Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37165511G>ACA3238040CPLANE1c.7533+28C>T (n.7533+28C>T)
n.681C>T
c.4545+28C>T (n.4545+28C>T)
c.605+28C>T
c.4677+28C>T (n.4677+28C>T)
c.7530+28C>T (n.7530+28C>T)
c.7404+28C>T (n.7404+28C>T)
c.4176+28C>T (n.4176+28C>T)
c.2106+28C>T (n.2106+28C>T)
c.7215+28C>T (n.7215+28C>T)
c.6861+28C>T (n.6861+28C>T)
c.4758+28C>T (n.4758+28C>T)
n.7708+28C>T
c.7344+28C>T (n.7344+28C>T)
c.6540+28C>T (n.6540+28C>T)
c.6345+28C>T (n.6345+28C>T)
n.7757+28C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37165511G=CA1539664121CPLANE1c.7533+28C= (n.7533+28C=)
n.681C=
c.4545+28C= (n.4545+28C=)
c.605+28C=
c.4677+28C= (n.4677+28C=)
c.7530+28C= (n.7530+28C=)
c.7404+28C= (n.7404+28C=)
c.4176+28C= (n.4176+28C=)
c.2106+28C= (n.2106+28C=)
c.7215+28C= (n.7215+28C=)
c.6861+28C= (n.6861+28C=)
c.4758+28C= (n.4758+28C=)
n.7708+28C=
c.7344+28C= (n.7344+28C=)
c.6540+28C= (n.6540+28C=)
c.6345+28C= (n.6345+28C=)
n.7757+28C=
5g.37165512G>ACA2673612234CPLANE1c.7533+27C>T (n.7533+27C>T)
n.680C>T
c.4545+27C>T (n.4545+27C>T)
c.605+27C>T
c.4677+27C>T (n.4677+27C>T)
c.7530+27C>T (n.7530+27C>T)
c.7404+27C>T (n.7404+27C>T)
c.4176+27C>T (n.4176+27C>T)
c.2106+27C>T (n.2106+27C>T)
c.7215+27C>T (n.7215+27C>T)
c.6861+27C>T (n.6861+27C>T)
c.4758+27C>T (n.4758+27C>T)
n.7708+27C>T
c.7344+27C>T (n.7344+27C>T)
c.6540+27C>T (n.6540+27C>T)
c.6345+27C>T (n.6345+27C>T)
n.7757+27C>T
 gnomAD v4
5g.37165512G>TCA2673612235CPLANE1c.7533+27C>A (n.7533+27C>A)
n.680C>A
c.4545+27C>A (n.4545+27C>A)
c.605+27C>A
c.4677+27C>A (n.4677+27C>A)
c.7530+27C>A (n.7530+27C>A)
c.7404+27C>A (n.7404+27C>A)
c.4176+27C>A (n.4176+27C>A)
c.2106+27C>A (n.2106+27C>A)
c.7215+27C>A (n.7215+27C>A)
c.6861+27C>A (n.6861+27C>A)
c.4758+27C>A (n.4758+27C>A)
n.7708+27C>A
c.7344+27C>A (n.7344+27C>A)
c.6540+27C>A (n.6540+27C>A)
c.6345+27C>A (n.6345+27C>A)
n.7757+27C>A
 gnomAD v4
5g.37165520T>ACA3238041CPLANE1c.7533+19A>T (n.7533+19A>T)
n.672A>T
c.4545+19A>T (n.4545+19A>T)
c.605+19A>T
c.4677+19A>T (n.4677+19A>T)
c.7530+19A>T (n.7530+19A>T)
c.7404+19A>T (n.7404+19A>T)
c.4176+19A>T (n.4176+19A>T)
c.2106+19A>T (n.2106+19A>T)
c.7215+19A>T (n.7215+19A>T)
c.6861+19A>T (n.6861+19A>T)
c.4758+19A>T (n.4758+19A>T)
n.7708+19A>T
c.7344+19A>T (n.7344+19A>T)
c.6540+19A>T (n.6540+19A>T)
c.6345+19A>T (n.6345+19A>T)
n.7757+19A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.37165520T>CCA810286454CPLANE1c.7533+19A>G (n.7533+19A>G)
n.672A>G
c.4545+19A>G (n.4545+19A>G)
c.605+19A>G
c.4677+19A>G (n.4677+19A>G)
c.7530+19A>G (n.7530+19A>G)
c.7404+19A>G (n.7404+19A>G)
c.4176+19A>G (n.4176+19A>G)
c.2106+19A>G (n.2106+19A>G)
c.7215+19A>G (n.7215+19A>G)
c.6861+19A>G (n.6861+19A>G)
c.4758+19A>G (n.4758+19A>G)
n.7708+19A>G
c.7344+19A>G (n.7344+19A>G)
c.6540+19A>G (n.6540+19A>G)
c.6345+19A>G (n.6345+19A>G)
n.7757+19A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.37165520T=CA1539664126CPLANE1c.7533+19A= (n.7533+19A=)
n.672A=
c.4545+19A= (n.4545+19A=)
c.605+19A=
c.4677+19A= (n.4677+19A=)
c.7530+19A= (n.7530+19A=)
c.7404+19A= (n.7404+19A=)
c.4176+19A= (n.4176+19A=)
c.2106+19A= (n.2106+19A=)
c.7215+19A= (n.7215+19A=)
c.6861+19A= (n.6861+19A=)
c.4758+19A= (n.4758+19A=)
n.7708+19A=
c.7344+19A= (n.7344+19A=)
c.6540+19A= (n.6540+19A=)
c.6345+19A= (n.6345+19A=)
n.7757+19A=
5g.37165522T>CCA3238042CPLANE1c.7533+17A>G (n.7533+17A>G)
n.670A>G
c.4545+17A>G (n.4545+17A>G)
c.605+17A>G
c.4677+17A>G (n.4677+17A>G)
c.7530+17A>G (n.7530+17A>G)
c.7404+17A>G (n.7404+17A>G)
c.4176+17A>G (n.4176+17A>G)
c.2106+17A>G (n.2106+17A>G)
c.7215+17A>G (n.7215+17A>G)
c.6861+17A>G (n.6861+17A>G)
c.4758+17A>G (n.4758+17A>G)
n.7708+17A>G
c.7344+17A>G (n.7344+17A>G)
c.6540+17A>G (n.6540+17A>G)
c.6345+17A>G (n.6345+17A>G)
n.7757+17A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.37165522T=CA1539664129CPLANE1c.7533+17A= (n.7533+17A=)
n.670A=
c.4545+17A= (n.4545+17A=)
c.605+17A=
c.4677+17A= (n.4677+17A=)
c.7530+17A= (n.7530+17A=)
c.7404+17A= (n.7404+17A=)
c.4176+17A= (n.4176+17A=)
c.2106+17A= (n.2106+17A=)
c.7215+17A= (n.7215+17A=)
c.6861+17A= (n.6861+17A=)
c.4758+17A= (n.4758+17A=)
n.7708+17A=
c.7344+17A= (n.7344+17A=)
c.6540+17A= (n.6540+17A=)
c.6345+17A= (n.6345+17A=)
n.7757+17A=
5g.37165523A=CA1539664132CPLANE1c.7533+16T= (n.7533+16T=)
n.669T=
c.4545+16T= (n.4545+16T=)
c.605+16T=
c.4677+16T= (n.4677+16T=)
c.7530+16T= (n.7530+16T=)
c.7404+16T= (n.7404+16T=)
c.4176+16T= (n.4176+16T=)
c.2106+16T= (n.2106+16T=)
c.7215+16T= (n.7215+16T=)
c.6861+16T= (n.6861+16T=)
c.4758+16T= (n.4758+16T=)
n.7708+16T=
c.7344+16T= (n.7344+16T=)
c.6540+16T= (n.6540+16T=)
c.6345+16T= (n.6345+16T=)
n.7757+16T=
5g.37165523A>GCA3238043CPLANE1c.7533+16T>C (n.7533+16T>C)
n.669T>C
c.4545+16T>C (n.4545+16T>C)
c.605+16T>C
c.4677+16T>C (n.4677+16T>C)
c.7530+16T>C (n.7530+16T>C)
c.7404+16T>C (n.7404+16T>C)
c.4176+16T>C (n.4176+16T>C)
c.2106+16T>C (n.2106+16T>C)
c.7215+16T>C (n.7215+16T>C)
c.6861+16T>C (n.6861+16T>C)
c.4758+16T>C (n.4758+16T>C)
n.7708+16T>C
c.7344+16T>C (n.7344+16T>C)
c.6540+16T>C (n.6540+16T>C)
c.6345+16T>C (n.6345+16T>C)
n.7757+16T>C
 dbSNP ExAC gnomAD v2
5g.37165524G>ACA2765915017CPLANE1c.7533+15C>T (n.7533+15C>T)
n.668C>T
c.4545+15C>T (n.4545+15C>T)
c.605+15C>T
c.4677+15C>T (n.4677+15C>T)
c.7530+15C>T (n.7530+15C>T)
c.7404+15C>T (n.7404+15C>T)
c.4176+15C>T (n.4176+15C>T)
c.2106+15C>T (n.2106+15C>T)
c.7215+15C>T (n.7215+15C>T)
c.6861+15C>T (n.6861+15C>T)
c.4758+15C>T (n.4758+15C>T)
n.7708+15C>T
c.7344+15C>T (n.7344+15C>T)
c.6540+15C>T (n.6540+15C>T)
c.6345+15C>T (n.6345+15C>T)
n.7757+15C>T
5g.37165524G>CCA3238044CPLANE1c.7533+15C>G (n.7533+15C>G)
n.668C>G
c.4545+15C>G (n.4545+15C>G)
c.605+15C>G
c.4677+15C>G (n.4677+15C>G)
c.7530+15C>G (n.7530+15C>G)
c.7404+15C>G (n.7404+15C>G)
c.4176+15C>G (n.4176+15C>G)
c.2106+15C>G (n.2106+15C>G)
c.7215+15C>G (n.7215+15C>G)
c.6861+15C>G (n.6861+15C>G)
c.4758+15C>G (n.4758+15C>G)
n.7708+15C>G
c.7344+15C>G (n.7344+15C>G)
c.6540+15C>G (n.6540+15C>G)
c.6345+15C>G (n.6345+15C>G)
n.7757+15C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37165524G=CA1539664135CPLANE1c.7533+15C= (n.7533+15C=)
n.668C=
c.4545+15C= (n.4545+15C=)
c.605+15C=
c.4677+15C= (n.4677+15C=)
c.7530+15C= (n.7530+15C=)
c.7404+15C= (n.7404+15C=)
c.4176+15C= (n.4176+15C=)
c.2106+15C= (n.2106+15C=)
c.7215+15C= (n.7215+15C=)
c.6861+15C= (n.6861+15C=)
c.4758+15C= (n.4758+15C=)
n.7708+15C=
c.7344+15C= (n.7344+15C=)
c.6540+15C= (n.6540+15C=)
c.6345+15C= (n.6345+15C=)
n.7757+15C=
5g.37165525C>ACA2673612236CPLANE1c.7533+14G>T (n.7533+14G>T)
n.667G>T
c.4545+14G>T (n.4545+14G>T)
c.605+14G>T
c.4677+14G>T (n.4677+14G>T)
c.7530+14G>T (n.7530+14G>T)
c.7404+14G>T (n.7404+14G>T)
c.4176+14G>T (n.4176+14G>T)
c.2106+14G>T (n.2106+14G>T)
c.7215+14G>T (n.7215+14G>T)
c.6861+14G>T (n.6861+14G>T)
c.4758+14G>T (n.4758+14G>T)
n.7708+14G>T
c.7344+14G>T (n.7344+14G>T)
c.6540+14G>T (n.6540+14G>T)
c.6345+14G>T (n.6345+14G>T)
n.7757+14G>T
 gnomAD v4
5g.37165525C>TCA650117899CPLANE1c.7533+14G>A (n.7533+14G>A)
n.667G>A
c.4545+14G>A (n.4545+14G>A)
c.605+14G>A
c.4677+14G>A (n.4677+14G>A)
c.7530+14G>A (n.7530+14G>A)
c.7404+14G>A (n.7404+14G>A)
c.4176+14G>A (n.4176+14G>A)
c.2106+14G>A (n.2106+14G>A)
c.7215+14G>A (n.7215+14G>A)
c.6861+14G>A (n.6861+14G>A)
c.4758+14G>A (n.4758+14G>A)
n.7708+14G>A
c.7344+14G>A (n.7344+14G>A)
c.6540+14G>A (n.6540+14G>A)
c.6345+14G>A (n.6345+14G>A)
n.7757+14G>A
 COSMIC
5g.37165526A>GCA2573139637CPLANE1c.7533+13T>C (n.7533+13T>C)
n.666T>C
c.4545+13T>C (n.4545+13T>C)
c.605+13T>C
c.4677+13T>C (n.4677+13T>C)
c.7530+13T>C (n.7530+13T>C)
c.7404+13T>C (n.7404+13T>C)
c.4176+13T>C (n.4176+13T>C)
c.2106+13T>C (n.2106+13T>C)
c.7215+13T>C (n.7215+13T>C)
c.6861+13T>C (n.6861+13T>C)
c.4758+13T>C (n.4758+13T>C)
n.7708+13T>C
c.7344+13T>C (n.7344+13T>C)
c.6540+13T>C (n.6540+13T>C)
c.6345+13T>C (n.6345+13T>C)
n.7757+13T>C
 ClinVar dbSNP
5g.37165527G>CCA2673612237CPLANE1c.7533+12C>G (n.7533+12C>G)
n.665C>G
c.4545+12C>G (n.4545+12C>G)
c.605+12C>G
c.4677+12C>G (n.4677+12C>G)
c.7530+12C>G (n.7530+12C>G)
c.7404+12C>G (n.7404+12C>G)
c.4176+12C>G (n.4176+12C>G)
c.2106+12C>G (n.2106+12C>G)
c.7215+12C>G (n.7215+12C>G)
c.6861+12C>G (n.6861+12C>G)
c.4758+12C>G (n.4758+12C>G)
n.7708+12C>G
c.7344+12C>G (n.7344+12C>G)
c.6540+12C>G (n.6540+12C>G)
c.6345+12C>G (n.6345+12C>G)
n.7757+12C>G
 gnomAD v4
5g.37165527G>TCA2578290829CPLANE1c.7533+12C>A (n.7533+12C>A)
n.665C>A
c.4545+12C>A (n.4545+12C>A)
c.605+12C>A
c.4677+12C>A (n.4677+12C>A)
c.7530+12C>A (n.7530+12C>A)
c.7404+12C>A (n.7404+12C>A)
c.4176+12C>A (n.4176+12C>A)
c.2106+12C>A (n.2106+12C>A)
c.7215+12C>A (n.7215+12C>A)
c.6861+12C>A (n.6861+12C>A)
c.4758+12C>A (n.4758+12C>A)
n.7708+12C>A
c.7344+12C>A (n.7344+12C>A)
c.6540+12C>A (n.6540+12C>A)
c.6345+12C>A (n.6345+12C>A)
n.7757+12C>A
 gnomAD v4
5g.37165528T>CCA3238045CPLANE1c.7533+11A>G (n.7533+11A>G)
n.664A>G
c.4545+11A>G (n.4545+11A>G)
c.605+11A>G
c.4677+11A>G (n.4677+11A>G)
c.7530+11A>G (n.7530+11A>G)
c.7404+11A>G (n.7404+11A>G)
c.4176+11A>G (n.4176+11A>G)
c.2106+11A>G (n.2106+11A>G)
c.7215+11A>G (n.7215+11A>G)
c.6861+11A>G (n.6861+11A>G)
c.4758+11A>G (n.4758+11A>G)
n.7708+11A>G
c.7344+11A>G (n.7344+11A>G)
c.6540+11A>G (n.6540+11A>G)
c.6345+11A>G (n.6345+11A>G)
n.7757+11A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37165528T=CA1539664137CPLANE1c.7533+11A= (n.7533+11A=)
n.664A=
c.4545+11A= (n.4545+11A=)
c.605+11A=
c.4677+11A= (n.4677+11A=)
c.7530+11A= (n.7530+11A=)
c.7404+11A= (n.7404+11A=)
c.4176+11A= (n.4176+11A=)
c.2106+11A= (n.2106+11A=)
c.7215+11A= (n.7215+11A=)
c.6861+11A= (n.6861+11A=)
c.4758+11A= (n.4758+11A=)
n.7708+11A=
c.7344+11A= (n.7344+11A=)
c.6540+11A= (n.6540+11A=)
c.6345+11A= (n.6345+11A=)
n.7757+11A=
5g.37165532delCA2673612238CPLANE1c.7533+11del (n.7533+11del)
n.664del
c.4545+11del (n.4545+11del)
c.605+11del
c.4677+11del (n.4677+11del)
c.7530+11del (n.7530+11del)
c.7404+11del (n.7404+11del)
c.4176+11del (n.4176+11del)
c.2106+11del (n.2106+11del)
c.7215+11del (n.7215+11del)
c.6861+11del (n.6861+11del)
c.4758+11del (n.4758+11del)
n.7708+11del
c.7344+11del (n.7344+11del)
c.6540+11del (n.6540+11del)
c.6345+11del (n.6345+11del)
n.7757+11del
 gnomAD v4
5g.37165529T>GCA2673612239CPLANE1c.7533+10A>C (n.7533+10A>C)
n.663A>C
c.4545+10A>C (n.4545+10A>C)
c.605+10A>C
c.4677+10A>C (n.4677+10A>C)
c.7530+10A>C (n.7530+10A>C)
c.7404+10A>C (n.7404+10A>C)
c.4176+10A>C (n.4176+10A>C)
c.2106+10A>C (n.2106+10A>C)
c.7215+10A>C (n.7215+10A>C)
c.6861+10A>C (n.6861+10A>C)
c.4758+10A>C (n.4758+10A>C)
n.7708+10A>C
c.7344+10A>C (n.7344+10A>C)
c.6540+10A>C (n.6540+10A>C)
c.6345+10A>C (n.6345+10A>C)
n.7757+10A>C
 gnomAD v4
5g.37165533C=CA1539664141CPLANE1c.7533+6G= (n.7533+6G=)
n.659G=
c.4545+6G= (n.4545+6G=)
c.605+6G=
c.4677+6G= (n.4677+6G=)
c.7530+6G= (n.7530+6G=)
c.7404+6G= (n.7404+6G=)
c.4176+6G= (n.4176+6G=)
c.2106+6G= (n.2106+6G=)
c.7215+6G= (n.7215+6G=)
c.6861+6G= (n.6861+6G=)
c.4758+6G= (n.4758+6G=)
n.7708+6G=
c.7344+6G= (n.7344+6G=)
c.6540+6G= (n.6540+6G=)
c.6345+6G= (n.6345+6G=)
n.7757+6G=
5g.37165533C>TCA559024350CPLANE1c.7533+6G>A (n.7533+6G>A)
n.659G>A
c.4545+6G>A (n.4545+6G>A)
c.605+6G>A
c.4677+6G>A (n.4677+6G>A)
c.7530+6G>A (n.7530+6G>A)
c.7404+6G>A (n.7404+6G>A)
c.4176+6G>A (n.4176+6G>A)
c.2106+6G>A (n.2106+6G>A)
c.7215+6G>A (n.7215+6G>A)
c.6861+6G>A (n.6861+6G>A)
c.4758+6G>A (n.4758+6G>A)
n.7708+6G>A
c.7344+6G>A (n.7344+6G>A)
c.6540+6G>A (n.6540+6G>A)
c.6345+6G>A (n.6345+6G>A)
n.7757+6G>A
 dbSNP gnomAD v2 gnomAD v4
5g.37165534T>CCA117051654CPLANE1c.7533+5A>G (n.7533+5A>G)
n.658A>G
c.4545+5A>G (n.4545+5A>G)
c.605+5A>G
c.4677+5A>G (n.4677+5A>G)
c.7530+5A>G (n.7530+5A>G)
c.7404+5A>G (n.7404+5A>G)
c.4176+5A>G (n.4176+5A>G)
c.2106+5A>G (n.2106+5A>G)
c.7215+5A>G (n.7215+5A>G)
c.6861+5A>G (n.6861+5A>G)
c.4758+5A>G (n.4758+5A>G)
n.7708+5A>G
c.7344+5A>G (n.7344+5A>G)
c.6540+5A>G (n.6540+5A>G)
c.6345+5A>G (n.6345+5A>G)
n.7757+5A>G
 dbSNP gnomAD v4
5g.37165534T=CA1539664145CPLANE1c.7533+5A= (n.7533+5A=)
n.658A=
c.4545+5A= (n.4545+5A=)
c.605+5A=
c.4677+5A= (n.4677+5A=)
c.7530+5A= (n.7530+5A=)
c.7404+5A= (n.7404+5A=)
c.4176+5A= (n.4176+5A=)
c.2106+5A= (n.2106+5A=)
c.7215+5A= (n.7215+5A=)
c.6861+5A= (n.6861+5A=)
c.4758+5A= (n.4758+5A=)
n.7708+5A=
c.7344+5A= (n.7344+5A=)
c.6540+5A= (n.6540+5A=)
c.6345+5A= (n.6345+5A=)
n.7757+5A=
5g.37165536T>ACA2573139638CPLANE1c.7533+3A>T (n.7533+3A>T)
n.656A>T
c.4545+3A>T (n.4545+3A>T)
c.605+3A>T
c.4677+3A>T (n.4677+3A>T)
c.7530+3A>T (n.7530+3A>T)
c.7404+3A>T (n.7404+3A>T)
c.4176+3A>T (n.4176+3A>T)
c.2106+3A>T (n.2106+3A>T)
c.7215+3A>T (n.7215+3A>T)
c.6861+3A>T (n.6861+3A>T)
c.4758+3A>T (n.4758+3A>T)
n.7708+3A>T
c.7344+3A>T (n.7344+3A>T)
c.6540+3A>T (n.6540+3A>T)
c.6345+3A>T (n.6345+3A>T)
n.7757+3A>T
 ClinVar dbSNP
5g.37165536T>CCA1075117618CPLANE1c.7533+3A>G (n.7533+3A>G)
n.656A>G
c.4545+3A>G (n.4545+3A>G)
c.605+3A>G
c.4677+3A>G (n.4677+3A>G)
c.7530+3A>G (n.7530+3A>G)
c.7404+3A>G (n.7404+3A>G)
c.4176+3A>G (n.4176+3A>G)
c.2106+3A>G (n.2106+3A>G)
c.7215+3A>G (n.7215+3A>G)
c.6861+3A>G (n.6861+3A>G)
c.4758+3A>G (n.4758+3A>G)
n.7708+3A>G
c.7344+3A>G (n.7344+3A>G)
c.6540+3A>G (n.6540+3A>G)
c.6345+3A>G (n.6345+3A>G)
n.7757+3A>G
 dbSNP gnomAD v3 gnomAD v4
5g.37165536T=CA1539664147CPLANE1c.7533+3A= (n.7533+3A=)
n.656A=
c.4545+3A= (n.4545+3A=)
c.605+3A=
c.4677+3A= (n.4677+3A=)
c.7530+3A= (n.7530+3A=)
c.7404+3A= (n.7404+3A=)
c.4176+3A= (n.4176+3A=)
c.2106+3A= (n.2106+3A=)
c.7215+3A= (n.7215+3A=)
c.6861+3A= (n.6861+3A=)
c.4758+3A= (n.4758+3A=)
n.7708+3A=
c.7344+3A= (n.7344+3A=)
c.6540+3A= (n.6540+3A=)
c.6345+3A= (n.6345+3A=)
n.7757+3A=
5g.37165537A>CCA359476171CPLANE1c.7533+2T>G (n.7533+2T>G)
n.655T>G
c.4545+2T>G (n.4545+2T>G)
c.605+2T>G
c.4677+2T>G (n.4677+2T>G)
c.7530+2T>G (n.7530+2T>G)
c.7404+2T>G (n.7404+2T>G)
c.4176+2T>G (n.4176+2T>G)
c.2106+2T>G (n.2106+2T>G)
c.7215+2T>G (n.7215+2T>G)
c.6861+2T>G (n.6861+2T>G)
c.4758+2T>G (n.4758+2T>G)
n.7708+2T>G
c.7344+2T>G (n.7344+2T>G)
c.6540+2T>G (n.6540+2T>G)
c.6345+2T>G (n.6345+2T>G)
n.7757+2T>G
5g.37165537A>GCA359476172CPLANE1c.7533+2T>C (n.7533+2T>C)
n.655T>C
c.4545+2T>C (n.4545+2T>C)
c.605+2T>C
c.4677+2T>C (n.4677+2T>C)
c.7530+2T>C (n.7530+2T>C)
c.7404+2T>C (n.7404+2T>C)
c.4176+2T>C (n.4176+2T>C)
c.2106+2T>C (n.2106+2T>C)
c.7215+2T>C (n.7215+2T>C)
c.6861+2T>C (n.6861+2T>C)
c.4758+2T>C (n.4758+2T>C)
n.7708+2T>C
c.7344+2T>C (n.7344+2T>C)
c.6540+2T>C (n.6540+2T>C)
c.6345+2T>C (n.6345+2T>C)
n.7757+2T>C
5g.37165537A>TCA359476173CPLANE1c.7533+2T>A (n.7533+2T>A)
n.655T>A
c.4545+2T>A (n.4545+2T>A)
c.605+2T>A
c.4677+2T>A (n.4677+2T>A)
c.7530+2T>A (n.7530+2T>A)
c.7404+2T>A (n.7404+2T>A)
