1354+13A=)
c.1198+13A= (n.1198+13A=)
c.460+13A=
c.874+7528A= (n.874+7528A=)
c.798+13A=
c.1030+13A= (n.1030+13A=)
c.337+60223A= (n.337+60223A=)
c.656+13A=
c.1357+13A= (n.1357+13A=)
c.1276+13A= (n.1276+13A=)
c.1579+13A= (n.1579+13A=)
c.1186+13A= (n.1186+13A=)
c.1273+13A= (n.1273+13A=)
c.1432+13A= (n.1432+13A=)
c.1201+13A= (n.1201+13A=)
12g.66455397C>ACA2619716068GRIP1c.1423+12G>T (n.1423+12G>T)
c.1354+12G>T (n.1354+12G>T)
c.1198+12G>T (n.1198+12G>T)
c.460+12G>T
c.874+7527G>T (n.874+7527G>T)
c.798+12G>T
c.1030+12G>T (n.1030+12G>T)
c.337+60222G>T (n.337+60222G>T)
c.656+12G>T
c.1357+12G>T (n.1357+12G>T)
c.1276+12G>T (n.1276+12G>T)
c.1579+12G>T (n.1579+12G>T)
c.1186+12G>T (n.1186+12G>T)
c.1273+12G>T (n.1273+12G>T)
c.1432+12G>T (n.1432+12G>T)
c.1201+12G>T (n.1201+12G>T)
 gnomAD v4
12g.66455397C>TCA2619716069GRIP1c.1423+12G>A (n.1423+12G>A)
c.1354+12G>A (n.1354+12G>A)
c.1198+12G>A (n.1198+12G>A)
c.460+12G>A
c.874+7527G>A (n.874+7527G>A)
c.798+12G>A
c.1030+12G>A (n.1030+12G>A)
c.337+60222G>A (n.337+60222G>A)
c.656+12G>A
c.1357+12G>A (n.1357+12G>A)
c.1276+12G>A (n.1276+12G>A)
c.1579+12G>A (n.1579+12G>A)
c.1186+12G>A (n.1186+12G>A)
c.1273+12G>A (n.1273+12G>A)
c.1432+12G>A (n.1432+12G>A)
c.1201+12G>A (n.1201+12G>A)
 gnomAD v4
12g.66455398A=CA2043057166GRIP1c.1423+11T= (n.1423+11T=)
c.1354+11T= (n.1354+11T=)
c.1198+11T= (n.1198+11T=)
c.460+11T=
c.874+7526T= (n.874+7526T=)
c.798+11T=
c.1030+11T= (n.1030+11T=)
c.337+60221T= (n.337+60221T=)
c.656+11T=
c.1357+11T= (n.1357+11T=)
c.1276+11T= (n.1276+11T=)
c.1579+11T= (n.1579+11T=)
c.1186+11T= (n.1186+11T=)
c.1273+11T= (n.1273+11T=)
c.1432+11T= (n.1432+11T=)
c.1201+11T= (n.1201+11T=)
12g.66455398A>CCA605708985GRIP1c.1423+11T>G (n.1423+11T>G)
c.1354+11T>G (n.1354+11T>G)
c.1198+11T>G (n.1198+11T>G)
c.460+11T>G
c.874+7526T>G (n.874+7526T>G)
c.798+11T>G
c.1030+11T>G (n.1030+11T>G)
c.337+60221T>G (n.337+60221T>G)
c.656+11T>G
c.1357+11T>G (n.1357+11T>G)
c.1276+11T>G (n.1276+11T>G)
c.1579+11T>G (n.1579+11T>G)
c.1186+11T>G (n.1186+11T>G)
c.1273+11T>G (n.1273+11T>G)
c.1432+11T>G (n.1432+11T>G)
c.1201+11T>G (n.1201+11T>G)
 dbSNP gnomAD v2 gnomAD v4
12g.66455398A>TCA2043057167GRIP1c.1423+11T>A (n.1423+11T>A)
c.1354+11T>A (n.1354+11T>A)
c.1198+11T>A (n.1198+11T>A)
c.460+11T>A
c.874+7526T>A (n.874+7526T>A)
c.798+11T>A
c.1030+11T>A (n.1030+11T>A)
c.337+60221T>A (n.337+60221T>A)
c.656+11T>A
c.1357+11T>A (n.1357+11T>A)
c.1276+11T>A (n.1276+11T>A)
c.1579+11T>A (n.1579+11T>A)
c.1186+11T>A (n.1186+11T>A)
c.1273+11T>A (n.1273+11T>A)
c.1432+11T>A (n.1432+11T>A)
c.1201+11T>A (n.1201+11T>A)
 dbSNP
12g.66455401T>GCA2619716070GRIP1c.1423+8A>C (n.1423+8A>C)
c.1354+8A>C (n.1354+8A>C)
c.1198+8A>C (n.1198+8A>C)
c.460+8A>C
c.874+7523A>C (n.874+7523A>C)
c.798+8A>C
c.1030+8A>C (n.1030+8A>C)
c.337+60218A>C (n.337+60218A>C)
c.656+8A>C
c.1357+8A>C (n.1357+8A>C)
c.1276+8A>C (n.1276+8A>C)
c.1579+8A>C (n.1579+8A>C)
c.1186+8A>C (n.1186+8A>C)
c.1273+8A>C (n.1273+8A>C)
c.1432+8A>C (n.1432+8A>C)
c.1201+8A>C (n.1201+8A>C)
 gnomAD v4
12g.66455401_66455402delinsTCCA2043057168GRIP1c.1423+7_1423+8delinsGA (n.1423+7_1423+8delinsGA)
c.1354+7_1354+8delinsGA (n.1354+7_1354+8delinsGA)
c.1198+7_1198+8delinsGA (n.1198+7_1198+8delinsGA)
c.460+7_460+8delinsGA
c.874+7522_874+7523delinsGA (n.874+7522_874+7523delinsGA)
c.798+7_798+8delinsGA
c.1030+7_1030+8delinsGA (n.1030+7_1030+8delinsGA)
c.337+60217_337+60218delinsGA (n.337+60217_337+60218delinsGA)
c.656+7_656+8delinsGA
c.1357+7_1357+8delinsGA (n.1357+7_1357+8delinsGA)
c.1276+7_1276+8delinsGA (n.1276+7_1276+8delinsGA)
c.1579+7_1579+8delinsGA (n.1579+7_1579+8delinsGA)
c.1186+7_1186+8delinsGA (n.1186+7_1186+8delinsGA)
c.1273+7_1273+8delinsGA (n.1273+7_1273+8delinsGA)
c.1432+7_1432+8delinsGA (n.1432+7_1432+8delinsGA)
c.1201+7_1201+8delinsGA (n.1201+7_1201+8delinsGA)
12g.66455402delCA6674409GRIP1c.1423+7del (n.1423+7del)
c.1354+7del (n.1354+7del)
c.1198+7del (n.1198+7del)
c.460+7del
c.874+7522del (n.874+7522del)
c.798+7del
c.1030+7del (n.1030+7del)
c.337+60217del (n.337+60217del)
c.656+7del
c.1357+7del (n.1357+7del)
c.1276+7del (n.1276+7del)
c.1579+7del (n.1579+7del)
c.1186+7del (n.1186+7del)
c.1273+7del (n.1273+7del)
c.1432+7del (n.1432+7del)
c.1201+7del (n.1201+7del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.66455402C>GCA2619716071GRIP1c.1423+7G>C (n.1423+7G>C)
c.1354+7G>C (n.1354+7G>C)
c.1198+7G>C (n.1198+7G>C)
c.460+7G>C
c.874+7522G>C (n.874+7522G>C)
c.798+7G>C
c.1030+7G>C (n.1030+7G>C)
c.337+60217G>C (n.337+60217G>C)
c.656+7G>C
c.1357+7G>C (n.1357+7G>C)
c.1276+7G>C (n.1276+7G>C)
c.1579+7G>C (n.1579+7G>C)
c.1186+7G>C (n.1186+7G>C)
c.1273+7G>C (n.1273+7G>C)
c.1432+7G>C (n.1432+7G>C)
c.1201+7G>C (n.1201+7G>C)
 gnomAD v4
12g.66455404C>TCA2619716072GRIP1c.1423+5G>A (n.1423+5G>A)
c.1354+5G>A (n.1354+5G>A)
c.1198+5G>A (n.1198+5G>A)
c.460+5G>A
c.874+7520G>A (n.874+7520G>A)
c.798+5G>A
c.1030+5G>A (n.1030+5G>A)
c.337+60215G>A (n.337+60215G>A)
c.656+5G>A
c.1357+5G>A (n.1357+5G>A)
c.1276+5G>A (n.1276+5G>A)
c.1579+5G>A (n.1579+5G>A)
c.1186+5G>A (n.1186+5G>A)
c.1273+5G>A (n.1273+5G>A)
c.1432+5G>A (n.1432+5G>A)
c.1201+5G>A (n.1201+5G>A)
 gnomAD v4
12g.66455405T>ACA6674410GRIP1c.1423+4A>T (n.1423+4A>T)
c.1354+4A>T (n.1354+4A>T)
c.1198+4A>T (n.1198+4A>T)
c.460+4A>T
c.874+7519A>T (n.874+7519A>T)
c.798+4A>T
c.1030+4A>T (n.1030+4A>T)
c.337+60214A>T (n.337+60214A>T)
c.656+4A>T
c.1357+4A>T (n.1357+4A>T)
c.1276+4A>T (n.1276+4A>T)
c.1579+4A>T (n.1579+4A>T)
c.1186+4A>T (n.1186+4A>T)
c.1273+4A>T (n.1273+4A>T)
c.1432+4A>T (n.1432+4A>T)
c.1201+4A>T (n.1201+4A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.66455405T=CA2043057169GRIP1c.1423+4A= (n.1423+4A=)
c.1354+4A= (n.1354+4A=)
c.1198+4A= (n.1198+4A=)
c.460+4A=
c.874+7519A= (n.874+7519A=)
c.798+4A=
c.1030+4A= (n.1030+4A=)
c.337+60214A= (n.337+60214A=)
c.656+4A=
c.1357+4A= (n.1357+4A=)
c.1276+4A= (n.1276+4A=)
c.1579+4A= (n.1579+4A=)
c.1186+4A= (n.1186+4A=)
c.1273+4A= (n.1273+4A=)
c.1432+4A= (n.1432+4A=)
c.1201+4A= (n.1201+4A=)
12g.66455407A>CCA385625624GRIP1c.1423+2T>G (n.1423+2T>G)
c.1354+2T>G (n.1354+2T>G)
c.1198+2T>G (n.1198+2T>G)
c.460+2T>G
c.874+7517T>G (n.874+7517T>G)
c.798+2T>G
c.1030+2T>G (n.1030+2T>G)
c.337+60212T>G (n.337+60212T>G)
c.656+2T>G
c.1357+2T>G (n.1357+2T>G)
c.1276+2T>G (n.1276+2T>G)
c.1579+2T>G (n.1579+2T>G)
c.1186+2T>G (n.1186+2T>G)
c.1273+2T>G (n.1273+2T>G)
c.1432+2T>G (n.1432+2T>G)
c.1201+2T>G (n.1201+2T>G)
12g.66455407A>GCA385625629GRIP1c.1423+2T>C (n.1423+2T>C)
c.1354+2T>C (n.1354+2T>C)
c.1198+2T>C (n.1198+2T>C)
c.460+2T>C
c.874+7517T>C (n.874+7517T>C)
c.798+2T>C
c.1030+2T>C (n.1030+2T>C)
c.337+60212T>C (n.337+60212T>C)
c.656+2T>C
c.1357+2T>C (n.1357+2T>C)
c.1276+2T>C (n.1276+2T>C)
c.1579+2T>C (n.1579+2T>C)
c.1186+2T>C (n.1186+2T>C)
c.1273+2T>C (n.1273+2T>C)
c.1432+2T>C (n.1432+2T>C)
c.1201+2T>C (n.1201+2T>C)
12g.66455407A>TCA385625631GRIP1c.1423+2T>A (n.1423+2T>A)
c.1354+2T>A (n.1354+2T>A)
c.1198+2T>A (n.1198+2T>A)
c.460+2T>A
c.874+7517T>A (n.874+7517T>A)
c.798+2T>A
c.1030+2T>A (n.1030+2T>A)
c.337+60212T>A (n.337+60212T>A)
c.656+2T>A
c.1357+2T>A (n.1357+2T>A)
c.1276+2T>A (n.1276+2T>A)
c.1579+2T>A (n.1579+2T>A)
c.1186+2T>A (n.1186+2T>A)
c.1273+2T>A (n.1273+2T>A)
c.1432+2T>A (n.1432+2T>A)
c.1201+2T>A (n.1201+2T>A)
12g.66455408C>ACA385625634GRIP1c.1423+1G>T (n.1423+1G>T)
c.1354+1G>T (n.1354+1G>T)
c.1198+1G>T (n.1198+1G>T)
c.460+1G>T
c.874+7516G>T (n.874+7516G>T)
c.798+1G>T
c.1030+1G>T (n.1030+1G>T)
c.337+60211G>T (n.337+60211G>T)
c.656+1G>T
c.1357+1G>T (n.1357+1G>T)
c.1276+1G>T (n.1276+1G>T)
c.1579+1G>T (n.1579+1G>T)
c.1186+1G>T (n.1186+1G>T)
c.1273+1G>T (n.1273+1G>T)
c.1432+1G>T (n.1432+1G>T)
c.1201+1G>T (n.1201+1G>T)
12g.66455408C>GCA385625635GRIP1c.1423+1G>C (n.1423+1G>C)
c.1354+1G>C (n.1354+1G>C)
c.1198+1G>C (n.1198+1G>C)
c.460+1G>C
c.874+7516G>C (n.874+7516G>C)
c.798+1G>C
c.1030+1G>C (n.1030+1G>C)
c.337+60211G>C (n.337+60211G>C)
c.656+1G>C
c.1357+1G>C (n.1357+1G>C)
c.1276+1G>C (n.1276+1G>C)
c.1579+1G>C (n.1579+1G>C)
c.1186+1G>C (n.1186+1G>C)
c.1273+1G>C (n.1273+1G>C)
c.1432+1G>C (n.1432+1G>C)
c.1201+1G>C (n.1201+1G>C)
12g.66455408C>TCA385625638GRIP1c.1423+1G>A (n.1423+1G>A)
c.1354+1G>A (n.1354+1G>A)
c.1198+1G>A (n.1198+1G>A)
c.460+1G>A
c.874+7516G>A (n.874+7516G>A)
c.798+1G>A
c.1030+1G>A (n.1030+1G>A)
c.337+60211G>A (n.337+60211G>A)
c.656+1G>A
c.1357+1G>A (n.1357+1G>A)
c.1276+1G>A (n.1276+1G>A)
c.1579+1G>A (n.1579+1G>A)
c.1186+1G>A (n.1186+1G>A)
c.1273+1G>A (n.1273+1G>A)
c.1432+1G>A (n.1432+1G>A)
c.1201+1G>A (n.1201+1G>A)
12g.66455409A=CA2043057170GRIP1c.1423T= (p.Leu475=)
c.1354T= (p.Leu452=)
c.1198T= (p.Leu400=)
c.460T=
c.874+7515T= (n.874+7515T=)
c.798T=
c.1030T= (p.Leu344=)
c.337+60210T= (n.337+60210T=)
c.656T=
c.1357T= (p.Leu453=)
c.1276T= (p.Leu426=)
c.1579T= (p.Leu527=)
c.1186T= (p.Leu396=)
c.1273T= (p.Leu425=)
c.1432T= (p.Leu478=)
c.1201T= (p.Leu401=)
12g.66455409A>CCA385625649GRIP1c.1423T>G (p.Leu475Val)
c.1354T>G (p.Leu452Val)
c.1198T>G (p.Leu400Val)
c.460T>G
c.874+7515T>G (n.874+7515T>G)
c.798T>G
c.1030T>G (p.Leu344Val)
c.337+60210T>G (n.337+60210T>G)
c.656T>G
c.1357T>G (p.Leu453Val)
c.1276T>G (p.Leu426Val)
c.1579T>G (p.Leu527Val)
c.1186T>G (p.Leu396Val)
c.1273T>G (p.Leu425Val)
c.1432T>G (p.Leu478Val)
c.1201T>G (p.Leu401Val)
12g.66455409A>GCA6674411GRIP1c.1423T>C (p.Leu475=)
c.1354T>C (p.Leu452=)
c.1198T>C (p.Leu400=)
c.460T>C
c.874+7515T>C (n.874+7515T>C)
c.798T>C
c.1030T>C (p.Leu344=)
c.337+60210T>C (n.337+60210T>C)
c.656T>C
c.1357T>C (p.Leu453=)
c.1276T>C (p.Leu426=)
c.1579T>C (p.Leu527=)
c.1186T>C (p.Leu396=)
c.1273T>C (p.Leu425=)
c.1432T>C (p.Leu478=)
c.1201T>C (p.Leu401=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.66455409A>TCA385625653GRIP1c.1423T>A (p.Leu475Met)
c.1354T>A (p.Leu452Met)
c.1198T>A (p.Leu400Met)
c.460T>A
c.874+7515T>A (n.874+7515T>A)
c.798T>A
c.1030T>A (p.Leu344Met)
c.337+60210T>A (n.337+60210T>A)
c.656T>A
c.1357T>A (p.Leu453Met)
c.1276T>A (p.Leu426Met)
c.1579T>A (p.Leu527Met)
c.1186T>A (p.Leu396Met)
c.1273T>A (p.Leu425Met)
c.1432T>A (p.Leu478Met)
c.1201T>A (p.Leu401Met)
12g.66455410T>ACA480573895GRIP1c.1422A>T (p.Ser474=)
c.1353A>T (p.Ser451=)
c.1197A>T (p.Ser399=)
c.459A>T
c.874+7514A>T (n.874+7514A>T)
c.797A>T
c.1029A>T (p.Ser343=)
c.337+60209A>T (n.337+60209A>T)
c.655A>T
c.1356A>T (p.Ser452=)
c.1275A>T (p.Ser425=)
c.1578A>T (p.Ser526=)
c.1185A>T (p.Ser395=)
c.1272A>T (p.Ser424=)
c.1431A>T (p.Ser477=)
c.1200A>T (p.Ser400=)
 dbSNP
12g.66455410T>CCA480573896GRIP1c.1422A>G (p.Ser474=)
c.1353A>G (p.Ser451=)
c.1197A>G (p.Ser399=)
c.459A>G
c.874+7514A>G (n.874+7514A>G)
c.797A>G
c.1029A>G (p.Ser343=)
c.337+60209A>G (n.337+60209A>G)
c.655A>G
c.1356A>G (p.Ser452=)
c.1275A>G (p.Ser425=)
c.1578A>G (p.Ser526=)
c.1185A>G (p.Ser395=)
c.1272A>G (p.Ser424=)
c.1431A>G (p.Ser477=)
c.1200A>G (p.Ser400=)
 dbSNP gnomAD v2 gnomAD v4
12g.66455410T>GCA480573897GRIP1c.1422A>C (p.Ser474=)
c.1353A>C (p.Ser451=)
c.1197A>C (p.Ser399=)
c.459A>C
c.874+7514A>C (n.874+7514A>C)
c.797A>C
c.1029A>C (p.Ser343=)
c.337+60209A>C (n.337+60209A>C)
c.655A>C
c.1356A>C (p.Ser452=)
c.1275A>C (p.Ser425=)
c.1578A>C (p.Ser526=)
c.1185A>C (p.Ser395=)
c.1272A>C (p.Ser424=)
c.1431A>C (p.Ser477=)
c.1200A>C (p.Ser400=)
 dbSNP
12g.66455410T=CA2043057171GRIP1c.1422A= (p.Ser474=)
c.1353A= (p.Ser451=)
c.1197A= (p.Ser399=)
c.459A=
c.874+7514A= (n.874+7514A=)
c.797A=
c.1029A= (p.Ser343=)
c.337+60209A= (n.337+60209A=)
c.655A=
c.1356A= (p.Ser452=)
c.1275A= (p.Ser425=)
c.1578A= (p.Ser526=)
c.1185A= (p.Ser395=)
c.1272A= (p.Ser424=)
c.1431A= (p.Ser477=)
c.1200A= (p.Ser400=)
12g.66455411G>ACA385625655GRIP1c.1421C>T (p.Ser474Leu)
c.1352C>T (p.Ser451Leu)
c.1196C>T (p.Ser399Leu)
c.458C>T
c.874+7513C>T (n.874+7513C>T)
c.796C>T
c.1028C>T (p.Ser343Leu)
c.337+60208C>T (n.337+60208C>T)
c.654C>T
c.1355C>T (p.Ser452Leu)
c.1274C>T (p.Ser425Leu)
c.1577C>T (p.Ser526Leu)
c.1184C>T (p.Ser395Leu)
c.1271C>T (p.Ser424Leu)
c.1430C>T (p.Ser477Leu)
c.1199C>T (p.Ser400Leu)
 COSMIC COSMIC
12g.66455411G>CCA385625657GRIP1c.1421C>G (p.Ser474Ter)
c.1352C>G (p.Ser451Ter)
c.1196C>G (p.Ser399Ter)
c.458C>G
c.874+7513C>G (n.874+7513C>G)
c.796C>G
c.1028C>G (p.Ser343Ter)
c.337+60208C>G (n.337+60208C>G)
c.654C>G
c.1355C>G (p.Ser452Ter)
c.1274C>G (p.Ser425Ter)
c.1577C>G (p.Ser526Ter)
c.1184C>G (p.Ser395Ter)
c.1271C>G (p.Ser424Ter)
c.1430C>G (p.Ser477Ter)
c.1199C>G (p.Ser400Ter)
12g.66455411G>TCA385625659GRIP1c.1421C>A (p.Ser474Ter)
c.1352C>A (p.Ser451Ter)
c.1196C>A (p.Ser399Ter)
c.458C>A
c.874+7513C>A (n.874+7513C>A)
c.796C>A
c.1028C>A (p.Ser343Ter)
c.337+60208C>A (n.337+60208C>A)
c.654C>A
c.1355C>A (p.Ser452Ter)
c.1274C>A (p.Ser425Ter)
c.1577C>A (p.Ser526Ter)
c.1184C>A (p.Ser395Ter)
c.1271C>A (p.Ser424Ter)
c.1430C>A (p.Ser477Ter)
c.1199C>A (p.Ser400Ter)
12g.66455412A>CCA385625661GRIP1c.1420T>G (p.Ser474Ala)
c.1351T>G (p.Ser451Ala)
c.1195T>G (p.Ser399Ala)
c.457T>G
c.874+7512T>G (n.874+7512T>G)
c.795T>G
c.1027T>G (p.Ser343Ala)
c.337+60207T>G (n.337+60207T>G)
c.653T>G
c.1354T>G (p.Ser452Ala)
c.1273T>G (p.Ser425Ala)
c.1576T>G (p.Ser526Ala)
c.1183T>G (p.Ser395Ala)
c.1270T>G (p.Ser424Ala)
c.1429T>G (p.Ser477Ala)
c.1198T>G (p.Ser400Ala)
12g.66455412A>GCA385625666GRIP1c.1420T>C (p.Ser474Pro)
c.1351T>C (p.Ser451Pro)
c.1195T>C (p.Ser399Pro)
c.457T>C
c.874+7512T>C (n.874+7512T>C)
c.795T>C
c.1027T>C (p.Ser343Pro)
c.337+60207T>C (n.337+60207T>C)
c.653T>C
c.1354T>C (p.Ser452Pro)
c.1273T>C (p.Ser425Pro)
c.1576T>C (p.Ser526Pro)
c.1183T>C (p.Ser395Pro)
c.1270T>C (p.Ser424Pro)
c.1429T>C (p.Ser477Pro)
c.1198T>C (p.Ser400Pro)
12g.66455412A>TCA385625663GRIP1c.1420T>A (p.Ser474Thr)
c.1351T>A (p.Ser451Thr)
c.1195T>A (p.Ser399Thr)
c.457T>A
c.874+7512T>A (n.874+7512T>A)
c.795T>A
c.1027T>A (p.Ser343Thr)
c.337+60207T>A (n.337+60207T>A)
c.653T>A
c.1354T>A (p.Ser452Thr)
c.1273T>A (p.Ser425Thr)
c.1576T>A (p.Ser526Thr)
c.1183T>A (p.Ser395Thr)
c.1270T>A (p.Ser424Thr)
c.1429T>A (p.Ser477Thr)
c.1198T>A (p.Ser400Thr)
12g.66455413G>ACA6674412GRIP1c.1419C>T (p.Ser473=)
c.1350C>T (p.Ser450=)
c.1194C>T (p.Ser398=)
c.456C>T
c.874+7511C>T (n.874+7511C>T)
c.794C>T
c.1026C>T (p.Ser342=)
c.337+60206C>T (n.337+60206C>T)
c.652C>T
c.1353C>T (p.Ser451=)
c.1272C>T (p.Ser424=)
c.1575C>T (p.Ser525=)
c.1182C>T (p.Ser394=)
c.1269C>T (p.Ser423=)
c.1428C>T (p.Ser476=)
c.1197C>T (p.Ser399=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.66455413G>CCA385625668GRIP1c.1419C>G (p.Ser473Arg)
c.1350C>G (p.Ser450Arg)
c.1194C>G (p.Ser398Arg)
c.456C>G
c.874+7511C>G (n.874+7511C>G)
c.794C>G
c.1026C>G (p.Ser342Arg)
c.337+60206C>G (n.337+60206C>G)
c.652C>G
c.1353C>G (p.Ser451Arg)
c.1272C>G (p.Ser424Arg)
c.1575C>G (p.Ser525Arg)
c.1182C>G (p.Ser394Arg)
c.1269C>G (p.Ser423Arg)
c.1428C>G (p.Ser476Arg)
c.1197C>G (p.Ser399Arg)
12g.66455413G=CA2043057172GRIP1c.1419C= (p.Ser473=)
c.1350C= (p.Ser450=)
c.1194C= (p.Ser398=)
c.456C=
c.874+7511C= (n.874+7511C=)
c.794C=
c.1026C= (p.Ser342=)
c.337+60206C= (n.337+60206C=)
c.652C=
c.1353C= (p.Ser451=)
c.1272C= (p.Ser424=)
c.1575C= (p.Ser525=)
c.1182C= (p.Ser394=)
c.1269C= (p.Ser423=)
c.1428C= (p.Ser476=)
c.1197C= (p.Ser399=)
12g.66455413G>TCA385625669GRIP1c.1419C>A (p.Ser473Arg)
c.1350C>A (p.Ser450Arg)
c.1194C>A (p.Ser398Arg)
c.456C>A
c.874+7511C>A (n.874+7511C>A)
c.794C>A
c.1026C>A (p.Ser342Arg)
c.337+60206C>A (n.337+60206C>A)
c.652C>A
c.1353C>A (p.Ser451Arg)
c.1272C>A (p.Ser424Arg)
c.1575C>A (p.Ser525Arg)
c.1182C>A (p.Ser394Arg)
c.1269C>A (p.Ser423Arg)
c.1428C>A (p.Ser476Arg)
c.1197C>A (p.Ser399Arg)
12g.66455414C>ACA385625672GRIP1c.1418G>T (p.Ser473Ile)
c.1349G>T (p.Ser450Ile)
c.1193G>T (p.Ser398Ile)
c.455G>T
c.874+7510G>T (n.874+7510G>T)
c.793G>T
c.1025G>T (p.Ser342Ile)
c.337+60205G>T (n.337+60205G>T)
c.651G>T
c.1352G>T (p.Ser451Ile)
c.1271G>T (p.Ser424Ile)
c.1574G>T (p.Ser525Ile)
c.1181G>T (p.Ser394Ile)
c.1268G>T (p.Ser423Ile)
c.1427G>T (p.Ser476Ile)
c.1196G>T (p.Ser399Ile)
 gnomAD v4 COSMIC COSMIC
12g.66455414C=CA2043057173GRIP1c.1418G= (p.Ser473=)
c.1349G= (p.Ser450=)
c.1193G= (p.Ser398=)
c.455G=
c.874+7510G= (n.874+7510G=)
c.793G=
c.1025G= (p.Ser342=)
c.337+60205G= (n.337+60205G=)
c.651G=
c.1352G= (p.Ser451=)
c.1271G= (p.Ser424=)
c.1574G= (p.Ser525=)
c.1181G= (p.Ser394=)
c.1268G= (p.Ser423=)
c.1427G= (p.Ser476=)
c.1196G= (p.Ser399=)
12g.66455414C>GCA385625673GRIP1c.1418G>C (p.Ser473Thr)
c.1349G>C (p.Ser450Thr)
c.1193G>C (p.Ser398Thr)
c.455G>C
c.874+7510G>C (n.874+7510G>C)
c.793G>C
c.1025G>C (p.Ser342Thr)
c.337+60205G>C (n.337+60205G>C)
c.651G>C
c.1352G>C (p.Ser451Thr)
c.1271G>C (p.Ser424Thr)
c.1574G>C (p.Ser525Thr)
c.1181G>C (p.Ser394Thr)
c.1268G>C (p.Ser423Thr)
c.1427G>C (p.Ser476Thr)
c.1196G>C (p.Ser399Thr)
 gnomAD v4
12g.66455414C>TCA385625675GRIP1c.1418G>A (p.Ser473Asn)
c.1349G>A (p.Ser450Asn)
c.1193G>A (p.Ser398Asn)
c.455G>A
c.874+7510G>A (n.874+7510G>A)
c.793G>A
c.1025G>A (p.Ser342Asn)
c.337+60205G>A (n.337+60205G>A)
c.651G>A
c.1352G>A (p.Ser451Asn)
c.1271G>A (p.Ser424Asn)
c.1574G>A (p.Ser525Asn)
c.1181G>A (p.Ser394Asn)
c.1268G>A (p.Ser423Asn)
c.1427G>A (p.Ser476Asn)
c.1196G>A (p.Ser399Asn)
 dbSNP gnomAD v2
12g.66455415T>ACA385625679GRIP1c.1417A>T (p.Ser473Cys)
c.1348A>T (p.Ser450Cys)
c.1192A>T (p.Ser398Cys)
c.454A>T
c.874+7509A>T (n.874+7509A>T)
c.792A>T
c.1024A>T (p.Ser342Cys)
c.337+60204A>T (n.337+60204A>T)
c.650A>T
c.1351A>T (p.Ser451Cys)
c.1270A>T (p.Ser424Cys)
c.1573A>T (p.Ser525Cys)
c.1180A>T (p.Ser394Cys)
c.1267A>T (p.Ser423Cys)
c.1426A>T (p.Ser476Cys)
c.1195A>T (p.Ser399Cys)
12g.66455415T>CCA385625677GRIP1c.1417A>G (p.Ser473Gly)
c.1348A>G (p.Ser450Gly)
c.1192A>G (p.Ser398Gly)
c.454A>G
c.874+7509A>G (n.874+7509A>G)
c.792A>G
c.1024A>G (p.Ser342Gly)
c.337+60204A>G (n.337+60204A>G)
c.650A>G
c.1351A>G (p.Ser451Gly)
c.1270A>G (p.Ser424Gly)
c.1573A>G (p.Ser525Gly)
c.1180A>G (p.Ser394Gly)
c.1267A>G (p.Ser423Gly)
c.1426A>G (p.Ser476Gly)
c.1195A>G (p.Ser399Gly)
12g.66455415T>GCA385625678GRIP1c.1417A>C (p.Ser473Arg)
c.1348A>C (p.Ser450Arg)
c.1192A>C (p.Ser398Arg)
c.454A>C
c.874+7509A>C (n.874+7509A>C)
c.792A>C
c.1024A>C (p.Ser342Arg)
c.337+60204A>C (n.337+60204A>C)
c.650A>C
c.1351A>C (p.Ser451Arg)
c.1270A>C (p.Ser424Arg)
c.1573A>C (p.Ser525Arg)
c.1180A>C (p.Ser394Arg)
c.1267A>C (p.Ser423Arg)
c.1426A>C (p.Ser476Arg)
c.1195A>C (p.Ser399Arg)
12g.66455416T>ACA385625681GRIP1c.1416A>T (p.Lys472Asn)
c.1347A>T (p.Lys449Asn)
c.1191A>T (p.Lys397Asn)
c.453A>T
c.874+7508A>T (n.874+7508A>T)
c.791A>T
c.1023A>T (p.Lys341Asn)
c.337+60203A>T (n.337+60203A>T)
c.649A>T
c.1350A>T (p.Lys450Asn)
c.1269A>T (p.Lys423Asn)
c.1572A>T (p.Lys524Asn)
c.1179A>T (p.Lys393Asn)
c.1266A>T (p.Lys422Asn)
c.1425A>T (p.Lys475Asn)
c.1194A>T (p.Lys398Asn)
12g.66455416T>CCA480573898GRIP1c.1416A>G (p.Lys472=)
c.1347A>G (p.Lys449=)
c.1191A>G (p.Lys397=)
c.453A>G
c.874+7508A>G (n.874+7508A>G)
c.791A>G
c.1023A>G (p.Lys341=)
c.337+60203A>G (n.337+60203A>G)
c.649A>G
c.1350A>G (p.Lys450=)
c.1269A>G (p.Lys423=)
c.1572A>G (p.Lys524=)
c.1179A>G (p.Lys393=)
c.1266A>G (p.Lys422=)
c.1425A>G (p.Lys475=)
c.1194A>G (p.Lys398=)
12g.66455416T>GCA385625683GRIP1c.1416A>C (p.Lys472Asn)
c.1347A>C (p.Lys449Asn)
c.1191A>C (p.Lys397Asn)
c.453A>C
c.874+7508A>C (n.874+7508A>C)
c.791A>C
c.1023A>C (p.Lys341Asn)
c.337+60203A>C (n.337+60203A>C)
c.649A>C
c.1350A>C (p.Lys450Asn)
c.1269A>C (p.Lys423Asn)
c.1572A>C (p.Lys524Asn)
c.1179A>C (p.Lys393Asn)
c.1266A>C (p.Lys422Asn)
c.1425A>C (p.Lys475Asn)
c.1194A>C (p.Lys398Asn)
12g.66455417T>ACA385625685GRIP1c.1415A>T (p.Lys472Ile)
c.1346A>T (p.Lys449Ile)
c.1190A>T (p.Lys397Ile)
c.452A>T
c.874+7507A>T (n.874+7507A>T)
c.790A>T
c.1022A>T (p.Lys341Ile)
c.337+60202A>T (n.337+60202A>T)
c.648A>T
c.1349A>T (p.Lys450Ile)
c.1268A>T (p.Lys423Ile)
c.1571A>T (p.Lys524Ile)
c.1178A>T (p.Lys393Ile)
c.1265A>T (p.Lys422Ile)
c.1424A>T (p.Lys475Ile)
c.1193A>T (p.Lys398Ile)
12g.66455417T>CCA385625698GRIP1c.1415A>G (p.Lys472Arg)
c.1346A>G (p.Lys449Arg)
c.1190A>G (p.Lys397Arg)
c.452A>G
c.874+7507A>G (n.874+7507A>G)
c.790A>G
c.1022A>G (p.Lys341Arg)
c.337+60202A>G (n.337+60202A>G)
c.648A>G
c.1349A>G (p.Lys450Arg)
c.1268A>G (p.Lys423Arg)
c.1571A>G (p.Lys524Arg)
c.1178A>G (p.Lys393Arg)
c.1265A>G (p.Lys422Arg)
c.1424A>G (p.Lys475Arg)
c.1193A>G (p.Lys398Arg)
 dbSNP gnomAD v4
12g.66455417T>GCA385625701GRIP1c.1415A>C (p.Lys472Thr)
c.1346A>C (p.Lys449Thr)
c.1190A>C (p.Lys397Thr)
c.452A>C
c.874+7507A>C (n.874+7507A>C)
c.790A>C
c.1022A>C (p.Lys341Thr)
c.337+60202A>C (n.337+60202A>C)
c.648A>C
c.1349A>C (p.Lys450Thr)
c.1268A>C (p.Lys423Thr)
c.1571A>C (p.Lys524Thr)
c.1178A>C (p.Lys393Thr)
c.1265A>C (p.Lys422Thr)
c.1424A>C (p.Lys475Thr)
c.1193A>C (p.Lys398Thr)
12g.66455417T=CA2043057174GRIP1c.1415A= (p.Lys472=)
c.1346A= (p.Lys449=)
c.1190A= (p.Lys397=)
c.452A=
c.874+7507A= (n.874+7507A=)
c.790A=
c.1022A= (p.Lys341=)
c.337+60202A= (n.337+60202A=)
c.648A=
c.1349A= (p.Lys450=)
c.1268A= (p.Lys423=)
c.1571A= (p.Lys524=)
c.1178A= (p.Lys393=)
c.1265A= (p.Lys422=)
c.1424A= (p.Lys475=)
c.1193A= (p.Lys398=)
12g.66455418T>ACA385625704GRIP1c.1414A>T (p.Lys472Ter)
c.1345A>T (p.Lys449Ter)
c.1189A>T (p.Lys397Ter)
c.451A>T
c.874+7506A>T (n.874+7506A>T)
c.789A>T
c.1021A>T (p.Lys341Ter)
c.337+60201A>T (n.337+60201A>T)
c.647A>T
c.1348A>T (p.Lys450Ter)
c.1267A>T (p.Lys423Ter)
c.1570A>T (p.Lys524Ter)
c.1177A>T (p.Lys393Ter)
c.1264A>T (p.Lys422Ter)
c.1423A>T (p.Lys475Ter)
c.1192A>T (p.Lys398Ter)
12g.66455418T>CCA385625708GRIP1c.1414A>G (p.Lys472Glu)
c.1345A>G (p.Lys449Glu)
c.1189A>G (p.Lys397Glu)
c.451A>G
c.874+7506A>G (n.874+7506A>G)
c.789A>G
c.1021A>G (p.Lys341Glu)
c.337+60201A>G (n.337+60201A>G)
c.647A>G
c.1348A>G (p.Lys450Glu)
c.1267A>G (p.Lys423Glu)
c.1570A>G (p.Lys524Glu)
c.1177A>G (p.Lys393Glu)
c.1264A>G (p.Lys422Glu)
c.1423A>G (p.Lys475Glu)
c.1192A>G (p.Lys398Glu)
 gnomAD v4
12g.66455418T>GCA385625706GRIP1c.1414A>C (p.Lys472Gln)
c.1345A>C (p.Lys449Gln)
c.1189A>C (p.Lys397Gln)
c.451A>C
c.874+7506A>C (n.874+7506A>C)
c.789A>C
c.1021A>C (p.Lys341Gln)
c.337+60201A>C (n.337+60201A>C)
c.647A>C
c.1348A>C (p.Lys450Gln)
c.1267A>C (p.Lys423Gln)
c.1570A>C (p.Lys524Gln)
c.1177A>C (p.Lys393Gln)
c.1264A>C (p.Lys422Gln)
c.1423A>C (p.Lys475Gln)
c.1192A>C (p.Lys398Gln)
12g.66455419G>ACA480573899GRIP1c.1413C>T (p.Phe471=)
c.1344C>T (p.Phe448=)
c.1188C>T (p.Phe396=)
c.450C>T
c.874+7505C>T (n.874+7505C>T)
c.788C>T
c.1020C>T (p.Phe340=)
c.337+60200C>T (n.337+60200C>T)
c.646C>T
c.1347C>T (p.Phe449=)
c.1266C>T (p.Phe422=)
c.1569C>T (p.Phe523=)
c.1176C>T (p.Phe392=)
c.1263C>T (p.Phe421=)
c.1422C>T (p.Phe474=)
c.1191C>T (p.Phe397=)
12g.66455419G>CCA385625712GRIP1c.1413C>G (p.Phe471Leu)
c.1344C>G (p.Phe448Leu)
c.1188C>G (p.Phe396Leu)
c.450C>G
c.874+7505C>G (n.874+7505C>G)
c.788C>G
c.1020C>G (p.Phe340Leu)
c.337+60200C>G (n.337+60200C>G)
c.646C>G
c.1347C>G (p.Phe449Leu)
c.1266C>G (p.Phe422Leu)
c.1569C>G (p.Phe523Leu)
c.1176C>G (p.Phe392Leu)
c.1263C>G (p.Phe421Leu)
c.1422C>G (p.Phe474Leu)
c.1191C>G (p.Phe397Leu)
12g.66455419G>TCA385625714GRIP1c.1413C>A (p.Phe471Leu)
c.1344C>A (p.Phe448Leu)
c.1188C>A (p.Phe396Leu)
c.450C>A
c.874+7505C>A (n.874+7505C>A)
c.788C>A
c.1020C>A (p.Phe340Leu)
c.337+60200C>A (n.337+60200C>A)
c.646C>A
c.1347C>A (p.Phe449Leu)
c.1266C>A (p.Phe422Leu)
c.1569C>A (p.Phe523Leu)
c.1176C>A (p.Phe392Leu)
c.1263C>A (p.Phe421Leu)
c.1422C>A (p.Phe474Leu)
c.1191C>A (p.Phe397Leu)
 gnomAD v4
12g.66455420A>CCA385625715GRIP1c.1412T>G (p.Phe471Cys)
c.1343T>G (p.Phe448Cys)
c.1187T>G (p.Phe396Cys)
c.449T>G
c.874+7504T>G (n.874+7504T>G)
c.787T>G
c.1019T>G (p.Phe340Cys)
c.337+60199T>G (n.337+60199T>G)
c.645T>G
c.1346T>G (p.Phe449Cys)
c.1265T>G (p.Phe422Cys)
c.1568T>G (p.Phe523Cys)
c.1175T>G (p.Phe392Cys)
c.1262T>G (p.Phe421Cys)
c.1421T>G (p.Phe474Cys)
c.1190T>G (p.Phe397Cys)
12g.66455420A>GCA385625717GRIP1c.1412T>C (p.Phe471Ser)
c.1343T>C (p.Phe448Ser)
c.1187T>C (p.Phe396Ser)
c.449T>C
c.874+7504T>C (n.874+7504T>C)
c.787T>C
c.1019T>C (p.Phe340Ser)
c.337+60199T>C (n.337+60199T>C)
c.645T>C
c.1346T>C (p.Phe449Ser)
c.1265T>C (p.Phe422Ser)
c.1568T>C (p.Phe523Ser)
c.1175T>C (p.Phe392Ser)
c.1262T>C (p.Phe421Ser)
c.1421T>C (p.Phe474Ser)
c.1190T>C (p.Phe397Ser)
12g.66455420A>TCA385625718GRIP1c.1412T>A (p.Phe471Tyr)
c.1343T>A (p.Phe448Tyr)
c.1187T>A (p.Phe396Tyr)
c.449T>A
c.874+7504T>A (n.874+7504T>A)
c.787T>A
c.1019T>A (p.Phe340Tyr)
c.337+60199T>A (n.337+60199T>A)
c.645T>A
c.1346T>A (p.Phe449Tyr)
c.1265T>A (p.Phe422Tyr)
c.1568T>A (p.Phe523Tyr)
c.1175T>A (p.Phe392Tyr)
c.1262T>A (p.Phe421Tyr)
c.1421T>A (p.Phe474Tyr)
c.1190T>A (p.Phe397Tyr)
12g.66455421A=CA2043057175GRIP1c.1411T= (p.Phe471=)
c.1342T= (p.Phe448=)
c.1186T= (p.Phe396=)
c.448T=
c.874+7503T= (n.874+7503T=)
c.786T=
c.1018T= (p.Phe340=)
c.337+60198T= (n.337+60198T=)
c.644T=
c.1345T= (p.Phe449=)
c.1264T= (p.Phe422=)
c.1567T= (p.Phe523=)
c.1174T= (p.Phe392=)
c.1261T= (p.Phe421=)
c.1420T= (p.Phe474=)
c.1189T= (p.Phe397=)
12g.66455421A>CCA385625721GRIP1c.1411T>G (p.Phe471Val)
c.1342T>G (p.Phe448Val)
c.1186T>G (p.Phe396Val)
c.448T>G
c.874+7503T>G (n.874+7503T>G)
c.786T>G
c.1018T>G (p.Phe340Val)
c.337+60198T>G (n.337+60198T>G)
c.644T>G
c.1345T>G (p.Phe449Val)
c.1264T>G (p.Phe422Val)
c.1567T>G (p.Phe523Val)
c.1174T>G (p.Phe392Val)
c.1261T>G (p.Phe421Val)
c.1420T>G (p.Phe474Val)
c.1189T>G (p.Phe397Val)
12g.66455421A>GCA385625724GRIP1c.1411T>C (p.Phe471Leu)
c.1342T>C (p.Phe448Leu)
c.1186T>C (p.Phe396Leu)
c.448T>C
c.874+7503T>C (n.874+7503T>C)
c.786T>C
c.1018T>C (p.Phe340Leu)
c.337+60198T>C (n.337+60198T>C)
c.644T>C
c.1345T>C (p.Phe449Leu)
c.1264T>C (p.Phe422Leu)
c.1567T>C (p.Phe523Leu)
c.1174T>C (p.Phe392Leu)
c.1261T>C (p.Phe421Leu)
c.1420T>C (p.Phe474Leu)
c.1189T>C (p.Phe397Leu)
 dbSNP gnomAD v4
12g.66455421A>TCA385625725GRIP1c.1411T>A (p.Phe471Ile)
c.1342T>A (p.Phe448Ile)
c.1186T>A (p.Phe396Ile)
c.448T>A
c.874+7503T>A (n.874+7503T>A)
c.786T>A
c.1018T>A (p.Phe340Ile)
c.337+60198T>A (n.337+60198T>A)
c.644T>A
c.1345T>A (p.Phe449Ile)
c.1264T>A (p.Phe422Ile)
c.1567T>A (p.Phe523Ile)
c.1174T>A (p.Phe392Ile)
c.1261T>A (p.Phe421Ile)
c.1420T>A (p.Phe474Ile)
c.1189T>A (p.Phe397Ile)
12g.66455422G>ACA480573900GRIP1c.1410C>T (p.Asp470=)
c.1341C>T (p.Asp447=)
c.1185C>T (p.Asp395=)
c.447C>T
c.874+7502C>T (n.874+7502C>T)
c.785C>T
c.1017C>T (p.Asp339=)
c.337+60197C>T (n.337+60197C>T)
c.643C>T
c.1344C>T (p.Asp448=)
c.1263C>T (p.Asp421=)
c.1566C>T (p.Asp522=)
c.1173C>T (p.Asp391=)
c.1260C>T (p.Asp420=)
c.1419C>T (p.Asp473=)
c.1188C>T (p.Asp396=)
12g.66455422G>CCA385625727GRIP1c.1410C>G (p.Asp470Glu)
c.1341C>G (p.Asp447Glu)
c.1185C>G (p.Asp395Glu)
c.447C>G
c.874+7502C>G (n.874+7502C>G)
c.785C>G
c.1017C>G (p.Asp339Glu)
c.337+60197C>G (n.337+60197C>G)
c.643C>G
c.1344C>G (p.Asp448Glu)
c.1263C>G (p.Asp421Glu)
c.1566C>G (p.Asp522Glu)
c.1173C>G (p.Asp391Glu)
c.1260C>G (p.Asp420Glu)
c.1419C>G (p.Asp473Glu)
c.1188C>G (p.Asp396Glu)
 dbSNP gnomAD v3 gnomAD v4
12g.66455422G=CA2043057177GRIP1c.1410C= (p.Asp470=)
c.1341C= (p.Asp447=)
c.1185C= (p.Asp395=)
c.447C=
c.874+7502C= (n.874+7502C=)
c.785C=
c.1017C= (p.Asp339=)
c.337+60197C= (n.337+60197C=)
c.643C=
c.1344C= (p.Asp448=)
c.1263C= (p.Asp421=)
c.1566C= (p.Asp522=)
c.1173C= (p.Asp391=)
c.1260C= (p.Asp420=)
c.1419C= (p.Asp473=)
c.1188C= (p.Asp396=)
12g.66455422G>TCA385625728GRIP1c.1410C>A (p.Asp470Glu)
c.1341C>A (p.Asp447Glu)
c.1185C>A (p.Asp395Glu)
c.447C>A
c.874+7502C>A (n.874+7502C>A)
c.785C>A
c.1017C>A (p.Asp339Glu)
c.337+60197C>A (n.337+60197C>A)
c.643C>A
c.1344C>A (p.Asp448Glu)
c.1263C>A (p.Asp421Glu)
c.1566C>A (p.Asp522Glu)
c.1173C>A (p.Asp391Glu)
c.1260C>A (p.Asp420Glu)
c.1419C>A (p.Asp473Glu)
c.1188C>A (p.Asp396Glu)
12g.66455422_66455426delinsGTCTTCA2043057176GRIP1c.1406_1410delinsAAGAC (p.Lys469=)
c.1337_1341delinsAAGAC (p.Lys446=)
c.1181_1185delinsAAGAC (p.Lys394=)
c.443_447delinsAAGAC
c.874+7498_874+7502delinsAAGAC (n.874+7498_874+7502delinsAAGAC)
c.781_785delinsAAGAC
c.1013_1017delinsAAGAC (p.Lys338=)
c.337+60193_337+60197delinsAAGAC (n.337+60193_337+60197delinsAAGAC)
c.639_643delinsAAGAC
c.1340_1344delinsAAGAC (p.Lys447=)
c.1259_1263delinsAAGAC (p.Lys420=)
c.1562_1566delinsAAGAC (p.Lys521=)
c.1169_1173delinsAAGAC (p.Lys390=)
c.1256_1260delinsAAGAC (p.Lys419=)
c.1415_1419delinsAAGAC (p.Lys472=)
c.1184_1188delinsAAGAC (p.Lys395=)
12g.66455423T>ACA385625733GRIP1c.1409A>T (p.Asp470Val)
c.1340A>T (p.Asp447Val)
c.1184A>T (p.Asp395Val)
c.446A>T
c.874+7501A>T (n.874+7501A>T)
c.784A>T
c.1016A>T (p.Asp339Val)
c.337+60196A>T (n.337+60196A>T)
c.642A>T
c.1343A>T (p.Asp448Val)
c.1262A>T (p.Asp421Val)
c.1565A>T (p.Asp522Val)
c.1172A>T (p.Asp391Val)
c.1259A>T (p.Asp420Val)
c.1418A>T (p.Asp473Val)
c.1187A>T (p.Asp396Val)
12g.66455423T>CCA385625729GRIP1c.1409A>G (p.Asp470Gly)
c.1340A>G (p.Asp447Gly)
c.1184A>G (p.Asp395Gly)
c.446A>G
c.874+7501A>G (n.874+7501A>G)
c.784A>G
c.1016A>G (p.Asp339Gly)
c.337+60196A>G (n.337+60196A>G)
c.642A>G
c.1343A>G (p.Asp448Gly)
c.1262A>G (p.Asp421Gly)
c.1565A>G (p.Asp522Gly)
c.1172A>G (p.Asp391Gly)
c.1259A>G (p.Asp420Gly)
c.1418A>G (p.Asp473Gly)
c.1187A>G (p.Asp396Gly)
12g.66455423T>GCA385625731GRIP1c.1409A>C (p.Asp470Ala)
c.1340A>C (p.Asp447Ala)
c.1184A>C (p.Asp395Ala)
c.446A>C
c.874+7501A>C (n.874+7501A>C)
c.784A>C
c.1016A>C (p.Asp339Ala)
c.337+60196A>C (n.337+60196A>C)
c.642A>C
c.1343A>C (p.Asp448Ala)
c.1262A>C (p.Asp421Ala)
c.1565A>C (p.Asp522Ala)
c.1172A>C (p.Asp391Ala)
c.1259A>C (p.Asp420Ala)
c.1418A>C (p.Asp473Ala)
c.1187A>C (p.Asp396Ala)
12g.66455428_66455431delCA130010GRIP1c.1406_1409del (p.Lys469ThrfsTer8)
c.1337_1340del (p.Lys446ThrfsTer8)
c.1181_1184del (p.Lys394ThrfsTer8)
c.443_446del
c.874+7498_874+7501del (n.874+7498_874+7501del)
c.781_784del
c.1013_1016del (p.Lys338ThrfsTer8)
c.337+60193_337+60196del (n.337+60193_337+60196del)
c.639_642del
c.1340_1343del (p.Lys447ThrfsTer8)
c.1259_1262del (p.Lys420ThrfsTer8)
c.1562_1565del (p.Lys521ThrfsTer8)
c.1169_1172del (p.Lys390ThrfsTer8)
c.1256_1259del (p.Lys419ThrfsTer8)
c.1415_1418del (p.Lys472ThrfsTer8)
c.1184_1187del (p.Lys395ThrfsTer8)
 ClinVar dbSNP gnomAD v4
12g.66455424C>ACA6674413GRIP1c.1408G>T (p.Asp470Tyr)
c.1339G>T (p.Asp447Tyr)
c.1183G>T (p.Asp395Tyr)
c.445G>T
c.874+7500G>T (n.874+7500G>T)
c.783G>T
c.1015G>T (p.Asp339Tyr)
c.337+60195G>T (n.337+60195G>T)
c.641G>T
c.1342G>T (p.Asp448Tyr)
c.1261G>T (p.Asp421Tyr)
c.1564G>T (p.Asp522Tyr)
c.1171G>T (p.Asp391Tyr)
c.1258G>T (p.Asp420Tyr)
c.1417G>T (p.Asp473Tyr)
c.1186G>T (p.Asp396Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.66455424C=CA2043057178GRIP1c.1408G= (p.Asp470=)
c.1339G= (p.Asp447=)
c.1183G= (p.Asp395=)
c.445G=
c.874+7500G= (n.874+7500G=)
c.783G=
c.1015G= (p.Asp339=)
c.337+60195G= (n.337+60195G=)
c.641G=
c.1342G= (p.Asp448=)
c.1261G= (p.Asp421=)
c.1564G= (p.Asp522=)
c.1171G= (p.Asp391=)
c.1258G= (p.Asp420=)
c.1417G= (p.Asp473=)
c.1186G= (p.Asp396=)
12g.66455424C>GCA385625735GRIP1c.1408G>C (p.Asp470His)
c.1339G>C (p.Asp447His)
c.1183G>C (p.Asp395His)
c.445G>C
c.874+7500G>C (n.874+7500G>C)
c.783G>C
c.1015G>C (p.Asp339His)
c.337+60195G>C (n.337+60195G>C)
c.641G>C
c.1342G>C (p.Asp448His)
c.1261G>C (p.Asp421His)
c.1564G>C (p.Asp522His)
c.1171G>C (p.Asp391His)
c.1258G>C (p.Asp420His)
c.1417G>C (p.Asp473His)
c.1186G>C (p.Asp396His)
12g.66455424C>TCA385625738GRIP1c.1408G>A (p.Asp470Asn)
c.1339G>A (p.Asp447Asn)
c.1183G>A (p.Asp395Asn)
c.445G>A
c.874+7500G>A (n.874+7500G>A)
c.783G>A
c.1015G>A (p.Asp339Asn)
c.337+60195G>A (n.337+60195G>A)
c.641G>A
c.1342G>A (p.Asp448Asn)
c.1261G>A (p.Asp421Asn)
c.1564G>A (p.Asp522Asn)
c.1171G>A (p.Asp391Asn)
c.1258G>A (p.Asp420Asn)
c.1417G>A (p.Asp473Asn)
c.1186G>A (p.Asp396Asn)
 dbSNP gnomAD v3 gnomAD v4
12g.66455425T>ACA385625741GRIP1c.1407A>T (p.Lys469Asn)
c.1338A>T (p.Lys446Asn)
c.1182A>T (p.Lys394Asn)
c.444A>T
c.874+7499A>T (n.874+7499A>T)
c.782A>T
c.1014A>T (p.Lys338Asn)
c.337+60194A>T (n.337+60194A>T)
c.640A>T
c.1341A>T (p.Lys447Asn)
c.1260A>T (p.Lys420Asn)
c.1563A>T (p.Lys521Asn)
c.1170A>T (p.Lys390Asn)
c.1257A>T (p.Lys419Asn)
c.1416A>T (p.Lys472Asn)
c.1185A>T (p.Lys395Asn)
12g.66455425T>CCA480573901GRIP1c.1407A>G (p.Lys469=)
c.1338A>G (p.Lys446=)
c.1182A>G (p.Lys394=)
c.444A>G
c.874+7499A>G (n.874+7499A>G)
c.782A>G
c.1014A>G (p.Lys338=)
c.337+60194A>G (n.337+60194A>G)
c.640A>G
c.1341A>G (p.Lys447=)
c.1260A>G (p.Lys420=)
c.1563A>G (p.Lys521=)
c.1170A>G (p.Lys390=)
c.1257A>G (p.Lys419=)
c.1416A>G (p.Lys472=)
c.1185A>G (p.Lys395=)
 gnomAD v4
12g.66455425T>GCA385625745GRIP1c.1407A>C (p.Lys469Asn)
c.1338A>C (p.Lys446Asn)
c.1182A>C (p.Lys394Asn)
c.444A>C
c.874+7499A>C (n.874+7499A>C)
c.782A>C
c.1014A>C (p.Lys338Asn)
c.337+60194A>C (n.337+60194A>C)
c.640A>C
c.1341A>C (p.Lys447Asn)
c.1260A>C (p.Lys420Asn)
c.1563A>C (p.Lys521Asn)
c.1170A>C (p.Lys390Asn)
c.1257A>C (p.Lys419Asn)
c.1416A>C (p.Lys472Asn)
c.1185A>C (p.Lys395Asn)
12g.66455426T>ACA385625746GRIP1c.1406A>T (p.Lys469Ile)
c.1337A>T (p.Lys446Ile)
c.1181A>T (p.Lys394Ile)
c.443A>T
c.874+7498A>T (n.874+7498A>T)
c.781A>T
c.1013A>T (p.Lys338Ile)
c.337+60193A>T (n.337+60193A>T)
c.639A>T
c.1340A>T (p.Lys447Ile)
c.1259A>T (p.Lys420Ile)
c.1562A>T (p.Lys521Ile)
c.1169A>T (p.Lys390Ile)
c.1256A>T (p.Lys419Ile)
c.1415A>T (p.Lys472Ile)
c.1184A>T (p.Lys395Ile)
 gnomAD v4
12g.66455426T>CCA385625748GRIP1c.1406A>G (p.Lys469Arg)
c.1337A>G (p.Lys446Arg)
c.1181A>G (p.Lys394Arg)
c.443A>G
c.874+7498A>G (n.874+7498A>G)
c.781A>G
c.1013A>G (p.Lys338Arg)
c.337+60193A>G (n.337+60193A>G)
c.639A>G
c.1340A>G (p.Lys447Arg)
c.1259A>G (p.Lys420Arg)
c.1562A>G (p.Lys521Arg)
c.1169A>G (p.Lys390Arg)
c.1256A>G (p.Lys419Arg)
c.1415A>G (p.Lys472Arg)
c.1184A>G (p.Lys395Arg)
12g.66455426T>GCA385625749GRIP1c.1406A>C (p.Lys469Thr)
c.1337A>C (p.Lys446Thr)
c.1181A>C (p.Lys394Thr)
c.443A>C
c.874+7498A>C (n.874+7498A>C)
c.781A>C
c.1013A>C (p.Lys338Thr)
c.337+60193A>C (n.337+60193A>C)
c.639A>C
c.1340A>C (p.Lys447Thr)
c.1259A>C (p.Lys420Thr)
c.1562A>C (p.Lys521Thr)
c.1169A>C (p.Lys390Thr)
c.1256A>C (p.Lys419Thr)
c.1415A>C (p.Lys472Thr)
c.1184A>C (p.Lys395Thr)
12g.66455427T>ACA385625750GRIP1c.1405A>T (p.Lys469Ter)
c.1336A>T (p.Lys446Ter)
c.1180A>T (p.Lys394Ter)
c.442A>T
c.874+7497A>T (n.874+7497A>T)
c.780A>T
c.1012A>T (p.Lys338Ter)
c.337+60192A>T (n.337+60192A>T)
c.638A>T
c.1339A>T (p.Lys447Ter)
c.1258A>T (p.Lys420Ter)
c.1561A>T (p.Lys521Ter)
c.1168A>T (p.Lys390Ter)
c.1255A>T (p.Lys419Ter)
c.1414A>T (p.Lys472Ter)
c.1183A>T (p.Lys395Ter)
12g.66455427T>CCA385625751GRIP1c.1405A>G (p.Lys469Glu)
c.1336A>G (p.Lys446Glu)
c.1180A>G (p.Lys394Glu)
c.442A>G
c.874+7497A>G (n.874+7497A>G)
c.780A>G
c.1012A>G (p.Lys338Glu)
c.337+60192A>G (n.337+60192A>G)
c.638A>G
c.1339A>G (p.Lys447Glu)
c.1258A>G (p.Lys420Glu)
c.1561A>G (p.Lys521Glu)
c.1168A>G (p.Lys390Glu)
c.1255A>G (p.Lys419Glu)
c.1414A>G (p.Lys472Glu)
c.1183A>G (p.Lys395Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.66455427T>GCA385625752GRIP1c.1405A>C (p.Lys469Gln)
c.1336A>C (p.Lys446Gln)
c.1180A>C (p.Lys394Gln)
c.442A>C
c.874+7497A>C (n.874+7497A>C)
c.780A>C
c.1012A>C (p.Lys338Gln)
c.337+60192A>C (n.337+60192A>C)
c.638A>C
c.1339A>C (p.Lys447Gln)
c.1258A>C (p.Lys420Gln)
c.1561A>C (p.Lys521Gln)
c.1168A>C (p.Lys390Gln)
c.1255A>C (p.Lys419Gln)
c.1414A>C (p.Lys472Gln)
c.1183A>C (p.Lys395Gln)
12g.66455427T=CA2043057179GRIP1c.1405A= (p.Lys469=)
c.1336A= (p.Lys446=)
c.1180A= (p.Lys394=)
c.442A=
c.874+7497A= (n.874+7497A=)
c.780A=
c.1012A= (p.Lys338=)
c.337+60192A= (n.337+60192A=)
c.638A=
c.1339A= (p.Lys447=)
c.1258A= (p.Lys420=)
c.1561A= (p.Lys521=)
c.1168A= (p.Lys390=)
c.1255A= (p.Lys419=)
c.1414A= (p.Lys472=)
c.1183A= (p.Lys395=)
12g.66455435_66455436insTTCTCCTCCAGACCGTAAGATTCAAGTTTTTCCACCAGGTCCATTTCCCATGCGTTGAACTCCTGACCTTCAGTTATCTTTTTCACA2528071854GRIP1c.1405_1406insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTGGAGGAGAATGAAAAAGA (p.Lys469IlefsTer?)
c.1336_1337insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTGGAGGAGAATGAAAAAGA (p.Lys446IlefsTer?)
c.1180_1181insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTGGAGGAGAATGAAAAAGA (p.Lys394IlefsTer?)
c.442_443insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTGGAGGAGAATGAAAAAGA
c.874+7497_874+7498insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTGGAGGAGAATGAAAAAGA (n.874+7497_874+7498insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTGGAGGAGAATGAAAAAGA)
c.780_781insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTGGAGGAGAATGAAAAAGA
c.1012_1013insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTGGAGGAGAATGAAAAAGA (p.Lys338IlefsTer?)
c.337+60192_337+60193insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTGGAGGAGAATGAAAAAGA (n.337+60192_337+60193insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTGGAGGAGAATGAAAAAGA)
c.638_639insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTGGAGGAGAATGAAAAAGA
c.1339_1340insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTGGAGGAGAATGAAAAAGA (p.Lys447IlefsTer?)
c.1258_1259insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTGGAGGAGAATGAAAAAGA (p.Lys420IlefsTer?)
c.1561_1562insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTGGAGGAGAATGAAAAAGA (p.Lys521IlefsTer?)
c.1168_1169insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTGGAGGAGAATGAAAAAGA (p.Lys390IlefsTer?)
c.1255_1256insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTGGAGGAGAATGAAAAAGA (p.Lys419IlefsTer?)
c.1414_1415insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTGGAGGAGAATGAAAAAGA (p.Lys472IlefsTer?)
c.1183_1184insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTGGAGGAGAATGAAAAAGA (p.Lys395IlefsTer?)
12g.66455435_66455436insTTCTCCTCAAGACCGTAAGATTCAAGTTTTTCCACCAGGTCCATTTCCCATGCGTTGAACTCCTGACCTTCAGTTATCTTTTTCACA2503818401GRIP1c.1405_1406insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTGAGGAGAATGAAAAAGA (p.Lys469IlefsTer?)
c.1336_1337insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTGAGGAGAATGAAAAAGA (p.Lys446IlefsTer?)
c.1180_1181insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTGAGGAGAATGAAAAAGA (p.Lys394IlefsTer?)
c.442_443insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTGAGGAGAATGAAAAAGA
c.874+7497_874+7498insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTGAGGAGAATGAAAAAGA (n.874+7497_874+7498insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTGAGGAGAATGAAAAAGA)
c.780_781insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTGAGGAGAATGAAAAAGA
c.1012_1013insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTGAGGAGAATGAAAAAGA (p.Lys338IlefsTer?)
c.337+60192_337+60193insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTGAGGAGAATGAAAAAGA (n.337+60192_337+60193insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTGAGGAGAATGAAAAAGA)
c.638_639insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTGAGGAGAATGAAAAAGA
c.1339_1340insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTGAGGAGAATGAAAAAGA (p.Lys447IlefsTer?)
c.1258_1259insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTGAGGAGAATGAAAAAGA (p.Lys420IlefsTer?)
c.1561_1562insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTGAGGAGAATGAAAAAGA (p.Lys521IlefsTer?)
c.1168_1169insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTGAGGAGAATGAAAAAGA (p.Lys390IlefsTer?)
c.1255_1256insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTGAGGAGAATGAAAAAGA (p.Lys419IlefsTer?)
c.1414_1415insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTGAGGAGAATGAAAAAGA (p.Lys472IlefsTer?)
c.1183_1184insTAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTGAGGAGAATGAAAAAGA (p.Lys395IlefsTer?)
12g.66455428C>ACA385625754GRIP1c.1404G>T (p.Lys468Asn)
c.1335G>T (p.Lys445Asn)
c.1179G>T (p.Lys393Asn)
c.441G>T
c.874+7496G>T (n.874+7496G>T)
c.779G>T
c.1011G>T (p.Lys337Asn)
c.337+60191G>T (n.337+60191G>T)
c.637G>T
c.1338G>T (p.Lys446Asn)
c.1257G>T (p.Lys419Asn)
c.1560G>T (p.Lys520Asn)
c.1167G>T (p.Lys389Asn)
c.1254G>T (p.Lys418Asn)
c.1413G>T (p.Lys471Asn)
c.1182G>T (p.Lys394Asn)
 dbSNP gnomAD v4
12g.66455428C>GCA385625755GRIP1c.1404G>C (p.Lys468Asn)
c.1335G>C (p.Lys445Asn)
c.1179G>C (p.Lys393Asn)
c.441G>C
c.874+7496G>C (n.874+7496G>C)
c.779G>C
c.1011G>C (p.Lys337Asn)
c.337+60191G>C (n.337+60191G>C)
c.637G>C
c.1338G>C (p.Lys446Asn)
c.1257G>C (p.Lys419Asn)
c.1560G>C (p.Lys520Asn)
c.1167G>C (p.Lys389Asn)
c.1254G>C (p.Lys418Asn)
c.1413G>C (p.Lys471Asn)
c.1182G>C (p.Lys394Asn)
12g.66455428C>TCA480573902GRIP1c.1404G>A (p.Lys468=)
c.1335G>A (p.Lys445=)
c.1179G>A (p.Lys393=)
c.441G>A
c.874+7496G>A (n.874+7496G>A)
c.779G>A
c.1011G>A (p.Lys337=)
c.337+60191G>A (n.337+60191G>A)
c.637G>A
c.1338G>A (p.Lys446=)
c.1257G>A (p.Lys419=)
c.1560G>A (p.Lys520=)
c.1167G>A (p.Lys389=)
c.1254G>A (p.Lys418=)
c.1413G>A (p.Lys471=)
c.1182G>A (p.Lys394=)
 gnomAD v4
12g.66455429T>ACA385625757GRIP1c.1403A>T (p.Lys468Met)
c.1334A>T (p.Lys445Met)
c.1178A>T (p.Lys393Met)
c.440A>T
c.874+7495A>T (n.874+7495A>T)
c.778A>T
c.1010A>T (p.Lys337Met)
c.337+60190A>T (n.337+60190A>T)
c.636A>T
c.1337A>T (p.Lys446Met)
c.1256A>T (p.Lys419Met)
c.1559A>T (p.Lys520Met)
c.1166A>T (p.Lys389Met)
c.1253A>T (p.Lys418Met)
c.1412A>T (p.Lys471Met)
c.1181A>T (p.Lys394Met)
12g.66455429T>CCA385625759GRIP1c.1403A>G (p.Lys468Arg)
c.1334A>G (p.Lys445Arg)
c.1178A>G (p.Lys393Arg)
c.440A>G
c.874+7495A>G (n.874+7495A>G)
c.778A>G
c.1010A>G (p.Lys337Arg)
c.337+60190A>G (n.337+60190A>G)
c.636A>G
c.1337A>G (p.Lys446Arg)
c.1256A>G (p.Lys419Arg)
c.1559A>G (p.Lys520Arg)
c.1166A>G (p.Lys389Arg)
c.1253A>G (p.Lys418Arg)
c.1412A>G (p.Lys471Arg)
c.1181A>G (p.Lys394Arg)
12g.66455429T>GCA385625761GRIP1c.1403A>C (p.Lys468Thr)
c.1334A>C (p.Lys445Thr)
c.1178A>C (p.Lys393Thr)
c.440A>C
c.874+7495A>C (n.874+7495A>C)
c.778A>C
c.1010A>C (p.Lys337Thr)
c.337+60190A>C (n.337+60190A>C)
c.636A>C
c.1337A>C (p.Lys446Thr)
c.1256A>C (p.Lys419Thr)
c.1559A>C (p.Lys520Thr)
c.1166A>C (p.Lys389Thr)
c.1253A>C (p.Lys418Thr)
c.1412A>C (p.Lys471Thr)
c.1181A>C (p.Lys394Thr)
12g.66455430T>ACA385625768GRIP1c.1402A>T (p.Lys468Ter)
c.1333A>T (p.Lys445Ter)
c.1177A>T (p.Lys393Ter)
c.439A>T
c.874+7494A>T (n.874+7494A>T)
c.777A>T
c.1009A>T (p.Lys337Ter)
c.337+60189A>T (n.337+60189A>T)
c.635A>T
c.1336A>T (p.Lys446Ter)
c.1255A>T (p.Lys419Ter)
c.1558A>T (p.Lys520Ter)
c.1165A>T (p.Lys389Ter)
c.1252A>T (p.Lys418Ter)
c.1411A>T (p.Lys471Ter)
c.1180A>T (p.Lys394Ter)
12g.66455430T>CCA385625764GRIP1c.1402A>G (p.Lys468Glu)
c.1333A>G (p.Lys445Glu)
c.1177A>G (p.Lys393Glu)
c.439A>G
c.874+7494A>G (n.874+7494A>G)
c.777A>G
c.1009A>G (p.Lys337Glu)
c.337+60189A>G (n.337+60189A>G)
c.635A>G
c.1336A>G (p.Lys446Glu)
c.1255A>G (p.Lys419Glu)
c.1558A>G (p.Lys520Glu)
c.1165A>G (p.Lys389Glu)
c.1252A>G (p.Lys418Glu)
c.1411A>G (p.Lys471Glu)
c.1180A>G (p.Lys394Glu)
12g.66455430T>GCA385625766GRIP1c.1402A>C (p.Lys468Gln)
c.1333A>C (p.Lys445Gln)
c.1177A>C (p.Lys393Gln)
c.439A>C
c.874+7494A>C (n.874+7494A>C)
c.777A>C
c.1009A>C (p.Lys337Gln)
c.337+60189A>C (n.337+60189A>C)
c.635A>C
c.1336A>C (p.Lys446Gln)
c.1255A>C (p.Lys419Gln)
c.1558A>C (p.Lys520Gln)
c.1165A>C (p.Lys389Gln)
c.1252A>C (p.Lys418Gln)
c.1411A>C (p.Lys471Gln)
c.1180A>C (p.Lys394Gln)
12g.66455430_66455431insGCTCCA2571269892GRIP1c.1401_1402insGAGC (p.Lys468GlufsTer?)
c.1332_1333insGAGC (p.Lys445GlufsTer?)
c.1176_1177insGAGC (p.Lys393GlufsTer?)
c.438_439insGAGC
c.874+7493_874+7494insGAGC (n.874+7493_874+7494insGAGC)
c.776_777insGAGC
c.1008_1009insGAGC (p.Lys337GlufsTer?)
c.337+60188_337+60189insGAGC (n.337+60188_337+60189insGAGC)
c.634_635insGAGC
c.1335_1336insGAGC (p.Lys446GlufsTer?)
c.1254_1255insGAGC (p.Lys419GlufsTer?)
c.1557_1558insGAGC (p.Lys520GlufsTer?)
c.1164_1165insGAGC (p.Lys389GlufsTer?)
c.1251_1252insGAGC (p.Lys418GlufsTer?)
c.1410_1411insGAGC (p.Lys471GlufsTer?)
c.1179_1180insGAGC (p.Lys394GlufsTer?)
12g.66455431T>ACA385625771GRIP1c.1401A>T (p.Lys467Asn)
c.1332A>T (p.Lys444Asn)
c.1176A>T (p.Lys392Asn)
c.438A>T
c.874+7493A>T (n.874+7493A>T)
c.776A>T
c.1008A>T (p.Lys336Asn)
c.337+60188A>T (n.337+60188A>T)
c.634A>T
c.1335A>T (p.Lys445Asn)
c.1254A>T (p.Lys418Asn)
c.1557A>T (p.Lys519Asn)
c.1164A>T (p.Lys388Asn)
c.1251A>T (p.Lys417Asn)
c.1410A>T (p.Lys470Asn)
c.1179A>T (p.Lys393Asn)
12g.66455431T>CCA480573903GRIP1c.1401A>G (p.Lys467=)
c.1332A>G (p.Lys444=)
c.1176A>G (p.Lys392=)
c.438A>G
c.874+7493A>G (n.874+7493A>G)
c.776A>G
c.1008A>G (p.Lys336=)
c.337+60188A>G (n.337+60188A>G)
c.634A>G
c.1335A>G (p.Lys445=)
c.1254A>G (p.Lys418=)
c.1557A>G (p.Lys519=)
c.1164A>G (p.Lys388=)
c.1251A>G (p.Lys417=)
c.1410A>G (p.Lys470=)
c.1179A>G (p.Lys393=)
 ClinVar
12g.66455431T>GCA385625772GRIP1c.1401A>C (p.Lys467Asn)
c.1332A>C (p.Lys444Asn)
c.1176A>C (p.Lys392Asn)
c.438A>C
c.874+7493A>C (n.874+7493A>C)
c.776A>C
c.1008A>C (p.Lys336Asn)
c.337+60188A>C (n.337+60188A>C)
c.634A>C
c.1335A>C (p.Lys445Asn)
c.1254A>C (p.Lys418Asn)
c.1557A>C (p.Lys519Asn)
c.1164A>C (p.Lys388Asn)
c.1251A>C (p.Lys417Asn)
c.1410A>C (p.Lys470Asn)
c.1179A>C (p.Lys393Asn)
12g.66455432T>ACA385625774GRIP1c.1400A>T (p.Lys467Ile)
c.1331A>T (p.Lys444Ile)
c.1175A>T (p.Lys392Ile)
c.437A>T
c.874+7492A>T (n.874+7492A>T)
c.775A>T
c.1007A>T (p.Lys336Ile)
c.337+60187A>T (n.337+60187A>T)
c.633A>T
c.1334A>T (p.Lys445Ile)
c.1253A>T (p.Lys418Ile)
c.1556A>T (p.Lys519Ile)
c.1163A>T (p.Lys388Ile)
c.1250A>T (p.Lys417Ile)
c.1409A>T (p.Lys470Ile)
c.1178A>T (p.Lys393Ile)
12g.66455432T>CCA385625778GRIP1c.1400A>G (p.Lys467Arg)
c.1331A>G (p.Lys444Arg)
c.1175A>G (p.Lys392Arg)
c.437A>G
c.874+7492A>G (n.874+7492A>G)
c.775A>G
c.1007A>G (p.Lys336Arg)
c.337+60187A>G (n.337+60187A>G)
c.633A>G
c.1334A>G (p.Lys445Arg)
c.1253A>G (p.Lys418Arg)
c.1556A>G (p.Lys519Arg)
c.1163A>G (p.Lys388Arg)
c.1250A>G (p.Lys417Arg)
c.1409A>G (p.Lys470Arg)
c.1178A>G (p.Lys393Arg)
12g.66455432T>GCA385625779GRIP1c.1400A>C (p.Lys467Thr)
c.1331A>C (p.Lys444Thr)
c.1175A>C (p.Lys392Thr)
c.437A>C
c.874+7492A>C (n.874+7492A>C)
c.775A>C
c.1007A>C (p.Lys336Thr)
c.337+60187A>C (n.337+60187A>C)
c.633A>C
c.1334A>C (p.Lys445Thr)
c.1253A>C (p.Lys418Thr)
c.1556A>C (p.Lys519Thr)
c.1163A>C (p.Lys388Thr)
c.1250A>C (p.Lys417Thr)
c.1409A>C (p.Lys470Thr)
c.1178A>C (p.Lys393Thr)
12g.66455433T>ACA385625781GRIP1c.1399A>T (p.Lys467Ter)
c.1330A>T (p.Lys444Ter)
c.1174A>T (p.Lys392Ter)
c.436A>T
c.874+7491A>T (n.874+7491A>T)
c.774A>T
c.1006A>T (p.Lys336Ter)
c.337+60186A>T (n.337+60186A>T)
c.632A>T
c.1333A>T (p.Lys445Ter)
c.1252A>T (p.Lys418Ter)
c.1555A>T (p.Lys519Ter)
c.1162A>T (p.Lys388Ter)
c.1249A>T (p.Lys417Ter)
c.1408A>T (p.Lys470Ter)
c.1177A>T (p.Lys393Ter)
12g.66455433T>CCA385625782GRIP1c.1399A>G (p.Lys467Glu)
c.1330A>G (p.Lys444Glu)
c.1174A>G (p.Lys392Glu)
c.436A>G
c.874+7491A>G (n.874+7491A>G)
c.774A>G
c.1006A>G (p.Lys336Glu)
c.337+60186A>G (n.337+60186A>G)
c.632A>G
c.1333A>G (p.Lys445Glu)
c.1252A>G (p.Lys418Glu)
c.1555A>G (p.Lys519Glu)
c.1162A>G (p.Lys388Glu)
c.1249A>G (p.Lys417Glu)
c.1408A>G (p.Lys470Glu)
c.1177A>G (p.Lys393Glu)
12g.66455433T>GCA385625784GRIP1c.1399A>C (p.Lys467Gln)
c.1330A>C (p.Lys444Gln)
c.1174A>C (p.Lys392Gln)
c.436A>C
c.874+7491A>C (n.874+7491A>C)
c.774A>C
c.1006A>C (p.Lys336Gln)
c.337+60186A>C (n.337+60186A>C)
c.632A>C
c.1333A>C (p.Lys445Gln)
c.1252A>C (p.Lys418Gln)
c.1555A>C (p.Lys519Gln)
c.1162A>C (p.Lys388Gln)
c.1249A>C (p.Lys417Gln)
c.1408A>C (p.Lys470Gln)
c.1177A>C (p.Lys393Gln)
12g.66455434C>ACA480573906GRIP1c.1398G>T (p.Leu466=)
c.1329G>T (p.Leu443=)
c.1173G>T (p.Leu391=)
c.435G>T
c.874+7490G>T (n.874+7490G>T)
c.773G>T
c.1005G>T (p.Leu335=)
c.337+60185G>T (n.337+60185G>T)
c.631G>T
c.1332G>T (p.Leu444=)
c.1251G>T (p.Leu417=)
c.1554G>T (p.Leu518=)
c.1161G>T (p.Leu387=)
c.1248G>T (p.Leu416=)
c.1407G>T (p.Leu469=)
c.1176G>T (p.Leu392=)
12g.66455434C>GCA480573905GRIP1c.1398G>C (p.Leu466=)
c.1329G>C (p.Leu443=)
c.1173G>C (p.Leu391=)
c.435G>C
c.874+7490G>C (n.874+7490G>C)
c.773G>C
c.1005G>C (p.Leu335=)
c.337+60185G>C (n.337+60185G>C)
c.631G>C
c.1332G>C (p.Leu444=)
c.1251G>C (p.Leu417=)
c.1554G>C (p.Leu518=)
c.1161G>C (p.Leu387=)
c.1248G>C (p.Leu416=)
c.1407G>C (p.Leu469=)
c.1176G>C (p.Leu392=)
12g.66455434C>TCA480573904GRIP1c.1398G>A (p.Leu466=)
c.1329G>A (p.Leu443=)
c.1173G>A (p.Leu391=)
c.435G>A
c.874+7490G>A (n.874+7490G>A)
c.773G>A
c.1005G>A (p.Leu335=)
c.337+60185G>A (n.337+60185G>A)
c.631G>A
c.1332G>A (p.Leu444=)
c.1251G>A (p.Leu417=)
c.1554G>A (p.Leu518=)
c.1161G>A (p.Leu387=)
c.1248G>A (p.Leu416=)
c.1407G>A (p.Leu469=)
c.1176G>A (p.Leu392=)
12g.66455435A=CA2043057180GRIP1c.1397T= (p.Leu466=)
c.1328T= (p.Leu443=)
c.1172T= (p.Leu391=)
c.434T=
c.874+7489T= (n.874+7489T=)
c.772T=
c.1004T= (p.Leu335=)
c.337+60184T= (n.337+60184T=)
c.630T=
c.1331T= (p.Leu444=)
c.1250T= (p.Leu417=)
c.1553T= (p.Leu518=)
c.1160T= (p.Leu387=)
c.1247T= (p.Leu416=)
c.1406T= (p.Leu469=)
c.1175T= (p.Leu392=)
12g.66455435A>CCA385625787GRIP1c.1397T>G (p.Leu466Arg)
c.1328T>G (p.Leu443Arg)
c.1172T>G (p.Leu391Arg)
c.434T>G
c.874+7489T>G (n.874+7489T>G)
c.772T>G
c.1004T>G (p.Leu335Arg)
c.337+60184T>G (n.337+60184T>G)
c.630T>G
c.1331T>G (p.Leu444Arg)
c.1250T>G (p.Leu417Arg)
c.1553T>G (p.Leu518Arg)
c.1160T>G (p.Leu387Arg)
c.1247T>G (p.Leu416Arg)
c.1406T>G (p.Leu469Arg)
c.1175T>G (p.Leu392Arg)
12g.66455435A>GCA385625789GRIP1c.1397T>C (p.Leu466Pro)
c.1328T>C (p.Leu443Pro)
c.1172T>C (p.Leu391Pro)
c.434T>C
c.874+7489T>C (n.874+7489T>C)
c.772T>C
c.1004T>C (p.Leu335Pro)
c.337+60184T>C (n.337+60184T>C)
c.630T>C
c.1331T>C (p.Leu444Pro)
c.1250T>C (p.Leu417Pro)
c.1553T>C (p.Leu518Pro)
c.1160T>C (p.Leu387Pro)
c.1247T>C (p.Leu416Pro)
c.1406T>C (p.Leu469Pro)
c.1175T>C (p.Leu392Pro)
 dbSNP
12g.66455435A>TCA385625791GRIP1c.1397T>A (p.Leu466Gln)
c.1328T>A (p.Leu443Gln)
c.1172T>A (p.Leu391Gln)
c.434T>A
c.874+7489T>A (n.874+7489T>A)
c.772T>A
c.1004T>A (p.Leu335Gln)
c.337+60184T>A (n.337+60184T>A)
c.630T>A
c.1331T>A (p.Leu444Gln)
c.1250T>A (p.Leu417Gln)
c.1553T>A (p.Leu518Gln)
c.1160T>A (p.Leu387Gln)
c.1247T>A (p.Leu416Gln)
c.1406T>A (p.Leu469Gln)
c.1175T>A (p.Leu392Gln)
12g.66455436G>ACA480573907GRIP1c.1396C>T (p.Leu466=)
c.1327C>T (p.Leu443=)
c.1171C>T (p.Leu391=)
c.433C>T
c.874+7488C>T (n.874+7488C>T)
c.771C>T
c.1003C>T (p.Leu335=)
c.337+60183C>T (n.337+60183C>T)
c.629C>T
c.1330C>T (p.Leu444=)
c.1249C>T (p.Leu417=)
c.1552C>T (p.Leu518=)
c.1159C>T (p.Leu387=)
c.1246C>T (p.Leu416=)
c.1405C>T (p.Leu469=)
c.1174C>T (p.Leu392=)
 ClinVar
12g.66455436G>CCA385625797GRIP1c.1396C>G (p.Leu466Val)
c.1327C>G (p.Leu443Val)
c.1171C>G (p.Leu391Val)
c.433C>G
c.874+7488C>G (n.874+7488C>G)
c.771C>G
c.1003C>G (p.Leu335Val)
c.337+60183C>G (n.337+60183C>G)
c.629C>G
c.1330C>G (p.Leu444Val)
c.1249C>G (p.Leu417Val)
c.1552C>G (p.Leu518Val)
c.1159C>G (p.Leu387Val)
c.1246C>G (p.Leu416Val)
c.1405C>G (p.Leu469Val)
c.1174C>G (p.Leu392Val)
12g.66455436G>TCA385625794GRIP1c.1396C>A (p.Leu466Met)
c.1327C>A (p.Leu443Met)
c.1171C>A (p.Leu391Met)
c.433C>A
c.874+7488C>A (n.874+7488C>A)
c.771C>A
c.1003C>A (p.Leu335Met)
c.337+60183C>A (n.337+60183C>A)
c.629C>A
c.1330C>A (p.Leu444Met)
c.1249C>A (p.Leu417Met)
c.1552C>A (p.Leu518Met)
c.1159C>A (p.Leu387Met)
c.1246C>A (p.Leu416Met)
c.1405C>A (p.Leu469Met)
c.1174C>A (p.Leu392Met)
 gnomAD v4
12g.66455437T>ACA385625800GRIP1c.1395A>T (p.Arg465Ser)
c.1326A>T (p.Arg442Ser)
c.1170A>T (p.Arg390Ser)
c.432A>T
c.874+7487A>T (n.874+7487A>T)
c.770A>T
c.1002A>T (p.Arg334Ser)
c.337+60182A>T (n.337+60182A>T)
c.628A>T
c.1329A>T (p.Arg443Ser)
c.1248A>T (p.Arg416Ser)
c.1551A>T (p.Arg517Ser)
c.1158A>T (p.Arg386Ser)
c.1245A>T (p.Arg415Ser)
c.1404A>T (p.Arg468Ser)
c.1173A>T (p.Arg391Ser)
12g.66455437T>CCA480573908GRIP1c.1395A>G (p.Arg465=)
c.1326A>G (p.Arg442=)
c.1170A>G (p.Arg390=)
c.432A>G
c.874+7487A>G (n.874+7487A>G)
c.770A>G
c.1002A>G (p.Arg334=)
c.337+60182A>G (n.337+60182A>G)
c.628A>G
c.1329A>G (p.Arg443=)
c.1248A>G (p.Arg416=)
c.1551A>G (p.Arg517=)
c.1158A>G (p.Arg386=)
c.1245A>G (p.Arg415=)
c.1404A>G (p.Arg468=)
c.1173A>G (p.Arg391=)
 dbSNP gnomAD v2 gnomAD v4
12g.66455437T>GCA385625801GRIP1c.1395A>C (p.Arg465Ser)
c.1326A>C (p.Arg442Ser)
c.1170A>C (p.Arg390Ser)
c.432A>C
c.874+7487A>C (n.874+7487A>C)
c.770A>C
c.1002A>C (p.Arg334Ser)
c.337+60182A>C (n.337+60182A>C)
c.628A>C
c.1329A>C (p.Arg443Ser)
c.1248A>C (p.Arg416Ser)
c.1551A>C (p.Arg517Ser)
c.1158A>C (p.Arg386Ser)
c.1245A>C (p.Arg415Ser)
c.1404A>C (p.Arg468Ser)
c.1173A>C (p.Arg391Ser)
12g.66455437T=CA2043057181GRIP1c.1395A= (p.Arg465=)
c.1326A= (p.Arg442=)
c.1170A= (p.Arg390=)
c.432A=
c.874+7487A= (n.874+7487A=)
c.770A=
c.1002A= (p.Arg334=)
c.337+60182A= (n.337+60182A=)
c.628A=
c.1329A= (p.Arg443=)
c.1248A= (p.Arg416=)
c.1551A= (p.Arg517=)
c.1158A= (p.Arg386=)
c.1245A= (p.Arg415=)
c.1404A= (p.Arg468=)
c.1173A= (p.Arg391=)
12g.66455438C>ACA385625802GRIP1c.1394G>T (p.Arg465Ile)
c.1325G>T (p.Arg442Ile)
c.1169G>T (p.Arg390Ile)
c.431G>T
c.874+7486G>T (n.874+7486G>T)
c.769G>T
c.1001G>T (p.Arg334Ile)
c.337+60181G>T (n.337+60181G>T)
c.627G>T
c.1328G>T (p.Arg443Ile)
c.1247G>T (p.Arg416Ile)
c.1550G>T (p.Arg517Ile)
c.1157G>T (p.Arg386Ile)
c.1244G>T (p.Arg415Ile)
c.1403G>T (p.Arg468Ile)
c.1172G>T (p.Arg391Ile)
12g.66455438C>GCA385625803GRIP1c.1394G>C (p.Arg465Thr)
c.1325G>C (p.Arg442Thr)
c.1169G>C (p.Arg390Thr)
c.431G>C
c.874+7486G>C (n.874+7486G>C)
c.769G>C
c.1001G>C (p.Arg334Thr)
c.337+60181G>C (n.337+60181G>C)
c.627G>C
c.1328G>C (p.Arg443Thr)
c.1247G>C (p.Arg416Thr)
c.1550G>C (p.Arg517Thr)
c.1157G>C (p.Arg386Thr)
c.1244G>C (p.Arg415Thr)
c.1403G>C (p.Arg468Thr)
c.1172G>C (p.Arg391Thr)
12g.66455438C>TCA385625804GRIP1c.1394G>A (p.Arg465Lys)
c.1325G>A (p.Arg442Lys)
c.1169G>A (p.Arg390Lys)
c.431G>A
c.874+7486G>A (n.874+7486G>A)
c.769G>A
c.1001G>A (p.Arg334Lys)
c.337+60181G>A (n.337+60181G>A)
c.627G>A
c.1328G>A (p.Arg443Lys)
c.1247G>A (p.Arg416Lys)
c.1550G>A (p.Arg517Lys)
c.1157G>A (p.Arg386Lys)
c.1244G>A (p.Arg415Lys)
c.1403G>A (p.Arg468Lys)
c.1172G>A (p.Arg391Lys)
12g.66455439T>ACA385625805GRIP1c.1393A>T (p.Arg465Ter)
c.1324A>T (p.Arg442Ter)
c.1168A>T (p.Arg390Ter)
c.430A>T
c.874+7485A>T (n.874+7485A>T)
c.768A>T
c.1000A>T (p.Arg334Ter)
c.337+60180A>T (n.337+60180A>T)
c.626A>T
c.1327A>T (p.Arg443Ter)
c.1246A>T (p.Arg416Ter)
c.1549A>T (p.Arg517Ter)
c.1156A>T (p.Arg386Ter)
c.1243A>T (p.Arg415Ter)
c.1402A>T (p.Arg468Ter)
c.1171A>T (p.Arg391Ter)
12g.66455439T>CCA385625807GRIP1c.1393A>G (p.Arg465Gly)
c.1324A>G (p.Arg442Gly)
c.1168A>G (p.Arg390Gly)
c.430A>G
c.874+7485A>G (n.874+7485A>G)
c.768A>G
c.1000A>G (p.Arg334Gly)
c.337+60180A>G (n.337+60180A>G)
c.626A>G
c.1327A>G (p.Arg443Gly)
c.1246A>G (p.Arg416Gly)
c.1549A>G (p.Arg517Gly)
c.1156A>G (p.Arg386Gly)
c.1243A>G (p.Arg415Gly)
c.1402A>G (p.Arg468Gly)
c.1171A>G (p.Arg391Gly)
12g.66455439T>GCA480573909GRIP1c.1393A>C (p.Arg465=)
c.1324A>C (p.Arg442=)
c.1168A>C (p.Arg390=)
c.430A>C
c.874+7485A>C (n.874+7485A>C)
c.768A>C
c.1000A>C (p.Arg334=)
c.337+60180A>C (n.337+60180A>C)
c.626A>C
c.1327A>C (p.Arg443=)
c.1246A>C (p.Arg416=)
c.1549A>C (p.Arg517=)
c.1156A>C (p.Arg386=)
c.1243A>C (p.Arg415=)
c.1402A>C (p.Arg468=)
c.1171A>C (p.Arg391=)
12g.66455440C>ACA385625809GRIP1c.1392G>T (p.Arg464Ser)
c.1323G>T (p.Arg441Ser)
c.1167G>T (p.Arg389Ser)
c.429G>T
c.874+7484G>T (n.874+7484G>T)
c.767G>T
c.999G>T (p.Arg333Ser)
c.337+60179G>T (n.337+60179G>T)
c.625G>T
c.1326G>T (p.Arg442Ser)
c.1245G>T (p.Arg415Ser)
c.1548G>T (p.Arg516Ser)
c.1155G>T (p.Arg385Ser)
c.1242G>T (p.Arg414Ser)
c.1401G>T (p.Arg467Ser)
c.1170G>T (p.Arg390Ser)
12g.66455440C=CA2043057182GRIP1c.1392G= (p.Arg464=)
c.1323G= (p.Arg441=)
c.1167G= (p.Arg389=)
c.429G=
c.874+7484G= (n.874+7484G=)
c.767G=
c.999G= (p.Arg333=)
c.337+60179G= (n.337+60179G=)
c.625G=
c.1326G= (p.Arg442=)
c.1245G= (p.Arg415=)
c.1548G= (p.Arg516=)
c.1155G= (p.Arg385=)
c.1242G= (p.Arg414=)
c.1401G= (p.Arg467=)
c.1170G= (p.Arg390=)
12g.66455440C>GCA385625810GRIP1c.1392G>C (p.Arg464Ser)
c.1323G>C (p.Arg441Ser)
c.1167G>C (p.Arg389Ser)
c.429G>C
c.874+7484G>C (n.874+7484G>C)
c.767G>C
c.999G>C (p.Arg333Ser)
c.337+60179G>C (n.337+60179G>C)
c.625G>C
c.1326G>C (p.Arg442Ser)
c.1245G>C (p.Arg415Ser)
c.1548G>C (p.Arg516Ser)
c.1155G>C (p.Arg385Ser)
c.1242G>C (p.Arg414Ser)
c.1401G>C (p.Arg467Ser)
c.1170G>C (p.Arg390Ser)
12g.66455440C>TCA480573910GRIP1c.1392G>A (p.Arg464=)
c.1323G>A (p.Arg441=)
c.1167G>A (p.Arg389=)
c.429G>A
c.874+7484G>A (n.874+7484G>A)
c.767G>A
