Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.36995575dupCA559295090NIPBLc.3122-47dup (p.=)
c.2378-47dup (p.=)
c.3122-5242dup (p.=)
c.2462-47dup (p.=)
c.1505-47dup (p.=)
c.1496-47dup (p.=)
n.426dup
n.2742-47dup
c.1-69003dup (p.=)
dbSNP gnomAD
5g.36995574T>GCA810296226NIPBLc.3122-48T>G (p.=)
c.2378-48T>G (p.=)
c.3122-5243T>G (p.=)
c.2462-48T>G (p.=)
c.1505-48T>G (p.=)
c.1496-48T>G (p.=)
n.425T>G
n.2742-48T>G
c.1-69004T>G (p.=)
5g.36995574_36995578delCA3236279NIPBLc.3122-48_3122-44del (p.=)
c.2378-48_2378-44del (p.=)
c.3122-5243_3122-5239del (p.=)
c.2462-48_2462-44del (p.=)
c.1505-48_1505-44del (p.=)
c.1496-48_1496-44del (p.=)
n.425_429del
n.2742-48_2742-44del
c.1-69004_1-69000del (p.=)
dbSNP ExAC gnomAD
5g.36995575T>CCA3236280NIPBLc.3122-47T>C (p.=)
c.2378-47T>C (p.=)
c.3122-5242T>C (p.=)
c.2462-47T>C (p.=)
c.1505-47T>C (p.=)
c.1496-47T>C (p.=)
n.426T>C
n.2742-47T>C
c.1-69003T>C (p.=)
dbSNP ExAC gnomAD
5g.36995576A>GCA559295091NIPBLc.3122-46A>G (p.=)
c.2378-46A>G (p.=)
c.3122-5241A>G (p.=)
c.2462-46A>G (p.=)
c.1505-46A>G (p.=)
c.1496-46A>G (p.=)
n.427A>G
n.2742-46A>G
c.1-69002A>G (p.=)
gnomAD
5g.36995581C>TCA650141218NIPBLc.3122-41C>T (p.=)
c.2378-41C>T (p.=)
c.3122-5236C>T (p.=)
c.2462-41C>T (p.=)
c.1505-41C>T (p.=)
c.1496-41C>T (p.=)
n.432C>T
n.2742-41C>T
c.1-68997C>T (p.=)
COSMIC COSMIC
5g.36995582A>GCA117052582NIPBLc.3122-40A>G (p.=)
c.2378-40A>G (p.=)
c.3122-5235A>G (p.=)
c.2462-40A>G (p.=)
c.1505-40A>G (p.=)
c.1496-40A>G (p.=)
n.433A>G
n.2742-40A>G
c.1-68996A>G (p.=)
dbSNP
5g.36995583G>TCA559295092NIPBLc.3122-39G>T (p.=)
c.2378-39G>T (p.=)
c.3122-5234G>T (p.=)
c.2462-39G>T (p.=)
c.1505-39G>T (p.=)
c.1496-39G>T (p.=)
n.434G>T
n.2742-39G>T
c.1-68995G>T (p.=)
gnomAD
5g.36995585T>CCA117052585NIPBLc.3122-37T>C (p.=)
c.2378-37T>C (p.=)
c.3122-5232T>C (p.=)
c.2462-37T>C (p.=)
c.1505-37T>C (p.=)
c.1496-37T>C (p.=)
n.436T>C
n.2742-37T>C
c.1-68993T>C (p.=)
dbSNP gnomAD
5g.36995587dupCA1075107963NIPBLc.3122-35dup (p.=)
c.2378-35dup (p.=)
c.3122-5230dup (p.=)
c.2462-35dup (p.=)
c.1505-35dup (p.=)
c.1496-35dup (p.=)
n.438dup
n.2742-35dup
c.1-68991dup (p.=)