c.4176+2T>A (n.4176+2T>A)
c.2106+2T>A (n.2106+2T>A)
c.7215+2T>A (n.7215+2T>A)
c.6861+2T>A (n.6861+2T>A)
c.4758+2T>A (n.4758+2T>A)
n.7708+2T>A
c.7344+2T>A (n.7344+2T>A)
c.6540+2T>A (n.6540+2T>A)
c.6345+2T>A (n.6345+2T>A)
n.7757+2T>A
5g.37165538C>ACA359476174CPLANE1c.7533+1G>T (n.7533+1G>T)
n.654G>T
c.4545+1G>T (n.4545+1G>T)
c.605+1G>T
c.4677+1G>T (n.4677+1G>T)
c.7530+1G>T (n.7530+1G>T)
c.7404+1G>T (n.7404+1G>T)
c.4176+1G>T (n.4176+1G>T)
c.2106+1G>T (n.2106+1G>T)
c.7215+1G>T (n.7215+1G>T)
c.6861+1G>T (n.6861+1G>T)
c.4758+1G>T (n.4758+1G>T)
n.7708+1G>T
c.7344+1G>T (n.7344+1G>T)
c.6540+1G>T (n.6540+1G>T)
c.6345+1G>T (n.6345+1G>T)
n.7757+1G>T
5g.37165538C=CA1539664151CPLANE1c.7533+1G= (n.7533+1G=)
n.654G=
c.4545+1G= (n.4545+1G=)
c.605+1G=
c.4677+1G= (n.4677+1G=)
c.7530+1G= (n.7530+1G=)
c.7404+1G= (n.7404+1G=)
c.4176+1G= (n.4176+1G=)
c.2106+1G= (n.2106+1G=)
c.7215+1G= (n.7215+1G=)
c.6861+1G= (n.6861+1G=)
c.4758+1G= (n.4758+1G=)
n.7708+1G=
c.7344+1G= (n.7344+1G=)
c.6540+1G= (n.6540+1G=)
c.6345+1G= (n.6345+1G=)
n.7757+1G=
5g.37165538C>GCA359476175CPLANE1c.7533+1G>C (n.7533+1G>C)
n.654G>C
c.4545+1G>C (n.4545+1G>C)
c.605+1G>C
c.4677+1G>C (n.4677+1G>C)
c.7530+1G>C (n.7530+1G>C)
c.7404+1G>C (n.7404+1G>C)
c.4176+1G>C (n.4176+1G>C)
c.2106+1G>C (n.2106+1G>C)
c.7215+1G>C (n.7215+1G>C)
c.6861+1G>C (n.6861+1G>C)
c.4758+1G>C (n.4758+1G>C)
n.7708+1G>C
c.7344+1G>C (n.7344+1G>C)
c.6540+1G>C (n.6540+1G>C)
c.6345+1G>C (n.6345+1G>C)
n.7757+1G>C
5g.37165538C>TCA3238046CPLANE1c.7533+1G>A (n.7533+1G>A)
n.654G>A
c.4545+1G>A (n.4545+1G>A)
c.605+1G>A
c.4677+1G>A (n.4677+1G>A)
c.7530+1G>A (n.7530+1G>A)
c.7404+1G>A (n.7404+1G>A)
c.4176+1G>A (n.4176+1G>A)
c.2106+1G>A (n.2106+1G>A)
c.7215+1G>A (n.7215+1G>A)
c.6861+1G>A (n.6861+1G>A)
c.4758+1G>A (n.4758+1G>A)
n.7708+1G>A
c.7344+1G>A (n.7344+1G>A)
c.6540+1G>A (n.6540+1G>A)
c.6345+1G>A (n.6345+1G>A)
n.7757+1G>A
 ClinVar dbSNP ExAC gnomAD v4
5g.37165539C>ACA359476176CPLANE1c.7533G>T (p.Lys2511Asn)
n.653G>T
c.4545G>T (p.Lys1515Asn)
c.605G>T
c.4677G>T (p.Lys1559Asn)
c.7530G>T (p.Lys2510Asn)
c.7404G>T (p.Lys2468Asn)
c.4176G>T (p.Lys1392Asn)
c.2106G>T (p.Lys702Asn)
c.7215G>T (p.Lys2405Asn)
c.6861G>T (p.Lys2287Asn)
c.4758G>T (p.Lys1586Asn)
n.7708G>T
c.7344G>T (p.Lys2448Asn)
c.6540G>T (p.Lys2180Asn)
c.6345G>T (p.Lys2115Asn)
n.7757G>T
5g.37165539C=CA1539664157CPLANE1c.7533G= (p.Lys2511=)
n.653G=
c.4545G= (p.Lys1515=)
c.605G=
c.4677G= (p.Lys1559=)
c.7530G= (p.Lys2510=)
c.7404G= (p.Lys2468=)
c.4176G= (p.Lys1392=)
c.2106G= (p.Lys702=)
c.7215G= (p.Lys2405=)
c.6861G= (p.Lys2287=)
c.4758G= (p.Lys1586=)
n.7708G=
c.7344G= (p.Lys2448=)
c.6540G= (p.Lys2180=)
c.6345G= (p.Lys2115=)
n.7757G=
5g.37165539C>GCA359476177CPLANE1c.7533G>C (p.Lys2511Asn)
n.653G>C
c.4545G>C (p.Lys1515Asn)
c.605G>C
c.4677G>C (p.Lys1559Asn)
c.7530G>C (p.Lys2510Asn)
c.7404G>C (p.Lys2468Asn)
c.4176G>C (p.Lys1392Asn)
c.2106G>C (p.Lys702Asn)
c.7215G>C (p.Lys2405Asn)
c.6861G>C (p.Lys2287Asn)
c.4758G>C (p.Lys1586Asn)
n.7708G>C
c.7344G>C (p.Lys2448Asn)
c.6540G>C (p.Lys2180Asn)
c.6345G>C (p.Lys2115Asn)
n.7757G>C
5g.37165539C>TCA3238047CPLANE1c.7533G>A (p.Lys2511=)
n.653G>A
c.4545G>A (p.Lys1515=)
c.605G>A
c.4677G>A (p.Lys1559=)
c.7530G>A (p.Lys2510=)
c.7404G>A (p.Lys2468=)
c.4176G>A (p.Lys1392=)
c.2106G>A (p.Lys702=)
c.7215G>A (p.Lys2405=)
c.6861G>A (p.Lys2287=)
c.4758G>A (p.Lys1586=)
n.7708G>A
c.7344G>A (p.Lys2448=)
c.6540G>A (p.Lys2180=)
c.6345G>A (p.Lys2115=)
n.7757G>A
 ClinVar dbSNP ExAC gnomAD v2
5g.37165540T>ACA359476180CPLANE1c.7532A>T (p.Lys2511Met)
n.652A>T
c.4544A>T (p.Lys1515Met)
c.604A>T
c.4676A>T (p.Lys1559Met)
c.7529A>T (p.Lys2510Met)
c.7403A>T (p.Lys2468Met)
c.4175A>T (p.Lys1392Met)
c.2105A>T (p.Lys702Met)
c.7214A>T (p.Lys2405Met)
c.6860A>T (p.Lys2287Met)
c.4757A>T (p.Lys1586Met)
n.7707A>T
c.7343A>T (p.Lys2448Met)
c.6539A>T (p.Lys2180Met)
c.6344A>T (p.Lys2115Met)
n.7756A>T
5g.37165540T>CCA359476178CPLANE1c.7532A>G (p.Lys2511Arg)
n.652A>G
c.4544A>G (p.Lys1515Arg)
c.604A>G
c.4676A>G (p.Lys1559Arg)
c.7529A>G (p.Lys2510Arg)
c.7403A>G (p.Lys2468Arg)
c.4175A>G (p.Lys1392Arg)
c.2105A>G (p.Lys702Arg)
c.7214A>G (p.Lys2405Arg)
c.6860A>G (p.Lys2287Arg)
c.4757A>G (p.Lys1586Arg)
n.7707A>G
c.7343A>G (p.Lys2448Arg)
c.6539A>G (p.Lys2180Arg)
c.6344A>G (p.Lys2115Arg)
n.7756A>G
 gnomAD v4
5g.37165540T>GCA359476179CPLANE1c.7532A>C (p.Lys2511Thr)
n.652A>C
c.4544A>C (p.Lys1515Thr)
c.604A>C
c.4676A>C (p.Lys1559Thr)
c.7529A>C (p.Lys2510Thr)
c.7403A>C (p.Lys2468Thr)
c.4175A>C (p.Lys1392Thr)
c.2105A>C (p.Lys702Thr)
c.7214A>C (p.Lys2405Thr)
c.6860A>C (p.Lys2287Thr)
c.4757A>C (p.Lys1586Thr)
n.7707A>C
c.7343A>C (p.Lys2448Thr)
c.6539A>C (p.Lys2180Thr)
c.6344A>C (p.Lys2115Thr)
n.7756A>C
5g.37165541T>ACA359476181CPLANE1c.7531A>T (p.Lys2511Ter)
n.651A>T
c.4543A>T (p.Lys1515Ter)
c.603A>T
c.4675A>T (p.Lys1559Ter)
c.7528A>T (p.Lys2510Ter)
c.7402A>T (p.Lys2468Ter)
c.4174A>T (p.Lys1392Ter)
c.2104A>T (p.Lys702Ter)
c.7213A>T (p.Lys2405Ter)
c.6859A>T (p.Lys2287Ter)
c.4756A>T (p.Lys1586Ter)
n.7706A>T
c.7342A>T (p.Lys2448Ter)
c.6538A>T (p.Lys2180Ter)
c.6343A>T (p.Lys2115Ter)
n.7755A>T
5g.37165541T>CCA359476182CPLANE1c.7531A>G (p.Lys2511Glu)
n.651A>G
c.4543A>G (p.Lys1515Glu)
c.603A>G
c.4675A>G (p.Lys1559Glu)
c.7528A>G (p.Lys2510Glu)
c.7402A>G (p.Lys2468Glu)
c.4174A>G (p.Lys1392Glu)
c.2104A>G (p.Lys702Glu)
c.7213A>G (p.Lys2405Glu)
c.6859A>G (p.Lys2287Glu)
c.4756A>G (p.Lys1586Glu)
n.7706A>G
c.7342A>G (p.Lys2448Glu)
c.6538A>G (p.Lys2180Glu)
c.6343A>G (p.Lys2115Glu)
n.7755A>G
 gnomAD v4
5g.37165541T>GCA359476183CPLANE1c.7531A>C (p.Lys2511Gln)
n.651A>C
c.4543A>C (p.Lys1515Gln)
c.603A>C
c.4675A>C (p.Lys1559Gln)
c.7528A>C (p.Lys2510Gln)
c.7402A>C (p.Lys2468Gln)
c.4174A>C (p.Lys1392Gln)
c.2104A>C (p.Lys702Gln)
c.7213A>C (p.Lys2405Gln)
c.6859A>C (p.Lys2287Gln)
c.4756A>C (p.Lys1586Gln)
n.7706A>C
c.7342A>C (p.Lys2448Gln)
c.6538A>C (p.Lys2180Gln)
c.6343A>C (p.Lys2115Gln)
n.7755A>C
5g.37165542G>ACA443920099CPLANE1c.7530C>T (p.Pro2510=)
n.650C>T
c.4542C>T (p.Pro1514=)
c.602C>T
c.4674C>T (p.Pro1558=)
c.7527C>T (p.Pro2509=)
c.7401C>T (p.Pro2467=)
c.4173C>T (p.Pro1391=)
c.2103C>T (p.Pro701=)
c.7212C>T (p.Pro2404=)
c.6858C>T (p.Pro2286=)
c.4755C>T (p.Pro1585=)
n.7705C>T
c.7341C>T (p.Pro2447=)
c.6537C>T (p.Pro2179=)
c.6342C>T (p.Pro2114=)
n.7754C>T
5g.37165542G>CCA3238048CPLANE1c.7530C>G (p.Pro2510=)
n.650C>G
c.4542C>G (p.Pro1514=)
c.602C>G
c.4674C>G (p.Pro1558=)
c.7527C>G (p.Pro2509=)
c.7401C>G (p.Pro2467=)
c.4173C>G (p.Pro1391=)
c.2103C>G (p.Pro701=)
c.7212C>G (p.Pro2404=)
c.6858C>G (p.Pro2286=)
c.4755C>G (p.Pro1585=)
n.7705C>G
c.7341C>G (p.Pro2447=)
c.6537C>G (p.Pro2179=)
c.6342C>G (p.Pro2114=)
n.7754C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37165542G=CA1539664162CPLANE1c.7530C= (p.Pro2510=)
n.650C=
c.4542C= (p.Pro1514=)
c.602C=
c.4674C= (p.Pro1558=)
c.7527C= (p.Pro2509=)
c.7401C= (p.Pro2467=)
c.4173C= (p.Pro1391=)
c.2103C= (p.Pro701=)
c.7212C= (p.Pro2404=)
c.6858C= (p.Pro2286=)
c.4755C= (p.Pro1585=)
n.7705C=
c.7341C= (p.Pro2447=)
c.6537C= (p.Pro2179=)
c.6342C= (p.Pro2114=)
n.7754C=
5g.37165542G>TCA443920101CPLANE1c.7530C>A (p.Pro2510=)
n.650C>A
c.4542C>A (p.Pro1514=)
c.602C>A
c.4674C>A (p.Pro1558=)
c.7527C>A (p.Pro2509=)
c.7401C>A (p.Pro2467=)
c.4173C>A (p.Pro1391=)
c.2103C>A (p.Pro701=)
c.7212C>A (p.Pro2404=)
c.6858C>A (p.Pro2286=)
c.4755C>A (p.Pro1585=)
n.7705C>A
c.7341C>A (p.Pro2447=)
c.6537C>A (p.Pro2179=)
c.6342C>A (p.Pro2114=)
n.7754C>A
5g.37165543G>ACA359476184CPLANE1c.7529C>T (p.Pro2510Leu)
n.649C>T
c.4541C>T (p.Pro1514Leu)
c.601C>T
c.4673C>T (p.Pro1558Leu)
c.7526C>T (p.Pro2509Leu)
c.7400C>T (p.Pro2467Leu)
c.4172C>T (p.Pro1391Leu)
c.2102C>T (p.Pro701Leu)
c.7211C>T (p.Pro2404Leu)
c.6857C>T (p.Pro2286Leu)
c.4754C>T (p.Pro1585Leu)
n.7704C>T
c.7340C>T (p.Pro2447Leu)
c.6536C>T (p.Pro2179Leu)
c.6341C>T (p.Pro2114Leu)
n.7753C>T
 gnomAD v4 COSMIC COSMIC
5g.37165543G>CCA359476185CPLANE1c.7529C>G (p.Pro2510Arg)
n.649C>G
c.4541C>G (p.Pro1514Arg)
c.601C>G
c.4673C>G (p.Pro1558Arg)
c.7526C>G (p.Pro2509Arg)
c.7400C>G (p.Pro2467Arg)
c.4172C>G (p.Pro1391Arg)
c.2102C>G (p.Pro701Arg)
c.7211C>G (p.Pro2404Arg)
c.6857C>G (p.Pro2286Arg)
c.4754C>G (p.Pro1585Arg)
n.7704C>G
c.7340C>G (p.Pro2447Arg)
c.6536C>G (p.Pro2179Arg)
c.6341C>G (p.Pro2114Arg)
n.7753C>G
5g.37165543G>TCA359476186CPLANE1c.7529C>A (p.Pro2510His)
n.649C>A
c.4541C>A (p.Pro1514His)
c.601C>A
c.4673C>A (p.Pro1558His)
c.7526C>A (p.Pro2509His)
c.7400C>A (p.Pro2467His)
c.4172C>A (p.Pro1391His)
c.2102C>A (p.Pro701His)
c.7211C>A (p.Pro2404His)
c.6857C>A (p.Pro2286His)
c.4754C>A (p.Pro1585His)
n.7704C>A
c.7340C>A (p.Pro2447His)
c.6536C>A (p.Pro2179His)
c.6341C>A (p.Pro2114His)
n.7753C>A
5g.37165544G>ACA359476187CPLANE1c.7528C>T (p.Pro2510Ser)
n.648C>T
c.4540C>T (p.Pro1514Ser)
c.600C>T
c.4672C>T (p.Pro1558Ser)
c.7525C>T (p.Pro2509Ser)
c.7399C>T (p.Pro2467Ser)
c.4171C>T (p.Pro1391Ser)
c.2101C>T (p.Pro701Ser)
c.7210C>T (p.Pro2404Ser)
c.6856C>T (p.Pro2286Ser)
c.4753C>T (p.Pro1585Ser)
n.7703C>T
c.7339C>T (p.Pro2447Ser)
c.6535C>T (p.Pro2179Ser)
c.6340C>T (p.Pro2114Ser)
n.7752C>T
 gnomAD v4
5g.37165544G>CCA359476188CPLANE1c.7528C>G (p.Pro2510Ala)
n.648C>G
c.4540C>G (p.Pro1514Ala)
c.600C>G
c.4672C>G (p.Pro1558Ala)
c.7525C>G (p.Pro2509Ala)
c.7399C>G (p.Pro2467Ala)
c.4171C>G (p.Pro1391Ala)
c.2101C>G (p.Pro701Ala)
c.7210C>G (p.Pro2404Ala)
c.6856C>G (p.Pro2286Ala)
c.4753C>G (p.Pro1585Ala)
n.7703C>G
c.7339C>G (p.Pro2447Ala)
c.6535C>G (p.Pro2179Ala)
c.6340C>G (p.Pro2114Ala)
n.7752C>G
5g.37165544G>TCA359476189CPLANE1c.7528C>A (p.Pro2510Thr)
n.648C>A
c.4540C>A (p.Pro1514Thr)
c.600C>A
c.4672C>A (p.Pro1558Thr)
c.7525C>A (p.Pro2509Thr)
c.7399C>A (p.Pro2467Thr)
c.4171C>A (p.Pro1391Thr)
c.2101C>A (p.Pro701Thr)
c.7210C>A (p.Pro2404Thr)
c.6856C>A (p.Pro2286Thr)
c.4753C>A (p.Pro1585Thr)
n.7703C>A
c.7339C>A (p.Pro2447Thr)
c.6535C>A (p.Pro2179Thr)
c.6340C>A (p.Pro2114Thr)
n.7752C>A
5g.37165544_37165547dupCA2673612240CPLANE1c.7525_7528dup (p.Pro2510GlnfsTer16)
n.645_648dup
c.4537_4540dup (p.Pro1514GlnfsTer16)
c.597_600dup
c.4669_4672dup (p.Pro1558GlnfsTer16)
c.7522_7525dup (p.Pro2509GlnfsTer16)
c.7396_7399dup (p.Pro2467GlnfsTer16)
c.4168_4171dup (p.Pro1391GlnfsTer16)
c.2098_2101dup (p.Pro701GlnfsTer16)
c.7207_7210dup (p.Pro2404GlnfsTer16)
c.6853_6856dup (p.Pro2286GlnfsTer16)
c.7525_7528dup (p.Pro2510GlnfsTer?)
c.4750_4753dup (p.Pro1585GlnfsTer16)
n.7700_7703dup
c.7336_7339dup (p.Pro2447GlnfsTer16)
c.6532_6535dup (p.Pro2179GlnfsTer16)
c.6337_6340dup (p.Pro2114GlnfsTer16)
n.7749_7752dup
 gnomAD v4
5g.37165545T>ACA359476190CPLANE1c.7527A>T (p.Lys2509Asn)
n.647A>T
c.4539A>T (p.Lys1513Asn)
c.599A>T
c.4671A>T (p.Lys1557Asn)
c.7524A>T (p.Lys2508Asn)
c.7398A>T (p.Lys2466Asn)
c.4170A>T (p.Lys1390Asn)
c.2100A>T (p.Lys700Asn)
c.7209A>T (p.Lys2403Asn)
c.6855A>T (p.Lys2285Asn)
c.4752A>T (p.Lys1584Asn)
n.7702A>T
c.7338A>T (p.Lys2446Asn)
c.6534A>T (p.Lys2178Asn)
c.6339A>T (p.Lys2113Asn)
n.7751A>T
5g.37165545T>CCA443920106CPLANE1c.7527A>G (p.Lys2509=)
n.647A>G
c.4539A>G (p.Lys1513=)
c.599A>G
c.4671A>G (p.Lys1557=)
c.7524A>G (p.Lys2508=)
c.7398A>G (p.Lys2466=)
c.4170A>G (p.Lys1390=)
c.2100A>G (p.Lys700=)
c.7209A>G (p.Lys2403=)
c.6855A>G (p.Lys2285=)
c.4752A>G (p.Lys1584=)
n.7702A>G
c.7338A>G (p.Lys2446=)
c.6534A>G (p.Lys2178=)
c.6339A>G (p.Lys2113=)
n.7751A>G
5g.37165545T>GCA359476191CPLANE1c.7527A>C (p.Lys2509Asn)
n.647A>C
c.4539A>C (p.Lys1513Asn)
c.599A>C
c.4671A>C (p.Lys1557Asn)
c.7524A>C (p.Lys2508Asn)
c.7398A>C (p.Lys2466Asn)
c.4170A>C (p.Lys1390Asn)
c.2100A>C (p.Lys700Asn)
c.7209A>C (p.Lys2403Asn)
c.6855A>C (p.Lys2285Asn)
c.4752A>C (p.Lys1584Asn)
n.7702A>C
c.7338A>C (p.Lys2446Asn)
c.6534A>C (p.Lys2178Asn)
c.6339A>C (p.Lys2113Asn)
n.7751A>C
5g.37165546T>ACA359476192CPLANE1c.7526A>T (p.Lys2509Ile)
n.646A>T
c.4538A>T (p.Lys1513Ile)
c.598A>T
c.4670A>T (p.Lys1557Ile)
c.7523A>T (p.Lys2508Ile)
c.7397A>T (p.Lys2466Ile)
c.4169A>T (p.Lys1390Ile)
c.2099A>T (p.Lys700Ile)
c.7208A>T (p.Lys2403Ile)
c.6854A>T (p.Lys2285Ile)
c.4751A>T (p.Lys1584Ile)
n.7701A>T
c.7337A>T (p.Lys2446Ile)
c.6533A>T (p.Lys2178Ile)
c.6338A>T (p.Lys2113Ile)
n.7750A>T
5g.37165546T>CCA359476194CPLANE1c.7526A>G (p.Lys2509Arg)
n.646A>G
c.4538A>G (p.Lys1513Arg)
c.598A>G
c.4670A>G (p.Lys1557Arg)
c.7523A>G (p.Lys2508Arg)
c.7397A>G (p.Lys2466Arg)
c.4169A>G (p.Lys1390Arg)
c.2099A>G (p.Lys700Arg)
c.7208A>G (p.Lys2403Arg)
c.6854A>G (p.Lys2285Arg)
c.4751A>G (p.Lys1584Arg)
n.7701A>G
c.7337A>G (p.Lys2446Arg)
c.6533A>G (p.Lys2178Arg)
c.6338A>G (p.Lys2113Arg)
n.7750A>G
 COSMIC COSMIC
5g.37165546T>GCA359476193CPLANE1c.7526A>C (p.Lys2509Thr)
n.646A>C
c.4538A>C (p.Lys1513Thr)
c.598A>C
c.4670A>C (p.Lys1557Thr)
c.7523A>C (p.Lys2508Thr)
c.7397A>C (p.Lys2466Thr)
c.4169A>C (p.Lys1390Thr)
c.2099A>C (p.Lys700Thr)
c.7208A>C (p.Lys2403Thr)
c.6854A>C (p.Lys2285Thr)
c.4751A>C (p.Lys1584Thr)
n.7701A>C
c.7337A>C (p.Lys2446Thr)
c.6533A>C (p.Lys2178Thr)
c.6338A>C (p.Lys2113Thr)
n.7750A>C
5g.37165547T>ACA359476195CPLANE1c.7525A>T (p.Lys2509Ter)
n.645A>T
c.4537A>T (p.Lys1513Ter)
c.597A>T
c.4669A>T (p.Lys1557Ter)
c.7522A>T (p.Lys2508Ter)
c.7396A>T (p.Lys2466Ter)
c.4168A>T (p.Lys1390Ter)
c.2098A>T (p.Lys700Ter)
c.7207A>T (p.Lys2403Ter)
c.6853A>T (p.Lys2285Ter)
c.4750A>T (p.Lys1584Ter)
n.7700A>T
c.7336A>T (p.Lys2446Ter)
c.6532A>T (p.Lys2178Ter)
c.6337A>T (p.Lys2113Ter)
n.7749A>T
5g.37165547T>CCA359476197CPLANE1c.7525A>G (p.Lys2509Glu)
n.645A>G
c.4537A>G (p.Lys1513Glu)
c.597A>G
c.4669A>G (p.Lys1557Glu)
c.7522A>G (p.Lys2508Glu)
c.7396A>G (p.Lys2466Glu)
c.4168A>G (p.Lys1390Glu)
c.2098A>G (p.Lys700Glu)
c.7207A>G (p.Lys2403Glu)
c.6853A>G (p.Lys2285Glu)
c.4750A>G (p.Lys1584Glu)
n.7700A>G
c.7336A>G (p.Lys2446Glu)
c.6532A>G (p.Lys2178Glu)
c.6337A>G (p.Lys2113Glu)
n.7749A>G
5g.37165547T>GCA359476196CPLANE1c.7525A>C (p.Lys2509Gln)
n.645A>C
c.4537A>C (p.Lys1513Gln)
c.597A>C
c.4669A>C (p.Lys1557Gln)
c.7522A>C (p.Lys2508Gln)
c.7396A>C (p.Lys2466Gln)
c.4168A>C (p.Lys1390Gln)
c.2098A>C (p.Lys700Gln)
c.7207A>C (p.Lys2403Gln)
c.6853A>C (p.Lys2285Gln)
c.4750A>C (p.Lys1584Gln)
n.7700A>C
c.7336A>C (p.Lys2446Gln)
c.6532A>C (p.Lys2178Gln)
c.6337A>C (p.Lys2113Gln)
n.7749A>C
5g.37165548C>ACA359476198CPLANE1c.7524G>T (p.Lys2508Asn)
n.644G>T
c.4536G>T (p.Lys1512Asn)
c.596G>T
c.4668G>T (p.Lys1556Asn)
c.7521G>T (p.Lys2507Asn)
c.7395G>T (p.Lys2465Asn)
c.4167G>T (p.Lys1389Asn)
c.2097G>T (p.Lys699Asn)
c.7206G>T (p.Lys2402Asn)
c.6852G>T (p.Lys2284Asn)
c.4749G>T (p.Lys1583Asn)
n.7699G>T
c.7335G>T (p.Lys2445Asn)
c.6531G>T (p.Lys2177Asn)
c.6336G>T (p.Lys2112Asn)
n.7748G>T
5g.37165548C=CA1539664166CPLANE1c.7524G= (p.Lys2508=)
n.644G=
c.4536G= (p.Lys1512=)
c.596G=
c.4668G= (p.Lys1556=)
c.7521G= (p.Lys2507=)
c.7395G= (p.Lys2465=)
c.4167G= (p.Lys1389=)
c.2097G= (p.Lys699=)
c.7206G= (p.Lys2402=)
c.6852G= (p.Lys2284=)
c.4749G= (p.Lys1583=)
n.7699G=
c.7335G= (p.Lys2445=)
c.6531G= (p.Lys2177=)
c.6336G= (p.Lys2112=)
n.7748G=
5g.37165548C>GCA359476199CPLANE1c.7524G>C (p.Lys2508Asn)
n.644G>C
c.4536G>C (p.Lys1512Asn)
c.596G>C
c.4668G>C (p.Lys1556Asn)
c.7521G>C (p.Lys2507Asn)
c.7395G>C (p.Lys2465Asn)
c.4167G>C (p.Lys1389Asn)
c.2097G>C (p.Lys699Asn)
c.7206G>C (p.Lys2402Asn)
c.6852G>C (p.Lys2284Asn)
c.4749G>C (p.Lys1583Asn)
n.7699G>C
c.7335G>C (p.Lys2445Asn)
c.6531G>C (p.Lys2177Asn)
c.6336G>C (p.Lys2112Asn)
n.7748G>C
5g.37165548C>TCA443920112CPLANE1c.7524G>A (p.Lys2508=)
n.644G>A
c.4536G>A (p.Lys1512=)
c.596G>A
c.4668G>A (p.Lys1556=)
c.7521G>A (p.Lys2507=)
c.7395G>A (p.Lys2465=)
c.4167G>A (p.Lys1389=)
c.2097G>A (p.Lys699=)
c.7206G>A (p.Lys2402=)
c.6852G>A (p.Lys2284=)
c.4749G>A (p.Lys1583=)
n.7699G>A
c.7335G>A (p.Lys2445=)
c.6531G>A (p.Lys2177=)
c.6336G>A (p.Lys2112=)
n.7748G>A
 dbSNP gnomAD v2 gnomAD v4
5g.37165549T>ACA359476200CPLANE1c.7523A>T (p.Lys2508Met)
n.643A>T
c.4535A>T (p.Lys1512Met)
c.595A>T
c.4667A>T (p.Lys1556Met)
c.7520A>T (p.Lys2507Met)
c.7394A>T (p.Lys2465Met)
c.4166A>T (p.Lys1389Met)
c.2096A>T (p.Lys699Met)
c.7205A>T (p.Lys2402Met)
c.6851A>T (p.Lys2284Met)
c.4748A>T (p.Lys1583Met)
n.7698A>T
c.7334A>T (p.Lys2445Met)
c.6530A>T (p.Lys2177Met)
c.6335A>T (p.Lys2112Met)
n.7747A>T
5g.37165549T>CCA359476202CPLANE1c.7523A>G (p.Lys2508Arg)
n.643A>G
c.4535A>G (p.Lys1512Arg)
c.595A>G
c.4667A>G (p.Lys1556Arg)
c.7520A>G (p.Lys2507Arg)
c.7394A>G (p.Lys2465Arg)
c.4166A>G (p.Lys1389Arg)
c.2096A>G (p.Lys699Arg)
c.7205A>G (p.Lys2402Arg)
c.6851A>G (p.Lys2284Arg)
c.4748A>G (p.Lys1583Arg)
n.7698A>G
c.7334A>G (p.Lys2445Arg)
c.6530A>G (p.Lys2177Arg)
c.6335A>G (p.Lys2112Arg)
n.7747A>G
5g.37165549T>GCA359476201CPLANE1c.7523A>C (p.Lys2508Thr)
n.643A>C
c.4535A>C (p.Lys1512Thr)
c.595A>C
c.4667A>C (p.Lys1556Thr)
c.7520A>C (p.Lys2507Thr)
c.7394A>C (p.Lys2465Thr)
c.4166A>C (p.Lys1389Thr)
c.2096A>C (p.Lys699Thr)
c.7205A>C (p.Lys2402Thr)
c.6851A>C (p.Lys2284Thr)
c.4748A>C (p.Lys1583Thr)
n.7698A>C
c.7334A>C (p.Lys2445Thr)
c.6530A>C (p.Lys2177Thr)
c.6335A>C (p.Lys2112Thr)
n.7747A>C
5g.37165550T>ACA359476203CPLANE1c.7522A>T (p.Lys2508Ter)
n.642A>T
c.4534A>T (p.Lys1512Ter)
c.594A>T
c.4666A>T (p.Lys1556Ter)
c.7519A>T (p.Lys2507Ter)
c.7393A>T (p.Lys2465Ter)
c.4165A>T (p.Lys1389Ter)
c.2095A>T (p.Lys699Ter)
c.7204A>T (p.Lys2402Ter)
c.6850A>T (p.Lys2284Ter)
c.4747A>T (p.Lys1583Ter)
n.7697A>T
c.7333A>T (p.Lys2445Ter)
c.6529A>T (p.Lys2177Ter)
c.6334A>T (p.Lys2112Ter)
n.7746A>T
5g.37165550T>CCA359476205CPLANE1c.7522A>G (p.Lys2508Glu)
n.642A>G
c.4534A>G (p.Lys1512Glu)
c.594A>G
c.4666A>G (p.Lys1556Glu)
c.7519A>G (p.Lys2507Glu)
c.7393A>G (p.Lys2465Glu)
c.4165A>G (p.Lys1389Glu)
c.2095A>G (p.Lys699Glu)
c.7204A>G (p.Lys2402Glu)
c.6850A>G (p.Lys2284Glu)
c.4747A>G (p.Lys1583Glu)
n.7697A>G
c.7333A>G (p.Lys2445Glu)
c.6529A>G (p.Lys2177Glu)
c.6334A>G (p.Lys2112Glu)
n.7746A>G
5g.37165550T>GCA359476204CPLANE1c.7522A>C (p.Lys2508Gln)
n.642A>C
c.4534A>C (p.Lys1512Gln)
c.594A>C
c.4666A>C (p.Lys1556Gln)
c.7519A>C (p.Lys2507Gln)
c.7393A>C (p.Lys2465Gln)
c.4165A>C (p.Lys1389Gln)
c.2095A>C (p.Lys699Gln)
c.7204A>C (p.Lys2402Gln)
c.6850A>C (p.Lys2284Gln)
c.4747A>C (p.Lys1583Gln)
n.7697A>C
c.7333A>C (p.Lys2445Gln)
c.6529A>C (p.Lys2177Gln)
c.6334A>C (p.Lys2112Gln)
n.7746A>C
5g.37165551A=CA1539664168CPLANE1c.7521T= (p.Ile2507=)
n.641T=
c.4533T= (p.Ile1511=)
c.593T=
c.4665T= (p.Ile1555=)
c.7518T= (p.Ile2506=)
c.7392T= (p.Ile2464=)
c.4164T= (p.Ile1388=)
c.2094T= (p.Ile698=)
c.7203T= (p.Ile2401=)
c.6849T= (p.Ile2283=)
c.4746T= (p.Ile1582=)
n.7696T=
c.7332T= (p.Ile2444=)
c.6528T= (p.Ile2176=)
c.6333T= (p.Ile2111=)
n.7745T=
5g.37165551A>CCA359476206CPLANE1c.7521T>G (p.Ile2507Met)
n.641T>G
c.4533T>G (p.Ile1511Met)
c.593T>G
c.4665T>G (p.Ile1555Met)
c.7518T>G (p.Ile2506Met)
c.7392T>G (p.Ile2464Met)
c.4164T>G (p.Ile1388Met)
c.2094T>G (p.Ile698Met)
c.7203T>G (p.Ile2401Met)
c.6849T>G (p.Ile2283Met)
c.4746T>G (p.Ile1582Met)
n.7696T>G
c.7332T>G (p.Ile2444Met)
c.6528T>G (p.Ile2176Met)
c.6333T>G (p.Ile2111Met)
n.7745T>G
5g.37165551A>GCA443920117CPLANE1c.7521T>C (p.Ile2507=)
n.641T>C
c.4533T>C (p.Ile1511=)
c.593T>C
c.4665T>C (p.Ile1555=)
c.7518T>C (p.Ile2506=)
c.7392T>C (p.Ile2464=)
c.4164T>C (p.Ile1388=)
c.2094T>C (p.Ile698=)
c.7203T>C (p.Ile2401=)
c.6849T>C (p.Ile2283=)
c.4746T>C (p.Ile1582=)
n.7696T>C
c.7332T>C (p.Ile2444=)
c.6528T>C (p.Ile2176=)
c.6333T>C (p.Ile2111=)
n.7745T>C
5g.37165551A>TCA443920118CPLANE1c.7521T>A (p.Ile2507=)
n.641T>A
c.4533T>A (p.Ile1511=)
c.593T>A
c.4665T>A (p.Ile1555=)
c.7518T>A (p.Ile2506=)
c.7392T>A (p.Ile2464=)
c.4164T>A (p.Ile1388=)
c.2094T>A (p.Ile698=)
c.7203T>A (p.Ile2401=)
c.6849T>A (p.Ile2283=)
c.4746T>A (p.Ile1582=)
n.7696T>A
c.7332T>A (p.Ile2444=)
c.6528T>A (p.Ile2176=)
c.6333T>A (p.Ile2111=)
n.7745T>A
 dbSNP gnomAD v4
5g.37165552A=CA1539664169CPLANE1c.7520T= (p.Ile2507=)
n.640T=
c.4532T= (p.Ile1511=)
c.592T=
c.4664T= (p.Ile1555=)
c.7517T= (p.Ile2506=)
c.7391T= (p.Ile2464=)
c.4163T= (p.Ile1388=)
c.2093T= (p.Ile698=)
c.7202T= (p.Ile2401=)
c.6848T= (p.Ile2283=)
c.4745T= (p.Ile1582=)
n.7695T=
c.7331T= (p.Ile2444=)
c.6527T= (p.Ile2176=)
c.6332T= (p.Ile2111=)
n.7744T=
5g.37165552A>CCA359476207CPLANE1c.7520T>G (p.Ile2507Ser)
n.640T>G
c.4532T>G (p.Ile1511Ser)
c.592T>G
c.4664T>G (p.Ile1555Ser)
c.7517T>G (p.Ile2506Ser)
c.7391T>G (p.Ile2464Ser)
c.4163T>G (p.Ile1388Ser)
c.2093T>G (p.Ile698Ser)
c.7202T>G (p.Ile2401Ser)
c.6848T>G (p.Ile2283Ser)
c.4745T>G (p.Ile1582Ser)
n.7695T>G
c.7331T>G (p.Ile2444Ser)
c.6527T>G (p.Ile2176Ser)
c.6332T>G (p.Ile2111Ser)
n.7744T>G
5g.37165552A>GCA117051675CPLANE1c.7520T>C (p.Ile2507Thr)
n.640T>C
c.4532T>C (p.Ile1511Thr)
c.592T>C
c.4664T>C (p.Ile1555Thr)
c.7517T>C (p.Ile2506Thr)
c.7391T>C (p.Ile2464Thr)
c.4163T>C (p.Ile1388Thr)
c.2093T>C (p.Ile698Thr)
c.7202T>C (p.Ile2401Thr)
c.6848T>C (p.Ile2283Thr)
c.4745T>C (p.Ile1582Thr)
n.7695T>C
c.7331T>C (p.Ile2444Thr)
c.6527T>C (p.Ile2176Thr)
c.6332T>C (p.Ile2111Thr)
n.7744T>C
 dbSNP gnomAD v2 gnomAD v4
5g.37165552A>TCA359476208CPLANE1c.7520T>A (p.Ile2507Asn)
n.640T>A
c.4532T>A (p.Ile1511Asn)
c.592T>A
c.4664T>A (p.Ile1555Asn)
c.7517T>A (p.Ile2506Asn)
c.7391T>A (p.Ile2464Asn)
c.4163T>A (p.Ile1388Asn)
c.2093T>A (p.Ile698Asn)
c.7202T>A (p.Ile2401Asn)
c.6848T>A (p.Ile2283Asn)
c.4745T>A (p.Ile1582Asn)
n.7695T>A
c.7331T>A (p.Ile2444Asn)
c.6527T>A (p.Ile2176Asn)
c.6332T>A (p.Ile2111Asn)
n.7744T>A
5g.37165553T>ACA359476209CPLANE1c.7519A>T (p.Ile2507Phe)
n.639A>T
c.4531A>T (p.Ile1511Phe)
c.591A>T
c.4663A>T (p.Ile1555Phe)
c.7516A>T (p.Ile2506Phe)
c.7390A>T (p.Ile2464Phe)
c.4162A>T (p.Ile1388Phe)
c.2092A>T (p.Ile698Phe)
c.7201A>T (p.Ile2401Phe)
c.6847A>T (p.Ile2283Phe)
c.4744A>T (p.Ile1582Phe)
n.7694A>T
c.7330A>T (p.Ile2444Phe)
c.6526A>T (p.Ile2176Phe)
c.6331A>T (p.Ile2111Phe)
n.7743A>T
5g.37165553T>CCA359476210CPLANE1c.7519A>G (p.Ile2507Val)
n.639A>G
c.4531A>G (p.Ile1511Val)
c.591A>G
c.4663A>G (p.Ile1555Val)
c.7516A>G (p.Ile2506Val)
c.7390A>G (p.Ile2464Val)
c.4162A>G (p.Ile1388Val)
c.2092A>G (p.Ile698Val)
c.7201A>G (p.Ile2401Val)
c.6847A>G (p.Ile2283Val)
c.4744A>G (p.Ile1582Val)
n.7694A>G
c.7330A>G (p.Ile2444Val)
c.6526A>G (p.Ile2176Val)
c.6331A>G (p.Ile2111Val)
n.7743A>G
5g.37165553T>GCA359476211CPLANE1c.7519A>C (p.Ile2507Leu)
n.639A>C
c.4531A>C (p.Ile1511Leu)
c.591A>C
c.4663A>C (p.Ile1555Leu)
c.7516A>C (p.Ile2506Leu)
c.7390A>C (p.Ile2464Leu)
c.4162A>C (p.Ile1388Leu)
c.2092A>C (p.Ile698Leu)
c.7201A>C (p.Ile2401Leu)
c.6847A>C (p.Ile2283Leu)
c.4744A>C (p.Ile1582Leu)
n.7694A>C
c.7330A>C (p.Ile2444Leu)
c.6526A>C (p.Ile2176Leu)
c.6331A>C (p.Ile2111Leu)
n.7743A>C
5g.37165554G>ACA443920123CPLANE1c.7518C>T (p.Ile2506=)
n.638C>T
c.4530C>T (p.Ile1510=)
c.590C>T
c.4662C>T (p.Ile1554=)
c.7515C>T (p.Ile2505=)
c.7389C>T (p.Ile2463=)
c.4161C>T (p.Ile1387=)
c.2091C>T (p.Ile697=)
c.7200C>T (p.Ile2400=)
c.6846C>T (p.Ile2282=)
c.4743C>T (p.Ile1581=)
n.7693C>T
c.7329C>T (p.Ile2443=)
c.6525C>T (p.Ile2175=)
c.6330C>T (p.Ile2110=)
n.7742C>T
 dbSNP
5g.37165554G>CCA359476212CPLANE1c.7518C>G (p.Ile2506Met)
n.638C>G
c.4530C>G (p.Ile1510Met)
c.590C>G
c.4662C>G (p.Ile1554Met)
c.7515C>G (p.Ile2505Met)
c.7389C>G (p.Ile2463Met)
c.4161C>G (p.Ile1387Met)
c.2091C>G (p.Ile697Met)
c.7200C>G (p.Ile2400Met)
c.6846C>G (p.Ile2282Met)
c.4743C>G (p.Ile1581Met)
n.7693C>G
c.7329C>G (p.Ile2443Met)
c.6525C>G (p.Ile2175Met)
c.6330C>G (p.Ile2110Met)
n.7742C>G
5g.37165554G=CA1539664173CPLANE1c.7518C= (p.Ile2506=)
n.638C=
c.4530C= (p.Ile1510=)
c.590C=
c.4662C= (p.Ile1554=)
c.7515C= (p.Ile2505=)
c.7389C= (p.Ile2463=)
c.4161C= (p.Ile1387=)
c.2091C= (p.Ile697=)
c.7200C= (p.Ile2400=)
c.6846C= (p.Ile2282=)
c.4743C= (p.Ile1581=)
n.7693C=
c.7329C= (p.Ile2443=)
c.6525C= (p.Ile2175=)
c.6330C= (p.Ile2110=)
n.7742C=
5g.37165554G>TCA3238049CPLANE1c.7518C>A (p.Ile2506=)
n.638C>A
c.4530C>A (p.Ile1510=)
c.590C>A
c.4662C>A (p.Ile1554=)
c.7515C>A (p.Ile2505=)
c.7389C>A (p.Ile2463=)
c.4161C>A (p.Ile1387=)
c.2091C>A (p.Ile697=)
c.7200C>A (p.Ile2400=)
c.6846C>A (p.Ile2282=)
c.4743C>A (p.Ile1581=)
n.7693C>A
c.7329C>A (p.Ile2443=)
c.6525C>A (p.Ile2175=)
c.6330C>A (p.Ile2110=)
n.7742C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.37165555A=CA1539664177CPLANE1c.7517T= (p.Ile2506=)
n.637T=
c.4529T= (p.Ile1510=)
c.589T=
c.4661T= (p.Ile1554=)
c.7514T= (p.Ile2505=)
c.7388T= (p.Ile2463=)
c.4160T= (p.Ile1387=)
c.2090T= (p.Ile697=)
c.7199T= (p.Ile2400=)
c.6845T= (p.Ile2282=)
c.4742T= (p.Ile1581=)
n.7692T=
c.7328T= (p.Ile2443=)
c.6524T= (p.Ile2175=)
c.6329T= (p.Ile2110=)
n.7741T=
5g.37165555A>CCA359476215CPLANE1c.7517T>G (p.Ile2506Ser)
n.637T>G
c.4529T>G (p.Ile1510Ser)
c.589T>G
c.4661T>G (p.Ile1554Ser)
c.7514T>G (p.Ile2505Ser)
c.7388T>G (p.Ile2463Ser)
c.4160T>G (p.Ile1387Ser)
c.2090T>G (p.Ile697Ser)
c.7199T>G (p.Ile2400Ser)
c.6845T>G (p.Ile2282Ser)
c.4742T>G (p.Ile1581Ser)
n.7692T>G
c.7328T>G (p.Ile2443Ser)
c.6524T>G (p.Ile2175Ser)
c.6329T>G (p.Ile2110Ser)
n.7741T>G
 gnomAD v4
5g.37165555A>GCA359476214CPLANE1c.7517T>C (p.Ile2506Thr)
n.637T>C
c.4529T>C (p.Ile1510Thr)
c.589T>C
c.4661T>C (p.Ile1554Thr)
c.7514T>C (p.Ile2505Thr)
c.7388T>C (p.Ile2463Thr)
c.4160T>C (p.Ile1387Thr)
c.2090T>C (p.Ile697Thr)
c.7199T>C (p.Ile2400Thr)
c.6845T>C (p.Ile2282Thr)
c.4742T>C (p.Ile1581Thr)
n.7692T>C
c.7328T>C (p.Ile2443Thr)
c.6524T>C (p.Ile2175Thr)
c.6329T>C (p.Ile2110Thr)
n.7741T>C
 dbSNP
5g.37165555A>TCA359476213CPLANE1c.7517T>A (p.Ile2506Asn)
n.637T>A
c.4529T>A (p.Ile1510Asn)
c.589T>A
c.4661T>A (p.Ile1554Asn)
c.7514T>A (p.Ile2505Asn)
c.7388T>A (p.Ile2463Asn)
c.4160T>A (p.Ile1387Asn)
c.2090T>A (p.Ile697Asn)
c.7199T>A (p.Ile2400Asn)
c.6845T>A (p.Ile2282Asn)
c.4742T>A (p.Ile1581Asn)
n.7692T>A
c.7328T>A (p.Ile2443Asn)
c.6524T>A (p.Ile2175Asn)
c.6329T>A (p.Ile2110Asn)
n.7741T>A
5g.37165556T>ACA359476217CPLANE1c.7516A>T (p.Ile2506Phe)
n.636A>T
c.4528A>T (p.Ile1510Phe)
c.588A>T
c.4660A>T (p.Ile1554Phe)
c.7513A>T (p.Ile2505Phe)
c.7387A>T (p.Ile2463Phe)
c.4159A>T (p.Ile1387Phe)
c.2089A>T (p.Ile697Phe)
c.7198A>T (p.Ile2400Phe)
c.6844A>T (p.Ile2282Phe)
c.4741A>T (p.Ile1581Phe)
n.7691A>T
c.7327A>T (p.Ile2443Phe)
c.6523A>T (p.Ile2175Phe)
c.6328A>T (p.Ile2110Phe)
n.7740A>T
5g.37165556T>CCA359476218CPLANE1c.7516A>G (p.Ile2506Val)
n.636A>G
c.4528A>G (p.Ile1510Val)
c.588A>G
c.4660A>G (p.Ile1554Val)
c.7513A>G (p.Ile2505Val)
c.7387A>G (p.Ile2463Val)
c.4159A>G (p.Ile1387Val)
c.2089A>G (p.Ile697Val)
c.7198A>G (p.Ile2400Val)
c.6844A>G (p.Ile2282Val)
c.4741A>G (p.Ile1581Val)
n.7691A>G
c.7327A>G (p.Ile2443Val)
c.6523A>G (p.Ile2175Val)
c.6328A>G (p.Ile2110Val)
n.7740A>G
 gnomAD v4
5g.37165556T>GCA359476219CPLANE1c.7516A>C (p.Ile2506Leu)
n.636A>C
c.4528A>C (p.Ile1510Leu)
c.588A>C
c.4660A>C (p.Ile1554Leu)
c.7513A>C (p.Ile2505Leu)
c.7387A>C (p.Ile2463Leu)
c.4159A>C (p.Ile1387Leu)
c.2089A>C (p.Ile697Leu)
c.7198A>C (p.Ile2400Leu)
c.6844A>C (p.Ile2282Leu)
c.4741A>C (p.Ile1581Leu)
n.7691A>C
c.7327A>C (p.Ile2443Leu)
c.6523A>C (p.Ile2175Leu)
c.6328A>C (p.Ile2110Leu)
n.7740A>C
5g.37165557T>ACA359476220CPLANE1c.7515A>T (p.Glu2505Asp)
n.635A>T
c.4527A>T (p.Glu1509Asp)
c.587A>T
c.4659A>T (p.Glu1553Asp)
c.7512A>T (p.Glu2504Asp)
c.7386A>T (p.Glu2462Asp)
c.4158A>T (p.Glu1386Asp)
c.2088A>T (p.Glu696Asp)
c.7197A>T (p.Glu2399Asp)
c.6843A>T (p.Glu2281Asp)
c.4740A>T (p.Glu1580Asp)
n.7690A>T
c.7326A>T (p.Glu2442Asp)
c.6522A>T (p.Glu2174Asp)
c.6327A>T (p.Glu2109Asp)
n.7739A>T
5g.37165557T>CCA443920127CPLANE1c.7515A>G (p.Glu2505=)
n.635A>G
c.4527A>G (p.Glu1509=)
c.587A>G
c.4659A>G (p.Glu1553=)
c.7512A>G (p.Glu2504=)
c.7386A>G (p.Glu2462=)
c.4158A>G (p.Glu1386=)
c.2088A>G (p.Glu696=)
c.7197A>G (p.Glu2399=)
c.6843A>G (p.Glu2281=)
c.4740A>G (p.Glu1580=)
n.7690A>G
c.7326A>G (p.Glu2442=)
c.6522A>G (p.Glu2174=)
c.6327A>G (p.Glu2109=)
n.7739A>G
5g.37165557T>GCA359476221CPLANE1c.7515A>C (p.Glu2505Asp)
n.635A>C
c.4527A>C (p.Glu1509Asp)
c.587A>C
c.4659A>C (p.Glu1553Asp)
c.7512A>C (p.Glu2504Asp)
c.7386A>C (p.Glu2462Asp)
c.4158A>C (p.Glu1386Asp)
c.2088A>C (p.Glu696Asp)
c.7197A>C (p.Glu2399Asp)
c.6843A>C (p.Glu2281Asp)
c.4740A>C (p.Glu1580Asp)
n.7690A>C
c.7326A>C (p.Glu2442Asp)
c.6522A>C (p.Glu2174Asp)
c.6327A>C (p.Glu2109Asp)
n.7739A>C
5g.37165558T>ACA359476222CPLANE1c.7514A>T (p.Glu2505Val)
n.634A>T
c.4526A>T (p.Glu1509Val)
c.586A>T
c.4658A>T (p.Glu1553Val)
c.7511A>T (p.Glu2504Val)
c.7385A>T (p.Glu2462Val)
c.4157A>T (p.Glu1386Val)
c.2087A>T (p.Glu696Val)
c.7196A>T (p.Glu2399Val)
c.6842A>T (p.Glu2281Val)
c.4739A>T (p.Glu1580Val)
n.7689A>T
c.7325A>T (p.Glu2442Val)
c.6521A>T (p.Glu2174Val)
c.6326A>T (p.Glu2109Val)
n.7738A>T
5g.37165558T>CCA359476223CPLANE1c.7514A>G (p.Glu2505Gly)
n.634A>G
c.4526A>G (p.Glu1509Gly)
c.586A>G
c.4658A>G (p.Glu1553Gly)
c.7511A>G (p.Glu2504Gly)
c.7385A>G (p.Glu2462Gly)
c.4157A>G (p.Glu1386Gly)
c.2087A>G (p.Glu696Gly)
c.7196A>G (p.Glu2399Gly)
c.6842A>G (p.Glu2281Gly)
c.4739A>G (p.Glu1580Gly)
n.7689A>G
c.7325A>G (p.Glu2442Gly)
c.6521A>G (p.Glu2174Gly)
c.6326A>G (p.Glu2109Gly)
n.7738A>G
5g.37165558T>GCA359476225CPLANE1c.7514A>C (p.Glu2505Ala)
n.634A>C
c.4526A>C (p.Glu1509Ala)
c.586A>C
c.4658A>C (p.Glu1553Ala)
c.7511A>C (p.Glu2504Ala)
c.7385A>C (p.Glu2462Ala)
c.4157A>C (p.Glu1386Ala)
c.2087A>C (p.Glu696Ala)
c.7196A>C (p.Glu2399Ala)
c.6842A>C (p.Glu2281Ala)
c.4739A>C (p.Glu1580Ala)
n.7689A>C
c.7325A>C (p.Glu2442Ala)
c.6521A>C (p.Glu2174Ala)
c.6326A>C (p.Glu2109Ala)
n.7738A>C
5g.37165559C>ACA359476227CPLANE1c.7513G>T (p.Glu2505Ter)
n.633G>T
c.4525G>T (p.Glu1509Ter)
c.585G>T
c.4657G>T (p.Glu1553Ter)
c.7510G>T (p.Glu2504Ter)
