Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37052445G>ACA359511397NIPBLc.7142G>A (p.Gly2381Asp)
n.1024G>A
c.1-12133G>A (n.1-12133G>A)
c.6398G>A (p.Gly2133Asp)
c.6944G>A (p.Gly2315Asp)
c.6761G>A (p.Gly2254Asp)
c.6482G>A (p.Gly2161Asp)
c.5525G>A (p.Gly1842Asp)
c.5516G>A (p.Gly1839Asp)
5g.37052445G>CCA359511398NIPBLc.7142G>C (p.Gly2381Ala)
n.1024G>C
c.1-12133G>C (n.1-12133G>C)
c.6398G>C (p.Gly2133Ala)
c.6944G>C (p.Gly2315Ala)
c.6761G>C (p.Gly2254Ala)
c.6482G>C (p.Gly2161Ala)
c.5525G>C (p.Gly1842Ala)
c.5516G>C (p.Gly1839Ala)
5g.37052445G>TCA359511401NIPBLc.7142G>T (p.Gly2381Val)
n.1024G>T
c.1-12133G>T (n.1-12133G>T)
c.6398G>T (p.Gly2133Val)
c.6944G>T (p.Gly2315Val)
c.6761G>T (p.Gly2254Val)
c.6482G>T (p.Gly2161Val)
c.5525G>T (p.Gly1842Val)
c.5516G>T (p.Gly1839Val)
5g.37052446T>ACA443911644NIPBLc.7143T>A (p.Gly2381=)
n.1025T>A
c.1-12132T>A (n.1-12132T>A)
c.6399T>A (p.Gly2133=)
c.6945T>A (p.Gly2315=)
c.6762T>A (p.Gly2254=)
c.6483T>A (p.Gly2161=)
c.5526T>A (p.Gly1842=)
c.5517T>A (p.Gly1839=)
5g.37052446T>CCA443911646NIPBLc.7143T>C (p.Gly2381=)
n.1025T>C
c.1-12132T>C (n.1-12132T>C)
c.6399T>C (p.Gly2133=)
c.6945T>C (p.Gly2315=)
c.6762T>C (p.Gly2254=)
c.6483T>C (p.Gly2161=)
c.5526T>C (p.Gly1842=)
c.5517T>C (p.Gly1839=)
5g.37052446T>GCA443911648NIPBLc.7143T>G (p.Gly2381=)
n.1025T>G
c.1-12132T>G (n.1-12132T>G)
c.6399T>G (p.Gly2133=)
c.6945T>G (p.Gly2315=)
c.6762T>G (p.Gly2254=)
c.6483T>G (p.Gly2161=)
c.5526T>G (p.Gly1842=)
c.5517T>G (p.Gly1839=)
5g.37052447T>ACA359511412NIPBLc.7144T>A (p.Phe2382Ile)
n.1026T>A
c.1-12131T>A (n.1-12131T>A)
c.6400T>A (p.Phe2134Ile)
c.6946T>A (p.Phe2316Ile)
c.6763T>A (p.Phe2255Ile)
c.6484T>A (p.Phe2162Ile)
c.5527T>A (p.Phe1843Ile)
c.5518T>A (p.Phe1840Ile)
5g.37052447T>CCA359511416NIPBLc.7144T>C (p.Phe2382Leu)
n.1026T>C
c.1-12131T>C (n.1-12131T>C)
c.6400T>C (p.Phe2134Leu)
c.6946T>C (p.Phe2316Leu)
c.6763T>C (p.Phe2255Leu)
c.6484T>C (p.Phe2162Leu)
c.5527T>C (p.Phe1843Leu)
c.5518T>C (p.Phe1840Leu)
5g.37052447T>GCA359511418NIPBLc.7144T>G (p.Phe2382Val)
n.1026T>G
c.1-12131T>G (n.1-12131T>G)
c.6400T>G (p.Phe2134Val)
c.6946T>G (p.Phe2316Val)
c.6763T>G (p.Phe2255Val)
c.6484T>G (p.Phe2162Val)
c.5527T>G (p.Phe1843Val)
c.5518T>G (p.Phe1840Val)
5g.37052448T>ACA359511419NIPBLc.7145T>A (p.Phe2382Tyr)
n.1027T>A
c.1-12130T>A (n.1-12130T>A)
c.6401T>A (p.Phe2134Tyr)
c.6947T>A (p.Phe2316Tyr)
c.6764T>A (p.Phe2255Tyr)
c.6485T>A (p.Phe2162Tyr)
c.5528T>A (p.Phe1843Tyr)
c.5519T>A (p.Phe1840Tyr)
5g.37052448T>CCA359511422NIPBLc.7145T>C (p.Phe2382Ser)
n.1027T>C
c.1-12130T>C (n.1-12130T>C)
c.6401T>C (p.Phe2134Ser)
c.6947T>C (p.Phe2316Ser)
c.6764T>C (p.Phe2255Ser)
c.6485T>C (p.Phe2162Ser)
c.5528T>C (p.Phe1843Ser)
c.5519T>C (p.Phe1840Ser)
5g.37052448T>GCA359511426NIPBLc.7145T>G (p.Phe2382Cys)
n.1027T>G
c.1-12130T>G (n.1-12130T>G)
c.6401T>G (p.Phe2134Cys)
c.6947T>G (p.Phe2316Cys)
c.6764T>G (p.Phe2255Cys)
c.6485T>G (p.Phe2162Cys)
c.5528T>G (p.Phe1843Cys)
c.5519T>G (p.Phe1840Cys)
5g.37052449C>ACA359511428NIPBLc.7146C>A (p.Phe2382Leu)
n.1028C>A
c.1-12129C>A (n.1-12129C>A)
c.6402C>A (p.Phe2134Leu)
c.6948C>A (p.Phe2316Leu)
c.6765C>A (p.Phe2255Leu)
c.6486C>A (p.Phe2162Leu)
c.5529C>A (p.Phe1843Leu)
c.5520C>A (p.Phe1840Leu)
5g.37052449C>GCA359511430NIPBLc.7146C>G (p.Phe2382Leu)
n.1028C>G
c.1-12129C>G (n.1-12129C>G)
c.6402C>G (p.Phe2134Leu)
c.6948C>G (p.Phe2316Leu)
c.6765C>G (p.Phe2255Leu)
c.6486C>G (p.Phe2162Leu)
c.5529C>G (p.Phe1843Leu)
c.5520C>G (p.Phe1840Leu)
5g.37052449C>TCA443911661NIPBLc.7146C>T (p.Phe2382=)
n.1028C>T
c.1-12129C>T (n.1-12129C>T)
c.6402C>T (p.Phe2134=)
c.6948C>T (p.Phe2316=)
c.6765C>T (p.Phe2255=)
c.6486C>T (p.Phe2162=)
c.5529C>T (p.Phe1843=)
c.5520C>T (p.Phe1840=)
 COSMIC
5g.37052450A>CCA443911666NIPBLc.7147A>C (p.Arg2383=)
n.1029A>C
c.1-12128A>C (n.1-12128A>C)
c.6403A>C (p.Arg2135=)
c.6949A>C (p.Arg2317=)
c.6766A>C (p.Arg2256=)
c.6487A>C (p.Arg2163=)
c.5530A>C (p.Arg1844=)
c.5521A>C (p.Arg1841=)
5g.37052450A>GCA359511433NIPBLc.7147A>G (p.Arg2383Gly)
n.1029A>G
c.1-12128A>G (n.1-12128A>G)
c.6403A>G (p.Arg2135Gly)
c.6949A>G (p.Arg2317Gly)
c.6766A>G (p.Arg2256Gly)
c.6487A>G (p.Arg2163Gly)
c.5530A>G (p.Arg1844Gly)
c.5521A>G (p.Arg1841Gly)
5g.37052450A>TCA359511434NIPBLc.7147A>T (p.Arg2383Ter)
n.1029A>T
c.1-12128A>T (n.1-12128A>T)
c.6403A>T (p.Arg2135Ter)
c.6949A>T (p.Arg2317Ter)
c.6766A>T (p.Arg2256Ter)
c.6487A>T (p.Arg2163Ter)
c.5530A>T (p.Arg1844Ter)
c.5521A>T (p.Arg1841Ter)
5g.37052454_37052458delCA2695204433NIPBLc.7151_7155del (p.Gln2384ArgfsTer4)
n.1033_1037del
c.1-12124_1-12120del (n.1-12124_1-12120del)
c.6407_6411del (p.Gln2136ArgfsTer4)
c.6953_6957del (p.Gln2318ArgfsTer4)
c.6770_6774del (p.Gln2257ArgfsTer4)
c.6491_6495del (p.Gln2164ArgfsTer4)
c.5534_5538del (p.Gln1845ArgfsTer4)
c.5525_5529del (p.Gln1842ArgfsTer4)
5g.37052451G>ACA359511439NIPBLc.7148G>A (p.Arg2383Lys)
n.1030G>A
c.1-12127G>A (n.1-12127G>A)
c.6404G>A (p.Arg2135Lys)
c.6950G>A (p.Arg2317Lys)
c.6767G>A (p.Arg2256Lys)
c.6488G>A (p.Arg2163Lys)
c.5531G>A (p.Arg1844Lys)
c.5522G>A (p.Arg1841Lys)
5g.37052451G>CCA359511440NIPBLc.7148G>C (p.Arg2383Thr)
n.1030G>C
c.1-12127G>C (n.1-12127G>C)
c.6404G>C (p.Arg2135Thr)
c.6950G>C (p.Arg2317Thr)
c.6767G>C (p.Arg2256Thr)
c.6488G>C (p.Arg2163Thr)
c.5531G>C (p.Arg1844Thr)
c.5522G>C (p.Arg1841Thr)
5g.37052451G>TCA359511437NIPBLc.7148G>T (p.Arg2383Ile)
n.1030G>T
c.1-12127G>T (n.1-12127G>T)
c.6404G>T (p.Arg2135Ile)
c.6950G>T (p.Arg2317Ile)
c.6767G>T (p.Arg2256Ile)
c.6488G>T (p.Arg2163Ile)
c.5531G>T (p.Arg1844Ile)
c.5522G>T (p.Arg1841Ile)
5g.37052452A=CA1539572242NIPBLc.7149A= (p.Arg2383=)
n.1031A=
c.1-12126A= (n.1-12126A=)
c.6405A= (p.Arg2135=)
c.6951A= (p.Arg2317=)
c.6768A= (p.Arg2256=)
c.6489A= (p.Arg2163=)
c.5532A= (p.Arg1844=)
c.5523A= (p.Arg1841=)
5g.37052452A>CCA359511443NIPBLc.7149A>C (p.Arg2383Ser)
n.1031A>C
c.1-12126A>C (n.1-12126A>C)
c.6405A>C (p.Arg2135Ser)
c.6951A>C (p.Arg2317Ser)
c.6768A>C (p.Arg2256Ser)
c.6489A>C (p.Arg2163Ser)
c.5532A>C (p.Arg1844Ser)
c.5523A>C (p.Arg1841Ser)
5g.37052452A>GCA3237147NIPBLc.7149A>G (p.Arg2383=)
n.1031A>G
c.1-12126A>G (n.1-12126A>G)
c.6405A>G (p.Arg2135=)
c.6951A>G (p.Arg2317=)
c.6768A>G (p.Arg2256=)
c.6489A>G (p.Arg2163=)
c.5532A>G (p.Arg1844=)
c.5523A>G (p.Arg1841=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.37052452A>TCA359511447NIPBLc.7149A>T (p.Arg2383Ser)
n.1031A>T
c.1-12126A>T (n.1-12126A>T)
c.6405A>T (p.Arg2135Ser)
c.6951A>T (p.Arg2317Ser)
c.6768A>T (p.Arg2256Ser)
c.6489A>T (p.Arg2163Ser)
c.5532A>T (p.Arg1844Ser)
c.5523A>T (p.Arg1841Ser)
5g.37052453C>ACA359511450NIPBLc.7150C>A (p.Gln2384Lys)
n.1032C>A
c.1-12125C>A (n.1-12125C>A)
c.6406C>A (p.Gln2136Lys)
c.6952C>A (p.Gln2318Lys)
c.6769C>A (p.Gln2257Lys)
c.6490C>A (p.Gln2164Lys)
c.5533C>A (p.Gln1845Lys)
c.5524C>A (p.Gln1842Lys)
5g.37052453C=CA1539572246NIPBLc.7150C= (p.Gln2384=)
n.1032C=
c.1-12125C= (n.1-12125C=)
c.6406C= (p.Gln2136=)
c.6952C= (p.Gln2318=)
c.6769C= (p.Gln2257=)
c.6490C= (p.Gln2164=)
c.5533C= (p.Gln1845=)
c.5524C= (p.Gln1842=)
5g.37052453C>GCA359511452NIPBLc.7150C>G (p.Gln2384Glu)
n.1032C>G
c.1-12125C>G (n.1-12125C>G)
c.6406C>G (p.Gln2136Glu)
c.6952C>G (p.Gln2318Glu)
c.6769C>G (p.Gln2257Glu)
c.6490C>G (p.Gln2164Glu)
c.5533C>G (p.Gln1845Glu)
c.5524C>G (p.Gln1842Glu)
5g.37052453C>TCA10654758NIPBLc.7150C>T (p.Gln2384Ter)
n.1032C>T
c.1-12125C>T (n.1-12125C>T)
c.6406C>T (p.Gln2136Ter)
c.6952C>T (p.Gln2318Ter)
c.6769C>T (p.Gln2257Ter)
c.6490C>T (p.Gln2164Ter)
c.5533C>T (p.Gln1845Ter)
c.5524C>T (p.Gln1842Ter)
 ClinVar dbSNP
5g.37052454A>CCA359511457NIPBLc.7151A>C (p.Gln2384Pro)
n.1033A>C
c.1-12124A>C (n.1-12124A>C)
c.6407A>C (p.Gln2136Pro)
c.6953A>C (p.Gln2318Pro)
c.6770A>C (p.Gln2257Pro)
c.6491A>C (p.Gln2164Pro)
c.5534A>C (p.Gln1845Pro)
c.5525A>C (p.Gln1842Pro)
5g.37052454A>GCA359511458NIPBLc.7151A>G (p.Gln2384Arg)
n.1033A>G
c.1-12124A>G (n.1-12124A>G)
c.6407A>G (p.Gln2136Arg)
c.6953A>G (p.Gln2318Arg)
c.6770A>G (p.Gln2257Arg)
c.6491A>G (p.Gln2164Arg)
c.5534A>G (p.Gln1845Arg)
c.5525A>G (p.Gln1842Arg)
5g.37052454A>TCA359511460NIPBLc.7151A>T (p.Gln2384Leu)
n.1033A>T
c.1-12124A>T (n.1-12124A>T)
c.6407A>T (p.Gln2136Leu)
c.6953A>T (p.Gln2318Leu)
c.6770A>T (p.Gln2257Leu)
c.6491A>T (p.Gln2164Leu)
c.5534A>T (p.Gln1845Leu)
c.5525A>T (p.Gln1842Leu)
5g.37052455A=CA1539572249NIPBLc.7152A= (p.Gln2384=)
n.1034A=
c.1-12123A= (n.1-12123A=)
c.6408A= (p.Gln2136=)
c.6954A= (p.Gln2318=)
c.6771A= (p.Gln2257=)
c.6492A= (p.Gln2164=)
c.5535A= (p.Gln1845=)
c.5526A= (p.Gln1842=)
5g.37052455A>CCA359511462NIPBLc.7152A>C (p.Gln2384His)
n.1034A>C
c.1-12123A>C (n.1-12123A>C)
c.6408A>C (p.Gln2136His)
c.6954A>C (p.Gln2318His)
c.6771A>C (p.Gln2257His)
c.6492A>C (p.Gln2164His)
c.5535A>C (p.Gln1845His)
c.5526A>C (p.Gln1842His)
5g.37052455A>GCA443911690NIPBLc.7152A>G (p.Gln2384=)
n.1034A>G
c.1-12123A>G (n.1-12123A>G)
c.6408A>G (p.Gln2136=)
c.6954A>G (p.Gln2318=)
c.6771A>G (p.Gln2257=)
c.6492A>G (p.Gln2164=)
c.5535A>G (p.Gln1845=)
c.5526A>G (p.Gln1842=)
 dbSNP gnomAD v2
5g.37052455A>TCA359511463NIPBLc.7152A>T (p.Gln2384His)
n.1034A>T
c.1-12123A>T (n.1-12123A>T)
c.6408A>T (p.Gln2136His)
c.6954A>T (p.Gln2318His)
c.6771A>T (p.Gln2257His)
c.6492A>T (p.Gln2164His)
c.5535A>T (p.Gln1845His)
c.5526A>T (p.Gln1842His)
5g.37052456G>ACA359511465NIPBLc.7153G>A (p.Asp2385Asn)
n.1035G>A
c.1-12122G>A (n.1-12122G>A)
c.6409G>A (p.Asp2137Asn)
c.6955G>A (p.Asp2319Asn)
c.6772G>A (p.Asp2258Asn)
c.6493G>A (p.Asp2165Asn)
c.5536G>A (p.Asp1846Asn)
c.5527G>A (p.Asp1843Asn)
 dbSNP gnomAD v3 gnomAD v4
5g.37052456G>CCA359511468NIPBLc.7153G>C (p.Asp2385His)
n.1035G>C
c.1-12122G>C (n.1-12122G>C)
c.6409G>C (p.Asp2137His)
c.6955G>C (p.Asp2319His)
c.6772G>C (p.Asp2258His)
c.6493G>C (p.Asp2165His)
c.5536G>C (p.Asp1846His)
c.5527G>C (p.Asp1843His)
5g.37052456G=CA1539572252NIPBLc.7153G= (p.Asp2385=)
n.1035G=
c.1-12122G= (n.1-12122G=)
c.6409G= (p.Asp2137=)
c.6955G= (p.Asp2319=)
c.6772G= (p.Asp2258=)
c.6493G= (p.Asp2165=)
c.5536G= (p.Asp1846=)
c.5527G= (p.Asp1843=)
5g.37052456G>TCA359511470NIPBLc.7153G>T (p.Asp2385Tyr)
n.1035G>T
c.1-12122G>T (n.1-12122G>T)
c.6409G>T (p.Asp2137Tyr)
c.6955G>T (p.Asp2319Tyr)
c.6772G>T (p.Asp2258Tyr)
c.6493G>T (p.Asp2165Tyr)
c.5536G>T (p.Asp1846Tyr)
c.5527G>T (p.Asp1843Tyr)
 gnomAD v4
5g.37052457A>CCA359511477NIPBLc.7154A>C (p.Asp2385Ala)
n.1036A>C
c.1-12121A>C (n.1-12121A>C)
c.6410A>C (p.Asp2137Ala)
c.6956A>C (p.Asp2319Ala)
c.6773A>C (p.Asp2258Ala)
c.6494A>C (p.Asp2165Ala)
c.5537A>C (p.Asp1846Ala)
c.5528A>C (p.Asp1843Ala)
5g.37052457A>GCA359511476NIPBLc.7154A>G (p.Asp2385Gly)
n.1036A>G
c.1-12121A>G (n.1-12121A>G)
c.6410A>G (p.Asp2137Gly)
c.6956A>G (p.Asp2319Gly)
c.6773A>G (p.Asp2258Gly)
c.6494A>G (p.Asp2165Gly)
c.5537A>G (p.Asp1846Gly)
c.5528A>G (p.Asp1843Gly)
 gnomAD v4
5g.37052457A>TCA359511473NIPBLc.7154A>T (p.Asp2385Val)
n.1036A>T
c.1-12121A>T (n.1-12121A>T)
