Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.=)
5g.36995630G>ACA359513302NIPBLc.3130G>A (p.Asp1044Asn)
c.2386G>A (p.Asp796Asn)
c.3122-5187G>A (p.=)
c.2470G>A (p.Asp824Asn)
c.1513G>A (p.Asp505Asn)
c.1504G>A (p.Asp502Asn)
n.481G>A
n.2750G>A
c.1-68948G>A (p.=)
5g.36995630G>CCA359513304NIPBLc.3130G>C (p.Asp1044His)
c.2386G>C (p.Asp796His)
c.3122-5187G>C (p.=)
c.2470G>C (p.Asp824His)
c.1513G>C (p.Asp505His)
c.1504G>C (p.Asp502His)
n.481G>C
n.2750G>C
c.1-68948G>C (p.=)
5g.36995630G>TCA359513306NIPBLc.3130G>T (p.Asp1044Tyr)
c.2386G>T (p.Asp796Tyr)
c.3122-5187G>T (p.=)
c.2470G>T (p.Asp824Tyr)
c.1513G>T (p.Asp505Tyr)
c.1504G>T (p.Asp502Tyr)
n.481G>T
n.2750G>T
c.1-68948G>T (p.=)
COSMIC COSMIC
5g.36995631A>CCA117052721NIPBLc.3131A>C (p.Asp1044Ala)
c.2387A>C (p.Asp796Ala)
c.3122-5186A>C (p.=)
c.2471A>C (p.Asp824Ala)
c.1514A>C (p.Asp505Ala)
c.1505A>C (p.Asp502Ala)
n.482A>C
n.2751A>C
c.1-68947A>C (p.=)
dbSNP
5g.36995631A>GCA359513311NIPBLc.3131A>G (p.Asp1044Gly)
c.2387A>G (p.Asp796Gly)
c.3122-5186A>G (p.=)
c.2471A>G (p.Asp824Gly)
c.1514A>G (p.Asp505Gly)
c.1505A>G (p.Asp502Gly)
n.482A>G
n.2751A>G
c.1-68947A>G (p.=)
5g.36995631A>TCA359513313NIPBLc.3131A>T (p.Asp1044Val)
c.2387A>T (p.Asp796Val)
c.3122-5186A>T (p.=)
c.2471A>T (p.Asp824Val)
c.1514A>T (p.Asp505Val)
c.1505A>T (p.Asp502Val)
n.482A>T
n.2751A>T
c.1-68947A>T (p.=)
5g.36995632T>ACA359513317NIPBLc.3132T>A (p.Asp1044Glu)
c.2388T>A (p.Asp796Glu)
c.3122-5185T>A (p.=)
c.2472T>A (p.Asp824Glu)
c.1515T>A (p.Asp505Glu)
c.1506T>A (p.Asp502Glu)
n.483T>A
n.2752T>A
c.1-68946T>A (p.=)
5g.36995632T>CCA443903878NIPBLc.3132T>C (p.Asp1044=)
c.2388T>C (p.Asp796=)
c.3122-5185T>C (p.=)
c.2472T>C (p.Asp824=)
c.1515T>C (p.Asp505=)
c.1506T>C (p.Asp502=)
n.483T>C
n.2752T>C
c.1-68946T>C (p.=)
5g.36995632T>GCA359513319NIPBLc.3132T>G (p.Asp1044Glu)
c.2388T>G (p.Asp796Glu)
c.3122-5185T>G (p.=)
c.2472T>G (p.Asp824Glu)
c.1515T>G (p.Asp505Glu)
c.1506T>G (p.Asp502Glu)
n.483T>G
n.2752T>G
c.1-68946T>G (p.=)
5g.36995633C>ACA359513322NIPBLc.3133C>A (p.Gln1045Lys)
c.2389C>A (p.Gln797Lys)
c.3122-5184C>A (p.=)
c.2473C>A (p.Gln825Lys)
c.1516C>A (p.Gln506Lys)
c.1507C>A (p.Gln503Lys)
n.484C>A
n.2753C>A
