Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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
5g.36995625G>CCA359513273NIPBLc.3125G>C (p.Ser1042Thr)
c.2381G>C (p.Ser794Thr)
c.3122-5192G>C (p.=)
c.2465G>C (p.Ser822Thr)
c.1508G>C (p.Ser503Thr)
c.1499G>C (p.Ser500Thr)
n.476G>C
n.2745G>C
c.1-68953G>C (p.=)
5g.36995625G>TCA359513271NIPBLc.3125G>T (p.Ser1042Ile)
c.2381G>T (p.Ser794Ile)
c.3122-5192G>T (p.=)
c.2465G>T (p.Ser822Ile)
c.1508G>T (p.Ser503Ile)
c.1499G>T (p.Ser500Ile)
n.476G>T
n.2745G>T
c.1-68953G>T (p.=)
5g.36995626T>ACA359513279NIPBLc.3126T>A (p.Ser1042Arg)
c.2382T>A (p.Ser794Arg)
c.3122-5191T>A (p.=)
c.2466T>A (p.Ser822Arg)
c.1509T>A (p.Ser503Arg)
c.1500T>A (p.Ser500Arg)
n.477T>A
n.2746T>A
c.1-68952T>A (p.=)
5g.36995626T>CCA3236291NIPBLc.3126T>C (p.Ser1042=)
c.2382T>C (p.Ser794=)
c.3122-5191T>C (p.=)
c.2466T>C (p.Ser822=)
c.1509T>C (p.Ser503=)
c.1500T>C (p.Ser500=)
n.477T>C
n.2746T>C
c.1-68952T>C (p.=)
ClinVar dbSNP ExAC gnomAD
5g.36995626T>GCA359513281NIPBLc.3126T>G (p.Ser1042Arg)
c.2382T>G (p.Ser794Arg)
c.3122-5191T>G (p.=)
c.2466T>G (p.Ser822Arg)
c.1509T>G (p.Ser503Arg)
c.1500T>G (p.Ser500Arg)
n.477T>G
n.2746T>G
c.1-68952T>G (p.=)
5g.36995627A>CCA359513286NIPBLc.3127A>C (p.Ile1043Leu)
c.2383A>C (p.Ile795Leu)
c.3122-5190A>C (p.=)
c.2467A>C (p.Ile823Leu)
c.1510A>C (p.Ile504Leu)
c.1501A>C (p.Ile501Leu)
n.478A>C
n.2747A>C
c.1-68951A>C (p.=)
5g.36995627A>GCA3236292NIPBLc.3127A>G (p.Ile1043Val)
c.2383A>G (p.Ile795Val)
c.3122-5190A>G (p.=)
c.2467A>G (p.Ile823Val)
c.1510A>G (p.Ile504Val)
c.1501A>G (p.Ile501Val)
n.478A>G
n.2747A>G
c.1-68951A>G (p.=)
dbSNP ExAC gnomAD
5g.36995627A>TCA359513290NIPBLc.3127A>T (p.Ile1043Leu)
c.2383A>T (p.Ile795Leu)
c.3122-5190A>T (p.=)
c.2467A>T (p.Ile823Leu)
c.1510A>T (p.Ile504Leu)
c.1501A>T (p.Ile501Leu)
n.478A>T
n.2747A>T
c.1-68951A>T (p.=)
5g.36995628T>ACA359513292NIPBLc.3128T>A (p.Ile1043Lys)
c.2384T>A (p.Ile795Lys)
c.3122-5189T>A (p.=)
c.2468T>A (p.Ile823Lys)
c.1511T>A (p.Ile504Lys)
c.1502T>A (p.Ile501Lys)
n.479T>A
n.2748T>A
c.1-68950T>A (p.=)
5g.36995628T>CCA359513294NIPBLc.3128T>C (p.Ile1043Thr)
c.2384T>C (p.Ile795Thr)
c.3122-5189T>C (p.=)
c.2468T>C (p.Ile823Thr)
c.1511T>C (p.Ile504Thr)
c.1502T>C (p.Ile501Thr)
n.479T>C
n.2748T>C
c.1-68950T>C (p.=)
5g.36995628T>GCA359513296NIPBLc.3128T>G (p.Ile1043Arg)
c.2384T>G (p.Ile795Arg)
c.3122-5189T>G (p.=)
c.2468T>G (p.Ile823Arg)
c.1511T>G (p.Ile504Arg)
c.1502T>G (p.Ile501Arg)
n.479T>G
n.2748T>G
c.1-68950T>G (p.=)
5g.36995629A>CCA443903876NIPBLc.3129A>C (p.Ile1043=)
c.2385A>C (p.Ile795=)
c.3122-5188A>C (p.=)
c.2469A>C (p.Ile823=)
c.1512A>C (p.Ile504=)
c.1503A>C (p.Ile501=)
n.480A>C
n.2749A>C
c.1-68949A>C (p.=)
5g.36995629A>GCA359513298NIPBLc.3129A>G (p.Ile1043Met)
c.2385A>G (p.Ile795Met)
c.3122-5188A>G (p.=)
c.2469A>G (p.Ile823Met)
c.1512A>G (p.Ile504Met)
c.1503A>G (p.Ile501Met)
n.480A>G
n.2749A>G
c.1-68949A>G (p.=)
5g.36995629A>TCA443903877NIPBLc.3129A>T (p.Ile1043=)
c.2385A>T (p.Ile795=)
c.3122-5188A>T (p.=)
c.2469A>T (p.Ile823=)
c.1512A>T (p.Ile504=)
c.1503A>T (p.Ile501=)
n.480A>T
n.2749A>T
c.1-68949A>T (p.=)

Number of alleles fetched