Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.86723680_86729187del | CA645372469 | CNGB3 | c.212-2527_338+2854del n.194-2527_320+2854del | ClinVar |
8 | g.86726551G>A | CA180874194 | CNGB3 | c.318C>T (p.Pro106=) n.300C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.86726551G>C | CA461977588 | CNGB3 | c.318C>G (p.Pro106=) n.300C>G | ClinVar dbSNP |
8 | g.86726551G= | CA1799879294 | CNGB3 | c.318C= (p.Pro106=) n.300C= | |
8 | g.86726551G>T | CA461977589 | CNGB3 | c.318C>A (p.Pro106=) n.300C>A | ClinVar dbSNP gnomAD v4 COSMIC |
8 | g.86726554del | CA2579200195 | CNGB3 | c.318del (p.Glu109LysfsTer16) n.300del | |
8 | g.86726552G>A | CA371455656 | CNGB3 | c.317C>T (p.Pro106Leu) n.299C>T | |
8 | g.86726552G>C | CA371455657 | CNGB3 | c.317C>G (p.Pro106Arg) n.299C>G | |
8 | g.86726552G>T | CA371455659 | CNGB3 | c.317C>A (p.Pro106His) n.299C>A | COSMIC |
8 | g.86726553G>A | CA371455661 | CNGB3 | c.316C>T (p.Pro106Ser) n.298C>T | |
8 | g.86726553G>C | CA371455664 | CNGB3 | c.316C>G (p.Pro106Ala) n.298C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.86726553G= | CA1799879295 | CNGB3 | c.316C= (p.Pro106=) n.298C= | |
8 | g.86726553G>T | CA371455666 | CNGB3 | c.316C>A (p.Pro106Thr) n.298C>A | dbSNP |
8 | g.86726554G>A | CA4800445 | CNGB3 | c.315C>T (p.Asp105=) n.297C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.86726554G>C | CA371455671 | CNGB3 | c.315C>G (p.Asp105Glu) n.297C>G | |
8 | g.86726554G= | CA1799879296 | CNGB3 | c.315C= (p.Asp105=) n.297C= | |
8 | g.86726554G>T | CA371455672 | CNGB3 | c.315C>A (p.Asp105Glu) n.297C>A | dbSNP gnomAD v3 gnomAD v4 |
8 | g.86726555T>A | CA371455679 | CNGB3 | c.314A>T (p.Asp105Val) n.296A>T | |
8 | g.86726555T>C | CA371455677 | CNGB3 | c.314A>G (p.Asp105Gly) n.296A>G | |
8 | g.86726555T>G | CA371455675 | CNGB3 | c.314A>C (p.Asp105Ala) n.296A>C | |
8 | g.86726558_86726563del | CA2687827739 | CNGB3 | c.309_314del (p.Glu103_Met104del) n.291_296del | gnomAD v4 |
8 | g.86726556C>A | CA371455680 | CNGB3 | c.313G>T (p.Asp105Tyr) n.295G>T | |
8 | g.86726556C>G | CA371455682 | CNGB3 | c.313G>C (p.Asp105His) n.295G>C | |
8 | g.86726556C>T | CA371455685 | CNGB3 | c.313G>A (p.Asp105Asn) n.295G>A | |
8 | g.86726557C>A | CA371455687 | CNGB3 | c.312G>T (p.Met104Ile) n.294G>T | |
8 | g.86726557C>G | CA371455697 | CNGB3 | c.312G>C (p.Met104Ile) n.294G>C | |
8 | g.86726557C>T | CA371455700 | CNGB3 | c.312G>A (p.Met104Ile) n.294G>A | |
8 | g.86726558A= | CA1799879297 | CNGB3 | c.311T= (p.Met104=) n.293T= | |
8 | g.86726558A>C | CA371455702 | CNGB3 | c.311T>G (p.Met104Arg) n.293T>G | |
8 | g.86726558A>G | CA180874195 | CNGB3 | c.311T>C (p.Met104Thr) n.293T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.86726558A>T | CA371455701 | CNGB3 | c.311T>A (p.Met104Lys) n.293T>A | |
8 | g.86726559T>A | CA371455704 | CNGB3 | c.310A>T (p.Met104Leu) n.292A>T | |
8 | g.86726559T>C | CA371455705 | CNGB3 | c.310A>G (p.Met104Val) n.292A>G | |
8 | g.86726559T>G | CA4800446 | CNGB3 | c.310A>C (p.Met104Leu) n.292A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.86726559T= | CA1799879298 | CNGB3 | c.310A= (p.Met104=) n.292A= | |
8 | g.86726561dup | CA856371446 | CNGB3 | c.310dup (p.Met104AsnfsTer23) n.292dup | dbSNP gnomAD v3 gnomAD v4 |
8 | g.86726560T>A | CA371455708 | CNGB3 | c.309A>T (p.Glu103Asp) n.291A>T | |
8 | g.86726560T>C | CA461977590 | CNGB3 | c.309A>G (p.Glu103=) n.291A>G | |
8 | g.86726560T>G | CA371455710 | CNGB3 | c.309A>C (p.Glu103Asp) n.291A>C | gnomAD v4 |
8 | g.86726561T>A | CA371455715 | CNGB3 | c.308A>T (p.Glu103Val) n.290A>T | |
8 | g.86726561T>C | CA371455713 | CNGB3 | c.308A>G (p.Glu103Gly) n.290A>G | |
8 | g.86726561T>G | CA371455714 | CNGB3 | c.308A>C (p.Glu103Ala) n.290A>C | |
8 | g.86726562C>A | CA371455717 | CNGB3 | c.307G>T (p.Glu103Ter) n.289G>T | |
8 | g.86726562C= | CA1799879299 | CNGB3 | c.307G= (p.Glu103=) n.289G= | |
8 | g.86726562C>G | CA371455719 | CNGB3 | c.307G>C (p.Glu103Gln) n.289G>C | |
8 | g.86726562C>T | CA4800447 | CNGB3 | c.307G>A (p.Glu103Lys) n.289G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
8 | g.86726563C>A | CA371455721 | CNGB3 | c.306G>T (p.Lys102Asn) n.288G>T | |
8 | g.86726563C>G | CA371455723 | CNGB3 | c.306G>C (p.Lys102Asn) n.288G>C | |
8 | g.86726563C>T | CA461977591 | CNGB3 | c.306G>A (p.Lys102=) n.288G>A | gnomAD v4 |
8 | g.86726564T>A | CA371455726 | CNGB3 | c.305A>T (p.Lys102Met) n.287A>T |