c.1-68945C>A (p.=)
5g.36995633C>GCA359513324NIPBLc.3133C>G (p.Gln1045Glu)
c.2389C>G (p.Gln797Glu)
c.3122-5184C>G (p.=)
c.2473C>G (p.Gln825Glu)
c.1516C>G (p.Gln506Glu)
c.1507C>G (p.Gln503Glu)
n.484C>G
n.2753C>G
c.1-68945C>G (p.=)
COSMIC COSMIC
5g.36995633C>TCA359513326NIPBLc.3133C>T (p.Gln1045Ter)
c.2389C>T (p.Gln797Ter)
c.3122-5184C>T (p.=)
c.2473C>T (p.Gln825Ter)
c.1516C>T (p.Gln506Ter)
c.1507C>T (p.Gln503Ter)
n.484C>T
n.2753C>T
c.1-68945C>T (p.=)
COSMIC COSMIC
5g.36995634A>CCA359513329NIPBLc.3134A>C (p.Gln1045Pro)
c.2390A>C (p.Gln797Pro)
c.3122-5183A>C (p.=)
c.2474A>C (p.Gln825Pro)
c.1517A>C (p.Gln506Pro)
c.1508A>C (p.Gln503Pro)
n.485A>C
n.2754A>C
c.1-68944A>C (p.=)
5g.36995634A>GCA359513331NIPBLc.3134A>G (p.Gln1045Arg)
c.2390A>G (p.Gln797Arg)
c.3122-5183A>G (p.=)
c.2474A>G (p.Gln825Arg)
c.1517A>G (p.Gln506Arg)
c.1508A>G (p.Gln503Arg)
n.485A>G
n.2754A>G
c.1-68944A>G (p.=)
5g.36995634A>TCA359513333NIPBLc.3134A>T (p.Gln1045Leu)
c.2390A>T (p.Gln797Leu)
c.3122-5183A>T (p.=)
c.2474A>T (p.Gln825Leu)
c.1517A>T (p.Gln506Leu)
c.1508A>T (p.Gln503Leu)
n.485A>T
n.2754A>T
c.1-68944A>T (p.=)
5g.36995635A>CCA359513336NIPBLc.3135A>C (p.Gln1045His)
c.2391A>C (p.Gln797His)
c.3122-5182A>C (p.=)
c.2475A>C (p.Gln825His)
c.1518A>C (p.Gln506His)
c.1509A>C (p.Gln503His)
n.486A>C
n.2755A>C
c.1-68943A>C (p.=)
5g.36995635A>GCA443903879NIPBLc.3135A>G (p.Gln1045=)
c.2391A>G (p.Gln797=)
c.3122-5182A>G (p.=)
c.2475A>G (p.Gln825=)
c.1518A>G (p.Gln506=)
c.1509A>G (p.Gln503=)
n.486A>G
n.2755A>G
c.1-68943A>G (p.=)
5g.36995635A>TCA359513338NIPBLc.3135A>T (p.Gln1045His)
c.2391A>T (p.Gln797His)
c.3122-5182A>T (p.=)
c.2475A>T (p.Gln825His)
c.1518A>T (p.Gln506His)
c.1509A>T (p.Gln503His)
n.486A>T
n.2755A>T
c.1-68943A>T (p.=)
5g.36995636T>ACA359513341NIPBLc.3136T>A (p.Ser1046Thr)
c.2392T>A (p.Ser798Thr)
c.3122-5181T>A (p.=)
c.2476T>A (p.Ser826Thr)
c.1519T>A (p.Ser507Thr)
c.1510T>A (p.Ser504Thr)
n.487T>A
n.2756T>A
c.1-68942T>A (p.=)
5g.36995636T>CCA359513343NIPBLc.3136T>C (p.Ser1046Pro)
c.2392T>C (p.Ser798Pro)
c.3122-5181T>C (p.=)
c.2476T>C (p.Ser826Pro)
c.1519T>C (p.Ser507Pro)
c.1510T>C (p.Ser504Pro)
n.487T>C
n.2756T>C
c.1-68942T>C (p.=)

Number of alleles fetched