Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.142515451A=CA1407011982ATRc.4447T= (p.Leu1483=)
n.4476T=
c.3237T=
c.4255T= (p.Leu1419=)
c.4453T= (p.Leu1485=)
c.4261T= (p.Leu1421=)
n.4542T=
n.4536T=
3g.142515451A>CCA354798178ATRc.4447T>G (p.Leu1483Val)
n.4476T>G
c.3237T>G
c.4255T>G (p.Leu1419Val)
c.4453T>G (p.Leu1485Val)
c.4261T>G (p.Leu1421Val)
n.4542T>G
n.4536T>G
3g.142515451A>GCA2649849ATRc.4447T>C (p.Leu1483=)
n.4476T>C
c.3237T>C
c.4255T>C (p.Leu1419=)
c.4453T>C (p.Leu1485=)
c.4261T>C (p.Leu1421=)
n.4542T>C
n.4536T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.142515451A>TCA354798182ATRc.4447T>A (p.Leu1483Met)
n.4476T>A
c.3237T>A
c.4255T>A (p.Leu1419Met)
c.4453T>A (p.Leu1485Met)
c.4261T>A (p.Leu1421Met)
n.4542T>A
n.4536T>A
3g.142515452T>ACA354798188ATRc.4446A>T (p.Lys1482Asn)
n.4475A>T
c.3236A>T
c.4254A>T (p.Lys1418Asn)
c.4452A>T (p.Lys1484Asn)
c.4260A>T (p.Lys1420Asn)
n.4541A>T
n.4535A>T
3g.142515452T>CCA436108117ATRc.4446A>G (p.Lys1482=)
n.4475A>G
c.3236A>G
c.4254A>G (p.Lys1418=)
c.4452A>G (p.Lys1484=)
c.4260A>G (p.Lys1420=)
n.4541A>G
n.4535A>G
3g.142515452T>GCA354798196ATRc.4446A>C (p.Lys1482Asn)
n.4475A>C
c.3236A>C
c.4254A>C (p.Lys1418Asn)
c.4452A>C (p.Lys1484Asn)
c.4260A>C (p.Lys1420Asn)
n.4541A>C
n.4535A>C
3g.142515453T>ACA354798200ATRc.4445A>T (p.Lys1482Ile)
n.4474A>T
c.3235A>T
c.4253A>T (p.Lys1418Ile)
c.4451A>T (p.Lys1484Ile)
c.4259A>T (p.Lys1420Ile)
n.4540A>T
n.4534A>T
 dbSNP
3g.142515453T>CCA2649850ATRc.4445A>G (p.Lys1482Arg)
n.4474A>G
c.3235A>G
c.4253A>G (p.Lys1418Arg)
c.4451A>G (p.Lys1484Arg)
c.4259A>G (p.Lys1420Arg)
n.4540A>G
n.4534A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.142515453T>GCA354798209ATRc.4445A>C (p.Lys1482Thr)
n.4474A>C
c.3235A>C
c.4253A>C (p.Lys1418Thr)
c.4451A>C (p.Lys1484Thr)
c.4259A>C (p.Lys1420Thr)
n.4540A>C
n.4534A>C
3g.142515453T=CA1407011983ATRc.4445A= (p.Lys1482=)
n.4474A=
c.3235A=
c.4253A= (p.Lys1418=)
c.4451A= (p.Lys1484=)
c.4259A= (p.Lys1420=)
n.4540A=
n.4534A=
3g.142515454T>ACA354798213ATRc.4444A>T (p.Lys1482Ter)
n.4473A>T
c.3234A>T
c.4252A>T (p.Lys1418Ter)
c.4450A>T (p.Lys1484Ter)
c.4258A>T (p.Lys1420Ter)
n.4539A>T
n.4533A>T
3g.142515454T>CCA354798215ATRc.4444A>G (p.Lys1482Glu)
n.4473A>G
c.3234A>G
c.4252A>G (p.Lys1418Glu)
c.4450A>G (p.Lys1484Glu)
c.4258A>G (p.Lys1420Glu)
n.4539A>G
n.4533A>G
3g.142515454T>GCA354798220ATRc.4444A>C (p.Lys1482Gln)
n.4473A>C
c.3234A>C
c.4252A>C (p.Lys1418Gln)
c.4450A>C (p.Lys1484Gln)
c.4258A>C (p.Lys1420Gln)
n.4539A>C
n.4533A>C
3g.142515455A>CCA354798225ATRc.4443T>G (p.Ser1481Arg)
n.4472T>G
c.3233T>G
c.4251T>G (p.Ser1417Arg)
c.4449T>G (p.Ser1483Arg)
c.4257T>G (p.Ser1419Arg)
n.4538T>G
n.4532T>G
3g.142515455A>GCA436108128ATRc.4443T>C (p.Ser1481=)
n.4472T>C
c.3233T>C
c.4251T>C (p.Ser1417=)
c.4449T>C (p.Ser1483=)
c.4257T>C (p.Ser1419=)
n.4538T>C
n.4532T>C
3g.142515455A>TCA354798234ATRc.4443T>A (p.Ser1481Arg)
n.4472T>A
c.3233T>A
c.4251T>A (p.Ser1417Arg)
c.4449T>A (p.Ser1483Arg)
c.4257T>A (p.Ser1419Arg)
n.4538T>A
n.4532T>A
3g.142515456C>ACA354798243ATRc.4442G>T (p.Ser1481Ile)
n.4471G>T
c.3232G>T
c.4250G>T (p.Ser1417Ile)
c.4448G>T (p.Ser1483Ile)
c.4256G>T (p.Ser1419Ile)
n.4537G>T
n.4531G>T
3g.142515456C=CA1407011984ATRc.4442G= (p.Ser1481=)
n.4471G=
c.3232G=
c.4250G= (p.Ser1417=)
c.4448G= (p.Ser1483=)
c.4256G= (p.Ser1419=)
n.4537G=
n.4531G=
3g.142515456C>GCA354798256ATRc.4442G>C (p.Ser1481Thr)
n.4471G>C
c.3232G>C
c.4250G>C (p.Ser1417Thr)
c.4448G>C (p.Ser1483Thr)
c.4256G>C (p.Ser1419Thr)
n.4537G>C
n.4531G>C
3g.142515456C>TCA354798240ATRc.4442G>A (p.Ser1481Asn)
n.4471G>A
c.3232G>A
c.4250G>A (p.Ser1417Asn)
c.4448G>A (p.Ser1483Asn)
c.4256G>A (p.Ser1419Asn)
n.4537G>A
n.4531G>A
 ClinVar dbSNP gnomAD v4
3g.142515457T>ACA354798263ATRc.4441A>T (p.Ser1481Cys)
n.4470A>T
c.3231A>T
c.4249A>T (p.Ser1417Cys)
c.4447A>T (p.Ser1483Cys)
c.4255A>T (p.Ser1419Cys)
n.4536A>T
n.4530A>T
 ClinVar gnomAD v4
3g.142515457T>CCA354798258ATRc.4441A>G (p.Ser1481Gly)
n.4470A>G
c.3231A>G
c.4249A>G (p.Ser1417Gly)
c.4447A>G (p.Ser1483Gly)
c.4255A>G (p.Ser1419Gly)
n.4536A>G
n.4530A>G
3g.142515457T>GCA354798266ATRc.4441A>C (p.Ser1481Arg)
n.4470A>C
c.3231A>C
c.4249A>C (p.Ser1417Arg)
c.4447A>C (p.Ser1483Arg)
c.4255A>C (p.Ser1419Arg)
n.4536A>C
n.4530A>C
3g.142515458T>ACA354798271ATRc.4440A>T (p.Leu1480Phe)
n.4469A>T
c.3230A>T
c.4248A>T (p.Leu1416Phe)
c.4446A>T (p.Leu1482Phe)
c.4254A>T (p.Leu1418Phe)
n.4535A>T
n.4529A>T
3g.142515458T>CCA2649851ATRc.4440A>G (p.Leu1480=)
n.4469A>G
c.3230A>G
c.4248A>G (p.Leu1416=)
c.4446A>G (p.Leu1482=)
c.4254A>G (p.Leu1418=)
n.4535A>G
n.4529A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.142515458T>GCA354798275ATRc.4440A>C (p.Leu1480Phe)
n.4469A>C
c.3230A>C
c.4248A>C (p.Leu1416Phe)
c.4446A>C (p.Leu1482Phe)
c.4254A>C (p.Leu1418Phe)
n.4535A>C
n.4529A>C
3g.142515458T=CA1407011985ATRc.4440A= (p.Leu1480=)
n.4469A=
c.3230A=
c.4248A= (p.Leu1416=)
c.4446A= (p.Leu1482=)
c.4254A= (p.Leu1418=)
n.4535A=
n.4529A=
3g.142515458_142515463delinsTAAGTACA1407011986ATRc.4435_4440delinsTACTTA (p.Tyr1479=)
n.4464_4469delinsTACTTA
c.3225_3230delinsTACTTA
c.4243_4248delinsTACTTA (p.Tyr1415=)
c.4441_4446delinsTACTTA (p.Tyr1481=)
c.4249_4254delinsTACTTA (p.Tyr1417=)
n.4530_4535delinsTACTTA
n.4524_4529delinsTACTTA
3g.142515459A>CCA354798278ATRc.4439T>G (p.Leu1480Ter)
n.4468T>G
c.3229T>G
c.4247T>G (p.Leu1416Ter)
c.4445T>G (p.Leu1482Ter)
c.4253T>G (p.Leu1418Ter)
n.4534T>G
n.4528T>G
3g.142515459A>GCA354798279ATRc.4439T>C (p.Leu1480Ser)
n.4468T>C
c.3229T>C
c.4247T>C (p.Leu1416Ser)
c.4445T>C (p.Leu1482Ser)
c.4253T>C (p.Leu1418Ser)
n.4534T>C
n.4528T>C
3g.142515459A>TCA354798280ATRc.4439T>A (p.Leu1480Ter)
n.4468T>A
c.3229T>A
c.4247T>A (p.Leu1416Ter)
c.4445T>A (p.Leu1482Ter)
c.4253T>A (p.Leu1418Ter)
n.4534T>A
n.4528T>A
3g.142515461_142515465delCA546573555ATRc.4435_4439del (p.Tyr1479LysfsTer2)
n.4464_4468del
c.3225_3229del
c.4243_4247del (p.Tyr1415LysfsTer2)
c.4441_4445del (p.Tyr1481LysfsTer2)
c.4249_4253del (p.Tyr1417LysfsTer2)
n.4530_4534del
n.4524_4528del
 dbSNP gnomAD v2 gnomAD v4
3g.142515460A>CCA354798282ATRc.4438T>G (p.Leu1480Val)
n.4467T>G
c.3228T>G
c.4246T>G (p.Leu1416Val)
c.4444T>G (p.Leu1482Val)
c.4252T>G (p.Leu1418Val)
n.4533T>G
n.4527T>G
3g.142515460A>GCA436108156ATRc.4438T>C (p.Leu1480=)
n.4467T>C
c.3228T>C
c.4246T>C (p.Leu1416=)
c.4444T>C (p.Leu1482=)
c.4252T>C (p.Leu1418=)
n.4533T>C
n.4527T>C
3g.142515460A>TCA354798287ATRc.4438T>A (p.Leu1480Ile)
n.4467T>A
c.3228T>A
c.4246T>A (p.Leu1416Ile)
c.4444T>A (p.Leu1482Ile)
c.4252T>A (p.Leu1418Ile)
n.4533T>A
n.4527T>A
3g.142515461G>ACA436108158ATRc.4437C>T (p.Tyr1479=)
n.4466C>T
c.3227C>T
c.4245C>T (p.Tyr1415=)
