UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.6718336T>A | CA403645213 | C3 | n.405A>T c.221A>T (p.Gln74Leu) c.344A>T (p.Gln115Leu) | |
| 19 | g.6718336T>C | CA403645212 | C3 | n.405A>G c.221A>G (p.Gln74Arg) c.344A>G (p.Gln115Arg) | |
| 19 | g.6718336T>G | CA403645211 | C3 | n.405A>C c.221A>C (p.Gln74Pro) c.344A>C (p.Gln115Pro) | |
| 19 | g.6718337G>A | CA403645214 | C3 | n.404C>T c.220C>T (p.Gln74Ter) c.343C>T (p.Gln115Ter) | |
| 19 | g.6718337G>C | CA403645216 | C3 | n.404C>G c.220C>G (p.Gln74Glu) c.343C>G (p.Gln115Glu) | |
| 19 | g.6718337G= | CA2320570628 | C3 | n.404C= c.220C= (p.Gln74=) c.343C= (p.Gln115=) | |
| 19 | g.6718337G>T | CA403645215 | C3 | n.404C>A c.220C>A (p.Gln74Lys) c.343C>A (p.Gln115Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.6718338G>A | CA505125185 | C3 | n.403C>T c.219C>T (p.Thr73=) c.342C>T (p.Thr114=) | dbSNP gnomAD v4 |
| 19 | g.6718338G>C | CA505125186 | C3 | n.403C>G c.219C>G (p.Thr73=) c.342C>G (p.Thr114=) | gnomAD v4 |
| 19 | g.6718338G= | CA2320570629 | C3 | n.403C= c.219C= (p.Thr73=) c.342C= (p.Thr114=) | |
| 19 | g.6718338G>T | CA505125187 | C3 | n.403C>A c.219C>A (p.Thr73=) c.342C>A (p.Thr114=) | |
| 19 | g.6718339G>A | CA9129842 | C3 | n.402C>T c.218C>T (p.Thr73Ile) c.341C>T (p.Thr114Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.6718339G>C | CA403645217 | C3 | n.402C>G c.218C>G (p.Thr73Ser) c.341C>G (p.Thr114Ser) | |
| 19 | g.6718339G= | CA2320570630 | C3 | n.402C= c.218C= (p.Thr73=) c.341C= (p.Thr114=) | |
| 19 | g.6718339G>T | CA403645218 | C3 | n.402C>A c.218C>A (p.Thr73Asn) c.341C>A (p.Thr114Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.6718340T>A | CA403645219 | C3 | n.401A>T c.217A>T (p.Thr73Ser) c.340A>T (p.Thr114Ser) | |
| 19 | g.6718340T>C | CA304803624 | C3 | n.401A>G c.217A>G (p.Thr73Ala) c.340A>G (p.Thr114Ala) | dbSNP gnomAD v4 |
| 19 | g.6718340T>G | CA403645220 | C3 | n.401A>C c.217A>C (p.Thr73Pro) c.340A>C (p.Thr114Pro) | COSMIC |
| 19 | g.6718340T= | CA2320570631 | C3 | n.401A= c.217A= (p.Thr73=) c.340A= (p.Thr114=) | |
| 19 | g.6718341C>A | CA505125188 | C3 | n.400G>T c.216G>T (p.Gly72=) c.339G>T (p.Gly113=) | |
| 19 | g.6718341C>G | CA505125189 | C3 | n.400G>C c.216G>C (p.Gly72=) c.339G>C (p.Gly113=) | |
| 19 | g.6718341C>T | CA505125190 | C3 | n.400G>A c.216G>A (p.Gly72=) c.339G>A (p.Gly113=) | |
| 19 | g.6718342C>A | CA403645221 | C3 | n.399G>T c.215G>T (p.Gly72Val) c.338G>T (p.Gly113Val) | |
| 19 | g.6718342C>G | CA403645222 | C3 | n.399G>C c.215G>C (p.Gly72Ala) c.338G>C (p.Gly113Ala) | |
| 19 | g.6718342C>T | CA403645223 | C3 | n.399G>A c.215G>A (p.Gly72Glu) c.338G>A (p.Gly113Glu) | |
| 19 | g.6718343C>A | CA403645224 | C3 | n.398G>T c.214G>T (p.Gly72Trp) c.337G>T (p.Gly113Trp) | |
| 19 | g.6718343C>G | CA403645225 | C3 | n.398G>C c.214G>C (p.Gly72Arg) c.337G>C (p.Gly113Arg) | |
| 19 | g.6718343C>T | CA403645226 | C3 | n.398G>A c.214G>A (p.Gly72Arg) c.337G>A (p.Gly113Arg) | |
| 19 | g.6718344G>A | CA505125191 | C3 | n.397C>T c.213C>T (p.Phe71=) c.336C>T (p.Phe112=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.6718344G>C | CA403645227 | C3 | n.397C>G c.213C>G (p.Phe71Leu) c.336C>G (p.Phe112Leu) | |
| 19 | g.6718344G= | CA2320570632 | C3 | n.397C= c.213C= (p.Phe71=) c.336C= (p.Phe112=) | |
| 19 | g.6718344G>T | CA403645228 | C3 | n.397C>A c.213C>A (p.Phe71Leu) c.336C>A (p.Phe112Leu) | |
| 19 | g.6718345A>C | CA403645229 | C3 | n.396T>G c.212T>G (p.Phe71Cys) c.335T>G (p.Phe112Cys) | |
| 19 | g.6718345A>G | CA403645230 | C3 | n.396T>C c.212T>C (p.Phe71Ser) c.335T>C (p.Phe112Ser) | |
