Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37020448T>CCA1075105864NIPBLc.5011-11T>C (n.5011-11T>C)
c.1-44130T>C (n.1-44130T>C)
c.4267-11T>C (n.4267-11T>C)
c.4813-11T>C (n.4813-11T>C)
c.4630-11T>C (n.4630-11T>C)
c.4351-11T>C (n.4351-11T>C)
c.3394-11T>C (n.3394-11T>C)
c.3385-11T>C (n.3385-11T>C)
 dbSNP gnomAD v3 gnomAD v4
5g.37020448T=CA1539619109NIPBLc.5011-11T= (n.5011-11T=)
c.1-44130T= (n.1-44130T=)
c.4267-11T= (n.4267-11T=)
c.4813-11T= (n.4813-11T=)
c.4630-11T= (n.4630-11T=)
c.4351-11T= (n.4351-11T=)
c.3394-11T= (n.3394-11T=)
c.3385-11T= (n.3385-11T=)
5g.37020451C>ACA117027870NIPBLc.5011-8C>A (n.5011-8C>A)
c.1-44127C>A (n.1-44127C>A)
c.4267-8C>A (n.4267-8C>A)
c.4813-8C>A (n.4813-8C>A)
c.4630-8C>A (n.4630-8C>A)
c.4351-8C>A (n.4351-8C>A)
c.3394-8C>A (n.3394-8C>A)
c.3385-8C>A (n.3385-8C>A)
 dbSNP gnomAD v4
5g.37020451C=CA1539619110NIPBLc.5011-8C= (n.5011-8C=)
c.1-44127C= (n.1-44127C=)
c.4267-8C= (n.4267-8C=)
c.4813-8C= (n.4813-8C=)
c.4630-8C= (n.4630-8C=)
c.4351-8C= (n.4351-8C=)
c.3394-8C= (n.3394-8C=)
c.3385-8C= (n.3385-8C=)
5g.37020451C>TCA3236689NIPBLc.5011-8C>T (n.5011-8C>T)
c.1-44127C>T (n.1-44127C>T)
c.4267-8C>T (n.4267-8C>T)
c.4813-8C>T (n.4813-8C>T)
c.4630-8C>T (n.4630-8C>T)
c.4351-8C>T (n.4351-8C>T)
c.3394-8C>T (n.3394-8C>T)
c.3385-8C>T (n.3385-8C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37020454T>CCA2673553224NIPBLc.5011-5T>C (n.5011-5T>C)
c.1-44124T>C (n.1-44124T>C)
c.4267-5T>C (n.4267-5T>C)
c.4813-5T>C (n.4813-5T>C)
c.4630-5T>C (n.4630-5T>C)
c.4351-5T>C (n.4351-5T>C)
c.3394-5T>C (n.3394-5T>C)
c.3385-5T>C (n.3385-5T>C)
 gnomAD v4
5g.37020454_37020455delCA2578289403NIPBLc.5011-5_5011-4del (n.5011-5_5011-4del)
c.1-44124_1-44123del (n.1-44124_1-44123del)
c.4267-5_4267-4del (n.4267-5_4267-4del)
c.4813-5_4813-4del (n.4813-5_4813-4del)
c.4630-5_4630-4del (n.4630-5_4630-4del)
c.4351-5_4351-4del (n.4351-5_4351-4del)
c.3394-5_3394-4del (n.3394-5_3394-4del)
c.3385-5_3385-4del (n.3385-5_3385-4del)
5g.37020455C=CA1539619111NIPBLc.5011-4C= (n.5011-4C=)
c.1-44123C= (n.1-44123C=)
c.4267-4C= (n.4267-4C=)
c.4813-4C= (n.4813-4C=)
c.4630-4C= (n.4630-4C=)
c.4351-4C= (n.4351-4C=)
c.3394-4C= (n.3394-4C=)
c.3385-4C= (n.3385-4C=)
5g.37020455C>GCA3236690NIPBLc.5011-4C>G (n.5011-4C>G)
c.1-44123C>G (n.1-44123C>G)
c.4267-4C>G (n.4267-4C>G)
c.4813-4C>G (n.4813-4C>G)
c.4630-4C>G (n.4630-4C>G)
c.4351-4C>G (n.4351-4C>G)
c.3394-4C>G (n.3394-4C>G)
c.3385-4C>G (n.3385-4C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37020457A>CCA359486199NIPBLc.5011-2A>C (n.5011-2A>C)
c.1-44121A>C (n.1-44121A>C)
c.4267-2A>C (n.4267-2A>C)
c.4813-2A>C (n.4813-2A>C)
c.4630-2A>C (n.4630-2A>C)
c.4351-2A>C (n.4351-2A>C)
c.3394-2A>C (n.3394-2A>C)
c.3385-2A>C (n.3385-2A>C)
5g.37020457A>GCA359486203NIPBLc.5011-2A>G (n.5011-2A>G)
c.1-44121A>G (n.1-44121A>G)
c.4267-2A>G (n.4267-2A>G)
c.4813-2A>G (n.4813-2A>G)
c.4630-2A>G (n.4630-2A>G)
c.4351-2A>G (n.4351-2A>G)
c.3394-2A>G (n.3394-2A>G)
c.3385-2A>G (n.3385-2A>G)
5g.37020457A>TCA359486204NIPBLc.5011-2A>T (n.5011-2A>T)
c.1-44121A>T (n.1-44121A>T)
c.4267-2A>T (n.4267-2A>T)
c.4813-2A>T (n.4813-2A>T)
c.4630-2A>T (n.4630-2A>T)
c.4351-2A>T (n.4351-2A>T)
c.3394-2A>T (n.3394-2A>T)
c.3385-2A>T (n.3385-2A>T)
5g.37020458G>ACA359486207NIPBLc.5011-1G>A (n.5011-1G>A)
c.1-44120G>A (n.1-44120G>A)
c.4267-1G>A (n.4267-1G>A)
c.4813-1G>A (n.4813-1G>A)
c.4630-1G>A (n.4630-1G>A)
c.4351-1G>A (n.4351-1G>A)
c.3394-1G>A (n.3394-1G>A)
c.3385-1G>A (n.3385-1G>A)
5g.37020458G>CCA359486210NIPBLc.5011-1G>C (n.5011-1G>C)
c.1-44120G>C (n.1-44120G>C)
c.4267-1G>C (n.4267-1G>C)
c.4813-1G>C (n.4813-1G>C)
c.4630-1G>C (n.4630-1G>C)
c.4351-1G>C (n.4351-1G>C)
c.3394-1G>C (n.3394-1G>C)
c.3385-1G>C (n.3385-1G>C)
 ClinVar dbSNP
5g.37020458G=CA1539619113NIPBLc.5011-1G= (n.5011-1G=)
c.1-44120G= (n.1-44120G=)
c.4267-1G= (n.4267-1G=)
c.4813-1G= (n.4813-1G=)
c.4630-1G= (n.4630-1G=)
c.4351-1G= (n.4351-1G=)
c.3394-1G= (n.3394-1G=)
c.3385-1G= (n.3385-1G=)
5g.37020458G>TCA359486211NIPBLc.5011-1G>T (n.5011-1G>T)
c.1-44120G>T (n.1-44120G>T)
c.4267-1G>T (n.4267-1G>T)
c.4813-1G>T (n.4813-1G>T)
c.4630-1G>T (n.4630-1G>T)
c.4351-1G>T (n.4351-1G>T)
c.3394-1G>T (n.3394-1G>T)
c.3385-1G>T (n.3385-1G>T)
 COSMIC COSMIC
5g.37020459T>ACA359486222NIPBLc.5011T>A (p.Phe1671Ile)
c.1-44119T>A (n.1-44119T>A)
c.4267T>A (p.Phe1423Ile)
c.4813T>A (p.Phe1605Ile)
c.4630T>A (p.Phe1544Ile)
c.4351T>A (p.Phe1451Ile)
c.3394T>A (p.Phe1132Ile)
c.3385T>A (p.Phe1129Ile)
5g.37020459T>CCA359486214NIPBLc.5011T>C (p.Phe1671Leu)
c.1-44119T>C (n.1-44119T>C)
c.4267T>C (p.Phe1423Leu)
c.4813T>C (p.Phe1605Leu)
c.4630T>C (p.Phe1544Leu)
c.4351T>C (p.Phe1451Leu)
c.3394T>C (p.Phe1132Leu)
c.3385T>C (p.Phe1129Leu)
5g.37020459T>GCA359486217NIPBLc.5011T>G (p.Phe1671Val)
c.1-44119T>G (n.1-44119T>G)
c.4267T>G (p.Phe1423Val)
c.4813T>G (p.Phe1605Val)
c.4630T>G (p.Phe1544Val)
c.4351T>G (p.Phe1451Val)
c.3394T>G (p.Phe1132Val)
c.3385T>G (p.Phe1129Val)
5g.37020460T>ACA359486225NIPBLc.5012T>A (p.Phe1671Tyr)
c.1-44118T>A (n.1-44118T>A)
c.4268T>A (p.Phe1423Tyr)
c.4814T>A (p.Phe1605Tyr)
c.4631T>A (p.Phe1544Tyr)
c.4352T>A (p.Phe1451Tyr)
c.3395T>A (p.Phe1132Tyr)
c.3386T>A (p.Phe1129Tyr)
5g.37020460T>CCA359486226NIPBLc.5012T>C (p.Phe1671Ser)
c.1-44118T>C (n.1-44118T>C)
c.4268T>C (p.Phe1423Ser)
c.4814T>C (p.Phe1605Ser)
c.4631T>C (p.Phe1544Ser)
c.4352T>C (p.Phe1451Ser)
c.3395T>C (p.Phe1132Ser)
c.3386T>C (p.Phe1129Ser)
 dbSNP
5g.37020460T>GCA359486230NIPBLc.5012T>G (p.Phe1671Cys)
c.1-44118T>G (n.1-44118T>G)
c.4268T>G (p.Phe1423Cys)
c.4814T>G (p.Phe1605Cys)
c.4631T>G (p.Phe1544Cys)
c.4352T>G (p.Phe1451Cys)
c.3395T>G (p.Phe1132Cys)
c.3386T>G (p.Phe1129Cys)
5g.37020460T=CA1539619115NIPBLc.5012T= (p.Phe1671=)
c.1-44118T= (n.1-44118T=)
c.4268T= (p.Phe1423=)
c.4814T= (p.Phe1605=)
c.4631T= (p.Phe1544=)
c.4352T= (p.Phe1451=)
c.3395T= (p.Phe1132=)
c.3386T= (p.Phe1129=)
5g.37020461T>ACA359486233NIPBLc.5013T>A (p.Phe1671Leu)
c.1-44117T>A (n.1-44117T>A)
c.4269T>A (p.Phe1423Leu)
c.4815T>A (p.Phe1605Leu)
c.4632T>A (p.Phe1544Leu)
c.4353T>A (p.Phe1451Leu)
c.3396T>A (p.Phe1132Leu)
c.3387T>A (p.Phe1129Leu)
5g.37020461T>CCA443904877NIPBLc.5013T>C (p.Phe1671=)
c.1-44117T>C (n.1-44117T>C)
c.4269T>C (p.Phe1423=)
c.4815T>C (p.Phe1605=)
c.4632T>C (p.Phe1544=)
c.4353T>C (p.Phe1451=)
c.3396T>C (p.Phe1132=)
c.3387T>C (p.Phe1129=)
5g.37020461T>GCA359486235NIPBLc.5013T>G (p.Phe1671Leu)
c.1-44117T>G (n.1-44117T>G)
c.4269T>G (p.Phe1423Leu)
c.4815T>G (p.Phe1605Leu)
c.4632T>G (p.Phe1544Leu)
c.4353T>G (p.Phe1451Leu)
c.3396T>G (p.Phe1132Leu)
c.3387T>G (p.Phe1129Leu)
5g.37020462T>ACA359486237NIPBLc.5014T>A (p.Ser1672Thr)
c.1-44116T>A (n.1-44116T>A)
c.4270T>A (p.Ser1424Thr)
c.4816T>A (p.Ser1606Thr)
c.4633T>A (p.Ser1545Thr)
c.4354T>A (p.Ser1452Thr)
c.3397T>A (p.Ser1133Thr)
c.3388T>A (p.Ser1130Thr)
5g.37020462T>CCA359486242NIPBLc.5014T>C (p.Ser1672Pro)
c.1-44116T>C (n.1-44116T>C)
c.4270T>C (p.Ser1424Pro)
c.4816T>C (p.Ser1606Pro)
c.4633T>C (p.Ser1545Pro)
c.4354T>C (p.Ser1452Pro)
c.3397T>C (p.Ser1133Pro)
c.3388T>C (p.Ser1130Pro)
5g.37020462T>GCA359486239NIPBLc.5014T>G (p.Ser1672Ala)
c.1-44116T>G (n.1-44116T>G)
c.4270T>G (p.Ser1424Ala)
c.4816T>G (p.Ser1606Ala)
c.4633T>G (p.Ser1545Ala)
c.4354T>G (p.Ser1452Ala)
c.3397T>G (p.Ser1133Ala)
c.3388T>G (p.Ser1130Ala)
5g.37020463C>ACA359486243NIPBLc.5015C>A (p.Ser1672Tyr)
c.1-44115C>A (n.1-44115C>A)
c.4271C>A (p.Ser1424Tyr)
c.4817C>A (p.Ser1606Tyr)
c.4634C>A (p.Ser1545Tyr)
c.4355C>A (p.Ser1452Tyr)
c.3398C>A (p.Ser1133Tyr)
c.3389C>A (p.Ser1130Tyr)
5g.37020463C>GCA359486246NIPBLc.5015C>G (p.Ser1672Cys)
c.1-44115C>G (n.1-44115C>G)
c.4271C>G (p.Ser1424Cys)
c.4817C>G (p.Ser1606Cys)
c.4634C>G (p.Ser1545Cys)
c.4355C>G (p.Ser1452Cys)
c.3398C>G (p.Ser1133Cys)
c.3389C>G (p.Ser1130Cys)
5g.37020463C>TCA359486247NIPBLc.5015C>T (p.Ser1672Phe)
c.1-44115C>T (n.1-44115C>T)
c.4271C>T (p.Ser1424Phe)
c.4817C>T (p.Ser1606Phe)
c.4634C>T (p.Ser1545Phe)
c.4355C>T (p.Ser1452Phe)
c.3398C>T (p.Ser1133Phe)
c.3389C>T (p.Ser1130Phe)
5g.37020464T>ACA443904881NIPBLc.5016T>A (p.Ser1672=)
c.1-44114T>A (n.1-44114T>A)
c.4272T>A (p.Ser1424=)
c.4818T>A (p.Ser1606=)
c.4635T>A (p.Ser1545=)
c.4356T>A (p.Ser1452=)
c.3399T>A (p.Ser1133=)
c.3390T>A (p.Ser1130=)
5g.37020464T>CCA3236691NIPBLc.5016T>C (p.Ser1672=)
c.1-44114T>C (n.1-44114T>C)
c.4272T>C (p.Ser1424=)
c.4818T>C (p.Ser1606=)
c.4635T>C (p.Ser1545=)
c.4356T>C (p.Ser1452=)
c.3399T>C (p.Ser1133=)
c.3390T>C (p.Ser1130=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
5g.37020464T>GCA443904882NIPBLc.5016T>G (p.Ser1672=)
c.1-44114T>G (n.1-44114T>G)
c.4272T>G (p.Ser1424=)
c.4818T>G (p.Ser1606=)
c.4635T>G (p.Ser1545=)
c.4356T>G (p.Ser1452=)
c.3399T>G (p.Ser1133=)
c.3390T>G (p.Ser1130=)
5g.37020464T=CA1539619118NIPBLc.5016T= (p.Ser1672=)
c.1-44114T= (n.1-44114T=)
c.4272T= (p.Ser1424=)
c.4818T= (p.Ser1606=)
c.4635T= (p.Ser1545=)
c.4356T= (p.Ser1452=)
c.3399T= (p.Ser1133=)
c.3390T= (p.Ser1130=)
5g.37020465C>ACA359486251NIPBLc.5017C>A (p.Arg1673Ser)
c.1-44113C>A (n.1-44113C>A)
c.4273C>A (p.Arg1425Ser)
c.4819C>A (p.Arg1607Ser)
c.4636C>A (p.Arg1546Ser)
c.4357C>A (p.Arg1453Ser)
c.3400C>A (p.Arg1134Ser)
c.3391C>A (p.Arg1131Ser)
 gnomAD v4
5g.37020465C=CA1539619122NIPBLc.5017C= (p.Arg1673=)
c.1-44113C= (n.1-44113C=)
c.4273C= (p.Arg1425=)
c.4819C= (p.Arg1607=)
c.4636C= (p.Arg1546=)
c.4357C= (p.Arg1453=)
c.3400C= (p.Arg1134=)
c.3391C= (p.Arg1131=)
5g.37020465C>GCA359486252NIPBLc.5017C>G (p.Arg1673Gly)
c.1-44113C>G (n.1-44113C>G)
c.4273C>G (p.Arg1425Gly)
c.4819C>G (p.Arg1607Gly)
c.4636C>G (p.Arg1546Gly)
c.4357C>G (p.Arg1453Gly)
c.3400C>G (p.Arg1134Gly)
c.3391C>G (p.Arg1131Gly)
5g.37020465C>TCA117027886NIPBLc.5017C>T (p.Arg1673Cys)
c.1-44113C>T (n.1-44113C>T)
c.4273C>T (p.Arg1425Cys)
c.4819C>T (p.Arg1607Cys)
c.4636C>T (p.Arg1546Cys)
c.4357C>T (p.Arg1453Cys)
c.3400C>T (p.Arg1134Cys)
c.3391C>T (p.Arg1131Cys)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
5g.37020466G>ACA3236692NIPBLc.5018G>A (p.Arg1673His)
c.1-44112G>A (n.1-44112G>A)
c.4274G>A (p.Arg1425His)
c.4820G>A (p.Arg1607His)
c.4637G>A (p.Arg1546His)
c.4358G>A (p.Arg1453His)
c.3401G>A (p.Arg1134His)
c.3392G>A (p.Arg1131His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.37020466G>CCA359486254NIPBLc.5018G>C (p.Arg1673Pro)
c.1-44112G>C (n.1-44112G>C)
c.4274G>C (p.Arg1425Pro)
c.4820G>C (p.Arg1607Pro)
c.4637G>C (p.Arg1546Pro)
c.4358G>C (p.Arg1453Pro)
c.3401G>C (p.Arg1134Pro)
c.3392G>C (p.Arg1131Pro)
5g.37020466G=CA1539619128NIPBLc.5018G= (p.Arg1673=)
c.1-44112G= (n.1-44112G=)
c.4274G= (p.Arg1425=)
c.4820G= (p.Arg1607=)
c.4637G= (p.Arg1546=)
c.4358G= (p.Arg1453=)
c.3401G= (p.Arg1134=)
c.3392G= (p.Arg1131=)
5g.37020466G>TCA359486256NIPBLc.5018G>T (p.Arg1673Leu)
c.1-44112G>T (n.1-44112G>T)
c.4274G>T (p.Arg1425Leu)
c.4820G>T (p.Arg1607Leu)
c.4637G>T (p.Arg1546Leu)
c.4358G>T (p.Arg1453Leu)
c.3401G>T (p.Arg1134Leu)
c.3392G>T (p.Arg1131Leu)
5g.37020467T>ACA443904884NIPBLc.5019T>A (p.Arg1673=)
c.1-44111T>A (n.1-44111T>A)
c.4275T>A (p.Arg1425=)
c.4821T>A (p.Arg1607=)
c.4638T>A (p.Arg1546=)
c.4359T>A (p.Arg1453=)
c.3402T>A (p.Arg1134=)
c.3393T>A (p.Arg1131=)
5g.37020467T>CCA443904885NIPBLc.5019T>C (p.Arg1673=)
c.1-44111T>C (n.1-44111T>C)
c.4275T>C (p.Arg1425=)
c.4821T>C (p.Arg1607=)
c.4638T>C (p.Arg1546=)
c.4359T>C (p.Arg1453=)
c.3402T>C (p.Arg1134=)
c.3393T>C (p.Arg1131=)
 gnomAD v4
5g.37020467T>GCA443904886NIPBLc.5019T>G (p.Arg1673=)
c.1-44111T>G (n.1-44111T>G)
c.4275T>G (p.Arg1425=)
c.4821T>G (p.Arg1607=)
c.4638T>G (p.Arg1546=)
c.4359T>G (p.Arg1453=)
c.3402T>G (p.Arg1134=)
c.3393T>G (p.Arg1131=)
5g.37020468A>CCA359486271NIPBLc.5020A>C (p.Lys1674Gln)
c.1-44110A>C (n.1-44110A>C)
c.4276A>C (p.Lys1426Gln)
c.4822A>C (p.Lys1608Gln)
c.4639A>C (p.Lys1547Gln)
c.4360A>C (p.Lys1454Gln)
c.3403A>C (p.Lys1135Gln)
c.3394A>C (p.Lys1132Gln)
5g.37020468A>GCA359486268NIPBLc.5020A>G (p.Lys1674Glu)
c.1-44110A>G (n.1-44110A>G)
c.4276A>G (p.Lys1426Glu)
c.4822A>G (p.Lys1608Glu)
c.4639A>G (p.Lys1547Glu)
c.4360A>G (p.Lys1454Glu)
c.3403A>G (p.Lys1135Glu)
c.3394A>G (p.Lys1132Glu)
5g.37020468A>TCA359486264NIPBLc.5020A>T (p.Lys1674Ter)
c.1-44110A>T (n.1-44110A>T)
c.4276A>T (p.Lys1426Ter)
c.4822A>T (p.Lys1608Ter)
c.4639A>T (p.Lys1547Ter)
c.4360A>T (p.Lys1454Ter)
c.3403A>T (p.Lys1135Ter)
c.3394A>T (p.Lys1132Ter)

Number of alleles fetched