Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37051772T>CCA559022304NIPBLc.6955-7T>C (n.6955-7T>C)
n.830T>C
c.1-12806T>C (n.1-12806T>C)
c.6211-7T>C (n.6211-7T>C)
c.6757-7T>C (n.6757-7T>C)
c.6574-7T>C (n.6574-7T>C)
c.6295-7T>C (n.6295-7T>C)
c.5338-7T>C (n.5338-7T>C)
c.5329-7T>C (n.5329-7T>C)
 dbSNP gnomAD v2 gnomAD v4
5g.37051772T=CA1539571295NIPBLc.6955-7T= (n.6955-7T=)
n.830T=
c.1-12806T= (n.1-12806T=)
c.6211-7T= (n.6211-7T=)
c.6757-7T= (n.6757-7T=)
c.6574-7T= (n.6574-7T=)
c.6295-7T= (n.6295-7T=)
c.5338-7T= (n.5338-7T=)
c.5329-7T= (n.5329-7T=)
5g.37051774T>ACA2578289778NIPBLc.6955-5T>A (n.6955-5T>A)
n.832T>A
c.1-12804T>A (n.1-12804T>A)
c.6211-5T>A (n.6211-5T>A)
c.6757-5T>A (n.6757-5T>A)
c.6574-5T>A (n.6574-5T>A)
c.6295-5T>A (n.6295-5T>A)
c.5338-5T>A (n.5338-5T>A)
c.5329-5T>A (n.5329-5T>A)
5g.37051774T>CCA3237107NIPBLc.6955-5T>C (n.6955-5T>C)
n.832T>C
c.1-12804T>C (n.1-12804T>C)
c.6211-5T>C (n.6211-5T>C)
c.6757-5T>C (n.6757-5T>C)
c.6574-5T>C (n.6574-5T>C)
c.6295-5T>C (n.6295-5T>C)
c.5338-5T>C (n.5338-5T>C)
c.5329-5T>C (n.5329-5T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37051774T=CA1539571298NIPBLc.6955-5T= (n.6955-5T=)
n.832T=
c.1-12804T= (n.1-12804T=)
c.6211-5T= (n.6211-5T=)
c.6757-5T= (n.6757-5T=)
c.6574-5T= (n.6574-5T=)
c.6295-5T= (n.6295-5T=)
c.5338-5T= (n.5338-5T=)
c.5329-5T= (n.5329-5T=)
5g.37051775C>ACA2673575637NIPBLc.6955-4C>A (n.6955-4C>A)
n.833C>A
c.1-12803C>A (n.1-12803C>A)
c.6211-4C>A (n.6211-4C>A)
c.6757-4C>A (n.6757-4C>A)
c.6574-4C>A (n.6574-4C>A)
c.6295-4C>A (n.6295-4C>A)
c.5338-4C>A (n.5338-4C>A)
c.5329-4C>A (n.5329-4C>A)
 gnomAD v4
5g.37051775C>TCA645548416NIPBLc.6955-4C>T (n.6955-4C>T)
n.833C>T
c.1-12803C>T (n.1-12803C>T)
c.6211-4C>T (n.6211-4C>T)
c.6757-4C>T (n.6757-4C>T)
c.6574-4C>T (n.6574-4C>T)
c.6295-4C>T (n.6295-4C>T)
c.5338-4C>T (n.5338-4C>T)
c.5329-4C>T (n.5329-4C>T)
 gnomAD v4 COSMIC COSMIC
5g.37051776delCA2673575636NIPBLc.6955-3del (n.6955-3del)
n.834del
c.1-12802del (n.1-12802del)
c.6211-3del (n.6211-3del)
c.6757-3del (n.6757-3del)
c.6574-3del (n.6574-3del)
c.6295-3del (n.6295-3del)
c.5338-3del (n.5338-3del)
c.5329-3del (n.5329-3del)
 gnomAD v4
5g.37051775_37051778delCA2673575638NIPBLc.6955-4_6955-1del (n.6955-4_6955-1del)
n.833_836del
c.1-12803_1-12800del (n.1-12803_1-12800del)
c.6211-4_6211-1del (n.6211-4_6211-1del)
c.6757-4_6757-1del (n.6757-4_6757-1del)
c.6574-4_6574-1del (n.6574-4_6574-1del)
c.6295-4_6295-1del (n.6295-4_6295-1del)
c.5338-4_5338-1del (n.5338-4_5338-1del)
c.5329-4_5329-1del (n.5329-4_5329-1del)
 gnomAD v4
5g.37051775_37051787delCA1075099023NIPBLc.6955-4_6963del
n.833_845del
c.1-12803_1-12791del (n.1-12803_1-12791del)
c.6211-4_6219del
c.6757-4_6765del
c.6574-4_6582del
c.6295-4_6303del
c.5338-4_5346del
c.5329-4_5337del
 gnomAD v3 gnomAD v4
5g.37051775_37051789delCA2765899842NIPBLc.6955-4_6965del
n.833_847del
c.1-12803_1-12789del (n.1-12803_1-12789del)
c.6211-4_6221del
c.6757-4_6767del
c.6574-4_6584del
c.6295-4_6305del
c.5338-4_5348del
c.5329-4_5339del
5g.37051776C>ACA2673575639NIPBLc.6955-3C>A (n.6955-3C>A)
n.834C>A
c.1-12802C>A (n.1-12802C>A)
c.6211-3C>A (n.6211-3C>A)
c.6757-3C>A (n.6757-3C>A)
c.6574-3C>A (n.6574-3C>A)
c.6295-3C>A (n.6295-3C>A)
c.5338-3C>A (n.5338-3C>A)
c.5329-3C>A (n.5329-3C>A)
 gnomAD v4
5g.37051776C>TCA1075099028NIPBLc.6955-3C>T (n.6955-3C>T)
n.834C>T
c.1-12802C>T (n.1-12802C>T)
c.6211-3C>T (n.6211-3C>T)
c.6757-3C>T (n.6757-3C>T)
c.6574-3C>T (n.6574-3C>T)
c.6295-3C>T (n.6295-3C>T)
c.5338-3C>T (n.5338-3C>T)
c.5329-3C>T (n.5329-3C>T)
 gnomAD v3 gnomAD v4
5g.37051777A>CCA359509390NIPBLc.6955-2A>C (n.6955-2A>C)
n.835A>C
c.1-12801A>C (n.1-12801A>C)
c.6211-2A>C (n.6211-2A>C)
c.6757-2A>C (n.6757-2A>C)
c.6574-2A>C (n.6574-2A>C)
c.6295-2A>C (n.6295-2A>C)
c.5338-2A>C (n.5338-2A>C)
c.5329-2A>C (n.5329-2A>C)
 ClinVar dbSNP
5g.37051777A>GCA359509394NIPBLc.6955-2A>G (n.6955-2A>G)
n.835A>G
c.1-12801A>G (n.1-12801A>G)
c.6211-2A>G (n.6211-2A>G)
c.6757-2A>G (n.6757-2A>G)
c.6574-2A>G (n.6574-2A>G)
c.6295-2A>G (n.6295-2A>G)
c.5338-2A>G (n.5338-2A>G)
c.5329-2A>G (n.5329-2A>G)
 gnomAD v4
5g.37051777A>TCA359509398NIPBLc.6955-2A>T (n.6955-2A>T)
n.835A>T
c.1-12801A>T (n.1-12801A>T)
c.6211-2A>T (n.6211-2A>T)
c.6757-2A>T (n.6757-2A>T)
c.6574-2A>T (n.6574-2A>T)
c.6295-2A>T (n.6295-2A>T)
c.5338-2A>T (n.5338-2A>T)
c.5329-2A>T (n.5329-2A>T)
5g.37051778G>ACA359509401NIPBLc.6955-1G>A (n.6955-1G>A)
n.836G>A
c.1-12800G>A (n.1-12800G>A)
c.6211-1G>A (n.6211-1G>A)
c.6757-1G>A (n.6757-1G>A)
c.6574-1G>A (n.6574-1G>A)
c.6295-1G>A (n.6295-1G>A)
c.5338-1G>A (n.5338-1G>A)
c.5329-1G>A (n.5329-1G>A)
5g.37051778G>CCA359509403NIPBLc.6955-1G>C (n.6955-1G>C)
n.836G>C
c.1-12800G>C (n.1-12800G>C)
c.6211-1G>C (n.6211-1G>C)
c.6757-1G>C (n.6757-1G>C)
c.6574-1G>C (n.6574-1G>C)
c.6295-1G>C (n.6295-1G>C)
c.5338-1G>C (n.5338-1G>C)
c.5329-1G>C (n.5329-1G>C)
5g.37051778G>TCA359509406NIPBLc.6955-1G>T (n.6955-1G>T)
n.836G>T
c.1-12800G>T (n.1-12800G>T)
c.6211-1G>T (n.6211-1G>T)
c.6757-1G>T (n.6757-1G>T)
c.6574-1G>T (n.6574-1G>T)
c.6295-1G>T (n.6295-1G>T)
c.5338-1G>T (n.5338-1G>T)
c.5329-1G>T (n.5329-1G>T)
 gnomAD v4
5g.37051779T>ACA359509409NIPBLc.6955T>A (p.Cys2319Ser)
n.837T>A
c.1-12799T>A (n.1-12799T>A)
c.6211T>A (p.Cys2071Ser)
c.6757T>A (p.Cys2253Ser)
c.6574T>A (p.Cys2192Ser)
c.6295T>A (p.Cys2099Ser)
c.5338T>A (p.Cys1780Ser)
c.5329T>A (p.Cys1777Ser)
5g.37051779T>CCA359509411NIPBLc.6955T>C (p.Cys2319Arg)
n.837T>C
c.1-12799T>C (n.1-12799T>C)
c.6211T>C (p.Cys2071Arg)
c.6757T>C (p.Cys2253Arg)
c.6574T>C (p.Cys2192Arg)
c.6295T>C (p.Cys2099Arg)
c.5338T>C (p.Cys1780Arg)
c.5329T>C (p.Cys1777Arg)
5g.37051779T>GCA359509414NIPBLc.6955T>G (p.Cys2319Gly)
n.837T>G
c.1-12799T>G (n.1-12799T>G)
c.6211T>G (p.Cys2071Gly)
c.6757T>G (p.Cys2253Gly)
c.6574T>G (p.Cys2192Gly)
c.6295T>G (p.Cys2099Gly)
c.5338T>G (p.Cys1780Gly)
c.5329T>G (p.Cys1777Gly)
5g.37051780G>ACA359509426NIPBLc.6956G>A (p.Cys2319Tyr)
n.838G>A
c.1-12798G>A (n.1-12798G>A)
c.6212G>A (p.Cys2071Tyr)
c.6758G>A (p.Cys2253Tyr)
c.6575G>A (p.Cys2192Tyr)
c.6296G>A (p.Cys2099Tyr)
c.5339G>A (p.Cys1780Tyr)
c.5330G>A (p.Cys1777Tyr)
 COSMIC COSMIC
5g.37051780G>CCA359509429NIPBLc.6956G>C (p.Cys2319Ser)
n.838G>C
c.1-12798G>C (n.1-12798G>C)
c.6212G>C (p.Cys2071Ser)
c.6758G>C (p.Cys2253Ser)
c.6575G>C (p.Cys2192Ser)
c.6296G>C (p.Cys2099Ser)
c.5339G>C (p.Cys1780Ser)
c.5330G>C (p.Cys1777Ser)
5g.37051780G>TCA359509431NIPBLc.6956G>T (p.Cys2319Phe)
n.838G>T
c.1-12798G>T (n.1-12798G>T)
c.6212G>T (p.Cys2071Phe)
c.6758G>T (p.Cys2253Phe)
c.6575G>T (p.Cys2192Phe)
c.6296G>T (p.Cys2099Phe)
c.5339G>T (p.Cys1780Phe)
c.5330G>T (p.Cys1777Phe)
5g.37051781T>ACA359509438NIPBLc.6957T>A (p.Cys2319Ter)
n.839T>A
c.1-12797T>A (n.1-12797T>A)
c.6213T>A (p.Cys2071Ter)
c.6759T>A (p.Cys2253Ter)
c.6576T>A (p.Cys2192Ter)
c.6297T>A (p.Cys2099Ter)
c.5340T>A (p.Cys1780Ter)
c.5331T>A (p.Cys1777Ter)
5g.37051781T>CCA443909346NIPBLc.6957T>C (p.Cys2319=)
n.839T>C
c.1-12797T>C (n.1-12797T>C)
c.6213T>C (p.Cys2071=)
c.6759T>C (p.Cys2253=)
c.6576T>C (p.Cys2192=)
c.6297T>C (p.Cys2099=)
c.5340T>C (p.Cys1780=)
c.5331T>C (p.Cys1777=)
5g.37051781T>GCA359509435NIPBLc.6957T>G (p.Cys2319Trp)
n.839T>G
c.1-12797T>G (n.1-12797T>G)
c.6213T>G (p.Cys2071Trp)
c.6759T>G (p.Cys2253Trp)
c.6576T>G (p.Cys2192Trp)
c.6297T>G (p.Cys2099Trp)
c.5340T>G (p.Cys1780Trp)
c.5331T>G (p.Cys1777Trp)
5g.37051782G>ACA359509443NIPBLc.6958G>A (p.Val2320Met)
n.840G>A
c.1-12796G>A (n.1-12796G>A)
c.6214G>A (p.Val2072Met)
c.6760G>A (p.Val2254Met)
c.6577G>A (p.Val2193Met)
c.6298G>A (p.Val2100Met)
c.5341G>A (p.Val1781Met)
c.5332G>A (p.Val1778Met)
5g.37051782G>CCA359509445NIPBLc.6958G>C (p.Val2320Leu)
n.840G>C
c.1-12796G>C (n.1-12796G>C)
c.6214G>C (p.Val2072Leu)
c.6760G>C (p.Val2254Leu)
c.6577G>C (p.Val2193Leu)
c.6298G>C (p.Val2100Leu)
c.5341G>C (p.Val1781Leu)
c.5332G>C (p.Val1778Leu)
5g.37051782G>TCA359509449NIPBLc.6958G>T (p.Val2320Leu)
n.840G>T
c.1-12796G>T (n.1-12796G>T)
c.6214G>T (p.Val2072Leu)
c.6760G>T (p.Val2254Leu)
c.6577G>T (p.Val2193Leu)
c.6298G>T (p.Val2100Leu)
c.5341G>T (p.Val1781Leu)
c.5332G>T (p.Val1778Leu)
5g.37051782_37051787delCA2765899850NIPBLc.6958_6963del (p.Val2320_Pro2321del)
n.840_845del
c.1-12796_1-12791del (n.1-12796_1-12791del)
c.6214_6219del (p.Val2072_Pro2073del)
c.6760_6765del (p.Val2254_Pro2255del)
c.6577_6582del (p.Val2193_Pro2194del)
c.6298_6303del (p.Val2100_Pro2101del)
c.5341_5346del (p.Val1781_Pro1782del)
c.5332_5337del (p.Val1778_Pro1779del)
5g.37051783T>ACA359509453NIPBLc.6959T>A (p.Val2320Glu)
n.841T>A
c.1-12795T>A (n.1-12795T>A)
c.6215T>A (p.Val2072Glu)
c.6761T>A (p.Val2254Glu)
c.6578T>A (p.Val2193Glu)
c.6299T>A (p.Val2100Glu)
c.5342T>A (p.Val1781Glu)
c.5333T>A (p.Val1778Glu)
5g.37051783T>CCA359509454NIPBLc.6959T>C (p.Val2320Ala)
n.841T>C
c.1-12795T>C (n.1-12795T>C)
c.6215T>C (p.Val2072Ala)
c.6761T>C (p.Val2254Ala)
c.6578T>C (p.Val2193Ala)
c.6299T>C (p.Val2100Ala)
c.5342T>C (p.Val1781Ala)
c.5333T>C (p.Val1778Ala)
5g.37051783T>GCA359509456NIPBLc.6959T>G (p.Val2320Gly)
n.841T>G
c.1-12795T>G (n.1-12795T>G)
c.6215T>G (p.Val2072Gly)
c.6761T>G (p.Val2254Gly)
c.6578T>G (p.Val2193Gly)
c.6299T>G (p.Val2100Gly)
c.5342T>G (p.Val1781Gly)
c.5333T>G (p.Val1778Gly)
5g.37051784G>ACA443909359NIPBLc.6960G>A (p.Val2320=)
n.842G>A
c.1-12794G>A (n.1-12794G>A)
c.6216G>A (p.Val2072=)
c.6762G>A (p.Val2254=)
c.6579G>A (p.Val2193=)
c.6300G>A (p.Val2100=)
c.5343G>A (p.Val1781=)
c.5334G>A (p.Val1778=)
 dbSNP gnomAD v4
5g.37051784G>CCA443909362NIPBLc.6960G>C (p.Val2320=)
n.842G>C
c.1-12794G>C (n.1-12794G>C)
c.6216G>C (p.Val2072=)
c.6762G>C (p.Val2254=)
c.6579G>C (p.Val2193=)
c.6300G>C (p.Val2100=)
c.5343G>C (p.Val1781=)
c.5334G>C (p.Val1778=)
5g.37051784G=CA1539571302NIPBLc.6960G= (p.Val2320=)
n.842G=
c.1-12794G= (n.1-12794G=)
c.6216G= (p.Val2072=)
c.6762G= (p.Val2254=)
c.6579G= (p.Val2193=)
c.6300G= (p.Val2100=)
c.5343G= (p.Val1781=)
c.5334G= (p.Val1778=)
5g.37051784G>TCA443909364NIPBLc.6960G>T (p.Val2320=)
n.842G>T
c.1-12794G>T (n.1-12794G>T)
c.6216G>T (p.Val2072=)
c.6762G>T (p.Val2254=)
c.6579G>T (p.Val2193=)
c.6300G>T (p.Val2100=)
c.5343G>T (p.Val1781=)
c.5334G>T (p.Val1778=)
5g.37051785C>ACA359509466NIPBLc.6961C>A (p.Pro2321Thr)
n.843C>A
c.1-12793C>A (n.1-12793C>A)
c.6217C>A (p.Pro2073Thr)
c.6763C>A (p.Pro2255Thr)
c.6580C>A (p.Pro2194Thr)
c.6301C>A (p.Pro2101Thr)
c.5344C>A (p.Pro1782Thr)
c.5335C>A (p.Pro1779Thr)
 gnomAD v4
5g.37051785C>GCA359509463NIPBLc.6961C>G (p.Pro2321Ala)
n.843C>G
c.1-12793C>G (n.1-12793C>G)
c.6217C>G (p.Pro2073Ala)
c.6763C>G (p.Pro2255Ala)
c.6580C>G (p.Pro2194Ala)
c.6301C>G (p.Pro2101Ala)
c.5344C>G (p.Pro1782Ala)
c.5335C>G (p.Pro1779Ala)
5g.37051785C>TCA359509460NIPBLc.6961C>T (p.Pro2321Ser)
n.843C>T
c.1-12793C>T (n.1-12793C>T)
c.6217C>T (p.Pro2073Ser)
c.6763C>T (p.Pro2255Ser)
c.6580C>T (p.Pro2194Ser)
c.6301C>T (p.Pro2101Ser)
c.5344C>T (p.Pro1782Ser)
c.5335C>T (p.Pro1779Ser)
 gnomAD v4
5g.37051786C>ACA359509469NIPBLc.6962C>A (p.Pro2321Gln)
n.844C>A
c.1-12792C>A (n.1-12792C>A)
c.6218C>A (p.Pro2073Gln)
c.6764C>A (p.Pro2255Gln)
c.6581C>A (p.Pro2194Gln)
c.6302C>A (p.Pro2101Gln)
c.5345C>A (p.Pro1782Gln)
c.5336C>A (p.Pro1779Gln)
5g.37051786C=CA1539571306NIPBLc.6962C= (p.Pro2321=)
n.844C=
c.1-12792C= (n.1-12792C=)
c.6218C= (p.Pro2073=)
c.6764C= (p.Pro2255=)
c.6581C= (p.Pro2194=)
c.6302C= (p.Pro2101=)
c.5345C= (p.Pro1782=)
c.5336C= (p.Pro1779=)
5g.37051786C>GCA359509480NIPBLc.6962C>G (p.Pro2321Arg)
n.844C>G
c.1-12792C>G (n.1-12792C>G)
c.6218C>G (p.Pro2073Arg)
c.6764C>G (p.Pro2255Arg)
c.6581C>G (p.Pro2194Arg)
c.6302C>G (p.Pro2101Arg)
c.5345C>G (p.Pro1782Arg)
c.5336C>G (p.Pro1779Arg)
5g.37051786C>TCA16618204NIPBLc.6962C>T (p.Pro2321Leu)
n.844C>T
c.1-12792C>T (n.1-12792C>T)
c.6218C>T (p.Pro2073Leu)
c.6764C>T (p.Pro2255Leu)
c.6581C>T (p.Pro2194Leu)
c.6302C>T (p.Pro2101Leu)
c.5345C>T (p.Pro1782Leu)
c.5336C>T (p.Pro1779Leu)
 ClinVar dbSNP gnomAD v4
5g.37051787A=CA1539571312NIPBLc.6963A= (p.Pro2321=)
n.845A=
c.1-12791A= (n.1-12791A=)
c.6219A= (p.Pro2073=)
c.6765A= (p.Pro2255=)
c.6582A= (p.Pro2194=)
c.6303A= (p.Pro2101=)
c.5346A= (p.Pro1782=)
c.5337A= (p.Pro1779=)
5g.37051787A>CCA443909375NIPBLc.6963A>C (p.Pro2321=)
n.845A>C
c.1-12791A>C (n.1-12791A>C)
c.6219A>C (p.Pro2073=)
c.6765A>C (p.Pro2255=)
c.6582A>C (p.Pro2194=)
c.6303A>C (p.Pro2101=)
c.5346A>C (p.Pro1782=)
c.5337A>C (p.Pro1779=)
5g.37051787A>GCA3237108NIPBLc.6963A>G (p.Pro2321=)
n.845A>G
c.1-12791A>G (n.1-12791A>G)
c.6219A>G (p.Pro2073=)
c.6765A>G (p.Pro2255=)
c.6582A>G (p.Pro2194=)
c.6303A>G (p.Pro2101=)
c.5346A>G (p.Pro1782=)
c.5337A>G (p.Pro1779=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.37051787A>TCA443909378NIPBLc.6963A>T (p.Pro2321=)
n.845A>T
c.1-12791A>T (n.1-12791A>T)
c.6219A>T (p.Pro2073=)
c.6765A>T (p.Pro2255=)
c.6582A>T (p.Pro2194=)
c.6303A>T (p.Pro2101=)
c.5346A>T (p.Pro1782=)
c.5337A>T (p.Pro1779=)
 dbSNP gnomAD v2 gnomAD v4
5g.37051788T>ACA359509497NIPBLc.6964T>A (p.Tyr2322Asn)
n.846T>A
c.1-12790T>A (n.1-12790T>A)
c.6220T>A (p.Tyr2074Asn)
c.6766T>A (p.Tyr2256Asn)
c.6583T>A (p.Tyr2195Asn)
c.6304T>A (p.Tyr2102Asn)
c.5347T>A (p.Tyr1783Asn)
c.5338T>A (p.Tyr1780Asn)
5g.37051788T>CCA359509504NIPBLc.6964T>C (p.Tyr2322His)
n.846T>C
c.1-12790T>C (n.1-12790T>C)
c.6220T>C (p.Tyr2074His)
c.6766T>C (p.Tyr2256His)
c.6583T>C (p.Tyr2195His)
c.6304T>C (p.Tyr2102His)
c.5347T>C (p.Tyr1783His)
c.5338T>C (p.Tyr1780His)
5g.37051788T>GCA359509507NIPBLc.6964T>G (p.Tyr2322Asp)
n.846T>G
c.1-12790T>G (n.1-12790T>G)
c.6220T>G (p.Tyr2074Asp)
c.6766T>G (p.Tyr2256Asp)
c.6583T>G (p.Tyr2195Asp)
c.6304T>G (p.Tyr2102Asp)
c.5347T>G (p.Tyr1783Asp)
c.5338T>G (p.Tyr1780Asp)
5g.37051789A>CCA359509511NIPBLc.6965A>C (p.Tyr2322Ser)
n.847A>C
c.1-12789A>C (n.1-12789A>C)
c.6221A>C (p.Tyr2074Ser)
c.6767A>C (p.Tyr2256Ser)
c.6584A>C (p.Tyr2195Ser)
c.6305A>C (p.Tyr2102Ser)
c.5348A>C (p.Tyr1783Ser)
c.5339A>C (p.Tyr1780Ser)
5g.37051789A>GCA359509514NIPBLc.6965A>G (p.Tyr2322Cys)
n.847A>G
c.1-12789A>G (n.1-12789A>G)
c.6221A>G (p.Tyr2074Cys)
c.6767A>G (p.Tyr2256Cys)
c.6584A>G (p.Tyr2195Cys)
c.6305A>G (p.Tyr2102Cys)
c.5348A>G (p.Tyr1783Cys)
c.5339A>G (p.Tyr1780Cys)
 gnomAD v4
5g.37051789A>TCA359509512NIPBLc.6965A>T (p.Tyr2322Phe)
n.847A>T
c.1-12789A>T (n.1-12789A>T)
c.6221A>T (p.Tyr2074Phe)
c.6767A>T (p.Tyr2256Phe)
c.6584A>T (p.Tyr2195Phe)
c.6305A>T (p.Tyr2102Phe)
c.5348A>T (p.Tyr1783Phe)
c.5339A>T (p.Tyr1780Phe)
 gnomAD v4
5g.37051792_37051796dupCA2695204429NIPBLc.6968_6972dup (p.Ala2325Ter)
n.850_854dup
c.1-12786_1-12782dup (n.1-12786_1-12782dup)
c.6224_6228dup (p.Ala2077Ter)
c.6770_6774dup (p.Ala2259Ter)
c.6587_6591dup (p.Ala2198Ter)
c.6308_6312dup (p.Ala2105Ter)
c.5351_5355dup (p.Ala1786Ter)
c.5342_5346dup (p.Ala1783Ter)
5g.37051790T>ACA359509516NIPBLc.6966T>A (p.Tyr2322Ter)
n.848T>A
c.1-12788T>A (n.1-12788T>A)
c.6222T>A (p.Tyr2074Ter)
c.6768T>A (p.Tyr2256Ter)
c.6585T>A (p.Tyr2195Ter)
c.6306T>A (p.Tyr2102Ter)
c.5349T>A (p.Tyr1783Ter)
c.5340T>A (p.Tyr1780Ter)
5g.37051790T>CCA443909390NIPBLc.6966T>C (p.Tyr2322=)
n.848T>C
c.1-12788T>C (n.1-12788T>C)
c.6222T>C (p.Tyr2074=)
c.6768T>C (p.Tyr2256=)
c.6585T>C (p.Tyr2195=)
c.6306T>C (p.Tyr2102=)
c.5349T>C (p.Tyr1783=)
c.5340T>C (p.Tyr1780=)
5g.37051790T>GCA359509518NIPBLc.6966T>G (p.Tyr2322Ter)
n.848T>G
c.1-12788T>G (n.1-12788T>G)
c.6222T>G (p.Tyr2074Ter)
c.6768T>G (p.Tyr2256Ter)
c.6585T>G (p.Tyr2195Ter)
c.6306T>G (p.Tyr2102Ter)
c.5349T>G (p.Tyr1783Ter)
c.5340T>G (p.Tyr1780Ter)
5g.37051791T>ACA359509523NIPBLc.6967T>A (p.Leu2323Ile)
n.849T>A
c.1-12787T>A (n.1-12787T>A)
c.6223T>A (p.Leu2075Ile)
c.6769T>A (p.Leu2257Ile)
c.6586T>A (p.Leu2196Ile)
c.6307T>A (p.Leu2103Ile)
c.5350T>A (p.Leu1784Ile)
c.5341T>A (p.Leu1781Ile)
5g.37051791T>CCA443909393NIPBLc.6967T>C (p.Leu2323=)
n.849T>C
c.1-12787T>C (n.1-12787T>C)
c.6223T>C (p.Leu2075=)
c.6769T>C (p.Leu2257=)
c.6586T>C (p.Leu2196=)
c.6307T>C (p.Leu2103=)
c.5350T>C (p.Leu1784=)
c.5341T>C (p.Leu1781=)
5g.37051791T>GCA359509527NIPBLc.6967T>G (p.Leu2323Val)
n.849T>G
c.1-12787T>G (n.1-12787T>G)
c.6223T>G (p.Leu2075Val)
c.6769T>G (p.Leu2257Val)
c.6586T>G (p.Leu2196Val)
c.6307T>G (p.Leu2103Val)
c.5350T>G (p.Leu1784Val)
c.5341T>G (p.Leu1781Val)
5g.37051792T>ACA359509530NIPBLc.6968T>A (p.Leu2323Ter)
n.850T>A
c.1-12786T>A (n.1-12786T>A)
c.6224T>A (p.Leu2075Ter)
c.6770T>A (p.Leu2257Ter)
c.6587T>A (p.Leu2196Ter)
c.6308T>A (p.Leu2103Ter)
c.5351T>A (p.Leu1784Ter)
c.5342T>A (p.Leu1781Ter)
5g.37051792T>CCA359509533NIPBLc.6968T>C (p.Leu2323Ser)
n.850T>C
c.1-12786T>C (n.1-12786T>C)
c.6224T>C (p.Leu2075Ser)
c.6770T>C (p.Leu2257Ser)
c.6587T>C (p.Leu2196Ser)
c.6308T>C (p.Leu2103Ser)
c.5351T>C (p.Leu1784Ser)
c.5342T>C (p.Leu1781Ser)
5g.37051792T>GCA359509537NIPBLc.6968T>G (p.Leu2323Ter)
n.850T>G
c.1-12786T>G (n.1-12786T>G)
c.6224T>G (p.Leu2075Ter)
c.6770T>G (p.Leu2257Ter)
c.6587T>G (p.Leu2196Ter)
c.6308T>G (p.Leu2103Ter)
c.5351T>G (p.Leu1784Ter)
c.5342T>G (p.Leu1781Ter)
5g.37051793A>CCA359509541NIPBLc.6969A>C (p.Leu2323Phe)
n.851A>C
c.1-12785A>C (n.1-12785A>C)
c.6225A>C (p.Leu2075Phe)
c.6771A>C (p.Leu2257Phe)
c.6588A>C (p.Leu2196Phe)
c.6309A>C (p.Leu2103Phe)
c.5352A>C (p.Leu1784Phe)
c.5343A>C (p.Leu1781Phe)
5g.37051793A>GCA443909402NIPBLc.6969A>G (p.Leu2323=)
n.851A>G
c.1-12785A>G (n.1-12785A>G)
c.6225A>G (p.Leu2075=)
c.6771A>G (p.Leu2257=)
c.6588A>G (p.Leu2196=)
c.6309A>G (p.Leu2103=)
c.5352A>G (p.Leu1784=)
c.5343A>G (p.Leu1781=)
5g.37051793A>TCA359509543NIPBLc.6969A>T (p.Leu2323Phe)
n.851A>T
c.1-12785A>T (n.1-12785A>T)
c.6225A>T (p.Leu2075Phe)
c.6771A>T (p.Leu2257Phe)
c.6588A>T (p.Leu2196Phe)
c.6309A>T (p.Leu2103Phe)
c.5352A>T (p.Leu1784Phe)
c.5343A>T (p.Leu1781Phe)
5g.37051794A=CA1539571317NIPBLc.6970A= (p.Ile2324=)
n.852A=
c.1-12784A= (n.1-12784A=)
c.6226A= (p.Ile2076=)
c.6772A= (p.Ile2258=)
c.6589A= (p.Ile2197=)
c.6310A= (p.Ile2104=)
c.5353A= (p.Ile1785=)
c.5344A= (p.Ile1782=)
5g.37051794A>CCA359509545NIPBLc.6970A>C (p.Ile2324Leu)
n.852A>C
c.1-12784A>C (n.1-12784A>C)
c.6226A>C (p.Ile2076Leu)
c.6772A>C (p.Ile2258Leu)
c.6589A>C (p.Ile2197Leu)
c.6310A>C (p.Ile2104Leu)
c.5353A>C (p.Ile1785Leu)
c.5344A>C (p.Ile1782Leu)
5g.37051794A>GCA117050991NIPBLc.6970A>G (p.Ile2324Val)
n.852A>G
c.1-12784A>G (n.1-12784A>G)
c.6226A>G (p.Ile2076Val)
c.6772A>G (p.Ile2258Val)
c.6589A>G (p.Ile2197Val)
c.6310A>G (p.Ile2104Val)
c.5353A>G (p.Ile1785Val)
c.5344A>G (p.Ile1782Val)
 dbSNP gnomAD v3 gnomAD v4
5g.37051794A>TCA359509547NIPBLc.6970A>T (p.Ile2324Phe)
n.852A>T
c.1-12784A>T (n.1-12784A>T)
c.6226A>T (p.Ile2076Phe)
c.6772A>T (p.Ile2258Phe)
c.6589A>T (p.Ile2197Phe)
c.6310A>T (p.Ile2104Phe)
c.5353A>T (p.Ile1785Phe)
c.5344A>T (p.Ile1782Phe)
5g.37051795T>ACA359509550NIPBLc.6971T>A (p.Ile2324Asn)
n.853T>A
c.1-12783T>A (n.1-12783T>A)
c.6227T>A (p.Ile2076Asn)
c.6773T>A (p.Ile2258Asn)
c.6590T>A (p.Ile2197Asn)
c.6311T>A (p.Ile2104Asn)
c.5354T>A (p.Ile1785Asn)
c.5345T>A (p.Ile1782Asn)
5g.37051795T>CCA359509555NIPBLc.6971T>C (p.Ile2324Thr)
n.853T>C
c.1-12783T>C (n.1-12783T>C)
c.6227T>C (p.Ile2076Thr)
c.6773T>C (p.Ile2258Thr)
c.6590T>C (p.Ile2197Thr)
c.6311T>C (p.Ile2104Thr)
c.5354T>C (p.Ile1785Thr)
c.5345T>C (p.Ile1782Thr)
5g.37051795T>GCA359509553NIPBLc.6971T>G (p.Ile2324Ser)
n.853T>G
c.1-12783T>G (n.1-12783T>G)
c.6227T>G (p.Ile2076Ser)
c.6773T>G (p.Ile2258Ser)
c.6590T>G (p.Ile2197Ser)
c.6311T>G (p.Ile2104Ser)
c.5354T>G (p.Ile1785Ser)
c.5345T>G (p.Ile1782Ser)
5g.37051796T>ACA443909414NIPBLc.6972T>A (p.Ile2324=)
n.854T>A
c.1-12782T>A (n.1-12782T>A)
c.6228T>A (p.Ile2076=)
c.6774T>A (p.Ile2258=)
c.6591T>A (p.Ile2197=)
c.6312T>A (p.Ile2104=)
c.5355T>A (p.Ile1785=)
c.5346T>A (p.Ile1782=)
5g.37051796T>CCA443909416NIPBLc.6972T>C (p.Ile2324=)
n.854T>C
c.1-12782T>C (n.1-12782T>C)
c.6228T>C (p.Ile2076=)
c.6774T>C (p.Ile2258=)
c.6591T>C (p.Ile2197=)
c.6312T>C (p.Ile2104=)
c.5355T>C (p.Ile1785=)
c.5346T>C (p.Ile1782=)
5g.37051796T>GCA359509559NIPBLc.6972T>G (p.Ile2324Met)
n.854T>G
c.1-12782T>G (n.1-12782T>G)
c.6228T>G (p.Ile2076Met)
c.6774T>G (p.Ile2258Met)
c.6591T>G (p.Ile2197Met)
c.6312T>G (p.Ile2104Met)
c.5355T>G (p.Ile1785Met)
c.5346T>G (p.Ile1782Met)
5g.37051797G>ACA359509563NIPBLc.6973G>A (p.Ala2325Thr)
n.855G>A
c.1-12781G>A (n.1-12781G>A)
c.6229G>A (p.Ala2077Thr)
c.6775G>A (p.Ala2259Thr)
c.6592G>A (p.Ala2198Thr)
c.6313G>A (p.Ala2105Thr)
c.5356G>A (p.Ala1786Thr)
c.5347G>A (p.Ala1783Thr)
5g.37051797G>CCA359509564NIPBLc.6973G>C (p.Ala2325Pro)
n.855G>C
c.1-12781G>C (n.1-12781G>C)
c.6229G>C (p.Ala2077Pro)
c.6775G>C (p.Ala2259Pro)
c.6592G>C (p.Ala2198Pro)
c.6313G>C (p.Ala2105Pro)
c.5356G>C (p.Ala1786Pro)
c.5347G>C (p.Ala1783Pro)
5g.37051797G>TCA359509565NIPBLc.6973G>T (p.Ala2325Ser)
n.855G>T
c.1-12781G>T (n.1-12781G>T)
c.6229G>T (p.Ala2077Ser)
c.6775G>T (p.Ala2259Ser)
c.6592G>T (p.Ala2198Ser)
c.6313G>T (p.Ala2105Ser)
c.5356G>T (p.Ala1786Ser)
c.5347G>T (p.Ala1783Ser)
5g.37051798C>ACA359509566NIPBLc.6974C>A (p.Ala2325Asp)
n.856C>A
c.1-12780C>A (n.1-12780C>A)
c.6230C>A (p.Ala2077Asp)
c.6776C>A (p.Ala2259Asp)
c.6593C>A (p.Ala2198Asp)
c.6314C>A (p.Ala2105Asp)
c.5357C>A (p.Ala1786Asp)
c.5348C>A (p.Ala1783Asp)
5g.37051798C>GCA359509567NIPBLc.6974C>G (p.Ala2325Gly)
n.856C>G
c.1-12780C>G (n.1-12780C>G)
c.6230C>G (p.Ala2077Gly)
c.6776C>G (p.Ala2259Gly)
c.6593C>G (p.Ala2198Gly)
c.6314C>G (p.Ala2105Gly)
c.5357C>G (p.Ala1786Gly)
c.5348C>G (p.Ala1783Gly)
5g.37051798C>TCA359509568NIPBLc.6974C>T (p.Ala2325Val)
n.856C>T
c.1-12780C>T (n.1-12780C>T)
c.6230C>T (p.Ala2077Val)
c.6776C>T (p.Ala2259Val)
c.6593C>T (p.Ala2198Val)
c.6314C>T (p.Ala2105Val)
c.5357C>T (p.Ala1786Val)
c.5348C>T (p.Ala1783Val)
5g.37051799T>ACA443909427NIPBLc.6975T>A (p.Ala2325=)
n.857T>A
c.1-12779T>A (n.1-12779T>A)
c.6231T>A (p.Ala2077=)
c.6777T>A (p.Ala2259=)
c.6594T>A (p.Ala2198=)
c.6315T>A (p.Ala2105=)
c.5358T>A (p.Ala1786=)
c.5349T>A (p.Ala1783=)
5g.37051799T>CCA443909429NIPBLc.6975T>C (p.Ala2325=)
n.857T>C
c.1-12779T>C (n.1-12779T>C)
c.6231T>C (p.Ala2077=)
c.6777T>C (p.Ala2259=)
c.6594T>C (p.Ala2198=)
c.6315T>C (p.Ala2105=)
c.5358T>C (p.Ala1786=)
c.5349T>C (p.Ala1783=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.37051799T>GCA443909431NIPBLc.6975T>G (p.Ala2325=)