c.7384G>T (p.Glu2462Ter)
c.4156G>T (p.Glu1386Ter)
c.2086G>T (p.Glu696Ter)
c.7195G>T (p.Glu2399Ter)
c.6841G>T (p.Glu2281Ter)
c.4738G>T (p.Glu1580Ter)
n.7688G>T
c.7324G>T (p.Glu2442Ter)
c.6520G>T (p.Glu2174Ter)
c.6325G>T (p.Glu2109Ter)
n.7737G>T
5g.37165559C>GCA359476229CPLANE1c.7513G>C (p.Glu2505Gln)
n.633G>C
c.4525G>C (p.Glu1509Gln)
c.585G>C
c.4657G>C (p.Glu1553Gln)
c.7510G>C (p.Glu2504Gln)
c.7384G>C (p.Glu2462Gln)
c.4156G>C (p.Glu1386Gln)
c.2086G>C (p.Glu696Gln)
c.7195G>C (p.Glu2399Gln)
c.6841G>C (p.Glu2281Gln)
c.4738G>C (p.Glu1580Gln)
n.7688G>C
c.7324G>C (p.Glu2442Gln)
c.6520G>C (p.Glu2174Gln)
c.6325G>C (p.Glu2109Gln)
n.7737G>C
5g.37165559C>TCA359476230CPLANE1c.7513G>A (p.Glu2505Lys)
n.633G>A
c.4525G>A (p.Glu1509Lys)
c.585G>A
c.4657G>A (p.Glu1553Lys)
c.7510G>A (p.Glu2504Lys)
c.7384G>A (p.Glu2462Lys)
c.4156G>A (p.Glu1386Lys)
c.2086G>A (p.Glu696Lys)
c.7195G>A (p.Glu2399Lys)
c.6841G>A (p.Glu2281Lys)
c.4738G>A (p.Glu1580Lys)
n.7688G>A
c.7324G>A (p.Glu2442Lys)
c.6520G>A (p.Glu2174Lys)
c.6325G>A (p.Glu2109Lys)
n.7737G>A
5g.37165560T>ACA443920135CPLANE1c.7512A>T (p.Ser2504=)
n.632A>T
c.4524A>T (p.Ser1508=)
c.584A>T
c.4656A>T (p.Ser1552=)
c.7509A>T (p.Ser2503=)
c.7383A>T (p.Ser2461=)
c.4155A>T (p.Ser1385=)
c.2085A>T (p.Ser695=)
c.7194A>T (p.Ser2398=)
c.6840A>T (p.Ser2280=)
c.4737A>T (p.Ser1579=)
n.7687A>T
c.7323A>T (p.Ser2441=)
c.6519A>T (p.Ser2173=)
c.6324A>T (p.Ser2108=)
n.7736A>T
5g.37165560T>CCA443920137CPLANE1c.7512A>G (p.Ser2504=)
n.632A>G
c.4524A>G (p.Ser1508=)
c.584A>G
c.4656A>G (p.Ser1552=)
c.7509A>G (p.Ser2503=)
c.7383A>G (p.Ser2461=)
c.4155A>G (p.Ser1385=)
c.2085A>G (p.Ser695=)
c.7194A>G (p.Ser2398=)
c.6840A>G (p.Ser2280=)
c.4737A>G (p.Ser1579=)
n.7687A>G
c.7323A>G (p.Ser2441=)
c.6519A>G (p.Ser2173=)
c.6324A>G (p.Ser2108=)
n.7736A>G
 gnomAD v4
5g.37165560T>GCA443920139CPLANE1c.7512A>C (p.Ser2504=)
n.632A>C
c.4524A>C (p.Ser1508=)
c.584A>C
c.4656A>C (p.Ser1552=)
c.7509A>C (p.Ser2503=)
c.7383A>C (p.Ser2461=)
c.4155A>C (p.Ser1385=)
c.2085A>C (p.Ser695=)
c.7194A>C (p.Ser2398=)
c.6840A>C (p.Ser2280=)
c.4737A>C (p.Ser1579=)
n.7687A>C
c.7323A>C (p.Ser2441=)
c.6519A>C (p.Ser2173=)
c.6324A>C (p.Ser2108=)
n.7736A>C
 gnomAD v4
5g.37165561G>ACA359476234CPLANE1c.7511C>T (p.Ser2504Leu)
n.631C>T
c.4523C>T (p.Ser1508Leu)
c.583C>T
c.4655C>T (p.Ser1552Leu)
c.7508C>T (p.Ser2503Leu)
c.7382C>T (p.Ser2461Leu)
c.4154C>T (p.Ser1385Leu)
c.2084C>T (p.Ser695Leu)
c.7193C>T (p.Ser2398Leu)
c.6839C>T (p.Ser2280Leu)
c.4736C>T (p.Ser1579Leu)
n.7686C>T
c.7322C>T (p.Ser2441Leu)
c.6518C>T (p.Ser2173Leu)
c.6323C>T (p.Ser2108Leu)
n.7735C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37165561G>CCA359476236CPLANE1c.7511C>G (p.Ser2504Ter)
n.631C>G
c.4523C>G (p.Ser1508Ter)
c.583C>G
c.4655C>G (p.Ser1552Ter)
c.7508C>G (p.Ser2503Ter)
c.7382C>G (p.Ser2461Ter)
c.4154C>G (p.Ser1385Ter)
c.2084C>G (p.Ser695Ter)
c.7193C>G (p.Ser2398Ter)
c.6839C>G (p.Ser2280Ter)
c.4736C>G (p.Ser1579Ter)
n.7686C>G
c.7322C>G (p.Ser2441Ter)
c.6518C>G (p.Ser2173Ter)
c.6323C>G (p.Ser2108Ter)
n.7735C>G
5g.37165561G=CA1539664181CPLANE1c.7511C= (p.Ser2504=)
n.631C=
c.4523C= (p.Ser1508=)
c.583C=
c.4655C= (p.Ser1552=)
c.7508C= (p.Ser2503=)
c.7382C= (p.Ser2461=)
c.4154C= (p.Ser1385=)
c.2084C= (p.Ser695=)
c.7193C= (p.Ser2398=)
c.6839C= (p.Ser2280=)
c.4736C= (p.Ser1579=)
n.7686C=
c.7322C= (p.Ser2441=)
c.6518C= (p.Ser2173=)
c.6323C= (p.Ser2108=)
n.7735C=
5g.37165561G>TCA359476232CPLANE1c.7511C>A (p.Ser2504Ter)
n.631C>A
c.4523C>A (p.Ser1508Ter)
c.583C>A
c.4655C>A (p.Ser1552Ter)
c.7508C>A (p.Ser2503Ter)
c.7382C>A (p.Ser2461Ter)
c.4154C>A (p.Ser1385Ter)
c.2084C>A (p.Ser695Ter)
c.7193C>A (p.Ser2398Ter)
c.6839C>A (p.Ser2280Ter)
c.4736C>A (p.Ser1579Ter)
n.7686C>A
c.7322C>A (p.Ser2441Ter)
c.6518C>A (p.Ser2173Ter)
c.6323C>A (p.Ser2108Ter)
n.7735C>A
5g.37165562A>CCA359476238CPLANE1c.7510T>G (p.Ser2504Ala)
n.630T>G
c.4522T>G (p.Ser1508Ala)
c.582T>G
c.4654T>G (p.Ser1552Ala)
c.7507T>G (p.Ser2503Ala)
c.7381T>G (p.Ser2461Ala)
c.4153T>G (p.Ser1385Ala)
c.2083T>G (p.Ser695Ala)
c.7192T>G (p.Ser2398Ala)
c.6838T>G (p.Ser2280Ala)
c.4735T>G (p.Ser1579Ala)
n.7685T>G
c.7321T>G (p.Ser2441Ala)
c.6517T>G (p.Ser2173Ala)
c.6322T>G (p.Ser2108Ala)
n.7734T>G
5g.37165562A>GCA359476239CPLANE1c.7510T>C (p.Ser2504Pro)
n.630T>C
c.4522T>C (p.Ser1508Pro)
c.582T>C
c.4654T>C (p.Ser1552Pro)
c.7507T>C (p.Ser2503Pro)
c.7381T>C (p.Ser2461Pro)
c.4153T>C (p.Ser1385Pro)
c.2083T>C (p.Ser695Pro)
c.7192T>C (p.Ser2398Pro)
c.6838T>C (p.Ser2280Pro)
c.4735T>C (p.Ser1579Pro)
n.7685T>C
c.7321T>C (p.Ser2441Pro)
c.6517T>C (p.Ser2173Pro)
c.6322T>C (p.Ser2108Pro)
n.7734T>C
5g.37165562A>TCA359476241CPLANE1c.7510T>A (p.Ser2504Thr)
n.630T>A
c.4522T>A (p.Ser1508Thr)
c.582T>A
c.4654T>A (p.Ser1552Thr)
c.7507T>A (p.Ser2503Thr)
c.7381T>A (p.Ser2461Thr)
c.4153T>A (p.Ser1385Thr)
c.2083T>A (p.Ser695Thr)
c.7192T>A (p.Ser2398Thr)
c.6838T>A (p.Ser2280Thr)
c.4735T>A (p.Ser1579Thr)
n.7685T>A
c.7321T>A (p.Ser2441Thr)
c.6517T>A (p.Ser2173Thr)
c.6322T>A (p.Ser2108Thr)
n.7734T>A
5g.37165563_37165566dupCA2578290830CPLANE1c.7507_7510dup (p.Ser2504Ter)
n.627_630dup
c.4519_4522dup (p.Ser1508Ter)
c.579_582dup
c.4651_4654dup (p.Ser1552Ter)
c.7504_7507dup (p.Ser2503Ter)
c.7378_7381dup (p.Ser2461Ter)
c.4150_4153dup (p.Ser1385Ter)
c.2080_2083dup (p.Ser695Ter)
c.7189_7192dup (p.Ser2398Ter)
c.6835_6838dup (p.Ser2280Ter)
c.4732_4735dup (p.Ser1579Ter)
n.7682_7685dup
c.7318_7321dup (p.Ser2441Ter)
c.6514_6517dup (p.Ser2173Ter)
c.6319_6322dup (p.Ser2108Ter)
n.7731_7734dup
5g.37165563A>CCA359476242CPLANE1c.7509T>G (p.Asp2503Glu)
n.629T>G
c.4521T>G (p.Asp1507Glu)
c.581T>G
c.4653T>G (p.Asp1551Glu)
c.7506T>G (p.Asp2502Glu)
c.7380T>G (p.Asp2460Glu)
c.4152T>G (p.Asp1384Glu)
c.2082T>G (p.Asp694Glu)
c.7191T>G (p.Asp2397Glu)
c.6837T>G (p.Asp2279Glu)
c.4734T>G (p.Asp1578Glu)
n.7684T>G
c.7320T>G (p.Asp2440Glu)
c.6516T>G (p.Asp2172Glu)
c.6321T>G (p.Asp2107Glu)
n.7733T>G
5g.37165563A>GCA443920143CPLANE1c.7509T>C (p.Asp2503=)
n.629T>C
c.4521T>C (p.Asp1507=)
c.581T>C
c.4653T>C (p.Asp1551=)
c.7506T>C (p.Asp2502=)
c.7380T>C (p.Asp2460=)
c.4152T>C (p.Asp1384=)
c.2082T>C (p.Asp694=)
c.7191T>C (p.Asp2397=)
c.6837T>C (p.Asp2279=)
c.4734T>C (p.Asp1578=)
n.7684T>C
c.7320T>C (p.Asp2440=)
c.6516T>C (p.Asp2172=)
c.6321T>C (p.Asp2107=)
n.7733T>C
5g.37165563A>TCA359476243CPLANE1c.7509T>A (p.Asp2503Glu)
n.629T>A
c.4521T>A (p.Asp1507Glu)
c.581T>A
c.4653T>A (p.Asp1551Glu)
c.7506T>A (p.Asp2502Glu)
c.7380T>A (p.Asp2460Glu)
c.4152T>A (p.Asp1384Glu)
c.2082T>A (p.Asp694Glu)
c.7191T>A (p.Asp2397Glu)
c.6837T>A (p.Asp2279Glu)
c.4734T>A (p.Asp1578Glu)
n.7684T>A
c.7320T>A (p.Asp2440Glu)
c.6516T>A (p.Asp2172Glu)
c.6321T>A (p.Asp2107Glu)
n.7733T>A
5g.37165564T>ACA359476247CPLANE1c.7508A>T (p.Asp2503Val)
n.628A>T
c.4520A>T (p.Asp1507Val)
c.580A>T
c.4652A>T (p.Asp1551Val)
c.7505A>T (p.Asp2502Val)
c.7379A>T (p.Asp2460Val)
c.4151A>T (p.Asp1384Val)
c.2081A>T (p.Asp694Val)
c.7190A>T (p.Asp2397Val)
c.6836A>T (p.Asp2279Val)
c.4733A>T (p.Asp1578Val)
n.7683A>T
c.7319A>T (p.Asp2440Val)
c.6515A>T (p.Asp2172Val)
c.6320A>T (p.Asp2107Val)
n.7732A>T
 gnomAD v4
5g.37165564T>CCA359476244CPLANE1c.7508A>G (p.Asp2503Gly)
n.628A>G
c.4520A>G (p.Asp1507Gly)
c.580A>G
c.4652A>G (p.Asp1551Gly)
c.7505A>G (p.Asp2502Gly)
c.7379A>G (p.Asp2460Gly)
c.4151A>G (p.Asp1384Gly)
c.2081A>G (p.Asp694Gly)
c.7190A>G (p.Asp2397Gly)
c.6836A>G (p.Asp2279Gly)
c.4733A>G (p.Asp1578Gly)
n.7683A>G
c.7319A>G (p.Asp2440Gly)
c.6515A>G (p.Asp2172Gly)
c.6320A>G (p.Asp2107Gly)
n.7732A>G
5g.37165564T>GCA359476246CPLANE1c.7508A>C (p.Asp2503Ala)
n.628A>C
c.4520A>C (p.Asp1507Ala)
c.580A>C
c.4652A>C (p.Asp1551Ala)
c.7505A>C (p.Asp2502Ala)
c.7379A>C (p.Asp2460Ala)
c.4151A>C (p.Asp1384Ala)
c.2081A>C (p.Asp694Ala)
c.7190A>C (p.Asp2397Ala)
c.6836A>C (p.Asp2279Ala)
c.4733A>C (p.Asp1578Ala)
n.7683A>C
c.7319A>C (p.Asp2440Ala)
c.6515A>C (p.Asp2172Ala)
c.6320A>C (p.Asp2107Ala)
n.7732A>C
5g.37165565C>ACA359476248CPLANE1c.7507G>T (p.Asp2503Tyr)
n.627G>T
c.4519G>T (p.Asp1507Tyr)
c.579G>T
c.4651G>T (p.Asp1551Tyr)
c.7504G>T (p.Asp2502Tyr)
c.7378G>T (p.Asp2460Tyr)
c.4150G>T (p.Asp1384Tyr)
c.2080G>T (p.Asp694Tyr)
c.7189G>T (p.Asp2397Tyr)
c.6835G>T (p.Asp2279Tyr)
c.4732G>T (p.Asp1578Tyr)
n.7682G>T
c.7318G>T (p.Asp2440Tyr)
c.6514G>T (p.Asp2172Tyr)
c.6319G>T (p.Asp2107Tyr)
n.7731G>T
 dbSNP gnomAD v3 gnomAD v4
5g.37165565C=CA1539664185CPLANE1c.7507G= (p.Asp2503=)
n.627G=
c.4519G= (p.Asp1507=)
c.579G=
c.4651G= (p.Asp1551=)
c.7504G= (p.Asp2502=)
c.7378G= (p.Asp2460=)
c.4150G= (p.Asp1384=)
c.2080G= (p.Asp694=)
c.7189G= (p.Asp2397=)
c.6835G= (p.Asp2279=)
c.4732G= (p.Asp1578=)
n.7682G=
c.7318G= (p.Asp2440=)
c.6514G= (p.Asp2172=)
c.6319G= (p.Asp2107=)
n.7731G=
5g.37165565C>GCA359476249CPLANE1c.7507G>C (p.Asp2503His)
n.627G>C
c.4519G>C (p.Asp1507His)
c.579G>C
c.4651G>C (p.Asp1551His)
c.7504G>C (p.Asp2502His)
c.7378G>C (p.Asp2460His)
c.4150G>C (p.Asp1384His)
c.2080G>C (p.Asp694His)
c.7189G>C (p.Asp2397His)
c.6835G>C (p.Asp2279His)
c.4732G>C (p.Asp1578His)
n.7682G>C
c.7318G>C (p.Asp2440His)
c.6514G>C (p.Asp2172His)
c.6319G>C (p.Asp2107His)
n.7731G>C
5g.37165565C>TCA3238050CPLANE1c.7507G>A (p.Asp2503Asn)
n.627G>A
c.4519G>A (p.Asp1507Asn)
c.579G>A
c.4651G>A (p.Asp1551Asn)
c.7504G>A (p.Asp2502Asn)
c.7378G>A (p.Asp2460Asn)
c.4150G>A (p.Asp1384Asn)
c.2080G>A (p.Asp694Asn)
c.7189G>A (p.Asp2397Asn)
c.6835G>A (p.Asp2279Asn)
c.4732G>A (p.Asp1578Asn)
n.7682G>A
c.7318G>A (p.Asp2440Asn)
c.6514G>A (p.Asp2172Asn)
c.6319G>A (p.Asp2107Asn)
n.7731G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.37165566A=CA1539664187CPLANE1c.7506T= (p.Asp2502=)
n.626T=
c.4518T= (p.Asp1506=)
c.578T=
c.4650T= (p.Asp1550=)
c.7503T= (p.Asp2501=)
c.7377T= (p.Asp2459=)
c.4149T= (p.Asp1383=)
c.2079T= (p.Asp693=)
c.7188T= (p.Asp2396=)
c.6834T= (p.Asp2278=)
c.4731T= (p.Asp1577=)
n.7681T=
c.7317T= (p.Asp2439=)
c.6513T= (p.Asp2171=)
c.6318T= (p.Asp2106=)
n.7730T=
5g.37165566A>CCA359476251CPLANE1c.7506T>G (p.Asp2502Glu)
n.626T>G
c.4518T>G (p.Asp1506Glu)
c.578T>G
c.4650T>G (p.Asp1550Glu)
c.7503T>G (p.Asp2501Glu)
c.7377T>G (p.Asp2459Glu)
c.4149T>G (p.Asp1383Glu)
c.2079T>G (p.Asp693Glu)
c.7188T>G (p.Asp2396Glu)
c.6834T>G (p.Asp2278Glu)
c.4731T>G (p.Asp1577Glu)
n.7681T>G
c.7317T>G (p.Asp2439Glu)
c.6513T>G (p.Asp2171Glu)
c.6318T>G (p.Asp2106Glu)
n.7730T>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37165566A>GCA443920151CPLANE1c.7506T>C (p.Asp2502=)
n.626T>C
c.4518T>C (p.Asp1506=)
c.578T>C
c.4650T>C (p.Asp1550=)
c.7503T>C (p.Asp2501=)
c.7377T>C (p.Asp2459=)
c.4149T>C (p.Asp1383=)
c.2079T>C (p.Asp693=)
c.7188T>C (p.Asp2396=)
c.6834T>C (p.Asp2278=)
c.4731T>C (p.Asp1577=)
n.7681T>C
c.7317T>C (p.Asp2439=)
c.6513T>C (p.Asp2171=)
c.6318T>C (p.Asp2106=)
n.7730T>C
5g.37165566A>TCA359476253CPLANE1c.7506T>A (p.Asp2502Glu)
n.626T>A
c.4518T>A (p.Asp1506Glu)
c.578T>A
c.4650T>A (p.Asp1550Glu)
c.7503T>A (p.Asp2501Glu)
c.7377T>A (p.Asp2459Glu)
c.4149T>A (p.Asp1383Glu)
c.2079T>A (p.Asp693Glu)
c.7188T>A (p.Asp2396Glu)
c.6834T>A (p.Asp2278Glu)
c.4731T>A (p.Asp1577Glu)
n.7681T>A
c.7317T>A (p.Asp2439Glu)
c.6513T>A (p.Asp2171Glu)
c.6318T>A (p.Asp2106Glu)
n.7730T>A
5g.37165567T>ACA359476254CPLANE1c.7505A>T (p.Asp2502Val)
n.625A>T
c.4517A>T (p.Asp1506Val)
c.577A>T
c.4649A>T (p.Asp1550Val)
c.7502A>T (p.Asp2501Val)
c.7376A>T (p.Asp2459Val)
c.4148A>T (p.Asp1383Val)
c.2078A>T (p.Asp693Val)
c.7187A>T (p.Asp2396Val)
c.6833A>T (p.Asp2278Val)
c.4730A>T (p.Asp1577Val)
n.7680A>T
c.7316A>T (p.Asp2439Val)
c.6512A>T (p.Asp2171Val)
c.6317A>T (p.Asp2106Val)
n.7729A>T
5g.37165567T>CCA359476256CPLANE1c.7505A>G (p.Asp2502Gly)
n.625A>G
c.4517A>G (p.Asp1506Gly)
c.577A>G
c.4649A>G (p.Asp1550Gly)
c.7502A>G (p.Asp2501Gly)
c.7376A>G (p.Asp2459Gly)
c.4148A>G (p.Asp1383Gly)
c.2078A>G (p.Asp693Gly)
c.7187A>G (p.Asp2396Gly)
c.6833A>G (p.Asp2278Gly)
c.4730A>G (p.Asp1577Gly)
n.7680A>G
c.7316A>G (p.Asp2439Gly)
c.6512A>G (p.Asp2171Gly)
c.6317A>G (p.Asp2106Gly)
n.7729A>G
5g.37165567T>GCA359476255CPLANE1c.7505A>C (p.Asp2502Ala)
n.625A>C
c.4517A>C (p.Asp1506Ala)
c.577A>C
c.4649A>C (p.Asp1550Ala)
c.7502A>C (p.Asp2501Ala)
c.7376A>C (p.Asp2459Ala)
c.4148A>C (p.Asp1383Ala)
c.2078A>C (p.Asp693Ala)
c.7187A>C (p.Asp2396Ala)
c.6833A>C (p.Asp2278Ala)
c.4730A>C (p.Asp1577Ala)
n.7680A>C
c.7316A>C (p.Asp2439Ala)
c.6512A>C (p.Asp2171Ala)
c.6317A>C (p.Asp2106Ala)
n.7729A>C
5g.37165568C>ACA359476258CPLANE1c.7504G>T (p.Asp2502Tyr)
n.624G>T
c.4516G>T (p.Asp1506Tyr)
c.576G>T
c.4648G>T (p.Asp1550Tyr)
c.7501G>T (p.Asp2501Tyr)
c.7375G>T (p.Asp2459Tyr)
c.4147G>T (p.Asp1383Tyr)
c.2077G>T (p.Asp693Tyr)
c.7186G>T (p.Asp2396Tyr)
c.6832G>T (p.Asp2278Tyr)
c.4729G>T (p.Asp1577Tyr)
n.7679G>T
c.7315G>T (p.Asp2439Tyr)
c.6511G>T (p.Asp2171Tyr)
c.6316G>T (p.Asp2106Tyr)
n.7728G>T
5g.37165568C>GCA359476259CPLANE1c.7504G>C (p.Asp2502His)
n.624G>C
c.4516G>C (p.Asp1506His)
c.576G>C
c.4648G>C (p.Asp1550His)
c.7501G>C (p.Asp2501His)
c.7375G>C (p.Asp2459His)
c.4147G>C (p.Asp1383His)
c.2077G>C (p.Asp693His)
c.7186G>C (p.Asp2396His)
c.6832G>C (p.Asp2278His)
c.4729G>C (p.Asp1577His)
n.7679G>C
c.7315G>C (p.Asp2439His)
c.6511G>C (p.Asp2171His)
c.6316G>C (p.Asp2106His)
n.7728G>C
 gnomAD v4
5g.37165568C>TCA359476261CPLANE1c.7504G>A (p.Asp2502Asn)
n.624G>A
c.4516G>A (p.Asp1506Asn)
c.576G>A
c.4648G>A (p.Asp1550Asn)
c.7501G>A (p.Asp2501Asn)
c.7375G>A (p.Asp2459Asn)
c.4147G>A (p.Asp1383Asn)
c.2077G>A (p.Asp693Asn)
c.7186G>A (p.Asp2396Asn)
c.6832G>A (p.Asp2278Asn)
c.4729G>A (p.Asp1577Asn)
n.7679G>A
c.7315G>A (p.Asp2439Asn)
c.6511G>A (p.Asp2171Asn)
c.6316G>A (p.Asp2106Asn)
n.7728G>A
5g.37165568_37165571delinsCATTCA1539664190CPLANE1c.7501_7504delinsAATG (p.Asn2501=)
n.621_624delinsAATG
c.4513_4516delinsAATG (p.Asn1505=)
c.573_576delinsAATG
c.4645_4648delinsAATG (p.Asn1549=)
c.7498_7501delinsAATG (p.Asn2500=)
c.7372_7375delinsAATG (p.Asn2458=)
c.4144_4147delinsAATG (p.Asn1382=)
c.2074_2077delinsAATG (p.Asn692=)
c.7183_7186delinsAATG (p.Asn2395=)
c.6829_6832delinsAATG (p.Asn2277=)
c.4726_4729delinsAATG (p.Asn1576=)
n.7676_7679delinsAATG
c.7312_7315delinsAATG (p.Asn2438=)
c.6508_6511delinsAATG (p.Asn2170=)
c.6313_6316delinsAATG (p.Asn2105=)
n.7725_7728delinsAATG
5g.37165569delCA2673612241CPLANE1c.7503del (p.Asn2501LysfsTer?)
n.623del
c.4515del (p.Asn1505LysfsTer?)
c.575del
c.4647del (p.Asn1549LysfsTer?)
c.7500del (p.Asn2500LysfsTer?)
c.7374del (p.Asn2458LysfsTer?)
c.4146del (p.Asn1382LysfsTer?)
c.2076del (p.Asn692LysfsTer?)
c.7185del (p.Asn2395LysfsTer?)
c.6831del (p.Asn2277LysfsTer?)
c.7503del (p.Asn2501LysfsTer16)
c.4728del (p.Asn1576LysfsTer?)
n.7678del
c.7314del (p.Asn2438LysfsTer?)
c.6510del (p.Asn2170LysfsTer?)
c.6315del (p.Asn2105LysfsTer?)
n.7727del
 gnomAD v4
5g.37165569A=CA1539664195CPLANE1c.7503T= (p.Asn2501=)
n.623T=
c.4515T= (p.Asn1505=)
c.575T=
c.4647T= (p.Asn1549=)
c.7500T= (p.Asn2500=)
c.7374T= (p.Asn2458=)
c.4146T= (p.Asn1382=)
c.2076T= (p.Asn692=)
c.7185T= (p.Asn2395=)
c.6831T= (p.Asn2277=)
c.4728T= (p.Asn1576=)
n.7678T=
c.7314T= (p.Asn2438=)
c.6510T= (p.Asn2170=)
c.6315T= (p.Asn2105=)
n.7727T=
5g.37165569A>CCA359476263CPLANE1c.7503T>G (p.Asn2501Lys)
n.623T>G
c.4515T>G (p.Asn1505Lys)
c.575T>G
c.4647T>G (p.Asn1549Lys)
c.7500T>G (p.Asn2500Lys)
c.7374T>G (p.Asn2458Lys)
c.4146T>G (p.Asn1382Lys)
c.2076T>G (p.Asn692Lys)
c.7185T>G (p.Asn2395Lys)
c.6831T>G (p.Asn2277Lys)
c.4728T>G (p.Asn1576Lys)
n.7678T>G
c.7314T>G (p.Asn2438Lys)
c.6510T>G (p.Asn2170Lys)
c.6315T>G (p.Asn2105Lys)
n.7727T>G
5g.37165569A>GCA443920154CPLANE1c.7503T>C (p.Asn2501=)
n.623T>C
c.4515T>C (p.Asn1505=)
c.575T>C
c.4647T>C (p.Asn1549=)
c.7500T>C (p.Asn2500=)
c.7374T>C (p.Asn2458=)
c.4146T>C (p.Asn1382=)
c.2076T>C (p.Asn692=)
c.7185T>C (p.Asn2395=)
c.6831T>C (p.Asn2277=)
c.4728T>C (p.Asn1576=)
n.7678T>C
c.7314T>C (p.Asn2438=)
c.6510T>C (p.Asn2170=)
c.6315T>C (p.Asn2105=)
n.7727T>C
 dbSNP gnomAD v3 gnomAD v4
5g.37165569A>TCA359476264CPLANE1c.7503T>A (p.Asn2501Lys)
n.623T>A
c.4515T>A (p.Asn1505Lys)
c.575T>A
c.4647T>A (p.Asn1549Lys)
c.7500T>A (p.Asn2500Lys)
c.7374T>A (p.Asn2458Lys)
c.4146T>A (p.Asn1382Lys)
c.2076T>A (p.Asn692Lys)
c.7185T>A (p.Asn2395Lys)
c.6831T>A (p.Asn2277Lys)
c.4728T>A (p.Asn1576Lys)
n.7678T>A
c.7314T>A (p.Asn2438Lys)
c.6510T>A (p.Asn2170Lys)
c.6315T>A (p.Asn2105Lys)
n.7727T>A
 dbSNP
5g.37165573_37165575delCA117051681CPLANE1c.7501_7503del (p.Asn2501del)
n.621_623del
c.4513_4515del (p.Asn1505del)
c.573_575del
c.4645_4647del (p.Asn1549del)
c.7498_7500del (p.Asn2500del)
c.7372_7374del (p.Asn2458del)
c.4144_4146del (p.Asn1382del)
c.2074_2076del (p.Asn692del)
c.7183_7185del (p.Asn2395del)
c.6829_6831del (p.Asn2277del)
c.4726_4728del (p.Asn1576del)
n.7676_7678del
c.7312_7314del (p.Asn2438del)
c.6508_6510del (p.Asn2170del)
c.6313_6315del (p.Asn2105del)
n.7725_7727del
 dbSNP gnomAD v4
5g.37165570T>ACA359476266CPLANE1c.7502A>T (p.Asn2501Ile)
n.622A>T
c.4514A>T (p.Asn1505Ile)
c.574A>T
c.4646A>T (p.Asn1549Ile)
c.7499A>T (p.Asn2500Ile)
c.7373A>T (p.Asn2458Ile)
c.4145A>T (p.Asn1382Ile)
c.2075A>T (p.Asn692Ile)
c.7184A>T (p.Asn2395Ile)
c.6830A>T (p.Asn2277Ile)
c.4727A>T (p.Asn1576Ile)
n.7677A>T
c.7313A>T (p.Asn2438Ile)
c.6509A>T (p.Asn2170Ile)
c.6314A>T (p.Asn2105Ile)
n.7726A>T
5g.37165570T>CCA117051687CPLANE1c.7502A>G (p.Asn2501Ser)
n.622A>G
c.4514A>G (p.Asn1505Ser)
c.574A>G
c.4646A>G (p.Asn1549Ser)
c.7499A>G (p.Asn2500Ser)
c.7373A>G (p.Asn2458Ser)
c.4145A>G (p.Asn1382Ser)
c.2075A>G (p.Asn692Ser)
c.7184A>G (p.Asn2395Ser)
c.6830A>G (p.Asn2277Ser)
c.4727A>G (p.Asn1576Ser)
n.7677A>G
c.7313A>G (p.Asn2438Ser)
c.6509A>G (p.Asn2170Ser)
c.6314A>G (p.Asn2105Ser)
n.7726A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37165570T>GCA359476268CPLANE1c.7502A>C (p.Asn2501Thr)
n.622A>C
c.4514A>C (p.Asn1505Thr)
c.574A>C
c.4646A>C (p.Asn1549Thr)
c.7499A>C (p.Asn2500Thr)
c.7373A>C (p.Asn2458Thr)
c.4145A>C (p.Asn1382Thr)
c.2075A>C (p.Asn692Thr)
c.7184A>C (p.Asn2395Thr)
c.6830A>C (p.Asn2277Thr)
c.4727A>C (p.Asn1576Thr)
n.7677A>C
c.7313A>C (p.Asn2438Thr)
c.6509A>C (p.Asn2170Thr)
c.6314A>C (p.Asn2105Thr)
n.7726A>C
5g.37165570T=CA1539664201CPLANE1c.7502A= (p.Asn2501=)
n.622A=
c.4514A= (p.Asn1505=)
c.574A=
c.4646A= (p.Asn1549=)
c.7499A= (p.Asn2500=)
c.7373A= (p.Asn2458=)
c.4145A= (p.Asn1382=)
c.2075A= (p.Asn692=)
c.7184A= (p.Asn2395=)
c.6830A= (p.Asn2277=)
c.4727A= (p.Asn1576=)
n.7677A=
c.7313A= (p.Asn2438=)
c.6509A= (p.Asn2170=)
c.6314A= (p.Asn2105=)
n.7726A=
5g.37165571T>ACA359476270CPLANE1c.7501A>T (p.Asn2501Tyr)
n.621A>T
c.4513A>T (p.Asn1505Tyr)
c.573A>T
c.4645A>T (p.Asn1549Tyr)
c.7498A>T (p.Asn2500Tyr)
c.7372A>T (p.Asn2458Tyr)
c.4144A>T (p.Asn1382Tyr)
c.2074A>T (p.Asn692Tyr)
c.7183A>T (p.Asn2395Tyr)
c.6829A>T (p.Asn2277Tyr)
c.4726A>T (p.Asn1576Tyr)
n.7676A>T
c.7312A>T (p.Asn2438Tyr)
c.6508A>T (p.Asn2170Tyr)
c.6313A>T (p.Asn2105Tyr)
n.7725A>T
5g.37165571T>CCA359476271CPLANE1c.7501A>G (p.Asn2501Asp)
n.621A>G
c.4513A>G (p.Asn1505Asp)
c.573A>G
c.4645A>G (p.Asn1549Asp)
c.7498A>G (p.Asn2500Asp)
c.7372A>G (p.Asn2458Asp)
c.4144A>G (p.Asn1382Asp)
c.2074A>G (p.Asn692Asp)
c.7183A>G (p.Asn2395Asp)
c.6829A>G (p.Asn2277Asp)
c.4726A>G (p.Asn1576Asp)
n.7676A>G
c.7312A>G (p.Asn2438Asp)
c.6508A>G (p.Asn2170Asp)
c.6313A>G (p.Asn2105Asp)
n.7725A>G
5g.37165571T>GCA359476273CPLANE1c.7501A>C (p.Asn2501His)
n.621A>C
c.4513A>C (p.Asn1505His)
c.573A>C
c.4645A>C (p.Asn1549His)
c.7498A>C (p.Asn2500His)
c.7372A>C (p.Asn2458His)
c.4144A>C (p.Asn1382His)
c.2074A>C (p.Asn692His)
c.7183A>C (p.Asn2395His)
c.6829A>C (p.Asn2277His)
c.4726A>C (p.Asn1576His)
n.7676A>C
c.7312A>C (p.Asn2438His)
c.6508A>C (p.Asn2170His)
c.6313A>C (p.Asn2105His)
n.7725A>C
5g.37165572A>CCA359476276CPLANE1c.7500T>G (p.Asn2500Lys)
n.620T>G
c.4512T>G (p.Asn1504Lys)
c.572T>G
c.4644T>G (p.Asn1548Lys)
c.7497T>G (p.Asn2499Lys)
c.7371T>G (p.Asn2457Lys)
c.4143T>G (p.Asn1381Lys)
c.2073T>G (p.Asn691Lys)
c.7182T>G (p.Asn2394Lys)
c.6828T>G (p.Asn2276Lys)
c.4725T>G (p.Asn1575Lys)
n.7675T>G
c.7311T>G (p.Asn2437Lys)
c.6507T>G (p.Asn2169Lys)
c.6312T>G (p.Asn2104Lys)
n.7724T>G
5g.37165572A>GCA443920159CPLANE1c.7500T>C (p.Asn2500=)
n.620T>C
c.4512T>C (p.Asn1504=)
c.572T>C
c.4644T>C (p.Asn1548=)
c.7497T>C (p.Asn2499=)
c.7371T>C (p.Asn2457=)
c.4143T>C (p.Asn1381=)
c.2073T>C (p.Asn691=)
c.7182T>C (p.Asn2394=)
c.6828T>C (p.Asn2276=)
c.4725T>C (p.Asn1575=)
n.7675T>C
c.7311T>C (p.Asn2437=)
c.6507T>C (p.Asn2169=)
c.6312T>C (p.Asn2104=)
n.7724T>C
5g.37165572A>TCA359476275CPLANE1c.7500T>A (p.Asn2500Lys)
n.620T>A
c.4512T>A (p.Asn1504Lys)
c.572T>A
c.4644T>A (p.Asn1548Lys)
c.7497T>A (p.Asn2499Lys)
c.7371T>A (p.Asn2457Lys)
c.4143T>A (p.Asn1381Lys)
c.2073T>A (p.Asn691Lys)
c.7182T>A (p.Asn2394Lys)
c.6828T>A (p.Asn2276Lys)
c.4725T>A (p.Asn1575Lys)
n.7675T>A
c.7311T>A (p.Asn2437Lys)
c.6507T>A (p.Asn2169Lys)
c.6312T>A (p.Asn2104Lys)
n.7724T>A
5g.37165573T>ACA359476277CPLANE1c.7499A>T (p.Asn2500Ile)
n.619A>T
c.4511A>T (p.Asn1504Ile)
c.571A>T
c.4643A>T (p.Asn1548Ile)
c.7496A>T (p.Asn2499Ile)
c.7370A>T (p.Asn2457Ile)
c.4142A>T (p.Asn1381Ile)
c.2072A>T (p.Asn691Ile)
c.7181A>T (p.Asn2394Ile)
c.6827A>T (p.Asn2276Ile)
c.4724A>T (p.Asn1575Ile)
n.7674A>T
c.7310A>T (p.Asn2437Ile)
c.6506A>T (p.Asn2169Ile)
c.6311A>T (p.Asn2104Ile)
n.7723A>T
 gnomAD v4
5g.37165573T>CCA359476280CPLANE1c.7499A>G (p.Asn2500Ser)
n.619A>G
c.4511A>G (p.Asn1504Ser)
c.571A>G
c.4643A>G (p.Asn1548Ser)
c.7496A>G (p.Asn2499Ser)
c.7370A>G (p.Asn2457Ser)
c.4142A>G (p.Asn1381Ser)
c.2072A>G (p.Asn691Ser)
c.7181A>G (p.Asn2394Ser)
c.6827A>G (p.Asn2276Ser)
c.4724A>G (p.Asn1575Ser)
n.7674A>G
c.7310A>G (p.Asn2437Ser)
c.6506A>G (p.Asn2169Ser)
c.6311A>G (p.Asn2104Ser)
n.7723A>G
 ClinVar dbSNP
5g.37165573T>GCA359476278CPLANE1c.7499A>C (p.Asn2500Thr)
n.619A>C
c.4511A>C (p.Asn1504Thr)
c.571A>C
c.4643A>C (p.Asn1548Thr)
c.7496A>C (p.Asn2499Thr)
c.7370A>C (p.Asn2457Thr)
c.4142A>C (p.Asn1381Thr)
c.2072A>C (p.Asn691Thr)
c.7181A>C (p.Asn2394Thr)
c.6827A>C (p.Asn2276Thr)
c.4724A>C (p.Asn1575Thr)
n.7674A>C
c.7310A>C (p.Asn2437Thr)
c.6506A>C (p.Asn2169Thr)
c.6311A>C (p.Asn2104Thr)
n.7723A>C
5g.37165574T>ACA359476282CPLANE1c.7498A>T (p.Asn2500Tyr)
n.618A>T
c.4510A>T (p.Asn1504Tyr)
c.570A>T
c.4642A>T (p.Asn1548Tyr)
c.7495A>T (p.Asn2499Tyr)
c.7369A>T (p.Asn2457Tyr)
c.4141A>T (p.Asn1381Tyr)
c.2071A>T (p.Asn691Tyr)
c.7180A>T (p.Asn2394Tyr)
c.6826A>T (p.Asn2276Tyr)
c.4723A>T (p.Asn1575Tyr)
n.7673A>T
c.7309A>T (p.Asn2437Tyr)
c.6505A>T (p.Asn2169Tyr)
c.6310A>T (p.Asn2104Tyr)
n.7722A>T
5g.37165574T>CCA359476283CPLANE1c.7498A>G (p.Asn2500Asp)
n.618A>G
c.4510A>G (p.Asn1504Asp)
c.570A>G
c.4642A>G (p.Asn1548Asp)
c.7495A>G (p.Asn2499Asp)
c.7369A>G (p.Asn2457Asp)
c.4141A>G (p.Asn1381Asp)
c.2071A>G (p.Asn691Asp)
c.7180A>G (p.Asn2394Asp)
c.6826A>G (p.Asn2276Asp)
c.4723A>G (p.Asn1575Asp)
n.7673A>G
c.7309A>G (p.Asn2437Asp)
c.6505A>G (p.Asn2169Asp)
c.6310A>G (p.Asn2104Asp)
n.7722A>G
 gnomAD v4
5g.37165574T>GCA359476285CPLANE1c.7498A>C (p.Asn2500His)
n.618A>C
c.4510A>C (p.Asn1504His)
c.570A>C
c.4642A>C (p.Asn1548His)
c.7495A>C (p.Asn2499His)
c.7369A>C (p.Asn2457His)
c.4141A>C (p.Asn1381His)
c.2071A>C (p.Asn691His)
c.7180A>C (p.Asn2394His)
c.6826A>C (p.Asn2276His)
c.4723A>C (p.Asn1575His)
n.7673A>C
c.7309A>C (p.Asn2437His)
c.6505A>C (p.Asn2169His)
c.6310A>C (p.Asn2104His)
n.7722A>C
5g.37165575A>CCA359476286CPLANE1c.7497T>G (p.Ile2499Met)
n.617T>G
c.4509T>G (p.Ile1503Met)
c.569T>G
c.4641T>G (p.Ile1547Met)
c.7494T>G (p.Ile2498Met)
c.7368T>G (p.Ile2456Met)
c.4140T>G (p.Ile1380Met)
c.2070T>G (p.Ile690Met)
c.7179T>G (p.Ile2393Met)
c.6825T>G (p.Ile2275Met)
c.4722T>G (p.Ile1574Met)
n.7672T>G
c.7308T>G (p.Ile2436Met)
c.6504T>G (p.Ile2168Met)
c.6309T>G (p.Ile2103Met)
n.7721T>G
5g.37165575A>GCA443920164CPLANE1c.7497T>C (p.Ile2499=)
n.617T>C
c.4509T>C (p.Ile1503=)
c.569T>C
c.4641T>C (p.Ile1547=)
c.7494T>C (p.Ile2498=)
c.7368T>C (p.Ile2456=)
c.4140T>C (p.Ile1380=)
c.2070T>C (p.Ile690=)
c.7179T>C (p.Ile2393=)
c.6825T>C (p.Ile2275=)
c.4722T>C (p.Ile1574=)
n.7672T>C
c.7308T>C (p.Ile2436=)
c.6504T>C (p.Ile2168=)
c.6309T>C (p.Ile2103=)
n.7721T>C
5g.37165575A>TCA443920161CPLANE1c.7497T>A (p.Ile2499=)
n.617T>A
c.4509T>A (p.Ile1503=)
c.569T>A
c.4641T>A (p.Ile1547=)
c.7494T>A (p.Ile2498=)
c.7368T>A (p.Ile2456=)
c.4140T>A (p.Ile1380=)
c.2070T>A (p.Ile690=)
c.7179T>A (p.Ile2393=)
c.6825T>A (p.Ile2275=)
c.4722T>A (p.Ile1574=)
n.7672T>A
c.7308T>A (p.Ile2436=)
c.6504T>A (p.Ile2168=)
c.6309T>A (p.Ile2103=)
n.7721T>A
5g.37165576A>CCA359476288CPLANE1c.7496T>G (p.Ile2499Ser)
n.616T>G
c.4508T>G (p.Ile1503Ser)
c.568T>G
c.4640T>G (p.Ile1547Ser)
c.7493T>G (p.Ile2498Ser)
c.7367T>G (p.Ile2456Ser)
c.4139T>G (p.Ile1380Ser)
c.2069T>G (p.Ile690Ser)
c.7178T>G (p.Ile2393Ser)
c.6824T>G (p.Ile2275Ser)
c.4721T>G (p.Ile1574Ser)
n.7671T>G
c.7307T>G (p.Ile2436Ser)
c.6503T>G (p.Ile2168Ser)
c.6308T>G (p.Ile2103Ser)
n.7720T>G
5g.37165576A>GCA359476289CPLANE1c.7496T>C (p.Ile2499Thr)
n.616T>C
c.4508T>C (p.Ile1503Thr)
c.568T>C
c.4640T>C (p.Ile1547Thr)
c.7493T>C (p.Ile2498Thr)
c.7367T>C (p.Ile2456Thr)
c.4139T>C (p.Ile1380Thr)
c.2069T>C (p.Ile690Thr)
c.7178T>C (p.Ile2393Thr)
c.6824T>C (p.Ile2275Thr)
c.4721T>C (p.Ile1574Thr)
n.7671T>C
c.7307T>C (p.Ile2436Thr)
c.6503T>C (p.Ile2168Thr)
c.6308T>C (p.Ile2103Thr)
n.7720T>C
5g.37165576A>TCA359476290CPLANE1c.7496T>A (p.Ile2499Asn)
n.616T>A
c.4508T>A (p.Ile1503Asn)
c.568T>A
c.4640T>A (p.Ile1547Asn)
c.7493T>A (p.Ile2498Asn)
c.7367T>A (p.Ile2456Asn)
c.4139T>A (p.Ile1380Asn)
c.2069T>A (p.Ile690Asn)
c.7178T>A (p.Ile2393Asn)
c.6824T>A (p.Ile2275Asn)
c.4721T>A (p.Ile1574Asn)
n.7671T>A
c.7307T>A (p.Ile2436Asn)
c.6503T>A (p.Ile2168Asn)
c.6308T>A (p.Ile2103Asn)
n.7720T>A
5g.37165577T>ACA359476293CPLANE1c.7495A>T (p.Ile2499Phe)
n.615A>T
c.4507A>T (p.Ile1503Phe)
c.567A>T
c.4639A>T (p.Ile1547Phe)
c.7492A>T (p.Ile2498Phe)
c.7366A>T (p.Ile2456Phe)
c.4138A>T (p.Ile1380Phe)
c.2068A>T (p.Ile690Phe)
c.7177A>T (p.Ile2393Phe)
c.6823A>T (p.Ile2275Phe)
c.4720A>T (p.Ile1574Phe)
n.7670A>T
c.7306A>T (p.Ile2436Phe)
c.6502A>T (p.Ile2168Phe)
c.6307A>T (p.Ile2103Phe)
n.7719A>T
5g.37165577T>CCA359476294CPLANE1c.7495A>G (p.Ile2499Val)
n.615A>G
c.4507A>G (p.Ile1503Val)
c.567A>G
c.4639A>G (p.Ile1547Val)
c.7492A>G (p.Ile2498Val)
c.7366A>G (p.Ile2456Val)
c.4138A>G (p.Ile1380Val)
c.2068A>G (p.Ile690Val)
c.7177A>G (p.Ile2393Val)
c.6823A>G (p.Ile2275Val)
c.4720A>G (p.Ile1574Val)
n.7670A>G
c.7306A>G (p.Ile2436Val)
c.6502A>G (p.Ile2168Val)
c.6307A>G (p.Ile2103Val)
n.7719A>G
5g.37165577T>GCA359476296CPLANE1c.7495A>C (p.Ile2499Leu)
n.615A>C
c.4507A>C (p.Ile1503Leu)
c.567A>C
c.4639A>C (p.Ile1547Leu)
c.7492A>C (p.Ile2498Leu)
c.7366A>C (p.Ile2456Leu)
c.4138A>C (p.Ile1380Leu)
c.2068A>C (p.Ile690Leu)
c.7177A>C (p.Ile2393Leu)
c.6823A>C (p.Ile2275Leu)
c.4720A>C (p.Ile1574Leu)
n.7670A>C
c.7306A>C (p.Ile2436Leu)
c.6502A>C (p.Ile2168Leu)
c.6307A>C (p.Ile2103Leu)
n.7719A>C
5g.37165578dupCA2765915018CPLANE1c.7495dup (p.Ile2499AsnfsTer2)
n.615dup
c.4507dup (p.Ile1503AsnfsTer2)
c.567dup
c.4639dup (p.Ile1547AsnfsTer2)
c.7492dup (p.Ile2498AsnfsTer2)
c.7366dup (p.Ile2456AsnfsTer2)
c.4138dup (p.Ile1380AsnfsTer2)
c.2068dup (p.Ile690AsnfsTer2)
c.7177dup (p.Ile2393AsnfsTer2)
c.6823dup (p.Ile2275AsnfsTer2)
c.4720dup (p.Ile1574AsnfsTer2)
n.7670dup
c.7306dup (p.Ile2436AsnfsTer2)
c.6502dup (p.Ile2168AsnfsTer2)
c.6307dup (p.Ile2103AsnfsTer2)
n.7719dup
5g.37165578T>ACA443920165CPLANE1c.7494A>T (p.Ile2498=)
n.614A>T
c.4506A>T (p.Ile1502=)
c.566A>T
c.4638A>T (p.Ile1546=)
c.7491A>T (p.Ile2497=)
c.7365A>T (p.Ile2455=)
c.4137A>T (p.Ile1379=)
c.2067A>T (p.Ile689=)
c.7176A>T (p.Ile2392=)
c.6822A>T (p.Ile2274=)
c.4719A>T (p.Ile1573=)
n.7669A>T
c.7305A>T (p.Ile2435=)
c.6501A>T (p.Ile2167=)
c.6306A>T (p.Ile2102=)
n.7718A>T
5g.37165578T>CCA359476297CPLANE1c.7494A>G (p.Ile2498Met)
n.614A>G
c.4506A>G (p.Ile1502Met)
c.566A>G
c.4638A>G (p.Ile1546Met)
c.7491A>G (p.Ile2497Met)
c.7365A>G (p.Ile2455Met)
c.4137A>G (p.Ile1379Met)
c.2067A>G (p.Ile689Met)
c.7176A>G (p.Ile2392Met)
c.6822A>G (p.Ile2274Met)
c.4719A>G (p.Ile1573Met)
n.7669A>G
c.7305A>G (p.Ile2435Met)
c.6501A>G (p.Ile2167Met)
c.6306A>G (p.Ile2102Met)
n.7718A>G
 ClinVar dbSNP
5g.37165578T>GCA443920168CPLANE1c.7494A>C (p.Ile2498=)
n.614A>C
c.4506A>C (p.Ile1502=)
c.566A>C
c.4638A>C (p.Ile1546=)
c.7491A>C (p.Ile2497=)
c.7365A>C (p.Ile2455=)
c.4137A>C (p.Ile1379=)
c.2067A>C (p.Ile689=)
c.7176A>C (p.Ile2392=)
c.6822A>C (p.Ile2274=)
c.4719A>C (p.Ile1573=)
n.7669A>C
c.7305A>C (p.Ile2435=)
c.6501A>C (p.Ile2167=)
c.6306A>C (p.Ile2102=)
n.7718A>C
5g.37165578T=CA1539664203CPLANE1c.7494A= (p.Ile2498=)
n.614A=
c.4506A= (p.Ile1502=)
c.566A=
c.4638A= (p.Ile1546=)
c.7491A= (p.Ile2497=)
c.7365A= (p.Ile2455=)
c.4137A= (p.Ile1379=)
c.2067A= (p.Ile689=)
c.7176A= (p.Ile2392=)
c.6822A= (p.Ile2274=)
c.4719A= (p.Ile1573=)
n.7669A=
c.7305A= (p.Ile2435=)
c.6501A= (p.Ile2167=)
c.6306A= (p.Ile2102=)
n.7718A=
5g.37165579A>CCA359476303CPLANE1c.7493T>G (p.Ile2498Arg)
n.613T>G
c.4505T>G (p.Ile1502Arg)
c.565T>G
c.4637T>G (p.Ile1546Arg)
c.7490T>G (p.Ile2497Arg)
c.7364T>G (p.Ile2455Arg)
c.4136T>G (p.Ile1379Arg)
c.2066T>G (p.Ile689Arg)
c.7175T>G (p.Ile2392Arg)
c.6821T>G (p.Ile2274Arg)
c.4718T>G (p.Ile1573Arg)
n.7668T>G
c.7304T>G (p.Ile2435Arg)
c.6500T>G (p.Ile2167Arg)
c.6305T>G (p.Ile2102Arg)
n.7717T>G
5g.37165579A>GCA359476299CPLANE1c.7493T>C (p.Ile2498Thr)
n.613T>C
c.4505T>C (p.Ile1502Thr)
c.565T>C