c.6410A>T (p.Asp2137Val)
c.6956A>T (p.Asp2319Val)
c.6773A>T (p.Asp2258Val)
c.6494A>T (p.Asp2165Val)
c.5537A>T (p.Asp1846Val)
c.5528A>T (p.Asp1843Val)
5g.37052458C>ACA359511479NIPBLc.7155C>A (p.Asp2385Glu)
n.1037C>A
c.1-12120C>A (n.1-12120C>A)
c.6411C>A (p.Asp2137Glu)
c.6957C>A (p.Asp2319Glu)
c.6774C>A (p.Asp2258Glu)
c.6495C>A (p.Asp2165Glu)
c.5538C>A (p.Asp1846Glu)
c.5529C>A (p.Asp1843Glu)
5g.37052458C=CA1539572257NIPBLc.7155C= (p.Asp2385=)
n.1037C=
c.1-12120C= (n.1-12120C=)
c.6411C= (p.Asp2137=)
c.6957C= (p.Asp2319=)
c.6774C= (p.Asp2258=)
c.6495C= (p.Asp2165=)
c.5538C= (p.Asp1846=)
c.5529C= (p.Asp1843=)
5g.37052458C>GCA359511480NIPBLc.7155C>G (p.Asp2385Glu)
n.1037C>G
c.1-12120C>G (n.1-12120C>G)
c.6411C>G (p.Asp2137Glu)
c.6957C>G (p.Asp2319Glu)
c.6774C>G (p.Asp2258Glu)
c.6495C>G (p.Asp2165Glu)
c.5538C>G (p.Asp1846Glu)
c.5529C>G (p.Asp1843Glu)
5g.37052458C>TCA3237148NIPBLc.7155C>T (p.Asp2385=)
n.1037C>T
c.1-12120C>T (n.1-12120C>T)
c.6411C>T (p.Asp2137=)
c.6957C>T (p.Asp2319=)
c.6774C>T (p.Asp2258=)
c.6495C>T (p.Asp2165=)
c.5538C>T (p.Asp1846=)
c.5529C>T (p.Asp1843=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37052459G>ACA359511485NIPBLc.7156G>A (p.Glu2386Lys)
n.1038G>A
c.1-12119G>A (n.1-12119G>A)
c.6412G>A (p.Glu2138Lys)
c.6958G>A (p.Glu2320Lys)
c.6775G>A (p.Glu2259Lys)
c.6496G>A (p.Glu2166Lys)
c.5539G>A (p.Glu1847Lys)
c.5530G>A (p.Glu1844Lys)
 gnomAD v4 COSMIC COSMIC
5g.37052459G>CCA359511487NIPBLc.7156G>C (p.Glu2386Gln)
n.1038G>C
c.1-12119G>C (n.1-12119G>C)
c.6412G>C (p.Glu2138Gln)
c.6958G>C (p.Glu2320Gln)
c.6775G>C (p.Glu2259Gln)
c.6496G>C (p.Glu2166Gln)
c.5539G>C (p.Glu1847Gln)
c.5530G>C (p.Glu1844Gln)
5g.37052459G>TCA359511488NIPBLc.7156G>T (p.Glu2386Ter)
n.1038G>T
c.1-12119G>T (n.1-12119G>T)
c.6412G>T (p.Glu2138Ter)
c.6958G>T (p.Glu2320Ter)
c.6775G>T (p.Glu2259Ter)
c.6496G>T (p.Glu2166Ter)
c.5539G>T (p.Glu1847Ter)
c.5530G>T (p.Glu1844Ter)
5g.37052460A>CCA359511491NIPBLc.7157A>C (p.Glu2386Ala)
n.1039A>C
c.1-12118A>C (n.1-12118A>C)
c.6413A>C (p.Glu2138Ala)
c.6959A>C (p.Glu2320Ala)
c.6776A>C (p.Glu2259Ala)
c.6497A>C (p.Glu2166Ala)
c.5540A>C (p.Glu1847Ala)
c.5531A>C (p.Glu1844Ala)
5g.37052460A>GCA359511492NIPBLc.7157A>G (p.Glu2386Gly)
n.1039A>G
c.1-12118A>G (n.1-12118A>G)
c.6413A>G (p.Glu2138Gly)
c.6959A>G (p.Glu2320Gly)
c.6776A>G (p.Glu2259Gly)
c.6497A>G (p.Glu2166Gly)
c.5540A>G (p.Glu1847Gly)
c.5531A>G (p.Glu1844Gly)
5g.37052460A>TCA359511495NIPBLc.7157A>T (p.Glu2386Val)
n.1039A>T
c.1-12118A>T (n.1-12118A>T)
c.6413A>T (p.Glu2138Val)
c.6959A>T (p.Glu2320Val)
c.6776A>T (p.Glu2259Val)
c.6497A>T (p.Glu2166Val)
c.5540A>T (p.Glu1847Val)
c.5531A>T (p.Glu1844Val)
5g.37052461G>ACA443911714NIPBLc.7158G>A (p.Glu2386=)
n.1040G>A
c.1-12117G>A (n.1-12117G>A)
c.6414G>A (p.Glu2138=)
c.6960G>A (p.Glu2320=)
c.6777G>A (p.Glu2259=)
c.6498G>A (p.Glu2166=)
c.5541G>A (p.Glu1847=)
c.5532G>A (p.Glu1844=)
 gnomAD v4
5g.37052461G>CCA359511498NIPBLc.7158G>C (p.Glu2386Asp)
n.1040G>C
c.1-12117G>C (n.1-12117G>C)
c.6414G>C (p.Glu2138Asp)
c.6960G>C (p.Glu2320Asp)
c.6777G>C (p.Glu2259Asp)
c.6498G>C (p.Glu2166Asp)
c.5541G>C (p.Glu1847Asp)
c.5532G>C (p.Glu1844Asp)
 gnomAD v4
5g.37052461G>TCA359511501NIPBLc.7158G>T (p.Glu2386Asp)
n.1040G>T
c.1-12117G>T (n.1-12117G>T)
c.6414G>T (p.Glu2138Asp)
c.6960G>T (p.Glu2320Asp)
c.6777G>T (p.Glu2259Asp)
c.6498G>T (p.Glu2166Asp)
c.5541G>T (p.Glu1847Asp)
c.5532G>T (p.Glu1844Asp)
5g.37052462T>ACA359511505NIPBLc.7159T>A (p.Ser2387Thr)
n.1041T>A
c.1-12116T>A (n.1-12116T>A)
c.6415T>A (p.Ser2139Thr)
c.6961T>A (p.Ser2321Thr)
c.6778T>A (p.Ser2260Thr)
c.6499T>A (p.Ser2167Thr)
c.5542T>A (p.Ser1848Thr)
c.5533T>A (p.Ser1845Thr)
5g.37052462T>CCA359511503NIPBLc.7159T>C (p.Ser2387Pro)
n.1041T>C
c.1-12116T>C (n.1-12116T>C)
c.6415T>C (p.Ser2139Pro)
c.6961T>C (p.Ser2321Pro)
c.6778T>C (p.Ser2260Pro)
c.6499T>C (p.Ser2167Pro)
c.5542T>C (p.Ser1848Pro)
c.5533T>C (p.Ser1845Pro)
5g.37052462T>GCA359511502NIPBLc.7159T>G (p.Ser2387Ala)
n.1041T>G
c.1-12116T>G (n.1-12116T>G)
c.6415T>G (p.Ser2139Ala)
c.6961T>G (p.Ser2321Ala)
c.6778T>G (p.Ser2260Ala)
c.6499T>G (p.Ser2167Ala)
c.5542T>G (p.Ser1848Ala)
c.5533T>G (p.Ser1845Ala)
 dbSNP
5g.37052462T=CA1539572263NIPBLc.7159T= (p.Ser2387=)
n.1041T=
c.1-12116T= (n.1-12116T=)
c.6415T= (p.Ser2139=)
c.6961T= (p.Ser2321=)
c.6778T= (p.Ser2260=)
c.6499T= (p.Ser2167=)
c.5542T= (p.Ser1848=)
c.5533T= (p.Ser1845=)
5g.37052463C>ACA359511507NIPBLc.7160C>A (p.Ser2387Tyr)
n.1042C>A
c.1-12115C>A (n.1-12115C>A)
c.6416C>A (p.Ser2139Tyr)
c.6962C>A (p.Ser2321Tyr)
c.6779C>A (p.Ser2260Tyr)
c.6500C>A (p.Ser2167Tyr)
c.5543C>A (p.Ser1848Tyr)
c.5534C>A (p.Ser1845Tyr)
5g.37052463C>GCA359511508NIPBLc.7160C>G (p.Ser2387Cys)
n.1042C>G
c.1-12115C>G (n.1-12115C>G)
c.6416C>G (p.Ser2139Cys)
c.6962C>G (p.Ser2321Cys)
c.6779C>G (p.Ser2260Cys)
c.6500C>G (p.Ser2167Cys)
c.5543C>G (p.Ser1848Cys)
c.5534C>G (p.Ser1845Cys)
5g.37052463C>TCA359511510NIPBLc.7160C>T (p.Ser2387Phe)
n.1042C>T
c.1-12115C>T (n.1-12115C>T)
c.6416C>T (p.Ser2139Phe)
c.6962C>T (p.Ser2321Phe)
c.6779C>T (p.Ser2260Phe)
c.6500C>T (p.Ser2167Phe)
c.5543C>T (p.Ser1848Phe)
c.5534C>T (p.Ser1845Phe)
5g.37052464C>ACA443911729NIPBLc.7161C>A (p.Ser2387=)
n.1043C>A
c.1-12114C>A (n.1-12114C>A)
c.6417C>A (p.Ser2139=)
c.6963C>A (p.Ser2321=)
c.6780C>A (p.Ser2260=)
c.6501C>A (p.Ser2167=)
c.5544C>A (p.Ser1848=)
c.5535C>A (p.Ser1845=)
5g.37052464C=CA1539572268NIPBLc.7161C= (p.Ser2387=)
n.1043C=
c.1-12114C= (n.1-12114C=)
c.6417C= (p.Ser2139=)
c.6963C= (p.Ser2321=)
c.6780C= (p.Ser2260=)
c.6501C= (p.Ser2167=)
c.5544C= (p.Ser1848=)
c.5535C= (p.Ser1845=)
5g.37052464C>GCA443911731NIPBLc.7161C>G (p.Ser2387=)
n.1043C>G
c.1-12114C>G (n.1-12114C>G)
c.6417C>G (p.Ser2139=)
c.6963C>G (p.Ser2321=)
c.6780C>G (p.Ser2260=)
c.6501C>G (p.Ser2167=)
c.5544C>G (p.Ser1848=)
c.5535C>G (p.Ser1845=)
 gnomAD v4
5g.37052464C>TCA443911733NIPBLc.7161C>T (p.Ser2387=)
n.1043C>T
c.1-12114C>T (n.1-12114C>T)
c.6417C>T (p.Ser2139=)
c.6963C>T (p.Ser2321=)
c.6780C>T (p.Ser2260=)
c.6501C>T (p.Ser2167=)
c.5544C>T (p.Ser1848=)
c.5535C>T (p.Ser1845=)
 dbSNP
5g.37052465T>ACA359511511NIPBLc.7162T>A (p.Ser2388Thr)
n.1044T>A
c.1-12113T>A (n.1-12113T>A)
c.6418T>A (p.Ser2140Thr)
c.6964T>A (p.Ser2322Thr)
c.6781T>A (p.Ser2261Thr)
c.6502T>A (p.Ser2168Thr)
c.5545T>A (p.Ser1849Thr)
c.5536T>A (p.Ser1846Thr)
5g.37052465T>CCA359511514NIPBLc.7162T>C (p.Ser2388Pro)
n.1044T>C
c.1-12113T>C (n.1-12113T>C)
c.6418T>C (p.Ser2140Pro)
c.6964T>C (p.Ser2322Pro)
c.6781T>C (p.Ser2261Pro)
c.6502T>C (p.Ser2168Pro)
c.5545T>C (p.Ser1849Pro)
c.5536T>C (p.Ser1846Pro)
5g.37052465T>GCA359511515NIPBLc.7162T>G (p.Ser2388Ala)
n.1044T>G
c.1-12113T>G (n.1-12113T>G)
c.6418T>G (p.Ser2140Ala)
c.6964T>G (p.Ser2322Ala)
c.6781T>G (p.Ser2261Ala)
c.6502T>G (p.Ser2168Ala)
c.5545T>G (p.Ser1849Ala)
c.5536T>G (p.Ser1846Ala)
5g.37052466C>ACA359511520NIPBLc.7163C>A (p.Ser2388Tyr)
n.1045C>A
c.1-12112C>A (n.1-12112C>A)
c.6419C>A (p.Ser2140Tyr)
c.6965C>A (p.Ser2322Tyr)
c.6782C>A (p.Ser2261Tyr)
c.6503C>A (p.Ser2168Tyr)
c.5546C>A (p.Ser1849Tyr)
c.5537C>A (p.Ser1846Tyr)
5g.37052466C=CA1539572274NIPBLc.7163C= (p.Ser2388=)
n.1045C=
c.1-12112C= (n.1-12112C=)
c.6419C= (p.Ser2140=)
c.6965C= (p.Ser2322=)
c.6782C= (p.Ser2261=)
c.6503C= (p.Ser2168=)
c.5546C= (p.Ser1849=)
c.5537C= (p.Ser1846=)
5g.37052466C>GCA359511517NIPBLc.7163C>G (p.Ser2388Cys)
n.1045C>G
c.1-12112C>G (n.1-12112C>G)
c.6419C>G (p.Ser2140Cys)
c.6965C>G (p.Ser2322Cys)
c.6782C>G (p.Ser2261Cys)
c.6503C>G (p.Ser2168Cys)
c.5546C>G (p.Ser1849Cys)
c.5537C>G (p.Ser1846Cys)
 dbSNP gnomAD v4
5g.37052466C>TCA359511518NIPBLc.7163C>T (p.Ser2388Phe)
n.1045C>T
c.1-12112C>T (n.1-12112C>T)
c.6419C>T (p.Ser2140Phe)
c.6965C>T (p.Ser2322Phe)
c.6782C>T (p.Ser2261Phe)
c.6503C>T (p.Ser2168Phe)
c.5546C>T (p.Ser1849Phe)
c.5537C>T (p.Ser1846Phe)
5g.37052467T>ACA3237150NIPBLc.7164T>A (p.Ser2388=)
n.1046T>A
c.1-12111T>A (n.1-12111T>A)
c.6420T>A (p.Ser2140=)
c.6966T>A (p.Ser2322=)
c.6783T>A (p.Ser2261=)
c.6504T>A (p.Ser2168=)
c.5547T>A (p.Ser1849=)
c.5538T>A (p.Ser1846=)
 dbSNP ExAC gnomAD v3 gnomAD v4
5g.37052467T>CCA3237149NIPBLc.7164T>C (p.Ser2388=)
n.1046T>C
c.1-12111T>C (n.1-12111T>C)
c.6420T>C (p.Ser2140=)
c.6966T>C (p.Ser2322=)
c.6783T>C (p.Ser2261=)
c.6504T>C (p.Ser2168=)
c.5547T>C (p.Ser1849=)
c.5538T>C (p.Ser1846=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37052467T>GCA443911748NIPBLc.7164T>G (p.Ser2388=)
n.1046T>G
c.1-12111T>G (n.1-12111T>G)
c.6420T>G (p.Ser2140=)
c.6966T>G (p.Ser2322=)
c.6783T>G (p.Ser2261=)
c.6504T>G (p.Ser2168=)
c.5547T>G (p.Ser1849=)
c.5538T>G (p.Ser1846=)
5g.37052467T=CA1539572281NIPBLc.7164T= (p.Ser2388=)
n.1046T=
c.1-12111T= (n.1-12111T=)
c.6420T= (p.Ser2140=)
c.6966T= (p.Ser2322=)
c.6783T= (p.Ser2261=)
c.6504T= (p.Ser2168=)
c.5547T= (p.Ser1849=)
c.5538T= (p.Ser1846=)
5g.37052468A=CA1539572287NIPBLc.7165A= (p.Ser2389=)
n.1047A=
c.1-12110A= (n.1-12110A=)
c.6421A= (p.Ser2141=)
c.6967A= (p.Ser2323=)
c.6784A= (p.Ser2262=)
c.6505A= (p.Ser2169=)
c.5548A= (p.Ser1850=)
c.5539A= (p.Ser1847=)
5g.37052468A>CCA359511526NIPBLc.7165A>C (p.Ser2389Arg)
n.1047A>C
c.1-12110A>C (n.1-12110A>C)
c.6421A>C (p.Ser2141Arg)
c.6967A>C (p.Ser2323Arg)
c.6784A>C (p.Ser2262Arg)
c.6505A>C (p.Ser2169Arg)
c.5548A>C (p.Ser1850Arg)
c.5539A>C (p.Ser1847Arg)
5g.37052468A>GCA359511529NIPBLc.7165A>G (p.Ser2389Gly)
n.1047A>G
c.1-12110A>G (n.1-12110A>G)
c.6421A>G (p.Ser2141Gly)
c.6967A>G (p.Ser2323Gly)
c.6784A>G (p.Ser2262Gly)
c.6505A>G (p.Ser2169Gly)
c.5548A>G (p.Ser1850Gly)
c.5539A>G (p.Ser1847Gly)
 dbSNP gnomAD v2 gnomAD v4
5g.37052468A>TCA359511532NIPBLc.7165A>T (p.Ser2389Cys)
n.1047A>T
c.1-12110A>T (n.1-12110A>T)
c.6421A>T (p.Ser2141Cys)
c.6967A>T (p.Ser2323Cys)
c.6784A>T (p.Ser2262Cys)
c.6505A>T (p.Ser2169Cys)
c.5548A>T (p.Ser1850Cys)
c.5539A>T (p.Ser1847Cys)
5g.37052469G>ACA359511534NIPBLc.7166G>A (p.Ser2389Asn)
n.1048G>A
c.1-12109G>A (n.1-12109G>A)
c.6422G>A (p.Ser2141Asn)
c.6968G>A (p.Ser2323Asn)
c.6785G>A (p.Ser2262Asn)
c.6506G>A (p.Ser2169Asn)
c.5549G>A (p.Ser1850Asn)
c.5540G>A (p.Ser1847Asn)
 dbSNP gnomAD v3 gnomAD v4
5g.37052469G>CCA359511539NIPBLc.7166G>C (p.Ser2389Thr)
n.1048G>C
c.1-12109G>C (n.1-12109G>C)
c.6422G>C (p.Ser2141Thr)
c.6968G>C (p.Ser2323Thr)
c.6785G>C (p.Ser2262Thr)
c.6506G>C (p.Ser2169Thr)
c.5549G>C (p.Ser1850Thr)
c.5540G>C (p.Ser1847Thr)
5g.37052469G=CA1539572290NIPBLc.7166G= (p.Ser2389=)
n.1048G=
c.1-12109G= (n.1-12109G=)
c.6422G= (p.Ser2141=)
c.6968G= (p.Ser2323=)
c.6785G= (p.Ser2262=)
c.6506G= (p.Ser2169=)
c.5549G= (p.Ser1850=)
c.5540G= (p.Ser1847=)
5g.37052469G>TCA3237151NIPBLc.7166G>T (p.Ser2389Ile)
n.1048G>T
c.1-12109G>T (n.1-12109G>T)
c.6422G>T (p.Ser2141Ile)
c.6968G>T (p.Ser2323Ile)
c.6785G>T (p.Ser2262Ile)
c.6506G>T (p.Ser2169Ile)
c.5549G>T (p.Ser1850Ile)
c.5540G>T (p.Ser1847Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37052470C>ACA359511544NIPBLc.7167C>A (p.Ser2389Arg)