c.4443C>T (p.Tyr1481=)
c.4251C>T (p.Tyr1417=)
n.4532C>T
n.4526C>T
 ClinVar
3g.142515461G>CCA354798307ATRc.4437C>G (p.Tyr1479Ter)
n.4466C>G
c.3227C>G
c.4245C>G (p.Tyr1415Ter)
c.4443C>G (p.Tyr1481Ter)
c.4251C>G (p.Tyr1417Ter)
n.4532C>G
n.4526C>G
3g.142515461G>TCA354798308ATRc.4437C>A (p.Tyr1479Ter)
n.4466C>A
c.3227C>A
c.4245C>A (p.Tyr1415Ter)
c.4443C>A (p.Tyr1481Ter)
c.4251C>A (p.Tyr1417Ter)
n.4532C>A
n.4526C>A
3g.142515462T>ACA354798309ATRc.4436A>T (p.Tyr1479Phe)
n.4465A>T
c.3226A>T
c.4244A>T (p.Tyr1415Phe)
c.4442A>T (p.Tyr1481Phe)
c.4250A>T (p.Tyr1417Phe)
n.4531A>T
n.4525A>T
3g.142515462T>CCA354798310ATRc.4436A>G (p.Tyr1479Cys)
n.4465A>G
c.3226A>G
c.4244A>G (p.Tyr1415Cys)
c.4442A>G (p.Tyr1481Cys)
c.4250A>G (p.Tyr1417Cys)
n.4531A>G
n.4525A>G
 gnomAD v4
3g.142515462T>GCA354798313ATRc.4436A>C (p.Tyr1479Ser)
n.4465A>C
c.3226A>C
c.4244A>C (p.Tyr1415Ser)
c.4442A>C (p.Tyr1481Ser)
c.4250A>C (p.Tyr1417Ser)
n.4531A>C
n.4525A>C
3g.142515463A>CCA354798317ATRc.4435T>G (p.Tyr1479Asp)
n.4464T>G
c.3225T>G
c.4243T>G (p.Tyr1415Asp)
c.4441T>G (p.Tyr1481Asp)
c.4249T>G (p.Tyr1417Asp)
n.4530T>G
n.4524T>G
3g.142515463A>GCA354798322ATRc.4435T>C (p.Tyr1479His)
n.4464T>C
c.3225T>C
c.4243T>C (p.Tyr1415His)
c.4441T>C (p.Tyr1481His)
c.4249T>C (p.Tyr1417His)
n.4530T>C
n.4524T>C
 gnomAD v4
3g.142515463A>TCA354798326ATRc.4435T>A (p.Tyr1479Asn)
n.4464T>A
c.3225T>A
c.4243T>A (p.Tyr1415Asn)
c.4441T>A (p.Tyr1481Asn)
c.4249T>A (p.Tyr1417Asn)
n.4530T>A
n.4524T>A
3g.142515464A>CCA354798328ATRc.4434T>G (p.Ile1478Met)
n.4463T>G
c.3224T>G
c.4242T>G (p.Ile1414Met)
c.4440T>G (p.Ile1480Met)
c.4248T>G (p.Ile1416Met)
n.4529T>G
n.4523T>G
3g.142515464A>GCA436108175ATRc.4434T>C (p.Ile1478=)
n.4463T>C
c.3224T>C
c.4242T>C (p.Ile1414=)
c.4440T>C (p.Ile1480=)
c.4248T>C (p.Ile1416=)
n.4529T>C
n.4523T>C
3g.142515464A>TCA436108177ATRc.4434T>A (p.Ile1478=)
n.4463T>A
c.3224T>A
c.4242T>A (p.Ile1414=)
c.4440T>A (p.Ile1480=)
c.4248T>A (p.Ile1416=)
n.4529T>A
n.4523T>A
3g.142515465A>CCA354798338ATRc.4433T>G (p.Ile1478Ser)
n.4462T>G
c.3223T>G
c.4241T>G (p.Ile1414Ser)
c.4439T>G (p.Ile1480Ser)
c.4247T>G (p.Ile1416Ser)
n.4528T>G
n.4522T>G
3g.142515465A>GCA354798342ATRc.4433T>C (p.Ile1478Thr)
n.4462T>C
c.3223T>C
c.4241T>C (p.Ile1414Thr)
c.4439T>C (p.Ile1480Thr)
c.4247T>C (p.Ile1416Thr)
n.4528T>C
n.4522T>C
3g.142515465A>TCA354798349ATRc.4433T>A (p.Ile1478Asn)
n.4462T>A
c.3223T>A
c.4241T>A (p.Ile1414Asn)
c.4439T>A (p.Ile1480Asn)
c.4247T>A (p.Ile1416Asn)
n.4528T>A
n.4522T>A
3g.142515466T>ACA354798361ATRc.4432A>T (p.Ile1478Phe)
n.4461A>T
c.3222A>T
c.4240A>T (p.Ile1414Phe)
c.4438A>T (p.Ile1480Phe)
c.4246A>T (p.Ile1416Phe)
n.4527A>T
n.4521A>T
3g.142515466T>CCA354798363ATRc.4432A>G (p.Ile1478Val)
n.4461A>G
c.3222A>G
c.4240A>G (p.Ile1414Val)
c.4438A>G (p.Ile1480Val)
c.4246A>G (p.Ile1416Val)
n.4527A>G
n.4521A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.142515466T>GCA354798368ATRc.4432A>C (p.Ile1478Leu)
n.4461A>C
c.3222A>C
c.4240A>C (p.Ile1414Leu)
c.4438A>C (p.Ile1480Leu)
c.4246A>C (p.Ile1416Leu)
n.4527A>C
n.4521A>C
3g.142515466T=CA1407011987ATRc.4432A= (p.Ile1478=)
n.4461A=
c.3222A=
c.4240A= (p.Ile1414=)
c.4438A= (p.Ile1480=)
c.4246A= (p.Ile1416=)
n.4527A=
n.4521A=
3g.142515467T>ACA436108192ATRc.4431A>T (p.Pro1477=)
n.4460A>T
c.3221A>T
c.4239A>T (p.Pro1413=)
c.4437A>T (p.Pro1479=)
c.4245A>T (p.Pro1415=)
n.4526A>T
n.4520A>T
 ClinVar gnomAD v4
3g.142515467T>CCA436108194ATRc.4431A>G (p.Pro1477=)
n.4460A>G
c.3221A>G
c.4239A>G (p.Pro1413=)
c.4437A>G (p.Pro1479=)
c.4245A>G (p.Pro1415=)
n.4526A>G
n.4520A>G
 gnomAD v4
3g.142515467T>GCA436108196ATRc.4431A>C (p.Pro1477=)
n.4460A>C
c.3221A>C
c.4239A>C (p.Pro1413=)
c.4437A>C (p.Pro1479=)
c.4245A>C (p.Pro1415=)
n.4526A>C
n.4520A>C
3g.142515468G>ACA354798369ATRc.4430C>T (p.Pro1477Leu)
n.4459C>T
c.3220C>T
c.4238C>T (p.Pro1413Leu)
c.4436C>T (p.Pro1479Leu)
c.4244C>T (p.Pro1415Leu)
n.4525C>T
n.4519C>T
3g.142515468G>CCA354798370ATRc.4430C>G (p.Pro1477Arg)
n.4459C>G
c.3220C>G
c.4238C>G (p.Pro1413Arg)
c.4436C>G (p.Pro1479Arg)
c.4244C>G (p.Pro1415Arg)
n.4525C>G
n.4519C>G
3g.142515468G>TCA354798373ATRc.4430C>A (p.Pro1477Gln)
n.4459C>A
c.3220C>A
c.4238C>A (p.Pro1413Gln)
c.4436C>A (p.Pro1479Gln)
c.4244C>A (p.Pro1415Gln)
n.4525C>A
n.4519C>A
3g.142515469G>ACA354798388ATRc.4429C>T (p.Pro1477Ser)
n.4458C>T
c.3219C>T
c.4237C>T (p.Pro1413Ser)
c.4435C>T (p.Pro1479Ser)
c.4243C>T (p.Pro1415Ser)
n.4524C>T
n.4518C>T
3g.142515469G>CCA354798389ATRc.4429C>G (p.Pro1477Ala)
n.4458C>G
c.3219C>G
c.4237C>G (p.Pro1413Ala)
c.4435C>G (p.Pro1479Ala)
c.4243C>G (p.Pro1415Ala)
n.4524C>G
n.4518C>G
3g.142515469G>TCA354798390ATRc.4429C>A (p.Pro1477Thr)
n.4458C>A
c.3219C>A
c.4237C>A (p.Pro1413Thr)
c.4435C>A (p.Pro1479Thr)
c.4243C>A (p.Pro1415Thr)
n.4524C>A
n.4518C>A
 gnomAD v4
3g.142515470C>ACA354798391ATRc.4428G>T (p.Lys1476Asn)
n.4457G>T
c.3218G>T
c.4236G>T (p.Lys1412Asn)
c.4434G>T (p.Lys1478Asn)
c.4242G>T (p.Lys1414Asn)
n.4523G>T
n.4517G>T
 dbSNP
3g.142515470C>GCA354798396ATRc.4428G>C (p.Lys1476Asn)
n.4457G>C
c.3218G>C
c.4236G>C (p.Lys1412Asn)
c.4434G>C (p.Lys1478Asn)
c.4242G>C (p.Lys1414Asn)
n.4523G>C
n.4517G>C
 ClinVar
3g.142515470C>TCA436108216ATRc.4428G>A (p.Lys1476=)
n.4457G>A
c.3218G>A
c.4236G>A (p.Lys1412=)
c.4434G>A (p.Lys1478=)
c.4242G>A (p.Lys1414=)
n.4523G>A
n.4517G>A
3g.142515471T>ACA354798399ATRc.4427A>T (p.Lys1476Met)
n.4456A>T
c.3217A>T
c.4235A>T (p.Lys1412Met)
c.4433A>T (p.Lys1478Met)
c.4241A>T (p.Lys1414Met)
n.4522A>T
n.4516A>T
 dbSNP gnomAD v3 gnomAD v4
3g.142515471T>CCA354798401ATRc.4427A>G (p.Lys1476Arg)
n.4456A>G
c.3217A>G
c.4235A>G (p.Lys1412Arg)
c.4433A>G (p.Lys1478Arg)
c.4241A>G (p.Lys1414Arg)
n.4522A>G
n.4516A>G
3g.142515471T>GCA354798414ATRc.4427A>C (p.Lys1476Thr)
n.4456A>C
c.3217A>C
c.4235A>C (p.Lys1412Thr)
c.4433A>C (p.Lys1478Thr)
c.4241A>C (p.Lys1414Thr)
n.4522A>C
n.4516A>C
3g.142515471T=CA1407011988ATRc.4427A= (p.Lys1476=)
n.4456A=
c.3217A=
c.4235A= (p.Lys1412=)
c.4433A= (p.Lys1478=)
c.4241A= (p.Lys1414=)
n.4522A=
n.4516A=
3g.142515472T>ACA354798419ATRc.4426A>T (p.Lys1476Ter)
n.4455A>T
c.3216A>T
c.4234A>T (p.Lys1412Ter)
c.4432A>T (p.Lys1478Ter)
c.4240A>T (p.Lys1414Ter)
n.4521A>T
n.4515A>T
3g.142515472T>CCA354798431ATRc.4426A>G (p.Lys1476Glu)
n.4455A>G
c.3216A>G
c.4234A>G (p.Lys1412Glu)
c.4432A>G (p.Lys1478Glu)
c.4240A>G (p.Lys1414Glu)
n.4521A>G
n.4515A>G
3g.142515472T>GCA354798435ATRc.4426A>C (p.Lys1476Gln)
n.4455A>C
c.3216A>C
c.4234A>C (p.Lys1412Gln)
c.4432A>C (p.Lys1478Gln)
c.4240A>C (p.Lys1414Gln)
n.4521A>C
n.4515A>C
 ClinVar
3g.142515473C>ACA354798452ATRc.4425G>T (p.Lys1475Asn)
n.4454G>T
c.3215G>T
c.4233G>T (p.Lys1411Asn)
c.4431G>T (p.Lys1477Asn)
c.4239G>T (p.Lys1413Asn)
n.4520G>T
n.4514G>T
 gnomAD v4
3g.142515473C>GCA354798448ATRc.4425G>C (p.Lys1475Asn)
n.4454G>C
c.3215G>C
c.4233G>C (p.Lys1411Asn)
c.4431G>C (p.Lys1477Asn)
c.4239G>C (p.Lys1413Asn)
n.4520G>C
n.4514G>C
3g.142515473C>TCA436108235ATRc.4425G>A (p.Lys1475=)
n.4454G>A
c.3215G>A
c.4233G>A (p.Lys1411=)
c.4431G>A (p.Lys1477=)
c.4239G>A (p.Lys1413=)
n.4520G>A
n.4514G>A
3g.142515474T>ACA354798474ATRc.4424A>T (p.Lys1475Met)
n.4453A>T
c.3214A>T
c.4232A>T (p.Lys1411Met)
c.4430A>T (p.Lys1477Met)
c.4238A>T (p.Lys1413Met)
n.4519A>T
n.4513A>T
3g.142515474T>CCA354798488ATRc.4424A>G (p.Lys1475Arg)
n.4453A>G
c.3214A>G
c.4232A>G (p.Lys1411Arg)
c.4430A>G (p.Lys1477Arg)
c.4238A>G (p.Lys1413Arg)
n.4519A>G
n.4513A>G
 gnomAD v4
3g.142515474T>GCA354798497ATRc.4424A>C (p.Lys1475Thr)
n.4453A>C
c.3214A>C
c.4232A>C (p.Lys1411Thr)
c.4430A>C (p.Lys1477Thr)
c.4238A>C (p.Lys1413Thr)
n.4519A>C
n.4513A>C
3g.142515475T>ACA354798500ATRc.4423A>T (p.Lys1475Ter)
n.4452A>T
c.3213A>T
c.4231A>T (p.Lys1411Ter)
c.4429A>T (p.Lys1477Ter)
c.4237A>T (p.Lys1413Ter)
n.4518A>T
n.4512A>T
3g.142515475T>CCA354798502ATRc.4423A>G (p.Lys1475Glu)
n.4452A>G
c.3213A>G
c.4231A>G (p.Lys1411Glu)
c.4429A>G (p.Lys1477Glu)
c.4237A>G (p.Lys1413Glu)
n.4518A>G
n.4512A>G
3g.142515475T>GCA354798503ATRc.4423A>C (p.Lys1475Gln)
n.4452A>C
c.3213A>C
c.4231A>C (p.Lys1411Gln)
c.4429A>C (p.Lys1477Gln)
c.4237A>C (p.Lys1413Gln)
n.4518A>C
n.4512A>C
3g.142515476T>ACA436108253ATRc.4422A>T (p.Val1474=)
n.4451A>T
c.3212A>T
c.4230A>T (p.Val1410=)
c.4428A>T (p.Val1476=)
c.4236A>T (p.Val1412=)
n.4517A>T
n.4511A>T
3g.142515476T>CCA436108255ATRc.4422A>G (p.Val1474=)
n.4451A>G
c.3212A>G
c.4230A>G (p.Val1410=)
c.4428A>G (p.Val1476=)
c.4236A>G (p.Val1412=)
n.4517A>G
n.4511A>G
3g.142515476T>GCA436108251ATRc.4422A>C (p.Val1474=)
n.4451A>C
c.3212A>C
c.4230A>C (p.Val1410=)
c.4428A>C (p.Val1476=)
c.4236A>C (p.Val1412=)
n.4517A>C
n.4511A>C
3g.142515477A>CCA354798504ATRc.4421T>G (p.Val1474Gly)
n.4450T>G
c.3211T>G
c.4229T>G (p.Val1410Gly)
c.4427T>G (p.Val1476Gly)
c.4235T>G (p.Val1412Gly)
n.4516T>G
n.4510T>G
3g.142515477A>GCA354798515ATRc.4421T>C (p.Val1474Ala)
n.4450T>C
c.3211T>C
c.4229T>C (p.Val1410Ala)
c.4427T>C (p.Val1476Ala)
c.4235T>C (p.Val1412Ala)
n.4516T>C
n.4510T>C
3g.142515477A>TCA354798510ATRc.4421T>A (p.Val1474Glu)
n.4450T>A
c.3211T>A
c.4229T>A (p.Val1410Glu)
c.4427T>A (p.Val1476Glu)
c.4235T>A (p.Val1412Glu)
n.4516T>A
n.4510T>A
3g.142515477_142515480delinsACTCCA1407011989ATRc.4418_4421delinsGAGT (p.Gly1473=)
n.4447_4450delinsGAGT
c.3208_3211delinsGAGT
c.4226_4229delinsGAGT (p.Gly1409=)
c.4424_4427delinsGAGT (p.Gly1475=)
c.4232_4235delinsGAGT (p.Gly1411=)
n.4513_4516delinsGAGT
n.4507_4510delinsGAGT
3g.142515478C>ACA354798517ATRc.4420G>T (p.Val1474Leu)
n.4449G>T
c.3210G>T
c.4228G>T (p.Val1410Leu)
c.4426G>T (p.Val1476Leu)
c.4234G>T (p.Val1412Leu)
n.4515G>T
n.4509G>T
3g.142515478C>GCA354798540ATRc.4420G>C (p.Val1474Leu)
n.4449G>C
c.3210G>C
c.4228G>C (p.Val1410Leu)
c.4426G>C (p.Val1476Leu)
c.4234G>C (p.Val1412Leu)
n.4515G>C
n.4509G>C
3g.142515478C>TCA354798544ATRc.4420G>A (p.Val1474Ile)
n.4449G>A
c.3210G>A
c.4228G>A (p.Val1410Ile)
c.4426G>A (p.Val1476Ile)
c.4234G>A (p.Val1412Ile)
n.4515G>A
n.4509G>A
 dbSNP
3g.142515479_142515481delCA2649852ATRc.4418_4420del (p.Gly1473del)
n.4447_4449del
c.3208_3210del
c.4226_4228del (p.Gly1409del)
c.4424_4426del (p.Gly1475del)
c.4232_4234del (p.Gly1411del)
n.4513_4515del
n.4507_4509del
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.142515479T>ACA436108277ATRc.4419A>T (p.Gly1473=)
n.4448A>T
c.3209A>T
c.4227A>T (p.Gly1409=)
c.4425A>T (p.Gly1475=)
c.4233A>T (p.Gly1411=)
n.4514A>T
n.4508A>T
3g.142515479T>CCA2649853ATRc.4419A>G (p.Gly1473=)
n.4448A>G
c.3209A>G
c.4227A>G (p.Gly1409=)
c.4425A>G (p.Gly1475=)
c.4233A>G (p.Gly1411=)
n.4514A>G
n.4508A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.142515479T>GCA436108282ATRc.4419A>C (p.Gly1473=)
n.4448A>C
c.3209A>C
c.4227A>C (p.Gly1409=)
c.4425A>C (p.Gly1475=)
c.4233A>C (p.Gly1411=)
n.4514A>C
n.4508A>C
3g.142515479T=CA1407011990ATRc.4419A= (p.Gly1473=)
n.4448A=
c.3209A=
c.4227A= (p.Gly1409=)
c.4425A= (p.Gly1475=)
c.4233A= (p.Gly1411=)
n.4514A=
n.4508A=
3g.142515480C>ACA354798562ATRc.4418G>T (p.Gly1473Val)
n.4447G>T
c.3208G>T
c.4226G>T (p.Gly1409Val)
c.4424G>T (p.Gly1475Val)
c.4232G>T (p.Gly1411Val)
n.4513G>T
n.4507G>T
3g.142515480C=CA1407011991ATRc.4418G= (p.Gly1473=)
n.4447G=
c.3208G=
c.4226G= (p.Gly1409=)
c.4424G= (p.Gly1475=)
c.4232G= (p.Gly1411=)
n.4513G=
n.4507G=
3g.142515480C>GCA354798564ATRc.4418G>C (p.Gly1473Ala)
n.4447G>C
c.3208G>C
c.4226G>C (p.Gly1409Ala)
c.4424G>C (p.Gly1475Ala)
c.4232G>C (p.Gly1411Ala)
n.4513G>C
n.4507G>C
 dbSNP
3g.142515480C>TCA354798567ATRc.4418G>A (p.Gly1473Glu)
n.4447G>A
c.3208G>A
c.4226G>A (p.Gly1409Glu)
c.4424G>A (p.Gly1475Glu)
c.4232G>A (p.Gly1411Glu)
n.4513G>A
n.4507G>A
3g.142515481C>ACA354798569ATRc.4417G>T (p.Gly1473Ter)
n.4446G>T
c.3207G>T
c.4225G>T (p.Gly1409Ter)
c.4423G>T (p.Gly1475Ter)
c.4231G>T (p.Gly1411Ter)
n.4512G>T
n.4506G>T
3g.142515481C>GCA354798571ATRc.4417G>C (p.Gly1473Arg)
n.4446G>C
c.3207G>C
c.4225G>C (p.Gly1409Arg)
c.4423G>C (p.Gly1475Arg)
c.4231G>C (p.Gly1411Arg)
n.4512G>C
n.4506G>C
3g.142515481C>TCA354798576ATRc.4417G>A (p.Gly1473Arg)
n.4446G>A
c.3207G>A
c.4225G>A (p.Gly1409Arg)
c.4423G>A (p.Gly1475Arg)
c.4231G>A (p.Gly1411Arg)
n.4512G>A
n.4506G>A
3g.142515482A>CCA436108298ATRc.4416T>G (p.Ser1472=)
n.4445T>G
c.3206T>G
c.4224T>G (p.Ser1408=)
c.4422T>G (p.Ser1474=)
c.4230T>G (p.Ser1410=)
n.4511T>G
n.4505T>G
3g.142515482A>GCA436108302ATRc.4416T>C (p.Ser1472=)
n.4445T>C
c.3206T>C
c.4224T>C (p.Ser1408=)
c.4422T>C (p.Ser1474=)
c.4230T>C (p.Ser1410=)
n.4511T>C
n.4505T>C
 ClinVar gnomAD v4
3g.142515482A>TCA436108300ATRc.4416T>A (p.Ser1472=)
n.4445T>A
c.3206T>A
c.4224T>A (p.Ser1408=)
c.4422T>A (p.Ser1474=)
c.4230T>A (p.Ser1410=)
n.4511T>A
n.4505T>A
3g.142515483G>ACA354798589ATRc.4415C>T (p.Ser1472Phe)
n.4444C>T
c.3205C>T
c.4223C>T (p.Ser1408Phe)
c.4421C>T (p.Ser1474Phe)
c.4229C>T (p.Ser1410Phe)
n.4510C>T
n.4504C>T
 ClinVar dbSNP gnomAD v4
3g.142515483G>CCA354798586ATRc.4415C>G (p.Ser1472Cys)
n.4444C>G
c.3205C>G
c.4223C>G (p.Ser1408Cys)
c.4421C>G (p.Ser1474Cys)
c.4229C>G (p.Ser1410Cys)
n.4510C>G
n.4504C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.142515483G=CA1407011992ATRc.4415C= (p.Ser1472=)
n.4444C=
c.3205C=
c.4223C= (p.Ser1408=)
c.4421C= (p.Ser1474=)
c.4229C= (p.Ser1410=)
n.4510C=
n.4504C=
3g.142515483G>TCA354798583ATRc.4415C>A (p.Ser1472Tyr)
n.4444C>A
c.3205C>A
c.4223C>A (p.Ser1408Tyr)
c.4421C>A (p.Ser1474Tyr)
