| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.7663430G>A | CA338121732 | CAMTA1 | c.883G>A (p.Gly295Arg) c.*734G>A (n.*734G>A) c.793G>A (p.Gly265Arg) c.811G>A (p.Gly271Arg) c.*652G>A (n.*652G>A) c.871G>A (p.Gly291Arg) | ClinVar gnomAD v4 |
| 1 | g.7663430G>C | CA17243861 | CAMTA1 | c.883G>C (p.Gly295Arg) c.*734G>C (n.*734G>C) c.793G>C (p.Gly265Arg) c.811G>C (p.Gly271Arg) c.*652G>C (n.*652G>C) c.871G>C (p.Gly291Arg) | ClinVar dbSNP gnomAD v4 |
| 1 | g.7663430G= | CA1152023614 | CAMTA1 | c.883G= (p.Gly295=) c.*734G= (n.*734G=) c.793G= (p.Gly265=) c.811G= (p.Gly271=) c.*652G= (n.*652G=) c.871G= (p.Gly291=) | |
| 1 | g.7663430G>T | CA338121737 | CAMTA1 | c.883G>T (p.Gly295Trp) c.*734G>T (n.*734G>T) c.793G>T (p.Gly265Trp) c.811G>T (p.Gly271Trp) c.*652G>T (n.*652G>T) c.871G>T (p.Gly291Trp) | |
| 1 | g.7663435dup | CA2643031704 | CAMTA1 | c.888dup (p.Tyr297ValfsTer11) c.*739dup (n.*739dup) c.798dup (p.Tyr267ValfsTer11) c.816dup (p.Tyr273ValfsTer11) c.*657dup (n.*657dup) c.876dup (p.Tyr293ValfsTer11) | gnomAD v4 |
| 1 | g.7663435del | CA416026370 | CAMTA1 | c.888del (p.Tyr297ThrfsTer?) c.*739del (n.*739del) c.798del (p.Tyr267ThrfsTer?) c.816del (p.Tyr273ThrfsTer?) c.*657del (n.*657del) c.876del (p.Tyr293ThrfsTer?) | gnomAD v4 COSMIC |
| 1 | g.7663431G>A | CA17243868 | CAMTA1 | c.884G>A (p.Gly295Glu) c.*735G>A (n.*735G>A) c.794G>A (p.Gly265Glu) c.812G>A (p.Gly271Glu) c.*653G>A (n.*653G>A) c.872G>A (p.Gly291Glu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.7663431G>C | CA566315 | CAMTA1 | c.884G>C (p.Gly295Ala) c.*735G>C (n.*735G>C) c.794G>C (p.Gly265Ala) c.812G>C (p.Gly271Ala) c.*653G>C (n.*653G>C) c.872G>C (p.Gly291Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7663431G= | CA1152023615 | CAMTA1 | c.884G= (p.Gly295=) c.*735G= (n.*735G=) c.794G= (p.Gly265=) c.812G= (p.Gly271=) c.*653G= (n.*653G=) c.872G= (p.Gly291=) | |
| 1 | g.7663431G>T | CA338121745 | CAMTA1 | c.884G>T (p.Gly295Val) c.*735G>T (n.*735G>T) c.794G>T (p.Gly265Val) c.812G>T (p.Gly271Val) c.*653G>T (n.*653G>T) c.872G>T (p.Gly291Val) | dbSNP gnomAD v4 |
| 1 | g.7663432G>A | CA416026371 | CAMTA1 | c.885G>A (p.Gly295=) c.*736G>A (n.*736G>A) c.795G>A (p.Gly265=) c.813G>A (p.Gly271=) c.*654G>A (n.*654G>A) c.873G>A (p.Gly291=) | gnomAD v4 |
| 1 | g.7663432G>C | CA416026372 | CAMTA1 | c.885G>C (p.Gly295=) c.*736G>C (n.*736G>C) c.795G>C (p.Gly265=) c.813G>C (p.Gly271=) c.*654G>C (n.*654G>C) c.873G>C (p.Gly291=) | |
| 1 | g.7663432G= | CA1152023616 | CAMTA1 | c.885G= (p.Gly295=) c.*736G= (n.*736G=) c.795G= (p.Gly265=) c.813G= (p.Gly271=) c.*654G= (n.*654G=) c.873G= (p.Gly291=) | |
| 1 | g.7663432G>T | CA416026373 | CAMTA1 | c.885G>T (p.Gly295=) c.*736G>T (n.*736G>T) c.795G>T (p.Gly265=) c.813G>T (p.Gly271=) c.*654G>T (n.*654G>T) c.873G>T (p.Gly291=) | dbSNP gnomAD v4 |
| 1 | g.7663433G>A | CA338121750 | CAMTA1 | c.886G>A (p.Gly296Arg) c.*737G>A (n.*737G>A) c.796G>A (p.Gly266Arg) c.814G>A (p.Gly272Arg) c.*655G>A (n.*655G>A) c.874G>A (p.Gly292Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.7663433G>C | CA338121752 | CAMTA1 | c.886G>C (p.Gly296Arg) c.*737G>C (n.*737G>C) c.796G>C (p.Gly266Arg) c.814G>C (p.Gly272Arg) c.*655G>C (n.*655G>C) c.874G>C (p.Gly292Arg) | |
| 1 | g.7663433G= | CA1152023617 | CAMTA1 | c.886G= (p.Gly296=) c.*737G= (n.*737G=) c.796G= (p.Gly266=) c.814G= (p.Gly272=) c.*655G= (n.*655G=) c.874G= (p.Gly292=) | |
| 1 | g.7663433G>T | CA338121754 | CAMTA1 | c.886G>T (p.Gly296Trp) c.*737G>T (n.*737G>T) c.796G>T (p.Gly266Trp) c.814G>T (p.Gly272Trp) c.*655G>T (n.*655G>T) c.874G>T (p.Gly292Trp) | dbSNP gnomAD v4 |
| 1 | g.7663434G>A | CA338121760 | CAMTA1 | c.887G>A (p.Gly296Glu) c.*738G>A (n.*738G>A) c.797G>A (p.Gly266Glu) c.815G>A (p.Gly272Glu) c.*656G>A (n.*656G>A) c.875G>A (p.Gly292Glu) | gnomAD v4 COSMIC COSMIC |
| 1 | g.7663434G>C | CA566316 | CAMTA1 | c.887G>C (p.Gly296Ala) c.*738G>C (n.*738G>C) c.797G>C (p.Gly266Ala) c.815G>C (p.Gly272Ala) c.*656G>C (n.*656G>C) c.875G>C (p.Gly292Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.7663434G= | CA1152023618 | CAMTA1 | c.887G= (p.Gly296=) c.*738G= (n.*738G=) c.797G= (p.Gly266=) c.815G= (p.Gly272=) c.*656G= (n.*656G=) c.875G= (p.Gly292=) | |
| 1 | g.7663434G>T | CA338121758 | CAMTA1 | c.887G>T (p.Gly296Val) c.*738G>T (n.*738G>T) c.797G>T (p.Gly266Val) c.815G>T (p.Gly272Val) c.*656G>T (n.*656G>T) c.875G>T (p.Gly292Val) | gnomAD v4 |
| 1 | g.7663435G>A | CA566317 | CAMTA1 | c.888G>A (p.Gly296=) c.*739G>A (n.*739G>A) c.798G>A (p.Gly266=) c.816G>A (p.Gly272=) c.*657G>A (n.*657G>A) c.876G>A (p.Gly292=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7663435G>C | CA416026374 | CAMTA1 | c.888G>C (p.Gly296=) c.*739G>C (n.*739G>C) c.798G>C (p.Gly266=) c.816G>C (p.Gly272=) c.*657G>C (n.*657G>C) c.876G>C (p.Gly292=) | gnomAD v4 |
| 1 | g.7663435G= | CA1152023619 | CAMTA1 | c.888G= (p.Gly296=) c.*739G= (n.*739G=) c.798G= (p.Gly266=) c.816G= (p.Gly272=) c.*657G= (n.*657G=) c.876G= (p.Gly292=) | |
