Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
5	g.37052262_37052317del	CA2673575731	NIPBL	c.7063-104_7063-49del (n.7063-104_7063-49del) n.945-104_945-49del c.1-12316_1-12261del (n.1-12316_1-12261del) c.6319-104_6319-49del (n.6319-104_6319-49del) c.6865-104_6865-49del (n.6865-104_6865-49del) c.6682-104_6682-49del (n.6682-104_6682-49del) c.6403-104_6403-49del (n.6403-104_6403-49del) c.5446-104_5446-49del (n.5446-104_5446-49del) c.5437-104_5437-49del (n.5437-104_5437-49del)	gnomAD v4
5	g.37052313_37052318del	CA2673575760	NIPBL	c.7063-53_7063-48del (n.7063-53_7063-48del) n.945-53_945-48del c.1-12265_1-12260del (n.1-12265_1-12260del) c.6319-53_6319-48del (n.6319-53_6319-48del) c.6865-53_6865-48del (n.6865-53_6865-48del) c.6682-53_6682-48del (n.6682-53_6682-48del) c.6403-53_6403-48del (n.6403-53_6403-48del) c.5446-53_5446-48del (n.5446-53_5446-48del) c.5437-53_5437-48del (n.5437-53_5437-48del)	gnomAD v4
5	g.37052314A>T	CA2765899961	NIPBL	c.7063-52A>T (n.7063-52A>T) n.945-52A>T c.1-12264A>T (n.1-12264A>T) c.6319-52A>T (n.6319-52A>T) c.6865-52A>T (n.6865-52A>T) c.6682-52A>T (n.6682-52A>T) c.6403-52A>T (n.6403-52A>T) c.5446-52A>T (n.5446-52A>T) c.5437-52A>T (n.5437-52A>T)
5	g.37052315A>T	CA2765899962	NIPBL	c.7063-51A>T (n.7063-51A>T) n.945-51A>T c.1-12263A>T (n.1-12263A>T) c.6319-51A>T (n.6319-51A>T) c.6865-51A>T (n.6865-51A>T) c.6682-51A>T (n.6682-51A>T) c.6403-51A>T (n.6403-51A>T) c.5446-51A>T (n.5446-51A>T) c.5437-51A>T (n.5437-51A>T)
5	g.37052316T>A	CA2673575761	NIPBL	c.7063-50T>A (n.7063-50T>A) n.945-50T>A c.1-12262T>A (n.1-12262T>A) c.6319-50T>A (n.6319-50T>A) c.6865-50T>A (n.6865-50T>A) c.6682-50T>A (n.6682-50T>A) c.6403-50T>A (n.6403-50T>A) c.5446-50T>A (n.5446-50T>A) c.5437-50T>A (n.5437-50T>A)	gnomAD v4
5	g.37052317T>G	CA2673575762	NIPBL	c.7063-49T>G (n.7063-49T>G) n.945-49T>G c.1-12261T>G (n.1-12261T>G) c.6319-49T>G (n.6319-49T>G) c.6865-49T>G (n.6865-49T>G) c.6682-49T>G (n.6682-49T>G) c.6403-49T>G (n.6403-49T>G) c.5446-49T>G (n.5446-49T>G) c.5437-49T>G (n.5437-49T>G)	gnomAD v4
5	g.37052320T>A	CA3237127	NIPBL	c.7063-46T>A (n.7063-46T>A) n.945-46T>A c.1-12258T>A (n.1-12258T>A) c.6319-46T>A (n.6319-46T>A) c.6865-46T>A (n.6865-46T>A) c.6682-46T>A (n.6682-46T>A) c.6403-46T>A (n.6403-46T>A) c.5446-46T>A (n.5446-46T>A) c.5437-46T>A (n.5437-46T>A)	dbSNP ExAC gnomAD v2 gnomAD v4
5	g.37052320T>C	CA2578289846	NIPBL	c.7063-46T>C (n.7063-46T>C) n.945-46T>C c.1-12258T>C (n.1-12258T>C) c.6319-46T>C (n.6319-46T>C) c.6865-46T>C (n.6865-46T>C) c.6682-46T>C (n.6682-46T>C) c.6403-46T>C (n.6403-46T>C) c.5446-46T>C (n.5446-46T>C) c.5437-46T>C (n.5437-46T>C)	gnomAD v4
5	g.37052320T>G	CA2578289847	NIPBL	c.7063-46T>G (n.7063-46T>G) n.945-46T>G c.1-12258T>G (n.1-12258T>G) c.6319-46T>G (n.6319-46T>G) c.6865-46T>G (n.6865-46T>G) c.6682-46T>G (n.6682-46T>G) c.6403-46T>G (n.6403-46T>G) c.5446-46T>G (n.5446-46T>G) c.5437-46T>G (n.5437-46T>G)