c.4229C>A (p.Ser1410Tyr)
n.4510C>A
n.4504C>A
 gnomAD v4
3g.142515484A>CCA354798607ATRc.4414T>G (p.Ser1472Ala)
n.4443T>G
c.3204T>G
c.4222T>G (p.Ser1408Ala)
c.4420T>G (p.Ser1474Ala)
c.4228T>G (p.Ser1410Ala)
n.4509T>G
n.4503T>G
3g.142515484A>GCA354798595ATRc.4414T>C (p.Ser1472Pro)
n.4443T>C
c.3204T>C
c.4222T>C (p.Ser1408Pro)
c.4420T>C (p.Ser1474Pro)
c.4228T>C (p.Ser1410Pro)
n.4509T>C
n.4503T>C
3g.142515484A>TCA354798600ATRc.4414T>A (p.Ser1472Thr)
n.4443T>A
c.3204T>A
c.4222T>A (p.Ser1408Thr)
c.4420T>A (p.Ser1474Thr)
c.4228T>A (p.Ser1410Thr)
n.4509T>A
n.4503T>A
3g.142515485C>ACA354798613ATRc.4413G>T (p.Trp1471Cys)
n.4442G>T
c.3203G>T
c.4221G>T (p.Trp1407Cys)
c.4419G>T (p.Trp1473Cys)
c.4227G>T (p.Trp1409Cys)
n.4508G>T
n.4502G>T
 ClinVar
3g.142515485C=CA1407011993ATRc.4413G= (p.Trp1471=)
n.4442G=
c.3203G=
c.4221G= (p.Trp1407=)
c.4419G= (p.Trp1473=)
c.4227G= (p.Trp1409=)
n.4508G=
n.4502G=
3g.142515485C>GCA354798632ATRc.4413G>C (p.Trp1471Cys)
n.4442G>C
c.3203G>C
c.4221G>C (p.Trp1407Cys)
c.4419G>C (p.Trp1473Cys)
c.4227G>C (p.Trp1409Cys)
n.4508G>C
n.4502G>C
 dbSNP gnomAD v2 gnomAD v4
3g.142515485C>TCA354798635ATRc.4413G>A (p.Trp1471Ter)
n.4442G>A
c.3203G>A
c.4221G>A (p.Trp1407Ter)
c.4419G>A (p.Trp1473Ter)
c.4227G>A (p.Trp1409Ter)
n.4508G>A
n.4502G>A
3g.142515486C>ACA354798636ATRc.4412G>T (p.Trp1471Leu)
n.4441G>T
c.3202G>T
c.4220G>T (p.Trp1407Leu)
c.4418G>T (p.Trp1473Leu)
c.4226G>T (p.Trp1409Leu)
n.4507G>T
n.4501G>T
3g.142515486C>GCA354798637ATRc.4412G>C (p.Trp1471Ser)
n.4441G>C
c.3202G>C
c.4220G>C (p.Trp1407Ser)
c.4418G>C (p.Trp1473Ser)
c.4226G>C (p.Trp1409Ser)
n.4507G>C
n.4501G>C
3g.142515486C>TCA354798638ATRc.4412G>A (p.Trp1471Ter)
n.4441G>A
c.3202G>A
c.4220G>A (p.Trp1407Ter)
c.4418G>A (p.Trp1473Ter)
c.4226G>A (p.Trp1409Ter)
n.4507G>A
n.4501G>A
3g.142515487A=CA1407011994ATRc.4411T= (p.Trp1471=)
n.4440T=
c.3201T=
c.4219T= (p.Trp1407=)
c.4417T= (p.Trp1473=)
c.4225T= (p.Trp1409=)
n.4506T=
n.4500T=
3g.142515487A>CCA84720702ATRc.4411T>G (p.Trp1471Gly)
n.4440T>G
c.3201T>G
c.4219T>G (p.Trp1407Gly)
c.4417T>G (p.Trp1473Gly)
c.4225T>G (p.Trp1409Gly)
n.4506T>G
n.4500T>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.142515487A>GCA354798644ATRc.4411T>C (p.Trp1471Arg)
n.4440T>C
c.3201T>C
c.4219T>C (p.Trp1407Arg)
c.4417T>C (p.Trp1473Arg)
c.4225T>C (p.Trp1409Arg)
n.4506T>C
n.4500T>C
 COSMIC
3g.142515487A>TCA354798658ATRc.4411T>A (p.Trp1471Arg)
n.4440T>A
c.3201T>A
c.4219T>A (p.Trp1407Arg)
c.4417T>A (p.Trp1473Arg)
c.4225T>A (p.Trp1409Arg)
n.4506T>A
n.4500T>A
3g.142515488A>CCA354798674ATRc.4410T>G (p.Asp1470Glu)
n.4439T>G
c.3200T>G
c.4218T>G (p.Asp1406Glu)
c.4416T>G (p.Asp1472Glu)
c.4224T>G (p.Asp1408Glu)
n.4505T>G
n.4499T>G
3g.142515488A>GCA436108359ATRc.4410T>C (p.Asp1470=)
n.4439T>C
c.3200T>C
c.4218T>C (p.Asp1406=)
c.4416T>C (p.Asp1472=)
c.4224T>C (p.Asp1408=)
n.4505T>C
n.4499T>C
 ClinVar gnomAD v4
3g.142515488A>TCA354798681ATRc.4410T>A (p.Asp1470Glu)
n.4439T>A
c.3200T>A
c.4218T>A (p.Asp1406Glu)
c.4416T>A (p.Asp1472Glu)
c.4224T>A (p.Asp1408Glu)
n.4505T>A
n.4499T>A
3g.142515489T>ACA354798686ATRc.4409A>T (p.Asp1470Val)
n.4438A>T
c.3199A>T
c.4217A>T (p.Asp1406Val)
c.4415A>T (p.Asp1472Val)
c.4223A>T (p.Asp1408Val)
n.4504A>T
n.4498A>T
3g.142515489T>CCA354798685ATRc.4409A>G (p.Asp1470Gly)
n.4438A>G
c.3199A>G
c.4217A>G (p.Asp1406Gly)
c.4415A>G (p.Asp1472Gly)
c.4223A>G (p.Asp1408Gly)
n.4504A>G
n.4498A>G
3g.142515489T>GCA354798684ATRc.4409A>C (p.Asp1470Ala)
n.4438A>C
c.3199A>C
c.4217A>C (p.Asp1406Ala)
c.4415A>C (p.Asp1472Ala)
c.4223A>C (p.Asp1408Ala)
n.4504A>C
n.4498A>C
3g.142515490C>ACA354798687ATRc.4408G>T (p.Asp1470Tyr)
n.4437G>T
c.3198G>T
c.4216G>T (p.Asp1406Tyr)
c.4414G>T (p.Asp1472Tyr)
c.4222G>T (p.Asp1408Tyr)
n.4503G>T
n.4497G>T
 dbSNP gnomAD v4
3g.142515490C=CA1407011995ATRc.4408G= (p.Asp1470=)
n.4437G=
c.3198G=
c.4216G= (p.Asp1406=)
c.4414G= (p.Asp1472=)
c.4222G= (p.Asp1408=)
n.4503G=
n.4497G=
3g.142515490C>GCA354798689ATRc.4408G>C (p.Asp1470His)
n.4437G>C
c.3198G>C
c.4216G>C (p.Asp1406His)
c.4414G>C (p.Asp1472His)
c.4222G>C (p.Asp1408His)
n.4503G>C
n.4497G>C
3g.142515490C>TCA354798694ATRc.4408G>A (p.Asp1470Asn)
n.4437G>A
c.3198G>A
c.4216G>A (p.Asp1406Asn)
c.4414G>A (p.Asp1472Asn)
c.4222G>A (p.Asp1408Asn)
n.4503G>A
n.4497G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.142515491G>ACA2649854ATRc.4407C>T (p.Thr1469=)
n.4436C>T
c.3197C>T
c.4215C>T (p.Thr1405=)
c.4413C>T (p.Thr1471=)
c.4221C>T (p.Thr1407=)
n.4502C>T
n.4496C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.142515491G>CCA2649855ATRc.4407C>G (p.Thr1469=)
n.4436C>G
c.3197C>G
c.4215C>G (p.Thr1405=)
c.4413C>G (p.Thr1471=)
c.4221C>G (p.Thr1407=)
n.4502C>G
n.4496C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.142515491G=CA1407011996ATRc.4407C= (p.Thr1469=)
n.4436C=
c.3197C=
c.4215C= (p.Thr1405=)
c.4413C= (p.Thr1471=)
c.4221C= (p.Thr1407=)
n.4502C=
n.4496C=
3g.142515491G>TCA436108392ATRc.4407C>A (p.Thr1469=)
n.4436C>A
c.3197C>A
c.4215C>A (p.Thr1405=)
c.4413C>A (p.Thr1471=)
c.4221C>A (p.Thr1407=)
n.4502C>A
n.4496C>A
 ClinVar
3g.142515492G>ACA2649856ATRc.4406C>T (p.Thr1469Ile)
n.4435C>T
c.3196C>T
c.4214C>T (p.Thr1405Ile)
c.4412C>T (p.Thr1471Ile)
c.4220C>T (p.Thr1407Ile)
n.4501C>T
n.4495C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.142515492G>CCA354798698ATRc.4406C>G (p.Thr1469Ser)
n.4435C>G
c.3196C>G
c.4214C>G (p.Thr1405Ser)
c.4412C>G (p.Thr1471Ser)
c.4220C>G (p.Thr1407Ser)
n.4501C>G
n.4495C>G
3g.142515492G=CA1407011997ATRc.4406C= (p.Thr1469=)
n.4435C=
c.3196C=
c.4214C= (p.Thr1405=)
c.4412C= (p.Thr1471=)
c.4220C= (p.Thr1407=)
n.4501C=
n.4495C=
3g.142515492G>TCA354798700ATRc.4406C>A (p.Thr1469Asn)
n.4435C>A
c.3196C>A
c.4214C>A (p.Thr1405Asn)
c.4412C>A (p.Thr1471Asn)
c.4220C>A (p.Thr1407Asn)
n.4501C>A
n.4495C>A
3g.142515493T>ACA354798706ATRc.4405A>T (p.Thr1469Ser)
n.4434A>T
c.3195A>T
c.4213A>T (p.Thr1405Ser)
c.4411A>T (p.Thr1471Ser)
c.4219A>T (p.Thr1407Ser)
n.4500A>T
n.4494A>T
 dbSNP
3g.142515493T>CCA2649857ATRc.4405A>G (p.Thr1469Ala)
n.4434A>G
c.3195A>G
c.4213A>G (p.Thr1405Ala)
c.4411A>G (p.Thr1471Ala)
c.4219A>G (p.Thr1407Ala)
n.4500A>G
n.4494A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.142515493T>GCA354798716ATRc.4405A>C (p.Thr1469Pro)
n.4434A>C
c.3195A>C
c.4213A>C (p.Thr1405Pro)
c.4411A>C (p.Thr1471Pro)
c.4219A>C (p.Thr1407Pro)
n.4500A>C
n.4494A>C
 dbSNP
3g.142515493T=CA1407011998ATRc.4405A= (p.Thr1469=)
n.4434A=
c.3195A=
c.4213A= (p.Thr1405=)
c.4411A= (p.Thr1471=)
c.4219A= (p.Thr1407=)
n.4500A=
n.4494A=
3g.142515494T>ACA436108412ATRc.4404A>T (p.Ser1468=)
n.4433A>T
c.3194A>T
c.4212A>T (p.Ser1404=)
c.4410A>T (p.Ser1470=)
c.4218A>T (p.Ser1406=)
