Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.151493782_151493783delCA204752NEB,RIF1c.3075-1288_3075-1287del
c.1264_1265del
c.6470+379_6470+380del
n.2657-1288_2657-1287del
c.24665_24666del (p.Phe8222Ter)
c.19097_19098del (p.Phe6366Ter)
c.1066_1067del
c.8211+379_8211+380del (n.8211+379_8211+380del)
c.1101_1102del
c.1487+379_1487+380del
c.2656-1447_2656-1446del
n.481-1447_481-1446del
n.226-1288_226-1287del
c.24770_24771del (p.Phe8257Ter)
c.24572_24573del (p.Phe8191Ter)
c.24580-337_24580-336del (n.24580-337_24580-336del)
c.24479_24480del (p.Phe8160Ter)
c.24579+379_24579+380del (n.24579+379_24579+380del)
c.24386_24387del (p.Phe8129Ter)
c.24293_24294del (p.Phe8098Ter)
c.24200_24201del (p.Phe8067Ter)
c.24208-337_24208-336del (n.24208-337_24208-336del)
c.24107_24108del (p.Phe8036Ter)
c.24014_24015del (p.Phe8005Ter)
c.24022-337_24022-336del (n.24022-337_24022-336del)
c.23936_23937del (p.Phe7979Ter)
c.24021+379_24021+380del (n.24021+379_24021+380del)
c.21749_21750del (p.Phe7250Ter)
c.23921_23922del (p.Phe7974Ter)
c.22478_22479del (p.Phe7493Ter)
c.20291_20292del (p.Phe6764Ter)
n.7839-1447_7839-1446del
n.7838+10447_7838+10448del
n.7839-4004_7839-4003del
c.24554_24555del (p.Phe8185Ter)
c.23929-337_23929-336del (n.23929-337_23929-336del)
c.23743-1288_23743-1287del (n.23743-1288_23743-1287del)
n.8214-1447_8214-1446del
n.8214-4004_8214-4003del
n.8214-5623_8214-5622del
n.8214-9252_8214-9251del
n.8213+10447_8213+10448del
 ClinVar dbSNP
2g.151493783delCA10602813NEB,RIF1c.3075-1287del
c.1265del
c.6470+380del
n.2657-1287del
c.24666del (p.Phe8222LeufsTer10)
c.19098del (p.Phe6366LeufsTer10)
c.1067del
c.8211+380del (n.8211+380del)
c.1102del
c.1487+380del
c.2656-1446del
n.481-1446del
n.226-1287del
c.24771del (p.Phe8257LeufsTer10)
c.24573del (p.Phe8191LeufsTer10)
c.24580-336del (n.24580-336del)
c.24480del (p.Phe8160LeufsTer10)
c.24579+380del (n.24579+380del)
c.24387del (p.Phe8129LeufsTer10)
c.24294del (p.Phe8098LeufsTer10)
c.24201del (p.Phe8067LeufsTer10)
c.24208-336del (n.24208-336del)
c.24108del (p.Phe8036LeufsTer10)
c.24015del (p.Phe8005LeufsTer10)
c.24022-336del (n.24022-336del)
c.23937del (p.Phe7979LeufsTer10)
c.24021+380del (n.24021+380del)
c.21750del (p.Phe7250LeufsTer10)
c.23922del (p.Phe7974LeufsTer10)
c.22479del (p.Phe7493LeufsTer10)
c.20292del (p.Phe6764LeufsTer10)
n.7839-1446del
n.7838+10448del
n.7839-4003del
c.24555del (p.Phe8185LeufsTer10)
c.23929-336del (n.23929-336del)
c.23743-1287del (n.23743-1287del)
n.8214-1446del
n.8214-4003del
n.8214-5622del
n.8214-9251del
n.8213+10448del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched