Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.36876622_36876635delinsTGCCGCGCGGCGCGCA1539536769NIPBL-DTn.60_73delinsCGCGCCGCGCGGCA
5g.36876627_36876639delCA1539536771NIPBL-DTn.60_72del
dbSNP
5g.36876628G>ACA559168585NIPBL-DTn.67C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.36876628G=CA1539536782NIPBL-DTn.67C=
5g.36876628G>TCA2673572736NIPBL-DTn.67C>A
gnomAD v4
5g.36876629C>ACA2673572737NIPBL-DTn.66G>T
gnomAD v4
5g.36876629C>TCA2673572738NIPBL-DTn.66G>A
gnomAD v4
5g.36876630G>ACA2673572739NIPBL-DTn.65C>T
gnomAD v4
5g.36876630G>CCA810266583NIPBL-DTn.65C>G
dbSNP
5g.36876630G=CA1539536784NIPBL-DTn.65C=
5g.36876630G>TCA2673572740NIPBL-DTn.65C>A
gnomAD v4
5g.36876631G>ACA2673572741NIPBL-DTn.64C>T
gnomAD v4
5g.36876632C>ACA2673572742NIPBL-DTn.63G>T
gnomAD v4
5g.36876632C=CA1539536787NIPBL-DTn.63G=
5g.36876632C>TCA117447383NIPBL-DTn.63G>A
dbSNP gnomAD v3 gnomAD v4
5g.36876633G>ACA2673572743NIPBL-DTn.62C>T
gnomAD v4
5g.36876634C>ACA117447384NIPBL-DTn.61G>T
dbSNP gnomAD v3 gnomAD v4
5g.36876634C=CA1539536790NIPBL-DTn.61G=
5g.36876634C>TCA1539536793NIPBL-DTn.61G>A
dbSNP gnomAD v4
5g.36876635G>TCA2673572744NIPBL-DTn.60C>A
gnomAD v4
5g.36876636G>ACA2673572746NIPBL-DTn.59C>T
gnomAD v4
5g.36876636G>TCA2673572745NIPBL-DTn.59C>A
gnomAD v4
5g.36876637C>TCA2673572747NIPBL-DTn.58G>A
gnomAD v4
5g.36876638C>ACA2673572748NIPBL-DTn.57G>T
gnomAD v4
5g.36876638C>GCA2673572749NIPBL-DTn.57G>C
gnomAD v4
5g.36876639G>ACA117447385NIPBL-DTn.56C>T
dbSNP gnomAD v3 gnomAD v4
5g.36876639G>CCA1539536799NIPBL-DTn.56C>G
dbSNP
5g.36876639G=CA1539536796NIPBL-DTn.56C=
5g.36876640A>GCA2673572750NIPBL-DTn.55T>C
gnomAD v4
5g.36876640A>TCA2765908565NIPBL-DTn.55T>A
5g.36876641G>ACA2673572751NIPBL-DTn.54C>T
gnomAD v4
5g.36876641G>TCA2673572752NIPBL-DTn.54C>A
gnomAD v4
5g.36876642G>ACA2673572753NIPBL-DTn.53C>T
gnomAD v4
5g.36876642G>TCA2673572754NIPBL-DTn.53C>A
gnomAD v4
5g.36876643A>CCA2673572755NIPBL-DTn.52T>G
gnomAD v4
5g.36876643A>TCA2673572756NIPBL-DTn.52T>A
gnomAD v4
5g.36876644C>ACA2673572757NIPBL-DTn.51G>T
gnomAD v4
5g.36876644C>TCA2673572758NIPBL-DTn.51G>A
gnomAD v4
5g.36876645G>ACA2673572759NIPBL-DTn.50C>T
gnomAD v4
5g.36876645G>TCA2673572760NIPBL-DTn.50C>A
gnomAD v4
5g.36876646C>ACA2673572761NIPBL-DTn.49G>T
gnomAD v4
5g.36876646C=CA1539536802NIPBL-DTn.49G=
5g.36876646C>GCA2673572762NIPBL-DTn.49G>C
gnomAD v4
5g.36876646C>TCA810266585NIPBL-DTn.49G>A
dbSNP gnomAD v4
5g.36876647G>ACA1539536805NIPBL-DTn.48C>T
dbSNP gnomAD v4
5g.36876647G>CCA1075102187NIPBL-DTn.48C>G
dbSNP gnomAD v3 gnomAD v4
5g.36876647G=CA1539536804NIPBL-DTn.48C=
5g.36876647G>TCA2673572763NIPBL-DTn.48C>A
gnomAD v4
5g.36876648A=CA1539536807NIPBL-DTn.47T=
5g.36876648A>CCA1539536809NIPBL-DTn.47T>G
dbSNP
5g.36876649G>ACA2673572764NIPBL-DTn.46C>T
gnomAD v4
5g.36876649G>TCA2673572765NIPBL-DTn.46C>A
gnomAD v4
5g.36876650C>ACA2673572766NIPBL-DTn.45G>T
gnomAD v4
5g.36876650C>TCA2673572767NIPBL-DTn.45G>A
gnomAD v4
5g.36876651C>ACA2673572768NIPBL-DTn.44G>T
gnomAD v4
5g.36876651C=CA1539536811NIPBL-DTn.44G=
5g.36876651C>TCA1075102192NIPBL-DTn.44G>A
dbSNP gnomAD v3 gnomAD v4
5g.36876652C>ACA2673572769NIPBL-DTn.43G>T
gnomAD v4
5g.36876652C=CA1539536813NIPBL-DTn.43G=
5g.36876652C>TCA1075102196NIPBL-DTn.43G>A
dbSNP gnomAD v3 gnomAD v4
5g.36876653A=CA1539536817NIPBL-DTn.42T=
5g.36876653A>CCA2673572770NIPBL-DTn.42T>G
gnomAD v4
5g.36876653A>GCA2673572771NIPBL-DTn.42T>C
gnomAD v4
5g.36876653A>TCA2673572772NIPBL-DTn.42T>A
gnomAD v4
5g.36876654A>CCA2673572774NIPBL-DTn.41T>G
gnomAD v4
5g.36876654A>GCA2673572773NIPBL-DTn.41T>C
gnomAD v4
5g.36876656_36876664dupCA1539536819NIPBL-DTn.33_41dup
dbSNP gnomAD v4
5g.36876655G>CCA117447386NIPBL-DTn.40C>G
dbSNP gnomAD v4
5g.36876655G=CA1539536825NIPBL-DTn.40C=
5g.36876655G>TCA2673572775NIPBL-DTn.40C>A
gnomAD v4
5g.36876656T>ACA810266587NIPBL-DTn.39A>T
dbSNP gnomAD v4
5g.36876656T>CCA2673572776NIPBL-DTn.39A>G
gnomAD v4
5g.36876656T>GCA2673572777NIPBL-DTn.39A>C
gnomAD v4
5g.36876656T=CA1539536827NIPBL-DTn.39A=
5g.36876657G>ACA2595469152NIPBL-DTn.38C>T
gnomAD v3 gnomAD v4
5g.36876657G>TCA2673572778NIPBL-DTn.38C>A
gnomAD v4
5g.36876663_36876671delCA2595469151NIPBL-DTn.30_38del
gnomAD v3 gnomAD v4
5g.36876658G>ACA2673572779NIPBL-DTn.37C>T
gnomAD v4
5g.36876658G>CCA2673572780NIPBL-DTn.37C>G
gnomAD v4
5g.36876658G>TCA2673572781NIPBL-DTn.37C>A
gnomAD v4
5g.36876659C>ACA2673572782NIPBL-DTn.36G>T
gnomAD v4
5g.36876659C>GCA2673572783NIPBL-DTn.36G>C
gnomAD v4
5g.36876659C>TCA2673572784NIPBL-DTn.36G>A
gnomAD v4
5g.36876660G>ACA117447387NIPBL-DTn.35C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.36876660G=CA1539536839NIPBL-DTn.35C=
5g.36876660G>TCA810266590NIPBL-DTn.35C>A
dbSNP gnomAD v4
5g.36876661G>ACA2673572785NIPBL-DTn.34C>T
dbSNP gnomAD v4
5g.36876661G>TCA2673572786NIPBL-DTn.34C>A
gnomAD v4
5g.36876662C>ACA2673572787NIPBL-DTn.33G>T
gnomAD v4
5g.36876662C=CA1539536840NIPBL-DTn.33G=
5g.36876662C>GCA117447388NIPBL-DTn.33G>C
dbSNP gnomAD v4
5g.36876662C>TCA559168586NIPBL-DTn.33G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.36876663A=CA1539536845NIPBL-DTn.32T=
5g.36876663A>GCA2673572788NIPBL-DTn.32T>C
gnomAD v4
5g.36876663A>TCA1539536843NIPBL-DTn.32T>A
dbSNP
5g.36876663_36876672delinsAGCGGCGGCTCA1539536841NIPBL-DTn.23_32delinsAGCCGCCGCT
5g.36876664G>ACA2673572789NIPBL-DTn.31C>T
gnomAD v4
5g.36876671_36876679dupCA117447389NIPBL-DTn.23_31dup
dbSNP gnomAD v3 gnomAD v4
5g.36876671_36876679delCA117447390NIPBL-DTn.23_31del
dbSNP gnomAD v3 gnomAD v4
5g.36876665C>ACA2673572790NIPBL-DTn.30G>T
gnomAD v4
5g.36876665C=CA1539536855NIPBL-DTn.30G=
5g.36876665C>TCA2673572791NIPBL-DTn.30G>A
gnomAD v4
5g.36876666G>ACA2673572792NIPBL-DTn.29C>T
gnomAD v4
5g.36876666G=CA1539536859NIPBL-DTn.29C=
5g.36876666G>TCA1539536860NIPBL-DTn.29C>A
dbSNP gnomAD v4
5g.36876671_36876685dupCA1539536858NIPBL-DTn.15_29dup
dbSNP gnomAD v4
5g.36876667G>ACA117447391NIPBL-DTn.28C>T
dbSNP gnomAD v3 gnomAD v4
5g.36876667G=CA1539536861NIPBL-DTn.28C=
5g.36876667G>TCA2673572793NIPBL-DTn.28C>A
gnomAD v4
5g.36876668C>ACA2673572794NIPBL-DTn.27G>T
gnomAD v4
5g.36876668C=CA1539536864NIPBL-DTn.27G=
5g.36876668C>TCA810266594NIPBL-DTn.27G>A
dbSNP gnomAD v3 gnomAD v4
5g.36876669G>ACA1539536870NIPBL-DTn.26C>T
dbSNP gnomAD v4
5g.36876669G=CA1539536867NIPBL-DTn.26C=
5g.36876669G>TCA2673572796NIPBL-DTn.26C>A
gnomAD v4
5g.36876672_36876683dupCA2673572795NIPBL-DTn.15_26dup
gnomAD v4
5g.36876670G>ACA2673572797NIPBL-DTn.25C>T
gnomAD v4
5g.36876670G>TCA2673572798NIPBL-DTn.25C>A
gnomAD v4
5g.36876670_36876671delinsGCCA1539536871NIPBL-DTn.24_25delinsGC
5g.36876671delCA1539536874NIPBL-DTn.24del
dbSNP
5g.36876671C>ACA2673572799NIPBL-DTn.24G>T
gnomAD v4
5g.36876671C>TCA2673572800NIPBL-DTn.24G>A
gnomAD v4
5g.36876672T>ACA1075102206NIPBL-DTn.23A>T
dbSNP gnomAD v3 gnomAD v4
5g.36876672T>CCA2673572802NIPBL-DTn.23A>G
gnomAD v4
5g.36876672T>GCA2673572803NIPBL-DTn.23A>C
gnomAD v4
5g.36876672T=CA1539536875NIPBL-DTn.23A=
5g.36876672_36876680delCA2673572801NIPBL-DTn.15_23del
gnomAD v4
5g.36876673G>ACA1539536878NIPBL-DTn.22C>T
dbSNP gnomAD v4
5g.36876673G=CA1539536877NIPBL-DTn.22C=
5g.36876674delCA2673572805NIPBL-DTn.21del
gnomAD v4
5g.36876674C>ACA2673572804NIPBL-DTn.21G>T
gnomAD v4
5g.36876674C>TCA2673572806NIPBL-DTn.21G>A
gnomAD v4
5g.36876675G>ACA915116107NIPBL-DTn.20C>T
gnomAD v2 gnomAD v4
5g.36876675G>TCA2673572807NIPBL-DTn.20C>A
gnomAD v4
5g.36876676G>ACA2673572808NIPBL-DTn.19C>T
gnomAD v4
5g.36876676G>TCA2673572809NIPBL-DTn.19C>A
gnomAD v4
5g.36876677C>TCA2673572810NIPBL-DTn.18G>A
gnomAD v4
5g.36876678G>ACA117447392NIPBL-DTn.17C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.36876678G=CA1539536881NIPBL-DTn.17C=
5g.36876678G>TCA2673572811NIPBL-DTn.17C>A
gnomAD v4
5g.36876680_36876724delCA2765908566
5g.36876679G>ACA1539536884NIPBL-DTn.16C>T
dbSNP gnomAD v4
5g.36876679G=CA1539536883NIPBL-DTn.16C=
5g.36876679G>TCA2673572812NIPBL-DTn.16C>A
gnomAD v4
5g.36876680T>ACA2673572813NIPBL-DTn.15A>T
gnomAD v4
5g.36876680T>CCA2673572814NIPBL-DTn.15A>G
gnomAD v4
5g.36876680T>GCA2673572815NIPBL-DTn.15A>C
gnomAD v4
5g.36876681G>ACA1075102209NIPBL-DTn.14C>T
dbSNP gnomAD v3 gnomAD v4
5g.36876681G=CA1539536889NIPBL-DTn.14C=
5g.36876681G>TCA117447393NIPBL-DTn.14C>A
dbSNP gnomAD v3 gnomAD v4
5g.36876682G>ACA2673572816NIPBL-DTn.13C>T
gnomAD v4
5g.36876682G>TCA2673572817NIPBL-DTn.13C>A
gnomAD v4
5g.36876683C>GCA2673572818NIPBL-DTn.12G>C
gnomAD v4
5g.36876683C>TCA2673572819NIPBL-DTn.12G>A
gnomAD v4
5g.36876684G>ACA2673572820NIPBL-DTn.11C>T
gnomAD v4
5g.36876684G>CCA2673572821NIPBL-DTn.11C>G
gnomAD v4
5g.36876684G>TCA2673572822NIPBL-DTn.11C>A
gnomAD v4
5g.36876685G>ACA2673572823NIPBL-DTn.10C>T
gnomAD v4
5g.36876685G>TCA2673572824NIPBL-DTn.10C>A
gnomAD v4
5g.36876686A=CA1539536892NIPBL-DTn.9T=
5g.36876686A>GCA117447394NIPBL-DTn.9T>C
dbSNP gnomAD v4
5g.36876687A>CCA2527807496NIPBL-DTn.8T>G
gnomAD v4
5g.36876687A>GCA2673572825NIPBL-DTn.8T>C
gnomAD v4
5g.36876688G>ACA810266601NIPBL-DTn.7C>T
dbSNP gnomAD v4
5g.36876688G=CA1539536895NIPBL-DTn.7C=
5g.36876688G>TCA2673572826NIPBL-DTn.7C>A
gnomAD v4
5g.36876689T>GCA2765908567NIPBL-DTn.6A>C
5g.36876690G>ACA1539536903NIPBL-DTn.5C>T
dbSNP
5g.36876690G=CA1539536901NIPBL-DTn.5C=
5g.36876690G>TCA2673572827NIPBL-DTn.5C>A
gnomAD v4
5g.36876691G>ACA1539536914NIPBL-DTn.4C>T
dbSNP
5g.36876691G>CCA2673572828NIPBL-DTn.4C>G
gnomAD v4
5g.36876691G=CA1539536909NIPBL-DTn.4C=
5g.36876691G>TCA810266605NIPBL-DTn.4C>A
dbSNP gnomAD v3 gnomAD v4
5g.36876692A>CCA2673572829NIPBL-DTn.3T>G
gnomAD v4
5g.36876692A>GCA2673572830NIPBL-DTn.3T>C
gnomAD v4
5g.36876692A>TCA2765908568NIPBL-DTn.3T>A
5g.36876693G>TCA2673572831NIPBL-DTn.2C>A
gnomAD v4
5g.36876694T>CCA2673572832NIPBL-DTn.1A>G
gnomAD v4
5g.36876694T>GCA2673572833NIPBL-DTn.1A>C
gnomAD v4
5g.36876695G>ACA117447395 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.36876695G>CCA1539536921 dbSNP
5g.36876695G=CA1539536920
5g.36876695G>TCA2673572834 gnomAD v4
5g.36876698delCA2673572835 gnomAD v4
5g.36876696G>ACA559168587 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.36876696G=CA1539536928
5g.36876696G>TCA2673572836 gnomAD v4
5g.36876697G>ACA117447396 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.36876697G>CCA2673572837 gnomAD v4
5g.36876697G=CA1539536935
5g.36876697G>TCA2673572838 gnomAD v4
5g.36876698G>ACA117447397 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.36876698G>CCA117447398 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.36876698G=CA1539536940
5g.36876698G>TCA2673572839 gnomAD v4
5g.36876699A=CA1539536947
5g.36876699A>CCA2673572840 dbSNP gnomAD v4
5g.36876699A>GCA117447399 dbSNP gnomAD v4
5g.36876699A>TCA2673572841 gnomAD v4
5g.36876700A>CCA2673572842 gnomAD v4
5g.36876700A>GCA2673572843 gnomAD v4
5g.36876702_36876703delCA2554409996
5g.36876701G>ACA1539536958 dbSNP
5g.36876701G=CA1539536954
5g.36876701G>TCA810266612 dbSNP gnomAD v3 gnomAD v4
5g.36876702A>GCA2673572844 gnomAD v4
5g.36876703G>ACA117447400 dbSNP gnomAD v3 gnomAD v4
5g.36876703G>CCA2673572846 gnomAD v4
5g.36876703G=CA1539536964
5g.36876703G>TCA2673572847 gnomAD v4
5g.36876707delCA2673572845 gnomAD v4
5g.36876704G>ACA117447401 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.36876704G>CCA117447402 dbSNP gnomAD v3 gnomAD v4
5g.36876704G=CA1539536970