n.1049C>A
c.1-12108C>A (n.1-12108C>A)
c.6423C>A (p.Ser2141Arg)
c.6969C>A (p.Ser2323Arg)
c.6786C>A (p.Ser2262Arg)
c.6507C>A (p.Ser2169Arg)
c.5550C>A (p.Ser1850Arg)
c.5541C>A (p.Ser1847Arg)
5g.37052470C=CA1539572292NIPBLc.7167C= (p.Ser2389=)
n.1049C=
c.1-12108C= (n.1-12108C=)
c.6423C= (p.Ser2141=)
c.6969C= (p.Ser2323=)
c.6786C= (p.Ser2262=)
c.6507C= (p.Ser2169=)
c.5550C= (p.Ser1850=)
c.5541C= (p.Ser1847=)
5g.37052470C>GCA359511546NIPBLc.7167C>G (p.Ser2389Arg)
n.1049C>G
c.1-12108C>G (n.1-12108C>G)
c.6423C>G (p.Ser2141Arg)
c.6969C>G (p.Ser2323Arg)
c.6786C>G (p.Ser2262Arg)
c.6507C>G (p.Ser2169Arg)
c.5550C>G (p.Ser1850Arg)
c.5541C>G (p.Ser1847Arg)
5g.37052470C>TCA443911760NIPBLc.7167C>T (p.Ser2389=)
n.1049C>T
c.1-12108C>T (n.1-12108C>T)
c.6423C>T (p.Ser2141=)
c.6969C>T (p.Ser2323=)
c.6786C>T (p.Ser2262=)
c.6507C>T (p.Ser2169=)
c.5550C>T (p.Ser1850=)
c.5541C>T (p.Ser1847=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37052471G>ACA272292NIPBLc.7168G>A (p.Ala2390Thr)
n.1050G>A
c.1-12107G>A (n.1-12107G>A)
c.6424G>A (p.Ala2142Thr)
c.6970G>A (p.Ala2324Thr)
c.6787G>A (p.Ala2263Thr)
c.6508G>A (p.Ala2170Thr)
c.5551G>A (p.Ala1851Thr)
c.5542G>A (p.Ala1848Thr)
 ClinVar dbSNP COSMIC COSMIC
5g.37052471G>CCA359511551NIPBLc.7168G>C (p.Ala2390Pro)
n.1050G>C
c.1-12107G>C (n.1-12107G>C)
c.6424G>C (p.Ala2142Pro)
c.6970G>C (p.Ala2324Pro)
c.6787G>C (p.Ala2263Pro)
c.6508G>C (p.Ala2170Pro)
c.5551G>C (p.Ala1851Pro)
c.5542G>C (p.Ala1848Pro)
5g.37052471G=CA1539572303NIPBLc.7168G= (p.Ala2390=)
n.1050G=
c.1-12107G= (n.1-12107G=)
c.6424G= (p.Ala2142=)
c.6970G= (p.Ala2324=)
c.6787G= (p.Ala2263=)
c.6508G= (p.Ala2170=)
c.5551G= (p.Ala1851=)
c.5542G= (p.Ala1848=)
5g.37052471G>TCA359511555NIPBLc.7168G>T (p.Ala2390Ser)
n.1050G>T
c.1-12107G>T (n.1-12107G>T)
c.6424G>T (p.Ala2142Ser)
c.6970G>T (p.Ala2324Ser)
c.6787G>T (p.Ala2263Ser)
c.6508G>T (p.Ala2170Ser)
c.5551G>T (p.Ala1851Ser)
c.5542G>T (p.Ala1848Ser)
 ClinVar COSMIC COSMIC
5g.37052472C>ACA359511558NIPBLc.7169C>A (p.Ala2390Asp)
n.1051C>A
c.1-12106C>A (n.1-12106C>A)
c.6425C>A (p.Ala2142Asp)
c.6971C>A (p.Ala2324Asp)
c.6788C>A (p.Ala2263Asp)
c.6509C>A (p.Ala2170Asp)
c.5552C>A (p.Ala1851Asp)
c.5543C>A (p.Ala1848Asp)
5g.37052472C>GCA359511561NIPBLc.7169C>G (p.Ala2390Gly)
n.1051C>G
c.1-12106C>G (n.1-12106C>G)
c.6425C>G (p.Ala2142Gly)
c.6971C>G (p.Ala2324Gly)
c.6788C>G (p.Ala2263Gly)
c.6509C>G (p.Ala2170Gly)
c.5552C>G (p.Ala1851Gly)
c.5543C>G (p.Ala1848Gly)
5g.37052472C>TCA359511567NIPBLc.7169C>T (p.Ala2390Val)
n.1051C>T
c.1-12106C>T (n.1-12106C>T)
c.6425C>T (p.Ala2142Val)
c.6971C>T (p.Ala2324Val)
c.6788C>T (p.Ala2263Val)
c.6509C>T (p.Ala2170Val)
c.5552C>T (p.Ala1851Val)
c.5543C>T (p.Ala1848Val)
 ClinVar
5g.37052473T>ACA443911777NIPBLc.7170T>A (p.Ala2390=)
n.1052T>A
c.1-12105T>A (n.1-12105T>A)
c.6426T>A (p.Ala2142=)
c.6972T>A (p.Ala2324=)
c.6789T>A (p.Ala2263=)
c.6510T>A (p.Ala2170=)
c.5553T>A (p.Ala1851=)
c.5544T>A (p.Ala1848=)
5g.37052473T>CCA443911773NIPBLc.7170T>C (p.Ala2390=)
n.1052T>C
c.1-12105T>C (n.1-12105T>C)
c.6426T>C (p.Ala2142=)
c.6972T>C (p.Ala2324=)
c.6789T>C (p.Ala2263=)
c.6510T>C (p.Ala2170=)
c.5553T>C (p.Ala1851=)
c.5544T>C (p.Ala1848=)
5g.37052473T>GCA443911775NIPBLc.7170T>G (p.Ala2390=)
n.1052T>G
c.1-12105T>G (n.1-12105T>G)
c.6426T>G (p.Ala2142=)
c.6972T>G (p.Ala2324=)
c.6789T>G (p.Ala2263=)
c.6510T>G (p.Ala2170=)
c.5553T>G (p.Ala1851=)
c.5544T>G (p.Ala1848=)
5g.37052474T>ACA359511568NIPBLc.7171T>A (p.Leu2391Met)
n.1053T>A
c.1-12104T>A (n.1-12104T>A)
c.6427T>A (p.Leu2143Met)
c.6973T>A (p.Leu2325Met)
c.6790T>A (p.Leu2264Met)
c.6511T>A (p.Leu2171Met)
c.5554T>A (p.Leu1852Met)
c.5545T>A (p.Leu1849Met)
5g.37052474T>CCA443911781NIPBLc.7171T>C (p.Leu2391=)
n.1053T>C
c.1-12104T>C (n.1-12104T>C)
c.6427T>C (p.Leu2143=)
c.6973T>C (p.Leu2325=)
c.6790T>C (p.Leu2264=)
c.6511T>C (p.Leu2171=)
c.5554T>C (p.Leu1852=)
c.5545T>C (p.Leu1849=)
5g.37052474T>GCA359511570NIPBLc.7171T>G (p.Leu2391Val)
n.1053T>G
c.1-12104T>G (n.1-12104T>G)
c.6427T>G (p.Leu2143Val)
c.6973T>G (p.Leu2325Val)
c.6790T>G (p.Leu2264Val)
c.6511T>G (p.Leu2171Val)
c.5554T>G (p.Leu1852Val)
c.5545T>G (p.Leu1849Val)
5g.37052475T>ACA359511578NIPBLc.7172T>A (p.Leu2391Ter)
n.1054T>A
c.1-12103T>A (n.1-12103T>A)
c.6428T>A (p.Leu2143Ter)
c.6974T>A (p.Leu2325Ter)
c.6791T>A (p.Leu2264Ter)
c.6512T>A (p.Leu2171Ter)
c.5555T>A (p.Leu1852Ter)
c.5546T>A (p.Leu1849Ter)
5g.37052475T>CCA359511574NIPBLc.7172T>C (p.Leu2391Ser)
n.1054T>C
c.1-12103T>C (n.1-12103T>C)
c.6428T>C (p.Leu2143Ser)
c.6974T>C (p.Leu2325Ser)
c.6791T>C (p.Leu2264Ser)
c.6512T>C (p.Leu2171Ser)
c.5555T>C (p.Leu1852Ser)
c.5546T>C (p.Leu1849Ser)
 gnomAD v4
5g.37052475T>GCA359511573NIPBLc.7172T>G (p.Leu2391Trp)
n.1054T>G
c.1-12103T>G (n.1-12103T>G)
c.6428T>G (p.Leu2143Trp)
c.6974T>G (p.Leu2325Trp)
c.6791T>G (p.Leu2264Trp)
c.6512T>G (p.Leu2171Trp)
c.5555T>G (p.Leu1852Trp)
c.5546T>G (p.Leu1849Trp)
5g.37052476G>ACA443911789NIPBLc.7173G>A (p.Leu2391=)
n.1055G>A
c.1-12102G>A (n.1-12102G>A)
c.6429G>A (p.Leu2143=)
c.6975G>A (p.Leu2325=)
c.6792G>A (p.Leu2264=)
c.6513G>A (p.Leu2171=)
c.5556G>A (p.Leu1852=)
c.5547G>A (p.Leu1849=)
5g.37052476G>CCA359511580NIPBLc.7173G>C (p.Leu2391Phe)
n.1055G>C
c.1-12102G>C (n.1-12102G>C)
c.6429G>C (p.Leu2143Phe)
c.6975G>C (p.Leu2325Phe)
c.6792G>C (p.Leu2264Phe)
c.6513G>C (p.Leu2171Phe)
c.5556G>C (p.Leu1852Phe)
c.5547G>C (p.Leu1849Phe)
5g.37052476G=CA1539572306NIPBLc.7173G= (p.Leu2391=)
n.1055G=
c.1-12102G= (n.1-12102G=)
c.6429G= (p.Leu2143=)
c.6975G= (p.Leu2325=)
c.6792G= (p.Leu2264=)
c.6513G= (p.Leu2171=)
c.5556G= (p.Leu1852=)
c.5547G= (p.Leu1849=)
5g.37052476G>TCA3237152NIPBLc.7173G>T (p.Leu2391Phe)
n.1055G>T
c.1-12102G>T (n.1-12102G>T)
c.6429G>T (p.Leu2143Phe)
c.6975G>T (p.Leu2325Phe)
c.6792G>T (p.Leu2264Phe)
c.6513G>T (p.Leu2171Phe)
c.5556G>T (p.Leu1852Phe)
c.5547G>T (p.Leu1849Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37052477T>ACA359511583NIPBLc.7174T>A (p.Cys2392Ser)
n.1056T>A
c.1-12101T>A (n.1-12101T>A)
c.6430T>A (p.Cys2144Ser)
c.6976T>A (p.Cys2326Ser)
c.6793T>A (p.Cys2265Ser)
c.6514T>A (p.Cys2172Ser)
c.5557T>A (p.Cys1853Ser)
c.5548T>A (p.Cys1850Ser)
5g.37052477T>CCA359511588NIPBLc.7174T>C (p.Cys2392Arg)
n.1056T>C
c.1-12101T>C (n.1-12101T>C)
c.6430T>C (p.Cys2144Arg)
c.6976T>C (p.Cys2326Arg)
c.6793T>C (p.Cys2265Arg)
c.6514T>C (p.Cys2172Arg)
c.5557T>C (p.Cys1853Arg)
c.5548T>C (p.Cys1850Arg)
 COSMIC COSMIC
5g.37052477T>GCA359511585NIPBLc.7174T>G (p.Cys2392Gly)
n.1056T>G
c.1-12101T>G (n.1-12101T>G)
c.6430T>G (p.Cys2144Gly)
c.6976T>G (p.Cys2326Gly)
c.6793T>G (p.Cys2265Gly)
c.6514T>G (p.Cys2172Gly)
c.5557T>G (p.Cys1853Gly)
c.5548T>G (p.Cys1850Gly)
5g.37052478G>ACA10603965NIPBLc.7175G>A (p.Cys2392Tyr)
n.1057G>A
c.1-12100G>A (n.1-12100G>A)
c.6431G>A (p.Cys2144Tyr)
c.6977G>A (p.Cys2326Tyr)
c.6794G>A (p.Cys2265Tyr)
c.6515G>A (p.Cys2172Tyr)
c.5558G>A (p.Cys1853Tyr)
c.5549G>A (p.Cys1850Tyr)
 ClinVar dbSNP
5g.37052478G>CCA359511592NIPBLc.7175G>C (p.Cys2392Ser)
n.1057G>C
c.1-12100G>C (n.1-12100G>C)
c.6431G>C (p.Cys2144Ser)
c.6977G>C (p.Cys2326Ser)
c.6794G>C (p.Cys2265Ser)
c.6515G>C (p.Cys2172Ser)
c.5558G>C (p.Cys1853Ser)
c.5549G>C (p.Cys1850Ser)
5g.37052478G=CA1539572311NIPBLc.7175G= (p.Cys2392=)
n.1057G=
c.1-12100G= (n.1-12100G=)
c.6431G= (p.Cys2144=)
c.6977G= (p.Cys2326=)
c.6794G= (p.Cys2265=)
c.6515G= (p.Cys2172=)
c.5558G= (p.Cys1853=)
c.5549G= (p.Cys1850=)
5g.37052478G>TCA359511595NIPBLc.7175G>T (p.Cys2392Phe)
n.1057G>T
c.1-12100G>T (n.1-12100G>T)
c.6431G>T (p.Cys2144Phe)
c.6977G>T (p.Cys2326Phe)
c.6794G>T (p.Cys2265Phe)
c.6515G>T (p.Cys2172Phe)
c.5558G>T (p.Cys1853Phe)
c.5549G>T (p.Cys1850Phe)
5g.37052479T>ACA359511596NIPBLc.7176T>A (p.Cys2392Ter)
n.1058T>A
c.1-12099T>A (n.1-12099T>A)
c.6432T>A (p.Cys2144Ter)
c.6978T>A (p.Cys2326Ter)
c.6795T>A (p.Cys2265Ter)
c.6516T>A (p.Cys2172Ter)
c.5559T>A (p.Cys1853Ter)
c.5550T>A (p.Cys1850Ter)
5g.37052479T>CCA443911802NIPBLc.7176T>C (p.Cys2392=)
n.1058T>C
c.1-12099T>C (n.1-12099T>C)
c.6432T>C (p.Cys2144=)
c.6978T>C (p.Cys2326=)
c.6795T>C (p.Cys2265=)
c.6516T>C (p.Cys2172=)
c.5559T>C (p.Cys1853=)
c.5550T>C (p.Cys1850=)
5g.37052479T>GCA359511598NIPBLc.7176T>G (p.Cys2392Trp)
n.1058T>G
c.1-12099T>G (n.1-12099T>G)
c.6432T>G (p.Cys2144Trp)
c.6978T>G (p.Cys2326Trp)
c.6795T>G (p.Cys2265Trp)
c.6516T>G (p.Cys2172Trp)
c.5559T>G (p.Cys1853Trp)
c.5550T>G (p.Cys1850Trp)
5g.37052480T>ACA359511601NIPBLc.7177T>A (p.Ser2393Thr)
n.1059T>A
c.1-12098T>A (n.1-12098T>A)
c.6433T>A (p.Ser2145Thr)
c.6979T>A (p.Ser2327Thr)
c.6796T>A (p.Ser2266Thr)
c.6517T>A (p.Ser2173Thr)
c.5560T>A (p.Ser1854Thr)
c.5551T>A (p.Ser1851Thr)
5g.37052480T>CCA359511602NIPBLc.7177T>C (p.Ser2393Pro)
n.1059T>C
c.1-12098T>C (n.1-12098T>C)
c.6433T>C (p.Ser2145Pro)
c.6979T>C (p.Ser2327Pro)
c.6796T>C (p.Ser2266Pro)
c.6517T>C (p.Ser2173Pro)
c.5560T>C (p.Ser1854Pro)
c.5551T>C (p.Ser1851Pro)
5g.37052480T>GCA359511606NIPBLc.7177T>G (p.Ser2393Ala)
n.1059T>G
c.1-12098T>G (n.1-12098T>G)
c.6433T>G (p.Ser2145Ala)
c.6979T>G (p.Ser2327Ala)
c.6796T>G (p.Ser2266Ala)
c.6517T>G (p.Ser2173Ala)
c.5560T>G (p.Ser1854Ala)
c.5551T>G (p.Ser1851Ala)
5g.37052481C>ACA359511611NIPBLc.7178C>A (p.Ser2393Ter)
n.1060C>A
c.1-12097C>A (n.1-12097C>A)
c.6434C>A (p.Ser2145Ter)
c.6980C>A (p.Ser2327Ter)
c.6797C>A (p.Ser2266Ter)
c.6518C>A (p.Ser2173Ter)
c.5561C>A (p.Ser1854Ter)
c.5552C>A (p.Ser1851Ter)
 gnomAD v4
5g.37052481C>GCA359511613NIPBLc.7178C>G (p.Ser2393Ter)
n.1060C>G
c.1-12097C>G (n.1-12097C>G)
c.6434C>G (p.Ser2145Ter)
c.6980C>G (p.Ser2327Ter)
c.6797C>G (p.Ser2266Ter)
c.6518C>G (p.Ser2173Ter)
c.5561C>G (p.Ser1854Ter)
c.5552C>G (p.Ser1851Ter)
5g.37052481C>TCA359511615NIPBLc.7178C>T (p.Ser2393Leu)
n.1060C>T
c.1-12097C>T (n.1-12097C>T)
c.6434C>T (p.Ser2145Leu)
c.6980C>T (p.Ser2327Leu)
c.6797C>T (p.Ser2266Leu)
c.6518C>T (p.Ser2173Leu)
c.5561C>T (p.Ser1854Leu)
c.5552C>T (p.Ser1851Leu)
5g.37052482A>CCA443911819NIPBLc.7179A>C (p.Ser2393=)
n.1061A>C
c.1-12096A>C (n.1-12096A>C)
c.6435A>C (p.Ser2145=)
c.6981A>C (p.Ser2327=)
c.6798A>C (p.Ser2266=)
c.6519A>C (p.Ser2173=)
c.5562A>C (p.Ser1854=)
c.5553A>C (p.Ser1851=)
5g.37052482A>GCA443911815NIPBLc.7179A>G (p.Ser2393=)
n.1061A>G
c.1-12096A>G (n.1-12096A>G)
c.6435A>G (p.Ser2145=)
c.6981A>G (p.Ser2327=)
c.6798A>G (p.Ser2266=)
c.6519A>G (p.Ser2173=)
c.5562A>G (p.Ser1854=)
c.5553A>G (p.Ser1851=)
5g.37052482A>TCA443911817NIPBLc.7179A>T (p.Ser2393=)
n.1061A>T
c.1-12096A>T (n.1-12096A>T)
c.6435A>T (p.Ser2145=)
c.6981A>T (p.Ser2327=)
c.6798A>T (p.Ser2266=)
c.6519A>T (p.Ser2173=)
c.5562A>T (p.Ser1854=)
c.5553A>T (p.Ser1851=)
5g.37052483C>ACA359511627NIPBLc.7180C>A (p.His2394Asn)
n.1062C>A
c.1-12095C>A (n.1-12095C>A)
c.6436C>A (p.His2146Asn)
c.6982C>A (p.His2328Asn)
c.6799C>A (p.His2267Asn)
c.6520C>A (p.His2174Asn)
c.5563C>A (p.His1855Asn)
c.5554C>A (p.His1852Asn)
5g.37052483C>GCA359511621NIPBLc.7180C>G (p.His2394Asp)
n.1062C>G
c.1-12095C>G (n.1-12095C>G)
c.6436C>G (p.His2146Asp)
c.6982C>G (p.His2328Asp)
c.6799C>G (p.His2267Asp)
c.6520C>G (p.His2174Asp)
c.5563C>G (p.His1855Asp)
c.5554C>G (p.His1852Asp)
5g.37052483C>TCA359511624NIPBLc.7180C>T (p.His2394Tyr)
n.1062C>T
c.1-12095C>T (n.1-12095C>T)
c.6436C>T (p.His2146Tyr)
c.6982C>T (p.His2328Tyr)
c.6799C>T (p.His2267Tyr)
c.6520C>T (p.His2174Tyr)
c.5563C>T (p.His1855Tyr)
c.5554C>T (p.His1852Tyr)
5g.37052484A>CCA359511630NIPBLc.7181A>C (p.His2394Pro)
n.1063A>C
c.1-12094A>C (n.1-12094A>C)
c.6437A>C (p.His2146Pro)
c.6983A>C (p.His2328Pro)
c.6800A>C (p.His2267Pro)
c.6521A>C (p.His2174Pro)
c.5564A>C (p.His1855Pro)
c.5555A>C (p.His1852Pro)
5g.37052484A>GCA359511632NIPBLc.7181A>G (p.His2394Arg)
n.1063A>G
c.1-12094A>G (n.1-12094A>G)
c.6437A>G (p.His2146Arg)
c.6983A>G (p.His2328Arg)
c.6800A>G (p.His2267Arg)
c.6521A>G (p.His2174Arg)
c.5564A>G (p.His1855Arg)
c.5555A>G (p.His1852Arg)
5g.37052484A>TCA359511633NIPBLc.7181A>T (p.His2394Leu)
n.1063A>T
c.1-12094A>T (n.1-12094A>T)
c.6437A>T (p.His2146Leu)
c.6983A>T (p.His2328Leu)
c.6800A>T (p.His2267Leu)
c.6521A>T (p.His2174Leu)
c.5564A>T (p.His1855Leu)
c.5555A>T (p.His1852Leu)
5g.37052485C>ACA117051543NIPBLc.7182C>A (p.His2394Gln)
n.1064C>A
c.1-12093C>A (n.1-12093C>A)
c.6438C>A (p.His2146Gln)
c.6984C>A (p.His2328Gln)
c.6801C>A (p.His2267Gln)
c.6522C>A (p.His2174Gln)
c.5565C>A (p.His1855Gln)
c.5556C>A (p.His1852Gln)
 dbSNP
5g.37052485C=CA1539572318NIPBLc.7182C= (p.His2394=)
n.1064C=
c.1-12093C= (n.1-12093C=)
c.6438C= (p.His2146=)
c.6984C= (p.His2328=)
c.6801C= (p.His2267=)
c.6522C= (p.His2174=)
c.5565C= (p.His1855=)
c.5556C= (p.His1852=)
5g.37052485C>GCA359511640NIPBLc.7182C>G (p.His2394Gln)
n.1064C>G
c.1-12093C>G (n.1-12093C>G)
c.6438C>G (p.His2146Gln)
c.6984C>G (p.His2328Gln)
c.6801C>G (p.His2267Gln)
c.6522C>G (p.His2174Gln)
c.5565C>G (p.His1855Gln)
c.5556C>G (p.His1852Gln)
5g.37052485C>TCA443911832NIPBLc.7182C>T (p.His2394=)
n.1064C>T
c.1-12093C>T (n.1-12093C>T)
c.6438C>T (p.His2146=)
c.6984C>T (p.His2328=)
c.6801C>T (p.His2267=)
c.6522C>T (p.His2174=)
c.5565C>T (p.His1855=)
c.5556C>T (p.His1852=)
 gnomAD v4
5g.37052486C>ACA359511642NIPBLc.7183C>A (p.Leu2395Ile)
n.1065C>A
c.1-12092C>A (n.1-12092C>A)
c.6439C>A (p.Leu2147Ile)
c.6985C>A (p.Leu2329Ile)
c.6802C>A (p.Leu2268Ile)
c.6523C>A (p.Leu2175Ile)
c.5566C>A (p.Leu1856Ile)
c.5557C>A (p.Leu1853Ile)
5g.37052486C>GCA359511643NIPBLc.7183C>G (p.Leu2395Val)
n.1065C>G
c.1-12092C>G (n.1-12092C>G)
c.6439C>G (p.Leu2147Val)
c.6985C>G (p.Leu2329Val)
c.6802C>G (p.Leu2268Val)
c.6523C>G (p.Leu2175Val)
c.5566C>G (p.Leu1856Val)
c.5557C>G (p.Leu1853Val)
5g.37052486C>TCA359511646NIPBLc.7183C>T (p.Leu2395Phe)
n.1065C>T
c.1-12092C>T (n.1-12092C>T)
c.6439C>T (p.Leu2147Phe)
c.6985C>T (p.Leu2329Phe)
c.6802C>T (p.Leu2268Phe)
c.6523C>T (p.Leu2175Phe)
c.5566C>T (p.Leu1856Phe)
c.5557C>T (p.Leu1853Phe)
5g.37052487T>ACA359511647NIPBLc.7184T>A (p.Leu2395His)
n.1066T>A
c.1-12091T>A (n.1-12091T>A)
c.6440T>A (p.Leu2147His)
c.6986T>A (p.Leu2329His)
c.6803T>A (p.Leu2268His)
c.6524T>A (p.Leu2175His)
c.5567T>A (p.Leu1856His)
c.5558T>A (p.Leu1853His)
5g.37052487T>CCA359511650NIPBLc.7184T>C (p.Leu2395Pro)
n.1066T>C
c.1-12091T>C (n.1-12091T>C)
c.6440T>C (p.Leu2147Pro)
c.6986T>C (p.Leu2329Pro)
c.6803T>C (p.Leu2268Pro)
c.6524T>C (p.Leu2175Pro)
c.5567T>C (p.Leu1856Pro)
c.5558T>C (p.Leu1853Pro)
5g.37052487T>GCA359511651NIPBLc.7184T>G (p.Leu2395Arg)
n.1066T>G
c.1-12091T>G (n.1-12091T>G)
c.6440T>G (p.Leu2147Arg)
c.6986T>G (p.Leu2329Arg)
c.6803T>G (p.Leu2268Arg)
c.6524T>G (p.Leu2175Arg)
c.5567T>G (p.Leu1856Arg)
c.5558T>G (p.Leu1853Arg)
5g.37052488T>ACA443911844NIPBLc.7185T>A (p.Leu2395=)
n.1067T>A
c.1-12090T>A (n.1-12090T>A)
c.6441T>A (p.Leu2147=)
c.6987T>A (p.Leu2329=)
c.6804T>A (p.Leu2268=)
c.6525T>A (p.Leu2175=)
c.5568T>A (p.Leu1856=)
c.5559T>A (p.Leu1853=)
5g.37052488T>CCA443911847NIPBLc.7185T>C (p.Leu2395=)
n.1067T>C
c.1-12090T>C (n.1-12090T>C)
c.6441T>C (p.Leu2147=)
c.6987T>C (p.Leu2329=)
c.6804T>C (p.Leu2268=)
c.6525T>C (p.Leu2175=)
c.5568T>C (p.Leu1856=)
c.5559T>C (p.Leu1853=)
5g.37052488T>GCA443911850NIPBLc.7185T>G (p.Leu2395=)
n.1067T>G
c.1-12090T>G (n.1-12090T>G)
c.6441T>G (p.Leu2147=)
c.6987T>G (p.Leu2329=)
c.6804T>G (p.Leu2268=)
c.6525T>G (p.Leu2175=)
c.5568T>G (p.Leu1856=)
c.5559T>G (p.Leu1853=)
 dbSNP gnomAD v2 gnomAD v4
5g.37052488T=CA1539572322NIPBLc.7185T= (p.Leu2395=)
n.1067T=
c.1-12090T= (n.1-12090T=)
c.6441T= (p.Leu2147=)
c.6987T= (p.Leu2329=)
c.6804T= (p.Leu2268=)
c.6525T= (p.Leu2175=)
c.5568T= (p.Leu1856=)
c.5559T= (p.Leu1853=)
5g.37052489T>ACA359511654NIPBLc.7186T>A (p.Tyr2396Asn)
n.1068T>A
c.1-12089T>A (n.1-12089T>A)
c.6442T>A (p.Tyr2148Asn)
c.6988T>A (p.Tyr2330Asn)
c.6805T>A (p.Tyr2269Asn)
c.6526T>A (p.Tyr2176Asn)
c.5569T>A (p.Tyr1857Asn)
c.5560T>A (p.Tyr1854Asn)
5g.37052489T>CCA359511656NIPBLc.7186T>C (p.Tyr2396His)
n.1068T>C
c.1-12089T>C (n.1-12089T>C)
c.6442T>C (p.Tyr2148His)
c.6988T>C (p.Tyr2330His)
c.6805T>C (p.Tyr2269His)
c.6526T>C (p.Tyr2176His)
c.5569T>C (p.Tyr1857His)
c.5560T>C (p.Tyr1854His)
5g.37052489T>GCA359511653NIPBLc.7186T>G (p.Tyr2396Asp)
n.1068T>G
c.1-12089T>G (n.1-12089T>G)
c.6442T>G (p.Tyr2148Asp)
c.6988T>G (p.Tyr2330Asp)
c.6805T>G (p.Tyr2269Asp)
c.6526T>G (p.Tyr2176Asp)
c.5569T>G (p.Tyr1857Asp)
c.5560T>G (p.Tyr1854Asp)
5g.37052490A>CCA359511659NIPBLc.7187A>C (p.Tyr2396Ser)
n.1069A>C
c.1-12088A>C (n.1-12088A>C)
c.6443A>C (p.Tyr2148Ser)
c.6989A>C (p.Tyr2330Ser)
c.6806A>C (p.Tyr2269Ser)
c.6527A>C (p.Tyr2176Ser)
c.5570A>C (p.Tyr1857Ser)
c.5561A>C (p.Tyr1854Ser)
5g.37052490A>GCA359511662NIPBLc.7187A>G (p.Tyr2396Cys)
n.1069A>G
c.1-12088A>G (n.1-12088A>G)
c.6443A>G (p.Tyr2148Cys)
c.6989A>G (p.Tyr2330Cys)
c.6806A>G (p.Tyr2269Cys)
c.6527A>G (p.Tyr2176Cys)
c.5570A>G (p.Tyr1857Cys)
c.5561A>G (p.Tyr1854Cys)
5g.37052490A>TCA359511664NIPBLc.7187A>T (p.Tyr2396Phe)
n.1069A>T
c.1-12088A>T (n.1-12088A>T)
c.6443A>T (p.Tyr2148Phe)
c.6989A>T (p.Tyr2330Phe)
c.6806A>T (p.Tyr2269Phe)
c.6527A>T (p.Tyr2176Phe)
c.5570A>T (p.Tyr1857Phe)
c.5561A>T (p.Tyr1854Phe)
5g.37052491C>ACA359511665NIPBLc.7188C>A (p.Tyr2396Ter)
n.1070C>A
c.1-12087C>A (n.1-12087C>A)
c.6444C>A (p.Tyr2148Ter)
c.6990C>A (p.Tyr2330Ter)
c.6807C>A (p.Tyr2269Ter)
c.6528C>A (p.Tyr2176Ter)
c.5571C>A (p.Tyr1857Ter)
c.5562C>A (p.Tyr1854Ter)
5g.37052491C=CA1539572326NIPBLc.7188C= (p.Tyr2396=)
n.1070C=
c.1-12087C= (n.1-12087C=)
c.6444C= (p.Tyr2148=)
c.6990C= (p.Tyr2330=)
c.6807C= (p.Tyr2269=)
c.6528C= (p.Tyr2176=)
c.5571C= (p.Tyr1857=)
c.5562C= (p.Tyr1854=)
5g.37052491C>GCA359511666NIPBLc.7188C>G (p.Tyr2396Ter)
n.1070C>G
c.1-12087C>G (n.1-12087C>G)
c.6444C>G (p.Tyr2148Ter)
c.6990C>G (p.Tyr2330Ter)
c.6807C>G (p.Tyr2269Ter)
c.6528C>G (p.Tyr2176Ter)
c.5571C>G (p.Tyr1857Ter)
c.5562C>G (p.Tyr1854Ter)
5g.37052491C>TCA3237153NIPBLc.7188C>T (p.Tyr2396=)
n.1070C>T
c.1-12087C>T (n.1-12087C>T)
c.6444C>T (p.Tyr2148=)
c.6990C>T (p.Tyr2330=)
c.6807C>T (p.Tyr2269=)
c.6528C>T (p.Tyr2176=)
c.5571C>T (p.Tyr1857=)
c.5562C>T (p.Tyr1854=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37052492T>ACA359511675NIPBLc.7189T>A (p.Ser2397Thr)
n.1071T>A
c.1-12086T>A (n.1-12086T>A)
c.6445T>A (p.Ser2149Thr)
c.6991T>A (p.Ser2331Thr)
c.6808T>A (p.Ser2270Thr)
c.6529T>A (p.Ser2177Thr)
c.5572T>A (p.Ser1858Thr)
c.5563T>A (p.Ser1855Thr)
5g.37052492T>CCA359511677NIPBLc.7189T>C (p.Ser2397Pro)
n.1071T>C
c.1-12086T>C (n.1-12086T>C)
c.6445T>C (p.Ser2149Pro)
c.6991T>C (p.Ser2331Pro)
c.6808T>C (p.Ser2270Pro)
c.6529T>C (p.Ser2177Pro)
c.5572T>C (p.Ser1858Pro)
c.5563T>C (p.Ser1855Pro)
5g.37052492T>GCA359511679NIPBLc.7189T>G (p.Ser2397Ala)
n.1071T>G
c.1-12086T>G (n.1-12086T>G)
c.6445T>G (p.Ser2149Ala)
c.6991T>G (p.Ser2331Ala)
c.6808T>G (p.Ser2270Ala)
c.6529T>G (p.Ser2177Ala)
c.5572T>G (p.Ser1858Ala)
c.5563T>G (p.Ser1855Ala)
5g.37052493C>ACA359511683NIPBLc.7190C>A (p.Ser2397Tyr)
n.1072C>A
c.1-12085C>A (n.1-12085C>A)
c.6446C>A (p.Ser2149Tyr)
c.6992C>A (p.Ser2331Tyr)
c.6809C>A (p.Ser2270Tyr)
c.6530C>A (p.Ser2177Tyr)
c.5573C>A (p.Ser1858Tyr)
c.5564C>A (p.Ser1855Tyr)
5g.37052493C>GCA359511687NIPBLc.7190C>G (p.Ser2397Cys)
n.1072C>G
c.1-12085C>G (n.1-12085C>G)
c.6446C>G (p.Ser2149Cys)
c.6992C>G (p.Ser2331Cys)
c.6809C>G (p.Ser2270Cys)
c.6530C>G (p.Ser2177Cys)
c.5573C>G (p.Ser1858Cys)
c.5564C>G (p.Ser1855Cys)
5g.37052493C>TCA359511698NIPBLc.7190C>T (p.Ser2397Phe)
n.1072C>T
c.1-12085C>T (n.1-12085C>T)
c.6446C>T (p.Ser2149Phe)
c.6992C>T (p.Ser2331Phe)
c.6809C>T (p.Ser2270Phe)
c.6530C>T (p.Ser2177Phe)
c.5573C>T (p.Ser1858Phe)
c.5564C>T (p.Ser1855Phe)
 gnomAD v4
5g.37052494C>ACA443911875NIPBLc.7191C>A (p.Ser2397=)
n.1073C>A
c.1-12084C>A (n.1-12084C>A)
c.6447C>A (p.Ser2149=)
c.6993C>A (p.Ser2331=)
c.6810C>A (p.Ser2270=)
c.6531C>A (p.Ser2177=)
c.5574C>A (p.Ser1858=)
c.5565C>A (p.Ser1855=)
5g.37052494C>GCA443911877NIPBLc.7191C>G (p.Ser2397=)
n.1073C>G
c.1-12084C>G (n.1-12084C>G)
c.6447C>G (p.Ser2149=)
c.6993C>G (p.Ser2331=)
c.6810C>G (p.Ser2270=)
c.6531C>G (p.Ser2177=)
c.5574C>G (p.Ser1858=)
c.5565C>G (p.Ser1855=)
5g.37052494C>TCA443911880NIPBLc.7191C>T (p.Ser2397=)
n.1073C>T
c.1-12084C>T (n.1-12084C>T)
c.6447C>T (p.Ser2149=)
c.6993C>T (p.Ser2331=)
c.6810C>T (p.Ser2270=)
c.6531C>T (p.Ser2177=)
c.5574C>T (p.Ser1858=)
c.5565C>T (p.Ser1855=)
5g.37052494_37052498delCA2549411549NIPBLc.7191_7195del (p.Met2398ProfsTer19)
n.1073_1077del
c.1-12084_1-12080del (n.1-12084_1-12080del)
c.6447_6451del (p.Met2150ProfsTer19)
c.6993_6997del (p.Met2332ProfsTer19)
c.6810_6814del (p.Met2271ProfsTer19)
c.6531_6535del (p.Met2178ProfsTer19)
c.5574_5578del (p.Met1859ProfsTer19)
c.5565_5569del (p.Met1856ProfsTer19)
5g.37052495A=CA1539572330NIPBLc.7192A= (p.Met2398=)
n.1074A=
c.1-12083A= (n.1-12083A=)
c.6448A= (p.Met2150=)
c.6994A= (p.Met2332=)
c.6811A= (p.Met2271=)
c.6532A= (p.Met2178=)
c.5575A= (p.Met1859=)
c.5566A= (p.Met1856=)
5g.37052495A>CCA359511704NIPBLc.7192A>C (p.Met2398Leu)
n.1074A>C
c.1-12083A>C (n.1-12083A>C)
c.6448A>C (p.Met2150Leu)
c.6994A>C (p.Met2332Leu)
c.6811A>C (p.Met2271Leu)
c.6532A>C (p.Met2178Leu)
c.5575A>C (p.Met1859Leu)
c.5566A>C (p.Met1856Leu)
5g.37052495A>GCA359511706NIPBLc.7192A>G (p.Met2398Val)
n.1074A>G
c.1-12083A>G (n.1-12083A>G)
c.6448A>G (p.Met2150Val)
c.6994A>G (p.Met2332Val)
c.6811A>G (p.Met2271Val)
c.6532A>G (p.Met2178Val)
c.5575A>G (p.Met1859Val)
c.5566A>G (p.Met1856Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37052495A>TCA359511701NIPBLc.7192A>T (p.Met2398Leu)
n.1074A>T
c.1-12083A>T (n.1-12083A>T)
c.6448A>T (p.Met2150Leu)
c.6994A>T (p.Met2332Leu)
c.6811A>T (p.Met2271Leu)
c.6532A>T (p.Met2178Leu)
c.5575A>T (p.Met1859Leu)
c.5566A>T (p.Met1856Leu)
5g.37052496T>ACA359511709NIPBLc.7193T>A (p.Met2398Lys)
n.1075T>A
c.1-12082T>A (n.1-12082T>A)
c.6449T>A (p.Met2150Lys)
c.6995T>A (p.Met2332Lys)
c.6812T>A (p.Met2271Lys)
c.6533T>A (p.Met2178Lys)
c.5576T>A (p.Met1859Lys)
c.5567T>A (p.Met1856Lys)
5g.37052496T>CCA359511712NIPBLc.7193T>C (p.Met2398Thr)
n.1075T>C
c.1-12082T>C (n.1-12082T>C)
c.6449T>C (p.Met2150Thr)
c.6995T>C (p.Met2332Thr)
c.6812T>C (p.Met2271Thr)
c.6533T>C (p.Met2178Thr)
c.5576T>C (p.Met1859Thr)
c.5567T>C (p.Met1856Thr)
5g.37052496T>GCA359511716NIPBLc.7193T>G (p.Met2398Arg)
n.1075T>G
c.1-12082T>G (n.1-12082T>G)
c.6449T>G (p.Met2150Arg)
c.6995T>G (p.Met2332Arg)
c.6812T>G (p.Met2271Arg)
c.6533T>G (p.Met2178Arg)
c.5576T>G (p.Met1859Arg)
c.5567T>G (p.Met1856Arg)
5g.37052497G>ACA359511718NIPBLc.7194G>A (p.Met2398Ile)
n.1076G>A
c.1-12081G>A (n.1-12081G>A)
c.6450G>A (p.Met2150Ile)
c.6996G>A (p.Met2332Ile)
c.6813G>A (p.Met2271Ile)
c.6534G>A (p.Met2178Ile)
c.5577G>A (p.Met1859Ile)
c.5568G>A (p.Met1856Ile)
 dbSNP gnomAD v2 gnomAD v4
5g.37052497G>CCA359511721NIPBLc.7194G>C (p.Met2398Ile)
n.1076G>C
c.1-12081G>C (n.1-12081G>C)
c.6450G>C (p.Met2150Ile)
c.6996G>C (p.Met2332Ile)
c.6813G>C (p.Met2271Ile)
c.6534G>C (p.Met2178Ile)
c.5577G>C (p.Met1859Ile)
c.5568G>C (p.Met1856Ile)
5g.37052497G=CA1539572332NIPBLc.7194G= (p.Met2398=)
n.1076G=
c.1-12081G= (n.1-12081G=)
c.6450G= (p.Met2150=)
c.6996G= (p.Met2332=)
c.6813G= (p.Met2271=)
c.6534G= (p.Met2178=)
c.5577G= (p.Met1859=)
c.5568G= (p.Met1856=)
5g.37052497G>TCA359511724NIPBLc.7194G>T (p.Met2398Ile)
n.1076G>T
c.1-12081G>T (n.1-12081G>T)
c.6450G>T (p.Met2150Ile)
c.6996G>T (p.Met2332Ile)
c.6813G>T (p.Met2271Ile)
c.6534G>T (p.Met2178Ile)
c.5577G>T (p.Met1859Ile)
c.5568G>T (p.Met1856Ile)
5g.37052498A>CCA359511726NIPBLc.7195A>C (p.Ile2399Leu)
n.1077A>C
c.1-12080A>C (n.1-12080A>C)
c.6451A>C (p.Ile2151Leu)
c.6997A>C (p.Ile2333Leu)
c.6814A>C (p.Ile2272Leu)
c.6535A>C (p.Ile2179Leu)
c.5578A>C (p.Ile1860Leu)
c.5569A>C (p.Ile1857Leu)
5g.37052498A>GCA359511729NIPBLc.7195A>G (p.Ile2399Val)
n.1077A>G
c.1-12080A>G (n.1-12080A>G)
c.6451A>G (p.Ile2151Val)
c.6997A>G (p.Ile2333Val)
c.6814A>G (p.Ile2272Val)
c.6535A>G (p.Ile2179Val)
c.5578A>G (p.Ile1860Val)
c.5569A>G (p.Ile1857Val)
5g.37052498A>TCA359511728NIPBLc.7195A>T (p.Ile2399Phe)
n.1077A>T
c.1-12080A>T (n.1-12080A>T)
c.6451A>T (p.Ile2151Phe)
c.6997A>T (p.Ile2333Phe)
c.6814A>T (p.Ile2272Phe)
c.6535A>T (p.Ile2179Phe)
c.5578A>T (p.Ile1860Phe)
c.5569A>T (p.Ile1857Phe)
5g.37052499T>ACA359511731NIPBLc.7196T>A (p.Ile2399Asn)
n.1078T>A
c.1-12079T>A (n.1-12079T>A)
c.6452T>A (p.Ile2151Asn)
c.6998T>A (p.Ile2333Asn)
c.6815T>A (p.Ile2272Asn)
c.6536T>A (p.Ile2179Asn)
c.5579T>A (p.Ile1860Asn)
c.5570T>A (p.Ile1857Asn)
5g.37052499T>CCA359511734NIPBLc.7196T>C (p.Ile2399Thr)
n.1078T>C
c.1-12079T>C (n.1-12079T>C)
c.6452T>C (p.Ile2151Thr)
c.6998T>C (p.Ile2333Thr)
c.6815T>C (p.Ile2272Thr)
c.6536T>C (p.Ile2179Thr)
c.5579T>C (p.Ile1860Thr)
c.5570T>C (p.Ile1857Thr)
5g.37052499T>GCA359511741NIPBLc.7196T>G (p.Ile2399Ser)
n.1078T>G
c.1-12079T>G (n.1-12079T>G)
c.6452T>G (p.Ile2151Ser)
c.6998T>G (p.Ile2333Ser)
c.6815T>G (p.Ile2272Ser)
c.6536T>G (p.Ile2179Ser)
c.5579T>G (p.Ile1860Ser)
c.5570T>G (p.Ile1857Ser)
5g.37052499_37052500delinsTCCA1539572334NIPBLc.7196_7197delinsTC (p.Ile2399=)
n.1078_1079delinsTC
c.1-12079_1-12078delinsTC (n.1-12079_1-12078delinsTC)
c.6452_6453delinsTC (p.Ile2151=)
c.6998_6999delinsTC (p.Ile2333=)
c.6815_6816delinsTC (p.Ile2272=)
c.6536_6537delinsTC (p.Ile2179=)
c.5579_5580delinsTC (p.Ile1860=)
c.5570_5571delinsTC (p.Ile1857=)
5g.37052500C>ACA443911907NIPBLc.7197C>A (p.Ile2399=)
n.1079C>A
c.1-12078C>A (n.1-12078C>A)
c.6453C>A (p.Ile2151=)
c.6999C>A (p.Ile2333=)
c.6816C>A (p.Ile2272=)
c.6537C>A (p.Ile2179=)
c.5580C>A (p.Ile1860=)
c.5571C>A (p.Ile1857=)
5g.37052500C>GCA359511743NIPBLc.7197C>G (p.Ile2399Met)
n.1079C>G
c.1-12078C>G (n.1-12078C>G)
c.6453C>G (p.Ile2151Met)
c.6999C>G (p.Ile2333Met)
c.6816C>G (p.Ile2272Met)
c.6537C>G (p.Ile2179Met)
c.5580C>G (p.Ile1860Met)
c.5571C>G (p.Ile1857Met)
5g.37052500C>TCA443911911NIPBLc.7197C>T (p.Ile2399=)
n.1079C>T
c.1-12078C>T (n.1-12078C>T)
c.6453C>T (p.Ile2151=)
c.6999C>T (p.Ile2333=)
c.6816C>T (p.Ile2272=)
c.6537C>T (p.Ile2179=)
c.5580C>T (p.Ile1860=)
c.5571C>T (p.Ile1857=)
5g.37052501delCA272294NIPBLc.7198del (p.Arg2400ValfsTer26)
c.7198del (p.Arg2400ValfsTer25)
n.1080del
c.1-12077del (n.1-12077del)
c.6454del (p.Arg2152ValfsTer26)
c.7000del (p.Arg2334ValfsTer26)
c.6817del (p.Arg2273ValfsTer26)
c.7198del (p.Arg2400ValfsTer?)
c.6538del (p.Arg2180ValfsTer26)
c.5581del (p.Arg1861ValfsTer26)
c.5572del (p.Arg1858ValfsTer26)
 ClinVar dbSNP
5g.37052501C>ACA359511752NIPBLc.7198C>A (p.Arg2400Ser)
n.1080C>A
c.1-12077C>A (n.1-12077C>A)
c.6454C>A (p.Arg2152Ser)
c.7000C>A (p.Arg2334Ser)
c.6817C>A (p.Arg2273Ser)
c.6538C>A (p.Arg2180Ser)
c.5581C>A (p.Arg1861Ser)
c.5572C>A (p.Arg1858Ser)
5g.37052501C>GCA359511748NIPBLc.7198C>G (p.Arg2400Gly)
n.1080C>G
c.1-12077C>G (n.1-12077C>G)
c.6454C>G (p.Arg2152Gly)
c.7000C>G (p.Arg2334Gly)
c.6817C>G (p.Arg2273Gly)
c.6538C>G (p.Arg2180Gly)
c.5581C>G (p.Arg1861Gly)
c.5572C>G (p.Arg1858Gly)
5g.37052501C>TCA359511753NIPBLc.7198C>T (p.Arg2400Cys)
n.1080C>T
c.1-12077C>T (n.1-12077C>T)
c.6454C>T (p.Arg2152Cys)
c.7000C>T (p.Arg2334Cys)
c.6817C>T (p.Arg2273Cys)
c.6538C>T (p.Arg2180Cys)
c.5581C>T (p.Arg1861Cys)
c.5572C>T (p.Arg1858Cys)
 ClinVar gnomAD v4
5g.37052502delCA2553303923NIPBLc.7199del (p.Arg2400LeufsTer26)
c.7199del (p.Arg2400LeufsTer25)
n.1081del
c.1-12076del (n.1-12076del)
c.6455del (p.Arg2152LeufsTer26)
c.7001del (p.Arg2334LeufsTer26)
c.6818del (p.Arg2273LeufsTer26)
c.7199del (p.Arg2400LeufsTer?)
c.6539del (p.Arg2180LeufsTer26)
c.5582del (p.Arg1861LeufsTer26)
c.5573del (p.Arg1858LeufsTer26)
5g.37052502G>ACA3237154NIPBLc.7199G>A (p.Arg2400His)
n.1081G>A
c.1-12076G>A (n.1-12076G>A)
c.6455G>A (p.Arg2152His)
c.7001G>A (p.Arg2334His)
c.6818G>A (p.Arg2273His)
c.6539G>A (p.Arg2180His)
c.5582G>A (p.Arg1861His)
c.5573G>A (p.Arg1858His)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37052502G>CCA359511754NIPBLc.7199G>C (p.Arg2400Pro)
n.1081G>C
c.1-12076G>C (n.1-12076G>C)
c.6455G>C (p.Arg2152Pro)
c.7001G>C (p.Arg2334Pro)
c.6818G>C (p.Arg2273Pro)
c.6539G>C (p.Arg2180Pro)
c.5582G>C (p.Arg1861Pro)
c.5573G>C (p.Arg1858Pro)
 ClinVar dbSNP
5g.37052502G=CA1539572340NIPBLc.7199G= (p.Arg2400=)
n.1081G=
c.1-12076G= (n.1-12076G=)
c.6455G= (p.Arg2152=)
c.7001G= (p.Arg2334=)
c.6818G= (p.Arg2273=)
c.6539G= (p.Arg2180=)
c.5582G= (p.Arg1861=)
c.5573G= (p.Arg1858=)
5g.37052502G>TCA359511756NIPBLc.7199G>T (p.Arg2400Leu)
n.1081G>T
c.1-12076G>T (n.1-12076G>T)
c.6455G>T (p.Arg2152Leu)
c.7001G>T (p.Arg2334Leu)
c.6818G>T (p.Arg2273Leu)
c.6539G>T (p.Arg2180Leu)
c.5582G>T (p.Arg1861Leu)
c.5573G>T (p.Arg1858Leu)
5g.37052503T>ACA443911925NIPBLc.7200T>A (p.Arg2400=)
n.1082T>A
c.1-12075T>A (n.1-12075T>A)
c.6456T>A (p.Arg2152=)
c.7002T>A (p.Arg2334=)
c.6819T>A (p.Arg2273=)
c.6540T>A (p.Arg2180=)
c.5583T>A (p.Arg1861=)
c.5574T>A (p.Arg1858=)
5g.37052503T>CCA443911926NIPBLc.7200T>C (p.Arg2400=)
n.1082T>C
c.1-12075T>C (n.1-12075T>C)
c.6456T>C (p.Arg2152=)
c.7002T>C (p.Arg2334=)
c.6819T>C (p.Arg2273=)
c.6540T>C (p.Arg2180=)
c.5583T>C (p.Arg1861=)
c.5574T>C (p.Arg1858=)
5g.37052503T>GCA443911928NIPBLc.7200T>G (p.Arg2400=)
n.1082T>G
c.1-12075T>G (n.1-12075T>G)
c.6456T>G (p.Arg2152=)
c.7002T>G (p.Arg2334=)
c.6819T>G (p.Arg2273=)
c.6540T>G (p.Arg2180=)
c.5583T>G (p.Arg1861=)
c.5574T>G (p.Arg1858=)
5g.37052504G>ACA359511760NIPBLc.7201G>A (p.Gly2401Arg)
n.1083G>A
c.1-12074G>A (n.1-12074G>A)
c.6457G>A (p.Gly2153Arg)
c.7003G>A (p.Gly2335Arg)
c.6820G>A (p.Gly2274Arg)
c.6541G>A (p.Gly2181Arg)
c.5584G>A (p.Gly1862Arg)
c.5575G>A (p.Gly1859Arg)
5g.37052504G>CCA359511761NIPBLc.7201G>C (p.Gly2401Arg)
n.1083G>C
c.1-12074G>C (n.1-12074G>C)
c.6457G>C (p.Gly2153Arg)
c.7003G>C (p.Gly2335Arg)
c.6820G>C (p.Gly2274Arg)
c.6541G>C (p.Gly2181Arg)
c.5584G>C (p.Gly1862Arg)
c.5575G>C (p.Gly1859Arg)
5g.37052504G>TCA359511762NIPBLc.7201G>T (p.Gly2401Ter)
n.1083G>T
c.1-12074G>T (n.1-12074G>T)
c.6457G>T (p.Gly2153Ter)
c.7003G>T (p.Gly2335Ter)
c.6820G>T (p.Gly2274Ter)
c.6541G>T (p.Gly2181Ter)
c.5584G>T (p.Gly1862Ter)
c.5575G>T (p.Gly1859Ter)
 COSMIC COSMIC
5g.37052505G>ACA117051549NIPBLc.7202G>A (p.Gly2401Glu)
n.1084G>A
c.1-12073G>A (n.1-12073G>A)
c.6458G>A (p.Gly2153Glu)
c.7004G>A (p.Gly2335Glu)
c.6821G>A (p.Gly2274Glu)
c.6542G>A (p.Gly2181Glu)
c.5585G>A (p.Gly1862Glu)
c.5576G>A (p.Gly1859Glu)
 dbSNP
5g.37052505G>CCA359511765NIPBLc.7202G>C (p.Gly2401Ala)
n.1084G>C
c.1-12073G>C (n.1-12073G>C)
c.6458G>C (p.Gly2153Ala)
c.7004G>C (p.Gly2335Ala)
c.6821G>C (p.Gly2274Ala)
c.6542G>C (p.Gly2181Ala)
c.5585G>C (p.Gly1862Ala)
c.5576G>C (p.Gly1859Ala)
5g.37052505G=CA1539572342NIPBLc.7202G= (p.Gly2401=)
n.1084G=
c.1-12073G= (n.1-12073G=)
c.6458G= (p.Gly2153=)
c.7004G= (p.Gly2335=)
c.6821G= (p.Gly2274=)
c.6542G= (p.Gly2181=)
c.5585G= (p.Gly1862=)
c.5576G= (p.Gly1859=)
5g.37052505G>TCA359511767NIPBLc.7202G>T (p.Gly2401Val)
n.1084G>T
c.1-12073G>T (n.1-12073G>T)
c.6458G>T (p.Gly2153Val)
c.7004G>T (p.Gly2335Val)
c.6821G>T (p.Gly2274Val)
c.6542G>T (p.Gly2181Val)
c.5585G>T (p.Gly1862Val)
c.5576G>T (p.Gly1859Val)
5g.37052506A>CCA443911939NIPBLc.7203A>C (p.Gly2401=)
n.1085A>C
c.1-12072A>C (n.1-12072A>C)
c.6459A>C (p.Gly2153=)
c.7005A>C (p.Gly2335=)
c.6822A>C (p.Gly2274=)
c.6543A>C (p.Gly2181=)
c.5586A>C (p.Gly1862=)
c.5577A>C (p.Gly1859=)
5g.37052506A>GCA443911942NIPBLc.7203A>G (p.Gly2401=)
n.1085A>G
c.1-12072A>G (n.1-12072A>G)
c.6459A>G (p.Gly2153=)
c.7005A>G (p.Gly2335=)
c.6822A>G (p.Gly2274=)
c.6543A>G (p.Gly2181=)
c.5586A>G (p.Gly1862=)
c.5577A>G (p.Gly1859=)
5g.37052506A>TCA443911944NIPBLc.7203A>T (p.Gly2401=)
n.1085A>T
c.1-12072A>T (n.1-12072A>T)
c.6459A>T (p.Gly2153=)
c.7005A>T (p.Gly2335=)
c.6822A>T (p.Gly2274=)
c.6543A>T (p.Gly2181=)
c.5586A>T (p.Gly1862=)
c.5577A>T (p.Gly1859=)
5g.37052506_37052510delCA2566938241NIPBLc.7203_7207del (p.Asn2402ProfsTer15)
n.1085_1089del
c.1-12072_1-12068del (n.1-12072_1-12068del)
c.6459_6463del (p.Asn2154ProfsTer15)
c.7005_7009del (p.Asn2336ProfsTer15)
c.6822_6826del (p.Asn2275ProfsTer15)
c.6543_6547del (p.Asn2182ProfsTer15)
c.5586_5590del (p.Asn1863ProfsTer15)
c.5577_5581del (p.Asn1860ProfsTer15)
5g.37052507A=CA1539572346NIPBLc.7204A= (p.Asn2402=)
n.1086A=
c.1-12071A= (n.1-12071A=)
c.6460A= (p.Asn2154=)
c.7006A= (p.Asn2336=)
c.6823A= (p.Asn2275=)
c.6544A= (p.Asn2182=)
c.5587A= (p.Asn1863=)
c.5578A= (p.Asn1860=)
5g.37052507A>CCA117051555NIPBLc.7204A>C (p.Asn2402His)
n.1086A>C
c.1-12071A>C (n.1-12071A>C)
c.6460A>C (p.Asn2154His)
c.7006A>C (p.Asn2336His)
c.6823A>C (p.Asn2275His)
c.6544A>C (p.Asn2182His)
c.5587A>C (p.Asn1863His)
c.5578A>C (p.Asn1860His)
 dbSNP gnomAD v4
5g.37052507A>GCA359511768NIPBLc.7204A>G (p.Asn2402Asp)
n.1086A>G
c.1-12071A>G (n.1-12071A>G)
c.6460A>G (p.Asn2154Asp)
c.7006A>G (p.Asn2336Asp)
c.6823A>G (p.Asn2275Asp)
c.6544A>G (p.Asn2182Asp)
c.5587A>G (p.Asn1863Asp)
c.5578A>G (p.Asn1860Asp)
5g.37052507A>TCA359511771NIPBLc.7204A>T (p.Asn2402Tyr)
n.1086A>T
c.1-12071A>T (n.1-12071A>T)
c.6460A>T (p.Asn2154Tyr)
c.7006A>T (p.Asn2336Tyr)
c.6823A>T (p.Asn2275Tyr)
c.6544A>T (p.Asn2182Tyr)
c.5587A>T (p.Asn1863Tyr)
c.5578A>T (p.Asn1860Tyr)
5g.37052508A=CA1539572352NIPBLc.7205A= (p.Asn2402=)
n.1087A=
c.1-12070A= (n.1-12070A=)
c.6461A= (p.Asn2154=)
c.7007A= (p.Asn2336=)
c.6824A= (p.Asn2275=)
c.6545A= (p.Asn2182=)
c.5588A= (p.Asn1863=)
c.5579A= (p.Asn1860=)
5g.37052508A>CCA359511780NIPBLc.7205A>C (p.Asn2402Thr)
n.1087A>C
c.1-12070A>C (n.1-12070A>C)
c.6461A>C (p.Asn2154Thr)
c.7007A>C (p.Asn2336Thr)
c.6824A>C (p.Asn2275Thr)
c.6545A>C (p.Asn2182Thr)
c.5588A>C (p.Asn1863Thr)
c.5579A>C (p.Asn1860Thr)
 dbSNP
5g.37052508A>GCA359511779NIPBLc.7205A>G (p.Asn2402Ser)
n.1087A>G
c.1-12070A>G (n.1-12070A>G)
c.6461A>G (p.Asn2154Ser)
c.7007A>G (p.Asn2336Ser)
c.6824A>G (p.Asn2275Ser)
c.6545A>G (p.Asn2182Ser)
c.5588A>G (p.Asn1863Ser)
c.5579A>G (p.Asn1860Ser)
 gnomAD v4
5g.37052508A>TCA359511777NIPBLc.7205A>T (p.Asn2402Ile)
n.1087A>T
c.1-12070A>T (n.1-12070A>T)
c.6461A>T (p.Asn2154Ile)
c.7007A>T (p.Asn2336Ile)
c.6824A>T (p.Asn2275Ile)
c.6545A>T (p.Asn2182Ile)
c.5588A>T (p.Asn1863Ile)
c.5579A>T (p.Asn1860Ile)
5g.37052509C>ACA359511788NIPBLc.7206C>A (p.Asn2402Lys)
n.1088C>A
c.1-12069C>A (n.1-12069C>A)
c.6462C>A (p.Asn2154Lys)
c.7008C>A (p.Asn2336Lys)
c.6825C>A (p.Asn2275Lys)
c.6546C>A (p.Asn2182Lys)
c.5589C>A (p.Asn1863Lys)
c.5580C>A (p.Asn1860Lys)
5g.37052509C>GCA359511790NIPBLc.7206C>G (p.Asn2402Lys)
n.1088C>G
c.1-12069C>G (n.1-12069C>G)
c.6462C>G (p.Asn2154Lys)
c.7008C>G (p.Asn2336Lys)
c.6825C>G (p.Asn2275Lys)
c.6546C>G (p.Asn2182Lys)
c.5589C>G (p.Asn1863Lys)
c.5580C>G (p.Asn1860Lys)
5g.37052509C>TCA443911963NIPBLc.7206C>T (p.Asn2402=)
n.1088C>T
c.1-12069C>T (n.1-12069C>T)
c.6462C>T (p.Asn2154=)
c.7008C>T (p.Asn2336=)
c.6825C>T (p.Asn2275=)
c.6546C>T (p.Asn2182=)
c.5589C>T (p.Asn1863=)
c.5580C>T (p.Asn1860=)
5g.37052510dupCA117051557NIPBLc.7207dup (p.Arg2403ProfsTer16)
n.1089dup
c.1-12068dup (n.1-12068dup)
c.6463dup (p.Arg2155ProfsTer16)
c.7009dup (p.Arg2337ProfsTer16)
c.6826dup (p.Arg2276ProfsTer16)
c.6547dup (p.Arg2183ProfsTer16)
c.5590dup (p.Arg1864ProfsTer16)
c.5581dup (p.Arg1861ProfsTer16)
 dbSNP
5g.37052510C>ACA359511792NIPBLc.7207C>A (p.Arg2403Ser)
n.1089C>A
c.1-12068C>A (n.1-12068C>A)
c.6463C>A (p.Arg2155Ser)
c.7009C>A (p.Arg2337Ser)
c.6826C>A (p.Arg2276Ser)
c.6547C>A (p.Arg2183Ser)
c.5590C>A (p.Arg1864Ser)
c.5581C>A (p.Arg1861Ser)
5g.37052510C>GCA359511794NIPBLc.7207C>G (p.Arg2403Gly)
n.1089C>G
c.1-12068C>G (n.1-12068C>G)
c.6463C>G (p.Arg2155Gly)
c.7009C>G (p.Arg2337Gly)
c.6826C>G (p.Arg2276Gly)
c.6547C>G (p.Arg2183Gly)
c.5590C>G (p.Arg1864Gly)
c.5581C>G (p.Arg1861Gly)
5g.37052510C>TCA359511796NIPBLc.7207C>T (p.Arg2403Cys)
n.1089C>T
c.1-12068C>T (n.1-12068C>T)
c.6463C>T (p.Arg2155Cys)
c.7009C>T (p.Arg2337Cys)
c.6826C>T (p.Arg2276Cys)
c.6547C>T (p.Arg2183Cys)
c.5590C>T (p.Arg1864Cys)
c.5581C>T (p.Arg1861Cys)
 gnomAD v4
5g.37052511G>ACA359511798NIPBLc.7208G>A (p.Arg2403His)
n.1090G>A
c.1-12067G>A (n.1-12067G>A)
c.6464G>A (p.Arg2155His)
c.7010G>A (p.Arg2337His)
c.6827G>A (p.Arg2276His)
c.6548G>A (p.Arg2183His)
c.5591G>A (p.Arg1864His)
c.5582G>A (p.Arg1861His)
 ClinVar gnomAD v4 COSMIC COSMIC
5g.37052511G>CCA359511800NIPBLc.7208G>C (p.Arg2403Pro)
n.1090G>C
c.1-12067G>C (n.1-12067G>C)
c.6464G>C (p.Arg2155Pro)
c.7010G>C (p.Arg2337Pro)
c.6827G>C (p.Arg2276Pro)
c.6548G>C (p.Arg2183Pro)
c.5591G>C (p.Arg1864Pro)
c.5582G>C (p.Arg1861Pro)
5g.37052511G>TCA359511801NIPBLc.7208G>T (p.Arg2403Leu)
n.1090G>T
c.1-12067G>T (n.1-12067G>T)
c.6464G>T (p.Arg2155Leu)
c.7010G>T (p.Arg2337Leu)
c.6827G>T (p.Arg2276Leu)
c.6548G>T (p.Arg2183Leu)
c.5591G>T (p.Arg1864Leu)
c.5582G>T (p.Arg1861Leu)
5g.37052512C>ACA443911976NIPBLc.7209C>A (p.Arg2403=)
n.1091C>A
c.1-12066C>A (n.1-12066C>A)
c.6465C>A (p.Arg2155=)
c.7011C>A (p.Arg2337=)
c.6828C>A (p.Arg2276=)
c.6549C>A (p.Arg2183=)
c.5592C>A (p.Arg1864=)
c.5583C>A (p.Arg1861=)
5g.37052512C=CA1539572359NIPBLc.7209C= (p.Arg2403=)
n.1091C=
c.1-12066C= (n.1-12066C=)
c.6465C= (p.Arg2155=)
c.7011C= (p.Arg2337=)
c.6828C= (p.Arg2276=)
c.6549C= (p.Arg2183=)
c.5592C= (p.Arg1864=)
c.5583C= (p.Arg1861=)
5g.37052512C>GCA443911977NIPBLc.7209C>G (p.Arg2403=)
n.1091C>G
c.1-12066C>G (n.1-12066C>G)
c.6465C>G (p.Arg2155=)
c.7011C>G (p.Arg2337=)
c.6828C>G (p.Arg2276=)
c.6549C>G (p.Arg2183=)
c.5592C>G (p.Arg1864=)
c.5583C>G (p.Arg1861=)
 dbSNP gnomAD v2 gnomAD v4
5g.37052512C>TCA443911979NIPBLc.7209C>T (p.Arg2403=)
n.1091C>T
c.1-12066C>T (n.1-12066C>T)
c.6465C>T (p.Arg2155=)
c.7011C>T (p.Arg2337=)
c.6828C>T (p.Arg2276=)
c.6549C>T (p.Arg2183=)
c.5592C>T (p.Arg1864=)
c.5583C>T (p.Arg1861=)
5g.37052513delCA2695204434NIPBLc.7210del (p.Gln2404AsnfsTer22)
c.7210del (p.Gln2404AsnfsTer21)
n.1092del
c.1-12065del (n.1-12065del)
c.6466del (p.Gln2156AsnfsTer22)
c.7012del (p.Gln2338AsnfsTer22)
c.6829del (p.Gln2277AsnfsTer22)
c.7210del (p.Gln2404AsnfsTer?)
c.6550del (p.Gln2184AsnfsTer22)
c.5593del (p.Gln1865AsnfsTer22)
c.5584del (p.Gln1862AsnfsTer22)
5g.37052513C>ACA359511804NIPBLc.7210C>A (p.Gln2404Lys)
n.1092C>A
c.1-12065C>A (n.1-12065C>A)
c.6466C>A (p.Gln2156Lys)
c.7012C>A (p.Gln2338Lys)
c.6829C>A (p.Gln2277Lys)
c.6550C>A (p.Gln2184Lys)
c.5593C>A (p.Gln1865Lys)
c.5584C>A (p.Gln1862Lys)
5g.37052513C>GCA359511806NIPBLc.7210C>G (p.Gln2404Glu)
n.1092C>G
c.1-12065C>G (n.1-12065C>G)
c.6466C>G (p.Gln2156Glu)
c.7012C>G (p.Gln2338Glu)
c.6829C>G (p.Gln2277Glu)
c.6550C>G (p.Gln2184Glu)
c.5593C>G (p.Gln1865Glu)
c.5584C>G (p.Gln1862Glu)
5g.37052513C>TCA359511808NIPBLc.7210C>T (p.Gln2404Ter)
n.1092C>T
c.1-12065C>T (n.1-12065C>T)
c.6466C>T (p.Gln2156Ter)
c.7012C>T (p.Gln2338Ter)
c.6829C>T (p.Gln2277Ter)
c.6550C>T (p.Gln2184Ter)
c.5593C>T (p.Gln1865Ter)
c.5584C>T (p.Gln1862Ter)
5g.37052514A=CA1539572362NIPBLc.7211A= (p.Gln2404=)
n.1093A=
c.1-12064A= (n.1-12064A=)
c.6467A= (p.Gln2156=)
c.7013A= (p.Gln2338=)
c.6830A= (p.Gln2277=)
c.6551A= (p.Gln2184=)
c.5594A= (p.Gln1865=)
c.5585A= (p.Gln1862=)
5g.37052514A>CCA359511813NIPBLc.7211A>C (p.Gln2404Pro)
n.1093A>C
c.1-12064A>C (n.1-12064A>C)
c.6467A>C (p.Gln2156Pro)
c.7013A>C (p.Gln2338Pro)
c.6830A>C (p.Gln2277Pro)
c.6551A>C (p.Gln2184Pro)
c.5594A>C (p.Gln1865Pro)
c.5585A>C (p.Gln1862Pro)
5g.37052514A>GCA359511820NIPBLc.7211A>G (p.Gln2404Arg)
n.1093A>G
c.1-12064A>G (n.1-12064A>G)
c.6467A>G (p.Gln2156Arg)
c.7013A>G (p.Gln2338Arg)
c.6830A>G (p.Gln2277Arg)
c.6551A>G (p.Gln2184Arg)
c.5594A>G (p.Gln1865Arg)
c.5585A>G (p.Gln1862Arg)
 dbSNP
5g.37052514A>TCA359511810NIPBLc.7211A>T (p.Gln2404Leu)
n.1093A>T
c.1-12064A>T (n.1-12064A>T)
c.6467A>T (p.Gln2156Leu)
c.7013A>T (p.Gln2338Leu)
c.6830A>T (p.Gln2277Leu)
c.6551A>T (p.Gln2184Leu)
c.5594A>T (p.Gln1865Leu)
c.5585A>T (p.Gln1862Leu)
5g.37052515delCA2514577429NIPBLc.7212del (p.Gln2404HisfsTer22)
c.7212del (p.Gln2404HisfsTer21)
n.1094del
c.1-12063del (n.1-12063del)
c.6468del (p.Gln2156HisfsTer22)
c.7014del (p.Gln2338HisfsTer22)
c.6831del (p.Gln2277HisfsTer22)
c.7212del (p.Gln2404HisfsTer?)
c.6552del (p.Gln2184HisfsTer22)
c.5595del (p.Gln1865HisfsTer22)
c.5586del (p.Gln1862HisfsTer22)
5g.37052515A=CA1539572364NIPBLc.7212A= (p.Gln2404=)
n.1094A=
c.1-12063A= (n.1-12063A=)
c.6468A= (p.Gln2156=)
c.7014A= (p.Gln2338=)
c.6831A= (p.Gln2277=)
c.6552A= (p.Gln2184=)
c.5595A= (p.Gln1865=)
c.5586A= (p.Gln1862=)
5g.37052515A>CCA359511824NIPBLc.7212A>C (p.Gln2404His)
n.1094A>C
c.1-12063A>C (n.1-12063A>C)
c.6468A>C (p.Gln2156His)
c.7014A>C (p.Gln2338His)
c.6831A>C (p.Gln2277His)
c.6552A>C (p.Gln2184His)
c.5595A>C (p.Gln1865His)
c.5586A>C (p.Gln1862His)
5g.37052515A>GCA3237155NIPBLc.7212A>G (p.Gln2404=)
n.1094A>G
c.1-12063A>G (n.1-12063A>G)
c.6468A>G (p.Gln2156=)
c.7014A>G (p.Gln2338=)
c.6831A>G (p.Gln2277=)
c.6552A>G (p.Gln2184=)
c.5595A>G (p.Gln1865=)
c.5586A>G (p.Gln1862=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37052515A>TCA359511829NIPBLc.7212A>T (p.Gln2404His)
n.1094A>T
c.1-12063A>T (n.1-12063A>T)
c.6468A>T (p.Gln2156His)
c.7014A>T (p.Gln2338His)
c.6831A>T (p.Gln2277His)
c.6552A>T (p.Gln2184His)
c.5595A>T (p.Gln1865His)
c.5586A>T (p.Gln1862His)
5g.37052516C>ACA359511831NIPBLc.7213C>A (p.His2405Asn)
n.1095C>A
c.1-12062C>A (n.1-12062C>A)
c.6469C>A (p.His2157Asn)
c.7015C>A (p.His2339Asn)
c.6832C>A (p.His2278Asn)
c.6553C>A (p.His2185Asn)
c.5596C>A (p.His1866Asn)
c.5587C>A (p.His1863Asn)
5g.37052516C>GCA359511832NIPBLc.7213C>G (p.His2405Asp)
n.1095C>G
c.1-12062C>G (n.1-12062C>G)
c.6469C>G (p.His2157Asp)
c.7015C>G (p.His2339Asp)
c.6832C>G (p.His2278Asp)
c.6553C>G (p.His2185Asp)
c.5596C>G (p.His1866Asp)
c.5587C>G (p.His1863Asp)
5g.37052516C>TCA359511839NIPBLc.7213C>T (p.His2405Tyr)
n.1095C>T
c.1-12062C>T (n.1-12062C>T)
c.6469C>T (p.His2157Tyr)
c.7015C>T (p.His2339Tyr)
c.6832C>T (p.His2278Tyr)
c.6553C>T (p.His2185Tyr)
c.5596C>T (p.His1866Tyr)
c.5587C>T (p.His1863Tyr)
5g.37052517A>CCA359511844NIPBLc.7214A>C (p.His2405Pro)
n.1096A>C
c.1-12061A>C (n.1-12061A>C)
c.6470A>C (p.His2157Pro)
c.7016A>C (p.His2339Pro)
c.6833A>C (p.His2278Pro)
c.6554A>C (p.His2185Pro)
c.5597A>C (p.His1866Pro)
c.5588A>C (p.His1863Pro)
5g.37052517A>GCA359511846NIPBLc.7214A>G (p.His2405Arg)
n.1096A>G
c.1-12061A>G (n.1-12061A>G)
c.6470A>G (p.His2157Arg)
c.7016A>G (p.His2339Arg)
c.6833A>G (p.His2278Arg)
c.6554A>G (p.His2185Arg)
c.5597A>G (p.His1866Arg)
c.5588A>G (p.His1863Arg)
5g.37052517A>TCA359511848NIPBLc.7214A>T (p.His2405Leu)
n.1096A>T
c.1-12061A>T (n.1-12061A>T)
c.6470A>T (p.His2157Leu)
c.7016A>T (p.His2339Leu)
c.6833A>T (p.His2278Leu)
c.6554A>T (p.His2185Leu)
c.5597A>T (p.His1866Leu)
c.5588A>T (p.His1863Leu)
5g.37052518C>ACA359511851NIPBLc.7215C>A (p.His2405Gln)
n.1097C>A
c.1-12060C>A (n.1-12060C>A)
c.6471C>A (p.His2157Gln)
c.7017C>A (p.His2339Gln)
c.6834C>A (p.His2278Gln)
c.6555C>A (p.His2185Gln)
c.5598C>A (p.His1866Gln)
c.5589C>A (p.His1863Gln)
5g.37052518C>GCA359511853NIPBLc.7215C>G (p.His2405Gln)
n.1097C>G
c.1-12060C>G (n.1-12060C>G)
c.6471C>G (p.His2157Gln)
c.7017C>G (p.His2339Gln)
c.6834C>G (p.His2278Gln)
c.6555C>G (p.His2185Gln)
c.5598C>G (p.His1866Gln)
c.5589C>G (p.His1863Gln)
5g.37052518C>TCA443912006NIPBLc.7215C>T (p.His2405=)
n.1097C>T
c.1-12060C>T (n.1-12060C>T)
c.6471C>T (p.His2157=)
c.7017C>T (p.His2339=)
c.6834C>T (p.His2278=)
c.6555C>T (p.His2185=)
c.5598C>T (p.His1866=)
c.5589C>T (p.His1863=)
5g.37052518_37052527delCA2510322677NIPBLc.7215_7224del (p.Arg2406PhefsTer17)
c.7215_7224del (p.Arg2406PhefsTer16)
n.1097_1106del
c.1-12060_1-12051del (n.1-12060_1-12051del)
c.6471_6480del (p.Arg2158PhefsTer17)
c.7017_7026del (p.Arg2340PhefsTer17)
c.6834_6843del (p.Arg2279PhefsTer17)
c.7215_7224del (p.Arg2406PhefsTer?)
c.6555_6564del (p.Arg2186PhefsTer17)
c.5598_5607del (p.Arg1867PhefsTer17)
c.5589_5598del (p.Arg1864PhefsTer17)
5g.37052519A>CCA443912011NIPBLc.7216A>C (p.Arg2406=)
n.1098A>C
c.1-12059A>C (n.1-12059A>C)
c.6472A>C (p.Arg2158=)
c.7018A>C (p.Arg2340=)
c.6835A>C (p.Arg2279=)
c.6556A>C (p.Arg2186=)
c.5599A>C (p.Arg1867=)
c.5590A>C (p.Arg1864=)
5g.37052519A>GCA359511856NIPBLc.7216A>G (p.Arg2406Gly)
n.1098A>G
c.1-12059A>G (n.1-12059A>G)
c.6472A>G (p.Arg2158Gly)
c.7018A>G (p.Arg2340Gly)
c.6835A>G (p.Arg2279Gly)
c.6556A>G (p.Arg2186Gly)
c.5599A>G (p.Arg1867Gly)
c.5590A>G (p.Arg1864Gly)
5g.37052519A>TCA359511859NIPBLc.7216A>T (p.Arg2406Ter)
n.1098A>T
c.1-12059A>T (n.1-12059A>T)
c.6472A>T (p.Arg2158Ter)
c.7018A>T (p.Arg2340Ter)
c.6835A>T (p.Arg2279Ter)
c.6556A>T (p.Arg2186Ter)
c.5599A>T (p.Arg1867Ter)
c.5590A>T (p.Arg1864Ter)
5g.37052520G>ACA359511867NIPBLc.7217G>A (p.Arg2406Lys)
n.1099G>A
c.1-12058G>A (n.1-12058G>A)
c.6473G>A (p.Arg2158Lys)
c.7019G>A (p.Arg2340Lys)
c.6836G>A (p.Arg2279Lys)
c.6557G>A (p.Arg2186Lys)
c.5600G>A (p.Arg1867Lys)
c.5591G>A (p.Arg1864Lys)
5g.37052520G>CCA359511864NIPBLc.7217G>C (p.Arg2406Thr)
n.1099G>C
c.1-12058G>C (n.1-12058G>C)
c.6473G>C (p.Arg2158Thr)
c.7019G>C (p.Arg2340Thr)
c.6836G>C (p.Arg2279Thr)
c.6557G>C (p.Arg2186Thr)
c.5600G>C (p.Arg1867Thr)
c.5591G>C (p.Arg1864Thr)
5g.37052520G>TCA359511861NIPBLc.7217G>T (p.Arg2406Ile)
n.1099G>T
c.1-12058G>T (n.1-12058G>T)
c.6473G>T (p.Arg2158Ile)
c.7019G>T (p.Arg2340Ile)
c.6836G>T (p.Arg2279Ile)
c.6557G>T (p.Arg2186Ile)
c.5600G>T (p.Arg1867Ile)
c.5591G>T (p.Arg1864Ile)
5g.37052521A=CA1539572368NIPBLc.7218A= (p.Arg2406=)
n.1100A=
c.1-12057A= (n.1-12057A=)
c.6474A= (p.Arg2158=)
c.7020A= (p.Arg2340=)
c.6837A= (p.Arg2279=)
c.6558A= (p.Arg2186=)
c.5601A= (p.Arg1867=)
c.5592A= (p.Arg1864=)
5g.37052521A>CCA359511874NIPBLc.7218A>C (p.Arg2406Ser)
n.1100A>C
c.1-12057A>C (n.1-12057A>C)
c.6474A>C (p.Arg2158Ser)
c.7020A>C (p.Arg2340Ser)
c.6837A>C (p.Arg2279Ser)
c.6558A>C (p.Arg2186Ser)
c.5601A>C (p.Arg1867Ser)
c.5592A>C (p.Arg1864Ser)
5g.37052521A>GCA443912023NIPBLc.7218A>G (p.Arg2406=)
n.1100A>G
c.1-12057A>G (n.1-12057A>G)
c.6474A>G (p.Arg2158=)
c.7020A>G (p.Arg2340=)
c.6837A>G (p.Arg2279=)
c.6558A>G (p.Arg2186=)
c.5601A>G (p.Arg1867=)
c.5592A>G (p.Arg1864=)
 ClinVar dbSNP
5g.37052521A>TCA359511877NIPBLc.7218A>T (p.Arg2406Ser)
n.1100A>T
c.1-12057A>T (n.1-12057A>T)
c.6474A>T (p.Arg2158Ser)
c.7020A>T (p.Arg2340Ser)
c.6837A>T (p.Arg2279Ser)
c.6558A>T (p.Arg2186Ser)
c.5601A>T (p.Arg1867Ser)
c.5592A>T (p.Arg1864Ser)
5g.37052522C>ACA443912027NIPBLc.7219C>A (p.Arg2407=)
n.1101C>A
c.1-12056C>A (n.1-12056C>A)
c.6475C>A (p.Arg2159=)
c.7021C>A (p.Arg2341=)
c.6838C>A (p.Arg2280=)
c.6559C>A (p.Arg2187=)
c.5602C>A (p.Arg1868=)
c.5593C>A (p.Arg1865=)
5g.37052522C=CA1539572375NIPBLc.7219C= (p.Arg2407=)
n.1101C=
c.1-12056C= (n.1-12056C=)
c.6475C= (p.Arg2159=)
c.7021C= (p.Arg2341=)
c.6838C= (p.Arg2280=)
c.6559C= (p.Arg2187=)
c.5602C= (p.Arg1868=)
c.5593C= (p.Arg1865=)
5g.37052522C>GCA359511880NIPBLc.7219C>G (p.Arg2407Gly)
n.1101C>G
c.1-12056C>G (n.1-12056C>G)
c.6475C>G (p.Arg2159Gly)
c.7021C>G (p.Arg2341Gly)
c.6838C>G (p.Arg2280Gly)
c.6559C>G (p.Arg2187Gly)
c.5602C>G (p.Arg1868Gly)
c.5593C>G (p.Arg1865Gly)
5g.37052522C>TCA224038NIPBLc.7219C>T (p.Arg2407Ter)
n.1101C>T
c.1-12056C>T (n.1-12056C>T)
c.6475C>T (p.Arg2159Ter)
c.7021C>T (p.Arg2341Ter)
c.6838C>T (p.Arg2280Ter)
c.6559C>T (p.Arg2187Ter)
c.5602C>T (p.Arg1868Ter)
c.5593C>T (p.Arg1865Ter)
 ClinVar dbSNP COSMIC COSMIC
5g.37052523G>ACA359511882NIPBLc.7220G>A (p.Arg2407Gln)
n.1102G>A
c.1-12055G>A (n.1-12055G>A)
c.6476G>A (p.Arg2159Gln)
c.7022G>A (p.Arg2341Gln)
c.6839G>A (p.Arg2280Gln)
c.6560G>A (p.Arg2187Gln)
c.5603G>A (p.Arg1868Gln)
c.5594G>A (p.Arg1865Gln)
 ClinVar dbSNP COSMIC COSMIC
5g.37052523G>CCA359511887NIPBLc.7220G>C (p.Arg2407Pro)
n.1102G>C
c.1-12055G>C (n.1-12055G>C)
c.6476G>C (p.Arg2159Pro)
c.7022G>C (p.Arg2341Pro)
c.6839G>C (p.Arg2280Pro)
c.6560G>C (p.Arg2187Pro)
c.5603G>C (p.Arg1868Pro)
c.5594G>C (p.Arg1865Pro)
5g.37052523G=CA1539572382NIPBLc.7220G= (p.Arg2407=)
n.1102G=
c.1-12055G= (n.1-12055G=)
c.6476G= (p.Arg2159=)
c.7022G= (p.Arg2341=)
c.6839G= (p.Arg2280=)
c.6560G= (p.Arg2187=)
c.5603G= (p.Arg1868=)
c.5594G= (p.Arg1865=)
5g.37052523G>TCA359511892NIPBLc.7220G>T (p.Arg2407Leu)
n.1102G>T
c.1-12055G>T (n.1-12055G>T)
c.6476G>T (p.Arg2159Leu)
c.7022G>T (p.Arg2341Leu)
c.6839G>T (p.Arg2280Leu)
c.6560G>T (p.Arg2187Leu)
c.5603G>T (p.Arg1868Leu)
c.5594G>T (p.Arg1865Leu)
5g.37052524A=CA1539572385NIPBLc.7221A= (p.Arg2407=)
n.1103A=
c.1-12054A= (n.1-12054A=)
c.6477A= (p.Arg2159=)
c.7023A= (p.Arg2341=)
c.6840A= (p.Arg2280=)
c.6561A= (p.Arg2187=)
c.5604A= (p.Arg1868=)
c.5595A= (p.Arg1865=)
5g.37052524A>CCA443912038NIPBLc.7221A>C (p.Arg2407=)
n.1103A>C
c.1-12054A>C (n.1-12054A>C)
c.6477A>C (p.Arg2159=)
c.7023A>C (p.Arg2341=)
c.6840A>C (p.Arg2280=)
c.6561A>C (p.Arg2187=)
c.5604A>C (p.Arg1868=)
c.5595A>C (p.Arg1865=)
 dbSNP
5g.37052524A>GCA443912040NIPBLc.7221A>G (p.Arg2407=)
n.1103A>G
c.1-12054A>G (n.1-12054A>G)
c.6477A>G (p.Arg2159=)
c.7023A>G (p.Arg2341=)
c.6840A>G (p.Arg2280=)
c.6561A>G (p.Arg2187=)
c.5604A>G (p.Arg1868=)
c.5595A>G (p.Arg1865=)
5g.37052524A>TCA443912042NIPBLc.7221A>T (p.Arg2407=)
n.1103A>T
c.1-12054A>T (n.1-12054A>T)
c.6477A>T (p.Arg2159=)
c.7023A>T (p.Arg2341=)
c.6840A>T (p.Arg2280=)
c.6561A>T (p.Arg2187=)
c.5604A>T (p.Arg1868=)
c.5595A>T (p.Arg1865=)
5g.37052525G>ACA359511894NIPBLc.7222G>A (p.Ala2408Thr)
n.1104G>A
c.1-12053G>A (n.1-12053G>A)
c.6478G>A (p.Ala2160Thr)
c.7024G>A (p.Ala2342Thr)
c.6841G>A (p.Ala2281Thr)
c.6562G>A (p.Ala2188Thr)
c.5605G>A (p.Ala1869Thr)
c.5596G>A (p.Ala1866Thr)
5g.37052525G>CCA359511896NIPBLc.7222G>C (p.Ala2408Pro)
n.1104G>C
c.1-12053G>C (n.1-12053G>C)
c.6478G>C (p.Ala2160Pro)
c.7024G>C (p.Ala2342Pro)
c.6841G>C (p.Ala2281Pro)
c.6562G>C (p.Ala2188Pro)
c.5605G>C (p.Ala1869Pro)
c.5596G>C (p.Ala1866Pro)
5g.37052525G>TCA359511898NIPBLc.7222G>T (p.Ala2408Ser)
n.1104G>T
c.1-12053G>T (n.1-12053G>T)
c.6478G>T (p.Ala2160Ser)
c.7024G>T (p.Ala2342Ser)
c.6841G>T (p.Ala2281Ser)
c.6562G>T (p.Ala2188Ser)
c.5605G>T (p.Ala1869Ser)
c.5596G>T (p.Ala1866Ser)
5g.37052526C>ACA359511900NIPBLc.7223C>A (p.Ala2408Asp)
n.1105C>A
c.1-12052C>A (n.1-12052C>A)
c.6479C>A (p.Ala2160Asp)
c.7025C>A (p.Ala2342Asp)
c.6842C>A (p.Ala2281Asp)
c.6563C>A (p.Ala2188Asp)
c.5606C>A (p.Ala1869Asp)
c.5597C>A (p.Ala1866Asp)
5g.37052526C>GCA359511901NIPBLc.7223C>G (p.Ala2408Gly)
n.1105C>G
c.1-12052C>G (n.1-12052C>G)
c.6479C>G (p.Ala2160Gly)
c.7025C>G (p.Ala2342Gly)
c.6842C>G (p.Ala2281Gly)
c.6563C>G (p.Ala2188Gly)
c.5606C>G (p.Ala1869Gly)
c.5597C>G (p.Ala1866Gly)
5g.37052526C>TCA359511905NIPBLc.7223C>T (p.Ala2408Val)
n.1105C>T
c.1-12052C>T (n.1-12052C>T)
c.6479C>T (p.Ala2160Val)
c.7025C>T (p.Ala2342Val)
c.6842C>T (p.Ala2281Val)
c.6563C>T (p.Ala2188Val)
c.5606C>T (p.Ala1869Val)
c.5597C>T (p.Ala1866Val)
5g.37052527C>ACA443912054NIPBLc.7224C>A (p.Ala2408=)
n.1106C>A
c.1-12051C>A (n.1-12051C>A)
c.6480C>A (p.Ala2160=)
c.7026C>A (p.Ala2342=)
c.6843C>A (p.Ala2281=)
c.6564C>A (p.Ala2188=)
c.5607C>A (p.Ala1869=)
c.5598C>A (p.Ala1866=)
5g.37052527C=CA1539572389NIPBLc.7224C= (p.Ala2408=)
n.1106C=
c.1-12051C= (n.1-12051C=)
c.6480C= (p.Ala2160=)
c.7026C= (p.Ala2342=)
c.6843C= (p.Ala2281=)
c.6564C= (p.Ala2188=)
c.5607C= (p.Ala1869=)
c.5598C= (p.Ala1866=)
5g.37052527C>GCA443912055NIPBLc.7224C>G (p.Ala2408=)
n.1106C>G
c.1-12051C>G (n.1-12051C>G)
c.6480C>G (p.Ala2160=)
c.7026C>G (p.Ala2342=)
c.6843C>G (p.Ala2281=)
c.6564C>G (p.Ala2188=)
c.5607C>G (p.Ala1869=)
c.5598C>G (p.Ala1866=)
5g.37052527C>TCA443912057NIPBLc.7224C>T (p.Ala2408=)
n.1106C>T
c.1-12051C>T (n.1-12051C>T)
c.6480C>T (p.Ala2160=)
c.7026C>T (p.Ala2342=)
c.6843C>T (p.Ala2281=)
c.6564C>T (p.Ala2188=)
c.5607C>T (p.Ala1869=)
c.5598C>T (p.Ala1866=)
 dbSNP gnomAD v3 gnomAD v4
5g.37052528T>ACA359511910NIPBLc.7225T>A (p.Phe2409Ile)
n.1107T>A
c.1-12050T>A (n.1-12050T>A)
c.6481T>A (p.Phe2161Ile)
c.7027T>A (p.Phe2343Ile)
c.6844T>A (p.Phe2282Ile)
c.6565T>A (p.Phe2189Ile)
c.5608T>A (p.Phe1870Ile)
c.5599T>A (p.Phe1867Ile)
5g.37052528T>CCA359511913NIPBLc.7225T>C (p.Phe2409Leu)
n.1107T>C
c.1-12050T>C (n.1-12050T>C)
c.6481T>C (p.Phe2161Leu)
c.7027T>C (p.Phe2343Leu)
c.6844T>C (p.Phe2282Leu)
c.6565T>C (p.Phe2189Leu)
c.5608T>C (p.Phe1870Leu)
c.5599T>C (p.Phe1867Leu)
 dbSNP gnomAD v3 gnomAD v4
5g.37052528T>GCA359511907NIPBLc.7225T>G (p.Phe2409Val)
n.1107T>G
c.1-12050T>G (n.1-12050T>G)
c.6481T>G (p.Phe2161Val)
c.7027T>G (p.Phe2343Val)
c.6844T>G (p.Phe2282Val)
c.6565T>G (p.Phe2189Val)
c.5608T>G (p.Phe1870Val)
c.5599T>G (p.Phe1867Val)
5g.37052528T=CA1539572393NIPBLc.7225T= (p.Phe2409=)
n.1107T=
c.1-12050T= (n.1-12050T=)
c.6481T= (p.Phe2161=)
c.7027T= (p.Phe2343=)
c.6844T= (p.Phe2282=)
c.6565T= (p.Phe2189=)
c.5608T= (p.Phe1870=)
c.5599T= (p.Phe1867=)
5g.37052529T>ACA359511915NIPBLc.7226T>A (p.Phe2409Tyr)
n.1108T>A
c.1-12049T>A (n.1-12049T>A)
c.6482T>A (p.Phe2161Tyr)
c.7028T>A (p.Phe2343Tyr)
c.6845T>A (p.Phe2282Tyr)
c.6566T>A (p.Phe2189Tyr)
c.5609T>A (p.Phe1870Tyr)
c.5600T>A (p.Phe1867Tyr)
5g.37052529T>CCA359511919NIPBLc.7226T>C (p.Phe2409Ser)
n.1108T>C
c.1-12049T>C (n.1-12049T>C)
c.6482T>C (p.Phe2161Ser)
c.7028T>C (p.Phe2343Ser)
c.6845T>C (p.Phe2282Ser)
c.6566T>C (p.Phe2189Ser)
c.5609T>C (p.Phe1870Ser)
c.5600T>C (p.Phe1867Ser)
5g.37052529T>GCA359511917NIPBLc.7226T>G (p.Phe2409Cys)
n.1108T>G
c.1-12049T>G (n.1-12049T>G)
c.6482T>G (p.Phe2161Cys)
c.7028T>G (p.Phe2343Cys)
c.6845T>G (p.Phe2282Cys)
c.6566T>G (p.Phe2189Cys)
c.5609T>G (p.Phe1870Cys)
c.5600T>G (p.Phe1867Cys)
 dbSNP
5g.37052530T>ACA359511920NIPBLc.7227T>A (p.Phe2409Leu)
n.1109T>A
c.1-12048T>A (n.1-12048T>A)
c.6483T>A (p.Phe2161Leu)
c.7029T>A (p.Phe2343Leu)
c.6846T>A (p.Phe2282Leu)
c.6567T>A (p.Phe2189Leu)
c.5610T>A (p.Phe1870Leu)
c.5601T>A (p.Phe1867Leu)
5g.37052530T>CCA443912070NIPBLc.7227T>C (p.Phe2409=)
n.1109T>C
c.1-12048T>C (n.1-12048T>C)
c.6483T>C (p.Phe2161=)
c.7029T>C (p.Phe2343=)
c.6846T>C (p.Phe2282=)
c.6567T>C (p.Phe2189=)
c.5610T>C (p.Phe1870=)
c.5601T>C (p.Phe1867=)
5g.37052530T>GCA359511923NIPBLc.7227T>G (p.Phe2409Leu)
n.1109T>G
c.1-12048T>G (n.1-12048T>G)
c.6483T>G (p.Phe2161Leu)
c.7029T>G (p.Phe2343Leu)
c.6846T>G (p.Phe2282Leu)
c.6567T>G (p.Phe2189Leu)
c.5610T>G (p.Phe1870Leu)
c.5601T>G (p.Phe1867Leu)
5g.37052531C>ACA359511925NIPBLc.7228C>A (p.Leu2410Ile)
n.1110C>A
c.1-12047C>A (n.1-12047C>A)
c.6484C>A (p.Leu2162Ile)
c.7030C>A (p.Leu2344Ile)
c.6847C>A (p.Leu2283Ile)
c.6568C>A (p.Leu2190Ile)
c.5611C>A (p.Leu1871Ile)
c.5602C>A (p.Leu1868Ile)
5g.37052531C>GCA359511928NIPBLc.7228C>G (p.Leu2410Val)
n.1110C>G
c.1-12047C>G (n.1-12047C>G)
c.6484C>G (p.Leu2162Val)
c.7030C>G (p.Leu2344Val)
c.6847C>G (p.Leu2283Val)
c.6568C>G (p.Leu2190Val)
c.5611C>G (p.Leu1871Val)
c.5602C>G (p.Leu1868Val)
5g.37052531C>TCA359511927NIPBLc.7228C>T (p.Leu2410Phe)
n.1110C>T
c.1-12047C>T (n.1-12047C>T)
c.6484C>T (p.Leu2162Phe)
c.7030C>T (p.Leu2344Phe)
c.6847C>T (p.Leu2283Phe)
c.6568C>T (p.Leu2190Phe)
c.5611C>T (p.Leu1871Phe)
c.5602C>T (p.Leu1868Phe)
5g.37052532T>ACA359511931NIPBLc.7229T>A (p.Leu2410His)
n.1111T>A
c.1-12046T>A (n.1-12046T>A)
c.6485T>A (p.Leu2162His)
c.7031T>A (p.Leu2344His)
c.6848T>A (p.Leu2283His)
c.6569T>A (p.Leu2190His)
c.5612T>A (p.Leu1871His)
c.5603T>A (p.Leu1868His)
5g.37052532T>CCA359511935NIPBLc.7229T>C (p.Leu2410Pro)
n.1111T>C
c.1-12046T>C (n.1-12046T>C)
c.6485T>C (p.Leu2162Pro)
c.7031T>C (p.Leu2344Pro)
c.6848T>C (p.Leu2283Pro)
c.6569T>C (p.Leu2190Pro)
c.5612T>C (p.Leu1871Pro)
c.5603T>C (p.Leu1868Pro)
5g.37052532T>GCA359511933NIPBLc.7229T>G (p.Leu2410Arg)
n.1111T>G
c.1-12046T>G (n.1-12046T>G)
c.6485T>G (p.Leu2162Arg)
c.7031T>G (p.Leu2344Arg)
c.6848T>G (p.Leu2283Arg)
c.6569T>G (p.Leu2190Arg)
c.5612T>G (p.Leu1871Arg)
c.5603T>G (p.Leu1868Arg)
5g.37052533T>ACA443912083NIPBLc.7230T>A (p.Leu2410=)
n.1112T>A
c.1-12045T>A (n.1-12045T>A)
c.6486T>A (p.Leu2162=)
c.7032T>A (p.Leu2344=)
c.6849T>A (p.Leu2283=)
c.6570T>A (p.Leu2190=)
c.5613T>A (p.Leu1871=)
c.5604T>A (p.Leu1868=)
5g.37052533T>CCA443912085NIPBLc.7230T>C (p.Leu2410=)
n.1112T>C
c.1-12045T>C (n.1-12045T>C)
c.6486T>C (p.Leu2162=)
c.7032T>C (p.Leu2344=)
c.6849T>C (p.Leu2283=)
c.6570T>C (p.Leu2190=)
c.5613T>C (p.Leu1871=)
c.5604T>C (p.Leu1868=)
5g.37052533T>GCA443912087NIPBLc.7230T>G (p.Leu2410=)
n.1112T>G
c.1-12045T>G (n.1-12045T>G)
c.6486T>G (p.Leu2162=)
c.7032T>G (p.Leu2344=)
c.6849T>G (p.Leu2283=)
c.6570T>G (p.Leu2190=)
c.5613T>G (p.Leu1871=)
c.5604T>G (p.Leu1868=)
5g.37052534A>CCA359511942NIPBLc.7231A>C (p.Ile2411Leu)
n.1113A>C
c.1-12044A>C (n.1-12044A>C)
c.6487A>C (p.Ile2163Leu)
c.7033A>C (p.Ile2345Leu)
c.6850A>C (p.Ile2284Leu)
c.6571A>C (p.Ile2191Leu)
c.5614A>C (p.Ile1872Leu)
c.5605A>C (p.Ile1869Leu)
5g.37052534A>GCA359511947NIPBLc.7231A>G (p.Ile2411Val)
n.1113A>G
c.1-12044A>G (n.1-12044A>G)
c.6487A>G (p.Ile2163Val)
c.7033A>G (p.Ile2345Val)
c.6850A>G (p.Ile2284Val)
c.6571A>G (p.Ile2191Val)
c.5614A>G (p.Ile1872Val)
c.5605A>G (p.Ile1869Val)
 gnomAD v4
5g.37052534A>TCA359511945NIPBLc.7231A>T (p.Ile2411Phe)
n.1113A>T
c.1-12044A>T (n.1-12044A>T)
c.6487A>T (p.Ile2163Phe)
c.7033A>T (p.Ile2345Phe)
c.6850A>T (p.Ile2284Phe)
c.6571A>T (p.Ile2191Phe)
c.5614A>T (p.Ile1872Phe)
c.5605A>T (p.Ile1869Phe)
5g.37052535T>ACA359511952NIPBLc.7232T>A (p.Ile2411Asn)
n.1114T>A
c.1-12043T>A (n.1-12043T>A)
c.6488T>A (p.Ile2163Asn)
c.7034T>A (p.Ile2345Asn)
c.6851T>A (p.Ile2284Asn)
c.6572T>A (p.Ile2191Asn)
c.5615T>A (p.Ile1872Asn)
c.5606T>A (p.Ile1869Asn)
5g.37052535T>CCA359511955NIPBLc.7232T>C (p.Ile2411Thr)
n.1114T>C
c.1-12043T>C (n.1-12043T>C)
c.6488T>C (p.Ile2163Thr)
c.7034T>C (p.Ile2345Thr)
c.6851T>C (p.Ile2284Thr)
c.6572T>C (p.Ile2191Thr)
c.5615T>C (p.Ile1872Thr)
c.5606T>C (p.Ile1869Thr)
 gnomAD v4
5g.37052535T>GCA359511956NIPBLc.7232T>G (p.Ile2411Ser)
n.1114T>G
c.1-12043T>G (n.1-12043T>G)
c.6488T>G (p.Ile2163Ser)
c.7034T>G (p.Ile2345Ser)
c.6851T>G (p.Ile2284Ser)
c.6572T>G (p.Ile2191Ser)
c.5615T>G (p.Ile1872Ser)
c.5606T>G (p.Ile1869Ser)
5g.37052536T>ACA443912100NIPBLc.7233T>A (p.Ile2411=)
n.1115T>A
c.1-12042T>A (n.1-12042T>A)
c.6489T>A (p.Ile2163=)
c.7035T>A (p.Ile2345=)
c.6852T>A (p.Ile2284=)
c.6573T>A (p.Ile2191=)
c.5616T>A (p.Ile1872=)
c.5607T>A (p.Ile1869=)
5g.37052536T>CCA443912098NIPBLc.7233T>C (p.Ile2411=)
n.1115T>C
c.1-12042T>C (n.1-12042T>C)
c.6489T>C (p.Ile2163=)
c.7035T>C (p.Ile2345=)
c.6852T>C (p.Ile2284=)
c.6573T>C (p.Ile2191=)
c.5616T>C (p.Ile1872=)
c.5607T>C (p.Ile1869=)
5g.37052536T>GCA359511957NIPBLc.7233T>G (p.Ile2411Met)
n.1115T>G
c.1-12042T>G (n.1-12042T>G)
c.6489T>G (p.Ile2163Met)
c.7035T>G (p.Ile2345Met)
c.6852T>G (p.Ile2284Met)
c.6573T>G (p.Ile2191Met)
c.5616T>G (p.Ile1872Met)
c.5607T>G (p.Ile1869Met)
5g.37052537T>ACA359511958NIPBLc.7234T>A (p.Ser2412Thr)
n.1116T>A
c.1-12041T>A (n.1-12041T>A)
c.6490T>A (p.Ser2164Thr)
c.7036T>A (p.Ser2346Thr)
c.6853T>A (p.Ser2285Thr)
c.6574T>A (p.Ser2192Thr)
c.5617T>A (p.Ser1873Thr)
c.5608T>A (p.Ser1870Thr)
5g.37052537T>CCA359511959NIPBLc.7234T>C (p.Ser2412Pro)
n.1116T>C
c.1-12041T>C (n.1-12041T>C)
c.6490T>C (p.Ser2164Pro)
c.7036T>C (p.Ser2346Pro)
c.6853T>C (p.Ser2285Pro)
c.6574T>C (p.Ser2192Pro)
c.5617T>C (p.Ser1873Pro)
c.5608T>C (p.Ser1870Pro)
5g.37052537T>GCA359511962NIPBLc.7234T>G (p.Ser2412Ala)
n.1116T>G
c.1-12041T>G (n.1-12041T>G)
c.6490T>G (p.Ser2164Ala)
c.7036T>G (p.Ser2346Ala)
c.6853T>G (p.Ser2285Ala)
c.6574T>G (p.Ser2192Ala)
c.5617T>G (p.Ser1873Ala)
c.5608T>G (p.Ser1870Ala)
5g.37052538C>ACA359511963NIPBLc.7235C>A (p.Ser2412Tyr)
n.1117C>A
c.1-12040C>A (n.1-12040C>A)
c.6491C>A (p.Ser2164Tyr)
c.7037C>A (p.Ser2346Tyr)
c.6854C>A (p.Ser2285Tyr)
c.6575C>A (p.Ser2192Tyr)
c.5618C>A (p.Ser1873Tyr)
c.5609C>A (p.Ser1870Tyr)
5g.37052538C=CA1539572402NIPBLc.7235C= (p.Ser2412=)
n.1117C=
c.1-12040C= (n.1-12040C=)
c.6491C= (p.Ser2164=)
c.7037C= (p.Ser2346=)
c.6854C= (p.Ser2285=)
c.6575C= (p.Ser2192=)
c.5618C= (p.Ser1873=)
c.5609C= (p.Ser1870=)
5g.37052538C>GCA3237156NIPBLc.7235C>G (p.Ser2412Cys)
n.1117C>G
c.1-12040C>G (n.1-12040C>G)
c.6491C>G (p.Ser2164Cys)
c.7037C>G (p.Ser2346Cys)
c.6854C>G (p.Ser2285Cys)
c.6575C>G (p.Ser2192Cys)
c.5618C>G (p.Ser1873Cys)
c.5609C>G (p.Ser1870Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37052538C>TCA359511966NIPBLc.7235C>T (p.Ser2412Phe)
n.1117C>T
c.1-12040C>T (n.1-12040C>T)
c.6491C>T (p.Ser2164Phe)
c.7037C>T (p.Ser2346Phe)
c.6854C>T (p.Ser2285Phe)
c.6575C>T (p.Ser2192Phe)
c.5618C>T (p.Ser1873Phe)
c.5609C>T (p.Ser1870Phe)
5g.37052539T>ACA443912112NIPBLc.7236T>A (p.Ser2412=)
n.1118T>A
c.1-12039T>A (n.1-12039T>A)
c.6492T>A (p.Ser2164=)
c.7038T>A (p.Ser2346=)
c.6855T>A (p.Ser2285=)
c.6576T>A (p.Ser2192=)
c.5619T>A (p.Ser1873=)
c.5610T>A (p.Ser1870=)
5g.37052539T>CCA443912113NIPBLc.7236T>C (p.Ser2412=)
n.1118T>C
c.1-12039T>C (n.1-12039T>C)
c.6492T>C (p.Ser2164=)
c.7038T>C (p.Ser2346=)
c.6855T>C (p.Ser2285=)
c.6576T>C (p.Ser2192=)
c.5619T>C (p.Ser1873=)
c.5610T>C (p.Ser1870=)
5g.37052539T>GCA443912116NIPBLc.7236T>G (p.Ser2412=)
n.1118T>G
c.1-12039T>G (n.1-12039T>G)
c.6492T>G (p.Ser2164=)
c.7038T>G (p.Ser2346=)
c.6855T>G (p.Ser2285=)
c.6576T>G (p.Ser2192=)
c.5619T>G (p.Ser1873=)
c.5610T>G (p.Ser1870=)
5g.37052540T>ACA359511986NIPBLc.7237T>A (p.Leu2413Ile)
n.1119T>A
c.1-12038T>A (n.1-12038T>A)
c.6493T>A (p.Leu2165Ile)
c.7039T>A (p.Leu2347Ile)
c.6856T>A (p.Leu2286Ile)
c.6577T>A (p.Leu2193Ile)
c.5620T>A (p.Leu1874Ile)
c.5611T>A (p.Leu1871Ile)
5g.37052540T>CCA443912119NIPBLc.7237T>C (p.Leu2413=)
n.1119T>C
c.1-12038T>C (n.1-12038T>C)
c.6493T>C (p.Leu2165=)
c.7039T>C (p.Leu2347=)
c.6856T>C (p.Leu2286=)
c.6577T>C (p.Leu2193=)
c.5620T>C (p.Leu1874=)
c.5611T>C (p.Leu1871=)
5g.37052540T>GCA359511983NIPBLc.7237T>G (p.Leu2413Val)
n.1119T>G
c.1-12038T>G (n.1-12038T>G)
c.6493T>G (p.Leu2165Val)
c.7039T>G (p.Leu2347Val)
c.6856T>G (p.Leu2286Val)
c.6577T>G (p.Leu2193Val)
c.5620T>G (p.Leu1874Val)
c.5611T>G (p.Leu1871Val)
5g.37052541T>ACA359511992NIPBLc.7238T>A (p.Leu2413Ter)
n.1120T>A
c.1-12037T>A (n.1-12037T>A)
c.6494T>A (p.Leu2165Ter)
c.7040T>A (p.Leu2347Ter)
c.6857T>A (p.Leu2286Ter)
c.6578T>A (p.Leu2193Ter)
c.5621T>A (p.Leu1874Ter)
c.5612T>A (p.Leu1871Ter)
5g.37052541T>CCA359511995NIPBLc.7238T>C (p.Leu2413Ser)
n.1120T>C
c.1-12037T>C (n.1-12037T>C)
c.6494T>C (p.Leu2165Ser)
c.7040T>C (p.Leu2347Ser)
c.6857T>C (p.Leu2286Ser)
c.6578T>C (p.Leu2193Ser)
c.5621T>C (p.Leu1874Ser)
c.5612T>C (p.Leu1871Ser)
5g.37052541T>GCA359511997NIPBLc.7238T>G (p.Leu2413Ter)
n.1120T>G
c.1-12037T>G (n.1-12037T>G)
c.6494T>G (p.Leu2165Ter)
c.7040T>G (p.Leu2347Ter)
c.6857T>G (p.Leu2286Ter)
c.6578T>G (p.Leu2193Ter)
c.5621T>G (p.Leu1874Ter)
c.5612T>G (p.Leu1871Ter)
5g.37052542A>CCA359511999NIPBLc.7239A>C (p.Leu2413Phe)
n.1121A>C
c.1-12036A>C (n.1-12036A>C)
c.6495A>C (p.Leu2165Phe)
c.7041A>C (p.Leu2347Phe)
c.6858A>C (p.Leu2286Phe)
c.6579A>C (p.Leu2193Phe)
c.5622A>C (p.Leu1874Phe)
c.5613A>C (p.Leu1871Phe)
5g.37052542A>GCA443912130NIPBLc.7239A>G (p.Leu2413=)
n.1121A>G
c.1-12036A>G (n.1-12036A>G)
c.6495A>G (p.Leu2165=)
c.7041A>G (p.Leu2347=)
c.6858A>G (p.Leu2286=)
c.6579A>G (p.Leu2193=)
c.5622A>G (p.Leu1874=)
c.5613A>G (p.Leu1871=)
5g.37052542A>TCA359512002NIPBLc.7239A>T (p.Leu2413Phe)
n.1121A>T
c.1-12036A>T (n.1-12036A>T)
c.6495A>T (p.Leu2165Phe)
c.7041A>T (p.Leu2347Phe)
c.6858A>T (p.Leu2286Phe)
c.6579A>T (p.Leu2193Phe)
c.5622A>T (p.Leu1874Phe)
c.5613A>T (p.Leu1871Phe)
5g.37052543C>ACA359512006NIPBLc.7240C>A (p.Leu2414Ile)
n.1122C>A
c.1-12035C>A (n.1-12035C>A)
c.6496C>A (p.Leu2166Ile)
c.7042C>A (p.Leu2348Ile)
c.6859C>A (p.Leu2287Ile)
c.6580C>A (p.Leu2194Ile)
c.5623C>A (p.Leu1875Ile)
c.5614C>A (p.Leu1872Ile)
5g.37052543C>GCA359512007NIPBLc.7240C>G (p.Leu2414Val)
n.1122C>G
c.1-12035C>G (n.1-12035C>G)
c.6496C>G (p.Leu2166Val)
c.7042C>G (p.Leu2348Val)
c.6859C>G (p.Leu2287Val)
c.6580C>G (p.Leu2194Val)
c.5623C>G (p.Leu1875Val)
c.5614C>G (p.Leu1872Val)
5g.37052543C>TCA359512008NIPBLc.7240C>T (p.Leu2414Phe)
n.1122C>T
c.1-12035C>T (n.1-12035C>T)
c.6496C>T (p.Leu2166Phe)
c.7042C>T (p.Leu2348Phe)
c.6859C>T (p.Leu2287Phe)
c.6580C>T (p.Leu2194Phe)
c.5623C>T (p.Leu1875Phe)
c.5614C>T (p.Leu1872Phe)
5g.37052544T>ACA359512010NIPBLc.7241T>A (p.Leu2414His)
n.1123T>A
c.1-12034T>A (n.1-12034T>A)
c.6497T>A (p.Leu2166His)
c.7043T>A (p.Leu2348His)
c.6860T>A (p.Leu2287His)
c.6581T>A (p.Leu2194His)
c.5624T>A (p.Leu1875His)
c.5615T>A (p.Leu1872His)
5g.37052544T>CCA359512012NIPBLc.7241T>C (p.Leu2414Pro)
n.1123T>C
c.1-12034T>C (n.1-12034T>C)
c.6497T>C (p.Leu2166Pro)
c.7043T>C (p.Leu2348Pro)
c.6860T>C (p.Leu2287Pro)
c.6581T>C (p.Leu2194Pro)
c.5624T>C (p.Leu1875Pro)
c.5615T>C (p.Leu1872Pro)
5g.37052544T>GCA359512014NIPBLc.7241T>G (p.Leu2414Arg)
n.1123T>G
c.1-12034T>G (n.1-12034T>G)
c.6497T>G (p.Leu2166Arg)
c.7043T>G (p.Leu2348Arg)
c.6860T>G (p.Leu2287Arg)
c.6581T>G (p.Leu2194Arg)
c.5624T>G (p.Leu1875Arg)
c.5615T>G (p.Leu1872Arg)
5g.37052545C>ACA443912142NIPBLc.7242C>A (p.Leu2414=)
n.1124C>A
c.1-12033C>A (n.1-12033C>A)
c.6498C>A (p.Leu2166=)
c.7044C>A (p.Leu2348=)
c.6861C>A (p.Leu2287=)
c.6582C>A (p.Leu2194=)
c.5625C>A (p.Leu1875=)
c.5616C>A (p.Leu1872=)
5g.37052545C>GCA443912143NIPBLc.7242C>G (p.Leu2414=)
n.1124C>G
c.1-12033C>G (n.1-12033C>G)
c.6498C>G (p.Leu2166=)
c.7044C>G (p.Leu2348=)
c.6861C>G (p.Leu2287=)
c.6582C>G (p.Leu2194=)
c.5625C>G (p.Leu1875=)
c.5616C>G (p.Leu1872=)
 gnomAD v4
5g.37052545C>TCA443912145NIPBLc.7242C>T (p.Leu2414=)
n.1124C>T
c.1-12033C>T (n.1-12033C>T)
c.6498C>T (p.Leu2166=)
c.7044C>T (p.Leu2348=)
c.6861C>T (p.Leu2287=)
c.6582C>T (p.Leu2194=)
c.5625C>T (p.Leu1875=)
c.5616C>T (p.Leu1872=)
 gnomAD v4

Number of alleles fetched