Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.80108493C>A | CA401364898 | GAA | c.1080C>A (p.Tyr360Ter) | |
17 | g.80108493C>G | CA401364900 | GAA | c.1080C>G (p.Tyr360Ter) | |
17 | g.80108493C>T | CA502402366 | GAA | c.1080C>T (p.Tyr360=) | ClinVar dbSNP gnomAD v4 |
17 | g.80108495dup | CA2573154954 | GAA | c.1082dup (p.Phe362ValfsTer?) | ClinVar dbSNP |
17 | g.80108494C>A | CA401364902 | GAA | c.1081C>A (p.Pro361Thr) | |
17 | g.80108494C= | CA2277812781 | GAA | c.1081C= (p.Pro361=) | |
17 | g.80108494C>G | CA401364903 | GAA | c.1081C>G (p.Pro361Ala) | |
17 | g.80108494C>T | CA294892083 | GAA | c.1081C>T (p.Pro361Ser) | dbSNP gnomAD v4 |
17 | g.80108495C>A | CA401364908 | GAA | c.1082C>A (p.Pro361Gln) | |
17 | g.80108495C= | CA2277812782 | GAA | c.1082C= (p.Pro361=) | |
17 | g.80108495C>G | CA10606426 | GAA | c.1082C>G (p.Pro361Arg) | ClinVar dbSNP gnomAD v4 |
17 | g.80108495C>T | CA8815163 | GAA | c.1082C>T (p.Pro361Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108496G>A | CA8815164 | GAA | c.1083G>A (p.Pro361=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108496G>C | CA502402369 | GAA | c.1083G>C (p.Pro361=) | |
17 | g.80108496G= | CA2277812783 | GAA | c.1083G= (p.Pro361=) | |
17 | g.80108496G>T | CA502402368 | GAA | c.1083G>T (p.Pro361=) | |
17 | g.80108497T>A | CA401364910 | GAA | c.1084T>A (p.Phe362Ile) | |
17 | g.80108497T>C | CA401364912 | GAA | c.1084T>C (p.Phe362Leu) | |
17 | g.80108497T>G | CA401364914 | GAA | c.1084T>G (p.Phe362Val) | gnomAD v4 |
17 | g.80108498T>A | CA401364916 | GAA | c.1085T>A (p.Phe362Tyr) | |
17 | g.80108498T>C | CA401364918 | GAA | c.1085T>C (p.Phe362Ser) | |
17 | g.80108498T>G | CA401364920 | GAA | c.1085T>G (p.Phe362Cys) | |
17 | g.80108499C>A | CA401364924 | GAA | c.1086C>A (p.Phe362Leu) | |
17 | g.80108499C>G | CA401364922 | GAA | c.1086C>G (p.Phe362Leu) | gnomAD v4 |
17 | g.80108499C>T | CA502402371 | GAA | c.1086C>T (p.Phe362=) | ClinVar dbSNP gnomAD v4 |
17 | g.80108500A= | CA2277812784 | GAA | c.1087A= (p.Met363=) | |
17 | g.80108500A>C | CA401364926 | GAA | c.1087A>C (p.Met363Leu) | |
17 | g.80108500A>G | CA401364927 | GAA | c.1087A>G (p.Met363Val) | ClinVar dbSNP |
17 | g.80108500A>T | CA16622138 | GAA | c.1087A>T (p.Met363Leu) | dbSNP gnomAD v4 |
17 | g.80108501T>A | CA401364928 | GAA | c.1088T>A (p.Met363Lys) | |
17 | g.80108501T>C | CA401364929 | GAA | c.1088T>C (p.Met363Thr) | |
17 | g.80108501T>G | CA8815165 | GAA | c.1088T>G (p.Met363Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108501T= | CA2277812785 | GAA | c.1088T= (p.Met363=) | |
17 | g.80108502G>A | CA401364932 | GAA | c.1089G>A (p.Met363Ile) | ClinVar |
17 | g.80108502G>C | CA401364930 | GAA | c.1089G>C (p.Met363Ile) | |
17 | g.80108502G>T | CA401364931 | GAA | c.1089G>T (p.Met363Ile) | gnomAD v4 |
17 | g.80108503C>A | CA401364933 | GAA | c.1090C>A (p.Pro364Thr) | |
17 | g.80108503C= | CA2277812786 | GAA | c.1090C= (p.Pro364=) | |
17 | g.80108503C>G | CA401364934 | GAA | c.1090C>G (p.Pro364Ala) | |
17 | g.80108503C>T | CA401364935 | GAA | c.1090C>T (p.Pro364Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108504del | CA2573154955 | GAA | c.1091del (p.Pro364ArgfsTer28) | ClinVar dbSNP |
17 | g.80108504C>A | CA401364936 | GAA | c.1091C>A (p.Pro364Gln) | gnomAD v4 |
17 | g.80108504C= | CA2277812787 | GAA | c.1091C= (p.Pro364=) | |
17 | g.80108504C>G | CA401364937 | GAA | c.1091C>G (p.Pro364Arg) | |
17 | g.80108504C>T | CA8815166 | GAA | c.1091C>T (p.Pro364Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108505G>A | CA8815167 | GAA | c.1092G>A (p.Pro364=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108505G>C | CA502402377 | GAA | c.1092G>C (p.Pro364=) | ClinVar gnomAD v4 |
17 | g.80108505G= | CA2277812788 | GAA | c.1092G= (p.Pro364=) | |
17 | g.80108505G>T | CA502402378 | GAA | c.1092G>T (p.Pro364=) | gnomAD v4 |
17 | g.80108506C>A | CA401364938 | GAA | c.1093C>A (p.Pro365Thr) |