Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37048470A>CCA2578289633NIPBLc.6590-32A>C (n.6590-32A>C)
c.1-16108A>C (n.1-16108A>C)
c.5846-32A>C (n.5846-32A>C)
c.6392-32A>C (n.6392-32A>C)
c.6209-32A>C (n.6209-32A>C)
c.5930-32A>C (n.5930-32A>C)
c.4973-32A>C (n.4973-32A>C)
c.4964-32A>C (n.4964-32A>C)
 gnomAD v4
5g.37048470A>GCA2673582231NIPBLc.6590-32A>G (n.6590-32A>G)
c.1-16108A>G (n.1-16108A>G)
c.5846-32A>G (n.5846-32A>G)
c.6392-32A>G (n.6392-32A>G)
c.6209-32A>G (n.6209-32A>G)
c.5930-32A>G (n.5930-32A>G)
c.4973-32A>G (n.4973-32A>G)
c.4964-32A>G (n.4964-32A>G)
 gnomAD v4
5g.37048471T>ACA2673582233NIPBLc.6590-31T>A (n.6590-31T>A)
c.1-16107T>A (n.1-16107T>A)
c.5846-31T>A (n.5846-31T>A)
c.6392-31T>A (n.6392-31T>A)
c.6209-31T>A (n.6209-31T>A)
c.5930-31T>A (n.5930-31T>A)
c.4973-31T>A (n.4973-31T>A)
c.4964-31T>A (n.4964-31T>A)
 gnomAD v4
5g.37048471T>CCA117048570NIPBLc.6590-31T>C (n.6590-31T>C)
c.1-16107T>C (n.1-16107T>C)
c.5846-31T>C (n.5846-31T>C)
c.6392-31T>C (n.6392-31T>C)
c.6209-31T>C (n.6209-31T>C)
c.5930-31T>C (n.5930-31T>C)
c.4973-31T>C (n.4973-31T>C)
c.4964-31T>C (n.4964-31T>C)
 dbSNP gnomAD v2 gnomAD v4
5g.37048471T>GCA2673582232NIPBLc.6590-31T>G (n.6590-31T>G)
c.1-16107T>G (n.1-16107T>G)
c.5846-31T>G (n.5846-31T>G)
c.6392-31T>G (n.6392-31T>G)
c.6209-31T>G (n.6209-31T>G)
c.5930-31T>G (n.5930-31T>G)
c.4973-31T>G (n.4973-31T>G)
c.4964-31T>G (n.4964-31T>G)
 gnomAD v4
5g.37048471T=CA1539567320NIPBLc.6590-31T= (n.6590-31T=)
c.1-16107T= (n.1-16107T=)
c.5846-31T= (n.5846-31T=)
c.6392-31T= (n.6392-31T=)
c.6209-31T= (n.6209-31T=)
c.5930-31T= (n.5930-31T=)
c.4973-31T= (n.4973-31T=)
c.4964-31T= (n.4964-31T=)
5g.37048472A>GCA2673582234NIPBLc.6590-30A>G (n.6590-30A>G)
c.1-16106A>G (n.1-16106A>G)
c.5846-30A>G (n.5846-30A>G)
c.6392-30A>G (n.6392-30A>G)
c.6209-30A>G (n.6209-30A>G)
c.5930-30A>G (n.5930-30A>G)
c.4973-30A>G (n.4973-30A>G)
c.4964-30A>G (n.4964-30A>G)
 gnomAD v4
5g.37048473T>ACA2578289634NIPBLc.6590-29T>A (n.6590-29T>A)
c.1-16105T>A (n.1-16105T>A)
c.5846-29T>A (n.5846-29T>A)
c.6392-29T>A (n.6392-29T>A)
c.6209-29T>A (n.6209-29T>A)
c.5930-29T>A (n.5930-29T>A)
c.4973-29T>A (n.4973-29T>A)
c.4964-29T>A (n.4964-29T>A)
5g.37048473T>CCA2673582235NIPBLc.6590-29T>C (n.6590-29T>C)
c.1-16105T>C (n.1-16105T>C)
c.5846-29T>C (n.5846-29T>C)
c.6392-29T>C (n.6392-29T>C)
c.6209-29T>C (n.6209-29T>C)
c.5930-29T>C (n.5930-29T>C)
c.4973-29T>C (n.4973-29T>C)
c.4964-29T>C (n.4964-29T>C)
 gnomAD v4
5g.37048474A>GCA2673582236NIPBLc.6590-28A>G (n.6590-28A>G)
c.1-16104A>G (n.1-16104A>G)
c.5846-28A>G (n.5846-28A>G)
c.6392-28A>G (n.6392-28A>G)
c.6209-28A>G (n.6209-28A>G)
c.5930-28A>G (n.5930-28A>G)
c.4973-28A>G (n.4973-28A>G)
c.4964-28A>G (n.4964-28A>G)
 gnomAD v4
5g.37048478_37048480delCA2578289636NIPBLc.6590-24_6590-22del (n.6590-24_6590-22del)
c.1-16100_1-16098del (n.1-16100_1-16098del)
c.5846-24_5846-22del (n.5846-24_5846-22del)
c.6392-24_6392-22del (n.6392-24_6392-22del)
c.6209-24_6209-22del (n.6209-24_6209-22del)
c.5930-24_5930-22del (n.5930-24_5930-22del)
c.4973-24_4973-22del (n.4973-24_4973-22del)
c.4964-24_4964-22del (n.4964-24_4964-22del)
 gnomAD v4
5g.37048475T>ACA2673582237NIPBLc.6590-27T>A (n.6590-27T>A)
c.1-16103T>A (n.1-16103T>A)
c.5846-27T>A (n.5846-27T>A)
c.6392-27T>A (n.6392-27T>A)
c.6209-27T>A (n.6209-27T>A)
c.5930-27T>A (n.5930-27T>A)
c.4973-27T>A (n.4973-27T>A)
c.4964-27T>A (n.4964-27T>A)
 gnomAD v4
5g.37048475T>CCA2673582238NIPBLc.6590-27T>C (n.6590-27T>C)
c.1-16103T>C (n.1-16103T>C)
c.5846-27T>C (n.5846-27T>C)
c.6392-27T>C (n.6392-27T>C)
c.6209-27T>C (n.6209-27T>C)
c.5930-27T>C (n.5930-27T>C)
c.4973-27T>C (n.4973-27T>C)
c.4964-27T>C (n.4964-27T>C)
 gnomAD v4
5g.37048476G>ACA2673582239NIPBLc.6590-26G>A (n.6590-26G>A)
c.1-16102G>A (n.1-16102G>A)
c.5846-26G>A (n.5846-26G>A)
c.6392-26G>A (n.6392-26G>A)
c.6209-26G>A (n.6209-26G>A)
c.5930-26G>A (n.5930-26G>A)
c.4973-26G>A (n.4973-26G>A)
c.4964-26G>A (n.4964-26G>A)
 gnomAD v4
5g.37048476G>CCA2572999478NIPBLc.6590-26G>C (n.6590-26G>C)
c.1-16102G>C (n.1-16102G>C)
c.5846-26G>C (n.5846-26G>C)
c.6392-26G>C (n.6392-26G>C)
c.6209-26G>C (n.6209-26G>C)
c.5930-26G>C (n.5930-26G>C)
c.4973-26G>C (n.4973-26G>C)
c.4964-26G>C (n.4964-26G>C)
5g.37048476G>TCA2578289637NIPBLc.6590-26G>T (n.6590-26G>T)
c.1-16102G>T (n.1-16102G>T)
c.5846-26G>T (n.5846-26G>T)
c.6392-26G>T (n.6392-26G>T)
c.6209-26G>T (n.6209-26G>T)
c.5930-26G>T (n.5930-26G>T)
c.4973-26G>T (n.4973-26G>T)
c.4964-26G>T (n.4964-26G>T)
 gnomAD v4
5g.37048477A>GCA2673582240NIPBLc.6590-25A>G (n.6590-25A>G)
c.1-16101A>G (n.1-16101A>G)
c.5846-25A>G (n.5846-25A>G)
c.6392-25A>G (n.6392-25A>G)
c.6209-25A>G (n.6209-25A>G)
c.5930-25A>G (n.5930-25A>G)
c.4973-25A>G (n.4973-25A>G)
c.4964-25A>G (n.4964-25A>G)
 gnomAD v4
5g.37048477A>TCA2673582241NIPBLc.6590-25A>T (n.6590-25A>T)
c.1-16101A>T (n.1-16101A>T)
c.5846-25A>T (n.5846-25A>T)
c.6392-25A>T (n.6392-25A>T)
c.6209-25A>T (n.6209-25A>T)
c.5930-25A>T (n.5930-25A>T)
c.4973-25A>T (n.4973-25A>T)
c.4964-25A>T (n.4964-25A>T)
 gnomAD v4
5g.37048478T>ACA2558539647NIPBLc.6590-24T>A (n.6590-24T>A)
c.1-16100T>A (n.1-16100T>A)
c.5846-24T>A (n.5846-24T>A)
c.6392-24T>A (n.6392-24T>A)
c.6209-24T>A (n.6209-24T>A)
c.5930-24T>A (n.5930-24T>A)
c.4973-24T>A (n.4973-24T>A)
c.4964-24T>A (n.4964-24T>A)
5g.37048478T>CCA2673582242NIPBLc.6590-24T>C (n.6590-24T>C)
c.1-16100T>C (n.1-16100T>C)
c.5846-24T>C (n.5846-24T>C)
c.6392-24T>C (n.6392-24T>C)
c.6209-24T>C (n.6209-24T>C)
c.5930-24T>C (n.5930-24T>C)
c.4973-24T>C (n.4973-24T>C)
c.4964-24T>C (n.4964-24T>C)
 gnomAD v4
5g.37048479G>ACA3237028NIPBLc.6590-23G>A (n.6590-23G>A)
c.1-16099G>A (n.1-16099G>A)
c.5846-23G>A (n.5846-23G>A)
c.6392-23G>A (n.6392-23G>A)
c.6209-23G>A (n.6209-23G>A)
c.5930-23G>A (n.5930-23G>A)
c.4973-23G>A (n.4973-23G>A)
c.4964-23G>A (n.4964-23G>A)
 dbSNP ExAC gnomAD v4
5g.37048479G>CCA2561549827NIPBLc.6590-23G>C (n.6590-23G>C)
c.1-16099G>C (n.1-16099G>C)
c.5846-23G>C (n.5846-23G>C)
c.6392-23G>C (n.6392-23G>C)
c.6209-23G>C (n.6209-23G>C)
c.5930-23G>C (n.5930-23G>C)
c.4973-23G>C (n.4973-23G>C)
c.4964-23G>C (n.4964-23G>C)
5g.37048479G=CA1539567324NIPBLc.6590-23G= (n.6590-23G=)
c.1-16099G= (n.1-16099G=)
c.5846-23G= (n.5846-23G=)
c.6392-23G= (n.6392-23G=)
c.6209-23G= (n.6209-23G=)
c.5930-23G= (n.5930-23G=)
c.4973-23G= (n.4973-23G=)
c.4964-23G= (n.4964-23G=)
5g.37048479G>TCA2673582243NIPBLc.6590-23G>T (n.6590-23G>T)
c.1-16099G>T (n.1-16099G>T)
c.5846-23G>T (n.5846-23G>T)
c.6392-23G>T (n.6392-23G>T)
c.6209-23G>T (n.6209-23G>T)
c.5930-23G>T (n.5930-23G>T)
c.4973-23G>T (n.4973-23G>T)
c.4964-23G>T (n.4964-23G>T)
 gnomAD v4
5g.37048480A>GCA2673582244NIPBLc.6590-22A>G (n.6590-22A>G)
c.1-16098A>G (n.1-16098A>G)
c.5846-22A>G (n.5846-22A>G)
c.6392-22A>G (n.6392-22A>G)
c.6209-22A>G (n.6209-22A>G)
c.5930-22A>G (n.5930-22A>G)
c.4973-22A>G (n.4973-22A>G)
c.4964-22A>G (n.4964-22A>G)
 gnomAD v4
5g.37048481G>CCA1539567328NIPBLc.6590-21G>C (n.6590-21G>C)
c.1-16097G>C (n.1-16097G>C)
c.5846-21G>C (n.5846-21G>C)
c.6392-21G>C (n.6392-21G>C)
c.6209-21G>C (n.6209-21G>C)
c.5930-21G>C (n.5930-21G>C)
c.4973-21G>C (n.4973-21G>C)
c.4964-21G>C (n.4964-21G>C)
 dbSNP
5g.37048481G=CA1539567327NIPBLc.6590-21G= (n.6590-21G=)
c.1-16097G= (n.1-16097G=)
c.5846-21G= (n.5846-21G=)
c.6392-21G= (n.6392-21G=)
c.6209-21G= (n.6209-21G=)
c.5930-21G= (n.5930-21G=)
c.4973-21G= (n.4973-21G=)
c.4964-21G= (n.4964-21G=)
5g.37048481G>TCA1075097828NIPBLc.6590-21G>T (n.6590-21G>T)
c.1-16097G>T (n.1-16097G>T)
c.5846-21G>T (n.5846-21G>T)
c.6392-21G>T (n.6392-21G>T)
c.6209-21G>T (n.6209-21G>T)
c.5930-21G>T (n.5930-21G>T)
c.4973-21G>T (n.4973-21G>T)
c.4964-21G>T (n.4964-21G>T)
 dbSNP gnomAD v3 gnomAD v4
5g.37048482A=CA1539567331NIPBLc.6590-20A= (n.6590-20A=)
c.1-16096A= (n.1-16096A=)
c.5846-20A= (n.5846-20A=)
c.6392-20A= (n.6392-20A=)
c.6209-20A= (n.6209-20A=)
c.5930-20A= (n.5930-20A=)
c.4973-20A= (n.4973-20A=)
c.4964-20A= (n.4964-20A=)
5g.37048482A>GCA1539567332NIPBLc.6590-20A>G (n.6590-20A>G)
c.1-16096A>G (n.1-16096A>G)
c.5846-20A>G (n.5846-20A>G)
c.6392-20A>G (n.6392-20A>G)
c.6209-20A>G (n.6209-20A>G)
c.5930-20A>G (n.5930-20A>G)
c.4973-20A>G (n.4973-20A>G)
c.4964-20A>G (n.4964-20A>G)
 dbSNP gnomAD v4
5g.37048482_37048483insATGCA2513793149NIPBLc.6590-20_6590-19insATG (n.6590-20_6590-19insATG)
c.1-16096_1-16095insATG (n.1-16096_1-16095insATG)
c.5846-20_5846-19insATG (n.5846-20_5846-19insATG)
c.6392-20_6392-19insATG (n.6392-20_6392-19insATG)
c.6209-20_6209-19insATG (n.6209-20_6209-19insATG)
c.5930-20_5930-19insATG (n.5930-20_5930-19insATG)
c.4973-20_4973-19insATG (n.4973-20_4973-19insATG)
c.4964-20_4964-19insATG (n.4964-20_4964-19insATG)
5g.37048482_37048483insATTTTTGTTCA2513808185NIPBLc.6590-20_6590-19insATTTTTGTT (n.6590-20_6590-19insATTTTTGTT)
c.1-16096_1-16095insATTTTTGTT (n.1-16096_1-16095insATTTTTGTT)
c.5846-20_5846-19insATTTTTGTT (n.5846-20_5846-19insATTTTTGTT)
c.6392-20_6392-19insATTTTTGTT (n.6392-20_6392-19insATTTTTGTT)
c.6209-20_6209-19insATTTTTGTT (n.6209-20_6209-19insATTTTTGTT)
c.5930-20_5930-19insATTTTTGTT (n.5930-20_5930-19insATTTTTGTT)
c.4973-20_4973-19insATTTTTGTT (n.4973-20_4973-19insATTTTTGTT)
c.4964-20_4964-19insATTTTTGTT (n.4964-20_4964-19insATTTTTGTT)
5g.37048483T>CCA2673582246NIPBLc.6590-19T>C (n.6590-19T>C)
c.1-16095T>C (n.1-16095T>C)
c.5846-19T>C (n.5846-19T>C)
c.6392-19T>C (n.6392-19T>C)
c.6209-19T>C (n.6209-19T>C)
c.5930-19T>C (n.5930-19T>C)
c.4973-19T>C (n.4973-19T>C)
c.4964-19T>C (n.4964-19T>C)
 gnomAD v4
5g.37048487dupCA3237029NIPBLc.6590-15dup (n.6590-15dup)
c.1-16091dup (n.1-16091dup)
c.5846-15dup (n.5846-15dup)
c.6392-15dup (n.6392-15dup)
c.6209-15dup (n.6209-15dup)
c.5930-15dup (n.5930-15dup)
c.4973-15dup (n.4973-15dup)
c.4964-15dup (n.4964-15dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37048487delCA2673582245NIPBLc.6590-15del (n.6590-15del)
c.1-16091del (n.1-16091del)
c.5846-15del (n.5846-15del)
c.6392-15del (n.6392-15del)
c.6209-15del (n.6209-15del)
c.5930-15del (n.5930-15del)
c.4973-15del (n.4973-15del)
c.4964-15del (n.4964-15del)
 gnomAD v4
5g.37048484T>ACA1539567339NIPBLc.6590-18T>A (n.6590-18T>A)
c.1-16094T>A (n.1-16094T>A)
c.5846-18T>A (n.5846-18T>A)
c.6392-18T>A (n.6392-18T>A)
c.6209-18T>A (n.6209-18T>A)
c.5930-18T>A (n.5930-18T>A)
c.4973-18T>A (n.4973-18T>A)
c.4964-18T>A (n.4964-18T>A)
 dbSNP
5g.37048484T>CCA2673582247NIPBLc.6590-18T>C (n.6590-18T>C)
c.1-16094T>C (n.1-16094T>C)
c.5846-18T>C (n.5846-18T>C)
c.6392-18T>C (n.6392-18T>C)
c.6209-18T>C (n.6209-18T>C)
c.5930-18T>C (n.5930-18T>C)
c.4973-18T>C (n.4973-18T>C)
c.4964-18T>C (n.4964-18T>C)
 gnomAD v4
5g.37048484T=CA1539567336NIPBLc.6590-18T= (n.6590-18T=)
c.1-16094T= (n.1-16094T=)
c.5846-18T= (n.5846-18T=)
c.6392-18T= (n.6392-18T=)
c.6209-18T= (n.6209-18T=)
c.5930-18T= (n.5930-18T=)
c.4973-18T= (n.4973-18T=)
