| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.80104170_80104729del | CA2697555214 | GAA | c.-32-385_143del | |
| 17 | g.80104704C>A | CA502177117 | GAA | c.118C>A (p.Arg40=) | |
| 17 | g.80104704C= | CA2277810597 | GAA | c.118C= (p.Arg40=) | |
| 17 | g.80104704C>G | CA401360283 | GAA | c.118C>G (p.Arg40Gly) | ClinVar dbSNP gnomAD v4 COSMIC |
| 17 | g.80104704C>T | CA8814791 | GAA | c.118C>T (p.Arg40Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80104705G>A | CA8814792 | GAA | c.119G>A (p.Arg40Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80104705G>C | CA401360284 | GAA | c.119G>C (p.Arg40Pro) | |
| 17 | g.80104705G= | CA2277810598 | GAA | c.119G= (p.Arg40=) | |
| 17 | g.80104705G>T | CA401360285 | GAA | c.119G>T (p.Arg40Leu) | |
| 17 | g.80104706A>C | CA502177121 | GAA | c.120A>C (p.Arg40=) | |
| 17 | g.80104706A>G | CA502177122 | GAA | c.120A>G (p.Arg40=) | |
| 17 | g.80104706A>T | CA502177120 | GAA | c.120A>T (p.Arg40=) | |
| 17 | g.80104707G>A | CA401360288 | GAA | c.121G>A (p.Glu41Lys) | |
| 17 | g.80104707G>C | CA401360286 | GAA | c.121G>C (p.Glu41Gln) | |
| 17 | g.80104707G>T | CA401360287 | GAA | c.121G>T (p.Glu41Ter) | |
| 17 | g.80104708A>C | CA401360289 | GAA | c.122A>C (p.Glu41Ala) | |
| 17 | g.80104708A>G | CA401360290 | GAA | c.122A>G (p.Glu41Gly) | |
| 17 | g.80104708A>T | CA401360291 | GAA | c.122A>T (p.Glu41Val) | |
| 17 | g.80104709G>A | CA502177123 | GAA | c.123G>A (p.Glu41=) | |
| 17 | g.80104709G>C | CA401360292 | GAA | c.123G>C (p.Glu41Asp) | |
| 17 | g.80104709G>T | CA401360293 | GAA | c.123G>T (p.Glu41Asp) | |
| 17 | g.80104710C>A | CA401360294 | GAA | c.124C>A (p.Leu42Met) | |
| 17 | g.80104710C>G | CA401360295 | GAA | c.124C>G (p.Leu42Val) | gnomAD v4 |
| 17 | g.80104710C>T | CA502177126 | GAA | c.124C>T (p.Leu42=) | gnomAD v4 |
| 17 | g.80104711T>A | CA401360296 | GAA | c.125T>A (p.Leu42Gln) | |
| 17 | g.80104711T>C | CA401360297 | GAA | c.125T>C (p.Leu42Pro) | gnomAD v4 |
| 17 | g.80104711T>G | CA401360298 | GAA | c.125T>G (p.Leu42Arg) | gnomAD v4 |
| 17 | g.80104712G>A | CA502177127 | GAA | c.126G>A (p.Leu42=) | gnomAD v4 |
| 17 | g.80104712G>C | CA502177128 | GAA | c.126G>C (p.Leu42=) | ClinVar dbSNP |
| 17 | g.80104712G>T | CA502177129 | GAA | c.126G>T (p.Leu42=) | |
| 17 | g.80104713A>C | CA401360300 | GAA | c.127A>C (p.Ser43Arg) | |
| 17 | g.80104713A>G | CA401360301 | GAA | c.127A>G (p.Ser43Gly) | |
| 17 | g.80104713A>T | CA401360299 | GAA | c.127A>T (p.Ser43Cys) | |
| 17 | g.80104714G>A | CA401360302 | GAA | c.128G>A (p.Ser43Asn) | gnomAD v4 |
| 17 | g.80104714G>C | CA401360303 | GAA | c.128G>C (p.Ser43Thr) | gnomAD v4 |
| 17 | g.80104714G>T | CA401360304 | GAA | c.128G>T (p.Ser43Ile) | |
| 17 | g.80104715T>A | CA401360305 | GAA | c.129T>A (p.Ser43Arg) | |
| 17 | g.80104715T>C | CA502177130 | GAA | c.129T>C (p.Ser43=) | gnomAD v4 |
| 17 | g.80104715T>G | CA401360306 | GAA | c.129T>G (p.Ser43Arg) | |
| 17 | g.80104716G>A | CA401360307 | GAA | c.130G>A (p.Gly44Ser) | |
| 17 | g.80104716G>C | CA401360308 | GAA | c.130G>C (p.Gly44Arg) | |
| 17 | g.80104716G>T | CA401360309 | GAA | c.130G>T (p.Gly44Cys) | |
| 17 | g.80104717G>A | CA401360310 | GAA | c.131G>A (p.Gly44Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80104717G>C | CA401360311 | GAA | c.131G>C (p.Gly44Ala) | |
| 17 | g.80104717G= | CA2277810599 | GAA | c.131G= (p.Gly44=) | |
| 17 | g.80104717G>T | CA8814793 | GAA | c.131G>T (p.Gly44Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80104718C>A | CA502177131 | GAA | c.132C>A (p.Gly44=) | |
| 17 | g.80104718C>G | CA502177132 | GAA | c.132C>G (p.Gly44=) | |
| 17 | g.80104718C>T | CA502177133 | GAA | c.132C>T (p.Gly44=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.80104719del | CA2695200346 | GAA | c.133del (p.Ser45ProfsTer?) |