| 19 | g.6718345A>T | CA403645231 | C3 | n.396T>A c.212T>A (p.Phe71Tyr) c.335T>A (p.Phe112Tyr) | |
| 19 | g.6718346A= | CA2320570633 | C3 | n.395T= c.211T= (p.Phe71=) c.334T= (p.Phe112=) | |
| 19 | g.6718346A>C | CA403645232 | C3 | n.395T>G c.211T>G (p.Phe71Val) c.334T>G (p.Phe112Val) | dbSNP |
| 19 | g.6718346A>G | CA403645233 | C3 | n.395T>C c.211T>C (p.Phe71Leu) c.334T>C (p.Phe112Leu) | |
| 19 | g.6718346A>T | CA403645234 | C3 | n.395T>A c.211T>A (p.Phe71Ile) c.334T>A (p.Phe112Ile) | |
| 19 | g.6718347G>A | CA505125192 | C3 | n.394C>T c.210C>T (p.Thr70=) c.333C>T (p.Thr111=) | |
| 19 | g.6718347G>C | CA505125193 | C3 | n.394C>G c.210C>G (p.Thr70=) c.333C>G (p.Thr111=) | |
| 19 | g.6718347G>T | CA505125194 | C3 | n.394C>A c.210C>A (p.Thr70=) c.333C>A (p.Thr111=) | |
| 19 | g.6718348G>A | CA403645235 | C3 | n.393C>T c.209C>T (p.Thr70Ile) c.332C>T (p.Thr111Ile) | |
| 19 | g.6718348G>C | CA403645236 | C3 | n.393C>G c.209C>G (p.Thr70Ser) c.332C>G (p.Thr111Ser) | gnomAD v4 |
| 19 | g.6718348G>T | CA403645237 | C3 | n.393C>A c.209C>A (p.Thr70Asn) c.332C>A (p.Thr111Asn) | |
| 19 | g.6718349T>A | CA403645238 | C3 | n.392A>T c.208A>T (p.Thr70Ser) c.331A>T (p.Thr111Ser) | |
| 19 | g.6718349T>C | CA403645239 | C3 | n.392A>G c.208A>G (p.Thr70Ala) c.331A>G (p.Thr111Ala) | |
| 19 | g.6718349T>G | CA403645240 | C3 | n.392A>C c.208A>C (p.Thr70Pro) c.331A>C (p.Thr111Pro) | |
| 19 | g.6718350G>A | CA9129843 | C3 | n.391C>T c.207C>T (p.Ala69=) c.330C>T (p.Ala110=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.6718350G>C | CA505125195 | C3 | n.391C>G c.207C>G (p.Ala69=) c.330C>G (p.Ala110=) | |
| 19 | g.6718350G= | CA2320570634 | C3 | n.391C= c.207C= (p.Ala69=) c.330C= (p.Ala110=) | |
| 19 | g.6718350G>T | CA505125196 | C3 | n.391C>A c.207C>A (p.Ala69=) c.330C>A (p.Ala110=) | |
| 19 | g.6718351G>A | CA403645241 | C3 | n.390C>T c.206C>T (p.Ala69Val) c.329C>T (p.Ala110Val) | |
| 19 | g.6718351G>C | CA403645243 | C3 | n.390C>G c.206C>G (p.Ala69Gly) c.329C>G (p.Ala110Gly) | |
| 19 | g.6718351G>T | CA403645242 | C3 | n.390C>A c.206C>A (p.Ala69Asp) c.329C>A (p.Ala110Asp) | |
| 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=) | |
| 19 | g.6718367A>C | CA403645276 | C3 | n.374T>G c.190T>G (p.Phe64Val) c.313T>G (p.Phe105Val) | |
| 19 | g.6718367A>G | CA9129846 | C3 | n.374T>C c.190T>C (p.Phe64Leu) c.313T>C (p.Phe105Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.6718367A>T | CA403645277 | C3 | n.374T>A c.190T>A (p.Phe64Ile) c.313T>A (p.Phe105Ile) | |
| 19 | g.6718368C>A | CA403645278 | C3 | n.373G>T c.189G>T (p.Lys63Asn) c.312G>T (p.Lys104Asn) | |
| 19 | g.6718368C>G | CA403645279 | C3 | n.373G>C c.189G>C (p.Lys63Asn) c.312G>C (p.Lys104Asn) | |
| 19 | g.6718368C>T | CA505125206 | C3 | n.373G>A c.189G>A (p.Lys63=) c.312G>A (p.Lys104=) | |
| 19 | g.6718369T>A | CA403645282 | C3 | n.372A>T c.188A>T (p.Lys63Met) c.311A>T (p.Lys104Met) | |
| 19 | g.6718369T>C | CA403645280 | C3 | n.372A>G c.188A>G (p.Lys63Arg) c.311A>G (p.Lys104Arg) | |
| 19 | g.6718369T>G | CA403645281 | C3 | n.372A>C c.188A>C (p.Lys63Thr) c.311A>C (p.Lys104Thr) | |
| 19 | g.6718370T>A | CA403645283 | C3 | n.371A>T c.187A>T (p.Lys63Ter) c.310A>T (p.Lys104Ter) | |
| 19 | g.6718370T>C | CA403645284 | C3 | n.371A>G c.187A>G (p.Lys63Glu) c.310A>G (p.Lys104Glu) | ClinVar dbSNP gnomAD v4 |
| 19 | g.6718370T>G | CA403645285 | C3 | n.371A>C c.187A>C (p.Lys63Gln) c.310A>C (p.Lys104Gln) | |
| 19 | g.6718370T= | CA2320570639 | C3 | n.371A= c.187A= (p.Lys63=) c.310A= (p.Lys104=) | |
| 19 | g.6718371G>A | CA505125207 | C3 | n.370C>T c.186C>T (p.Asn62=) c.309C>T (p.Asn103=) | |
| 19 | g.6718371G>C | CA403645286 | C3 | n.370C>G c.186C>G (p.Asn62Lys) c.309C>G (p.Asn103Lys) | |
| 19 | g.6718371G>T | CA403645287 | C3 | n.370C>A c.186C>A (p.Asn62Lys) c.309C>A (p.Asn103Lys) | |
| 19 | g.6718372T>A | CA403645290 | C3 | n.369A>T c.185A>T (p.Asn62Ile) c.308A>T (p.Asn103Ile) | |
| 19 | g.6718372T>C | CA403645288 | C3 | n.369A>G c.185A>G (p.Asn62Ser) c.308A>G (p.Asn103Ser) | |
| 19 | g.6718372T>G | CA403645289 | C3 | n.369A>C c.185A>C (p.Asn62Thr) c.308A>C (p.Asn103Thr) | |
| 19 | g.6718373T>A | CA403645291 | C3 | n.368A>T c.184A>T (p.Asn62Tyr) c.307A>T (p.Asn103Tyr) | |
| 19 | g.6718373T>C | CA403645292 | C3 | n.368A>G c.184A>G (p.Asn62Asp) c.307A>G (p.Asn103Asp) | |
| 19 | g.6718373T>G | CA403645293 | C3 | n.368A>C c.184A>C (p.Asn62His) c.307A>C (p.Asn103His) | dbSNP |
| 19 | g.6718373T= | CA2320570640 | C3 | n.368A= c.184A= (p.Asn62=) c.307A= (p.Asn103=) | |
| 19 | g.6718374G>A | CA505125208 | C3 | n.367C>T c.183C>T (p.Arg61=) c.306C>T (p.Arg102=) | |
| 19 | g.6718374G>C | CA505125210 | C3 | n.367C>G c.183C>G (p.Arg61=) c.306C>G (p.Arg102=) | |
| 19 | g.6718374G= | CA2320570641 | C3 | n.367C= c.183C= (p.Arg61=) c.306C= (p.Arg102=) | |
| 19 | g.6718374G>T | CA505125209 | C3 | n.367C>A c.183C>A (p.Arg61=) c.306C>A (p.Arg102=) | |
| 19 | g.6718375C>A | CA403645294 | C3 | n.366G>T c.182G>T (p.Arg61Leu) c.305G>T (p.Arg102Leu) | gnomAD v4 |
| 19 | g.6718375C= | CA2320570642 | C3 | n.366G= c.182G= (p.Arg61=) c.305G= (p.Arg102=) | |
| 19 | g.6718375C>G | CA403645295 | C3 | n.366G>C c.182G>C (p.Arg61Pro) c.305G>C (p.Arg102Pro) | |
| 19 | g.6718375C>T | CA9129848 | C3 | n.366G>A c.182G>A (p.Arg61His) c.305G>A (p.Arg102His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.6718375dup | CA9129847 | C3 | n.366dup c.182dup (p.Asn62GlnfsTer?) c.305dup (p.Asn103GlnfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.6718376G>A | CA403645296 | C3 | n.365C>T c.181C>T (p.Arg61Cys) c.304C>T (p.Arg102Cys) | dbSNP gnomAD v4 |
| 19 | g.6718376G>C | CA127061 | C3 | n.365C>G c.181C>G (p.Arg61Gly) c.304C>G (p.Arg102Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.6718376G= | CA2320570643 | C3 | n.365C= c.181C= (p.Arg61=) c.304C= (p.Arg102=) | |
| 19 | g.6718376G>T | CA304803676 | C3 | n.365C>A c.181C>A (p.Arg61Ser) c.304C>A (p.Arg102Ser) | dbSNP gnomAD v4 |
| 19 | g.6718376_6718377delinsCT | CA2697556137 | C3 | n.364_365delinsAG c.180_181delinsAG (p.Arg61Gly) c.303_304delinsAG (p.Arg102Gly) | ClinVar |
| 19 | g.6718377C>A | CA505125211 | C3 | n.364G>T c.180G>T (p.Gly60=) c.303G>T (p.Gly101=) | |
| 19 | g.6718377C>G | CA505125212 | C3 | n.364G>C c.180G>C (p.Gly60=) c.303G>C (p.Gly101=) | |
| 19 | g.6718377C>T | CA505125213 | C3 | n.364G>A c.180G>A (p.Gly60=) c.303G>A (p.Gly101=) | |
| 19 | g.6718378C>A | CA403645297 | C3 | n.363G>T c.179G>T (p.Gly60Val) c.302G>T (p.Gly101Val) | |
| 19 | g.6718378C= | CA2320570644 | C3 | n.363G= c.179G= (p.Gly60=) c.302G= (p.Gly101=) | |
| 19 | g.6718378C>G | CA403645298 | C3 | n.363G>C c.179G>C (p.Gly60Ala) c.302G>C (p.Gly101Ala) | |
| 19 | g.6718378C>T | CA9129849 | C3 | n.363G>A c.179G>A (p.Gly60Glu) c.302G>A (p.Gly101Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.6718379C>A | CA403645299 | C3 | n.362G>T c.178G>T (p.Gly60Trp) c.301G>T (p.Gly101Trp) | |
| 19 | g.6718379C>G | CA403645301 | C3 | n.362G>C c.178G>C (p.Gly60Arg) c.301G>C (p.Gly101Arg) | |
| 19 | g.6718379C>T | CA403645300 | C3 | n.362G>A c.178G>A (p.Gly60Arg) c.301G>A (p.Gly101Arg) | |
| 19 | g.6718380C>A | CA403645302 | C3 | n.361G>T c.177G>T (p.Lys59Asn) c.300G>T (p.Lys100Asn) | |
| 19 | g.6718380C= | CA2320570645 | C3 | n.361G= c.177G= (p.Lys59=) c.300G= (p.Lys100=) | |
| 19 | g.6718380C>G | CA403645303 | C3 | n.361G>C c.177G>C (p.Lys59Asn) c.300G>C (p.Lys100Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.6718380C>T | CA505125214 | C3 | n.361G>A c.177G>A (p.Lys59=) c.300G>A (p.Lys100=) | dbSNP |
| 19 | g.6718381T>A | CA403645304 | C3 | n.360A>T c.176A>T (p.Lys59Met) c.299A>T (p.Lys100Met) | |
| 19 | g.6718381T>C | CA403645305 | C3 | n.360A>G c.176A>G (p.Lys59Arg) c.299A>G (p.Lys100Arg) | COSMIC |
| 19 | g.6718381T>G | CA403645306 | C3 | n.360A>C c.176A>C (p.Lys59Thr) c.299A>C (p.Lys100Thr) | |
| 19 | g.6718382T>A | CA403645307 | C3 | n.359A>T c.175A>T (p.Lys59Ter) c.298A>T (p.Lys100Ter) | |
| 19 | g.6718382T>C | CA403645308 | C3 | n.359A>G c.175A>G (p.Lys59Glu) c.298A>G (p.Lys100Glu) | |
| 19 | g.6718382T>G | CA403645309 | C3 | n.359A>C c.175A>C (p.Lys59Gln) c.298A>C (p.Lys100Gln) | |
| 19 | g.6718383T>A | CA403645310 | C3 | n.358A>T c.174A>T (p.Glu58Asp) c.297A>T (p.Glu99Asp) | |
| 19 | g.6718383T>C | CA505125215 | C3 | n.358A>G c.174A>G (p.Glu58=) c.297A>G (p.Glu99=) | |
| 19 | g.6718383T>G | CA403645311 | C3 | n.358A>C c.174A>C (p.Glu58Asp) c.297A>C (p.Glu99Asp) | |
| 19 | g.6718384T>A | CA403645312 | C3 | n.357A>T c.173A>T (p.Glu58Val) c.296A>T (p.Glu99Val) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.6718384T>C | CA403645313 | C3 | n.357A>G c.173A>G (p.Glu58Gly) c.296A>G (p.Glu99Gly) | |
| 19 | g.6718384T>G | CA403645314 | C3 | n.357A>C c.173A>C (p.Glu58Ala) c.296A>C (p.Glu99Ala) | |
| 19 | g.6718384T= | CA2320570646 | C3 | n.357A= c.173A= (p.Glu58=) c.296A= (p.Glu99=) | |
| 19 | g.6718385C>A | CA403645317 | C3 | n.356G>T c.172G>T (p.Glu58Ter) c.295G>T (p.Glu99Ter) | |
| 19 | g.6718385C>G | CA403645315 | C3 | n.356G>C c.172G>C (p.Glu58Gln) c.295G>C (p.Glu99Gln) | |
| 19 | g.6718385C>T | CA403645316 | C3 | n.356G>A c.172G>A (p.Glu58Lys) c.295G>A (p.Glu99Lys) | gnomAD v4 |
| 19 | g.6718386T>A | CA505125216 | C3 | n.355A>T c.171A>T (p.Ser57=) c.294A>T (p.Ser98=) | |
| 19 | g.6718386T>C | CA505125217 | C3 | n.355A>G c.171A>G (p.Ser57=) c.294A>G (p.Ser98=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.6718386T>G | CA505125218 | C3 | n.355A>C c.171A>C (p.Ser57=) c.294A>C (p.Ser98=) | |
| 19 | g.6718386T= | CA2320570647 | C3 | n.355A= c.171A= (p.Ser57=) c.294A= (p.Ser98=) | |
| 19 | g.6718387G>A | CA403645318 | C3 | n.354C>T c.170C>T (p.Ser57Leu) c.293C>T (p.Ser98Leu) | |
| 19 | g.6718387G>C | CA403645319 | C3 | n.354C>G c.170C>G (p.Ser57Ter) c.293C>G (p.Ser98Ter) | |
| 19 | g.6718387G>T | CA403645320 | C3 | n.354C>A c.170C>A (p.Ser57Ter) c.293C>A (p.Ser98Ter) | |
| 19 | g.6718388A>C | CA403645321 | C3 | n.353T>G c.169T>G (p.Ser57Ala) c.292T>G (p.Ser98Ala) | |
| 19 | g.6718388A>G | CA403645322 | C3 | n.353T>C c.169T>C (p.Ser57Pro) c.292T>C (p.Ser98Pro) | |
| 19 | g.6718388A>T | CA403645323 | C3 | n.353T>A c.169T>A (p.Ser57Thr) c.292T>A (p.Ser98Thr) | |
| 19 | g.6718389C>A | CA403645324 | C3 | n.352G>T c.168G>T (p.Lys56Asn) c.291G>T (p.Lys97Asn) | |
| 19 | g.6718389C= | CA2320570648 | C3 | n.352G= c.168G= (p.Lys56=) c.291G= (p.Lys97=) | |
| 19 | g.6718389C>G | CA403645325 | C3 | n.352G>C c.168G>C (p.Lys56Asn) c.291G>C (p.Lys97Asn) | |
| 19 | g.6718389C>T | CA304803690 | C3 | n.352G>A c.168G>A (p.Lys56=) c.291G>A (p.Lys97=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.6718390T>A | CA403645326 | C3 | n.351A>T c.167A>T (p.Lys56Met) c.290A>T (p.Lys97Met) | |
| 19 | g.6718390T>C | CA403645327 | C3 | n.351A>G c.167A>G (p.Lys56Arg) c.290A>G (p.Lys97Arg) | |
| 19 | g.6718390T>G | CA403645328 | C3 | n.351A>C c.167A>C (p.Lys56Thr) c.290A>C (p.Lys97Thr) | |
| 19 | g.6718391T>A | CA403645329 | C3 | n.350A>T c.166A>T (p.Lys56Ter) c.289A>T (p.Lys97Ter) | |
| 19 | g.6718391T>C | CA403645331 | C3 | n.350A>G c.166A>G (p.Lys56Glu) c.289A>G (p.Lys97Glu) | |
| 19 | g.6718391T>G | CA403645330 | C3 | n.350A>C c.166A>C (p.Lys56Gln) c.289A>C (p.Lys97Gln) | gnomAD v4 |
| 19 | g.6718392G>A | CA505125219 | C3 | n.349C>T c.165C>T (p.Phe55=) c.288C>T (p.Phe96=) | |
| 19 | g.6718392G>C | CA403645332 | C3 | n.349C>G c.165C>G (p.Phe55Leu) c.288C>G (p.Phe96Leu) | |
| 19 | g.6718392G>T | CA403645333 | C3 | n.349C>A c.165C>A (p.Phe55Leu) c.288C>A (p.Phe96Leu) | |
| 19 | g.6718393A>C | CA403645334 | C3 | n.348T>G c.164T>G (p.Phe55Cys) c.287T>G (p.Phe96Cys) | |
| 19 | g.6718393A>G | CA403645335 | C3 | n.348T>C c.164T>C (p.Phe55Ser) c.287T>C (p.Phe96Ser) | |
| 19 | g.6718393A>T | CA403645336 | C3 | n.348T>A c.164T>A (p.Phe55Tyr) c.287T>A (p.Phe96Tyr) | |
| 19 | g.6718394A>C | CA403645337 | C3 | n.347T>G c.163T>G (p.Phe55Val) c.286T>G (p.Phe96Val) | gnomAD v3 gnomAD v4 |
| 19 | g.6718394A>G | CA403645338 | C3 | n.347T>C c.163T>C (p.Phe55Leu) c.286T>C (p.Phe96Leu) | |
| 19 | g.6718394A>T | CA403645339 | C3 | n.347T>A c.163T>A (p.Phe55Ile) c.286T>A (p.Phe96Ile) | gnomAD v3 gnomAD v4 |
| 19 | g.6718395C>A | CA403645340 | C3 | n.346G>T c.162G>T (p.Glu54Asp) c.285G>T (p.Glu95Asp) | |
| 19 | g.6718395C= | CA2320570649 | C3 | n.346G= c.162G= (p.Glu54=) c.285G= (p.Glu95=) | |
| 19 | g.6718395C>G | CA403645341 | C3 | n.346G>C c.162G>C (p.Glu54Asp) c.285G>C (p.Glu95Asp) | gnomAD v4 |
| 19 | g.6718395C>T | CA505125220 | C3 | n.346G>A c.162G>A (p.Glu54=) c.285G>A (p.Glu95=) | dbSNP gnomAD v4 |
| 19 | g.6718395_6718396insCCCC | CA2813446912 | C3 | n.346_347insGGGG c.162_163insGGGG (p.Phe55GlyfsTer?) c.285_286insGGGG (p.Phe96GlyfsTer?) | |
| 19 | g.6718396T>A | CA403645342 | C3 | n.345A>T c.161A>T (p.Glu54Val) c.284A>T (p.Glu95Val) | |
| 19 | g.6718396T>C | CA403645343 | C3 | n.345A>G c.161A>G (p.Glu54Gly) c.284A>G (p.Glu95Gly) | |
| 19 | g.6718396T>G | CA403645344 | C3 | n.345A>C c.161A>C (p.Glu54Ala) c.284A>C (p.Glu95Ala) | |
| 19 | g.6718397C>A | CA403645346 | C3 | n.344G>T c.160G>T (p.Glu54Ter) c.283G>T (p.Glu95Ter) | |
| 19 | g.6718397C= | CA2320570650 | C3 | n.344G= c.160G= (p.Glu54=) c.283G= (p.Glu95=) | |
| 19 | g.6718397C>G | CA403645345 | C3 | n.344G>C c.160G>C (p.Glu54Gln) c.283G>C (p.Glu95Gln) | |
| 19 | g.6718397C>T | CA9129850 | C3 | n.344G>A c.160G>A (p.Glu54Lys) c.283G>A (p.Glu95Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.6718398C>A | CA403645347 | C3 | n.343G>T c.159G>T (p.Arg53Ser) c.282G>T (p.Arg94Ser) | |
| 19 | g.6718398C= | CA2320570651 | C3 | n.343G= c.159G= (p.Arg53=) c.282G= (p.Arg94=) | |
| 19 | g.6718398C>G | CA403645348 | C3 | n.343G>C c.159G>C (p.Arg53Ser) c.282G>C (p.Arg94Ser) | |
| 19 | g.6718398C>T | CA9129851 | C3 | n.343G>A c.159G>A (p.Arg53=) c.282G>A (p.Arg94=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.6718399C>A | CA403645349 | C3 | n.342G>T c.158G>T (p.Arg53Met) c.281G>T (p.Arg94Met) | |
| 19 | g.6718399C= | CA2320570652 | C3 | n.342G= c.158G= (p.Arg53=) c.281G= (p.Arg94=) | |
| 19 | g.6718399C>G | CA403645350 | C3 | n.342G>C c.158G>C (p.Arg53Thr) c.281G>C (p.Arg94Thr) | |
| 19 | g.6718399C>T | CA403645351 | C3 | n.342G>A c.158G>A (p.Arg53Lys) c.281G>A (p.Arg94Lys) | dbSNP gnomAD v4 |
| 19 | g.6718400T>A | CA403645352 | C3 | n.341A>T c.157A>T (p.Arg53Trp) c.280A>T (p.Arg94Trp) | |
| 19 | g.6718400T>C | CA403645353 | C3 | n.341A>G c.157A>G (p.Arg53Gly) c.280A>G (p.Arg94Gly) | gnomAD v4 |
| 19 | g.6718400T>G | CA505125221 | C3 | n.341A>C c.157A>C (p.Arg53=) c.280A>C (p.Arg94=) | |
| 19 | g.6718401G>A | CA505125222 | C3 | n.340C>T c.156C>T (p.Asn52=) c.279C>T (p.Asn93=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.6718401G>C | CA403645354 | C3 | n.340C>G c.156C>G (p.Asn52Lys) c.279C>G (p.Asn93Lys) | |
| 19 | g.6718401G= | CA2320570653 | C3 | n.340C= c.156C= (p.Asn52=) c.279C= (p.Asn93=) | |
| 19 | g.6718401G>T | CA403645355 | C3 | n.340C>A c.156C>A (p.Asn52Lys) c.279C>A (p.Asn93Lys) | |
| 19 | g.6718402T>A | CA403645356 | C3 | n.339A>T c.155A>T (p.Asn52Ile) c.278A>T (p.Asn93Ile) | |
| 19 | g.6718402T>C | CA403645357 | C3 | n.339A>G c.155A>G (p.Asn52Ser) c.278A>G (p.Asn93Ser) | |
| 19 | g.6718402T>G | CA403645358 | C3 | n.339A>C c.155A>C (p.Asn52Thr) c.278A>C (p.Asn93Thr) | |
| 19 | g.6718403T>A | CA403645360 | C3 | n.338A>T c.154A>T (p.Asn52Tyr) c.277A>T (p.Asn93Tyr) | |
| 19 | g.6718403T>C | CA403645361 | C3 | n.338A>G c.154A>G (p.Asn52Asp) c.277A>G (p.Asn93Asp) | gnomAD v4 |
| 19 | g.6718403T>G | CA403645359 | C3 | n.338A>C c.154A>C (p.Asn52His) c.277A>C (p.Asn93His) | |
| 19 | g.6718404G>A | CA505125223 | C3 | n.337C>T c.153C>T (p.Ala51=) c.276C>T (p.Ala92=) | |
| 19 | g.6718404G>C | CA505125225 | C3 | n.337C>G c.153C>G (p.Ala51=) c.276C>G (p.Ala92=) | |
| 19 | g.6718404G>T | CA505125224 | C3 | n.337C>A c.153C>A (p.Ala51=) c.276C>A (p.Ala92=) | |
| 19 | g.6718405G>A | CA403645362 | C3 | n.336C>T c.152C>T (p.Ala51Val) c.275C>T (p.Ala92Val) | |
| 19 | g.6718405G>C | CA403645363 | C3 | n.336C>G c.152C>G (p.Ala51Gly) c.275C>G (p.Ala92Gly) | |
| 19 | g.6718405G= | CA2320570654 | C3 | n.336C= c.152C= (p.Ala51=) c.275C= (p.Ala92=) | |
| 19 | g.6718405G>T | CA403645364 | C3 | n.336C>A c.152C>A (p.Ala51Asp) c.275C>A (p.Ala92Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.6718406C>A | CA403645365 | C3 | n.335G>T c.151G>T (p.Ala51Ser) c.274G>T (p.Ala92Ser) | gnomAD v4 |
| 19 | g.6718406C>G | CA403645366 | C3 | n.335G>C c.151G>C (p.Ala51Pro) c.274G>C (p.Ala92Pro) | |
| 19 | g.6718406C>T | CA403645367 | C3 | n.335G>A c.151G>A (p.Ala51Thr) c.274G>A (p.Ala92Thr) | gnomAD v4 |
| 19 | g.6718407T>A | CA505125226 | C3 | n.334A>T c.150A>T (p.Pro50=) c.273A>T (p.Pro91=) | |
| 19 | g.6718407T>C | CA505125227 | C3 | n.334A>G c.150A>G (p.Pro50=) c.273A>G (p.Pro91=) | |
| 19 | g.6718407T>G | CA505125228 | C3 | n.334A>C c.150A>C (p.Pro50=) c.273A>C (p.Pro91=) | |
| 19 | g.6718408G>A | CA403645368 | C3 | n.333C>T c.149C>T (p.Pro50Leu) c.272C>T (p.Pro91Leu) | |
| 19 | g.6718408G>C | CA403645369 | C3 | n.333C>G c.149C>G (p.Pro50Arg) c.272C>G (p.Pro91Arg) | |
| 19 | g.6718408G>T | CA403645370 | C3 | n.333C>A c.149C>A (p.Pro50Gln) c.272C>A (p.Pro91Gln) | |
| 19 | g.6718409G>A | CA403645371 | C3 | n.332C>T c.148C>T (p.Pro50Ser) c.271C>T (p.Pro91Ser) | |
| 19 | g.6718409G>C | CA403645372 | C3 | n.332C>G c.148C>G (p.Pro50Ala) c.271C>G (p.Pro91Ala) | |
| 19 | g.6718409G>T | CA403645373 | C3 | n.332C>A c.148C>A (p.Pro50Thr) c.271C>A (p.Pro91Thr) | |
| 19 | g.6718410G>A | CA505125229 | C3 | n.331C>T c.147C>T (p.Ile49=) c.270C>T (p.Ile90=) | |
| 19 | g.6718410G>C | CA403645374 | C3 | n.331C>G c.147C>G (p.Ile49Met) c.270C>G (p.Ile90Met) | |
| 19 | g.6718410G>T | CA505125230 | C3 | n.331C>A c.147C>A (p.Ile49=) c.270C>A (p.Ile90=) | |
| 19 | g.6718411A>C | CA403645375 | C3 | n.330T>G c.146T>G (p.Ile49Ser) c.269T>G (p.Ile90Ser) | |
| 19 | g.6718411A>G | CA403645377 | C3 | n.330T>C c.146T>C (p.Ile49Thr) c.269T>C (p.Ile90Thr) | |
| 19 | g.6718411A>T | CA403645376 | C3 | n.330T>A c.146T>A (p.Ile49Asn) c.269T>A (p.Ile90Asn) | |
| 19 | g.6718412T>A | CA403645378 | C3 | n.329A>T c.145A>T (p.Ile49Phe) c.268A>T (p.Ile90Phe) | |
| 19 | g.6718412T>C | CA403645379 | C3 | n.329A>G c.145A>G (p.Ile49Val) c.268A>G (p.Ile90Val) | |
| 19 | g.6718412T>G | CA403645380 | C3 | n.329A>C c.145A>C (p.Ile49Leu) c.268A>C (p.Ile90Leu) | |
| 19 | g.6718413C>A | CA403645381 | C3 | n.329-1G>T c.145-1G>T (n.145-1G>T) c.268-1G>T (n.268-1G>T) | |
| 19 | g.6718413C>G | CA403645382 | C3 | n.329-1G>C c.145-1G>C (n.145-1G>C) c.268-1G>C (n.268-1G>C) | |
| 19 | g.6718413C>T | CA403645383 | C3 | n.329-1G>A c.145-1G>A (n.145-1G>A) c.268-1G>A (n.268-1G>A) | |
| 19 | g.6718414T>A | CA403645384 | C3 | n.329-2A>T c.145-2A>T (n.145-2A>T) c.268-2A>T (n.268-2A>T) | |
| 19 | g.6718414T>C | CA403645385 | C3 | n.329-2A>G c.145-2A>G (n.145-2A>G) c.268-2A>G (n.268-2A>G) | ClinVar dbSNP |
| 19 | g.6718414T>G | CA304803701 | C3 | n.329-2A>C c.145-2A>C (n.145-2A>C) c.268-2A>C (n.268-2A>C) | dbSNP |
| 19 | g.6718414T= | CA2320570655 | C3 | n.329-2A= c.145-2A= (n.145-2A=) c.268-2A= (n.268-2A=) | |
| 19 | g.6718416G>A | CA9129852 | C3 | n.329-4C>T c.145-4C>T (n.145-4C>T) c.268-4C>T (n.268-4C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.6718416G= | CA2320570656 | C3 | n.329-4C= c.145-4C= (n.145-4C=) c.268-4C= (n.268-4C=) | |
| 19 | g.6718416_6718417delinsTT | CA2580097051 | C3 | n.329-5_329-4delinsAA c.145-5_145-4delinsAA (n.145-5_145-4delinsAA) c.268-5_268-4delinsAA (n.268-5_268-4delinsAA) | ClinVar |
| 19 | g.6718417G>A | CA9129853 | C3 | n.329-5C>T c.145-5C>T (n.145-5C>T) c.268-5C>T (n.268-5C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.6718417G= | CA2320570657 | C3 | n.329-5C= c.145-5C= (n.145-5C=) c.268-5C= (n.268-5C=) | |
| 19 | g.6718417G>T | CA2320570658 | C3 | n.329-5C>A c.145-5C>A (n.145-5C>A) c.268-5C>A (n.268-5C>A) | dbSNP gnomAD v4 |
| 19 | g.6718418C>A | CA2587880779 | C3 | n.329-6G>T c.145-6G>T (n.145-6G>T) c.268-6G>T (n.268-6G>T) | gnomAD v4 |
| 19 | g.6718418C= | CA2320570659 | C3 | n.329-6G= c.145-6G= (n.145-6G=) c.268-6G= (n.268-6G=) | |
| 19 | g.6718418C>T | CA9129854 | C3 | n.329-6G>A c.145-6G>A (n.145-6G>A) c.268-6G>A (n.268-6G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.6718419G>A | CA9129855 | C3 | n.329-7C>T c.145-7C>T (n.145-7C>T) c.268-7C>T (n.268-7C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.6718419G= | CA2320570660 | C3 | n.329-7C= c.145-7C= (n.145-7C=) c.268-7C= (n.268-7C=) | |
| 19 | g.6718419G>T | CA645620608 | C3 | n.329-7C>A c.145-7C>A (n.145-7C>A) c.268-7C>A (n.268-7C>A) | COSMIC |
| 19 | g.6718420T>C | CA2320570662 | C3 | n.329-8A>G c.145-8A>G (n.145-8A>G) c.268-8A>G (n.268-8A>G) | dbSNP gnomAD v4 |
| 19 | g.6718420T= | CA2320570661 | C3 | n.329-8A= c.145-8A= (n.145-8A=) c.268-8A= (n.268-8A=) | |
| 19 | g.6718421G>A | CA2320570664 | C3 | n.329-9C>T c.145-9C>T (n.145-9C>T) c.268-9C>T (n.268-9C>T) | dbSNP gnomAD v4 |
| 19 | g.6718421G= | CA2320570663 | C3 | n.329-9C= c.145-9C= (n.145-9C=) c.268-9C= (n.268-9C=) | |
| 19 | g.6718421G>T | CA631663720 | C3 | n.329-9C>A c.145-9C>A (n.145-9C>A) c.268-9C>A (n.268-9C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.6718422G>A | CA2576592493 | C3 | n.329-10C>T c.145-10C>T (n.145-10C>T) c.268-10C>T (n.268-10C>T) | |
| 19 | g.6718423G>T | CA2580097053 | C3 | n.329-11C>A c.145-11C>A (n.145-11C>A) c.268-11C>A (n.268-11C>A) | ClinVar |
| 19 | g.6718424C>A | CA304803726 | C3 | n.329-12G>T c.145-12G>T (n.145-12G>T) c.268-12G>T (n.268-12G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.6718424C= | CA2320570665 | C3 | n.329-12G= c.145-12G= (n.145-12G=) c.268-12G= (n.268-12G=) | |
| 19 | g.6718426G>A | CA2587880780 | C3 | n.329-14C>T c.145-14C>T (n.145-14C>T) c.268-14C>T (n.268-14C>T) | gnomAD v4 |
| 19 | g.6718427G>A | CA631663723 | C3 | n.329-15C>T c.145-15C>T (n.145-15C>T) c.268-15C>T (n.268-15C>T) | dbSNP gnomAD v2 |
| 19 | g.6718427G= | CA2320570666 | C3 | n.329-15C= c.145-15C= (n.145-15C=) c.268-15C= (n.268-15C=) | |
| 19 | g.6718428G>A | CA304803732 | C3 | n.329-16C>T c.145-16C>T (n.145-16C>T) c.268-16C>T (n.268-16C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.6718428G= | CA2320570667 | C3 | n.329-16C= c.145-16C= (n.145-16C=) c.268-16C= (n.268-16C=) | |
| 19 | g.6718429C= | CA2320570668 | C3 | n.329-17G= c.145-17G= (n.145-17G=) c.268-17G= (n.268-17G=) | |
| 19 | g.6718429_6718430insT | CA631663726 | C3 | n.329-18_329-17insA c.145-18_145-17insA (n.145-18_145-17insA) c.268-18_268-17insA (n.268-18_268-17insA) | dbSNP gnomAD v2 |
| 19 | g.6718430A= | CA2320570669 | C3 | n.329-18T= c.145-18T= (n.145-18T=) c.268-18T= (n.268-18T=) | |
| 19 | g.6718430A>T | CA2587880781 | C3 | n.329-18T>A c.145-18T>A (n.145-18T>A) c.268-18T>A (n.268-18T>A) | gnomAD v4 |
| 19 | g.6718430_6718431insGGGTCTCACGAGGCCTCT | CA631663729 | C3 | n.329-19_329-18insAGAGGCCTCGTGAGACCC c.145-19_145-18insAGAGGCCTCGTGAGACCC (n.145-19_145-18insAGAGGCCTCGTGAGACCC) c.268-19_268-18insAGAGGCCTCGTGAGACCC (n.268-19_268-18insAGAGGCCTCGTGAGACCC) | dbSNP gnomAD v2 |
| 19 | g.6718431T>C | CA2587880782 | C3 | n.329-19A>G c.145-19A>G (n.145-19A>G) c.268-19A>G (n.268-19A>G) | gnomAD v4 |
| 19 | g.6718432T>C | CA631663731 | C3 | n.329-20A>G c.145-20A>G (n.145-20A>G) c.268-20A>G (n.268-20A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.6718432T= | CA2320570670 | C3 | n.329-20A= c.145-20A= (n.145-20A=) c.268-20A= (n.268-20A=) | |
| 19 | g.6718433G>A | CA993058745 | C3 | n.329-21C>T c.145-21C>T (n.145-21C>T) c.268-21C>T (n.268-21C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.6718433G= | CA2320570671 | C3 | n.329-21C= c.145-21C= (n.145-21C=) c.268-21C= (n.268-21C=) | |
| 19 | g.6718434T>A | CA9129856 | C3 | n.329-22A>T c.145-22A>T (n.145-22A>T) c.268-22A>T (n.268-22A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.6718434T>C | CA2587880783 | C3 | n.329-22A>G c.145-22A>G (n.145-22A>G) c.268-22A>G (n.268-22A>G) | gnomAD v4 |
| 19 | g.6718434T= | CA2320570672 | C3 | n.329-22A= c.145-22A= (n.145-22A=) c.268-22A= (n.268-22A=) | |
| 19 | g.6718435C= | CA2320570673 | C3 | n.329-23G= c.145-23G= (n.145-23G=) c.268-23G= (n.268-23G=) | |
| 19 | g.6718436A= | CA2320570674 | C3 | n.329-24T= c.145-24T= (n.145-24T=) c.268-24T= (n.268-24T=) | |
| 19 | g.6718436A>C | CA2320570675 | C3 | n.329-24T>G c.145-24T>G (n.145-24T>G) c.268-24T>G (n.268-24T>G) | dbSNP |
| 19 | g.6718436A>G | CA2320570676 | C3 | n.329-24T>C c.145-24T>C (n.145-24T>C) c.268-24T>C (n.268-24T>C) | dbSNP gnomAD v4 |
| 19 | g.6718436dup | CA884134940 | C3 | n.329-24dup c.145-24dup (n.145-24dup) c.268-24dup (n.268-24dup) | dbSNP gnomAD v4 |
| 19 | g.6718436_6718437del | CA2587880784 | C3 | n.329-25_329-24del c.145-25_145-24del (n.145-25_145-24del) c.268-25_268-24del (n.268-25_268-24del) | gnomAD v4 |