Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.142513504C>A | CA354796683 | ATR | c.4638G>T (p.Gln1546His) n.4667G>T c.3428G>T c.4446G>T (p.Gln1482His) n.102G>T c.4644G>T (p.Gln1548His) c.4452G>T (p.Gln1484His) n.4733G>T n.4727G>T | |
3 | g.142513504C= | CA1407011044 | ATR | c.4638G= (p.Gln1546=) n.4667G= c.3428G= c.4446G= (p.Gln1482=) n.102G= c.4644G= (p.Gln1548=) c.4452G= (p.Gln1484=) n.4733G= n.4727G= | |
3 | g.142513504C>G | CA354796684 | ATR | c.4638G>C (p.Gln1546His) n.4667G>C c.3428G>C c.4446G>C (p.Gln1482His) n.102G>C c.4644G>C (p.Gln1548His) c.4452G>C (p.Gln1484His) n.4733G>C n.4727G>C | |
3 | g.142513504C>T | CA436106244 | ATR | c.4638G>A (p.Gln1546=) n.4667G>A c.3428G>A c.4446G>A (p.Gln1482=) n.102G>A c.4644G>A (p.Gln1548=) c.4452G>A (p.Gln1484=) n.4733G>A n.4727G>A | ClinVar dbSNP gnomAD v4 |
3 | g.142513505T>A | CA354796687 | ATR | c.4637A>T (p.Gln1546Leu) n.4666A>T c.3427A>T c.4445A>T (p.Gln1482Leu) n.101A>T c.4643A>T (p.Gln1548Leu) c.4451A>T (p.Gln1484Leu) n.4732A>T n.4726A>T | |
3 | g.142513505T>C | CA354796688 | ATR | c.4637A>G (p.Gln1546Arg) n.4666A>G c.3427A>G c.4445A>G (p.Gln1482Arg) n.101A>G c.4643A>G (p.Gln1548Arg) c.4451A>G (p.Gln1484Arg) n.4732A>G n.4726A>G | |
3 | g.142513505T>G | CA354796690 | ATR | c.4637A>C (p.Gln1546Pro) n.4666A>C c.3427A>C c.4445A>C (p.Gln1482Pro) n.101A>C c.4643A>C (p.Gln1548Pro) c.4451A>C (p.Gln1484Pro) n.4732A>C n.4726A>C | ClinVar dbSNP |
3 | g.142513505T= | CA1407011045 | ATR | c.4637A= (p.Gln1546=) n.4666A= c.3427A= c.4445A= (p.Gln1482=) n.101A= c.4643A= (p.Gln1548=) c.4451A= (p.Gln1484=) n.4732A= n.4726A= | |
3 | g.142513506G>A | CA354796691 | ATR | c.4636C>T (p.Gln1546Ter) n.4665C>T c.3426C>T c.4444C>T (p.Gln1482Ter) n.100C>T c.4642C>T (p.Gln1548Ter) c.4450C>T (p.Gln1484Ter) n.4731C>T n.4725C>T | dbSNP |
3 | g.142513506G>C | CA354796693 | ATR | c.4636C>G (p.Gln1546Glu) n.4665C>G c.3426C>G c.4444C>G (p.Gln1482Glu) n.100C>G c.4642C>G (p.Gln1548Glu) c.4450C>G (p.Gln1484Glu) n.4731C>G n.4725C>G | |
3 | g.142513506G>T | CA354796694 | ATR | c.4636C>A (p.Gln1546Lys) n.4665C>A c.3426C>A c.4444C>A (p.Gln1482Lys) n.100C>A c.4642C>A (p.Gln1548Lys) c.4450C>A (p.Gln1484Lys) n.4731C>A n.4725C>A | |
3 | g.142513507C>A | CA354796696 | ATR | c.4635G>T (p.Gln1545His) n.4664G>T c.3425G>T c.4443G>T (p.Gln1481His) n.99G>T c.4641G>T (p.Gln1547His) c.4449G>T (p.Gln1483His) n.4730G>T n.4724G>T | |
3 | g.142513507C>G | CA354796698 | ATR | c.4635G>C (p.Gln1545His) n.4664G>C c.3425G>C c.4443G>C (p.Gln1481His) n.99G>C c.4641G>C (p.Gln1547His) c.4449G>C (p.Gln1483His) n.4730G>C n.4724G>C | |
3 | g.142513507C>T | CA436106249 | ATR | c.4635G>A (p.Gln1545=) n.4664G>A c.3425G>A c.4443G>A (p.Gln1481=) n.99G>A c.4641G>A (p.Gln1547=) c.4449G>A (p.Gln1483=) n.4730G>A n.4724G>A | dbSNP |
3 | g.142513508T>A | CA354796702 | ATR | c.4634A>T (p.Gln1545Leu) n.4663A>T c.3424A>T c.4442A>T (p.Gln1481Leu) n.98A>T c.4640A>T (p.Gln1547Leu) c.4448A>T (p.Gln1483Leu) n.4729A>T n.4723A>T | |
3 | g.142513508T>C | CA354796701 | ATR | c.4634A>G (p.Gln1545Arg) n.4663A>G c.3424A>G c.4442A>G (p.Gln1481Arg) n.98A>G c.4640A>G (p.Gln1547Arg) c.4448A>G (p.Gln1483Arg) n.4729A>G n.4723A>G | |
3 | g.142513508T>G | CA354796699 | ATR | c.4634A>C (p.Gln1545Pro) n.4663A>C c.3424A>C c.4442A>C (p.Gln1481Pro) n.98A>C c.4640A>C (p.Gln1547Pro) c.4448A>C (p.Gln1483Pro) n.4729A>C n.4723A>C | dbSNP |
3 | g.142513508T= | CA1407011046 | ATR | c.4634A= (p.Gln1545=) n.4663A= c.3424A= c.4442A= (p.Gln1481=) n.98A= c.4640A= (p.Gln1547=) c.4448A= (p.Gln1483=) n.4729A= n.4723A= | |
3 | g.142513509G>A | CA354796707 | ATR | c.4633C>T (p.Gln1545Ter) n.4662C>T c.3423C>T c.4441C>T (p.Gln1481Ter) n.97C>T c.4639C>T (p.Gln1547Ter) c.4447C>T (p.Gln1483Ter) n.4728C>T n.4722C>T | |
3 | g.142513509G>C | CA354796704 | ATR | c.4633C>G (p.Gln1545Glu) n.4662C>G c.3423C>G c.4441C>G (p.Gln1481Glu) n.97C>G c.4639C>G (p.Gln1547Glu) c.4447C>G (p.Gln1483Glu) n.4728C>G n.4722C>G | |
3 | g.142513509G>T | CA354796706 | ATR | c.4633C>A (p.Gln1545Lys) n.4662C>A c.3423C>A c.4441C>A (p.Gln1481Lys) n.97C>A c.4639C>A (p.Gln1547Lys) c.4447C>A (p.Gln1483Lys) n.4728C>A n.4722C>A | |
3 | g.142513510A>C | CA354796709 | ATR | c.4632T>G (p.Asp1544Glu) n.4661T>G c.3422T>G c.4440T>G (p.Asp1480Glu) n.96T>G c.4638T>G (p.Asp1546Glu) c.4446T>G (p.Asp1482Glu) n.4727T>G n.4721T>G | |
3 | g.142513510A>G | CA436106251 | ATR | c.4632T>C (p.Asp1544=) n.4661T>C c.3422T>C c.4440T>C (p.Asp1480=) n.96T>C c.4638T>C (p.Asp1546=) c.4446T>C (p.Asp1482=) n.4727T>C n.4721T>C | |
3 | g.142513510A>T | CA354796710 | ATR | c.4632T>A (p.Asp1544Glu) n.4661T>A c.3422T>A c.4440T>A (p.Asp1480Glu) n.96T>A c.4638T>A (p.Asp1546Glu) c.4446T>A (p.Asp1482Glu) n.4727T>A n.4721T>A | |
3 | g.142513510_142513513delinsATCT | CA1407011047 | ATR | c.4629_4632delinsAGAT (p.Glu1543=) n.4658_4661delinsAGAT c.3419_3422delinsAGAT c.4437_4440delinsAGAT (p.Glu1479=) n.93_96delinsAGAT c.4635_4638delinsAGAT (p.Glu1545=) c.4443_4446delinsAGAT (p.Glu1481=) n.4724_4727delinsAGAT n.4718_4721delinsAGAT | |
3 | g.142513511T>A | CA354796712 | ATR | c.4631A>T (p.Asp1544Val) n.4660A>T c.3421A>T c.4439A>T (p.Asp1480Val) n.95A>T c.4637A>T (p.Asp1546Val) c.4445A>T (p.Asp1482Val) n.4726A>T n.4720A>T | |
3 | g.142513511T>C | CA354796713 | ATR | c.4631A>G (p.Asp1544Gly) n.4660A>G c.3421A>G c.4439A>G (p.Asp1480Gly) n.95A>G c.4637A>G (p.Asp1546Gly) c.4445A>G (p.Asp1482Gly) n.4726A>G n.4720A>G | |
3 | g.142513511T>G | CA354796715 | ATR | c.4631A>C (p.Asp1544Ala) n.4660A>C c.3421A>C c.4439A>C (p.Asp1480Ala) n.95A>C c.4637A>C (p.Asp1546Ala) c.4445A>C (p.Asp1482Ala) n.4726A>C n.4720A>C | |
3 | g.142513515_142513517del | CA2649807 | ATR | c.4629_4631del (p.Glu1543del) n.4658_4660del c.3419_3421del c.4437_4439del (p.Glu1479del) n.93_95del c.4635_4637del (p.Glu1545del) c.4443_4445del (p.Glu1481del) n.4724_4726del n.4718_4720del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.142513512C>A | CA354796718 | ATR | c.4630G>T (p.Asp1544Tyr) n.4659G>T c.3420G>T c.4438G>T (p.Asp1480Tyr) n.94G>T c.4636G>T (p.Asp1546Tyr) c.4444G>T (p.Asp1482Tyr) n.4725G>T n.4719G>T | |
3 | g.142513512C>G | CA354796719 | ATR | c.4630G>C (p.Asp1544His) n.4659G>C c.3420G>C c.4438G>C (p.Asp1480His) n.94G>C c.4636G>C (p.Asp1546His) c.4444G>C (p.Asp1482His) n.4725G>C n.4719G>C | |
3 | g.142513512C>T | CA354796721 | ATR | c.4630G>A (p.Asp1544Asn) n.4659G>A c.3420G>A c.4438G>A (p.Asp1480Asn) n.94G>A c.4636G>A (p.Asp1546Asn) c.4444G>A (p.Asp1482Asn) n.4725G>A n.4719G>A | |
3 | g.142513513T>A | CA354796722 | ATR | c.4629A>T (p.Glu1543Asp) n.4658A>T c.3419A>T c.4437A>T (p.Glu1479Asp) n.93A>T c.4635A>T (p.Glu1545Asp) c.4443A>T (p.Glu1481Asp) n.4724A>T n.4718A>T | |
3 | g.142513513T>C | CA436106254 | ATR | c.4629A>G (p.Glu1543=) n.4658A>G c.3419A>G c.4437A>G (p.Glu1479=) n.93A>G c.4635A>G (p.Glu1545=) c.4443A>G (p.Glu1481=) n.4724A>G n.4718A>G | |
3 | g.142513513T>G | CA354796724 | ATR | c.4629A>C (p.Glu1543Asp) n.4658A>C c.3419A>C c.4437A>C (p.Glu1479Asp) n.93A>C c.4635A>C (p.Glu1545Asp) c.4443A>C (p.Glu1481Asp) n.4724A>C n.4718A>C | |
3 | g.142513514T>A | CA354796729 | ATR | c.4628A>T (p.Glu1543Val) n.4657A>T c.3418A>T c.4436A>T (p.Glu1479Val) n.92A>T c.4634A>T (p.Glu1545Val) c.4442A>T (p.Glu1481Val) n.4723A>T n.4717A>T | |
3 | g.142513514T>C | CA354796726 | ATR | c.4628A>G (p.Glu1543Gly) n.4657A>G c.3418A>G c.4436A>G (p.Glu1479Gly) n.92A>G c.4634A>G (p.Glu1545Gly) c.4442A>G (p.Glu1481Gly) n.4723A>G n.4717A>G | |
3 | g.142513514T>G | CA354796727 | ATR | c.4628A>C (p.Glu1543Ala) n.4657A>C c.3418A>C c.4436A>C (p.Glu1479Ala) n.92A>C c.4634A>C (p.Glu1545Ala) c.4442A>C (p.Glu1481Ala) n.4723A>C n.4717A>C | |
3 | g.142513515C>A | CA354796731 | ATR | c.4627G>T (p.Glu1543Ter) n.4656G>T c.3417G>T c.4435G>T (p.Glu1479Ter) n.91G>T c.4633G>T (p.Glu1545Ter) c.4441G>T (p.Glu1481Ter) n.4722G>T n.4716G>T | |
3 | g.142513515C>G | CA354796732 | ATR | c.4627G>C (p.Glu1543Gln) n.4656G>C c.3417G>C c.4435G>C (p.Glu1479Gln) n.91G>C c.4633G>C (p.Glu1545Gln) c.4441G>C (p.Glu1481Gln) n.4722G>C n.4716G>C | |
3 | g.142513515C>T | CA354796734 | ATR | c.4627G>A (p.Glu1543Lys) n.4656G>A c.3417G>A c.4435G>A (p.Glu1479Lys) n.91G>A c.4633G>A (p.Glu1545Lys) c.4441G>A (p.Glu1481Lys) n.4722G>A n.4716G>A | |
3 | g.142513516T>A | CA354796735 | ATR | c.4626A>T (p.Gln1542His) n.4655A>T c.3416A>T c.4434A>T (p.Gln1478His) n.90A>T c.4632A>T (p.Gln1544His) c.4440A>T (p.Gln1480His) n.4721A>T n.4715A>T | |
3 | g.142513516T>C | CA436106258 | ATR | c.4626A>G (p.Gln1542=) n.4655A>G c.3416A>G c.4434A>G (p.Gln1478=) n.90A>G c.4632A>G (p.Gln1544=) c.4440A>G (p.Gln1480=) n.4721A>G n.4715A>G | dbSNP gnomAD v3 gnomAD v4 |
3 | g.142513516T>G | CA354796737 | ATR | c.4626A>C (p.Gln1542His) n.4655A>C c.3416A>C c.4434A>C (p.Gln1478His) n.90A>C c.4632A>C (p.Gln1544His) c.4440A>C (p.Gln1480His) n.4721A>C n.4715A>C | |
3 | g.142513516T= | CA1407011048 | ATR | c.4626A= (p.Gln1542=) n.4655A= c.3416A= c.4434A= (p.Gln1478=) n.90A= c.4632A= (p.Gln1544=) c.4440A= (p.Gln1480=) n.4721A= n.4715A= | |
3 | g.142513517T>A | CA354796739 | ATR | c.4625A>T (p.Gln1542Leu) n.4654A>T c.3415A>T c.4433A>T (p.Gln1478Leu) n.89A>T c.4631A>T (p.Gln1544Leu) c.4439A>T (p.Gln1480Leu) n.4720A>T n.4714A>T | |
3 | g.142513517T>C | CA354796741 | ATR | c.4625A>G (p.Gln1542Arg) n.4654A>G c.3415A>G c.4433A>G (p.Gln1478Arg) n.89A>G c.4631A>G (p.Gln1544Arg) c.4439A>G (p.Gln1480Arg) n.4720A>G n.4714A>G | |
3 | g.142513517T>G | CA2649808 | ATR | c.4625A>C (p.Gln1542Pro) n.4654A>C c.3415A>C c.4433A>C (p.Gln1478Pro) n.89A>C c.4631A>C (p.Gln1544Pro) c.4439A>C (p.Gln1480Pro) n.4720A>C n.4714A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.142513517T= | CA1407011049 | ATR | c.4625A= (p.Gln1542=) n.4654A= c.3415A= c.4433A= (p.Gln1478=) n.89A= c.4631A= (p.Gln1544=) c.4439A= (p.Gln1480=) n.4720A= n.4714A= | |
3 | g.142513518G>A | CA354796742 | ATR | c.4624C>T (p.Gln1542Ter) n.4653C>T c.3414C>T c.4432C>T (p.Gln1478Ter) n.88C>T c.4630C>T (p.Gln1544Ter) c.4438C>T (p.Gln1480Ter) n.4719C>T n.4713C>T | dbSNP |
3 | g.142513518G>C | CA354796743 | ATR | c.4624C>G (p.Gln1542Glu) n.4653C>G c.3414C>G c.4432C>G (p.Gln1478Glu) n.88C>G c.4630C>G (p.Gln1544Glu) c.4438C>G (p.Gln1480Glu) n.4719C>G n.4713C>G | COSMIC |
3 | g.142513518G>T | CA354796744 | ATR | c.4624C>A (p.Gln1542Lys) n.4653C>A c.3414C>A c.4432C>A (p.Gln1478Lys) n.88C>A c.4630C>A (p.Gln1544Lys) c.4438C>A (p.Gln1480Lys) n.4719C>A n.4713C>A | |
3 | g.142513519A>C | CA354796745 | ATR | c.4623T>G (p.Asn1541Lys) n.4652T>G c.3413T>G c.4431T>G (p.Asn1477Lys) n.87T>G c.4629T>G (p.Asn1543Lys) c.4437T>G (p.Asn1479Lys) n.4718T>G n.4712T>G | |
3 | g.142513519A>G | CA436106259 | ATR | c.4623T>C (p.Asn1541=) n.4652T>C c.3413T>C c.4431T>C (p.Asn1477=) n.87T>C c.4629T>C (p.Asn1543=) c.4437T>C (p.Asn1479=) n.4718T>C n.4712T>C | |
3 | g.142513519A>T | CA354796746 | ATR | c.4623T>A (p.Asn1541Lys) n.4652T>A c.3413T>A c.4431T>A (p.Asn1477Lys) n.87T>A c.4629T>A (p.Asn1543Lys) c.4437T>A (p.Asn1479Lys) n.4718T>A n.4712T>A | ClinVar gnomAD v4 |
3 | g.142513520T>A | CA354796749 | ATR | c.4622A>T (p.Asn1541Ile) n.4651A>T c.3412A>T c.4430A>T (p.Asn1477Ile) n.86A>T c.4628A>T (p.Asn1543Ile) c.4436A>T (p.Asn1479Ile) n.4717A>T n.4711A>T | |
3 | g.142513520T>C | CA354796751 | ATR | c.4622A>G (p.Asn1541Ser) n.4651A>G c.3412A>G c.4430A>G (p.Asn1477Ser) n.86A>G c.4628A>G (p.Asn1543Ser) c.4436A>G (p.Asn1479Ser) n.4717A>G n.4711A>G | COSMIC |
3 | g.142513520T>G | CA354796748 | ATR | c.4622A>C (p.Asn1541Thr) n.4651A>C c.3412A>C c.4430A>C (p.Asn1477Thr) n.86A>C c.4628A>C (p.Asn1543Thr) c.4436A>C (p.Asn1479Thr) n.4717A>C n.4711A>C | |
3 | g.142513521T>A | CA354796753 | ATR | c.4621A>T (p.Asn1541Tyr) n.4650A>T c.3411A>T c.4429A>T (p.Asn1477Tyr) n.85A>T c.4627A>T (p.Asn1543Tyr) c.4435A>T (p.Asn1479Tyr) n.4716A>T n.4710A>T | |
3 | g.142513521T>C | CA354796756 | ATR | c.4621A>G (p.Asn1541Asp) n.4650A>G c.3411A>G c.4429A>G (p.Asn1477Asp) n.85A>G c.4627A>G (p.Asn1543Asp) c.4435A>G (p.Asn1479Asp) n.4716A>G n.4710A>G | |
3 | g.142513521T>G | CA354796754 | ATR | c.4621A>C (p.Asn1541His) n.4650A>C c.3411A>C c.4429A>C (p.Asn1477His) n.85A>C c.4627A>C (p.Asn1543His) c.4435A>C (p.Asn1479His) n.4716A>C n.4710A>C | |
3 | g.142513522A>C | CA354796758 | ATR | c.4620T>G (p.Cys1540Trp) n.4649T>G c.3410T>G c.4428T>G (p.Cys1476Trp) n.84T>G c.4626T>G (p.Cys1542Trp) c.4434T>G (p.Cys1478Trp) n.4715T>G n.4709T>G | |
3 | g.142513522A>G | CA436106264 | ATR | c.4620T>C (p.Cys1540=) n.4649T>C c.3410T>C c.4428T>C (p.Cys1476=) n.84T>C c.4626T>C (p.Cys1542=) c.4434T>C (p.Cys1478=) n.4715T>C n.4709T>C | |
3 | g.142513522A>T | CA354796760 | ATR | c.4620T>A (p.Cys1540Ter) n.4649T>A c.3410T>A c.4428T>A (p.Cys1476Ter) n.84T>A c.4626T>A (p.Cys1542Ter) c.4434T>A (p.Cys1478Ter) n.4715T>A n.4709T>A | |
3 | g.142513523C>A | CA354796761 | ATR | c.4619G>T (p.Cys1540Phe) n.4648G>T c.3409G>T c.4427G>T (p.Cys1476Phe) n.83G>T c.4625G>T (p.Cys1542Phe) c.4433G>T (p.Cys1478Phe) n.4714G>T n.4708G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.142513523C= | CA1407011050 | ATR | c.4619G= (p.Cys1540=) n.4648G= c.3409G= c.4427G= (p.Cys1476=) n.83G= c.4625G= (p.Cys1542=) c.4433G= (p.Cys1478=) n.4714G= n.4708G= | |
3 | g.142513523C>G | CA354796762 | ATR | c.4619G>C (p.Cys1540Ser) n.4648G>C c.3409G>C c.4427G>C (p.Cys1476Ser) n.83G>C c.4625G>C (p.Cys1542Ser) c.4433G>C (p.Cys1478Ser) n.4714G>C n.4708G>C | |
3 | g.142513523C>T | CA354796764 | ATR | c.4619G>A (p.Cys1540Tyr) n.4648G>A c.3409G>A c.4427G>A (p.Cys1476Tyr) n.83G>A c.4625G>A (p.Cys1542Tyr) c.4433G>A (p.Cys1478Tyr) n.4714G>A n.4708G>A | dbSNP gnomAD v3 gnomAD v4 |
3 | g.142513524A>C | CA354796766 | ATR | c.4618T>G (p.Cys1540Gly) n.4647T>G c.3408T>G c.4426T>G (p.Cys1476Gly) n.82T>G c.4624T>G (p.Cys1542Gly) c.4432T>G (p.Cys1478Gly) n.4713T>G n.4707T>G | |
3 | g.142513524A>G | CA354796768 | ATR | c.4618T>C (p.Cys1540Arg) n.4647T>C c.3408T>C c.4426T>C (p.Cys1476Arg) n.82T>C c.4624T>C (p.Cys1542Arg) c.4432T>C (p.Cys1478Arg) n.4713T>C n.4707T>C | |
3 | g.142513524A>T | CA354796770 | ATR | c.4618T>A (p.Cys1540Ser) n.4647T>A c.3408T>A c.4426T>A (p.Cys1476Ser) n.82T>A c.4624T>A (p.Cys1542Ser) c.4432T>A (p.Cys1478Ser) n.4713T>A n.4707T>A | |
3 | g.142513525A>C | CA436106267 | ATR | c.4617T>G (p.Gly1539=) n.4646T>G c.3407T>G c.4425T>G (p.Gly1475=) n.81T>G c.4623T>G (p.Gly1541=) c.4431T>G (p.Gly1477=) n.4712T>G n.4706T>G | |
3 | g.142513525A>G | CA436106269 | ATR | c.4617T>C (p.Gly1539=) n.4646T>C c.3407T>C c.4425T>C (p.Gly1475=) n.81T>C c.4623T>C (p.Gly1541=) c.4431T>C (p.Gly1477=) n.4712T>C n.4706T>C | dbSNP |
3 | g.142513525A>T | CA436106273 | ATR | c.4617T>A (p.Gly1539=) n.4646T>A c.3407T>A c.4425T>A (p.Gly1475=) n.81T>A c.4623T>A (p.Gly1541=) c.4431T>A (p.Gly1477=) n.4712T>A n.4706T>A | |
3 | g.142513527_142513540del | CA2577925128 | ATR | c.4604_4617del (p.Tyr1535LeufsTer2) n.4633_4646del c.3394_3407del c.4412_4425del (p.Tyr1471LeufsTer2) n.68_81del c.4610_4623del (p.Tyr1537LeufsTer2) c.4418_4431del (p.Tyr1473LeufsTer2) n.4699_4712del n.4693_4706del | |
3 | g.142513526C>A | CA354796773 | ATR | c.4616G>T (p.Gly1539Val) n.4645G>T c.3406G>T c.4424G>T (p.Gly1475Val) n.80G>T c.4622G>T (p.Gly1541Val) c.4430G>T (p.Gly1477Val) n.4711G>T n.4705G>T | |
3 | g.142513526C= | CA1407011051 | ATR | c.4616G= (p.Gly1539=) n.4645G= c.3406G= c.4424G= (p.Gly1475=) n.80G= c.4622G= (p.Gly1541=) c.4430G= (p.Gly1477=) n.4711G= n.4705G= | |
3 | g.142513526C>G | CA354796775 | ATR | c.4616G>C (p.Gly1539Ala) n.4645G>C c.3406G>C c.4424G>C (p.Gly1475Ala) n.80G>C c.4622G>C (p.Gly1541Ala) c.4430G>C (p.Gly1477Ala) n.4711G>C n.4705G>C | |
3 | g.142513526C>T | CA354796778 | ATR | c.4616G>A (p.Gly1539Asp) n.4645G>A c.3406G>A c.4424G>A (p.Gly1475Asp) n.80G>A c.4622G>A (p.Gly1541Asp) c.4430G>A (p.Gly1477Asp) n.4711G>A n.4705G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.142513526_142513541delinsCCCAGTAAGACATACA | CA1407011052 | ATR | c.4601_4616delinsTGTATGTCTTACTGGG (p.Val1534=) n.4630_4645delinsTGTATGTCTTACTGGG c.3391_3406delinsTGTATGTCTTACTGGG c.4409_4424delinsTGTATGTCTTACTGGG (p.Val1470=) n.65_80delinsTGTATGTCTTACTGGG c.4607_4622delinsTGTATGTCTTACTGGG (p.Val1536=) c.4415_4430delinsTGTATGTCTTACTGGG (p.Val1472=) n.4696_4711delinsTGTATGTCTTACTGGG n.4690_4705delinsTGTATGTCTTACTGGG | |
3 | g.142513527C>A | CA354796784 | ATR | c.4615G>T (p.Gly1539Cys) n.4644G>T c.3405G>T c.4423G>T (p.Gly1475Cys) n.79G>T c.4621G>T (p.Gly1541Cys) c.4429G>T (p.Gly1477Cys) n.4710G>T n.4704G>T | dbSNP |
3 | g.142513527C= | CA1407011053 | ATR | c.4615G= (p.Gly1539=) n.4644G= c.3405G= c.4423G= (p.Gly1475=) n.79G= c.4621G= (p.Gly1541=) c.4429G= (p.Gly1477=) n.4710G= n.4704G= | |
3 | g.142513527C>G | CA354796780 | ATR | c.4615G>C (p.Gly1539Arg) n.4644G>C c.3405G>C c.4423G>C (p.Gly1475Arg) n.79G>C c.4621G>C (p.Gly1541Arg) c.4429G>C (p.Gly1477Arg) n.4710G>C n.4704G>C | |