c.4637T>C (p.Ile1546Thr)
c.7490T>C (p.Ile2497Thr)
c.7364T>C (p.Ile2455Thr)
c.4136T>C (p.Ile1379Thr)
c.2066T>C (p.Ile689Thr)
c.7175T>C (p.Ile2392Thr)
c.6821T>C (p.Ile2274Thr)
c.4718T>C (p.Ile1573Thr)
n.7668T>C
c.7304T>C (p.Ile2435Thr)
c.6500T>C (p.Ile2167Thr)
c.6305T>C (p.Ile2102Thr)
n.7717T>C
5g.37165579A>TCA359476301CPLANE1c.7493T>A (p.Ile2498Lys)
n.613T>A
c.4505T>A (p.Ile1502Lys)
c.565T>A
c.4637T>A (p.Ile1546Lys)
c.7490T>A (p.Ile2497Lys)
c.7364T>A (p.Ile2455Lys)
c.4136T>A (p.Ile1379Lys)
c.2066T>A (p.Ile689Lys)
c.7175T>A (p.Ile2392Lys)
c.6821T>A (p.Ile2274Lys)
c.4718T>A (p.Ile1573Lys)
n.7668T>A
c.7304T>A (p.Ile2435Lys)
c.6500T>A (p.Ile2167Lys)
c.6305T>A (p.Ile2102Lys)
n.7717T>A
5g.37165580T>ACA359476304CPLANE1c.7492A>T (p.Ile2498Leu)
n.612A>T
c.4504A>T (p.Ile1502Leu)
c.564A>T
c.4636A>T (p.Ile1546Leu)
c.7489A>T (p.Ile2497Leu)
c.7363A>T (p.Ile2455Leu)
c.4135A>T (p.Ile1379Leu)
c.2065A>T (p.Ile689Leu)
c.7174A>T (p.Ile2392Leu)
c.6820A>T (p.Ile2274Leu)
c.4717A>T (p.Ile1573Leu)
n.7667A>T
c.7303A>T (p.Ile2435Leu)
c.6499A>T (p.Ile2167Leu)
c.6304A>T (p.Ile2102Leu)
n.7716A>T
5g.37165580T>CCA117051690CPLANE1c.7492A>G (p.Ile2498Val)
n.612A>G
c.4504A>G (p.Ile1502Val)
c.564A>G
c.4636A>G (p.Ile1546Val)
c.7489A>G (p.Ile2497Val)
c.7363A>G (p.Ile2455Val)
c.4135A>G (p.Ile1379Val)
c.2065A>G (p.Ile689Val)
c.7174A>G (p.Ile2392Val)
c.6820A>G (p.Ile2274Val)
c.4717A>G (p.Ile1573Val)
n.7667A>G
c.7303A>G (p.Ile2435Val)
c.6499A>G (p.Ile2167Val)
c.6304A>G (p.Ile2102Val)
n.7716A>G
 dbSNP gnomAD v4
5g.37165580T>GCA359476306CPLANE1c.7492A>C (p.Ile2498Leu)
n.612A>C
c.4504A>C (p.Ile1502Leu)
c.564A>C
c.4636A>C (p.Ile1546Leu)
c.7489A>C (p.Ile2497Leu)
c.7363A>C (p.Ile2455Leu)
c.4135A>C (p.Ile1379Leu)
c.2065A>C (p.Ile689Leu)
c.7174A>C (p.Ile2392Leu)
c.6820A>C (p.Ile2274Leu)
c.4717A>C (p.Ile1573Leu)
n.7667A>C
c.7303A>C (p.Ile2435Leu)
c.6499A>C (p.Ile2167Leu)
c.6304A>C (p.Ile2102Leu)
n.7716A>C
5g.37165580T=CA1539664208CPLANE1c.7492A= (p.Ile2498=)
n.612A=
c.4504A= (p.Ile1502=)
c.564A=
c.4636A= (p.Ile1546=)
c.7489A= (p.Ile2497=)
c.7363A= (p.Ile2455=)
c.4135A= (p.Ile1379=)
c.2065A= (p.Ile689=)
c.7174A= (p.Ile2392=)
c.6820A= (p.Ile2274=)
c.4717A= (p.Ile1573=)
n.7667A=
c.7303A= (p.Ile2435=)
c.6499A= (p.Ile2167=)
c.6304A= (p.Ile2102=)
n.7716A=
5g.37165581G>ACA443920175CPLANE1c.7491C>T (p.Ser2497=)
n.611C>T
c.4503C>T (p.Ser1501=)
c.563C>T
c.4635C>T (p.Ser1545=)
c.7488C>T (p.Ser2496=)
c.7362C>T (p.Ser2454=)
c.4134C>T (p.Ser1378=)
c.2064C>T (p.Ser688=)
c.7173C>T (p.Ser2391=)
c.6819C>T (p.Ser2273=)
c.4716C>T (p.Ser1572=)
n.7666C>T
c.7302C>T (p.Ser2434=)
c.6498C>T (p.Ser2166=)
c.6303C>T (p.Ser2101=)
n.7715C>T
 gnomAD v4 COSMIC COSMIC
5g.37165581G>CCA443920173CPLANE1c.7491C>G (p.Ser2497=)
n.611C>G
c.4503C>G (p.Ser1501=)
c.563C>G
c.4635C>G (p.Ser1545=)
c.7488C>G (p.Ser2496=)
c.7362C>G (p.Ser2454=)
c.4134C>G (p.Ser1378=)
c.2064C>G (p.Ser688=)
c.7173C>G (p.Ser2391=)
c.6819C>G (p.Ser2273=)
c.4716C>G (p.Ser1572=)
n.7666C>G
c.7302C>G (p.Ser2434=)
c.6498C>G (p.Ser2166=)
c.6303C>G (p.Ser2101=)
n.7715C>G
5g.37165581G>TCA443920171CPLANE1c.7491C>A (p.Ser2497=)
n.611C>A
c.4503C>A (p.Ser1501=)
c.563C>A
c.4635C>A (p.Ser1545=)
c.7488C>A (p.Ser2496=)
c.7362C>A (p.Ser2454=)
c.4134C>A (p.Ser1378=)
c.2064C>A (p.Ser688=)
c.7173C>A (p.Ser2391=)
c.6819C>A (p.Ser2273=)
c.4716C>A (p.Ser1572=)
n.7666C>A
c.7302C>A (p.Ser2434=)
c.6498C>A (p.Ser2166=)
c.6303C>A (p.Ser2101=)
n.7715C>A
5g.37165582G>ACA359476308CPLANE1c.7490C>T (p.Ser2497Phe)
n.610C>T
c.4502C>T (p.Ser1501Phe)
c.562C>T
c.4634C>T (p.Ser1545Phe)
c.7487C>T (p.Ser2496Phe)
c.7361C>T (p.Ser2454Phe)
c.4133C>T (p.Ser1378Phe)
c.2063C>T (p.Ser688Phe)
c.7172C>T (p.Ser2391Phe)
c.6818C>T (p.Ser2273Phe)
c.4715C>T (p.Ser1572Phe)
n.7665C>T
c.7301C>T (p.Ser2434Phe)
c.6497C>T (p.Ser2166Phe)
c.6302C>T (p.Ser2101Phe)
n.7714C>T
5g.37165582G>CCA359476309CPLANE1c.7490C>G (p.Ser2497Cys)
n.610C>G
c.4502C>G (p.Ser1501Cys)
c.562C>G
c.4634C>G (p.Ser1545Cys)
c.7487C>G (p.Ser2496Cys)
c.7361C>G (p.Ser2454Cys)
c.4133C>G (p.Ser1378Cys)
c.2063C>G (p.Ser688Cys)
c.7172C>G (p.Ser2391Cys)
c.6818C>G (p.Ser2273Cys)
c.4715C>G (p.Ser1572Cys)
n.7665C>G
c.7301C>G (p.Ser2434Cys)
c.6497C>G (p.Ser2166Cys)
c.6302C>G (p.Ser2101Cys)
n.7714C>G
5g.37165582G>TCA359476310CPLANE1c.7490C>A (p.Ser2497Tyr)
n.610C>A
c.4502C>A (p.Ser1501Tyr)
c.562C>A
c.4634C>A (p.Ser1545Tyr)
c.7487C>A (p.Ser2496Tyr)
c.7361C>A (p.Ser2454Tyr)
c.4133C>A (p.Ser1378Tyr)
c.2063C>A (p.Ser688Tyr)
c.7172C>A (p.Ser2391Tyr)
c.6818C>A (p.Ser2273Tyr)
c.4715C>A (p.Ser1572Tyr)
n.7665C>A
c.7301C>A (p.Ser2434Tyr)
c.6497C>A (p.Ser2166Tyr)
c.6302C>A (p.Ser2101Tyr)
n.7714C>A
5g.37165583A>CCA359476312CPLANE1c.7489T>G (p.Ser2497Ala)
n.609T>G
c.4501T>G (p.Ser1501Ala)
c.561T>G
c.4633T>G (p.Ser1545Ala)
c.7486T>G (p.Ser2496Ala)
c.7360T>G (p.Ser2454Ala)
c.4132T>G (p.Ser1378Ala)
c.2062T>G (p.Ser688Ala)
c.7171T>G (p.Ser2391Ala)
c.6817T>G (p.Ser2273Ala)
c.4714T>G (p.Ser1572Ala)
n.7664T>G
c.7300T>G (p.Ser2434Ala)
c.6496T>G (p.Ser2166Ala)
c.6301T>G (p.Ser2101Ala)
n.7713T>G
5g.37165583A>GCA359476313CPLANE1c.7489T>C (p.Ser2497Pro)
n.609T>C
c.4501T>C (p.Ser1501Pro)
c.561T>C
c.4633T>C (p.Ser1545Pro)
c.7486T>C (p.Ser2496Pro)
c.7360T>C (p.Ser2454Pro)
c.4132T>C (p.Ser1378Pro)
c.2062T>C (p.Ser688Pro)
c.7171T>C (p.Ser2391Pro)
c.6817T>C (p.Ser2273Pro)
c.4714T>C (p.Ser1572Pro)
n.7664T>C
c.7300T>C (p.Ser2434Pro)
c.6496T>C (p.Ser2166Pro)
c.6301T>C (p.Ser2101Pro)
n.7713T>C
5g.37165583A>TCA359476315CPLANE1c.7489T>A (p.Ser2497Thr)
n.609T>A
c.4501T>A (p.Ser1501Thr)
c.561T>A
c.4633T>A (p.Ser1545Thr)
c.7486T>A (p.Ser2496Thr)
c.7360T>A (p.Ser2454Thr)
c.4132T>A (p.Ser1378Thr)
c.2062T>A (p.Ser688Thr)
c.7171T>A (p.Ser2391Thr)
c.6817T>A (p.Ser2273Thr)
c.4714T>A (p.Ser1572Thr)
n.7664T>A
c.7300T>A (p.Ser2434Thr)
c.6496T>A (p.Ser2166Thr)
c.6301T>A (p.Ser2101Thr)
n.7713T>A
 gnomAD v4
5g.37165584A>CCA359476316CPLANE1c.7488T>G (p.Asn2496Lys)
n.608T>G
c.4500T>G (p.Asn1500Lys)
c.560T>G
c.4632T>G (p.Asn1544Lys)
c.7485T>G (p.Asn2495Lys)
c.7359T>G (p.Asn2453Lys)
c.4131T>G (p.Asn1377Lys)
c.2061T>G (p.Asn687Lys)
c.7170T>G (p.Asn2390Lys)
c.6816T>G (p.Asn2272Lys)
c.4713T>G (p.Asn1571Lys)
n.7663T>G
c.7299T>G (p.Asn2433Lys)
c.6495T>G (p.Asn2165Lys)
c.6300T>G (p.Asn2100Lys)
n.7712T>G
5g.37165584A>GCA443920178CPLANE1c.7488T>C (p.Asn2496=)
n.608T>C
c.4500T>C (p.Asn1500=)
c.560T>C
c.4632T>C (p.Asn1544=)
c.7485T>C (p.Asn2495=)
c.7359T>C (p.Asn2453=)
c.4131T>C (p.Asn1377=)
c.2061T>C (p.Asn687=)
c.7170T>C (p.Asn2390=)
c.6816T>C (p.Asn2272=)
c.4713T>C (p.Asn1571=)
n.7663T>C
c.7299T>C (p.Asn2433=)
c.6495T>C (p.Asn2165=)
c.6300T>C (p.Asn2100=)
n.7712T>C
5g.37165584A>TCA359476317CPLANE1c.7488T>A (p.Asn2496Lys)
n.608T>A
c.4500T>A (p.Asn1500Lys)
c.560T>A
c.4632T>A (p.Asn1544Lys)
c.7485T>A (p.Asn2495Lys)
c.7359T>A (p.Asn2453Lys)
c.4131T>A (p.Asn1377Lys)
c.2061T>A (p.Asn687Lys)
c.7170T>A (p.Asn2390Lys)
c.6816T>A (p.Asn2272Lys)
c.4713T>A (p.Asn1571Lys)
n.7663T>A
c.7299T>A (p.Asn2433Lys)
c.6495T>A (p.Asn2165Lys)
c.6300T>A (p.Asn2100Lys)
n.7712T>A
5g.37165585T>ACA359476321CPLANE1c.7487A>T (p.Asn2496Ile)
n.607A>T
c.4499A>T (p.Asn1500Ile)
c.559A>T
c.4631A>T (p.Asn1544Ile)
c.7484A>T (p.Asn2495Ile)
c.7358A>T (p.Asn2453Ile)
c.4130A>T (p.Asn1377Ile)
c.2060A>T (p.Asn687Ile)
c.7169A>T (p.Asn2390Ile)
c.6815A>T (p.Asn2272Ile)
c.4712A>T (p.Asn1571Ile)
n.7662A>T
c.7298A>T (p.Asn2433Ile)
c.6494A>T (p.Asn2165Ile)
c.6299A>T (p.Asn2100Ile)
n.7711A>T
5g.37165585T>CCA359476322CPLANE1c.7487A>G (p.Asn2496Ser)
n.607A>G
c.4499A>G (p.Asn1500Ser)
c.559A>G
c.4631A>G (p.Asn1544Ser)
c.7484A>G (p.Asn2495Ser)
c.7358A>G (p.Asn2453Ser)
c.4130A>G (p.Asn1377Ser)
c.2060A>G (p.Asn687Ser)
c.7169A>G (p.Asn2390Ser)
c.6815A>G (p.Asn2272Ser)
c.4712A>G (p.Asn1571Ser)
n.7662A>G
c.7298A>G (p.Asn2433Ser)
c.6494A>G (p.Asn2165Ser)
c.6299A>G (p.Asn2100Ser)
n.7711A>G
5g.37165585T>GCA359476319CPLANE1c.7487A>C (p.Asn2496Thr)
n.607A>C
c.4499A>C (p.Asn1500Thr)
c.559A>C
c.4631A>C (p.Asn1544Thr)
c.7484A>C (p.Asn2495Thr)
c.7358A>C (p.Asn2453Thr)
c.4130A>C (p.Asn1377Thr)
c.2060A>C (p.Asn687Thr)
c.7169A>C (p.Asn2390Thr)
c.6815A>C (p.Asn2272Thr)
c.4712A>C (p.Asn1571Thr)
n.7662A>C
c.7298A>C (p.Asn2433Thr)
c.6494A>C (p.Asn2165Thr)
c.6299A>C (p.Asn2100Thr)
n.7711A>C
5g.37165586T>ACA359476324CPLANE1c.7486A>T (p.Asn2496Tyr)
n.606A>T
c.4498A>T (p.Asn1500Tyr)
c.558A>T
c.4630A>T (p.Asn1544Tyr)
c.7483A>T (p.Asn2495Tyr)
c.7357A>T (p.Asn2453Tyr)
c.4129A>T (p.Asn1377Tyr)
c.2059A>T (p.Asn687Tyr)
c.7168A>T (p.Asn2390Tyr)
c.6814A>T (p.Asn2272Tyr)
c.4711A>T (p.Asn1571Tyr)
n.7661A>T
c.7297A>T (p.Asn2433Tyr)
c.6493A>T (p.Asn2165Tyr)
c.6298A>T (p.Asn2100Tyr)
n.7710A>T
5g.37165586T>CCA3238051CPLANE1c.7486A>G (p.Asn2496Asp)
n.606A>G
c.4498A>G (p.Asn1500Asp)
c.558A>G
c.4630A>G (p.Asn1544Asp)
c.7483A>G (p.Asn2495Asp)
c.7357A>G (p.Asn2453Asp)
c.4129A>G (p.Asn1377Asp)
c.2059A>G (p.Asn687Asp)
c.7168A>G (p.Asn2390Asp)
c.6814A>G (p.Asn2272Asp)
c.4711A>G (p.Asn1571Asp)
n.7661A>G
c.7297A>G (p.Asn2433Asp)
c.6493A>G (p.Asn2165Asp)
c.6298A>G (p.Asn2100Asp)
n.7710A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37165586T>GCA359476325CPLANE1c.7486A>C (p.Asn2496His)
n.606A>C
c.4498A>C (p.Asn1500His)
c.558A>C
c.4630A>C (p.Asn1544His)
c.7483A>C (p.Asn2495His)
c.7357A>C (p.Asn2453His)
c.4129A>C (p.Asn1377His)
c.2059A>C (p.Asn687His)
c.7168A>C (p.Asn2390His)
c.6814A>C (p.Asn2272His)
c.4711A>C (p.Asn1571His)
n.7661A>C
c.7297A>C (p.Asn2433His)
c.6493A>C (p.Asn2165His)
c.6298A>C (p.Asn2100His)
n.7710A>C
5g.37165586T=CA1539664212CPLANE1c.7486A= (p.Asn2496=)
n.606A=
c.4498A= (p.Asn1500=)
c.558A=
c.4630A= (p.Asn1544=)
c.7483A= (p.Asn2495=)
c.7357A= (p.Asn2453=)
c.4129A= (p.Asn1377=)
c.2059A= (p.Asn687=)
c.7168A= (p.Asn2390=)
c.6814A= (p.Asn2272=)
c.4711A= (p.Asn1571=)
n.7661A=
c.7297A= (p.Asn2433=)
c.6493A= (p.Asn2165=)
c.6298A= (p.Asn2100=)
n.7710A=
5g.37165587C>ACA359476327CPLANE1c.7485G>T (p.Glu2495Asp)
n.605G>T
c.4497G>T (p.Glu1499Asp)
c.557G>T
c.4629G>T (p.Glu1543Asp)
c.7482G>T (p.Glu2494Asp)
c.7356G>T (p.Glu2452Asp)
c.4128G>T (p.Glu1376Asp)
c.2058G>T (p.Glu686Asp)
c.7167G>T (p.Glu2389Asp)
c.6813G>T (p.Glu2271Asp)
c.4710G>T (p.Glu1570Asp)
n.7660G>T
c.7296G>T (p.Glu2432Asp)
c.6492G>T (p.Glu2164Asp)
c.6297G>T (p.Glu2099Asp)
n.7709G>T
 ClinVar gnomAD v4
5g.37165587C>GCA359476329CPLANE1c.7485G>C (p.Glu2495Asp)
n.605G>C
c.4497G>C (p.Glu1499Asp)
c.557G>C
c.4629G>C (p.Glu1543Asp)
c.7482G>C (p.Glu2494Asp)
c.7356G>C (p.Glu2452Asp)
c.4128G>C (p.Glu1376Asp)
c.2058G>C (p.Glu686Asp)
c.7167G>C (p.Glu2389Asp)
c.6813G>C (p.Glu2271Asp)
c.4710G>C (p.Glu1570Asp)
n.7660G>C
c.7296G>C (p.Glu2432Asp)
c.6492G>C (p.Glu2164Asp)
c.6297G>C (p.Glu2099Asp)
n.7709G>C
5g.37165587C>TCA443920181CPLANE1c.7485G>A (p.Glu2495=)
n.605G>A
c.4497G>A (p.Glu1499=)
c.557G>A
c.4629G>A (p.Glu1543=)
c.7482G>A (p.Glu2494=)
c.7356G>A (p.Glu2452=)
c.4128G>A (p.Glu1376=)
c.2058G>A (p.Glu686=)
c.7167G>A (p.Glu2389=)
c.6813G>A (p.Glu2271=)
c.4710G>A (p.Glu1570=)
n.7660G>A
c.7296G>A (p.Glu2432=)
c.6492G>A (p.Glu2164=)
c.6297G>A (p.Glu2099=)
n.7709G>A
5g.37165588T>ACA359476334CPLANE1c.7484A>T (p.Glu2495Val)
n.604A>T
c.4496A>T (p.Glu1499Val)
c.556A>T
c.4628A>T (p.Glu1543Val)
c.7481A>T (p.Glu2494Val)
c.7355A>T (p.Glu2452Val)
c.4127A>T (p.Glu1376Val)
c.2057A>T (p.Glu686Val)
c.7166A>T (p.Glu2389Val)
c.6812A>T (p.Glu2271Val)
c.4709A>T (p.Glu1570Val)
n.7659A>T
c.7295A>T (p.Glu2432Val)
c.6491A>T (p.Glu2164Val)
c.6296A>T (p.Glu2099Val)
n.7708A>T
5g.37165588T>CCA359476332CPLANE1c.7484A>G (p.Glu2495Gly)
n.604A>G
c.4496A>G (p.Glu1499Gly)
c.556A>G
c.4628A>G (p.Glu1543Gly)
c.7481A>G (p.Glu2494Gly)
c.7355A>G (p.Glu2452Gly)
c.4127A>G (p.Glu1376Gly)
c.2057A>G (p.Glu686Gly)
c.7166A>G (p.Glu2389Gly)
c.6812A>G (p.Glu2271Gly)
c.4709A>G (p.Glu1570Gly)
n.7659A>G
c.7295A>G (p.Glu2432Gly)
c.6491A>G (p.Glu2164Gly)
c.6296A>G (p.Glu2099Gly)
n.7708A>G
5g.37165588T>GCA359476331CPLANE1c.7484A>C (p.Glu2495Ala)
n.604A>C
c.4496A>C (p.Glu1499Ala)
c.556A>C
c.4628A>C (p.Glu1543Ala)
c.7481A>C (p.Glu2494Ala)
c.7355A>C (p.Glu2452Ala)
c.4127A>C (p.Glu1376Ala)
c.2057A>C (p.Glu686Ala)
c.7166A>C (p.Glu2389Ala)
c.6812A>C (p.Glu2271Ala)
c.4709A>C (p.Glu1570Ala)
n.7659A>C
c.7295A>C (p.Glu2432Ala)
c.6491A>C (p.Glu2164Ala)
c.6296A>C (p.Glu2099Ala)
n.7708A>C
5g.37165589C>ACA359476336CPLANE1c.7483G>T (p.Glu2495Ter)
n.603G>T
c.4495G>T (p.Glu1499Ter)
c.555G>T
c.4627G>T (p.Glu1543Ter)
c.7480G>T (p.Glu2494Ter)
c.7354G>T (p.Glu2452Ter)
c.4126G>T (p.Glu1376Ter)
c.2056G>T (p.Glu686Ter)
c.7165G>T (p.Glu2389Ter)
c.6811G>T (p.Glu2271Ter)
c.4708G>T (p.Glu1570Ter)
n.7658G>T
c.7294G>T (p.Glu2432Ter)
c.6490G>T (p.Glu2164Ter)
c.6295G>T (p.Glu2099Ter)
n.7707G>T
5g.37165589C>GCA359476337CPLANE1c.7483G>C (p.Glu2495Gln)
n.603G>C
c.4495G>C (p.Glu1499Gln)
c.555G>C
c.4627G>C (p.Glu1543Gln)
c.7480G>C (p.Glu2494Gln)
c.7354G>C (p.Glu2452Gln)
c.4126G>C (p.Glu1376Gln)
c.2056G>C (p.Glu686Gln)
c.7165G>C (p.Glu2389Gln)
c.6811G>C (p.Glu2271Gln)
c.4708G>C (p.Glu1570Gln)
n.7658G>C
c.7294G>C (p.Glu2432Gln)
c.6490G>C (p.Glu2164Gln)
c.6295G>C (p.Glu2099Gln)
n.7707G>C
5g.37165589C>TCA359476339CPLANE1c.7483G>A (p.Glu2495Lys)
n.603G>A
c.4495G>A (p.Glu1499Lys)
c.555G>A
c.4627G>A (p.Glu1543Lys)
c.7480G>A (p.Glu2494Lys)
c.7354G>A (p.Glu2452Lys)
c.4126G>A (p.Glu1376Lys)
c.2056G>A (p.Glu686Lys)
c.7165G>A (p.Glu2389Lys)
c.6811G>A (p.Glu2271Lys)
c.4708G>A (p.Glu1570Lys)
n.7658G>A
c.7294G>A (p.Glu2432Lys)
c.6490G>A (p.Glu2164Lys)
c.6295G>A (p.Glu2099Lys)
n.7707G>A
5g.37165590T>ACA443920184CPLANE1c.7482A>T (p.Pro2494=)
n.602A>T
c.4494A>T (p.Pro1498=)
c.554A>T
c.4626A>T (p.Pro1542=)
c.7479A>T (p.Pro2493=)
c.7353A>T (p.Pro2451=)
c.4125A>T (p.Pro1375=)
c.2055A>T (p.Pro685=)
c.7164A>T (p.Pro2388=)
c.6810A>T (p.Pro2270=)
c.4707A>T (p.Pro1569=)
n.7657A>T
c.7293A>T (p.Pro2431=)
c.6489A>T (p.Pro2163=)
c.6294A>T (p.Pro2098=)
n.7706A>T
5g.37165590T>CCA443920185CPLANE1c.7482A>G (p.Pro2494=)
n.602A>G
c.4494A>G (p.Pro1498=)
c.554A>G
c.4626A>G (p.Pro1542=)
c.7479A>G (p.Pro2493=)
c.7353A>G (p.Pro2451=)
c.4125A>G (p.Pro1375=)
c.2055A>G (p.Pro685=)
c.7164A>G (p.Pro2388=)
c.6810A>G (p.Pro2270=)
c.4707A>G (p.Pro1569=)
n.7657A>G
c.7293A>G (p.Pro2431=)
c.6489A>G (p.Pro2163=)
c.6294A>G (p.Pro2098=)
n.7706A>G
5g.37165590T>GCA443920186CPLANE1c.7482A>C (p.Pro2494=)
n.602A>C
c.4494A>C (p.Pro1498=)
c.554A>C
c.4626A>C (p.Pro1542=)
c.7479A>C (p.Pro2493=)
c.7353A>C (p.Pro2451=)
c.4125A>C (p.Pro1375=)
c.2055A>C (p.Pro685=)
c.7164A>C (p.Pro2388=)
c.6810A>C (p.Pro2270=)
c.4707A>C (p.Pro1569=)
n.7657A>C
c.7293A>C (p.Pro2431=)
c.6489A>C (p.Pro2163=)
c.6294A>C (p.Pro2098=)
n.7706A>C
5g.37165591G>ACA359476341CPLANE1c.7481C>T (p.Pro2494Leu)
