Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.52519784C>A | CA384928895 | KRT5 | c.513G>T (p.Gln171His) c.183G>T (p.Gln61His) c.408G>T (p.Gln136His) n.611G>T | |
12 | g.52519784C= | CA2036540445 | KRT5 | c.513G= (p.Gln171=) c.183G= (p.Gln61=) c.408G= (p.Gln136=) n.611G= | |
12 | g.52519784C>G | CA384928897 | KRT5 | c.513G>C (p.Gln171His) c.183G>C (p.Gln61His) c.408G>C (p.Gln136His) n.611G>C | |
12 | g.52519784C>T | CA216734 | KRT5 | c.513G>A (p.Gln171=) c.183G>A (p.Gln61=) c.408G>A (p.Gln136=) n.611G>A | ClinVar dbSNP gnomAD v4 |
12 | g.52519786_52519788del | CA2695216900 | KRT5 | c.511_513del (p.Gln171del) c.181_183del (p.Gln61del) c.406_408del (p.Gln136del) n.609_611del | |
12 | g.52519785T>A | CA384928900 | KRT5 | c.512A>T (p.Gln171Leu) c.182A>T (p.Gln61Leu) c.407A>T (p.Gln136Leu) n.610A>T | |
12 | g.52519785T>C | CA384928904 | KRT5 | c.512A>G (p.Gln171Arg) c.182A>G (p.Gln61Arg) c.407A>G (p.Gln136Arg) n.610A>G | |
12 | g.52519785T>G | CA384928902 | KRT5 | c.512A>C (p.Gln171Pro) c.182A>C (p.Gln61Pro) c.407A>C (p.Gln136Pro) n.610A>C | |
12 | g.52519786G>A | CA384928905 | KRT5 | c.511C>T (p.Gln171Ter) c.181C>T (p.Gln61Ter) c.406C>T (p.Gln136Ter) n.609C>T | |
12 | g.52519786G>C | CA237229058 | KRT5 | c.511C>G (p.Gln171Glu) c.181C>G (p.Gln61Glu) c.406C>G (p.Gln136Glu) n.609C>G | dbSNP gnomAD v4 |
12 | g.52519786G= | CA2036540446 | KRT5 | c.511C= (p.Gln171=) c.181C= (p.Gln61=) c.406C= (p.Gln136=) n.609C= | |
12 | g.52519786G>T | CA6582833 | KRT5 | c.511C>A (p.Gln171Lys) c.181C>A (p.Gln61Lys) c.406C>A (p.Gln136Lys) n.609C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52519787C>A | CA384928908 | KRT5 | c.510G>T (p.Glu170Asp) c.180G>T (p.Glu60Asp) c.405G>T (p.Glu135Asp) n.608G>T | |
12 | g.52519787C>G | CA384928910 | KRT5 | c.510G>C (p.Glu170Asp) c.180G>C (p.Glu60Asp) c.405G>C (p.Glu135Asp) n.608G>C | |
12 | g.52519787C>T | CA480070312 | KRT5 | c.510G>A (p.Glu170=) c.180G>A (p.Glu60=) c.405G>A (p.Glu135=) n.608G>A | |
12 | g.52519788T>A | CA384928912 | KRT5 | c.509A>T (p.Glu170Val) c.179A>T (p.Glu60Val) c.404A>T (p.Glu135Val) n.607A>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52519788T>C | CA216732 | KRT5 | c.509A>G (p.Glu170Gly) c.179A>G (p.Glu60Gly) c.404A>G (p.Glu135Gly) n.607A>G | ClinVar dbSNP |
12 | g.52519788T>G | CA384928915 | KRT5 | c.509A>C (p.Glu170Ala) c.179A>C (p.Glu60Ala) c.404A>C (p.Glu135Ala) n.607A>C | |
12 | g.52519788T= | CA2036540447 | KRT5 | c.509A= (p.Glu170=) c.179A= (p.Glu60=) c.404A= (p.Glu135=) n.607A= | |
12 | g.52519789C>A | CA384928918 | KRT5 | c.508G>T (p.Glu170Ter) c.178G>T (p.Glu60Ter) c.403G>T (p.Glu135Ter) n.606G>T | ClinVar |
12 | g.52519789C= | CA2036540448 | KRT5 | c.508G= (p.Glu170=) c.178G= (p.Glu60=) c.403G= (p.Glu135=) n.606G= | |
12 | g.52519789C>G | CA384928920 | KRT5 | c.508G>C (p.Glu170Gln) c.178G>C (p.Glu60Gln) c.403G>C (p.Glu135Gln) n.606G>C | |
12 | g.52519789C>T | CA216731 | KRT5 | c.508G>A (p.Glu170Lys) c.178G>A (p.Glu60Lys) c.403G>A (p.Glu135Lys) n.606G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52519790G>A | CA6582835 | KRT5 | c.507C>T (p.Arg169=) c.177C>T (p.Arg59=) c.402C>T (p.Arg134=) n.605C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52519790G>C | CA480070313 | KRT5 | c.507C>G (p.Arg169=) c.177C>G (p.Arg59=) c.402C>G (p.Arg134=) n.605C>G | |
