Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
1 | g.7663581C>A | CA338122702 | CAMTA1 | c.1034C>A (p.Ser345Tyr) c.*885C>A (n.*885C>A) c.944C>A (p.Ser315Tyr) c.962C>A (p.Ser321Tyr) c.*803C>A (n.*803C>A) c.1022C>A (p.Ser341Tyr) | |
1 | g.7663581C>G | CA338122708 | CAMTA1 | c.1034C>G (p.Ser345Cys) c.*885C>G (n.*885C>G) c.944C>G (p.Ser315Cys) c.962C>G (p.Ser321Cys) c.*803C>G (n.*803C>G) c.1022C>G (p.Ser341Cys) | |
1 | g.7663581C>T | CA338122711 | CAMTA1 | c.1034C>T (p.Ser345Phe) c.*885C>T (n.*885C>T) c.944C>T (p.Ser315Phe) c.962C>T (p.Ser321Phe) c.*803C>T (n.*803C>T) c.1022C>T (p.Ser341Phe) | |
1 | g.7663582C>A | CA416026446 | CAMTA1 | c.1035C>A (p.Ser345=) c.*886C>A (n.*886C>A) c.945C>A (p.Ser315=) c.963C>A (p.Ser321=) c.*804C>A (n.*804C>A) c.1023C>A (p.Ser341=) | |
1 | g.7663582C>G | CA416026447 | CAMTA1 | c.1035C>G (p.Ser345=) c.*886C>G (n.*886C>G) c.945C>G (p.Ser315=) c.963C>G (p.Ser321=) c.*804C>G (n.*804C>G) c.1023C>G (p.Ser341=) | |
1 | g.7663582C>T | CA416026448 | CAMTA1 | c.1035C>T (p.Ser345=) c.*886C>T (n.*886C>T) c.945C>T (p.Ser315=) c.963C>T (p.Ser321=) c.*804C>T (n.*804C>T) c.1023C>T (p.Ser341=) | gnomAD v4 COSMIC COSMIC |
1 | g.7663583A>C | CA338122713 | CAMTA1 | c.1036A>C (p.Thr346Pro) c.*887A>C (n.*887A>C) c.946A>C (p.Thr316Pro) c.964A>C (p.Thr322Pro) c.*805A>C (n.*805A>C) c.1024A>C (p.Thr342Pro) | |
1 | g.7663583A>G | CA338122714 | CAMTA1 | c.1036A>G (p.Thr346Ala) c.*887A>G (n.*887A>G) c.946A>G (p.Thr316Ala) c.964A>G (p.Thr322Ala) c.*805A>G (n.*805A>G) c.1024A>G (p.Thr342Ala) | |
1 | g.7663583A>T | CA338122716 | CAMTA1 | c.1036A>T (p.Thr346Ser) c.*887A>T (n.*887A>T) c.946A>T (p.Thr316Ser) c.964A>T (p.Thr322Ser) c.*805A>T (n.*805A>T) c.1024A>T (p.Thr342Ser) | |
1 | g.7663584C>A | CA338122718 | CAMTA1 | c.1037C>A (p.Thr346Asn) c.*888C>A (n.*888C>A) c.947C>A (p.Thr316Asn) c.965C>A (p.Thr322Asn) c.*806C>A (n.*806C>A) c.1025C>A (p.Thr342Asn) | |
1 | g.7663584C>G | CA338122721 | CAMTA1 | c.1037C>G (p.Thr346Ser) c.*888C>G (n.*888C>G) c.947C>G (p.Thr316Ser) c.965C>G (p.Thr322Ser) c.*806C>G (n.*806C>G) c.1025C>G (p.Thr342Ser) | |
1 | g.7663584C>T | CA338122722 | CAMTA1 | c.1037C>T (p.Thr346Ile) c.*888C>T (n.*888C>T) c.947C>T (p.Thr316Ile) c.965C>T (p.Thr322Ile) c.*806C>T (n.*806C>T) c.1025C>T (p.Thr342Ile) | |
1 | g.7663585C>A | CA416026449 | CAMTA1 | c.1038C>A (p.Thr346=) c.*889C>A (n.*889C>A) c.948C>A (p.Thr316=) c.966C>A (p.Thr322=) c.*807C>A (n.*807C>A) c.1026C>A (p.Thr342=) | |
1 | g.7663585C>G | CA416026450 | CAMTA1 | c.1038C>G (p.Thr346=) c.*889C>G (n.*889C>G) c.948C>G (p.Thr316=) c.966C>G (p.Thr322=) c.*807C>G (n.*807C>G) c.1026C>G (p.Thr342=) | |
1 | g.7663585C>T | CA416026451 | CAMTA1 | c.1038C>T (p.Thr346=) c.*889C>T (n.*889C>T) c.948C>T (p.Thr316=) c.966C>T (p.Thr322=) c.*807C>T (n.*807C>T) c.1026C>T (p.Thr342=) | |
