| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.73196633C>A | CA400883369 | COG1 | c.442C>A (p.Leu148Met) c.440C>A c.439C>A | |
| 17 | g.73196633C>G | CA400883371 | COG1 | c.442C>G (p.Leu148Val) c.440C>G c.439C>G | |
| 17 | g.73196633C>T | CA502026283 | COG1 | c.442C>T (p.Leu148=) c.440C>T c.439C>T | gnomAD v4 |
| 17 | g.73196634T>A | CA400883373 | COG1 | c.443T>A (p.Leu148Gln) c.441T>A c.440T>A | |
| 17 | g.73196634T>C | CA400883374 | COG1 | c.443T>C (p.Leu148Pro) c.441T>C c.440T>C | |
| 17 | g.73196634T>G | CA400883376 | COG1 | c.443T>G (p.Leu148Arg) c.441T>G c.440T>G | |
| 17 | g.73196635G>A | CA502026286 | COG1 | c.444G>A (p.Leu148=) c.442G>A c.441G>A | |
| 17 | g.73196635G>C | CA502026285 | COG1 | c.444G>C (p.Leu148=) c.442G>C c.441G>C | |
| 17 | g.73196635G>T | CA502026284 | COG1 | c.444G>T (p.Leu148=) c.442G>T c.441G>T | |
| 17 | g.73196636C>A | CA400883378 | COG1 | c.445C>A (p.Leu149Ile) c.443C>A c.442C>A | |
| 17 | g.73196636C= | CA2274431988 | COG1 | c.445C= (p.Leu149=) c.443C= c.442C= | |
| 17 | g.73196636C>G | CA400883381 | COG1 | c.445C>G (p.Leu149Val) c.443C>G c.442C>G | |
| 17 | g.73196636C>T | CA8739964 | COG1 | c.445C>T (p.Leu149Phe) c.443C>T c.442C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196637T>A | CA400883383 | COG1 | c.446T>A (p.Leu149His) c.444T>A c.443T>A | |
| 17 | g.73196637T>C | CA400883384 | COG1 | c.446T>C (p.Leu149Pro) c.444T>C c.443T>C | gnomAD v4 |
| 17 | g.73196637T>G | CA400883386 | COG1 | c.446T>G (p.Leu149Arg) c.444T>G c.443T>G | |
| 17 | g.73196638C>A | CA502026141 | COG1 | c.447C>A (p.Leu149=) c.445C>A c.444C>A | |
| 17 | g.73196638C= | CA2274431989 | COG1 | c.447C= (p.Leu149=) c.445C= c.444C= | |
| 17 | g.73196638C>G | CA502026140 | COG1 | c.447C>G (p.Leu149=) c.445C>G c.444C>G | |
| 17 | g.73196638C>T | CA502026139 | COG1 | c.447C>T (p.Leu149=) c.445C>T c.444C>T | dbSNP gnomAD v2 |
| 17 | g.73196639T>A | CA8739965 | COG1 | c.448T>A (p.Cys150Ser) c.446T>A c.445T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.73196639T>C | CA400883392 | COG1 | c.448T>C (p.Cys150Arg) c.446T>C c.445T>C | |
| 17 | g.73196639T>G | CA400883394 | COG1 | c.448T>G (p.Cys150Gly) c.446T>G c.445T>G | |
| 17 | g.73196639T= | CA2274431990 | COG1 | c.448T= (p.Cys150=) c.446T= c.445T= | |
| 17 | g.73196640G>A | CA400883396 | COG1 | c.449G>A (p.Cys150Tyr) c.447G>A c.446G>A | |
| 17 | g.73196640G>C | CA400883398 | COG1 | c.449G>C (p.Cys150Ser) c.447G>C c.446G>C | |
| 17 | g.73196640G>T | CA400883400 | COG1 | c.449G>T (p.Cys150Phe) c.447G>T c.446G>T | |
| 17 | g.73196641C>A | CA400883402 | COG1 | c.450C>A (p.Cys150Ter) c.448C>A c.447C>A | |
| 17 | g.73196641C>G | CA400883403 | COG1 | c.450C>G (p.Cys150Trp) c.448C>G c.447C>G | |
| 17 | g.73196641C>T | CA502026142 | COG1 | c.450C>T (p.Cys150=) c.448C>T c.447C>T | |
| 17 | g.73196642T>A | CA400883405 | COG1 | c.451T>A (p.Cys151Ser) c.449T>A c.448T>A | |
| 17 | g.73196642T>C | CA400883409 | COG1 | c.451T>C (p.Cys151Arg) c.449T>C c.448T>C | |
| 17 | g.73196642T>G | CA400883407 | COG1 | c.451T>G (p.Cys151Gly) c.449T>G c.448T>G | COSMIC |
| 17 | g.73196643G>A | CA400883411 | COG1 | c.452G>A (p.Cys151Tyr) c.450G>A c.449G>A | |
| 17 | g.73196643G>C | CA400883413 | COG1 | c.452G>C (p.Cys151Ser) c.450G>C c.449G>C | |
| 17 | g.73196643G>T | CA400883415 | COG1 | c.452G>T (p.Cys151Phe) c.450G>T c.449G>T | |
| 17 | g.73196644C>A | CA400883417 | COG1 | c.453C>A (p.Cys151Ter) c.451C>A c.450C>A | |
| 17 | g.73196644C>G | CA400883419 | COG1 | c.453C>G (p.Cys151Trp) c.451C>G c.450C>G | |
| 17 | g.73196644C>T | CA502026143 | COG1 | c.453C>T (p.Cys151=) c.451C>T c.450C>T | |
| 17 | g.73196645C>A | CA400883421 | COG1 | c.454C>A (p.His152Asn) c.452C>A c.451C>A | |
| 17 | g.73196645C= | CA2274431991 | COG1 | c.454C= (p.His152=) c.452C= c.451C= | |
| 17 | g.73196645C>G | CA400883422 | COG1 | c.454C>G (p.His152Asp) c.452C>G c.451C>G | |
| 17 | g.73196645C>T | CA8739966 | COG1 | c.454C>T (p.His152Tyr) c.452C>T c.451C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196646A= | CA2274431992 | COG1 | c.455A= (p.His152=) c.453A= c.452A= | |
| 17 | g.73196646A>C | CA400883424 | COG1 | c.455A>C (p.His152Pro) c.453A>C c.452A>C | dbSNP |
| 17 | g.73196646A>G | CA400883426 | COG1 | c.455A>G (p.His152Arg) c.453A>G c.452A>G | |
| 17 | g.73196646A>T | CA400883428 | COG1 | c.455A>T (p.His152Leu) c.453A>T c.452A>T | |
| 17 | g.73196646dup | CA774876263 | COG1 | c.455dup (p.His152GlnfsTer12) c.453dup c.452dup | dbSNP |
| 17 | g.73196647C>A | CA400883430 | COG1 | c.456C>A (p.His152Gln) c.454C>A c.453C>A | |
| 17 | g.73196647C>G | CA400883431 | COG1 | c.456C>G (p.His152Gln) c.454C>G c.453C>G |