Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.80104734_80107789del | CA658795223 | GAA | c.148_859-11del | ClinVar |
17 | g.80105798_80105802delinsGTGT | CA2580095301 | GAA | c.596_600delinsGTGT (p.His199ArgfsTer22) c.596_600delinsGTGT (p.His199ArgfsTer?) | ClinVar |
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=) | |
17 | g.80105810G>T | CA401362279 | GAA | c.608G>T (p.Arg203Leu) | gnomAD v4 |
17 | g.80105811G>A | CA502177589 | GAA | c.609G>A (p.Arg203=) | ClinVar dbSNP gnomAD v4 |
17 | g.80105811G>C | CA502177591 | GAA | c.609G>C (p.Arg203=) | |
17 | g.80105811G= | CA2277811251 | GAA | c.609G= (p.Arg203=) | |
17 | g.80105811G>T | CA502177592 | GAA | c.609G>T (p.Arg203=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105812G>A | CA8814942 | GAA | c.610G>A (p.Ala204Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105812G>C | CA401362283 | GAA | c.610G>C (p.Ala204Pro) | |
17 | g.80105812G= | CA2277811252 | GAA | c.610G= (p.Ala204=) | |
17 | g.80105812G>T | CA401362280 | GAA | c.610G>T (p.Ala204Ser) | gnomAD v4 |
17 | g.80105813C>A | CA401362287 | GAA | c.611C>A (p.Ala204Glu) | gnomAD v4 |
17 | g.80105813C>G | CA401362285 | GAA | c.611C>G (p.Ala204Gly) | |
17 | g.80105813C>T | CA401362289 | GAA | c.611C>T (p.Ala204Val) | ClinVar gnomAD v4 |
17 | g.80105814A>C | CA502177598 | GAA | c.612A>C (p.Ala204=) | |
17 | g.80105814A>G | CA502177600 | GAA | c.612A>G (p.Ala204=) | ClinVar |
17 | g.80105814A>T | CA502177601 | GAA | c.612A>T (p.Ala204=) | |
17 | g.80105815C>A | CA401362292 | GAA | c.613C>A (p.Pro205Thr) |