3 | g.142513527C>T | CA2649809 | ATR | c.4615G>A (p.Gly1539Ser) n.4644G>A c.3405G>A c.4423G>A (p.Gly1475Ser) n.79G>A c.4621G>A (p.Gly1541Ser) c.4429G>A (p.Gly1477Ser) n.4710G>A n.4704G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.142513531_142513545del | CA436106281 | ATR | c.4601_4615del (p.Val1534_Leu1538del) n.4630_4644del c.3391_3405del c.4409_4423del (p.Val1470_Leu1474del) n.65_79del c.4607_4621del (p.Val1536_Leu1540del) c.4415_4429del (p.Val1472_Leu1476del) n.4696_4710del n.4690_4704del | ClinVar dbSNP gnomAD v4 |
3 | g.142513528C>A | CA436106284 | ATR | c.4614G>T (p.Leu1538=) n.4643G>T c.3404G>T c.4422G>T (p.Leu1474=) n.78G>T c.4620G>T (p.Leu1540=) c.4428G>T (p.Leu1476=) n.4709G>T n.4703G>T | |
3 | g.142513528C>G | CA436106289 | ATR | c.4614G>C (p.Leu1538=) n.4643G>C c.3404G>C c.4422G>C (p.Leu1474=) n.78G>C c.4620G>C (p.Leu1540=) c.4428G>C (p.Leu1476=) n.4709G>C n.4703G>C | |
3 | g.142513528C>T | CA436106292 | ATR | c.4614G>A (p.Leu1538=) n.4643G>A c.3404G>A c.4422G>A (p.Leu1474=) n.78G>A c.4620G>A (p.Leu1540=) c.4428G>A (p.Leu1476=) n.4709G>A n.4703G>A | |
3 | g.142513529A= | CA1407011054 | ATR | c.4613T= (p.Leu1538=) n.4642T= c.3403T= c.4421T= (p.Leu1474=) n.77T= c.4619T= (p.Leu1540=) c.4427T= (p.Leu1476=) n.4708T= n.4702T= | |
3 | g.142513529A>C | CA354796787 | ATR | c.4613T>G (p.Leu1538Arg) n.4642T>G c.3403T>G c.4421T>G (p.Leu1474Arg) n.77T>G c.4619T>G (p.Leu1540Arg) c.4427T>G (p.Leu1476Arg) n.4708T>G n.4702T>G | |
3 | g.142513529A>G | CA354796789 | ATR | c.4613T>C (p.Leu1538Pro) n.4642T>C c.3403T>C c.4421T>C (p.Leu1474Pro) n.77T>C c.4619T>C (p.Leu1540Pro) c.4427T>C (p.Leu1476Pro) n.4708T>C n.4702T>C | gnomAD v4 |
3 | g.142513529A>T | CA84719225 | ATR | c.4613T>A (p.Leu1538Gln) n.4642T>A c.3403T>A c.4421T>A (p.Leu1474Gln) n.77T>A c.4619T>A (p.Leu1540Gln) c.4427T>A (p.Leu1476Gln) n.4708T>A n.4702T>A | dbSNP gnomAD v4 |
3 | g.142513530G>A | CA2649810 | ATR | c.4612C>T (p.Leu1538=) n.4641C>T c.3402C>T c.4420C>T (p.Leu1474=) n.76C>T c.4618C>T (p.Leu1540=) c.4426C>T (p.Leu1476=) n.4707C>T n.4701C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.142513530G>C | CA354796792 | ATR | c.4612C>G (p.Leu1538Val) n.4641C>G c.3402C>G c.4420C>G (p.Leu1474Val) n.76C>G c.4618C>G (p.Leu1540Val) c.4426C>G (p.Leu1476Val) n.4707C>G n.4701C>G | |
3 | g.142513530G= | CA1407011055 | ATR | c.4612C= (p.Leu1538=) n.4641C= c.3402C= c.4420C= (p.Leu1474=) n.76C= c.4618C= (p.Leu1540=) c.4426C= (p.Leu1476=) n.4707C= n.4701C= | |
3 | g.142513530G>T | CA354796793 | ATR | c.4612C>A (p.Leu1538Met) n.4641C>A c.3402C>A c.4420C>A (p.Leu1474Met) n.76C>A c.4618C>A (p.Leu1540Met) c.4426C>A (p.Leu1476Met) n.4707C>A n.4701C>A | |
3 | g.142513531T>A | CA354796795 | ATR | c.4611A>T (p.Leu1537Phe) n.4640A>T c.3401A>T c.4419A>T (p.Leu1473Phe) n.75A>T c.4617A>T (p.Leu1539Phe) c.4425A>T (p.Leu1475Phe) n.4706A>T n.4700A>T | |
3 | g.142513531T>C | CA436106301 | ATR | c.4611A>G (p.Leu1537=) n.4640A>G c.3401A>G c.4419A>G (p.Leu1473=) n.75A>G c.4617A>G (p.Leu1539=) c.4425A>G (p.Leu1475=) n.4706A>G n.4700A>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.142513531T>G | CA354796796 | ATR | c.4611A>C (p.Leu1537Phe) n.4640A>C c.3401A>C c.4419A>C (p.Leu1473Phe) n.75A>C c.4617A>C (p.Leu1539Phe) c.4425A>C (p.Leu1475Phe) n.4706A>C n.4700A>C | |
3 | g.142513531T= | CA1407011056 | ATR | c.4611A= (p.Leu1537=) n.4640A= c.3401A= c.4419A= (p.Leu1473=) n.75A= c.4617A= (p.Leu1539=) c.4425A= (p.Leu1475=) n.4706A= n.4700A= | |
3 | g.142513532A>C | CA354796798 | ATR | c.4610T>G (p.Leu1537Ter) n.4639T>G c.3400T>G c.4418T>G (p.Leu1473Ter) n.74T>G c.4616T>G (p.Leu1539Ter) c.4424T>G (p.Leu1475Ter) n.4705T>G n.4699T>G | |
3 | g.142513532A>G | CA354796800 | ATR | c.4610T>C (p.Leu1537Ser) n.4639T>C c.3400T>C c.4418T>C (p.Leu1473Ser) n.74T>C c.4616T>C (p.Leu1539Ser) c.4424T>C (p.Leu1475Ser) n.4705T>C n.4699T>C | |
3 | g.142513532A>T | CA354796801 | ATR | c.4610T>A (p.Leu1537Ter) n.4639T>A c.3400T>A c.4418T>A (p.Leu1473Ter) n.74T>A c.4616T>A (p.Leu1539Ter) c.4424T>A (p.Leu1475Ter) n.4705T>A n.4699T>A | gnomAD v4 |
3 | g.142513533A>C | CA354796804 | ATR | c.4609T>G (p.Leu1537Val) n.4638T>G c.3399T>G c.4417T>G (p.Leu1473Val) n.73T>G c.4615T>G (p.Leu1539Val) c.4423T>G (p.Leu1475Val) n.4704T>G n.4698T>G | |
3 | g.142513533A>G | CA436106311 | ATR | c.4609T>C (p.Leu1537=) n.4638T>C c.3399T>C c.4417T>C (p.Leu1473=) n.73T>C c.4615T>C (p.Leu1539=) c.4423T>C (p.Leu1475=) n.4704T>C n.4698T>C | |
3 | g.142513533A>T | CA354796803 | ATR | c.4609T>A (p.Leu1537Ile) n.4638T>A c.3399T>A c.4417T>A (p.Leu1473Ile) n.73T>A c.4615T>A (p.Leu1539Ile) c.4423T>A (p.Leu1475Ile) n.4704T>A n.4698T>A | |
3 | g.142513534G>A | CA436106313 | ATR | c.4608C>T (p.Val1536=) n.4637C>T c.3398C>T c.4416C>T (p.Val1472=) n.72C>T c.4614C>T (p.Val1538=) c.4422C>T (p.Val1474=) n.4703C>T n.4697C>T | |
3 | g.142513534G>C | CA436106314 | ATR | c.4608C>G (p.Val1536=) n.4637C>G c.3398C>G c.4416C>G (p.Val1472=) n.72C>G c.4614C>G (p.Val1538=) c.4422C>G (p.Val1474=) n.4703C>G n.4697C>G | |
3 | g.142513534G>T | CA436106315 | ATR | c.4608C>A (p.Val1536=) n.4637C>A c.3398C>A c.4416C>A (p.Val1472=) n.72C>A c.4614C>A (p.Val1538=) c.4422C>A (p.Val1474=) n.4703C>A n.4697C>A | |
3 | g.142513535A>C | CA354796806 | ATR | c.4607T>G (p.Val1536Gly) n.4636T>G c.3397T>G c.4415T>G (p.Val1472Gly) n.71T>G c.4613T>G (p.Val1538Gly) c.4421T>G (p.Val1474Gly) n.4702T>G n.4696T>G | |
3 | g.142513535A>G | CA354796807 | ATR | c.4607T>C (p.Val1536Ala) n.4636T>C c.3397T>C c.4415T>C (p.Val1472Ala) n.71T>C c.4613T>C (p.Val1538Ala) c.4421T>C (p.Val1474Ala) n.4702T>C n.4696T>C | gnomAD v4 |
3 | g.142513535A>T | CA354796809 | ATR | c.4607T>A (p.Val1536Asp) n.4636T>A c.3397T>A c.4415T>A (p.Val1472Asp) n.71T>A c.4613T>A (p.Val1538Asp) c.4421T>A (p.Val1474Asp) n.4702T>A n.4696T>A | |
3 | g.142513536C>A | CA354796811 | ATR | c.4606G>T (p.Val1536Phe) n.4635G>T c.3396G>T c.4414G>T (p.Val1472Phe) n.70G>T c.4612G>T (p.Val1538Phe) c.4420G>T (p.Val1474Phe) n.4701G>T n.4695G>T | |
3 | g.142513536C= | CA1407011057 | ATR | c.4606G= (p.Val1536=) n.4635G= c.3396G= c.4414G= (p.Val1472=) n.70G= c.4612G= (p.Val1538=) c.4420G= (p.Val1474=) n.4701G= n.4695G= | |
3 | g.142513536C>G | CA354796812 | ATR | c.4606G>C (p.Val1536Leu) n.4635G>C c.3396G>C c.4414G>C (p.Val1472Leu) n.70G>C c.4612G>C (p.Val1538Leu) c.4420G>C (p.Val1474Leu) n.4701G>C n.4695G>C | |
3 | g.142513536C>T | CA354796814 | ATR | c.4606G>A (p.Val1536Ile) n.4635G>A c.3396G>A c.4414G>A (p.Val1472Ile) n.70G>A c.4612G>A (p.Val1538Ile) c.4420G>A (p.Val1474Ile) n.4701G>A n.4695G>A | dbSNP gnomAD v4 |
3 | g.142513537A>C | CA354796816 | ATR | c.4605T>G (p.Tyr1535Ter) n.4634T>G c.3395T>G c.4413T>G (p.Tyr1471Ter) n.69T>G c.4611T>G (p.Tyr1537Ter) c.4419T>G (p.Tyr1473Ter) n.4700T>G n.4694T>G | |
3 | g.142513537A>G | CA436106323 | ATR | c.4605T>C (p.Tyr1535=) n.4634T>C c.3395T>C c.4413T>C (p.Tyr1471=) n.69T>C c.4611T>C (p.Tyr1537=) c.4419T>C (p.Tyr1473=) n.4700T>C n.4694T>C | ClinVar gnomAD v4 |
3 | g.142513537A>T | CA354796818 | ATR | c.4605T>A (p.Tyr1535Ter) n.4634T>A c.3395T>A c.4413T>A (p.Tyr1471Ter) n.69T>A c.4611T>A (p.Tyr1537Ter) c.4419T>A (p.Tyr1473Ter) n.4700T>A n.4694T>A | |
3 | g.142513538T>A | CA354796819 | ATR | c.4604A>T (p.Tyr1535Phe) n.4633A>T c.3394A>T c.4412A>T (p.Tyr1471Phe) n.68A>T c.4610A>T (p.Tyr1537Phe) c.4418A>T (p.Tyr1473Phe) n.4699A>T n.4693A>T | |
3 | g.142513538T>C | CA354796820 | ATR | c.4604A>G (p.Tyr1535Cys) n.4633A>G c.3394A>G c.4412A>G (p.Tyr1471Cys) n.68A>G c.4610A>G (p.Tyr1537Cys) c.4418A>G (p.Tyr1473Cys) n.4699A>G n.4693A>G | dbSNP gnomAD v4 |
3 | g.142513538T>G | CA354796822 | ATR | c.4604A>C (p.Tyr1535Ser) n.4633A>C c.3394A>C c.4412A>C (p.Tyr1471Ser) n.68A>C c.4610A>C (p.Tyr1537Ser) c.4418A>C (p.Tyr1473Ser) n.4699A>C n.4693A>C | |
3 | g.142513538T= | CA1407011058 | ATR | c.4604A= (p.Tyr1535=) n.4633A= c.3394A= c.4412A= (p.Tyr1471=) n.68A= c.4610A= (p.Tyr1537=) c.4418A= (p.Tyr1473=) n.4699A= n.4693A= | |
3 | g.142513539A>C | CA354796824 | ATR | c.4603T>G (p.Tyr1535Asp) n.4632T>G c.3393T>G c.4411T>G (p.Tyr1471Asp) n.67T>G c.4609T>G (p.Tyr1537Asp) c.4417T>G (p.Tyr1473Asp) n.4698T>G n.4692T>G | |
3 | g.142513539A>G | CA354796826 | ATR | c.4603T>C (p.Tyr1535His) n.4632T>C c.3393T>C c.4411T>C (p.Tyr1471His) n.67T>C c.4609T>C (p.Tyr1537His) c.4417T>C (p.Tyr1473His) n.4698T>C n.4692T>C | |
3 | g.142513539A>T | CA354796827 | ATR | c.4603T>A (p.Tyr1535Asn) n.4632T>A c.3393T>A c.4411T>A (p.Tyr1471Asn) n.67T>A c.4609T>A (p.Tyr1537Asn) c.4417T>A (p.Tyr1473Asn) n.4698T>A n.4692T>A | |
3 | g.142513540C>A | CA436106427 | ATR | c.4602G>T (p.Val1534=) n.4631G>T c.3392G>T c.4410G>T (p.Val1470=) n.66G>T c.4608G>T (p.Val1536=) c.4416G>T (p.Val1472=) n.4697G>T n.4691G>T | |
