Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
5	g.36976008T>A	CA444095424	NIPBL	c.1101T>A (p.Ser367=) n.721T>A c.1-88570T>A (n.1-88570T>A) c.357T>A (p.Ser119=) c.441T>A (p.Ser147=)
5	g.36976008T>C	CA444095425	NIPBL	c.1101T>C (p.Ser367=) n.721T>C c.1-88570T>C (n.1-88570T>C) c.357T>C (p.Ser119=) c.441T>C (p.Ser147=)	dbSNP
5	g.36976008T>G	CA444095426	NIPBL	c.1101T>G (p.Ser367=) n.721T>G c.1-88570T>G (n.1-88570T>G) c.357T>G (p.Ser119=) c.441T>G (p.Ser147=)	dbSNP gnomAD v4
5	g.36976008T=	CA1539569219	NIPBL	c.1101T= (p.Ser367=) n.721T= c.1-88570T= (n.1-88570T=) c.357T= (p.Ser119=) c.441T= (p.Ser147=)
5	g.36976009T>A	CA359484251	NIPBL	c.1102T>A (p.Ser368Thr) n.722T>A c.1-88569T>A (n.1-88569T>A) c.358T>A (p.Ser120Thr) c.442T>A (p.Ser148Thr)
5	g.36976009T>C	CA359484253	NIPBL	c.1102T>C (p.Ser368Pro) n.722T>C c.1-88569T>C (n.1-88569T>C) c.358T>C (p.Ser120Pro) c.442T>C (p.Ser148Pro)
5	g.36976009T>G	CA359484256	NIPBL	c.1102T>G (p.Ser368Ala) n.722T>G c.1-88569T>G (n.1-88569T>G) c.358T>G (p.Ser120Ala) c.442T>G (p.Ser148Ala)
5	g.36976010C>A	CA359484261	NIPBL	c.1103C>A (p.Ser368Ter) n.723C>A c.1-88568C>A (n.1-88568C>A) c.359C>A (p.Ser120Ter) c.443C>A (p.Ser148Ter)
5	g.36976010C>G	CA359484257	NIPBL	c.1103C>G (p.Ser368Ter) n.723C>G c.1-88568C>G (n.1-88568C>G) c.359C>G (p.Ser120Ter) c.443C>G (p.Ser148Ter)
5	g.36976010C>T	CA359484259	NIPBL	c.1103C>T (p.Ser368Leu) n.723C>T c.1-88568C>T (n.1-88568C>T) c.359C>T (p.Ser120Leu) c.443C>T (p.Ser148Leu)
5	g.36976011A=	CA1539569223	NIPBL	c.1104A= (p.Ser368=) n.724A= c.1-88567A= (n.1-88567A=) c.360A= (p.Ser120=) c.444A= (p.Ser148=)
5	g.36976011A>C	CA3235981	NIPBL	c.1104A>C (p.Ser368=) n.724A>C c.1-88567A>C (n.1-88567A>C) c.360A>C (p.Ser120=) c.444A>C (p.Ser148=)	dbSNP ExAC
5	g.36976011A>G	CA444095433	NIPBL	c.1104A>G (p.Ser368=) n.724A>G c.1-88567A>G (n.1-88567A>G) c.360A>G (p.Ser120=) c.444A>G (p.Ser148=)
5	g.36976011A>T	CA444095434	NIPBL	c.1104A>T (p.Ser368=) n.724A>T c.1-88567A>T (n.1-88567A>T) c.360A>T (p.Ser120=) c.444A>T (p.Ser148=)
5	g.36976012G>A	CA359484266	NIPBL	c.1105G>A (p.Asp369Asn) n.725G>A c.1-88566G>A (n.1-88566G>A) c.361G>A (p.Asp121Asn) c.445G>A (p.Asp149Asn)	COSMIC COSMIC
5	g.36976012G>C	CA359484269	NIPBL	c.1105G>C (p.Asp369His) n.725G>C c.1-88566G>C (n.1-88566G>C) c.361G>C (p.Asp121His) c.445G>C (p.Asp149His)	gnomAD v4
5	g.36976012G>T	CA359484272	NIPBL	c.1105G>T (p.Asp369Tyr) n.725G>T c.1-88566G>T (n.1-88566G>T) c.361G>T (p.Asp121Tyr) c.445G>T (p.Asp149Tyr)
5	g.36976013A=	CA1539569225	NIPBL	c.1106A= (p.Asp369=) n.726A= c.1-88565A= (n.1-88565A=) c.362A= (p.Asp121=) c.446A= (p.Asp149=)
5	g.36976013A>C	CA359484283	NIPBL	c.1106A>C (p.Asp369Ala) n.726A>C c.1-88565A>C (n.1-88565A>C) c.362A>C (p.Asp121Ala) c.446A>C (p.Asp149Ala)
5	g.36976013A>G	CA359484287	NIPBL	c.1106A>G (p.Asp369Gly) n.726A>G c.1-88565A>G (n.1-88565A>G) c.362A>G (p.Asp121Gly) c.446A>G (p.Asp149Gly)	dbSNP gnomAD v4
5	g.36976013A>T	CA359484293	NIPBL	c.1106A>T (p.Asp369Val) n.726A>T c.1-88565A>T (n.1-88565A>T) c.362A>T (p.Asp121Val) c.446A>T (p.Asp149Val)
5	g.36976014C>A	CA359484302	NIPBL	c.1107C>A (p.Asp369Glu) n.727C>A c.1-88564C>A (n.1-88564C>A) c.363C>A (p.Asp121Glu) c.447C>A (p.Asp149Glu)
5	g.36976014C=	CA1539569230	NIPBL	c.1107C= (p.Asp369=) n.727C= c.1-88564C= (n.1-88564C=) c.363C= (p.Asp121=) c.447C= (p.Asp149=)
5	g.36976014C>G	CA359484310	NIPBL	c.1107C>G (p.Asp369Glu) n.727C>G c.1-88564C>G (n.1-88564C>G) c.363C>G (p.Asp121Glu) c.447C>G (p.Asp149Glu)
5	g.36976014C>T	CA3235982	NIPBL	c.1107C>T (p.Asp369=) n.727C>T c.1-88564C>T (n.1-88564C>T) c.363C>T (p.Asp121=) c.447C>T (p.Asp149=)	dbSNP ExAC gnomAD v2 gnomAD v4
5	g.36976015A=	CA1539569234	NIPBL	c.1108A= (p.Met370=) n.728A= c.1-88563A= (n.1-88563A=) c.364A= (p.Met122=) c.448A= (p.Met150=)
5	g.36976015A>C	CA359484319	NIPBL	c.1108A>C (p.Met370Leu) n.728A>C c.1-88563A>C (n.1-88563A>C) c.364A>C (p.Met122Leu) c.448A>C (p.Met150Leu)
5	g.36976015A>G	CA3235983	NIPBL	c.1108A>G (p.Met370Val) n.728A>G c.1-88563A>G (n.1-88563A>G) c.364A>G (p.Met122Val) c.448A>G (p.Met150Val)	dbSNP ExAC gnomAD v2 gnomAD v4
5	g.36976015A>T	CA359484325	NIPBL	c.1108A>T (p.Met370Leu) n.728A>T c.1-88563A>T (n.1-88563A>T) c.364A>T (p.Met122Leu) c.448A>T (p.Met150Leu)
5	g.36976016T>A	CA359484331	NIPBL	c.1109T>A (p.Met370Lys) n.729T>A c.1-88562T>A (n.1-88562T>A) c.365T>A (p.Met122Lys) c.449T>A (p.Met150Lys)
5	g.36976016T>C	CA359484338	NIPBL	c.1109T>C (p.Met370Thr) n.729T>C c.1-88562T>C (n.1-88562T>C) c.365T>C (p.Met122Thr) c.449T>C (p.Met150Thr)
5	g.36976016T>G	CA359484336	NIPBL	c.1109T>G (p.Met370Arg) n.729T>G c.1-88562T>G (n.1-88562T>G) c.365T>G (p.Met122Arg) c.449T>G (p.Met150Arg)
5	g.36976017G>A	CA359484345	NIPBL	c.1110G>A (p.Met370Ile) n.730G>A c.1-88561G>A (n.1-88561G>A) c.366G>A (p.Met122Ile) c.450G>A (p.Met150Ile)
5	g.36976017G>C	CA359484353	NIPBL	c.1110G>C (p.Met370Ile) n.730G>C c.1-88561G>C (n.1-88561G>C) c.366G>C (p.Met122Ile) c.450G>C (p.Met150Ile)
5	g.36976017G>T	CA359484355	NIPBL	c.1110G>T (p.Met370Ile) n.730G>T c.1-88561G>T (n.1-88561G>T) c.366G>T (p.Met122Ile) c.450G>T (p.Met150Ile)
5	g.36976018G>A	CA3235984	NIPBL	c.1111G>A (p.Asp371Asn) n.731G>A c.1-88560G>A (n.1-88560G>A) c.367G>A (p.Asp123Asn) c.451G>A (p.Asp151Asn)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5	g.36976018G>C	CA359484359	NIPBL	c.1111G>C (p.Asp371His) n.731G>C c.1-88560G>C (n.1-88560G>C) c.367G>C (p.Asp123His) c.451G>C (p.Asp151His)
5	g.36976018G=	CA1539569238	NIPBL	c.1111G= (p.Asp371=) n.731G= c.1-88560G= (n.1-88560G=) c.367G= (p.Asp123=) c.451G= (p.Asp151=)
5	g.36976018G>T	CA359484363	NIPBL	c.1111G>T (p.Asp371Tyr) n.731G>T c.1-88560G>T (n.1-88560G>T) c.367G>T (p.Asp123Tyr) c.451G>T (p.Asp151Tyr)
5	g.36976019A>C	CA359484376	NIPBL	c.1112A>C (p.Asp371Ala) n.732A>C c.1-88559A>C (n.1-88559A>C) c.368A>C (p.Asp123Ala) c.452A>C (p.Asp151Ala)
5	g.36976019A>G	CA359484372	NIPBL	c.1112A>G (p.Asp371Gly) n.732A>G c.1-88559A>G (n.1-88559A>G) c.368A>G (p.Asp123Gly) c.452A>G (p.Asp151Gly)
5	g.36976019A>T	CA359484373	NIPBL	c.1112A>T (p.Asp371Val) n.732A>T c.1-88559A>T (n.1-88559A>T) c.368A>T (p.Asp123Val) c.452A>T (p.Asp151Val)
5	g.36976020C>A	CA359484377	NIPBL	c.1113C>A (p.Asp371Glu) n.733C>A c.1-88558C>A (n.1-88558C>A) c.369C>A (p.Asp123Glu) c.453C>A (p.Asp151Glu)
5	g.36976020C>G	CA359484378	NIPBL	c.1113C>G (p.Asp371Glu) n.733C>G c.1-88558C>G (n.1-88558C>G) c.369C>G (p.Asp123Glu) c.453C>G (p.Asp151Glu)
5	g.36976020C>T	CA444095456	NIPBL	c.1113C>T (p.Asp371=) n.733C>T c.1-88558C>T (n.1-88558C>T) c.369C>T (p.Asp123=) c.453C>T (p.Asp151=)	gnomAD v4
5	g.36976021C>A	CA359484379	NIPBL	c.1114C>A (p.Gln372Lys) n.734C>A c.1-88557C>A (n.1-88557C>A) c.370C>A (p.Gln124Lys) c.454C>A (p.Gln152Lys)
5	g.36976021C>G	CA359484381	NIPBL	c.1114C>G (p.Gln372Glu) n.734C>G c.1-88557C>G (n.1-88557C>G) c.370C>G (p.Gln124Glu) c.454C>G (p.Gln152Glu)
5	g.36976021C>T	CA359484382	NIPBL	c.1114C>T (p.Gln372Ter) n.734C>T c.1-88557C>T (n.1-88557C>T) c.370C>T (p.Gln124Ter) c.454C>T (p.Gln152Ter)
5	g.36976022A>C	CA359484383	NIPBL	c.1115A>C (p.Gln372Pro) n.735A>C c.1-88556A>C (n.1-88556A>C) c.371A>C (p.Gln124Pro) c.455A>C (p.Gln152Pro)
5	g.36976022A>G	CA359484386	NIPBL	c.1115A>G (p.Gln372Arg) n.735A>G c.1-88556A>G (n.1-88556A>G) c.371A>G (p.Gln124Arg) c.455A>G (p.Gln152Arg)

Number of alleles fetched