5g.36995587T>CCA117052589NIPBLc.3122-35T>C (p.=)
c.2378-35T>C (p.=)
c.3122-5230T>C (p.=)
c.2462-35T>C (p.=)
c.1505-35T>C (p.=)
c.1496-35T>C (p.=)
n.438T>C
n.2742-35T>C
c.1-68991T>C (p.=)
dbSNP gnomAD
5g.36995588A>GCA1075107969NIPBLc.3122-34A>G (p.=)
c.2378-34A>G (p.=)
c.3122-5229A>G (p.=)
c.2462-34A>G (p.=)
c.1505-34A>G (p.=)
c.1496-34A>G (p.=)
n.439A>G
n.2742-34A>G
c.1-68990A>G (p.=)
5g.36995590A>GCA3236283NIPBLc.3122-32A>G (p.=)
c.2378-32A>G (p.=)
c.3122-5227A>G (p.=)
c.2462-32A>G (p.=)
c.1505-32A>G (p.=)
c.1496-32A>G (p.=)
n.441A>G
n.2742-32A>G
c.1-68988A>G (p.=)
dbSNP ExAC gnomAD
5g.36995600dupCA3236282NIPBLc.3122-22dup (p.=)
c.2378-22dup (p.=)
c.3122-5217dup (p.=)
c.2462-22dup (p.=)
c.1505-22dup (p.=)
c.1496-22dup (p.=)
n.451dup
n.2742-22dup
c.1-68978dup (p.=)
dbSNP ExAC gnomAD
5g.36995595_36995600dupCA917452565NIPBLc.3122-27_3122-22dup (p.=)
c.2378-27_2378-22dup (p.=)
c.3122-5222_3122-5217dup (p.=)
c.2462-27_2462-22dup (p.=)
c.1505-27_1505-22dup (p.=)
c.1496-27_1496-22dup (p.=)
n.446_451dup
n.2742-27_2742-22dup
c.1-68983_1-68978dup (p.=)
dbSNP
5g.36995591delCA3236281NIPBLc.3122-31del (p.=)
c.2378-31del (p.=)
c.3122-5226del (p.=)
c.2462-31del (p.=)
c.1505-31del (p.=)
c.1496-31del (p.=)
n.442del
n.2742-31del
c.1-68987del (p.=)
dbSNP dbSNP ExAC gnomAD COSMIC
5g.36995592T>GCA1075107975NIPBLc.3122-30T>G (p.=)
c.2378-30T>G (p.=)
c.3122-5225T>G (p.=)
c.2462-30T>G (p.=)
c.1505-30T>G (p.=)
c.1496-30T>G (p.=)
n.443T>G
n.2742-30T>G
c.1-68986T>G (p.=)
5g.36995594T>ACA559295093NIPBLc.3122-28T>A (p.=)
c.2378-28T>A (p.=)
c.3122-5223T>A (p.=)
c.2462-28T>A (p.=)
c.1505-28T>A (p.=)
c.1496-28T>A (p.=)
n.445T>A
n.2742-28T>A
c.1-68984T>A (p.=)
gnomAD
5g.36995599T>CCA443903873NIPBLc.3122-23T>C (p.=)
c.2378-23T>C (p.=)
c.3122-5218T>C (p.=)
c.2462-23T>C (p.=)
c.1505-23T>C (p.=)
c.1496-23T>C (p.=)
n.450T>C
n.2742-23T>C
c.1-68979T>C (p.=)
5g.36995600T>ACA3236284NIPBLc.3122-22T>A (p.=)
c.2378-22T>A (p.=)
c.3122-5217T>A (p.=)
c.2462-22T>A (p.=)
c.1505-22T>A (p.=)
c.1496-22T>A (p.=)
n.451T>A
n.2742-22T>A
c.1-68978T>A (p.=)
dbSNP ExAC gnomAD COSMIC
5g.36995601A>TCA3236285NIPBLc.3122-21A>T (p.=)