3 | g.142513540C= | CA1407011059 | ATR | c.4602G= (p.Val1534=) n.4631G= c.3392G= c.4410G= (p.Val1470=) n.66G= c.4608G= (p.Val1536=) c.4416G= (p.Val1472=) n.4697G= n.4691G= | |
3 | g.142513540C>G | CA436106426 | ATR | c.4602G>C (p.Val1534=) n.4631G>C c.3392G>C c.4410G>C (p.Val1470=) n.66G>C c.4608G>C (p.Val1536=) c.4416G>C (p.Val1472=) n.4697G>C n.4691G>C | gnomAD v4 |
3 | g.142513540C>T | CA2649811 | ATR | c.4602G>A (p.Val1534=) n.4631G>A c.3392G>A c.4410G>A (p.Val1470=) n.66G>A c.4608G>A (p.Val1536=) c.4416G>A (p.Val1472=) n.4697G>A n.4691G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.142513541A>C | CA354796830 | ATR | c.4601T>G (p.Val1534Gly) n.4630T>G c.3391T>G c.4409T>G (p.Val1470Gly) n.65T>G c.4607T>G (p.Val1536Gly) c.4415T>G (p.Val1472Gly) n.4696T>G n.4690T>G | |
3 | g.142513541A>G | CA354796831 | ATR | c.4601T>C (p.Val1534Ala) n.4630T>C c.3391T>C c.4409T>C (p.Val1470Ala) n.65T>C c.4607T>C (p.Val1536Ala) c.4415T>C (p.Val1472Ala) n.4696T>C n.4690T>C | |
3 | g.142513541A>T | CA354796832 | ATR | c.4601T>A (p.Val1534Glu) n.4630T>A c.3391T>A c.4409T>A (p.Val1470Glu) n.65T>A c.4607T>A (p.Val1536Glu) c.4415T>A (p.Val1472Glu) n.4696T>A n.4690T>A | |
3 | g.142513542C>A | CA354796835 | ATR | c.4600G>T (p.Val1534Leu) n.4629G>T c.3390G>T c.4408G>T (p.Val1470Leu) n.64G>T c.4606G>T (p.Val1536Leu) c.4414G>T (p.Val1472Leu) n.4695G>T n.4689G>T | |
3 | g.142513542C>G | CA354796836 | ATR | c.4600G>C (p.Val1534Leu) n.4629G>C c.3390G>C c.4408G>C (p.Val1470Leu) n.64G>C c.4606G>C (p.Val1536Leu) c.4414G>C (p.Val1472Leu) n.4695G>C n.4689G>C | ClinVar |
3 | g.142513542C>T | CA354796838 | ATR | c.4600G>A (p.Val1534Met) n.4629G>A c.3390G>A c.4408G>A (p.Val1470Met) n.64G>A c.4606G>A (p.Val1536Met) c.4414G>A (p.Val1472Met) n.4695G>A n.4689G>A | gnomAD v4 |
3 | g.142513543C>A | CA2649812 | ATR | c.4599G>T (p.Leu1533=) n.4628G>T c.3389G>T c.4407G>T (p.Leu1469=) n.63G>T c.4605G>T (p.Leu1535=) c.4413G>T (p.Leu1471=) n.4694G>T n.4688G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.142513543C= | CA1407011060 | ATR | c.4599G= (p.Leu1533=) n.4628G= c.3389G= c.4407G= (p.Leu1469=) n.63G= c.4605G= (p.Leu1535=) c.4413G= (p.Leu1471=) n.4694G= n.4688G= | |
3 | g.142513543C>G | CA436106429 | ATR | c.4599G>C (p.Leu1533=) n.4628G>C c.3389G>C c.4407G>C (p.Leu1469=) n.63G>C c.4605G>C (p.Leu1535=) c.4413G>C (p.Leu1471=) n.4694G>C n.4688G>C | |
3 | g.142513543C>T | CA436106428 | ATR | c.4599G>A (p.Leu1533=) n.4628G>A c.3389G>A c.4407G>A (p.Leu1469=) n.63G>A c.4605G>A (p.Leu1535=) c.4413G>A (p.Leu1471=) n.4694G>A n.4688G>A | |
3 | g.142513544A>C | CA354796840 | ATR | c.4598T>G (p.Leu1533Arg) n.4627T>G c.3388T>G c.4406T>G (p.Leu1469Arg) n.62T>G c.4604T>G (p.Leu1535Arg) c.4412T>G (p.Leu1471Arg) n.4693T>G n.4687T>G | |
3 | g.142513544A>G | CA354796842 | ATR | c.4598T>C (p.Leu1533Pro) n.4627T>C c.3388T>C c.4406T>C (p.Leu1469Pro) n.62T>C c.4604T>C (p.Leu1535Pro) c.4412T>C (p.Leu1471Pro) n.4693T>C n.4687T>C | |
3 | g.142513544A>T | CA354796844 | ATR | c.4598T>A (p.Leu1533Gln) n.4627T>A c.3388T>A c.4406T>A (p.Leu1469Gln) n.62T>A c.4604T>A (p.Leu1535Gln) c.4412T>A (p.Leu1471Gln) n.4693T>A n.4687T>A | |
3 | g.142513545G>A | CA436106430 | ATR | c.4597C>T (p.Leu1533=) n.4626C>T c.3387C>T c.4405C>T (p.Leu1469=) n.61C>T c.4603C>T (p.Leu1535=) c.4411C>T (p.Leu1471=) n.4692C>T n.4686C>T | ClinVar dbSNP |
3 | g.142513545G>C | CA354796845 | ATR | c.4597C>G (p.Leu1533Val) n.4626C>G c.3387C>G c.4405C>G (p.Leu1469Val) n.61C>G c.4603C>G (p.Leu1535Val) c.4411C>G (p.Leu1471Val) n.4692C>G n.4686C>G | |
3 | g.142513545G= | CA1407011061 | ATR | c.4597C= (p.Leu1533=) n.4626C= c.3387C= c.4405C= (p.Leu1469=) n.61C= c.4603C= (p.Leu1535=) c.4411C= (p.Leu1471=) n.4692C= n.4686C= | |
3 | g.142513545G>T | CA354796847 | ATR | c.4597C>A (p.Leu1533Met) n.4626C>A c.3387C>A c.4405C>A (p.Leu1469Met) n.61C>A c.4603C>A (p.Leu1535Met) c.4411C>A (p.Leu1471Met) n.4692C>A n.4686C>A | |
3 | g.142513546A= | CA1407011062 | ATR | c.4596T= (p.Ile1532=) n.4625T= c.3386T= c.4404T= (p.Ile1468=) n.60T= c.4602T= (p.Ile1534=) c.4410T= (p.Ile1470=) n.4691T= n.4685T= | |
3 | g.142513546A>C | CA354796849 | ATR | c.4596T>G (p.Ile1532Met) n.4625T>G c.3386T>G c.4404T>G (p.Ile1468Met) n.60T>G c.4602T>G (p.Ile1534Met) c.4410T>G (p.Ile1470Met) n.4691T>G n.4685T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.142513546A>G | CA436106431 | ATR | c.4596T>C (p.Ile1532=) n.4625T>C c.3386T>C c.4404T>C (p.Ile1468=) n.60T>C c.4602T>C (p.Ile1534=) c.4410T>C (p.Ile1470=) n.4691T>C n.4685T>C | |
3 | g.142513546A>T | CA436106432 | ATR | c.4596T>A (p.Ile1532=) n.4625T>A c.3386T>A c.4404T>A (p.Ile1468=) n.60T>A c.4602T>A (p.Ile1534=) c.4410T>A (p.Ile1470=) n.4691T>A n.4685T>A | |
3 | g.142513547A>C | CA354796854 | ATR | c.4595T>G (p.Ile1532Ser) n.4624T>G c.3385T>G c.4403T>G (p.Ile1468Ser) n.59T>G c.4601T>G (p.Ile1534Ser) c.4409T>G (p.Ile1470Ser) n.4690T>G n.4684T>G | |
3 | g.142513547A>G | CA354796852 | ATR | c.4595T>C (p.Ile1532Thr) n.4624T>C c.3385T>C c.4403T>C (p.Ile1468Thr) n.59T>C c.4601T>C (p.Ile1534Thr) c.4409T>C (p.Ile1470Thr) n.4690T>C n.4684T>C | gnomAD v4 |
3 | g.142513547A>T | CA354796850 | ATR | c.4595T>A (p.Ile1532Asn) n.4624T>A c.3385T>A c.4403T>A (p.Ile1468Asn) n.59T>A c.4601T>A (p.Ile1534Asn) c.4409T>A (p.Ile1470Asn) n.4690T>A n.4684T>A | |
3 | g.142513548T>A | CA354796856 | ATR | c.4594A>T (p.Ile1532Phe) n.4623A>T c.3384A>T c.4402A>T (p.Ile1468Phe) n.58A>T c.4600A>T (p.Ile1534Phe) c.4408A>T (p.Ile1470Phe) n.4689A>T n.4683A>T | |
3 | g.142513548T>C | CA354796859 | ATR | c.4594A>G (p.Ile1532Val) n.4623A>G c.3384A>G c.4402A>G (p.Ile1468Val) n.58A>G c.4600A>G (p.Ile1534Val) c.4408A>G (p.Ile1470Val) n.4689A>G n.4683A>G | |
3 | g.142513548T>G | CA354796857 | ATR | c.4594A>C (p.Ile1532Leu) n.4623A>C c.3384A>C c.4402A>C (p.Ile1468Leu) n.58A>C c.4600A>C (p.Ile1534Leu) c.4408A>C (p.Ile1470Leu) n.4689A>C n.4683A>C | |
3 | g.142513549A>C | CA354796861 | ATR | c.4593T>G (p.His1531Gln) n.4622T>G c.3383T>G c.4401T>G (p.His1467Gln) n.57T>G c.4599T>G (p.His1533Gln) c.4407T>G (p.His1469Gln) n.4688T>G n.4682T>G | |
3 | g.142513549A>G | CA436106433 | ATR | c.4593T>C (p.His1531=) n.4622T>C c.3383T>C c.4401T>C (p.His1467=) n.57T>C c.4599T>C (p.His1533=) c.4407T>C (p.His1469=) n.4688T>C n.4682T>C | |
3 | g.142513549A>T | CA354796862 | ATR | c.4593T>A (p.His1531Gln) n.4622T>A c.3383T>A c.4401T>A (p.His1467Gln) n.57T>A c.4599T>A (p.His1533Gln) c.4407T>A (p.His1469Gln) n.4688T>A n.4682T>A | |
3 | g.142513550T>A | CA354796864 | ATR | c.4592A>T (p.His1531Leu) n.4621A>T c.3382A>T c.4400A>T (p.His1467Leu) n.56A>T c.4598A>T (p.His1533Leu) c.4406A>T (p.His1469Leu) n.4687A>T n.4681A>T | |
3 | g.142513550T>C | CA2649813 | ATR | c.4592A>G (p.His1531Arg) n.4621A>G c.3382A>G c.4400A>G (p.His1467Arg) n.56A>G c.4598A>G (p.His1533Arg) c.4406A>G (p.His1469Arg) n.4687A>G n.4681A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.142513550T>G | CA354796865 | ATR | c.4592A>C (p.His1531Pro) n.4621A>C c.3382A>C c.4400A>C (p.His1467Pro) n.56A>C c.4598A>C (p.His1533Pro) c.4406A>C (p.His1469Pro) n.4687A>C n.4681A>C | |
3 | g.142513550T= | CA1407011063 | ATR | c.4592A= (p.His1531=) n.4621A= c.3382A= c.4400A= (p.His1467=) n.56A= c.4598A= (p.His1533=) c.4406A= (p.His1469=) n.4687A= n.4681A= | |
3 | g.142513551G>A | CA354796868 | ATR | c.4591C>T (p.His1531Tyr) n.4620C>T c.3381C>T c.4399C>T (p.His1467Tyr) n.55C>T c.4597C>T (p.His1533Tyr) c.4405C>T (p.His1469Tyr) n.4686C>T n.4680C>T | |
3 | g.142513551G>C | CA354796870 | ATR | c.4591C>G (p.His1531Asp) n.4620C>G c.3381C>G c.4399C>G (p.His1467Asp) n.55C>G c.4597C>G (p.His1533Asp) c.4405C>G (p.His1469Asp) n.4686C>G n.4680C>G | |
3 | g.142513551G>T | CA354796869 | ATR | c.4591C>A (p.His1531Asn) n.4620C>A c.3381C>A c.4399C>A (p.His1467Asn) n.55C>A c.4597C>A (p.His1533Asn) c.4405C>A (p.His1469Asn) n.4686C>A n.4680C>A | |
3 | g.142513552T>A | CA436106434 | ATR | c.4590A>T (p.Pro1530=) n.4619A>T c.3380A>T c.4398A>T (p.Pro1466=) n.54A>T c.4596A>T (p.Pro1532=) c.4404A>T (p.Pro1468=) n.4685A>T n.4679A>T | |
3 | g.142513552T>C | CA436106435 | ATR | c.4590A>G (p.Pro1530=) n.4619A>G c.3380A>G c.4398A>G (p.Pro1466=) n.54A>G c.4596A>G (p.Pro1532=) c.4404A>G (p.Pro1468=) n.4685A>G n.4679A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.142513552T>G | CA436106436 | ATR | c.4590A>C (p.Pro1530=) n.4619A>C c.3380A>C c.4398A>C (p.Pro1466=) n.54A>C c.4596A>C (p.Pro1532=) c.4404A>C (p.Pro1468=) n.4685A>C n.4679A>C | |
3 | g.142513552T= | CA1407011064 | ATR | c.4590A= (p.Pro1530=) n.4619A= c.3380A= c.4398A= (p.Pro1466=) n.54A= c.4596A= (p.Pro1532=) c.4404A= (p.Pro1468=) n.4685A= n.4679A= | |
3 | g.142513553G>A | CA354796872 | ATR | c.4589C>T (p.Pro1530Leu) n.4618C>T c.3379C>T c.4397C>T (p.Pro1466Leu) n.53C>T c.4595C>T (p.Pro1532Leu) c.4403C>T (p.Pro1468Leu) n.4684C>T n.4678C>T | dbSNP |
3 | g.142513553G>C | CA354796875 | ATR | c.4589C>G (p.Pro1530Arg) n.4618C>G c.3379C>G c.4397C>G (p.Pro1466Arg) n.53C>G c.4595C>G (p.Pro1532Arg) c.4403C>G (p.Pro1468Arg) n.4684C>G n.4678C>G | |
3 | g.142513553G>T | CA354796874 | ATR | c.4589C>A (p.Pro1530Gln) n.4618C>A c.3379C>A c.4397C>A (p.Pro1466Gln) n.53C>A c.4595C>A (p.Pro1532Gln) c.4403C>A (p.Pro1468Gln) n.4684C>A n.4678C>A | |
3 | g.142513554G>A | CA354796876 | ATR | c.4588C>T (p.Pro1530Ser) n.4617C>T c.3378C>T c.4396C>T (p.Pro1466Ser) n.52C>T c.4594C>T (p.Pro1532Ser) c.4402C>T (p.Pro1468Ser) n.4683C>T n.4677C>T | |
3 | g.142513554G>C | CA354796878 | ATR | c.4588C>G (p.Pro1530Ala) n.4617C>G c.3378C>G c.4396C>G (p.Pro1466Ala) n.52C>G c.4594C>G (p.Pro1532Ala) c.4402C>G (p.Pro1468Ala) n.4683C>G n.4677C>G | dbSNP |
3 | g.142513554G>T | CA354796879 | ATR | c.4588C>A (p.Pro1530Thr) n.4617C>A c.3378C>A c.4396C>A (p.Pro1466Thr) n.52C>A c.4594C>A (p.Pro1532Thr) c.4402C>A (p.Pro1468Thr) n.4683C>A n.4677C>A | |
3 | g.142513559_142513561del | CA2758701848 | ATR | c.4586_4588del (p.Leu1529del) n.4615_4617del c.3376_3378del c.4394_4396del (p.Leu1465del) n.50_52del c.4592_4594del (p.Leu1531del) c.4400_4402del (p.Leu1467del) n.4681_4683del n.4675_4677del | |
3 | g.142513555A= | CA1407011065 | ATR | c.4587T= (p.Leu1529=) n.4616T= c.3377T= c.4395T= (p.Leu1465=) n.51T= c.4593T= (p.Leu1531=) c.4401T= (p.Leu1467=) n.4682T= n.4676T= | |
3 | g.142513555A>C | CA436106437 | ATR | c.4587T>G (p.Leu1529=) n.4616T>G c.3377T>G c.4395T>G (p.Leu1465=) n.51T>G c.4593T>G (p.Leu1531=) c.4401T>G (p.Leu1467=) n.4682T>G n.4676T>G | |
3 | g.142513555A>G | CA436106438 | ATR | c.4587T>C (p.Leu1529=) n.4616T>C c.3377T>C c.4395T>C (p.Leu1465=) n.51T>C c.4593T>C (p.Leu1531=) c.4401T>C (p.Leu1467=) n.4682T>C n.4676T>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.142513555A>T | CA436106439 | ATR | c.4587T>A (p.Leu1529=) n.4616T>A c.3377T>A c.4395T>A (p.Leu1465=) n.51T>A c.4593T>A (p.Leu1531=) c.4401T>A (p.Leu1467=) n.4682T>A n.4676T>A | |
3 | g.142513556A>C | CA354796881 | ATR | c.4586T>G (p.Leu1529Arg) n.4615T>G c.3376T>G c.4394T>G (p.Leu1465Arg) n.50T>G c.4592T>G (p.Leu1531Arg) c.4400T>G (p.Leu1467Arg) n.4681T>G n.4675T>G | |
3 | g.142513556A>G | CA354796883 | ATR | c.4586T>C (p.Leu1529Pro) n.4615T>C c.3376T>C c.4394T>C (p.Leu1465Pro) n.50T>C c.4592T>C (p.Leu1531Pro) c.4400T>C (p.Leu1467Pro) n.4681T>C n.4675T>C | |
3 | g.142513556A>T | CA354796884 | ATR | c.4586T>A (p.Leu1529His) n.4615T>A c.3376T>A c.4394T>A (p.Leu1465His) n.50T>A c.4592T>A (p.Leu1531His) c.4400T>A (p.Leu1467His) n.4681T>A n.4675T>A | |
3 | g.142513557G>A | CA354796886 | ATR | c.4585C>T (p.Leu1529Phe) n.4614C>T c.3375C>T c.4393C>T (p.Leu1465Phe) n.49C>T c.4591C>T (p.Leu1531Phe) c.4399C>T (p.Leu1467Phe) n.4680C>T n.4674C>T | dbSNP |
3 | g.142513557G>C | CA354796887 | ATR | c.4585C>G (p.Leu1529Val) n.4614C>G c.3375C>G c.4393C>G (p.Leu1465Val) n.49C>G c.4591C>G (p.Leu1531Val) c.4399C>G (p.Leu1467Val) n.4680C>G n.4674C>G | gnomAD v4 |
3 | g.142513557G>T | CA354796889 | ATR | c.4585C>A (p.Leu1529Ile) n.4614C>A c.3375C>A c.4393C>A (p.Leu1465Ile) n.49C>A c.4591C>A (p.Leu1531Ile) c.4399C>A (p.Leu1467Ile) n.4680C>A n.4674C>A | |
3 | g.142513558A>C | CA436106440 | ATR | c.4584T>G (p.Leu1528=) n.4613T>G c.3374T>G c.4392T>G (p.Leu1464=) n.48T>G c.4590T>G (p.Leu1530=) c.4398T>G (p.Leu1466=) n.4679T>G n.4673T>G | |
3 | g.142513558A>G | CA436106442 | ATR | c.4584T>C (p.Leu1528=) n.4613T>C c.3374T>C c.4392T>C (p.Leu1464=) n.48T>C c.4590T>C (p.Leu1530=) c.4398T>C (p.Leu1466=) n.4679T>C n.4673T>C | ClinVar |
3 | g.142513558A>T | CA436106441 | ATR | c.4584T>A (p.Leu1528=) n.4613T>A c.3374T>A c.4392T>A (p.Leu1464=) n.48T>A c.4590T>A (p.Leu1530=) c.4398T>A (p.Leu1466=) n.4679T>A n.4673T>A | |
3 | g.142513558_142513561del | CA2668041693 | ATR | c.4581_4584del (p.Leu1528PhefsTer28) n.4610_4613del c.3371_3374del c.4389_4392del (p.Leu1464PhefsTer28) n.45_48del c.4587_4590del (p.Leu1530PhefsTer28) c.4395_4398del (p.Leu1466PhefsTer28) n.4676_4679del n.4670_4673del | gnomAD v4 |
3 | g.142513559A>C | CA354796890 | ATR | c.4583T>G (p.Leu1528Arg) n.4612T>G c.3373T>G c.4391T>G (p.Leu1464Arg) n.47T>G c.4589T>G (p.Leu1530Arg) c.4397T>G (p.Leu1466Arg) n.4678T>G n.4672T>G | ClinVar |
3 | g.142513559A>G | CA354796892 | ATR | c.4583T>C (p.Leu1528Pro) n.4612T>C c.3373T>C c.4391T>C (p.Leu1464Pro) n.47T>C c.4589T>C (p.Leu1530Pro) c.4397T>C (p.Leu1466Pro) n.4678T>C n.4672T>C | |
3 | g.142513559A>T | CA354796893 | ATR | c.4583T>A (p.Leu1528His) n.4612T>A c.3373T>A c.4391T>A (p.Leu1464His) n.47T>A c.4589T>A (p.Leu1530His) c.4397T>A (p.Leu1466His) n.4678T>A n.4672T>A | |
3 | g.142513560G>A | CA354796895 | ATR | c.4582C>T (p.Leu1528Phe) n.4611C>T c.3372C>T c.4390C>T (p.Leu1464Phe) n.46C>T c.4588C>T (p.Leu1530Phe) c.4396C>T (p.Leu1466Phe) n.4677C>T n.4671C>T | |
3 | g.142513560G>C | CA354796898 | ATR | c.4582C>G (p.Leu1528Val) n.4611C>G c.3372C>G c.4390C>G (p.Leu1464Val) n.46C>G c.4588C>G (p.Leu1530Val) c.4396C>G (p.Leu1466Val) n.4677C>G n.4671C>G | |
3 | g.142513560G>T | CA354796897 | ATR | c.4582C>A (p.Leu1528Ile) n.4611C>A c.3372C>A c.4390C>A (p.Leu1464Ile) n.46C>A c.4588C>A (p.Leu1530Ile) c.4396C>A (p.Leu1466Ile) n.4677C>A n.4671C>A | COSMIC |
3 | g.142513561A= | CA1407011066 | ATR | c.4581T= (p.Tyr1527=) n.4610T= c.3371T= c.4389T= (p.Tyr1463=) n.45T= c.4587T= (p.Tyr1529=) c.4395T= (p.Tyr1465=) n.4676T= n.4670T= | |
3 | g.142513561A>C | CA354796900 | ATR | c.4581T>G (p.Tyr1527Ter) n.4610T>G c.3371T>G c.4389T>G (p.Tyr1463Ter) n.45T>G c.4587T>G (p.Tyr1529Ter) c.4395T>G (p.Tyr1465Ter) n.4676T>G n.4670T>G | |
3 | g.142513561A>G | CA436106443 | ATR | c.4581T>C (p.Tyr1527=) n.4610T>C c.3371T>C c.4389T>C (p.Tyr1463=) n.45T>C c.4587T>C (p.Tyr1529=) c.4395T>C (p.Tyr1465=) n.4676T>C n.4670T>C | |
3 | g.142513561A>T | CA354796902 | ATR | c.4581T>A (p.Tyr1527Ter) n.4610T>A c.3371T>A c.4389T>A (p.Tyr1463Ter) n.45T>A c.4587T>A (p.Tyr1529Ter) c.4395T>A (p.Tyr1465Ter) n.4676T>A n.4670T>A | dbSNP gnomAD v4 |
3 | g.142513562T>A | CA354796904 | ATR | c.4580A>T (p.Tyr1527Phe) n.4609A>T c.3370A>T c.4388A>T (p.Tyr1463Phe) n.44A>T c.4586A>T (p.Tyr1529Phe) c.4394A>T (p.Tyr1465Phe) n.4675A>T n.4669A>T | |
3 | g.142513562T>C | CA2649814 | ATR | c.4580A>G (p.Tyr1527Cys) n.4609A>G c.3370A>G c.4388A>G (p.Tyr1463Cys) n.44A>G c.4586A>G (p.Tyr1529Cys) c.4394A>G (p.Tyr1465Cys) n.4675A>G n.4669A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.142513562T>G | CA354796905 | ATR | c.4580A>C (p.Tyr1527Ser) n.4609A>C c.3370A>C c.4388A>C (p.Tyr1463Ser) n.44A>C c.4586A>C (p.Tyr1529Ser) c.4394A>C (p.Tyr1465Ser) n.4675A>C n.4669A>C | ClinVar |
3 | g.142513562T= | CA1407011067 | ATR | c.4580A= (p.Tyr1527=) n.4609A= c.3370A= c.4388A= (p.Tyr1463=) n.44A= c.4586A= (p.Tyr1529=) c.4394A= (p.Tyr1465=) n.4675A= n.4669A= | |
3 | g.142513563A= | CA1407011068 | ATR | c.4579T= (p.Tyr1527=) n.4608T= c.3369T= c.4387T= (p.Tyr1463=) n.43T= c.4585T= (p.Tyr1529=) c.4393T= (p.Tyr1465=) n.4674T= n.4668T= | |
3 | g.142513563A>C | CA354796908 | ATR | c.4579T>G (p.Tyr1527Asp) n.4608T>G c.3369T>G c.4387T>G (p.Tyr1463Asp) n.43T>G c.4585T>G (p.Tyr1529Asp) c.4393T>G (p.Tyr1465Asp) n.4674T>G n.4668T>G | |
3 | g.142513563A>G | CA2649815 | ATR | c.4579T>C (p.Tyr1527His) n.4608T>C c.3369T>C c.4387T>C (p.Tyr1463His) n.43T>C c.4585T>C (p.Tyr1529His) c.4393T>C (p.Tyr1465His) n.4674T>C n.4668T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.142513563A>T | CA354796910 | ATR | c.4579T>A (p.Tyr1527Asn) n.4608T>A c.3369T>A c.4387T>A (p.Tyr1463Asn) n.43T>A c.4585T>A (p.Tyr1529Asn) c.4393T>A (p.Tyr1465Asn) n.4674T>A n.4668T>A | |
3 | g.142513564G>A | CA436106444 | ATR | c.4578C>T (p.Ile1526=) n.4607C>T c.3368C>T c.4386C>T (p.Ile1462=) n.42C>T c.4584C>T (p.Ile1528=) c.4392C>T (p.Ile1464=) n.4673C>T n.4667C>T | |
3 | g.142513564G>C | CA354796911 | ATR | c.4578C>G (p.Ile1526Met) n.4607C>G c.3368C>G c.4386C>G (p.Ile1462Met) n.42C>G c.4584C>G (p.Ile1528Met) c.4392C>G (p.Ile1464Met) n.4673C>G n.4667C>G | |