n.4499A>T
n.4493A>T
3g.142515494T>CCA436108416ATRc.4404A>G (p.Ser1468=)
n.4433A>G
c.3194A>G
c.4212A>G (p.Ser1404=)
c.4410A>G (p.Ser1470=)
c.4218A>G (p.Ser1406=)
n.4499A>G
n.4493A>G
3g.142515494T>GCA436108419ATRc.4404A>C (p.Ser1468=)
n.4433A>C
c.3194A>C
c.4212A>C (p.Ser1404=)
c.4410A>C (p.Ser1470=)
c.4218A>C (p.Ser1406=)
n.4499A>C
n.4493A>C
3g.142515495G>ACA354798718ATRc.4403C>T (p.Ser1468Leu)
n.4432C>T
c.3193C>T
c.4211C>T (p.Ser1404Leu)
c.4409C>T (p.Ser1470Leu)
c.4217C>T (p.Ser1406Leu)
n.4498C>T
n.4492C>T
3g.142515495G>CCA354798720ATRc.4403C>G (p.Ser1468Ter)
n.4432C>G
c.3193C>G
c.4211C>G (p.Ser1404Ter)
c.4409C>G (p.Ser1470Ter)
c.4217C>G (p.Ser1406Ter)
n.4498C>G
n.4492C>G
3g.142515495G>TCA354798723ATRc.4403C>A (p.Ser1468Ter)
n.4432C>A
c.3193C>A
c.4211C>A (p.Ser1404Ter)
c.4409C>A (p.Ser1470Ter)
c.4217C>A (p.Ser1406Ter)
n.4498C>A
n.4492C>A
3g.142515496A>CCA354798737ATRc.4402T>G (p.Ser1468Ala)
n.4431T>G
c.3192T>G
c.4210T>G (p.Ser1404Ala)
c.4408T>G (p.Ser1470Ala)
c.4216T>G (p.Ser1406Ala)
n.4497T>G
n.4491T>G
3g.142515496A>GCA354798740ATRc.4402T>C (p.Ser1468Pro)
n.4431T>C
c.3192T>C
c.4210T>C (p.Ser1404Pro)
c.4408T>C (p.Ser1470Pro)
c.4216T>C (p.Ser1406Pro)
n.4497T>C
n.4491T>C
3g.142515496A>TCA354798731ATRc.4402T>A (p.Ser1468Thr)
n.4431T>A
c.3192T>A
c.4210T>A (p.Ser1404Thr)
c.4408T>A (p.Ser1470Thr)
c.4216T>A (p.Ser1406Thr)
n.4497T>A
n.4491T>A
3g.142515497C>ACA354798741ATRc.4401G>T (p.Lys1467Asn)
n.4430G>T
c.3191G>T
c.4209G>T (p.Lys1403Asn)
c.4407G>T (p.Lys1469Asn)
c.4215G>T (p.Lys1405Asn)
n.4496G>T
n.4490G>T
3g.142515497C>GCA354798742ATRc.4401G>C (p.Lys1467Asn)
n.4430G>C
c.3191G>C
c.4209G>C (p.Lys1403Asn)
c.4407G>C (p.Lys1469Asn)
c.4215G>C (p.Lys1405Asn)
n.4496G>C
n.4490G>C
 gnomAD v4
3g.142515497C>TCA436108443ATRc.4401G>A (p.Lys1467=)
n.4430G>A
c.3191G>A
c.4209G>A (p.Lys1403=)
c.4407G>A (p.Lys1469=)
c.4215G>A (p.Lys1405=)
n.4496G>A
n.4490G>A
3g.142515498T>ACA354798744ATRc.4400A>T (p.Lys1467Met)
n.4429A>T
c.3190A>T
c.4208A>T (p.Lys1403Met)
c.4406A>T (p.Lys1469Met)
c.4214A>T (p.Lys1405Met)
n.4495A>T
n.4489A>T
3g.142515498T>CCA354798749ATRc.4400A>G (p.Lys1467Arg)
n.4429A>G
c.3190A>G
c.4208A>G (p.Lys1403Arg)
c.4406A>G (p.Lys1469Arg)
c.4214A>G (p.Lys1405Arg)
n.4495A>G
n.4489A>G
3g.142515498T>GCA354798753ATRc.4400A>C (p.Lys1467Thr)
n.4429A>C
c.3190A>C
c.4208A>C (p.Lys1403Thr)
c.4406A>C (p.Lys1469Thr)
c.4214A>C (p.Lys1405Thr)
n.4495A>C
n.4489A>C
3g.142515499T>ACA354798786ATRc.4399A>T (p.Lys1467Ter)
n.4428A>T
c.3189A>T
c.4207A>T (p.Lys1403Ter)
c.4405A>T (p.Lys1469Ter)
c.4213A>T (p.Lys1405Ter)
n.4494A>T
n.4488A>T
3g.142515499T>CCA354798780ATRc.4399A>G (p.Lys1467Glu)
n.4428A>G
c.3189A>G
c.4207A>G (p.Lys1403Glu)
c.4405A>G (p.Lys1469Glu)
c.4213A>G (p.Lys1405Glu)
n.4494A>G
n.4488A>G
3g.142515499T>GCA354798755ATRc.4399A>C (p.Lys1467Gln)
n.4428A>C
c.3189A>C
c.4207A>C (p.Lys1403Gln)
c.4405A>C (p.Lys1469Gln)
c.4213A>C (p.Lys1405Gln)
n.4494A>C
n.4488A>C
3g.142515500C>ACA354798796ATRc.4398G>T (p.Gln1466His)
n.4427G>T
c.3188G>T
c.4206G>T (p.Gln1402His)
c.4404G>T (p.Gln1468His)
c.4212G>T (p.Gln1404His)
n.4493G>T
n.4487G>T
3g.142515500C=CA1407011999ATRc.4398G= (p.Gln1466=)
n.4427G=
c.3188G=
c.4206G= (p.Gln1402=)
c.4404G= (p.Gln1468=)
c.4212G= (p.Gln1404=)
n.4493G=
n.4487G=
3g.142515500C>GCA354798802ATRc.4398G>C (p.Gln1466His)
n.4427G>C
c.3188G>C
c.4206G>C (p.Gln1402His)
c.4404G>C (p.Gln1468His)
c.4212G>C (p.Gln1404His)
n.4493G>C
n.4487G>C
 dbSNP
3g.142515500C>TCA2649858ATRc.4398G>A (p.Gln1466=)
n.4427G>A
c.3188G>A
c.4206G>A (p.Gln1402=)
c.4404G>A (p.Gln1468=)
c.4212G>A (p.Gln1404=)
n.4493G>A
n.4487G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.142515501T>ACA354798807ATRc.4397A>T (p.Gln1466Leu)
n.4426A>T
c.3187A>T
c.4205A>T (p.Gln1402Leu)
c.4403A>T (p.Gln1468Leu)
c.4211A>T (p.Gln1404Leu)
n.4492A>T
n.4486A>T
3g.142515501T>CCA354798808ATRc.4397A>G (p.Gln1466Arg)
n.4426A>G
c.3187A>G
c.4205A>G (p.Gln1402Arg)
c.4403A>G (p.Gln1468Arg)
c.4211A>G (p.Gln1404Arg)
n.4492A>G
n.4486A>G
3g.142515501T>GCA354798809ATRc.4397A>C (p.Gln1466Pro)
n.4426A>C
c.3187A>C
c.4205A>C (p.Gln1402Pro)
c.4403A>C (p.Gln1468Pro)
c.4211A>C (p.Gln1404Pro)
n.4492A>C
n.4486A>C
3g.142515502G>ACA354798810ATRc.4396C>T (p.Gln1466Ter)
n.4425C>T
c.3186C>T
c.4204C>T (p.Gln1402Ter)
c.4402C>T (p.Gln1468Ter)
c.4210C>T (p.Gln1404Ter)
n.4491C>T
n.4485C>T
 dbSNP gnomAD v2
3g.142515502G>CCA354798812ATRc.4396C>G (p.Gln1466Glu)
n.4425C>G
c.3186C>G
c.4204C>G (p.Gln1402Glu)
c.4402C>G (p.Gln1468Glu)
c.4210C>G (p.Gln1404Glu)
n.4491C>G
n.4485C>G
3g.142515502G=CA1407012000ATRc.4396C= (p.Gln1466=)
n.4425C=
c.3186C=
c.4204C= (p.Gln1402=)
c.4402C= (p.Gln1468=)
c.4210C= (p.Gln1404=)
n.4491C=
n.4485C=
3g.142515502G>TCA354798811ATRc.4396C>A (p.Gln1466Lys)
n.4425C>A
c.3186C>A
c.4204C>A (p.Gln1402Lys)
c.4402C>A (p.Gln1468Lys)
c.4210C>A (p.Gln1404Lys)
n.4491C>A
n.4485C>A
3g.142515503A>CCA436108494ATRc.4395T>G (p.Ser1465=)
n.4424T>G
c.3185T>G
c.4203T>G (p.Ser1401=)
c.4401T>G (p.Ser1467=)
c.4209T>G (p.Ser1403=)
n.4490T>G
n.4484T>G
3g.142515503A>GCA436108499ATRc.4395T>C (p.Ser1465=)
n.4424T>C
c.3185T>C
c.4203T>C (p.Ser1401=)
c.4401T>C (p.Ser1467=)
c.4209T>C (p.Ser1403=)
n.4490T>C
n.4484T>C
3g.142515503A>TCA436108504ATRc.4395T>A (p.Ser1465=)
n.4424T>A
c.3185T>A
c.4203T>A (p.Ser1401=)
c.4401T>A (p.Ser1467=)
c.4209T>A (p.Ser1403=)
n.4490T>A
n.4484T>A
3g.142515504G>ACA2649859ATRc.4394C>T (p.Ser1465Phe)
n.4423C>T
c.3184C>T
c.4202C>T (p.Ser1401Phe)
c.4400C>T (p.Ser1467Phe)
c.4208C>T (p.Ser1403Phe)
n.4489C>T
n.4483C>T
 dbSNP ExAC gnomAD v3 gnomAD v4
3g.142515504G>CCA354798814ATRc.4394C>G (p.Ser1465Cys)
n.4423C>G
c.3184C>G
c.4202C>G (p.Ser1401Cys)
c.4400C>G (p.Ser1467Cys)
c.4208C>G (p.Ser1403Cys)
n.4489C>G
n.4483C>G
3g.142515504G=CA1407012001ATRc.4394C= (p.Ser1465=)
n.4423C=
c.3184C=
c.4202C= (p.Ser1401=)
c.4400C= (p.Ser1467=)
c.4208C= (p.Ser1403=)
n.4489C=
n.4483C=
3g.142515504G>TCA354798815ATRc.4394C>A (p.Ser1465Tyr)
n.4423C>A
c.3184C>A
c.4202C>A (p.Ser1401Tyr)
c.4400C>A (p.Ser1467Tyr)
c.4208C>A (p.Ser1403Tyr)
n.4489C>A
n.4483C>A
3g.142515505A>CCA354798818ATRc.4393T>G (p.Ser1465Ala)
n.4422T>G
c.3183T>G
c.4201T>G (p.Ser1401Ala)
c.4399T>G (p.Ser1467Ala)
c.4207T>G (p.Ser1403Ala)
n.4488T>G
n.4482T>G
3g.142515505A>GCA354798823ATRc.4393T>C (p.Ser1465Pro)
n.4422T>C
c.3183T>C
c.4201T>C (p.Ser1401Pro)
c.4399T>C (p.Ser1467Pro)
c.4207T>C (p.Ser1403Pro)
n.4488T>C
n.4482T>C
3g.142515505A>TCA354798827ATRc.4393T>A (p.Ser1465Thr)
n.4422T>A
c.3183T>A
c.4201T>A (p.Ser1401Thr)
c.4399T>A (p.Ser1467Thr)
c.4207T>A (p.Ser1403Thr)
n.4488T>A
n.4482T>A
3g.142515506A>CCA354798837ATRc.4392T>G (p.Ser1464Arg)
n.4421T>G
c.3182T>G
