Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.6718352C>A | CA403645244 | C3 | n.389G>T c.205G>T (p.Ala69Ser) c.328G>T (p.Ala110Ser) | |
19 | g.6718352C>G | CA403645245 | C3 | n.389G>C c.205G>C (p.Ala69Pro) c.328G>C (p.Ala110Pro) | |
19 | g.6718352C>T | CA403645246 | C3 | n.389G>A c.205G>A (p.Ala69Thr) c.328G>A (p.Ala110Thr) | |
19 | g.6718353C>A | CA403645247 | C3 | n.388G>T c.204G>T (p.Gln68His) c.327G>T (p.Gln109His) | gnomAD v4 |
19 | g.6718353C= | CA2320570635 | C3 | n.388G= c.204G= (p.Gln68=) c.327G= (p.Gln109=) | |
19 | g.6718353C>G | CA304803632 | C3 | n.388G>C c.204G>C (p.Gln68His) c.327G>C (p.Gln109His) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.6718353C>T | CA505125197 | C3 | n.388G>A c.204G>A (p.Gln68=) c.327G>A (p.Gln109=) | |
19 | g.6718354T>A | CA403645250 | C3 | n.387A>T c.203A>T (p.Gln68Leu) c.326A>T (p.Gln109Leu) | |
19 | g.6718354T>C | CA403645249 | C3 | n.387A>G c.203A>G (p.Gln68Arg) c.326A>G (p.Gln109Arg) | |
19 | g.6718354T>G | CA403645248 | C3 | n.387A>C c.203A>C (p.Gln68Pro) c.326A>C (p.Gln109Pro) | |
19 | g.6718355G>A | CA403645251 | C3 | n.386C>T c.202C>T (p.Gln68Ter) c.325C>T (p.Gln109Ter) | |
19 | g.6718355G>C | CA403645252 | C3 | n.386C>G c.202C>G (p.Gln68Glu) c.325C>G (p.Gln109Glu) | |
19 | g.6718355G>T | CA403645253 | C3 | n.386C>A c.202C>A (p.Gln68Lys) c.325C>A (p.Gln109Lys) | |
19 | g.6718356C>A | CA505125198 | C3 | n.385G>T c.201G>T (p.Val67=) c.324G>T (p.Val108=) | |
19 | g.6718356C>G | CA505125199 | C3 | n.385G>C c.201G>C (p.Val67=) c.324G>C (p.Val108=) | |
19 | g.6718356C>T | CA505125200 | C3 | n.385G>A c.201G>A (p.Val67=) c.324G>A (p.Val108=) | gnomAD v4 |
19 | g.6718357A>C | CA403645254 | C3 | n.384T>G c.200T>G (p.Val67Gly) c.323T>G (p.Val108Gly) | |
19 | g.6718357A>G | CA403645255 | C3 | n.384T>C c.200T>C (p.Val67Ala) c.323T>C (p.Val108Ala) | |
19 | g.6718357A>T | CA403645256 | C3 | n.384T>A c.200T>A (p.Val67Glu) c.323T>A (p.Val108Glu) | |
19 | g.6718358C>A | CA403645257 | C3 | n.383G>T c.199G>T (p.Val67Leu) c.322G>T (p.Val108Leu) | |
19 | g.6718358C= | CA2320570636 | C3 | n.383G= c.199G= (p.Val67=) c.322G= (p.Val108=) | |
19 | g.6718358C>G | CA403645258 | C3 | n.383G>C c.199G>C (p.Val67Leu) c.322G>C (p.Val108Leu) | gnomAD v4 |
19 | g.6718358C>T | CA9129844 | C3 | n.383G>A c.199G>A (p.Val67Met) c.322G>A (p.Val108Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6718359G>A | CA304803648 | C3 | n.382C>T c.198C>T (p.Thr66=) c.321C>T (p.Thr107=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.6718359G>C | CA9129845 | C3 | n.382C>G c.198C>G (p.Thr66=) c.321C>G (p.Thr107=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6718359G= | CA2320570637 | C3 | n.382C= c.198C= (p.Thr66=) c.321C= (p.Thr107=) | |
