Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.142513510_142513513delinsATCTCA1407011047ATRc.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
3g.142513515_142513517delCA2649807ATRc.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
3g.142513513T>ACA354796722ATRc.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
3g.142513513T>CCA436106254ATRc.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
3g.142513513T>GCA354796724ATRc.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
3g.142513514T>ACA354796729ATRc.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
3g.142513514T>CCA354796726ATRc.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
3g.142513514T>GCA354796727ATRc.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
3g.142513515C>ACA354796731ATRc.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
3g.142513515C>GCA354796732ATRc.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
3g.142513515C>TCA354796734ATRc.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
3g.142513516T>ACA354796735ATRc.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
3g.142513516T>CCA436106258ATRc.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
3g.142513516T>GCA354796737ATRc.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
3g.142513516T=CA1407011048ATRc.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=
3g.142513517T>ACA354796739ATRc.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
3g.142513517T>CCA354796741ATRc.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
3g.142513517T>GCA2649808ATRc.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
3g.142513517T=CA1407011049ATRc.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=
3g.142513518G>ACA354796742ATRc.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
3g.142513518G>CCA354796743ATRc.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
3g.142513518G>TCA354796744ATRc.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
3g.142513519A>CCA354796745ATRc.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
3g.142513519A>GCA436106259ATRc.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
3g.142513519A>TCA354796746ATRc.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
3g.142513520T>ACA354796749ATRc.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
3g.142513520T>CCA354796751ATRc.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
3g.142513520T>GCA354796748ATRc.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
3g.142513521T>ACA354796753ATRc.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
3g.142513521T>CCA354796756ATRc.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
3g.142513521T>GCA354796754ATRc.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
3g.142513522A>CCA354796758ATRc.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
3g.142513522A>GCA436106264ATRc.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
3g.142513522A>TCA354796760ATRc.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
3g.142513523C>ACA354796761ATRc.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
3g.142513523C=CA1407011050ATRc.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=
3g.142513523C>GCA354796762ATRc.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
3g.142513523C>TCA354796764ATRc.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
3g.142513524A>CCA354796766ATRc.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
3g.142513524A>GCA354796768ATRc.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
3g.142513524A>TCA354796770ATRc.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
3g.142513525A>CCA436106267ATRc.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
3g.142513525A>GCA436106269ATRc.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
3g.142513525A>TCA436106273ATRc.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
3g.142513527_142513540delCA2577925128ATRc.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
3g.142513526C>ACA354796773ATRc.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
3g.142513526C=CA1407011051ATRc.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=
3g.142513526C>GCA354796775ATRc.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
3g.142513526C>TCA354796778ATRc.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
3g.142513526_142513541delinsCCCAGTAAGACATACACA1407011052ATRc.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
3g.142513527C>ACA354796784ATRc.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
3g.142513527C=CA1407011053ATRc.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=
3g.142513527C>GCA354796780ATRc.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
3g.142513527C>TCA2649809ATRc.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
3g.142513531_142513545delCA436106281ATRc.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
3g.142513528C>ACA436106284ATRc.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
3g.142513528C>GCA436106289ATRc.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
3g.142513528C>TCA436106292ATRc.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
3g.142513529A=CA1407011054ATRc.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=
3g.142513529A>CCA354796787ATRc.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
3g.142513529A>GCA354796789ATRc.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
3g.142513529A>TCA84719225ATRc.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
3g.142513530G>ACA2649810ATRc.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
3g.142513530G>CCA354796792ATRc.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
3g.142513530G=CA1407011055ATRc.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=
3g.142513530G>TCA354796793ATRc.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
3g.142513531T>ACA354796795ATRc.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
3g.142513531T>CCA436106301ATRc.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
3g.142513531T>GCA354796796ATRc.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
3g.142513531T=CA1407011056ATRc.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=
3g.142513532A>CCA354796798ATRc.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
3g.142513532A>GCA354796800ATRc.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
3g.142513532A>TCA354796801ATRc.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
3g.142513533A>CCA354796804ATRc.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
3g.142513533A>GCA436106311ATRc.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
3g.142513533A>TCA354796803ATRc.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
3g.142513534G>ACA436106313ATRc.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
3g.142513534G>CCA436106314ATRc.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
3g.142513534G>TCA436106315ATRc.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
3g.142513535A>CCA354796806ATRc.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
3g.142513535A>GCA354796807ATRc.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
3g.142513535A>TCA354796809ATRc.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
3g.142513536C>ACA354796811ATRc.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
3g.142513536C=CA1407011057ATRc.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=
3g.142513536C>GCA354796812ATRc.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
3g.142513536C>TCA354796814ATRc.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
3g.142513537A>CCA354796816ATRc.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
3g.142513537A>GCA436106323ATRc.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
3g.142513537A>TCA354796818ATRc.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
3g.142513538T>ACA354796819ATRc.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
3g.142513538T>CCA354796820ATRc.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
3g.142513538T>GCA354796822ATRc.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
3g.142513538T=CA1407011058ATRc.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=
3g.142513539A>CCA354796824ATRc.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
3g.142513539A>GCA354796826ATRc.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
3g.142513539A>TCA354796827ATRc.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
3g.142513540C>ACA436106427ATRc.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
3g.142513540C=CA1407011059ATRc.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=
3g.142513540C>GCA436106426ATRc.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
3g.142513540C>TCA2649811ATRc.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
3g.142513541A>CCA354796830ATRc.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
3g.142513541A>GCA354796831ATRc.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
3g.142513541A>TCA354796832ATRc.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
3g.142513542C>ACA354796835ATRc.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
3g.142513542C>GCA354796836ATRc.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
3g.142513542C>TCA354796838ATRc.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
3g.142513543C>ACA2649812ATRc.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
3g.142513543C=CA1407011060ATRc.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=
3g.142513543C>GCA436106429ATRc.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
3g.142513543C>TCA436106428ATRc.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
3g.142513544A>CCA354796840ATRc.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
3g.142513544A>GCA354796842ATRc.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
3g.142513544A>TCA354796844ATRc.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
3g.142513545G>ACA436106430ATRc.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
3g.142513545G>CCA354796845ATRc.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
3g.142513545G=CA1407011061ATRc.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=
3g.142513545G>TCA354796847ATRc.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
3g.142513546A=CA1407011062ATRc.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=
3g.142513546A>CCA354796849ATRc.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
 dbSNP gnomAD v2 gnomAD v4
3g.142513546A>GCA436106431ATRc.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
3g.142513546A>TCA436106432ATRc.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
3g.142513547A>CCA354796854ATRc.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
3g.142513547A>GCA354796852ATRc.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
3g.142513547A>TCA354796850ATRc.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
3g.142513548T>ACA354796856ATRc.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
3g.142513548T>CCA354796859ATRc.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
3g.142513548T>GCA354796857ATRc.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
3g.142513549A>CCA354796861ATRc.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
3g.142513549A>GCA436106433ATRc.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
3g.142513549A>TCA354796862ATRc.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
3g.142513550T>ACA354796864ATRc.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
3g.142513550T>CCA2649813ATRc.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
3g.142513550T>GCA354796865ATRc.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
3g.142513550T=CA1407011063ATRc.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=
3g.142513551G>ACA354796868ATRc.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
3g.142513551G>CCA354796870ATRc.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
3g.142513551G>TCA354796869ATRc.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
3g.142513552T>ACA436106434ATRc.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
3g.142513552T>CCA436106435ATRc.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
3g.142513552T>GCA436106436ATRc.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
3g.142513552T=CA1407011064ATRc.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=
3g.142513553G>ACA354796872ATRc.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
3g.142513553G>CCA354796875ATRc.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
3g.142513553G>TCA354796874ATRc.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
3g.142513554G>ACA354796876ATRc.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
3g.142513554G>CCA354796878ATRc.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
3g.142513554G>TCA354796879ATRc.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
3g.142513559_142513561delCA2758701848ATRc.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
3g.142513555A=CA1407011065ATRc.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=
3g.142513555A>CCA436106437ATRc.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
3g.142513555A>GCA436106438ATRc.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
3g.142513555A>TCA436106439ATRc.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
3g.142513556A>CCA354796881ATRc.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
3g.142513556A>GCA354796883ATRc.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
3g.142513556A>TCA354796884ATRc.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
3g.142513557G>ACA354796886ATRc.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
3g.142513557G>CCA354796887ATRc.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
3g.142513557G>TCA354796889ATRc.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
3g.142513558A>CCA436106440ATRc.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
3g.142513558A>GCA436106442ATRc.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
3g.142513558A>TCA436106441ATRc.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
3g.142513558_142513561delCA2668041693ATRc.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
3g.142513559A>CCA354796890ATRc.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
3g.142513559A>GCA354796892ATRc.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
3g.142513559A>TCA354796893ATRc.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
3g.142513560G>ACA354796895ATRc.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
3g.142513560G>CCA354796898ATRc.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
3g.142513560G>TCA354796897ATRc.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
3g.142513561A=CA1407011066ATRc.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=
3g.142513561A>CCA354796900ATRc.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
3g.142513561A>GCA436106443ATRc.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
3g.142513561A>TCA354796902ATRc.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
3g.142513562T>ACA354796904ATRc.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
3g.142513562T>CCA2649814ATRc.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
3g.142513562T>GCA354796905ATRc.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
3g.142513562T=CA1407011067ATRc.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=
3g.142513563A=CA1407011068ATRc.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=
3g.142513563A>CCA354796908ATRc.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
3g.142513563A>GCA2649815ATRc.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
3g.142513563A>TCA354796910ATRc.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
3g.142513564G>ACA436106444ATRc.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
3g.142513564G>CCA354796911ATRc.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
3g.142513564G>TCA436106445ATRc.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
3g.142513565A>CCA354796917ATRc.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
3g.142513565A>GCA354796915ATRc.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
3g.142513565A>TCA354796913ATRc.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
3g.142513566T>ACA354796918ATRc.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
3g.142513566T>CCA2649816ATRc.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
3g.142513566T>GCA354796920ATRc.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
3g.142513566T=CA1407011069ATRc.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=
3g.142513567G>ACA2649817ATRc.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
3g.142513567G>CCA436106446ATRc.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
3g.142513567G=CA1407011070ATRc.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=
3g.142513567G>TCA436106448ATRc.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
3g.142513568G>ACA354796923ATRc.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
3g.142513568G>CCA354796925ATRc.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
3g.142513568G>TCA354796926ATRc.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
3g.142513569T>ACA354796928ATRc.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
3g.142513569T>CCA354796929ATRc.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
3g.142513569T>GCA354796931ATRc.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
3g.142513570C>ACA436106449ATRc.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
3g.142513570C=CA1407011071ATRc.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=
3g.142513570C>GCA436106451ATRc.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
3g.142513570C>TCA436106450ATRc.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
3g.142513571A>CCA354796933ATRc.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
3g.142513571A>GCA354796935ATRc.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
3g.142513571A>TCA354796936ATRc.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
3g.142513572C>ACA354796937ATRc.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
3g.142513572C=CA1407011072ATRc.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=
3g.142513572C>GCA354796940ATRc.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
3g.142513572C>TCA354796938ATRc.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
3g.142513573T>ACA354796942ATRc.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
3g.142513573T>CCA436106452ATRc.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
3g.142513573T>GCA354796943ATRc.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
3g.142513574T>ACA354796945ATRc.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
3g.142513574T>CCA354796946ATRc.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
3g.142513574T>GCA354796948ATRc.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
3g.142513575T>ACA354796950ATRc.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
3g.142513575T>CCA354796951ATRc.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
3g.142513575T>GCA354796952ATRc.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
3g.142513576G>ACA436106453ATRc.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
3g.142513576G>CCA354796953ATRc.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
3g.142513576G>TCA354796954ATRc.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
3g.142513577A>CCA354796958ATRc.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
3g.142513577A>GCA354796960ATRc.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
3g.142513577A>TCA354796956ATRc.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
3g.142513578A>CCA354796964ATRc.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
3g.142513578A>GCA354796961ATRc.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
3g.142513578A>TCA354796963ATRc.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
3g.142513579A=CA1407011073ATRc.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=
3g.142513579A>CCA354796966ATRc.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
3g.142513579A>GCA436106454ATRc.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
3g.142513579A>TCA354796968ATRc.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
3g.142513580T>ACA354796969ATRc.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
3g.142513580T>CCA354796971ATRc.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
3g.142513580T>GCA354796972ATRc.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
3g.142513580T=CA1407011074ATRc.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=
3g.142513581C>ACA354796974ATRc.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
3g.142513581C>GCA354796975ATRc.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
3g.142513581C>TCA354796977ATRc.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
3g.142513582A>CCA354796979ATRc.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
3g.142513582A>GCA436106455ATRc.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
3g.142513582A>TCA354796980ATRc.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
3g.142513583T>ACA354796986ATRc.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
3g.142513583T>CCA354796982ATRc.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
3g.142513583T>GCA354796984ATRc.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
3g.142513584G>ACA354796987ATRc.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
3g.142513584G>CCA354796988ATRc.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
3g.142513584G>TCA354796990ATRc.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
3g.142513585C>ACA354796992ATRc.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
3g.142513585C>GCA354796994ATRc.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
3g.142513585C>TCA436106457ATRc.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
3g.142513586T>ACA354796996ATRc.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
3g.142513586T>CCA354796997ATRc.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
3g.142513586T>GCA354796999ATRc.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
3g.142513587T>ACA354797001ATRc.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
3g.142513587T>CCA354797002ATRc.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
3g.142513587T>GCA354797004ATRc.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
3g.142513588C>ACA354797007ATRc.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
3g.142513588C>GCA354797009ATRc.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
3g.142513588C>TCA354797006ATRc.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
3g.142513589A>CCA354797010ATRc.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
3g.142513589A>GCA354797011ATRc.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
3g.142513589A>TCA354797013ATRc.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
3g.142513590T>ACA354797014ATRc.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
3g.142513590T>CCA354797015ATRc.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
3g.142513590T>GCA354797017ATRc.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
3g.142513591C>ACA354797019ATRc.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
3g.142513591C>GCA354797021ATRc.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
3g.142513591C>TCA354797022ATRc.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
3g.142513592A=CA1407011075ATRc.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=
3g.142513592A>CCA354797024ATRc.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
3g.142513592A>GCA354797026ATRc.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
3g.142513592A>TCA354797027ATRc.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
3g.142513593T>ACA354797031ATRc.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
3g.142513593T>CCA354797032ATRc.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
3g.142513593T>GCA354797029ATRc.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
3g.142513594A>CCA354797034ATRc.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
3g.142513594A>GCA436106458ATRc.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
3g.142513594A>TCA436106459ATRc.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
3g.142513595A>CCA354797035ATRc.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
3g.142513595A>GCA354797037ATRc.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
3g.142513595A>TCA354797038ATRc.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
3g.142513596T>ACA354797040ATRc.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
3g.142513596T>CCA354797041ATRc.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
3g.142513596T>GCA354797043ATRc.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
3g.142513597G>ACA436106460ATRc.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
3g.142513597G>CCA354797045ATRc.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
3g.142513597G=CA1407011076ATRc.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=
3g.142513597G>TCA354797046ATRc.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
3g.142513598C>ACA354797048ATRc.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
3g.142513598C=CA1407011077ATRc.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=
3g.142513598C>GCA354797050ATRc.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
3g.142513598C>TCA354797052ATRc.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
3g.142513599T>ACA354797053ATRc.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
3g.142513599T>CCA354797055ATRc.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
3g.142513599T>GCA354797057ATRc.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
3g.142513600A>CCA354797058ATRc.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
3g.142513600A>GCA436106461ATRc.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
3g.142513600A>TCA354797060ATRc.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
3g.142513601C>ACA354797062ATRc.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
3g.142513601C>GCA354797065ATRc.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
3g.142513601C>TCA354797064ATRc.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
3g.142513602A>CCA354797067ATRc.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
3g.142513602A>GCA354797069ATRc.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
3g.142513602A>TCA354797070ATRc.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
3g.142513603G>ACA436106463ATRc.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
3g.142513603G>CCA354797072ATRc.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
3g.142513603G>TCA354797074ATRc.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
3g.142513604C>ACA354797079ATRc.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
3g.142513604C>GCA354797077ATRc.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
3g.142513604C>TCA354797076ATRc.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
3g.142513605A>CCA354797081ATRc.4537T>G (p.Cys1513Gly)
n.4566T>G
c.3327T>G
c.4345T>G (p.Cys1449Gly)
n.1T>G
c.4543T>G (p.Cys1515Gly)
c.4351T>G (p.Cys1451Gly)
n.4632T>G
n.4626T>G
3g.142513605A>GCA354797082ATRc.4537T>C (p.Cys1513Arg)
n.4566T>C
c.3327T>C
c.4345T>C (p.Cys1449Arg)
n.1T>C
c.4543T>C (p.Cys1515Arg)
c.4351T>C (p.Cys1451Arg)
n.4632T>C
n.4626T>C
3g.142513605A>TCA354797084ATRc.4537T>A (p.Cys1513Ser)
n.4566T>A
c.3327T>A
c.4345T>A (p.Cys1449Ser)
n.1T>A
c.4543T>A (p.Cys1515Ser)
c.4351T>A (p.Cys1451Ser)
n.4632T>A
n.4626T>A
3g.142513606G>ACA436106468ATRc.4536C>T (p.Thr1512=)
n.4565C>T
c.3326C>T
c.4344C>T (p.Thr1448=)
c.4542C>T (p.Thr1514=)
c.4350C>T (p.Thr1450=)
n.4631C>T
n.4625C>T
3g.142513606G>CCA436106465ATRc.4536C>G (p.Thr1512=)
n.4565C>G
c.3326C>G
c.4344C>G (p.Thr1448=)
c.4542C>G (p.Thr1514=)
c.4350C>G (p.Thr1450=)
n.4631C>G
n.4625C>G
3g.142513606G>TCA436106467ATRc.4536C>A (p.Thr1512=)
n.4565C>A
c.3326C>A
c.4344C>A (p.Thr1448=)
c.4542C>A (p.Thr1514=)
c.4350C>A (p.Thr1450=)
n.4631C>A
n.4625C>A
3g.142513607G>ACA2649818ATRc.4535C>T (p.Thr1512Ile)
n.4564C>T
c.3325C>T
c.4343C>T (p.Thr1448Ile)
c.4541C>T (p.Thr1514Ile)
c.4349C>T (p.Thr1450Ile)
n.4630C>T
n.4624C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.142513607G>CCA354797087ATRc.4535C>G (p.Thr1512Ser)
n.4564C>G
c.3325C>G
c.4343C>G (p.Thr1448Ser)
c.4541C>G (p.Thr1514Ser)
c.4349C>G (p.Thr1450Ser)
n.4630C>G
n.4624C>G
3g.142513607G=CA1407011078ATRc.4535C= (p.Thr1512=)
n.4564C=
c.3325C=
c.4343C= (p.Thr1448=)
c.4541C= (p.Thr1514=)
c.4349C= (p.Thr1450=)
n.4630C=
n.4624C=
3g.142513607G>TCA354797089ATRc.4535C>A (p.Thr1512Asn)
n.4564C>A
c.3325C>A
c.4343C>A (p.Thr1448Asn)
c.4541C>A (p.Thr1514Asn)
c.4349C>A (p.Thr1450Asn)
n.4630C>A
n.4624C>A
3g.142513608T>ACA354797092ATRc.4534A>T (p.Thr1512Ser)
n.4563A>T
c.3324A>T
c.4342A>T (p.Thr1448Ser)
c.4540A>T (p.Thr1514Ser)
c.4348A>T (p.Thr1450Ser)
n.4629A>T
n.4623A>T
 dbSNP
3g.142513608T>CCA354797090ATRc.4534A>G (p.Thr1512Ala)
n.4563A>G
c.3324A>G
c.4342A>G (p.Thr1448Ala)
c.4540A>G (p.Thr1514Ala)
c.4348A>G (p.Thr1450Ala)
n.4629A>G
n.4623A>G
3g.142513608T>GCA354797091ATRc.4534A>C (p.Thr1512Pro)
n.4563A>C
c.3324A>C
c.4342A>C (p.Thr1448Pro)
c.4540A>C (p.Thr1514Pro)
c.4348A>C (p.Thr1450Pro)
n.4629A>C
n.4623A>C
3g.142513608T=CA1407011079ATRc.4534A= (p.Thr1512=)
n.4563A=
c.3324A=
c.4342A= (p.Thr1448=)
c.4540A= (p.Thr1514=)
c.4348A= (p.Thr1450=)
n.4629A=
n.4623A=
3g.142513609G>ACA436106471ATRc.4533C>T (p.Phe1511=)
n.4562C>T
c.3323C>T
c.4341C>T (p.Phe1447=)
c.4539C>T (p.Phe1513=)
c.4347C>T (p.Phe1449=)
n.4628C>T
n.4622C>T
3g.142513609G>CCA354797094ATRc.4533C>G (p.Phe1511Leu)
n.4562C>G
c.3323C>G
c.4341C>G (p.Phe1447Leu)
c.4539C>G (p.Phe1513Leu)
c.4347C>G (p.Phe1449Leu)
n.4628C>G
n.4622C>G
3g.142513609G>TCA354797096ATRc.4533C>A (p.Phe1511Leu)
n.4562C>A
c.3323C>A
c.4341C>A (p.Phe1447Leu)
c.4539C>A (p.Phe1513Leu)
c.4347C>A (p.Phe1449Leu)
n.4628C>A
n.4622C>A
3g.142513610A>CCA354797097ATRc.4532T>G (p.Phe1511Cys)
n.4561T>G
c.3322T>G
c.4340T>G (p.Phe1447Cys)
c.4538T>G (p.Phe1513Cys)
c.4346T>G (p.Phe1449Cys)
n.4627T>G
n.4621T>G
3g.142513610A>GCA354797098ATRc.4532T>C (p.Phe1511Ser)
n.4561T>C
c.3322T>C
c.4340T>C (p.Phe1447Ser)
c.4538T>C (p.Phe1513Ser)
c.4346T>C (p.Phe1449Ser)
n.4627T>C
n.4621T>C
3g.142513610A>TCA354797100ATRc.4532T>A (p.Phe1511Tyr)
n.4561T>A
c.3322T>A
c.4340T>A (p.Phe1447Tyr)
c.4538T>A (p.Phe1513Tyr)
c.4346T>A (p.Phe1449Tyr)
n.4627T>A
n.4621T>A
3g.142513611A>CCA354797102ATRc.4531T>G (p.Phe1511Val)
n.4560T>G
c.3321T>G
c.4339T>G (p.Phe1447Val)
c.4537T>G (p.Phe1513Val)
c.4345T>G (p.Phe1449Val)
n.4626T>G
n.4620T>G
3g.142513611A>GCA354797103ATRc.4531T>C (p.Phe1511Leu)
n.4560T>C
c.3321T>C
c.4339T>C (p.Phe1447Leu)
c.4537T>C (p.Phe1513Leu)
c.4345T>C (p.Phe1449Leu)
n.4626T>C
n.4620T>C
3g.142513611A>TCA354797105ATRc.4531T>A (p.Phe1511Ile)
n.4560T>A
c.3321T>A
c.4339T>A (p.Phe1447Ile)
c.4537T>A (p.Phe1513Ile)
c.4345T>A (p.Phe1449Ile)
n.4626T>A
n.4620T>A
3g.142513612A=CA1407011080ATRc.4530T= (p.Ile1510=)
n.4559T=
c.3320T=
c.4338T= (p.Ile1446=)
c.4536T= (p.Ile1512=)
c.4344T= (p.Ile1448=)
n.4625T=
n.4619T=
3g.142513612A>CCA354797106ATRc.4530T>G (p.Ile1510Met)
n.4559T>G
c.3320T>G
c.4338T>G (p.Ile1446Met)
c.4536T>G (p.Ile1512Met)
c.4344T>G (p.Ile1448Met)
n.4625T>G
n.4619T>G
3g.142513612A>GCA436106476ATRc.4530T>C (p.Ile1510=)
n.4559T>C
c.3320T>C
c.4338T>C (p.Ile1446=)
c.4536T>C (p.Ile1512=)
c.4344T>C (p.Ile1448=)
n.4625T>C
n.4619T>C
 dbSNP
3g.142513612A>TCA436106477ATRc.4530T>A (p.Ile1510=)
n.4559T>A
c.3320T>A
c.4338T>A (p.Ile1446=)
c.4536T>A (p.Ile1512=)
c.4344T>A (p.Ile1448=)
n.4625T>A
n.4619T>A
3g.142513613A=CA1407011081ATRc.4529T= (p.Ile1510=)
n.4558T=
c.3319T=
c.4337T= (p.Ile1446=)
c.4535T= (p.Ile1512=)
c.4343T= (p.Ile1448=)
n.4624T=
n.4618T=
3g.142513613A>CCA354797108ATRc.4529T>G (p.Ile1510Ser)
n.4558T>G
c.3319T>G
c.4337T>G (p.Ile1446Ser)
c.4535T>G (p.Ile1512Ser)
c.4343T>G (p.Ile1448Ser)
n.4624T>G
n.4618T>G
 COSMIC
3g.142513613A>GCA2649819ATRc.4529T>C (p.Ile1510Thr)
n.4558T>C
c.3319T>C
c.4337T>C (p.Ile1446Thr)
c.4535T>C (p.Ile1512Thr)
c.4343T>C (p.Ile1448Thr)
n.4624T>C
n.4618T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.142513613A>TCA354797111ATRc.4529T>A (p.Ile1510Asn)
n.4558T>A
c.3319T>A
c.4337T>A (p.Ile1446Asn)
c.4535T>A (p.Ile1512Asn)
c.4343T>A (p.Ile1448Asn)
n.4624T>A
n.4618T>A

Number of alleles fetched