n.857T>G
c.1-12779T>G (n.1-12779T>G)
c.6231T>G (p.Ala2077=)
c.6777T>G (p.Ala2259=)
c.6594T>G (p.Ala2198=)
c.6315T>G (p.Ala2105=)
c.5358T>G (p.Ala1786=)
c.5349T>G (p.Ala1783=)
5g.37051799T=CA1539571319NIPBLc.6975T= (p.Ala2325=)
n.857T=
c.1-12779T= (n.1-12779T=)
c.6231T= (p.Ala2077=)
c.6777T= (p.Ala2259=)
c.6594T= (p.Ala2198=)
c.6315T= (p.Ala2105=)
c.5358T= (p.Ala1786=)
c.5349T= (p.Ala1783=)
5g.37051800A=CA1539571324NIPBLc.6976A= (p.Met2326=)
n.858A=
c.1-12778A= (n.1-12778A=)
c.6232A= (p.Met2078=)
c.6778A= (p.Met2260=)
c.6595A= (p.Met2199=)
c.6316A= (p.Met2106=)
c.5359A= (p.Met1787=)
c.5350A= (p.Met1784=)
5g.37051800A>CCA359509571NIPBLc.6976A>C (p.Met2326Leu)
n.858A>C
c.1-12778A>C (n.1-12778A>C)
c.6232A>C (p.Met2078Leu)
c.6778A>C (p.Met2260Leu)
c.6595A>C (p.Met2199Leu)
c.6316A>C (p.Met2106Leu)
c.5359A>C (p.Met1787Leu)
c.5350A>C (p.Met1784Leu)
5g.37051800A>GCA359509573NIPBLc.6976A>G (p.Met2326Val)
n.858A>G
c.1-12778A>G (n.1-12778A>G)
c.6232A>G (p.Met2078Val)
c.6778A>G (p.Met2260Val)
c.6595A>G (p.Met2199Val)
c.6316A>G (p.Met2106Val)
c.5359A>G (p.Met1787Val)
c.5350A>G (p.Met1784Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37051800A>TCA359509574NIPBLc.6976A>T (p.Met2326Leu)
n.858A>T
c.1-12778A>T (n.1-12778A>T)
c.6232A>T (p.Met2078Leu)
c.6778A>T (p.Met2260Leu)
c.6595A>T (p.Met2199Leu)
c.6316A>T (p.Met2106Leu)
c.5359A>T (p.Met1787Leu)
c.5350A>T (p.Met1784Leu)
5g.37051801T>ACA359509577NIPBLc.6977T>A (p.Met2326Lys)
n.859T>A
c.1-12777T>A (n.1-12777T>A)
c.6233T>A (p.Met2078Lys)
c.6779T>A (p.Met2260Lys)
c.6596T>A (p.Met2199Lys)
c.6317T>A (p.Met2106Lys)
c.5360T>A (p.Met1787Lys)
c.5351T>A (p.Met1784Lys)
5g.37051801T>CCA359509579NIPBLc.6977T>C (p.Met2326Thr)
n.859T>C
c.1-12777T>C (n.1-12777T>C)
c.6233T>C (p.Met2078Thr)
c.6779T>C (p.Met2260Thr)
c.6596T>C (p.Met2199Thr)
c.6317T>C (p.Met2106Thr)
c.5360T>C (p.Met1787Thr)
c.5351T>C (p.Met1784Thr)
 dbSNP
5g.37051801T>GCA359509583NIPBLc.6977T>G (p.Met2326Arg)
n.859T>G
c.1-12777T>G (n.1-12777T>G)
c.6233T>G (p.Met2078Arg)
c.6779T>G (p.Met2260Arg)
c.6596T>G (p.Met2199Arg)
c.6317T>G (p.Met2106Arg)
c.5360T>G (p.Met1787Arg)
c.5351T>G (p.Met1784Arg)
 ClinVar
5g.37051802G>ACA359509588NIPBLc.6978G>A (p.Met2326Ile)
n.860G>A
c.1-12776G>A (n.1-12776G>A)
c.6234G>A (p.Met2078Ile)
c.6780G>A (p.Met2260Ile)
c.6597G>A (p.Met2199Ile)
c.6318G>A (p.Met2106Ile)
c.5361G>A (p.Met1787Ile)
c.5352G>A (p.Met1784Ile)
5g.37051802G>CCA359509585NIPBLc.6978G>C (p.Met2326Ile)
n.860G>C
c.1-12776G>C (n.1-12776G>C)
c.6234G>C (p.Met2078Ile)
c.6780G>C (p.Met2260Ile)
c.6597G>C (p.Met2199Ile)
c.6318G>C (p.Met2106Ile)
c.5361G>C (p.Met1787Ile)
c.5352G>C (p.Met1784Ile)
5g.37051802G>TCA359509587NIPBLc.6978G>T (p.Met2326Ile)
n.860G>T
c.1-12776G>T (n.1-12776G>T)
c.6234G>T (p.Met2078Ile)
c.6780G>T (p.Met2260Ile)
c.6597G>T (p.Met2199Ile)
c.6318G>T (p.Met2106Ile)
c.5361G>T (p.Met1787Ile)
c.5352G>T (p.Met1784Ile)
5g.37051803G>ACA359509591NIPBLc.6979G>A (p.Gly2327Ser)
n.861G>A
c.1-12775G>A (n.1-12775G>A)
c.6235G>A (p.Gly2079Ser)
c.6781G>A (p.Gly2261Ser)
c.6598G>A (p.Gly2200Ser)
c.6319G>A (p.Gly2107Ser)
c.5362G>A (p.Gly1788Ser)
c.5353G>A (p.Gly1785Ser)
5g.37051803G>CCA359509593NIPBLc.6979G>C (p.Gly2327Arg)
n.861G>C
c.1-12775G>C (n.1-12775G>C)
c.6235G>C (p.Gly2079Arg)
c.6781G>C (p.Gly2261Arg)
c.6598G>C (p.Gly2200Arg)
c.6319G>C (p.Gly2107Arg)
c.5362G>C (p.Gly1788Arg)
c.5353G>C (p.Gly1785Arg)
5g.37051803G>TCA359509597NIPBLc.6979G>T (p.Gly2327Cys)
n.861G>T
c.1-12775G>T (n.1-12775G>T)
c.6235G>T (p.Gly2079Cys)
c.6781G>T (p.Gly2261Cys)
c.6598G>T (p.Gly2200Cys)
c.6319G>T (p.Gly2107Cys)
c.5362G>T (p.Gly1788Cys)
c.5353G>T (p.Gly1785Cys)
5g.37051804G>ACA359509600NIPBLc.6980G>A (p.Gly2327Asp)
n.862G>A
c.1-12774G>A (n.1-12774G>A)
c.6236G>A (p.Gly2079Asp)
c.6782G>A (p.Gly2261Asp)
c.6599G>A (p.Gly2200Asp)
c.6320G>A (p.Gly2107Asp)
c.5363G>A (p.Gly1788Asp)
c.5354G>A (p.Gly1785Asp)
5g.37051804G>CCA359509601NIPBLc.6980G>C (p.Gly2327Ala)
n.862G>C
c.1-12774G>C (n.1-12774G>C)
c.6236G>C (p.Gly2079Ala)
c.6782G>C (p.Gly2261Ala)
c.6599G>C (p.Gly2200Ala)
c.6320G>C (p.Gly2107Ala)
c.5363G>C (p.Gly1788Ala)
c.5354G>C (p.Gly1785Ala)
5g.37051804G>TCA359509604NIPBLc.6980G>T (p.Gly2327Val)
n.862G>T
c.1-12774G>T (n.1-12774G>T)
c.6236G>T (p.Gly2079Val)
c.6782G>T (p.Gly2261Val)
c.6599G>T (p.Gly2200Val)
c.6320G>T (p.Gly2107Val)
c.5363G>T (p.Gly1788Val)
c.5354G>T (p.Gly1785Val)
5g.37051805C>ACA443909457NIPBLc.6981C>A (p.Gly2327=)
n.863C>A
c.1-12773C>A (n.1-12773C>A)
c.6237C>A (p.Gly2079=)
c.6783C>A (p.Gly2261=)
c.6600C>A (p.Gly2200=)
c.6321C>A (p.Gly2107=)
c.5364C>A (p.Gly1788=)
c.5355C>A (p.Gly1785=)
5g.37051805C=CA1539571331NIPBLc.6981C= (p.Gly2327=)
n.863C=
c.1-12773C= (n.1-12773C=)
c.6237C= (p.Gly2079=)
c.6783C= (p.Gly2261=)
c.6600C= (p.Gly2200=)
c.6321C= (p.Gly2107=)
c.5364C= (p.Gly1788=)
c.5355C= (p.Gly1785=)
5g.37051805C>GCA443909459NIPBLc.6981C>G (p.Gly2327=)
n.863C>G
c.1-12773C>G (n.1-12773C>G)
c.6237C>G (p.Gly2079=)
c.6783C>G (p.Gly2261=)
c.6600C>G (p.Gly2200=)
c.6321C>G (p.Gly2107=)
c.5364C>G (p.Gly1788=)
c.5355C>G (p.Gly1785=)
5g.37051805C>TCA443909461NIPBLc.6981C>T (p.Gly2327=)
n.863C>T
c.1-12773C>T (n.1-12773C>T)
c.6237C>T (p.Gly2079=)
c.6783C>T (p.Gly2261=)
c.6600C>T (p.Gly2200=)
c.6321C>T (p.Gly2107=)
c.5364C>T (p.Gly1788=)
c.5355C>T (p.Gly1785=)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
5g.37051806A>CCA359509608NIPBLc.6982A>C (p.Thr2328Pro)
n.864A>C
c.1-12772A>C (n.1-12772A>C)
c.6238A>C (p.Thr2080Pro)
c.6784A>C (p.Thr2262Pro)
c.6601A>C (p.Thr2201Pro)
c.6322A>C (p.Thr2108Pro)
c.5365A>C (p.Thr1789Pro)
c.5356A>C (p.Thr1786Pro)
5g.37051806A>GCA359509611NIPBLc.6982A>G (p.Thr2328Ala)
n.864A>G
c.1-12772A>G (n.1-12772A>G)
c.6238A>G (p.Thr2080Ala)
c.6784A>G (p.Thr2262Ala)
c.6601A>G (p.Thr2201Ala)
c.6322A>G (p.Thr2108Ala)
c.5365A>G (p.Thr1789Ala)
c.5356A>G (p.Thr1786Ala)
 COSMIC COSMIC
5g.37051806A>TCA359509614NIPBLc.6982A>T (p.Thr2328Ser)
n.864A>T
c.1-12772A>T (n.1-12772A>T)
c.6238A>T (p.Thr2080Ser)
c.6784A>T (p.Thr2262Ser)
c.6601A>T (p.Thr2201Ser)
c.6322A>T (p.Thr2108Ser)
c.5365A>T (p.Thr1789Ser)
c.5356A>T (p.Thr1786Ser)
5g.37051807C>ACA359509616NIPBLc.6983C>A (p.Thr2328Lys)
n.865C>A
c.1-12771C>A (n.1-12771C>A)
c.6239C>A (p.Thr2080Lys)
c.6785C>A (p.Thr2262Lys)
c.6602C>A (p.Thr2201Lys)
c.6323C>A (p.Thr2108Lys)
c.5366C>A (p.Thr1789Lys)
c.5357C>A (p.Thr1786Lys)
5g.37051807C>GCA359509620NIPBLc.6983C>G (p.Thr2328Arg)
n.865C>G
c.1-12771C>G (n.1-12771C>G)
c.6239C>G (p.Thr2080Arg)
c.6785C>G (p.Thr2262Arg)
c.6602C>G (p.Thr2201Arg)
c.6323C>G (p.Thr2108Arg)
c.5366C>G (p.Thr1789Arg)
c.5357C>G (p.Thr1786Arg)
5g.37051807C>TCA359509625NIPBLc.6983C>T (p.Thr2328Ile)
n.865C>T
c.1-12771C>T (n.1-12771C>T)
c.6239C>T (p.Thr2080Ile)
c.6785C>T (p.Thr2262Ile)
c.6602C>T (p.Thr2201Ile)
c.6323C>T (p.Thr2108Ile)
c.5366C>T (p.Thr1789Ile)
c.5357C>T (p.Thr1786Ile)
5g.37051808A=CA1539571346NIPBLc.6984A= (p.Thr2328=)
n.866A=
c.1-12770A= (n.1-12770A=)
c.6240A= (p.Thr2080=)
c.6786A= (p.Thr2262=)
c.6603A= (p.Thr2201=)
c.6324A= (p.Thr2108=)
c.5367A= (p.Thr1789=)
c.5358A= (p.Thr1786=)
5g.37051808A>CCA443909473NIPBLc.6984A>C (p.Thr2328=)
n.866A>C
c.1-12770A>C (n.1-12770A>C)
c.6240A>C (p.Thr2080=)
c.6786A>C (p.Thr2262=)
c.6603A>C (p.Thr2201=)
c.6324A>C (p.Thr2108=)
c.5367A>C (p.Thr1789=)
c.5358A>C (p.Thr1786=)
5g.37051808A>GCA443909476NIPBLc.6984A>G (p.Thr2328=)
n.866A>G
c.1-12770A>G (n.1-12770A>G)
c.6240A>G (p.Thr2080=)
c.6786A>G (p.Thr2262=)
c.6603A>G (p.Thr2201=)
c.6324A>G (p.Thr2108=)
c.5367A>G (p.Thr1789=)
c.5358A>G (p.Thr1786=)
 dbSNP gnomAD v2 gnomAD v4
5g.37051808A>TCA443909477NIPBLc.6984A>T (p.Thr2328=)
n.866A>T
c.1-12770A>T (n.1-12770A>T)
c.6240A>T (p.Thr2080=)
c.6786A>T (p.Thr2262=)
c.6603A>T (p.Thr2201=)
c.6324A>T (p.Thr2108=)
c.5367A>T (p.Thr1789=)
c.5358A>T (p.Thr1786=)
5g.37051809G>ACA359509630NIPBLc.6985G>A (p.Asp2329Asn)
n.867G>A
c.1-12769G>A (n.1-12769G>A)
c.6241G>A (p.Asp2081Asn)
c.6787G>A (p.Asp2263Asn)
c.6604G>A (p.Asp2202Asn)
c.6325G>A (p.Asp2109Asn)
c.5368G>A (p.Asp1790Asn)
c.5359G>A (p.Asp1787Asn)
5g.37051809G>CCA359509636NIPBLc.6985G>C (p.Asp2329His)
n.867G>C
c.1-12769G>C (n.1-12769G>C)
c.6241G>C (p.Asp2081His)
c.6787G>C (p.Asp2263His)
c.6604G>C (p.Asp2202His)
c.6325G>C (p.Asp2109His)
c.5368G>C (p.Asp1790His)
c.5359G>C (p.Asp1787His)
5g.37051809G>TCA359509632NIPBLc.6985G>T (p.Asp2329Tyr)
n.867G>T
c.1-12769G>T (n.1-12769G>T)
c.6241G>T (p.Asp2081Tyr)
c.6787G>T (p.Asp2263Tyr)
c.6604G>T (p.Asp2202Tyr)
c.6325G>T (p.Asp2109Tyr)
c.5368G>T (p.Asp1790Tyr)
c.5359G>T (p.Asp1787Tyr)
5g.37051810A>CCA359509644NIPBLc.6986A>C (p.Asp2329Ala)
n.868A>C
c.1-12768A>C (n.1-12768A>C)
c.6242A>C (p.Asp2081Ala)
c.6788A>C (p.Asp2263Ala)
c.6605A>C (p.Asp2202Ala)
c.6326A>C (p.Asp2109Ala)
c.5369A>C (p.Asp1790Ala)
c.5360A>C (p.Asp1787Ala)
5g.37051810A>GCA359509656NIPBLc.6986A>G (p.Asp2329Gly)
n.868A>G
c.1-12768A>G (n.1-12768A>G)
c.6242A>G (p.Asp2081Gly)
c.6788A>G (p.Asp2263Gly)
c.6605A>G (p.Asp2202Gly)
c.6326A>G (p.Asp2109Gly)
c.5369A>G (p.Asp1790Gly)
c.5360A>G (p.Asp1787Gly)
 gnomAD v3 gnomAD v4
5g.37051810A>TCA359509648NIPBLc.6986A>T (p.Asp2329Val)
n.868A>T
c.1-12768A>T (n.1-12768A>T)
c.6242A>T (p.Asp2081Val)
c.6788A>T (p.Asp2263Val)
c.6605A>T (p.Asp2202Val)
c.6326A>T (p.Asp2109Val)
c.5369A>T (p.Asp1790Val)
c.5360A>T (p.Asp1787Val)
5g.37051811C>ACA359509659NIPBLc.6987C>A (p.Asp2329Glu)
n.869C>A
c.1-12767C>A (n.1-12767C>A)
c.6243C>A (p.Asp2081Glu)
c.6789C>A (p.Asp2263Glu)
c.6606C>A (p.Asp2202Glu)
c.6327C>A (p.Asp2109Glu)
c.5370C>A (p.Asp1790Glu)
c.5361C>A (p.Asp1787Glu)
5g.37051811C>GCA359509662NIPBLc.6987C>G (p.Asp2329Glu)
n.869C>G
c.1-12767C>G (n.1-12767C>G)
c.6243C>G (p.Asp2081Glu)
c.6789C>G (p.Asp2263Glu)
c.6606C>G (p.Asp2202Glu)
c.6327C>G (p.Asp2109Glu)
c.5370C>G (p.Asp1790Glu)
c.5361C>G (p.Asp1787Glu)
5g.37051811C>TCA443909490NIPBLc.6987C>T (p.Asp2329=)
n.869C>T
c.1-12767C>T (n.1-12767C>T)
c.6243C>T (p.Asp2081=)
c.6789C>T (p.Asp2263=)
c.6606C>T (p.Asp2202=)
c.6327C>T (p.Asp2109=)
c.5370C>T (p.Asp1790=)
c.5361C>T (p.Asp1787=)
 gnomAD v4
5g.37051811_37051818delinsACA2695204430NIPBLc.6987_6994delinsA (p.Asp2329GlufsTer15)
n.869_876delinsA
c.1-12767_1-12760delinsA (n.1-12767_1-12760delinsA)
c.6243_6250delinsA (p.Asp2081GlufsTer15)
c.6789_6796delinsA (p.Asp2263GlufsTer15)
c.6606_6613delinsA (p.Asp2202GlufsTer15)
c.6327_6334delinsA (p.Asp2109GlufsTer15)
c.5370_5377delinsA (p.Asp1790GlufsTer15)
c.5361_5368delinsA (p.Asp1787GlufsTer15)
5g.37051812C>ACA359509664NIPBLc.6988C>A (p.Pro2330Thr)
n.870C>A
c.1-12766C>A (n.1-12766C>A)
c.6244C>A (p.Pro2082Thr)
c.6790C>A (p.Pro2264Thr)
c.6607C>A (p.Pro2203Thr)
c.6328C>A (p.Pro2110Thr)
c.5371C>A (p.Pro1791Thr)
c.5362C>A (p.Pro1788Thr)
 ClinVar dbSNP
5g.37051812C=CA1539571349NIPBLc.6988C= (p.Pro2330=)
n.870C=
c.1-12766C= (n.1-12766C=)
c.6244C= (p.Pro2082=)
c.6790C= (p.Pro2264=)
c.6607C= (p.Pro2203=)
c.6328C= (p.Pro2110=)
c.5371C= (p.Pro1791=)
c.5362C= (p.Pro1788=)
5g.37051812C>GCA3237109NIPBLc.6988C>G (p.Pro2330Ala)
n.870C>G
c.1-12766C>G (n.1-12766C>G)
c.6244C>G (p.Pro2082Ala)
