Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37052427T>ACA359511325NIPBLc.7124T>A (p.Leu2375Gln)
n.1006T>A
c.1-12151T>A (n.1-12151T>A)
c.6380T>A (p.Leu2127Gln)
c.6926T>A (p.Leu2309Gln)
c.6743T>A (p.Leu2248Gln)
c.6464T>A (p.Leu2155Gln)
c.5507T>A (p.Leu1836Gln)
c.5498T>A (p.Leu1833Gln)
5g.37052427T>CCA359511326NIPBLc.7124T>C (p.Leu2375Pro)
n.1006T>C
c.1-12151T>C (n.1-12151T>C)
c.6380T>C (p.Leu2127Pro)
c.6926T>C (p.Leu2309Pro)
c.6743T>C (p.Leu2248Pro)
c.6464T>C (p.Leu2155Pro)
c.5507T>C (p.Leu1836Pro)
c.5498T>C (p.Leu1833Pro)
5g.37052427T>GCA3237144NIPBLc.7124T>G (p.Leu2375Arg)
n.1006T>G
c.1-12151T>G (n.1-12151T>G)
c.6380T>G (p.Leu2127Arg)
c.6926T>G (p.Leu2309Arg)
c.6743T>G (p.Leu2248Arg)
c.6464T>G (p.Leu2155Arg)
c.5507T>G (p.Leu1836Arg)
c.5498T>G (p.Leu1833Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37052427T=CA1539572199NIPBLc.7124T= (p.Leu2375=)
n.1006T=
c.1-12151T= (n.1-12151T=)
c.6380T= (p.Leu2127=)
c.6926T= (p.Leu2309=)
c.6743T= (p.Leu2248=)
c.6464T= (p.Leu2155=)
c.5507T= (p.Leu1836=)
c.5498T= (p.Leu1833=)
5g.37052428A>CCA443911557NIPBLc.7125A>C (p.Leu2375=)
n.1007A>C
c.1-12150A>C (n.1-12150A>C)
c.6381A>C (p.Leu2127=)
c.6927A>C (p.Leu2309=)
c.6744A>C (p.Leu2248=)
c.6465A>C (p.Leu2155=)
c.5508A>C (p.Leu1836=)
c.5499A>C (p.Leu1833=)
5g.37052428A>GCA443911559NIPBLc.7125A>G (p.Leu2375=)
n.1007A>G
c.1-12150A>G (n.1-12150A>G)
c.6381A>G (p.Leu2127=)
c.6927A>G (p.Leu2309=)
c.6744A>G (p.Leu2248=)
c.6465A>G (p.Leu2155=)
c.5508A>G (p.Leu1836=)
c.5499A>G (p.Leu1833=)
5g.37052428A>TCA443911555NIPBLc.7125A>T (p.Leu2375=)
n.1007A>T
c.1-12150A>T (n.1-12150A>T)
c.6381A>T (p.Leu2127=)
c.6927A>T (p.Leu2309=)
c.6744A>T (p.Leu2248=)
c.6465A>T (p.Leu2155=)
c.5508A>T (p.Leu1836=)
c.5499A>T (p.Leu1833=)
5g.37052429A>CCA359511327NIPBLc.7126A>C (p.Lys2376Gln)
n.1008A>C
c.1-12149A>C (n.1-12149A>C)
c.6382A>C (p.Lys2128Gln)
c.6928A>C (p.Lys2310Gln)
c.6745A>C (p.Lys2249Gln)
c.6466A>C (p.Lys2156Gln)
c.5509A>C (p.Lys1837Gln)
c.5500A>C (p.Lys1834Gln)
5g.37052429A>GCA359511328NIPBLc.7126A>G (p.Lys2376Glu)
n.1008A>G
c.1-12149A>G (n.1-12149A>G)
c.6382A>G (p.Lys2128Glu)
c.6928A>G (p.Lys2310Glu)
c.6745A>G (p.Lys2249Glu)
c.6466A>G (p.Lys2156Glu)
c.5509A>G (p.Lys1837Glu)
c.5500A>G (p.Lys1834Glu)
5g.37052429A>TCA359511329NIPBLc.7126A>T (p.Lys2376Ter)
n.1008A>T
c.1-12149A>T (n.1-12149A>T)
c.6382A>T (p.Lys2128Ter)
c.6928A>T (p.Lys2310Ter)
c.6745A>T (p.Lys2249Ter)
c.6466A>T (p.Lys2156Ter)
c.5509A>T (p.Lys1837Ter)
c.5500A>T (p.Lys1834Ter)
5g.37052430A>CCA359511331NIPBLc.7127A>C (p.Lys2376Thr)
n.1009A>C
c.1-12148A>C (n.1-12148A>C)
c.6383A>C (p.Lys2128Thr)
c.6929A>C (p.Lys2310Thr)
c.6746A>C (p.Lys2249Thr)
c.6467A>C (p.Lys2156Thr)
c.5510A>C (p.Lys1837Thr)
c.5501A>C (p.Lys1834Thr)
5g.37052430A>GCA359511334NIPBLc.7127A>G (p.Lys2376Arg)
n.1009A>G
c.1-12148A>G (n.1-12148A>G)
c.6383A>G (p.Lys2128Arg)
c.6929A>G (p.Lys2310Arg)
c.6746A>G (p.Lys2249Arg)
c.6467A>G (p.Lys2156Arg)
c.5510A>G (p.Lys1837Arg)
c.5501A>G (p.Lys1834Arg)
5g.37052430A>TCA359511337NIPBLc.7127A>T (p.Lys2376Ile)
n.1009A>T
c.1-12148A>T (n.1-12148A>T)
c.6383A>T (p.Lys2128Ile)
c.6929A>T (p.Lys2310Ile)
c.6746A>T (p.Lys2249Ile)
c.6467A>T (p.Lys2156Ile)
c.5510A>T (p.Lys1837Ile)
c.5501A>T (p.Lys1834Ile)
5g.37052431A>CCA359511341NIPBLc.7128A>C (p.Lys2376Asn)
n.1010A>C
c.1-12147A>C (n.1-12147A>C)
c.6384A>C (p.Lys2128Asn)
c.6930A>C (p.Lys2310Asn)
c.6747A>C (p.Lys2249Asn)
c.6468A>C (p.Lys2156Asn)
c.5511A>C (p.Lys1837Asn)
c.5502A>C (p.Lys1834Asn)
 gnomAD v4
5g.37052431A>GCA443911572NIPBLc.7128A>G (p.Lys2376=)
n.1010A>G
c.1-12147A>G (n.1-12147A>G)
c.6384A>G (p.Lys2128=)
c.6930A>G (p.Lys2310=)
c.6747A>G (p.Lys2249=)
c.6468A>G (p.Lys2156=)
c.5511A>G (p.Lys1837=)
c.5502A>G (p.Lys1834=)
5g.37052431A>TCA359511343NIPBLc.7128A>T (p.Lys2376Asn)
n.1010A>T
c.1-12147A>T (n.1-12147A>T)
c.6384A>T (p.Lys2128Asn)
c.6930A>T (p.Lys2310Asn)
c.6747A>T (p.Lys2249Asn)
c.6468A>T (p.Lys2156Asn)
c.5511A>T (p.Lys1837Asn)
c.5502A>T (p.Lys1834Asn)
5g.37052432G>ACA359511345NIPBLc.7129G>A (p.Asp2377Asn)
n.1011G>A
c.1-12146G>A (n.1-12146G>A)
c.6385G>A (p.Asp2129Asn)
c.6931G>A (p.Asp2311Asn)
c.6748G>A (p.Asp2250Asn)
c.6469G>A (p.Asp2157Asn)
c.5512G>A (p.Asp1838Asn)
c.5503G>A (p.Asp1835Asn)
5g.37052432G>CCA3237145NIPBLc.7129G>C (p.Asp2377His)
n.1011G>C
c.1-12146G>C (n.1-12146G>C)
c.6385G>C (p.Asp2129His)
c.6931G>C (p.Asp2311His)
c.6748G>C (p.Asp2250His)
c.6469G>C (p.Asp2157His)
c.5512G>C (p.Asp1838His)
c.5503G>C (p.Asp1835His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37052432G=CA1539572205NIPBLc.7129G= (p.Asp2377=)
n.1011G=
c.1-12146G= (n.1-12146G=)
c.6385G= (p.Asp2129=)
c.6931G= (p.Asp2311=)
c.6748G= (p.Asp2250=)
c.6469G= (p.Asp2157=)
c.5512G= (p.Asp1838=)
c.5503G= (p.Asp1835=)
5g.37052432G>TCA359511348NIPBLc.7129G>T (p.Asp2377Tyr)
n.1011G>T
c.1-12146G>T (n.1-12146G>T)
c.6385G>T (p.Asp2129Tyr)
c.6931G>T (p.Asp2311Tyr)
c.6748G>T (p.Asp2250Tyr)
c.6469G>T (p.Asp2157Tyr)
c.5512G>T (p.Asp1838Tyr)
c.5503G>T (p.Asp1835Tyr)
5g.37052433A>CCA359511350NIPBLc.7130A>C (p.Asp2377Ala)
n.1012A>C
c.1-12145A>C (n.1-12145A>C)
c.6386A>C (p.Asp2129Ala)
c.6932A>C (p.Asp2311Ala)
c.6749A>C (p.Asp2250Ala)
c.6470A>C (p.Asp2157Ala)
c.5513A>C (p.Asp1838Ala)
c.5504A>C (p.Asp1835Ala)
5g.37052433A>GCA359511351NIPBLc.7130A>G (p.Asp2377Gly)
n.1012A>G
c.1-12145A>G (n.1-12145A>G)
c.6386A>G (p.Asp2129Gly)
c.6932A>G (p.Asp2311Gly)
c.6749A>G (p.Asp2250Gly)
c.6470A>G (p.Asp2157Gly)
c.5513A>G (p.Asp1838Gly)
c.5504A>G (p.Asp1835Gly)
5g.37052433A>TCA359511352NIPBLc.7130A>T (p.Asp2377Val)
n.1012A>T
c.1-12145A>T (n.1-12145A>T)
c.6386A>T (p.Asp2129Val)
c.6932A>T (p.Asp2311Val)
c.6749A>T (p.Asp2250Val)
c.6470A>T (p.Asp2157Val)
c.5513A>T (p.Asp1838Val)
c.5504A>T (p.Asp1835Val)
5g.37052434T>ACA359511353NIPBLc.7131T>A (p.Asp2377Glu)
n.1013T>A
c.1-12144T>A (n.1-12144T>A)
c.6387T>A (p.Asp2129Glu)
c.6933T>A (p.Asp2311Glu)
c.6750T>A (p.Asp2250Glu)
c.6471T>A (p.Asp2157Glu)
c.5514T>A (p.Asp1838Glu)
c.5505T>A (p.Asp1835Glu)
5g.37052434T>CCA443911589NIPBLc.7131T>C (p.Asp2377=)
n.1013T>C
c.1-12144T>C (n.1-12144T>C)
c.6387T>C (p.Asp2129=)
c.6933T>C (p.Asp2311=)
c.6750T>C (p.Asp2250=)
c.6471T>C (p.Asp2157=)
c.5514T>C (p.Asp1838=)
c.5505T>C (p.Asp1835=)
5g.37052434T>GCA359511355NIPBLc.7131T>G (p.Asp2377Glu)
n.1013T>G
c.1-12144T>G (n.1-12144T>G)
c.6387T>G (p.Asp2129Glu)
c.6933T>G (p.Asp2311Glu)
c.6750T>G (p.Asp2250Glu)
c.6471T>G (p.Asp2157Glu)
c.5514T>G (p.Asp1838Glu)
c.5505T>G (p.Asp1835Glu)
5g.37052435C>ACA359511359NIPBLc.7132C>A (p.Pro2378Thr)
n.1014C>A
c.1-12143C>A (n.1-12143C>A)
c.6388C>A (p.Pro2130Thr)
c.6934C>A (p.Pro2312Thr)
c.6751C>A (p.Pro2251Thr)
c.6472C>A (p.Pro2158Thr)
c.5515C>A (p.Pro1839Thr)
c.5506C>A (p.Pro1836Thr)
 gnomAD v4
5g.37052435C=CA1539572211NIPBLc.7132C= (p.Pro2378=)
n.1014C=
c.1-12143C= (n.1-12143C=)
c.6388C= (p.Pro2130=)
c.6934C= (p.Pro2312=)
c.6751C= (p.Pro2251=)
c.6472C= (p.Pro2158=)
c.5515C= (p.Pro1839=)
c.5506C= (p.Pro1836=)
5g.37052435C>GCA3237146NIPBLc.7132C>G (p.Pro2378Ala)
n.1014C>G
c.1-12143C>G (n.1-12143C>G)
c.6388C>G (p.Pro2130Ala)
c.6934C>G (p.Pro2312Ala)
c.6751C>G (p.Pro2251Ala)
c.6472C>G (p.Pro2158Ala)
c.5515C>G (p.Pro1839Ala)
c.5506C>G (p.Pro1836Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37052435C>TCA359511363NIPBLc.7132C>T (p.Pro2378Ser)
n.1014C>T
c.1-12143C>T (n.1-12143C>T)
c.6388C>T (p.Pro2130Ser)
c.6934C>T (p.Pro2312Ser)
c.6751C>T (p.Pro2251Ser)
c.6472C>T (p.Pro2158Ser)
c.5515C>T (p.Pro1839Ser)
c.5506C>T (p.Pro1836Ser)
5g.37052436C>ACA359511369NIPBLc.7133C>A (p.Pro2378His)
n.1015C>A
c.1-12142C>A (n.1-12142C>A)
c.6389C>A (p.Pro2130His)
c.6935C>A (p.Pro2312His)
c.6752C>A (p.Pro2251His)
c.6473C>A (p.Pro2158His)
c.5516C>A (p.Pro1839His)
c.5507C>A (p.Pro1836His)
5g.37052436C=CA1539572216NIPBLc.7133C= (p.Pro2378=)
n.1015C=
c.1-12142C= (n.1-12142C=)
c.6389C= (p.Pro2130=)
c.6935C= (p.Pro2312=)
c.6752C= (p.Pro2251=)
c.6473C= (p.Pro2158=)
c.5516C= (p.Pro1839=)
c.5507C= (p.Pro1836=)
5g.37052436C>GCA359511367NIPBLc.7133C>G (p.Pro2378Arg)
n.1015C>G
c.1-12142C>G (n.1-12142C>G)
c.6389C>G (p.Pro2130Arg)
c.6935C>G (p.Pro2312Arg)
c.6752C>G (p.Pro2251Arg)
c.6473C>G (p.Pro2158Arg)
c.5516C>G (p.Pro1839Arg)
c.5507C>G (p.Pro1836Arg)
5g.37052436C>TCA359511365NIPBLc.7133C>T (p.Pro2378Leu)
n.1015C>T
c.1-12142C>T (n.1-12142C>T)
c.6389C>T (p.Pro2130Leu)
c.6935C>T (p.Pro2312Leu)
c.6752C>T (p.Pro2251Leu)
c.6473C>T (p.Pro2158Leu)
c.5516C>T (p.Pro1839Leu)
c.5507C>T (p.Pro1836Leu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
5g.37052437T>ACA443911601NIPBLc.7134T>A (p.Pro2378=)
n.1016T>A
c.1-12141T>A (n.1-12141T>A)
c.6390T>A (p.Pro2130=)
c.6936T>A (p.Pro2312=)
c.6753T>A (p.Pro2251=)
c.6474T>A (p.Pro2158=)
c.5517T>A (p.Pro1839=)
c.5508T>A (p.Pro1836=)
5g.37052437T>CCA443911604NIPBLc.7134T>C (p.Pro2378=)
n.1016T>C
c.1-12141T>C (n.1-12141T>C)
c.6390T>C (p.Pro2130=)
c.6936T>C (p.Pro2312=)
c.6753T>C (p.Pro2251=)
c.6474T>C (p.Pro2158=)
c.5517T>C (p.Pro1839=)
c.5508T>C (p.Pro1836=)
 dbSNP gnomAD v4
5g.37052437T>GCA443911606NIPBLc.7134T>G (p.Pro2378=)
n.1016T>G
c.1-12141T>G (n.1-12141T>G)
c.6390T>G (p.Pro2130=)
c.6936T>G (p.Pro2312=)
c.6753T>G (p.Pro2251=)
c.6474T>G (p.Pro2158=)
c.5517T>G (p.Pro1839=)
c.5508T>G (p.Pro1836=)
5g.37052437T=CA1539572219NIPBLc.7134T= (p.Pro2378=)
n.1016T=
c.1-12141T= (n.1-12141T=)
c.6390T= (p.Pro2130=)
c.6936T= (p.Pro2312=)
c.6753T= (p.Pro2251=)
c.6474T= (p.Pro2158=)
c.5517T= (p.Pro1839=)
c.5508T= (p.Pro1836=)
5g.37052438G>ACA359511377NIPBLc.7135G>A (p.Val2379Ile)
n.1017G>A
c.1-12140G>A (n.1-12140G>A)
c.6391G>A (p.Val2131Ile)
c.6937G>A (p.Val2313Ile)
c.6754G>A (p.Val2252Ile)
c.6475G>A (p.Val2159Ile)
c.5518G>A (p.Val1840Ile)
c.5509G>A (p.Val1837Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.37052438G>CCA359511372NIPBLc.7135G>C (p.Val2379Leu)
n.1017G>C
c.1-12140G>C (n.1-12140G>C)
c.6391G>C (p.Val2131Leu)
c.6937G>C (p.Val2313Leu)
c.6754G>C (p.Val2252Leu)
c.6475G>C (p.Val2159Leu)
c.5518G>C (p.Val1840Leu)
c.5509G>C (p.Val1837Leu)
5g.37052438G=CA1539572229NIPBLc.7135G= (p.Val2379=)
n.1017G=
c.1-12140G= (n.1-12140G=)
c.6391G= (p.Val2131=)
c.6937G= (p.Val2313=)
c.6754G= (p.Val2252=)
c.6475G= (p.Val2159=)
c.5518G= (p.Val1840=)
c.5509G= (p.Val1837=)
5g.37052438G>TCA359511375NIPBLc.7135G>T (p.Val2379Leu)
n.1017G>T
c.1-12140G>T (n.1-12140G>T)
c.6391G>T (p.Val2131Leu)
c.6937G>T (p.Val2313Leu)
c.6754G>T (p.Val2252Leu)
c.6475G>T (p.Val2159Leu)
c.5518G>T (p.Val1840Leu)
c.5509G>T (p.Val1837Leu)
5g.37052439T>ACA359511380NIPBLc.7136T>A (p.Val2379Glu)
n.1018T>A
c.1-12139T>A (n.1-12139T>A)
c.6392T>A (p.Val2131Glu)
c.6938T>A (p.Val2313Glu)
c.6755T>A (p.Val2252Glu)
c.6476T>A (p.Val2159Glu)
c.5519T>A (p.Val1840Glu)
c.5510T>A (p.Val1837Glu)
5g.37052439T>CCA359511382NIPBLc.7136T>C (p.Val2379Ala)
n.1018T>C
c.1-12139T>C (n.1-12139T>C)
c.6392T>C (p.Val2131Ala)
c.6938T>C (p.Val2313Ala)
c.6755T>C (p.Val2252Ala)
c.6476T>C (p.Val2159Ala)
c.5519T>C (p.Val1840Ala)
c.5510T>C (p.Val1837Ala)
5g.37052439T>GCA359511384NIPBLc.7136T>G (p.Val2379Gly)
n.1018T>G
c.1-12139T>G (n.1-12139T>G)
c.6392T>G (p.Val2131Gly)
c.6938T>G (p.Val2313Gly)
c.6755T>G (p.Val2252Gly)
c.6476T>G (p.Val2159Gly)
c.5519T>G (p.Val1840Gly)
c.5510T>G (p.Val1837Gly)
5g.37052440A>CCA443911615NIPBLc.7137A>C (p.Val2379=)
n.1019A>C
c.1-12138A>C (n.1-12138A>C)
c.6393A>C (p.Val2131=)
c.6939A>C (p.Val2313=)
c.6756A>C (p.Val2252=)
c.6477A>C (p.Val2159=)
c.5520A>C (p.Val1840=)
c.5511A>C (p.Val1837=)
5g.37052440A>GCA443911617NIPBLc.7137A>G (p.Val2379=)
n.1019A>G
c.1-12138A>G (n.1-12138A>G)
c.6393A>G (p.Val2131=)
c.6939A>G (p.Val2313=)
c.6756A>G (p.Val2252=)
c.6477A>G (p.Val2159=)
c.5520A>G (p.Val1840=)
c.5511A>G (p.Val1837=)
 gnomAD v4
5g.37052440A>TCA443911620NIPBLc.7137A>T (p.Val2379=)
n.1019A>T
c.1-12138A>T (n.1-12138A>T)
c.6393A>T (p.Val2131=)
c.6939A>T (p.Val2313=)
c.6756A>T (p.Val2252=)
c.6477A>T (p.Val2159=)
c.5520A>T (p.Val1840=)
c.5511A>T (p.Val1837=)
5g.37052441A>CCA443911622NIPBLc.7138A>C (p.Arg2380=)
n.1020A>C
c.1-12137A>C (n.1-12137A>C)
c.6394A>C (p.Arg2132=)
c.6940A>C (p.Arg2314=)
c.6757A>C (p.Arg2253=)
c.6478A>C (p.Arg2160=)
c.5521A>C (p.Arg1841=)
c.5512A>C (p.Arg1838=)
5g.37052441A>GCA359511385NIPBLc.7138A>G (p.Arg2380Gly)
n.1020A>G
c.1-12137A>G (n.1-12137A>G)
c.6394A>G (p.Arg2132Gly)
c.6940A>G (p.Arg2314Gly)
c.6757A>G (p.Arg2253Gly)
c.6478A>G (p.Arg2160Gly)
c.5521A>G (p.Arg1841Gly)
c.5512A>G (p.Arg1838Gly)

Number of alleles fetched