3 | g.142513564G>T | CA436106445 | ATR | c.4578C>A (p.Ile1526=) n.4607C>A c.3368C>A c.4386C>A (p.Ile1462=) n.42C>A c.4584C>A (p.Ile1528=) c.4392C>A (p.Ile1464=) n.4673C>A n.4667C>A | gnomAD v4 |
3 | g.142513565A>C | CA354796917 | ATR | c.4577T>G (p.Ile1526Ser) n.4606T>G c.3367T>G c.4385T>G (p.Ile1462Ser) n.41T>G c.4583T>G (p.Ile1528Ser) c.4391T>G (p.Ile1464Ser) n.4672T>G n.4666T>G | |
3 | g.142513565A>G | CA354796915 | ATR | c.4577T>C (p.Ile1526Thr) n.4606T>C c.3367T>C c.4385T>C (p.Ile1462Thr) n.41T>C c.4583T>C (p.Ile1528Thr) c.4391T>C (p.Ile1464Thr) n.4672T>C n.4666T>C | |
3 | g.142513565A>T | CA354796913 | ATR | c.4577T>A (p.Ile1526Asn) n.4606T>A c.3367T>A c.4385T>A (p.Ile1462Asn) n.41T>A c.4583T>A (p.Ile1528Asn) c.4391T>A (p.Ile1464Asn) n.4672T>A n.4666T>A | |
3 | g.142513566T>A | CA354796918 | ATR | c.4576A>T (p.Ile1526Phe) n.4605A>T c.3366A>T c.4384A>T (p.Ile1462Phe) n.40A>T c.4582A>T (p.Ile1528Phe) c.4390A>T (p.Ile1464Phe) n.4671A>T n.4665A>T | |
3 | g.142513566T>C | CA2649816 | ATR | c.4576A>G (p.Ile1526Val) n.4605A>G c.3366A>G c.4384A>G (p.Ile1462Val) n.40A>G c.4582A>G (p.Ile1528Val) c.4390A>G (p.Ile1464Val) n.4671A>G n.4665A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.142513566T>G | CA354796920 | ATR | c.4576A>C (p.Ile1526Leu) n.4605A>C c.3366A>C c.4384A>C (p.Ile1462Leu) n.40A>C c.4582A>C (p.Ile1528Leu) c.4390A>C (p.Ile1464Leu) n.4671A>C n.4665A>C | |
3 | g.142513566T= | CA1407011069 | ATR | c.4576A= (p.Ile1526=) n.4605A= c.3366A= c.4384A= (p.Ile1462=) n.40A= c.4582A= (p.Ile1528=) c.4390A= (p.Ile1464=) n.4671A= n.4665A= | |
3 | g.142513567G>A | CA2649817 | ATR | c.4575C>T (p.Thr1525=) n.4604C>T c.3365C>T c.4383C>T (p.Thr1461=) n.39C>T c.4581C>T (p.Thr1527=) c.4389C>T (p.Thr1463=) n.4670C>T n.4664C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.142513567G>C | CA436106446 | ATR | c.4575C>G (p.Thr1525=) n.4604C>G c.3365C>G c.4383C>G (p.Thr1461=) n.39C>G c.4581C>G (p.Thr1527=) c.4389C>G (p.Thr1463=) n.4670C>G n.4664C>G | |
3 | g.142513567G= | CA1407011070 | ATR | c.4575C= (p.Thr1525=) n.4604C= c.3365C= c.4383C= (p.Thr1461=) n.39C= c.4581C= (p.Thr1527=) c.4389C= (p.Thr1463=) n.4670C= n.4664C= | |
3 | g.142513567G>T | CA436106448 | ATR | c.4575C>A (p.Thr1525=) n.4604C>A c.3365C>A c.4383C>A (p.Thr1461=) n.39C>A c.4581C>A (p.Thr1527=) c.4389C>A (p.Thr1463=) n.4670C>A n.4664C>A | gnomAD v4 |
3 | g.142513568G>A | CA354796923 | ATR | c.4574C>T (p.Thr1525Ile) n.4603C>T c.3364C>T c.4382C>T (p.Thr1461Ile) n.38C>T c.4580C>T (p.Thr1527Ile) c.4388C>T (p.Thr1463Ile) n.4669C>T n.4663C>T | |
3 | g.142513568G>C | CA354796925 | ATR | c.4574C>G (p.Thr1525Ser) n.4603C>G c.3364C>G c.4382C>G (p.Thr1461Ser) n.38C>G c.4580C>G (p.Thr1527Ser) c.4388C>G (p.Thr1463Ser) n.4669C>G n.4663C>G | |
3 | g.142513568G>T | CA354796926 | ATR | c.4574C>A (p.Thr1525Asn) n.4603C>A c.3364C>A c.4382C>A (p.Thr1461Asn) n.38C>A c.4580C>A (p.Thr1527Asn) c.4388C>A (p.Thr1463Asn) n.4669C>A n.4663C>A | |
3 | g.142513569T>A | CA354796928 | ATR | c.4573A>T (p.Thr1525Ser) n.4602A>T c.3363A>T c.4381A>T (p.Thr1461Ser) n.37A>T c.4579A>T (p.Thr1527Ser) c.4387A>T (p.Thr1463Ser) n.4668A>T n.4662A>T | |
3 | g.142513569T>C | CA354796929 | ATR | c.4573A>G (p.Thr1525Ala) n.4602A>G c.3363A>G c.4381A>G (p.Thr1461Ala) n.37A>G c.4579A>G (p.Thr1527Ala) c.4387A>G (p.Thr1463Ala) n.4668A>G n.4662A>G | gnomAD v4 |
3 | g.142513569T>G | CA354796931 | ATR | c.4573A>C (p.Thr1525Pro) n.4602A>C c.3363A>C c.4381A>C (p.Thr1461Pro) n.37A>C c.4579A>C (p.Thr1527Pro) c.4387A>C (p.Thr1463Pro) n.4668A>C n.4662A>C | |
3 | g.142513570C>A | CA436106449 | ATR | c.4572G>T (p.Val1524=) n.4601G>T c.3362G>T c.4380G>T (p.Val1460=) n.36G>T c.4578G>T (p.Val1526=) c.4386G>T (p.Val1462=) n.4667G>T n.4661G>T | |
3 | g.142513570C= | CA1407011071 | ATR | c.4572G= (p.Val1524=) n.4601G= c.3362G= c.4380G= (p.Val1460=) n.36G= c.4578G= (p.Val1526=) c.4386G= (p.Val1462=) n.4667G= n.4661G= | |
3 | g.142513570C>G | CA436106451 | ATR | c.4572G>C (p.Val1524=) n.4601G>C c.3362G>C c.4380G>C (p.Val1460=) n.36G>C c.4578G>C (p.Val1526=) c.4386G>C (p.Val1462=) n.4667G>C n.4661G>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.142513570C>T | CA436106450 | ATR | c.4572G>A (p.Val1524=) n.4601G>A c.3362G>A c.4380G>A (p.Val1460=) n.36G>A c.4578G>A (p.Val1526=) c.4386G>A (p.Val1462=) n.4667G>A n.4661G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.142513571A>C | CA354796933 | ATR | c.4571T>G (p.Val1524Gly) n.4600T>G c.3361T>G c.4379T>G (p.Val1460Gly) n.35T>G c.4577T>G (p.Val1526Gly) c.4385T>G (p.Val1462Gly) n.4666T>G n.4660T>G | |
3 | g.142513571A>G | CA354796935 | ATR | c.4571T>C (p.Val1524Ala) n.4600T>C c.3361T>C c.4379T>C (p.Val1460Ala) n.35T>C c.4577T>C (p.Val1526Ala) c.4385T>C (p.Val1462Ala) n.4666T>C n.4660T>C | |
3 | g.142513571A>T | CA354796936 | ATR | c.4571T>A (p.Val1524Glu) n.4600T>A c.3361T>A c.4379T>A (p.Val1460Glu) n.35T>A c.4577T>A (p.Val1526Glu) c.4385T>A (p.Val1462Glu) n.4666T>A n.4660T>A | |
3 | g.142513572C>A | CA354796937 | ATR | c.4570G>T (p.Val1524Leu) n.4599G>T c.3360G>T c.4378G>T (p.Val1460Leu) n.34G>T c.4576G>T (p.Val1526Leu) c.4384G>T (p.Val1462Leu) n.4665G>T n.4659G>T | |
3 | g.142513572C= | CA1407011072 | ATR | c.4570G= (p.Val1524=) n.4599G= c.3360G= c.4378G= (p.Val1460=) n.34G= c.4576G= (p.Val1526=) c.4384G= (p.Val1462=) n.4665G= n.4659G= | |
3 | g.142513572C>G | CA354796940 | ATR | c.4570G>C (p.Val1524Leu) n.4599G>C c.3360G>C c.4378G>C (p.Val1460Leu) n.34G>C c.4576G>C (p.Val1526Leu) c.4384G>C (p.Val1462Leu) n.4665G>C n.4659G>C | |
3 | g.142513572C>T | CA354796938 | ATR | c.4570G>A (p.Val1524Met) n.4599G>A c.3360G>A c.4378G>A (p.Val1460Met) n.34G>A c.4576G>A (p.Val1526Met) c.4384G>A (p.Val1462Met) n.4665G>A n.4659G>A | dbSNP gnomAD v3 gnomAD v4 |
3 | g.142513573T>A | CA354796942 | ATR | c.4569A>T (p.Lys1523Asn) n.4598A>T c.3359A>T c.4377A>T (p.Lys1459Asn) n.33A>T c.4575A>T (p.Lys1525Asn) c.4383A>T (p.Lys1461Asn) n.4664A>T n.4658A>T | |
3 | g.142513573T>C | CA436106452 | ATR | c.4569A>G (p.Lys1523=) n.4598A>G c.3359A>G c.4377A>G (p.Lys1459=) n.33A>G c.4575A>G (p.Lys1525=) c.4383A>G (p.Lys1461=) n.4664A>G n.4658A>G | |
3 | g.142513573T>G | CA354796943 | ATR | c.4569A>C (p.Lys1523Asn) n.4598A>C c.3359A>C c.4377A>C (p.Lys1459Asn) n.33A>C c.4575A>C (p.Lys1525Asn) c.4383A>C (p.Lys1461Asn) n.4664A>C n.4658A>C | |
3 | g.142513574T>A | CA354796945 | ATR | c.4568A>T (p.Lys1523Ile) n.4597A>T c.3358A>T c.4376A>T (p.Lys1459Ile) n.32A>T c.4574A>T (p.Lys1525Ile) c.4382A>T (p.Lys1461Ile) n.4663A>T n.4657A>T | ClinVar |
3 | g.142513574T>C | CA354796946 | ATR | c.4568A>G (p.Lys1523Arg) n.4597A>G c.3358A>G c.4376A>G (p.Lys1459Arg) n.32A>G c.4574A>G (p.Lys1525Arg) c.4382A>G (p.Lys1461Arg) n.4663A>G n.4657A>G | |
3 | g.142513574T>G | CA354796948 | ATR | c.4568A>C (p.Lys1523Thr) n.4597A>C c.3358A>C c.4376A>C (p.Lys1459Thr) n.32A>C c.4574A>C (p.Lys1525Thr) c.4382A>C (p.Lys1461Thr) n.4663A>C n.4657A>C | |
3 | g.142513575T>A | CA354796950 | ATR | c.4567A>T (p.Lys1523Ter) n.4596A>T c.3357A>T c.4375A>T (p.Lys1459Ter) n.31A>T c.4573A>T (p.Lys1525Ter) c.4381A>T (p.Lys1461Ter) n.4662A>T n.4656A>T | |
3 | g.142513575T>C | CA354796951 | ATR | c.4567A>G (p.Lys1523Glu) n.4596A>G c.3357A>G c.4375A>G (p.Lys1459Glu) n.31A>G c.4573A>G (p.Lys1525Glu) c.4381A>G (p.Lys1461Glu) n.4662A>G n.4656A>G | |
3 | g.142513575T>G | CA354796952 | ATR | c.4567A>C (p.Lys1523Gln) n.4596A>C c.3357A>C c.4375A>C (p.Lys1459Gln) n.31A>C c.4573A>C (p.Lys1525Gln) c.4381A>C (p.Lys1461Gln) n.4662A>C n.4656A>C | |
3 | g.142513576G>A | CA436106453 | ATR | c.4566C>T (p.Phe1522=) n.4595C>T c.3356C>T c.4374C>T (p.Phe1458=) n.30C>T c.4572C>T (p.Phe1524=) c.4380C>T (p.Phe1460=) n.4661C>T n.4655C>T | |
3 | g.142513576G>C | CA354796953 | ATR | c.4566C>G (p.Phe1522Leu) n.4595C>G c.3356C>G c.4374C>G (p.Phe1458Leu) n.30C>G c.4572C>G (p.Phe1524Leu) c.4380C>G (p.Phe1460Leu) n.4661C>G n.4655C>G | |
3 | g.142513576G>T | CA354796954 | ATR | c.4566C>A (p.Phe1522Leu) n.4595C>A c.3356C>A c.4374C>A (p.Phe1458Leu) n.30C>A c.4572C>A (p.Phe1524Leu) c.4380C>A (p.Phe1460Leu) n.4661C>A n.4655C>A | |
3 | g.142513577A>C | CA354796958 | ATR | c.4565T>G (p.Phe1522Cys) n.4594T>G c.3355T>G c.4373T>G (p.Phe1458Cys) n.29T>G c.4571T>G (p.Phe1524Cys) c.4379T>G (p.Phe1460Cys) n.4660T>G n.4654T>G | |
3 | g.142513577A>G | CA354796960 | ATR | c.4565T>C (p.Phe1522Ser) n.4594T>C c.3355T>C c.4373T>C (p.Phe1458Ser) n.29T>C c.4571T>C (p.Phe1524Ser) c.4379T>C (p.Phe1460Ser) n.4660T>C n.4654T>C | |
3 | g.142513577A>T | CA354796956 | ATR | c.4565T>A (p.Phe1522Tyr) n.4594T>A c.3355T>A c.4373T>A (p.Phe1458Tyr) n.29T>A c.4571T>A (p.Phe1524Tyr) c.4379T>A (p.Phe1460Tyr) n.4660T>A n.4654T>A | |