1 | g.7663586A>C | CA338122729 | CAMTA1 | c.1039A>C (p.Asn347His) c.*890A>C (n.*890A>C) c.949A>C (p.Asn317His) c.967A>C (p.Asn323His) c.*808A>C (n.*808A>C) c.1027A>C (p.Asn343His) | |
1 | g.7663586A>G | CA338122725 | CAMTA1 | c.1039A>G (p.Asn347Asp) c.*890A>G (n.*890A>G) c.949A>G (p.Asn317Asp) c.967A>G (p.Asn323Asp) c.*808A>G (n.*808A>G) c.1027A>G (p.Asn343Asp) | gnomAD v4 |
1 | g.7663586A>T | CA338122726 | CAMTA1 | c.1039A>T (p.Asn347Tyr) c.*890A>T (n.*890A>T) c.949A>T (p.Asn317Tyr) c.967A>T (p.Asn323Tyr) c.*808A>T (n.*808A>T) c.1027A>T (p.Asn343Tyr) | |
1 | g.7663587A>C | CA338122733 | CAMTA1 | c.1040A>C (p.Asn347Thr) c.*891A>C (n.*891A>C) c.950A>C (p.Asn317Thr) c.968A>C (p.Asn323Thr) c.*809A>C (n.*809A>C) c.1028A>C (p.Asn343Thr) | |
1 | g.7663587A>G | CA338122737 | CAMTA1 | c.1040A>G (p.Asn347Ser) c.*891A>G (n.*891A>G) c.950A>G (p.Asn317Ser) c.968A>G (p.Asn323Ser) c.*809A>G (n.*809A>G) c.1028A>G (p.Asn343Ser) | |
1 | g.7663587A>T | CA338122739 | CAMTA1 | c.1040A>T (p.Asn347Ile) c.*891A>T (n.*891A>T) c.950A>T (p.Asn317Ile) c.968A>T (p.Asn323Ile) c.*809A>T (n.*809A>T) c.1028A>T (p.Asn343Ile) | |
1 | g.7663588C>A | CA338122741 | CAMTA1 | c.1041C>A (p.Asn347Lys) c.*892C>A (n.*892C>A) c.951C>A (p.Asn317Lys) c.969C>A (p.Asn323Lys) c.*810C>A (n.*810C>A) c.1029C>A (p.Asn343Lys) | |
1 | g.7663588C>G | CA338122743 | CAMTA1 | c.1041C>G (p.Asn347Lys) c.*892C>G (n.*892C>G) c.951C>G (p.Asn317Lys) c.969C>G (p.Asn323Lys) c.*810C>G (n.*810C>G) c.1029C>G (p.Asn343Lys) | |
1 | g.7663588C>T | CA416026452 | CAMTA1 | c.1041C>T (p.Asn347=) c.*892C>T (n.*892C>T) c.951C>T (p.Asn317=) c.969C>T (p.Asn323=) c.*810C>T (n.*810C>T) c.1029C>T (p.Asn343=) | |
1 | g.7663589C>A | CA338122747 | CAMTA1 | c.1042C>A (p.Gln348Lys) c.*893C>A (n.*893C>A) c.952C>A (p.Gln318Lys) c.970C>A (p.Gln324Lys) c.*811C>A (n.*811C>A) c.1030C>A (p.Gln344Lys) | |
1 | g.7663589C= | CA1152023672 | CAMTA1 | c.1042C= (p.Gln348=) c.*893C= (n.*893C=) c.952C= (p.Gln318=) c.970C= (p.Gln324=) c.*811C= (n.*811C=) c.1030C= (p.Gln344=) | |
1 | g.7663589C>G | CA338122752 | CAMTA1 | c.1042C>G (p.Gln348Glu) c.*893C>G (n.*893C>G) c.952C>G (p.Gln318Glu) c.970C>G (p.Gln324Glu) c.*811C>G (n.*811C>G) c.1030C>G (p.Gln344Glu) | |
1 | g.7663589C>T | CA17244059 | CAMTA1 | c.1042C>T (p.Gln348Ter) c.*893C>T (n.*893C>T) c.952C>T (p.Gln318Ter) c.970C>T (p.Gln324Ter) c.*811C>T (n.*811C>T) c.1030C>T (p.Gln344Ter) | dbSNP |
1 | g.7663590A>C | CA338122757 | CAMTA1 | c.1043A>C (p.Gln348Pro) c.*894A>C (n.*894A>C) c.953A>C (p.Gln318Pro) c.971A>C (p.Gln324Pro) c.*812A>C (n.*812A>C) c.1031A>C (p.Gln344Pro) | |
1 | g.7663590A>G | CA338122758 | CAMTA1 | c.1043A>G (p.Gln348Arg) c.*894A>G (n.*894A>G) c.953A>G (p.Gln318Arg) c.971A>G (p.Gln324Arg) c.*812A>G (n.*812A>G) c.1031A>G (p.Gln344Arg) | |
1 | g.7663590A>T | CA338122760 | CAMTA1 | c.1043A>T (p.Gln348Leu) c.*894A>T (n.*894A>T) c.953A>T (p.Gln318Leu) c.971A>T (p.Gln324Leu) c.*812A>T (n.*812A>T) c.1031A>T (p.Gln344Leu) | |
1 | g.7663591G>A | CA566358 | CAMTA1 | c.1044G>A (p.Gln348=) c.*895G>A (n.*895G>A) c.954G>A (p.Gln318=) c.972G>A (p.Gln324=) c.*813G>A (n.*813G>A) c.1032G>A (p.Gln344=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663591G>C | CA338122767 | CAMTA1 | c.1044G>C (p.Gln348His) c.*895G>C (n.*895G>C) c.954G>C (p.Gln318His) c.972G>C (p.Gln324His) c.*813G>C (n.*813G>C) c.1032G>C (p.Gln344His) | |
1 | g.7663591G= | CA1152023673 | CAMTA1 | c.1044G= (p.Gln348=) c.*895G= (n.*895G=) c.954G= (p.Gln318=) c.972G= (p.Gln324=) c.*813G= (n.*813G=) c.1032G= (p.Gln344=) | |
1 | g.7663591G>T | CA338122764 | CAMTA1 | c.1044G>T (p.Gln348His) c.*895G>T (n.*895G>T) c.954G>T (p.Gln318His) c.972G>T (p.Gln324His) c.*813G>T (n.*813G>T) c.1032G>T (p.Gln344His) | gnomAD v4 |
1 | g.7663592G>A | CA338122770 | CAMTA1 | c.1045G>A (p.Val349Met) c.*896G>A (n.*896G>A) c.955G>A (p.Val319Met) c.973G>A (p.Val325Met) c.*814G>A (n.*814G>A) c.1033G>A (p.Val345Met) | |
1 | g.7663592G>C | CA338122779 | CAMTA1 | c.1045G>C (p.Val349Leu) c.*896G>C (n.*896G>C) c.955G>C (p.Val319Leu) c.973G>C (p.Val325Leu) c.*814G>C (n.*814G>C) c.1033G>C (p.Val345Leu) | |
1 | g.7663592G>T | CA338122771 | CAMTA1 | c.1045G>T (p.Val349Leu) c.*896G>T (n.*896G>T) c.955G>T (p.Val319Leu) c.973G>T (p.Val325Leu) c.*814G>T (n.*814G>T) c.1033G>T (p.Val345Leu) | |
1 | g.7663593T>A | CA338122782 | CAMTA1 | c.1046T>A (p.Val349Glu) c.*897T>A (n.*897T>A) c.956T>A (p.Val319Glu) c.974T>A (p.Val325Glu) c.*815T>A (n.*815T>A) c.1034T>A (p.Val345Glu) | |
1 | g.7663593T>C | CA338122789 | CAMTA1 | c.1046T>C (p.Val349Ala) c.*897T>C (n.*897T>C) c.956T>C (p.Val319Ala) c.974T>C (p.Val325Ala) c.*815T>C (n.*815T>C) c.1034T>C (p.Val345Ala) | |
1 | g.7663593T>G | CA338122786 | CAMTA1 | c.1046T>G (p.Val349Gly) c.*897T>G (n.*897T>G) c.956T>G (p.Val319Gly) c.974T>G (p.Val325Gly) c.*815T>G (n.*815T>G) c.1034T>G (p.Val345Gly) | |
1 | g.7663594G>A | CA416026453 | CAMTA1 | c.1047G>A (p.Val349=) c.*898G>A (n.*898G>A) c.957G>A (p.Val319=) c.975G>A (p.Val325=) c.*816G>A (n.*816G>A) c.1035G>A (p.Val345=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7663594G>C | CA416026454 | CAMTA1 | c.1047G>C (p.Val349=) c.*898G>C (n.*898G>C) c.957G>C (p.Val319=) c.975G>C (p.Val325=) c.*816G>C (n.*816G>C) c.1035G>C (p.Val345=) | |
1 | g.7663594G= | CA1152023674 | CAMTA1 | c.1047G= (p.Val349=) c.*898G= (n.*898G=) c.957G= (p.Val319=) c.975G= (p.Val325=) c.*816G= (n.*816G=) c.1035G= (p.Val345=) | |
1 | g.7663594G>T | CA416026455 | CAMTA1 | c.1047G>T (p.Val349=) c.*898G>T (n.*898G>T) c.957G>T (p.Val319=) c.975G>T (p.Val325=) c.*816G>T (n.*816G>T) c.1035G>T (p.Val345=) | |
1 | g.7663595G>A | CA338122790 | CAMTA1 | c.1048G>A (p.Glu350Lys) c.*899G>A (n.*899G>A) c.958G>A (p.Glu320Lys) c.976G>A (p.Glu326Lys) c.*817G>A (n.*817G>A) c.1036G>A (p.Glu346Lys) | |
1 | g.7663595G>C | CA338122791 | CAMTA1 | c.1048G>C (p.Glu350Gln) c.*899G>C (n.*899G>C) c.958G>C (p.Glu320Gln) c.976G>C (p.Glu326Gln) c.*817G>C (n.*817G>C) c.1036G>C (p.Glu346Gln) | |
1 | g.7663595G>T | CA338122792 | CAMTA1 | c.1048G>T (p.Glu350Ter) c.*899G>T (n.*899G>T) c.958G>T (p.Glu320Ter) c.976G>T (p.Glu326Ter) c.*817G>T (n.*817G>T) c.1036G>T (p.Glu346Ter) | |
1 | g.7663596A>C | CA338122793 | CAMTA1 | c.1049A>C (p.Glu350Ala) c.*900A>C (n.*900A>C) c.959A>C (p.Glu320Ala) c.977A>C (p.Glu326Ala) c.*818A>C (n.*818A>C) c.1037A>C (p.Glu346Ala) | |
1 | g.7663596A>G | CA338122794 | CAMTA1 | c.1049A>G (p.Glu350Gly) c.*900A>G (n.*900A>G) c.959A>G (p.Glu320Gly) c.977A>G (p.Glu326Gly) c.*818A>G (n.*818A>G) c.1037A>G (p.Glu346Gly) | |
1 | g.7663596A>T | CA338122795 | CAMTA1 | c.1049A>T (p.Glu350Val) c.*900A>T (n.*900A>T) c.959A>T (p.Glu320Val) c.977A>T (p.Glu326Val) c.*818A>T (n.*818A>T) c.1037A>T (p.Glu346Val) | |
1 | g.7663597A>C | CA338122796 | CAMTA1 | c.1050A>C (p.Glu350Asp) c.*901A>C (n.*901A>C) c.960A>C (p.Glu320Asp) c.978A>C (p.Glu326Asp) c.*819A>C (n.*819A>C) c.1038A>C (p.Glu346Asp) | |
1 | g.7663597A>G | CA416026456 | CAMTA1 | c.1050A>G (p.Glu350=) c.*901A>G (n.*901A>G) c.960A>G (p.Glu320=) c.978A>G (p.Glu326=) c.*819A>G (n.*819A>G) c.1038A>G (p.Glu346=) | |
1 | g.7663597A>T | CA338122798 | CAMTA1 | c.1050A>T (p.Glu350Asp) c.*901A>T (n.*901A>T) c.960A>T (p.Glu320Asp) c.978A>T (p.Glu326Asp) c.*819A>T (n.*819A>T) c.1038A>T (p.Glu346Asp) | |
1 | g.7663598G>A | CA338122799 | CAMTA1 | c.1051G>A (p.Val351Ile) c.*902G>A (n.*902G>A) c.961G>A (p.Val321Ile) c.979G>A (p.Val327Ile) c.*820G>A (n.*820G>A) c.1039G>A (p.Val347Ile) | |
1 | g.7663598G>C | CA338122802 | CAMTA1 | c.1051G>C (p.Val351Leu) c.*902G>C (n.*902G>C) c.961G>C (p.Val321Leu) c.979G>C (p.Val327Leu) c.*820G>C (n.*820G>C) c.1039G>C (p.Val347Leu) | |
1 | g.7663598G>T | CA338122805 | CAMTA1 | c.1051G>T (p.Val351Phe) c.*902G>T (n.*902G>T) c.961G>T (p.Val321Phe) c.979G>T (p.Val327Phe) c.*820G>T (n.*820G>T) c.1039G>T (p.Val347Phe) | |
1 | g.7663599T>A | CA338122816 | CAMTA1 | c.1052T>A (p.Val351Asp) c.*903T>A (n.*903T>A) c.962T>A (p.Val321Asp) c.980T>A (p.Val327Asp) c.*821T>A (n.*821T>A) c.1040T>A (p.Val347Asp) | |
1 | g.7663599T>C | CA338122814 | CAMTA1 | c.1052T>C (p.Val351Ala) c.*903T>C (n.*903T>C) c.962T>C (p.Val321Ala) c.980T>C (p.Val327Ala) c.*821T>C (n.*821T>C) c.1040T>C (p.Val347Ala) | |
1 | g.7663599T>G | CA338122813 | CAMTA1 | c.1052T>G (p.Val351Gly) c.*903T>G (n.*903T>G) c.962T>G (p.Val321Gly) c.980T>G (p.Val327Gly) c.*821T>G (n.*821T>G) c.1040T>G (p.Val347Gly) | |
1 | g.7663600C>A | CA416026457 | CAMTA1 | c.1053C>A (p.Val351=) c.*904C>A (n.*904C>A) c.963C>A (p.Val321=) c.981C>A (p.Val327=) c.*822C>A (n.*822C>A) c.1041C>A (p.Val347=) | gnomAD v4 |