c.6790C>G (p.Pro2264Ala)
c.6607C>G (p.Pro2203Ala)
c.6328C>G (p.Pro2110Ala)
c.5371C>G (p.Pro1791Ala)
c.5362C>G (p.Pro1788Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.37051812C>TCA359509668NIPBLc.6988C>T (p.Pro2330Ser)
n.870C>T
c.1-12766C>T (n.1-12766C>T)
c.6244C>T (p.Pro2082Ser)
c.6790C>T (p.Pro2264Ser)
c.6607C>T (p.Pro2203Ser)
c.6328C>T (p.Pro2110Ser)
c.5371C>T (p.Pro1791Ser)
c.5362C>T (p.Pro1788Ser)
 gnomAD v4
5g.37051813C>ACA359509675NIPBLc.6989C>A (p.Pro2330Gln)
n.871C>A
c.1-12765C>A (n.1-12765C>A)
c.6245C>A (p.Pro2082Gln)
c.6791C>A (p.Pro2264Gln)
c.6608C>A (p.Pro2203Gln)
c.6329C>A (p.Pro2110Gln)
c.5372C>A (p.Pro1791Gln)
c.5363C>A (p.Pro1788Gln)
 dbSNP
5g.37051813C=CA1539571353NIPBLc.6989C= (p.Pro2330=)
n.871C=
c.1-12765C= (n.1-12765C=)
c.6245C= (p.Pro2082=)
c.6791C= (p.Pro2264=)
c.6608C= (p.Pro2203=)
c.6329C= (p.Pro2110=)
c.5372C= (p.Pro1791=)
c.5363C= (p.Pro1788=)
5g.37051813C>GCA359509672NIPBLc.6989C>G (p.Pro2330Arg)
n.871C>G
c.1-12765C>G (n.1-12765C>G)
c.6245C>G (p.Pro2082Arg)
c.6791C>G (p.Pro2264Arg)
c.6608C>G (p.Pro2203Arg)
c.6329C>G (p.Pro2110Arg)
c.5372C>G (p.Pro1791Arg)
c.5363C>G (p.Pro1788Arg)
5g.37051813C>TCA359509670NIPBLc.6989C>T (p.Pro2330Leu)
n.871C>T
c.1-12765C>T (n.1-12765C>T)
c.6245C>T (p.Pro2082Leu)
c.6791C>T (p.Pro2264Leu)
c.6608C>T (p.Pro2203Leu)
c.6329C>T (p.Pro2110Leu)
c.5372C>T (p.Pro1791Leu)
c.5363C>T (p.Pro1788Leu)
5g.37051814A>CCA443909505NIPBLc.6990A>C (p.Pro2330=)
n.872A>C
c.1-12764A>C (n.1-12764A>C)
c.6246A>C (p.Pro2082=)
c.6792A>C (p.Pro2264=)
c.6609A>C (p.Pro2203=)
c.6330A>C (p.Pro2110=)
c.5373A>C (p.Pro1791=)
c.5364A>C (p.Pro1788=)
5g.37051814A>GCA443909507NIPBLc.6990A>G (p.Pro2330=)
n.872A>G
c.1-12764A>G (n.1-12764A>G)
c.6246A>G (p.Pro2082=)
c.6792A>G (p.Pro2264=)
c.6609A>G (p.Pro2203=)
c.6330A>G (p.Pro2110=)
c.5373A>G (p.Pro1791=)
c.5364A>G (p.Pro1788=)
 gnomAD v4
5g.37051814A>TCA443909510NIPBLc.6990A>T (p.Pro2330=)
n.872A>T
c.1-12764A>T (n.1-12764A>T)
c.6246A>T (p.Pro2082=)
c.6792A>T (p.Pro2264=)
c.6609A>T (p.Pro2203=)
c.6330A>T (p.Pro2110=)
c.5373A>T (p.Pro1791=)
c.5364A>T (p.Pro1788=)
5g.37051815G>ACA359509681NIPBLc.6991G>A (p.Glu2331Lys)
n.873G>A
c.1-12763G>A (n.1-12763G>A)
c.6247G>A (p.Glu2083Lys)
c.6793G>A (p.Glu2265Lys)
c.6610G>A (p.Glu2204Lys)
c.6331G>A (p.Glu2111Lys)
c.5374G>A (p.Glu1792Lys)
c.5365G>A (p.Glu1789Lys)
5g.37051815G>CCA3237110NIPBLc.6991G>C (p.Glu2331Gln)
n.873G>C
c.1-12763G>C (n.1-12763G>C)
c.6247G>C (p.Glu2083Gln)
c.6793G>C (p.Glu2265Gln)
c.6610G>C (p.Glu2204Gln)
c.6331G>C (p.Glu2111Gln)
c.5374G>C (p.Glu1792Gln)
c.5365G>C (p.Glu1789Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37051815G=CA1539571359NIPBLc.6991G= (p.Glu2331=)
n.873G=
c.1-12763G= (n.1-12763G=)
c.6247G= (p.Glu2083=)
c.6793G= (p.Glu2265=)
c.6610G= (p.Glu2204=)
c.6331G= (p.Glu2111=)
c.5374G= (p.Glu1792=)
c.5365G= (p.Glu1789=)
5g.37051815G>TCA359509683NIPBLc.6991G>T (p.Glu2331Ter)
n.873G>T
c.1-12763G>T (n.1-12763G>T)
c.6247G>T (p.Glu2083Ter)
c.6793G>T (p.Glu2265Ter)
c.6610G>T (p.Glu2204Ter)
c.6331G>T (p.Glu2111Ter)
c.5374G>T (p.Glu1792Ter)
c.5365G>T (p.Glu1789Ter)
5g.37051816A=CA1539571363NIPBLc.6992A= (p.Glu2331=)
n.874A=
c.1-12762A= (n.1-12762A=)
c.6248A= (p.Glu2083=)
c.6794A= (p.Glu2265=)
c.6611A= (p.Glu2204=)
c.6332A= (p.Glu2111=)
c.5375A= (p.Glu1792=)
c.5366A= (p.Glu1789=)
5g.37051816A>CCA359509688NIPBLc.6992A>C (p.Glu2331Ala)
n.874A>C
c.1-12762A>C (n.1-12762A>C)
c.6248A>C (p.Glu2083Ala)
c.6794A>C (p.Glu2265Ala)
c.6611A>C (p.Glu2204Ala)
c.6332A>C (p.Glu2111Ala)
c.5375A>C (p.Glu1792Ala)
c.5366A>C (p.Glu1789Ala)
 COSMIC COSMIC
5g.37051816A>GCA359509691NIPBLc.6992A>G (p.Glu2331Gly)
n.874A>G
c.1-12762A>G (n.1-12762A>G)
c.6248A>G (p.Glu2083Gly)
c.6794A>G (p.Glu2265Gly)
c.6611A>G (p.Glu2204Gly)
c.6332A>G (p.Glu2111Gly)
c.5375A>G (p.Glu1792Gly)
c.5366A>G (p.Glu1789Gly)
 dbSNP gnomAD v2 gnomAD v4
5g.37051816A>TCA359509696NIPBLc.6992A>T (p.Glu2331Val)
n.874A>T
c.1-12762A>T (n.1-12762A>T)
c.6248A>T (p.Glu2083Val)
c.6794A>T (p.Glu2265Val)
c.6611A>T (p.Glu2204Val)
c.6332A>T (p.Glu2111Val)
c.5375A>T (p.Glu1792Val)
c.5366A>T (p.Glu1789Val)
5g.37051817A=CA1539571377NIPBLc.6993A= (p.Glu2331=)
n.875A=
c.1-12761A= (n.1-12761A=)
c.6249A= (p.Glu2083=)
c.6795A= (p.Glu2265=)
c.6612A= (p.Glu2204=)
c.6333A= (p.Glu2111=)
c.5376A= (p.Glu1792=)
c.5367A= (p.Glu1789=)
5g.37051817A>CCA359509713NIPBLc.6993A>C (p.Glu2331Asp)
n.875A>C
c.1-12761A>C (n.1-12761A>C)
c.6249A>C (p.Glu2083Asp)
c.6795A>C (p.Glu2265Asp)
c.6612A>C (p.Glu2204Asp)
c.6333A>C (p.Glu2111Asp)
c.5376A>C (p.Glu1792Asp)
c.5367A>C (p.Glu1789Asp)
5g.37051817A>GCA272274NIPBLc.6993A>G (p.Glu2331=)
n.875A>G
c.1-12761A>G (n.1-12761A>G)
c.6249A>G (p.Glu2083=)
c.6795A>G (p.Glu2265=)
c.6612A>G (p.Glu2204=)
c.6333A>G (p.Glu2111=)
c.5376A>G (p.Glu1792=)
c.5367A>G (p.Glu1789=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.37051817A>TCA359509712NIPBLc.6993A>T (p.Glu2331Asp)
n.875A>T
c.1-12761A>T (n.1-12761A>T)
c.6249A>T (p.Glu2083Asp)
c.6795A>T (p.Glu2265Asp)
c.6612A>T (p.Glu2204Asp)
c.6333A>T (p.Glu2111Asp)
c.5376A>T (p.Glu1792Asp)
c.5367A>T (p.Glu1789Asp)
5g.37051818C>ACA359509714NIPBLc.6994C>A (p.Pro2332Thr)
n.876C>A
c.1-12760C>A (n.1-12760C>A)
c.6250C>A (p.Pro2084Thr)
c.6796C>A (p.Pro2266Thr)
c.6613C>A (p.Pro2205Thr)
c.6334C>A (p.Pro2112Thr)
c.5377C>A (p.Pro1793Thr)
c.5368C>A (p.Pro1790Thr)
5g.37051818C>GCA359509715NIPBLc.6994C>G (p.Pro2332Ala)
n.876C>G
c.1-12760C>G (n.1-12760C>G)
c.6250C>G (p.Pro2084Ala)
c.6796C>G (p.Pro2266Ala)
c.6613C>G (p.Pro2205Ala)
c.6334C>G (p.Pro2112Ala)
c.5377C>G (p.Pro1793Ala)
c.5368C>G (p.Pro1790Ala)
5g.37051818C>TCA359509716NIPBLc.6994C>T (p.Pro2332Ser)
n.876C>T
c.1-12760C>T (n.1-12760C>T)
c.6250C>T (p.Pro2084Ser)
c.6796C>T (p.Pro2266Ser)
c.6613C>T (p.Pro2205Ser)
c.6334C>T (p.Pro2112Ser)
c.5377C>T (p.Pro1793Ser)
c.5368C>T (p.Pro1790Ser)
5g.37051819C>ACA359509717NIPBLc.6995C>A (p.Pro2332His)
n.877C>A
c.1-12759C>A (n.1-12759C>A)
c.6251C>A (p.Pro2084His)
c.6797C>A (p.Pro2266His)
c.6614C>A (p.Pro2205His)
c.6335C>A (p.Pro2112His)
c.5378C>A (p.Pro1793His)
c.5369C>A (p.Pro1790His)
5g.37051819C=CA1539571380NIPBLc.6995C= (p.Pro2332=)
n.877C=
c.1-12759C= (n.1-12759C=)
c.6251C= (p.Pro2084=)
c.6797C= (p.Pro2266=)
c.6614C= (p.Pro2205=)
c.6335C= (p.Pro2112=)
c.5378C= (p.Pro1793=)
c.5369C= (p.Pro1790=)
5g.37051819C>GCA359509718NIPBLc.6995C>G (p.Pro2332Arg)
n.877C>G
c.1-12759C>G (n.1-12759C>G)
c.6251C>G (p.Pro2084Arg)
c.6797C>G (p.Pro2266Arg)
c.6614C>G (p.Pro2205Arg)
c.6335C>G (p.Pro2112Arg)
c.5378C>G (p.Pro1793Arg)
c.5369C>G (p.Pro1790Arg)
5g.37051819C>TCA359509724NIPBLc.6995C>T (p.Pro2332Leu)
n.877C>T
c.1-12759C>T (n.1-12759C>T)
c.6251C>T (p.Pro2084Leu)
c.6797C>T (p.Pro2266Leu)
c.6614C>T (p.Pro2205Leu)
c.6335C>T (p.Pro2112Leu)
c.5378C>T (p.Pro1793Leu)
c.5369C>T (p.Pro1790Leu)
 dbSNP
5g.37051820T>ACA443909537NIPBLc.6996T>A (p.Pro2332=)
n.878T>A
c.1-12758T>A (n.1-12758T>A)
c.6252T>A (p.Pro2084=)
c.6798T>A (p.Pro2266=)
c.6615T>A (p.Pro2205=)
c.6336T>A (p.Pro2112=)
c.5379T>A (p.Pro1793=)
c.5370T>A (p.Pro1790=)
5g.37051820T>CCA443909539NIPBLc.6996T>C (p.Pro2332=)
n.878T>C
c.1-12758T>C (n.1-12758T>C)
c.6252T>C (p.Pro2084=)
c.6798T>C (p.Pro2266=)
c.6615T>C (p.Pro2205=)
c.6336T>C (p.Pro2112=)
c.5379T>C (p.Pro1793=)
c.5370T>C (p.Pro1790=)
5g.37051820T>GCA443909541NIPBLc.6996T>G (p.Pro2332=)
n.878T>G
c.1-12758T>G (n.1-12758T>G)
c.6252T>G (p.Pro2084=)
c.6798T>G (p.Pro2266=)
c.6615T>G (p.Pro2205=)
c.6336T>G (p.Pro2112=)
c.5379T>G (p.Pro1793=)
c.5370T>G (p.Pro1790=)
5g.37051821G>ACA359509727NIPBLc.6997G>A (p.Ala2333Thr)
n.879G>A
c.1-12757G>A (n.1-12757G>A)
c.6253G>A (p.Ala2085Thr)
c.6799G>A (p.Ala2267Thr)
c.6616G>A (p.Ala2206Thr)
c.6337G>A (p.Ala2113Thr)
c.5380G>A (p.Ala1794Thr)
c.5371G>A (p.Ala1791Thr)
5g.37051821G>CCA359509729NIPBLc.6997G>C (p.Ala2333Pro)
n.879G>C
c.1-12757G>C (n.1-12757G>C)
c.6253G>C (p.Ala2085Pro)
c.6799G>C (p.Ala2267Pro)
c.6616G>C (p.Ala2206Pro)
c.6337G>C (p.Ala2113Pro)
c.5380G>C (p.Ala1794Pro)
c.5371G>C (p.Ala1791Pro)
5g.37051821G>TCA359509731NIPBLc.6997G>T (p.Ala2333Ser)
n.879G>T
c.1-12757G>T (n.1-12757G>T)
c.6253G>T (p.Ala2085Ser)
c.6799G>T (p.Ala2267Ser)
c.6616G>T (p.Ala2206Ser)
c.6337G>T (p.Ala2113Ser)
c.5380G>T (p.Ala1794Ser)
c.5371G>T (p.Ala1791Ser)
5g.37051821_37051822delinsGCCA1539571384NIPBLc.6997_6998delinsGC (p.Ala2333=)
n.879_880delinsGC
c.1-12757_1-12756delinsGC (n.1-12757_1-12756delinsGC)
c.6253_6254delinsGC (p.Ala2085=)
c.6799_6800delinsGC (p.Ala2267=)
c.6616_6617delinsGC (p.Ala2206=)
c.6337_6338delinsGC (p.Ala2113=)
c.5380_5381delinsGC (p.Ala1794=)
c.5371_5372delinsGC (p.Ala1791=)
5g.37051822delCA891842688NIPBLc.6998del (p.Ala2333ValfsTer13)
n.880del
c.1-12756del (n.1-12756del)
c.6254del (p.Ala2085ValfsTer13)
c.6800del (p.Ala2267ValfsTer13)
c.6617del (p.Ala2206ValfsTer13)
c.6338del (p.Ala2113ValfsTer13)
c.5381del (p.Ala1794ValfsTer13)
c.5372del (p.Ala1791ValfsTer13)
 ClinVar dbSNP
5g.37051822C>ACA359509733NIPBLc.6998C>A (p.Ala2333Asp)
n.880C>A
c.1-12756C>A (n.1-12756C>A)
c.6254C>A (p.Ala2085Asp)
c.6800C>A (p.Ala2267Asp)
c.6617C>A (p.Ala2206Asp)
c.6338C>A (p.Ala2113Asp)
c.5381C>A (p.Ala1794Asp)
c.5372C>A (p.Ala1791Asp)
5g.37051822C>GCA359509750NIPBLc.6998C>G (p.Ala2333Gly)
n.880C>G
c.1-12756C>G (n.1-12756C>G)
c.6254C>G (p.Ala2085Gly)
c.6800C>G (p.Ala2267Gly)
c.6617C>G (p.Ala2206Gly)
c.6338C>G (p.Ala2113Gly)
c.5381C>G (p.Ala1794Gly)
c.5372C>G (p.Ala1791Gly)
5g.37051822C>TCA359509753NIPBLc.6998C>T (p.Ala2333Val)
n.880C>T
c.1-12756C>T (n.1-12756C>T)
c.6254C>T (p.Ala2085Val)
c.6800C>T (p.Ala2267Val)
c.6617C>T (p.Ala2206Val)
c.6338C>T (p.Ala2113Val)
c.5381C>T (p.Ala1794Val)
c.5372C>T (p.Ala1791Val)
5g.37051823T>ACA443909554NIPBLc.6999T>A (p.Ala2333=)
n.881T>A
c.1-12755T>A (n.1-12755T>A)
c.6255T>A (p.Ala2085=)
c.6801T>A (p.Ala2267=)
c.6618T>A (p.Ala2206=)
c.6339T>A (p.Ala2113=)
c.5382T>A (p.Ala1794=)
c.5373T>A (p.Ala1791=)
5g.37051823T>CCA443909556NIPBLc.6999T>C (p.Ala2333=)
n.881T>C
c.1-12755T>C (n.1-12755T>C)
c.6255T>C (p.Ala2085=)
c.6801T>C (p.Ala2267=)
c.6618T>C (p.Ala2206=)
c.6339T>C (p.Ala2113=)
c.5382T>C (p.Ala1794=)
c.5373T>C (p.Ala1791=)
 gnomAD v4
5g.37051823T>GCA443909558NIPBLc.6999T>G (p.Ala2333=)
n.881T>G
c.1-12755T>G (n.1-12755T>G)
c.6255T>G (p.Ala2085=)
c.6801T>G (p.Ala2267=)
c.6618T>G (p.Ala2206=)
c.6339T>G (p.Ala2113=)
c.5382T>G (p.Ala1794=)
c.5373T>G (p.Ala1791=)
5g.37051824A=CA1539571394NIPBLc.7000A= (p.Met2334=)
n.882A=
c.1-12754A= (n.1-12754A=)
c.6256A= (p.Met2086=)
c.6802A= (p.Met2268=)
c.6619A= (p.Met2207=)
c.6340A= (p.Met2114=)
c.5383A= (p.Met1795=)
c.5374A= (p.Met1792=)
5g.37051824A>CCA359510372NIPBLc.7000A>C (p.Met2334Leu)
n.882A>C
c.1-12754A>C (n.1-12754A>C)
c.6256A>C (p.Met2086Leu)
c.6802A>C (p.Met2268Leu)
c.6619A>C (p.Met2207Leu)
c.6340A>C (p.Met2114Leu)
c.5383A>C (p.Met1795Leu)
c.5374A>C (p.Met1792Leu)
5g.37051824A>GCA117051025NIPBLc.7000A>G (p.Met2334Val)
n.882A>G
c.1-12754A>G (n.1-12754A>G)
c.6256A>G (p.Met2086Val)
c.6802A>G (p.Met2268Val)
c.6619A>G (p.Met2207Val)
c.6340A>G (p.Met2114Val)
c.5383A>G (p.Met1795Val)