| 1 | g.7663435G>T | CA416026375 | CAMTA1 | c.888G>T (p.Gly296=) c.*739G>T (n.*739G>T) c.798G>T (p.Gly266=) c.816G>T (p.Gly272=) c.*657G>T (n.*657G>T) c.876G>T (p.Gly292=) | gnomAD v4 |
| 1 | g.7663436T>A | CA338121768 | CAMTA1 | c.889T>A (p.Tyr297Asn) c.*740T>A (n.*740T>A) c.799T>A (p.Tyr267Asn) c.817T>A (p.Tyr273Asn) c.*658T>A (n.*658T>A) c.877T>A (p.Tyr293Asn) | |
| 1 | g.7663436T>C | CA338121772 | CAMTA1 | c.889T>C (p.Tyr297His) c.*740T>C (n.*740T>C) c.799T>C (p.Tyr267His) c.817T>C (p.Tyr273His) c.*658T>C (n.*658T>C) c.877T>C (p.Tyr293His) | gnomAD v4 |
| 1 | g.7663436T>G | CA338121770 | CAMTA1 | c.889T>G (p.Tyr297Asp) c.*740T>G (n.*740T>G) c.799T>G (p.Tyr267Asp) c.817T>G (p.Tyr273Asp) c.*658T>G (n.*658T>G) c.877T>G (p.Tyr293Asp) | |
| 1 | g.7663437A= | CA1152023620 | CAMTA1 | c.890A= (p.Tyr297=) c.*741A= (n.*741A=) c.800A= (p.Tyr267=) c.818A= (p.Tyr273=) c.*659A= (n.*659A=) c.878A= (p.Tyr293=) | |
| 1 | g.7663437A>C | CA338121774 | CAMTA1 | c.890A>C (p.Tyr297Ser) c.*741A>C (n.*741A>C) c.800A>C (p.Tyr267Ser) c.818A>C (p.Tyr273Ser) c.*659A>C (n.*659A>C) c.878A>C (p.Tyr293Ser) | |
| 1 | g.7663437A>G | CA566318 | CAMTA1 | c.890A>G (p.Tyr297Cys) c.*741A>G (n.*741A>G) c.800A>G (p.Tyr267Cys) c.818A>G (p.Tyr273Cys) c.*659A>G (n.*659A>G) c.878A>G (p.Tyr293Cys) | dbSNP ExAC |
| 1 | g.7663437A>T | CA338121776 | CAMTA1 | c.890A>T (p.Tyr297Phe) c.*741A>T (n.*741A>T) c.800A>T (p.Tyr267Phe) c.818A>T (p.Tyr273Phe) c.*659A>T (n.*659A>T) c.878A>T (p.Tyr293Phe) | |
| 1 | g.7663438C>A | CA338121781 | CAMTA1 | c.891C>A (p.Tyr297Ter) c.*742C>A (n.*742C>A) c.801C>A (p.Tyr267Ter) c.819C>A (p.Tyr273Ter) c.*660C>A (n.*660C>A) c.879C>A (p.Tyr293Ter) | gnomAD v4 |
| 1 | g.7663438C= | CA1152023621 | CAMTA1 | c.891C= (p.Tyr297=) c.*742C= (n.*742C=) c.801C= (p.Tyr267=) c.819C= (p.Tyr273=) c.*660C= (n.*660C=) c.879C= (p.Tyr293=) | |
| 1 | g.7663438C>G | CA566319 | CAMTA1 | c.891C>G (p.Tyr297Ter) c.*742C>G (n.*742C>G) c.801C>G (p.Tyr267Ter) c.819C>G (p.Tyr273Ter) c.*660C>G (n.*660C>G) c.879C>G (p.Tyr293Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.7663438C>T | CA566320 | CAMTA1 | c.891C>T (p.Tyr297=) c.*742C>T (n.*742C>T) c.801C>T (p.Tyr267=) c.819C>T (p.Tyr273=) c.*660C>T (n.*660C>T) c.879C>T (p.Tyr293=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7663439G>A | CA566321 | CAMTA1 | c.892G>A (p.Gly298Arg) c.*743G>A (n.*743G>A) c.802G>A (p.Gly268Arg) c.820G>A (p.Gly274Arg) c.*661G>A (n.*661G>A) c.880G>A (p.Gly294Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.7663439G>C | CA338121783 | CAMTA1 | c.892G>C (p.Gly298Arg) c.*743G>C (n.*743G>C) c.802G>C (p.Gly268Arg) c.820G>C (p.Gly274Arg) c.*661G>C (n.*661G>C) c.880G>C (p.Gly294Arg) | |