1 | g.7663600C>G | CA416026459 | CAMTA1 | c.1053C>G (p.Val351=) c.*904C>G (n.*904C>G) c.963C>G (p.Val321=) c.981C>G (p.Val327=) c.*822C>G (n.*822C>G) c.1041C>G (p.Val347=) | |
1 | g.7663600C>T | CA416026460 | CAMTA1 | c.1053C>T (p.Val351=) c.*904C>T (n.*904C>T) c.963C>T (p.Val321=) c.981C>T (p.Val327=) c.*822C>T (n.*822C>T) c.1041C>T (p.Val347=) | |
1 | g.7663601C>A | CA338122819 | CAMTA1 | c.1054C>A (p.Pro352Thr) c.*905C>A (n.*905C>A) c.964C>A (p.Pro322Thr) c.982C>A (p.Pro328Thr) c.*823C>A (n.*823C>A) c.1042C>A (p.Pro348Thr) | |
1 | g.7663601C>G | CA338122821 | CAMTA1 | c.1054C>G (p.Pro352Ala) c.*905C>G (n.*905C>G) c.964C>G (p.Pro322Ala) c.982C>G (p.Pro328Ala) c.*823C>G (n.*823C>G) c.1042C>G (p.Pro348Ala) | |
1 | g.7663601C>T | CA338122822 | CAMTA1 | c.1054C>T (p.Pro352Ser) c.*905C>T (n.*905C>T) c.964C>T (p.Pro322Ser) c.982C>T (p.Pro328Ser) c.*823C>T (n.*823C>T) c.1042C>T (p.Pro348Ser) | |
1 | g.7663602C>A | CA338122824 | CAMTA1 | c.1055C>A (p.Pro352His) c.*906C>A (n.*906C>A) c.965C>A (p.Pro322His) c.983C>A (p.Pro328His) c.*824C>A (n.*824C>A) c.1043C>A (p.Pro348His) | |
1 | g.7663602C>G | CA338122828 | CAMTA1 | c.1055C>G (p.Pro352Arg) c.*906C>G (n.*906C>G) c.965C>G (p.Pro322Arg) c.983C>G (p.Pro328Arg) c.*824C>G (n.*824C>G) c.1043C>G (p.Pro348Arg) | |
1 | g.7663602C>T | CA338122832 | CAMTA1 | c.1055C>T (p.Pro352Leu) c.*906C>T (n.*906C>T) c.965C>T (p.Pro322Leu) c.983C>T (p.Pro328Leu) c.*824C>T (n.*824C>T) c.1043C>T (p.Pro348Leu) | |
1 | g.7663603C>A | CA416026463 | CAMTA1 | c.1056C>A (p.Pro352=) c.*907C>A (n.*907C>A) c.966C>A (p.Pro322=) c.984C>A (p.Pro328=) c.*825C>A (n.*825C>A) c.1044C>A (p.Pro348=) | |
1 | g.7663603C= | CA1147913068 | CAMTA1 | c.1056C= (p.Pro352=) c.*907C= (n.*907C=) c.966C= (p.Pro322=) c.984C= (p.Pro328=) c.*825C= (n.*825C=) c.1044C= (p.Pro348=) | |
1 | g.7663603C>G | CA566359 | CAMTA1 | c.1056C>G (p.Pro352=) c.*907C>G (n.*907C>G) c.966C>G (p.Pro322=) c.984C>G (p.Pro328=) c.*825C>G (n.*825C>G) c.1044C>G (p.Pro348=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663603C>T | CA566360 | CAMTA1 | c.1056C>T (p.Pro352=) c.*907C>T (n.*907C>T) c.966C>T (p.Pro322=) c.984C>T (p.Pro328=) c.*825C>T (n.*825C>T) c.1044C>T (p.Pro348=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.7663604G>A | CA338122834 | CAMTA1 | c.1057G>A (p.Asp353Asn) c.*908G>A (n.*908G>A) c.967G>A (p.Asp323Asn) c.985G>A (p.Asp329Asn) c.*826G>A (n.*826G>A) c.1045G>A (p.Asp349Asn) | dbSNP gnomAD v4 |
1 | g.7663604G>C | CA338122835 | CAMTA1 | c.1057G>C (p.Asp353His) c.*908G>C (n.*908G>C) c.967G>C (p.Asp323His) c.985G>C (p.Asp329His) c.*826G>C (n.*826G>C) c.1045G>C (p.Asp349His) | |
1 | g.7663604G= | CA1152023675 | CAMTA1 | c.1057G= (p.Asp353=) c.*908G= (n.*908G=) c.967G= (p.Asp323=) c.985G= (p.Asp329=) c.*826G= (n.*826G=) c.1045G= (p.Asp349=) | |
1 | g.7663604G>T | CA338122838 | CAMTA1 | c.1057G>T (p.Asp353Tyr) c.*908G>T (n.*908G>T) c.967G>T (p.Asp323Tyr) c.985G>T (p.Asp329Tyr) c.*826G>T (n.*826G>T) c.1045G>T (p.Asp349Tyr) | |
1 | g.7663605A>C | CA338122853 | CAMTA1 | c.1058A>C (p.Asp353Ala) c.*909A>C (n.*909A>C) c.968A>C (p.Asp323Ala) c.986A>C (p.Asp329Ala) c.*827A>C (n.*827A>C) c.1046A>C (p.Asp349Ala) | |
1 | g.7663605A>G | CA338122844 | CAMTA1 | c.1058A>G (p.Asp353Gly) c.*909A>G (n.*909A>G) c.968A>G (p.Asp323Gly) c.986A>G (p.Asp329Gly) c.*827A>G (n.*827A>G) c.1046A>G (p.Asp349Gly) | |
1 | g.7663605A>T | CA338122841 | CAMTA1 | c.1058A>T (p.Asp353Val) c.*909A>T (n.*909A>T) c.968A>T (p.Asp323Val) c.986A>T (p.Asp329Val) c.*827A>T (n.*827A>T) c.1046A>T (p.Asp349Val) | |
1 | g.7663606C>A | CA338122854 | CAMTA1 | c.1059C>A (p.Asp353Glu) c.*910C>A (n.*910C>A) c.969C>A (p.Asp323Glu) c.987C>A (p.Asp329Glu) c.*828C>A (n.*828C>A) c.1047C>A (p.Asp349Glu) | |
1 | g.7663606C= | CA1152023676 | CAMTA1 | c.1059C= (p.Asp353=) c.*910C= (n.*910C=) c.969C= (p.Asp323=) c.987C= (p.Asp329=) c.*828C= (n.*828C=) c.1047C= (p.Asp349=) | |
1 | g.7663606C>G | CA338122857 | CAMTA1 | c.1059C>G (p.Asp353Glu) c.*910C>G (n.*910C>G) c.969C>G (p.Asp323Glu) c.987C>G (p.Asp329Glu) c.*828C>G (n.*828C>G) c.1047C>G (p.Asp349Glu) | |
1 | g.7663606C>T | CA416026467 | CAMTA1 | c.1059C>T (p.Asp353=) c.*910C>T (n.*910C>T) c.969C>T (p.Asp323=) c.987C>T (p.Asp329=) c.*828C>T (n.*828C>T) c.1047C>T (p.Asp349=) | dbSNP |
1 | g.7663607A>C | CA338122859 | CAMTA1 | c.1060A>C (p.Thr354Pro) c.*911A>C (n.*911A>C) c.970A>C (p.Thr324Pro) c.988A>C (p.Thr330Pro) c.*829A>C (n.*829A>C) c.1048A>C (p.Thr350Pro) | |
1 | g.7663607A>G | CA338122862 | CAMTA1 | c.1060A>G (p.Thr354Ala) c.*911A>G (n.*911A>G) c.970A>G (p.Thr324Ala) c.988A>G (p.Thr330Ala) c.*829A>G (n.*829A>G) c.1048A>G (p.Thr350Ala) | gnomAD v4 |
1 | g.7663607A>T | CA338122868 | CAMTA1 | c.1060A>T (p.Thr354Ser) c.*911A>T (n.*911A>T) c.970A>T (p.Thr324Ser) c.988A>T (p.Thr330Ser) c.*829A>T (n.*829A>T) c.1048A>T (p.Thr350Ser) | |
1 | g.7663608C>A | CA338122884 | CAMTA1 | c.1061C>A (p.Thr354Asn) c.*912C>A (n.*912C>A) c.971C>A (p.Thr324Asn) c.989C>A (p.Thr330Asn) c.*830C>A (n.*830C>A) c.1049C>A (p.Thr350Asn) | |
1 | g.7663608C>G | CA338122882 | CAMTA1 | c.1061C>G (p.Thr354Ser) c.*912C>G (n.*912C>G) c.971C>G (p.Thr324Ser) c.989C>G (p.Thr330Ser) c.*830C>G (n.*830C>G) c.1049C>G (p.Thr350Ser) | |
1 | g.7663608C>T | CA338122872 | CAMTA1 | c.1061C>T (p.Thr354Ile) c.*912C>T (n.*912C>T) c.971C>T (p.Thr324Ile) c.989C>T (p.Thr330Ile) c.*830C>T (n.*830C>T) c.1049C>T (p.Thr350Ile) | |
1 | g.7663609C>A | CA416026470 | CAMTA1 | c.1062C>A (p.Thr354=) c.*913C>A (n.*913C>A) c.972C>A (p.Thr324=) c.990C>A (p.Thr330=) c.*831C>A (n.*831C>A) c.1050C>A (p.Thr350=) | |
1 | g.7663609C>G | CA416026472 | CAMTA1 | c.1062C>G (p.Thr354=) c.*913C>G (n.*913C>G) c.972C>G (p.Thr324=) c.990C>G (p.Thr330=) c.*831C>G (n.*831C>G) c.1050C>G (p.Thr350=) | |