c.4964-18T= (n.4964-18T=)
5g.37048485T>CCA2673582248NIPBLc.6590-17T>C (n.6590-17T>C)
c.1-16093T>C (n.1-16093T>C)
c.5846-17T>C (n.5846-17T>C)
c.6392-17T>C (n.6392-17T>C)
c.6209-17T>C (n.6209-17T>C)
c.5930-17T>C (n.5930-17T>C)
c.4973-17T>C (n.4973-17T>C)
c.4964-17T>C (n.4964-17T>C)
 gnomAD v4
5g.37048485T>GCA2673582249NIPBLc.6590-17T>G (n.6590-17T>G)
c.1-16093T>G (n.1-16093T>G)
c.5846-17T>G (n.5846-17T>G)
c.6392-17T>G (n.6392-17T>G)
c.6209-17T>G (n.6209-17T>G)
c.5930-17T>G (n.5930-17T>G)
c.4973-17T>G (n.4973-17T>G)
c.4964-17T>G (n.4964-17T>G)
 gnomAD v4
5g.37048486T>CCA2673582250NIPBLc.6590-16T>C (n.6590-16T>C)
c.1-16092T>C (n.1-16092T>C)
c.5846-16T>C (n.5846-16T>C)
c.6392-16T>C (n.6392-16T>C)
c.6209-16T>C (n.6209-16T>C)
c.5930-16T>C (n.5930-16T>C)
c.4973-16T>C (n.4973-16T>C)
c.4964-16T>C (n.4964-16T>C)
 gnomAD v4
5g.37048486_37048491delinsTTCCCCCA1539567342NIPBLc.6590-16_6590-11delinsTTCCCC (n.6590-16_6590-11delinsTTCCCC)
c.1-16092_1-16087delinsTTCCCC (n.1-16092_1-16087delinsTTCCCC)
c.5846-16_5846-11delinsTTCCCC (n.5846-16_5846-11delinsTTCCCC)
c.6392-16_6392-11delinsTTCCCC (n.6392-16_6392-11delinsTTCCCC)
c.6209-16_6209-11delinsTTCCCC (n.6209-16_6209-11delinsTTCCCC)
c.5930-16_5930-11delinsTTCCCC (n.5930-16_5930-11delinsTTCCCC)
c.4973-16_4973-11delinsTTCCCC (n.4973-16_4973-11delinsTTCCCC)
c.4964-16_4964-11delinsTTCCCC (n.4964-16_4964-11delinsTTCCCC)
5g.37048487T>CCA1075097837NIPBLc.6590-15T>C (n.6590-15T>C)
c.1-16091T>C (n.1-16091T>C)
c.5846-15T>C (n.5846-15T>C)
c.6392-15T>C (n.6392-15T>C)
c.6209-15T>C (n.6209-15T>C)
c.5930-15T>C (n.5930-15T>C)
c.4973-15T>C (n.4973-15T>C)
c.4964-15T>C (n.4964-15T>C)
 dbSNP gnomAD v3 gnomAD v4
5g.37048487T>GCA2673582251NIPBLc.6590-15T>G (n.6590-15T>G)
c.1-16091T>G (n.1-16091T>G)
c.5846-15T>G (n.5846-15T>G)
c.6392-15T>G (n.6392-15T>G)
c.6209-15T>G (n.6209-15T>G)
c.5930-15T>G (n.5930-15T>G)
c.4973-15T>G (n.4973-15T>G)
c.4964-15T>G (n.4964-15T>G)
 gnomAD v4
5g.37048487T=CA1539567352NIPBLc.6590-15T= (n.6590-15T=)
c.1-16091T= (n.1-16091T=)
c.5846-15T= (n.5846-15T=)
c.6392-15T= (n.6392-15T=)
c.6209-15T= (n.6209-15T=)
c.5930-15T= (n.5930-15T=)
c.4973-15T= (n.4973-15T=)
c.4964-15T= (n.4964-15T=)
5g.37048487_37048488delinsTCCA1539567354NIPBLc.6590-15_6590-14delinsTC (n.6590-15_6590-14delinsTC)
c.1-16091_1-16090delinsTC (n.1-16091_1-16090delinsTC)
c.5846-15_5846-14delinsTC (n.5846-15_5846-14delinsTC)
c.6392-15_6392-14delinsTC (n.6392-15_6392-14delinsTC)
c.6209-15_6209-14delinsTC (n.6209-15_6209-14delinsTC)
c.5930-15_5930-14delinsTC (n.5930-15_5930-14delinsTC)
c.4973-15_4973-14delinsTC (n.4973-15_4973-14delinsTC)
c.4964-15_4964-14delinsTC (n.4964-15_4964-14delinsTC)
5g.37048489_37048493delCA1075097834NIPBLc.6590-13_6590-9del (n.6590-13_6590-9del)
c.1-16089_1-16085del (n.1-16089_1-16085del)
c.5846-13_5846-9del (n.5846-13_5846-9del)
c.6392-13_6392-9del (n.6392-13_6392-9del)
c.6209-13_6209-9del (n.6209-13_6209-9del)
c.5930-13_5930-9del (n.5930-13_5930-9del)
c.4973-13_4973-9del (n.4973-13_4973-9del)
c.4964-13_4964-9del (n.4964-13_4964-9del)
 dbSNP gnomAD v3 gnomAD v4
5g.37048488C>ACA2673582252NIPBLc.6590-14C>A (n.6590-14C>A)
c.1-16090C>A (n.1-16090C>A)
c.5846-14C>A (n.5846-14C>A)
c.6392-14C>A (n.6392-14C>A)
c.6209-14C>A (n.6209-14C>A)
c.5930-14C>A (n.5930-14C>A)
c.4973-14C>A (n.4973-14C>A)
c.4964-14C>A (n.4964-14C>A)
 gnomAD v4
5g.37048488C=CA1539567362NIPBLc.6590-14C= (n.6590-14C=)
c.1-16090C= (n.1-16090C=)
c.5846-14C= (n.5846-14C=)
c.6392-14C= (n.6392-14C=)
c.6209-14C= (n.6209-14C=)
c.5930-14C= (n.5930-14C=)
c.4973-14C= (n.4973-14C=)
c.4964-14C= (n.4964-14C=)
5g.37048488C>GCA2673582253NIPBLc.6590-14C>G (n.6590-14C>G)
c.1-16090C>G (n.1-16090C>G)
c.5846-14C>G (n.5846-14C>G)
c.6392-14C>G (n.6392-14C>G)
c.6209-14C>G (n.6209-14C>G)
c.5930-14C>G (n.5930-14C>G)
c.4973-14C>G (n.4973-14C>G)
c.4964-14C>G (n.4964-14C>G)
 gnomAD v4
5g.37048488C>TCA3237030NIPBLc.6590-14C>T (n.6590-14C>T)
c.1-16090C>T (n.1-16090C>T)
c.5846-14C>T (n.5846-14C>T)
c.6392-14C>T (n.6392-14C>T)
c.6209-14C>T (n.6209-14C>T)
c.5930-14C>T (n.5930-14C>T)
c.4973-14C>T (n.4973-14C>T)
c.4964-14C>T (n.4964-14C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37048488_37048491delCA2765899046NIPBLc.6590-14_6590-11del (n.6590-14_6590-11del)
c.1-16090_1-16087del (n.1-16090_1-16087del)
c.5846-14_5846-11del (n.5846-14_5846-11del)
c.6392-14_6392-11del (n.6392-14_6392-11del)
c.6209-14_6209-11del (n.6209-14_6209-11del)
c.5930-14_5930-11del (n.5930-14_5930-11del)
c.4973-14_4973-11del (n.4973-14_4973-11del)
c.4964-14_4964-11del (n.4964-14_4964-11del)
5g.37048491delCA1539567360NIPBLc.6590-11del (n.6590-11del)
c.1-16087del (n.1-16087del)
c.5846-11del (n.5846-11del)
c.6392-11del (n.6392-11del)
c.6209-11del (n.6209-11del)
c.5930-11del (n.5930-11del)
c.4973-11del (n.4973-11del)
c.4964-11del (n.4964-11del)
 dbSNP gnomAD v4
5g.37048489C>ACA2673582254NIPBLc.6590-13C>A (n.6590-13C>A)
c.1-16089C>A (n.1-16089C>A)
c.5846-13C>A (n.5846-13C>A)
c.6392-13C>A (n.6392-13C>A)
c.6209-13C>A (n.6209-13C>A)
c.5930-13C>A (n.5930-13C>A)
c.4973-13C>A (n.4973-13C>A)
c.4964-13C>A (n.4964-13C>A)
 gnomAD v4
5g.37048489C=CA1539567366NIPBLc.6590-13C= (n.6590-13C=)
c.1-16089C= (n.1-16089C=)
c.5846-13C= (n.5846-13C=)
c.6392-13C= (n.6392-13C=)
c.6209-13C= (n.6209-13C=)
c.5930-13C= (n.5930-13C=)
c.4973-13C= (n.4973-13C=)
c.4964-13C= (n.4964-13C=)
5g.37048489C>GCA2673582255NIPBLc.6590-13C>G (n.6590-13C>G)
c.1-16089C>G (n.1-16089C>G)
c.5846-13C>G (n.5846-13C>G)
c.6392-13C>G (n.6392-13C>G)
c.6209-13C>G (n.6209-13C>G)
c.5930-13C>G (n.5930-13C>G)
c.4973-13C>G (n.4973-13C>G)
c.4964-13C>G (n.4964-13C>G)
 gnomAD v4
5g.37048489C>TCA3237031NIPBLc.6590-13C>T (n.6590-13C>T)
c.1-16089C>T (n.1-16089C>T)
c.5846-13C>T (n.5846-13C>T)
c.6392-13C>T (n.6392-13C>T)
c.6209-13C>T (n.6209-13C>T)
c.5930-13C>T (n.5930-13C>T)
c.4973-13C>T (n.4973-13C>T)
c.4964-13C>T (n.4964-13C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37048490C>ACA2673582256NIPBLc.6590-12C>A (n.6590-12C>A)
c.1-16088C>A (n.1-16088C>A)
c.5846-12C>A (n.5846-12C>A)
c.6392-12C>A (n.6392-12C>A)
c.6209-12C>A (n.6209-12C>A)
c.5930-12C>A (n.5930-12C>A)
c.4973-12C>A (n.4973-12C>A)
c.4964-12C>A (n.4964-12C>A)
 gnomAD v4
5g.37048490C=CA1539567368NIPBLc.6590-12C= (n.6590-12C=)
c.1-16088C= (n.1-16088C=)
c.5846-12C= (n.5846-12C=)
c.6392-12C= (n.6392-12C=)
c.6209-12C= (n.6209-12C=)
c.5930-12C= (n.5930-12C=)
c.4973-12C= (n.4973-12C=)
c.4964-12C= (n.4964-12C=)
5g.37048490C>TCA3237032NIPBLc.6590-12C>T (n.6590-12C>T)
c.1-16088C>T (n.1-16088C>T)
c.5846-12C>T (n.5846-12C>T)
c.6392-12C>T (n.6392-12C>T)
c.6209-12C>T (n.6209-12C>T)
c.5930-12C>T (n.5930-12C>T)
c.4973-12C>T (n.4973-12C>T)
c.4964-12C>T (n.4964-12C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37048490_37048492delinsCCTCA1539567367NIPBLc.6590-12_6590-10delinsCCT (n.6590-12_6590-10delinsCCT)
c.1-16088_1-16086delinsCCT (n.1-16088_1-16086delinsCCT)
c.5846-12_5846-10delinsCCT (n.5846-12_5846-10delinsCCT)
c.6392-12_6392-10delinsCCT (n.6392-12_6392-10delinsCCT)
c.6209-12_6209-10delinsCCT (n.6209-12_6209-10delinsCCT)
c.5930-12_5930-10delinsCCT (n.5930-12_5930-10delinsCCT)
c.4973-12_4973-10delinsCCT (n.4973-12_4973-10delinsCCT)
c.4964-12_4964-10delinsCCT (n.4964-12_4964-10delinsCCT)
5g.37048491C>ACA2673582257NIPBLc.6590-11C>A (n.6590-11C>A)
c.1-16087C>A (n.1-16087C>A)
c.5846-11C>A (n.5846-11C>A)
c.6392-11C>A (n.6392-11C>A)
c.6209-11C>A (n.6209-11C>A)
c.5930-11C>A (n.5930-11C>A)
c.4973-11C>A (n.4973-11C>A)
c.4964-11C>A (n.4964-11C>A)
 gnomAD v4
5g.37048491C=CA1539567372NIPBLc.6590-11C= (n.6590-11C=)
c.1-16087C= (n.1-16087C=)
c.5846-11C= (n.5846-11C=)
c.6392-11C= (n.6392-11C=)
c.6209-11C= (n.6209-11C=)
c.5930-11C= (n.5930-11C=)
c.4973-11C= (n.4973-11C=)
c.4964-11C= (n.4964-11C=)
5g.37048491C>GCA2514696542NIPBLc.6590-11C>G (n.6590-11C>G)
c.1-16087C>G (n.1-16087C>G)
c.5846-11C>G (n.5846-11C>G)
c.6392-11C>G (n.6392-11C>G)
c.6209-11C>G (n.6209-11C>G)
c.5930-11C>G (n.5930-11C>G)
c.4973-11C>G (n.4973-11C>G)
c.4964-11C>G (n.4964-11C>G)
5g.37048491C>TCA559295284NIPBLc.6590-11C>T (n.6590-11C>T)
c.1-16087C>T (n.1-16087C>T)
c.5846-11C>T (n.5846-11C>T)
c.6392-11C>T (n.6392-11C>T)
c.6209-11C>T (n.6209-11C>T)
c.5930-11C>T (n.5930-11C>T)
c.4973-11C>T (n.4973-11C>T)
c.4964-11C>T (n.4964-11C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37048494_37048495delCA3237033NIPBLc.6590-8_6590-7del (n.6590-8_6590-7del)
c.1-16084_1-16083del (n.1-16084_1-16083del)
c.5846-8_5846-7del (n.5846-8_5846-7del)
c.6392-8_6392-7del (n.6392-8_6392-7del)
c.6209-8_6209-7del (n.6209-8_6209-7del)
c.5930-8_5930-7del (n.5930-8_5930-7del)
c.4973-8_4973-7del (n.4973-8_4973-7del)
c.4964-8_4964-7del (n.4964-8_4964-7del)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37048491_37048492insATGAATTAAAAACAAGAAACA2510327325NIPBLc.6590-11_6590-10insATGAATTAAAAACAAGAAA (n.6590-11_6590-10insATGAATTAAAAACAAGAAA)
c.1-16087_1-16086insATGAATTAAAAACAAGAAA (n.1-16087_1-16086insATGAATTAAAAACAAGAAA)
c.5846-11_5846-10insATGAATTAAAAACAAGAAA (n.5846-11_5846-10insATGAATTAAAAACAAGAAA)
c.6392-11_6392-10insATGAATTAAAAACAAGAAA (n.6392-11_6392-10insATGAATTAAAAACAAGAAA)
c.6209-11_6209-10insATGAATTAAAAACAAGAAA (n.6209-11_6209-10insATGAATTAAAAACAAGAAA)
c.5930-11_5930-10insATGAATTAAAAACAAGAAA (n.5930-11_5930-10insATGAATTAAAAACAAGAAA)
c.4973-11_4973-10insATGAATTAAAAACAAGAAA (n.4973-11_4973-10insATGAATTAAAAACAAGAAA)
c.4964-11_4964-10insATGAATTAAAAACAAGAAA (n.4964-11_4964-10insATGAATTAAAAACAAGAAA)
5g.37048492delCA2673582258NIPBLc.6590-10del (n.6590-10del)
c.1-16086del (n.1-16086del)
c.5846-10del (n.5846-10del)
c.6392-10del (n.6392-10del)
c.6209-10del (n.6209-10del)
c.5930-10del (n.5930-10del)
c.4973-10del (n.4973-10del)
c.4964-10del (n.4964-10del)
 gnomAD v4
5g.37048492T>ACA2673582259NIPBLc.6590-10T>A (n.6590-10T>A)
c.1-16086T>A (n.1-16086T>A)
c.5846-10T>A (n.5846-10T>A)
c.6392-10T>A (n.6392-10T>A)
c.6209-10T>A (n.6209-10T>A)
c.5930-10T>A (n.5930-10T>A)
c.4973-10T>A (n.4973-10T>A)
c.4964-10T>A (n.4964-10T>A)
 gnomAD v4
5g.37048492T>CCA2673582260NIPBLc.6590-10T>C (n.6590-10T>C)
c.1-16086T>C (n.1-16086T>C)
c.5846-10T>C (n.5846-10T>C)
c.6392-10T>C (n.6392-10T>C)
c.6209-10T>C (n.6209-10T>C)
c.5930-10T>C (n.5930-10T>C)
c.4973-10T>C (n.4973-10T>C)
c.4964-10T>C (n.4964-10T>C)
 gnomAD v4
5g.37048493C>ACA2673582261NIPBLc.6590-9C>A (n.6590-9C>A)
c.1-16085C>A (n.1-16085C>A)
c.5846-9C>A (n.5846-9C>A)
c.6392-9C>A (n.6392-9C>A)
c.6209-9C>A (n.6209-9C>A)
c.5930-9C>A (n.5930-9C>A)
c.4973-9C>A (n.4973-9C>A)
c.4964-9C>A (n.4964-9C>A)
 gnomAD v4
5g.37048493C=CA1539567384NIPBLc.6590-9C= (n.6590-9C=)
c.1-16085C= (n.1-16085C=)
c.5846-9C= (n.5846-9C=)
c.6392-9C= (n.6392-9C=)
c.6209-9C= (n.6209-9C=)
c.5930-9C= (n.5930-9C=)
c.4973-9C= (n.4973-9C=)
c.4964-9C= (n.4964-9C=)
5g.37048493C>TCA3237034NIPBLc.6590-9C>T (n.6590-9C>T)
c.1-16085C>T (n.1-16085C>T)
c.5846-9C>T (n.5846-9C>T)
c.6392-9C>T (n.6392-9C>T)
c.6209-9C>T (n.6209-9C>T)
c.5930-9C>T (n.5930-9C>T)
c.4973-9C>T (n.4973-9C>T)
c.4964-9C>T (n.4964-9C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37048494T>CCA2673582262NIPBLc.6590-8T>C (n.6590-8T>C)
c.1-16084T>C (n.1-16084T>C)
c.5846-8T>C (n.5846-8T>C)
c.6392-8T>C (n.6392-8T>C)
c.6209-8T>C (n.6209-8T>C)
c.5930-8T>C (n.5930-8T>C)
c.4973-8T>C (n.4973-8T>C)
c.4964-8T>C (n.4964-8T>C)
 gnomAD v4
5g.37048495C>ACA2673582264NIPBLc.6590-7C>A (n.6590-7C>A)
c.1-16083C>A (n.1-16083C>A)
c.5846-7C>A (n.5846-7C>A)
c.6392-7C>A (n.6392-7C>A)
c.6209-7C>A (n.6209-7C>A)
c.5930-7C>A (n.5930-7C>A)
c.4973-7C>A (n.4973-7C>A)
c.4964-7C>A (n.4964-7C>A)
 gnomAD v4
5g.37048495C>TCA2504196095NIPBLc.6590-7C>T (n.6590-7C>T)
c.1-16083C>T (n.1-16083C>T)
c.5846-7C>T (n.5846-7C>T)
c.6392-7C>T (n.6392-7C>T)
c.6209-7C>T (n.6209-7C>T)
c.5930-7C>T (n.5930-7C>T)
c.4973-7C>T (n.4973-7C>T)
c.4964-7C>T (n.4964-7C>T)
5g.37048497delCA2673582263NIPBLc.6590-5del (n.6590-5del)
c.1-16081del (n.1-16081del)
c.5846-5del (n.5846-5del)
c.6392-5del (n.6392-5del)
c.6209-5del (n.6209-5del)
c.5930-5del (n.5930-5del)
c.4973-5del (n.4973-5del)
c.4964-5del (n.4964-5del)
 gnomAD v4
5g.37048495_37048498delCA2765899058NIPBLc.6590-7_6590-4del (n.6590-7_6590-4del)
c.1-16083_1-16080del (n.1-16083_1-16080del)
c.5846-7_5846-4del (n.5846-7_5846-4del)
c.6392-7_6392-4del (n.6392-7_6392-4del)
c.6209-7_6209-4del (n.6209-7_6209-4del)
c.5930-7_5930-4del (n.5930-7_5930-4del)
c.4973-7_4973-4del (n.4973-7_4973-4del)
c.4964-7_4964-4del (n.4964-7_4964-4del)
5g.37048496C>ACA2673582265NIPBLc.6590-6C>A (n.6590-6C>A)
c.1-16082C>A (n.1-16082C>A)
c.5846-6C>A (n.5846-6C>A)
c.6392-6C>A (n.6392-6C>A)
c.6209-6C>A (n.6209-6C>A)
c.5930-6C>A (n.5930-6C>A)
c.4973-6C>A (n.4973-6C>A)
c.4964-6C>A (n.4964-6C>A)
 gnomAD v4
5g.37048496C>TCA2673582266NIPBLc.6590-6C>T (n.6590-6C>T)
c.1-16082C>T (n.1-16082C>T)
c.5846-6C>T (n.5846-6C>T)
c.6392-6C>T (n.6392-6C>T)
c.6209-6C>T (n.6209-6C>T)
c.5930-6C>T (n.5930-6C>T)
c.4973-6C>T (n.4973-6C>T)
c.4964-6C>T (n.4964-6C>T)
 gnomAD v4
5g.37048497C>ACA2673582267NIPBLc.6590-5C>A (n.6590-5C>A)
c.1-16081C>A (n.1-16081C>A)
c.5846-5C>A (n.5846-5C>A)
c.6392-5C>A (n.6392-5C>A)
c.6209-5C>A (n.6209-5C>A)
c.5930-5C>A (n.5930-5C>A)
c.4973-5C>A (n.4973-5C>A)
c.4964-5C>A (n.4964-5C>A)
 gnomAD v4
5g.37048497C>TCA2510056509NIPBLc.6590-5C>T (n.6590-5C>T)
c.1-16081C>T (n.1-16081C>T)
c.5846-5C>T (n.5846-5C>T)
c.6392-5C>T (n.6392-5C>T)
c.6209-5C>T (n.6209-5C>T)
c.5930-5C>T (n.5930-5C>T)
c.4973-5C>T (n.4973-5C>T)
c.4964-5C>T (n.4964-5C>T)
 gnomAD v4
5g.37048498A=CA1539567391NIPBLc.6590-4A= (n.6590-4A=)
c.1-16080A= (n.1-16080A=)
c.5846-4A= (n.5846-4A=)
c.6392-4A= (n.6392-4A=)
c.6209-4A= (n.6209-4A=)
c.5930-4A= (n.5930-4A=)
c.4973-4A= (n.4973-4A=)
c.4964-4A= (n.4964-4A=)
5g.37048498A>GCA1539567392NIPBLc.6590-4A>G (n.6590-4A>G)
c.1-16080A>G (n.1-16080A>G)
c.5846-4A>G (n.5846-4A>G)
c.6392-4A>G (n.6392-4A>G)
c.6209-4A>G (n.6209-4A>G)
c.5930-4A>G (n.5930-4A>G)
c.4973-4A>G (n.4973-4A>G)
c.4964-4A>G (n.4964-4A>G)
 dbSNP gnomAD v4
5g.37048498A>TCA2506181875NIPBLc.6590-4A>T (n.6590-4A>T)
c.1-16080A>T (n.1-16080A>T)
c.5846-4A>T (n.5846-4A>T)
c.6392-4A>T (n.6392-4A>T)
c.6209-4A>T (n.6209-4A>T)
c.5930-4A>T (n.5930-4A>T)
c.4973-4A>T (n.4973-4A>T)
c.4964-4A>T (n.4964-4A>T)
 gnomAD v4
5g.37048499T>ACA2673582268NIPBLc.6590-3T>A (n.6590-3T>A)
c.1-16079T>A (n.1-16079T>A)
c.5846-3T>A (n.5846-3T>A)
c.6392-3T>A (n.6392-3T>A)
c.6209-3T>A (n.6209-3T>A)
c.5930-3T>A (n.5930-3T>A)
c.4973-3T>A (n.4973-3T>A)
c.4964-3T>A (n.4964-3T>A)
 gnomAD v4
5g.37048499T>CCA2673582269NIPBLc.6590-3T>C (n.6590-3T>C)
c.1-16079T>C (n.1-16079T>C)
c.5846-3T>C (n.5846-3T>C)
c.6392-3T>C (n.6392-3T>C)
c.6209-3T>C (n.6209-3T>C)
c.5930-3T>C (n.5930-3T>C)
c.4973-3T>C (n.4973-3T>C)
c.4964-3T>C (n.4964-3T>C)
 gnomAD v4
5g.37048500A=CA1539567396NIPBLc.6590-2A= (n.6590-2A=)
c.1-16078A= (n.1-16078A=)
c.5846-2A= (n.5846-2A=)
c.6392-2A= (n.6392-2A=)
c.6209-2A= (n.6209-2A=)
c.5930-2A= (n.5930-2A=)
c.4973-2A= (n.4973-2A=)
c.4964-2A= (n.4964-2A=)
5g.37048500A>CCA272244NIPBLc.6590-2A>C (n.6590-2A>C)
c.1-16078A>C (n.1-16078A>C)
c.5846-2A>C (n.5846-2A>C)
c.6392-2A>C (n.6392-2A>C)
c.6209-2A>C (n.6209-2A>C)
c.5930-2A>C (n.5930-2A>C)
c.4973-2A>C (n.4973-2A>C)
c.4964-2A>C (n.4964-2A>C)
 ClinVar dbSNP
5g.37048500A>GCA359507812NIPBLc.6590-2A>G (n.6590-2A>G)
c.1-16078A>G (n.1-16078A>G)
c.5846-2A>G (n.5846-2A>G)
c.6392-2A>G (n.6392-2A>G)
c.6209-2A>G (n.6209-2A>G)
c.5930-2A>G (n.5930-2A>G)
c.4973-2A>G (n.4973-2A>G)
c.4964-2A>G (n.4964-2A>G)
 gnomAD v4
5g.37048500A>TCA359507813NIPBLc.6590-2A>T (n.6590-2A>T)
c.1-16078A>T (n.1-16078A>T)
c.5846-2A>T (n.5846-2A>T)
c.6392-2A>T (n.6392-2A>T)
c.6209-2A>T (n.6209-2A>T)
c.5930-2A>T (n.5930-2A>T)
c.4973-2A>T (n.4973-2A>T)
c.4964-2A>T (n.4964-2A>T)
5g.37048501G>ACA359507815NIPBLc.6590-1G>A (n.6590-1G>A)
c.1-16077G>A (n.1-16077G>A)
c.5846-1G>A (n.5846-1G>A)
c.6392-1G>A (n.6392-1G>A)
c.6209-1G>A (n.6209-1G>A)
c.5930-1G>A (n.5930-1G>A)
c.4973-1G>A (n.4973-1G>A)
c.4964-1G>A (n.4964-1G>A)
5g.37048501G>CCA359507816NIPBLc.6590-1G>C (n.6590-1G>C)
c.1-16077G>C (n.1-16077G>C)
c.5846-1G>C (n.5846-1G>C)
c.6392-1G>C (n.6392-1G>C)
c.6209-1G>C (n.6209-1G>C)
c.5930-1G>C (n.5930-1G>C)
c.4973-1G>C (n.4973-1G>C)
c.4964-1G>C (n.4964-1G>C)
5g.37048501G>TCA359507817NIPBLc.6590-1G>T (n.6590-1G>T)
c.1-16077G>T (n.1-16077G>T)
c.5846-1G>T (n.5846-1G>T)
c.6392-1G>T (n.6392-1G>T)
c.6209-1G>T (n.6209-1G>T)
c.5930-1G>T (n.5930-1G>T)
c.4973-1G>T (n.4973-1G>T)
c.4964-1G>T (n.4964-1G>T)
 gnomAD v4
5g.37048502G>ACA272245NIPBLc.6590G>A (p.Gly2197Glu)
c.1-16076G>A (n.1-16076G>A)
c.5846G>A (p.Gly1949Glu)
c.6392G>A (p.Gly2131Glu)
c.6209G>A (p.Gly2070Glu)
c.5930G>A (p.Gly1977Glu)
c.4973G>A (p.Gly1658Glu)
c.4964G>A (p.Gly1655Glu)
 ClinVar dbSNP
5g.37048502G>CCA359507822NIPBLc.6590G>C (p.Gly2197Ala)
c.1-16076G>C (n.1-16076G>C)
c.5846G>C (p.Gly1949Ala)
c.6392G>C (p.Gly2131Ala)
c.6209G>C (p.Gly2070Ala)
c.5930G>C (p.Gly1977Ala)
c.4973G>C (p.Gly1658Ala)
c.4964G>C (p.Gly1655Ala)
5g.37048502G=CA1539567408NIPBLc.6590G= (p.Gly2197=)
c.1-16076G= (n.1-16076G=)
c.5846G= (p.Gly1949=)
c.6392G= (p.Gly2131=)
c.6209G= (p.Gly2070=)
c.5930G= (p.Gly1977=)
c.4973G= (p.Gly1658=)
c.4964G= (p.Gly1655=)
5g.37048502G>TCA359507819NIPBLc.6590G>T (p.Gly2197Val)
c.1-16076G>T (n.1-16076G>T)
c.5846G>T (p.Gly1949Val)
c.6392G>T (p.Gly2131Val)
c.6209G>T (p.Gly2070Val)
c.5930G>T (p.Gly1977Val)
c.4973G>T (p.Gly1658Val)
c.4964G>T (p.Gly1655Val)
 gnomAD v4 COSMIC COSMIC
5g.37048503A=CA1539567413NIPBLc.6591A= (p.Gly2197=)
c.1-16075A= (n.1-16075A=)
c.5847A= (p.Gly1949=)
c.6393A= (p.Gly2131=)
c.6210A= (p.Gly2070=)
c.5931A= (p.Gly1977=)
c.4974A= (p.Gly1658=)
c.4965A= (p.Gly1655=)
5g.37048503A>CCA443907077NIPBLc.6591A>C (p.Gly2197=)
c.1-16075A>C (n.1-16075A>C)
c.5847A>C (p.Gly1949=)
c.6393A>C (p.Gly2131=)
c.6210A>C (p.Gly2070=)
c.5931A>C (p.Gly1977=)
c.4974A>C (p.Gly1658=)
c.4965A>C (p.Gly1655=)
5g.37048503A>GCA117048625NIPBLc.6591A>G (p.Gly2197=)
c.1-16075A>G (n.1-16075A>G)
c.5847A>G (p.Gly1949=)
c.6393A>G (p.Gly2131=)
c.6210A>G (p.Gly2070=)
c.5931A>G (p.Gly1977=)
c.4974A>G (p.Gly1658=)
c.4965A>G (p.Gly1655=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37048503A>TCA443907078NIPBLc.6591A>T (p.Gly2197=)
c.1-16075A>T (n.1-16075A>T)
c.5847A>T (p.Gly1949=)
c.6393A>T (p.Gly2131=)
c.6210A>T (p.Gly2070=)
c.5931A>T (p.Gly1977=)
c.4974A>T (p.Gly1658=)
c.4965A>T (p.Gly1655=)
 gnomAD v4
5g.37048504T>ACA359507824NIPBLc.6592T>A (p.Phe2198Ile)
c.1-16074T>A (n.1-16074T>A)
c.5848T>A (p.Phe1950Ile)
c.6394T>A (p.Phe2132Ile)
c.6211T>A (p.Phe2071Ile)
c.5932T>A (p.Phe1978Ile)
c.4975T>A (p.Phe1659Ile)
c.4966T>A (p.Phe1656Ile)
5g.37048504T>CCA359507827NIPBLc.6592T>C (p.Phe2198Leu)
c.1-16074T>C (n.1-16074T>C)
c.5848T>C (p.Phe1950Leu)
c.6394T>C (p.Phe2132Leu)
c.6211T>C (p.Phe2071Leu)
c.5932T>C (p.Phe1978Leu)
c.4975T>C (p.Phe1659Leu)
c.4966T>C (p.Phe1656Leu)
5g.37048504T>GCA359507825NIPBLc.6592T>G (p.Phe2198Val)
c.1-16074T>G (n.1-16074T>G)
c.5848T>G (p.Phe1950Val)
c.6394T>G (p.Phe2132Val)
c.6211T>G (p.Phe2071Val)
c.5932T>G (p.Phe1978Val)
c.4975T>G (p.Phe1659Val)
c.4966T>G (p.Phe1656Val)
5g.37048505T>ACA359507830NIPBLc.6593T>A (p.Phe2198Tyr)
c.1-16073T>A (n.1-16073T>A)
c.5849T>A (p.Phe1950Tyr)
c.6395T>A (p.Phe2132Tyr)
c.6212T>A (p.Phe2071Tyr)
c.5933T>A (p.Phe1978Tyr)
c.4976T>A (p.Phe1659Tyr)
c.4967T>A (p.Phe1656Tyr)
5g.37048505T>CCA359507833NIPBLc.6593T>C (p.Phe2198Ser)
c.1-16073T>C (n.1-16073T>C)
c.5849T>C (p.Phe1950Ser)
c.6395T>C (p.Phe2132Ser)
c.6212T>C (p.Phe2071Ser)
c.5933T>C (p.Phe1978Ser)
c.4976T>C (p.Phe1659Ser)
c.4967T>C (p.Phe1656Ser)
5g.37048505T>GCA359507835NIPBLc.6593T>G (p.Phe2198Cys)
c.1-16073T>G (n.1-16073T>G)
c.5849T>G (p.Phe1950Cys)
c.6395T>G (p.Phe2132Cys)
c.6212T>G (p.Phe2071Cys)
c.5933T>G (p.Phe1978Cys)
c.4976T>G (p.Phe1659Cys)
c.4967T>G (p.Phe1656Cys)
5g.37048506T>ACA359507837NIPBLc.6594T>A (p.Phe2198Leu)
c.1-16072T>A (n.1-16072T>A)
c.5850T>A (p.Phe1950Leu)
c.6396T>A (p.Phe2132Leu)
c.6213T>A (p.Phe2071Leu)
c.5934T>A (p.Phe1978Leu)
c.4977T>A (p.Phe1659Leu)
c.4968T>A (p.Phe1656Leu)
5g.37048506T>CCA443907079NIPBLc.6594T>C (p.Phe2198=)
c.1-16072T>C (n.1-16072T>C)
c.5850T>C (p.Phe1950=)
c.6396T>C (p.Phe2132=)
c.6213T>C (p.Phe2071=)
c.5934T>C (p.Phe1978=)
c.4977T>C (p.Phe1659=)
c.4968T>C (p.Phe1656=)
 gnomAD v4
5g.37048506T>GCA359507839NIPBLc.6594T>G (p.Phe2198Leu)
c.1-16072T>G (n.1-16072T>G)
c.5850T>G (p.Phe1950Leu)
c.6396T>G (p.Phe2132Leu)
c.6213T>G (p.Phe2071Leu)
c.5934T>G (p.Phe1978Leu)
c.4977T>G (p.Phe1659Leu)
c.4968T>G (p.Phe1656Leu)
5g.37048507G>ACA359507841NIPBLc.6595G>A (p.Ala2199Thr)
c.1-16071G>A (n.1-16071G>A)
c.5851G>A (p.Ala1951Thr)
c.6397G>A (p.Ala2133Thr)
c.6214G>A (p.Ala2072Thr)
c.5935G>A (p.Ala1979Thr)
c.4978G>A (p.Ala1660Thr)
c.4969G>A (p.Ala1657Thr)
5g.37048507G>CCA245038NIPBLc.6595G>C (p.Ala2199Pro)
c.1-16071G>C (n.1-16071G>C)
c.5851G>C (p.Ala1951Pro)
c.6397G>C (p.Ala2133Pro)
c.6214G>C (p.Ala2072Pro)
c.5935G>C (p.Ala1979Pro)
c.4978G>C (p.Ala1660Pro)
c.4969G>C (p.Ala1657Pro)
 ClinVar dbSNP gnomAD v4
5g.37048507G=CA1539567421NIPBLc.6595G= (p.Ala2199=)
c.1-16071G= (n.1-16071G=)
c.5851G= (p.Ala1951=)
c.6397G= (p.Ala2133=)
c.6214G= (p.Ala2072=)
c.5935G= (p.Ala1979=)
c.4978G= (p.Ala1660=)
c.4969G= (p.Ala1657=)
5g.37048507G>TCA359507842NIPBLc.6595G>T (p.Ala2199Ser)
c.1-16071G>T (n.1-16071G>T)
c.5851G>T (p.Ala1951Ser)
c.6397G>T (p.Ala2133Ser)
c.6214G>T (p.Ala2072Ser)
c.5935G>T (p.Ala1979Ser)
c.4978G>T (p.Ala1660Ser)
c.4969G>T (p.Ala1657Ser)
 gnomAD v4
5g.37048508C>ACA359507844NIPBLc.6596C>A (p.Ala2199Asp)
c.1-16070C>A (n.1-16070C>A)
c.5852C>A (p.Ala1951Asp)
c.6398C>A (p.Ala2133Asp)
c.6215C>A (p.Ala2072Asp)
c.5936C>A (p.Ala1979Asp)
c.4979C>A (p.Ala1660Asp)
c.4970C>A (p.Ala1657Asp)
 gnomAD v4
5g.37048508C>GCA359507846NIPBLc.6596C>G (p.Ala2199Gly)
c.1-16070C>G (n.1-16070C>G)
c.5852C>G (p.Ala1951Gly)
c.6398C>G (p.Ala2133Gly)
c.6215C>G (p.Ala2072Gly)
c.5936C>G (p.Ala1979Gly)
c.4979C>G (p.Ala1660Gly)
c.4970C>G (p.Ala1657Gly)
5g.37048508C>TCA359507847NIPBLc.6596C>T (p.Ala2199Val)
c.1-16070C>T (n.1-16070C>T)
c.5852C>T (p.Ala1951Val)
c.6398C>T (p.Ala2133Val)
c.6215C>T (p.Ala2072Val)
c.5936C>T (p.Ala1979Val)
c.4979C>T (p.Ala1660Val)
c.4970C>T (p.Ala1657Val)
 gnomAD v4
5g.37048509C>ACA443907080NIPBLc.6597C>A (p.Ala2199=)
c.1-16069C>A (n.1-16069C>A)
c.5853C>A (p.Ala1951=)
c.6399C>A (p.Ala2133=)
c.6216C>A (p.Ala2072=)
c.5937C>A (p.Ala1979=)
c.4980C>A (p.Ala1660=)
c.4971C>A (p.Ala1657=)
 gnomAD v4
5g.37048509C=CA1539567435NIPBLc.6597C= (p.Ala2199=)
c.1-16069C= (n.1-16069C=)
c.5853C= (p.Ala1951=)
c.6399C= (p.Ala2133=)
c.6216C= (p.Ala2072=)
c.5937C= (p.Ala1979=)
c.4980C= (p.Ala1660=)
c.4971C= (p.Ala1657=)
5g.37048509C>GCA443907081NIPBLc.6597C>G (p.Ala2199=)
c.1-16069C>G (n.1-16069C>G)
c.5853C>G (p.Ala1951=)
c.6399C>G (p.Ala2133=)
c.6216C>G (p.Ala2072=)
c.5937C>G (p.Ala1979=)
c.4980C>G (p.Ala1660=)
c.4971C>G (p.Ala1657=)
 ClinVar dbSNP gnomAD v4
5g.37048509C>TCA3237035NIPBLc.6597C>T (p.Ala2199=)
c.1-16069C>T (n.1-16069C>T)
c.5853C>T (p.Ala1951=)
c.6399C>T (p.Ala2133=)
c.6216C>T (p.Ala2072=)
c.5937C>T (p.Ala1979=)
c.4980C>T (p.Ala1660=)
c.4971C>T (p.Ala1657=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37048510T>ACA359507852NIPBLc.6598T>A (p.Phe2200Ile)
c.1-16068T>A (n.1-16068T>A)
c.5854T>A (p.Phe1952Ile)
c.6400T>A (p.Phe2134Ile)
c.6217T>A (p.Phe2073Ile)
c.5938T>A (p.Phe1980Ile)
c.4981T>A (p.Phe1661Ile)
c.4972T>A (p.Phe1658Ile)
 gnomAD v4
5g.37048510T>CCA359507849NIPBLc.6598T>C (p.Phe2200Leu)
c.1-16068T>C (n.1-16068T>C)
c.5854T>C (p.Phe1952Leu)
c.6400T>C (p.Phe2134Leu)
c.6217T>C (p.Phe2073Leu)
c.5938T>C (p.Phe1980Leu)
c.4981T>C (p.Phe1661Leu)
c.4972T>C (p.Phe1658Leu)
 gnomAD v4
5g.37048510T>GCA359507851NIPBLc.6598T>G (p.Phe2200Val)
c.1-16068T>G (n.1-16068T>G)
c.5854T>G (p.Phe1952Val)
c.6400T>G (p.Phe2134Val)
c.6217T>G (p.Phe2073Val)
c.5938T>G (p.Phe1980Val)
c.4981T>G (p.Phe1661Val)
c.4972T>G (p.Phe1658Val)
5g.37048512dupCA2695204420NIPBLc.6600dup (p.Ile2201TyrfsTer17)
c.1-16066dup (n.1-16066dup)
c.5856dup (p.Ile1953TyrfsTer17)
c.6402dup (p.Ile2135TyrfsTer17)
c.6219dup (p.Ile2074TyrfsTer17)
c.5940dup (p.Ile1981TyrfsTer17)
c.4983dup (p.Ile1662TyrfsTer17)
c.4974dup (p.Ile1659TyrfsTer17)
5g.37048511T>ACA359507853NIPBLc.6599T>A (p.Phe2200Tyr)
c.1-16067T>A (n.1-16067T>A)
c.5855T>A (p.Phe1952Tyr)
c.6401T>A (p.Phe2134Tyr)
c.6218T>A (p.Phe2073Tyr)
c.5939T>A (p.Phe1980Tyr)
c.4982T>A (p.Phe1661Tyr)
c.4973T>A (p.Phe1658Tyr)
5g.37048511T>CCA359507854NIPBLc.6599T>C (p.Phe2200Ser)
c.1-16067T>C (n.1-16067T>C)
c.5855T>C (p.Phe1952Ser)
c.6401T>C (p.Phe2134Ser)
c.6218T>C (p.Phe2073Ser)
c.5939T>C (p.Phe1980Ser)
c.4982T>C (p.Phe1661Ser)
c.4973T>C (p.Phe1658Ser)
5g.37048511T>GCA359507855NIPBLc.6599T>G (p.Phe2200Cys)
c.1-16067T>G (n.1-16067T>G)
c.5855T>G (p.Phe1952Cys)
c.6401T>G (p.Phe2134Cys)
c.6218T>G (p.Phe2073Cys)
c.5939T>G (p.Phe1980Cys)
c.4982T>G (p.Phe1661Cys)
c.4973T>G (p.Phe1658Cys)
5g.37048512T>ACA359507856NIPBLc.6600T>A (p.Phe2200Leu)
c.1-16066T>A (n.1-16066T>A)
c.5856T>A (p.Phe1952Leu)
c.6402T>A (p.Phe2134Leu)
c.6219T>A (p.Phe2073Leu)
c.5940T>A (p.Phe1980Leu)
c.4983T>A (p.Phe1661Leu)
c.4974T>A (p.Phe1658Leu)
5g.37048512T>CCA443907082NIPBLc.6600T>C (p.Phe2200=)
c.1-16066T>C (n.1-16066T>C)
c.5856T>C (p.Phe1952=)
c.6402T>C (p.Phe2134=)
c.6219T>C (p.Phe2073=)
c.5940T>C (p.Phe1980=)
c.4983T>C (p.Phe1661=)
c.4974T>C (p.Phe1658=)
 dbSNP gnomAD v2 gnomAD v4
5g.37048512T>GCA359507857NIPBLc.6600T>G (p.Phe2200Leu)
c.1-16066T>G (n.1-16066T>G)
c.5856T>G (p.Phe1952Leu)
c.6402T>G (p.Phe2134Leu)
c.6219T>G (p.Phe2073Leu)
c.5940T>G (p.Phe1980Leu)
c.4983T>G (p.Phe1661Leu)
c.4974T>G (p.Phe1658Leu)
5g.37048512T=CA1539567438NIPBLc.6600T= (p.Phe2200=)
c.1-16066T= (n.1-16066T=)
c.5856T= (p.Phe1952=)
c.6402T= (p.Phe2134=)
c.6219T= (p.Phe2073=)
c.5940T= (p.Phe1980=)
c.4983T= (p.Phe1661=)
c.4974T= (p.Phe1658=)
5g.37048513A>CCA359507858NIPBLc.6601A>C (p.Ile2201Leu)
c.1-16065A>C (n.1-16065A>C)
c.5857A>C (p.Ile1953Leu)
c.6403A>C (p.Ile2135Leu)
c.6220A>C (p.Ile2074Leu)
c.5941A>C (p.Ile1981Leu)
c.4984A>C (p.Ile1662Leu)
c.4975A>C (p.Ile1659Leu)
5g.37048513A>GCA359507860NIPBLc.6601A>G (p.Ile2201Val)
c.1-16065A>G (n.1-16065A>G)
c.5857A>G (p.Ile1953Val)
c.6403A>G (p.Ile2135Val)
c.6220A>G (p.Ile2074Val)
c.5941A>G (p.Ile1981Val)
c.4984A>G (p.Ile1662Val)
c.4975A>G (p.Ile1659Val)
5g.37048513A>TCA359507862NIPBLc.6601A>T (p.Ile2201Phe)
c.1-16065A>T (n.1-16065A>T)
c.5857A>T (p.Ile1953Phe)
c.6403A>T (p.Ile2135Phe)
c.6220A>T (p.Ile2074Phe)
c.5941A>T (p.Ile1981Phe)
c.4984A>T (p.Ile1662Phe)
c.4975A>T (p.Ile1659Phe)
5g.37048514T>ACA359507863NIPBLc.6602T>A (p.Ile2201Asn)
c.1-16064T>A (n.1-16064T>A)
c.5858T>A (p.Ile1953Asn)
c.6404T>A (p.Ile2135Asn)
c.6221T>A (p.Ile2074Asn)
c.5942T>A (p.Ile1981Asn)
c.4985T>A (p.Ile1662Asn)
c.4976T>A (p.Ile1659Asn)
5g.37048514T>CCA359507865NIPBLc.6602T>C (p.Ile2201Thr)
c.1-16064T>C (n.1-16064T>C)
c.5858T>C (p.Ile1953Thr)
c.6404T>C (p.Ile2135Thr)
c.6221T>C (p.Ile2074Thr)
c.5942T>C (p.Ile1981Thr)
c.4985T>C (p.Ile1662Thr)
c.4976T>C (p.Ile1659Thr)
5g.37048514T>GCA359507867NIPBLc.6602T>G (p.Ile2201Ser)
c.1-16064T>G (n.1-16064T>G)
c.5858T>G (p.Ile1953Ser)
c.6404T>G (p.Ile2135Ser)
c.6221T>G (p.Ile2074Ser)
c.5942T>G (p.Ile1981Ser)
c.4985T>G (p.Ile1662Ser)
c.4976T>G (p.Ile1659Ser)
5g.37048515T>ACA443907083NIPBLc.6603T>A (p.Ile2201=)
c.1-16063T>A (n.1-16063T>A)
c.5859T>A (p.Ile1953=)
c.6405T>A (p.Ile2135=)
c.6222T>A (p.Ile2074=)
c.5943T>A (p.Ile1981=)
c.4986T>A (p.Ile1662=)
c.4977T>A (p.Ile1659=)
5g.37048515T>CCA443907084NIPBLc.6603T>C (p.Ile2201=)
c.1-16063T>C (n.1-16063T>C)
c.5859T>C (p.Ile1953=)
c.6405T>C (p.Ile2135=)
c.6222T>C (p.Ile2074=)
c.5943T>C (p.Ile1981=)
c.4986T>C (p.Ile1662=)
c.4977T>C (p.Ile1659=)
 gnomAD v4
5g.37048515T>GCA359507871NIPBLc.6603T>G (p.Ile2201Met)
c.1-16063T>G (n.1-16063T>G)
c.5859T>G (p.Ile1953Met)
c.6405T>G (p.Ile2135Met)
c.6222T>G (p.Ile2074Met)
c.5943T>G (p.Ile1981Met)
c.4986T>G (p.Ile1662Met)
c.4977T>G (p.Ile1659Met)
5g.37048516C>ACA359507876NIPBLc.6604C>A (p.Gln2202Lys)
c.1-16062C>A (n.1-16062C>A)
c.5860C>A (p.Gln1954Lys)
c.6406C>A (p.Gln2136Lys)
c.6223C>A (p.Gln2075Lys)
c.5944C>A (p.Gln1982Lys)
c.4987C>A (p.Gln1663Lys)
c.4978C>A (p.Gln1660Lys)
 ClinVar dbSNP gnomAD v4
5g.37048516C=CA1539567443NIPBLc.6604C= (p.Gln2202=)
c.1-16062C= (n.1-16062C=)
c.5860C= (p.Gln1954=)
c.6406C= (p.Gln2136=)
c.6223C= (p.Gln2075=)
c.5944C= (p.Gln1982=)
c.4987C= (p.Gln1663=)
c.4978C= (p.Gln1660=)
5g.37048516C>GCA359507875NIPBLc.6604C>G (p.Gln2202Glu)
c.1-16062C>G (n.1-16062C>G)
c.5860C>G (p.Gln1954Glu)
c.6406C>G (p.Gln2136Glu)
c.6223C>G (p.Gln2075Glu)
c.5944C>G (p.Gln1982Glu)
c.4987C>G (p.Gln1663Glu)
c.4978C>G (p.Gln1660Glu)
5g.37048516C>TCA359507873NIPBLc.6604C>T (p.Gln2202Ter)
c.1-16062C>T (n.1-16062C>T)
c.5860C>T (p.Gln1954Ter)
c.6406C>T (p.Gln2136Ter)
c.6223C>T (p.Gln2075Ter)
c.5944C>T (p.Gln1982Ter)
c.4987C>T (p.Gln1663Ter)
c.4978C>T (p.Gln1660Ter)
 gnomAD v4
5g.37048517A>CCA359507881NIPBLc.6605A>C (p.Gln2202Pro)
c.1-16061A>C (n.1-16061A>C)
c.5861A>C (p.Gln1954Pro)
c.6407A>C (p.Gln2136Pro)
c.6224A>C (p.Gln2075Pro)
c.5945A>C (p.Gln1982Pro)
c.4988A>C (p.Gln1663Pro)
c.4979A>C (p.Gln1660Pro)
5g.37048517A>GCA359507878NIPBLc.6605A>G (p.Gln2202Arg)
c.1-16061A>G (n.1-16061A>G)
c.5861A>G (p.Gln1954Arg)
c.6407A>G (p.Gln2136Arg)
c.6224A>G (p.Gln2075Arg)
c.5945A>G (p.Gln1982Arg)
c.4988A>G (p.Gln1663Arg)
c.4979A>G (p.Gln1660Arg)
 gnomAD v4
5g.37048517A>TCA359507880NIPBLc.6605A>T (p.Gln2202Leu)
c.1-16061A>T (n.1-16061A>T)
c.5861A>T (p.Gln1954Leu)
c.6407A>T (p.Gln2136Leu)
c.6224A>T (p.Gln2075Leu)
c.5945A>T (p.Gln1982Leu)
c.4988A>T (p.Gln1663Leu)
c.4979A>T (p.Gln1660Leu)
5g.37048518G>ACA3237036NIPBLc.6606G>A (p.Gln2202=)
c.1-16060G>A (n.1-16060G>A)
c.5862G>A (p.Gln1954=)
c.6408G>A (p.Gln2136=)
c.6225G>A (p.Gln2075=)
c.5946G>A (p.Gln1982=)
c.4989G>A (p.Gln1663=)
c.4980G>A (p.Gln1660=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37048518G>CCA359507883NIPBLc.6606G>C (p.Gln2202His)
c.1-16060G>C (n.1-16060G>C)
c.5862G>C (p.Gln1954His)
c.6408G>C (p.Gln2136His)
c.6225G>C (p.Gln2075His)
c.5946G>C (p.Gln1982His)
c.4989G>C (p.Gln1663His)
c.4980G>C (p.Gln1660His)
 gnomAD v4
5g.37048518G=CA1539567448NIPBLc.6606G= (p.Gln2202=)
c.1-16060G= (n.1-16060G=)
c.5862G= (p.Gln1954=)
c.6408G= (p.Gln2136=)
c.6225G= (p.Gln2075=)
c.5946G= (p.Gln1982=)
c.4989G= (p.Gln1663=)
c.4980G= (p.Gln1660=)
5g.37048518G>TCA359507884NIPBLc.6606G>T (p.Gln2202His)
c.1-16060G>T (n.1-16060G>T)
c.5862G>T (p.Gln1954His)
c.6408G>T (p.Gln2136His)
c.6225G>T (p.Gln2075His)
c.5946G>T (p.Gln1982His)
c.4989G>T (p.Gln1663His)
c.4980G>T (p.Gln1660His)
5g.37048519C>ACA359507885NIPBLc.6607C>A (p.His2203Asn)
c.1-16059C>A (n.1-16059C>A)
c.5863C>A (p.His1955Asn)
c.6409C>A (p.His2137Asn)
c.6226C>A (p.His2076Asn)
c.5947C>A (p.His1983Asn)
c.4990C>A (p.His1664Asn)
c.4981C>A (p.His1661Asn)
 gnomAD v4
5g.37048519C>GCA359507888NIPBLc.6607C>G (p.His2203Asp)
c.1-16059C>G (n.1-16059C>G)
c.5863C>G (p.His1955Asp)
c.6409C>G (p.His2137Asp)
c.6226C>G (p.His2076Asp)
c.5947C>G (p.His1983Asp)
c.4990C>G (p.His1664Asp)
c.4981C>G (p.His1661Asp)
5g.37048519C>TCA359507889NIPBLc.6607C>T (p.His2203Tyr)
c.1-16059C>T (n.1-16059C>T)
c.5863C>T (p.His1955Tyr)
c.6409C>T (p.His2137Tyr)
c.6226C>T (p.His2076Tyr)
c.5947C>T (p.His1983Tyr)
c.4990C>T (p.His1664Tyr)
c.4981C>T (p.His1661Tyr)
 gnomAD v4
5g.37048520A>CCA359507891NIPBLc.6608A>C (p.His2203Pro)
c.1-16058A>C (n.1-16058A>C)
c.5864A>C (p.His1955Pro)
c.6410A>C (p.His2137Pro)
c.6227A>C (p.His2076Pro)
c.5948A>C (p.His1983Pro)
c.4991A>C (p.His1664Pro)
c.4982A>C (p.His1661Pro)
5g.37048520A>GCA359507893NIPBLc.6608A>G (p.His2203Arg)
c.1-16058A>G (n.1-16058A>G)
c.5864A>G (p.His1955Arg)
c.6410A>G (p.His2137Arg)
c.6227A>G (p.His2076Arg)
c.5948A>G (p.His1983Arg)
c.4991A>G (p.His1664Arg)
c.4982A>G (p.His1661Arg)
 gnomAD v4
5g.37048520A>TCA359507896NIPBLc.6608A>T (p.His2203Leu)
c.1-16058A>T (n.1-16058A>T)
c.5864A>T (p.His1955Leu)
c.6410A>T (p.His2137Leu)
c.6227A>T (p.His2076Leu)
c.5948A>T (p.His1983Leu)
c.4991A>T (p.His1664Leu)
c.4982A>T (p.His1661Leu)
5g.37048521T>ACA359507898NIPBLc.6609T>A (p.His2203Gln)
c.1-16057T>A (n.1-16057T>A)
c.5865T>A (p.His1955Gln)
c.6411T>A (p.His2137Gln)
c.6228T>A (p.His2076Gln)
c.5949T>A (p.His1983Gln)
c.4992T>A (p.His1664Gln)
c.4983T>A (p.His1661Gln)
5g.37048521T>CCA443907085NIPBLc.6609T>C (p.His2203=)
c.1-16057T>C (n.1-16057T>C)
c.5865T>C (p.His1955=)
c.6411T>C (p.His2137=)
c.6228T>C (p.His2076=)
c.5949T>C (p.His1983=)
c.4992T>C (p.His1664=)
c.4983T>C (p.His1661=)
 gnomAD v4
5g.37048521T>GCA359507899NIPBLc.6609T>G (p.His2203Gln)
c.1-16057T>G (n.1-16057T>G)
c.5865T>G (p.His1955Gln)
c.6411T>G (p.His2137Gln)
c.6228T>G (p.His2076Gln)
c.5949T>G (p.His1983Gln)
c.4992T>G (p.His1664Gln)
c.4983T>G (p.His1661Gln)
5g.37048522C>ACA359507905NIPBLc.6610C>A (p.Pro2204Thr)
c.1-16056C>A (n.1-16056C>A)
c.5866C>A (p.Pro1956Thr)
c.6412C>A (p.Pro2138Thr)
c.6229C>A (p.Pro2077Thr)
c.5950C>A (p.Pro1984Thr)
c.4993C>A (p.Pro1665Thr)
c.4984C>A (p.Pro1662Thr)
5g.37048522C>GCA359507901NIPBLc.6610C>G (p.Pro2204Ala)
c.1-16056C>G (n.1-16056C>G)
c.5866C>G (p.Pro1956Ala)
c.6412C>G (p.Pro2138Ala)
c.6229C>G (p.Pro2077Ala)
c.5950C>G (p.Pro1984Ala)
c.4993C>G (p.Pro1665Ala)
c.4984C>G (p.Pro1662Ala)
5g.37048522C>TCA359507902NIPBLc.6610C>T (p.Pro2204Ser)
c.1-16056C>T (n.1-16056C>T)
c.5866C>T (p.Pro1956Ser)
c.6412C>T (p.Pro2138Ser)
c.6229C>T (p.Pro2077Ser)
c.5950C>T (p.Pro1984Ser)
c.4993C>T (p.Pro1665Ser)
c.4984C>T (p.Pro1662Ser)
 COSMIC COSMIC
5g.37048523C>ACA359507907NIPBLc.6611C>A (p.Pro2204Gln)
c.1-16055C>A (n.1-16055C>A)
c.5867C>A (p.Pro1956Gln)
c.6413C>A (p.Pro2138Gln)
c.6230C>A (p.Pro2077Gln)
c.5951C>A (p.Pro1984Gln)
c.4994C>A (p.Pro1665Gln)
c.4985C>A (p.Pro1662Gln)
 gnomAD v4
5g.37048523C=CA1539567451NIPBLc.6611C= (p.Pro2204=)
c.1-16055C= (n.1-16055C=)
c.5867C= (p.Pro1956=)
c.6413C= (p.Pro2138=)
c.6230C= (p.Pro2077=)
c.5951C= (p.Pro1984=)
c.4994C= (p.Pro1665=)
c.4985C= (p.Pro1662=)
5g.37048523C>GCA359507908NIPBLc.6611C>G (p.Pro2204Arg)
c.1-16055C>G (n.1-16055C>G)
c.5867C>G (p.Pro1956Arg)
c.6413C>G (p.Pro2138Arg)
c.6230C>G (p.Pro2077Arg)
c.5951C>G (p.Pro1984Arg)
c.4994C>G (p.Pro1665Arg)
c.4985C>G (p.Pro1662Arg)
 dbSNP
5g.37048523C>TCA359507909NIPBLc.6611C>T (p.Pro2204Leu)
c.1-16055C>T (n.1-16055C>T)
c.5867C>T (p.Pro1956Leu)
c.6413C>T (p.Pro2138Leu)
c.6230C>T (p.Pro2077Leu)
c.5951C>T (p.Pro1984Leu)
c.4994C>T (p.Pro1665Leu)
c.4985C>T (p.Pro1662Leu)
5g.37048524A>CCA443907086NIPBLc.6612A>C (p.Pro2204=)
c.1-16054A>C (n.1-16054A>C)
c.5868A>C (p.Pro1956=)
c.6414A>C (p.Pro2138=)
c.6231A>C (p.Pro2077=)
c.5952A>C (p.Pro1984=)
c.4995A>C (p.Pro1665=)
c.4986A>C (p.Pro1662=)
5g.37048524A>GCA443907087NIPBLc.6612A>G (p.Pro2204=)
c.1-16054A>G (n.1-16054A>G)
c.5868A>G (p.Pro1956=)
c.6414A>G (p.Pro2138=)
c.6231A>G (p.Pro2077=)
c.5952A>G (p.Pro1984=)
c.4995A>G (p.Pro1665=)
c.4986A>G (p.Pro1662=)
 gnomAD v4
5g.37048524A>TCA443907088NIPBLc.6612A>T (p.Pro2204=)
c.1-16054A>T (n.1-16054A>T)
c.5868A>T (p.Pro1956=)
c.6414A>T (p.Pro2138=)
c.6231A>T (p.Pro2077=)
c.5952A>T (p.Pro1984=)
c.4995A>T (p.Pro1665=)
c.4986A>T (p.Pro1662=)
5g.37048525A=CA1539567455NIPBLc.6613A= (p.Ser2205=)
c.1-16053A= (n.1-16053A=)
c.5869A= (p.Ser1957=)
c.6415A= (p.Ser2139=)
c.6232A= (p.Ser2078=)
c.5953A= (p.Ser1985=)
c.4996A= (p.Ser1666=)
c.4987A= (p.Ser1663=)
5g.37048525A>CCA359507910NIPBLc.6613A>C (p.Ser2205Arg)
c.1-16053A>C (n.1-16053A>C)
c.5869A>C (p.Ser1957Arg)
c.6415A>C (p.Ser2139Arg)
c.6232A>C (p.Ser2078Arg)
c.5953A>C (p.Ser1985Arg)
c.4996A>C (p.Ser1666Arg)
c.4987A>C (p.Ser1663Arg)
5g.37048525A>GCA172749NIPBLc.6613A>G (p.Ser2205Gly)
c.1-16053A>G (n.1-16053A>G)
c.5869A>G (p.Ser1957Gly)
c.6415A>G (p.Ser2139Gly)
c.6232A>G (p.Ser2078Gly)
c.5953A>G (p.Ser1985Gly)
c.4996A>G (p.Ser1666Gly)
c.4987A>G (p.Ser1663Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37048525A>TCA3237037NIPBLc.6613A>T (p.Ser2205Cys)
c.1-16053A>T (n.1-16053A>T)
c.5869A>T (p.Ser1957Cys)
c.6415A>T (p.Ser2139Cys)
c.6232A>T (p.Ser2078Cys)
c.5953A>T (p.Ser1985Cys)
c.4996A>T (p.Ser1666Cys)
c.4987A>T (p.Ser1663Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37048526G>ACA359507913NIPBLc.6614G>A (p.Ser2205Asn)
c.1-16052G>A (n.1-16052G>A)
c.5870G>A (p.Ser1957Asn)
c.6416G>A (p.Ser2139Asn)
c.6233G>A (p.Ser2078Asn)
c.5954G>A (p.Ser1985Asn)
c.4997G>A (p.Ser1666Asn)
c.4988G>A (p.Ser1663Asn)
 gnomAD v4
5g.37048526G>CCA359507914NIPBLc.6614G>C (p.Ser2205Thr)
c.1-16052G>C (n.1-16052G>C)
c.5870G>C (p.Ser1957Thr)
c.6416G>C (p.Ser2139Thr)
c.6233G>C (p.Ser2078Thr)
c.5954G>C (p.Ser1985Thr)
c.4997G>C (p.Ser1666Thr)
c.4988G>C (p.Ser1663Thr)
5g.37048526G>TCA359507915NIPBLc.6614G>T (p.Ser2205Ile)
c.1-16052G>T (n.1-16052G>T)
c.5870G>T (p.Ser1957Ile)
c.6416G>T (p.Ser2139Ile)
c.6233G>T (p.Ser2078Ile)
c.5954G>T (p.Ser1985Ile)
c.4997G>T (p.Ser1666Ile)
c.4988G>T (p.Ser1663Ile)
5g.37048527T>ACA359507916NIPBLc.6615T>A (p.Ser2205Arg)
c.1-16051T>A (n.1-16051T>A)
c.5871T>A (p.Ser1957Arg)
c.6417T>A (p.Ser2139Arg)
c.6234T>A (p.Ser2078Arg)
c.5955T>A (p.Ser1985Arg)
c.4998T>A (p.Ser1666Arg)
c.4989T>A (p.Ser1663Arg)
5g.37048527T>CCA443907089NIPBLc.6615T>C (p.Ser2205=)
c.1-16051T>C (n.1-16051T>C)
c.5871T>C (p.Ser1957=)
c.6417T>C (p.Ser2139=)
c.6234T>C (p.Ser2078=)
c.5955T>C (p.Ser1985=)
c.4998T>C (p.Ser1666=)
c.4989T>C (p.Ser1663=)
5g.37048527T>GCA359507917NIPBLc.6615T>G (p.Ser2205Arg)
c.1-16051T>G (n.1-16051T>G)
c.5871T>G (p.Ser1957Arg)
c.6417T>G (p.Ser2139Arg)
c.6234T>G (p.Ser2078Arg)
c.5955T>G (p.Ser1985Arg)
c.4998T>G (p.Ser1666Arg)
c.4989T>G (p.Ser1663Arg)
5g.37048528C>ACA359507918NIPBLc.6616C>A (p.Leu2206Ile)
c.1-16050C>A (n.1-16050C>A)
c.5872C>A (p.Leu1958Ile)
c.6418C>A (p.Leu2140Ile)
c.6235C>A (p.Leu2079Ile)
c.5956C>A (p.Leu1986Ile)
c.4999C>A (p.Leu1667Ile)
c.4990C>A (p.Leu1664Ile)
 gnomAD v4
5g.37048528C>GCA359507920NIPBLc.6616C>G (p.Leu2206Val)
c.1-16050C>G (n.1-16050C>G)
c.5872C>G (p.Leu1958Val)
c.6418C>G (p.Leu2140Val)
c.6235C>G (p.Leu2079Val)
c.5956C>G (p.Leu1986Val)
c.4999C>G (p.Leu1667Val)
c.4990C>G (p.Leu1664Val)
5g.37048528C>TCA443907090NIPBLc.6616C>T (p.Leu2206=)
c.1-16050C>T (n.1-16050C>T)
c.5872C>T (p.Leu1958=)
c.6418C>T (p.Leu2140=)
c.6235C>T (p.Leu2079=)
c.5956C>T (p.Leu1986=)
c.4999C>T (p.Leu1667=)
c.4990C>T (p.Leu1664=)
5g.37048529T>ACA359507923NIPBLc.6617T>A (p.Leu2206Gln)
c.1-16049T>A (n.1-16049T>A)
c.5873T>A (p.Leu1958Gln)
c.6419T>A (p.Leu2140Gln)
c.6236T>A (p.Leu2079Gln)
c.5957T>A (p.Leu1986Gln)
c.5000T>A (p.Leu1667Gln)
c.4991T>A (p.Leu1664Gln)
5g.37048529T>CCA359507924NIPBLc.6617T>C (p.Leu2206Pro)
c.1-16049T>C (n.1-16049T>C)
c.5873T>C (p.Leu1958Pro)
c.6419T>C (p.Leu2140Pro)
c.6236T>C (p.Leu2079Pro)
c.5957T>C (p.Leu1986Pro)
c.5000T>C (p.Leu1667Pro)
c.4991T>C (p.Leu1664Pro)
 gnomAD v4
5g.37048529T>GCA359507922NIPBLc.6617T>G (p.Leu2206Arg)
c.1-16049T>G (n.1-16049T>G)
c.5873T>G (p.Leu1958Arg)
c.6419T>G (p.Leu2140Arg)
c.6236T>G (p.Leu2079Arg)
c.5957T>G (p.Leu1986Arg)
c.5000T>G (p.Leu1667Arg)
c.4991T>G (p.Leu1664Arg)
5g.37048530A>CCA443907091NIPBLc.6618A>C (p.Leu2206=)
c.1-16048A>C (n.1-16048A>C)
c.5874A>C (p.Leu1958=)
c.6420A>C (p.Leu2140=)
c.6237A>C (p.Leu2079=)
c.5958A>C (p.Leu1986=)
c.5001A>C (p.Leu1667=)
c.4992A>C (p.Leu1664=)
 gnomAD v4
5g.37048530A>GCA443907092NIPBLc.6618A>G (p.Leu2206=)
c.1-16048A>G (n.1-16048A>G)
c.5874A>G (p.Leu1958=)
c.6420A>G (p.Leu2140=)
c.6237A>G (p.Leu2079=)
c.5958A>G (p.Leu1986=)
c.5001A>G (p.Leu1667=)
c.4992A>G (p.Leu1664=)
 gnomAD v4
5g.37048530A>TCA443907093NIPBLc.6618A>T (p.Leu2206=)
c.1-16048A>T (n.1-16048A>T)
c.5874A>T (p.Leu1958=)
c.6420A>T (p.Leu2140=)
c.6237A>T (p.Leu2079=)
c.5958A>T (p.Leu1986=)
c.5001A>T (p.Leu1667=)
c.4992A>T (p.Leu1664=)
5g.37048531A>CCA359507925NIPBLc.6619A>C (p.Met2207Leu)
c.1-16047A>C (n.1-16047A>C)
c.5875A>C (p.Met1959Leu)
c.6421A>C (p.Met2141Leu)
c.6238A>C (p.Met2080Leu)
c.5959A>C (p.Met1987Leu)
c.5002A>C (p.Met1668Leu)
c.4993A>C (p.Met1665Leu)
5g.37048531A>GCA359507928NIPBLc.6619A>G (p.Met2207Val)
c.1-16047A>G (n.1-16047A>G)
c.5875A>G (p.Met1959Val)
c.6421A>G (p.Met2141Val)
c.6238A>G (p.Met2080Val)
c.5959A>G (p.Met1987Val)
c.5002A>G (p.Met1668Val)
c.4993A>G (p.Met1665Val)
 gnomAD v4
5g.37048531A>TCA359507926NIPBLc.6619A>T (p.Met2207Leu)
c.1-16047A>T (n.1-16047A>T)
c.5875A>T (p.Met1959Leu)
c.6421A>T (p.Met2141Leu)
c.6238A>T (p.Met2080Leu)
c.5959A>T (p.Met1987Leu)
c.5002A>T (p.Met1668Leu)
c.4993A>T (p.Met1665Leu)
 COSMIC COSMIC
5g.37048532T>ACA359507929NIPBLc.6620T>A (p.Met2207Lys)
c.1-16046T>A (n.1-16046T>A)
c.5876T>A (p.Met1959Lys)
c.6422T>A (p.Met2141Lys)
c.6239T>A (p.Met2080Lys)
c.5960T>A (p.Met1987Lys)
c.5003T>A (p.Met1668Lys)
c.4994T>A (p.Met1665Lys)
5g.37048532T>CCA359507931NIPBLc.6620T>C (p.Met2207Thr)
c.1-16046T>C (n.1-16046T>C)
c.5876T>C (p.Met1959Thr)
c.6422T>C (p.Met2141Thr)
c.6239T>C (p.Met2080Thr)
c.5960T>C (p.Met1987Thr)
c.5003T>C (p.Met1668Thr)
c.4994T>C (p.Met1665Thr)
 ClinVar dbSNP
5g.37048532T>GCA359507933NIPBLc.6620T>G (p.Met2207Arg)
c.1-16046T>G (n.1-16046T>G)
c.5876T>G (p.Met1959Arg)
c.6422T>G (p.Met2141Arg)
c.6239T>G (p.Met2080Arg)
c.5960T>G (p.Met1987Arg)
c.5003T>G (p.Met1668Arg)
c.4994T>G (p.Met1665Arg)
5g.37048532T=CA1539567458NIPBLc.6620T= (p.Met2207=)
c.1-16046T= (n.1-16046T=)
c.5876T= (p.Met1959=)
c.6422T= (p.Met2141=)
c.6239T= (p.Met2080=)
c.5960T= (p.Met1987=)
c.5003T= (p.Met1668=)
c.4994T= (p.Met1665=)
5g.37048533G>ACA359507935NIPBLc.6621G>A (p.Met2207Ile)
c.1-16045G>A (n.1-16045G>A)
c.5877G>A (p.Met1959Ile)
c.6423G>A (p.Met2141Ile)
c.6240G>A (p.Met2080Ile)
c.5961G>A (p.Met1987Ile)
c.5004G>A (p.Met1668Ile)
c.4995G>A (p.Met1665Ile)
 gnomAD v4
5g.37048533G>CCA359507938NIPBLc.6621G>C (p.Met2207Ile)
c.1-16045G>C (n.1-16045G>C)
c.5877G>C (p.Met1959Ile)
c.6423G>C (p.Met2141Ile)
c.6240G>C (p.Met2080Ile)
c.5961G>C (p.Met1987Ile)
c.5004G>C (p.Met1668Ile)
c.4995G>C (p.Met1665Ile)
5g.37048533G>TCA359507940NIPBLc.6621G>T (p.Met2207Ile)
c.1-16045G>T (n.1-16045G>T)
c.5877G>T (p.Met1959Ile)
c.6423G>T (p.Met2141Ile)
c.6240G>T (p.Met2080Ile)
c.5961G>T (p.Met1987Ile)
c.5004G>T (p.Met1668Ile)
c.4995G>T (p.Met1665Ile)
 gnomAD v4
5g.37048534T>ACA359507943NIPBLc.6622T>A (p.Phe2208Ile)
c.1-16044T>A (n.1-16044T>A)
c.5878T>A (p.Phe1960Ile)
c.6424T>A (p.Phe2142Ile)
c.6241T>A (p.Phe2081Ile)
c.5962T>A (p.Phe1988Ile)
c.5005T>A (p.Phe1669Ile)
c.4996T>A (p.Phe1666Ile)
5g.37048534T>CCA359507945NIPBLc.6622T>C (p.Phe2208Leu)
c.1-16044T>C (n.1-16044T>C)
c.5878T>C (p.Phe1960Leu)
c.6424T>C (p.Phe2142Leu)
c.6241T>C (p.Phe2081Leu)
c.5962T>C (p.Phe1988Leu)
c.5005T>C (p.Phe1669Leu)
c.4996T>C (p.Phe1666Leu)
5g.37048534T>GCA359507948NIPBLc.6622T>G (p.Phe2208Val)
c.1-16044T>G (n.1-16044T>G)
c.5878T>G (p.Phe1960Val)
c.6424T>G (p.Phe2142Val)
c.6241T>G (p.Phe2081Val)
c.5962T>G (p.Phe1988Val)
c.5005T>G (p.Phe1669Val)
c.4996T>G (p.Phe1666Val)
5g.37048535T>ACA359507949NIPBLc.6623T>A (p.Phe2208Tyr)
c.1-16043T>A (n.1-16043T>A)
c.5879T>A (p.Phe1960Tyr)
c.6425T>A (p.Phe2142Tyr)
c.6242T>A (p.Phe2081Tyr)
c.5963T>A (p.Phe1988Tyr)
c.5006T>A (p.Phe1669Tyr)
c.4997T>A (p.Phe1666Tyr)
5g.37048535T>CCA359507951NIPBLc.6623T>C (p.Phe2208Ser)
c.1-16043T>C (n.1-16043T>C)
c.5879T>C (p.Phe1960Ser)
c.6425T>C (p.Phe2142Ser)
c.6242T>C (p.Phe2081Ser)
c.5963T>C (p.Phe1988Ser)
c.5006T>C (p.Phe1669Ser)
c.4997T>C (p.Phe1666Ser)
5g.37048535T>GCA359507954NIPBLc.6623T>G (p.Phe2208Cys)
c.1-16043T>G (n.1-16043T>G)
c.5879T>G (p.Phe1960Cys)
c.6425T>G (p.Phe2142Cys)
c.6242T>G (p.Phe2081Cys)
c.5963T>G (p.Phe1988Cys)
c.5006T>G (p.Phe1669Cys)
c.4997T>G (p.Phe1666Cys)
5g.37048536C>ACA359507961NIPBLc.6624C>A (p.Phe2208Leu)
c.1-16042C>A (n.1-16042C>A)
c.5880C>A (p.Phe1960Leu)
c.6426C>A (p.Phe2142Leu)
c.6243C>A (p.Phe2081Leu)
c.5964C>A (p.Phe1988Leu)
c.5007C>A (p.Phe1669Leu)
c.4998C>A (p.Phe1666Leu)
 gnomAD v4
5g.37048536C=CA1539567461NIPBLc.6624C= (p.Phe2208=)
c.1-16042C= (n.1-16042C=)
c.5880C= (p.Phe1960=)
c.6426C= (p.Phe2142=)
c.6243C= (p.Phe2081=)
c.5964C= (p.Phe1988=)
c.5007C= (p.Phe1669=)
c.4998C= (p.Phe1666=)
5g.37048536C>GCA359507957NIPBLc.6624C>G (p.Phe2208Leu)
c.1-16042C>G (n.1-16042C>G)
c.5880C>G (p.Phe1960Leu)
c.6426C>G (p.Phe2142Leu)
c.6243C>G (p.Phe2081Leu)
c.5964C>G (p.Phe1988Leu)
c.5007C>G (p.Phe1669Leu)
c.4998C>G (p.Phe1666Leu)
5g.37048536C>TCA3237038NIPBLc.6624C>T (p.Phe2208=)
c.1-16042C>T (n.1-16042C>T)
c.5880C>T (p.Phe1960=)
c.6426C>T (p.Phe2142=)
c.6243C>T (p.Phe2081=)
c.5964C>T (p.Phe1988=)
c.5007C>T (p.Phe1669=)
c.4998C>T (p.Phe1666=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37048537G>ACA3237039NIPBLc.6625G>A (p.Glu2209Lys)
c.1-16041G>A (n.1-16041G>A)
c.5881G>A (p.Glu1961Lys)
c.6427G>A (p.Glu2143Lys)
c.6244G>A (p.Glu2082Lys)
c.5965G>A (p.Glu1989Lys)
c.5008G>A (p.Glu1670Lys)
c.4999G>A (p.Glu1667Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37048537G>CCA359507966NIPBLc.6625G>C (p.Glu2209Gln)
c.1-16041G>C (n.1-16041G>C)
c.5881G>C (p.Glu1961Gln)
c.6427G>C (p.Glu2143Gln)
c.6244G>C (p.Glu2082Gln)
c.5965G>C (p.Glu1989Gln)
c.5008G>C (p.Glu1670Gln)
c.4999G>C (p.Glu1667Gln)
5g.37048537G=CA1539567467NIPBLc.6625G= (p.Glu2209=)
c.1-16041G= (n.1-16041G=)
c.5881G= (p.Glu1961=)
c.6427G= (p.Glu2143=)
c.6244G= (p.Glu2082=)
c.5965G= (p.Glu1989=)
c.5008G= (p.Glu1670=)
c.4999G= (p.Glu1667=)
5g.37048537G>TCA359507969NIPBLc.6625G>T (p.Glu2209Ter)
c.1-16041G>T (n.1-16041G>T)
c.5881G>T (p.Glu1961Ter)
c.6427G>T (p.Glu2143Ter)
c.6244G>T (p.Glu2082Ter)
c.5965G>T (p.Glu1989Ter)
c.5008G>T (p.Glu1670Ter)
c.4999G>T (p.Glu1667Ter)
 gnomAD v4
5g.37048538A=CA1539567475NIPBLc.6626A= (p.Glu2209=)
c.1-16040A= (n.1-16040A=)
c.5882A= (p.Glu1961=)
c.6428A= (p.Glu2143=)
c.6245A= (p.Glu2082=)
c.5966A= (p.Glu1989=)
c.5009A= (p.Glu1670=)
c.5000A= (p.Glu1667=)
5g.37048538A>CCA359507971NIPBLc.6626A>C (p.Glu2209Ala)
c.1-16040A>C (n.1-16040A>C)
c.5882A>C (p.Glu1961Ala)
c.6428A>C (p.Glu2143Ala)
c.6245A>C (p.Glu2082Ala)
c.5966A>C (p.Glu1989Ala)
c.5009A>C (p.Glu1670Ala)
c.5000A>C (p.Glu1667Ala)
5g.37048538A>GCA359507974NIPBLc.6626A>G (p.Glu2209Gly)
c.1-16040A>G (n.1-16040A>G)
c.5882A>G (p.Glu1961Gly)
c.6428A>G (p.Glu2143Gly)
c.6245A>G (p.Glu2082Gly)
c.5966A>G (p.Glu1989Gly)
c.5009A>G (p.Glu1670Gly)
c.5000A>G (p.Glu1667Gly)
 gnomAD v4
5g.37048538A>TCA359507977NIPBLc.6626A>T (p.Glu2209Val)
c.1-16040A>T (n.1-16040A>T)
c.5882A>T (p.Glu1961Val)
c.6428A>T (p.Glu2143Val)
c.6245A>T (p.Glu2082Val)
c.5966A>T (p.Glu1989Val)
c.5009A>T (p.Glu1670Val)
c.5000A>T (p.Glu1667Val)
 dbSNP gnomAD v2 gnomAD v4
5g.37048539G>ACA443907094NIPBLc.6627G>A (p.Glu2209=)
c.1-16039G>A (n.1-16039G>A)
c.5883G>A (p.Glu1961=)
c.6429G>A (p.Glu2143=)
c.6246G>A (p.Glu2082=)
c.5967G>A (p.Glu1989=)
c.5010G>A (p.Glu1670=)
c.5001G>A (p.Glu1667=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37048539G>CCA359507980NIPBLc.6627G>C (p.Glu2209Asp)
c.1-16039G>C (n.1-16039G>C)
c.5883G>C (p.Glu1961Asp)
c.6429G>C (p.Glu2143Asp)
c.6246G>C (p.Glu2082Asp)
c.5967G>C (p.Glu1989Asp)
c.5010G>C (p.Glu1670Asp)
c.5001G>C (p.Glu1667Asp)
5g.37048539G=CA1539567483NIPBLc.6627G= (p.Glu2209=)
c.1-16039G= (n.1-16039G=)
c.5883G= (p.Glu1961=)
c.6429G= (p.Glu2143=)
c.6246G= (p.Glu2082=)
c.5967G= (p.Glu1989=)
c.5010G= (p.Glu1670=)
c.5001G= (p.Glu1667=)
5g.37048539G>TCA359507983NIPBLc.6627G>T (p.Glu2209Asp)
c.1-16039G>T (n.1-16039G>T)
c.5883G>T (p.Glu1961Asp)
c.6429G>T (p.Glu2143Asp)
c.6246G>T (p.Glu2082Asp)
c.5967G>T (p.Glu1989Asp)
c.5010G>T (p.Glu1670Asp)
c.5001G>T (p.Glu1667Asp)
 gnomAD v4
5g.37048540C>ACA359507986NIPBLc.6628C>A (p.Gln2210Lys)
c.1-16038C>A (n.1-16038C>A)
c.5884C>A (p.Gln1962Lys)
c.6430C>A (p.Gln2144Lys)
c.6247C>A (p.Gln2083Lys)
c.5968C>A (p.Gln1990Lys)
c.5011C>A (p.Gln1671Lys)
c.5002C>A (p.Gln1668Lys)
 gnomAD v4
5g.37048540C>GCA359507989NIPBLc.6628C>G (p.Gln2210Glu)
c.1-16038C>G (n.1-16038C>G)
c.5884C>G (p.Gln1962Glu)
c.6430C>G (p.Gln2144Glu)
c.6247C>G (p.Gln2083Glu)
c.5968C>G (p.Gln1990Glu)
c.5011C>G (p.Gln1671Glu)
c.5002C>G (p.Gln1668Glu)
5g.37048540C>TCA359507991NIPBLc.6628C>T (p.Gln2210Ter)
c.1-16038C>T (n.1-16038C>T)
c.5884C>T (p.Gln1962Ter)
c.6430C>T (p.Gln2144Ter)
c.6247C>T (p.Gln2083Ter)
c.5968C>T (p.Gln1990Ter)
c.5011C>T (p.Gln1671Ter)
c.5002C>T (p.Gln1668Ter)
5g.37048540_37048543delinsCAAGCA1539567491NIPBLc.6628_6631delinsCAAG (p.Gln2210=)
c.1-16038_1-16035delinsCAAG (n.1-16038_1-16035delinsCAAG)
c.5884_5887delinsCAAG (p.Gln1962=)
c.6430_6433delinsCAAG (p.Gln2144=)
c.6247_6250delinsCAAG (p.Gln2083=)
c.5968_5971delinsCAAG (p.Gln1990=)
c.5011_5014delinsCAAG (p.Gln1671=)
c.5002_5005delinsCAAG (p.Gln1668=)
5g.37048541A>CCA359508000NIPBLc.6629A>C (p.Gln2210Pro)
c.1-16037A>C (n.1-16037A>C)
c.5885A>C (p.Gln1962Pro)
c.6431A>C (p.Gln2144Pro)
c.6248A>C (p.Gln2083Pro)
c.5969A>C (p.Gln1990Pro)
c.5012A>C (p.Gln1671Pro)
c.5003A>C (p.Gln1668Pro)
5g.37048541A>GCA359507995NIPBLc.6629A>G (p.Gln2210Arg)
c.1-16037A>G (n.1-16037A>G)
c.5885A>G (p.Gln1962Arg)
c.6431A>G (p.Gln2144Arg)
c.6248A>G (p.Gln2083Arg)
c.5969A>G (p.Gln1990Arg)
c.5012A>G (p.Gln1671Arg)
c.5003A>G (p.Gln1668Arg)
5g.37048541A>TCA359507998NIPBLc.6629A>T (p.Gln2210Leu)
c.1-16037A>T (n.1-16037A>T)
c.5885A>T (p.Gln1962Leu)
c.6431A>T (p.Gln2144Leu)
c.6248A>T (p.Gln2083Leu)
c.5969A>T (p.Gln1990Leu)
c.5012A>T (p.Gln1671Leu)
c.5003A>T (p.Gln1668Leu)
5g.37048544_37048546delCA272248NIPBLc.6632_6634del (p.Glu2211del)
c.1-16034_1-16032del (n.1-16034_1-16032del)
c.5888_5890del (p.Glu1963del)
c.6434_6436del (p.Glu2145del)
c.6251_6253del (p.Glu2084del)
c.5972_5974del (p.Glu1991del)
c.5015_5017del (p.Glu1672del)
c.5006_5008del (p.Glu1669del)
 ClinVar dbSNP
5g.37048542A>CCA359508003NIPBLc.6630A>C (p.Gln2210His)
c.1-16036A>C (n.1-16036A>C)
c.5886A>C (p.Gln1962His)
c.6432A>C (p.Gln2144His)
c.6249A>C (p.Gln2083His)
c.5970A>C (p.Gln1990His)
c.5013A>C (p.Gln1671His)
c.5004A>C (p.Gln1668His)
5g.37048542A>GCA443907095NIPBLc.6630A>G (p.Gln2210=)
c.1-16036A>G (n.1-16036A>G)
c.5886A>G (p.Gln1962=)
c.6432A>G (p.Gln2144=)
c.6249A>G (p.Gln2083=)
c.5970A>G (p.Gln1990=)
c.5013A>G (p.Gln1671=)
c.5004A>G (p.Gln1668=)
 gnomAD v4
5g.37048542A>TCA359508006NIPBLc.6630A>T (p.Gln2210His)
c.1-16036A>T (n.1-16036A>T)
c.5886A>T (p.Gln1962His)
c.6432A>T (p.Gln2144His)
c.6249A>T (p.Gln2083His)
c.5970A>T (p.Gln1990His)
c.5013A>T (p.Gln1671His)
c.5004A>T (p.Gln1668His)
5g.37048543G>ACA359508008NIPBLc.6631G>A (p.Glu2211Lys)
c.1-16035G>A (n.1-16035G>A)
c.5887G>A (p.Glu1963Lys)
c.6433G>A (p.Glu2145Lys)
c.6250G>A (p.Glu2084Lys)
c.5971G>A (p.Glu1991Lys)
c.5014G>A (p.Glu1672Lys)
c.5005G>A (p.Glu1669Lys)
 gnomAD v4
5g.37048543G>CCA359508010NIPBLc.6631G>C (p.Glu2211Gln)
c.1-16035G>C (n.1-16035G>C)
c.5887G>C (p.Glu1963Gln)
c.6433G>C (p.Glu2145Gln)
c.6250G>C (p.Glu2084Gln)
c.5971G>C (p.Glu1991Gln)
c.5014G>C (p.Glu1672Gln)
c.5005G>C (p.Glu1669Gln)
5g.37048543G=CA1539567498NIPBLc.6631G= (p.Glu2211=)
c.1-16035G= (n.1-16035G=)
c.5887G= (p.Glu1963=)
c.6433G= (p.Glu2145=)
c.6250G= (p.Glu2084=)
c.5971G= (p.Glu1991=)
c.5014G= (p.Glu1672=)
c.5005G= (p.Glu1669=)
5g.37048543G>TCA267553NIPBLc.6631G>T (p.Glu2211Ter)
c.1-16035G>T (n.1-16035G>T)
c.5887G>T (p.Glu1963Ter)
c.6433G>T (p.Glu2145Ter)
c.6250G>T (p.Glu2084Ter)
c.5971G>T (p.Glu1991Ter)
c.5014G>T (p.Glu1672Ter)
c.5005G>T (p.Glu1669Ter)
 ClinVar dbSNP
5g.37048544A>CCA359508016NIPBLc.6632A>C (p.Glu2211Ala)
c.1-16034A>C (n.1-16034A>C)
c.5888A>C (p.Glu1963Ala)
c.6434A>C (p.Glu2145Ala)
c.6251A>C (p.Glu2084Ala)
c.5972A>C (p.Glu1991Ala)
c.5015A>C (p.Glu1672Ala)
c.5006A>C (p.Glu1669Ala)
5g.37048544A>GCA359508015NIPBLc.6632A>G (p.Glu2211Gly)
c.1-16034A>G (n.1-16034A>G)
c.5888A>G (p.Glu1963Gly)
c.6434A>G (p.Glu2145Gly)
c.6251A>G (p.Glu2084Gly)
c.5972A>G (p.Glu1991Gly)
c.5015A>G (p.Glu1672Gly)
c.5006A>G (p.Glu1669Gly)
 gnomAD v4
5g.37048544A>TCA359508013NIPBLc.6632A>T (p.Glu2211Val)
c.1-16034A>T (n.1-16034A>T)
c.5888A>T (p.Glu1963Val)
c.6434A>T (p.Glu2145Val)
c.6251A>T (p.Glu2084Val)
c.5972A>T (p.Glu1991Val)
c.5015A>T (p.Glu1672Val)
c.5006A>T (p.Glu1669Val)
5g.37048545A>CCA359508018NIPBLc.6633A>C (p.Glu2211Asp)
c.1-16033A>C (n.1-16033A>C)
c.5889A>C (p.Glu1963Asp)
c.6435A>C (p.Glu2145Asp)
c.6252A>C (p.Glu2084Asp)
c.5973A>C (p.Glu1991Asp)
c.5016A>C (p.Glu1672Asp)
c.5007A>C (p.Glu1669Asp)
5g.37048545A>GCA443907096NIPBLc.6633A>G (p.Glu2211=)
c.1-16033A>G (n.1-16033A>G)
c.5889A>G (p.Glu1963=)
c.6435A>G (p.Glu2145=)
c.6252A>G (p.Glu2084=)
c.5973A>G (p.Glu1991=)
c.5016A>G (p.Glu1672=)
c.5007A>G (p.Glu1669=)
 gnomAD v4
5g.37048545A>TCA359508020NIPBLc.6633A>T (p.Glu2211Asp)
c.1-16033A>T (n.1-16033A>T)
c.5889A>T (p.Glu1963Asp)
c.6435A>T (p.Glu2145Asp)
c.6252A>T (p.Glu2084Asp)
c.5973A>T (p.Glu1991Asp)
c.5016A>T (p.Glu1672Asp)
c.5007A>T (p.Glu1669Asp)
5g.37048546G>ACA359508023NIPBLc.6634G>A (p.Val2212Met)
c.1-16032G>A (n.1-16032G>A)
c.5890G>A (p.Val1964Met)
c.6436G>A (p.Val2146Met)
c.6253G>A (p.Val2085Met)
c.5974G>A (p.Val1992Met)
c.5017G>A (p.Val1673Met)
c.5008G>A (p.Val1670Met)
5g.37048546G>CCA359508025NIPBLc.6634G>C (p.Val2212Leu)
c.1-16032G>C (n.1-16032G>C)
c.5890G>C (p.Val1964Leu)
c.6436G>C (p.Val2146Leu)
c.6253G>C (p.Val2085Leu)
c.5974G>C (p.Val1992Leu)
c.5017G>C (p.Val1673Leu)
c.5008G>C (p.Val1670Leu)
5g.37048546G>TCA359508027NIPBLc.6634G>T (p.Val2212Leu)
c.1-16032G>T (n.1-16032G>T)
c.5890G>T (p.Val1964Leu)
c.6436G>T (p.Val2146Leu)
c.6253G>T (p.Val2085Leu)
c.5974G>T (p.Val1992Leu)
c.5017G>T (p.Val1673Leu)
c.5008G>T (p.Val1670Leu)
5g.37048547T>ACA359508029NIPBLc.6635T>A (p.Val2212Glu)
c.1-16031T>A (n.1-16031T>A)
c.5891T>A (p.Val1964Glu)
c.6437T>A (p.Val2146Glu)
c.6254T>A (p.Val2085Glu)
c.5975T>A (p.Val1992Glu)
c.5018T>A (p.Val1673Glu)
c.5009T>A (p.Val1670Glu)
 ClinVar dbSNP
5g.37048547T>CCA359508036NIPBLc.6635T>C (p.Val2212Ala)
c.1-16031T>C (n.1-16031T>C)
c.5891T>C (p.Val1964Ala)
c.6437T>C (p.Val2146Ala)
c.6254T>C (p.Val2085Ala)
c.5975T>C (p.Val1992Ala)
c.5018T>C (p.Val1673Ala)
c.5009T>C (p.Val1670Ala)
5g.37048547T>GCA359508032NIPBLc.6635T>G (p.Val2212Gly)
c.1-16031T>G (n.1-16031T>G)
c.5891T>G (p.Val1964Gly)
c.6437T>G (p.Val2146Gly)
c.6254T>G (p.Val2085Gly)
c.5975T>G (p.Val1992Gly)