5g.36876704G>TCA2673572848 gnomAD v4
5g.36876705G>ACA117447403 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.36876705G>CCA117447404 dbSNP gnomAD v3 gnomAD v4
5g.36876705G=CA1539536975
5g.36876705G>TCA810266615 dbSNP gnomAD v4
5g.36876706G>ACA1539536982 dbSNP gnomAD v4
5g.36876706G>CCA810266618 dbSNP
5g.36876706G=CA1539536981
5g.36876706G>TCA2673572849 gnomAD v4
5g.36876707G>ACA810266621 dbSNP gnomAD v3 gnomAD v4
5g.36876707G>CCA1539536987 dbSNP gnomAD v3 gnomAD v4
5g.36876707G=CA1539536988
5g.36876707G>TCA810266623 dbSNP gnomAD v3 gnomAD v4
5g.36876708T>CCA2673572850 gnomAD v4
5g.36876708T>GCA1075102226 gnomAD v3 gnomAD v4
5g.36876709G>ACA2673572851 gnomAD v4
5g.36876709G>TCA2673572852 gnomAD v4
5g.36876710G>TCA2673572853 gnomAD v4
5g.36876711T>CCA117447405 dbSNP gnomAD v3 gnomAD v4
5g.36876711T>GCA810266625 dbSNP gnomAD v4
5g.36876711T=CA1539536993
5g.36876712T>ACA1539537001 dbSNP
5g.36876712T>GCA1075102229 dbSNP gnomAD v3 gnomAD v4
5g.36876712T=CA1539537000
5g.36876713G>ACA2673572854 gnomAD v4
5g.36876714T>CCA2673572855 gnomAD v4
5g.36876714T>GCA2673572856 gnomAD v4
5g.36876715T>CCA117447406 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.36876715T>GCA2673572857 gnomAD v4
5g.36876715T=CA1539537005
5g.36876716A=CA1539537007
5g.36876716A>CCA2673572858 gnomAD v4
5g.36876716A>GCA117447407 dbSNP gnomAD v4
5g.36876717G>ACA1539537012 dbSNP gnomAD v4
5g.36876717G=CA1539537011
5g.36876717G>TCA2673572859 gnomAD v4
5g.36876717_36876718delinsGTCA1539537009
5g.36876718delCA559168588 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.36876718T>ACA810266630 dbSNP gnomAD v4
5g.36876718T>CCA2673572860 gnomAD v4
5g.36876718T>GCA2673572861 gnomAD v4
5g.36876718T=CA1539537019
5g.36876719G>ACA2673572862 gnomAD v4
5g.36876719G>CCA2673572863 gnomAD v4
5g.36876719G=CA1539537021
5g.36876719G>TCA1539537023 dbSNP
5g.36876720T>CCA2765908570
5g.36876720T>GCA1539537027 dbSNP gnomAD v4
5g.36876720T=CA1539537029
5g.36876722delCA2765908569
5g.36876721T>CCA2673572865 gnomAD v4
5g.36876721T>GCA2673572864 gnomAD v4
5g.36876722T>CCA117447408 dbSNP
5g.36876722T=CA1539537030
5g.36876723G>ACA2673572866 gnomAD v4
5g.36876723G>CCA1539537032 dbSNP gnomAD v4
5g.36876723G=CA1539537031
5g.36876724G>ACA2673572867 gnomAD v4
5g.36876724G>CCA2765908571
5g.36876724G>TCA2673572868 gnomAD v4
5g.36876725C>ACA2673572869 gnomAD v4
5g.36876725C>GCA2673572870 gnomAD v4
5g.36876725C>TCA2673572871 gnomAD v4
5g.36876726G>ACA2673572872 gnomAD v4
5g.36876726G>TCA2673572873 gnomAD v4
5g.36876727C>ACA2673572874 gnomAD v4
5g.36876727C>GCA2673572875 gnomAD v4
5g.36876727C>TCA2673572876 gnomAD v4
5g.36876728C>ACA2673572877 gnomAD v4
5g.36876728C=CA1539537033
5g.36876728C>GCA1075102234 dbSNP gnomAD v3 gnomAD v4
5g.36876728C>TCA1075102235 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched