Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.7663406T>A | CA338121573 | CAMTA1 | c.859T>A (p.Ser287Thr) c.*710T>A (n.*710T>A) c.769T>A (p.Ser257Thr) c.787T>A (p.Ser263Thr) c.*628T>A (n.*628T>A) c.847T>A (p.Ser283Thr) | |
1 | g.7663406T>C | CA338121577 | CAMTA1 | c.859T>C (p.Ser287Pro) c.*710T>C (n.*710T>C) c.769T>C (p.Ser257Pro) c.787T>C (p.Ser263Pro) c.*628T>C (n.*628T>C) c.847T>C (p.Ser283Pro) | gnomAD v4 |
1 | g.7663406T>G | CA338121571 | CAMTA1 | c.859T>G (p.Ser287Ala) c.*710T>G (n.*710T>G) c.769T>G (p.Ser257Ala) c.787T>G (p.Ser263Ala) c.*628T>G (n.*628T>G) c.847T>G (p.Ser283Ala) | |
1 | g.7663407C>A | CA338121579 | CAMTA1 | c.860C>A (p.Ser287Ter) c.*711C>A (n.*711C>A) c.770C>A (p.Ser257Ter) c.788C>A (p.Ser263Ter) c.*629C>A (n.*629C>A) c.848C>A (p.Ser283Ter) | |
1 | g.7663407C= | CA1152023602 | CAMTA1 | c.860C= (p.Ser287=) c.*711C= (n.*711C=) c.770C= (p.Ser257=) c.788C= (p.Ser263=) c.*629C= (n.*629C=) c.848C= (p.Ser283=) | |
1 | g.7663407C>G | CA338121585 | CAMTA1 | c.860C>G (p.Ser287Trp) c.*711C>G (n.*711C>G) c.770C>G (p.Ser257Trp) c.788C>G (p.Ser263Trp) c.*629C>G (n.*629C>G) c.848C>G (p.Ser283Trp) | COSMIC COSMIC |
1 | g.7663407C>T | CA338121582 | CAMTA1 | c.860C>T (p.Ser287Leu) c.*711C>T (n.*711C>T) c.770C>T (p.Ser257Leu) c.788C>T (p.Ser263Leu) c.*629C>T (n.*629C>T) c.848C>T (p.Ser283Leu) | dbSNP gnomAD v4 COSMIC |
1 | g.7663408G>A | CA566312 | CAMTA1 | c.861G>A (p.Ser287=) c.*712G>A (n.*712G>A) c.771G>A (p.Ser257=) c.789G>A (p.Ser263=) c.*630G>A (n.*630G>A) c.849G>A (p.Ser283=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663408G>C | CA416026352 | CAMTA1 | c.861G>C (p.Ser287=) c.*712G>C (n.*712G>C) c.771G>C (p.Ser257=) c.789G>C (p.Ser263=) c.*630G>C (n.*630G>C) c.849G>C (p.Ser283=) | dbSNP |
1 | g.7663408G= | CA1152023603 | CAMTA1 | c.861G= (p.Ser287=) c.*712G= (n.*712G=) c.771G= (p.Ser257=) c.789G= (p.Ser263=) c.*630G= (n.*630G=) c.849G= (p.Ser283=) | |
1 | g.7663408G>T | CA416026353 | CAMTA1 | c.861G>T (p.Ser287=) c.*712G>T (n.*712G>T) c.771G>T (p.Ser257=) c.789G>T (p.Ser263=) c.*630G>T (n.*630G>T) c.849G>T (p.Ser283=) | gnomAD v4 |
1 | g.7663409C>A | CA338121590 | CAMTA1 | c.862C>A (p.Pro288Thr) c.*713C>A (n.*713C>A) c.772C>A (p.Pro258Thr) c.790C>A (p.Pro264Thr) c.*631C>A (n.*631C>A) c.850C>A (p.Pro284Thr) | gnomAD v4 |
1 | g.7663409C>G | CA338121593 | CAMTA1 | c.862C>G (p.Pro288Ala) c.*713C>G (n.*713C>G) c.772C>G (p.Pro258Ala) c.790C>G (p.Pro264Ala) c.*631C>G (n.*631C>G) c.850C>G (p.Pro284Ala) | |
1 | g.7663409C>T | CA338121602 | CAMTA1 | c.862C>T (p.Pro288Ser) c.*713C>T (n.*713C>T) c.772C>T (p.Pro258Ser) c.790C>T (p.Pro264Ser) c.*631C>T (n.*631C>T) c.850C>T (p.Pro284Ser) | |
1 | g.7663410C>A | CA338121606 | CAMTA1 | c.863C>A (p.Pro288His) c.*714C>A (n.*714C>A) c.773C>A (p.Pro258His) c.791C>A (p.Pro264His) c.*632C>A (n.*632C>A) c.851C>A (p.Pro284His) | gnomAD v4 |
1 | g.7663410C>G | CA338121614 | CAMTA1 | c.863C>G (p.Pro288Arg) c.*714C>G (n.*714C>G) c.773C>G (p.Pro258Arg) c.791C>G (p.Pro264Arg) c.*632C>G (n.*632C>G) c.851C>G (p.Pro284Arg) | |
1 | g.7663410C>T | CA338121615 | CAMTA1 | c.863C>T (p.Pro288Leu) c.*714C>T (n.*714C>T) c.773C>T (p.Pro258Leu) c.791C>T (p.Pro264Leu) c.*632C>T (n.*632C>T) c.851C>T (p.Pro284Leu) | |
1 | g.7663411C>A | CA416026354 | CAMTA1 | c.864C>A (p.Pro288=) c.*715C>A (n.*715C>A) c.774C>A (p.Pro258=) c.792C>A (p.Pro264=) c.*633C>A (n.*633C>A) c.852C>A (p.Pro284=) | |
1 | g.7663411C= | CA1152023604 | CAMTA1 | c.864C= (p.Pro288=) c.*715C= (n.*715C=) c.774C= (p.Pro258=) c.792C= (p.Pro264=) c.*633C= (n.*633C=) c.852C= (p.Pro284=) | |
1 | g.7663411C>G | CA416026355 | CAMTA1 | c.864C>G (p.Pro288=) c.*715C>G (n.*715C>G) c.774C>G (p.Pro258=) c.792C>G (p.Pro264=) c.*633C>G (n.*633C>G) c.852C>G (p.Pro284=) | |
1 | g.7663411C>T | CA416026356 | CAMTA1 | c.864C>T (p.Pro288=) c.*715C>T (n.*715C>T) c.774C>T (p.Pro258=) c.792C>T (p.Pro264=) c.*633C>T (n.*633C>T) c.852C>T (p.Pro284=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7663412A>C | CA338121616 | CAMTA1 | c.865A>C (p.Lys289Gln) c.*716A>C (n.*716A>C) c.775A>C (p.Lys259Gln) c.793A>C (p.Lys265Gln) c.*634A>C (n.*634A>C) c.853A>C (p.Lys285Gln) | |
1 | g.7663412A>G | CA338121617 | CAMTA1 | c.865A>G (p.Lys289Glu) c.*716A>G (n.*716A>G) c.775A>G (p.Lys259Glu) c.793A>G (p.Lys265Glu) c.*634A>G (n.*634A>G) c.853A>G (p.Lys285Glu) | |
1 | g.7663412A>T | CA338121618 | CAMTA1 | c.865A>T (p.Lys289Ter) c.*716A>T (n.*716A>T) c.775A>T (p.Lys259Ter) c.793A>T (p.Lys265Ter) c.*634A>T (n.*634A>T) c.853A>T (p.Lys285Ter) | |
1 | g.7663413del | CA2643031703 | CAMTA1 | c.866del (p.Lys289ArgfsTer?) c.*717del (n.*717del) c.776del (p.Lys259ArgfsTer?) c.794del (p.Lys265ArgfsTer?) c.*635del (n.*635del) c.854del (p.Lys285ArgfsTer?) | gnomAD v4 |
1 | g.7663413A>C | CA338121625 | CAMTA1 | c.866A>C (p.Lys289Thr) c.*717A>C (n.*717A>C) c.776A>C (p.Lys259Thr) c.794A>C (p.Lys265Thr) c.*635A>C (n.*635A>C) c.854A>C (p.Lys285Thr) | |
1 | g.7663413A>G | CA338121623 | CAMTA1 | c.866A>G (p.Lys289Arg) c.*717A>G (n.*717A>G) c.776A>G (p.Lys259Arg) c.794A>G (p.Lys265Arg) c.*635A>G (n.*635A>G) c.854A>G (p.Lys285Arg) | |