c.5374A>G (p.Met1792Val)
 dbSNP gnomAD v3 gnomAD v4
5g.37051824A>TCA359510374NIPBLc.7000A>T (p.Met2334Leu)
n.882A>T
c.1-12754A>T (n.1-12754A>T)
c.6256A>T (p.Met2086Leu)
c.6802A>T (p.Met2268Leu)
c.6619A>T (p.Met2207Leu)
c.6340A>T (p.Met2114Leu)
c.5383A>T (p.Met1795Leu)
c.5374A>T (p.Met1792Leu)
5g.37051825T>ACA359510377NIPBLc.7001T>A (p.Met2334Lys)
n.883T>A
c.1-12753T>A (n.1-12753T>A)
c.6257T>A (p.Met2086Lys)
c.6803T>A (p.Met2268Lys)
c.6620T>A (p.Met2207Lys)
c.6341T>A (p.Met2114Lys)
c.5384T>A (p.Met1795Lys)
c.5375T>A (p.Met1792Lys)
5g.37051825T>CCA3237111NIPBLc.7001T>C (p.Met2334Thr)
n.883T>C
c.1-12753T>C (n.1-12753T>C)
c.6257T>C (p.Met2086Thr)
c.6803T>C (p.Met2268Thr)
c.6620T>C (p.Met2207Thr)
c.6341T>C (p.Met2114Thr)
c.5384T>C (p.Met1795Thr)
c.5375T>C (p.Met1792Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37051825T>GCA359510385NIPBLc.7001T>G (p.Met2334Arg)
n.883T>G
c.1-12753T>G (n.1-12753T>G)
c.6257T>G (p.Met2086Arg)
c.6803T>G (p.Met2268Arg)
c.6620T>G (p.Met2207Arg)
c.6341T>G (p.Met2114Arg)
c.5384T>G (p.Met1795Arg)
c.5375T>G (p.Met1792Arg)
5g.37051825T=CA1539571397NIPBLc.7001T= (p.Met2334=)
n.883T=
c.1-12753T= (n.1-12753T=)
c.6257T= (p.Met2086=)
c.6803T= (p.Met2268=)
c.6620T= (p.Met2207=)
c.6341T= (p.Met2114=)
c.5384T= (p.Met1795=)
c.5375T= (p.Met1792=)
5g.37051826G>ACA359510387NIPBLc.7002G>A (p.Met2334Ile)
n.884G>A
c.1-12752G>A (n.1-12752G>A)
c.6258G>A (p.Met2086Ile)
c.6804G>A (p.Met2268Ile)
c.6621G>A (p.Met2207Ile)
c.6342G>A (p.Met2114Ile)
c.5385G>A (p.Met1795Ile)
c.5376G>A (p.Met1792Ile)
5g.37051826G>CCA359510390NIPBLc.7002G>C (p.Met2334Ile)
n.884G>C
c.1-12752G>C (n.1-12752G>C)
c.6258G>C (p.Met2086Ile)
c.6804G>C (p.Met2268Ile)
c.6621G>C (p.Met2207Ile)
c.6342G>C (p.Met2114Ile)
c.5385G>C (p.Met1795Ile)
c.5376G>C (p.Met1792Ile)
5g.37051826G>TCA359510395NIPBLc.7002G>T (p.Met2334Ile)
n.884G>T
c.1-12752G>T (n.1-12752G>T)
c.6258G>T (p.Met2086Ile)
c.6804G>T (p.Met2268Ile)
c.6621G>T (p.Met2207Ile)
c.6342G>T (p.Met2114Ile)
c.5385G>T (p.Met1795Ile)
c.5376G>T (p.Met1792Ile)
5g.37051827C>ACA443909994NIPBLc.7003C>A (p.Arg2335=)
n.885C>A
c.1-12751C>A (n.1-12751C>A)
c.6259C>A (p.Arg2087=)
c.6805C>A (p.Arg2269=)
c.6622C>A (p.Arg2208=)
c.6343C>A (p.Arg2115=)
c.5386C>A (p.Arg1796=)
c.5377C>A (p.Arg1793=)
 gnomAD v4
5g.37051827C=CA1539571398NIPBLc.7003C= (p.Arg2335=)
n.885C=
c.1-12751C= (n.1-12751C=)
c.6259C= (p.Arg2087=)
c.6805C= (p.Arg2269=)
c.6622C= (p.Arg2208=)
c.6343C= (p.Arg2115=)
c.5386C= (p.Arg1796=)
c.5377C= (p.Arg1793=)
5g.37051827C>GCA359510400NIPBLc.7003C>G (p.Arg2335Gly)
n.885C>G
c.1-12751C>G (n.1-12751C>G)
c.6259C>G (p.Arg2087Gly)
c.6805C>G (p.Arg2269Gly)
c.6622C>G (p.Arg2208Gly)
c.6343C>G (p.Arg2115Gly)
c.5386C>G (p.Arg1796Gly)
c.5377C>G (p.Arg1793Gly)
5g.37051827C>TCA117051038NIPBLc.7003C>T (p.Arg2335Trp)
n.885C>T
c.1-12751C>T (n.1-12751C>T)
c.6259C>T (p.Arg2087Trp)
c.6805C>T (p.Arg2269Trp)
c.6622C>T (p.Arg2208Trp)
c.6343C>T (p.Arg2115Trp)
c.5386C>T (p.Arg1796Trp)
c.5377C>T (p.Arg1793Trp)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.37051828G>ACA359510403NIPBLc.7004G>A (p.Arg2335Gln)
n.886G>A
c.1-12750G>A (n.1-12750G>A)
c.6260G>A (p.Arg2087Gln)
c.6806G>A (p.Arg2269Gln)
c.6623G>A (p.Arg2208Gln)
c.6344G>A (p.Arg2115Gln)
c.5387G>A (p.Arg1796Gln)
c.5378G>A (p.Arg1793Gln)
 dbSNP gnomAD v3 gnomAD v4
5g.37051828G>CCA359510410NIPBLc.7004G>C (p.Arg2335Pro)
n.886G>C
c.1-12750G>C (n.1-12750G>C)
c.6260G>C (p.Arg2087Pro)
c.6806G>C (p.Arg2269Pro)
c.6623G>C (p.Arg2208Pro)
c.6344G>C (p.Arg2115Pro)
c.5387G>C (p.Arg1796Pro)
c.5378G>C (p.Arg1793Pro)
 dbSNP gnomAD v2 gnomAD v4
5g.37051828G=CA1539571401NIPBLc.7004G= (p.Arg2335=)
n.886G=
c.1-12750G= (n.1-12750G=)
c.6260G= (p.Arg2087=)
c.6806G= (p.Arg2269=)
c.6623G= (p.Arg2208=)
c.6344G= (p.Arg2115=)
c.5387G= (p.Arg1796=)
c.5378G= (p.Arg1793=)
5g.37051828G>TCA359510413NIPBLc.7004G>T (p.Arg2335Leu)
n.886G>T
c.1-12750G>T (n.1-12750G>T)
c.6260G>T (p.Arg2087Leu)
c.6806G>T (p.Arg2269Leu)
c.6623G>T (p.Arg2208Leu)
c.6344G>T (p.Arg2115Leu)
c.5387G>T (p.Arg1796Leu)
c.5378G>T (p.Arg1793Leu)
5g.37051829G>ACA3237112NIPBLc.7005G>A (p.Arg2335=)
n.887G>A
c.1-12749G>A (n.1-12749G>A)
c.6261G>A (p.Arg2087=)
c.6807G>A (p.Arg2269=)
c.6624G>A (p.Arg2208=)
c.6345G>A (p.Arg2115=)
c.5388G>A (p.Arg1796=)
c.5379G>A (p.Arg1793=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37051829G>CCA443910005NIPBLc.7005G>C (p.Arg2335=)
n.887G>C
c.1-12749G>C (n.1-12749G>C)
c.6261G>C (p.Arg2087=)
c.6807G>C (p.Arg2269=)
c.6624G>C (p.Arg2208=)
c.6345G>C (p.Arg2115=)
c.5388G>C (p.Arg1796=)
c.5379G>C (p.Arg1793=)
5g.37051829G=CA1539571403NIPBLc.7005G= (p.Arg2335=)
n.887G=
c.1-12749G= (n.1-12749G=)
c.6261G= (p.Arg2087=)
c.6807G= (p.Arg2269=)
c.6624G= (p.Arg2208=)
c.6345G= (p.Arg2115=)
c.5388G= (p.Arg1796=)
c.5379G= (p.Arg1793=)
5g.37051829G>TCA443910007NIPBLc.7005G>T (p.Arg2335=)
n.887G>T
c.1-12749G>T (n.1-12749G>T)
c.6261G>T (p.Arg2087=)
c.6807G>T (p.Arg2269=)
c.6624G>T (p.Arg2208=)
c.6345G>T (p.Arg2115=)
c.5388G>T (p.Arg1796=)
c.5379G>T (p.Arg1793=)
5g.37051830A=CA1539571406NIPBLc.7006A= (p.Asn2336=)
n.888A=
c.1-12748A= (n.1-12748A=)
c.6262A= (p.Asn2088=)
c.6808A= (p.Asn2270=)
c.6625A= (p.Asn2209=)
c.6346A= (p.Asn2116=)
c.5389A= (p.Asn1797=)
c.5380A= (p.Asn1794=)
5g.37051830A>CCA359510418NIPBLc.7006A>C (p.Asn2336His)
n.888A>C
c.1-12748A>C (n.1-12748A>C)
c.6262A>C (p.Asn2088His)
c.6808A>C (p.Asn2270His)
c.6625A>C (p.Asn2209His)
c.6346A>C (p.Asn2116His)
c.5389A>C (p.Asn1797His)
c.5380A>C (p.Asn1794His)
5g.37051830A>GCA359510416NIPBLc.7006A>G (p.Asn2336Asp)
n.888A>G
c.1-12748A>G (n.1-12748A>G)
c.6262A>G (p.Asn2088Asp)
c.6808A>G (p.Asn2270Asp)
c.6625A>G (p.Asn2209Asp)
c.6346A>G (p.Asn2116Asp)
c.5389A>G (p.Asn1797Asp)
c.5380A>G (p.Asn1794Asp)
5g.37051830A>TCA359510417NIPBLc.7006A>T (p.Asn2336Tyr)
n.888A>T
c.1-12748A>T (n.1-12748A>T)
c.6262A>T (p.Asn2088Tyr)
c.6808A>T (p.Asn2270Tyr)
c.6625A>T (p.Asn2209Tyr)
c.6346A>T (p.Asn2116Tyr)
c.5389A>T (p.Asn1797Tyr)
c.5380A>T (p.Asn1794Tyr)
 dbSNP gnomAD v2 gnomAD v4
5g.37051831A>CCA359510419NIPBLc.7007A>C (p.Asn2336Thr)
n.889A>C
c.1-12747A>C (n.1-12747A>C)
c.6263A>C (p.Asn2088Thr)
c.6809A>C (p.Asn2270Thr)
c.6626A>C (p.Asn2209Thr)
c.6347A>C (p.Asn2116Thr)
c.5390A>C (p.Asn1797Thr)
c.5381A>C (p.Asn1794Thr)
5g.37051831A>GCA359510422NIPBLc.7007A>G (p.Asn2336Ser)
n.889A>G
c.1-12747A>G (n.1-12747A>G)
c.6263A>G (p.Asn2088Ser)
c.6809A>G (p.Asn2270Ser)
c.6626A>G (p.Asn2209Ser)
c.6347A>G (p.Asn2116Ser)
c.5390A>G (p.Asn1797Ser)
c.5381A>G (p.Asn1794Ser)
5g.37051831A>TCA359510425NIPBLc.7007A>T (p.Asn2336Ile)
n.889A>T
c.1-12747A>T (n.1-12747A>T)
c.6263A>T (p.Asn2088Ile)
c.6809A>T (p.Asn2270Ile)
c.6626A>T (p.Asn2209Ile)
c.6347A>T (p.Asn2116Ile)
c.5390A>T (p.Asn1797Ile)
c.5381A>T (p.Asn1794Ile)
5g.37051832C>ACA359510429NIPBLc.7008C>A (p.Asn2336Lys)
n.890C>A
c.1-12746C>A (n.1-12746C>A)
c.6264C>A (p.Asn2088Lys)
c.6810C>A (p.Asn2270Lys)
c.6627C>A (p.Asn2209Lys)
c.6348C>A (p.Asn2116Lys)
c.5391C>A (p.Asn1797Lys)
c.5382C>A (p.Asn1794Lys)
 ClinVar
5g.37051832C=CA1539571409NIPBLc.7008C= (p.Asn2336=)
n.890C=
c.1-12746C= (n.1-12746C=)
c.6264C= (p.Asn2088=)
c.6810C= (p.Asn2270=)
c.6627C= (p.Asn2209=)
c.6348C= (p.Asn2116=)
c.5391C= (p.Asn1797=)
c.5382C= (p.Asn1794=)
5g.37051832C>GCA359510442NIPBLc.7008C>G (p.Asn2336Lys)
n.890C>G
c.1-12746C>G (n.1-12746C>G)
c.6264C>G (p.Asn2088Lys)
c.6810C>G (p.Asn2270Lys)
c.6627C>G (p.Asn2209Lys)
c.6348C>G (p.Asn2116Lys)
c.5391C>G (p.Asn1797Lys)
c.5382C>G (p.Asn1794Lys)
5g.37051832C>TCA443910021NIPBLc.7008C>T (p.Asn2336=)
n.890C>T
c.1-12746C>T (n.1-12746C>T)
c.6264C>T (p.Asn2088=)
c.6810C>T (p.Asn2270=)
c.6627C>T (p.Asn2209=)
c.6348C>T (p.Asn2116=)
c.5391C>T (p.Asn1797=)
c.5382C>T (p.Asn1794=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
5g.37051833A>CCA359510446NIPBLc.7009A>C (p.Lys2337Gln)
n.891A>C
c.1-12745A>C (n.1-12745A>C)
c.6265A>C (p.Lys2089Gln)
c.6811A>C (p.Lys2271Gln)
c.6628A>C (p.Lys2210Gln)
c.6349A>C (p.Lys2117Gln)
c.5392A>C (p.Lys1798Gln)
c.5383A>C (p.Lys1795Gln)
5g.37051833A>GCA359510449NIPBLc.7009A>G (p.Lys2337Glu)
n.891A>G
c.1-12745A>G (n.1-12745A>G)
c.6265A>G (p.Lys2089Glu)
c.6811A>G (p.Lys2271Glu)
c.6628A>G (p.Lys2210Glu)
c.6349A>G (p.Lys2117Glu)
c.5392A>G (p.Lys1798Glu)
c.5383A>G (p.Lys1795Glu)
5g.37051833A>TCA359510452NIPBLc.7009A>T (p.Lys2337Ter)
n.891A>T
c.1-12745A>T (n.1-12745A>T)
c.6265A>T (p.Lys2089Ter)
c.6811A>T (p.Lys2271Ter)
c.6628A>T (p.Lys2210Ter)
c.6349A>T (p.Lys2117Ter)
c.5392A>T (p.Lys1798Ter)
c.5383A>T (p.Lys1795Ter)
5g.37051834A>CCA359510463NIPBLc.7010A>C (p.Lys2337Thr)
n.892A>C
c.1-12744A>C (n.1-12744A>C)
c.6266A>C (p.Lys2089Thr)
c.6812A>C (p.Lys2271Thr)
c.6629A>C (p.Lys2210Thr)
c.6350A>C (p.Lys2117Thr)
c.5393A>C (p.Lys1798Thr)
c.5384A>C (p.Lys1795Thr)
5g.37051834A>GCA359510474NIPBLc.7010A>G (p.Lys2337Arg)
n.892A>G
c.1-12744A>G (n.1-12744A>G)
c.6266A>G (p.Lys2089Arg)
c.6812A>G (p.Lys2271Arg)
c.6629A>G (p.Lys2210Arg)
c.6350A>G (p.Lys2117Arg)
c.5393A>G (p.Lys1798Arg)
c.5384A>G (p.Lys1795Arg)
5g.37051834A>TCA359510478NIPBLc.7010A>T (p.Lys2337Met)
n.892A>T
c.1-12744A>T (n.1-12744A>T)
c.6266A>T (p.Lys2089Met)
c.6812A>T (p.Lys2271Met)
c.6629A>T (p.Lys2210Met)
c.6350A>T (p.Lys2117Met)
c.5393A>T (p.Lys1798Met)
c.5384A>T (p.Lys1795Met)
5g.37051834_37051836delinsAGGCA1539571414NIPBLc.7010_7012delinsAGG (p.Lys2337=)
n.892_894delinsAGG
c.1-12744_1-12742delinsAGG (n.1-12744_1-12742delinsAGG)
c.6266_6268delinsAGG (p.Lys2089=)
c.6812_6814delinsAGG (p.Lys2271=)
c.6629_6631delinsAGG (p.Lys2210=)
c.6350_6352delinsAGG (p.Lys2117=)
c.5393_5395delinsAGG (p.Lys1798=)
c.5384_5386delinsAGG (p.Lys1795=)
5g.37051835G>ACA443910033NIPBLc.7011G>A (p.Lys2337=)
n.893G>A
c.1-12743G>A (n.1-12743G>A)
c.6267G>A (p.Lys2089=)
c.6813G>A (p.Lys2271=)
c.6630G>A (p.Lys2210=)
c.6351G>A (p.Lys2117=)
c.5394G>A (p.Lys1798=)
c.5385G>A (p.Lys1795=)
5g.37051835G>CCA359510483NIPBLc.7011G>C (p.Lys2337Asn)
n.893G>C
c.1-12743G>C (n.1-12743G>C)
c.6267G>C (p.Lys2089Asn)
c.6813G>C (p.Lys2271Asn)
c.6630G>C (p.Lys2210Asn)
c.6351G>C (p.Lys2117Asn)
c.5394G>C (p.Lys1798Asn)
c.5385G>C (p.Lys1795Asn)
5g.37051835G>TCA359510481NIPBLc.7011G>T (p.Lys2337Asn)
n.893G>T
c.1-12743G>T (n.1-12743G>T)
c.6267G>T (p.Lys2089Asn)
c.6813G>T (p.Lys2271Asn)
c.6630G>T (p.Lys2210Asn)
c.6351G>T (p.Lys2117Asn)
c.5394G>T (p.Lys1798Asn)
c.5385G>T (p.Lys1795Asn)
5g.37051835_37051836delCA272277NIPBLc.7011_7012del (p.Lys2337AsnfsTer2)
n.893_894del
c.1-12743_1-12742del (n.1-12743_1-12742del)
c.6267_6268del (p.Lys2089AsnfsTer2)
c.6813_6814del (p.Lys2271AsnfsTer2)
c.6630_6631del (p.Lys2210AsnfsTer2)
c.6351_6352del (p.Lys2117AsnfsTer2)
c.5394_5395del (p.Lys1798AsnfsTer2)
c.5385_5386del (p.Lys1795AsnfsTer2)
 ClinVar dbSNP
5g.37051836G>ACA359510486NIPBLc.7012G>A (p.Ala2338Thr)
n.894G>A
c.1-12742G>A (n.1-12742G>A)
c.6268G>A (p.Ala2090Thr)
c.6814G>A (p.Ala2272Thr)
c.6631G>A (p.Ala2211Thr)
c.6352G>A (p.Ala2118Thr)
c.5395G>A (p.Ala1799Thr)
c.5386G>A (p.Ala1796Thr)
5g.37051836G>CCA272278NIPBLc.7012G>C (p.Ala2338Pro)
n.894G>C
c.1-12742G>C (n.1-12742G>C)
c.6268G>C (p.Ala2090Pro)
c.6814G>C (p.Ala2272Pro)
c.6631G>C (p.Ala2211Pro)
c.6352G>C (p.Ala2118Pro)
c.5395G>C (p.Ala1799Pro)
c.5386G>C (p.Ala1796Pro)
 ClinVar dbSNP
5g.37051836G=CA1539571427NIPBLc.7012G= (p.Ala2338=)
n.894G=
c.1-12742G= (n.1-12742G=)
c.6268G= (p.Ala2090=)
c.6814G= (p.Ala2272=)
c.6631G= (p.Ala2211=)
c.6352G= (p.Ala2118=)
c.5395G= (p.Ala1799=)
c.5386G= (p.Ala1796=)
5g.37051836G>TCA359510488NIPBLc.7012G>T (p.Ala2338Ser)
n.894G>T
c.1-12742G>T (n.1-12742G>T)
c.6268G>T (p.Ala2090Ser)
c.6814G>T (p.Ala2272Ser)
c.6631G>T (p.Ala2211Ser)
c.6352G>T (p.Ala2118Ser)
c.5395G>T (p.Ala1799Ser)
c.5386G>T (p.Ala1796Ser)
 dbSNP gnomAD v2
5g.37051837delCA2499217845NIPBLc.7013del (p.Ala2338ValfsTer8)
n.895del
c.1-12741del (n.1-12741del)
c.6269del (p.Ala2090ValfsTer8)
c.6815del (p.Ala2272ValfsTer8)
c.6632del (p.Ala2211ValfsTer8)
c.6353del (p.Ala2118ValfsTer8)
c.5396del (p.Ala1799ValfsTer8)
c.5387del (p.Ala1796ValfsTer8)
 ClinVar dbSNP
5g.37051837C>ACA359510493NIPBLc.7013C>A (p.Ala2338Asp)
n.895C>A
c.1-12741C>A (n.1-12741C>A)
c.6269C>A (p.Ala2090Asp)
c.6815C>A (p.Ala2272Asp)
c.6632C>A (p.Ala2211Asp)
c.6353C>A (p.Ala2118Asp)
c.5396C>A (p.Ala1799Asp)
c.5387C>A (p.Ala1796Asp)
5g.37051837C>GCA359510497NIPBLc.7013C>G (p.Ala2338Gly)
n.895C>G
c.1-12741C>G (n.1-12741C>G)
c.6269C>G (p.Ala2090Gly)
c.6815C>G (p.Ala2272Gly)
c.6632C>G (p.Ala2211Gly)
c.6353C>G (p.Ala2118Gly)
c.5396C>G (p.Ala1799Gly)
c.5387C>G (p.Ala1796Gly)
5g.37051837C>TCA359510500NIPBLc.7013C>T (p.Ala2338Val)
n.895C>T
c.1-12741C>T (n.1-12741C>T)
c.6269C>T (p.Ala2090Val)
c.6815C>T (p.Ala2272Val)
c.6632C>T (p.Ala2211Val)
c.6353C>T (p.Ala2118Val)
c.5396C>T (p.Ala1799Val)
c.5387C>T (p.Ala1796Val)
5g.37051838T>ACA3237113NIPBLc.7014T>A (p.Ala2338=)
n.896T>A
c.1-12740T>A (n.1-12740T>A)
c.6270T>A (p.Ala2090=)
c.6816T>A (p.Ala2272=)
c.6633T>A (p.Ala2211=)
c.6354T>A (p.Ala2118=)
c.5397T>A (p.Ala1799=)
c.5388T>A (p.Ala1796=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37051838T>CCA443910052NIPBLc.7014T>C (p.Ala2338=)
n.896T>C
c.1-12740T>C (n.1-12740T>C)
c.6270T>C (p.Ala2090=)
c.6816T>C (p.Ala2272=)
c.6633T>C (p.Ala2211=)
c.6354T>C (p.Ala2118=)
c.5397T>C (p.Ala1799=)
c.5388T>C (p.Ala1796=)
 gnomAD v4
5g.37051838T>GCA443910054NIPBLc.7014T>G (p.Ala2338=)
n.896T>G
c.1-12740T>G (n.1-12740T>G)
c.6270T>G (p.Ala2090=)
c.6816T>G (p.Ala2272=)
c.6633T>G (p.Ala2211=)
c.6354T>G (p.Ala2118=)
c.5397T>G (p.Ala1799=)
c.5388T>G (p.Ala1796=)
5g.37051838T=CA1539571433NIPBLc.7014T= (p.Ala2338=)
n.896T=
c.1-12740T= (n.1-12740T=)
c.6270T= (p.Ala2090=)
c.6816T= (p.Ala2272=)
c.6633T= (p.Ala2211=)
c.6354T= (p.Ala2118=)
c.5397T= (p.Ala1799=)
c.5388T= (p.Ala1796=)
5g.37051839G>ACA359510503NIPBLc.7015G>A (p.Asp2339Asn)
n.897G>A
c.1-12739G>A (n.1-12739G>A)
c.6271G>A (p.Asp2091Asn)
c.6817G>A (p.Asp2273Asn)
c.6634G>A (p.Asp2212Asn)
c.6355G>A (p.Asp2119Asn)
c.5398G>A (p.Asp1800Asn)
c.5389G>A (p.Asp1797Asn)
5g.37051839G>CCA359510506NIPBLc.7015G>C (p.Asp2339His)
n.897G>C
c.1-12739G>C (n.1-12739G>C)
c.6271G>C (p.Asp2091His)
c.6817G>C (p.Asp2273His)
c.6634G>C (p.Asp2212His)
c.6355G>C (p.Asp2119His)
c.5398G>C (p.Asp1800His)
c.5389G>C (p.Asp1797His)
 gnomAD v4
5g.37051839G>TCA359510508NIPBLc.7015G>T (p.Asp2339Tyr)
n.897G>T
c.1-12739G>T (n.1-12739G>T)
c.6271G>T (p.Asp2091Tyr)
c.6817G>T (p.Asp2273Tyr)
c.6634G>T (p.Asp2212Tyr)
c.6355G>T (p.Asp2119Tyr)
c.5398G>T (p.Asp1800Tyr)
c.5389G>T (p.Asp1797Tyr)
5g.37051839_37051848delCA2695204432NIPBLc.7015_7024del (p.Asp2339LeufsTer4)
n.897_906del
c.1-12739_1-12730del (n.1-12739_1-12730del)
c.6271_6280del (p.Asp2091LeufsTer4)
c.6817_6826del (p.Asp2273LeufsTer4)
c.6634_6643del (p.Asp2212LeufsTer4)
c.6355_6364del (p.Asp2119LeufsTer4)
c.5398_5407del (p.Asp1800LeufsTer4)
c.5389_5398del (p.Asp1797LeufsTer4)
5g.37051840A>CCA359510513NIPBLc.7016A>C (p.Asp2339Ala)
n.898A>C
c.1-12738A>C (n.1-12738A>C)
c.6272A>C (p.Asp2091Ala)
c.6818A>C (p.Asp2273Ala)
c.6635A>C (p.Asp2212Ala)
c.6356A>C (p.Asp2119Ala)
c.5399A>C (p.Asp1800Ala)
c.5390A>C (p.Asp1797Ala)
5g.37051840A>GCA359510516NIPBLc.7016A>G (p.Asp2339Gly)
n.898A>G
c.1-12738A>G (n.1-12738A>G)
c.6272A>G (p.Asp2091Gly)
c.6818A>G (p.Asp2273Gly)
c.6635A>G (p.Asp2212Gly)
c.6356A>G (p.Asp2119Gly)
c.5399A>G (p.Asp1800Gly)
c.5390A>G (p.Asp1797Gly)
5g.37051840A>TCA359510521NIPBLc.7016A>T (p.Asp2339Val)
n.898A>T
c.1-12738A>T (n.1-12738A>T)
c.6272A>T (p.Asp2091Val)
c.6818A>T (p.Asp2273Val)
c.6635A>T (p.Asp2212Val)
c.6356A>T (p.Asp2119Val)
c.5399A>T (p.Asp1800Val)
c.5390A>T (p.Asp1797Val)
5g.37051841T>ACA359510524NIPBLc.7017T>A (p.Asp2339Glu)
n.899T>A
c.1-12737T>A (n.1-12737T>A)
c.6273T>A (p.Asp2091Glu)
c.6819T>A (p.Asp2273Glu)
c.6636T>A (p.Asp2212Glu)
c.6357T>A (p.Asp2119Glu)
c.5400T>A (p.Asp1800Glu)
c.5391T>A (p.Asp1797Glu)
5g.37051841T>CCA443910065NIPBLc.7017T>C (p.Asp2339=)
n.899T>C
c.1-12737T>C (n.1-12737T>C)
c.6273T>C (p.Asp2091=)
c.6819T>C (p.Asp2273=)
c.6636T>C (p.Asp2212=)
c.6357T>C (p.Asp2119=)
c.5400T>C (p.Asp1800=)
c.5391T>C (p.Asp1797=)
 gnomAD v4
5g.37051841T>GCA359510527NIPBLc.7017T>G (p.Asp2339Glu)
n.899T>G
c.1-12737T>G (n.1-12737T>G)
c.6273T>G (p.Asp2091Glu)
c.6819T>G (p.Asp2273Glu)
c.6636T>G (p.Asp2212Glu)
c.6357T>G (p.Asp2119Glu)
c.5400T>G (p.Asp1800Glu)
c.5391T>G (p.Asp1797Glu)
5g.37051842C>ACA359510542NIPBLc.7018C>A (p.Gln2340Lys)
n.900C>A
c.1-12736C>A (n.1-12736C>A)
c.6274C>A (p.Gln2092Lys)
c.6820C>A (p.Gln2274Lys)
c.6637C>A (p.Gln2213Lys)
c.6358C>A (p.Gln2120Lys)
c.5401C>A (p.Gln1801Lys)
c.5392C>A (p.Gln1798Lys)
5g.37051842C>GCA359510536NIPBLc.7018C>G (p.Gln2340Glu)
n.900C>G
c.1-12736C>G (n.1-12736C>G)
c.6274C>G (p.Gln2092Glu)
c.6820C>G (p.Gln2274Glu)
c.6637C>G (p.Gln2213Glu)
c.6358C>G (p.Gln2120Glu)
c.5401C>G (p.Gln1801Glu)
c.5392C>G (p.Gln1798Glu)
5g.37051842C>TCA359510538NIPBLc.7018C>T (p.Gln2340Ter)
n.900C>T
c.1-12736C>T (n.1-12736C>T)
c.6274C>T (p.Gln2092Ter)
c.6820C>T (p.Gln2274Ter)
c.6637C>T (p.Gln2213Ter)
c.6358C>T (p.Gln2120Ter)
c.5401C>T (p.Gln1801Ter)
c.5392C>T (p.Gln1798Ter)
 COSMIC COSMIC
5g.37051843A=CA1539571436NIPBLc.7019A= (p.Gln2340=)
n.901A=
c.1-12735A= (n.1-12735A=)
c.6275A= (p.Gln2092=)
c.6821A= (p.Gln2274=)
c.6638A= (p.Gln2213=)
c.6359A= (p.Gln2120=)
c.5402A= (p.Gln1801=)
c.5393A= (p.Gln1798=)
5g.37051843A>CCA359510546NIPBLc.7019A>C (p.Gln2340Pro)
n.901A>C
c.1-12735A>C (n.1-12735A>C)
c.6275A>C (p.Gln2092Pro)
c.6821A>C (p.Gln2274Pro)
c.6638A>C (p.Gln2213Pro)
c.6359A>C (p.Gln2120Pro)
c.5402A>C (p.Gln1801Pro)
c.5393A>C (p.Gln1798Pro)
5g.37051843A>GCA359510550NIPBLc.7019A>G (p.Gln2340Arg)
n.901A>G
c.1-12735A>G (n.1-12735A>G)
c.6275A>G (p.Gln2092Arg)
c.6821A>G (p.Gln2274Arg)
c.6638A>G (p.Gln2213Arg)
c.6359A>G (p.Gln2120Arg)
c.5402A>G (p.Gln1801Arg)
c.5393A>G (p.Gln1798Arg)
5g.37051843A>TCA3237114NIPBLc.7019A>T (p.Gln2340Leu)
n.901A>T
c.1-12735A>T (n.1-12735A>T)
c.6275A>T (p.Gln2092Leu)
c.6821A>T (p.Gln2274Leu)
c.6638A>T (p.Gln2213Leu)
c.6359A>T (p.Gln2120Leu)
c.5402A>T (p.Gln1801Leu)
c.5393A>T (p.Gln1798Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37051844G>ACA443910077NIPBLc.7020G>A (p.Gln2340=)
n.902G>A
c.1-12734G>A (n.1-12734G>A)
c.6276G>A (p.Gln2092=)
c.6822G>A (p.Gln2274=)
c.6639G>A (p.Gln2213=)
c.6360G>A (p.Gln2120=)
c.5403G>A (p.Gln1801=)
c.5394G>A (p.Gln1798=)
5g.37051844G>CCA359510561NIPBLc.7020G>C (p.Gln2340His)
n.902G>C
c.1-12734G>C (n.1-12734G>C)
c.6276G>C (p.Gln2092His)
c.6822G>C (p.Gln2274His)
c.6639G>C (p.Gln2213His)
c.6360G>C (p.Gln2120His)
c.5403G>C (p.Gln1801His)
c.5394G>C (p.Gln1798His)
5g.37051844G>TCA359510564NIPBLc.7020G>T (p.Gln2340His)
n.902G>T
c.1-12734G>T (n.1-12734G>T)
c.6276G>T (p.Gln2092His)
c.6822G>T (p.Gln2274His)
c.6639G>T (p.Gln2213His)
c.6360G>T (p.Gln2120His)
c.5403G>T (p.Gln1801His)
c.5394G>T (p.Gln1798His)
5g.37051845C>ACA359510570NIPBLc.7021C>A (p.Gln2341Lys)
n.903C>A
c.1-12733C>A (n.1-12733C>A)
c.6277C>A (p.Gln2093Lys)
c.6823C>A (p.Gln2275Lys)
c.6640C>A (p.Gln2214Lys)
c.6361C>A (p.Gln2121Lys)
c.5404C>A (p.Gln1802Lys)
c.5395C>A (p.Gln1799Lys)
 gnomAD v4
5g.37051845C>GCA359510572NIPBLc.7021C>G (p.Gln2341Glu)
n.903C>G
c.1-12733C>G (n.1-12733C>G)
c.6277C>G (p.Gln2093Glu)
c.6823C>G (p.Gln2275Glu)
c.6640C>G (p.Gln2214Glu)
c.6361C>G (p.Gln2121Glu)
c.5404C>G (p.Gln1802Glu)
c.5395C>G (p.Gln1799Glu)
5g.37051845C>TCA359510606NIPBLc.7021C>T (p.Gln2341Ter)
n.903C>T
c.1-12733C>T (n.1-12733C>T)
c.6277C>T (p.Gln2093Ter)
c.6823C>T (p.Gln2275Ter)
c.6640C>T (p.Gln2214Ter)
c.6361C>T (p.Gln2121Ter)
c.5404C>T (p.Gln1802Ter)
c.5395C>T (p.Gln1799Ter)
5g.37051846A>CCA359510608NIPBLc.7022A>C (p.Gln2341Pro)
n.904A>C
c.1-12732A>C (n.1-12732A>C)
c.6278A>C (p.Gln2093Pro)
c.6824A>C (p.Gln2275Pro)
c.6641A>C (p.Gln2214Pro)
c.6362A>C (p.Gln2121Pro)
c.5405A>C (p.Gln1802Pro)
c.5396A>C (p.Gln1799Pro)
5g.37051846A>GCA359510611NIPBLc.7022A>G (p.Gln2341Arg)
n.904A>G
c.1-12732A>G (n.1-12732A>G)
c.6278A>G (p.Gln2093Arg)
c.6824A>G (p.Gln2275Arg)
c.6641A>G (p.Gln2214Arg)
c.6362A>G (p.Gln2121Arg)
c.5405A>G (p.Gln1802Arg)
c.5396A>G (p.Gln1799Arg)
5g.37051846A>TCA359510617NIPBLc.7022A>T (p.Gln2341Leu)
n.904A>T
c.1-12732A>T (n.1-12732A>T)
c.6278A>T (p.Gln2093Leu)
c.6824A>T (p.Gln2275Leu)
c.6641A>T (p.Gln2214Leu)
c.6362A>T (p.Gln2121Leu)
c.5405A>T (p.Gln1802Leu)
c.5396A>T (p.Gln1799Leu)
5g.37051847A=CA1539571442NIPBLc.7023A= (p.Gln2341=)
n.905A=
c.1-12731A= (n.1-12731A=)
c.6279A= (p.Gln2093=)
c.6825A= (p.Gln2275=)
c.6642A= (p.Gln2214=)
c.6363A= (p.Gln2121=)
c.5406A= (p.Gln1802=)
c.5397A= (p.Gln1799=)
5g.37051847A>CCA359510624NIPBLc.7023A>C (p.Gln2341His)
n.905A>C
c.1-12731A>C (n.1-12731A>C)
c.6279A>C (p.Gln2093His)
c.6825A>C (p.Gln2275His)
c.6642A>C (p.Gln2214His)
c.6363A>C (p.Gln2121His)
c.5406A>C (p.Gln1802His)
c.5397A>C (p.Gln1799His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37051847A>GCA3237115NIPBLc.7023A>G (p.Gln2341=)
n.905A>G
c.1-12731A>G (n.1-12731A>G)
c.6279A>G (p.Gln2093=)
c.6825A>G (p.Gln2275=)
c.6642A>G (p.Gln2214=)
c.6363A>G (p.Gln2121=)
c.5406A>G (p.Gln1802=)
c.5397A>G (p.Gln1799=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37051847A>TCA359510620NIPBLc.7023A>T (p.Gln2341His)
n.905A>T
c.1-12731A>T (n.1-12731A>T)
c.6279A>T (p.Gln2093His)
c.6825A>T (p.Gln2275His)
c.6642A>T (p.Gln2214His)
c.6363A>T (p.Gln2121His)
c.5406A>T (p.Gln1802His)
c.5397A>T (p.Gln1799His)
5g.37051848C>ACA359510627NIPBLc.7024C>A (p.Leu2342Ile)
n.906C>A
c.1-12730C>A (n.1-12730C>A)
c.6280C>A (p.Leu2094Ile)
c.6826C>A (p.Leu2276Ile)
c.6643C>A (p.Leu2215Ile)
c.6364C>A (p.Leu2122Ile)
c.5407C>A (p.Leu1803Ile)
c.5398C>A (p.Leu1800Ile)
5g.37051848C=CA1539571446NIPBLc.7024C= (p.Leu2342=)
n.906C=
c.1-12730C= (n.1-12730C=)
c.6280C= (p.Leu2094=)
c.6826C= (p.Leu2276=)
c.6643C= (p.Leu2215=)
c.6364C= (p.Leu2122=)
c.5407C= (p.Leu1803=)
c.5398C= (p.Leu1800=)
5g.37051848C>GCA359510631NIPBLc.7024C>G (p.Leu2342Val)
n.906C>G
c.1-12730C>G (n.1-12730C>G)
c.6280C>G (p.Leu2094Val)
c.6826C>G (p.Leu2276Val)
c.6643C>G (p.Leu2215Val)
c.6364C>G (p.Leu2122Val)
c.5407C>G (p.Leu1803Val)
c.5398C>G (p.Leu1800Val)
5g.37051848C>TCA272281NIPBLc.7024C>T (p.Leu2342Phe)