1 | g.7663609C>T | CA416026468 | CAMTA1 | c.1062C>T (p.Thr354=) c.*913C>T (n.*913C>T) c.972C>T (p.Thr324=) c.990C>T (p.Thr330=) c.*831C>T (n.*831C>T) c.1050C>T (p.Thr350=) | |
1 | g.7663610A>C | CA338122892 | CAMTA1 | c.1063A>C (p.Thr355Pro) c.*914A>C (n.*914A>C) c.973A>C (p.Thr325Pro) c.991A>C (p.Thr331Pro) c.*832A>C (n.*832A>C) c.1051A>C (p.Thr351Pro) | |
1 | g.7663610A>G | CA338122895 | CAMTA1 | c.1063A>G (p.Thr355Ala) c.*914A>G (n.*914A>G) c.973A>G (p.Thr325Ala) c.991A>G (p.Thr331Ala) c.*832A>G (n.*832A>G) c.1051A>G (p.Thr351Ala) | |
1 | g.7663610A>T | CA338122898 | CAMTA1 | c.1063A>T (p.Thr355Ser) c.*914A>T (n.*914A>T) c.973A>T (p.Thr325Ser) c.991A>T (p.Thr331Ser) c.*832A>T (n.*832A>T) c.1051A>T (p.Thr351Ser) | |
1 | g.7663611C>A | CA338122901 | CAMTA1 | c.1064C>A (p.Thr355Asn) c.*915C>A (n.*915C>A) c.974C>A (p.Thr325Asn) c.992C>A (p.Thr331Asn) c.*833C>A (n.*833C>A) c.1052C>A (p.Thr351Asn) | |
1 | g.7663611C>G | CA338122919 | CAMTA1 | c.1064C>G (p.Thr355Ser) c.*915C>G (n.*915C>G) c.974C>G (p.Thr325Ser) c.992C>G (p.Thr331Ser) c.*833C>G (n.*833C>G) c.1052C>G (p.Thr351Ser) | |
1 | g.7663611C>T | CA338122936 | CAMTA1 | c.1064C>T (p.Thr355Ile) c.*915C>T (n.*915C>T) c.974C>T (p.Thr325Ile) c.992C>T (p.Thr331Ile) c.*833C>T (n.*833C>T) c.1052C>T (p.Thr351Ile) | |
1 | g.7663612C>A | CA416026478 | CAMTA1 | c.1065C>A (p.Thr355=) c.*916C>A (n.*916C>A) c.975C>A (p.Thr325=) c.993C>A (p.Thr331=) c.*834C>A (n.*834C>A) c.1053C>A (p.Thr351=) | |
1 | g.7663612C= | CA1152023677 | CAMTA1 | c.1065C= (p.Thr355=) c.*916C= (n.*916C=) c.975C= (p.Thr325=) c.993C= (p.Thr331=) c.*834C= (n.*834C=) c.1053C= (p.Thr351=) | |
1 | g.7663612C>G | CA416026474 | CAMTA1 | c.1065C>G (p.Thr355=) c.*916C>G (n.*916C>G) c.975C>G (p.Thr325=) c.993C>G (p.Thr331=) c.*834C>G (n.*834C>G) c.1053C>G (p.Thr351=) | |
1 | g.7663612C>T | CA416026476 | CAMTA1 | c.1065C>T (p.Thr355=) c.*916C>T (n.*916C>T) c.975C>T (p.Thr325=) c.993C>T (p.Thr331=) c.*834C>T (n.*834C>T) c.1053C>T (p.Thr351=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.7663613C>A | CA338122943 | CAMTA1 | c.1066C>A (p.Gln356Lys) c.*917C>A (n.*917C>A) c.976C>A (p.Gln326Lys) c.994C>A (p.Gln332Lys) c.*835C>A (n.*835C>A) c.1054C>A (p.Gln352Lys) | gnomAD v4 |
1 | g.7663613C>G | CA338122951 | CAMTA1 | c.1066C>G (p.Gln356Glu) c.*917C>G (n.*917C>G) c.976C>G (p.Gln326Glu) c.994C>G (p.Gln332Glu) c.*835C>G (n.*835C>G) c.1054C>G (p.Gln352Glu) | |
1 | g.7663613C>T | CA338122948 | CAMTA1 | c.1066C>T (p.Gln356Ter) c.*917C>T (n.*917C>T) c.976C>T (p.Gln326Ter) c.994C>T (p.Gln332Ter) c.*835C>T (n.*835C>T) c.1054C>T (p.Gln352Ter) | |
1 | g.7663614A>C | CA338122955 | CAMTA1 | c.1067A>C (p.Gln356Pro) c.*918A>C (n.*918A>C) c.977A>C (p.Gln326Pro) c.995A>C (p.Gln332Pro) c.*836A>C (n.*836A>C) c.1055A>C (p.Gln352Pro) | |