19 | g.6718359G>T | CA505125201 | C3 | n.382C>A c.198C>A (p.Thr66=) c.321C>A (p.Thr107=) | COSMIC |
19 | g.6718360G>A | CA403645259 | C3 | n.381C>T c.197C>T (p.Thr66Ile) c.320C>T (p.Thr107Ile) | |
19 | g.6718360G>C | CA403645260 | C3 | n.381C>G c.197C>G (p.Thr66Ser) c.320C>G (p.Thr107Ser) | |
19 | g.6718360G>T | CA403645261 | C3 | n.381C>A c.197C>A (p.Thr66Asn) c.320C>A (p.Thr107Asn) | |
19 | g.6718361T>A | CA403645262 | C3 | n.380A>T c.196A>T (p.Thr66Ser) c.319A>T (p.Thr107Ser) | gnomAD v4 |
19 | g.6718361T>C | CA403645263 | C3 | n.380A>G c.196A>G (p.Thr66Ala) c.319A>G (p.Thr107Ala) | |
19 | g.6718361T>G | CA403645264 | C3 | n.380A>C c.196A>C (p.Thr66Pro) c.319A>C (p.Thr107Pro) | |
19 | g.6718362C>A | CA505125202 | C3 | n.379G>T c.195G>T (p.Val65=) c.318G>T (p.Val106=) | |
19 | g.6718362C>G | CA505125204 | C3 | n.379G>C c.195G>C (p.Val65=) c.318G>C (p.Val106=) | ClinVar gnomAD v4 |
19 | g.6718362C>T | CA505125203 | C3 | n.379G>A c.195G>A (p.Val65=) c.318G>A (p.Val106=) | |
19 | g.6718362dup | CA2587880778 | C3 | n.379dup c.195dup (p.Thr66AspfsTer?) c.318dup (p.Thr107AspfsTer?) | gnomAD v4 |
19 | g.6718363A>C | CA403645265 | C3 | n.378T>G c.194T>G (p.Val65Gly) c.317T>G (p.Val106Gly) | |
19 | g.6718363A>G | CA403645266 | C3 | n.378T>C c.194T>C (p.Val65Ala) c.317T>C (p.Val106Ala) | |
19 | g.6718363A>T | CA403645267 | C3 | n.378T>A c.194T>A (p.Val65Glu) c.317T>A (p.Val106Glu) | |
19 | g.6718364C>A | CA403645269 | C3 | n.377G>T c.193G>T (p.Val65Leu) c.316G>T (p.Val106Leu) | |
19 | g.6718364C>G | CA403645270 | C3 | n.377G>C c.193G>C (p.Val65Leu) c.316G>C (p.Val106Leu) | gnomAD v4 |
19 | g.6718364C>T | CA403645268 | C3 | n.377G>A c.193G>A (p.Val65Met) c.316G>A (p.Val106Met) | |
19 | g.6718365G>A | CA505125205 | C3 | n.376C>T c.192C>T (p.Phe64=) c.315C>T (p.Phe105=) | |
19 | g.6718365G>C | CA403645272 | C3 | n.376C>G c.192C>G (p.Phe64Leu) c.315C>G (p.Phe105Leu) | ClinVar |
19 | g.6718365G>T | CA403645271 | C3 | n.376C>A c.192C>A (p.Phe64Leu) c.315C>A (p.Phe105Leu) | |
19 | g.6718366A>C | CA403645275 | C3 | n.375T>G c.191T>G (p.Phe64Cys) c.314T>G (p.Phe105Cys) | |
19 | g.6718366A>G | CA403645273 | C3 | n.375T>C c.191T>C (p.Phe64Ser) c.314T>C (p.Phe105Ser) | gnomAD v4 |
19 | g.6718366A>T | CA403645274 | C3 | n.375T>A c.191T>A (p.Phe64Tyr) c.314T>A (p.Phe105Tyr) | |
19 | g.6718367A= | CA2320570638 | C3 | n.374T= c.190T= (p.Phe64=) c.313T= (p.Phe105=) |