Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.7663480C>A | CA416026394 | CAMTA1 | c.933C>A (p.Gly311=) c.*784C>A (n.*784C>A) c.843C>A (p.Gly281=) c.861C>A (p.Gly287=) c.*702C>A (n.*702C>A) c.921C>A (p.Gly307=) | gnomAD v4 |
1 | g.7663480C= | CA1143650342 | CAMTA1 | c.933C= (p.Gly311=) c.*784C= (n.*784C=) c.843C= (p.Gly281=) c.861C= (p.Gly287=) c.*702C= (n.*702C=) c.921C= (p.Gly307=) | |
1 | g.7663480C>G | CA416026395 | CAMTA1 | c.933C>G (p.Gly311=) c.*784C>G (n.*784C>G) c.843C>G (p.Gly281=) c.861C>G (p.Gly287=) c.*702C>G (n.*702C>G) c.921C>G (p.Gly307=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7663480C>T | CA17243920 | CAMTA1 | c.933C>T (p.Gly311=) c.*784C>T (n.*784C>T) c.843C>T (p.Gly281=) c.861C>T (p.Gly287=) c.*702C>T (n.*702C>T) c.921C>T (p.Gly307=) | dbSNP |
1 | g.7663481_7663486dup | CA2643031705 | CAMTA1 | c.934_939dup (p.His313_Glu314insLysHis) c.*785_*790dup (n.*785_*790dup) c.844_849dup (p.His283_Glu284insLysHis) c.862_867dup (p.His289_Glu290insLysHis) c.*703_*708dup (n.*703_*708dup) c.922_927dup (p.His309_Glu310insLysHis) | gnomAD v4 |
1 | g.7663481A>C | CA338122105 | CAMTA1 | c.934A>C (p.Lys312Gln) c.*785A>C (n.*785A>C) c.844A>C (p.Lys282Gln) c.862A>C (p.Lys288Gln) c.*703A>C (n.*703A>C) c.922A>C (p.Lys308Gln) | |
1 | g.7663481A>G | CA338122119 | CAMTA1 | c.934A>G (p.Lys312Glu) c.*785A>G (n.*785A>G) c.844A>G (p.Lys282Glu) c.862A>G (p.Lys288Glu) c.*703A>G (n.*703A>G) c.922A>G (p.Lys308Glu) | gnomAD v4 |
1 | g.7663481A>T | CA338122122 | CAMTA1 | c.934A>T (p.Lys312Ter) c.*785A>T (n.*785A>T) c.844A>T (p.Lys282Ter) c.862A>T (p.Lys288Ter) c.*703A>T (n.*703A>T) c.922A>T (p.Lys308Ter) | |
1 | g.7663482A= | CA1152023638 | CAMTA1 | c.935A= (p.Lys312=) c.*786A= (n.*786A=) c.845A= (p.Lys282=) c.863A= (p.Lys288=) c.*704A= (n.*704A=) c.923A= (p.Lys308=) | |
1 | g.7663482A>C | CA566332 | CAMTA1 | c.935A>C (p.Lys312Thr) c.*786A>C (n.*786A>C) c.845A>C (p.Lys282Thr) c.863A>C (p.Lys288Thr) c.*704A>C (n.*704A>C) c.923A>C (p.Lys308Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663482A>G | CA566331 | CAMTA1 | c.935A>G (p.Lys312Arg) c.*786A>G (n.*786A>G) c.845A>G (p.Lys282Arg) c.863A>G (p.Lys288Arg) c.*704A>G (n.*704A>G) c.923A>G (p.Lys308Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663482A>T | CA338122143 | CAMTA1 | c.935A>T (p.Lys312Met) c.*786A>T (n.*786A>T) c.845A>T (p.Lys282Met) c.863A>T (p.Lys288Met) c.*704A>T (n.*704A>T) c.923A>T (p.Lys308Met) | |
1 | g.7663483G>A | CA416026396 | CAMTA1 | c.936G>A (p.Lys312=) c.*787G>A (n.*787G>A) c.846G>A (p.Lys282=) c.864G>A (p.Lys288=) c.*705G>A (n.*705G>A) c.924G>A (p.Lys308=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7663483G>C | CA338122148 | CAMTA1 | c.936G>C (p.Lys312Asn) c.*787G>C (n.*787G>C) c.846G>C (p.Lys282Asn) c.864G>C (p.Lys288Asn) c.*705G>C (n.*705G>C) c.924G>C (p.Lys308Asn) | |
1 | g.7663483G= | CA1152023639 | CAMTA1 | c.936G= (p.Lys312=) c.*787G= (n.*787G=) c.846G= (p.Lys282=) c.864G= (p.Lys288=) c.*705G= (n.*705G=) c.924G= (p.Lys308=) | |
1 | g.7663483G>T | CA338122153 | CAMTA1 | c.936G>T (p.Lys312Asn) c.*787G>T (n.*787G>T) c.846G>T (p.Lys282Asn) c.864G>T (p.Lys288Asn) c.*705G>T (n.*705G>T) c.924G>T (p.Lys308Asn) | gnomAD v4 |
1 | g.7663484C>A | CA338122156 | CAMTA1 | c.937C>A (p.His313Asn) c.*788C>A (n.*788C>A) c.847C>A (p.His283Asn) c.865C>A (p.His289Asn) c.*706C>A (n.*706C>A) c.925C>A (p.His309Asn) | gnomAD v4 |
1 | g.7663484C>G | CA338122159 | CAMTA1 | c.937C>G (p.His313Asp) c.*788C>G (n.*788C>G) c.847C>G (p.His283Asp) c.865C>G (p.His289Asp) c.*706C>G (n.*706C>G) c.925C>G (p.His309Asp) | |
1 | g.7663484C>T | CA338122170 | CAMTA1 | c.937C>T (p.His313Tyr) c.*788C>T (n.*788C>T) c.847C>T (p.His283Tyr) c.865C>T (p.His289Tyr) c.*706C>T (n.*706C>T) c.925C>T (p.His309Tyr) | |
1 | g.7663485A= | CA1152023640 | CAMTA1 | c.938A= (p.His313=) c.*789A= (n.*789A=) c.848A= (p.His283=) c.866A= (p.His289=) c.*707A= (n.*707A=) c.926A= (p.His309=) | |
1 | g.7663485A>C | CA338122174 | CAMTA1 | c.938A>C (p.His313Pro) c.*789A>C (n.*789A>C) c.848A>C (p.His283Pro) c.866A>C (p.His289Pro) c.*707A>C (n.*707A>C) c.926A>C (p.His309Pro) | |
1 | g.7663485A>G | CA566333 | CAMTA1 | c.938A>G (p.His313Arg) c.*789A>G (n.*789A>G) c.848A>G (p.His283Arg) c.866A>G (p.His289Arg) c.*707A>G (n.*707A>G) c.926A>G (p.His309Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.7663485A>T | CA338122180 | CAMTA1 | c.938A>T (p.His313Leu) c.*789A>T (n.*789A>T) c.848A>T (p.His283Leu) c.866A>T (p.His289Leu) c.*707A>T (n.*707A>T) c.926A>T (p.His309Leu) | |
1 | g.7663486C>A | CA338122185 | CAMTA1 | c.939C>A (p.His313Gln) c.*790C>A (n.*790C>A) c.849C>A (p.His283Gln) c.867C>A (p.His289Gln) c.*708C>A (n.*708C>A) c.927C>A (p.His309Gln) | gnomAD v4 |
1 | g.7663486C= | CA1143922104 | CAMTA1 | c.939C= (p.His313=) c.*790C= (n.*790C=) c.849C= (p.His283=) c.867C= (p.His289=) c.*708C= (n.*708C=) c.927C= (p.His309=) | |
1 | g.7663486C>G | CA338122191 | CAMTA1 | c.939C>G (p.His313Gln) c.*790C>G (n.*790C>G) c.849C>G (p.His283Gln) c.867C>G (p.His289Gln) c.*708C>G (n.*708C>G) c.927C>G (p.His309Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.7663486C>T | CA566334 | CAMTA1 | c.939C>T (p.His313=) c.*790C>T (n.*790C>T) c.849C>T (p.His283=) c.867C>T (p.His289=) c.*708C>T (n.*708C>T) c.927C>T (p.His309=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.7663487G>A | CA566335 | CAMTA1 | c.940G>A (p.Glu314Lys) c.*791G>A (n.*791G>A) c.850G>A (p.Glu284Lys) c.868G>A (p.Glu290Lys) c.*709G>A (n.*709G>A) c.928G>A (p.Glu310Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.7663487G>C | CA338122194 | CAMTA1 | c.940G>C (p.Glu314Gln) c.*791G>C (n.*791G>C) c.850G>C (p.Glu284Gln) c.868G>C (p.Glu290Gln) c.*709G>C (n.*709G>C) c.928G>C (p.Glu310Gln) | |
1 | g.7663487G= | CA1152023641 | CAMTA1 | c.940G= (p.Glu314=) c.*791G= (n.*791G=) c.850G= (p.Glu284=) c.868G= (p.Glu290=) c.*709G= (n.*709G=) c.928G= (p.Glu310=) | |
1 | g.7663487G>T | CA338122195 | CAMTA1 | c.940G>T (p.Glu314Ter) c.*791G>T (n.*791G>T) c.850G>T (p.Glu284Ter) c.868G>T (p.Glu290Ter) c.*709G>T (n.*709G>T) c.928G>T (p.Glu310Ter) | COSMIC |
1 | g.7663488A>C | CA338122198 | CAMTA1 | c.941A>C (p.Glu314Ala) c.*792A>C (n.*792A>C) c.851A>C (p.Glu284Ala) c.869A>C (p.Glu290Ala) c.*710A>C (n.*710A>C) c.929A>C (p.Glu310Ala) | |
1 | g.7663488A>G | CA338122199 | CAMTA1 | c.941A>G (p.Glu314Gly) c.*792A>G (n.*792A>G) c.851A>G (p.Glu284Gly) c.869A>G (p.Glu290Gly) c.*710A>G (n.*710A>G) c.929A>G (p.Glu310Gly) | |
1 | g.7663488A>T | CA338122200 | CAMTA1 | c.941A>T (p.Glu314Val) c.*792A>T (n.*792A>T) c.851A>T (p.Glu284Val) c.869A>T (p.Glu290Val) c.*710A>T (n.*710A>T) c.929A>T (p.Glu310Val) | |
1 | g.7663489G>A | CA416026397 | CAMTA1 | c.942G>A (p.Glu314=) c.*793G>A (n.*793G>A) c.852G>A (p.Glu284=) c.870G>A (p.Glu290=) c.*711G>A (n.*711G>A) c.930G>A (p.Glu310=) | |
1 | g.7663489G>C | CA338122201 | CAMTA1 | c.942G>C (p.Glu314Asp) c.*793G>C (n.*793G>C) c.852G>C (p.Glu284Asp) c.870G>C (p.Glu290Asp) c.*711G>C (n.*711G>C) c.930G>C (p.Glu310Asp) | |
1 | g.7663489G>T | CA338122204 | CAMTA1 | c.942G>T (p.Glu314Asp) c.*793G>T (n.*793G>T) c.852G>T (p.Glu284Asp) c.870G>T (p.Glu290Asp) c.*711G>T (n.*711G>T) c.930G>T (p.Glu310Asp) | |
1 | g.7663490C>A | CA338122213 | CAMTA1 | c.943C>A (p.His315Asn) c.*794C>A (n.*794C>A) c.853C>A (p.His285Asn) c.871C>A (p.His291Asn) c.*712C>A (n.*712C>A) c.931C>A (p.His311Asn) | gnomAD v4 |
1 | g.7663490C>G | CA338122217 | CAMTA1 | c.943C>G (p.His315Asp) c.*794C>G (n.*794C>G) c.853C>G (p.His285Asp) c.871C>G (p.His291Asp) c.*712C>G (n.*712C>G) c.931C>G (p.His311Asp) | |
1 | g.7663490C>T | CA338122216 | CAMTA1 | c.943C>T (p.His315Tyr) c.*794C>T (n.*794C>T) c.853C>T (p.His285Tyr) c.871C>T (p.His291Tyr) c.*712C>T (n.*712C>T) c.931C>T (p.His311Tyr) | |
1 | g.7663491A= | CA1152023642 | CAMTA1 | c.944A= (p.His315=) c.*795A= (n.*795A=) c.854A= (p.His285=) c.872A= (p.His291=) c.*713A= (n.*713A=) c.932A= (p.His311=) | |
1 | g.7663491A>C | CA566336 | CAMTA1 | c.944A>C (p.His315Pro) c.*795A>C (n.*795A>C) c.854A>C (p.His285Pro) c.872A>C (p.His291Pro) c.*713A>C (n.*713A>C) c.932A>C (p.His311Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663491A>G | CA338122222 | CAMTA1 | c.944A>G (p.His315Arg) c.*795A>G (n.*795A>G) c.854A>G (p.His285Arg) c.872A>G (p.His291Arg) c.*713A>G (n.*713A>G) c.932A>G (p.His311Arg) | |