| 1 | g.7663439G= | CA1152023622 | CAMTA1 | c.892G= (p.Gly298=) c.*743G= (n.*743G=) c.802G= (p.Gly268=) c.820G= (p.Gly274=) c.*661G= (n.*661G=) c.880G= (p.Gly294=) | |
| 1 | g.7663439G>T | CA338121784 | CAMTA1 | c.892G>T (p.Gly298Trp) c.*743G>T (n.*743G>T) c.802G>T (p.Gly268Trp) c.820G>T (p.Gly274Trp) c.*661G>T (n.*661G>T) c.880G>T (p.Gly294Trp) | gnomAD v4 |
| 1 | g.7663440G>A | CA16603758 | CAMTA1 | c.893G>A (p.Gly298Glu) c.*744G>A (n.*744G>A) c.803G>A (p.Gly268Glu) c.821G>A (p.Gly274Glu) c.*662G>A (n.*662G>A) c.881G>A (p.Gly294Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.7663440G>C | CA338121788 | CAMTA1 | c.893G>C (p.Gly298Ala) c.*744G>C (n.*744G>C) c.803G>C (p.Gly268Ala) c.821G>C (p.Gly274Ala) c.*662G>C (n.*662G>C) c.881G>C (p.Gly294Ala) | |
| 1 | g.7663440G= | CA1152023623 | CAMTA1 | c.893G= (p.Gly298=) c.*744G= (n.*744G=) c.803G= (p.Gly268=) c.821G= (p.Gly274=) c.*662G= (n.*662G=) c.881G= (p.Gly294=) | |
| 1 | g.7663440G>T | CA338121791 | CAMTA1 | c.893G>T (p.Gly298Val) c.*744G>T (n.*744G>T) c.803G>T (p.Gly268Val) c.821G>T (p.Gly274Val) c.*662G>T (n.*662G>T) c.881G>T (p.Gly294Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.7663441G>A | CA566322 | CAMTA1 | c.894G>A (p.Gly298=) c.*745G>A (n.*745G>A) c.804G>A (p.Gly268=) c.822G>A (p.Gly274=) c.*663G>A (n.*663G>A) c.882G>A (p.Gly294=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.7663441G>C | CA416026377 | CAMTA1 | c.894G>C (p.Gly298=) c.*745G>C (n.*745G>C) c.804G>C (p.Gly268=) c.822G>C (p.Gly274=) c.*663G>C (n.*663G>C) c.882G>C (p.Gly294=) | COSMIC |
| 1 | g.7663441G= | CA1152023624 | CAMTA1 | c.894G= (p.Gly298=) c.*745G= (n.*745G=) c.804G= (p.Gly268=) c.822G= (p.Gly274=) c.*663G= (n.*663G=) c.882G= (p.Gly294=) | |
| 1 | g.7663441G>T | CA416026376 | CAMTA1 | c.894G>T (p.Gly298=) c.*745G>T (n.*745G>T) c.804G>T (p.Gly268=) c.822G>T (p.Gly274=) c.*663G>T (n.*663G>T) c.882G>T (p.Gly294=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.7663442A>C | CA338121794 | CAMTA1 | c.895A>C (p.Ser299Arg) c.*746A>C (n.*746A>C) c.805A>C (p.Ser269Arg) c.823A>C (p.Ser275Arg) c.*664A>C (n.*664A>C) c.883A>C (p.Ser295Arg) |