3 | g.142513578A>C | CA354796964 | ATR | c.4564T>G (p.Phe1522Val) n.4593T>G c.3354T>G c.4372T>G (p.Phe1458Val) n.28T>G c.4570T>G (p.Phe1524Val) c.4378T>G (p.Phe1460Val) n.4659T>G n.4653T>G | |
3 | g.142513578A>G | CA354796961 | ATR | c.4564T>C (p.Phe1522Leu) n.4593T>C c.3354T>C c.4372T>C (p.Phe1458Leu) n.28T>C c.4570T>C (p.Phe1524Leu) c.4378T>C (p.Phe1460Leu) n.4659T>C n.4653T>C | |
3 | g.142513578A>T | CA354796963 | ATR | c.4564T>A (p.Phe1522Ile) n.4593T>A c.3354T>A c.4372T>A (p.Phe1458Ile) n.28T>A c.4570T>A (p.Phe1524Ile) c.4378T>A (p.Phe1460Ile) n.4659T>A n.4653T>A | |
3 | g.142513579A= | CA1407011073 | ATR | c.4563T= (p.Asp1521=) n.4592T= c.3353T= c.4371T= (p.Asp1457=) n.27T= c.4569T= (p.Asp1523=) c.4377T= (p.Asp1459=) n.4658T= n.4652T= | |
3 | g.142513579A>C | CA354796966 | ATR | c.4563T>G (p.Asp1521Glu) n.4592T>G c.3353T>G c.4371T>G (p.Asp1457Glu) n.27T>G c.4569T>G (p.Asp1523Glu) c.4377T>G (p.Asp1459Glu) n.4658T>G n.4652T>G | |
3 | g.142513579A>G | CA436106454 | ATR | c.4563T>C (p.Asp1521=) n.4592T>C c.3353T>C c.4371T>C (p.Asp1457=) n.27T>C c.4569T>C (p.Asp1523=) c.4377T>C (p.Asp1459=) n.4658T>C n.4652T>C | dbSNP |
3 | g.142513579A>T | CA354796968 | ATR | c.4563T>A (p.Asp1521Glu) n.4592T>A c.3353T>A c.4371T>A (p.Asp1457Glu) n.27T>A c.4569T>A (p.Asp1523Glu) c.4377T>A (p.Asp1459Glu) n.4658T>A n.4652T>A | |
3 | g.142513580T>A | CA354796969 | ATR | c.4562A>T (p.Asp1521Val) n.4591A>T c.3352A>T c.4370A>T (p.Asp1457Val) n.26A>T c.4568A>T (p.Asp1523Val) c.4376A>T (p.Asp1459Val) n.4657A>T n.4651A>T | |
3 | g.142513580T>C | CA354796971 | ATR | c.4562A>G (p.Asp1521Gly) n.4591A>G c.3352A>G c.4370A>G (p.Asp1457Gly) n.26A>G c.4568A>G (p.Asp1523Gly) c.4376A>G (p.Asp1459Gly) n.4657A>G n.4651A>G | dbSNP gnomAD v3 gnomAD v4 |
3 | g.142513580T>G | CA354796972 | ATR | c.4562A>C (p.Asp1521Ala) n.4591A>C c.3352A>C c.4370A>C (p.Asp1457Ala) n.26A>C c.4568A>C (p.Asp1523Ala) c.4376A>C (p.Asp1459Ala) n.4657A>C n.4651A>C | ClinVar dbSNP gnomAD v4 |
3 | g.142513580T= | CA1407011074 | ATR | c.4562A= (p.Asp1521=) n.4591A= c.3352A= c.4370A= (p.Asp1457=) n.26A= c.4568A= (p.Asp1523=) c.4376A= (p.Asp1459=) n.4657A= n.4651A= | |
3 | g.142513581C>A | CA354796974 | ATR | c.4561G>T (p.Asp1521Tyr) n.4590G>T c.3351G>T c.4369G>T (p.Asp1457Tyr) n.25G>T c.4567G>T (p.Asp1523Tyr) c.4375G>T (p.Asp1459Tyr) n.4656G>T n.4650G>T | |
3 | g.142513581C>G | CA354796975 | ATR | c.4561G>C (p.Asp1521His) n.4590G>C c.3351G>C c.4369G>C (p.Asp1457His) n.25G>C c.4567G>C (p.Asp1523His) c.4375G>C (p.Asp1459His) n.4656G>C n.4650G>C | |
3 | g.142513581C>T | CA354796977 | ATR | c.4561G>A (p.Asp1521Asn) n.4590G>A c.3351G>A c.4369G>A (p.Asp1457Asn) n.25G>A c.4567G>A (p.Asp1523Asn) c.4375G>A (p.Asp1459Asn) n.4656G>A n.4650G>A | |
3 | g.142513582A>C | CA354796979 | ATR | c.4560T>G (p.His1520Gln) n.4589T>G c.3350T>G c.4368T>G (p.His1456Gln) n.24T>G c.4566T>G (p.His1522Gln) c.4374T>G (p.His1458Gln) n.4655T>G n.4649T>G | |
3 | g.142513582A>G | CA436106455 | ATR | c.4560T>C (p.His1520=) n.4589T>C c.3350T>C c.4368T>C (p.His1456=) n.24T>C c.4566T>C (p.His1522=) c.4374T>C (p.His1458=) n.4655T>C n.4649T>C | |
3 | g.142513582A>T | CA354796980 | ATR | c.4560T>A (p.His1520Gln) n.4589T>A c.3350T>A c.4368T>A (p.His1456Gln) n.24T>A c.4566T>A (p.His1522Gln) c.4374T>A (p.His1458Gln) n.4655T>A n.4649T>A | |
3 | g.142513583T>A | CA354796986 | ATR | c.4559A>T (p.His1520Leu) n.4588A>T c.3349A>T c.4367A>T (p.His1456Leu) n.23A>T c.4565A>T (p.His1522Leu) c.4373A>T (p.His1458Leu) n.4654A>T n.4648A>T | |
3 | g.142513583T>C | CA354796982 | ATR | c.4559A>G (p.His1520Arg) n.4588A>G c.3349A>G c.4367A>G (p.His1456Arg) n.23A>G c.4565A>G (p.His1522Arg) c.4373A>G (p.His1458Arg) n.4654A>G n.4648A>G | gnomAD v4 |
3 | g.142513583T>G | CA354796984 | ATR | c.4559A>C (p.His1520Pro) n.4588A>C c.3349A>C c.4367A>C (p.His1456Pro) n.23A>C c.4565A>C (p.His1522Pro) c.4373A>C (p.His1458Pro) n.4654A>C n.4648A>C | |
3 | g.142513584G>A | CA354796987 | ATR | c.4558C>T (p.His1520Tyr) n.4587C>T c.3348C>T c.4366C>T (p.His1456Tyr) n.22C>T c.4564C>T (p.His1522Tyr) c.4372C>T (p.His1458Tyr) n.4653C>T n.4647C>T | |
3 | g.142513584G>C | CA354796988 | ATR | c.4558C>G (p.His1520Asp) n.4587C>G c.3348C>G c.4366C>G (p.His1456Asp) n.22C>G c.4564C>G (p.His1522Asp) c.4372C>G (p.His1458Asp) n.4653C>G n.4647C>G | |
3 | g.142513584G>T | CA354796990 | ATR | c.4558C>A (p.His1520Asn) n.4587C>A c.3348C>A c.4366C>A (p.His1456Asn) n.22C>A c.4564C>A (p.His1522Asn) c.4372C>A (p.His1458Asn) n.4653C>A n.4647C>A | |
3 | g.142513585C>A | CA354796992 | ATR | c.4557G>T (p.Lys1519Asn) n.4586G>T c.3347G>T c.4365G>T (p.Lys1455Asn) n.21G>T c.4563G>T (p.Lys1521Asn) c.4371G>T (p.Lys1457Asn) n.4652G>T n.4646G>T | gnomAD v4 |
3 | g.142513585C>G | CA354796994 | ATR | c.4557G>C (p.Lys1519Asn) n.4586G>C c.3347G>C c.4365G>C (p.Lys1455Asn) n.21G>C c.4563G>C (p.Lys1521Asn) c.4371G>C (p.Lys1457Asn) n.4652G>C n.4646G>C | |
3 | g.142513585C>T | CA436106457 | ATR | c.4557G>A (p.Lys1519=) n.4586G>A c.3347G>A c.4365G>A (p.Lys1455=) n.21G>A c.4563G>A (p.Lys1521=) c.4371G>A (p.Lys1457=) n.4652G>A n.4646G>A | gnomAD v4 |
3 | g.142513586T>A | CA354796996 | ATR | c.4556A>T (p.Lys1519Met) n.4585A>T c.3346A>T c.4364A>T (p.Lys1455Met) n.20A>T c.4562A>T (p.Lys1521Met) c.4370A>T (p.Lys1457Met) n.4651A>T n.4645A>T | |
3 | g.142513586T>C | CA354796997 | ATR | c.4556A>G (p.Lys1519Arg) n.4585A>G c.3346A>G c.4364A>G (p.Lys1455Arg) n.20A>G c.4562A>G (p.Lys1521Arg) c.4370A>G (p.Lys1457Arg) n.4651A>G n.4645A>G | ClinVar |
3 | g.142513586T>G | CA354796999 | ATR | c.4556A>C (p.Lys1519Thr) n.4585A>C c.3346A>C c.4364A>C (p.Lys1455Thr) n.20A>C c.4562A>C (p.Lys1521Thr) c.4370A>C (p.Lys1457Thr) n.4651A>C n.4645A>C | |
3 | g.142513587T>A | CA354797001 | ATR | c.4555A>T (p.Lys1519Ter) n.4584A>T c.3345A>T c.4363A>T (p.Lys1455Ter) n.19A>T c.4561A>T (p.Lys1521Ter) c.4369A>T (p.Lys1457Ter) n.4650A>T n.4644A>T | |
3 | g.142513587T>C | CA354797002 | ATR | c.4555A>G (p.Lys1519Glu) n.4584A>G c.3345A>G c.4363A>G (p.Lys1455Glu) n.19A>G c.4561A>G (p.Lys1521Glu) c.4369A>G (p.Lys1457Glu) n.4650A>G n.4644A>G | |
3 | g.142513587T>G | CA354797004 | ATR | c.4555A>C (p.Lys1519Gln) n.4584A>C c.3345A>C c.4363A>C (p.Lys1455Gln) n.19A>C c.4561A>C (p.Lys1521Gln) c.4369A>C (p.Lys1457Gln) n.4650A>C n.4644A>C | |
3 | g.142513588C>A | CA354797007 | ATR | c.4554G>T (p.Met1518Ile) n.4583G>T c.3344G>T c.4362G>T (p.Met1454Ile) n.18G>T c.4560G>T (p.Met1520Ile) c.4368G>T (p.Met1456Ile) n.4649G>T n.4643G>T | |
3 | g.142513588C>G | CA354797009 | ATR | c.4554G>C (p.Met1518Ile) n.4583G>C c.3344G>C c.4362G>C (p.Met1454Ile) n.18G>C c.4560G>C (p.Met1520Ile) c.4368G>C (p.Met1456Ile) n.4649G>C n.4643G>C | |
3 | g.142513588C>T | CA354797006 | ATR | c.4554G>A (p.Met1518Ile) n.4583G>A c.3344G>A c.4362G>A (p.Met1454Ile) n.18G>A c.4560G>A (p.Met1520Ile) c.4368G>A (p.Met1456Ile) n.4649G>A n.4643G>A | ClinVar |
3 | g.142513589A>C | CA354797010 | ATR | c.4553T>G (p.Met1518Arg) n.4582T>G c.3343T>G c.4361T>G (p.Met1454Arg) n.17T>G c.4559T>G (p.Met1520Arg) c.4367T>G (p.Met1456Arg) n.4648T>G n.4642T>G | COSMIC |
3 | g.142513589A>G | CA354797011 | ATR | c.4553T>C (p.Met1518Thr) n.4582T>C c.3343T>C c.4361T>C (p.Met1454Thr) n.17T>C c.4559T>C (p.Met1520Thr) c.4367T>C (p.Met1456Thr) n.4648T>C n.4642T>C | |
3 | g.142513589A>T | CA354797013 | ATR | c.4553T>A (p.Met1518Lys) n.4582T>A c.3343T>A c.4361T>A (p.Met1454Lys) n.17T>A c.4559T>A (p.Met1520Lys) c.4367T>A (p.Met1456Lys) n.4648T>A n.4642T>A | |
3 | g.142513590T>A | CA354797014 | ATR | c.4552A>T (p.Met1518Leu) n.4581A>T c.3342A>T c.4360A>T (p.Met1454Leu) n.16A>T c.4558A>T (p.Met1520Leu) c.4366A>T (p.Met1456Leu) n.4647A>T n.4641A>T | gnomAD v4 |
3 | g.142513590T>C | CA354797015 | ATR | c.4552A>G (p.Met1518Val) n.4581A>G c.3342A>G c.4360A>G (p.Met1454Val) n.16A>G c.4558A>G (p.Met1520Val) c.4366A>G (p.Met1456Val) n.4647A>G n.4641A>G | |
3 | g.142513590T>G | CA354797017 | ATR | c.4552A>C (p.Met1518Leu) n.4581A>C c.3342A>C c.4360A>C (p.Met1454Leu) n.16A>C c.4558A>C (p.Met1520Leu) c.4366A>C (p.Met1456Leu) n.4647A>C n.4641A>C | |
3 | g.142513591C>A | CA354797019 | ATR | c.4551G>T (p.Met1517Ile) n.4580G>T c.3341G>T c.4359G>T (p.Met1453Ile) n.15G>T c.4557G>T (p.Met1519Ile) c.4365G>T (p.Met1455Ile) n.4646G>T n.4640G>T | |
3 | g.142513591C>G | CA354797021 | ATR | c.4551G>C (p.Met1517Ile) n.4580G>C c.3341G>C c.4359G>C (p.Met1453Ile) n.15G>C c.4557G>C (p.Met1519Ile) c.4365G>C (p.Met1455Ile) n.4646G>C n.4640G>C | |