n.601C>T
c.4493C>T (p.Pro1498Leu)
c.553C>T
c.4625C>T (p.Pro1542Leu)
c.7478C>T (p.Pro2493Leu)
c.7352C>T (p.Pro2451Leu)
c.4124C>T (p.Pro1375Leu)
c.2054C>T (p.Pro685Leu)
c.7163C>T (p.Pro2388Leu)
c.6809C>T (p.Pro2270Leu)
c.4706C>T (p.Pro1569Leu)
n.7656C>T
c.7292C>T (p.Pro2431Leu)
c.6488C>T (p.Pro2163Leu)
c.6293C>T (p.Pro2098Leu)
n.7705C>T
5g.37165591G>CCA359476343CPLANE1c.7481C>G (p.Pro2494Arg)
n.601C>G
c.4493C>G (p.Pro1498Arg)
c.553C>G
c.4625C>G (p.Pro1542Arg)
c.7478C>G (p.Pro2493Arg)
c.7352C>G (p.Pro2451Arg)
c.4124C>G (p.Pro1375Arg)
c.2054C>G (p.Pro685Arg)
c.7163C>G (p.Pro2388Arg)
c.6809C>G (p.Pro2270Arg)
c.4706C>G (p.Pro1569Arg)
n.7656C>G
c.7292C>G (p.Pro2431Arg)
c.6488C>G (p.Pro2163Arg)
c.6293C>G (p.Pro2098Arg)
n.7705C>G
5g.37165591G=CA1539664216CPLANE1c.7481C= (p.Pro2494=)
n.601C=
c.4493C= (p.Pro1498=)
c.553C=
c.4625C= (p.Pro1542=)
c.7478C= (p.Pro2493=)
c.7352C= (p.Pro2451=)
c.4124C= (p.Pro1375=)
c.2054C= (p.Pro685=)
c.7163C= (p.Pro2388=)
c.6809C= (p.Pro2270=)
c.4706C= (p.Pro1569=)
n.7656C=
c.7292C= (p.Pro2431=)
c.6488C= (p.Pro2163=)
c.6293C= (p.Pro2098=)
n.7705C=
5g.37165591G>TCA359476344CPLANE1c.7481C>A (p.Pro2494Gln)
n.601C>A
c.4493C>A (p.Pro1498Gln)
c.553C>A
c.4625C>A (p.Pro1542Gln)
c.7478C>A (p.Pro2493Gln)
c.7352C>A (p.Pro2451Gln)
c.4124C>A (p.Pro1375Gln)
c.2054C>A (p.Pro685Gln)
c.7163C>A (p.Pro2388Gln)
c.6809C>A (p.Pro2270Gln)
c.4706C>A (p.Pro1569Gln)
n.7656C>A
c.7292C>A (p.Pro2431Gln)
c.6488C>A (p.Pro2163Gln)
c.6293C>A (p.Pro2098Gln)
n.7705C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37165592G>ACA359476345CPLANE1c.7480C>T (p.Pro2494Ser)
n.600C>T
c.4492C>T (p.Pro1498Ser)
c.552C>T
c.4624C>T (p.Pro1542Ser)
c.7477C>T (p.Pro2493Ser)
c.7351C>T (p.Pro2451Ser)
c.4123C>T (p.Pro1375Ser)
c.2053C>T (p.Pro685Ser)
c.7162C>T (p.Pro2388Ser)
c.6808C>T (p.Pro2270Ser)
c.4705C>T (p.Pro1569Ser)
n.7655C>T
c.7291C>T (p.Pro2431Ser)
c.6487C>T (p.Pro2163Ser)
c.6292C>T (p.Pro2098Ser)
n.7704C>T
5g.37165592G>CCA359476348CPLANE1c.7480C>G (p.Pro2494Ala)
n.600C>G
c.4492C>G (p.Pro1498Ala)
c.552C>G
c.4624C>G (p.Pro1542Ala)
c.7477C>G (p.Pro2493Ala)
c.7351C>G (p.Pro2451Ala)
c.4123C>G (p.Pro1375Ala)
c.2053C>G (p.Pro685Ala)
c.7162C>G (p.Pro2388Ala)
c.6808C>G (p.Pro2270Ala)
c.4705C>G (p.Pro1569Ala)
n.7655C>G
c.7291C>G (p.Pro2431Ala)
c.6487C>G (p.Pro2163Ala)
c.6292C>G (p.Pro2098Ala)
n.7704C>G
5g.37165592G=CA1539664220CPLANE1c.7480C= (p.Pro2494=)
n.600C=
c.4492C= (p.Pro1498=)
c.552C=
c.4624C= (p.Pro1542=)
c.7477C= (p.Pro2493=)
c.7351C= (p.Pro2451=)
c.4123C= (p.Pro1375=)
c.2053C= (p.Pro685=)
c.7162C= (p.Pro2388=)
c.6808C= (p.Pro2270=)
c.4705C= (p.Pro1569=)
n.7655C=
c.7291C= (p.Pro2431=)
c.6487C= (p.Pro2163=)
c.6292C= (p.Pro2098=)
n.7704C=
5g.37165592G>TCA359476347CPLANE1c.7480C>A (p.Pro2494Thr)
n.600C>A
c.4492C>A (p.Pro1498Thr)
c.552C>A
c.4624C>A (p.Pro1542Thr)
c.7477C>A (p.Pro2493Thr)
c.7351C>A (p.Pro2451Thr)
c.4123C>A (p.Pro1375Thr)
c.2053C>A (p.Pro685Thr)
c.7162C>A (p.Pro2388Thr)
c.6808C>A (p.Pro2270Thr)
c.4705C>A (p.Pro1569Thr)
n.7655C>A
c.7291C>A (p.Pro2431Thr)
c.6487C>A (p.Pro2163Thr)
c.6292C>A (p.Pro2098Thr)
n.7704C>A
 dbSNP gnomAD v3 gnomAD v4
5g.37165593T>ACA3238052CPLANE1c.7479A>T (p.Arg2493=)
n.599A>T
c.4491A>T (p.Arg1497=)
c.551A>T
c.4623A>T (p.Arg1541=)
c.7476A>T (p.Arg2492=)
c.7350A>T (p.Arg2450=)
c.4122A>T (p.Arg1374=)
c.2052A>T (p.Arg684=)
c.7161A>T (p.Arg2387=)
c.6807A>T (p.Arg2269=)
c.4704A>T (p.Arg1568=)
n.7654A>T
c.7290A>T (p.Arg2430=)
c.6486A>T (p.Arg2162=)
c.6291A>T (p.Arg2097=)
n.7703A>T
 dbSNP ExAC gnomAD v2
5g.37165593T>CCA443920187CPLANE1c.7479A>G (p.Arg2493=)
n.599A>G
c.4491A>G (p.Arg1497=)
c.551A>G
c.4623A>G (p.Arg1541=)
c.7476A>G (p.Arg2492=)
c.7350A>G (p.Arg2450=)
c.4122A>G (p.Arg1374=)
c.2052A>G (p.Arg684=)
c.7161A>G (p.Arg2387=)
c.6807A>G (p.Arg2269=)
c.4704A>G (p.Arg1568=)
n.7654A>G
c.7290A>G (p.Arg2430=)
c.6486A>G (p.Arg2162=)
c.6291A>G (p.Arg2097=)
n.7703A>G
5g.37165593T>GCA443920188CPLANE1c.7479A>C (p.Arg2493=)
n.599A>C
c.4491A>C (p.Arg1497=)
c.551A>C
c.4623A>C (p.Arg1541=)
c.7476A>C (p.Arg2492=)
c.7350A>C (p.Arg2450=)
c.4122A>C (p.Arg1374=)
c.2052A>C (p.Arg684=)
c.7161A>C (p.Arg2387=)
c.6807A>C (p.Arg2269=)
c.4704A>C (p.Arg1568=)
n.7654A>C
c.7290A>C (p.Arg2430=)
c.6486A>C (p.Arg2162=)
c.6291A>C (p.Arg2097=)
n.7703A>C
5g.37165593T=CA1539664222CPLANE1c.7479A= (p.Arg2493=)
n.599A=
c.4491A= (p.Arg1497=)
c.551A=
c.4623A= (p.Arg1541=)
c.7476A= (p.Arg2492=)
c.7350A= (p.Arg2450=)
c.4122A= (p.Arg1374=)
c.2052A= (p.Arg684=)
c.7161A= (p.Arg2387=)
c.6807A= (p.Arg2269=)
c.4704A= (p.Arg1568=)
n.7654A=
c.7290A= (p.Arg2430=)
c.6486A= (p.Arg2162=)
c.6291A= (p.Arg2097=)
n.7703A=
5g.37165594C>ACA10624459CPLANE1c.7478G>T (p.Arg2493Leu)
n.598G>T
c.4490G>T (p.Arg1497Leu)
c.550G>T
c.4622G>T (p.Arg1541Leu)
c.7475G>T (p.Arg2492Leu)
c.7349G>T (p.Arg2450Leu)
c.4121G>T (p.Arg1374Leu)
c.2051G>T (p.Arg684Leu)
c.7160G>T (p.Arg2387Leu)
c.6806G>T (p.Arg2269Leu)
c.4703G>T (p.Arg1568Leu)
n.7653G>T
c.7289G>T (p.Arg2430Leu)
c.6485G>T (p.Arg2162Leu)
c.6290G>T (p.Arg2097Leu)
n.7702G>T
 ClinVar dbSNP gnomAD v4
5g.37165594C=CA1539664229CPLANE1c.7478G= (p.Arg2493=)
n.598G=
c.4490G= (p.Arg1497=)
c.550G=
c.4622G= (p.Arg1541=)
c.7475G= (p.Arg2492=)
c.7349G= (p.Arg2450=)
c.4121G= (p.Arg1374=)
c.2051G= (p.Arg684=)
c.7160G= (p.Arg2387=)
c.6806G= (p.Arg2269=)
c.4703G= (p.Arg1568=)
n.7653G=
c.7289G= (p.Arg2430=)
c.6485G= (p.Arg2162=)
c.6290G= (p.Arg2097=)
n.7702G=
5g.37165594C>GCA359476350CPLANE1c.7478G>C (p.Arg2493Pro)
n.598G>C
c.4490G>C (p.Arg1497Pro)
c.550G>C
c.4622G>C (p.Arg1541Pro)
c.7475G>C (p.Arg2492Pro)
c.7349G>C (p.Arg2450Pro)
c.4121G>C (p.Arg1374Pro)
c.2051G>C (p.Arg684Pro)
c.7160G>C (p.Arg2387Pro)
c.6806G>C (p.Arg2269Pro)
c.4703G>C (p.Arg1568Pro)
n.7653G>C
c.7289G>C (p.Arg2430Pro)
c.6485G>C (p.Arg2162Pro)
c.6290G>C (p.Arg2097Pro)
n.7702G>C
 gnomAD v4
5g.37165594C>TCA3238053CPLANE1c.7478G>A (p.Arg2493Gln)
n.598G>A
c.4490G>A (p.Arg1497Gln)
c.550G>A
c.4622G>A (p.Arg1541Gln)
c.7475G>A (p.Arg2492Gln)
c.7349G>A (p.Arg2450Gln)
c.4121G>A (p.Arg1374Gln)
c.2051G>A (p.Arg684Gln)
c.7160G>A (p.Arg2387Gln)
c.6806G>A (p.Arg2269Gln)
c.4703G>A (p.Arg1568Gln)
n.7653G>A
c.7289G>A (p.Arg2430Gln)
c.6485G>A (p.Arg2162Gln)
c.6290G>A (p.Arg2097Gln)
n.7702G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37165595G>ACA342796CPLANE1c.7477C>T (p.Arg2493Ter)
n.597C>T
c.4489C>T (p.Arg1497Ter)
c.549C>T
c.4621C>T (p.Arg1541Ter)
c.7474C>T (p.Arg2492Ter)
c.7348C>T (p.Arg2450Ter)
c.4120C>T (p.Arg1374Ter)
c.2050C>T (p.Arg684Ter)
c.7159C>T (p.Arg2387Ter)
c.6805C>T (p.Arg2269Ter)
c.4702C>T (p.Arg1568Ter)
n.7652C>T
c.7288C>T (p.Arg2430Ter)
c.6484C>T (p.Arg2162Ter)
c.6289C>T (p.Arg2097Ter)
n.7701C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37165595G>CCA359476354CPLANE1c.7477C>G (p.Arg2493Gly)
n.597C>G
c.4489C>G (p.Arg1497Gly)
c.549C>G
c.4621C>G (p.Arg1541Gly)
c.7474C>G (p.Arg2492Gly)
c.7348C>G (p.Arg2450Gly)
c.4120C>G (p.Arg1374Gly)
c.2050C>G (p.Arg684Gly)
c.7159C>G (p.Arg2387Gly)
c.6805C>G (p.Arg2269Gly)
c.4702C>G (p.Arg1568Gly)
n.7652C>G
c.7288C>G (p.Arg2430Gly)
c.6484C>G (p.Arg2162Gly)
c.6289C>G (p.Arg2097Gly)
n.7701C>G
5g.37165595G=CA1539664241CPLANE1c.7477C= (p.Arg2493=)
n.597C=
c.4489C= (p.Arg1497=)
c.549C=
c.4621C= (p.Arg1541=)
c.7474C= (p.Arg2492=)
c.7348C= (p.Arg2450=)
c.4120C= (p.Arg1374=)
c.2050C= (p.Arg684=)
c.7159C= (p.Arg2387=)
c.6805C= (p.Arg2269=)
c.4702C= (p.Arg1568=)
n.7652C=
c.7288C= (p.Arg2430=)
c.6484C= (p.Arg2162=)
c.6289C= (p.Arg2097=)
n.7701C=
5g.37165595G>TCA443920189CPLANE1c.7477C>A (p.Arg2493=)
n.597C>A
c.4489C>A (p.Arg1497=)
c.549C>A
c.4621C>A (p.Arg1541=)
c.7474C>A (p.Arg2492=)
c.7348C>A (p.Arg2450=)
c.4120C>A (p.Arg1374=)
c.2050C>A (p.Arg684=)
c.7159C>A (p.Arg2387=)
c.6805C>A (p.Arg2269=)
c.4702C>A (p.Arg1568=)
n.7652C>A
c.7288C>A (p.Arg2430=)
c.6484C>A (p.Arg2162=)
c.6289C>A (p.Arg2097=)
n.7701C>A
5g.37165595_37165596delinsGACA1539664244CPLANE1c.7476_7477delinsTC (p.Phe2492=)
n.596_597delinsTC
c.4488_4489delinsTC (p.Phe1496=)
c.548_549delinsTC
c.4620_4621delinsTC (p.Phe1540=)
c.7473_7474delinsTC (p.Phe2491=)
c.7347_7348delinsTC (p.Phe2449=)
c.4119_4120delinsTC (p.Phe1373=)
c.2049_2050delinsTC (p.Phe683=)
c.7158_7159delinsTC (p.Phe2386=)
c.6804_6805delinsTC (p.Phe2268=)
c.4701_4702delinsTC (p.Phe1567=)
n.7651_7652delinsTC
c.7287_7288delinsTC (p.Phe2429=)
c.6483_6484delinsTC (p.Phe2161=)
c.6288_6289delinsTC (p.Phe2096=)
n.7700_7701delinsTC
5g.37165596A=CA1539664248CPLANE1c.7476T= (p.Phe2492=)
n.596T=
c.4488T= (p.Phe1496=)
c.548T=
c.4620T= (p.Phe1540=)
c.7473T= (p.Phe2491=)
c.7347T= (p.Phe2449=)
c.4119T= (p.Phe1373=)
c.2049T= (p.Phe683=)
c.7158T= (p.Phe2386=)
c.6804T= (p.Phe2268=)
c.4701T= (p.Phe1567=)
n.7651T=
c.7287T= (p.Phe2429=)
c.6483T= (p.Phe2161=)
c.6288T= (p.Phe2096=)
n.7700T=
5g.37165596A>CCA359476355CPLANE1c.7476T>G (p.Phe2492Leu)
n.596T>G
c.4488T>G (p.Phe1496Leu)
c.548T>G
c.4620T>G (p.Phe1540Leu)
c.7473T>G (p.Phe2491Leu)
c.7347T>G (p.Phe2449Leu)
c.4119T>G (p.Phe1373Leu)
c.2049T>G (p.Phe683Leu)
c.7158T>G (p.Phe2386Leu)
c.6804T>G (p.Phe2268Leu)
c.4701T>G (p.Phe1567Leu)
n.7651T>G
c.7287T>G (p.Phe2429Leu)
c.6483T>G (p.Phe2161Leu)
c.6288T>G (p.Phe2096Leu)
n.7700T>G
5g.37165596A>GCA117051710CPLANE1c.7476T>C (p.Phe2492=)
n.596T>C
c.4488T>C (p.Phe1496=)
c.548T>C
c.4620T>C (p.Phe1540=)
c.7473T>C (p.Phe2491=)
c.7347T>C (p.Phe2449=)
c.4119T>C (p.Phe1373=)
c.2049T>C (p.Phe683=)
c.7158T>C (p.Phe2386=)
c.6804T>C (p.Phe2268=)
c.4701T>C (p.Phe1567=)
n.7651T>C
c.7287T>C (p.Phe2429=)
c.6483T>C (p.Phe2161=)
c.6288T>C (p.Phe2096=)
n.7700T>C
 dbSNP gnomAD v2 gnomAD v4
5g.37165596A>TCA359476357CPLANE1c.7476T>A (p.Phe2492Leu)
n.596T>A
c.4488T>A (p.Phe1496Leu)
c.548T>A
c.4620T>A (p.Phe1540Leu)
c.7473T>A (p.Phe2491Leu)
c.7347T>A (p.Phe2449Leu)
c.4119T>A (p.Phe1373Leu)
c.2049T>A (p.Phe683Leu)
c.7158T>A (p.Phe2386Leu)
c.6804T>A (p.Phe2268Leu)
c.4701T>A (p.Phe1567Leu)
n.7651T>A
c.7287T>A (p.Phe2429Leu)
c.6483T>A (p.Phe2161Leu)
c.6288T>A (p.Phe2096Leu)
n.7700T>A
5g.37165599delCA117051705CPLANE1c.7476del (p.Arg2493AspfsTer6)
n.596del
c.4488del (p.Arg1497AspfsTer6)
c.548del
c.4620del (p.Arg1541AspfsTer6)
c.7473del (p.Arg2492AspfsTer6)
c.7347del (p.Arg2450AspfsTer6)
c.4119del (p.Arg1374AspfsTer6)
c.2049del (p.Arg684AspfsTer6)
c.7158del (p.Arg2387AspfsTer6)
c.6804del (p.Arg2269AspfsTer6)
c.4701del (p.Arg1568AspfsTer6)
n.7651del
c.7287del (p.Arg2430AspfsTer6)
c.6483del (p.Arg2162AspfsTer6)
c.6288del (p.Arg2097AspfsTer6)
n.7700del
 dbSNP gnomAD v4
5g.37165597A>CCA359476360CPLANE1c.7475T>G (p.Phe2492Cys)
n.595T>G
c.4487T>G (p.Phe1496Cys)
c.547T>G
c.4619T>G (p.Phe1540Cys)
c.7472T>G (p.Phe2491Cys)
c.7346T>G (p.Phe2449Cys)
c.4118T>G (p.Phe1373Cys)
c.2048T>G (p.Phe683Cys)
c.7157T>G (p.Phe2386Cys)
c.6803T>G (p.Phe2268Cys)
c.4700T>G (p.Phe1567Cys)
n.7650T>G
c.7286T>G (p.Phe2429Cys)
c.6482T>G (p.Phe2161Cys)
c.6287T>G (p.Phe2096Cys)
n.7699T>G
 gnomAD v4
5g.37165597A>GCA359476361CPLANE1c.7475T>C (p.Phe2492Ser)
n.595T>C
c.4487T>C (p.Phe1496Ser)
c.547T>C
c.4619T>C (p.Phe1540Ser)
c.7472T>C (p.Phe2491Ser)
c.7346T>C (p.Phe2449Ser)
c.4118T>C (p.Phe1373Ser)
c.2048T>C (p.Phe683Ser)
c.7157T>C (p.Phe2386Ser)
c.6803T>C (p.Phe2268Ser)
c.4700T>C (p.Phe1567Ser)
n.7650T>C
c.7286T>C (p.Phe2429Ser)
c.6482T>C (p.Phe2161Ser)
c.6287T>C (p.Phe2096Ser)
n.7699T>C
5g.37165597A>TCA359476363CPLANE1c.7475T>A (p.Phe2492Tyr)
n.595T>A
c.4487T>A (p.Phe1496Tyr)
c.547T>A
c.4619T>A (p.Phe1540Tyr)
c.7472T>A (p.Phe2491Tyr)
c.7346T>A (p.Phe2449Tyr)
c.4118T>A (p.Phe1373Tyr)
c.2048T>A (p.Phe683Tyr)
c.7157T>A (p.Phe2386Tyr)
c.6803T>A (p.Phe2268Tyr)
c.4700T>A (p.Phe1567Tyr)
n.7650T>A
c.7286T>A (p.Phe2429Tyr)
c.6482T>A (p.Phe2161Tyr)
c.6287T>A (p.Phe2096Tyr)
n.7699T>A
5g.37165598A>CCA359476366CPLANE1c.7474T>G (p.Phe2492Val)
n.594T>G
c.4486T>G (p.Phe1496Val)
c.546T>G
c.4618T>G (p.Phe1540Val)
c.7471T>G (p.Phe2491Val)
c.7345T>G (p.Phe2449Val)
c.4117T>G (p.Phe1373Val)
c.2047T>G (p.Phe683Val)
c.7156T>G (p.Phe2386Val)
c.6802T>G (p.Phe2268Val)
c.4699T>G (p.Phe1567Val)
n.7649T>G
c.7285T>G (p.Phe2429Val)
c.6481T>G (p.Phe2161Val)
c.6286T>G (p.Phe2096Val)
n.7698T>G
5g.37165598A>GCA359476367CPLANE1c.7474T>C (p.Phe2492Leu)
n.594T>C
c.4486T>C (p.Phe1496Leu)
c.546T>C
c.4618T>C (p.Phe1540Leu)
c.7471T>C (p.Phe2491Leu)
c.7345T>C (p.Phe2449Leu)
c.4117T>C (p.Phe1373Leu)
c.2047T>C (p.Phe683Leu)
c.7156T>C (p.Phe2386Leu)
c.6802T>C (p.Phe2268Leu)
c.4699T>C (p.Phe1567Leu)
n.7649T>C
c.7285T>C (p.Phe2429Leu)
c.6481T>C (p.Phe2161Leu)
c.6286T>C (p.Phe2096Leu)
n.7698T>C
5g.37165598A>TCA359476364CPLANE1c.7474T>A (p.Phe2492Ile)
n.594T>A
c.4486T>A (p.Phe1496Ile)
c.546T>A
c.4618T>A (p.Phe1540Ile)
c.7471T>A (p.Phe2491Ile)
c.7345T>A (p.Phe2449Ile)
c.4117T>A (p.Phe1373Ile)
c.2047T>A (p.Phe683Ile)
c.7156T>A (p.Phe2386Ile)
c.6802T>A (p.Phe2268Ile)
c.4699T>A (p.Phe1567Ile)
n.7649T>A
c.7285T>A (p.Phe2429Ile)
c.6481T>A (p.Phe2161Ile)
c.6286T>A (p.Phe2096Ile)
n.7698T>A
5g.37165599A>CCA443920190CPLANE1c.7473T>G (p.Thr2491=)
n.593T>G
c.4485T>G (p.Thr1495=)
c.545T>G
c.4617T>G (p.Thr1539=)
c.7470T>G (p.Thr2490=)
c.7344T>G (p.Thr2448=)
c.4116T>G (p.Thr1372=)
c.2046T>G (p.Thr682=)
c.7155T>G (p.Thr2385=)
c.6801T>G (p.Thr2267=)
c.4698T>G (p.Thr1566=)
n.7648T>G
c.7284T>G (p.Thr2428=)
c.6480T>G (p.Thr2160=)
c.6285T>G (p.Thr2095=)
n.7697T>G
5g.37165599A>GCA443920191CPLANE1c.7473T>C (p.Thr2491=)
n.593T>C
c.4485T>C (p.Thr1495=)
c.545T>C
c.4617T>C (p.Thr1539=)
c.7470T>C (p.Thr2490=)
c.7344T>C (p.Thr2448=)
c.4116T>C (p.Thr1372=)
c.2046T>C (p.Thr682=)
c.7155T>C (p.Thr2385=)
c.6801T>C (p.Thr2267=)
c.4698T>C (p.Thr1566=)
n.7648T>C
c.7284T>C (p.Thr2428=)
c.6480T>C (p.Thr2160=)
c.6285T>C (p.Thr2095=)
n.7697T>C
5g.37165599A>TCA443920192CPLANE1c.7473T>A (p.Thr2491=)
n.593T>A
c.4485T>A (p.Thr1495=)
c.545T>A
c.4617T>A (p.Thr1539=)
c.7470T>A (p.Thr2490=)
c.7344T>A (p.Thr2448=)
c.4116T>A (p.Thr1372=)
c.2046T>A (p.Thr682=)
c.7155T>A (p.Thr2385=)
c.6801T>A (p.Thr2267=)
c.4698T>A (p.Thr1566=)
n.7648T>A
c.7284T>A (p.Thr2428=)
c.6480T>A (p.Thr2160=)
c.6285T>A (p.Thr2095=)
n.7697T>A
5g.37165600G>ACA359476371CPLANE1c.7472C>T (p.Thr2491Ile)
n.592C>T
c.4484C>T (p.Thr1495Ile)
c.544C>T
c.4616C>T (p.Thr1539Ile)
c.7469C>T (p.Thr2490Ile)
c.7343C>T (p.Thr2448Ile)
c.4115C>T (p.Thr1372Ile)
c.2045C>T (p.Thr682Ile)
c.7154C>T (p.Thr2385Ile)
c.6800C>T (p.Thr2267Ile)
c.4697C>T (p.Thr1566Ile)
n.7647C>T
c.7283C>T (p.Thr2428Ile)
c.6479C>T (p.Thr2160Ile)
c.6284C>T (p.Thr2095Ile)
n.7696C>T
5g.37165600G>CCA359476369CPLANE1c.7472C>G (p.Thr2491Ser)
n.592C>G
c.4484C>G (p.Thr1495Ser)
c.544C>G
c.4616C>G (p.Thr1539Ser)
c.7469C>G (p.Thr2490Ser)
c.7343C>G (p.Thr2448Ser)