c.999G>A (p.Arg333=)
c.337+60179G>A (n.337+60179G>A)
c.625G>A
c.1326G>A (p.Arg442=)
c.1245G>A (p.Arg415=)
c.1548G>A (p.Arg516=)
c.1155G>A (p.Arg385=)
c.1242G>A (p.Arg414=)
c.1401G>A (p.Arg467=)
c.1170G>A (p.Arg390=)
 dbSNP gnomAD v4
12g.66455441C>ACA385625811GRIP1c.1391G>T (p.Arg464Met)
c.1322G>T (p.Arg441Met)
c.1166G>T (p.Arg389Met)
c.428G>T
c.874+7483G>T (n.874+7483G>T)
c.766G>T
c.998G>T (p.Arg333Met)
c.337+60178G>T (n.337+60178G>T)
c.624G>T
c.1325G>T (p.Arg442Met)
c.1244G>T (p.Arg415Met)
c.1547G>T (p.Arg516Met)
c.1154G>T (p.Arg385Met)
c.1241G>T (p.Arg414Met)
c.1400G>T (p.Arg467Met)
c.1169G>T (p.Arg390Met)
12g.66455441C=CA2043057183GRIP1c.1391G= (p.Arg464=)
c.1322G= (p.Arg441=)
c.1166G= (p.Arg389=)
c.428G=
c.874+7483G= (n.874+7483G=)
c.766G=
c.998G= (p.Arg333=)
c.337+60178G= (n.337+60178G=)
c.624G=
c.1325G= (p.Arg442=)
c.1244G= (p.Arg415=)
c.1547G= (p.Arg516=)
c.1154G= (p.Arg385=)
c.1241G= (p.Arg414=)
c.1400G= (p.Arg467=)
c.1169G= (p.Arg390=)
12g.66455441C>GCA385625812GRIP1c.1391G>C (p.Arg464Thr)
c.1322G>C (p.Arg441Thr)
c.1166G>C (p.Arg389Thr)
c.428G>C
c.874+7483G>C (n.874+7483G>C)
c.766G>C
c.998G>C (p.Arg333Thr)
c.337+60178G>C (n.337+60178G>C)
c.624G>C
c.1325G>C (p.Arg442Thr)
c.1244G>C (p.Arg415Thr)
c.1547G>C (p.Arg516Thr)
c.1154G>C (p.Arg385Thr)
c.1241G>C (p.Arg414Thr)
c.1400G>C (p.Arg467Thr)
c.1169G>C (p.Arg390Thr)
12g.66455441C>TCA385625813GRIP1c.1391G>A (p.Arg464Lys)
c.1322G>A (p.Arg441Lys)
c.1166G>A (p.Arg389Lys)
c.428G>A
c.874+7483G>A (n.874+7483G>A)
c.766G>A
c.998G>A (p.Arg333Lys)
c.337+60178G>A (n.337+60178G>A)
c.624G>A
c.1325G>A (p.Arg442Lys)
c.1244G>A (p.Arg415Lys)
c.1547G>A (p.Arg516Lys)
c.1154G>A (p.Arg385Lys)
c.1241G>A (p.Arg414Lys)
c.1400G>A (p.Arg467Lys)
c.1169G>A (p.Arg390Lys)
 dbSNP
12g.66455442T>ACA385625819GRIP1c.1390A>T (p.Arg464Trp)
c.1321A>T (p.Arg441Trp)
c.1165A>T (p.Arg389Trp)
c.427A>T
c.874+7482A>T (n.874+7482A>T)
c.765A>T
c.997A>T (p.Arg333Trp)
c.337+60177A>T (n.337+60177A>T)
c.623A>T
c.1324A>T (p.Arg442Trp)
c.1243A>T (p.Arg415Trp)
c.1546A>T (p.Arg516Trp)
c.1153A>T (p.Arg385Trp)
c.1240A>T (p.Arg414Trp)
c.1399A>T (p.Arg467Trp)
c.1168A>T (p.Arg390Trp)
12g.66455442T>CCA385625815GRIP1c.1390A>G (p.Arg464Gly)
c.1321A>G (p.Arg441Gly)
c.1165A>G (p.Arg389Gly)
c.427A>G
c.874+7482A>G (n.874+7482A>G)
c.765A>G
c.997A>G (p.Arg333Gly)
c.337+60177A>G (n.337+60177A>G)
c.623A>G
c.1324A>G (p.Arg442Gly)
c.1243A>G (p.Arg415Gly)
c.1546A>G (p.Arg516Gly)
c.1153A>G (p.Arg385Gly)
c.1240A>G (p.Arg414Gly)
c.1399A>G (p.Arg467Gly)
c.1168A>G (p.Arg390Gly)
12g.66455442T>GCA6674414GRIP1c.1390A>C (p.Arg464=)
c.1321A>C (p.Arg441=)
c.1165A>C (p.Arg389=)
c.427A>C
c.874+7482A>C (n.874+7482A>C)
c.765A>C
c.997A>C (p.Arg333=)
c.337+60177A>C (n.337+60177A>C)
c.623A>C
c.1324A>C (p.Arg442=)
c.1243A>C (p.Arg415=)
c.1546A>C (p.Arg516=)
c.1153A>C (p.Arg385=)
c.1240A>C (p.Arg414=)
c.1399A>C (p.Arg467=)
c.1168A>C (p.Arg390=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.66455442T=CA2043057184GRIP1c.1390A= (p.Arg464=)
c.1321A= (p.Arg441=)
c.1165A= (p.Arg389=)
c.427A=
c.874+7482A= (n.874+7482A=)
c.765A=
c.997A= (p.Arg333=)
c.337+60177A= (n.337+60177A=)
c.623A=
c.1324A= (p.Arg442=)
c.1243A= (p.Arg415=)
c.1546A= (p.Arg516=)
c.1153A= (p.Arg385=)
c.1240A= (p.Arg414=)
c.1399A= (p.Arg467=)
c.1168A= (p.Arg390=)
12g.66455443C>ACA385625822GRIP1c.1389G>T (p.Arg463Ser)
c.1320G>T (p.Arg440Ser)
c.1164G>T (p.Arg388Ser)
c.426G>T
c.874+7481G>T (n.874+7481G>T)
c.764G>T
c.996G>T (p.Arg332Ser)
c.337+60176G>T (n.337+60176G>T)
c.622G>T
c.1323G>T (p.Arg441Ser)
c.1242G>T (p.Arg414Ser)
c.1545G>T (p.Arg515Ser)
c.1152G>T (p.Arg384Ser)
c.1239G>T (p.Arg413Ser)
c.1398G>T (p.Arg466Ser)
c.1167G>T (p.Arg389Ser)
12g.66455443C>GCA385625825GRIP1c.1389G>C (p.Arg463Ser)
c.1320G>C (p.Arg440Ser)
c.1164G>C (p.Arg388Ser)
c.426G>C
c.874+7481G>C (n.874+7481G>C)
c.764G>C
c.996G>C (p.Arg332Ser)
c.337+60176G>C (n.337+60176G>C)
c.622G>C
c.1323G>C (p.Arg441Ser)
c.1242G>C (p.Arg414Ser)
c.1545G>C (p.Arg515Ser)
c.1152G>C (p.Arg384Ser)
c.1239G>C (p.Arg413Ser)
c.1398G>C (p.Arg466Ser)
c.1167G>C (p.Arg389Ser)
12g.66455443C>TCA480573911GRIP1c.1389G>A (p.Arg463=)
c.1320G>A (p.Arg440=)
c.1164G>A (p.Arg388=)
c.426G>A
c.874+7481G>A (n.874+7481G>A)
c.764G>A
c.996G>A (p.Arg332=)
c.337+60176G>A (n.337+60176G>A)
c.622G>A
c.1323G>A (p.Arg441=)
c.1242G>A (p.Arg414=)
c.1545G>A (p.Arg515=)
c.1152G>A (p.Arg384=)
c.1239G>A (p.Arg413=)
c.1398G>A (p.Arg466=)
c.1167G>A (p.Arg389=)
12g.66455443_66455444insAAGACCGTAAGATTCAAGTTTTTCCACCAGGTCCATTTCCCATGCGTTGAACTCCTGACCTTCAGTTATCTTTTTCAGACTGCCCCA2548432793GRIP1c.1389_1390insGGCAGTCTGAAAAAGATAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTG (p.Arg464GlyfsTer?)
c.1320_1321insGGCAGTCTGAAAAAGATAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTG (p.Arg441GlyfsTer?)
c.1164_1165insGGCAGTCTGAAAAAGATAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTG (p.Arg389GlyfsTer?)
c.426_427insGGCAGTCTGAAAAAGATAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTG
c.874+7481_874+7482insGGCAGTCTGAAAAAGATAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTG (n.874+7481_874+7482insGGCAGTCTGAAAAAGATAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTG)
c.764_765insGGCAGTCTGAAAAAGATAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTG
c.996_997insGGCAGTCTGAAAAAGATAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTG (p.Arg333GlyfsTer?)
c.337+60176_337+60177insGGCAGTCTGAAAAAGATAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTG (n.337+60176_337+60177insGGCAGTCTGAAAAAGATAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTG)
c.622_623insGGCAGTCTGAAAAAGATAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTG
c.1323_1324insGGCAGTCTGAAAAAGATAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTG (p.Arg442GlyfsTer?)
c.1242_1243insGGCAGTCTGAAAAAGATAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTG (p.Arg415GlyfsTer?)
c.1545_1546insGGCAGTCTGAAAAAGATAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTG (p.Arg516GlyfsTer?)
c.1152_1153insGGCAGTCTGAAAAAGATAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTG (p.Arg385GlyfsTer?)
c.1239_1240insGGCAGTCTGAAAAAGATAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTG (p.Arg414GlyfsTer?)
c.1398_1399insGGCAGTCTGAAAAAGATAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTG (p.Arg467GlyfsTer?)
c.1167_1168insGGCAGTCTGAAAAAGATAACTGAAGGTCAGGAGTTCAACGCATGGGAAATGGACCTGGTGGAAAAACTTGAATCTTACGGTCTTG (p.Arg390GlyfsTer?)
12g.66455444C>ACA385625829GRIP1c.1388G>T (p.Arg463Met)
c.1319G>T (p.Arg440Met)
c.1163G>T (p.Arg388Met)
c.425G>T
c.874+7480G>T (n.874+7480G>T)
c.763G>T
c.995G>T (p.Arg332Met)
c.337+60175G>T (n.337+60175G>T)
c.621G>T
c.1322G>T (p.Arg441Met)
c.1241G>T (p.Arg414Met)
c.1544G>T (p.Arg515Met)
c.1151G>T (p.Arg384Met)
c.1238G>T (p.Arg413Met)
c.1397G>T (p.Arg466Met)
c.1166G>T (p.Arg389Met)
12g.66455444C>GCA385625832GRIP1c.1388G>C (p.Arg463Thr)
c.1319G>C (p.Arg440Thr)
c.1163G>C (p.Arg388Thr)
c.425G>C
c.874+7480G>C (n.874+7480G>C)
c.763G>C
c.995G>C (p.Arg332Thr)
c.337+60175G>C (n.337+60175G>C)
c.621G>C
c.1322G>C (p.Arg441Thr)
c.1241G>C (p.Arg414Thr)
c.1544G>C (p.Arg515Thr)
c.1151G>C (p.Arg384Thr)
c.1238G>C (p.Arg413Thr)
c.1397G>C (p.Arg466Thr)
c.1166G>C (p.Arg389Thr)
12g.66455444C>TCA385625834GRIP1c.1388G>A (p.Arg463Lys)
c.1319G>A (p.Arg440Lys)
c.1163G>A (p.Arg388Lys)
c.425G>A
c.874+7480G>A (n.874+7480G>A)
c.763G>A
c.995G>A (p.Arg332Lys)
c.337+60175G>A (n.337+60175G>A)
c.621G>A
c.1322G>A (p.Arg441Lys)
c.1241G>A (p.Arg414Lys)
c.1544G>A (p.Arg515Lys)
c.1151G>A (p.Arg384Lys)
c.1238G>A (p.Arg413Lys)
c.1397G>A (p.Arg466Lys)
c.1166G>A (p.Arg389Lys)
12g.66455445T>ACA385625836GRIP1c.1387A>T (p.Arg463Trp)
c.1318A>T (p.Arg440Trp)
c.1162A>T (p.Arg388Trp)
c.424A>T
c.874+7479A>T (n.874+7479A>T)
c.762A>T
c.994A>T (p.Arg332Trp)
c.337+60174A>T (n.337+60174A>T)
c.620A>T
c.1321A>T (p.Arg441Trp)
c.1240A>T (p.Arg414Trp)
c.1543A>T (p.Arg515Trp)
c.1150A>T (p.Arg384Trp)
c.1237A>T (p.Arg413Trp)
c.1396A>T (p.Arg466Trp)
c.1165A>T (p.Arg389Trp)
 gnomAD v4
12g.66455445T>CCA385625839GRIP1c.1387A>G (p.Arg463Gly)
c.1318A>G (p.Arg440Gly)
c.1162A>G (p.Arg388Gly)
c.424A>G
c.874+7479A>G (n.874+7479A>G)
c.762A>G
c.994A>G (p.Arg332Gly)
c.337+60174A>G (n.337+60174A>G)
c.620A>G
c.1321A>G (p.Arg441Gly)
c.1240A>G (p.Arg414Gly)
c.1543A>G (p.Arg515Gly)
c.1150A>G (p.Arg384Gly)
c.1237A>G (p.Arg413Gly)
c.1396A>G (p.Arg466Gly)
c.1165A>G (p.Arg389Gly)
 gnomAD v4
12g.66455445T>GCA480573912GRIP1c.1387A>C (p.Arg463=)
c.1318A>C (p.Arg440=)
c.1162A>C (p.Arg388=)
c.424A>C
c.874+7479A>C (n.874+7479A>C)
c.762A>C
c.994A>C (p.Arg332=)
c.337+60174A>C (n.337+60174A>C)
c.620A>C
c.1321A>C (p.Arg441=)
c.1240A>C (p.Arg414=)
c.1543A>C (p.Arg515=)
c.1150A>C (p.Arg384=)
c.1237A>C (p.Arg413=)
c.1396A>C (p.Arg466=)
c.1165A>C (p.Arg389=)
12g.66455446C>ACA385625842GRIP1c.1386G>T (p.Met462Ile)
c.1317G>T (p.Met439Ile)
c.1161G>T (p.Met387Ile)
c.423G>T
c.874+7478G>T (n.874+7478G>T)
c.761G>T
c.993G>T (p.Met331Ile)
c.337+60173G>T (n.337+60173G>T)
c.619G>T
c.1320G>T (p.Met440Ile)
c.1239G>T (p.Met413Ile)
c.1542G>T (p.Met514Ile)
c.1149G>T (p.Met383Ile)
c.1236G>T (p.Met412Ile)
c.1395G>T (p.Met465Ile)
c.1164G>T (p.Met388Ile)
12g.66455446C>GCA385625845GRIP1c.1386G>C (p.Met462Ile)
c.1317G>C (p.Met439Ile)
c.1161G>C (p.Met387Ile)
c.423G>C
c.874+7478G>C (n.874+7478G>C)
c.761G>C
c.993G>C (p.Met331Ile)
c.337+60173G>C (n.337+60173G>C)
c.619G>C
c.1320G>C (p.Met440Ile)
c.1239G>C (p.Met413Ile)
c.1542G>C (p.Met514Ile)
c.1149G>C (p.Met383Ile)
c.1236G>C (p.Met412Ile)
c.1395G>C (p.Met465Ile)
c.1164G>C (p.Met388Ile)
12g.66455446C>TCA385625846GRIP1c.1386G>A (p.Met462Ile)
c.1317G>A (p.Met439Ile)
c.1161G>A (p.Met387Ile)
c.423G>A
c.874+7478G>A (n.874+7478G>A)
c.761G>A
c.993G>A (p.Met331Ile)
c.337+60173G>A (n.337+60173G>A)
c.619G>A
c.1320G>A (p.Met440Ile)
c.1239G>A (p.Met413Ile)
c.1542G>A (p.Met514Ile)
c.1149G>A (p.Met383Ile)
c.1236G>A (p.Met412Ile)
c.1395G>A (p.Met465Ile)
c.1164G>A (p.Met388Ile)
 gnomAD v4
12g.66455447A>CCA385625849GRIP1c.1385T>G (p.Met462Arg)
c.1316T>G (p.Met439Arg)
c.1160T>G (p.Met387Arg)
c.422T>G
c.874+7477T>G (n.874+7477T>G)
c.760T>G
c.992T>G (p.Met331Arg)
c.337+60172T>G (n.337+60172T>G)
c.618T>G
c.1319T>G (p.Met440Arg)
c.1238T>G (p.Met413Arg)
c.1541T>G (p.Met514Arg)
c.1148T>G (p.Met383Arg)
c.1235T>G (p.Met412Arg)
c.1394T>G (p.Met465Arg)
c.1163T>G (p.Met388Arg)
12g.66455447A>GCA385625852GRIP1c.1385T>C (p.Met462Thr)
c.1316T>C (p.Met439Thr)
c.1160T>C (p.Met387Thr)
c.422T>C
c.874+7477T>C (n.874+7477T>C)
c.760T>C
c.992T>C (p.Met331Thr)
c.337+60172T>C (n.337+60172T>C)
c.618T>C
c.1319T>C (p.Met440Thr)
c.1238T>C (p.Met413Thr)
c.1541T>C (p.Met514Thr)
c.1148T>C (p.Met383Thr)
c.1235T>C (p.Met412Thr)
c.1394T>C (p.Met465Thr)
c.1163T>C (p.Met388Thr)
12g.66455447A>TCA385625853GRIP1c.1385T>A (p.Met462Lys)
c.1316T>A (p.Met439Lys)
c.1160T>A (p.Met387Lys)
c.422T>A
c.874+7477T>A (n.874+7477T>A)
c.760T>A
c.992T>A (p.Met331Lys)
c.337+60172T>A (n.337+60172T>A)
c.618T>A
c.1319T>A (p.Met440Lys)
c.1238T>A (p.Met413Lys)
c.1541T>A (p.Met514Lys)
c.1148T>A (p.Met383Lys)
c.1235T>A (p.Met412Lys)
c.1394T>A (p.Met465Lys)
c.1163T>A (p.Met388Lys)
12g.66455448T>ACA385625863GRIP1c.1384A>T (p.Met462Leu)
c.1315A>T (p.Met439Leu)
c.1159A>T (p.Met387Leu)
c.421A>T
c.874+7476A>T (n.874+7476A>T)
c.759A>T
c.991A>T (p.Met331Leu)
c.337+60171A>T (n.337+60171A>T)
c.617A>T
c.1318A>T (p.Met440Leu)
c.1237A>T (p.Met413Leu)
c.1540A>T (p.Met514Leu)
c.1147A>T (p.Met383Leu)
c.1234A>T (p.Met412Leu)
c.1393A>T (p.Met465Leu)
c.1162A>T (p.Met388Leu)
 gnomAD v4
12g.66455448T>CCA385625865GRIP1c.1384A>G (p.Met462Val)
c.1315A>G (p.Met439Val)
c.1159A>G (p.Met387Val)
c.421A>G
c.874+7476A>G (n.874+7476A>G)
c.759A>G
c.991A>G (p.Met331Val)
c.337+60171A>G (n.337+60171A>G)
c.617A>G
c.1318A>G (p.Met440Val)
c.1237A>G (p.Met413Val)
c.1540A>G (p.Met514Val)
c.1147A>G (p.Met383Val)
c.1234A>G (p.Met412Val)
c.1393A>G (p.Met465Val)
c.1162A>G (p.Met388Val)
12g.66455448T>GCA385625860GRIP1c.1384A>C (p.Met462Leu)
c.1315A>C (p.Met439Leu)
c.1159A>C (p.Met387Leu)
c.421A>C
c.874+7476A>C (n.874+7476A>C)
c.759A>C
c.991A>C (p.Met331Leu)
c.337+60171A>C (n.337+60171A>C)
c.617A>C
c.1318A>C (p.Met440Leu)
c.1237A>C (p.Met413Leu)
c.1540A>C (p.Met514Leu)
c.1147A>C (p.Met383Leu)
c.1234A>C (p.Met412Leu)
c.1393A>C (p.Met465Leu)
c.1162A>C (p.Met388Leu)
12g.66455449C>ACA385625869GRIP1c.1383G>T (p.Met461Ile)
c.1314G>T (p.Met438Ile)
c.1158G>T (p.Met386Ile)
c.420G>T
c.874+7475G>T (n.874+7475G>T)
c.758G>T
c.990G>T (p.Met330Ile)
c.337+60170G>T (n.337+60170G>T)
c.616G>T
c.1317G>T (p.Met439Ile)
c.1236G>T (p.Met412Ile)
c.1539G>T (p.Met513Ile)
c.1146G>T (p.Met382Ile)
c.1233G>T (p.Met411Ile)
c.1392G>T (p.Met464Ile)
c.1161G>T (p.Met387Ile)
12g.66455449C=CA2043057185GRIP1c.1383G= (p.Met461=)
c.1314G= (p.Met438=)
c.1158G= (p.Met386=)
c.420G=
c.874+7475G= (n.874+7475G=)
c.758G=
c.990G= (p.Met330=)
c.337+60170G= (n.337+60170G=)
c.616G=
c.1317G= (p.Met439=)
c.1236G= (p.Met412=)
c.1539G= (p.Met513=)
c.1146G= (p.Met382=)
c.1233G= (p.Met411=)