c.5018T>G (p.Val1673Gly)
c.5009T>G (p.Val1670Gly)
5g.37048547T=CA1539567505NIPBLc.6635T= (p.Val2212=)
c.1-16031T= (n.1-16031T=)
c.5891T= (p.Val1964=)
c.6437T= (p.Val2146=)
c.6254T= (p.Val2085=)
c.5975T= (p.Val1992=)
c.5018T= (p.Val1673=)
c.5009T= (p.Val1670=)
5g.37048548G>ACA443907097NIPBLc.6636G>A (p.Val2212=)
c.1-16030G>A (n.1-16030G>A)
c.5892G>A (p.Val1964=)
c.6438G>A (p.Val2146=)
c.6255G>A (p.Val2085=)
c.5976G>A (p.Val1992=)
c.5019G>A (p.Val1673=)
c.5010G>A (p.Val1670=)
 dbSNP
5g.37048548G>CCA443907098NIPBLc.6636G>C (p.Val2212=)
c.1-16030G>C (n.1-16030G>C)
c.5892G>C (p.Val1964=)
c.6438G>C (p.Val2146=)
c.6255G>C (p.Val2085=)
c.5976G>C (p.Val1992=)
c.5019G>C (p.Val1673=)
c.5010G>C (p.Val1670=)
5g.37048548G=CA1539567517NIPBLc.6636G= (p.Val2212=)
c.1-16030G= (n.1-16030G=)
c.5892G= (p.Val1964=)
c.6438G= (p.Val2146=)
c.6255G= (p.Val2085=)
c.5976G= (p.Val1992=)
c.5019G= (p.Val1673=)
c.5010G= (p.Val1670=)
5g.37048548G>TCA443907099NIPBLc.6636G>T (p.Val2212=)
c.1-16030G>T (n.1-16030G>T)
c.5892G>T (p.Val1964=)
c.6438G>T (p.Val2146=)
c.6255G>T (p.Val2085=)
c.5976G>T (p.Val1992=)
c.5019G>T (p.Val1673=)
c.5010G>T (p.Val1670=)
 gnomAD v4
5g.37048549A>CCA359508037NIPBLc.6637A>C (p.Lys2213Gln)
c.1-16029A>C (n.1-16029A>C)
c.5893A>C (p.Lys1965Gln)
c.6439A>C (p.Lys2147Gln)
c.6256A>C (p.Lys2086Gln)
c.5977A>C (p.Lys1993Gln)
c.5020A>C (p.Lys1674Gln)
c.5011A>C (p.Lys1671Gln)
5g.37048549A>GCA359508038NIPBLc.6637A>G (p.Lys2213Glu)
c.1-16029A>G (n.1-16029A>G)
c.5893A>G (p.Lys1965Glu)
c.6439A>G (p.Lys2147Glu)
c.6256A>G (p.Lys2086Glu)
c.5977A>G (p.Lys1993Glu)
c.5020A>G (p.Lys1674Glu)
c.5011A>G (p.Lys1671Glu)
 gnomAD v4
5g.37048549A>TCA359508042NIPBLc.6637A>T (p.Lys2213Ter)
c.1-16029A>T (n.1-16029A>T)
c.5893A>T (p.Lys1965Ter)
c.6439A>T (p.Lys2147Ter)
c.6256A>T (p.Lys2086Ter)
c.5977A>T (p.Lys1993Ter)
c.5020A>T (p.Lys1674Ter)
c.5011A>T (p.Lys1671Ter)
5g.37048550A>CCA359508045NIPBLc.6638A>C (p.Lys2213Thr)
c.1-16028A>C (n.1-16028A>C)
c.5894A>C (p.Lys1965Thr)
c.6440A>C (p.Lys2147Thr)
c.6257A>C (p.Lys2086Thr)
c.5978A>C (p.Lys1993Thr)
c.5021A>C (p.Lys1674Thr)
c.5012A>C (p.Lys1671Thr)
5g.37048550A>GCA359508046NIPBLc.6638A>G (p.Lys2213Arg)
c.1-16028A>G (n.1-16028A>G)
c.5894A>G (p.Lys1965Arg)
c.6440A>G (p.Lys2147Arg)
c.6257A>G (p.Lys2086Arg)
c.5978A>G (p.Lys1993Arg)
c.5021A>G (p.Lys1674Arg)
c.5012A>G (p.Lys1671Arg)
 gnomAD v4
5g.37048550A>TCA359508048NIPBLc.6638A>T (p.Lys2213Met)
c.1-16028A>T (n.1-16028A>T)
c.5894A>T (p.Lys1965Met)
c.6440A>T (p.Lys2147Met)
c.6257A>T (p.Lys2086Met)
c.5978A>T (p.Lys1993Met)
c.5021A>T (p.Lys1674Met)
c.5012A>T (p.Lys1671Met)
5g.37048551G>ACA443907100NIPBLc.6639G>A (p.Lys2213=)
c.1-16027G>A (n.1-16027G>A)
c.5895G>A (p.Lys1965=)
c.6441G>A (p.Lys2147=)
c.6258G>A (p.Lys2086=)
c.5979G>A (p.Lys1993=)
c.5022G>A (p.Lys1674=)
c.5013G>A (p.Lys1671=)
 gnomAD v4
5g.37048551G>CCA359508051NIPBLc.6639G>C (p.Lys2213Asn)
c.1-16027G>C (n.1-16027G>C)
c.5895G>C (p.Lys1965Asn)
c.6441G>C (p.Lys2147Asn)
c.6258G>C (p.Lys2086Asn)
c.5979G>C (p.Lys1993Asn)
c.5022G>C (p.Lys1674Asn)
c.5013G>C (p.Lys1671Asn)
 COSMIC COSMIC
5g.37048551G>TCA359508053NIPBLc.6639G>T (p.Lys2213Asn)
c.1-16027G>T (n.1-16027G>T)
c.5895G>T (p.Lys1965Asn)
c.6441G>T (p.Lys2147Asn)
c.6258G>T (p.Lys2086Asn)
c.5979G>T (p.Lys1993Asn)
c.5022G>T (p.Lys1674Asn)
c.5013G>T (p.Lys1671Asn)
 gnomAD v4
5g.37048551_37048558delinsGAATCTATCA1539567524NIPBLc.6639_6646delinsGAATCTAT (p.Lys2213=)
c.1-16027_1-16020delinsGAATCTAT (n.1-16027_1-16020delinsGAATCTAT)
c.5895_5902delinsGAATCTAT (p.Lys1965=)
c.6441_6448delinsGAATCTAT (p.Lys2147=)
c.6258_6265delinsGAATCTAT (p.Lys2086=)
c.5979_5986delinsGAATCTAT (p.Lys1993=)
c.5022_5029delinsGAATCTAT (p.Lys1674=)
c.5013_5020delinsGAATCTAT (p.Lys1671=)
5g.37048552A>CCA359508057NIPBLc.6640A>C (p.Asn2214His)
c.1-16026A>C (n.1-16026A>C)
c.5896A>C (p.Asn1966His)
c.6442A>C (p.Asn2148His)
c.6259A>C (p.Asn2087His)
c.5980A>C (p.Asn1994His)
c.5023A>C (p.Asn1675His)
c.5014A>C (p.Asn1672His)
5g.37048552A>GCA359508061NIPBLc.6640A>G (p.Asn2214Asp)
c.1-16026A>G (n.1-16026A>G)
c.5896A>G (p.Asn1966Asp)
c.6442A>G (p.Asn2148Asp)
c.6259A>G (p.Asn2087Asp)
c.5980A>G (p.Asn1994Asp)
c.5023A>G (p.Asn1675Asp)
c.5014A>G (p.Asn1672Asp)
 gnomAD v4
5g.37048552A>TCA359508063NIPBLc.6640A>T (p.Asn2214Tyr)
c.1-16026A>T (n.1-16026A>T)
c.5896A>T (p.Asn1966Tyr)
c.6442A>T (p.Asn2148Tyr)
c.6259A>T (p.Asn2087Tyr)
c.5980A>T (p.Asn1994Tyr)
c.5023A>T (p.Asn1675Tyr)
c.5014A>T (p.Asn1672Tyr)
5g.37048553_37048559delCA267556NIPBLc.6641_6647del (p.Asn2214IlefsTer14)
c.1-16025_1-16019del (n.1-16025_1-16019del)
c.5897_5903del (p.Asn1966IlefsTer14)
c.6443_6449del (p.Asn2148IlefsTer14)
c.6260_6266del (p.Asn2087IlefsTer14)
c.5981_5987del (p.Asn1994IlefsTer14)
c.5024_5030del (p.Asn1675IlefsTer14)
c.5015_5021del (p.Asn1672IlefsTer14)
 ClinVar dbSNP
5g.37048553A=CA1539567539NIPBLc.6641A= (p.Asn2214=)
c.1-16025A= (n.1-16025A=)
c.5897A= (p.Asn1966=)
c.6443A= (p.Asn2148=)
c.6260A= (p.Asn2087=)
c.5981A= (p.Asn1994=)
c.5024A= (p.Asn1675=)
c.5015A= (p.Asn1672=)
5g.37048553A>CCA117048686NIPBLc.6641A>C (p.Asn2214Thr)
c.1-16025A>C (n.1-16025A>C)
c.5897A>C (p.Asn1966Thr)
c.6443A>C (p.Asn2148Thr)
c.6260A>C (p.Asn2087Thr)
c.5981A>C (p.Asn1994Thr)
c.5024A>C (p.Asn1675Thr)
c.5015A>C (p.Asn1672Thr)
 dbSNP
5g.37048553A>GCA359508068NIPBLc.6641A>G (p.Asn2214Ser)
c.1-16025A>G (n.1-16025A>G)
c.5897A>G (p.Asn1966Ser)
c.6443A>G (p.Asn2148Ser)
c.6260A>G (p.Asn2087Ser)
c.5981A>G (p.Asn1994Ser)
c.5024A>G (p.Asn1675Ser)
c.5015A>G (p.Asn1672Ser)
5g.37048553A>TCA359508071NIPBLc.6641A>T (p.Asn2214Ile)
c.1-16025A>T (n.1-16025A>T)
c.5897A>T (p.Asn1966Ile)
c.6443A>T (p.Asn2148Ile)
c.6260A>T (p.Asn2087Ile)
c.5981A>T (p.Asn1994Ile)
c.5024A>T (p.Asn1675Ile)
c.5015A>T (p.Asn1672Ile)
5g.37048554T>ACA359508076NIPBLc.6642T>A (p.Asn2214Lys)
c.1-16024T>A (n.1-16024T>A)
c.5898T>A (p.Asn1966Lys)
c.6444T>A (p.Asn2148Lys)
c.6261T>A (p.Asn2087Lys)
c.5982T>A (p.Asn1994Lys)
c.5025T>A (p.Asn1675Lys)
c.5016T>A (p.Asn1672Lys)
5g.37048554T>CCA443907101NIPBLc.6642T>C (p.Asn2214=)
c.1-16024T>C (n.1-16024T>C)
c.5898T>C (p.Asn1966=)
c.6444T>C (p.Asn2148=)
c.6261T>C (p.Asn2087=)
c.5982T>C (p.Asn1994=)
c.5025T>C (p.Asn1675=)
c.5016T>C (p.Asn1672=)
 dbSNP gnomAD v4
5g.37048554T>GCA359508074NIPBLc.6642T>G (p.Asn2214Lys)
c.1-16024T>G (n.1-16024T>G)
c.5898T>G (p.Asn1966Lys)
c.6444T>G (p.Asn2148Lys)
c.6261T>G (p.Asn2087Lys)
c.5982T>G (p.Asn1994Lys)
c.5025T>G (p.Asn1675Lys)
c.5016T>G (p.Asn1672Lys)
5g.37048554T=CA1539567546NIPBLc.6642T= (p.Asn2214=)
c.1-16024T= (n.1-16024T=)
c.5898T= (p.Asn1966=)
c.6444T= (p.Asn2148=)
c.6261T= (p.Asn2087=)
c.5982T= (p.Asn1994=)
c.5025T= (p.Asn1675=)
c.5016T= (p.Asn1672=)
5g.37048555_37048556delCA2695204421NIPBLc.6643_6644del (p.Leu2215IlefsTer2)
c.1-16023_1-16022del (n.1-16023_1-16022del)
c.5899_5900del (p.Leu1967IlefsTer2)
c.6445_6446del (p.Leu2149IlefsTer2)
c.6262_6263del (p.Leu2088IlefsTer2)
c.5983_5984del (p.Leu1995IlefsTer2)
c.5026_5027del (p.Leu1676IlefsTer2)
c.5017_5018del (p.Leu1673IlefsTer2)
5g.37048555C>ACA359508078NIPBLc.6643C>A (p.Leu2215Ile)
c.1-16023C>A (n.1-16023C>A)
c.5899C>A (p.Leu1967Ile)
c.6445C>A (p.Leu2149Ile)
c.6262C>A (p.Leu2088Ile)
c.5983C>A (p.Leu1995Ile)
c.5026C>A (p.Leu1676Ile)
c.5017C>A (p.Leu1673Ile)
 gnomAD v4
5g.37048555C>GCA359508080NIPBLc.6643C>G (p.Leu2215Val)
c.1-16023C>G (n.1-16023C>G)
c.5899C>G (p.Leu1967Val)
c.6445C>G (p.Leu2149Val)
c.6262C>G (p.Leu2088Val)
c.5983C>G (p.Leu1995Val)
c.5026C>G (p.Leu1676Val)
c.5017C>G (p.Leu1673Val)
5g.37048555C>TCA443907102NIPBLc.6643C>T (p.Leu2215=)
c.1-16023C>T (n.1-16023C>T)
c.5899C>T (p.Leu1967=)
c.6445C>T (p.Leu2149=)
c.6262C>T (p.Leu2088=)
c.5983C>T (p.Leu1995=)
c.5026C>T (p.Leu1676=)
c.5017C>T (p.Leu1673=)
5g.37048555_37048557delinsCTACA1539567550NIPBLc.6643_6645delinsCTA (p.Leu2215=)
c.1-16023_1-16021delinsCTA (n.1-16023_1-16021delinsCTA)
c.5899_5901delinsCTA (p.Leu1967=)
c.6445_6447delinsCTA (p.Leu2149=)
c.6262_6264delinsCTA (p.Leu2088=)
c.5983_5985delinsCTA (p.Leu1995=)
c.5026_5028delinsCTA (p.Leu1676=)
c.5017_5019delinsCTA (p.Leu1673=)
5g.37048556T>ACA359508083NIPBLc.6644T>A (p.Leu2215Gln)
c.1-16022T>A (n.1-16022T>A)
c.5900T>A (p.Leu1967Gln)
c.6446T>A (p.Leu2149Gln)
c.6263T>A (p.Leu2088Gln)
c.5984T>A (p.Leu1995Gln)
c.5027T>A (p.Leu1676Gln)
c.5018T>A (p.Leu1673Gln)
 gnomAD v4
5g.37048556T>CCA359508085NIPBLc.6644T>C (p.Leu2215Pro)
c.1-16022T>C (n.1-16022T>C)
c.5900T>C (p.Leu1967Pro)
c.6446T>C (p.Leu2149Pro)
c.6263T>C (p.Leu2088Pro)
c.5984T>C (p.Leu1995Pro)
c.5027T>C (p.Leu1676Pro)
c.5018T>C (p.Leu1673Pro)
 gnomAD v4
5g.37048556T>GCA359508088NIPBLc.6644T>G (p.Leu2215Arg)
c.1-16022T>G (n.1-16022T>G)
c.5900T>G (p.Leu1967Arg)
c.6446T>G (p.Leu2149Arg)
c.6263T>G (p.Leu2088Arg)
c.5984T>G (p.Leu1995Arg)
c.5027T>G (p.Leu1676Arg)
c.5018T>G (p.Leu1673Arg)
5g.37048560_37048561delCA272254NIPBLc.6648_6649del (p.Tyr2216Ter)
c.1-16018_1-16017del (n.1-16018_1-16017del)
c.5904_5905del (p.Tyr1968Ter)
c.6450_6451del (p.Tyr2150Ter)
c.6267_6268del (p.Tyr2089Ter)
c.5988_5989del (p.Tyr1996Ter)
c.5031_5032del (p.Tyr1677Ter)
c.5022_5023del (p.Tyr1674Ter)
 ClinVar dbSNP
5g.37048557A=CA1539567556NIPBLc.6645A= (p.Leu2215=)
c.1-16021A= (n.1-16021A=)
c.5901A= (p.Leu1967=)
c.6447A= (p.Leu2149=)
c.6264A= (p.Leu2088=)
c.5985A= (p.Leu1995=)
c.5028A= (p.Leu1676=)
c.5019A= (p.Leu1673=)
5g.37048557A>CCA443907103NIPBLc.6645A>C (p.Leu2215=)
c.1-16021A>C (n.1-16021A>C)
c.5901A>C (p.Leu1967=)
c.6447A>C (p.Leu2149=)
c.6264A>C (p.Leu2088=)
c.5985A>C (p.Leu1995=)
c.5028A>C (p.Leu1676=)
c.5019A>C (p.Leu1673=)
 dbSNP gnomAD v3 gnomAD v4
5g.37048557A>GCA3237040NIPBLc.6645A>G (p.Leu2215=)
c.1-16021A>G (n.1-16021A>G)
c.5901A>G (p.Leu1967=)
c.6447A>G (p.Leu2149=)
c.6264A>G (p.Leu2088=)
c.5985A>G (p.Leu1995=)
c.5028A>G (p.Leu1676=)
c.5019A>G (p.Leu1673=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37048557A>TCA443907104NIPBLc.6645A>T (p.Leu2215=)
c.1-16021A>T (n.1-16021A>T)
c.5901A>T (p.Leu1967=)
c.6447A>T (p.Leu2149=)
c.6264A>T (p.Leu2088=)
c.5985A>T (p.Leu1995=)
c.5028A>T (p.Leu1676=)
c.5019A>T (p.Leu1673=)
5g.37048558T>ACA359508092NIPBLc.6646T>A (p.Tyr2216Asn)
c.1-16020T>A (n.1-16020T>A)
c.5902T>A (p.Tyr1968Asn)
c.6448T>A (p.Tyr2150Asn)
c.6265T>A (p.Tyr2089Asn)
c.5986T>A (p.Tyr1996Asn)
c.5029T>A (p.Tyr1677Asn)
c.5020T>A (p.Tyr1674Asn)
5g.37048558T>CCA272251NIPBLc.6646T>C (p.Tyr2216His)
c.1-16020T>C (n.1-16020T>C)
c.5902T>C (p.Tyr1968His)
c.6448T>C (p.Tyr2150His)
c.6265T>C (p.Tyr2089His)
c.5986T>C (p.Tyr1996His)
c.5029T>C (p.Tyr1677His)
c.5020T>C (p.Tyr1674His)
 ClinVar dbSNP gnomAD v4
5g.37048558T>GCA359508096NIPBLc.6646T>G (p.Tyr2216Asp)
c.1-16020T>G (n.1-16020T>G)
c.5902T>G (p.Tyr1968Asp)
c.6448T>G (p.Tyr2150Asp)
c.6265T>G (p.Tyr2089Asp)
c.5986T>G (p.Tyr1996Asp)
c.5029T>G (p.Tyr1677Asp)
c.5020T>G (p.Tyr1674Asp)
5g.37048558T=CA1539567578NIPBLc.6646T= (p.Tyr2216=)
c.1-16020T= (n.1-16020T=)
c.5902T= (p.Tyr1968=)
c.6448T= (p.Tyr2150=)
c.6265T= (p.Tyr2089=)
c.5986T= (p.Tyr1996=)
c.5029T= (p.Tyr1677=)
c.5020T= (p.Tyr1674=)
5g.37048558_37048561delinsTATACA1539567565NIPBLc.6646_6649delinsTATA (p.Tyr2216=)
c.1-16020_1-16017delinsTATA (n.1-16020_1-16017delinsTATA)
c.5902_5905delinsTATA (p.Tyr1968=)
c.6448_6451delinsTATA (p.Tyr2150=)
c.6265_6268delinsTATA (p.Tyr2089=)
c.5986_5989delinsTATA (p.Tyr1996=)
c.5029_5032delinsTATA (p.Tyr1677=)
c.5020_5023delinsTATA (p.Tyr1674=)
5g.37048559A>CCA359508102NIPBLc.6647A>C (p.Tyr2216Ser)
c.1-16019A>C (n.1-16019A>C)
c.5903A>C (p.Tyr1968Ser)
c.6449A>C (p.Tyr2150Ser)
c.6266A>C (p.Tyr2089Ser)
c.5987A>C (p.Tyr1996Ser)
c.5030A>C (p.Tyr1677Ser)
c.5021A>C (p.Tyr1674Ser)
5g.37048559A>GCA359508099NIPBLc.6647A>G (p.Tyr2216Cys)
c.1-16019A>G (n.1-16019A>G)
c.5903A>G (p.Tyr1968Cys)
c.6449A>G (p.Tyr2150Cys)
c.6266A>G (p.Tyr2089Cys)
c.5987A>G (p.Tyr1996Cys)
c.5030A>G (p.Tyr1677Cys)
c.5021A>G (p.Tyr1674Cys)
5g.37048559A>TCA359508100NIPBLc.6647A>T (p.Tyr2216Phe)
c.1-16019A>T (n.1-16019A>T)
c.5903A>T (p.Tyr1968Phe)
c.6449A>T (p.Tyr2150Phe)
c.6266A>T (p.Tyr2089Phe)
c.5987A>T (p.Tyr1996Phe)
c.5030A>T (p.Tyr1677Phe)
c.5021A>T (p.Tyr1674Phe)
5g.37048565_37048567delCA272255NIPBLc.6653_6655del (p.Asn2218del)
c.1-16013_1-16011del (n.1-16013_1-16011del)
c.5909_5911del (p.Asn1970del)
c.6455_6457del (p.Asn2152del)
c.6272_6274del (p.Asn2091del)
c.5993_5995del (p.Asn1998del)
c.5036_5038del (p.Asn1679del)
c.5027_5029del (p.Asn1676del)
 ClinVar dbSNP
5g.37048560T>ACA359508104NIPBLc.6648T>A (p.Tyr2216Ter)
c.1-16018T>A (n.1-16018T>A)
c.5904T>A (p.Tyr1968Ter)
c.6450T>A (p.Tyr2150Ter)
c.6267T>A (p.Tyr2089Ter)
c.5988T>A (p.Tyr1996Ter)
c.5031T>A (p.Tyr1677Ter)
c.5022T>A (p.Tyr1674Ter)
5g.37048560T>CCA443907105NIPBLc.6648T>C (p.Tyr2216=)
c.1-16018T>C (n.1-16018T>C)
c.5904T>C (p.Tyr1968=)
c.6450T>C (p.Tyr2150=)
c.6267T>C (p.Tyr2089=)
c.5988T>C (p.Tyr1996=)
c.5031T>C (p.Tyr1677=)
c.5022T>C (p.Tyr1674=)
5g.37048560T>GCA359508105NIPBLc.6648T>G (p.Tyr2216Ter)
c.1-16018T>G (n.1-16018T>G)
c.5904T>G (p.Tyr1968Ter)
c.6450T>G (p.Tyr2150Ter)
c.6267T>G (p.Tyr2089Ter)
c.5988T>G (p.Tyr1996Ter)
c.5031T>G (p.Tyr1677Ter)
c.5022T>G (p.Tyr1674Ter)
5g.37048561A=CA1539567591NIPBLc.6649A= (p.Asn2217=)
c.1-16017A= (n.1-16017A=)
c.5905A= (p.Asn1969=)
c.6451A= (p.Asn2151=)
c.6268A= (p.Asn2090=)
c.5989A= (p.Asn1997=)
c.5032A= (p.Asn1678=)
c.5023A= (p.Asn1675=)
5g.37048561A>CCA359508108NIPBLc.6649A>C (p.Asn2217His)
c.1-16017A>C (n.1-16017A>C)
c.5905A>C (p.Asn1969His)
c.6451A>C (p.Asn2151His)
c.6268A>C (p.Asn2090His)
c.5989A>C (p.Asn1997His)
c.5032A>C (p.Asn1678His)
c.5023A>C (p.Asn1675His)
 dbSNP gnomAD v2 gnomAD v4
5g.37048561A>GCA359508110NIPBLc.6649A>G (p.Asn2217Asp)
c.1-16017A>G (n.1-16017A>G)
c.5905A>G (p.Asn1969Asp)
c.6451A>G (p.Asn2151Asp)
c.6268A>G (p.Asn2090Asp)
c.5989A>G (p.Asn1997Asp)
c.5032A>G (p.Asn1678Asp)
c.5023A>G (p.Asn1675Asp)
5g.37048561A>TCA359508113NIPBLc.6649A>T (p.Asn2217Tyr)
c.1-16017A>T (n.1-16017A>T)
c.5905A>T (p.Asn1969Tyr)
c.6451A>T (p.Asn2151Tyr)
c.6268A>T (p.Asn2090Tyr)
c.5989A>T (p.Asn1997Tyr)
c.5032A>T (p.Asn1678Tyr)
c.5023A>T (p.Asn1675Tyr)
5g.37048562A>CCA359508114NIPBLc.6650A>C (p.Asn2217Thr)
c.1-16016A>C (n.1-16016A>C)
c.5906A>C (p.Asn1969Thr)
c.6452A>C (p.Asn2151Thr)
c.6269A>C (p.Asn2090Thr)
c.5990A>C (p.Asn1997Thr)
c.5033A>C (p.Asn1678Thr)
c.5024A>C (p.Asn1675Thr)
5g.37048562A>GCA359508117NIPBLc.6650A>G (p.Asn2217Ser)
c.1-16016A>G (n.1-16016A>G)
c.5906A>G (p.Asn1969Ser)
c.6452A>G (p.Asn2151Ser)
c.6269A>G (p.Asn2090Ser)
c.5990A>G (p.Asn1997Ser)
c.5033A>G (p.Asn1678Ser)
c.5024A>G (p.Asn1675Ser)
5g.37048562A>TCA359508120NIPBLc.6650A>T (p.Asn2217Ile)
c.1-16016A>T (n.1-16016A>T)
c.5906A>T (p.Asn1969Ile)
c.6452A>T (p.Asn2151Ile)
c.6269A>T (p.Asn2090Ile)
c.5990A>T (p.Asn1997Ile)
c.5033A>T (p.Asn1678Ile)
c.5024A>T (p.Asn1675Ile)
5g.37048563T>ACA359508123NIPBLc.6651T>A (p.Asn2217Lys)
c.1-16015T>A (n.1-16015T>A)
c.5907T>A (p.Asn1969Lys)
c.6453T>A (p.Asn2151Lys)
c.6270T>A (p.Asn2090Lys)
c.5991T>A (p.Asn1997Lys)
c.5034T>A (p.Asn1678Lys)
c.5025T>A (p.Asn1675Lys)
5g.37048563T>CCA443907106NIPBLc.6651T>C (p.Asn2217=)
c.1-16015T>C (n.1-16015T>C)
c.5907T>C (p.Asn1969=)
c.6453T>C (p.Asn2151=)
c.6270T>C (p.Asn2090=)
c.5991T>C (p.Asn1997=)
c.5034T>C (p.Asn1678=)
c.5025T>C (p.Asn1675=)
5g.37048563T>GCA359508125NIPBLc.6651T>G (p.Asn2217Lys)
c.1-16015T>G (n.1-16015T>G)
c.5907T>G (p.Asn1969Lys)
c.6453T>G (p.Asn2151Lys)
c.6270T>G (p.Asn2090Lys)
c.5991T>G (p.Asn1997Lys)
c.5034T>G (p.Asn1678Lys)
c.5025T>G (p.Asn1675Lys)
5g.37048564A=CA1539567597NIPBLc.6652A= (p.Asn2218=)
c.1-16014A= (n.1-16014A=)
c.5908A= (p.Asn1970=)
c.6454A= (p.Asn2152=)
c.6271A= (p.Asn2091=)
c.5992A= (p.Asn1998=)
c.5035A= (p.Asn1679=)
c.5026A= (p.Asn1676=)
5g.37048564A>CCA359508136NIPBLc.6652A>C (p.Asn2218His)
c.1-16014A>C (n.1-16014A>C)
c.5908A>C (p.Asn1970His)
c.6454A>C (p.Asn2152His)
c.6271A>C (p.Asn2091His)
c.5992A>C (p.Asn1998His)
c.5035A>C (p.Asn1679His)
c.5026A>C (p.Asn1676His)
5g.37048564A>GCA3237041NIPBLc.6652A>G (p.Asn2218Asp)
c.1-16014A>G (n.1-16014A>G)
c.5908A>G (p.Asn1970Asp)
c.6454A>G (p.Asn2152Asp)
c.6271A>G (p.Asn2091Asp)
c.5992A>G (p.Asn1998Asp)
c.5035A>G (p.Asn1679Asp)
c.5026A>G (p.Asn1676Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37048564A>TCA359508134NIPBLc.6652A>T (p.Asn2218Tyr)
c.1-16014A>T (n.1-16014A>T)
c.5908A>T (p.Asn1970Tyr)
c.6454A>T (p.Asn2152Tyr)
c.6271A>T (p.Asn2091Tyr)
c.5992A>T (p.Asn1998Tyr)
c.5035A>T (p.Asn1679Tyr)
c.5026A>T (p.Asn1676Tyr)
5g.37048565A>CCA359508142NIPBLc.6653A>C (p.Asn2218Thr)
c.1-16013A>C (n.1-16013A>C)
c.5909A>C (p.Asn1970Thr)
c.6455A>C (p.Asn2152Thr)
c.6272A>C (p.Asn2091Thr)
c.5993A>C (p.Asn1998Thr)
c.5036A>C (p.Asn1679Thr)
c.5027A>C (p.Asn1676Thr)
5g.37048565A>GCA359508144NIPBLc.6653A>G (p.Asn2218Ser)
c.1-16013A>G (n.1-16013A>G)
c.5909A>G (p.Asn1970Ser)
c.6455A>G (p.Asn2152Ser)
c.6272A>G (p.Asn2091Ser)
c.5993A>G (p.Asn1998Ser)
c.5036A>G (p.Asn1679Ser)
c.5027A>G (p.Asn1676Ser)
 gnomAD v4
5g.37048565A>TCA359508147NIPBLc.6653A>T (p.Asn2218Ile)
c.1-16013A>T (n.1-16013A>T)
c.5909A>T (p.Asn1970Ile)
c.6455A>T (p.Asn2152Ile)
c.6272A>T (p.Asn2091Ile)
c.5993A>T (p.Asn1998Ile)
c.5036A>T (p.Asn1679Ile)
c.5027A>T (p.Asn1676Ile)
5g.37048566T>ACA359508153NIPBLc.6654T>A (p.Asn2218Lys)
c.1-16012T>A (n.1-16012T>A)
c.5910T>A (p.Asn1970Lys)
c.6456T>A (p.Asn2152Lys)
c.6273T>A (p.Asn2091Lys)
c.5994T>A (p.Asn1998Lys)
c.5037T>A (p.Asn1679Lys)
c.5028T>A (p.Asn1676Lys)
5g.37048566T>CCA443907109NIPBLc.6654T>C (p.Asn2218=)
c.1-16012T>C (n.1-16012T>C)
c.5910T>C (p.Asn1970=)
c.6456T>C (p.Asn2152=)
c.6273T>C (p.Asn2091=)
c.5994T>C (p.Asn1998=)
c.5037T>C (p.Asn1679=)
c.5028T>C (p.Asn1676=)
5g.37048566T>GCA359508155NIPBLc.6654T>G (p.Asn2218Lys)
c.1-16012T>G (n.1-16012T>G)
c.5910T>G (p.Asn1970Lys)
c.6456T>G (p.Asn2152Lys)
c.6273T>G (p.Asn2091Lys)
c.5994T>G (p.Asn1998Lys)
c.5037T>G (p.Asn1679Lys)
c.5028T>G (p.Asn1676Lys)
5g.37048567A>CCA359508158NIPBLc.6655A>C (p.Ile2219Leu)
c.1-16011A>C (n.1-16011A>C)
c.5911A>C (p.Ile1971Leu)
c.6457A>C (p.Ile2153Leu)
c.6274A>C (p.Ile2092Leu)
c.5995A>C (p.Ile1999Leu)
c.5038A>C (p.Ile1680Leu)
c.5029A>C (p.Ile1677Leu)
5g.37048567A>GCA359508161NIPBLc.6655A>G (p.Ile2219Val)
c.1-16011A>G (n.1-16011A>G)
c.5911A>G (p.Ile1971Val)
c.6457A>G (p.Ile2153Val)
c.6274A>G (p.Ile2092Val)
c.5995A>G (p.Ile1999Val)
c.5038A>G (p.Ile1680Val)
c.5029A>G (p.Ile1677Val)
 gnomAD v4
5g.37048567A>TCA359508162NIPBLc.6655A>T (p.Ile2219Phe)
c.1-16011A>T (n.1-16011A>T)
c.5911A>T (p.Ile1971Phe)
c.6457A>T (p.Ile2153Phe)
c.6274A>T (p.Ile2092Phe)
c.5995A>T (p.Ile1999Phe)
c.5038A>T (p.Ile1680Phe)
c.5029A>T (p.Ile1677Phe)
5g.37048568T>ACA359508167NIPBLc.6656T>A (p.Ile2219Asn)
c.1-16010T>A (n.1-16010T>A)
c.5912T>A (p.Ile1971Asn)
c.6458T>A (p.Ile2153Asn)
c.6275T>A (p.Ile2092Asn)
c.5996T>A (p.Ile1999Asn)
c.5039T>A (p.Ile1680Asn)
c.5030T>A (p.Ile1677Asn)
5g.37048568T>CCA359508173NIPBLc.6656T>C (p.Ile2219Thr)
c.1-16010T>C (n.1-16010T>C)
c.5912T>C (p.Ile1971Thr)
c.6458T>C (p.Ile2153Thr)
c.6275T>C (p.Ile2092Thr)
c.5996T>C (p.Ile1999Thr)
c.5039T>C (p.Ile1680Thr)
c.5030T>C (p.Ile1677Thr)
 gnomAD v4
5g.37048568T>GCA359508169NIPBLc.6656T>G (p.Ile2219Ser)
c.1-16010T>G (n.1-16010T>G)
c.5912T>G (p.Ile1971Ser)
c.6458T>G (p.Ile2153Ser)
c.6275T>G (p.Ile2092Ser)
c.5996T>G (p.Ile1999Ser)
c.5039T>G (p.Ile1680Ser)
c.5030T>G (p.Ile1677Ser)
5g.37048571dupCA443907111NIPBLc.6659dup (p.Leu2220PhefsTer3)
c.1-16007dup (n.1-16007dup)
c.5915dup (p.Leu1972PhefsTer3)
c.6461dup (p.Leu2154PhefsTer3)
c.6278dup (p.Leu2093PhefsTer3)
c.5999dup (p.Leu2000PhefsTer3)
c.5042dup (p.Leu1681PhefsTer3)
c.5033dup (p.Leu1678PhefsTer3)
 COSMIC COSMIC
5g.37048571delCA645546378NIPBLc.6659del (p.Leu2220TyrfsTer10)
c.1-16007del (n.1-16007del)
c.5915del (p.Leu1972TyrfsTer10)
c.6461del (p.Leu2154TyrfsTer10)
c.6278del (p.Leu2093TyrfsTer10)
c.5999del (p.Leu2000TyrfsTer10)
c.5042del (p.Leu1681TyrfsTer10)
c.5033del (p.Leu1678TyrfsTer10)
 COSMIC COSMIC
5g.37048569T>ACA443907112NIPBLc.6657T>A (p.Ile2219=)
c.1-16009T>A (n.1-16009T>A)
c.5913T>A (p.Ile1971=)
c.6459T>A (p.Ile2153=)
c.6276T>A (p.Ile2092=)
c.5997T>A (p.Ile1999=)
c.5040T>A (p.Ile1680=)
c.5031T>A (p.Ile1677=)
5g.37048569T>CCA3237042NIPBLc.6657T>C (p.Ile2219=)
c.1-16009T>C (n.1-16009T>C)
c.5913T>C (p.Ile1971=)
c.6459T>C (p.Ile2153=)
c.6276T>C (p.Ile2092=)
c.5997T>C (p.Ile1999=)
c.5040T>C (p.Ile1680=)
c.5031T>C (p.Ile1677=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37048569T>GCA359508176NIPBLc.6657T>G (p.Ile2219Met)
c.1-16009T>G (n.1-16009T>G)
c.5913T>G (p.Ile1971Met)
c.6459T>G (p.Ile2153Met)
c.6276T>G (p.Ile2092Met)
c.5997T>G (p.Ile1999Met)
c.5040T>G (p.Ile1680Met)
c.5031T>G (p.Ile1677Met)
5g.37048569T=CA1539567602NIPBLc.6657T= (p.Ile2219=)
c.1-16009T= (n.1-16009T=)
c.5913T= (p.Ile1971=)
c.6459T= (p.Ile2153=)
c.6276T= (p.Ile2092=)
c.5997T= (p.Ile1999=)
c.5040T= (p.Ile1680=)
c.5031T= (p.Ile1677=)
5g.37048570T>ACA359508178NIPBLc.6658T>A (p.Leu2220Ile)
c.1-16008T>A (n.1-16008T>A)
c.5914T>A (p.Leu1972Ile)
c.6460T>A (p.Leu2154Ile)
c.6277T>A (p.Leu2093Ile)
c.5998T>A (p.Leu2000Ile)
c.5041T>A (p.Leu1681Ile)
c.5032T>A (p.Leu1678Ile)
5g.37048570T>CCA443907113NIPBLc.6658T>C (p.Leu2220=)
c.1-16008T>C (n.1-16008T>C)
c.5914T>C (p.Leu1972=)
c.6460T>C (p.Leu2154=)
c.6277T>C (p.Leu2093=)
c.5998T>C (p.Leu2000=)
c.5041T>C (p.Leu1681=)
c.5032T>C (p.Leu1678=)
5g.37048570T>GCA359508180NIPBLc.6658T>G (p.Leu2220Val)
c.1-16008T>G (n.1-16008T>G)
c.5914T>G (p.Leu1972Val)
c.6460T>G (p.Leu2154Val)
c.6277T>G (p.Leu2093Val)
c.5998T>G (p.Leu2000Val)
c.5041T>G (p.Leu1681Val)
c.5032T>G (p.Leu1678Val)
 ClinVar dbSNP

Number of alleles fetched