Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
5	g.36975898T>A	CA359483301	NIPBL	c.991T>A (p.Leu331Ile) n.611T>A c.1-88680T>A (n.1-88680T>A) c.247T>A (p.Leu83Ile) c.331T>A (p.Leu111Ile)
5	g.36975898T>C	CA444095055	NIPBL	c.991T>C (p.Leu331=) n.611T>C c.1-88680T>C (n.1-88680T>C) c.247T>C (p.Leu83=) c.331T>C (p.Leu111=)	dbSNP
5	g.36975898T>G	CA359483303	NIPBL	c.991T>G (p.Leu331Val) n.611T>G c.1-88680T>G (n.1-88680T>G) c.247T>G (p.Leu83Val) c.331T>G (p.Leu111Val)
5	g.36975898T=	CA1539569045	NIPBL	c.991T= (p.Leu331=) n.611T= c.1-88680T= (n.1-88680T=) c.247T= (p.Leu83=) c.331T= (p.Leu111=)
5	g.36975899T>A	CA359483311	NIPBL	c.992T>A (p.Leu331Ter) n.612T>A c.1-88679T>A (n.1-88679T>A) c.248T>A (p.Leu83Ter) c.332T>A (p.Leu111Ter)
5	g.36975899T>C	CA3235975	NIPBL	c.992T>C (p.Leu331Ser) n.612T>C c.1-88679T>C (n.1-88679T>C) c.248T>C (p.Leu83Ser) c.332T>C (p.Leu111Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5	g.36975899T>G	CA359483312	NIPBL	c.992T>G (p.Leu331Ter) n.612T>G c.1-88679T>G (n.1-88679T>G) c.248T>G (p.Leu83Ter) c.332T>G (p.Leu111Ter)
5	g.36975899T=	CA1539569048	NIPBL	c.992T= (p.Leu331=) n.612T= c.1-88679T= (n.1-88679T=) c.248T= (p.Leu83=) c.332T= (p.Leu111=)
5	g.36975900A>C	CA359483316	NIPBL	c.993A>C (p.Leu331Phe) n.613A>C c.1-88678A>C (n.1-88678A>C) c.249A>C (p.Leu83Phe) c.333A>C (p.Leu111Phe)
5	g.36975900A>G	CA444095060	NIPBL	c.993A>G (p.Leu331=) n.613A>G c.1-88678A>G (n.1-88678A>G) c.249A>G (p.Leu83=) c.333A>G (p.Leu111=)
5	g.36975900A>T	CA359483320	NIPBL	c.993A>T (p.Leu331Phe) n.613A>T c.1-88678A>T (n.1-88678A>T) c.249A>T (p.Leu83Phe) c.333A>T (p.Leu111Phe)
5	g.36975901G>A	CA359483329	NIPBL	c.994G>A (p.Gly332Ser) n.614G>A c.1-88677G>A (n.1-88677G>A) c.250G>A (p.Gly84Ser) c.334G>A (p.Gly112Ser)	gnomAD v4
5	g.36975901G>C	CA359483333	NIPBL	c.994G>C (p.Gly332Arg) n.614G>C c.1-88677G>C (n.1-88677G>C) c.250G>C (p.Gly84Arg) c.334G>C (p.Gly112Arg)
5	g.36975901G>T	CA359483344	NIPBL	c.994G>T (p.Gly332Cys) n.614G>T c.1-88677G>T (n.1-88677G>T) c.250G>T (p.Gly84Cys) c.334G>T (p.Gly112Cys)
5	g.36975902G>A	CA359483347	NIPBL	c.995G>A (p.Gly332Asp) n.615G>A c.1-88676G>A (n.1-88676G>A) c.251G>A (p.Gly84Asp) c.335G>A (p.Gly112Asp)
5	g.36975902G>C	CA359483355	NIPBL	c.995G>C (p.Gly332Ala) n.615G>C c.1-88676G>C (n.1-88676G>C) c.251G>C (p.Gly84Ala) c.335G>C (p.Gly112Ala)
5	g.36975902G>T	CA359483360	NIPBL	c.995G>T (p.Gly332Val) n.615G>T c.1-88676G>T (n.1-88676G>T) c.251G>T (p.Gly84Val) c.335G>T (p.Gly112Val)
5	g.36975903C>A	CA444095086	NIPBL	c.996C>A (p.Gly332=) n.616C>A c.1-88675C>A (n.1-88675C>A) c.252C>A (p.Gly84=) c.336C>A (p.Gly112=)	gnomAD v4
5	g.36975903C>G	CA444095087	NIPBL	c.996C>G (p.Gly332=) n.616C>G c.1-88675C>G (n.1-88675C>G) c.252C>G (p.Gly84=) c.336C>G (p.Gly112=)
5	g.36975903C>T	CA444095089	NIPBL	c.996C>T (p.Gly332=) n.616C>T c.1-88675C>T (n.1-88675C>T) c.252C>T (p.Gly84=) c.336C>T (p.Gly112=)
5	g.36975903_36975913delinsCAAGGATGAAA	CA1539569051	NIPBL	c.996_1006delinsCAAGGATGAAA (p.Gly332=) n.616_626delinsCAAGGATGAAA c.1-88675_1-88665delinsCAAGGATGAAA (n.1-88675_1-88665delinsCAAGGATGAAA) c.252_262delinsCAAGGATGAAA (p.Gly84=) c.336_346delinsCAAGGATGAAA (p.Gly112=)
5	g.36975904A>C	CA359483365	NIPBL	c.997A>C (p.Lys333Gln) n.617A>C c.1-88674A>C (n.1-88674A>C) c.253A>C (p.Lys85Gln) c.337A>C (p.Lys113Gln)
5	g.36975904A>G	CA359483364	NIPBL	c.997A>G (p.Lys333Glu) n.617A>G c.1-88674A>G (n.1-88674A>G) c.253A>G (p.Lys85Glu) c.337A>G (p.Lys113Glu)
5	g.36975904A>T	CA359483363	NIPBL	c.997A>T (p.Lys333Ter) n.617A>T c.1-88674A>T (n.1-88674A>T) c.253A>T (p.Lys85Ter) c.337A>T (p.Lys113Ter)
5	g.36975905del	CA2695204301	NIPBL	c.998del (p.Lys333ArgfsTer15) n.618del c.1-88673del (n.1-88673del) c.254del (p.Lys85ArgfsTer15) c.338del (p.Lys113ArgfsTer15)
5	g.36975907_36975916del	CA1139655869	NIPBL	c.1000_1009del (p.Asp334SerfsTer11) n.620_629del c.1-88671_1-88662del (n.1-88671_1-88662del) c.256_265del (p.Asp86SerfsTer11) c.340_349del (p.Asp114SerfsTer11)	ClinVar dbSNP
5	g.36975905A>C	CA359483367	NIPBL	c.998A>C (p.Lys333Thr) n.618A>C c.1-88673A>C (n.1-88673A>C) c.254A>C (p.Lys85Thr) c.338A>C (p.Lys113Thr)
5	g.36975905A>G	CA359483369	NIPBL	c.998A>G (p.Lys333Arg) n.618A>G c.1-88673A>G (n.1-88673A>G) c.254A>G (p.Lys85Arg) c.338A>G (p.Lys113Arg)
5	g.36975905A>T	CA359483388	NIPBL	c.998A>T (p.Lys333Met) n.618A>T c.1-88673A>T (n.1-88673A>T) c.254A>T (p.Lys85Met) c.338A>T (p.Lys113Met)	COSMIC COSMIC
5	g.36975906G>A	CA444095098	NIPBL	c.999G>A (p.Lys333=) n.619G>A c.1-88672G>A (n.1-88672G>A) c.255G>A (p.Lys85=) c.339G>A (p.Lys113=)	gnomAD v4
5	g.36975906G>C	CA359483405	NIPBL	c.999G>C (p.Lys333Asn) n.619G>C c.1-88672G>C (n.1-88672G>C) c.255G>C (p.Lys85Asn) c.339G>C (p.Lys113Asn)	dbSNP gnomAD v4
5	g.36975906G=	CA1539569058	NIPBL	c.999G= (p.Lys333=) n.619G= c.1-88672G= (n.1-88672G=) c.255G= (p.Lys85=) c.339G= (p.Lys113=)
5	g.36975906G>T	CA359483406	NIPBL	c.999G>T (p.Lys333Asn) n.619G>T c.1-88672G>T (n.1-88672G>T) c.255G>T (p.Lys85Asn) c.339G>T (p.Lys113Asn)	COSMIC COSMIC
5	g.36975907G>A	CA359483407	NIPBL	c.1000G>A (p.Asp334Asn) n.620G>A c.1-88671G>A (n.1-88671G>A) c.256G>A (p.Asp86Asn) c.340G>A (p.Asp114Asn)
5	g.36975907G>C	CA359483409	NIPBL	c.1000G>C (p.Asp334His) n.620G>C c.1-88671G>C (n.1-88671G>C) c.256G>C (p.Asp86His) c.340G>C (p.Asp114His)
5	g.36975907G>T	CA359483410	NIPBL	c.1000G>T (p.Asp334Tyr) n.620G>T c.1-88671G>T (n.1-88671G>T) c.256G>T (p.Asp86Tyr) c.340G>T (p.Asp114Tyr)
5	g.36975908A>C	CA359483415	NIPBL	c.1001A>C (p.Asp334Ala) n.621A>C c.1-88670A>C (n.1-88670A>C) c.257A>C (p.Asp86Ala) c.341A>C (p.Asp114Ala)	ClinVar
5	g.36975908A>G	CA359483417	NIPBL	c.1001A>G (p.Asp334Gly) n.621A>G c.1-88670A>G (n.1-88670A>G) c.257A>G (p.Asp86Gly) c.341A>G (p.Asp114Gly)
5	g.36975908A>T	CA359483419	NIPBL	c.1001A>T (p.Asp334Val) n.621A>T c.1-88670A>T (n.1-88670A>T) c.257A>T (p.Asp86Val) c.341A>T (p.Asp114Val)
5	g.36975909T>A	CA359483421	NIPBL	c.1002T>A (p.Asp334Glu) n.622T>A c.1-88669T>A (n.1-88669T>A) c.258T>A (p.Asp86Glu) c.342T>A (p.Asp114Glu)	dbSNP gnomAD v2 gnomAD v4
5	g.36975909T>C	CA444095100	NIPBL	c.1002T>C (p.Asp334=) n.622T>C c.1-88669T>C (n.1-88669T>C) c.258T>C (p.Asp86=) c.342T>C (p.Asp114=)
5	g.36975909T>G	CA359483423	NIPBL	c.1002T>G (p.Asp334Glu) n.622T>G c.1-88669T>G (n.1-88669T>G) c.258T>G (p.Asp86Glu) c.342T>G (p.Asp114Glu)
5	g.36975909T=	CA1539569073	NIPBL	c.1002T= (p.Asp334=) n.622T= c.1-88669T= (n.1-88669T=) c.258T= (p.Asp86=) c.342T= (p.Asp114=)
5	g.36975909_36975910delinsTG	CA1539569070	NIPBL	c.1002_1003delinsTG (p.Asp334=) n.622_623delinsTG c.1-88669_1-88668delinsTG (n.1-88669_1-88668delinsTG) c.258_259delinsTG (p.Asp86=) c.342_343delinsTG (p.Asp114=)
5	g.36975910del	CA271955	NIPBL	c.1003del (p.Glu335LysfsTer13) n.623del c.1-88668del (n.1-88668del) c.259del (p.Glu87LysfsTer13) c.343del (p.Glu115LysfsTer13)	ClinVar dbSNP
5	g.36975910G>A	CA359483437	NIPBL	c.1003G>A (p.Glu335Lys) n.623G>A c.1-88668G>A (n.1-88668G>A) c.259G>A (p.Glu87Lys) c.343G>A (p.Glu115Lys)
5	g.36975910G>C	CA3235976	NIPBL	c.1003G>C (p.Glu335Gln) n.623G>C c.1-88668G>C (n.1-88668G>C) c.259G>C (p.Glu87Gln) c.343G>C (p.Glu115Gln)	dbSNP ExAC gnomAD v2 gnomAD v4
5	g.36975910G=	CA1539569080	NIPBL	c.1003G= (p.Glu335=) n.623G= c.1-88668G= (n.1-88668G=) c.259G= (p.Glu87=) c.343G= (p.Glu115=)
5	g.36975910G>T	CA359483429	NIPBL	c.1003G>T (p.Glu335Ter) n.623G>T c.1-88668G>T (n.1-88668G>T) c.259G>T (p.Glu87Ter) c.343G>T (p.Glu115Ter)
5	g.36975911A=	CA1539569082	NIPBL	c.1004A= (p.Glu335=) n.624A= c.1-88667A= (n.1-88667A=) c.260A= (p.Glu87=) c.344A= (p.Glu115=)

Number of alleles fetched