Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.80104734_80107789del | CA658795223 | GAA | c.148_859-11del | ClinVar |
17 | g.80105797_80105798delinsTG | CA2580095300 | GAA | c.595_596delinsTG (p.His199Cys) | ClinVar |
17 | g.80105798A= | CA2277811242 | GAA | c.596A= (p.His199=) | |
17 | g.80105798A>C | CA401362227 | GAA | c.596A>C (p.His199Pro) | |
17 | g.80105798A>G | CA145785 | GAA | c.596A>G (p.His199Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105798A>T | CA401362225 | GAA | c.596A>T (p.His199Leu) | ClinVar gnomAD v4 |
17 | g.80105798_80105802delinsGTGT | CA2580095301 | GAA | c.596_600delinsGTGT (p.His199ArgfsTer22) c.596_600delinsGTGT (p.His199ArgfsTer?) | ClinVar |
17 | g.80105799T>A | CA401362231 | GAA | c.597T>A (p.His199Gln) | |
17 | g.80105799T>C | CA502177561 | GAA | c.597T>C (p.His199=) | |
17 | g.80105799T>G | CA401362232 | GAA | c.597T>G (p.His199Gln) | |
17 | g.80105800G>A | CA401362233 | GAA | c.598G>A (p.Val200Ile) | |
17 | g.80105800G>C | CA401362234 | GAA | c.598G>C (p.Val200Leu) | |
17 | g.80105800G= | CA2277811243 | GAA | c.598G= (p.Val200=) | |
17 | g.80105800G>T | CA401362236 | GAA | c.598G>T (p.Val200Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105801T>A | CA8814938 | GAA | c.599T>A (p.Val200Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80105801T>C | CA401362241 | GAA | c.599T>C (p.Val200Ala) | |
17 | g.80105801T>G | CA401362243 | GAA | c.599T>G (p.Val200Gly) | |
17 | g.80105801T= | CA2277811244 | GAA | c.599T= (p.Val200=) | |
17 | g.80105802C>A | CA502177568 | GAA | c.600C>A (p.Val200=) | |
17 | g.80105802C= | CA2277811245 | GAA | c.600C= (p.Val200=) | |
17 | g.80105802C>G | CA502177570 | GAA | c.600C>G (p.Val200=) | |
17 | g.80105802C>T | CA8814939 | GAA | c.600C>T (p.Val200=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105803C>A | CA401362247 | GAA | c.601C>A (p.His201Asn) | |
17 | g.80105803C= | CA2277811246 | GAA | c.601C= (p.His201=) | |
17 | g.80105803C>G | CA401362249 | GAA | c.601C>G (p.His201Asp) | |
17 | g.80105803C>T | CA401362251 | GAA | c.601C>T (p.His201Tyr) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105804A>C | CA401362254 | GAA | c.602A>C (p.His201Pro) | |
17 | g.80105804A>G | CA401362256 | GAA | c.602A>G (p.His201Arg) | gnomAD v4 |
17 | g.80105804A>T | CA401362253 | GAA | c.602A>T (p.His201Leu) | |
17 | g.80105805C>A | CA401362257 | GAA | c.603C>A (p.His201Gln) | |
17 | g.80105805C= | CA2277811247 | GAA | c.603C= (p.His201=) | |
17 | g.80105805C>G | CA401362259 | GAA | c.603C>G (p.His201Gln) | |
17 | g.80105805C>T | CA502177577 | GAA | c.603C>T (p.His201=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105806A>C | CA401362260 | GAA | c.604A>C (p.Ser202Arg) | |
17 | g.80105806A>G | CA401362262 | GAA | c.604A>G (p.Ser202Gly) | |
17 | g.80105806A>T | CA401362264 | GAA | c.604A>T (p.Ser202Cys) | |
17 | g.80105807G>A | CA401362270 | GAA | c.605G>A (p.Ser202Asn) | gnomAD v4 |
17 | g.80105807G>C | CA401362269 | GAA | c.605G>C (p.Ser202Thr) | |
17 | g.80105807G>T | CA401362267 | GAA | c.605G>T (p.Ser202Ile) | gnomAD v4 |
17 | g.80105808C>A | CA401362271 | GAA | c.606C>A (p.Ser202Arg) | |
17 | g.80105808C= | CA2277811248 | GAA | c.606C= (p.Ser202=) | |
17 | g.80105808C>G | CA401362273 | GAA | c.606C>G (p.Ser202Arg) | |
17 | g.80105808C>T | CA502177582 | GAA | c.606C>T (p.Ser202=) | dbSNP gnomAD v4 |
17 | g.80105809C>A | CA502177584 | GAA | c.607C>A (p.Arg203=) | gnomAD v4 |
17 | g.80105809C= | CA2277811249 | GAA | c.607C= (p.Arg203=) | |
17 | g.80105809C>G | CA401362275 | GAA | c.607C>G (p.Arg203Gly) | |
17 | g.80105809C>T | CA8814940 | GAA | c.607C>T (p.Arg203Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105810G>A | CA8814941 | GAA | c.608G>A (p.Arg203Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105810G>C | CA401362278 | GAA | c.608G>C (p.Arg203Pro) | dbSNP gnomAD v4 |
17 | g.80105810G= | CA2277811250 | GAA | c.608G= (p.Arg203=) |