c.1392G= (p.Met464=)
c.1161G= (p.Met387=)
12g.66455449C>GCA385625866GRIP1c.1383G>C (p.Met461Ile)
c.1314G>C (p.Met438Ile)
c.1158G>C (p.Met386Ile)
c.420G>C
c.874+7475G>C (n.874+7475G>C)
c.758G>C
c.990G>C (p.Met330Ile)
c.337+60170G>C (n.337+60170G>C)
c.616G>C
c.1317G>C (p.Met439Ile)
c.1236G>C (p.Met412Ile)
c.1539G>C (p.Met513Ile)
c.1146G>C (p.Met382Ile)
c.1233G>C (p.Met411Ile)
c.1392G>C (p.Met464Ile)
c.1161G>C (p.Met387Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.66455449C>TCA385625868GRIP1c.1383G>A (p.Met461Ile)
c.1314G>A (p.Met438Ile)
c.1158G>A (p.Met386Ile)
c.420G>A
c.874+7475G>A (n.874+7475G>A)
c.758G>A
c.990G>A (p.Met330Ile)
c.337+60170G>A (n.337+60170G>A)
c.616G>A
c.1317G>A (p.Met439Ile)
c.1236G>A (p.Met412Ile)
c.1539G>A (p.Met513Ile)
c.1146G>A (p.Met382Ile)
c.1233G>A (p.Met411Ile)
c.1392G>A (p.Met464Ile)
c.1161G>A (p.Met387Ile)
 dbSNP
12g.66455450A=CA2043057186GRIP1c.1382T= (p.Met461=)
c.1313T= (p.Met438=)
c.1157T= (p.Met386=)
c.419T=
c.874+7474T= (n.874+7474T=)
c.757T=
c.989T= (p.Met330=)
c.337+60169T= (n.337+60169T=)
c.615T=
c.1316T= (p.Met439=)
c.1235T= (p.Met412=)
c.1538T= (p.Met513=)
c.1145T= (p.Met382=)
c.1232T= (p.Met411=)
c.1391T= (p.Met464=)
c.1160T= (p.Met387=)
12g.66455450A>CCA385625870GRIP1c.1382T>G (p.Met461Arg)
c.1313T>G (p.Met438Arg)
c.1157T>G (p.Met386Arg)
c.419T>G
c.874+7474T>G (n.874+7474T>G)
c.757T>G
c.989T>G (p.Met330Arg)
c.337+60169T>G (n.337+60169T>G)
c.615T>G
c.1316T>G (p.Met439Arg)
c.1235T>G (p.Met412Arg)
c.1538T>G (p.Met513Arg)
c.1145T>G (p.Met382Arg)
c.1232T>G (p.Met411Arg)
c.1391T>G (p.Met464Arg)
c.1160T>G (p.Met387Arg)
 dbSNP gnomAD v2 gnomAD v4
12g.66455450A>GCA385625871GRIP1c.1382T>C (p.Met461Thr)
c.1313T>C (p.Met438Thr)
c.1157T>C (p.Met386Thr)
c.419T>C
c.874+7474T>C (n.874+7474T>C)
c.757T>C
c.989T>C (p.Met330Thr)
c.337+60169T>C (n.337+60169T>C)
c.615T>C
c.1316T>C (p.Met439Thr)
c.1235T>C (p.Met412Thr)
c.1538T>C (p.Met513Thr)
c.1145T>C (p.Met382Thr)
c.1232T>C (p.Met411Thr)
c.1391T>C (p.Met464Thr)
c.1160T>C (p.Met387Thr)
 gnomAD v4
12g.66455450A>TCA385625872GRIP1c.1382T>A (p.Met461Lys)
c.1313T>A (p.Met438Lys)
c.1157T>A (p.Met386Lys)
c.419T>A
c.874+7474T>A (n.874+7474T>A)
c.757T>A
c.989T>A (p.Met330Lys)
c.337+60169T>A (n.337+60169T>A)
c.615T>A
c.1316T>A (p.Met439Lys)
c.1235T>A (p.Met412Lys)
c.1538T>A (p.Met513Lys)
c.1145T>A (p.Met382Lys)
c.1232T>A (p.Met411Lys)
c.1391T>A (p.Met464Lys)
c.1160T>A (p.Met387Lys)
12g.66455451T>ACA385625874GRIP1c.1381A>T (p.Met461Leu)
c.1312A>T (p.Met438Leu)
c.1156A>T (p.Met386Leu)
c.418A>T
c.874+7473A>T (n.874+7473A>T)
c.756A>T
c.988A>T (p.Met330Leu)
c.337+60168A>T (n.337+60168A>T)
c.614A>T
c.1315A>T (p.Met439Leu)
c.1234A>T (p.Met412Leu)
c.1537A>T (p.Met513Leu)
c.1144A>T (p.Met382Leu)
c.1231A>T (p.Met411Leu)
c.1390A>T (p.Met464Leu)
c.1159A>T (p.Met387Leu)
12g.66455451T>CCA385625877GRIP1c.1381A>G (p.Met461Val)
c.1312A>G (p.Met438Val)
c.1156A>G (p.Met386Val)
c.418A>G
c.874+7473A>G (n.874+7473A>G)
c.756A>G
c.988A>G (p.Met330Val)
c.337+60168A>G (n.337+60168A>G)
c.614A>G
c.1315A>G (p.Met439Val)
c.1234A>G (p.Met412Val)
c.1537A>G (p.Met513Val)
c.1144A>G (p.Met382Val)
c.1231A>G (p.Met411Val)
c.1390A>G (p.Met464Val)
c.1159A>G (p.Met387Val)
 gnomAD v4
12g.66455451T>GCA385625879GRIP1c.1381A>C (p.Met461Leu)
c.1312A>C (p.Met438Leu)
c.1156A>C (p.Met386Leu)
c.418A>C
c.874+7473A>C (n.874+7473A>C)
c.756A>C
c.988A>C (p.Met330Leu)
c.337+60168A>C (n.337+60168A>C)
c.614A>C
c.1315A>C (p.Met439Leu)
c.1234A>C (p.Met412Leu)
c.1537A>C (p.Met513Leu)
c.1144A>C (p.Met382Leu)
c.1231A>C (p.Met411Leu)
c.1390A>C (p.Met464Leu)
c.1159A>C (p.Met387Leu)
12g.66455452G>ACA480573913GRIP1c.1380C>T (p.Thr460=)
c.1311C>T (p.Thr437=)
c.1155C>T (p.Thr385=)
c.417C>T
c.874+7472C>T (n.874+7472C>T)
c.755C>T
c.987C>T (p.Thr329=)
c.337+60167C>T (n.337+60167C>T)
c.613C>T
c.1314C>T (p.Thr438=)
c.1233C>T (p.Thr411=)
c.1536C>T (p.Thr512=)
c.1143C>T (p.Thr381=)
c.1230C>T (p.Thr410=)
c.1389C>T (p.Thr463=)
c.1158C>T (p.Thr386=)
12g.66455452G>CCA480573914GRIP1c.1380C>G (p.Thr460=)
c.1311C>G (p.Thr437=)
c.1155C>G (p.Thr385=)
c.417C>G
c.874+7472C>G (n.874+7472C>G)
c.755C>G
c.987C>G (p.Thr329=)
c.337+60167C>G (n.337+60167C>G)
c.613C>G
c.1314C>G (p.Thr438=)
c.1233C>G (p.Thr411=)
c.1536C>G (p.Thr512=)
c.1143C>G (p.Thr381=)
c.1230C>G (p.Thr410=)
c.1389C>G (p.Thr463=)
c.1158C>G (p.Thr386=)
12g.66455452G>TCA480573915GRIP1c.1380C>A (p.Thr460=)
c.1311C>A (p.Thr437=)
c.1155C>A (p.Thr385=)
c.417C>A
c.874+7472C>A (n.874+7472C>A)
c.755C>A
c.987C>A (p.Thr329=)
c.337+60167C>A (n.337+60167C>A)
c.613C>A
c.1314C>A (p.Thr438=)
c.1233C>A (p.Thr411=)
c.1536C>A (p.Thr512=)
c.1143C>A (p.Thr381=)
c.1230C>A (p.Thr410=)
c.1389C>A (p.Thr463=)
c.1158C>A (p.Thr386=)
12g.66455453G>ACA385625880GRIP1c.1379C>T (p.Thr460Ile)
c.1310C>T (p.Thr437Ile)
c.1154C>T (p.Thr385Ile)
c.416C>T
c.874+7471C>T (n.874+7471C>T)
c.754C>T
c.986C>T (p.Thr329Ile)
c.337+60166C>T (n.337+60166C>T)
c.612C>T
c.1313C>T (p.Thr438Ile)
c.1232C>T (p.Thr411Ile)
c.1535C>T (p.Thr512Ile)
c.1142C>T (p.Thr381Ile)
c.1229C>T (p.Thr410Ile)
c.1388C>T (p.Thr463Ile)
c.1157C>T (p.Thr386Ile)
12g.66455453G>CCA385625882GRIP1c.1379C>G (p.Thr460Ser)
c.1310C>G (p.Thr437Ser)
c.1154C>G (p.Thr385Ser)
c.416C>G
c.874+7471C>G (n.874+7471C>G)
c.754C>G
c.986C>G (p.Thr329Ser)
c.337+60166C>G (n.337+60166C>G)
c.612C>G
c.1313C>G (p.Thr438Ser)
c.1232C>G (p.Thr411Ser)
c.1535C>G (p.Thr512Ser)
c.1142C>G (p.Thr381Ser)
c.1229C>G (p.Thr410Ser)
c.1388C>G (p.Thr463Ser)
c.1157C>G (p.Thr386Ser)
 dbSNP gnomAD v3 gnomAD v4
12g.66455453G=CA2043057187GRIP1c.1379C= (p.Thr460=)
c.1310C= (p.Thr437=)
c.1154C= (p.Thr385=)
c.416C=
c.874+7471C= (n.874+7471C=)
c.754C=
c.986C= (p.Thr329=)
c.337+60166C= (n.337+60166C=)
c.612C=
c.1313C= (p.Thr438=)
c.1232C= (p.Thr411=)
c.1535C= (p.Thr512=)
c.1142C= (p.Thr381=)
c.1229C= (p.Thr410=)
c.1388C= (p.Thr463=)
c.1157C= (p.Thr386=)
12g.66455453G>TCA385625883GRIP1c.1379C>A (p.Thr460Asn)
c.1310C>A (p.Thr437Asn)
c.1154C>A (p.Thr385Asn)
c.416C>A
c.874+7471C>A (n.874+7471C>A)
c.754C>A
c.986C>A (p.Thr329Asn)
c.337+60166C>A (n.337+60166C>A)
c.612C>A
c.1313C>A (p.Thr438Asn)
c.1232C>A (p.Thr411Asn)
c.1535C>A (p.Thr512Asn)
c.1142C>A (p.Thr381Asn)
c.1229C>A (p.Thr410Asn)
c.1388C>A (p.Thr463Asn)
c.1157C>A (p.Thr386Asn)
12g.66455454T>ACA385625887GRIP1c.1378A>T (p.Thr460Ser)
c.1309A>T (p.Thr437Ser)
c.1153A>T (p.Thr385Ser)
c.415A>T
c.874+7470A>T (n.874+7470A>T)
c.753A>T
c.985A>T (p.Thr329Ser)
c.337+60165A>T (n.337+60165A>T)
c.611A>T
c.1312A>T (p.Thr438Ser)
c.1231A>T (p.Thr411Ser)
c.1534A>T (p.Thr512Ser)
c.1141A>T (p.Thr381Ser)
c.1228A>T (p.Thr410Ser)
c.1387A>T (p.Thr463Ser)
c.1156A>T (p.Thr386Ser)
12g.66455454T>CCA385625885GRIP1c.1378A>G (p.Thr460Ala)
c.1309A>G (p.Thr437Ala)
c.1153A>G (p.Thr385Ala)
c.415A>G
c.874+7470A>G (n.874+7470A>G)
c.753A>G
c.985A>G (p.Thr329Ala)
c.337+60165A>G (n.337+60165A>G)
c.611A>G
c.1312A>G (p.Thr438Ala)
c.1231A>G (p.Thr411Ala)
c.1534A>G (p.Thr512Ala)
c.1141A>G (p.Thr381Ala)
c.1228A>G (p.Thr410Ala)
c.1387A>G (p.Thr463Ala)
c.1156A>G (p.Thr386Ala)
 COSMIC COSMIC
12g.66455454T>GCA385625884GRIP1c.1378A>C (p.Thr460Pro)
c.1309A>C (p.Thr437Pro)
c.1153A>C (p.Thr385Pro)
c.415A>C
c.874+7470A>C (n.874+7470A>C)
c.753A>C
c.985A>C (p.Thr329Pro)
c.337+60165A>C (n.337+60165A>C)
c.611A>C
c.1312A>C (p.Thr438Pro)
c.1231A>C (p.Thr411Pro)
c.1534A>C (p.Thr512Pro)
c.1141A>C (p.Thr381Pro)
c.1228A>C (p.Thr410Pro)
c.1387A>C (p.Thr463Pro)
c.1156A>C (p.Thr386Pro)
12g.66455455T>ACA480573916GRIP1c.1377A>T (p.Gly459=)
c.1308A>T (p.Gly436=)
c.1152A>T (p.Gly384=)
c.414A>T
c.874+7469A>T (n.874+7469A>T)
c.752A>T
c.984A>T (p.Gly328=)
c.337+60164A>T (n.337+60164A>T)
c.610A>T
c.1311A>T (p.Gly437=)
c.1230A>T (p.Gly410=)
c.1533A>T (p.Gly511=)
c.1140A>T (p.Gly380=)
c.1227A>T (p.Gly409=)
c.1386A>T (p.Gly462=)
c.1155A>T (p.Gly385=)
12g.66455455T>CCA480573917GRIP1c.1377A>G (p.Gly459=)
c.1308A>G (p.Gly436=)
c.1152A>G (p.Gly384=)
c.414A>G
c.874+7469A>G (n.874+7469A>G)
c.752A>G
c.984A>G (p.Gly328=)
c.337+60164A>G (n.337+60164A>G)
c.610A>G
c.1311A>G (p.Gly437=)
c.1230A>G (p.Gly410=)
c.1533A>G (p.Gly511=)
c.1140A>G (p.Gly380=)
c.1227A>G (p.Gly409=)
c.1386A>G (p.Gly462=)
c.1155A>G (p.Gly385=)
12g.66455455T>GCA480573918GRIP1c.1377A>C (p.Gly459=)
c.1308A>C (p.Gly436=)
c.1152A>C (p.Gly384=)
c.414A>C
c.874+7469A>C (n.874+7469A>C)
c.752A>C
c.984A>C (p.Gly328=)
c.337+60164A>C (n.337+60164A>C)
c.610A>C
c.1311A>C (p.Gly437=)
c.1230A>C (p.Gly410=)
c.1533A>C (p.Gly511=)
c.1140A>C (p.Gly380=)
c.1227A>C (p.Gly409=)
c.1386A>C (p.Gly462=)
c.1155A>C (p.Gly385=)
12g.66455456C>ACA385625890GRIP1c.1376G>T (p.Gly459Val)
c.1307G>T (p.Gly436Val)
c.1151G>T (p.Gly384Val)
c.413G>T
c.874+7468G>T (n.874+7468G>T)
c.751G>T
c.983G>T (p.Gly328Val)
c.337+60163G>T (n.337+60163G>T)
c.609G>T
c.1310G>T (p.Gly437Val)
c.1229G>T (p.Gly410Val)
c.1532G>T (p.Gly511Val)
c.1139G>T (p.Gly380Val)
c.1226G>T (p.Gly409Val)
c.1385G>T (p.Gly462Val)
c.1154G>T (p.Gly385Val)
 gnomAD v4
12g.66455456C=CA2043057188GRIP1c.1376G= (p.Gly459=)
c.1307G= (p.Gly436=)
c.1151G= (p.Gly384=)
c.413G=
c.874+7468G= (n.874+7468G=)
c.751G=
c.983G= (p.Gly328=)
c.337+60163G= (n.337+60163G=)
c.609G=
c.1310G= (p.Gly437=)
c.1229G= (p.Gly410=)
c.1532G= (p.Gly511=)
c.1139G= (p.Gly380=)
c.1226G= (p.Gly409=)
c.1385G= (p.Gly462=)
c.1154G= (p.Gly385=)
12g.66455456C>GCA385625893GRIP1c.1376G>C (p.Gly459Ala)
c.1307G>C (p.Gly436Ala)
c.1151G>C (p.Gly384Ala)
c.413G>C
c.874+7468G>C (n.874+7468G>C)
c.751G>C
c.983G>C (p.Gly328Ala)
c.337+60163G>C (n.337+60163G>C)
c.609G>C
c.1310G>C (p.Gly437Ala)
c.1229G>C (p.Gly410Ala)
c.1532G>C (p.Gly511Ala)
c.1139G>C (p.Gly380Ala)
c.1226G>C (p.Gly409Ala)
c.1385G>C (p.Gly462Ala)
c.1154G>C (p.Gly385Ala)
12g.66455456C>TCA385625896GRIP1c.1376G>A (p.Gly459Glu)
c.1307G>A (p.Gly436Glu)
c.1151G>A (p.Gly384Glu)
c.413G>A
c.874+7468G>A (n.874+7468G>A)
c.751G>A
c.983G>A (p.Gly328Glu)
c.337+60163G>A (n.337+60163G>A)
c.609G>A
c.1310G>A (p.Gly437Glu)
c.1229G>A (p.Gly410Glu)
c.1532G>A (p.Gly511Glu)
c.1139G>A (p.Gly380Glu)
c.1226G>A (p.Gly409Glu)
c.1385G>A (p.Gly462Glu)
c.1154G>A (p.Gly385Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.66455457C>ACA385625899GRIP1c.1375G>T (p.Gly459Ter)
c.1306G>T (p.Gly436Ter)
c.1150G>T (p.Gly384Ter)
c.412G>T
c.874+7467G>T (n.874+7467G>T)
c.750G>T
c.982G>T (p.Gly328Ter)
c.337+60162G>T (n.337+60162G>T)
c.608G>T
c.1309G>T (p.Gly437Ter)
c.1228G>T (p.Gly410Ter)
c.1531G>T (p.Gly511Ter)
c.1138G>T (p.Gly380Ter)
c.1225G>T (p.Gly409Ter)
c.1384G>T (p.Gly462Ter)
c.1153G>T (p.Gly385Ter)
12g.66455457C>GCA385625901GRIP1c.1375G>C (p.Gly459Arg)
c.1306G>C (p.Gly436Arg)
c.1150G>C (p.Gly384Arg)
c.412G>C
c.874+7467G>C (n.874+7467G>C)
c.750G>C
c.982G>C (p.Gly328Arg)
c.337+60162G>C (n.337+60162G>C)
c.608G>C
c.1309G>C (p.Gly437Arg)
c.1228G>C (p.Gly410Arg)
c.1531G>C (p.Gly511Arg)
c.1138G>C (p.Gly380Arg)
c.1225G>C (p.Gly409Arg)
c.1384G>C (p.Gly462Arg)
c.1153G>C (p.Gly385Arg)
12g.66455457C>TCA385625903GRIP1c.1375G>A (p.Gly459Arg)
c.1306G>A (p.Gly436Arg)
c.1150G>A (p.Gly384Arg)
c.412G>A
c.874+7467G>A (n.874+7467G>A)
c.750G>A
c.982G>A (p.Gly328Arg)
c.337+60162G>A (n.337+60162G>A)
c.608G>A
c.1309G>A (p.Gly437Arg)
c.1228G>A (p.Gly410Arg)
c.1531G>A (p.Gly511Arg)
c.1138G>A (p.Gly380Arg)
c.1225G>A (p.Gly409Arg)
c.1384G>A (p.Gly462Arg)
c.1153G>A (p.Gly385Arg)
12g.66455458A>CCA480573921GRIP1c.1374T>G (p.Arg458=)
c.1305T>G (p.Arg435=)
c.1149T>G (p.Arg383=)
c.411T>G
c.874+7466T>G (n.874+7466T>G)
c.749T>G
c.981T>G (p.Arg327=)
c.337+60161T>G (n.337+60161T>G)
c.607T>G
c.1308T>G (p.Arg436=)
c.1227T>G (p.Arg409=)
c.1530T>G (p.Arg510=)
c.1137T>G (p.Arg379=)
c.1224T>G (p.Arg408=)
c.1383T>G (p.Arg461=)
c.1152T>G (p.Arg384=)
12g.66455458A>GCA480573919GRIP1c.1374T>C (p.Arg458=)
c.1305T>C (p.Arg435=)
c.1149T>C (p.Arg383=)
c.411T>C
c.874+7466T>C (n.874+7466T>C)
c.749T>C
c.981T>C (p.Arg327=)
c.337+60161T>C (n.337+60161T>C)
c.607T>C
c.1308T>C (p.Arg436=)
c.1227T>C (p.Arg409=)
c.1530T>C (p.Arg510=)
c.1137T>C (p.Arg379=)
c.1224T>C (p.Arg408=)
c.1383T>C (p.Arg461=)
c.1152T>C (p.Arg384=)
12g.66455458A>TCA480573920GRIP1c.1374T>A (p.Arg458=)
c.1305T>A (p.Arg435=)
c.1149T>A (p.Arg383=)
c.411T>A
c.874+7466T>A (n.874+7466T>A)
c.749T>A
c.981T>A (p.Arg327=)
c.337+60161T>A (n.337+60161T>A)
c.607T>A
c.1308T>A (p.Arg436=)
c.1227T>A (p.Arg409=)
c.1530T>A (p.Arg510=)
c.1137T>A (p.Arg379=)
c.1224T>A (p.Arg408=)
c.1383T>A (p.Arg461=)
c.1152T>A (p.Arg384=)
12g.66455459C>ACA385625906GRIP1c.1373G>T (p.Arg458Leu)
c.1304G>T (p.Arg435Leu)
c.1148G>T (p.Arg383Leu)
c.410G>T
c.874+7465G>T (n.874+7465G>T)
c.748G>T
c.980G>T (p.Arg327Leu)
c.337+60160G>T (n.337+60160G>T)
c.606G>T
c.1307G>T (p.Arg436Leu)
c.1226G>T (p.Arg409Leu)
c.1529G>T (p.Arg510Leu)
c.1136G>T (p.Arg379Leu)
c.1223G>T (p.Arg408Leu)
c.1382G>T (p.Arg461Leu)
c.1151G>T (p.Arg384Leu)
 dbSNP
12g.66455459C=CA2043057189GRIP1c.1373G= (p.Arg458=)
c.1304G= (p.Arg435=)
c.1148G= (p.Arg383=)
c.410G=
c.874+7465G= (n.874+7465G=)
c.748G=
c.980G= (p.Arg327=)
c.337+60160G= (n.337+60160G=)
c.606G=