c.4115C>G (p.Thr1372Ser)
c.2045C>G (p.Thr682Ser)
c.7154C>G (p.Thr2385Ser)
c.6800C>G (p.Thr2267Ser)
c.4697C>G (p.Thr1566Ser)
n.7647C>G
c.7283C>G (p.Thr2428Ser)
c.6479C>G (p.Thr2160Ser)
c.6284C>G (p.Thr2095Ser)
n.7696C>G
5g.37165600G>TCA359476373CPLANE1c.7472C>A (p.Thr2491Asn)
n.592C>A
c.4484C>A (p.Thr1495Asn)
c.544C>A
c.4616C>A (p.Thr1539Asn)
c.7469C>A (p.Thr2490Asn)
c.7343C>A (p.Thr2448Asn)
c.4115C>A (p.Thr1372Asn)
c.2045C>A (p.Thr682Asn)
c.7154C>A (p.Thr2385Asn)
c.6800C>A (p.Thr2267Asn)
c.4697C>A (p.Thr1566Asn)
n.7647C>A
c.7283C>A (p.Thr2428Asn)
c.6479C>A (p.Thr2160Asn)
c.6284C>A (p.Thr2095Asn)
n.7696C>A
 gnomAD v4
5g.37165601T>ACA359476374CPLANE1c.7471A>T (p.Thr2491Ser)
n.591A>T
c.4483A>T (p.Thr1495Ser)
c.543A>T
c.4615A>T (p.Thr1539Ser)
c.7468A>T (p.Thr2490Ser)
c.7342A>T (p.Thr2448Ser)
c.4114A>T (p.Thr1372Ser)
c.2044A>T (p.Thr682Ser)
c.7153A>T (p.Thr2385Ser)
c.6799A>T (p.Thr2267Ser)
c.4696A>T (p.Thr1566Ser)
n.7646A>T
c.7282A>T (p.Thr2428Ser)
c.6478A>T (p.Thr2160Ser)
c.6283A>T (p.Thr2095Ser)
n.7695A>T
5g.37165601T>CCA359476376CPLANE1c.7471A>G (p.Thr2491Ala)
n.591A>G
c.4483A>G (p.Thr1495Ala)
c.543A>G
c.4615A>G (p.Thr1539Ala)
c.7468A>G (p.Thr2490Ala)
c.7342A>G (p.Thr2448Ala)
c.4114A>G (p.Thr1372Ala)
c.2044A>G (p.Thr682Ala)
c.7153A>G (p.Thr2385Ala)
c.6799A>G (p.Thr2267Ala)
c.4696A>G (p.Thr1566Ala)
n.7646A>G
c.7282A>G (p.Thr2428Ala)
c.6478A>G (p.Thr2160Ala)
c.6283A>G (p.Thr2095Ala)
n.7695A>G
 gnomAD v4
5g.37165601T>GCA359476377CPLANE1c.7471A>C (p.Thr2491Pro)
n.591A>C
c.4483A>C (p.Thr1495Pro)
c.543A>C
c.4615A>C (p.Thr1539Pro)
c.7468A>C (p.Thr2490Pro)
c.7342A>C (p.Thr2448Pro)
c.4114A>C (p.Thr1372Pro)
c.2044A>C (p.Thr682Pro)
c.7153A>C (p.Thr2385Pro)
c.6799A>C (p.Thr2267Pro)
c.4696A>C (p.Thr1566Pro)
n.7646A>C
c.7282A>C (p.Thr2428Pro)
c.6478A>C (p.Thr2160Pro)
c.6283A>C (p.Thr2095Pro)
n.7695A>C
5g.37165602C>ACA443920193CPLANE1c.7470G>T (p.Val2490=)
n.590G>T
c.4482G>T (p.Val1494=)
c.542G>T
c.4614G>T (p.Val1538=)
c.7467G>T (p.Val2489=)
c.7341G>T (p.Val2447=)
c.4113G>T (p.Val1371=)
c.2043G>T (p.Val681=)
c.7152G>T (p.Val2384=)
c.6798G>T (p.Val2266=)
c.4695G>T (p.Val1565=)
n.7645G>T
c.7281G>T (p.Val2427=)
c.6477G>T (p.Val2159=)
c.6282G>T (p.Val2094=)
n.7694G>T
5g.37165602C>GCA443920194CPLANE1c.7470G>C (p.Val2490=)
n.590G>C
c.4482G>C (p.Val1494=)
c.542G>C
c.4614G>C (p.Val1538=)
c.7467G>C (p.Val2489=)
c.7341G>C (p.Val2447=)
c.4113G>C (p.Val1371=)
c.2043G>C (p.Val681=)
c.7152G>C (p.Val2384=)
c.6798G>C (p.Val2266=)
c.4695G>C (p.Val1565=)
n.7645G>C
c.7281G>C (p.Val2427=)
c.6477G>C (p.Val2159=)
c.6282G>C (p.Val2094=)
n.7694G>C
5g.37165602C>TCA443920195CPLANE1c.7470G>A (p.Val2490=)
n.590G>A
c.4482G>A (p.Val1494=)
c.542G>A
c.4614G>A (p.Val1538=)
c.7467G>A (p.Val2489=)
c.7341G>A (p.Val2447=)
c.4113G>A (p.Val1371=)
c.2043G>A (p.Val681=)
c.7152G>A (p.Val2384=)
c.6798G>A (p.Val2266=)
c.4695G>A (p.Val1565=)
n.7645G>A
c.7281G>A (p.Val2427=)
c.6477G>A (p.Val2159=)
c.6282G>A (p.Val2094=)
n.7694G>A
5g.37165603A>CCA359476379CPLANE1c.7469T>G (p.Val2490Gly)
n.589T>G
c.4481T>G (p.Val1494Gly)
c.541T>G
c.4613T>G (p.Val1538Gly)
c.7466T>G (p.Val2489Gly)
c.7340T>G (p.Val2447Gly)
c.4112T>G (p.Val1371Gly)
c.2042T>G (p.Val681Gly)
c.7151T>G (p.Val2384Gly)
c.6797T>G (p.Val2266Gly)
c.4694T>G (p.Val1565Gly)
n.7644T>G
c.7280T>G (p.Val2427Gly)
c.6476T>G (p.Val2159Gly)
c.6281T>G (p.Val2094Gly)
n.7693T>G
5g.37165603A>GCA359476381CPLANE1c.7469T>C (p.Val2490Ala)
n.589T>C
c.4481T>C (p.Val1494Ala)
c.541T>C
c.4613T>C (p.Val1538Ala)
c.7466T>C (p.Val2489Ala)
c.7340T>C (p.Val2447Ala)
c.4112T>C (p.Val1371Ala)
c.2042T>C (p.Val681Ala)
c.7151T>C (p.Val2384Ala)
c.6797T>C (p.Val2266Ala)
c.4694T>C (p.Val1565Ala)
n.7644T>C
c.7280T>C (p.Val2427Ala)
c.6476T>C (p.Val2159Ala)
c.6281T>C (p.Val2094Ala)
n.7693T>C
5g.37165603A>TCA359476382CPLANE1c.7469T>A (p.Val2490Glu)
n.589T>A
c.4481T>A (p.Val1494Glu)
c.541T>A
c.4613T>A (p.Val1538Glu)
c.7466T>A (p.Val2489Glu)
c.7340T>A (p.Val2447Glu)
c.4112T>A (p.Val1371Glu)
c.2042T>A (p.Val681Glu)
c.7151T>A (p.Val2384Glu)
c.6797T>A (p.Val2266Glu)
c.4694T>A (p.Val1565Glu)
n.7644T>A
c.7280T>A (p.Val2427Glu)
c.6476T>A (p.Val2159Glu)
c.6281T>A (p.Val2094Glu)
n.7693T>A
5g.37165604C>ACA359476384CPLANE1c.7468G>T (p.Val2490Leu)
n.588G>T
c.4480G>T (p.Val1494Leu)
c.540G>T
c.4612G>T (p.Val1538Leu)
c.7465G>T (p.Val2489Leu)
c.7339G>T (p.Val2447Leu)
c.4111G>T (p.Val1371Leu)
c.2041G>T (p.Val681Leu)
c.7150G>T (p.Val2384Leu)
c.6796G>T (p.Val2266Leu)
c.4693G>T (p.Val1565Leu)
n.7643G>T
c.7279G>T (p.Val2427Leu)
c.6475G>T (p.Val2159Leu)
c.6280G>T (p.Val2094Leu)
n.7692G>T
5g.37165604C>GCA359476386CPLANE1c.7468G>C (p.Val2490Leu)
n.588G>C
c.4480G>C (p.Val1494Leu)
c.540G>C
c.4612G>C (p.Val1538Leu)
c.7465G>C (p.Val2489Leu)
c.7339G>C (p.Val2447Leu)
c.4111G>C (p.Val1371Leu)
c.2041G>C (p.Val681Leu)
c.7150G>C (p.Val2384Leu)
c.6796G>C (p.Val2266Leu)
c.4693G>C (p.Val1565Leu)
n.7643G>C
c.7279G>C (p.Val2427Leu)
c.6475G>C (p.Val2159Leu)
c.6280G>C (p.Val2094Leu)
n.7692G>C
5g.37165604C>TCA359476387CPLANE1c.7468G>A (p.Val2490Met)
n.588G>A
c.4480G>A (p.Val1494Met)
c.540G>A
c.4612G>A (p.Val1538Met)
c.7465G>A (p.Val2489Met)
c.7339G>A (p.Val2447Met)
c.4111G>A (p.Val1371Met)
c.2041G>A (p.Val681Met)
c.7150G>A (p.Val2384Met)
c.6796G>A (p.Val2266Met)
c.4693G>A (p.Val1565Met)
n.7643G>A
c.7279G>A (p.Val2427Met)
c.6475G>A (p.Val2159Met)
c.6280G>A (p.Val2094Met)
n.7692G>A
5g.37165605A=CA1539664251CPLANE1c.7467T= (p.Asn2489=)
n.587T=
c.4479T= (p.Asn1493=)
c.539T=
c.4611T= (p.Asn1537=)
c.7464T= (p.Asn2488=)
c.7338T= (p.Asn2446=)
c.4110T= (p.Asn1370=)
c.2040T= (p.Asn680=)
c.7149T= (p.Asn2383=)
c.6795T= (p.Asn2265=)
c.4692T= (p.Asn1564=)
n.7642T=
c.7278T= (p.Asn2426=)
c.6474T= (p.Asn2158=)
c.6279T= (p.Asn2093=)
n.7691T=
5g.37165605A>CCA117051731CPLANE1c.7467T>G (p.Asn2489Lys)
n.587T>G
c.4479T>G (p.Asn1493Lys)
c.539T>G
c.4611T>G (p.Asn1537Lys)
c.7464T>G (p.Asn2488Lys)
c.7338T>G (p.Asn2446Lys)
c.4110T>G (p.Asn1370Lys)
c.2040T>G (p.Asn680Lys)
c.7149T>G (p.Asn2383Lys)
c.6795T>G (p.Asn2265Lys)
c.4692T>G (p.Asn1564Lys)
n.7642T>G
c.7278T>G (p.Asn2426Lys)
c.6474T>G (p.Asn2158Lys)
c.6279T>G (p.Asn2093Lys)
n.7691T>G
 dbSNP gnomAD v3 gnomAD v4
5g.37165605A>GCA443920196CPLANE1c.7467T>C (p.Asn2489=)
n.587T>C
c.4479T>C (p.Asn1493=)
c.539T>C
c.4611T>C (p.Asn1537=)
c.7464T>C (p.Asn2488=)
c.7338T>C (p.Asn2446=)
c.4110T>C (p.Asn1370=)
c.2040T>C (p.Asn680=)
c.7149T>C (p.Asn2383=)
c.6795T>C (p.Asn2265=)
c.4692T>C (p.Asn1564=)
n.7642T>C
c.7278T>C (p.Asn2426=)
c.6474T>C (p.Asn2158=)
c.6279T>C (p.Asn2093=)
n.7691T>C
5g.37165605A>TCA359476389CPLANE1c.7467T>A (p.Asn2489Lys)
n.587T>A
c.4479T>A (p.Asn1493Lys)
c.539T>A
c.4611T>A (p.Asn1537Lys)
c.7464T>A (p.Asn2488Lys)
c.7338T>A (p.Asn2446Lys)
c.4110T>A (p.Asn1370Lys)
c.2040T>A (p.Asn680Lys)
c.7149T>A (p.Asn2383Lys)
c.6795T>A (p.Asn2265Lys)
c.4692T>A (p.Asn1564Lys)
n.7642T>A
c.7278T>A (p.Asn2426Lys)
c.6474T>A (p.Asn2158Lys)
c.6279T>A (p.Asn2093Lys)
n.7691T>A
5g.37165606T>ACA359476394CPLANE1c.7466A>T (p.Asn2489Ile)
n.586A>T
c.4478A>T (p.Asn1493Ile)
c.538A>T
c.4610A>T (p.Asn1537Ile)
c.7463A>T (p.Asn2488Ile)
c.7337A>T (p.Asn2446Ile)
c.4109A>T (p.Asn1370Ile)
c.2039A>T (p.Asn680Ile)
c.7148A>T (p.Asn2383Ile)
c.6794A>T (p.Asn2265Ile)
c.4691A>T (p.Asn1564Ile)
n.7641A>T
c.7277A>T (p.Asn2426Ile)
c.6473A>T (p.Asn2158Ile)
c.6278A>T (p.Asn2093Ile)
n.7690A>T
5g.37165606T>CCA359476391CPLANE1c.7466A>G (p.Asn2489Ser)
n.586A>G
c.4478A>G (p.Asn1493Ser)
c.538A>G
c.4610A>G (p.Asn1537Ser)
c.7463A>G (p.Asn2488Ser)
c.7337A>G (p.Asn2446Ser)
c.4109A>G (p.Asn1370Ser)
c.2039A>G (p.Asn680Ser)
c.7148A>G (p.Asn2383Ser)
c.6794A>G (p.Asn2265Ser)
c.4691A>G (p.Asn1564Ser)
n.7641A>G
c.7277A>G (p.Asn2426Ser)
c.6473A>G (p.Asn2158Ser)
c.6278A>G (p.Asn2093Ser)
n.7690A>G
5g.37165606T>GCA359476393CPLANE1c.7466A>C (p.Asn2489Thr)
n.586A>C
c.4478A>C (p.Asn1493Thr)
c.538A>C
c.4610A>C (p.Asn1537Thr)
c.7463A>C (p.Asn2488Thr)
c.7337A>C (p.Asn2446Thr)
c.4109A>C (p.Asn1370Thr)
c.2039A>C (p.Asn680Thr)
c.7148A>C (p.Asn2383Thr)
c.6794A>C (p.Asn2265Thr)
c.4691A>C (p.Asn1564Thr)
n.7641A>C
c.7277A>C (p.Asn2426Thr)
c.6473A>C (p.Asn2158Thr)
c.6278A>C (p.Asn2093Thr)
n.7690A>C
5g.37165608delCA2573139639CPLANE1c.7466del (p.Asn2489MetfsTer2)
n.586del
c.4478del (p.Asn1493MetfsTer2)
c.538del
c.4610del (p.Asn1537MetfsTer2)
c.7463del (p.Asn2488MetfsTer2)
c.7337del (p.Asn2446MetfsTer2)
c.4109del (p.Asn1370MetfsTer2)
c.2039del (p.Asn680MetfsTer2)
c.7148del (p.Asn2383MetfsTer2)
c.6794del (p.Asn2265MetfsTer2)
c.4691del (p.Asn1564MetfsTer2)
n.7641del
c.7277del (p.Asn2426MetfsTer2)
c.6473del (p.Asn2158MetfsTer2)
c.6278del (p.Asn2093MetfsTer2)
n.7690del
 ClinVar dbSNP
5g.37165607T>ACA359476396CPLANE1c.7465A>T (p.Asn2489Tyr)
n.585A>T
c.4477A>T (p.Asn1493Tyr)
c.537A>T
c.4609A>T (p.Asn1537Tyr)
c.7462A>T (p.Asn2488Tyr)
c.7336A>T (p.Asn2446Tyr)
c.4108A>T (p.Asn1370Tyr)
c.2038A>T (p.Asn680Tyr)
c.7147A>T (p.Asn2383Tyr)
c.6793A>T (p.Asn2265Tyr)
c.4690A>T (p.Asn1564Tyr)
n.7640A>T
c.7276A>T (p.Asn2426Tyr)
c.6472A>T (p.Asn2158Tyr)
c.6277A>T (p.Asn2093Tyr)
n.7689A>T
5g.37165607T>CCA359476397CPLANE1c.7465A>G (p.Asn2489Asp)
n.585A>G
c.4477A>G (p.Asn1493Asp)
c.537A>G
c.4609A>G (p.Asn1537Asp)
c.7462A>G (p.Asn2488Asp)
c.7336A>G (p.Asn2446Asp)
c.4108A>G (p.Asn1370Asp)
c.2038A>G (p.Asn680Asp)
c.7147A>G (p.Asn2383Asp)
c.6793A>G (p.Asn2265Asp)
c.4690A>G (p.Asn1564Asp)
n.7640A>G
c.7276A>G (p.Asn2426Asp)
c.6472A>G (p.Asn2158Asp)
c.6277A>G (p.Asn2093Asp)
n.7689A>G
5g.37165607T>GCA359476399CPLANE1c.7465A>C (p.Asn2489His)
n.585A>C
c.4477A>C (p.Asn1493His)
c.537A>C
c.4609A>C (p.Asn1537His)
c.7462A>C (p.Asn2488His)
c.7336A>C (p.Asn2446His)
c.4108A>C (p.Asn1370His)
c.2038A>C (p.Asn680His)
c.7147A>C (p.Asn2383His)
c.6793A>C (p.Asn2265His)
c.4690A>C (p.Asn1564His)
n.7640A>C
c.7276A>C (p.Asn2426His)
c.6472A>C (p.Asn2158His)
c.6277A>C (p.Asn2093His)
n.7689A>C
5g.37165608T>ACA443920197CPLANE1c.7464A>T (p.Pro2488=)
n.584A>T
c.4476A>T (p.Pro1492=)
c.536A>T
c.4608A>T (p.Pro1536=)
c.7461A>T (p.Pro2487=)
c.7335A>T (p.Pro2445=)
c.4107A>T (p.Pro1369=)
c.2037A>T (p.Pro679=)
c.7146A>T (p.Pro2382=)
c.6792A>T (p.Pro2264=)
c.4689A>T (p.Pro1563=)
n.7639A>T
c.7275A>T (p.Pro2425=)
c.6471A>T (p.Pro2157=)
c.6276A>T (p.Pro2092=)
n.7688A>T
5g.37165608T>CCA443920198CPLANE1c.7464A>G (p.Pro2488=)
n.584A>G
c.4476A>G (p.Pro1492=)
c.536A>G
c.4608A>G (p.Pro1536=)
c.7461A>G (p.Pro2487=)
c.7335A>G (p.Pro2445=)
c.4107A>G (p.Pro1369=)
c.2037A>G (p.Pro679=)
c.7146A>G (p.Pro2382=)
c.6792A>G (p.Pro2264=)
c.4689A>G (p.Pro1563=)
n.7639A>G
c.7275A>G (p.Pro2425=)
c.6471A>G (p.Pro2157=)
c.6276A>G (p.Pro2092=)
n.7688A>G
 gnomAD v4
5g.37165608T>GCA443920199CPLANE1c.7464A>C (p.Pro2488=)
n.584A>C
c.4476A>C (p.Pro1492=)
c.536A>C
c.4608A>C (p.Pro1536=)
c.7461A>C (p.Pro2487=)
c.7335A>C (p.Pro2445=)
c.4107A>C (p.Pro1369=)
c.2037A>C (p.Pro679=)
c.7146A>C (p.Pro2382=)
c.6792A>C (p.Pro2264=)
c.4689A>C (p.Pro1563=)
n.7639A>C
c.7275A>C (p.Pro2425=)
c.6471A>C (p.Pro2157=)
c.6276A>C (p.Pro2092=)
n.7688A>C
5g.37165609G>ACA359476401CPLANE1c.7463C>T (p.Pro2488Leu)
n.583C>T
c.4475C>T (p.Pro1492Leu)
c.535C>T
c.4607C>T (p.Pro1536Leu)
c.7460C>T (p.Pro2487Leu)
c.7334C>T (p.Pro2445Leu)
c.4106C>T (p.Pro1369Leu)
c.2036C>T (p.Pro679Leu)
c.7145C>T (p.Pro2382Leu)
c.6791C>T (p.Pro2264Leu)
c.4688C>T (p.Pro1563Leu)
n.7638C>T
c.7274C>T (p.Pro2425Leu)
c.6470C>T (p.Pro2157Leu)
c.6275C>T (p.Pro2092Leu)
n.7687C>T
 COSMIC COSMIC
5g.37165609G>CCA359476402CPLANE1c.7463C>G (p.Pro2488Arg)
n.583C>G
c.4475C>G (p.Pro1492Arg)
c.535C>G
c.4607C>G (p.Pro1536Arg)
c.7460C>G (p.Pro2487Arg)
c.7334C>G (p.Pro2445Arg)
c.4106C>G (p.Pro1369Arg)
c.2036C>G (p.Pro679Arg)
c.7145C>G (p.Pro2382Arg)
c.6791C>G (p.Pro2264Arg)
c.4688C>G (p.Pro1563Arg)
n.7638C>G
c.7274C>G (p.Pro2425Arg)
c.6470C>G (p.Pro2157Arg)
c.6275C>G (p.Pro2092Arg)
n.7687C>G
5g.37165609G>TCA359476404CPLANE1c.7463C>A (p.Pro2488Gln)
n.583C>A
c.4475C>A (p.Pro1492Gln)
c.535C>A
c.4607C>A (p.Pro1536Gln)
c.7460C>A (p.Pro2487Gln)
c.7334C>A (p.Pro2445Gln)
c.4106C>A (p.Pro1369Gln)
c.2036C>A (p.Pro679Gln)
c.7145C>A (p.Pro2382Gln)
c.6791C>A (p.Pro2264Gln)
c.4688C>A (p.Pro1563Gln)
n.7638C>A
c.7274C>A (p.Pro2425Gln)
c.6470C>A (p.Pro2157Gln)
c.6275C>A (p.Pro2092Gln)
n.7687C>A
5g.37165610G>ACA359476405CPLANE1c.7462C>T (p.Pro2488Ser)
n.582C>T
c.4474C>T (p.Pro1492Ser)
c.534C>T
c.4606C>T (p.Pro1536Ser)
c.7459C>T (p.Pro2487Ser)
c.7333C>T (p.Pro2445Ser)
c.4105C>T (p.Pro1369Ser)
c.2035C>T (p.Pro679Ser)
c.7144C>T (p.Pro2382Ser)
c.6790C>T (p.Pro2264Ser)
c.4687C>T (p.Pro1563Ser)
n.7637C>T
c.7273C>T (p.Pro2425Ser)
c.6469C>T (p.Pro2157Ser)
c.6274C>T (p.Pro2092Ser)
n.7686C>T
5g.37165610G>CCA359476406CPLANE1c.7462C>G (p.Pro2488Ala)
n.582C>G
c.4474C>G (p.Pro1492Ala)
c.534C>G
c.4606C>G (p.Pro1536Ala)
c.7459C>G (p.Pro2487Ala)
c.7333C>G (p.Pro2445Ala)
c.4105C>G (p.Pro1369Ala)
c.2035C>G (p.Pro679Ala)
c.7144C>G (p.Pro2382Ala)
c.6790C>G (p.Pro2264Ala)
c.4687C>G (p.Pro1563Ala)
n.7637C>G
c.7273C>G (p.Pro2425Ala)
c.6469C>G (p.Pro2157Ala)
c.6274C>G (p.Pro2092Ala)
n.7686C>G
5g.37165610G>TCA359476408CPLANE1c.7462C>A (p.Pro2488Thr)
n.582C>A
c.4474C>A (p.Pro1492Thr)
c.534C>A
c.4606C>A (p.Pro1536Thr)
c.7459C>A (p.Pro2487Thr)
c.7333C>A (p.Pro2445Thr)
c.4105C>A (p.Pro1369Thr)
c.2035C>A (p.Pro679Thr)
c.7144C>A (p.Pro2382Thr)
c.6790C>A (p.Pro2264Thr)
c.4687C>A (p.Pro1563Thr)
n.7637C>A
c.7273C>A (p.Pro2425Thr)
c.6469C>A (p.Pro2157Thr)
c.6274C>A (p.Pro2092Thr)
n.7686C>A
5g.37165611T>ACA359476410CPLANE1c.7461A>T (p.Lys2487Asn)
n.581A>T
c.4473A>T (p.Lys1491Asn)
c.533A>T
c.4605A>T (p.Lys1535Asn)
c.7458A>T (p.Lys2486Asn)
c.7332A>T (p.Lys2444Asn)
c.4104A>T (p.Lys1368Asn)
c.2034A>T (p.Lys678Asn)
c.7143A>T (p.Lys2381Asn)
c.6789A>T (p.Lys2263Asn)
c.4686A>T (p.Lys1562Asn)
n.7636A>T
c.7272A>T (p.Lys2424Asn)
c.6468A>T (p.Lys2156Asn)
c.6273A>T (p.Lys2091Asn)
n.7685A>T
5g.37165611T>CCA443920200CPLANE1c.7461A>G (p.Lys2487=)
n.581A>G
c.4473A>G (p.Lys1491=)
c.533A>G
c.4605A>G (p.Lys1535=)
c.7458A>G (p.Lys2486=)
c.7332A>G (p.Lys2444=)
c.4104A>G (p.Lys1368=)
c.2034A>G (p.Lys678=)
c.7143A>G (p.Lys2381=)
c.6789A>G (p.Lys2263=)
c.4686A>G (p.Lys1562=)
n.7636A>G
c.7272A>G (p.Lys2424=)
c.6468A>G (p.Lys2156=)
c.6273A>G (p.Lys2091=)
n.7685A>G
5g.37165611T>GCA359476412CPLANE1c.7461A>C (p.Lys2487Asn)
n.581A>C
c.4473A>C (p.Lys1491Asn)
c.533A>C
c.4605A>C (p.Lys1535Asn)
c.7458A>C (p.Lys2486Asn)
c.7332A>C (p.Lys2444Asn)
c.4104A>C (p.Lys1368Asn)
c.2034A>C (p.Lys678Asn)
c.7143A>C (p.Lys2381Asn)
c.6789A>C (p.Lys2263Asn)
c.4686A>C (p.Lys1562Asn)
n.7636A>C
c.7272A>C (p.Lys2424Asn)
c.6468A>C (p.Lys2156Asn)
c.6273A>C (p.Lys2091Asn)
n.7685A>C

Number of alleles fetched