3 | g.142513591C>T | CA354797022 | ATR | c.4551G>A (p.Met1517Ile) n.4580G>A c.3341G>A c.4359G>A (p.Met1453Ile) n.15G>A c.4557G>A (p.Met1519Ile) c.4365G>A (p.Met1455Ile) n.4646G>A n.4640G>A | gnomAD v4 COSMIC |
3 | g.142513592A= | CA1407011075 | ATR | c.4550T= (p.Met1517=) n.4579T= c.3340T= c.4358T= (p.Met1453=) n.14T= c.4556T= (p.Met1519=) c.4364T= (p.Met1455=) n.4645T= n.4639T= | |
3 | g.142513592A>C | CA354797024 | ATR | c.4550T>G (p.Met1517Arg) n.4579T>G c.3340T>G c.4358T>G (p.Met1453Arg) n.14T>G c.4556T>G (p.Met1519Arg) c.4364T>G (p.Met1455Arg) n.4645T>G n.4639T>G | |
3 | g.142513592A>G | CA354797026 | ATR | c.4550T>C (p.Met1517Thr) n.4579T>C c.3340T>C c.4358T>C (p.Met1453Thr) n.14T>C c.4556T>C (p.Met1519Thr) c.4364T>C (p.Met1455Thr) n.4645T>C n.4639T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.142513592A>T | CA354797027 | ATR | c.4550T>A (p.Met1517Lys) n.4579T>A c.3340T>A c.4358T>A (p.Met1453Lys) n.14T>A c.4556T>A (p.Met1519Lys) c.4364T>A (p.Met1455Lys) n.4645T>A n.4639T>A | |
3 | g.142513593T>A | CA354797031 | ATR | c.4549A>T (p.Met1517Leu) n.4578A>T c.3339A>T c.4357A>T (p.Met1453Leu) n.13A>T c.4555A>T (p.Met1519Leu) c.4363A>T (p.Met1455Leu) n.4644A>T n.4638A>T | |
3 | g.142513593T>C | CA354797032 | ATR | c.4549A>G (p.Met1517Val) n.4578A>G c.3339A>G c.4357A>G (p.Met1453Val) n.13A>G c.4555A>G (p.Met1519Val) c.4363A>G (p.Met1455Val) n.4644A>G n.4638A>G | ClinVar gnomAD v4 |
3 | g.142513593T>G | CA354797029 | ATR | c.4549A>C (p.Met1517Leu) n.4578A>C c.3339A>C c.4357A>C (p.Met1453Leu) n.13A>C c.4555A>C (p.Met1519Leu) c.4363A>C (p.Met1455Leu) n.4644A>C n.4638A>C | |
3 | g.142513594A>C | CA354797034 | ATR | c.4548T>G (p.Ile1516Met) n.4577T>G c.3338T>G c.4356T>G (p.Ile1452Met) n.12T>G c.4554T>G (p.Ile1518Met) c.4362T>G (p.Ile1454Met) n.4643T>G n.4637T>G | |
3 | g.142513594A>G | CA436106458 | ATR | c.4548T>C (p.Ile1516=) n.4577T>C c.3338T>C c.4356T>C (p.Ile1452=) n.12T>C c.4554T>C (p.Ile1518=) c.4362T>C (p.Ile1454=) n.4643T>C n.4637T>C | |
3 | g.142513594A>T | CA436106459 | ATR | c.4548T>A (p.Ile1516=) n.4577T>A c.3338T>A c.4356T>A (p.Ile1452=) n.12T>A c.4554T>A (p.Ile1518=) c.4362T>A (p.Ile1454=) n.4643T>A n.4637T>A | |
3 | g.142513595A>C | CA354797035 | ATR | c.4547T>G (p.Ile1516Ser) n.4576T>G c.3337T>G c.4355T>G (p.Ile1452Ser) n.11T>G c.4553T>G (p.Ile1518Ser) c.4361T>G (p.Ile1454Ser) n.4642T>G n.4636T>G | |
3 | g.142513595A>G | CA354797037 | ATR | c.4547T>C (p.Ile1516Thr) n.4576T>C c.3337T>C c.4355T>C (p.Ile1452Thr) n.11T>C c.4553T>C (p.Ile1518Thr) c.4361T>C (p.Ile1454Thr) n.4642T>C n.4636T>C | |
3 | g.142513595A>T | CA354797038 | ATR | c.4547T>A (p.Ile1516Asn) n.4576T>A c.3337T>A c.4355T>A (p.Ile1452Asn) n.11T>A c.4553T>A (p.Ile1518Asn) c.4361T>A (p.Ile1454Asn) n.4642T>A n.4636T>A | |
3 | g.142513596T>A | CA354797040 | ATR | c.4546A>T (p.Ile1516Phe) n.4575A>T c.3336A>T c.4354A>T (p.Ile1452Phe) n.10A>T c.4552A>T (p.Ile1518Phe) c.4360A>T (p.Ile1454Phe) n.4641A>T n.4635A>T | |
3 | g.142513596T>C | CA354797041 | ATR | c.4546A>G (p.Ile1516Val) n.4575A>G c.3336A>G c.4354A>G (p.Ile1452Val) n.10A>G c.4552A>G (p.Ile1518Val) c.4360A>G (p.Ile1454Val) n.4641A>G n.4635A>G | |
3 | g.142513596T>G | CA354797043 | ATR | c.4546A>C (p.Ile1516Leu) n.4575A>C c.3336A>C c.4354A>C (p.Ile1452Leu) n.10A>C c.4552A>C (p.Ile1518Leu) c.4360A>C (p.Ile1454Leu) n.4641A>C n.4635A>C | |
3 | g.142513597G>A | CA436106460 | ATR | c.4545C>T (p.Ser1515=) n.4574C>T c.3335C>T c.4353C>T (p.Ser1451=) n.9C>T c.4551C>T (p.Ser1517=) c.4359C>T (p.Ser1453=) n.4640C>T n.4634C>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.142513597G>C | CA354797045 | ATR | c.4545C>G (p.Ser1515Arg) n.4574C>G c.3335C>G c.4353C>G (p.Ser1451Arg) n.9C>G c.4551C>G (p.Ser1517Arg) c.4359C>G (p.Ser1453Arg) n.4640C>G n.4634C>G | |
3 | g.142513597G= | CA1407011076 | ATR | c.4545C= (p.Ser1515=) n.4574C= c.3335C= c.4353C= (p.Ser1451=) n.9C= c.4551C= (p.Ser1517=) c.4359C= (p.Ser1453=) n.4640C= n.4634C= | |
3 | g.142513597G>T | CA354797046 | ATR | c.4545C>A (p.Ser1515Arg) n.4574C>A c.3335C>A c.4353C>A (p.Ser1451Arg) n.9C>A c.4551C>A (p.Ser1517Arg) c.4359C>A (p.Ser1453Arg) n.4640C>A n.4634C>A | |
3 | g.142513598C>A | CA354797048 | ATR | c.4544G>T (p.Ser1515Ile) n.4573G>T c.3334G>T c.4352G>T (p.Ser1451Ile) n.8G>T c.4550G>T (p.Ser1517Ile) c.4358G>T (p.Ser1453Ile) n.4639G>T n.4633G>T | |
3 | g.142513598C= | CA1407011077 | ATR | c.4544G= (p.Ser1515=) n.4573G= c.3334G= c.4352G= (p.Ser1451=) n.8G= c.4550G= (p.Ser1517=) c.4358G= (p.Ser1453=) n.4639G= n.4633G= | |
3 | g.142513598C>G | CA354797050 | ATR | c.4544G>C (p.Ser1515Thr) n.4573G>C c.3334G>C c.4352G>C (p.Ser1451Thr) n.8G>C c.4550G>C (p.Ser1517Thr) c.4358G>C (p.Ser1453Thr) n.4639G>C n.4633G>C | |
3 | g.142513598C>T | CA354797052 | ATR | c.4544G>A (p.Ser1515Asn) n.4573G>A c.3334G>A c.4352G>A (p.Ser1451Asn) n.8G>A c.4550G>A (p.Ser1517Asn) c.4358G>A (p.Ser1453Asn) n.4639G>A n.4633G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.142513599T>A | CA354797053 | ATR | c.4543A>T (p.Ser1515Cys) n.4572A>T c.3333A>T c.4351A>T (p.Ser1451Cys) n.7A>T c.4549A>T (p.Ser1517Cys) c.4357A>T (p.Ser1453Cys) n.4638A>T n.4632A>T | |
3 | g.142513599T>C | CA354797055 | ATR | c.4543A>G (p.Ser1515Gly) n.4572A>G c.3333A>G c.4351A>G (p.Ser1451Gly) n.7A>G c.4549A>G (p.Ser1517Gly) c.4357A>G (p.Ser1453Gly) n.4638A>G n.4632A>G | |
3 | g.142513599T>G | CA354797057 | ATR | c.4543A>C (p.Ser1515Arg) n.4572A>C c.3333A>C c.4351A>C (p.Ser1451Arg) n.7A>C c.4549A>C (p.Ser1517Arg) c.4357A>C (p.Ser1453Arg) n.4638A>C n.4632A>C | |
3 | g.142513600A>C | CA354797058 | ATR | c.4542T>G (p.Cys1514Trp) n.4571T>G c.3332T>G c.4350T>G (p.Cys1450Trp) n.6T>G c.4548T>G (p.Cys1516Trp) c.4356T>G (p.Cys1452Trp) n.4637T>G n.4631T>G | |
3 | g.142513600A>G | CA436106461 | ATR | c.4542T>C (p.Cys1514=) n.4571T>C c.3332T>C c.4350T>C (p.Cys1450=) n.6T>C c.4548T>C (p.Cys1516=) c.4356T>C (p.Cys1452=) n.4637T>C n.4631T>C | |
3 | g.142513600A>T | CA354797060 | ATR | c.4542T>A (p.Cys1514Ter) n.4571T>A c.3332T>A c.4350T>A (p.Cys1450Ter) n.6T>A c.4548T>A (p.Cys1516Ter) c.4356T>A (p.Cys1452Ter) n.4637T>A n.4631T>A | |
3 | g.142513601C>A | CA354797062 | ATR | c.4541G>T (p.Cys1514Phe) n.4570G>T c.3331G>T c.4349G>T (p.Cys1450Phe) n.5G>T c.4547G>T (p.Cys1516Phe) c.4355G>T (p.Cys1452Phe) n.4636G>T n.4630G>T | COSMIC |
3 | g.142513601C>G | CA354797065 | ATR | c.4541G>C (p.Cys1514Ser) n.4570G>C c.3331G>C c.4349G>C (p.Cys1450Ser) n.5G>C c.4547G>C (p.Cys1516Ser) c.4355G>C (p.Cys1452Ser) n.4636G>C n.4630G>C | |
3 | g.142513601C>T | CA354797064 | ATR | c.4541G>A (p.Cys1514Tyr) n.4570G>A c.3331G>A c.4349G>A (p.Cys1450Tyr) n.5G>A c.4547G>A (p.Cys1516Tyr) c.4355G>A (p.Cys1452Tyr) n.4636G>A n.4630G>A | gnomAD v4 |
3 | g.142513602A>C | CA354797067 | ATR | c.4540T>G (p.Cys1514Gly) n.4569T>G c.3330T>G c.4348T>G (p.Cys1450Gly) n.4T>G c.4546T>G (p.Cys1516Gly) c.4354T>G (p.Cys1452Gly) n.4635T>G n.4629T>G | |
3 | g.142513602A>G | CA354797069 | ATR | c.4540T>C (p.Cys1514Arg) n.4569T>C c.3330T>C c.4348T>C (p.Cys1450Arg) n.4T>C c.4546T>C (p.Cys1516Arg) c.4354T>C (p.Cys1452Arg) n.4635T>C n.4629T>C | ClinVar dbSNP gnomAD v4 |
3 | g.142513602A>T | CA354797070 | ATR | c.4540T>A (p.Cys1514Ser) n.4569T>A c.3330T>A c.4348T>A (p.Cys1450Ser) n.4T>A c.4546T>A (p.Cys1516Ser) c.4354T>A (p.Cys1452Ser) n.4635T>A n.4629T>A | |
3 | g.142513603G>A | CA436106463 | ATR | c.4539C>T (p.Cys1513=) n.4568C>T c.3329C>T c.4347C>T (p.Cys1449=) n.3C>T c.4545C>T (p.Cys1515=) c.4353C>T (p.Cys1451=) n.4634C>T n.4628C>T | |
3 | g.142513603G>C | CA354797072 | ATR | c.4539C>G (p.Cys1513Trp) n.4568C>G c.3329C>G c.4347C>G (p.Cys1449Trp) n.3C>G c.4545C>G (p.Cys1515Trp) c.4353C>G (p.Cys1451Trp) n.4634C>G n.4628C>G | |
3 | g.142513603G>T | CA354797074 | ATR | c.4539C>A (p.Cys1513Ter) n.4568C>A c.3329C>A c.4347C>A (p.Cys1449Ter) n.3C>A c.4545C>A (p.Cys1515Ter) c.4353C>A (p.Cys1451Ter) n.4634C>A n.4628C>A | |
3 | g.142513604C>A | CA354797079 | ATR | c.4538G>T (p.Cys1513Phe) n.4567G>T c.3328G>T c.4346G>T (p.Cys1449Phe) n.2G>T c.4544G>T (p.Cys1515Phe) c.4352G>T (p.Cys1451Phe) n.4633G>T n.4627G>T | dbSNP |
3 | g.142513604C>G | CA354797077 | ATR | c.4538G>C (p.Cys1513Ser) n.4567G>C c.3328G>C c.4346G>C (p.Cys1449Ser) n.2G>C c.4544G>C (p.Cys1515Ser) c.4352G>C (p.Cys1451Ser) n.4633G>C n.4627G>C | |
3 | g.142513604C>T | CA354797076 | ATR | c.4538G>A (p.Cys1513Tyr) n.4567G>A c.3328G>A c.4346G>A (p.Cys1449Tyr) n.2G>A c.4544G>A (p.Cys1515Tyr) c.4352G>A (p.Cys1451Tyr) n.4633G>A n.4627G>A |