c.2378-21A>T (p.=)
c.3122-5216A>T (p.=)
c.2462-21A>T (p.=)
c.1505-21A>T (p.=)
c.1496-21A>T (p.=)
n.452A>T
n.2742-21A>T
c.1-68977A>T (p.=)
dbSNP ExAC gnomAD
5g.36995601_36995603delCA559295094NIPBLc.3122-21_3122-19del (p.=)
c.2378-21_2378-19del (p.=)
c.3122-5216_3122-5214del (p.=)
c.2462-21_2462-19del (p.=)
c.1505-21_1505-19del (p.=)
c.1496-21_1496-19del (p.=)
n.452_454del
n.2742-21_2742-19del
c.1-68977_1-68975del (p.=)
dbSNP gnomAD
5g.36995602A>TCA559295095NIPBLc.3122-20A>T (p.=)
c.2378-20A>T (p.=)
c.3122-5215A>T (p.=)
c.2462-20A>T (p.=)
c.1505-20A>T (p.=)
c.1496-20A>T (p.=)
n.453A>T
n.2742-20A>T
c.1-68976A>T (p.=)
gnomAD
5g.36995603A>TCA559295096NIPBLc.3122-19A>T (p.=)
c.2378-19A>T (p.=)
c.3122-5214A>T (p.=)
c.2462-19A>T (p.=)
c.1505-19A>T (p.=)
c.1496-19A>T (p.=)
n.454A>T
n.2742-19A>T
c.1-68975A>T (p.=)
gnomAD
5g.36995604T>ACA3236286NIPBLc.3122-18T>A (p.=)
c.2378-18T>A (p.=)
c.3122-5213T>A (p.=)
c.2462-18T>A (p.=)
c.1505-18T>A (p.=)
c.1496-18T>A (p.=)
n.455T>A
n.2742-18T>A
c.1-68974T>A (p.=)
dbSNP ExAC gnomAD
5g.36995605T>GCA3236287NIPBLc.3122-17T>G (p.=)
c.2378-17T>G (p.=)
c.3122-5212T>G (p.=)
c.2462-17T>G (p.=)
c.1505-17T>G (p.=)
c.1496-17T>G (p.=)
n.456T>G
n.2742-17T>G
c.1-68973T>G (p.=)
dbSNP ExAC gnomAD
5g.36995607A>GCA559295098NIPBLc.3122-15A>G (p.=)
c.2378-15A>G (p.=)
c.3122-5210A>G (p.=)
c.2462-15A>G (p.=)
c.1505-15A>G (p.=)
c.1496-15A>G (p.=)
n.458A>G
n.2742-15A>G
c.1-68971A>G (p.=)
gnomAD
5g.36995607A>TCA559295097NIPBLc.3122-15A>T (p.=)
c.2378-15A>T (p.=)
c.3122-5210A>T (p.=)
c.2462-15A>T (p.=)
c.1505-15A>T (p.=)
c.1496-15A>T (p.=)
n.458A>T
n.2742-15A>T
c.1-68971A>T (p.=)
gnomAD COSMIC COSMIC
5g.36995607_36995609delCA559295099NIPBLc.3122-15_3122-13del (p.=)
c.2378-15_2378-13del (p.=)
c.3122-5210_3122-5208del (p.=)
c.2462-15_2462-13del (p.=)
c.1505-15_1505-13del (p.=)
c.1496-15_1496-13del (p.=)
n.458_460del
n.2742-15_2742-13del
c.1-68971_1-68969del (p.=)
dbSNP gnomAD
5g.36995608C>TCA3236288NIPBLc.3122-14C>T (p.=)
c.2378-14C>T (p.=)
c.3122-5209C>T (p.=)
c.2462-14C>T (p.=)
c.1505-14C>T (p.=)
c.1496-14C>T (p.=)
n.459C>T
n.2742-14C>T
c.1-68970C>T (p.=)
dbSNP ExAC gnomAD
5g.36995609C>TCA1075107986NIPBLc.3122-13C>T (p.=)
c.2378-13C>T (p.=)
c.3122-5208C>T (p.=)
c.2462-13C>T (p.=)
c.1505-13C>T (p.=)
c.1496-13C>T (p.=)
n.460C>T
n.2742-13C>T
c.1-68969C>T (p.=)
5g.36995609_36995610insTTTTTTCA559295100NIPBLc.3122-13_3122-12insTTTTTT (p.=)
c.2378-13_2378-12insTTTTTT (p.=)
c.3122-5208_3122-5207insTTTTTT (p.=)
c.2462-13_2462-12insTTTTTT (p.=)
c.1505-13_1505-12insTTTTTT (p.=)
c.1496-13_1496-12insTTTTTT (p.=)
n.460_461insTTTTTT
n.2742-13_2742-12insTTTTTT
c.1-68969_1-68968insTTTTTT (p.=)
dbSNP gnomAD
5g.36995614A>TCA117052655NIPBLc.3122-8A>T (p.=)
c.2378-8A>T (p.=)
c.3122-5203A>T (p.=)
c.2462-8A>T (p.=)
c.1505-8A>T (p.=)
c.1496-8A>T (p.=)
n.465A>T
n.2742-8A>T
c.1-68964A>T (p.=)
dbSNP
5g.36995617A>GCA810296262NIPBLc.3122-5A>G (p.=)
c.2378-5A>G (p.=)
c.3122-5200A>G (p.=)
c.2462-5A>G (p.=)
c.1505-5A>G (p.=)
c.1496-5A>G (p.=)
n.468A>G
n.2742-5A>G
c.1-68961A>G (p.=)
5g.36995620A>CCA359513239NIPBLc.3122-2A>C (p.=)
c.2378-2A>C (p.=)
c.3122-5197A>C (p.=)
c.2462-2A>C (p.=)
c.1505-2A>C (p.=)
c.1496-2A>C (p.=)
n.471A>C
n.2742-2A>C
c.1-68958A>C (p.=)
5g.36995620A>GCA272047NIPBLc.3122-2A>G (p.=)
c.2378-2A>G (p.=)
c.3122-5197A>G (p.=)
c.2462-2A>G (p.=)
c.1505-2A>G (p.=)
c.1496-2A>G (p.=)
n.471A>G
n.2742-2A>G
c.1-68958A>G (p.=)
ClinVar dbSNP
5g.36995620A>TCA359513241NIPBLc.3122-2A>T (p.=)
c.2378-2A>T (p.=)
c.3122-5197A>T (p.=)
c.2462-2A>T (p.=)
c.1505-2A>T (p.=)
c.1496-2A>T (p.=)
n.471A>T
n.2742-2A>T
c.1-68958A>T (p.=)
5g.36995621G>ACA359513245NIPBLc.3122-1G>A (p.=)
c.2378-1G>A (p.=)
c.3122-5196G>A (p.=)
c.2462-1G>A (p.=)
c.1505-1G>A (p.=)
c.1496-1G>A (p.=)
n.472G>A
n.2742-1G>A
c.1-68957G>A (p.=)
5g.36995621G>CCA359513247NIPBLc.3122-1G>C (p.=)
c.2378-1G>C (p.=)
c.3122-5196G>C (p.=)
c.2462-1G>C (p.=)
c.1505-1G>C (p.=)
c.1496-1G>C (p.=)
n.472G>C
n.2742-1G>C
c.1-68957G>C (p.=)
5g.36995621G>TCA359513249NIPBLc.3122-1G>T (p.=)
c.2378-1G>T (p.=)
c.3122-5196G>T (p.=)
c.2462-1G>T (p.=)
c.1505-1G>T (p.=)
c.1496-1G>T (p.=)
n.472G>T
n.2742-1G>T
c.1-68957G>T (p.=)
5g.36995622G>ACA359513252NIPBLc.3122G>A (p.Gly1041Asp)
c.2378G>A (p.Gly793Asp)
c.3122-5195G>A (p.=)
c.2462G>A (p.Gly821Asp)
c.1505G>A (p.Gly502Asp)
c.1496G>A (p.Gly499Asp)
n.473G>A
n.2742G>A
c.1-68956G>A (p.=)
5g.36995622G>CCA359513255NIPBLc.3122G>C (p.Gly1041Ala)
c.2378G>C (p.Gly793Ala)
c.3122-5195G>C (p.=)
c.2462G>C (p.Gly821Ala)
c.1505G>C (p.Gly502Ala)
c.1496G>C (p.Gly499Ala)
n.473G>C
n.2742G>C
c.1-68956G>C (p.=)
5g.36995622G>TCA359513257NIPBLc.3122G>T (p.Gly1041Val)
c.2378G>T (p.Gly793Val)
c.3122-5195G>T (p.=)
c.2462G>T (p.Gly821Val)
c.1505G>T (p.Gly502Val)
c.1496G>T (p.Gly499Val)
n.473G>T
n.2742G>T
c.1-68956G>T (p.=)
5g.36995623T>ACA443903874NIPBLc.3123T>A (p.Gly1041=)
c.2379T>A (p.Gly793=)
c.3122-5194T>A (p.=)
c.2463T>A (p.Gly821=)
c.1506T>A (p.Gly502=)
c.1497T>A (p.Gly499=)
n.474T>A
n.2743T>A
c.1-68955T>A (p.=)
5g.36995623T>CCA443903875NIPBLc.3123T>C (p.Gly1041=)
c.2379T>C (p.Gly793=)
c.3122-5194T>C (p.=)
c.2463T>C (p.Gly821=)
c.1506T>C (p.Gly502=)
c.1497T>C (p.Gly499=)
n.474T>C
n.2743T>C
c.1-68955T>C (p.=)
5g.36995623T>GCA3236289NIPBLc.3123T>G (p.Gly1041=)
c.2379T>G (p.Gly793=)
c.3122-5194T>G (p.=)
c.2463T>G (p.Gly821=)
c.1506T>G (p.Gly502=)
c.1497T>G (p.Gly499=)
n.474T>G
n.2743T>G
c.1-68955T>G (p.=)
dbSNP ExAC gnomAD
5g.36995624A>CCA359513263NIPBLc.3124A>C (p.Ser1042Arg)
c.2380A>C (p.Ser794Arg)
c.3122-5193A>C (p.=)
c.2464A>C (p.Ser822Arg)
c.1507A>C (p.Ser503Arg)
c.1498A>C (p.Ser500Arg)
n.475A>C
n.2744A>C
c.1-68954A>C (p.=)
5g.36995624A>GCA3236290NIPBLc.3124A>G (p.Ser1042Gly)
c.2380A>G (p.Ser794Gly)
c.3122-5193A>G (p.=)
c.2464A>G (p.Ser822Gly)
c.1507A>G (p.Ser503Gly)
c.1498A>G (p.Ser500Gly)
n.475A>G
n.2744A>G
c.1-68954A>G (p.=)
dbSNP ExAC gnomAD
5g.36995624A>TCA359513267NIPBLc.3124A>T (p.Ser1042Cys)
c.2380A>T (p.Ser794Cys)
c.3122-5193A>T (p.=)
c.2464A>T (p.Ser822Cys)
c.1507A>T (p.Ser503Cys)
c.1498A>T (p.Ser500Cys)
n.475A>T
n.2744A>T
c.1-68954A>T (p.=)
5g.36995625G>ACA359513276NIPBLc.3125G>A (p.Ser1042Asn)
c.2381G>A (p.Ser794Asn)
c.3122-5192G>A (p.=)
c.2465G>A (p.Ser822Asn)
c.1508G>A (p.Ser503Asn)
c.1499G>A (p.Ser500Asn)
n.476G>A
n.2745G>A
c.1-68953G>A (p.=)
gnomAD COSMIC COSMIC

Number of alleles fetched