| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.80105773T>A | CA8814931 | GAA | c.571T>A (p.Tyr191Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.80105773T>C | CA294888098 | GAA | c.571T>C (p.Tyr191His) | dbSNP gnomAD v4 |
| 17 | g.80105773T>G | CA401362120 | GAA | c.571T>G (p.Tyr191Asp) | ClinVar dbSNP |
| 17 | g.80105773T= | CA2277811228 | GAA | c.571T= (p.Tyr191=) | |
| 17 | g.80105774del | CA2965194533 | GAA | c.572del (p.Tyr191SerfsTer30) c.572del (p.Tyr191SerfsTer?) | |
| 17 | g.80105774A= | CA2277811229 | GAA | c.572A= (p.Tyr191=) | |
| 17 | g.80105774A>C | CA401362122 | GAA | c.572A>C (p.Tyr191Ser) | |
| 17 | g.80105774A>G | CA401362123 | GAA | c.572A>G (p.Tyr191Cys) | ClinVar dbSNP |
| 17 | g.80105774A>T | CA401362125 | GAA | c.572A>T (p.Tyr191Phe) | |
| 17 | g.80105775C>A | CA16041885 | GAA | c.573C>A (p.Tyr191Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80105775C= | CA2277811230 | GAA | c.573C= (p.Tyr191=) | |
| 17 | g.80105775C>G | CA401362126 | GAA | c.573C>G (p.Tyr191Ter) | |
| 17 | g.80105775C>T | CA8814932 | GAA | c.573C>T (p.Tyr191=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80105776G>A | CA401362134 | GAA | c.574G>A (p.Glu192Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80105776G>C | CA401362130 | GAA | c.574G>C (p.Glu192Gln) | |
| 17 | g.80105776G= | CA2277811231 | GAA | c.574G= (p.Glu192=) | |
| 17 | g.80105776G>T | CA401362132 | GAA | c.574G>T (p.Glu192Ter) | COSMIC |
| 17 | g.80105777_80105778del | CA2965194554 | GAA | c.575_576del (p.Glu192GlyfsTer?) | |
| 17 | g.80105777A>C | CA401362136 | GAA | c.575A>C (p.Glu192Ala) | |
| 17 | g.80105777A>G | CA401362137 | GAA | c.575A>G (p.Glu192Gly) | |
| 17 | g.80105777A>T | CA401362139 | GAA | c.575A>T (p.Glu192Val) | |
| 17 | g.80105778G>A | CA502177509 | GAA | c.576G>A (p.Glu192=) | |
| 17 | g.80105778G>C | CA8814933 | GAA | c.576G>C (p.Glu192Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80105778G= | CA2277811232 | GAA | c.576G= (p.Glu192=) | |
| 17 | g.80105778G>T | CA401362143 | GAA | c.576G>T (p.Glu192Asp) | gnomAD v4 |
| 17 | g.80105779dup | CA2838388747 | GAA | c.577dup (p.Val193GlyfsTer?) | |
| 17 | g.80105779del | CA2965194556 | GAA | c.577del (p.Val193CysfsTer28) c.577del (p.Val193CysfsTer?) | |
| 17 | g.80105779G>A | CA401362145 | GAA | c.577G>A (p.Val193Met) | |
| 17 | g.80105779G>C | CA401362148 | GAA | c.577G>C (p.Val193Leu) | |
| 17 | g.80105779G>T | CA401362147 | GAA | c.577G>T (p.Val193Leu) | gnomAD v4 |
| 17 | g.80105780T>A | CA401362150 | GAA | c.578T>A (p.Val193Glu) | |
| 17 | g.80105780T>C | CA401362152 | GAA | c.578T>C (p.Val193Ala) | |
| 17 | g.80105780T>G | CA401362154 | GAA | c.578T>G (p.Val193Gly) | |
| 17 | g.80105781G>A | CA502177515 | GAA | c.579G>A (p.Val193=) | ClinVar dbSNP |
| 17 | g.80105781G>C | CA8814934 | GAA | c.579G>C (p.Val193=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80105781G= | CA2277811233 | GAA | c.579G= (p.Val193=) | |
| 17 | g.80105781G>T | CA502177517 | GAA | c.579G>T (p.Val193=) | gnomAD v4 |
| 17 | g.80105781dup | CA2576660839 | GAA | c.579dup (p.Pro194AlafsTer?) | |
| 17 | g.80105782C>A | CA401362156 | GAA | c.580C>A (p.Pro194Thr) | |
| 17 | g.80105782C>G | CA401362158 | GAA | c.580C>G (p.Pro194Ala) | |
| 17 | g.80105782C>T | CA401362160 | GAA | c.580C>T (p.Pro194Ser) | gnomAD v4 |
| 17 | g.80105784dup | CA2965194585 | GAA | c.582dup (p.Glu196GlyfsTer?) | |
| 17 | g.80105784del | CA2965194593 | GAA | c.582del (p.Leu195TrpfsTer26) c.582del (p.Leu195TrpfsTer?) | |
| 17 | g.80105783C>A | CA401362161 | GAA | c.581C>A (p.Pro194His) | gnomAD v4 |
| 17 | g.80105783C= | CA2277811234 | GAA | c.581C= (p.Pro194=) | |
| 17 | g.80105783C>G | CA401362163 | GAA | c.581C>G (p.Pro194Arg) | |
| 17 | g.80105783C>T | CA401362165 | GAA | c.581C>T (p.Pro194Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80105784C>A | CA502177523 | GAA | c.582C>A (p.Pro194=) | |
| 17 | g.80105784C= | CA2277811235 | GAA | c.582C= (p.Pro194=) | |
| 17 | g.80105784C>G | CA8814935 | GAA | c.582C>G (p.Pro194=) | dbSNP ExAC gnomAD v2 gnomAD v4 |