c.4200T>G (p.Ser1400Arg)
c.4398T>G (p.Ser1466Arg)
c.4206T>G (p.Ser1402Arg)
n.4487T>G
n.4481T>G
3g.142515506A>GCA436108523ATRc.4392T>C (p.Ser1464=)
n.4421T>C
c.3182T>C
c.4200T>C (p.Ser1400=)
c.4398T>C (p.Ser1466=)
c.4206T>C (p.Ser1402=)
n.4487T>C
n.4481T>C
3g.142515506A>TCA354798839ATRc.4392T>A (p.Ser1464Arg)
n.4421T>A
c.3182T>A
c.4200T>A (p.Ser1400Arg)
c.4398T>A (p.Ser1466Arg)
c.4206T>A (p.Ser1402Arg)
n.4487T>A
n.4481T>A
3g.142515507C>ACA354798840ATRc.4391G>T (p.Ser1464Ile)
n.4420G>T
c.3181G>T
c.4199G>T (p.Ser1400Ile)
c.4397G>T (p.Ser1466Ile)
c.4205G>T (p.Ser1402Ile)
n.4486G>T
n.4480G>T
3g.142515507C>GCA354798841ATRc.4391G>C (p.Ser1464Thr)
n.4420G>C
c.3181G>C
c.4199G>C (p.Ser1400Thr)
c.4397G>C (p.Ser1466Thr)
c.4205G>C (p.Ser1402Thr)
n.4486G>C
n.4480G>C
3g.142515507C>TCA354798843ATRc.4391G>A (p.Ser1464Asn)
n.4420G>A
c.3181G>A
c.4199G>A (p.Ser1400Asn)
c.4397G>A (p.Ser1466Asn)
c.4205G>A (p.Ser1402Asn)
n.4486G>A
n.4480G>A
3g.142515508T>ACA354798848ATRc.4390A>T (p.Ser1464Cys)
n.4419A>T
c.3180A>T
c.4198A>T (p.Ser1400Cys)
c.4396A>T (p.Ser1466Cys)
c.4204A>T (p.Ser1402Cys)
n.4485A>T
n.4479A>T
 dbSNP
3g.142515508T>CCA354798849ATRc.4390A>G (p.Ser1464Gly)
n.4419A>G
c.3180A>G
c.4198A>G (p.Ser1400Gly)
c.4396A>G (p.Ser1466Gly)
c.4204A>G (p.Ser1402Gly)
n.4485A>G
n.4479A>G
3g.142515508T>GCA354798847ATRc.4390A>C (p.Ser1464Arg)
n.4419A>C
c.3180A>C
c.4198A>C (p.Ser1400Arg)
c.4396A>C (p.Ser1466Arg)
c.4204A>C (p.Ser1402Arg)
n.4485A>C
n.4479A>C
3g.142515508T=CA1407012002ATRc.4390A= (p.Ser1464=)
n.4419A=
c.3180A=
c.4198A= (p.Ser1400=)
c.4396A= (p.Ser1466=)
c.4204A= (p.Ser1402=)
n.4485A=
n.4479A=
3g.142515509C>ACA354798850ATRc.4389G>T (p.Lys1463Asn)
n.4418G>T
c.3179G>T
c.4197G>T (p.Lys1399Asn)
c.4395G>T (p.Lys1465Asn)
c.4203G>T (p.Lys1401Asn)
n.4484G>T
n.4478G>T
3g.142515509C>GCA354798856ATRc.4389G>C (p.Lys1463Asn)
n.4418G>C
c.3179G>C
c.4197G>C (p.Lys1399Asn)
c.4395G>C (p.Lys1465Asn)
c.4203G>C (p.Lys1401Asn)
n.4484G>C
n.4478G>C
3g.142515509C>TCA436108548ATRc.4389G>A (p.Lys1463=)
n.4418G>A
c.3179G>A
c.4197G>A (p.Lys1399=)
c.4395G>A (p.Lys1465=)
c.4203G>A (p.Lys1401=)
n.4484G>A
n.4478G>A
 ClinVar gnomAD v4
3g.142515510T>ACA354798858ATRc.4388A>T (p.Lys1463Met)
n.4417A>T
c.3178A>T
c.4196A>T (p.Lys1399Met)
c.4394A>T (p.Lys1465Met)
c.4202A>T (p.Lys1401Met)
n.4483A>T
n.4477A>T
3g.142515510T>CCA2649860ATRc.4388A>G (p.Lys1463Arg)
n.4417A>G
c.3178A>G
c.4196A>G (p.Lys1399Arg)
c.4394A>G (p.Lys1465Arg)
c.4202A>G (p.Lys1401Arg)
n.4483A>G
n.4477A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.142515510T>GCA354798862ATRc.4388A>C (p.Lys1463Thr)
n.4417A>C
c.3178A>C
c.4196A>C (p.Lys1399Thr)
c.4394A>C (p.Lys1465Thr)
c.4202A>C (p.Lys1401Thr)
n.4483A>C
n.4477A>C
3g.142515510T=CA1407012003ATRc.4388A= (p.Lys1463=)
n.4417A=
c.3178A=
c.4196A= (p.Lys1399=)
c.4394A= (p.Lys1465=)
c.4202A= (p.Lys1401=)
n.4483A=
n.4477A=
3g.142515511T>ACA354798868ATRc.4387A>T (p.Lys1463Ter)
n.4416A>T
c.3177A>T
c.4195A>T (p.Lys1399Ter)
c.4393A>T (p.Lys1465Ter)
c.4201A>T (p.Lys1401Ter)
n.4482A>T
n.4476A>T
3g.142515511T>CCA354798876ATRc.4387A>G (p.Lys1463Glu)
n.4416A>G
c.3177A>G
c.4195A>G (p.Lys1399Glu)
c.4393A>G (p.Lys1465Glu)
c.4201A>G (p.Lys1401Glu)
n.4482A>G
n.4476A>G
3g.142515511T>GCA354798878ATRc.4387A>C (p.Lys1463Gln)
n.4416A>C
c.3177A>C
c.4195A>C (p.Lys1399Gln)
c.4393A>C (p.Lys1465Gln)
c.4201A>C (p.Lys1401Gln)
n.4482A>C
n.4476A>C
3g.142515511T=CA1407012004ATRc.4387A= (p.Lys1463=)
n.4416A=
c.3177A=
c.4195A= (p.Lys1399=)
c.4393A= (p.Lys1465=)
c.4201A= (p.Lys1401=)
n.4482A=
n.4476A=
3g.142515511_142515512insACA546573558ATRc.4386_4387insT (p.Lys1463Ter)
n.4415_4416insT
c.3176_3177insT
c.4194_4195insT (p.Lys1399Ter)
c.4392_4393insT (p.Lys1465Ter)
c.4200_4201insT (p.Lys1401Ter)
n.4481_4482insT
n.4475_4476insT
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.142515512G>ACA436108568ATRc.4386C>T (p.Tyr1462=)
n.4415C>T
c.3176C>T
c.4194C>T (p.Tyr1398=)
c.4392C>T (p.Tyr1464=)
c.4200C>T (p.Tyr1400=)
n.4481C>T
n.4475C>T
 gnomAD v4
3g.142515512G>CCA354798889ATRc.4386C>G (p.Tyr1462Ter)
n.4415C>G
c.3176C>G
c.4194C>G (p.Tyr1398Ter)
c.4392C>G (p.Tyr1464Ter)
c.4200C>G (p.Tyr1400Ter)
n.4481C>G
n.4475C>G
 dbSNP gnomAD v3 gnomAD v4
3g.142515512G=CA1407012005ATRc.4386C= (p.Tyr1462=)
n.4415C=
c.3176C=
c.4194C= (p.Tyr1398=)
c.4392C= (p.Tyr1464=)
c.4200C= (p.Tyr1400=)
n.4481C=
n.4475C=
3g.142515512G>TCA354798892ATRc.4386C>A (p.Tyr1462Ter)
n.4415C>A
c.3176C>A
c.4194C>A (p.Tyr1398Ter)
c.4392C>A (p.Tyr1464Ter)
c.4200C>A (p.Tyr1400Ter)
n.4481C>A
n.4475C>A
3g.142515513T>ACA354798896ATRc.4385A>T (p.Tyr1462Phe)
n.4414A>T
c.3175A>T
c.4193A>T (p.Tyr1398Phe)
c.4391A>T (p.Tyr1464Phe)
c.4199A>T (p.Tyr1400Phe)
n.4480A>T
n.4474A>T
3g.142515513T>CCA354798900ATRc.4385A>G (p.Tyr1462Cys)
n.4414A>G
c.3175A>G
c.4193A>G (p.Tyr1398Cys)
c.4391A>G (p.Tyr1464Cys)
c.4199A>G (p.Tyr1400Cys)
n.4480A>G
n.4474A>G
3g.142515513T>GCA354798901ATRc.4385A>C (p.Tyr1462Ser)
n.4414A>C
c.3175A>C
c.4193A>C (p.Tyr1398Ser)
c.4391A>C (p.Tyr1464Ser)
c.4199A>C (p.Tyr1400Ser)
n.4480A>C
n.4474A>C
3g.142515514A>CCA354798910ATRc.4384T>G (p.Tyr1462Asp)
n.4413T>G
c.3174T>G
c.4192T>G (p.Tyr1398Asp)
c.4390T>G (p.Tyr1464Asp)
c.4198T>G (p.Tyr1400Asp)
n.4479T>G
n.4473T>G
3g.142515514A>GCA354798919ATRc.4384T>C (p.Tyr1462His)
n.4413T>C
c.3174T>C
c.4192T>C (p.Tyr1398His)
c.4390T>C (p.Tyr1464His)
c.4198T>C (p.Tyr1400His)
n.4479T>C
n.4473T>C
3g.142515514A>TCA354798925ATRc.4384T>A (p.Tyr1462Asn)
n.4413T>A
c.3174T>A
c.4192T>A (p.Tyr1398Asn)
c.4390T>A (p.Tyr1464Asn)
c.4198T>A (p.Tyr1400Asn)
n.4479T>A
n.4473T>A
3g.142515515T>ACA354798942ATRc.4383A>T (p.Arg1461Ser)
n.4412A>T
c.3173A>T
c.4191A>T (p.Arg1397Ser)
c.4389A>T (p.Arg1463Ser)
c.4197A>T (p.Arg1399Ser)
n.4478A>T
n.4472A>T
3g.142515515T>CCA436108592ATRc.4383A>G (p.Arg1461=)
n.4412A>G
c.3173A>G
c.4191A>G (p.Arg1397=)
c.4389A>G (p.Arg1463=)
c.4197A>G (p.Arg1399=)
n.4478A>G
n.4472A>G
3g.142515515T>GCA354798952ATRc.4383A>C (p.Arg1461Ser)
n.4412A>C
c.3173A>C
c.4191A>C (p.Arg1397Ser)
c.4389A>C (p.Arg1463Ser)
c.4197A>C (p.Arg1399Ser)
n.4478A>C
n.4472A>C
3g.142515516C>ACA354798956ATRc.4383-1G>T (n.4383-1G>T)
n.4412-1G>T
c.3173-1G>T
c.4191-1G>T (n.4191-1G>T)
c.4389-1G>T (n.4389-1G>T)
c.4197-1G>T (n.4197-1G>T)
n.4478-1G>T
n.4472-1G>T
3g.142515516C=CA1407012006ATRc.4383-1G= (n.4383-1G=)
n.4412-1G=
c.3173-1G=
c.4191-1G= (n.4191-1G=)
c.4389-1G= (n.4389-1G=)
c.4197-1G= (n.4197-1G=)
n.4478-1G=
n.4472-1G=
3g.142515516C>GCA2649861ATRc.4383-1G>C (n.4383-1G>C)
n.4412-1G>C
c.3173-1G>C
c.4191-1G>C (n.4191-1G>C)
c.4389-1G>C (n.4389-1G>C)
c.4197-1G>C (n.4197-1G>C)
n.4478-1G>C
n.4472-1G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.142515516C>TCA354798959ATRc.4383-1G>A (n.4383-1G>A)
n.4412-1G>A
c.3173-1G>A
c.4191-1G>A (n.4191-1G>A)
c.4389-1G>A (n.4389-1G>A)
c.4197-1G>A (n.4197-1G>A)
n.4478-1G>A
n.4472-1G>A
3g.142515517delCA2577942554ATRc.4383-2del (n.4383-2del)
n.4412-2del
c.3173-2del
c.4191-2del (n.4191-2del)
c.4389-2del (n.4389-2del)
c.4197-2del (n.4197-2del)
n.4478-2del
n.4472-2del
 gnomAD v4
3g.142515517T>ACA354798961ATRc.4383-2A>T (n.4383-2A>T)
n.4412-2A>T
c.3173-2A>T
c.4191-2A>T (n.4191-2A>T)
c.4389-2A>T (n.4389-2A>T)
c.4197-2A>T (n.4197-2A>T)
n.4478-2A>T
n.4472-2A>T
3g.142515517T>CCA354798965ATRc.4383-2A>G (n.4383-2A>G)
n.4412-2A>G
c.3173-2A>G
c.4191-2A>G (n.4191-2A>G)
c.4389-2A>G (n.4389-2A>G)
c.4197-2A>G (n.4197-2A>G)
n.4478-2A>G
n.4472-2A>G
 COSMIC
3g.142515517T>GCA354798975ATRc.4383-2A>C (n.4383-2A>C)
n.4412-2A>C
c.3173-2A>C
c.4191-2A>C (n.4191-2A>C)
c.4389-2A>C (n.4389-2A>C)
c.4197-2A>C (n.4197-2A>C)
n.4478-2A>C
n.4472-2A>C
3g.142515518G>ACA546573559ATRc.4383-3C>T (n.4383-3C>T)
n.4412-3C>T
c.3173-3C>T
c.4191-3C>T (n.4191-3C>T)
c.4389-3C>T (n.4389-3C>T)
c.4197-3C>T (n.4197-3C>T)
n.4478-3C>T
n.4472-3C>T
 dbSNP gnomAD v2 gnomAD v4
3g.142515518G=CA1407012007ATRc.4383-3C= (n.4383-3C=)
n.4412-3C=
c.3173-3C=
c.4191-3C= (n.4191-3C=)
c.4389-3C= (n.4389-3C=)
c.4197-3C= (n.4197-3C=)
n.4478-3C=
n.4472-3C=
3g.142515519dupCA2668041877ATRc.4383-4dup (n.4383-4dup)
n.4412-4dup
c.3173-4dup
c.4191-4dup (n.4191-4dup)
c.4389-4dup (n.4389-4dup)
c.4197-4dup (n.4197-4dup)
n.4478-4dup
n.4472-4dup
 gnomAD v4
3g.142515523T>ACA2758701893ATRc.4383-8A>T (n.4383-8A>T)
n.4412-8A>T
c.3173-8A>T
c.4191-8A>T (n.4191-8A>T)
c.4389-8A>T (n.4389-8A>T)
c.4197-8A>T (n.4197-8A>T)
n.4478-8A>T
n.4472-8A>T
3g.142515525T>GCA84720731ATRc.4383-10A>C (n.4383-10A>C)
n.4412-10A>C
c.3173-10A>C
c.4191-10A>C (n.4191-10A>C)
c.4389-10A>C (n.4389-10A>C)
c.4197-10A>C (n.4197-10A>C)
n.4478-10A>C
n.4472-10A>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.142515525T=CA1407012008ATRc.4383-10A= (n.4383-10A=)
n.4412-10A=
c.3173-10A=
c.4191-10A= (n.4191-10A=)
c.4389-10A= (n.4389-10A=)
c.4197-10A= (n.4197-10A=)
n.4478-10A=
n.4472-10A=
3g.142515526G>ACA2577942555ATRc.4383-11C>T (n.4383-11C>T)
n.4412-11C>T
c.3173-11C>T
c.4191-11C>T (n.4191-11C>T)
c.4389-11C>T (n.4389-11C>T)
c.4197-11C>T (n.4197-11C>T)
n.4478-11C>T
n.4472-11C>T
 gnomAD v4
3g.142515527A>CCA2704276646ATRc.4383-12T>G (n.4383-12T>G)
n.4412-12T>G
c.3173-12T>G
c.4191-12T>G (n.4191-12T>G)
c.4389-12T>G (n.4389-12T>G)
c.4197-12T>G (n.4197-12T>G)
n.4478-12T>G
n.4472-12T>G
 dbSNP
3g.142515529A>CCA2758701894ATRc.4383-14T>G (n.4383-14T>G)
n.4412-14T>G
c.3173-14T>G
c.4191-14T>G (n.4191-14T>G)
c.4389-14T>G (n.4389-14T>G)
c.4197-14T>G (n.4197-14T>G)
n.4478-14T>G
n.4472-14T>G
3g.142515529A>GCA2704276685ATRc.4383-14T>C (n.4383-14T>C)
n.4412-14T>C
c.3173-14T>C
c.4191-14T>C (n.4191-14T>C)
c.4389-14T>C (n.4389-14T>C)
c.4197-14T>C (n.4197-14T>C)
n.4478-14T>C
n.4472-14T>C
 dbSNP
3g.142515530A>CCA2668041878ATRc.4383-15T>G (n.4383-15T>G)
n.4412-15T>G
c.3173-15T>G
c.4191-15T>G (n.4191-15T>G)
c.4389-15T>G (n.4389-15T>G)
c.4197-15T>G (n.4197-15T>G)
n.4478-15T>G
n.4472-15T>G
 gnomAD v4
3g.142515530A>GCA2668041879ATRc.4383-15T>C (n.4383-15T>C)
n.4412-15T>C
c.3173-15T>C
c.4191-15T>C (n.4191-15T>C)
c.4389-15T>C (n.4389-15T>C)
c.4197-15T>C (n.4197-15T>C)
n.4478-15T>C
n.4472-15T>C
 gnomAD v4
3g.142515530A>TCA2758701895ATRc.4383-15T>A (n.4383-15T>A)
n.4412-15T>A
c.3173-15T>A
c.4191-15T>A (n.4191-15T>A)
c.4389-15T>A (n.4389-15T>A)
c.4197-15T>A (n.4197-15T>A)
n.4478-15T>A
n.4472-15T>A
3g.142515530_142515534delinsATTTGCA1407012009ATRc.4383-19_4383-15delinsCAAAT (n.4383-19_4383-15delinsCAAAT)
n.4412-19_4412-15delinsCAAAT
c.3173-19_3173-15delinsCAAAT
c.4191-19_4191-15delinsCAAAT (n.4191-19_4191-15delinsCAAAT)
c.4389-19_4389-15delinsCAAAT (n.4389-19_4389-15delinsCAAAT)
c.4197-19_4197-15delinsCAAAT (n.4197-19_4197-15delinsCAAAT)
n.4478-19_4478-15delinsCAAAT
n.4472-19_4472-15delinsCAAAT
3g.142515531T>ACA2704276698ATRc.4383-16A>T (n.4383-16A>T)
n.4412-16A>T
c.3173-16A>T
c.4191-16A>T (n.4191-16A>T)
c.4389-16A>T (n.4389-16A>T)
c.4197-16A>T (n.4197-16A>T)
n.4478-16A>T
n.4472-16A>T
 dbSNP
3g.142515531T>CCA2577942556ATRc.4383-16A>G (n.4383-16A>G)
n.4412-16A>G
c.3173-16A>G
c.4191-16A>G (n.4191-16A>G)
c.4389-16A>G (n.4389-16A>G)
c.4197-16A>G (n.4197-16A>G)
n.4478-16A>G
n.4472-16A>G
3g.142515531T>GCA2668041880ATRc.4383-16A>C (n.4383-16A>C)
n.4412-16A>C
c.3173-16A>C
c.4191-16A>C (n.4191-16A>C)
c.4389-16A>C (n.4389-16A>C)
c.4197-16A>C (n.4197-16A>C)
n.4478-16A>C
n.4472-16A>C
 gnomAD v4
3g.142515534_142515537delCA2649862ATRc.4383-19_4383-16del (n.4383-19_4383-16del)
n.4412-19_4412-16del
c.3173-19_3173-16del
c.4191-19_4191-16del (n.4191-19_4191-16del)
c.4389-19_4389-16del (n.4389-19_4389-16del)
c.4197-19_4197-16del (n.4197-19_4197-16del)
n.4478-19_4478-16del
n.4472-19_4472-16del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.142515531_142515532insAACA2758701896ATRc.4383-17_4383-16insTT (n.4383-17_4383-16insTT)
n.4412-17_4412-16insTT
c.3173-17_3173-16insTT
c.4191-17_4191-16insTT (n.4191-17_4191-16insTT)
c.4389-17_4389-16insTT (n.4389-17_4389-16insTT)
c.4197-17_4197-16insTT (n.4197-17_4197-16insTT)
n.4478-17_4478-16insTT
n.4472-17_4472-16insTT
3g.142515532T>CCA899915504ATRc.4383-17A>G (n.4383-17A>G)
n.4412-17A>G
c.3173-17A>G
c.4191-17A>G (n.4191-17A>G)
c.4389-17A>G (n.4389-17A>G)
c.4197-17A>G (n.4197-17A>G)
n.4478-17A>G
n.4472-17A>G
 dbSNP gnomAD v4
3g.142515532T>GCA899915505ATRc.4383-17A>C (n.4383-17A>C)
n.4412-17A>C
c.3173-17A>C
c.4191-17A>C (n.4191-17A>C)
c.4389-17A>C (n.4389-17A>C)
c.4197-17A>C (n.4197-17A>C)
n.4478-17A>C
n.4472-17A>C
 ClinVar dbSNP gnomAD v4
3g.142515532T=CA1407012010ATRc.4383-17A= (n.4383-17A=)
n.4412-17A=
c.3173-17A=
c.4191-17A= (n.4191-17A=)
c.4389-17A= (n.4389-17A=)
c.4197-17A= (n.4197-17A=)
n.4478-17A=
n.4472-17A=
3g.142515533T>GCA2704276775ATRc.4383-18A>C (n.4383-18A>C)
n.4412-18A>C
c.3173-18A>C
c.4191-18A>C (n.4191-18A>C)
c.4389-18A>C (n.4389-18A>C)
c.4197-18A>C (n.4197-18A>C)
n.4478-18A>C
n.4472-18A>C
 dbSNP
3g.142515534G>ACA2649863ATRc.4383-19C>T (n.4383-19C>T)
n.4412-19C>T
c.3173-19C>T
c.4191-19C>T (n.4191-19C>T)
c.4389-19C>T (n.4389-19C>T)
c.4197-19C>T (n.4197-19C>T)
n.4478-19C>T
n.4472-19C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.142515534G>CCA2668041881ATRc.4383-19C>G (n.4383-19C>G)
n.4412-19C>G
c.3173-19C>G
c.4191-19C>G (n.4191-19C>G)
c.4389-19C>G (n.4389-19C>G)
c.4197-19C>G (n.4197-19C>G)
n.4478-19C>G
n.4472-19C>G
 gnomAD v4
3g.142515534G=CA1407012011ATRc.4383-19C= (n.4383-19C=)
n.4412-19C=
c.3173-19C=
c.4191-19C= (n.4191-19C=)
c.4389-19C= (n.4389-19C=)
c.4197-19C= (n.4197-19C=)
n.4478-19C=
n.4472-19C=
3g.142515534G>TCA2668041882ATRc.4383-19C>A (n.4383-19C>A)
n.4412-19C>A
c.3173-19C>A
c.4191-19C>A (n.4191-19C>A)
c.4389-19C>A (n.4389-19C>A)
c.4197-19C>A (n.4197-19C>A)
n.4478-19C>A
n.4472-19C>A
 gnomAD v4
3g.142515537delCA2668041883ATRc.4383-20del (n.4383-20del)
n.4412-20del
c.3173-20del
c.4191-20del (n.4191-20del)
c.4389-20del (n.4389-20del)
c.4197-20del (n.4197-20del)
n.4478-20del
n.4472-20del
 gnomAD v4
3g.142515535_142515536insCAGCACA2704276806ATRc.4383-21_4383-20insTGCTG (n.4383-21_4383-20insTGCTG)
n.4412-21_4412-20insTGCTG
c.3173-21_3173-20insTGCTG
c.4191-21_4191-20insTGCTG (n.4191-21_4191-20insTGCTG)
c.4389-21_4389-20insTGCTG (n.4389-21_4389-20insTGCTG)
c.4197-21_4197-20insTGCTG (n.4197-21_4197-20insTGCTG)
n.4478-21_4478-20insTGCTG
n.4472-21_4472-20insTGCTG
 dbSNP
3g.142515536T>CCA546573560ATRc.4383-21A>G (n.4383-21A>G)
n.4412-21A>G
c.3173-21A>G
c.4191-21A>G (n.4191-21A>G)
c.4389-21A>G (n.4389-21A>G)
c.4197-21A>G (n.4197-21A>G)
n.4478-21A>G
n.4472-21A>G
 dbSNP gnomAD v2 gnomAD v4
3g.142515536T=CA1407012013ATRc.4383-21A= (n.4383-21A=)
n.4412-21A=
c.3173-21A=
c.4191-21A= (n.4191-21A=)
c.4389-21A= (n.4389-21A=)
c.4197-21A= (n.4197-21A=)
n.4478-21A=
n.4472-21A=
3g.142515536_142515547delinsTTATTAAAAAGACA1407012012ATRc.4383-32_4383-21delinsTCTTTTTAATAA (n.4383-32_4383-21delinsTCTTTTTAATAA)
n.4412-32_4412-21delinsTCTTTTTAATAA
c.3173-32_3173-21delinsTCTTTTTAATAA
c.4191-32_4191-21delinsTCTTTTTAATAA (n.4191-32_4191-21delinsTCTTTTTAATAA)
c.4389-32_4389-21delinsTCTTTTTAATAA (n.4389-32_4389-21delinsTCTTTTTAATAA)
c.4197-32_4197-21delinsTCTTTTTAATAA (n.4197-32_4197-21delinsTCTTTTTAATAA)
n.4478-32_4478-21delinsTCTTTTTAATAA
n.4472-32_4472-21delinsTCTTTTTAATAA
3g.142515537T>ACA2668041884ATRc.4383-22A>T (n.4383-22A>T)
n.4412-22A>T
c.3173-22A>T
c.4191-22A>T (n.4191-22A>T)
c.4389-22A>T (n.4389-22A>T)
c.4197-22A>T (n.4197-22A>T)
n.4478-22A>T
n.4472-22A>T
 gnomAD v4
3g.142515537T>GCA1407012015ATRc.4383-22A>C (n.4383-22A>C)
n.4412-22A>C
c.3173-22A>C
c.4191-22A>C (n.4191-22A>C)
c.4389-22A>C (n.4389-22A>C)
c.4197-22A>C (n.4197-22A>C)
n.4478-22A>C
n.4472-22A>C
 dbSNP gnomAD v4
3g.142515537T=CA1407012014ATRc.4383-22A= (n.4383-22A=)
n.4412-22A=
c.3173-22A=
c.4191-22A= (n.4191-22A=)
c.4389-22A= (n.4389-22A=)
c.4197-22A= (n.4197-22A=)
n.4478-22A=
n.4472-22A=
3g.142515539_142515549delCA899915512ATRc.4383-32_4383-22del (n.4383-32_4383-22del)
n.4412-32_4412-22del
c.3173-32_3173-22del
c.4191-32_4191-22del (n.4191-32_4191-22del)
c.4389-32_4389-22del (n.4389-32_4389-22del)
c.4197-32_4197-22del (n.4197-32_4197-22del)
n.4478-32_4478-22del
n.4472-32_4472-22del
 dbSNP gnomAD v3 gnomAD v4
3g.142515538A=CA1407012016ATRc.4383-23T= (n.4383-23T=)
n.4412-23T=
c.3173-23T=
c.4191-23T= (n.4191-23T=)
c.4389-23T= (n.4389-23T=)
c.4197-23T= (n.4197-23T=)
n.4478-23T=
n.4472-23T=
3g.142515538A>TCA546573561ATRc.4383-23T>A (n.4383-23T>A)
n.4412-23T>A
c.3173-23T>A
c.4191-23T>A (n.4191-23T>A)
c.4389-23T>A (n.4389-23T>A)
c.4197-23T>A (n.4197-23T>A)
n.4478-23T>A
n.4472-23T>A
 dbSNP gnomAD v2
3g.142515539T>GCA1054331983ATRc.4383-24A>C (n.4383-24A>C)
n.4412-24A>C
c.3173-24A>C
c.4191-24A>C (n.4191-24A>C)
c.4389-24A>C (n.4389-24A>C)
c.4197-24A>C (n.4197-24A>C)
n.4478-24A>C
n.4472-24A>C
 dbSNP gnomAD v3 gnomAD v4
3g.142515539T=CA1407012017ATRc.4383-24A= (n.4383-24A=)
n.4412-24A=
c.3173-24A=
c.4191-24A= (n.4191-24A=)
c.4389-24A= (n.4389-24A=)
c.4197-24A= (n.4197-24A=)
n.4478-24A=
n.4472-24A=
3g.142515540T>ACA2668041885ATRc.4383-25A>T (n.4383-25A>T)
n.4412-25A>T
c.3173-25A>T
c.4191-25A>T (n.4191-25A>T)
c.4389-25A>T (n.4389-25A>T)
c.4197-25A>T (n.4197-25A>T)
n.4478-25A>T
n.4472-25A>T
 gnomAD v4
3g.142515540T>CCA2649864ATRc.4383-25A>G (n.4383-25A>G)
n.4412-25A>G
c.3173-25A>G
c.4191-25A>G (n.4191-25A>G)
c.4389-25A>G (n.4389-25A>G)
c.4197-25A>G (n.4197-25A>G)
n.4478-25A>G
n.4472-25A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.142515540T=CA1407012019ATRc.4383-25A= (n.4383-25A=)
n.4412-25A=
c.3173-25A=
c.4191-25A= (n.4191-25A=)
c.4389-25A= (n.4389-25A=)
c.4197-25A= (n.4197-25A=)
n.4478-25A=
n.4472-25A=
3g.142515540_142515541delinsTACA1407012018ATRc.4383-26_4383-25delinsTA (n.4383-26_4383-25delinsTA)
n.4412-26_4412-25delinsTA
c.3173-26_3173-25delinsTA
c.4191-26_4191-25delinsTA (n.4191-26_4191-25delinsTA)
c.4389-26_4389-25delinsTA (n.4389-26_4389-25delinsTA)
c.4197-26_4197-25delinsTA (n.4197-26_4197-25delinsTA)
n.4478-26_4478-25delinsTA
n.4472-26_4472-25delinsTA
3g.142515545dupCA2668041886ATRc.4383-26dup (n.4383-26dup)
n.4412-26dup
c.3173-26dup
c.4191-26dup (n.4191-26dup)
c.4389-26dup (n.4389-26dup)
c.4197-26dup (n.4197-26dup)
n.4478-26dup
n.4472-26dup
 gnomAD v4
3g.142515545delCA2649865ATRc.4383-26del (n.4383-26del)
n.4412-26del
c.3173-26del
c.4191-26del (n.4191-26del)
c.4389-26del (n.4389-26del)
c.4197-26del (n.4197-26del)
n.4478-26del
n.4472-26del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.142515542A>GCA2577942557ATRc.4383-27T>C (n.4383-27T>C)
n.4412-27T>C
c.3173-27T>C
c.4191-27T>C (n.4191-27T>C)
c.4389-27T>C (n.4389-27T>C)
c.4197-27T>C (n.4197-27T>C)
n.4478-27T>C
n.4472-27T>C
3g.142515543A=CA1407012020ATRc.4383-28T= (n.4383-28T=)
n.4412-28T=
c.3173-28T=
c.4191-28T= (n.4191-28T=)
c.4389-28T= (n.4389-28T=)
c.4197-28T= (n.4197-28T=)
n.4478-28T=
n.4472-28T=
3g.142515543A>GCA899915534ATRc.4383-28T>C (n.4383-28T>C)
n.4412-28T>C
c.3173-28T>C
c.4191-28T>C (n.4191-28T>C)
c.4389-28T>C (n.4389-28T>C)
c.4197-28T>C (n.4197-28T>C)
n.4478-28T>C
n.4472-28T>C
 dbSNP gnomAD v4
3g.142515544A>CCA2668041887ATRc.4383-29T>G (n.4383-29T>G)
n.4412-29T>G
c.3173-29T>G
c.4191-29T>G (n.4191-29T>G)
c.4389-29T>G (n.4389-29T>G)
c.4197-29T>G (n.4197-29T>G)
n.4478-29T>G
n.4472-29T>G
 gnomAD v4
3g.142515545A>TCA2668041888ATRc.4383-30T>A (n.4383-30T>A)
n.4412-30T>A
c.3173-30T>A
c.4191-30T>A (n.4191-30T>A)
c.4389-30T>A (n.4389-30T>A)
c.4197-30T>A (n.4197-30T>A)
n.4478-30T>A
n.4472-30T>A
 gnomAD v4
3g.142515547A>GCA2668041889ATRc.4383-32T>C (n.4383-32T>C)
n.4412-32T>C
c.3173-32T>C
c.4191-32T>C (n.4191-32T>C)
c.4389-32T>C (n.4389-32T>C)
c.4197-32T>C (n.4197-32T>C)
n.4478-32T>C
n.4472-32T>C
 gnomAD v4
3g.142515549A=CA1407012021ATRc.4383-34T= (n.4383-34T=)
n.4412-34T=
c.3173-34T=
c.4191-34T= (n.4191-34T=)
c.4389-34T= (n.4389-34T=)
c.4197-34T= (n.4197-34T=)
n.4478-34T=
n.4472-34T=
3g.142515549A>GCA1407012022ATRc.4383-34T>C (n.4383-34T>C)
n.4412-34T>C
c.3173-34T>C
c.4191-34T>C (n.4191-34T>C)
c.4389-34T>C (n.4389-34T>C)
c.4197-34T>C (n.4197-34T>C)
n.4478-34T>C
n.4472-34T>C
 dbSNP

Number of alleles fetched