n.906C>T
c.1-12730C>T (n.1-12730C>T)
c.6280C>T (p.Leu2094Phe)
c.6826C>T (p.Leu2276Phe)
c.6643C>T (p.Leu2215Phe)
c.6364C>T (p.Leu2122Phe)
c.5407C>T (p.Leu1803Phe)
c.5398C>T (p.Leu1800Phe)
 ClinVar dbSNP
5g.37051849T>ACA359510640NIPBLc.7025T>A (p.Leu2342His)
n.907T>A
c.1-12729T>A (n.1-12729T>A)
c.6281T>A (p.Leu2094His)
c.6827T>A (p.Leu2276His)
c.6644T>A (p.Leu2215His)
c.6365T>A (p.Leu2122His)
c.5408T>A (p.Leu1803His)
c.5399T>A (p.Leu1800His)
5g.37051849T>CCA359510642NIPBLc.7025T>C (p.Leu2342Pro)
n.907T>C
c.1-12729T>C (n.1-12729T>C)
c.6281T>C (p.Leu2094Pro)
c.6827T>C (p.Leu2276Pro)
c.6644T>C (p.Leu2215Pro)
c.6365T>C (p.Leu2122Pro)
c.5408T>C (p.Leu1803Pro)
c.5399T>C (p.Leu1800Pro)
5g.37051849T>GCA359510650NIPBLc.7025T>G (p.Leu2342Arg)
n.907T>G
c.1-12729T>G (n.1-12729T>G)
c.6281T>G (p.Leu2094Arg)
c.6827T>G (p.Leu2276Arg)
c.6644T>G (p.Leu2215Arg)
c.6365T>G (p.Leu2122Arg)
c.5408T>G (p.Leu1803Arg)
c.5399T>G (p.Leu1800Arg)
5g.37051850T>ACA443910106NIPBLc.7026T>A (p.Leu2342=)
n.908T>A
c.1-12728T>A (n.1-12728T>A)
c.6282T>A (p.Leu2094=)
c.6828T>A (p.Leu2276=)
c.6645T>A (p.Leu2215=)
c.6366T>A (p.Leu2122=)
c.5409T>A (p.Leu1803=)
c.5400T>A (p.Leu1800=)
5g.37051850T>CCA443910108NIPBLc.7026T>C (p.Leu2342=)
n.908T>C
c.1-12728T>C (n.1-12728T>C)
c.6282T>C (p.Leu2094=)
c.6828T>C (p.Leu2276=)
c.6645T>C (p.Leu2215=)
c.6366T>C (p.Leu2122=)
c.5409T>C (p.Leu1803=)
c.5400T>C (p.Leu1800=)
5g.37051850T>GCA443910110NIPBLc.7026T>G (p.Leu2342=)
n.908T>G
c.1-12728T>G (n.1-12728T>G)
c.6282T>G (p.Leu2094=)
c.6828T>G (p.Leu2276=)
c.6645T>G (p.Leu2215=)
c.6366T>G (p.Leu2122=)
c.5409T>G (p.Leu1803=)
c.5400T>G (p.Leu1800=)
5g.37051851G>ACA359510653NIPBLc.7027G>A (p.Val2343Met)
n.909G>A
c.1-12727G>A (n.1-12727G>A)
c.6283G>A (p.Val2095Met)
c.6829G>A (p.Val2277Met)
c.6646G>A (p.Val2216Met)
c.6367G>A (p.Val2123Met)
c.5410G>A (p.Val1804Met)
c.5401G>A (p.Val1801Met)
5g.37051851G>CCA359510656NIPBLc.7027G>C (p.Val2343Leu)
n.909G>C
c.1-12727G>C (n.1-12727G>C)
c.6283G>C (p.Val2095Leu)
c.6829G>C (p.Val2277Leu)
c.6646G>C (p.Val2216Leu)
c.6367G>C (p.Val2123Leu)
c.5410G>C (p.Val1804Leu)
c.5401G>C (p.Val1801Leu)
 dbSNP gnomAD v4
5g.37051851G=CA1539571452NIPBLc.7027G= (p.Val2343=)
n.909G=
c.1-12727G= (n.1-12727G=)
c.6283G= (p.Val2095=)
c.6829G= (p.Val2277=)
c.6646G= (p.Val2216=)
c.6367G= (p.Val2123=)
c.5410G= (p.Val1804=)
c.5401G= (p.Val1801=)
5g.37051851G>TCA359510666NIPBLc.7027G>T (p.Val2343Leu)
n.909G>T
c.1-12727G>T (n.1-12727G>T)
c.6283G>T (p.Val2095Leu)
c.6829G>T (p.Val2277Leu)
c.6646G>T (p.Val2216Leu)
c.6367G>T (p.Val2123Leu)
c.5410G>T (p.Val1804Leu)
c.5401G>T (p.Val1801Leu)
5g.37051852T>ACA359510667NIPBLc.7028T>A (p.Val2343Glu)
n.910T>A
c.1-12726T>A (n.1-12726T>A)
c.6284T>A (p.Val2095Glu)
c.6830T>A (p.Val2277Glu)
c.6647T>A (p.Val2216Glu)
c.6368T>A (p.Val2123Glu)
c.5411T>A (p.Val1804Glu)
c.5402T>A (p.Val1801Glu)
5g.37051852T>CCA359510668NIPBLc.7028T>C (p.Val2343Ala)
n.910T>C
c.1-12726T>C (n.1-12726T>C)
c.6284T>C (p.Val2095Ala)
c.6830T>C (p.Val2277Ala)
c.6647T>C (p.Val2216Ala)
c.6368T>C (p.Val2123Ala)
c.5411T>C (p.Val1804Ala)
c.5402T>C (p.Val1801Ala)
5g.37051852T>GCA359510669NIPBLc.7028T>G (p.Val2343Gly)
n.910T>G
c.1-12726T>G (n.1-12726T>G)
c.6284T>G (p.Val2095Gly)
c.6830T>G (p.Val2277Gly)
c.6647T>G (p.Val2216Gly)
c.6368T>G (p.Val2123Gly)
c.5411T>G (p.Val1804Gly)
c.5402T>G (p.Val1801Gly)
5g.37051853G>ACA443910125NIPBLc.7029G>A (p.Val2343=)
n.911G>A
c.1-12725G>A (n.1-12725G>A)
c.6285G>A (p.Val2095=)
c.6831G>A (p.Val2277=)
c.6648G>A (p.Val2216=)
c.6369G>A (p.Val2123=)
c.5412G>A (p.Val1804=)
c.5403G>A (p.Val1801=)
5g.37051853G>CCA443910121NIPBLc.7029G>C (p.Val2343=)
n.911G>C
c.1-12725G>C (n.1-12725G>C)
c.6285G>C (p.Val2095=)
c.6831G>C (p.Val2277=)
c.6648G>C (p.Val2216=)
c.6369G>C (p.Val2123=)
c.5412G>C (p.Val1804=)
c.5403G>C (p.Val1801=)
 dbSNP
5g.37051853G=CA1539571457NIPBLc.7029G= (p.Val2343=)
n.911G=
c.1-12725G= (n.1-12725G=)
c.6285G= (p.Val2095=)
c.6831G= (p.Val2277=)
c.6648G= (p.Val2216=)
c.6369G= (p.Val2123=)
c.5412G= (p.Val1804=)
c.5403G= (p.Val1801=)
5g.37051853G>TCA443910123NIPBLc.7029G>T (p.Val2343=)
n.911G>T
c.1-12725G>T (n.1-12725G>T)
c.6285G>T (p.Val2095=)
c.6831G>T (p.Val2277=)
c.6648G>T (p.Val2216=)
c.6369G>T (p.Val2123=)
c.5412G>T (p.Val1804=)
c.5403G>T (p.Val1801=)
5g.37051854G>ACA359510673NIPBLc.7030G>A (p.Glu2344Lys)
n.912G>A
c.1-12724G>A (n.1-12724G>A)
c.6286G>A (p.Glu2096Lys)
c.6832G>A (p.Glu2278Lys)
c.6649G>A (p.Glu2217Lys)
c.6370G>A (p.Glu2124Lys)
c.5413G>A (p.Glu1805Lys)
c.5404G>A (p.Glu1802Lys)
5g.37051854G>CCA359510671NIPBLc.7030G>C (p.Glu2344Gln)
n.912G>C
c.1-12724G>C (n.1-12724G>C)
c.6286G>C (p.Glu2096Gln)
c.6832G>C (p.Glu2278Gln)
c.6649G>C (p.Glu2217Gln)
c.6370G>C (p.Glu2124Gln)
c.5413G>C (p.Glu1805Gln)
c.5404G>C (p.Glu1802Gln)
5g.37051854G>TCA359510670NIPBLc.7030G>T (p.Glu2344Ter)
n.912G>T
c.1-12724G>T (n.1-12724G>T)
c.6286G>T (p.Glu2096Ter)
c.6832G>T (p.Glu2278Ter)
c.6649G>T (p.Glu2217Ter)
c.6370G>T (p.Glu2124Ter)
c.5413G>T (p.Glu1805Ter)
c.5404G>T (p.Glu1802Ter)
5g.37051855A>CCA359510680NIPBLc.7031A>C (p.Glu2344Ala)
n.913A>C
c.1-12723A>C (n.1-12723A>C)
c.6287A>C (p.Glu2096Ala)
c.6833A>C (p.Glu2278Ala)
c.6650A>C (p.Glu2217Ala)
c.6371A>C (p.Glu2124Ala)
c.5414A>C (p.Glu1805Ala)
c.5405A>C (p.Glu1802Ala)
5g.37051855A>GCA359510682NIPBLc.7031A>G (p.Glu2344Gly)
n.913A>G
c.1-12723A>G (n.1-12723A>G)
c.6287A>G (p.Glu2096Gly)
c.6833A>G (p.Glu2278Gly)
c.6650A>G (p.Glu2217Gly)
c.6371A>G (p.Glu2124Gly)
c.5414A>G (p.Glu1805Gly)
c.5405A>G (p.Glu1802Gly)
5g.37051855A>TCA359510684NIPBLc.7031A>T (p.Glu2344Val)
n.913A>T
c.1-12723A>T (n.1-12723A>T)
c.6287A>T (p.Glu2096Val)
c.6833A>T (p.Glu2278Val)
c.6650A>T (p.Glu2217Val)
c.6371A>T (p.Glu2124Val)
c.5414A>T (p.Glu1805Val)
c.5405A>T (p.Glu1802Val)
5g.37051856A>CCA359510688NIPBLc.7032A>C (p.Glu2344Asp)
n.914A>C
c.1-12722A>C (n.1-12722A>C)
c.6288A>C (p.Glu2096Asp)
c.6834A>C (p.Glu2278Asp)
c.6651A>C (p.Glu2217Asp)
c.6372A>C (p.Glu2124Asp)
c.5415A>C (p.Glu1805Asp)
c.5406A>C (p.Glu1802Asp)
5g.37051856A>GCA443910139NIPBLc.7032A>G (p.Glu2344=)
n.914A>G
c.1-12722A>G (n.1-12722A>G)
c.6288A>G (p.Glu2096=)
c.6834A>G (p.Glu2278=)
c.6651A>G (p.Glu2217=)
c.6372A>G (p.Glu2124=)
c.5415A>G (p.Glu1805=)
c.5406A>G (p.Glu1802=)
5g.37051856A>TCA359510689NIPBLc.7032A>T (p.Glu2344Asp)
n.914A>T
c.1-12722A>T (n.1-12722A>T)
c.6288A>T (p.Glu2096Asp)
c.6834A>T (p.Glu2278Asp)
c.6651A>T (p.Glu2217Asp)
c.6372A>T (p.Glu2124Asp)
c.5415A>T (p.Glu1805Asp)
c.5406A>T (p.Glu1802Asp)
5g.37051857A=CA1539571461NIPBLc.7033A= (p.Ile2345=)
n.915A=
c.1-12721A= (n.1-12721A=)
c.6289A= (p.Ile2097=)
c.6835A= (p.Ile2279=)
c.6652A= (p.Ile2218=)
c.6373A= (p.Ile2125=)
c.5416A= (p.Ile1806=)
c.5407A= (p.Ile1803=)
5g.37051857A>CCA359510692NIPBLc.7033A>C (p.Ile2345Leu)
n.915A>C
c.1-12721A>C (n.1-12721A>C)
c.6289A>C (p.Ile2097Leu)
c.6835A>C (p.Ile2279Leu)
c.6652A>C (p.Ile2218Leu)
c.6373A>C (p.Ile2125Leu)
c.5416A>C (p.Ile1806Leu)
c.5407A>C (p.Ile1803Leu)
5g.37051857A>GCA359510695NIPBLc.7033A>G (p.Ile2345Val)
n.915A>G
c.1-12721A>G (n.1-12721A>G)
c.6289A>G (p.Ile2097Val)
c.6835A>G (p.Ile2279Val)
c.6652A>G (p.Ile2218Val)
c.6373A>G (p.Ile2125Val)
c.5416A>G (p.Ile1806Val)
c.5407A>G (p.Ile1803Val)
 dbSNP gnomAD v2 gnomAD v4
5g.37051857A>TCA359510698NIPBLc.7033A>T (p.Ile2345Leu)
n.915A>T
c.1-12721A>T (n.1-12721A>T)
c.6289A>T (p.Ile2097Leu)
c.6835A>T (p.Ile2279Leu)
c.6652A>T (p.Ile2218Leu)
c.6373A>T (p.Ile2125Leu)
c.5416A>T (p.Ile1806Leu)
c.5407A>T (p.Ile1803Leu)
5g.37051858T>ACA359510707NIPBLc.7034T>A (p.Ile2345Lys)
n.916T>A
c.1-12720T>A (n.1-12720T>A)
c.6290T>A (p.Ile2097Lys)
c.6836T>A (p.Ile2279Lys)
c.6653T>A (p.Ile2218Lys)
c.6374T>A (p.Ile2125Lys)
c.5417T>A (p.Ile1806Lys)
c.5408T>A (p.Ile1803Lys)
5g.37051858T>CCA359510709NIPBLc.7034T>C (p.Ile2345Thr)
n.916T>C
c.1-12720T>C (n.1-12720T>C)
c.6290T>C (p.Ile2097Thr)
c.6836T>C (p.Ile2279Thr)
c.6653T>C (p.Ile2218Thr)
c.6374T>C (p.Ile2125Thr)
c.5417T>C (p.Ile1806Thr)
c.5408T>C (p.Ile1803Thr)
5g.37051858T>GCA359510720NIPBLc.7034T>G (p.Ile2345Arg)
n.916T>G
c.1-12720T>G (n.1-12720T>G)
c.6290T>G (p.Ile2097Arg)
c.6836T>G (p.Ile2279Arg)
c.6653T>G (p.Ile2218Arg)
c.6374T>G (p.Ile2125Arg)
c.5417T>G (p.Ile1806Arg)
c.5408T>G (p.Ile1803Arg)
5g.37051859A>CCA443910152NIPBLc.7035A>C (p.Ile2345=)
n.917A>C
c.1-12719A>C (n.1-12719A>C)
c.6291A>C (p.Ile2097=)
c.6837A>C (p.Ile2279=)
c.6654A>C (p.Ile2218=)
c.6375A>C (p.Ile2125=)
c.5418A>C (p.Ile1806=)
c.5409A>C (p.Ile1803=)
5g.37051859A>GCA359510723NIPBLc.7035A>G (p.Ile2345Met)
n.917A>G
c.1-12719A>G (n.1-12719A>G)
c.6291A>G (p.Ile2097Met)
c.6837A>G (p.Ile2279Met)
c.6654A>G (p.Ile2218Met)
c.6375A>G (p.Ile2125Met)
c.5418A>G (p.Ile1806Met)
c.5409A>G (p.Ile1803Met)
5g.37051859A>TCA443910155NIPBLc.7035A>T (p.Ile2345=)
n.917A>T
c.1-12719A>T (n.1-12719A>T)
c.6291A>T (p.Ile2097=)
c.6837A>T (p.Ile2279=)
c.6654A>T (p.Ile2218=)
c.6375A>T (p.Ile2125=)
c.5418A>T (p.Ile1806=)
c.5409A>T (p.Ile1803=)
5g.37051860G>ACA359510731NIPBLc.7036G>A (p.Asp2346Asn)
n.918G>A
c.1-12718G>A (n.1-12718G>A)
c.6292G>A (p.Asp2098Asn)
c.6838G>A (p.Asp2280Asn)
c.6655G>A (p.Asp2219Asn)
c.6376G>A (p.Asp2126Asn)
c.5419G>A (p.Asp1807Asn)
c.5410G>A (p.Asp1804Asn)
5g.37051860G>CCA3237116NIPBLc.7036G>C (p.Asp2346His)
n.918G>C
c.1-12718G>C (n.1-12718G>C)
c.6292G>C (p.Asp2098His)
c.6838G>C (p.Asp2280His)
c.6655G>C (p.Asp2219His)
c.6376G>C (p.Asp2126His)
c.5419G>C (p.Asp1807His)
c.5410G>C (p.Asp1804His)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37051860G=CA1539571463NIPBLc.7036G= (p.Asp2346=)
n.918G=
c.1-12718G= (n.1-12718G=)
c.6292G= (p.Asp2098=)
c.6838G= (p.Asp2280=)
c.6655G= (p.Asp2219=)
c.6376G= (p.Asp2126=)
c.5419G= (p.Asp1807=)
c.5410G= (p.Asp1804=)
5g.37051860G>TCA359510730NIPBLc.7036G>T (p.Asp2346Tyr)
n.918G>T
c.1-12718G>T (n.1-12718G>T)
c.6292G>T (p.Asp2098Tyr)
c.6838G>T (p.Asp2280Tyr)
c.6655G>T (p.Asp2219Tyr)
c.6376G>T (p.Asp2126Tyr)
c.5419G>T (p.Asp1807Tyr)
c.5410G>T (p.Asp1804Tyr)
5g.37051861A>CCA359510732NIPBLc.7037A>C (p.Asp2346Ala)
n.919A>C
c.1-12717A>C (n.1-12717A>C)
c.6293A>C (p.Asp2098Ala)
c.6839A>C (p.Asp2280Ala)
c.6656A>C (p.Asp2219Ala)
c.6377A>C (p.Asp2126Ala)
c.5420A>C (p.Asp1807Ala)
c.5411A>C (p.Asp1804Ala)
5g.37051861A>GCA359510735NIPBLc.7037A>G (p.Asp2346Gly)
n.919A>G
c.1-12717A>G (n.1-12717A>G)
c.6293A>G (p.Asp2098Gly)
c.6839A>G (p.Asp2280Gly)
c.6656A>G (p.Asp2219Gly)
c.6377A>G (p.Asp2126Gly)
c.5420A>G (p.Asp1807Gly)
c.5411A>G (p.Asp1804Gly)
5g.37051861A>TCA359510733NIPBLc.7037A>T (p.Asp2346Val)
n.919A>T
c.1-12717A>T (n.1-12717A>T)
c.6293A>T (p.Asp2098Val)
c.6839A>T (p.Asp2280Val)
c.6656A>T (p.Asp2219Val)
c.6377A>T (p.Asp2126Val)
c.5420A>T (p.Asp1807Val)
c.5411A>T (p.Asp1804Val)
5g.37051861_37051862insTCA2765899864NIPBLc.7037_7038insT (p.Lys2347GlnfsTer?)
n.919_920insT
c.1-12717_1-12716insT (n.1-12717_1-12716insT)
c.6293_6294insT (p.Lys2099GlnfsTer?)
c.6839_6840insT (p.Lys2281GlnfsTer?)
c.6656_6657insT (p.Lys2220GlnfsTer?)
c.6377_6378insT (p.Lys2127GlnfsTer?)
c.5420_5421insT (p.Lys1808GlnfsTer?)
c.5411_5412insT (p.Lys1805GlnfsTer?)
5g.37051862C>ACA359510743NIPBLc.7038C>A (p.Asp2346Glu)
n.920C>A
c.1-12716C>A (n.1-12716C>A)
c.6294C>A (p.Asp2098Glu)
c.6840C>A (p.Asp2280Glu)
c.6657C>A (p.Asp2219Glu)
c.6378C>A (p.Asp2126Glu)
c.5421C>A (p.Asp1807Glu)
c.5412C>A (p.Asp1804Glu)
5g.37051862C=CA1539571467NIPBLc.7038C= (p.Asp2346=)
n.920C=
c.1-12716C= (n.1-12716C=)
c.6294C= (p.Asp2098=)
c.6840C= (p.Asp2280=)
c.6657C= (p.Asp2219=)
c.6378C= (p.Asp2126=)
c.5421C= (p.Asp1807=)
c.5412C= (p.Asp1804=)
5g.37051862C>GCA359510747NIPBLc.7038C>G (p.Asp2346Glu)
n.920C>G
c.1-12716C>G (n.1-12716C>G)
c.6294C>G (p.Asp2098Glu)
c.6840C>G (p.Asp2280Glu)
c.6657C>G (p.Asp2219Glu)
c.6378C>G (p.Asp2126Glu)
c.5421C>G (p.Asp1807Glu)
c.5412C>G (p.Asp1804Glu)
 dbSNP gnomAD v2 gnomAD v4
5g.37051862C>TCA3237117NIPBLc.7038C>T (p.Asp2346=)
n.920C>T
c.1-12716C>T (n.1-12716C>T)
c.6294C>T (p.Asp2098=)
c.6840C>T (p.Asp2280=)
c.6657C>T (p.Asp2219=)
c.6378C>T (p.Asp2126=)
c.5421C>T (p.Asp1807=)
c.5412C>T (p.Asp1804=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37051863A=CA1539571474NIPBLc.7039A= (p.Lys2347=)
n.921A=
c.1-12715A= (n.1-12715A=)
c.6295A= (p.Lys2099=)
c.6841A= (p.Lys2281=)
c.6658A= (p.Lys2220=)
c.6379A= (p.Lys2127=)
c.5422A= (p.Lys1808=)
c.5413A= (p.Lys1805=)
5g.37051863A>CCA359510749NIPBLc.7039A>C (p.Lys2347Gln)
n.921A>C
c.1-12715A>C (n.1-12715A>C)
c.6295A>C (p.Lys2099Gln)
c.6841A>C (p.Lys2281Gln)
c.6658A>C (p.Lys2220Gln)
c.6379A>C (p.Lys2127Gln)
c.5422A>C (p.Lys1808Gln)
c.5413A>C (p.Lys1805Gln)
 gnomAD v4
5g.37051863A>GCA359510753NIPBLc.7039A>G (p.Lys2347Glu)
n.921A>G
c.1-12715A>G (n.1-12715A>G)
c.6295A>G (p.Lys2099Glu)
c.6841A>G (p.Lys2281Glu)
c.6658A>G (p.Lys2220Glu)
c.6379A>G (p.Lys2127Glu)
c.5422A>G (p.Lys1808Glu)
c.5413A>G (p.Lys1805Glu)
 dbSNP
5g.37051863A>TCA359510751NIPBLc.7039A>T (p.Lys2347Ter)
n.921A>T
c.1-12715A>T (n.1-12715A>T)
c.6295A>T (p.Lys2099Ter)
c.6841A>T (p.Lys2281Ter)
c.6658A>T (p.Lys2220Ter)
c.6379A>T (p.Lys2127Ter)
c.5422A>T (p.Lys1808Ter)
c.5413A>T (p.Lys1805Ter)
5g.37051868dupCA645548417NIPBLc.7044dup (p.Tyr2349IlefsTer?)
n.926dup
c.1-12710dup (n.1-12710dup)
c.6300dup (p.Tyr2101IlefsTer?)
c.6846dup (p.Tyr2283IlefsTer?)
c.6663dup (p.Tyr2222IlefsTer?)
c.6384dup (p.Tyr2129IlefsTer?)
c.5427dup (p.Tyr1810IlefsTer?)
c.5418dup (p.Tyr1807IlefsTer?)
 COSMIC COSMIC
5g.37051864A>CCA359510755NIPBLc.7040A>C (p.Lys2347Thr)
n.922A>C
c.1-12714A>C (n.1-12714A>C)
c.6296A>C (p.Lys2099Thr)
c.6842A>C (p.Lys2281Thr)
c.6659A>C (p.Lys2220Thr)
c.6380A>C (p.Lys2127Thr)
c.5423A>C (p.Lys1808Thr)
c.5414A>C (p.Lys1805Thr)
5g.37051864A>GCA359510756NIPBLc.7040A>G (p.Lys2347Arg)
n.922A>G
c.1-12714A>G (n.1-12714A>G)
c.6296A>G (p.Lys2099Arg)
c.6842A>G (p.Lys2281Arg)
c.6659A>G (p.Lys2220Arg)
c.6380A>G (p.Lys2127Arg)
c.5423A>G (p.Lys1808Arg)
c.5414A>G (p.Lys1805Arg)
 gnomAD v4
5g.37051864A>TCA359510758NIPBLc.7040A>T (p.Lys2347Ile)
n.922A>T
c.1-12714A>T (n.1-12714A>T)
c.6296A>T (p.Lys2099Ile)
c.6842A>T (p.Lys2281Ile)
c.6659A>T (p.Lys2220Ile)
c.6380A>T (p.Lys2127Ile)
c.5423A>T (p.Lys1808Ile)
c.5414A>T (p.Lys1805Ile)
5g.37051865A>CCA359510760NIPBLc.7041A>C (p.Lys2347Asn)
n.923A>C
c.1-12713A>C (n.1-12713A>C)
c.6297A>C (p.Lys2099Asn)
c.6843A>C (p.Lys2281Asn)
c.6660A>C (p.Lys2220Asn)
c.6381A>C (p.Lys2127Asn)
c.5424A>C (p.Lys1808Asn)
c.5415A>C (p.Lys1805Asn)
5g.37051865A>GCA443910187NIPBLc.7041A>G (p.Lys2347=)
n.923A>G
c.1-12713A>G (n.1-12713A>G)
c.6297A>G (p.Lys2099=)
c.6843A>G (p.Lys2281=)
c.6660A>G (p.Lys2220=)
c.6381A>G (p.Lys2127=)
c.5424A>G (p.Lys1808=)
c.5415A>G (p.Lys1805=)
5g.37051865A>TCA359510762NIPBLc.7041A>T (p.Lys2347Asn)
n.923A>T
c.1-12713A>T (n.1-12713A>T)
c.6297A>T (p.Lys2099Asn)
c.6843A>T (p.Lys2281Asn)
c.6660A>T (p.Lys2220Asn)
c.6381A>T (p.Lys2127Asn)
c.5424A>T (p.Lys1808Asn)
c.5415A>T (p.Lys1805Asn)
5g.37051866A>CCA359510764NIPBLc.7042A>C (p.Lys2348Gln)
n.924A>C
c.1-12712A>C (n.1-12712A>C)
c.6298A>C (p.Lys2100Gln)
c.6844A>C (p.Lys2282Gln)
c.6661A>C (p.Lys2221Gln)
c.6382A>C (p.Lys2128Gln)
c.5425A>C (p.Lys1809Gln)
c.5416A>C (p.Lys1806Gln)
5g.37051866A>GCA359510765NIPBLc.7042A>G (p.Lys2348Glu)
n.924A>G
c.1-12712A>G (n.1-12712A>G)
c.6298A>G (p.Lys2100Glu)
c.6844A>G (p.Lys2282Glu)
c.6661A>G (p.Lys2221Glu)
c.6382A>G (p.Lys2128Glu)
c.5425A>G (p.Lys1809Glu)
c.5416A>G (p.Lys1806Glu)
5g.37051866A>TCA359510768NIPBLc.7042A>T (p.Lys2348Ter)
n.924A>T
c.1-12712A>T (n.1-12712A>T)
c.6298A>T (p.Lys2100Ter)
c.6844A>T (p.Lys2282Ter)
c.6661A>T (p.Lys2221Ter)
c.6382A>T (p.Lys2128Ter)
c.5425A>T (p.Lys1809Ter)
c.5416A>T (p.Lys1806Ter)
5g.37051867A>CCA359510772NIPBLc.7043A>C (p.Lys2348Thr)
n.925A>C
c.1-12711A>C (n.1-12711A>C)
c.6299A>C (p.Lys2100Thr)
c.6845A>C (p.Lys2282Thr)
c.6662A>C (p.Lys2221Thr)
c.6383A>C (p.Lys2128Thr)
c.5426A>C (p.Lys1809Thr)
c.5417A>C (p.Lys1806Thr)
5g.37051867A>GCA359510774NIPBLc.7043A>G (p.Lys2348Arg)
n.925A>G
c.1-12711A>G (n.1-12711A>G)
c.6299A>G (p.Lys2100Arg)
c.6845A>G (p.Lys2282Arg)
c.6662A>G (p.Lys2221Arg)
c.6383A>G (p.Lys2128Arg)
c.5426A>G (p.Lys1809Arg)
c.5417A>G (p.Lys1806Arg)
5g.37051867A>TCA359510776NIPBLc.7043A>T (p.Lys2348Ile)
n.925A>T
c.1-12711A>T (n.1-12711A>T)
c.6299A>T (p.Lys2100Ile)
c.6845A>T (p.Lys2282Ile)
c.6662A>T (p.Lys2221Ile)
c.6383A>T (p.Lys2128Ile)
c.5426A>T (p.Lys1809Ile)
c.5417A>T (p.Lys1806Ile)
5g.37051868A>CCA359510782NIPBLc.7044A>C (p.Lys2348Asn)
n.926A>C
c.1-12710A>C (n.1-12710A>C)
c.6300A>C (p.Lys2100Asn)
c.6846A>C (p.Lys2282Asn)
c.6663A>C (p.Lys2221Asn)
c.6384A>C (p.Lys2128Asn)
c.5427A>C (p.Lys1809Asn)
c.5418A>C (p.Lys1806Asn)
5g.37051868A>GCA443910202NIPBLc.7044A>G (p.Lys2348=)
n.926A>G
c.1-12710A>G (n.1-12710A>G)
c.6300A>G (p.Lys2100=)
c.6846A>G (p.Lys2282=)
c.6663A>G (p.Lys2221=)
c.6384A>G (p.Lys2128=)
c.5427A>G (p.Lys1809=)
c.5418A>G (p.Lys1806=)
5g.37051868A>TCA359510779NIPBLc.7044A>T (p.Lys2348Asn)
n.926A>T
c.1-12710A>T (n.1-12710A>T)
c.6300A>T (p.Lys2100Asn)
c.6846A>T (p.Lys2282Asn)
c.6663A>T (p.Lys2221Asn)
c.6384A>T (p.Lys2128Asn)
c.5427A>T (p.Lys1809Asn)
c.5418A>T (p.Lys1806Asn)
5g.37051869T>ACA359510783NIPBLc.7045T>A (p.Tyr2349Asn)
n.927T>A
c.1-12709T>A (n.1-12709T>A)
c.6301T>A (p.Tyr2101Asn)
c.6847T>A (p.Tyr2283Asn)
c.6664T>A (p.Tyr2222Asn)
c.6385T>A (p.Tyr2129Asn)
c.5428T>A (p.Tyr1810Asn)
c.5419T>A (p.Tyr1807Asn)
5g.37051869T>CCA359510784NIPBLc.7045T>C (p.Tyr2349His)
n.927T>C
c.1-12709T>C (n.1-12709T>C)
c.6301T>C (p.Tyr2101His)
c.6847T>C (p.Tyr2283His)
c.6664T>C (p.Tyr2222His)
c.6385T>C (p.Tyr2129His)
c.5428T>C (p.Tyr1810His)
c.5419T>C (p.Tyr1807His)
5g.37051869T>GCA359510786NIPBLc.7045T>G (p.Tyr2349Asp)
n.927T>G
c.1-12709T>G (n.1-12709T>G)
c.6301T>G (p.Tyr2101Asp)
c.6847T>G (p.Tyr2283Asp)
c.6664T>G (p.Tyr2222Asp)
c.6385T>G (p.Tyr2129Asp)
c.5428T>G (p.Tyr1810Asp)
c.5419T>G (p.Tyr1807Asp)
5g.37051869_37051870insTACGAGCA2560314661NIPBLc.7045_7046insTACGAG (p.Tyr2349delinsLeuArgAsp)
n.927_928insTACGAG
c.1-12709_1-12708insTACGAG (n.1-12709_1-12708insTACGAG)
c.6301_6302insTACGAG (p.Tyr2101delinsLeuArgAsp)
c.6847_6848insTACGAG (p.Tyr2283delinsLeuArgAsp)
c.6664_6665insTACGAG (p.Tyr2222delinsLeuArgAsp)
c.6385_6386insTACGAG (p.Tyr2129delinsLeuArgAsp)
c.5428_5429insTACGAG (p.Tyr1810delinsLeuArgAsp)
c.5419_5420insTACGAG (p.Tyr1807delinsLeuArgAsp)
5g.37051870A>CCA359510793NIPBLc.7046A>C (p.Tyr2349Ser)
n.928A>C
c.1-12708A>C (n.1-12708A>C)
c.6302A>C (p.Tyr2101Ser)
c.6848A>C (p.Tyr2283Ser)
c.6665A>C (p.Tyr2222Ser)
c.6386A>C (p.Tyr2129Ser)
c.5429A>C (p.Tyr1810Ser)
c.5420A>C (p.Tyr1807Ser)
5g.37051870A>GCA359510795NIPBLc.7046A>G (p.Tyr2349Cys)
n.928A>G
c.1-12708A>G (n.1-12708A>G)
c.6302A>G (p.Tyr2101Cys)
c.6848A>G (p.Tyr2283Cys)
c.6665A>G (p.Tyr2222Cys)
c.6386A>G (p.Tyr2129Cys)
c.5429A>G (p.Tyr1810Cys)
c.5420A>G (p.Tyr1807Cys)
5g.37051870A>TCA359510797NIPBLc.7046A>T (p.Tyr2349Phe)
n.928A>T
c.1-12708A>T (n.1-12708A>T)
c.6302A>T (p.Tyr2101Phe)
c.6848A>T (p.Tyr2283Phe)
c.6665A>T (p.Tyr2222Phe)
c.6386A>T (p.Tyr2129Phe)
c.5429A>T (p.Tyr1810Phe)
c.5420A>T (p.Tyr1807Phe)
5g.37051871T>ACA359510799NIPBLc.7047T>A (p.Tyr2349Ter)
n.929T>A
c.1-12707T>A (n.1-12707T>A)
c.6303T>A (p.Tyr2101Ter)
c.6849T>A (p.Tyr2283Ter)
c.6666T>A (p.Tyr2222Ter)
c.6387T>A (p.Tyr2129Ter)
c.5430T>A (p.Tyr1810Ter)
c.5421T>A (p.Tyr1807Ter)
5g.37051871T>CCA3237118NIPBLc.7047T>C (p.Tyr2349=)
n.929T>C
c.1-12707T>C (n.1-12707T>C)
c.6303T>C (p.Tyr2101=)
c.6849T>C (p.Tyr2283=)
c.6666T>C (p.Tyr2222=)
c.6387T>C (p.Tyr2129=)
c.5430T>C (p.Tyr1810=)
c.5421T>C (p.Tyr1807=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37051871T>GCA267219NIPBLc.7047T>G (p.Tyr2349Ter)
n.929T>G
c.1-12707T>G (n.1-12707T>G)
c.6303T>G (p.Tyr2101Ter)
c.6849T>G (p.Tyr2283Ter)
c.6666T>G (p.Tyr2222Ter)
c.6387T>G (p.Tyr2129Ter)
c.5430T>G (p.Tyr1810Ter)
c.5421T>G (p.Tyr1807Ter)
 ClinVar dbSNP
5g.37051871T=CA1539571478NIPBLc.7047T= (p.Tyr2349=)
n.929T=
c.1-12707T= (n.1-12707T=)
c.6303T= (p.Tyr2101=)
c.6849T= (p.Tyr2283=)
c.6666T= (p.Tyr2222=)
c.6387T= (p.Tyr2129=)
c.5430T= (p.Tyr1810=)
c.5421T= (p.Tyr1807=)
5g.37051872G>ACA359510803NIPBLc.7048G>A (p.Ala2350Thr)
n.930G>A
c.1-12706G>A (n.1-12706G>A)
c.6304G>A (p.Ala2102Thr)
c.6850G>A (p.Ala2284Thr)
c.6667G>A (p.Ala2223Thr)
c.6388G>A (p.Ala2130Thr)
c.5431G>A (p.Ala1811Thr)
c.5422G>A (p.Ala1808Thr)
5g.37051872G>CCA359510806NIPBLc.7048G>C (p.Ala2350Pro)
n.930G>C
c.1-12706G>C (n.1-12706G>C)
c.6304G>C (p.Ala2102Pro)
c.6850G>C (p.Ala2284Pro)
c.6667G>C (p.Ala2223Pro)
c.6388G>C (p.Ala2130Pro)
c.5431G>C (p.Ala1811Pro)
c.5422G>C (p.Ala1808Pro)
5g.37051872G>TCA359510808NIPBLc.7048G>T (p.Ala2350Ser)
n.930G>T
c.1-12706G>T (n.1-12706G>T)
c.6304G>T (p.Ala2102Ser)
c.6850G>T (p.Ala2284Ser)
c.6667G>T (p.Ala2223Ser)
c.6388G>T (p.Ala2130Ser)
c.5431G>T (p.Ala1811Ser)
c.5422G>T (p.Ala1808Ser)

Number of alleles fetched