1 | g.7663491A>T | CA338122223 | CAMTA1 | c.944A>T (p.His315Leu) c.*795A>T (n.*795A>T) c.854A>T (p.His285Leu) c.872A>T (p.His291Leu) c.*713A>T (n.*713A>T) c.932A>T (p.His311Leu) | |
1 | g.7663492C>A | CA338122224 | CAMTA1 | c.945C>A (p.His315Gln) c.*796C>A (n.*796C>A) c.855C>A (p.His285Gln) c.873C>A (p.His291Gln) c.*714C>A (n.*714C>A) c.933C>A (p.His311Gln) | gnomAD v4 |
1 | g.7663492C= | CA1152023643 | CAMTA1 | c.945C= (p.His315=) c.*796C= (n.*796C=) c.855C= (p.His285=) c.873C= (p.His291=) c.*714C= (n.*714C=) c.933C= (p.His311=) | |
1 | g.7663492C>G | CA338122226 | CAMTA1 | c.945C>G (p.His315Gln) c.*796C>G (n.*796C>G) c.855C>G (p.His285Gln) c.873C>G (p.His291Gln) c.*714C>G (n.*714C>G) c.933C>G (p.His311Gln) | |
1 | g.7663492C>T | CA416026398 | CAMTA1 | c.945C>T (p.His315=) c.*796C>T (n.*796C>T) c.855C>T (p.His285=) c.873C>T (p.His291=) c.*714C>T (n.*714C>T) c.933C>T (p.His311=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.7663493A= | CA1152023644 | CAMTA1 | c.946A= (p.Ser316=) c.*797A= (n.*797A=) c.856A= (p.Ser286=) c.874A= (p.Ser292=) c.*715A= (n.*715A=) c.934A= (p.Ser312=) | |
1 | g.7663493A>C | CA338122228 | CAMTA1 | c.946A>C (p.Ser316Arg) c.*797A>C (n.*797A>C) c.856A>C (p.Ser286Arg) c.874A>C (p.Ser292Arg) c.*715A>C (n.*715A>C) c.934A>C (p.Ser312Arg) | |
1 | g.7663493A>G | CA566337 | CAMTA1 | c.946A>G (p.Ser316Gly) c.*797A>G (n.*797A>G) c.856A>G (p.Ser286Gly) c.874A>G (p.Ser292Gly) c.*715A>G (n.*715A>G) c.934A>G (p.Ser312Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.7663493A>T | CA338122230 | CAMTA1 | c.946A>T (p.Ser316Cys) c.*797A>T (n.*797A>T) c.856A>T (p.Ser286Cys) c.874A>T (p.Ser292Cys) c.*715A>T (n.*715A>T) c.934A>T (p.Ser312Cys) | |
1 | g.7663494G>A | CA338122232 | CAMTA1 | c.947G>A (p.Ser316Asn) c.*798G>A (n.*798G>A) c.857G>A (p.Ser286Asn) c.875G>A (p.Ser292Asn) c.*716G>A (n.*716G>A) c.935G>A (p.Ser312Asn) | COSMIC |
1 | g.7663494G>C | CA566338 | CAMTA1 | c.947G>C (p.Ser316Thr) c.*798G>C (n.*798G>C) c.857G>C (p.Ser286Thr) c.875G>C (p.Ser292Thr) c.*716G>C (n.*716G>C) c.935G>C (p.Ser312Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663494G= | CA1152023645 | CAMTA1 | c.947G= (p.Ser316=) c.*798G= (n.*798G=) c.857G= (p.Ser286=) c.875G= (p.Ser292=) c.*716G= (n.*716G=) c.935G= (p.Ser312=) | |
1 | g.7663494G>T | CA338122234 | CAMTA1 | c.947G>T (p.Ser316Ile) c.*798G>T (n.*798G>T) c.857G>T (p.Ser286Ile) c.875G>T (p.Ser292Ile) c.*716G>T (n.*716G>T) c.935G>T (p.Ser312Ile) | |
1 | g.7663495C>A | CA338122238 | CAMTA1 | c.948C>A (p.Ser316Arg) c.*799C>A (n.*799C>A) c.858C>A (p.Ser286Arg) c.876C>A (p.Ser292Arg) c.*717C>A (n.*717C>A) c.936C>A (p.Ser312Arg) | |
1 | g.7663495C>G | CA338122241 | CAMTA1 | c.948C>G (p.Ser316Arg) c.*799C>G (n.*799C>G) c.858C>G (p.Ser286Arg) c.876C>G (p.Ser292Arg) c.*717C>G (n.*717C>G) c.936C>G (p.Ser312Arg) | |
1 | g.7663495C>T | CA416026399 | CAMTA1 | c.948C>T (p.Ser316=) c.*799C>T (n.*799C>T) c.858C>T (p.Ser286=) c.876C>T (p.Ser292=) c.*717C>T (n.*717C>T) c.936C>T (p.Ser312=) | |
1 | g.7663496C>A | CA338122245 | CAMTA1 | c.949C>A (p.His317Asn) c.*800C>A (n.*800C>A) c.859C>A (p.His287Asn) c.877C>A (p.His293Asn) c.*718C>A (n.*718C>A) c.937C>A (p.His313Asn) | |
1 | g.7663496C>G | CA338122248 | CAMTA1 | c.949C>G (p.His317Asp) c.*800C>G (n.*800C>G) c.859C>G (p.His287Asp) c.877C>G (p.His293Asp) c.*718C>G (n.*718C>G) c.937C>G (p.His313Asp) | |
1 | g.7663496C>T | CA338122250 | CAMTA1 | c.949C>T (p.His317Tyr) c.*800C>T (n.*800C>T) c.859C>T (p.His287Tyr) c.877C>T (p.His293Tyr) c.*718C>T (n.*718C>T) c.937C>T (p.His313Tyr) | |
1 | g.7663497A= | CA1152023646 | CAMTA1 | c.950A= (p.His317=) c.*801A= (n.*801A=) c.860A= (p.His287=) c.878A= (p.His293=) c.*719A= (n.*719A=) c.938A= (p.His313=) | |
1 | g.7663497A>C | CA338122253 | CAMTA1 | c.950A>C (p.His317Pro) c.*801A>C (n.*801A>C) c.860A>C (p.His287Pro) c.878A>C (p.His293Pro) c.*719A>C (n.*719A>C) c.938A>C (p.His313Pro) | |
1 | g.7663497A>G | CA338122256 | CAMTA1 | c.950A>G (p.His317Arg) c.*801A>G (n.*801A>G) c.860A>G (p.His287Arg) c.878A>G (p.His293Arg) c.*719A>G (n.*719A>G) c.938A>G (p.His313Arg) | dbSNP gnomAD v4 |
1 | g.7663497A>T | CA338122258 | CAMTA1 | c.950A>T (p.His317Leu) c.*801A>T (n.*801A>T) c.860A>T (p.His287Leu) c.878A>T (p.His293Leu) c.*719A>T (n.*719A>T) c.938A>T (p.His313Leu) | |
1 | g.7663498C>A | CA338122262 | CAMTA1 | c.951C>A (p.His317Gln) c.*802C>A (n.*802C>A) c.861C>A (p.His287Gln) c.879C>A (p.His293Gln) c.*720C>A (n.*720C>A) c.939C>A (p.His313Gln) | |
1 | g.7663498C>G | CA338122263 | CAMTA1 | c.951C>G (p.His317Gln) c.*802C>G (n.*802C>G) c.861C>G (p.His287Gln) c.879C>G (p.His293Gln) c.*720C>G (n.*720C>G) c.939C>G (p.His313Gln) | |
1 | g.7663498C>T | CA416026400 | CAMTA1 | c.951C>T (p.His317=) c.*802C>T (n.*802C>T) c.861C>T (p.His287=) c.879C>T (p.His293=) c.*720C>T (n.*720C>T) c.939C>T (p.His313=) | gnomAD v4 |
1 | g.7663499A>C | CA338122267 | CAMTA1 | c.952A>C (p.Ser318Arg) c.*803A>C (n.*803A>C) c.862A>C (p.Ser288Arg) c.880A>C (p.Ser294Arg) c.*721A>C (n.*721A>C) c.940A>C (p.Ser314Arg) | |
1 | g.7663499A>G | CA338122270 | CAMTA1 | c.952A>G (p.Ser318Gly) c.*803A>G (n.*803A>G) c.862A>G (p.Ser288Gly) c.880A>G (p.Ser294Gly) c.*721A>G (n.*721A>G) c.940A>G (p.Ser314Gly) | |
1 | g.7663499A>T | CA338122269 | CAMTA1 | c.952A>T (p.Ser318Cys) c.*803A>T (n.*803A>T) c.862A>T (p.Ser288Cys) c.880A>T (p.Ser294Cys) c.*721A>T (n.*721A>T) c.940A>T (p.Ser314Cys) | |
1 | g.7663500G>A | CA338122273 | CAMTA1 | c.953G>A (p.Ser318Asn) c.*804G>A (n.*804G>A) c.863G>A (p.Ser288Asn) c.881G>A (p.Ser294Asn) c.*722G>A (n.*722G>A) c.941G>A (p.Ser314Asn) | gnomAD v4 |
1 | g.7663500G>C | CA338122276 | CAMTA1 | c.953G>C (p.Ser318Thr) c.*804G>C (n.*804G>C) c.863G>C (p.Ser288Thr) c.881G>C (p.Ser294Thr) c.*722G>C (n.*722G>C) c.941G>C (p.Ser314Thr) | |
1 | g.7663500G>T | CA338122286 | CAMTA1 | c.953G>T (p.Ser318Ile) c.*804G>T (n.*804G>T) c.863G>T (p.Ser288Ile) c.881G>T (p.Ser294Ile) c.*722G>T (n.*722G>T) c.941G>T (p.Ser314Ile) | |
1 | g.7663501C>A | CA338122288 | CAMTA1 | c.954C>A (p.Ser318Arg) c.*805C>A (n.*805C>A) c.864C>A (p.Ser288Arg) c.882C>A (p.Ser294Arg) c.*723C>A (n.*723C>A) c.942C>A (p.Ser314Arg) | gnomAD v4 |
1 | g.7663501C>G | CA338122290 | CAMTA1 | c.954C>G (p.Ser318Arg) c.*805C>G (n.*805C>G) c.864C>G (p.Ser288Arg) c.882C>G (p.Ser294Arg) c.*723C>G (n.*723C>G) c.942C>G (p.Ser314Arg) | |
1 | g.7663501C>T | CA416026401 | CAMTA1 | c.954C>T (p.Ser318=) c.*805C>T (n.*805C>T) c.864C>T (p.Ser288=) c.882C>T (p.Ser294=) c.*723C>T (n.*723C>T) c.942C>T (p.Ser314=) | |
1 | g.7663502A>C | CA338122292 | CAMTA1 | c.955A>C (p.Lys319Gln) c.*806A>C (n.*806A>C) c.865A>C (p.Lys289Gln) c.883A>C (p.Lys295Gln) c.*724A>C (n.*724A>C) c.943A>C (p.Lys315Gln) | |
1 | g.7663502A>G | CA338122295 | CAMTA1 | c.955A>G (p.Lys319Glu) c.*806A>G (n.*806A>G) c.865A>G (p.Lys289Glu) c.883A>G (p.Lys295Glu) c.*724A>G (n.*724A>G) c.943A>G (p.Lys315Glu) | |
1 | g.7663502A>T | CA338122297 | CAMTA1 | c.955A>T (p.Lys319Ter) c.*806A>T (n.*806A>T) c.865A>T (p.Lys289Ter) c.883A>T (p.Lys295Ter) c.*724A>T (n.*724A>T) c.943A>T (p.Lys315Ter) | |
1 | g.7663503A>C | CA338122298 | CAMTA1 | c.956A>C (p.Lys319Thr) c.*807A>C (n.*807A>C) c.866A>C (p.Lys289Thr) c.884A>C (p.Lys295Thr) c.*725A>C (n.*725A>C) c.944A>C (p.Lys315Thr) | |
1 | g.7663503A>G | CA338122299 | CAMTA1 | c.956A>G (p.Lys319Arg) c.*807A>G (n.*807A>G) c.866A>G (p.Lys289Arg) c.884A>G (p.Lys295Arg) c.*725A>G (n.*725A>G) c.944A>G (p.Lys315Arg) | gnomAD v4 |
1 | g.7663503A>T | CA338122300 | CAMTA1 | c.956A>T (p.Lys319Met) c.*807A>T (n.*807A>T) c.866A>T (p.Lys289Met) c.884A>T (p.Lys295Met) c.*725A>T (n.*725A>T) c.944A>T (p.Lys315Met) | |
1 | g.7663504G>A | CA17243934 | CAMTA1 | c.957G>A (p.Lys319=) c.*808G>A (n.*808G>A) c.867G>A (p.Lys289=) c.885G>A (p.Lys295=) c.*726G>A (n.*726G>A) c.945G>A (p.Lys315=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7663504G>C | CA338122302 | CAMTA1 | c.957G>C (p.Lys319Asn) c.*808G>C (n.*808G>C) c.867G>C (p.Lys289Asn) c.885G>C (p.Lys295Asn) c.*726G>C (n.*726G>C) c.945G>C (p.Lys315Asn) | |
1 | g.7663504G= | CA1152023647 | CAMTA1 | c.957G= (p.Lys319=) c.*808G= (n.*808G=) c.867G= (p.Lys289=) c.885G= (p.Lys295=) c.*726G= (n.*726G=) c.945G= (p.Lys315=) | |
1 | g.7663504G>T | CA338122303 | CAMTA1 | c.957G>T (p.Lys319Asn) c.*808G>T (n.*808G>T) c.867G>T (p.Lys289Asn) c.885G>T (p.Lys295Asn) c.*726G>T (n.*726G>T) c.945G>T (p.Lys315Asn) | |
1 | g.7663506dup | CA2840116653 | CAMTA1 | c.959dup (p.Ser321LeufsTer4) c.*810dup (n.*810dup) c.869dup (p.Ser291LeufsTer4) c.887dup (p.Ser297LeufsTer4) c.*728dup (n.*728dup) c.947dup (p.Ser317LeufsTer4) | |
1 | g.7663505G>A | CA338122306 | CAMTA1 | c.958G>A (p.Gly320Ser) c.*809G>A (n.*809G>A) c.868G>A (p.Gly290Ser) c.886G>A (p.Gly296Ser) c.*727G>A (n.*727G>A) c.946G>A (p.Gly316Ser) | |
1 | g.7663505G>C | CA338122304 | CAMTA1 | c.958G>C (p.Gly320Arg) c.*809G>C (n.*809G>C) c.868G>C (p.Gly290Arg) c.886G>C (p.Gly296Arg) c.*727G>C (n.*727G>C) c.946G>C (p.Gly316Arg) | |
1 | g.7663505G>T | CA338122305 | CAMTA1 | c.958G>T (p.Gly320Cys) c.*809G>T (n.*809G>T) c.868G>T (p.Gly290Cys) c.886G>T (p.Gly296Cys) c.*727G>T (n.*727G>T) c.946G>T (p.Gly316Cys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.7663506G>A | CA338122308 | CAMTA1 | c.959G>A (p.Gly320Asp) c.*810G>A (n.*810G>A) c.869G>A (p.Gly290Asp) c.887G>A (p.Gly296Asp) c.*728G>A (n.*728G>A) c.947G>A (p.Gly316Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.7663506G>C | CA338122310 | CAMTA1 | c.959G>C (p.Gly320Ala) c.*810G>C (n.*810G>C) c.869G>C (p.Gly290Ala) c.887G>C (p.Gly296Ala) c.*728G>C (n.*728G>C) c.947G>C (p.Gly316Ala) | |
1 | g.7663506G= | CA1152023648 | CAMTA1 | c.959G= (p.Gly320=) c.*810G= (n.*810G=) c.869G= (p.Gly290=) c.887G= (p.Gly296=) c.*728G= (n.*728G=) c.947G= (p.Gly316=) | |
1 | g.7663506G>T | CA338122312 | CAMTA1 | c.959G>T (p.Gly320Val) c.*810G>T (n.*810G>T) c.869G>T (p.Gly290Val) c.887G>T (p.Gly296Val) c.*728G>T (n.*728G>T) c.947G>T (p.Gly316Val) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.7663507C>A | CA416026402 | CAMTA1 | c.960C>A (p.Gly320=) c.*811C>A (n.*811C>A) c.870C>A (p.Gly290=) c.888C>A (p.Gly296=) c.*729C>A (n.*729C>A) c.948C>A (p.Gly316=) | gnomAD v4 |
1 | g.7663507C>G | CA416026403 | CAMTA1 | c.960C>G (p.Gly320=) c.*811C>G (n.*811C>G) c.870C>G (p.Gly290=) c.888C>G (p.Gly296=) c.*729C>G (n.*729C>G) c.948C>G (p.Gly316=) | |
1 | g.7663507C>T | CA416026404 | CAMTA1 | c.960C>T (p.Gly320=) c.*811C>T (n.*811C>T) c.870C>T (p.Gly290=) c.888C>T (p.Gly296=) c.*729C>T (n.*729C>T) c.948C>T (p.Gly316=) | gnomAD v4 |
1 | g.7663508T>A | CA338122313 | CAMTA1 | c.961T>A (p.Ser321Thr) c.*812T>A (n.*812T>A) c.871T>A (p.Ser291Thr) c.889T>A (p.Ser297Thr) c.*730T>A (n.*730T>A) c.949T>A (p.Ser317Thr) | gnomAD v4 |
1 | g.7663508T>C | CA566339 | CAMTA1 | c.961T>C (p.Ser321Pro) c.*812T>C (n.*812T>C) c.871T>C (p.Ser291Pro) c.889T>C (p.Ser297Pro) c.*730T>C (n.*730T>C) c.949T>C (p.Ser317Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663508T>G | CA338122315 | CAMTA1 | c.961T>G (p.Ser321Ala) c.*812T>G (n.*812T>G) c.871T>G (p.Ser291Ala) c.889T>G (p.Ser297Ala) c.*730T>G (n.*730T>G) c.949T>G (p.Ser317Ala) | |
1 | g.7663508T= | CA1152023649 | CAMTA1 | c.961T= (p.Ser321=) c.*812T= (n.*812T=) c.871T= (p.Ser291=) c.889T= (p.Ser297=) c.*730T= (n.*730T=) c.949T= (p.Ser317=) | |
1 | g.7663509C>A | CA338122318 | CAMTA1 | c.962C>A (p.Ser321Tyr) c.*813C>A (n.*813C>A) c.872C>A (p.Ser291Tyr) c.890C>A (p.Ser297Tyr) c.*731C>A (n.*731C>A) c.950C>A (p.Ser317Tyr) | |
1 | g.7663509C>G | CA338122320 | CAMTA1 | c.962C>G (p.Ser321Cys) c.*813C>G (n.*813C>G) c.872C>G (p.Ser291Cys) c.890C>G (p.Ser297Cys) c.*731C>G (n.*731C>G) c.950C>G (p.Ser317Cys) | |
1 | g.7663509C>T | CA338122321 | CAMTA1 | c.962C>T (p.Ser321Phe) c.*813C>T (n.*813C>T) c.872C>T (p.Ser291Phe) c.890C>T (p.Ser297Phe) c.*731C>T (n.*731C>T) c.950C>T (p.Ser317Phe) | |
1 | g.7663510C>A | CA416026405 | CAMTA1 | c.963C>A (p.Ser321=) c.*814C>A (n.*814C>A) c.873C>A (p.Ser291=) c.891C>A (p.Ser297=) c.*732C>A (n.*732C>A) c.951C>A (p.Ser317=) | |
1 | g.7663510C= | CA1152023650 | CAMTA1 | c.963C= (p.Ser321=) c.*814C= (n.*814C=) c.873C= (p.Ser291=) c.891C= (p.Ser297=) c.*732C= (n.*732C=) c.951C= (p.Ser317=) | |
1 | g.7663510C>G | CA416026406 | CAMTA1 | c.963C>G (p.Ser321=) c.*814C>G (n.*814C>G) c.873C>G (p.Ser291=) c.891C>G (p.Ser297=) c.*732C>G (n.*732C>G) c.951C>G (p.Ser317=) | |
1 | g.7663510C>T | CA416026407 | CAMTA1 | c.963C>T (p.Ser321=) c.*814C>T (n.*814C>T) c.873C>T (p.Ser291=) c.891C>T (p.Ser297=) c.*732C>T (n.*732C>T) c.951C>T (p.Ser317=) | dbSNP |
1 | g.7663511A>C | CA338122322 | CAMTA1 | c.964A>C (p.Ser322Arg) c.*815A>C (n.*815A>C) c.874A>C (p.Ser292Arg) c.892A>C (p.Ser298Arg) c.*733A>C (n.*733A>C) c.952A>C (p.Ser318Arg) | |
1 | g.7663511A>G | CA338122324 | CAMTA1 | c.964A>G (p.Ser322Gly) c.*815A>G (n.*815A>G) c.874A>G (p.Ser292Gly) c.892A>G (p.Ser298Gly) c.*733A>G (n.*733A>G) c.952A>G (p.Ser318Gly) | |
1 | g.7663511A>T | CA338122325 | CAMTA1 | c.964A>T (p.Ser322Cys) c.*815A>T (n.*815A>T) c.874A>T (p.Ser292Cys) c.892A>T (p.Ser298Cys) c.*733A>T (n.*733A>T) c.952A>T (p.Ser318Cys) | |
1 | g.7663511_7663514delinsAGCC | CA1152023651 | CAMTA1 | c.964_967delinsAGCC (p.Ser322=) c.*815_*818delinsAGCC (n.*815_*818delinsAGCC) c.874_877delinsAGCC (p.Ser292=) c.892_895delinsAGCC (p.Ser298=) c.*733_*736delinsAGCC (n.*733_*736delinsAGCC) c.952_955delinsAGCC (p.Ser318=) | |
1 | g.7663512G>A | CA338122329 | CAMTA1 | c.965G>A (p.Ser322Asn) c.*816G>A (n.*816G>A) c.875G>A (p.Ser292Asn) c.893G>A (p.Ser298Asn) c.*734G>A (n.*734G>A) c.953G>A (p.Ser318Asn) | |
1 | g.7663512G>C | CA338122327 | CAMTA1 | c.965G>C (p.Ser322Thr) c.*816G>C (n.*816G>C) c.875G>C (p.Ser292Thr) c.893G>C (p.Ser298Thr) c.*734G>C (n.*734G>C) c.953G>C (p.Ser318Thr) | dbSNP |
1 | g.7663512G= | CA1152023652 | CAMTA1 | c.965G= (p.Ser322=) c.*816G= (n.*816G=) c.875G= (p.Ser292=) c.893G= (p.Ser298=) c.*734G= (n.*734G=) c.953G= (p.Ser318=) | |
1 | g.7663512G>T | CA338122328 | CAMTA1 | c.965G>T (p.Ser322Ile) c.*816G>T (n.*816G>T) c.875G>T (p.Ser292Ile) c.893G>T (p.Ser298Ile) c.*734G>T (n.*734G>T) c.953G>T (p.Ser318Ile) | gnomAD v4 |
1 | g.7663513_7663515del | CA521019642 | CAMTA1 | c.966_968del (p.Arg323del) c.*817_*819del (n.*817_*819del) c.876_878del (p.Arg293del) c.894_896del (p.Arg299del) c.*735_*737del (n.*735_*737del) c.954_956del (p.Arg319del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7663513C>A | CA338122331 | CAMTA1 | c.966C>A (p.Ser322Arg) c.*817C>A (n.*817C>A) c.876C>A (p.Ser292Arg) c.894C>A (p.Ser298Arg) c.*735C>A (n.*735C>A) c.954C>A (p.Ser318Arg) | gnomAD v4 |
1 | g.7663513C>G | CA338122333 | CAMTA1 | c.966C>G (p.Ser322Arg) c.*817C>G (n.*817C>G) c.876C>G (p.Ser292Arg) c.894C>G (p.Ser298Arg) c.*735C>G (n.*735C>G) c.954C>G (p.Ser318Arg) | |
1 | g.7663513C>T | CA416026408 | CAMTA1 | c.966C>T (p.Ser322=) c.*817C>T (n.*817C>T) c.876C>T (p.Ser292=) c.894C>T (p.Ser298=) c.*735C>T (n.*735C>T) c.954C>T (p.Ser318=) | gnomAD v4 |
1 | g.7663514C>A | CA338122335 | CAMTA1 | c.967C>A (p.Arg323Ser) c.*818C>A (n.*818C>A) c.877C>A (p.Arg293Ser) c.895C>A (p.Arg299Ser) c.*736C>A (n.*736C>A) c.955C>A (p.Arg319Ser) | |
1 | g.7663514C= | CA1144198674 | CAMTA1 | c.967C= (p.Arg323=) c.*818C= (n.*818C=) c.877C= (p.Arg293=) c.895C= (p.Arg299=) c.*736C= (n.*736C=) c.955C= (p.Arg319=) | |
1 | g.7663514C>G | CA566341 | CAMTA1 | c.967C>G (p.Arg323Gly) c.*818C>G (n.*818C>G) c.877C>G (p.Arg293Gly) c.895C>G (p.Arg299Gly) c.*736C>G (n.*736C>G) c.955C>G (p.Arg319Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663514C>T | CA566340 | CAMTA1 | c.967C>T (p.Arg323Cys) c.*818C>T (n.*818C>T) c.877C>T (p.Arg293Cys) c.895C>T (p.Arg299Cys) c.*736C>T (n.*736C>T) c.955C>T (p.Arg319Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663515G>A | CA338122338 | CAMTA1 | c.968G>A (p.Arg323His) c.*819G>A (n.*819G>A) c.878G>A (p.Arg293His) c.896G>A (p.Arg299His) c.*737G>A (n.*737G>A) c.956G>A (p.Arg319His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663515G>C | CA338122339 | CAMTA1 | c.968G>C (p.Arg323Pro) c.*819G>C (n.*819G>C) c.878G>C (p.Arg293Pro) c.896G>C (p.Arg299Pro) c.*737G>C (n.*737G>C) c.956G>C (p.Arg319Pro) | gnomAD v4 |
1 | g.7663515G= | CA1152023653 | CAMTA1 | c.968G= (p.Arg323=) c.*819G= (n.*819G=) c.878G= (p.Arg293=) c.896G= (p.Arg299=) c.*737G= (n.*737G=) c.956G= (p.Arg319=) | |
1 | g.7663515G>T | CA338122341 | CAMTA1 | c.968G>T (p.Arg323Leu) c.*819G>T (n.*819G>T) c.878G>T (p.Arg293Leu) c.896G>T (p.Arg299Leu) c.*737G>T (n.*737G>T) c.956G>T (p.Arg319Leu) | dbSNP gnomAD v4 |
1 | g.7663516T>A | CA416026411 | CAMTA1 | c.969T>A (p.Arg323=) c.*820T>A (n.*820T>A) c.879T>A (p.Arg293=) c.897T>A (p.Arg299=) c.*738T>A (n.*738T>A) c.957T>A (p.Arg319=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7663516T>C | CA416026410 | CAMTA1 | c.969T>C (p.Arg323=) c.*820T>C (n.*820T>C) c.879T>C (p.Arg293=) c.897T>C (p.Arg299=) c.*738T>C (n.*738T>C) c.957T>C (p.Arg319=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.7663516T>G | CA416026409 | CAMTA1 | c.969T>G (p.Arg323=) c.*820T>G (n.*820T>G) c.879T>G (p.Arg293=) c.897T>G (p.Arg299=) c.*738T>G (n.*738T>G) c.957T>G (p.Arg319=) | gnomAD v4 |
1 | g.7663516T= | CA1152023654 | CAMTA1 | c.969T= (p.Arg323=) c.*820T= (n.*820T=) c.879T= (p.Arg293=) c.897T= (p.Arg299=) c.*738T= (n.*738T=) c.957T= (p.Arg319=) | |
1 | g.7663517G>A | CA338122345 | CAMTA1 | c.970G>A (p.Glu324Lys) c.*821G>A (n.*821G>A) c.880G>A (p.Glu294Lys) c.898G>A (p.Glu300Lys) c.*739G>A (n.*739G>A) c.958G>A (p.Glu320Lys) | |
1 | g.7663517G>C | CA338122342 | CAMTA1 | c.970G>C (p.Glu324Gln) c.*821G>C (n.*821G>C) c.880G>C (p.Glu294Gln) c.898G>C (p.Glu300Gln) c.*739G>C (n.*739G>C) c.958G>C (p.Glu320Gln) | |
1 | g.7663517G>T | CA338122343 | CAMTA1 | c.970G>T (p.Glu324Ter) c.*821G>T (n.*821G>T) c.880G>T (p.Glu294Ter) c.898G>T (p.Glu300Ter) c.*739G>T (n.*739G>T) c.958G>T (p.Glu320Ter) | COSMIC COSMIC |
1 | g.7663518A>C | CA338122347 | CAMTA1 | c.971A>C (p.Glu324Ala) c.*822A>C (n.*822A>C) c.881A>C (p.Glu294Ala) c.899A>C (p.Glu300Ala) c.*740A>C (n.*740A>C) c.959A>C (p.Glu320Ala) | |
1 | g.7663518A>G | CA338122348 | CAMTA1 | c.971A>G (p.Glu324Gly) c.*822A>G (n.*822A>G) c.881A>G (p.Glu294Gly) c.899A>G (p.Glu300Gly) c.*740A>G (n.*740A>G) c.959A>G (p.Glu320Gly) | |
1 | g.7663518A>T | CA338122350 | CAMTA1 | c.971A>T (p.Glu324Val) c.*822A>T (n.*822A>T) c.881A>T (p.Glu294Val) c.899A>T (p.Glu300Val) c.*740A>T (n.*740A>T) c.959A>T (p.Glu320Val) | |
1 | g.7663519G>A | CA416026412 | CAMTA1 | c.972G>A (p.Glu324=) c.*823G>A (n.*823G>A) c.882G>A (p.Glu294=) c.900G>A (p.Glu300=) c.*741G>A (n.*741G>A) c.960G>A (p.Glu320=) | |
1 | g.7663519G>C | CA338122351 | CAMTA1 | c.972G>C (p.Glu324Asp) c.*823G>C (n.*823G>C) c.882G>C (p.Glu294Asp) c.900G>C (p.Glu300Asp) c.*741G>C (n.*741G>C) c.960G>C (p.Glu320Asp) | |
1 | g.7663519G>T | CA338122353 | CAMTA1 | c.972G>T (p.Glu324Asp) c.*823G>T (n.*823G>T) c.882G>T (p.Glu294Asp) c.900G>T (p.Glu300Asp) c.*741G>T (n.*741G>T) c.960G>T (p.Glu320Asp) | |
1 | g.7663520A>C | CA338122355 | CAMTA1 | c.973A>C (p.Lys325Gln) c.*824A>C (n.*824A>C) c.883A>C (p.Lys295Gln) c.901A>C (p.Lys301Gln) c.*742A>C (n.*742A>C) c.961A>C (p.Lys321Gln) | |
1 | g.7663520A>G | CA338122359 | CAMTA1 | c.973A>G (p.Lys325Glu) c.*824A>G (n.*824A>G) c.883A>G (p.Lys295Glu) c.901A>G (p.Lys301Glu) c.*742A>G (n.*742A>G) c.961A>G (p.Lys321Glu) | |
1 | g.7663520A>T | CA338122357 | CAMTA1 | c.973A>T (p.Lys325Ter) c.*824A>T (n.*824A>T) c.883A>T (p.Lys295Ter) c.901A>T (p.Lys301Ter) c.*742A>T (n.*742A>T) c.961A>T (p.Lys321Ter) | |
1 | g.7663521A= | CA1152023655 | CAMTA1 | c.974A= (p.Lys325=) c.*825A= (n.*825A=) c.884A= (p.Lys295=) c.902A= (p.Lys301=) c.*743A= (n.*743A=) c.962A= (p.Lys321=) | |
1 | g.7663521A>C | CA338122362 | CAMTA1 | c.974A>C (p.Lys325Thr) c.*825A>C (n.*825A>C) c.884A>C (p.Lys295Thr) c.902A>C (p.Lys301Thr) c.*743A>C (n.*743A>C) c.962A>C (p.Lys321Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7663521A>G | CA338122363 | CAMTA1 | c.974A>G (p.Lys325Arg) c.*825A>G (n.*825A>G) c.884A>G (p.Lys295Arg) c.902A>G (p.Lys301Arg) c.*743A>G (n.*743A>G) c.962A>G (p.Lys321Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7663521A>T | CA338122364 | CAMTA1 | c.974A>T (p.Lys325Met) c.*825A>T (n.*825A>T) c.884A>T (p.Lys295Met) c.902A>T (p.Lys301Met) c.*743A>T (n.*743A>T) c.962A>T (p.Lys321Met) | |
1 | g.7663522G>A | CA566342 | CAMTA1 | c.975G>A (p.Lys325=) c.*826G>A (n.*826G>A) c.885G>A (p.Lys295=) c.903G>A (p.Lys301=) c.*744G>A (n.*744G>A) c.963G>A (p.Lys321=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663522G>C | CA338122367 | CAMTA1 | c.975G>C (p.Lys325Asn) c.*826G>C (n.*826G>C) c.885G>C (p.Lys295Asn) c.903G>C (p.Lys301Asn) c.*744G>C (n.*744G>C) c.963G>C (p.Lys321Asn) | |
1 | g.7663522G= | CA1152023656 | CAMTA1 | c.975G= (p.Lys325=) c.*826G= (n.*826G=) c.885G= (p.Lys295=) c.903G= (p.Lys301=) c.*744G= (n.*744G=) c.963G= (p.Lys321=) | |
1 | g.7663522G>T | CA338122369 | CAMTA1 | c.975G>T (p.Lys325Asn) c.*826G>T (n.*826G>T) c.885G>T (p.Lys295Asn) c.903G>T (p.Lys301Asn) c.*744G>T (n.*744G>T) c.963G>T (p.Lys321Asn) | |
1 | g.7663523A>C | CA416026413 | CAMTA1 | c.976A>C (p.Arg326=) c.*827A>C (n.*827A>C) c.886A>C (p.Arg296=) c.904A>C (p.Arg302=) c.*745A>C (n.*745A>C) c.964A>C (p.Arg322=) | |
1 | g.7663523A>G | CA338122371 | CAMTA1 | c.976A>G (p.Arg326Gly) c.*827A>G (n.*827A>G) c.886A>G (p.Arg296Gly) c.904A>G (p.Arg302Gly) c.*745A>G (n.*745A>G) c.964A>G (p.Arg322Gly) | |
1 | g.7663523A>T | CA338122373 | CAMTA1 | c.976A>T (p.Arg326Trp) c.*827A>T (n.*827A>T) c.886A>T (p.Arg296Trp) c.904A>T (p.Arg302Trp) c.*745A>T (n.*745A>T) c.964A>T (p.Arg322Trp) | |
1 | g.7663524G>A | CA338122375 | CAMTA1 | c.977G>A (p.Arg326Lys) c.*828G>A (n.*828G>A) c.887G>A (p.Arg296Lys) c.905G>A (p.Arg302Lys) c.*746G>A (n.*746G>A) c.965G>A (p.Arg322Lys) | |
1 | g.7663524G>C | CA338122377 | CAMTA1 | c.977G>C (p.Arg326Thr) c.*828G>C (n.*828G>C) c.887G>C (p.Arg296Thr) c.905G>C (p.Arg302Thr) c.*746G>C (n.*746G>C) c.965G>C (p.Arg322Thr) | |
1 | g.7663524G>T | CA338122380 | CAMTA1 | c.977G>T (p.Arg326Met) c.*828G>T (n.*828G>T) c.887G>T (p.Arg296Met) c.905G>T (p.Arg302Met) c.*746G>T (n.*746G>T) c.965G>T (p.Arg322Met) | |
1 | g.7663525G>A | CA416026414 | CAMTA1 | c.978G>A (p.Arg326=) c.*829G>A (n.*829G>A) c.888G>A (p.Arg296=) c.906G>A (p.Arg302=) c.*747G>A (n.*747G>A) c.966G>A (p.Arg322=) | |
1 | g.7663525G>C | CA338122387 | CAMTA1 | c.978G>C (p.Arg326Ser) c.*829G>C (n.*829G>C) c.888G>C (p.Arg296Ser) c.906G>C (p.Arg302Ser) c.*747G>C (n.*747G>C) c.966G>C (p.Arg322Ser) | gnomAD v4 |
1 | g.7663525G>T | CA338122384 | CAMTA1 | c.978G>T (p.Arg326Ser) c.*829G>T (n.*829G>T) c.888G>T (p.Arg296Ser) c.906G>T (p.Arg302Ser) c.*747G>T (n.*747G>T) c.966G>T (p.Arg322Ser) | |
1 | g.7663526A>C | CA338122394 | CAMTA1 | c.979A>C (p.Asn327His) c.*830A>C (n.*830A>C) c.889A>C (p.Asn297His) c.907A>C (p.Asn303His) c.*748A>C (n.*748A>C) c.967A>C (p.Asn323His) | |
1 | g.7663526A>G | CA338122396 | CAMTA1 | c.979A>G (p.Asn327Asp) c.*830A>G (n.*830A>G) c.889A>G (p.Asn297Asp) c.907A>G (p.Asn303Asp) c.*748A>G (n.*748A>G) c.967A>G (p.Asn323Asp) | |
1 | g.7663526A>T | CA338122398 | CAMTA1 | c.979A>T (p.Asn327Tyr) c.*830A>T (n.*830A>T) c.889A>T (p.Asn297Tyr) c.907A>T (p.Asn303Tyr) c.*748A>T (n.*748A>T) c.967A>T (p.Asn323Tyr) | |
1 | g.7663527A>C | CA338122400 | CAMTA1 | c.980A>C (p.Asn327Thr) c.*831A>C (n.*831A>C) c.890A>C (p.Asn297Thr) c.908A>C (p.Asn303Thr) c.*749A>C (n.*749A>C) c.968A>C (p.Asn323Thr) | |
1 | g.7663527A>G | CA338122401 | CAMTA1 | c.980A>G (p.Asn327Ser) c.*831A>G (n.*831A>G) c.890A>G (p.Asn297Ser) c.908A>G (p.Asn303Ser) c.*749A>G (n.*749A>G) c.968A>G (p.Asn323Ser) | |
1 | g.7663527A>T | CA338122404 | CAMTA1 | c.980A>T (p.Asn327Ile) c.*831A>T (n.*831A>T) c.890A>T (p.Asn297Ile) c.908A>T (p.Asn303Ile) c.*749A>T (n.*749A>T) c.968A>T (p.Asn323Ile) | |
1 | g.7663528C>A | CA338122408 | CAMTA1 | c.981C>A (p.Asn327Lys) c.*832C>A (n.*832C>A) c.891C>A (p.Asn297Lys) c.909C>A (p.Asn303Lys) c.*750C>A (n.*750C>A) c.969C>A (p.Asn323Lys) | |
1 | g.7663528C= | CA1139990301 | CAMTA1 | c.981C= (p.Asn327=) c.*832C= (n.*832C=) c.891C= (p.Asn297=) c.909C= (p.Asn303=) c.*750C= (n.*750C=) c.969C= (p.Asn323=) | |
1 | g.7663528C>G | CA338122407 | CAMTA1 | c.981C>G (p.Asn327Lys) c.*832C>G (n.*832C>G) c.891C>G (p.Asn297Lys) c.909C>G (p.Asn303Lys) c.*750C>G (n.*750C>G) c.969C>G (p.Asn323Lys) | gnomAD v4 |