1 | g.7663413A>T | CA338121621 | CAMTA1 | c.866A>T (p.Lys289Met) c.*717A>T (n.*717A>T) c.776A>T (p.Lys259Met) c.794A>T (p.Lys265Met) c.*635A>T (n.*635A>T) c.854A>T (p.Lys285Met) | |
1 | g.7663414G>A | CA17243836 | CAMTA1 | c.867G>A (p.Lys289=) c.*718G>A (n.*718G>A) c.777G>A (p.Lys259=) c.795G>A (p.Lys265=) c.*636G>A (n.*636G>A) c.855G>A (p.Lys285=) | dbSNP |
1 | g.7663414G>C | CA338121629 | CAMTA1 | c.867G>C (p.Lys289Asn) c.*718G>C (n.*718G>C) c.777G>C (p.Lys259Asn) c.795G>C (p.Lys265Asn) c.*636G>C (n.*636G>C) c.855G>C (p.Lys285Asn) | gnomAD v4 |
1 | g.7663414G= | CA1152023605 | CAMTA1 | c.867G= (p.Lys289=) c.*718G= (n.*718G=) c.777G= (p.Lys259=) c.795G= (p.Lys265=) c.*636G= (n.*636G=) c.855G= (p.Lys285=) | |
1 | g.7663414G>T | CA338121631 | CAMTA1 | c.867G>T (p.Lys289Asn) c.*718G>T (n.*718G>T) c.777G>T (p.Lys259Asn) c.795G>T (p.Lys265Asn) c.*636G>T (n.*636G>T) c.855G>T (p.Lys285Asn) | gnomAD v4 |
1 | g.7663415G>A | CA338121635 | CAMTA1 | c.868G>A (p.Val290Met) c.*719G>A (n.*719G>A) c.778G>A (p.Val260Met) c.796G>A (p.Val266Met) c.*637G>A (n.*637G>A) c.856G>A (p.Val286Met) | |
1 | g.7663415G>C | CA338121639 | CAMTA1 | c.868G>C (p.Val290Leu) c.*719G>C (n.*719G>C) c.778G>C (p.Val260Leu) c.796G>C (p.Val266Leu) c.*637G>C (n.*637G>C) c.856G>C (p.Val286Leu) | |
1 | g.7663415G>T | CA338121644 | CAMTA1 | c.868G>T (p.Val290Leu) c.*719G>T (n.*719G>T) c.778G>T (p.Val260Leu) c.796G>T (p.Val266Leu) c.*637G>T (n.*637G>T) c.856G>T (p.Val286Leu) | |
1 | g.7663416T>A | CA338121647 | CAMTA1 | c.869T>A (p.Val290Glu) c.*720T>A (n.*720T>A) c.779T>A (p.Val260Glu) c.797T>A (p.Val266Glu) c.*638T>A (n.*638T>A) c.857T>A (p.Val286Glu) | |
1 | g.7663416T>C | CA338121650 | CAMTA1 | c.869T>C (p.Val290Ala) c.*720T>C (n.*720T>C) c.779T>C (p.Val260Ala) c.797T>C (p.Val266Ala) c.*638T>C (n.*638T>C) c.857T>C (p.Val286Ala) | |
1 | g.7663416T>G | CA338121653 | CAMTA1 | c.869T>G (p.Val290Gly) c.*720T>G (n.*720T>G) c.779T>G (p.Val260Gly) c.797T>G (p.Val266Gly) c.*638T>G (n.*638T>G) c.857T>G (p.Val286Gly) | |
1 | g.7663417G>A | CA416026357 | CAMTA1 | c.870G>A (p.Val290=) c.*721G>A (n.*721G>A) c.780G>A (p.Val260=) c.798G>A (p.Val266=) c.*639G>A (n.*639G>A) c.858G>A (p.Val286=) | gnomAD v4 |
1 | g.7663417G>C | CA416026359 | CAMTA1 | c.870G>C (p.Val290=) c.*721G>C (n.*721G>C) c.780G>C (p.Val260=) c.798G>C (p.Val266=) c.*639G>C (n.*639G>C) c.858G>C (p.Val286=) | |
1 | g.7663417G>T | CA416026358 | CAMTA1 | c.870G>T (p.Val290=) c.*721G>T (n.*721G>T) c.780G>T (p.Val260=) c.798G>T (p.Val266=) c.*639G>T (n.*639G>T) c.858G>T (p.Val286=) | |
1 | g.7663418G>A | CA338121656 | CAMTA1 | c.871G>A (p.Glu291Lys) c.*722G>A (n.*722G>A) c.781G>A (p.Glu261Lys) c.799G>A (p.Glu267Lys) c.*640G>A (n.*640G>A) c.859G>A (p.Glu287Lys) | |
1 | g.7663418G>C | CA338121660 | CAMTA1 | c.871G>C (p.Glu291Gln) c.*722G>C (n.*722G>C) c.781G>C (p.Glu261Gln) c.799G>C (p.Glu267Gln) c.*640G>C (n.*640G>C) c.859G>C (p.Glu287Gln) | |
1 | g.7663418G>T | CA338121662 | CAMTA1 | c.871G>T (p.Glu291Ter) c.*722G>T (n.*722G>T) c.781G>T (p.Glu261Ter) c.799G>T (p.Glu267Ter) c.*640G>T (n.*640G>T) c.859G>T (p.Glu287Ter) | |
1 | g.7663419A= | CA1152023606 | CAMTA1 | c.872A= (p.Glu291=) c.*723A= (n.*723A=) c.782A= (p.Glu261=) c.800A= (p.Glu267=) c.*641A= (n.*641A=) c.860A= (p.Glu287=) | |
1 | g.7663419A>C | CA338121668 | CAMTA1 | c.872A>C (p.Glu291Ala) c.*723A>C (n.*723A>C) c.782A>C (p.Glu261Ala) c.800A>C (p.Glu267Ala) c.*641A>C (n.*641A>C) c.860A>C (p.Glu287Ala) | |
1 | g.7663419A>G | CA338121669 | CAMTA1 | c.872A>G (p.Glu291Gly) c.*723A>G (n.*723A>G) c.782A>G (p.Glu261Gly) c.800A>G (p.Glu267Gly) c.*641A>G (n.*641A>G) c.860A>G (p.Glu287Gly) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7663419A>T | CA338121666 | CAMTA1 | c.872A>T (p.Glu291Val) c.*723A>T (n.*723A>T) c.782A>T (p.Glu261Val) c.800A>T (p.Glu267Val) c.*641A>T (n.*641A>T) c.860A>T (p.Glu287Val) | |
1 | g.7663420G>A | CA17243839 | CAMTA1 | c.873G>A (p.Glu291=) c.*724G>A (n.*724G>A) c.783G>A (p.Glu261=) c.801G>A (p.Glu267=) c.*642G>A (n.*642G>A) c.861G>A (p.Glu287=) | dbSNP gnomAD v4 |
1 | g.7663420G>C | CA338121671 | CAMTA1 | c.873G>C (p.Glu291Asp) c.*724G>C (n.*724G>C) c.783G>C (p.Glu261Asp) c.801G>C (p.Glu267Asp) c.*642G>C (n.*642G>C) c.861G>C (p.Glu287Asp) | |
1 | g.7663420G= | CA1152023607 | CAMTA1 | c.873G= (p.Glu291=) c.*724G= (n.*724G=) c.783G= (p.Glu261=) c.801G= (p.Glu267=) c.*642G= (n.*642G=) c.861G= (p.Glu287=) | |
1 | g.7663420G>T | CA338121673 | CAMTA1 | c.873G>T (p.Glu291Asp) c.*724G>T (n.*724G>T) c.783G>T (p.Glu261Asp) c.801G>T (p.Glu267Asp) c.*642G>T (n.*642G>T) c.861G>T (p.Glu287Asp) | |
1 | g.7663421C>A | CA338121675 | CAMTA1 | c.874C>A (p.Pro292Thr) c.*725C>A (n.*725C>A) c.784C>A (p.Pro262Thr) c.802C>A (p.Pro268Thr) c.*643C>A (n.*643C>A) c.862C>A (p.Pro288Thr) | gnomAD v4 |
1 | g.7663421C>G | CA338121678 | CAMTA1 | c.874C>G (p.Pro292Ala) c.*725C>G (n.*725C>G) c.784C>G (p.Pro262Ala) c.802C>G (p.Pro268Ala) c.*643C>G (n.*643C>G) c.862C>G (p.Pro288Ala) | |
1 | g.7663421C>T | CA338121679 | CAMTA1 | c.874C>T (p.Pro292Ser) c.*725C>T (n.*725C>T) c.784C>T (p.Pro262Ser) c.802C>T (p.Pro268Ser) c.*643C>T (n.*643C>T) c.862C>T (p.Pro288Ser) | gnomAD v4 |
1 | g.7663422C>A | CA338121681 | CAMTA1 | c.875C>A (p.Pro292Gln) c.*726C>A (n.*726C>A) c.785C>A (p.Pro262Gln) c.803C>A (p.Pro268Gln) c.*644C>A (n.*644C>A) c.863C>A (p.Pro288Gln) | gnomAD v4 |
1 | g.7663422C= | CA1152023608 | CAMTA1 | c.875C= (p.Pro292=) c.*726C= (n.*726C=) c.785C= (p.Pro262=) c.803C= (p.Pro268=) c.*644C= (n.*644C=) c.863C= (p.Pro288=) | |
1 | g.7663422C>G | CA338121684 | CAMTA1 | c.875C>G (p.Pro292Arg) c.*726C>G (n.*726C>G) c.785C>G (p.Pro262Arg) c.803C>G (p.Pro268Arg) c.*644C>G (n.*644C>G) c.863C>G (p.Pro288Arg) | |
1 | g.7663422C>T | CA566313 | CAMTA1 | c.875C>T (p.Pro292Leu) c.*726C>T (n.*726C>T) c.785C>T (p.Pro262Leu) c.803C>T (p.Pro268Leu) c.*644C>T (n.*644C>T) c.863C>T (p.Pro288Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.7663423A>C | CA416026360 | CAMTA1 | c.876A>C (p.Pro292=) c.*727A>C (n.*727A>C) c.786A>C (p.Pro262=) c.804A>C (p.Pro268=) c.*645A>C (n.*645A>C) c.864A>C (p.Pro288=) | |
1 | g.7663423A>G | CA416026362 | CAMTA1 | c.876A>G (p.Pro292=) c.*727A>G (n.*727A>G) c.786A>G (p.Pro262=) c.804A>G (p.Pro268=) c.*645A>G (n.*645A>G) c.864A>G (p.Pro288=) | |
1 | g.7663423A>T | CA416026361 | CAMTA1 | c.876A>T (p.Pro292=) c.*727A>T (n.*727A>T) c.786A>T (p.Pro262=) c.804A>T (p.Pro268=) c.*645A>T (n.*645A>T) c.864A>T (p.Pro288=) | |
1 | g.7663424C>A | CA416026363 | CAMTA1 | c.877C>A (p.Arg293=) c.*728C>A (n.*728C>A) c.787C>A (p.Arg263=) c.805C>A (p.Arg269=) c.*646C>A (n.*646C>A) c.865C>A (p.Arg289=) | gnomAD v4 |
1 | g.7663424C= | CA1152023609 | CAMTA1 | c.877C= (p.Arg293=) c.*728C= (n.*728C=) c.787C= (p.Arg263=) c.805C= (p.Arg269=) c.*646C= (n.*646C=) c.865C= (p.Arg289=) | |
1 | g.7663424C>G | CA338121690 | CAMTA1 | c.877C>G (p.Arg293Gly) c.*728C>G (n.*728C>G) c.787C>G (p.Arg263Gly) c.805C>G (p.Arg269Gly) c.*646C>G (n.*646C>G) c.865C>G (p.Arg289Gly) | |
1 | g.7663424C>T | CA338121691 | CAMTA1 | c.877C>T (p.Arg293Trp) c.*728C>T (n.*728C>T) c.787C>T (p.Arg263Trp) c.805C>T (p.Arg269Trp) c.*646C>T (n.*646C>T) c.865C>T (p.Arg289Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.7663425G>A | CA566314 | CAMTA1 | c.878G>A (p.Arg293Gln) c.*729G>A (n.*729G>A) c.788G>A (p.Arg263Gln) c.806G>A (p.Arg269Gln) c.*647G>A (n.*647G>A) c.866G>A (p.Arg289Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.7663425G>C | CA338121698 | CAMTA1 | c.878G>C (p.Arg293Pro) c.*729G>C (n.*729G>C) c.788G>C (p.Arg263Pro) c.806G>C (p.Arg269Pro) c.*647G>C (n.*647G>C) c.866G>C (p.Arg289Pro) | |
1 | g.7663425G= | CA1152023610 | CAMTA1 | c.878G= (p.Arg293=) c.*729G= (n.*729G=) c.788G= (p.Arg263=) c.806G= (p.Arg269=) c.*647G= (n.*647G=) c.866G= (p.Arg289=) | |
1 | g.7663425G>T | CA338121701 | CAMTA1 | c.878G>T (p.Arg293Leu) c.*729G>T (n.*729G>T) c.788G>T (p.Arg263Leu) c.806G>T (p.Arg269Leu) c.*647G>T (n.*647G>T) c.866G>T (p.Arg289Leu) | gnomAD v4 |
1 | g.7663426G>A | CA416026364 | CAMTA1 | c.879G>A (p.Arg293=) c.*730G>A (n.*730G>A) c.789G>A (p.Arg263=) c.807G>A (p.Arg269=) c.*648G>A (n.*648G>A) c.867G>A (p.Arg289=) | |
1 | g.7663426G>C | CA416026365 | CAMTA1 | c.879G>C (p.Arg293=) c.*730G>C (n.*730G>C) c.789G>C (p.Arg263=) c.807G>C (p.Arg269=) c.*648G>C (n.*648G>C) c.867G>C (p.Arg289=) | |
1 | g.7663426G>T | CA416026366 | CAMTA1 | c.879G>T (p.Arg293=) c.*730G>T (n.*730G>T) c.789G>T (p.Arg263=) c.807G>T (p.Arg269=) c.*648G>T (n.*648G>T) c.867G>T (p.Arg289=) | gnomAD v4 |
1 | g.7663427A>C | CA338121708 | CAMTA1 | c.880A>C (p.Thr294Pro) c.*731A>C (n.*731A>C) c.790A>C (p.Thr264Pro) c.808A>C (p.Thr270Pro) c.*649A>C (n.*649A>C) c.868A>C (p.Thr290Pro) | |
1 | g.7663427A>G | CA338121706 | CAMTA1 | c.880A>G (p.Thr294Ala) c.*731A>G (n.*731A>G) c.790A>G (p.Thr264Ala) c.808A>G (p.Thr270Ala) c.*649A>G (n.*649A>G) c.868A>G (p.Thr290Ala) | gnomAD v4 |
1 | g.7663427A>T | CA338121704 | CAMTA1 | c.880A>T (p.Thr294Ser) c.*731A>T (n.*731A>T) c.790A>T (p.Thr264Ser) c.808A>T (p.Thr270Ser) c.*649A>T (n.*649A>T) c.868A>T (p.Thr290Ser) | |
1 | g.7663428C>A | CA338121712 | CAMTA1 | c.881C>A (p.Thr294Lys) c.*732C>A (n.*732C>A) c.791C>A (p.Thr264Lys) c.809C>A (p.Thr270Lys) c.*650C>A (n.*650C>A) c.869C>A (p.Thr290Lys) | gnomAD v4 |
1 | g.7663428C= | CA1152023612 | CAMTA1 | c.881C= (p.Thr294=) c.*732C= (n.*732C=) c.791C= (p.Thr264=) c.809C= (p.Thr270=) c.*650C= (n.*650C=) c.869C= (p.Thr290=) | |
1 | g.7663428C>G | CA338121714 | CAMTA1 | c.881C>G (p.Thr294Arg) c.*732C>G (n.*732C>G) c.791C>G (p.Thr264Arg) c.809C>G (p.Thr270Arg) c.*650C>G (n.*650C>G) c.869C>G (p.Thr290Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.7663428C>T | CA338121719 | CAMTA1 | c.881C>T (p.Thr294Ile) c.*732C>T (n.*732C>T) c.791C>T (p.Thr264Ile) c.809C>T (p.Thr270Ile) c.*650C>T (n.*650C>T) c.869C>T (p.Thr290Ile) | |
1 | g.7663428_7663429delinsCA | CA1152023611 | CAMTA1 | c.881_882delinsCA (p.Thr294=) c.*732_*733delinsCA (n.*732_*733delinsCA) c.791_792delinsCA (p.Thr264=) c.809_810delinsCA (p.Thr270=) c.*650_*651delinsCA (n.*650_*651delinsCA) c.869_870delinsCA (p.Thr290=) | |
1 | g.7663429del | CA10602797 | CAMTA1 | c.882del (p.Tyr297ThrfsTer?) c.*733del (n.*733del) c.792del (p.Tyr267ThrfsTer?) c.810del (p.Tyr273ThrfsTer?) c.*651del (n.*651del) c.870del (p.Tyr293ThrfsTer?) | ClinVar dbSNP gnomAD v4 |
1 | g.7663429A= | CA1152023613 | CAMTA1 | c.882A= (p.Thr294=) c.*733A= (n.*733A=) c.792A= (p.Thr264=) c.810A= (p.Thr270=) c.*651A= (n.*651A=) c.870A= (p.Thr290=) | |
1 | g.7663429A>C | CA416026367 | CAMTA1 | c.882A>C (p.Thr294=) c.*733A>C (n.*733A>C) c.792A>C (p.Thr264=) c.810A>C (p.Thr270=) c.*651A>C (n.*651A>C) c.870A>C (p.Thr290=) | gnomAD v4 |
1 | g.7663429A>G | CA416026368 | CAMTA1 | c.882A>G (p.Thr294=) c.*733A>G (n.*733A>G) c.792A>G (p.Thr264=) c.810A>G (p.Thr270=) c.*651A>G (n.*651A>G) c.870A>G (p.Thr290=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.7663429A>T | CA416026369 | CAMTA1 | c.882A>T (p.Thr294=) c.*733A>T (n.*733A>T) c.792A>T (p.Thr264=) c.810A>T (p.Thr270=) c.*651A>T (n.*651A>T) c.870A>T (p.Thr290=) | |
1 | g.7663429_7663430insCG | CA16617188 | CAMTA1 | c.882_883insCG (p.Gly295ArgfsTer?) c.*733_*734insCG (n.*733_*734insCG) c.792_793insCG (p.Gly265ArgfsTer?) c.810_811insCG (p.Gly271ArgfsTer?) c.*651_*652insCG (n.*651_*652insCG) c.870_871insCG (p.Gly291ArgfsTer?) | ClinVar dbSNP |
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.7663441dup | CA2840116652 | CAMTA1 | c.894dup (p.Ser299GlufsTer9) c.*745dup (n.*745dup) c.804dup (p.Ser269GlufsTer9) c.822dup (p.Ser275GlufsTer9) c.*663dup (n.*663dup) c.882dup (p.Ser295GlufsTer9) | |
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) | |
1 | g.7663442A>G | CA338121797 | CAMTA1 | c.895A>G (p.Ser299Gly) c.*746A>G (n.*746A>G) c.805A>G (p.Ser269Gly) c.823A>G (p.Ser275Gly) c.*664A>G (n.*664A>G) c.883A>G (p.Ser295Gly) | gnomAD v4 |
1 | g.7663442A>T | CA338121799 | CAMTA1 | c.895A>T (p.Ser299Cys) c.*746A>T (n.*746A>T) c.805A>T (p.Ser269Cys) c.823A>T (p.Ser275Cys) c.*664A>T (n.*664A>T) c.883A>T (p.Ser295Cys) | |
1 | g.7663443G>A | CA338121802 | CAMTA1 | c.896G>A (p.Ser299Asn) c.*747G>A (n.*747G>A) c.806G>A (p.Ser269Asn) c.824G>A (p.Ser275Asn) c.*665G>A (n.*665G>A) c.884G>A (p.Ser295Asn) | gnomAD v4 |
1 | g.7663443G>C | CA338121805 | CAMTA1 | c.896G>C (p.Ser299Thr) c.*747G>C (n.*747G>C) c.806G>C (p.Ser269Thr) c.824G>C (p.Ser275Thr) c.*665G>C (n.*665G>C) c.884G>C (p.Ser295Thr) | |
1 | g.7663443G= | CA1152023625 | CAMTA1 | c.896G= (p.Ser299=) c.*747G= (n.*747G=) c.806G= (p.Ser269=) c.824G= (p.Ser275=) c.*665G= (n.*665G=) c.884G= (p.Ser295=) | |
1 | g.7663443G>T | CA338121807 | CAMTA1 | c.896G>T (p.Ser299Ile) c.*747G>T (n.*747G>T) c.806G>T (p.Ser269Ile) c.824G>T (p.Ser275Ile) c.*665G>T (n.*665G>T) c.884G>T (p.Ser295Ile) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7663444C>A | CA338121809 | CAMTA1 | c.897C>A (p.Ser299Arg) c.*748C>A (n.*748C>A) c.807C>A (p.Ser269Arg) c.825C>A (p.Ser275Arg) c.*666C>A (n.*666C>A) c.885C>A (p.Ser295Arg) | gnomAD v4 |
1 | g.7663444C= | CA1152023626 | CAMTA1 | c.897C= (p.Ser299=) c.*748C= (n.*748C=) c.807C= (p.Ser269=) c.825C= (p.Ser275=) c.*666C= (n.*666C=) c.885C= (p.Ser295=) | |
1 | g.7663444C>G | CA338121810 | CAMTA1 | c.897C>G (p.Ser299Arg) c.*748C>G (n.*748C>G) c.807C>G (p.Ser269Arg) c.825C>G (p.Ser275Arg) c.*666C>G (n.*666C>G) c.885C>G (p.Ser295Arg) | |
1 | g.7663444C>T | CA416026378 | CAMTA1 | c.897C>T (p.Ser299=) c.*748C>T (n.*748C>T) c.807C>T (p.Ser269=) c.825C>T (p.Ser275=) c.*666C>T (n.*666C>T) c.885C>T (p.Ser295=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7663445C>A | CA338121814 | CAMTA1 | c.898C>A (p.His300Asn) c.*749C>A (n.*749C>A) c.808C>A (p.His270Asn) c.826C>A (p.His276Asn) c.*667C>A (n.*667C>A) c.886C>A (p.His296Asn) | |
1 | g.7663445C>G | CA338121817 | CAMTA1 | c.898C>G (p.His300Asp) c.*749C>G (n.*749C>G) c.808C>G (p.His270Asp) c.826C>G (p.His276Asp) c.*667C>G (n.*667C>G) c.886C>G (p.His296Asp) | |
1 | g.7663445C>T | CA338121821 | CAMTA1 | c.898C>T (p.His300Tyr) c.*749C>T (n.*749C>T) c.808C>T (p.His270Tyr) c.826C>T (p.His276Tyr) c.*667C>T (n.*667C>T) c.886C>T (p.His296Tyr) | gnomAD v4 |
1 | g.7663446A>C | CA338121823 | CAMTA1 | c.899A>C (p.His300Pro) c.*750A>C (n.*750A>C) c.809A>C (p.His270Pro) c.827A>C (p.His276Pro) c.*668A>C (n.*668A>C) c.887A>C (p.His296Pro) | |
1 | g.7663446A>G | CA338121824 | CAMTA1 | c.899A>G (p.His300Arg) c.*750A>G (n.*750A>G) c.809A>G (p.His270Arg) c.827A>G (p.His276Arg) c.*668A>G (n.*668A>G) c.887A>G (p.His296Arg) | |
1 | g.7663446A>T | CA338121825 | CAMTA1 | c.899A>T (p.His300Leu) c.*750A>T (n.*750A>T) c.809A>T (p.His270Leu) c.827A>T (p.His276Leu) c.*668A>T (n.*668A>T) c.887A>T (p.His296Leu) | gnomAD v4 |
1 | g.7663447C>A | CA338121826 | CAMTA1 | c.900C>A (p.His300Gln) c.*751C>A (n.*751C>A) c.810C>A (p.His270Gln) c.828C>A (p.His276Gln) c.*669C>A (n.*669C>A) c.888C>A (p.His296Gln) | gnomAD v4 |
1 | g.7663447C>G | CA338121827 | CAMTA1 | c.900C>G (p.His300Gln) c.*751C>G (n.*751C>G) c.810C>G (p.His270Gln) c.828C>G (p.His276Gln) c.*669C>G (n.*669C>G) c.888C>G (p.His296Gln) | |
1 | g.7663447C>T | CA416026379 | CAMTA1 | c.900C>T (p.His300=) c.*751C>T (n.*751C>T) c.810C>T (p.His270=) c.828C>T (p.His276=) c.*669C>T (n.*669C>T) c.888C>T (p.His296=) | |
1 | g.7663448T>A | CA338121828 | CAMTA1 | c.901T>A (p.Ser301Thr) c.*752T>A (n.*752T>A) c.811T>A (p.Ser271Thr) c.829T>A (p.Ser277Thr) c.*670T>A (n.*670T>A) c.889T>A (p.Ser297Thr) | |
1 | g.7663448T>C | CA338121829 | CAMTA1 | c.901T>C (p.Ser301Pro) c.*752T>C (n.*752T>C) c.811T>C (p.Ser271Pro) c.829T>C (p.Ser277Pro) c.*670T>C (n.*670T>C) c.889T>C (p.Ser297Pro) | |
1 | g.7663448T>G | CA338121833 | CAMTA1 | c.901T>G (p.Ser301Ala) c.*752T>G (n.*752T>G) c.811T>G (p.Ser271Ala) c.829T>G (p.Ser277Ala) c.*670T>G (n.*670T>G) c.889T>G (p.Ser297Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663448T= | CA1152023627 | CAMTA1 | c.901T= (p.Ser301=) c.*752T= (n.*752T=) c.811T= (p.Ser271=) c.829T= (p.Ser277=) c.*670T= (n.*670T=) c.889T= (p.Ser297=) | |
1 | g.7663449C>A | CA338121840 | CAMTA1 | c.902C>A (p.Ser301Ter) c.*753C>A (n.*753C>A) c.812C>A (p.Ser271Ter) c.830C>A (p.Ser277Ter) c.*671C>A (n.*671C>A) c.890C>A (p.Ser297Ter) | gnomAD v4 |
1 | g.7663449C= | CA1148233100 | CAMTA1 | c.902C= (p.Ser301=) c.*753C= (n.*753C=) c.812C= (p.Ser271=) c.830C= (p.Ser277=) c.*671C= (n.*671C=) c.890C= (p.Ser297=) | |
1 | g.7663449C>G | CA566323 | CAMTA1 | c.902C>G (p.Ser301Trp) c.*753C>G (n.*753C>G) c.812C>G (p.Ser271Trp) c.830C>G (p.Ser277Trp) c.*671C>G (n.*671C>G) c.890C>G (p.Ser297Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663449C>T | CA338121841 | CAMTA1 | c.902C>T (p.Ser301Leu) c.*753C>T (n.*753C>T) c.812C>T (p.Ser271Leu) c.830C>T (p.Ser277Leu) c.*671C>T (n.*671C>T) c.890C>T (p.Ser297Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663450G>A | CA566325 | CAMTA1 | c.903G>A (p.Ser301=) c.*754G>A (n.*754G>A) c.813G>A (p.Ser271=) c.831G>A (p.Ser277=) c.*672G>A (n.*672G>A) c.891G>A (p.Ser297=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663450G>C | CA566324 | CAMTA1 | c.903G>C (p.Ser301=) c.*754G>C (n.*754G>C) c.813G>C (p.Ser271=) c.831G>C (p.Ser277=) c.*672G>C (n.*672G>C) c.891G>C (p.Ser297=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663450G= | CA1144105843 | CAMTA1 | c.903G= (p.Ser301=) c.*754G= (n.*754G=) c.813G= (p.Ser271=) c.831G= (p.Ser277=) c.*672G= (n.*672G=) c.891G= (p.Ser297=) | |
1 | g.7663450G>T | CA416026380 | CAMTA1 | c.903G>T (p.Ser301=) c.*754G>T (n.*754G>T) c.813G>T (p.Ser271=) c.831G>T (p.Ser277=) c.*672G>T (n.*672G>T) c.891G>T (p.Ser297=) | gnomAD v4 |
1 | g.7663451G>A | CA338121844 | CAMTA1 | c.904G>A (p.Glu302Lys) c.*755G>A (n.*755G>A) c.814G>A (p.Glu272Lys) c.832G>A (p.Glu278Lys) c.*673G>A (n.*673G>A) c.892G>A (p.Glu298Lys) | |
1 | g.7663451G>C | CA338121847 | CAMTA1 | c.904G>C (p.Glu302Gln) c.*755G>C (n.*755G>C) c.814G>C (p.Glu272Gln) c.832G>C (p.Glu278Gln) c.*673G>C (n.*673G>C) c.892G>C (p.Glu298Gln) | |
1 | g.7663451G>T | CA338121849 | CAMTA1 | c.904G>T (p.Glu302Ter) c.*755G>T (n.*755G>T) c.814G>T (p.Glu272Ter) c.832G>T (p.Glu278Ter) c.*673G>T (n.*673G>T) c.892G>T (p.Glu298Ter) | |
1 | g.7663452A>C | CA338121852 | CAMTA1 | c.905A>C (p.Glu302Ala) c.*756A>C (n.*756A>C) c.815A>C (p.Glu272Ala) c.833A>C (p.Glu278Ala) c.*674A>C (n.*674A>C) c.893A>C (p.Glu298Ala) | |
1 | g.7663452A>G | CA338121855 | CAMTA1 | c.905A>G (p.Glu302Gly) c.*756A>G (n.*756A>G) c.815A>G (p.Glu272Gly) c.833A>G (p.Glu278Gly) c.*674A>G (n.*674A>G) c.893A>G (p.Glu298Gly) | gnomAD v4 |
1 | g.7663452A>T | CA338121857 | CAMTA1 | c.905A>T (p.Glu302Val) c.*756A>T (n.*756A>T) c.815A>T (p.Glu272Val) c.833A>T (p.Glu278Val) c.*674A>T (n.*674A>T) c.893A>T (p.Glu298Val) | |
1 | g.7663453G>A | CA416026381 | CAMTA1 | c.906G>A (p.Glu302=) c.*757G>A (n.*757G>A) c.816G>A (p.Glu272=) c.834G>A (p.Glu278=) c.*675G>A (n.*675G>A) c.894G>A (p.Glu298=) | gnomAD v4 |
1 | g.7663453G>C | CA338121872 | CAMTA1 | c.906G>C (p.Glu302Asp) c.*757G>C (n.*757G>C) c.816G>C (p.Glu272Asp) c.834G>C (p.Glu278Asp) c.*675G>C (n.*675G>C) c.894G>C (p.Glu298Asp) | |
1 | g.7663453G>T | CA338121860 | CAMTA1 | c.906G>T (p.Glu302Asp) c.*757G>T (n.*757G>T) c.816G>T (p.Glu272Asp) c.834G>T (p.Glu278Asp) c.*675G>T (n.*675G>T) c.894G>T (p.Glu298Asp) | |
1 | g.7663454G>A | CA338121876 | CAMTA1 | c.907G>A (p.Val303Met) c.*758G>A (n.*758G>A) c.817G>A (p.Val273Met) c.835G>A (p.Val279Met) c.*676G>A (n.*676G>A) c.895G>A (p.Val299Met) | gnomAD v4 |
1 | g.7663454G>C | CA338121878 | CAMTA1 | c.907G>C (p.Val303Leu) c.*758G>C (n.*758G>C) c.817G>C (p.Val273Leu) c.835G>C (p.Val279Leu) c.*676G>C (n.*676G>C) c.895G>C (p.Val299Leu) | |
1 | g.7663454G>T | CA338121885 | CAMTA1 | c.907G>T (p.Val303Leu) c.*758G>T (n.*758G>T) c.817G>T (p.Val273Leu) c.835G>T (p.Val279Leu) c.*676G>T (n.*676G>T) c.895G>T (p.Val299Leu) | |
1 | g.7663455T>A | CA338121889 | CAMTA1 | c.908T>A (p.Val303Glu) c.*759T>A (n.*759T>A) c.818T>A (p.Val273Glu) c.836T>A (p.Val279Glu) c.*677T>A (n.*677T>A) c.896T>A (p.Val299Glu) | |
1 | g.7663455T>C | CA338121893 | CAMTA1 | c.908T>C (p.Val303Ala) c.*759T>C (n.*759T>C) c.818T>C (p.Val273Ala) c.836T>C (p.Val279Ala) c.*677T>C (n.*677T>C) c.896T>C (p.Val299Ala) | gnomAD v4 |
1 | g.7663455T>G | CA338121896 | CAMTA1 | c.908T>G (p.Val303Gly) c.*759T>G (n.*759T>G) c.818T>G (p.Val273Gly) c.836T>G (p.Val279Gly) c.*677T>G (n.*677T>G) c.896T>G (p.Val299Gly) | dbSNP |
1 | g.7663455T= | CA1152023628 | CAMTA1 | c.908T= (p.Val303=) c.*759T= (n.*759T=) c.818T= (p.Val273=) c.836T= (p.Val279=) c.*677T= (n.*677T=) c.896T= (p.Val299=) | |
1 | g.7663456G>A | CA416026382 | CAMTA1 | c.909G>A (p.Val303=) c.*760G>A (n.*760G>A) c.819G>A (p.Val273=) c.837G>A (p.Val279=) c.*678G>A (n.*678G>A) c.897G>A (p.Val299=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7663456G>C | CA416026383 | CAMTA1 | c.909G>C (p.Val303=) c.*760G>C (n.*760G>C) c.819G>C (p.Val273=) c.837G>C (p.Val279=) c.*678G>C (n.*678G>C) c.897G>C (p.Val299=) | |
1 | g.7663456G= | CA1152023629 | CAMTA1 | c.909G= (p.Val303=) c.*760G= (n.*760G=) c.819G= (p.Val273=) c.837G= (p.Val279=) c.*678G= (n.*678G=) c.897G= (p.Val299=) | |
1 | g.7663456G>T | CA416026384 | CAMTA1 | c.909G>T (p.Val303=) c.*760G>T (n.*760G>T) c.819G>T (p.Val273=) c.837G>T (p.Val279=) c.*678G>T (n.*678G>T) c.897G>T (p.Val299=) | |
1 | g.7663457C>A | CA338121905 | CAMTA1 | c.910C>A (p.Gln304Lys) c.*761C>A (n.*761C>A) c.820C>A (p.Gln274Lys) c.838C>A (p.Gln280Lys) c.*679C>A (n.*679C>A) c.898C>A (p.Gln300Lys) | gnomAD v4 |
1 | g.7663457C= | CA1152023630 | CAMTA1 | c.910C= (p.Gln304=) c.*761C= (n.*761C=) c.820C= (p.Gln274=) c.838C= (p.Gln280=) c.*679C= (n.*679C=) c.898C= (p.Gln300=) | |
1 | g.7663457C>G | CA338121900 | CAMTA1 | c.910C>G (p.Gln304Glu) c.*761C>G (n.*761C>G) c.820C>G (p.Gln274Glu) c.838C>G (p.Gln280Glu) c.*679C>G (n.*679C>G) c.898C>G (p.Gln300Glu) | |
1 | g.7663457C>T | CA17243904 | CAMTA1 | c.910C>T (p.Gln304Ter) c.*761C>T (n.*761C>T) c.820C>T (p.Gln274Ter) c.838C>T (p.Gln280Ter) c.*679C>T (n.*679C>T) c.898C>T (p.Gln300Ter) | dbSNP gnomAD v4 |
1 | g.7663458A= | CA1149061314 | CAMTA1 | c.911A= (p.Gln304=) c.*762A= (n.*762A=) c.821A= (p.Gln274=) c.839A= (p.Gln280=) c.*680A= (n.*680A=) c.899A= (p.Gln300=) | |
1 | g.7663458A>C | CA566326 | CAMTA1 | c.911A>C (p.Gln304Pro) c.*762A>C (n.*762A>C) c.821A>C (p.Gln274Pro) c.839A>C (p.Gln280Pro) c.*680A>C (n.*680A>C) c.899A>C (p.Gln300Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663458A>G | CA338121910 | CAMTA1 | c.911A>G (p.Gln304Arg) c.*762A>G (n.*762A>G) c.821A>G (p.Gln274Arg) c.839A>G (p.Gln280Arg) c.*680A>G (n.*680A>G) c.899A>G (p.Gln300Arg) | |
1 | g.7663458A>T | CA338121912 | CAMTA1 | c.911A>T (p.Gln304Leu) c.*762A>T (n.*762A>T) c.821A>T (p.Gln274Leu) c.839A>T (p.Gln280Leu) c.*680A>T (n.*680A>T) c.899A>T (p.Gln300Leu) | |
1 | g.7663459G>A | CA17243911 | CAMTA1 | c.912G>A (p.Gln304=) c.*763G>A (n.*763G>A) c.822G>A (p.Gln274=) c.840G>A (p.Gln280=) c.*681G>A (n.*681G>A) c.900G>A (p.Gln300=) | dbSNP gnomAD v4 |
1 | g.7663459G>C | CA338121913 | CAMTA1 | c.912G>C (p.Gln304His) c.*763G>C (n.*763G>C) c.822G>C (p.Gln274His) c.840G>C (p.Gln280His) c.*681G>C (n.*681G>C) c.900G>C (p.Gln300His) | |
1 | g.7663459G= | CA1152023631 | CAMTA1 | c.912G= (p.Gln304=) c.*763G= (n.*763G=) c.822G= (p.Gln274=) c.840G= (p.Gln280=) c.*681G= (n.*681G=) c.900G= (p.Gln300=) | |
1 | g.7663459G>T | CA338121914 | CAMTA1 | c.912G>T (p.Gln304His) c.*763G>T (n.*763G>T) c.822G>T (p.Gln274His) c.840G>T (p.Gln280His) c.*681G>T (n.*681G>T) c.900G>T (p.Gln300His) | |
1 | g.7663460C>A | CA338121915 | CAMTA1 | c.913C>A (p.His305Asn) c.*764C>A (n.*764C>A) c.823C>A (p.His275Asn) c.841C>A (p.His281Asn) c.*682C>A (n.*682C>A) c.901C>A (p.His301Asn) | gnomAD v4 |
1 | g.7663460C>G | CA338121917 | CAMTA1 | c.913C>G (p.His305Asp) c.*764C>G (n.*764C>G) c.823C>G (p.His275Asp) c.841C>G (p.His281Asp) c.*682C>G (n.*682C>G) c.901C>G (p.His301Asp) | |
1 | g.7663460C>T | CA338121916 | CAMTA1 | c.913C>T (p.His305Tyr) c.*764C>T (n.*764C>T) c.823C>T (p.His275Tyr) c.841C>T (p.His281Tyr) c.*682C>T (n.*682C>T) c.901C>T (p.His301Tyr) | gnomAD v4 |
1 | g.7663461A>C | CA338121919 | CAMTA1 | c.914A>C (p.His305Pro) c.*765A>C (n.*765A>C) c.824A>C (p.His275Pro) c.842A>C (p.His281Pro) c.*683A>C (n.*683A>C) c.902A>C (p.His301Pro) | |
1 | g.7663461A>G | CA338121921 | CAMTA1 | c.914A>G (p.His305Arg) c.*765A>G (n.*765A>G) c.824A>G (p.His275Arg) c.842A>G (p.His281Arg) c.*683A>G (n.*683A>G) c.902A>G (p.His301Arg) | |
1 | g.7663461A>T | CA338121924 | CAMTA1 | c.914A>T (p.His305Leu) c.*765A>T (n.*765A>T) c.824A>T (p.His275Leu) c.842A>T (p.His281Leu) c.*683A>T (n.*683A>T) c.902A>T (p.His301Leu) | |
1 | g.7663462C>A | CA338121928 | CAMTA1 | c.915C>A (p.His305Gln) c.*766C>A (n.*766C>A) c.825C>A (p.His275Gln) c.843C>A (p.His281Gln) c.*684C>A (n.*684C>A) c.903C>A (p.His301Gln) | gnomAD v4 |
1 | g.7663462C>G | CA338121931 | CAMTA1 | c.915C>G (p.His305Gln) c.*766C>G (n.*766C>G) c.825C>G (p.His275Gln) c.843C>G (p.His281Gln) c.*684C>G (n.*684C>G) c.903C>G (p.His301Gln) | |
1 | g.7663462C>T | CA416026385 | CAMTA1 | c.915C>T (p.His305=) c.*766C>T (n.*766C>T) c.825C>T (p.His275=) c.843C>T (p.His281=) c.*684C>T (n.*684C>T) c.903C>T (p.His301=) | |
1 | g.7663463A>C | CA338121933 | CAMTA1 | c.916A>C (p.Asn306His) c.*767A>C (n.*767A>C) c.826A>C (p.Asn276His) c.844A>C (p.Asn282His) c.*685A>C (n.*685A>C) c.904A>C (p.Asn302His) | |
1 | g.7663463A>G | CA338121945 | CAMTA1 | c.916A>G (p.Asn306Asp) c.*767A>G (n.*767A>G) c.826A>G (p.Asn276Asp) c.844A>G (p.Asn282Asp) c.*685A>G (n.*685A>G) c.904A>G (p.Asn302Asp) | |
1 | g.7663463A>T | CA338121948 | CAMTA1 | c.916A>T (p.Asn306Tyr) c.*767A>T (n.*767A>T) c.826A>T (p.Asn276Tyr) c.844A>T (p.Asn282Tyr) c.*685A>T (n.*685A>T) c.904A>T (p.Asn302Tyr) | |
1 | g.7663464A= | CA1152023632 | CAMTA1 | c.917A= (p.Asn306=) c.*768A= (n.*768A=) c.827A= (p.Asn276=) c.845A= (p.Asn282=) c.*686A= (n.*686A=) c.905A= (p.Asn302=) | |
1 | g.7663464A>C | CA338121952 | CAMTA1 | c.917A>C (p.Asn306Thr) c.*768A>C (n.*768A>C) c.827A>C (p.Asn276Thr) c.845A>C (p.Asn282Thr) c.*686A>C (n.*686A>C) c.905A>C (p.Asn302Thr) | |
1 | g.7663464A>G | CA338121955 | CAMTA1 | c.917A>G (p.Asn306Ser) c.*768A>G (n.*768A>G) c.827A>G (p.Asn276Ser) c.845A>G (p.Asn282Ser) c.*686A>G (n.*686A>G) c.905A>G (p.Asn302Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7663464A>T | CA338121966 | CAMTA1 | c.917A>T (p.Asn306Ile) c.*768A>T (n.*768A>T) c.827A>T (p.Asn276Ile) c.845A>T (p.Asn282Ile) c.*686A>T (n.*686A>T) c.905A>T (p.Asn302Ile) | |
1 | g.7663465T>A | CA338121967 | CAMTA1 | c.918T>A (p.Asn306Lys) c.*769T>A (n.*769T>A) c.828T>A (p.Asn276Lys) c.846T>A (p.Asn282Lys) c.*687T>A (n.*687T>A) c.906T>A (p.Asn302Lys) | |
1 | g.7663465T>C | CA416026386 | CAMTA1 | c.918T>C (p.Asn306=) c.*769T>C (n.*769T>C) c.828T>C (p.Asn276=) c.846T>C (p.Asn282=) c.*687T>C (n.*687T>C) c.906T>C (p.Asn302=) | |
1 | g.7663465T>G | CA338121968 | CAMTA1 | c.918T>G (p.Asn306Lys) c.*769T>G (n.*769T>G) c.828T>G (p.Asn276Lys) c.846T>G (p.Asn282Lys) c.*687T>G (n.*687T>G) c.906T>G (p.Asn302Lys) | |
1 | g.7663466G>A | CA338121974 | CAMTA1 | c.919G>A (p.Asp307Asn) c.*770G>A (n.*770G>A) c.829G>A (p.Asp277Asn) c.847G>A (p.Asp283Asn) c.*688G>A (n.*688G>A) c.907G>A (p.Asp303Asn) | gnomAD v4 |
1 | g.7663466G>C | CA338121971 | CAMTA1 | c.919G>C (p.Asp307His) c.*770G>C (n.*770G>C) c.829G>C (p.Asp277His) c.847G>C (p.Asp283His) c.*688G>C (n.*688G>C) c.907G>C (p.Asp303His) | |
1 | g.7663466G= | CA1152023633 | CAMTA1 | c.919G= (p.Asp307=) c.*770G= (n.*770G=) c.829G= (p.Asp277=) c.847G= (p.Asp283=) c.*688G= (n.*688G=) c.907G= (p.Asp303=) | |
1 | g.7663466G>T | CA566327 | CAMTA1 | c.919G>T (p.Asp307Tyr) c.*770G>T (n.*770G>T) c.829G>T (p.Asp277Tyr) c.847G>T (p.Asp283Tyr) c.*688G>T (n.*688G>T) c.907G>T (p.Asp303Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663467A>C | CA338121987 | CAMTA1 | c.920A>C (p.Asp307Ala) c.*771A>C (n.*771A>C) c.830A>C (p.Asp277Ala) c.848A>C (p.Asp283Ala) c.*689A>C (n.*689A>C) c.908A>C (p.Asp303Ala) | |
1 | g.7663467A>G | CA338121988 | CAMTA1 | c.920A>G (p.Asp307Gly) c.*771A>G (n.*771A>G) c.830A>G (p.Asp277Gly) c.848A>G (p.Asp283Gly) c.*689A>G (n.*689A>G) c.908A>G (p.Asp303Gly) | gnomAD v4 |
1 | g.7663467A>T | CA338121995 | CAMTA1 | c.920A>T (p.Asp307Val) c.*771A>T (n.*771A>T) c.830A>T (p.Asp277Val) c.848A>T (p.Asp283Val) c.*689A>T (n.*689A>T) c.908A>T (p.Asp303Val) | |
1 | g.7663468C>A | CA338122001 | CAMTA1 | c.921C>A (p.Asp307Glu) c.*772C>A (n.*772C>A) c.831C>A (p.Asp277Glu) c.849C>A (p.Asp283Glu) c.*690C>A (n.*690C>A) c.909C>A (p.Asp303Glu) | gnomAD v4 |
1 | g.7663468C= | CA1152023634 | CAMTA1 | c.921C= (p.Asp307=) c.*772C= (n.*772C=) c.831C= (p.Asp277=) c.849C= (p.Asp283=) c.*690C= (n.*690C=) c.909C= (p.Asp303=) | |
1 | g.7663468C>G | CA338122005 | CAMTA1 | c.921C>G (p.Asp307Glu) c.*772C>G (n.*772C>G) c.831C>G (p.Asp277Glu) c.849C>G (p.Asp283Glu) c.*690C>G (n.*690C>G) c.909C>G (p.Asp303Glu) | |
1 | g.7663468C>T | CA416026387 | CAMTA1 | c.921C>T (p.Asp307=) c.*772C>T (n.*772C>T) c.831C>T (p.Asp277=) c.849C>T (p.Asp283=) c.*690C>T (n.*690C>T) c.909C>T (p.Asp303=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7663469G>A | CA566328 | CAMTA1 | c.922G>A (p.Val308Met) c.*773G>A (n.*773G>A) c.832G>A (p.Val278Met) c.850G>A (p.Val284Met) c.*691G>A (n.*691G>A) c.910G>A (p.Val304Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663469G>C | CA338122018 | CAMTA1 | c.922G>C (p.Val308Leu) c.*773G>C (n.*773G>C) c.832G>C (p.Val278Leu) c.850G>C (p.Val284Leu) c.*691G>C (n.*691G>C) c.910G>C (p.Val304Leu) | |
1 | g.7663469G= | CA1152023635 | CAMTA1 | c.922G= (p.Val308=) c.*773G= (n.*773G=) c.832G= (p.Val278=) c.850G= (p.Val284=) c.*691G= (n.*691G=) c.910G= (p.Val304=) | |
1 | g.7663469G>T | CA338122022 | CAMTA1 | c.922G>T (p.Val308Leu) c.*773G>T (n.*773G>T) c.832G>T (p.Val278Leu) c.850G>T (p.Val284Leu) c.*691G>T (n.*691G>T) c.910G>T (p.Val304Leu) | |
1 | g.7663470T>A | CA338122025 | CAMTA1 | c.923T>A (p.Val308Glu) c.*774T>A (n.*774T>A) c.833T>A (p.Val278Glu) c.851T>A (p.Val284Glu) c.*692T>A (n.*692T>A) c.911T>A (p.Val304Glu) | |
1 | g.7663470T>C | CA338122031 | CAMTA1 | c.923T>C (p.Val308Ala) c.*774T>C (n.*774T>C) c.833T>C (p.Val278Ala) c.851T>C (p.Val284Ala) c.*692T>C (n.*692T>C) c.911T>C (p.Val304Ala) | |
1 | g.7663470T>G | CA338122033 | CAMTA1 | c.923T>G (p.Val308Gly) c.*774T>G (n.*774T>G) c.833T>G (p.Val278Gly) c.851T>G (p.Val284Gly) c.*692T>G (n.*692T>G) c.911T>G (p.Val304Gly) | |
1 | g.7663471G>A | CA416026389 | CAMTA1 | c.924G>A (p.Val308=) c.*775G>A (n.*775G>A) c.834G>A (p.Val278=) c.852G>A (p.Val284=) c.*693G>A (n.*693G>A) c.912G>A (p.Val304=) | gnomAD v4 |
1 | g.7663471G>C | CA416026390 | CAMTA1 | c.924G>C (p.Val308=) c.*775G>C (n.*775G>C) c.834G>C (p.Val278=) c.852G>C (p.Val284=) c.*693G>C (n.*693G>C) c.912G>C (p.Val304=) | |
1 | g.7663471G>T | CA416026388 | CAMTA1 | c.924G>T (p.Val308=) c.*775G>T (n.*775G>T) c.834G>T (p.Val278=) c.852G>T (p.Val284=) c.*693G>T (n.*693G>T) c.912G>T (p.Val304=) | |
1 | g.7663472T>A | CA338122036 | CAMTA1 | c.925T>A (p.Ser309Thr) c.*776T>A (n.*776T>A) c.835T>A (p.Ser279Thr) c.853T>A (p.Ser285Thr) c.*694T>A (n.*694T>A) c.913T>A (p.Ser305Thr) | |
1 | g.7663472T>C | CA338122037 | CAMTA1 | c.925T>C (p.Ser309Pro) c.*776T>C (n.*776T>C) c.835T>C (p.Ser279Pro) c.853T>C (p.Ser285Pro) c.*694T>C (n.*694T>C) c.913T>C (p.Ser305Pro) | |
1 | g.7663472T>G | CA338122040 | CAMTA1 | c.925T>G (p.Ser309Ala) c.*776T>G (n.*776T>G) c.835T>G (p.Ser279Ala) c.853T>G (p.Ser285Ala) c.*694T>G (n.*694T>G) c.913T>G (p.Ser305Ala) | |
1 | g.7663473C>A | CA338122044 | CAMTA1 | c.926C>A (p.Ser309Ter) c.*777C>A (n.*777C>A) c.836C>A (p.Ser279Ter) c.854C>A (p.Ser285Ter) c.*695C>A (n.*695C>A) c.914C>A (p.Ser305Ter) | ClinVar gnomAD v4 |
1 | g.7663473C= | CA1152023636 | CAMTA1 | c.926C= (p.Ser309=) c.*777C= (n.*777C=) c.836C= (p.Ser279=) c.854C= (p.Ser285=) c.*695C= (n.*695C=) c.914C= (p.Ser305=) | |
1 | g.7663473C>G | CA338122053 | CAMTA1 | c.926C>G (p.Ser309Trp) c.*777C>G (n.*777C>G) c.836C>G (p.Ser279Trp) c.854C>G (p.Ser285Trp) c.*695C>G (n.*695C>G) c.914C>G (p.Ser305Trp) | |
1 | g.7663473C>T | CA338122042 | CAMTA1 | c.926C>T (p.Ser309Leu) c.*777C>T (n.*777C>T) c.836C>T (p.Ser279Leu) c.854C>T (p.Ser285Leu) c.*695C>T (n.*695C>T) c.914C>T (p.Ser305Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.7663474G>A | CA566329 | CAMTA1 | c.927G>A (p.Ser309=) c.*778G>A (n.*778G>A) c.837G>A (p.Ser279=) c.855G>A (p.Ser285=) c.*696G>A (n.*696G>A) c.915G>A (p.Ser305=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663474G>C | CA416026391 | CAMTA1 | c.927G>C (p.Ser309=) c.*778G>C (n.*778G>C) c.837G>C (p.Ser279=) c.855G>C (p.Ser285=) c.*696G>C (n.*696G>C) c.915G>C (p.Ser305=) | dbSNP |
1 | g.7663474G= | CA1139990299 | CAMTA1 | c.927G= (p.Ser309=) c.*778G= (n.*778G=) c.837G= (p.Ser279=) c.855G= (p.Ser285=) c.*696G= (n.*696G=) c.915G= (p.Ser305=) | |
1 | g.7663474G>T | CA416026392 | CAMTA1 | c.927G>T (p.Ser309=) c.*778G>T (n.*778G>T) c.837G>T (p.Ser279=) c.855G>T (p.Ser285=) c.*696G>T (n.*696G>T) c.915G>T (p.Ser305=) | gnomAD v4 |
1 | g.7663475G>A | CA338122067 | CAMTA1 | c.928G>A (p.Glu310Lys) c.*779G>A (n.*779G>A) c.838G>A (p.Glu280Lys) c.856G>A (p.Glu286Lys) c.*697G>A (n.*697G>A) c.916G>A (p.Glu306Lys) | |
1 | g.7663475G>C | CA338122069 | CAMTA1 | c.928G>C (p.Glu310Gln) c.*779G>C (n.*779G>C) c.838G>C (p.Glu280Gln) c.856G>C (p.Glu286Gln) c.*697G>C (n.*697G>C) c.916G>C (p.Glu306Gln) | COSMIC |
1 | g.7663475G>T | CA338122077 | CAMTA1 | c.928G>T (p.Glu310Ter) c.*779G>T (n.*779G>T) c.838G>T (p.Glu280Ter) c.856G>T (p.Glu286Ter) c.*697G>T (n.*697G>T) c.916G>T (p.Glu306Ter) | |
1 | g.7663476A>C | CA338122080 | CAMTA1 | c.929A>C (p.Glu310Ala) c.*780A>C (n.*780A>C) c.839A>C (p.Glu280Ala) c.857A>C (p.Glu286Ala) c.*698A>C (n.*698A>C) c.917A>C (p.Glu306Ala) | |
1 | g.7663476A>G | CA338122081 | CAMTA1 | c.929A>G (p.Glu310Gly) c.*780A>G (n.*780A>G) c.839A>G (p.Glu280Gly) c.857A>G (p.Glu286Gly) c.*698A>G (n.*698A>G) c.917A>G (p.Glu306Gly) | gnomAD v4 |
1 | g.7663476A>T | CA338122082 | CAMTA1 | c.929A>T (p.Glu310Val) c.*780A>T (n.*780A>T) c.839A>T (p.Glu280Val) c.857A>T (p.Glu286Val) c.*698A>T (n.*698A>T) c.917A>T (p.Glu306Val) | |
1 | g.7663477G>A | CA416026393 | CAMTA1 | c.930G>A (p.Glu310=) c.*781G>A (n.*781G>A) c.840G>A (p.Glu280=) c.858G>A (p.Glu286=) c.*699G>A (n.*699G>A) c.918G>A (p.Glu306=) | gnomAD v4 |
1 | g.7663477G>C | CA338122083 | CAMTA1 | c.930G>C (p.Glu310Asp) c.*781G>C (n.*781G>C) c.840G>C (p.Glu280Asp) c.858G>C (p.Glu286Asp) c.*699G>C (n.*699G>C) c.918G>C (p.Glu306Asp) | |
1 | g.7663477G>T | CA338122084 | CAMTA1 | c.930G>T (p.Glu310Asp) c.*781G>T (n.*781G>T) c.840G>T (p.Glu280Asp) c.858G>T (p.Glu286Asp) c.*699G>T (n.*699G>T) c.918G>T (p.Glu306Asp) | gnomAD v4 COSMIC |
1 | g.7663478G>A | CA566330 | CAMTA1 | c.931G>A (p.Gly311Ser) c.*782G>A (n.*782G>A) c.841G>A (p.Gly281Ser) c.859G>A (p.Gly287Ser) c.*700G>A (n.*700G>A) c.919G>A (p.Gly307Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663478G>C | CA338122087 | CAMTA1 | c.931G>C (p.Gly311Arg) c.*782G>C (n.*782G>C) c.841G>C (p.Gly281Arg) c.859G>C (p.Gly287Arg) c.*700G>C (n.*700G>C) c.919G>C (p.Gly307Arg) | |
1 | g.7663478G= | CA1152023637 | CAMTA1 | c.931G= (p.Gly311=) c.*782G= (n.*782G=) c.841G= (p.Gly281=) c.859G= (p.Gly287=) c.*700G= (n.*700G=) c.919G= (p.Gly307=) | |
1 | g.7663478G>T | CA338122088 | CAMTA1 | c.931G>T (p.Gly311Cys) c.*782G>T (n.*782G>T) c.841G>T (p.Gly281Cys) c.859G>T (p.Gly287Cys) c.*700G>T (n.*700G>T) c.919G>T (p.Gly307Cys) | |
1 | g.7663479G>A | CA338122096 | CAMTA1 | c.932G>A (p.Gly311Asp) c.*783G>A (n.*783G>A) c.842G>A (p.Gly281Asp) c.860G>A (p.Gly287Asp) c.*701G>A (n.*701G>A) c.920G>A (p.Gly307Asp) | gnomAD v4 |
1 | g.7663479G>C | CA338122095 | CAMTA1 | c.932G>C (p.Gly311Ala) c.*783G>C (n.*783G>C) c.842G>C (p.Gly281Ala) c.860G>C (p.Gly287Ala) c.*701G>C (n.*701G>C) c.920G>C (p.Gly307Ala) | |
1 | g.7663479G>T | CA338122093 | CAMTA1 | c.932G>T (p.Gly311Val) c.*783G>T (n.*783G>T) c.842G>T (p.Gly281Val) c.860G>T (p.Gly287Val) c.*701G>T (n.*701G>T) c.920G>T (p.Gly307Val) | |
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 |