c.1307G= (p.Arg436=)
c.1226G= (p.Arg409=)
c.1529G= (p.Arg510=)
c.1136G= (p.Arg379=)
c.1223G= (p.Arg408=)
c.1382G= (p.Arg461=)
c.1151G= (p.Arg384=)
12g.66455459C>GCA238353632GRIP1c.1373G>C (p.Arg458Pro)
c.1304G>C (p.Arg435Pro)
c.1148G>C (p.Arg383Pro)
c.410G>C
c.874+7465G>C (n.874+7465G>C)
c.748G>C
c.980G>C (p.Arg327Pro)
c.337+60160G>C (n.337+60160G>C)
c.606G>C
c.1307G>C (p.Arg436Pro)
c.1226G>C (p.Arg409Pro)
c.1529G>C (p.Arg510Pro)
c.1136G>C (p.Arg379Pro)
c.1223G>C (p.Arg408Pro)
c.1382G>C (p.Arg461Pro)
c.1151G>C (p.Arg384Pro)
 dbSNP gnomAD v4
12g.66455459C>TCA238353633GRIP1c.1373G>A (p.Arg458His)
c.1304G>A (p.Arg435His)
c.1148G>A (p.Arg383His)
c.410G>A
c.874+7465G>A (n.874+7465G>A)
c.748G>A
c.980G>A (p.Arg327His)
c.337+60160G>A (n.337+60160G>A)
c.606G>A
c.1307G>A (p.Arg436His)
c.1226G>A (p.Arg409His)
c.1529G>A (p.Arg510His)
c.1136G>A (p.Arg379His)
c.1223G>A (p.Arg408His)
c.1382G>A (p.Arg461His)
c.1151G>A (p.Arg384His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.66455460G>ACA6674415GRIP1c.1372C>T (p.Arg458Cys)
c.1303C>T (p.Arg435Cys)
c.1147C>T (p.Arg383Cys)
c.409C>T
c.874+7464C>T (n.874+7464C>T)
c.747C>T
c.979C>T (p.Arg327Cys)
c.337+60159C>T (n.337+60159C>T)
c.605C>T
c.1306C>T (p.Arg436Cys)
c.1225C>T (p.Arg409Cys)
c.1528C>T (p.Arg510Cys)
c.1135C>T (p.Arg379Cys)
c.1222C>T (p.Arg408Cys)
c.1381C>T (p.Arg461Cys)
c.1150C>T (p.Arg384Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.66455460G>CCA385625915GRIP1c.1372C>G (p.Arg458Gly)
c.1303C>G (p.Arg435Gly)
c.1147C>G (p.Arg383Gly)
c.409C>G
c.874+7464C>G (n.874+7464C>G)
c.747C>G
c.979C>G (p.Arg327Gly)
c.337+60159C>G (n.337+60159C>G)
c.605C>G
c.1306C>G (p.Arg436Gly)
c.1225C>G (p.Arg409Gly)
c.1528C>G (p.Arg510Gly)
c.1135C>G (p.Arg379Gly)
c.1222C>G (p.Arg408Gly)
c.1381C>G (p.Arg461Gly)
c.1150C>G (p.Arg384Gly)
12g.66455460G=CA2043057190GRIP1c.1372C= (p.Arg458=)
c.1303C= (p.Arg435=)
c.1147C= (p.Arg383=)
c.409C=
c.874+7464C= (n.874+7464C=)
c.747C=
c.979C= (p.Arg327=)
c.337+60159C= (n.337+60159C=)
c.605C=
c.1306C= (p.Arg436=)
c.1225C= (p.Arg409=)
c.1528C= (p.Arg510=)
c.1135C= (p.Arg379=)
c.1222C= (p.Arg408=)
c.1381C= (p.Arg461=)
c.1150C= (p.Arg384=)
12g.66455460G>TCA385625916GRIP1c.1372C>A (p.Arg458Ser)
c.1303C>A (p.Arg435Ser)
c.1147C>A (p.Arg383Ser)
c.409C>A
c.874+7464C>A (n.874+7464C>A)
c.747C>A
c.979C>A (p.Arg327Ser)
c.337+60159C>A (n.337+60159C>A)
c.605C>A
c.1306C>A (p.Arg436Ser)
c.1225C>A (p.Arg409Ser)
c.1528C>A (p.Arg510Ser)
c.1135C>A (p.Arg379Ser)
c.1222C>A (p.Arg408Ser)
c.1381C>A (p.Arg461Ser)
c.1150C>A (p.Arg384Ser)
12g.66455461T>ACA480573922GRIP1c.1371A>T (p.Pro457=)
c.1302A>T (p.Pro434=)
c.1146A>T (p.Pro382=)
c.408A>T
c.874+7463A>T (n.874+7463A>T)
c.746A>T
c.978A>T (p.Pro326=)
c.337+60158A>T (n.337+60158A>T)
c.604A>T
c.1305A>T (p.Pro435=)
c.1224A>T (p.Pro408=)
c.1527A>T (p.Pro509=)
c.1134A>T (p.Pro378=)
c.1221A>T (p.Pro407=)
c.1380A>T (p.Pro460=)
c.1149A>T (p.Pro383=)
 COSMIC
12g.66455461T>CCA480573923GRIP1c.1371A>G (p.Pro457=)
c.1302A>G (p.Pro434=)
c.1146A>G (p.Pro382=)
c.408A>G
c.874+7463A>G (n.874+7463A>G)
c.746A>G
c.978A>G (p.Pro326=)
c.337+60158A>G (n.337+60158A>G)
c.604A>G
c.1305A>G (p.Pro435=)
c.1224A>G (p.Pro408=)
c.1527A>G (p.Pro509=)
c.1134A>G (p.Pro378=)
c.1221A>G (p.Pro407=)
c.1380A>G (p.Pro460=)
c.1149A>G (p.Pro383=)
12g.66455461T>GCA480573924GRIP1c.1371A>C (p.Pro457=)
c.1302A>C (p.Pro434=)
c.1146A>C (p.Pro382=)
c.408A>C
c.874+7463A>C (n.874+7463A>C)
c.746A>C
c.978A>C (p.Pro326=)
c.337+60158A>C (n.337+60158A>C)
c.604A>C
c.1305A>C (p.Pro435=)
c.1224A>C (p.Pro408=)
c.1527A>C (p.Pro509=)
c.1134A>C (p.Pro378=)
c.1221A>C (p.Pro407=)
c.1380A>C (p.Pro460=)
c.1149A>C (p.Pro383=)
12g.66455462G>ACA385625924GRIP1c.1370C>T (p.Pro457Leu)
c.1301C>T (p.Pro434Leu)
c.1145C>T (p.Pro382Leu)
c.407C>T
c.874+7462C>T (n.874+7462C>T)
c.745C>T
c.977C>T (p.Pro326Leu)
c.337+60157C>T (n.337+60157C>T)
c.603C>T
c.1304C>T (p.Pro435Leu)
c.1223C>T (p.Pro408Leu)
c.1526C>T (p.Pro509Leu)
c.1133C>T (p.Pro378Leu)
c.1220C>T (p.Pro407Leu)
c.1379C>T (p.Pro460Leu)
c.1148C>T (p.Pro383Leu)
12g.66455462G>CCA385625926GRIP1c.1370C>G (p.Pro457Arg)
c.1301C>G (p.Pro434Arg)
c.1145C>G (p.Pro382Arg)
c.407C>G
c.874+7462C>G (n.874+7462C>G)
c.745C>G
c.977C>G (p.Pro326Arg)
c.337+60157C>G (n.337+60157C>G)
c.603C>G
c.1304C>G (p.Pro435Arg)
c.1223C>G (p.Pro408Arg)
c.1526C>G (p.Pro509Arg)
c.1133C>G (p.Pro378Arg)
c.1220C>G (p.Pro407Arg)
c.1379C>G (p.Pro460Arg)
c.1148C>G (p.Pro383Arg)
12g.66455462G>TCA385625922GRIP1c.1370C>A (p.Pro457Gln)
c.1301C>A (p.Pro434Gln)
c.1145C>A (p.Pro382Gln)
c.407C>A
c.874+7462C>A (n.874+7462C>A)
c.745C>A
c.977C>A (p.Pro326Gln)
c.337+60157C>A (n.337+60157C>A)
c.603C>A
c.1304C>A (p.Pro435Gln)
c.1223C>A (p.Pro408Gln)
c.1526C>A (p.Pro509Gln)
c.1133C>A (p.Pro378Gln)
c.1220C>A (p.Pro407Gln)
c.1379C>A (p.Pro460Gln)
c.1148C>A (p.Pro383Gln)
12g.66455463G>ACA385625928GRIP1c.1369C>T (p.Pro457Ser)
c.1300C>T (p.Pro434Ser)
c.1144C>T (p.Pro382Ser)
c.406C>T
c.874+7461C>T (n.874+7461C>T)
c.744C>T
c.976C>T (p.Pro326Ser)
c.337+60156C>T (n.337+60156C>T)
c.602C>T
c.1303C>T (p.Pro435Ser)
c.1222C>T (p.Pro408Ser)
c.1525C>T (p.Pro509Ser)
c.1132C>T (p.Pro378Ser)
c.1219C>T (p.Pro407Ser)
c.1378C>T (p.Pro460Ser)
c.1147C>T (p.Pro383Ser)
12g.66455463G>CCA385625930GRIP1c.1369C>G (p.Pro457Ala)
c.1300C>G (p.Pro434Ala)
c.1144C>G (p.Pro382Ala)
c.406C>G
c.874+7461C>G (n.874+7461C>G)
c.744C>G
c.976C>G (p.Pro326Ala)
c.337+60156C>G (n.337+60156C>G)
c.602C>G
c.1303C>G (p.Pro435Ala)
c.1222C>G (p.Pro408Ala)
c.1525C>G (p.Pro509Ala)
c.1132C>G (p.Pro378Ala)
c.1219C>G (p.Pro407Ala)
c.1378C>G (p.Pro460Ala)
c.1147C>G (p.Pro383Ala)
12g.66455463G>TCA385625931GRIP1c.1369C>A (p.Pro457Thr)
c.1300C>A (p.Pro434Thr)
c.1144C>A (p.Pro382Thr)
c.406C>A
c.874+7461C>A (n.874+7461C>A)
c.744C>A
c.976C>A (p.Pro326Thr)
c.337+60156C>A (n.337+60156C>A)
c.602C>A
c.1303C>A (p.Pro435Thr)
c.1222C>A (p.Pro408Thr)
c.1525C>A (p.Pro509Thr)
c.1132C>A (p.Pro378Thr)
c.1219C>A (p.Pro407Thr)
c.1378C>A (p.Pro460Thr)
c.1147C>A (p.Pro383Thr)
12g.66455464G>ACA480573925GRIP1c.1368C>T (p.Ser456=)
c.1299C>T (p.Ser433=)
c.1143C>T (p.Ser381=)
c.405C>T
c.874+7460C>T (n.874+7460C>T)
c.743C>T
c.975C>T (p.Ser325=)
c.337+60155C>T (n.337+60155C>T)
c.601C>T
c.1302C>T (p.Ser434=)
c.1221C>T (p.Ser407=)
c.1524C>T (p.Ser508=)
c.1131C>T (p.Ser377=)
c.1218C>T (p.Ser406=)
c.1377C>T (p.Ser459=)
c.1146C>T (p.Ser382=)
12g.66455464G>CCA385625934GRIP1c.1368C>G (p.Ser456Arg)
c.1299C>G (p.Ser433Arg)
c.1143C>G (p.Ser381Arg)
c.405C>G
c.874+7460C>G (n.874+7460C>G)
c.743C>G
c.975C>G (p.Ser325Arg)
c.337+60155C>G (n.337+60155C>G)
c.601C>G
c.1302C>G (p.Ser434Arg)
c.1221C>G (p.Ser407Arg)
c.1524C>G (p.Ser508Arg)
c.1131C>G (p.Ser377Arg)
c.1218C>G (p.Ser406Arg)
c.1377C>G (p.Ser459Arg)
c.1146C>G (p.Ser382Arg)
12g.66455464G>TCA385625936GRIP1c.1368C>A (p.Ser456Arg)
c.1299C>A (p.Ser433Arg)
c.1143C>A (p.Ser381Arg)
c.405C>A
c.874+7460C>A (n.874+7460C>A)
c.743C>A
c.975C>A (p.Ser325Arg)
c.337+60155C>A (n.337+60155C>A)
c.601C>A
c.1302C>A (p.Ser434Arg)
c.1221C>A (p.Ser407Arg)
c.1524C>A (p.Ser508Arg)
c.1131C>A (p.Ser377Arg)
c.1218C>A (p.Ser406Arg)
c.1377C>A (p.Ser459Arg)
c.1146C>A (p.Ser382Arg)
12g.66455465C>ACA16609528GRIP1c.1367G>T (p.Ser456Ile)
c.1298G>T (p.Ser433Ile)
c.1142G>T (p.Ser381Ile)
c.404G>T
c.874+7459G>T (n.874+7459G>T)
c.742G>T
c.974G>T (p.Ser325Ile)
c.337+60154G>T (n.337+60154G>T)
c.600G>T
c.1301G>T (p.Ser434Ile)
c.1220G>T (p.Ser407Ile)
c.1523G>T (p.Ser508Ile)
c.1130G>T (p.Ser377Ile)
c.1217G>T (p.Ser406Ile)
c.1376G>T (p.Ser459Ile)
c.1145G>T (p.Ser382Ile)
 ClinVar dbSNP
12g.66455465C=CA2043057191GRIP1c.1367G= (p.Ser456=)
c.1298G= (p.Ser433=)
c.1142G= (p.Ser381=)
c.404G=
c.874+7459G= (n.874+7459G=)
c.742G=
c.974G= (p.Ser325=)
c.337+60154G= (n.337+60154G=)
c.600G=
c.1301G= (p.Ser434=)
c.1220G= (p.Ser407=)
c.1523G= (p.Ser508=)
c.1130G= (p.Ser377=)
c.1217G= (p.Ser406=)
c.1376G= (p.Ser459=)
c.1145G= (p.Ser382=)
12g.66455465C>GCA385625941GRIP1c.1367G>C (p.Ser456Thr)
c.1298G>C (p.Ser433Thr)
c.1142G>C (p.Ser381Thr)
c.404G>C
c.874+7459G>C (n.874+7459G>C)
c.742G>C
c.974G>C (p.Ser325Thr)
c.337+60154G>C (n.337+60154G>C)
c.600G>C
c.1301G>C (p.Ser434Thr)
c.1220G>C (p.Ser407Thr)
c.1523G>C (p.Ser508Thr)
c.1130G>C (p.Ser377Thr)
c.1217G>C (p.Ser406Thr)
c.1376G>C (p.Ser459Thr)
c.1145G>C (p.Ser382Thr)
12g.66455465C>TCA385625938GRIP1c.1367G>A (p.Ser456Asn)
c.1298G>A (p.Ser433Asn)
c.1142G>A (p.Ser381Asn)
c.404G>A
c.874+7459G>A (n.874+7459G>A)
c.742G>A
c.974G>A (p.Ser325Asn)
c.337+60154G>A (n.337+60154G>A)
c.600G>A
c.1301G>A (p.Ser434Asn)
c.1220G>A (p.Ser407Asn)
c.1523G>A (p.Ser508Asn)
c.1130G>A (p.Ser377Asn)
c.1217G>A (p.Ser406Asn)
c.1376G>A (p.Ser459Asn)
c.1145G>A (p.Ser382Asn)
12g.66455466T>ACA385625943GRIP1c.1366A>T (p.Ser456Cys)
c.1297A>T (p.Ser433Cys)
c.1141A>T (p.Ser381Cys)
c.403A>T
c.874+7458A>T (n.874+7458A>T)
c.741A>T
c.973A>T (p.Ser325Cys)
c.337+60153A>T (n.337+60153A>T)
c.599A>T
c.1300A>T (p.Ser434Cys)
c.1219A>T (p.Ser407Cys)
c.1522A>T (p.Ser508Cys)
c.1129A>T (p.Ser377Cys)
c.1216A>T (p.Ser406Cys)
c.1375A>T (p.Ser459Cys)
c.1144A>T (p.Ser382Cys)
12g.66455466T>CCA385625946GRIP1c.1366A>G (p.Ser456Gly)
c.1297A>G (p.Ser433Gly)
c.1141A>G (p.Ser381Gly)
c.403A>G
c.874+7458A>G (n.874+7458A>G)
c.741A>G
c.973A>G (p.Ser325Gly)
c.337+60153A>G (n.337+60153A>G)
c.599A>G
c.1300A>G (p.Ser434Gly)
c.1219A>G (p.Ser407Gly)
c.1522A>G (p.Ser508Gly)
c.1129A>G (p.Ser377Gly)
c.1216A>G (p.Ser406Gly)
c.1375A>G (p.Ser459Gly)
c.1144A>G (p.Ser382Gly)
 gnomAD v4
12g.66455466T>GCA385625948GRIP1c.1366A>C (p.Ser456Arg)
c.1297A>C (p.Ser433Arg)
c.1141A>C (p.Ser381Arg)
c.403A>C
c.874+7458A>C (n.874+7458A>C)
c.741A>C
c.973A>C (p.Ser325Arg)
c.337+60153A>C (n.337+60153A>C)
c.599A>C
c.1300A>C (p.Ser434Arg)
c.1219A>C (p.Ser407Arg)
c.1522A>C (p.Ser508Arg)
c.1129A>C (p.Ser377Arg)
c.1216A>C (p.Ser406Arg)
c.1375A>C (p.Ser459Arg)
c.1144A>C (p.Ser382Arg)
12g.66455467G>ACA480573927GRIP1c.1365C>T (p.Thr455=)
c.1296C>T (p.Thr432=)
c.1140C>T (p.Thr380=)
c.402C>T
c.874+7457C>T (n.874+7457C>T)
c.740C>T
c.972C>T (p.Thr324=)
c.337+60152C>T (n.337+60152C>T)
c.598C>T
c.1299C>T (p.Thr433=)
c.1218C>T (p.Thr406=)
c.1521C>T (p.Thr507=)
c.1128C>T (p.Thr376=)
c.1215C>T (p.Thr405=)
c.1374C>T (p.Thr458=)
c.1143C>T (p.Thr381=)
12g.66455467G>CCA480573928GRIP1c.1365C>G (p.Thr455=)
c.1296C>G (p.Thr432=)
c.1140C>G (p.Thr380=)
c.402C>G
c.874+7457C>G (n.874+7457C>G)
c.740C>G
c.972C>G (p.Thr324=)
c.337+60152C>G (n.337+60152C>G)
c.598C>G
c.1299C>G (p.Thr433=)
c.1218C>G (p.Thr406=)
c.1521C>G (p.Thr507=)
c.1128C>G (p.Thr376=)
c.1215C>G (p.Thr405=)
c.1374C>G (p.Thr458=)
c.1143C>G (p.Thr381=)
12g.66455467G>TCA480573929GRIP1c.1365C>A (p.Thr455=)
c.1296C>A (p.Thr432=)
c.1140C>A (p.Thr380=)
c.402C>A
c.874+7457C>A (n.874+7457C>A)
c.740C>A
c.972C>A (p.Thr324=)
c.337+60152C>A (n.337+60152C>A)
c.598C>A
c.1299C>A (p.Thr433=)
c.1218C>A (p.Thr406=)
c.1521C>A (p.Thr507=)
c.1128C>A (p.Thr376=)
c.1215C>A (p.Thr405=)
c.1374C>A (p.Thr458=)
c.1143C>A (p.Thr381=)
12g.66455468G>ACA6674416GRIP1c.1364C>T (p.Thr455Ile)
c.1295C>T (p.Thr432Ile)
c.1139C>T (p.Thr380Ile)
c.401C>T
c.874+7456C>T (n.874+7456C>T)
c.739C>T
c.971C>T (p.Thr324Ile)
c.337+60151C>T (n.337+60151C>T)
c.597C>T
c.1298C>T (p.Thr433Ile)
c.1217C>T (p.Thr406Ile)
c.1520C>T (p.Thr507Ile)
c.1127C>T (p.Thr376Ile)
c.1214C>T (p.Thr405Ile)
c.1373C>T (p.Thr458Ile)
c.1142C>T (p.Thr381Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.66455468G>CCA385625953GRIP1c.1364C>G (p.Thr455Ser)
c.1295C>G (p.Thr432Ser)
c.1139C>G (p.Thr380Ser)
c.401C>G
c.874+7456C>G (n.874+7456C>G)
c.739C>G
c.971C>G (p.Thr324Ser)
c.337+60151C>G (n.337+60151C>G)
c.597C>G
c.1298C>G (p.Thr433Ser)
c.1217C>G (p.Thr406Ser)
c.1520C>G (p.Thr507Ser)
c.1127C>G (p.Thr376Ser)
c.1214C>G (p.Thr405Ser)
c.1373C>G (p.Thr458Ser)
c.1142C>G (p.Thr381Ser)
12g.66455468G=CA2043057192GRIP1c.1364C= (p.Thr455=)
c.1295C= (p.Thr432=)
c.1139C= (p.Thr380=)
c.401C=
c.874+7456C= (n.874+7456C=)
c.739C=
c.971C= (p.Thr324=)
c.337+60151C= (n.337+60151C=)
c.597C=
c.1298C= (p.Thr433=)
c.1217C= (p.Thr406=)
c.1520C= (p.Thr507=)
c.1127C= (p.Thr376=)
c.1214C= (p.Thr405=)
c.1373C= (p.Thr458=)
c.1142C= (p.Thr381=)
12g.66455468G>TCA385625962GRIP1c.1364C>A (p.Thr455Asn)
c.1295C>A (p.Thr432Asn)
c.1139C>A (p.Thr380Asn)
c.401C>A
c.874+7456C>A (n.874+7456C>A)
c.739C>A
c.971C>A (p.Thr324Asn)
c.337+60151C>A (n.337+60151C>A)
c.597C>A
c.1298C>A (p.Thr433Asn)
c.1217C>A (p.Thr406Asn)
c.1520C>A (p.Thr507Asn)
c.1127C>A (p.Thr376Asn)
c.1214C>A (p.Thr405Asn)
c.1373C>A (p.Thr458Asn)
c.1142C>A (p.Thr381Asn)
 gnomAD v4
12g.66455469T>ACA385625965GRIP1c.1363A>T (p.Thr455Ser)
c.1294A>T (p.Thr432Ser)
c.1138A>T (p.Thr380Ser)
c.400A>T
c.874+7455A>T (n.874+7455A>T)
c.738A>T
c.970A>T (p.Thr324Ser)
c.337+60150A>T (n.337+60150A>T)
c.596A>T
c.1297A>T (p.Thr433Ser)
c.1216A>T (p.Thr406Ser)
c.1519A>T (p.Thr507Ser)
c.1126A>T (p.Thr376Ser)
c.1213A>T (p.Thr405Ser)
c.1372A>T (p.Thr458Ser)
c.1141A>T (p.Thr381Ser)
 COSMIC COSMIC
12g.66455469T>CCA385625969GRIP1c.1363A>G (p.Thr455Ala)
c.1294A>G (p.Thr432Ala)