1 | g.7663528C>T | CA152136 | CAMTA1 | c.981C>T (p.Asn327=) c.*832C>T (n.*832C>T) c.891C>T (p.Asn297=) c.909C>T (p.Asn303=) c.*750C>T (n.*750C>T) c.969C>T (p.Asn323=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663529G>A | CA566343 | CAMTA1 | c.982G>A (p.Gly328Ser) c.*833G>A (n.*833G>A) c.892G>A (p.Gly298Ser) c.910G>A (p.Gly304Ser) c.*751G>A (n.*751G>A) c.970G>A (p.Gly324Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.7663529G>C | CA566344 | CAMTA1 | c.982G>C (p.Gly328Arg) c.*833G>C (n.*833G>C) c.892G>C (p.Gly298Arg) c.910G>C (p.Gly304Arg) c.*751G>C (n.*751G>C) c.970G>C (p.Gly324Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663529G= | CA1143486532 | CAMTA1 | c.982G= (p.Gly328=) c.*833G= (n.*833G=) c.892G= (p.Gly298=) c.910G= (p.Gly304=) c.*751G= (n.*751G=) c.970G= (p.Gly324=) | |
1 | g.7663529G>T | CA338122415 | CAMTA1 | c.982G>T (p.Gly328Cys) c.*833G>T (n.*833G>T) c.892G>T (p.Gly298Cys) c.910G>T (p.Gly304Cys) c.*751G>T (n.*751G>T) c.970G>T (p.Gly324Cys) | |
1 | g.7663530G>A | CA338122417 | CAMTA1 | c.983G>A (p.Gly328Asp) c.*834G>A (n.*834G>A) c.893G>A (p.Gly298Asp) c.911G>A (p.Gly304Asp) c.*752G>A (n.*752G>A) c.971G>A (p.Gly324Asp) | gnomAD v4 |
1 | g.7663530G>C | CA338122421 | CAMTA1 | c.983G>C (p.Gly328Ala) c.*834G>C (n.*834G>C) c.893G>C (p.Gly298Ala) c.911G>C (p.Gly304Ala) c.*752G>C (n.*752G>C) c.971G>C (p.Gly324Ala) | |
1 | g.7663530G>T | CA338122424 | CAMTA1 | c.983G>T (p.Gly328Val) c.*834G>T (n.*834G>T) c.893G>T (p.Gly298Val) c.911G>T (p.Gly304Val) c.*752G>T (n.*752G>T) c.971G>T (p.Gly324Val) | |
1 | g.7663531C>A | CA416026415 | CAMTA1 | c.984C>A (p.Gly328=) c.*835C>A (n.*835C>A) c.894C>A (p.Gly298=) c.912C>A (p.Gly304=) c.*753C>A (n.*753C>A) c.972C>A (p.Gly324=) | |
1 | g.7663531C>G | CA416026416 | CAMTA1 | c.984C>G (p.Gly328=) c.*835C>G (n.*835C>G) c.894C>G (p.Gly298=) c.912C>G (p.Gly304=) c.*753C>G (n.*753C>G) c.972C>G (p.Gly324=) | |
1 | g.7663531C>T | CA416026417 | CAMTA1 | c.984C>T (p.Gly328=) c.*835C>T (n.*835C>T) c.894C>T (p.Gly298=) c.912C>T (p.Gly304=) c.*753C>T (n.*753C>T) c.972C>T (p.Gly324=) | |
1 | g.7663532A>C | CA338122426 | CAMTA1 | c.985A>C (p.Lys329Gln) c.*836A>C (n.*836A>C) c.895A>C (p.Lys299Gln) c.913A>C (p.Lys305Gln) c.*754A>C (n.*754A>C) c.973A>C (p.Lys325Gln) | |
1 | g.7663532A>G | CA338122437 | CAMTA1 | c.985A>G (p.Lys329Glu) c.*836A>G (n.*836A>G) c.895A>G (p.Lys299Glu) c.913A>G (p.Lys305Glu) c.*754A>G (n.*754A>G) c.973A>G (p.Lys325Glu) | |
1 | g.7663532A>T | CA338122429 | CAMTA1 | c.985A>T (p.Lys329Ter) c.*836A>T (n.*836A>T) c.895A>T (p.Lys299Ter) c.913A>T (p.Lys305Ter) c.*754A>T (n.*754A>T) c.973A>T (p.Lys325Ter) | |
1 | g.7663533A= | CA1142407558 | CAMTA1 | c.986A= (p.Lys329=) c.*837A= (n.*837A=) c.896A= (p.Lys299=) c.914A= (p.Lys305=) c.*755A= (n.*755A=) c.974A= (p.Lys325=) | |
1 | g.7663533A>C | CA338122440 | CAMTA1 | c.986A>C (p.Lys329Thr) c.*837A>C (n.*837A>C) c.896A>C (p.Lys299Thr) c.914A>C (p.Lys305Thr) c.*755A>C (n.*755A>C) c.974A>C (p.Lys325Thr) | |
1 | g.7663533A>G | CA566345 | CAMTA1 | c.986A>G (p.Lys329Arg) c.*837A>G (n.*837A>G) c.896A>G (p.Lys299Arg) c.914A>G (p.Lys305Arg) c.*755A>G (n.*755A>G) c.974A>G (p.Lys325Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663533A>T | CA338122444 | CAMTA1 | c.986A>T (p.Lys329Met) c.*837A>T (n.*837A>T) c.896A>T (p.Lys299Met) c.914A>T (p.Lys305Met) c.*755A>T (n.*755A>T) c.974A>T (p.Lys325Met) | |
1 | g.7663534G>A | CA416026418 | CAMTA1 | c.987G>A (p.Lys329=) c.*838G>A (n.*838G>A) c.897G>A (p.Lys299=) c.915G>A (p.Lys305=) c.*756G>A (n.*756G>A) c.975G>A (p.Lys325=) | |
1 | g.7663534G>C | CA338122447 | CAMTA1 | c.987G>C (p.Lys329Asn) c.*838G>C (n.*838G>C) c.897G>C (p.Lys299Asn) c.915G>C (p.Lys305Asn) c.*756G>C (n.*756G>C) c.975G>C (p.Lys325Asn) | |
1 | g.7663534G>T | CA338122448 | CAMTA1 | c.987G>T (p.Lys329Asn) c.*838G>T (n.*838G>T) c.897G>T (p.Lys299Asn) c.915G>T (p.Lys305Asn) c.*756G>T (n.*756G>T) c.975G>T (p.Lys325Asn) | |
1 | g.7663535G>A | CA338122449 | CAMTA1 | c.988G>A (p.Val330Met) c.*839G>A (n.*839G>A) c.898G>A (p.Val300Met) c.916G>A (p.Val306Met) c.*757G>A (n.*757G>A) c.976G>A (p.Val326Met) | |
1 | g.7663535G>C | CA338122451 | CAMTA1 | c.988G>C (p.Val330Leu) c.*839G>C (n.*839G>C) c.898G>C (p.Val300Leu) c.916G>C (p.Val306Leu) c.*757G>C (n.*757G>C) c.976G>C (p.Val326Leu) | |
1 | g.7663535G>T | CA338122452 | CAMTA1 | c.988G>T (p.Val330Leu) c.*839G>T (n.*839G>T) c.898G>T (p.Val300Leu) c.916G>T (p.Val306Leu) c.*757G>T (n.*757G>T) c.976G>T (p.Val326Leu) | gnomAD v4 |
1 | g.7663536T>A | CA338122453 | CAMTA1 | c.989T>A (p.Val330Glu) c.*840T>A (n.*840T>A) c.899T>A (p.Val300Glu) c.917T>A (p.Val306Glu) c.*758T>A (n.*758T>A) c.977T>A (p.Val326Glu) | |
1 | g.7663536T>C | CA338122455 | CAMTA1 | c.989T>C (p.Val330Ala) c.*840T>C (n.*840T>C) c.899T>C (p.Val300Ala) c.917T>C (p.Val306Ala) c.*758T>C (n.*758T>C) c.977T>C (p.Val326Ala) | |
1 | g.7663536T>G | CA566346 | CAMTA1 | c.989T>G (p.Val330Gly) c.*840T>G (n.*840T>G) c.899T>G (p.Val300Gly) c.917T>G (p.Val306Gly) c.*758T>G (n.*758T>G) c.977T>G (p.Val326Gly) | dbSNP ExAC gnomAD v2 |
1 | g.7663536T= | CA1152023657 | CAMTA1 | c.989T= (p.Val330=) c.*840T= (n.*840T=) c.899T= (p.Val300=) c.917T= (p.Val306=) c.*758T= (n.*758T=) c.977T= (p.Val326=) | |
1 | g.7663537G>A | CA566347 | CAMTA1 | c.990G>A (p.Val330=) c.*841G>A (n.*841G>A) c.900G>A (p.Val300=) c.918G>A (p.Val306=) c.*759G>A (n.*759G>A) c.978G>A (p.Val326=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663537G>C | CA416026419 | CAMTA1 | c.990G>C (p.Val330=) c.*841G>C (n.*841G>C) c.900G>C (p.Val300=) c.918G>C (p.Val306=) c.*759G>C (n.*759G>C) c.978G>C (p.Val326=) | |
1 | g.7663537G= | CA1152023658 | CAMTA1 | c.990G= (p.Val330=) c.*841G= (n.*841G=) c.900G= (p.Val300=) c.918G= (p.Val306=) c.*759G= (n.*759G=) c.978G= (p.Val326=) | |
1 | g.7663537G>T | CA416026420 | CAMTA1 | c.990G>T (p.Val330=) c.*841G>T (n.*841G>T) c.900G>T (p.Val300=) c.918G>T (p.Val306=) c.*759G>T (n.*759G>T) c.978G>T (p.Val326=) | |
1 | g.7663538G>A | CA338122459 | CAMTA1 | c.991G>A (p.Ala331Thr) c.*842G>A (n.*842G>A) c.901G>A (p.Ala301Thr) c.919G>A (p.Ala307Thr) c.*760G>A (n.*760G>A) c.979G>A (p.Ala327Thr) | |
1 | g.7663538G>C | CA338122464 | CAMTA1 | c.991G>C (p.Ala331Pro) c.*842G>C (n.*842G>C) c.901G>C (p.Ala301Pro) c.919G>C (p.Ala307Pro) c.*760G>C (n.*760G>C) c.979G>C (p.Ala327Pro) | |
1 | g.7663538G>T | CA338122461 | CAMTA1 | c.991G>T (p.Ala331Ser) c.*842G>T (n.*842G>T) c.901G>T (p.Ala301Ser) c.919G>T (p.Ala307Ser) c.*760G>T (n.*760G>T) c.979G>T (p.Ala327Ser) | |
1 | g.7663539C>A | CA338122466 | CAMTA1 | c.992C>A (p.Ala331Asp) c.*843C>A (n.*843C>A) c.902C>A (p.Ala301Asp) c.920C>A (p.Ala307Asp) c.*761C>A (n.*761C>A) c.980C>A (p.Ala327Asp) | |
1 | g.7663539C>G | CA338122468 | CAMTA1 | c.992C>G (p.Ala331Gly) c.*843C>G (n.*843C>G) c.902C>G (p.Ala301Gly) c.920C>G (p.Ala307Gly) c.*761C>G (n.*761C>G) c.980C>G (p.Ala327Gly) | |
1 | g.7663539C>T | CA338122467 | CAMTA1 | c.992C>T (p.Ala331Val) c.*843C>T (n.*843C>T) c.902C>T (p.Ala301Val) c.920C>T (p.Ala307Val) c.*761C>T (n.*761C>T) c.980C>T (p.Ala327Val) | gnomAD v4 |
1 | g.7663540C>A | CA416026423 | CAMTA1 | c.993C>A (p.Ala331=) c.*844C>A (n.*844C>A) c.903C>A (p.Ala301=) c.921C>A (p.Ala307=) c.*762C>A (n.*762C>A) c.981C>A (p.Ala327=) | |
1 | g.7663540C>G | CA416026421 | CAMTA1 | c.993C>G (p.Ala331=) c.*844C>G (n.*844C>G) c.903C>G (p.Ala301=) c.921C>G (p.Ala307=) c.*762C>G (n.*762C>G) c.981C>G (p.Ala327=) | |
1 | g.7663540C>T | CA416026422 | CAMTA1 | c.993C>T (p.Ala331=) c.*844C>T (n.*844C>T) c.903C>T (p.Ala301=) c.921C>T (p.Ala307=) c.*762C>T (n.*762C>T) c.981C>T (p.Ala327=) | |
1 | g.7663541A>C | CA338122469 | CAMTA1 | c.994A>C (p.Lys332Gln) c.*845A>C (n.*845A>C) c.904A>C (p.Lys302Gln) c.922A>C (p.Lys308Gln) c.*763A>C (n.*763A>C) c.982A>C (p.Lys328Gln) | |
1 | g.7663541A>G | CA338122472 | CAMTA1 | c.994A>G (p.Lys332Glu) c.*845A>G (n.*845A>G) c.904A>G (p.Lys302Glu) c.922A>G (p.Lys308Glu) c.*763A>G (n.*763A>G) c.982A>G (p.Lys328Glu) | |
1 | g.7663541A>T | CA338122470 | CAMTA1 | c.994A>T (p.Lys332Ter) c.*845A>T (n.*845A>T) c.904A>T (p.Lys302Ter) c.922A>T (p.Lys308Ter) c.*763A>T (n.*763A>T) c.982A>T (p.Lys328Ter) | |
1 | g.7663542A>C | CA338122475 | CAMTA1 | c.995A>C (p.Lys332Thr) c.*846A>C (n.*846A>C) c.905A>C (p.Lys302Thr) c.923A>C (p.Lys308Thr) c.*764A>C (n.*764A>C) c.983A>C (p.Lys328Thr) | |
1 | g.7663542A>G | CA338122481 | CAMTA1 | c.995A>G (p.Lys332Arg) c.*846A>G (n.*846A>G) c.905A>G (p.Lys302Arg) c.923A>G (p.Lys308Arg) c.*764A>G (n.*764A>G) c.983A>G (p.Lys328Arg) | |
1 | g.7663542A>T | CA338122483 | CAMTA1 | c.995A>T (p.Lys332Met) c.*846A>T (n.*846A>T) c.905A>T (p.Lys302Met) c.923A>T (p.Lys308Met) c.*764A>T (n.*764A>T) c.983A>T (p.Lys328Met) | |
1 | g.7663543G>A | CA416026424 | CAMTA1 | c.996G>A (p.Lys332=) c.*847G>A (n.*847G>A) c.906G>A (p.Lys302=) c.924G>A (p.Lys308=) c.*765G>A (n.*765G>A) c.984G>A (p.Lys328=) | |
1 | g.7663543G>C | CA338122486 | CAMTA1 | c.996G>C (p.Lys332Asn) c.*847G>C (n.*847G>C) c.906G>C (p.Lys302Asn) c.924G>C (p.Lys308Asn) c.*765G>C (n.*765G>C) c.984G>C (p.Lys328Asn) | |
1 | g.7663543G>T | CA338122488 | CAMTA1 | c.996G>T (p.Lys332Asn) c.*847G>T (n.*847G>T) c.906G>T (p.Lys302Asn) c.924G>T (p.Lys308Asn) c.*765G>T (n.*765G>T) c.984G>T (p.Lys328Asn) | |
1 | g.7663544C>A | CA338122491 | CAMTA1 | c.997C>A (p.Pro333Thr) c.*848C>A (n.*848C>A) c.907C>A (p.Pro303Thr) c.925C>A (p.Pro309Thr) c.*766C>A (n.*766C>A) c.985C>A (p.Pro329Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7663544C= | CA1152023659 | CAMTA1 | c.997C= (p.Pro333=) c.*848C= (n.*848C=) c.907C= (p.Pro303=) c.925C= (p.Pro309=) c.*766C= (n.*766C=) c.985C= (p.Pro329=) | |
1 | g.7663544C>G | CA338122494 | CAMTA1 | c.997C>G (p.Pro333Ala) c.*848C>G (n.*848C>G) c.907C>G (p.Pro303Ala) c.925C>G (p.Pro309Ala) c.*766C>G (n.*766C>G) c.985C>G (p.Pro329Ala) | |
1 | g.7663544C>T | CA338122495 | CAMTA1 | c.997C>T (p.Pro333Ser) c.*848C>T (n.*848C>T) c.907C>T (p.Pro303Ser) c.925C>T (p.Pro309Ser) c.*766C>T (n.*766C>T) c.985C>T (p.Pro329Ser) | dbSNP gnomAD v4 |
1 | g.7663545C>A | CA338122498 | CAMTA1 | c.998C>A (p.Pro333His) c.*849C>A (n.*849C>A) c.908C>A (p.Pro303His) c.926C>A (p.Pro309His) c.*767C>A (n.*767C>A) c.986C>A (p.Pro329His) | |
1 | g.7663545C>G | CA338122500 | CAMTA1 | c.998C>G (p.Pro333Arg) c.*849C>G (n.*849C>G) c.908C>G (p.Pro303Arg) c.926C>G (p.Pro309Arg) c.*767C>G (n.*767C>G) c.986C>G (p.Pro329Arg) | |
1 | g.7663545C>T | CA338122502 | CAMTA1 | c.998C>T (p.Pro333Leu) c.*849C>T (n.*849C>T) c.908C>T (p.Pro303Leu) c.926C>T (p.Pro309Leu) c.*767C>T (n.*767C>T) c.986C>T (p.Pro329Leu) | |
1 | g.7663546C>A | CA416026425 | CAMTA1 | c.999C>A (p.Pro333=) c.*850C>A (n.*850C>A) c.909C>A (p.Pro303=) c.927C>A (p.Pro309=) c.*768C>A (n.*768C>A) c.987C>A (p.Pro329=) | |
1 | g.7663546C= | CA1152023660 | CAMTA1 | c.999C= (p.Pro333=) c.*850C= (n.*850C=) c.909C= (p.Pro303=) c.927C= (p.Pro309=) c.*768C= (n.*768C=) c.987C= (p.Pro329=) | |
1 | g.7663546C>G | CA416026426 | CAMTA1 | c.999C>G (p.Pro333=) c.*850C>G (n.*850C>G) c.909C>G (p.Pro303=) c.927C>G (p.Pro309=) c.*768C>G (n.*768C>G) c.987C>G (p.Pro329=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.7663546C>T | CA566348 | CAMTA1 | c.999C>T (p.Pro333=) c.*850C>T (n.*850C>T) c.909C>T (p.Pro303=) c.927C>T (p.Pro309=) c.*768C>T (n.*768C>T) c.987C>T (p.Pro329=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.7663547G>A | CA566349 | CAMTA1 | c.1000G>A (p.Val334Met) c.*851G>A (n.*851G>A) c.910G>A (p.Val304Met) c.928G>A (p.Val310Met) c.*769G>A (n.*769G>A) c.988G>A (p.Val330Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663547G>C | CA338122509 | CAMTA1 | c.1000G>C (p.Val334Leu) c.*851G>C (n.*851G>C) c.910G>C (p.Val304Leu) c.928G>C (p.Val310Leu) c.*769G>C (n.*769G>C) c.988G>C (p.Val330Leu) | |
1 | g.7663547G= | CA1142127494 | CAMTA1 | c.1000G= (p.Val334=) c.*851G= (n.*851G=) c.910G= (p.Val304=) c.928G= (p.Val310=) c.*769G= (n.*769G=) c.988G= (p.Val330=) | |
1 | g.7663547G>T | CA338122508 | CAMTA1 | c.1000G>T (p.Val334Leu) c.*851G>T (n.*851G>T) c.910G>T (p.Val304Leu) c.928G>T (p.Val310Leu) c.*769G>T (n.*769G>T) c.988G>T (p.Val330Leu) | |
1 | g.7663548T>A | CA338122512 | CAMTA1 | c.1001T>A (p.Val334Glu) c.*852T>A (n.*852T>A) c.911T>A (p.Val304Glu) c.929T>A (p.Val310Glu) c.*770T>A (n.*770T>A) c.989T>A (p.Val330Glu) | |
1 | g.7663548T>C | CA338122513 | CAMTA1 | c.1001T>C (p.Val334Ala) c.*852T>C (n.*852T>C) c.911T>C (p.Val304Ala) c.929T>C (p.Val310Ala) c.*770T>C (n.*770T>C) c.989T>C (p.Val330Ala) | dbSNP |
1 | g.7663548T>G | CA338122515 | CAMTA1 | c.1001T>G (p.Val334Gly) c.*852T>G (n.*852T>G) c.911T>G (p.Val304Gly) c.929T>G (p.Val310Gly) c.*770T>G (n.*770T>G) c.989T>G (p.Val330Gly) | |
1 | g.7663549G>A | CA416026427 | CAMTA1 | c.1002G>A (p.Val334=) c.*853G>A (n.*853G>A) c.912G>A (p.Val304=) c.930G>A (p.Val310=) c.*771G>A (n.*771G>A) c.990G>A (p.Val330=) | gnomAD v4 |
1 | g.7663549G>C | CA416026428 | CAMTA1 | c.1002G>C (p.Val334=) c.*853G>C (n.*853G>C) c.912G>C (p.Val304=) c.930G>C (p.Val310=) c.*771G>C (n.*771G>C) c.990G>C (p.Val330=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.7663549G= | CA1152023661 | CAMTA1 | c.1002G= (p.Val334=) c.*853G= (n.*853G=) c.912G= (p.Val304=) c.930G= (p.Val310=) c.*771G= (n.*771G=) c.990G= (p.Val330=) | |
1 | g.7663549G>T | CA416026429 | CAMTA1 | c.1002G>T (p.Val334=) c.*853G>T (n.*853G>T) c.912G>T (p.Val304=) c.930G>T (p.Val310=) c.*771G>T (n.*771G>T) c.990G>T (p.Val330=) | |
1 | g.7663550C>A | CA338122518 | CAMTA1 | c.1003C>A (p.Leu335Ile) c.*854C>A (n.*854C>A) c.913C>A (p.Leu305Ile) c.931C>A (p.Leu311Ile) c.*772C>A (n.*772C>A) c.991C>A (p.Leu331Ile) | gnomAD v4 |
1 | g.7663550C>G | CA338122520 | CAMTA1 | c.1003C>G (p.Leu335Val) c.*854C>G (n.*854C>G) c.913C>G (p.Leu305Val) c.931C>G (p.Leu311Val) c.*772C>G (n.*772C>G) c.991C>G (p.Leu331Val) | |
1 | g.7663550C>T | CA338122521 | CAMTA1 | c.1003C>T (p.Leu335Phe) c.*854C>T (n.*854C>T) c.913C>T (p.Leu305Phe) c.931C>T (p.Leu311Phe) c.*772C>T (n.*772C>T) c.991C>T (p.Leu331Phe) | |
1 | g.7663551T>A | CA338122525 | CAMTA1 | c.1004T>A (p.Leu335His) c.*855T>A (n.*855T>A) c.914T>A (p.Leu305His) c.932T>A (p.Leu311His) c.*773T>A (n.*773T>A) c.992T>A (p.Leu331His) | |
1 | g.7663551T>C | CA338122526 | CAMTA1 | c.1004T>C (p.Leu335Pro) c.*855T>C (n.*855T>C) c.914T>C (p.Leu305Pro) c.932T>C (p.Leu311Pro) c.*773T>C (n.*773T>C) c.992T>C (p.Leu331Pro) | |
1 | g.7663551T>G | CA338122528 | CAMTA1 | c.1004T>G (p.Leu335Arg) c.*855T>G (n.*855T>G) c.914T>G (p.Leu305Arg) c.932T>G (p.Leu311Arg) c.*773T>G (n.*773T>G) c.992T>G (p.Leu331Arg) | |
1 | g.7663552C>A | CA416026430 | CAMTA1 | c.1005C>A (p.Leu335=) c.*856C>A (n.*856C>A) c.915C>A (p.Leu305=) c.933C>A (p.Leu311=) c.*774C>A (n.*774C>A) c.993C>A (p.Leu331=) | |
1 | g.7663552C= | CA1152023662 | CAMTA1 | c.1005C= (p.Leu335=) c.*856C= (n.*856C=) c.915C= (p.Leu305=) c.933C= (p.Leu311=) c.*774C= (n.*774C=) c.993C= (p.Leu331=) | |
1 | g.7663552C>G | CA566350 | CAMTA1 | c.1005C>G (p.Leu335=) c.*856C>G (n.*856C>G) c.915C>G (p.Leu305=) c.933C>G (p.Leu311=) c.*774C>G (n.*774C>G) c.993C>G (p.Leu331=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663552C>T | CA416026431 | CAMTA1 | c.1005C>T (p.Leu335=) c.*856C>T (n.*856C>T) c.915C>T (p.Leu305=) c.933C>T (p.Leu311=) c.*774C>T (n.*774C>T) c.993C>T (p.Leu331=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7663553C>A | CA338122535 | CAMTA1 | c.1006C>A (p.Leu336Met) c.*857C>A (n.*857C>A) c.916C>A (p.Leu306Met) c.934C>A (p.Leu312Met) c.*775C>A (n.*775C>A) c.994C>A (p.Leu332Met) | |
1 | g.7663553C>G | CA338122532 | CAMTA1 | c.1006C>G (p.Leu336Val) c.*857C>G (n.*857C>G) c.916C>G (p.Leu306Val) c.934C>G (p.Leu312Val) c.*775C>G (n.*775C>G) c.994C>G (p.Leu332Val) | gnomAD v4 |
1 | g.7663553C>T | CA416026432 | CAMTA1 | c.1006C>T (p.Leu336=) c.*857C>T (n.*857C>T) c.916C>T (p.Leu306=) c.934C>T (p.Leu312=) c.*775C>T (n.*775C>T) c.994C>T (p.Leu332=) | gnomAD v4 |
1 | g.7663554T>A | CA338122536 | CAMTA1 | c.1007T>A (p.Leu336Gln) c.*858T>A (n.*858T>A) c.917T>A (p.Leu306Gln) c.935T>A (p.Leu312Gln) c.*776T>A (n.*776T>A) c.995T>A (p.Leu332Gln) | |
1 | g.7663554T>C | CA338122538 | CAMTA1 | c.1007T>C (p.Leu336Pro) c.*858T>C (n.*858T>C) c.917T>C (p.Leu306Pro) c.935T>C (p.Leu312Pro) c.*776T>C (n.*776T>C) c.995T>C (p.Leu332Pro) | |
1 | g.7663554T>G | CA338122540 | CAMTA1 | c.1007T>G (p.Leu336Arg) c.*858T>G (n.*858T>G) c.917T>G (p.Leu306Arg) c.935T>G (p.Leu312Arg) c.*776T>G (n.*776T>G) c.995T>G (p.Leu332Arg) | |
1 | g.7663555G>A | CA566351 | CAMTA1 | c.1008G>A (p.Leu336=) c.*859G>A (n.*859G>A) c.918G>A (p.Leu306=) c.936G>A (p.Leu312=) c.*777G>A (n.*777G>A) c.996G>A (p.Leu332=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663555G>C | CA416026433 | CAMTA1 | c.1008G>C (p.Leu336=) c.*859G>C (n.*859G>C) c.918G>C (p.Leu306=) c.936G>C (p.Leu312=) c.*777G>C (n.*777G>C) c.996G>C (p.Leu332=) | |
1 | g.7663555G= | CA1152023663 | CAMTA1 | c.1008G= (p.Leu336=) c.*859G= (n.*859G=) c.918G= (p.Leu306=) c.936G= (p.Leu312=) c.*777G= (n.*777G=) c.996G= (p.Leu332=) | |
1 | g.7663555G>T | CA416026434 | CAMTA1 | c.1008G>T (p.Leu336=) c.*859G>T (n.*859G>T) c.918G>T (p.Leu306=) c.936G>T (p.Leu312=) c.*777G>T (n.*777G>T) c.996G>T (p.Leu332=) | |
1 | g.7663556C>A | CA338122544 | CAMTA1 | c.1009C>A (p.His337Asn) c.*860C>A (n.*860C>A) c.919C>A (p.His307Asn) c.937C>A (p.His313Asn) c.*778C>A (n.*778C>A) c.997C>A (p.His333Asn) | |
1 | g.7663556C>G | CA338122547 | CAMTA1 | c.1009C>G (p.His337Asp) c.*860C>G (n.*860C>G) c.919C>G (p.His307Asp) c.937C>G (p.His313Asp) c.*778C>G (n.*778C>G) c.997C>G (p.His333Asp) | |
1 | g.7663556C>T | CA338122549 | CAMTA1 | c.1009C>T (p.His337Tyr) c.*860C>T (n.*860C>T) c.919C>T (p.His307Tyr) c.937C>T (p.His313Tyr) c.*778C>T (n.*778C>T) c.997C>T (p.His333Tyr) | |
1 | g.7663557A>C | CA338122552 | CAMTA1 | c.1010A>C (p.His337Pro) c.*861A>C (n.*861A>C) c.920A>C (p.His307Pro) c.938A>C (p.His313Pro) c.*779A>C (n.*779A>C) c.998A>C (p.His333Pro) | |
1 | g.7663557A>G | CA338122555 | CAMTA1 | c.1010A>G (p.His337Arg) c.*861A>G (n.*861A>G) c.920A>G (p.His307Arg) c.938A>G (p.His313Arg) c.*779A>G (n.*779A>G) c.998A>G (p.His333Arg) | |
1 | g.7663557A>T | CA338122557 | CAMTA1 | c.1010A>T (p.His337Leu) c.*861A>T (n.*861A>T) c.920A>T (p.His307Leu) c.938A>T (p.His313Leu) c.*779A>T (n.*779A>T) c.998A>T (p.His333Leu) | |
1 | g.7663558C>A | CA338122559 | CAMTA1 | c.1011C>A (p.His337Gln) c.*862C>A (n.*862C>A) c.921C>A (p.His307Gln) c.939C>A (p.His313Gln) c.*780C>A (n.*780C>A) c.999C>A (p.His333Gln) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.7663558C>G | CA338122563 | CAMTA1 | c.1011C>G (p.His337Gln) c.*862C>G (n.*862C>G) c.921C>G (p.His307Gln) c.939C>G (p.His313Gln) c.*780C>G (n.*780C>G) c.999C>G (p.His333Gln) | |
1 | g.7663558C>T | CA416026435 | CAMTA1 | c.1011C>T (p.His337=) c.*862C>T (n.*862C>T) c.921C>T (p.His307=) c.939C>T (p.His313=) c.*780C>T (n.*780C>T) c.999C>T (p.His333=) | |
1 | g.7663559C>A | CA338122572 | CAMTA1 | c.1012C>A (p.Gln338Lys) c.*863C>A (n.*863C>A) c.922C>A (p.Gln308Lys) c.940C>A (p.Gln314Lys) c.*781C>A (n.*781C>A) c.1000C>A (p.Gln334Lys) | |
1 | g.7663559C>G | CA338122573 | CAMTA1 | c.1012C>G (p.Gln338Glu) c.*863C>G (n.*863C>G) c.922C>G (p.Gln308Glu) c.940C>G (p.Gln314Glu) c.*781C>G (n.*781C>G) c.1000C>G (p.Gln334Glu) | |
1 | g.7663559C>T | CA338122568 | CAMTA1 | c.1012C>T (p.Gln338Ter) c.*863C>T (n.*863C>T) c.922C>T (p.Gln308Ter) c.940C>T (p.Gln314Ter) c.*781C>T (n.*781C>T) c.1000C>T (p.Gln334Ter) | |
1 | g.7663560A>C | CA338122574 | CAMTA1 | c.1013A>C (p.Gln338Pro) c.*864A>C (n.*864A>C) c.923A>C (p.Gln308Pro) c.941A>C (p.Gln314Pro) c.*782A>C (n.*782A>C) c.1001A>C (p.Gln334Pro) | |
1 | g.7663560A>G | CA338122575 | CAMTA1 | c.1013A>G (p.Gln338Arg) c.*864A>G (n.*864A>G) c.923A>G (p.Gln308Arg) c.941A>G (p.Gln314Arg) c.*782A>G (n.*782A>G) c.1001A>G (p.Gln334Arg) | |
1 | g.7663560A>T | CA338122576 | CAMTA1 | c.1013A>T (p.Gln338Leu) c.*864A>T (n.*864A>T) c.923A>T (p.Gln308Leu) c.941A>T (p.Gln314Leu) c.*782A>T (n.*782A>T) c.1001A>T (p.Gln334Leu) | |
1 | g.7663561G>A | CA416026436 | CAMTA1 | c.1014G>A (p.Gln338=) c.*865G>A (n.*865G>A) c.924G>A (p.Gln308=) c.942G>A (p.Gln314=) c.*783G>A (n.*783G>A) c.1002G>A (p.Gln334=) | |
1 | g.7663561G>C | CA338122577 | CAMTA1 | c.1014G>C (p.Gln338His) c.*865G>C (n.*865G>C) c.924G>C (p.Gln308His) c.942G>C (p.Gln314His) c.*783G>C (n.*783G>C) c.1002G>C (p.Gln334His) | dbSNP |
1 | g.7663561G= | CA1152023664 | CAMTA1 | c.1014G= (p.Gln338=) c.*865G= (n.*865G=) c.924G= (p.Gln308=) c.942G= (p.Gln314=) c.*783G= (n.*783G=) c.1002G= (p.Gln334=) | |
1 | g.7663561G>T | CA338122578 | CAMTA1 | c.1014G>T (p.Gln338His) c.*865G>T (n.*865G>T) c.924G>T (p.Gln308His) c.942G>T (p.Gln314His) c.*783G>T (n.*783G>T) c.1002G>T (p.Gln334His) | |
1 | g.7663562A= | CA1152023665 | CAMTA1 | c.1015A= (p.Ser339=) c.*866A= (n.*866A=) c.925A= (p.Ser309=) c.943A= (p.Ser315=) c.*784A= (n.*784A=) c.1003A= (p.Ser335=) | |
1 | g.7663562A>C | CA338122582 | CAMTA1 | c.1015A>C (p.Ser339Arg) c.*866A>C (n.*866A>C) c.925A>C (p.Ser309Arg) c.943A>C (p.Ser315Arg) c.*784A>C (n.*784A>C) c.1003A>C (p.Ser335Arg) | |
1 | g.7663562A>G | CA566352 | CAMTA1 | c.1015A>G (p.Ser339Gly) c.*866A>G (n.*866A>G) c.925A>G (p.Ser309Gly) c.943A>G (p.Ser315Gly) c.*784A>G (n.*784A>G) c.1003A>G (p.Ser335Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663562A>T | CA338122580 | CAMTA1 | c.1015A>T (p.Ser339Cys) c.*866A>T (n.*866A>T) c.925A>T (p.Ser309Cys) c.943A>T (p.Ser315Cys) c.*784A>T (n.*784A>T) c.1003A>T (p.Ser335Cys) | |
1 | g.7663563G>A | CA566354 | CAMTA1 | c.1016G>A (p.Ser339Asn) c.*867G>A (n.*867G>A) c.926G>A (p.Ser309Asn) c.944G>A (p.Ser315Asn) c.*785G>A (n.*785G>A) c.1004G>A (p.Ser335Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663563G>C | CA566353 | CAMTA1 | c.1016G>C (p.Ser339Thr) c.*867G>C (n.*867G>C) c.926G>C (p.Ser309Thr) c.944G>C (p.Ser315Thr) c.*785G>C (n.*785G>C) c.1004G>C (p.Ser335Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663563G= | CA1152023666 | CAMTA1 | c.1016G= (p.Ser339=) c.*867G= (n.*867G=) c.926G= (p.Ser309=) c.944G= (p.Ser315=) c.*785G= (n.*785G=) c.1004G= (p.Ser335=) | |
1 | g.7663563G>T | CA338122585 | CAMTA1 | c.1016G>T (p.Ser339Ile) c.*867G>T (n.*867G>T) c.926G>T (p.Ser309Ile) c.944G>T (p.Ser315Ile) c.*785G>T (n.*785G>T) c.1004G>T (p.Ser335Ile) | |
1 | g.7663564C>A | CA338122587 | CAMTA1 | c.1017C>A (p.Ser339Arg) c.*868C>A (n.*868C>A) c.927C>A (p.Ser309Arg) c.945C>A (p.Ser315Arg) c.*786C>A (n.*786C>A) c.1005C>A (p.Ser335Arg) | |
1 | g.7663564C>G | CA338122590 | CAMTA1 | c.1017C>G (p.Ser339Arg) c.*868C>G (n.*868C>G) c.927C>G (p.Ser309Arg) c.945C>G (p.Ser315Arg) c.*786C>G (n.*786C>G) c.1005C>G (p.Ser335Arg) | |
1 | g.7663564C>T | CA416026437 | CAMTA1 | c.1017C>T (p.Ser339=) c.*868C>T (n.*868C>T) c.927C>T (p.Ser309=) c.945C>T (p.Ser315=) c.*786C>T (n.*786C>T) c.1005C>T (p.Ser335=) | |
1 | g.7663565A>C | CA338122595 | CAMTA1 | c.1018A>C (p.Ser340Arg) c.*869A>C (n.*869A>C) c.928A>C (p.Ser310Arg) c.946A>C (p.Ser316Arg) c.*787A>C (n.*787A>C) c.1006A>C (p.Ser336Arg) | |
1 | g.7663565A>G | CA338122594 | CAMTA1 | c.1018A>G (p.Ser340Gly) c.*869A>G (n.*869A>G) c.928A>G (p.Ser310Gly) c.946A>G (p.Ser316Gly) c.*787A>G (n.*787A>G) c.1006A>G (p.Ser336Gly) | |
1 | g.7663565A>T | CA338122592 | CAMTA1 | c.1018A>T (p.Ser340Cys) c.*869A>T (n.*869A>T) c.928A>T (p.Ser310Cys) c.946A>T (p.Ser316Cys) c.*787A>T (n.*787A>T) c.1006A>T (p.Ser336Cys) | |
1 | g.7663566G>A | CA338122600 | CAMTA1 | c.1019G>A (p.Ser340Asn) c.*870G>A (n.*870G>A) c.929G>A (p.Ser310Asn) c.947G>A (p.Ser316Asn) c.*788G>A (n.*788G>A) c.1007G>A (p.Ser336Asn) | |
1 | g.7663566G>C | CA338122605 | CAMTA1 | c.1019G>C (p.Ser340Thr) c.*870G>C (n.*870G>C) c.929G>C (p.Ser310Thr) c.947G>C (p.Ser316Thr) c.*788G>C (n.*788G>C) c.1007G>C (p.Ser336Thr) | |
1 | g.7663566G>T | CA338122607 | CAMTA1 | c.1019G>T (p.Ser340Ile) c.*870G>T (n.*870G>T) c.929G>T (p.Ser310Ile) c.947G>T (p.Ser316Ile) c.*788G>T (n.*788G>T) c.1007G>T (p.Ser336Ile) | |
1 | g.7663567C>A | CA338122610 | CAMTA1 | c.1020C>A (p.Ser340Arg) c.*871C>A (n.*871C>A) c.930C>A (p.Ser310Arg) c.948C>A (p.Ser316Arg) c.*789C>A (n.*789C>A) c.1008C>A (p.Ser336Arg) | |
1 | g.7663567C>G | CA338122613 | CAMTA1 | c.1020C>G (p.Ser340Arg) c.*871C>G (n.*871C>G) c.930C>G (p.Ser310Arg) c.948C>G (p.Ser316Arg) c.*789C>G (n.*789C>G) c.1008C>G (p.Ser336Arg) | |
1 | g.7663567C>T | CA416026438 | CAMTA1 | c.1020C>T (p.Ser340=) c.*871C>T (n.*871C>T) c.930C>T (p.Ser310=) c.948C>T (p.Ser316=) c.*789C>T (n.*789C>T) c.1008C>T (p.Ser336=) | |
1 | g.7663568A>C | CA338122615 | CAMTA1 | c.1021A>C (p.Thr341Pro) c.*872A>C (n.*872A>C) c.931A>C (p.Thr311Pro) c.949A>C (p.Thr317Pro) c.*790A>C (n.*790A>C) c.1009A>C (p.Thr337Pro) | |
1 | g.7663568A>G | CA338122621 | CAMTA1 | c.1021A>G (p.Thr341Ala) c.*872A>G (n.*872A>G) c.931A>G (p.Thr311Ala) c.949A>G (p.Thr317Ala) c.*790A>G (n.*790A>G) c.1009A>G (p.Thr337Ala) | |
1 | g.7663568A>T | CA338122622 | CAMTA1 | c.1021A>T (p.Thr341Ser) c.*872A>T (n.*872A>T) c.931A>T (p.Thr311Ser) c.949A>T (p.Thr317Ser) c.*790A>T (n.*790A>T) c.1009A>T (p.Thr337Ser) | |
1 | g.7663569C>A | CA338122624 | CAMTA1 | c.1022C>A (p.Thr341Asn) c.*873C>A (n.*873C>A) c.932C>A (p.Thr311Asn) c.950C>A (p.Thr317Asn) c.*791C>A (n.*791C>A) c.1010C>A (p.Thr337Asn) | gnomAD v4 |
1 | g.7663569C>G | CA338122627 | CAMTA1 | c.1022C>G (p.Thr341Ser) c.*873C>G (n.*873C>G) c.932C>G (p.Thr311Ser) c.950C>G (p.Thr317Ser) c.*791C>G (n.*791C>G) c.1010C>G (p.Thr337Ser) | |
1 | g.7663569C>T | CA338122626 | CAMTA1 | c.1022C>T (p.Thr341Ile) c.*873C>T (n.*873C>T) c.932C>T (p.Thr311Ile) c.950C>T (p.Thr317Ile) c.*791C>T (n.*791C>T) c.1010C>T (p.Thr337Ile) | |
1 | g.7663570C>A | CA416026440 | CAMTA1 | c.1023C>A (p.Thr341=) c.*874C>A (n.*874C>A) c.933C>A (p.Thr311=) c.951C>A (p.Thr317=) c.*792C>A (n.*792C>A) c.1011C>A (p.Thr337=) | |
1 | g.7663570C= | CA1152023667 | CAMTA1 | c.1023C= (p.Thr341=) c.*874C= (n.*874C=) c.933C= (p.Thr311=) c.951C= (p.Thr317=) c.*792C= (n.*792C=) c.1011C= (p.Thr337=) | |
1 | g.7663570C>G | CA416026439 | CAMTA1 | c.1023C>G (p.Thr341=) c.*874C>G (n.*874C>G) c.933C>G (p.Thr311=) c.951C>G (p.Thr317=) c.*792C>G (n.*792C>G) c.1011C>G (p.Thr337=) | |
1 | g.7663570C>T | CA566355 | CAMTA1 | c.1023C>T (p.Thr341=) c.*874C>T (n.*874C>T) c.933C>T (p.Thr311=) c.951C>T (p.Thr317=) c.*792C>T (n.*792C>T) c.1011C>T (p.Thr337=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.7663571G>A | CA338122631 | CAMTA1 | c.1024G>A (p.Glu342Lys) c.*875G>A (n.*875G>A) c.934G>A (p.Glu312Lys) c.952G>A (p.Glu318Lys) c.*793G>A (n.*793G>A) c.1012G>A (p.Glu338Lys) | ClinVar dbSNP gnomAD v4 |
1 | g.7663571G>C | CA338122634 | CAMTA1 | c.1024G>C (p.Glu342Gln) c.*875G>C (n.*875G>C) c.934G>C (p.Glu312Gln) c.952G>C (p.Glu318Gln) c.*793G>C (n.*793G>C) c.1012G>C (p.Glu338Gln) | |
1 | g.7663571G= | CA1152023668 | CAMTA1 | c.1024G= (p.Glu342=) c.*875G= (n.*875G=) c.934G= (p.Glu312=) c.952G= (p.Glu318=) c.*793G= (n.*793G=) c.1012G= (p.Glu338=) | |
1 | g.7663571G>T | CA338122637 | CAMTA1 | c.1024G>T (p.Glu342Ter) c.*875G>T (n.*875G>T) c.934G>T (p.Glu312Ter) c.952G>T (p.Glu318Ter) c.*793G>T (n.*793G>T) c.1012G>T (p.Glu338Ter) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.7663572A>C | CA338122640 | CAMTA1 | c.1025A>C (p.Glu342Ala) c.*876A>C (n.*876A>C) c.935A>C (p.Glu312Ala) c.953A>C (p.Glu318Ala) c.*794A>C (n.*794A>C) c.1013A>C (p.Glu338Ala) | |
1 | g.7663572A>G | CA338122646 | CAMTA1 | c.1025A>G (p.Glu342Gly) c.*876A>G (n.*876A>G) c.935A>G (p.Glu312Gly) c.953A>G (p.Glu318Gly) c.*794A>G (n.*794A>G) c.1013A>G (p.Glu338Gly) | |
1 | g.7663572A>T | CA338122644 | CAMTA1 | c.1025A>T (p.Glu342Val) c.*876A>T (n.*876A>T) c.935A>T (p.Glu312Val) c.953A>T (p.Glu318Val) c.*794A>T (n.*794A>T) c.1013A>T (p.Glu338Val) | |
1 | g.7663573G>A | CA566356 | CAMTA1 | c.1026G>A (p.Glu342=) c.*877G>A (n.*877G>A) c.936G>A (p.Glu312=) c.954G>A (p.Glu318=) c.*795G>A (n.*795G>A) c.1014G>A (p.Glu338=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663573G>C | CA338122658 | CAMTA1 | c.1026G>C (p.Glu342Asp) c.*877G>C (n.*877G>C) c.936G>C (p.Glu312Asp) c.954G>C (p.Glu318Asp) c.*795G>C (n.*795G>C) c.1014G>C (p.Glu338Asp) | |
1 | g.7663573G= | CA1152023669 | CAMTA1 | c.1026G= (p.Glu342=) c.*877G= (n.*877G=) c.936G= (p.Glu312=) c.954G= (p.Glu318=) c.*795G= (n.*795G=) c.1014G= (p.Glu338=) | |
1 | g.7663573G>T | CA338122663 | CAMTA1 | c.1026G>T (p.Glu342Asp) c.*877G>T (n.*877G>T) c.936G>T (p.Glu312Asp) c.954G>T (p.Glu318Asp) c.*795G>T (n.*795G>T) c.1014G>T (p.Glu338Asp) | |
1 | g.7663574G>A | CA338122665 | CAMTA1 | c.1027G>A (p.Val343Ile) c.*878G>A (n.*878G>A) c.937G>A (p.Val313Ile) c.955G>A (p.Val319Ile) c.*796G>A (n.*796G>A) c.1015G>A (p.Val339Ile) | gnomAD v4 |
1 | g.7663574G>C | CA338122668 | CAMTA1 | c.1027G>C (p.Val343Leu) c.*878G>C (n.*878G>C) c.937G>C (p.Val313Leu) c.955G>C (p.Val319Leu) c.*796G>C (n.*796G>C) c.1015G>C (p.Val339Leu) | |
1 | g.7663574G>T | CA338122671 | CAMTA1 | c.1027G>T (p.Val343Phe) c.*878G>T (n.*878G>T) c.937G>T (p.Val313Phe) c.955G>T (p.Val319Phe) c.*796G>T (n.*796G>T) c.1015G>T (p.Val339Phe) | |
1 | g.7663575T>A | CA338122675 | CAMTA1 | c.1028T>A (p.Val343Asp) c.*879T>A (n.*879T>A) c.938T>A (p.Val313Asp) c.956T>A (p.Val319Asp) c.*797T>A (n.*797T>A) c.1016T>A (p.Val339Asp) | |
1 | g.7663575T>C | CA338122677 | CAMTA1 | c.1028T>C (p.Val343Ala) c.*879T>C (n.*879T>C) c.938T>C (p.Val313Ala) c.956T>C (p.Val319Ala) c.*797T>C (n.*797T>C) c.1016T>C (p.Val339Ala) | |
1 | g.7663575T>G | CA338122678 | CAMTA1 | c.1028T>G (p.Val343Gly) c.*879T>G (n.*879T>G) c.938T>G (p.Val313Gly) c.956T>G (p.Val319Gly) c.*797T>G (n.*797T>G) c.1016T>G (p.Val339Gly) | |
1 | g.7663576C>A | CA416026441 | CAMTA1 | c.1029C>A (p.Val343=) c.*880C>A (n.*880C>A) c.939C>A (p.Val313=) c.957C>A (p.Val319=) c.*798C>A (n.*798C>A) c.1017C>A (p.Val339=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.7663576C= | CA1152023670 | CAMTA1 | c.1029C= (p.Val343=) c.*880C= (n.*880C=) c.939C= (p.Val313=) c.957C= (p.Val319=) c.*798C= (n.*798C=) c.1017C= (p.Val339=) | |
1 | g.7663576C>G | CA416026442 | CAMTA1 | c.1029C>G (p.Val343=) c.*880C>G (n.*880C>G) c.939C>G (p.Val313=) c.957C>G (p.Val319=) c.*798C>G (n.*798C>G) c.1017C>G (p.Val339=) | |
1 | g.7663576C>T | CA416026443 | CAMTA1 | c.1029C>T (p.Val343=) c.*880C>T (n.*880C>T) c.939C>T (p.Val313=) c.957C>T (p.Val319=) c.*798C>T (n.*798C>T) c.1017C>T (p.Val339=) | |
1 | g.7663577T>A | CA338122680 | CAMTA1 | c.1030T>A (p.Ser344Thr) c.*881T>A (n.*881T>A) c.940T>A (p.Ser314Thr) c.958T>A (p.Ser320Thr) c.*799T>A (n.*799T>A) c.1018T>A (p.Ser340Thr) | |
1 | g.7663577T>C | CA338122681 | CAMTA1 | c.1030T>C (p.Ser344Pro) c.*881T>C (n.*881T>C) c.940T>C (p.Ser314Pro) c.958T>C (p.Ser320Pro) c.*799T>C (n.*799T>C) c.1018T>C (p.Ser340Pro) | |
1 | g.7663577T>G | CA338122683 | CAMTA1 | c.1030T>G (p.Ser344Ala) c.*881T>G (n.*881T>G) c.940T>G (p.Ser314Ala) c.958T>G (p.Ser320Ala) c.*799T>G (n.*799T>G) c.1018T>G (p.Ser340Ala) | |
1 | g.7663578C>A | CA338122688 | CAMTA1 | c.1031C>A (p.Ser344Tyr) c.*882C>A (n.*882C>A) c.941C>A (p.Ser314Tyr) c.959C>A (p.Ser320Tyr) c.*800C>A (n.*800C>A) c.1019C>A (p.Ser340Tyr) | |
1 | g.7663578C>G | CA338122692 | CAMTA1 | c.1031C>G (p.Ser344Cys) c.*882C>G (n.*882C>G) c.941C>G (p.Ser314Cys) c.959C>G (p.Ser320Cys) c.*800C>G (n.*800C>G) c.1019C>G (p.Ser340Cys) | |
1 | g.7663578C>T | CA338122690 | CAMTA1 | c.1031C>T (p.Ser344Phe) c.*882C>T (n.*882C>T) c.941C>T (p.Ser314Phe) c.959C>T (p.Ser320Phe) c.*800C>T (n.*800C>T) c.1019C>T (p.Ser340Phe) | |
1 | g.7663579C>A | CA416026444 | CAMTA1 | c.1032C>A (p.Ser344=) c.*883C>A (n.*883C>A) c.942C>A (p.Ser314=) c.960C>A (p.Ser320=) c.*801C>A (n.*801C>A) c.1020C>A (p.Ser340=) | gnomAD v4 |
1 | g.7663579C= | CA1152023671 | CAMTA1 | c.1032C= (p.Ser344=) c.*883C= (n.*883C=) c.942C= (p.Ser314=) c.960C= (p.Ser320=) c.*801C= (n.*801C=) c.1020C= (p.Ser340=) | |
1 | g.7663579C>G | CA416026445 | CAMTA1 | c.1032C>G (p.Ser344=) c.*883C>G (n.*883C>G) c.942C>G (p.Ser314=) c.960C>G (p.Ser320=) c.*801C>G (n.*801C>G) c.1020C>G (p.Ser340=) | |
1 | g.7663579C>T | CA566357 | CAMTA1 | c.1032C>T (p.Ser344=) c.*883C>T (n.*883C>T) c.942C>T (p.Ser314=) c.960C>T (p.Ser320=) c.*801C>T (n.*801C>T) c.1020C>T (p.Ser340=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663580T>A | CA338122696 | CAMTA1 | c.1033T>A (p.Ser345Thr) c.*884T>A (n.*884T>A) c.943T>A (p.Ser315Thr) c.961T>A (p.Ser321Thr) c.*802T>A (n.*802T>A) c.1021T>A (p.Ser341Thr) | |
1 | g.7663580T>C | CA338122699 | CAMTA1 | c.1033T>C (p.Ser345Pro) c.*884T>C (n.*884T>C) c.943T>C (p.Ser315Pro) c.961T>C (p.Ser321Pro) c.*802T>C (n.*802T>C) c.1021T>C (p.Ser341Pro) | |
1 | g.7663580T>G | CA338122700 | CAMTA1 | c.1033T>G (p.Ser345Ala) c.*884T>G (n.*884T>G) c.943T>G (p.Ser315Ala) c.961T>G (p.Ser321Ala) c.*802T>G (n.*802T>G) c.1021T>G (p.Ser341Ala) |