12 | g.52519790G= | CA2036540449 | KRT5 | c.507C= (p.Arg169=) c.177C= (p.Arg59=) c.402C= (p.Arg134=) n.605C= | |
12 | g.52519790G>T | CA6582834 | KRT5 | c.507C>A (p.Arg169=) c.177C>A (p.Arg59=) c.402C>A (p.Arg134=) n.605C>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.52519791C>A | CA384928925 | KRT5 | c.506G>T (p.Arg169Leu) c.176G>T (p.Arg59Leu) c.401G>T (p.Arg134Leu) n.604G>T | |
12 | g.52519791C= | CA2036540450 | KRT5 | c.506G= (p.Arg169=) c.176G= (p.Arg59=) c.401G= (p.Arg134=) n.604G= | |
12 | g.52519791C>G | CA216730 | KRT5 | c.506G>C (p.Arg169Pro) c.176G>C (p.Arg59Pro) c.401G>C (p.Arg134Pro) n.604G>C | ClinVar dbSNP |
12 | g.52519791C>T | CA6582836 | KRT5 | c.506G>A (p.Arg169His) c.176G>A (p.Arg59His) c.401G>A (p.Arg134His) n.604G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52519792G>A | CA384928928 | KRT5 | c.505C>T (p.Arg169Cys) c.175C>T (p.Arg59Cys) c.400C>T (p.Arg134Cys) n.603C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52519792G>C | CA384928930 | KRT5 | c.505C>G (p.Arg169Gly) c.175C>G (p.Arg59Gly) c.400C>G (p.Arg134Gly) n.603C>G | |
12 | g.52519792G= | CA2036540451 | KRT5 | c.505C= (p.Arg169=) c.175C= (p.Arg59=) c.400C= (p.Arg134=) n.603C= | |
12 | g.52519792G>T | CA6582837 | KRT5 | c.505C>A (p.Arg169Ser) c.175C>A (p.Arg59Ser) c.400C>A (p.Arg134Ser) n.603C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52519793C>A | CA384928933 | KRT5 | c.504G>T (p.Glu168Asp) c.174G>T (p.Glu58Asp) c.399G>T (p.Glu133Asp) n.602G>T | |
12 | g.52519793C= | CA2036540452 | KRT5 | c.504G= (p.Glu168=) c.174G= (p.Glu58=) c.399G= (p.Glu133=) n.602G= | |
12 | g.52519793C>G | CA384928935 | KRT5 | c.504G>C (p.Glu168Asp) c.174G>C (p.Glu58Asp) c.399G>C (p.Glu133Asp) n.602G>C | ClinVar |
12 | g.52519793C>T | CA480070314 | KRT5 | c.504G>A (p.Glu168=) c.174G>A (p.Glu58=) c.399G>A (p.Glu133=) n.602G>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.52519794T>A | CA384928938 | KRT5 | c.503A>T (p.Glu168Val) c.173A>T (p.Glu58Val) c.398A>T (p.Glu133Val) n.601A>T | ClinVar |
12 | g.52519794T>C | CA384928940 | KRT5 | c.503A>G (p.Glu168Gly) c.173A>G (p.Glu58Gly) c.398A>G (p.Glu133Gly) n.601A>G | |
12 | g.52519794T>G | CA384928941 | KRT5 | c.503A>C (p.Glu168Ala) c.173A>C (p.Glu58Ala) c.398A>C (p.Glu133Ala) n.601A>C | |
12 | g.52519795C>A | CA384928943 | KRT5 | c.502G>T (p.Glu168Ter) c.172G>T (p.Glu58Ter) c.397G>T (p.Glu133Ter) n.600G>T | |
12 | g.52519795C= | CA2036540453 | KRT5 | c.502G= (p.Glu168=) c.172G= (p.Glu58=) c.397G= (p.Glu133=) n.600G= | |
12 | g.52519795C>G | CA384928945 | KRT5 | c.502G>C (p.Glu168Gln) c.172G>C (p.Glu58Gln) c.397G>C (p.Glu133Gln) n.600G>C | |
12 | g.52519795C>T | CA216729 | KRT5 | c.502G>A (p.Glu168Lys) c.172G>A (p.Glu58Lys) c.397G>A (p.Glu133Lys) n.600G>A | ClinVar dbSNP COSMIC |
12 | g.52519796C>A | CA384928950 | KRT5 | c.501G>T (p.Glu167Asp) c.171G>T (p.Glu57Asp) c.396G>T (p.Glu132Asp) n.599G>T | |
12 | g.52519796C>G | CA384928948 | KRT5 | c.501G>C (p.Glu167Asp) c.171G>C (p.Glu57Asp) c.396G>C (p.Glu132Asp) n.599G>C | |
12 | g.52519796C>T | CA480070315 | KRT5 | c.501G>A (p.Glu167=) c.171G>A (p.Glu57=) c.396G>A (p.Glu132=) n.599G>A | gnomAD v4 |
12 | g.52519797T>A | CA384928952 | KRT5 | c.500A>T (p.Glu167Val) c.170A>T (p.Glu57Val) c.395A>T (p.Glu132Val) n.598A>T | dbSNP |