Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.80104170_80104729del | CA2697555214 | GAA | c.-32-385_143del | ClinVar |
17 | g.80104663_80104673del | CA2640274215 | GAA | c.77_87del (p.Leu26HisfsTer5) | gnomAD v4 |
17 | g.80104661A= | CA2277810575 | GAA | c.75A= (p.Ala25=) | |
17 | g.80104661A>C | CA502177064 | GAA | c.75A>C (p.Ala25=) | ClinVar dbSNP |
17 | g.80104661A>G | CA502177066 | GAA | c.75A>G (p.Ala25=) | ClinVar dbSNP gnomAD v4 |
17 | g.80104661A>T | CA502177068 | GAA | c.75A>T (p.Ala25=) | ClinVar |
17 | g.80104662C>A | CA401360172 | GAA | c.76C>A (p.Leu26Ile) | |
17 | g.80104662C= | CA2277810576 | GAA | c.76C= (p.Leu26=) | |
17 | g.80104662C>G | CA401360174 | GAA | c.76C>G (p.Leu26Val) | |
17 | g.80104662C>T | CA8814783 | GAA | c.76C>T (p.Leu26Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104663T>A | CA401360178 | GAA | c.77T>A (p.Leu26His) | |
17 | g.80104663T>C | CA401360180 | GAA | c.77T>C (p.Leu26Pro) | |
17 | g.80104663T>G | CA401360183 | GAA | c.77T>G (p.Leu26Arg) | ClinVar dbSNP |
17 | g.80104663T= | CA2277810577 | GAA | c.77T= (p.Leu26=) | |
17 | g.80104664C>A | CA502177073 | GAA | c.78C>A (p.Leu26=) | |
17 | g.80104664C>G | CA502177074 | GAA | c.78C>G (p.Leu26=) | |
17 | g.80104664C>T | CA502177072 | GAA | c.78C>T (p.Leu26=) | ClinVar dbSNP gnomAD v4 |
17 | g.80104665C>A | CA401360186 | GAA | c.79C>A (p.Leu27Met) | |
17 | g.80104665C= | CA2277810578 | GAA | c.79C= (p.Leu27=) | |
17 | g.80104665C>G | CA8814784 | GAA | c.79C>G (p.Leu27Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104665C>T | CA502177075 | GAA | c.79C>T (p.Leu27=) | ClinVar dbSNP gnomAD v4 |
17 | g.80104666T>A | CA401360189 | GAA | c.80T>A (p.Leu27Gln) | |
17 | g.80104666T>C | CA401360190 | GAA | c.80T>C (p.Leu27Pro) | |
17 | g.80104666T>G | CA401360192 | GAA | c.80T>G (p.Leu27Arg) | |
17 | g.80104667G>A | CA502177076 | GAA | c.81G>A (p.Leu27=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104667G>C | CA502177077 | GAA | c.81G>C (p.Leu27=) | |
17 | g.80104667G= | CA2277810579 | GAA | c.81G= (p.Leu27=) | |
17 | g.80104667G>T | CA502177078 | GAA | c.81G>T (p.Leu27=) | gnomAD v4 |
17 | g.80104670dup | CA2695200345 | GAA | c.84dup (p.His29AlafsTer6) | ClinVar |
17 | g.80104668G>A | CA294886548 | GAA | c.82G>A (p.Gly28Arg) | dbSNP |
17 | g.80104668G>C | CA401360197 | GAA | c.82G>C (p.Gly28Arg) | |
17 | g.80104668G= | CA2277810580 | GAA | c.82G= (p.Gly28=) | |
17 | g.80104668G>T | CA401360195 | GAA | c.82G>T (p.Gly28Trp) | |
17 | g.80104669G>A | CA401360200 | GAA | c.83G>A (p.Gly28Glu) | dbSNP gnomAD v4 |
17 | g.80104669G>C | CA401360202 | GAA | c.83G>C (p.Gly28Ala) | |
17 | g.80104669G= | CA2277810581 | GAA | c.83G= (p.Gly28=) | |
17 | g.80104669G>T | CA10604460 | GAA | c.83G>T (p.Gly28Val) | ClinVar dbSNP |
17 | g.80104670G>A | CA8814785 | GAA | c.84G>A (p.Gly28=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104670G>C | CA502177080 | GAA | c.84G>C (p.Gly28=) | ClinVar |
17 | g.80104670G= | CA2277810582 | GAA | c.84G= (p.Gly28=) | |
17 | g.80104670G>T | CA502177079 | GAA | c.84G>T (p.Gly28=) | |
17 | g.80104671C>A | CA401360209 | GAA | c.85C>A (p.His29Asn) | |
17 | g.80104671C= | CA2277810583 | GAA | c.85C= (p.His29=) | |
17 | g.80104671C>G | CA401360211 | GAA | c.85C>G (p.His29Asp) | |
17 | g.80104671C>T | CA294886572 | GAA | c.85C>T (p.His29Tyr) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104672A>C | CA401360220 | GAA | c.86A>C (p.His29Pro) | |
17 | g.80104672A>G | CA401360215 | GAA | c.86A>G (p.His29Arg) | |
17 | g.80104672A>T | CA401360217 | GAA | c.86A>T (p.His29Leu) | |
17 | g.80104673C>A | CA401360221 | GAA | c.87C>A (p.His29Gln) | |
17 | g.80104673C= | CA2277810584 | GAA | c.87C= (p.His29=) |