c.1138A>G (p.Thr380Ala)
c.400A>G
c.874+7455A>G (n.874+7455A>G)
c.738A>G
c.970A>G (p.Thr324Ala)
c.337+60150A>G (n.337+60150A>G)
c.596A>G
c.1297A>G (p.Thr433Ala)
c.1216A>G (p.Thr406Ala)
c.1519A>G (p.Thr507Ala)
c.1126A>G (p.Thr376Ala)
c.1213A>G (p.Thr405Ala)
c.1372A>G (p.Thr458Ala)
c.1141A>G (p.Thr381Ala)
12g.66455469T>GCA385625967GRIP1c.1363A>C (p.Thr455Pro)
c.1294A>C (p.Thr432Pro)
c.1138A>C (p.Thr380Pro)
c.400A>C
c.874+7455A>C (n.874+7455A>C)
c.738A>C
c.970A>C (p.Thr324Pro)
c.337+60150A>C (n.337+60150A>C)
c.596A>C
c.1297A>C (p.Thr433Pro)
c.1216A>C (p.Thr406Pro)
c.1519A>C (p.Thr507Pro)
c.1126A>C (p.Thr376Pro)
c.1213A>C (p.Thr405Pro)
c.1372A>C (p.Thr458Pro)
c.1141A>C (p.Thr381Pro)
 dbSNP
12g.66455469T=CA2043057193GRIP1c.1363A= (p.Thr455=)
c.1294A= (p.Thr432=)
c.1138A= (p.Thr380=)
c.400A=
c.874+7455A= (n.874+7455A=)
c.738A=
c.970A= (p.Thr324=)
c.337+60150A= (n.337+60150A=)
c.596A=
c.1297A= (p.Thr433=)
c.1216A= (p.Thr406=)
c.1519A= (p.Thr507=)
c.1126A= (p.Thr376=)
c.1213A= (p.Thr405=)
c.1372A= (p.Thr458=)
c.1141A= (p.Thr381=)
12g.66455470G>ACA6674417GRIP1c.1362C>T (p.Ser454=)
c.1293C>T (p.Ser431=)
c.1137C>T (p.Ser379=)
c.399C>T
c.874+7454C>T (n.874+7454C>T)
c.737C>T
c.969C>T (p.Ser323=)
c.337+60149C>T (n.337+60149C>T)
c.595C>T
c.1296C>T (p.Ser432=)
c.1215C>T (p.Ser405=)
c.1518C>T (p.Ser506=)
c.1125C>T (p.Ser375=)
c.1212C>T (p.Ser404=)
c.1371C>T (p.Ser457=)
c.1140C>T (p.Ser380=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.66455470G>CCA480573931GRIP1c.1362C>G (p.Ser454=)
c.1293C>G (p.Ser431=)
c.1137C>G (p.Ser379=)
c.399C>G
c.874+7454C>G (n.874+7454C>G)
c.737C>G
c.969C>G (p.Ser323=)
c.337+60149C>G (n.337+60149C>G)
c.595C>G
c.1296C>G (p.Ser432=)
c.1215C>G (p.Ser405=)
c.1518C>G (p.Ser506=)
c.1125C>G (p.Ser375=)
c.1212C>G (p.Ser404=)
c.1371C>G (p.Ser457=)
c.1140C>G (p.Ser380=)
12g.66455470G=CA2043057194GRIP1c.1362C= (p.Ser454=)
c.1293C= (p.Ser431=)
c.1137C= (p.Ser379=)
c.399C=
c.874+7454C= (n.874+7454C=)
c.737C=
c.969C= (p.Ser323=)
c.337+60149C= (n.337+60149C=)
c.595C=
c.1296C= (p.Ser432=)
c.1215C= (p.Ser405=)
c.1518C= (p.Ser506=)
c.1125C= (p.Ser375=)
c.1212C= (p.Ser404=)
c.1371C= (p.Ser457=)
c.1140C= (p.Ser380=)
12g.66455470G>TCA480573930GRIP1c.1362C>A (p.Ser454=)
c.1293C>A (p.Ser431=)
c.1137C>A (p.Ser379=)
c.399C>A
c.874+7454C>A (n.874+7454C>A)
c.737C>A
c.969C>A (p.Ser323=)
c.337+60149C>A (n.337+60149C>A)
c.595C>A
c.1296C>A (p.Ser432=)
c.1215C>A (p.Ser405=)
c.1518C>A (p.Ser506=)
c.1125C>A (p.Ser375=)
c.1212C>A (p.Ser404=)
c.1371C>A (p.Ser457=)
c.1140C>A (p.Ser380=)
12g.66455471G>ACA385625975GRIP1c.1361C>T (p.Ser454Phe)
c.1292C>T (p.Ser431Phe)
c.1136C>T (p.Ser379Phe)
c.398C>T
c.874+7453C>T (n.874+7453C>T)
c.736C>T
c.968C>T (p.Ser323Phe)
c.337+60148C>T (n.337+60148C>T)
c.594C>T
c.1295C>T (p.Ser432Phe)
c.1214C>T (p.Ser405Phe)
c.1517C>T (p.Ser506Phe)
c.1124C>T (p.Ser375Phe)
c.1211C>T (p.Ser404Phe)
c.1370C>T (p.Ser457Phe)
c.1139C>T (p.Ser380Phe)
 dbSNP gnomAD v2 gnomAD v4
12g.66455471G>CCA385625976GRIP1c.1361C>G (p.Ser454Cys)
c.1292C>G (p.Ser431Cys)
c.1136C>G (p.Ser379Cys)
c.398C>G
c.874+7453C>G (n.874+7453C>G)
c.736C>G
c.968C>G (p.Ser323Cys)
c.337+60148C>G (n.337+60148C>G)
c.594C>G
c.1295C>G (p.Ser432Cys)
c.1214C>G (p.Ser405Cys)
c.1517C>G (p.Ser506Cys)
c.1124C>G (p.Ser375Cys)
c.1211C>G (p.Ser404Cys)
c.1370C>G (p.Ser457Cys)
c.1139C>G (p.Ser380Cys)
12g.66455471G=CA2043057195GRIP1c.1361C= (p.Ser454=)
c.1292C= (p.Ser431=)
c.1136C= (p.Ser379=)
c.398C=
c.874+7453C= (n.874+7453C=)
c.736C=
c.968C= (p.Ser323=)
c.337+60148C= (n.337+60148C=)
c.594C=
c.1295C= (p.Ser432=)
c.1214C= (p.Ser405=)
c.1517C= (p.Ser506=)
c.1124C= (p.Ser375=)
c.1211C= (p.Ser404=)
c.1370C= (p.Ser457=)
c.1139C= (p.Ser380=)
12g.66455471G>TCA385625978GRIP1c.1361C>A (p.Ser454Tyr)
c.1292C>A (p.Ser431Tyr)
c.1136C>A (p.Ser379Tyr)
c.398C>A
c.874+7453C>A (n.874+7453C>A)
c.736C>A
c.968C>A (p.Ser323Tyr)
c.337+60148C>A (n.337+60148C>A)
c.594C>A
c.1295C>A (p.Ser432Tyr)
c.1214C>A (p.Ser405Tyr)
c.1517C>A (p.Ser506Tyr)
c.1124C>A (p.Ser375Tyr)
c.1211C>A (p.Ser404Tyr)
c.1370C>A (p.Ser457Tyr)
c.1139C>A (p.Ser380Tyr)
12g.66455472A>CCA385625981GRIP1c.1360T>G (p.Ser454Ala)
c.1291T>G (p.Ser431Ala)
c.1135T>G (p.Ser379Ala)
c.397T>G
c.874+7452T>G (n.874+7452T>G)
c.735T>G
c.967T>G (p.Ser323Ala)
c.337+60147T>G (n.337+60147T>G)
c.593T>G
c.1294T>G (p.Ser432Ala)
c.1213T>G (p.Ser405Ala)
c.1516T>G (p.Ser506Ala)
c.1123T>G (p.Ser375Ala)
c.1210T>G (p.Ser404Ala)
c.1369T>G (p.Ser457Ala)
c.1138T>G (p.Ser380Ala)
12g.66455472A>GCA385625983GRIP1c.1360T>C (p.Ser454Pro)
c.1291T>C (p.Ser431Pro)
c.1135T>C (p.Ser379Pro)
c.397T>C
c.874+7452T>C (n.874+7452T>C)
c.735T>C
c.967T>C (p.Ser323Pro)
c.337+60147T>C (n.337+60147T>C)
c.593T>C
c.1294T>C (p.Ser432Pro)
c.1213T>C (p.Ser405Pro)
c.1516T>C (p.Ser506Pro)
c.1123T>C (p.Ser375Pro)
c.1210T>C (p.Ser404Pro)
c.1369T>C (p.Ser457Pro)
c.1138T>C (p.Ser380Pro)
12g.66455472A>TCA385625986GRIP1c.1360T>A (p.Ser454Thr)
c.1291T>A (p.Ser431Thr)
c.1135T>A (p.Ser379Thr)
c.397T>A
c.874+7452T>A (n.874+7452T>A)
c.735T>A
c.967T>A (p.Ser323Thr)
c.337+60147T>A (n.337+60147T>A)
c.593T>A
c.1294T>A (p.Ser432Thr)
c.1213T>A (p.Ser405Thr)
c.1516T>A (p.Ser506Thr)
c.1123T>A (p.Ser375Thr)
c.1210T>A (p.Ser404Thr)
c.1369T>A (p.Ser457Thr)
c.1138T>A (p.Ser380Thr)
12g.66455473G>ACA238353642GRIP1c.1359C>T (p.Tyr453=)
c.1290C>T (p.Tyr430=)
c.1134C>T (p.Tyr378=)
c.396C>T
c.874+7451C>T (n.874+7451C>T)
c.734C>T
c.966C>T (p.Tyr322=)
c.337+60146C>T (n.337+60146C>T)
c.592C>T
c.1293C>T (p.Tyr431=)
c.1212C>T (p.Tyr404=)
c.1515C>T (p.Tyr505=)
c.1122C>T (p.Tyr374=)
c.1209C>T (p.Tyr403=)
c.1368C>T (p.Tyr456=)
c.1137C>T (p.Tyr379=)
 dbSNP gnomAD v2 gnomAD v4
12g.66455473G>CCA385625991GRIP1c.1359C>G (p.Tyr453Ter)
c.1290C>G (p.Tyr430Ter)
c.1134C>G (p.Tyr378Ter)
c.396C>G
c.874+7451C>G (n.874+7451C>G)
c.734C>G
c.966C>G (p.Tyr322Ter)
c.337+60146C>G (n.337+60146C>G)
c.592C>G
c.1293C>G (p.Tyr431Ter)
c.1212C>G (p.Tyr404Ter)
c.1515C>G (p.Tyr505Ter)
c.1122C>G (p.Tyr374Ter)
c.1209C>G (p.Tyr403Ter)
c.1368C>G (p.Tyr456Ter)
c.1137C>G (p.Tyr379Ter)
12g.66455473G=CA2043057196GRIP1c.1359C= (p.Tyr453=)
c.1290C= (p.Tyr430=)
c.1134C= (p.Tyr378=)
c.396C=
c.874+7451C= (n.874+7451C=)
c.734C=
c.966C= (p.Tyr322=)
c.337+60146C= (n.337+60146C=)
c.592C=
c.1293C= (p.Tyr431=)
c.1212C= (p.Tyr404=)
c.1515C= (p.Tyr505=)
c.1122C= (p.Tyr374=)
c.1209C= (p.Tyr403=)
c.1368C= (p.Tyr456=)
c.1137C= (p.Tyr379=)
12g.66455473G>TCA385625992GRIP1c.1359C>A (p.Tyr453Ter)
c.1290C>A (p.Tyr430Ter)
c.1134C>A (p.Tyr378Ter)
c.396C>A
c.874+7451C>A (n.874+7451C>A)
c.734C>A
c.966C>A (p.Tyr322Ter)
c.337+60146C>A (n.337+60146C>A)
c.592C>A
c.1293C>A (p.Tyr431Ter)
c.1212C>A (p.Tyr404Ter)
c.1515C>A (p.Tyr505Ter)
c.1122C>A (p.Tyr374Ter)
c.1209C>A (p.Tyr403Ter)
c.1368C>A (p.Tyr456Ter)
c.1137C>A (p.Tyr379Ter)
12g.66455474T>ACA385625995GRIP1c.1358A>T (p.Tyr453Phe)
c.1289A>T (p.Tyr430Phe)
c.1133A>T (p.Tyr378Phe)
c.395A>T
c.874+7450A>T (n.874+7450A>T)
c.733A>T
c.965A>T (p.Tyr322Phe)
c.337+60145A>T (n.337+60145A>T)
c.591A>T
c.1292A>T (p.Tyr431Phe)
c.1211A>T (p.Tyr404Phe)
c.1514A>T (p.Tyr505Phe)
c.1121A>T (p.Tyr374Phe)
c.1208A>T (p.Tyr403Phe)
c.1367A>T (p.Tyr456Phe)
c.1136A>T (p.Tyr379Phe)
 gnomAD v4
12g.66455474T>CCA385625997GRIP1c.1358A>G (p.Tyr453Cys)
c.1289A>G (p.Tyr430Cys)
c.1133A>G (p.Tyr378Cys)
c.395A>G
c.874+7450A>G (n.874+7450A>G)
c.733A>G
c.965A>G (p.Tyr322Cys)
c.337+60145A>G (n.337+60145A>G)
c.591A>G
c.1292A>G (p.Tyr431Cys)
c.1211A>G (p.Tyr404Cys)
c.1514A>G (p.Tyr505Cys)
c.1121A>G (p.Tyr374Cys)
c.1208A>G (p.Tyr403Cys)
c.1367A>G (p.Tyr456Cys)
c.1136A>G (p.Tyr379Cys)
 dbSNP gnomAD v3 gnomAD v4
12g.66455474T>GCA385625999GRIP1c.1358A>C (p.Tyr453Ser)
c.1289A>C (p.Tyr430Ser)
c.1133A>C (p.Tyr378Ser)
c.395A>C
c.874+7450A>C (n.874+7450A>C)
c.733A>C
c.965A>C (p.Tyr322Ser)
c.337+60145A>C (n.337+60145A>C)
c.591A>C
c.1292A>C (p.Tyr431Ser)
c.1211A>C (p.Tyr404Ser)
c.1514A>C (p.Tyr505Ser)
c.1121A>C (p.Tyr374Ser)
c.1208A>C (p.Tyr403Ser)
c.1367A>C (p.Tyr456Ser)
c.1136A>C (p.Tyr379Ser)
12g.66455474T=CA2043057197GRIP1c.1358A= (p.Tyr453=)
c.1289A= (p.Tyr430=)
c.1133A= (p.Tyr378=)
c.395A=
c.874+7450A= (n.874+7450A=)
c.733A=
c.965A= (p.Tyr322=)
c.337+60145A= (n.337+60145A=)
c.591A=
c.1292A= (p.Tyr431=)
c.1211A= (p.Tyr404=)
c.1514A= (p.Tyr505=)
c.1121A= (p.Tyr374=)
c.1208A= (p.Tyr403=)
c.1367A= (p.Tyr456=)
c.1136A= (p.Tyr379=)
12g.66455475A=CA2043057198GRIP1c.1357T= (p.Tyr453=)
c.1288T= (p.Tyr430=)
c.1132T= (p.Tyr378=)
c.394T=
c.874+7449T= (n.874+7449T=)
c.732T=
c.964T= (p.Tyr322=)
c.337+60144T= (n.337+60144T=)
c.590T=
c.1291T= (p.Tyr431=)
c.1210T= (p.Tyr404=)
c.1513T= (p.Tyr505=)
c.1120T= (p.Tyr374=)
c.1207T= (p.Tyr403=)
c.1366T= (p.Tyr456=)
c.1135T= (p.Tyr379=)
12g.66455475A>CCA385626003GRIP1c.1357T>G (p.Tyr453Asp)
c.1288T>G (p.Tyr430Asp)
c.1132T>G (p.Tyr378Asp)
c.394T>G
c.874+7449T>G (n.874+7449T>G)
c.732T>G
c.964T>G (p.Tyr322Asp)
c.337+60144T>G (n.337+60144T>G)
c.590T>G
c.1291T>G (p.Tyr431Asp)
c.1210T>G (p.Tyr404Asp)
c.1513T>G (p.Tyr505Asp)
c.1120T>G (p.Tyr374Asp)
c.1207T>G (p.Tyr403Asp)
c.1366T>G (p.Tyr456Asp)
c.1135T>G (p.Tyr379Asp)
12g.66455475A>GCA385626004GRIP1c.1357T>C (p.Tyr453His)
c.1288T>C (p.Tyr430His)
c.1132T>C (p.Tyr378His)
c.394T>C
c.874+7449T>C (n.874+7449T>C)
c.732T>C
c.964T>C (p.Tyr322His)
c.337+60144T>C (n.337+60144T>C)
c.590T>C
c.1291T>C (p.Tyr431His)
c.1210T>C (p.Tyr404His)
c.1513T>C (p.Tyr505His)
c.1120T>C (p.Tyr374His)
c.1207T>C (p.Tyr403His)
c.1366T>C (p.Tyr456His)
c.1135T>C (p.Tyr379His)
12g.66455475A>TCA385626002GRIP1c.1357T>A (p.Tyr453Asn)
c.1288T>A (p.Tyr430Asn)
c.1132T>A (p.Tyr378Asn)
c.394T>A
c.874+7449T>A (n.874+7449T>A)
c.732T>A
c.964T>A (p.Tyr322Asn)
c.337+60144T>A (n.337+60144T>A)
c.590T>A
c.1291T>A (p.Tyr431Asn)
c.1210T>A (p.Tyr404Asn)
c.1513T>A (p.Tyr505Asn)
c.1120T>A (p.Tyr374Asn)
c.1207T>A (p.Tyr403Asn)
c.1366T>A (p.Tyr456Asn)
c.1135T>A (p.Tyr379Asn)
 dbSNP
12g.66455476G>ACA480573932GRIP1c.1356C>T (p.Leu452=)
c.1287C>T (p.Leu429=)
c.1131C>T (p.Leu377=)
c.393C>T
c.874+7448C>T (n.874+7448C>T)
c.731C>T
c.963C>T (p.Leu321=)
c.337+60143C>T (n.337+60143C>T)
c.589C>T
c.1290C>T (p.Leu430=)
c.1209C>T (p.Leu403=)
c.1512C>T (p.Leu504=)
c.1119C>T (p.Leu373=)
c.1206C>T (p.Leu402=)
c.1365C>T (p.Leu455=)
c.1134C>T (p.Leu378=)
 dbSNP gnomAD v2 gnomAD v4
12g.66455476G>CCA480573933GRIP1c.1356C>G (p.Leu452=)
c.1287C>G (p.Leu429=)
c.1131C>G (p.Leu377=)
c.393C>G
c.874+7448C>G (n.874+7448C>G)
c.731C>G
c.963C>G (p.Leu321=)
c.337+60143C>G (n.337+60143C>G)
c.589C>G
c.1290C>G (p.Leu430=)
c.1209C>G (p.Leu403=)
c.1512C>G (p.Leu504=)
c.1119C>G (p.Leu373=)
c.1206C>G (p.Leu402=)
c.1365C>G (p.Leu455=)
c.1134C>G (p.Leu378=)
 gnomAD v4
12g.66455476G=CA2043057199GRIP1c.1356C= (p.Leu452=)
c.1287C= (p.Leu429=)
c.1131C= (p.Leu377=)
c.393C=
c.874+7448C= (n.874+7448C=)
c.731C=
c.963C= (p.Leu321=)
c.337+60143C= (n.337+60143C=)
c.589C=
c.1290C= (p.Leu430=)
c.1209C= (p.Leu403=)
c.1512C= (p.Leu504=)
c.1119C= (p.Leu373=)
c.1206C= (p.Leu402=)
c.1365C= (p.Leu455=)
c.1134C= (p.Leu378=)
12g.66455476G>TCA6674418GRIP1c.1356C>A (p.Leu452=)
c.1287C>A (p.Leu429=)
c.1131C>A (p.Leu377=)
c.393C>A
c.874+7448C>A (n.874+7448C>A)
c.731C>A
c.963C>A (p.Leu321=)
c.337+60143C>A (n.337+60143C>A)
c.589C>A
c.1290C>A (p.Leu430=)
c.1209C>A (p.Leu403=)
c.1512C>A (p.Leu504=)
c.1119C>A (p.Leu373=)
c.1206C>A (p.Leu402=)
c.1365C>A (p.Leu455=)
c.1134C>A (p.Leu378=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.66455477A=CA2043057200GRIP1c.1355T= (p.Leu452=)
c.1286T= (p.Leu429=)
c.1130T= (p.Leu377=)
c.392T=
c.874+7447T= (n.874+7447T=)
c.730T=
c.962T= (p.Leu321=)
c.337+60142T= (n.337+60142T=)
c.588T=
c.1289T= (p.Leu430=)
c.1208T= (p.Leu403=)
c.1511T= (p.Leu504=)
c.1118T= (p.Leu373=)
c.1205T= (p.Leu402=)
c.1364T= (p.Leu455=)
c.1133T= (p.Leu378=)
12g.66455477A>CCA6674419GRIP1c.1355T>G (p.Leu452Arg)
c.1286T>G (p.Leu429Arg)
c.1130T>G (p.Leu377Arg)
c.392T>G
c.874+7447T>G (n.874+7447T>G)
c.730T>G
c.962T>G (p.Leu321Arg)
c.337+60142T>G (n.337+60142T>G)
c.588T>G
c.1289T>G (p.Leu430Arg)
c.1208T>G (p.Leu403Arg)
c.1511T>G (p.Leu504Arg)
c.1118T>G (p.Leu373Arg)
c.1205T>G (p.Leu402Arg)
c.1364T>G (p.Leu455Arg)
c.1133T>G (p.Leu378Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.66455477A>GCA385626008GRIP1c.1355T>C (p.Leu452Pro)
c.1286T>C (p.Leu429Pro)
c.1130T>C (p.Leu377Pro)
c.392T>C
c.874+7447T>C (n.874+7447T>C)
c.730T>C
c.962T>C (p.Leu321Pro)
c.337+60142T>C (n.337+60142T>C)
c.588T>C
c.1289T>C (p.Leu430Pro)
c.1208T>C (p.Leu403Pro)
c.1511T>C (p.Leu504Pro)
c.1118T>C (p.Leu373Pro)
c.1205T>C (p.Leu402Pro)
c.1364T>C (p.Leu455Pro)
c.1133T>C (p.Leu378Pro)
12g.66455477A>TCA385626013GRIP1c.1355T>A (p.Leu452His)
c.1286T>A (p.Leu429His)
c.1130T>A (p.Leu377His)
c.392T>A
c.874+7447T>A (n.874+7447T>A)
c.730T>A
c.962T>A (p.Leu321His)
c.337+60142T>A (n.337+60142T>A)
c.588T>A
c.1289T>A (p.Leu430His)
c.1208T>A (p.Leu403His)
c.1511T>A (p.Leu504His)
c.1118T>A (p.Leu373His)
c.1205T>A (p.Leu402His)
c.1364T>A (p.Leu455His)
c.1133T>A (p.Leu378His)

Number of alleles fetched