5	g.37052320T=	CA1539572006	NIPBL	c.7063-46T= (n.7063-46T=) n.945-46T= c.1-12258T= (n.1-12258T=) c.6319-46T= (n.6319-46T=) c.6865-46T= (n.6865-46T=) c.6682-46T= (n.6682-46T=) c.6403-46T= (n.6403-46T=) c.5446-46T= (n.5446-46T=) c.5437-46T= (n.5437-46T=)
5	g.37052321G>A	CA559022433	NIPBL	c.7063-45G>A (n.7063-45G>A) n.945-45G>A c.1-12257G>A (n.1-12257G>A) c.6319-45G>A (n.6319-45G>A) c.6865-45G>A (n.6865-45G>A) c.6682-45G>A (n.6682-45G>A) c.6403-45G>A (n.6403-45G>A) c.5446-45G>A (n.5446-45G>A) c.5437-45G>A (n.5437-45G>A)	dbSNP gnomAD v2
5	g.37052321G>C	CA2578289849	NIPBL	c.7063-45G>C (n.7063-45G>C) n.945-45G>C c.1-12257G>C (n.1-12257G>C) c.6319-45G>C (n.6319-45G>C) c.6865-45G>C (n.6865-45G>C) c.6682-45G>C (n.6682-45G>C) c.6403-45G>C (n.6403-45G>C) c.5446-45G>C (n.5446-45G>C) c.5437-45G>C (n.5437-45G>C)
5	g.37052321G=	CA1539572008	NIPBL	c.7063-45G= (n.7063-45G=) n.945-45G= c.1-12257G= (n.1-12257G=) c.6319-45G= (n.6319-45G=) c.6865-45G= (n.6865-45G=) c.6682-45G= (n.6682-45G=) c.6403-45G= (n.6403-45G=) c.5446-45G= (n.5446-45G=) c.5437-45G= (n.5437-45G=)
5	g.37052322T>C	CA2673575763	NIPBL	c.7063-44T>C (n.7063-44T>C) n.945-44T>C c.1-12256T>C (n.1-12256T>C) c.6319-44T>C (n.6319-44T>C) c.6865-44T>C (n.6865-44T>C) c.6682-44T>C (n.6682-44T>C) c.6403-44T>C (n.6403-44T>C) c.5446-44T>C (n.5446-44T>C) c.5437-44T>C (n.5437-44T>C)	gnomAD v4
5	g.37052323C>A	CA2578289850	NIPBL	c.7063-43C>A (n.7063-43C>A) n.945-43C>A c.1-12255C>A (n.1-12255C>A) c.6319-43C>A (n.6319-43C>A) c.6865-43C>A (n.6865-43C>A) c.6682-43C>A (n.6682-43C>A) c.6403-43C>A (n.6403-43C>A) c.5446-43C>A (n.5446-43C>A) c.5437-43C>A (n.5437-43C>A)	gnomAD v4
5	g.37052323_37052325delinsCTT	CA1539572009	NIPBL	c.7063-43_7063-41delinsCTT (n.7063-43_7063-41delinsCTT) n.945-43_945-41delinsCTT c.1-12255_1-12253delinsCTT (n.1-12255_1-12253delinsCTT) c.6319-43_6319-41delinsCTT (n.6319-43_6319-41delinsCTT) c.6865-43_6865-41delinsCTT (n.6865-43_6865-41delinsCTT) c.6682-43_6682-41delinsCTT (n.6682-43_6682-41delinsCTT) c.6403-43_6403-41delinsCTT (n.6403-43_6403-41delinsCTT) c.5446-43_5446-41delinsCTT (n.5446-43_5446-41delinsCTT) c.5437-43_5437-41delinsCTT (n.5437-43_5437-41delinsCTT)
5	g.37052325_37052327dup	CA2673575764	NIPBL	c.7063-41_7063-39dup (n.7063-41_7063-39dup) n.945-41_945-39dup c.1-12253_1-12251dup (n.1-12253_1-12251dup) c.6319-41_6319-39dup (n.6319-41_6319-39dup) c.6865-41_6865-39dup (n.6865-41_6865-39dup) c.6682-41_6682-39dup (n.6682-41_6682-39dup) c.6403-41_6403-39dup (n.6403-41_6403-39dup) c.5446-41_5446-39dup (n.5446-41_5446-39dup) c.5437-41_5437-39dup (n.5437-41_5437-39dup)	gnomAD v4
5	g.37052327del	CA2673575765	NIPBL	c.7063-39del (n.7063-39del) n.945-39del c.1-12251del (n.1-12251del) c.6319-39del (n.6319-39del) c.6865-39del (n.6865-39del) c.6682-39del (n.6682-39del) c.6403-39del (n.6403-39del) c.5446-39del (n.5446-39del) c.5437-39del (n.5437-39del)	gnomAD v4