1 | g.7663614A>G | CA338122974 | CAMTA1 | c.1067A>G (p.Gln356Arg) c.*918A>G (n.*918A>G) c.977A>G (p.Gln326Arg) c.995A>G (p.Gln332Arg) c.*836A>G (n.*836A>G) c.1055A>G (p.Gln352Arg) | |
1 | g.7663614A>T | CA338122977 | CAMTA1 | c.1067A>T (p.Gln356Leu) c.*918A>T (n.*918A>T) c.977A>T (p.Gln326Leu) c.995A>T (p.Gln332Leu) c.*836A>T (n.*836A>T) c.1055A>T (p.Gln352Leu) | |
1 | g.7663615G>A | CA416026480 | CAMTA1 | c.1068G>A (p.Gln356=) c.*919G>A (n.*919G>A) c.978G>A (p.Gln326=) c.996G>A (p.Gln332=) c.*837G>A (n.*837G>A) c.1056G>A (p.Gln352=) | |
1 | g.7663615G>C | CA17244069 | CAMTA1 | c.1068G>C (p.Gln356His) c.*919G>C (n.*919G>C) c.978G>C (p.Gln326His) c.996G>C (p.Gln332His) c.*837G>C (n.*837G>C) c.1056G>C (p.Gln352His) | dbSNP |
1 | g.7663615G= | CA1152023678 | CAMTA1 | c.1068G= (p.Gln356=) c.*919G= (n.*919G=) c.978G= (p.Gln326=) c.996G= (p.Gln332=) c.*837G= (n.*837G=) c.1056G= (p.Gln352=) | |
1 | g.7663615G>T | CA338122980 | CAMTA1 | c.1068G>T (p.Gln356His) c.*919G>T (n.*919G>T) c.978G>T (p.Gln326His) c.996G>T (p.Gln332His) c.*837G>T (n.*837G>T) c.1056G>T (p.Gln352His) | |
1 | g.7663616A>C | CA338122982 | CAMTA1 | c.1069A>C (p.Ser357Arg) c.*920A>C (n.*920A>C) c.979A>C (p.Ser327Arg) c.997A>C (p.Ser333Arg) c.*838A>C (n.*838A>C) c.1057A>C (p.Ser353Arg) | |
1 | g.7663616A>G | CA338122986 | CAMTA1 | c.1069A>G (p.Ser357Gly) c.*920A>G (n.*920A>G) c.979A>G (p.Ser327Gly) c.997A>G (p.Ser333Gly) c.*838A>G (n.*838A>G) c.1057A>G (p.Ser353Gly) | |
1 | g.7663616A>T | CA338122989 | CAMTA1 | c.1069A>T (p.Ser357Cys) c.*920A>T (n.*920A>T) c.979A>T (p.Ser327Cys) c.997A>T (p.Ser333Cys) c.*838A>T (n.*838A>T) c.1057A>T (p.Ser353Cys) | |
1 | g.7663617G>A | CA17244074 | CAMTA1 | c.1070G>A (p.Ser357Asn) c.*921G>A (n.*921G>A) c.980G>A (p.Ser327Asn) c.998G>A (p.Ser333Asn) c.*839G>A (n.*839G>A) c.1058G>A (p.Ser353Asn) | dbSNP gnomAD v4 |
1 | g.7663617G>C | CA338124369 | CAMTA1 | c.1070G>C (p.Ser357Thr) c.*921G>C (n.*921G>C) c.980G>C (p.Ser327Thr) c.998G>C (p.Ser333Thr) c.*839G>C (n.*839G>C) c.1058G>C (p.Ser353Thr) | |
1 | g.7663617G= | CA1152023679 | CAMTA1 | c.1070G= (p.Ser357=) c.*921G= (n.*921G=) c.980G= (p.Ser327=) c.998G= (p.Ser333=) c.*839G= (n.*839G=) c.1058G= (p.Ser353=) | |
1 | g.7663617G>T | CA338124378 | CAMTA1 | c.1070G>T (p.Ser357Ile) c.*921G>T (n.*921G>T) c.980G>T (p.Ser327Ile) c.998G>T (p.Ser333Ile) c.*839G>T (n.*839G>T) c.1058G>T (p.Ser353Ile) | |
1 | g.7663618C>A | CA338124395 | CAMTA1 | c.1071C>A (p.Ser357Arg) c.*922C>A (n.*922C>A) c.981C>A (p.Ser327Arg) c.999C>A (p.Ser333Arg) c.*840C>A (n.*840C>A) c.1059C>A (p.Ser353Arg) | gnomAD v4 |
1 | g.7663618C>G | CA338124385 | CAMTA1 | c.1071C>G (p.Ser357Arg) c.*922C>G (n.*922C>G) c.981C>G (p.Ser327Arg) c.999C>G (p.Ser333Arg) c.*840C>G (n.*840C>G) c.1059C>G (p.Ser353Arg) | |
1 | g.7663618C>T | CA416026458 | CAMTA1 | c.1071C>T (p.Ser357=) c.*922C>T (n.*922C>T) c.981C>T (p.Ser327=) c.999C>T (p.Ser333=) c.*840C>T (n.*840C>T) c.1059C>T (p.Ser353=) |