| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 17 | g.80105784C>T | CA502177525 | GAA | c.582C>T (p.Pro194=) | |
| 17 | g.80105785T>A | CA401362168 | GAA | c.583T>A (p.Leu195Met) | |
| 17 | g.80105785T>C | CA502177528 | GAA | c.583T>C (p.Leu195=) | ClinVar dbSNP |
| 17 | g.80105785T>G | CA401362170 | GAA | c.583T>G (p.Leu195Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80105785T= | CA2277811236 | GAA | c.583T= (p.Leu195=) | |
| 17 | g.80105786dup | CA2965194608 | GAA | c.584dup (p.Leu195PhefsTer?) | |
| 17 | g.80105786del | CA2965194632 | GAA | c.584del (p.Leu195TrpfsTer26) c.584del (p.Leu195TrpfsTer?) | |
| 17 | g.80105786T>A | CA401362172 | GAA | c.584T>A (p.Leu195Ter) | ClinVar |
| 17 | g.80105786T>C | CA401362176 | GAA | c.584T>C (p.Leu195Ser) | gnomAD v4 |
| 17 | g.80105786T>G | CA401362173 | GAA | c.584T>G (p.Leu195Trp) | |
| 17 | g.80105787G>A | CA502177532 | GAA | c.585G>A (p.Leu195=) | |
| 17 | g.80105787G>C | CA401362178 | GAA | c.585G>C (p.Leu195Phe) | |
| 17 | g.80105787G>T | CA401362180 | GAA | c.585G>T (p.Leu195Phe) | |
| 17 | g.80105787_80105788del | CA2840238209 | GAA | c.585_586del (p.Glu196AspfsTer?) | |
| 17 | g.80105788del | CA2965194656 | GAA | c.586del (p.Glu196ArgfsTer25) c.586del (p.Glu196ArgfsTer?) | |
| 17 | g.80105788G>A | CA401362183 | GAA | c.586G>A (p.Glu196Lys) | |
| 17 | g.80105788G>C | CA401362184 | GAA | c.586G>C (p.Glu196Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80105788G= | CA2277811237 | GAA | c.586G= (p.Glu196=) | |
| 17 | g.80105788G>T | CA401362187 | GAA | c.586G>T (p.Glu196Ter) | gnomAD v4 |
| 17 | g.80105790_80105791del | CA2965194662 | GAA | c.588_589del (p.Glu196AspfsTer?) | |
| 17 | g.80105789del | CA2580095298 | GAA | c.587del (p.Glu196GlyfsTer25) c.587del (p.Glu196GlyfsTer?) | ClinVar |
| 17 | g.80105789A>C | CA401362189 | GAA | c.587A>C (p.Glu196Ala) | |
| 17 | g.80105789A>G | CA401362191 | GAA | c.587A>G (p.Glu196Gly) | |
| 17 | g.80105789A>T | CA401362192 | GAA | c.587A>T (p.Glu196Val) | |
| 17 | g.80105790G>A | CA502177537 | GAA | c.588G>A (p.Glu196=) | |
| 17 | g.80105790G>C | CA401362194 | GAA | c.588G>C (p.Glu196Asp) | |
| 17 | g.80105790G>T | CA401362196 | GAA | c.588G>T (p.Glu196Asp) | |
| 17 | g.80105791A>C | CA401362201 | GAA | c.589A>C (p.Thr197Pro) | |
| 17 | g.80105791A>G | CA401362200 | GAA | c.589A>G (p.Thr197Ala) | |
| 17 | g.80105791A>T | CA401362198 | GAA | c.589A>T (p.Thr197Ser) | |
| 17 | g.80105792C>A | CA8814936 | GAA | c.590C>A (p.Thr197Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.80105792C= | CA2277811238 | GAA | c.590C= (p.Thr197=) | |
| 17 | g.80105792C>G | CA401362205 | GAA | c.590C>G (p.Thr197Ser) | |
| 17 | g.80105792C>T | CA401362206 | GAA | c.590C>T (p.Thr197Ile) | ClinVar dbSNP |
| 17 | g.80105795dup | CA2965194681 | GAA | c.593dup (p.His199AlafsTer?) | |
| 17 | g.80105795del | CA2640277686 | GAA | c.593del (p.Pro198ArgfsTer23) c.593del (p.Pro198ArgfsTer?) | gnomAD v4 |
| 17 | g.80105794_80105795del | CA2965194717 | GAA | c.592_593del (p.Pro198AlafsTer?) | |
| 17 | g.80105793C>A | CA502177543 | GAA | c.591C>A (p.Thr197=) | |
| 17 | g.80105793C>G | CA502177545 | GAA | c.591C>G (p.Thr197=) | |
| 17 | g.80105793C>T | CA502177547 | GAA | c.591C>T (p.Thr197=) | gnomAD v4 |
| 17 | g.80105794C>A | CA294888175 | GAA | c.592C>A (p.Pro198Thr) | dbSNP |