5	g.37052326_37052327del	CA3237128	NIPBL	c.7063-40_7063-39del (n.7063-40_7063-39del) n.945-40_945-39del c.1-12252_1-12251del (n.1-12252_1-12251del) c.6319-40_6319-39del (n.6319-40_6319-39del) c.6865-40_6865-39del (n.6865-40_6865-39del) c.6682-40_6682-39del (n.6682-40_6682-39del) c.6403-40_6403-39del (n.6403-40_6403-39del) c.5446-40_5446-39del (n.5446-40_5446-39del) c.5437-40_5437-39del (n.5437-40_5437-39del)	dbSNP ExAC gnomAD v2 gnomAD v4
5	g.37052325T>C	CA3237129	NIPBL	c.7063-41T>C (n.7063-41T>C) n.945-41T>C c.1-12253T>C (n.1-12253T>C) c.6319-41T>C (n.6319-41T>C) c.6865-41T>C (n.6865-41T>C) c.6682-41T>C (n.6682-41T>C) c.6403-41T>C (n.6403-41T>C) c.5446-41T>C (n.5446-41T>C) c.5437-41T>C (n.5437-41T>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5	g.37052325T=	CA1539572013	NIPBL	c.7063-41T= (n.7063-41T=) n.945-41T= c.1-12253T= (n.1-12253T=) c.6319-41T= (n.6319-41T=) c.6865-41T= (n.6865-41T=) c.6682-41T= (n.6682-41T=) c.6403-41T= (n.6403-41T=) c.5446-41T= (n.5446-41T=) c.5437-41T= (n.5437-41T=)
5	g.37052326T>C	CA3237130	NIPBL	c.7063-40T>C (n.7063-40T>C) n.945-40T>C c.1-12252T>C (n.1-12252T>C) c.6319-40T>C (n.6319-40T>C) c.6865-40T>C (n.6865-40T>C) c.6682-40T>C (n.6682-40T>C) c.6403-40T>C (n.6403-40T>C) c.5446-40T>C (n.5446-40T>C) c.5437-40T>C (n.5437-40T>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5	g.37052326T=	CA1539572017	NIPBL	c.7063-40T= (n.7063-40T=) n.945-40T= c.1-12252T= (n.1-12252T=) c.6319-40T= (n.6319-40T=) c.6865-40T= (n.6865-40T=) c.6682-40T= (n.6682-40T=) c.6403-40T= (n.6403-40T=) c.5446-40T= (n.5446-40T=) c.5437-40T= (n.5437-40T=)
5	g.37052328A=	CA1539572019	NIPBL	c.7063-38A= (n.7063-38A=) n.945-38A= c.1-12250A= (n.1-12250A=) c.6319-38A= (n.6319-38A=) c.6865-38A= (n.6865-38A=) c.6682-38A= (n.6682-38A=) c.6403-38A= (n.6403-38A=) c.5446-38A= (n.5446-38A=) c.5437-38A= (n.5437-38A=)
5	g.37052328A>T	CA3237131	NIPBL	c.7063-38A>T (n.7063-38A>T) n.945-38A>T c.1-12250A>T (n.1-12250A>T) c.6319-38A>T (n.6319-38A>T) c.6865-38A>T (n.6865-38A>T) c.6682-38A>T (n.6682-38A>T) c.6403-38A>T (n.6403-38A>T) c.5446-38A>T (n.5446-38A>T) c.5437-38A>T (n.5437-38A>T)	dbSNP ExAC gnomAD v2 gnomAD v4
5	g.37052329A=	CA1539572022	NIPBL	c.7063-37A= (n.7063-37A=) n.945-37A= c.1-12249A= (n.1-12249A=) c.6319-37A= (n.6319-37A=) c.6865-37A= (n.6865-37A=) c.6682-37A= (n.6682-37A=) c.6403-37A= (n.6403-37A=) c.5446-37A= (n.5446-37A=) c.5437-37A= (n.5437-37A=)
5	g.37052329A>T	CA3237132	NIPBL	c.7063-37A>T (n.7063-37A>T) n.945-37A>T c.1-12249A>T (n.1-12249A>T) c.6319-37A>T (n.6319-37A>T) c.6865-37A>T (n.6865-37A>T) c.6682-37A>T (n.6682-37A>T) c.6403-37A>T (n.6403-37A>T) c.5446-37A>T (n.5446-37A>T) c.5437-37A>T (n.5437-37A>T)	dbSNP ExAC
5	g.37052331T>A	CA2673575766	NIPBL	c.7063-35T>A (n.7063-35T>A) n.945-35T>A c.1-12247T>A (n.1-12247T>A) c.6319-35T>A (n.6319-35T>A) c.6865-35T>A (n.6865-35T>A) c.6682-35T>A (n.6682-35T>A) c.6403-35T>A (n.6403-35T>A) c.5446-35T>A (n.5446-35T>A) c.5437-35T>A (n.5437-35T>A)	gnomAD v4
5	g.37052332T>G	CA3237133	NIPBL	c.7063-34T>G (n.7063-34T>G) n.945-34T>G c.1-12246T>G (n.1-12246T>G) c.6319-34T>G (n.6319-34T>G) c.6865-34T>G (n.6865-34T>G) c.6682-34T>G (n.6682-34T>G) c.6403-34T>G (n.6403-34T>G) c.5446-34T>G (n.5446-34T>G) c.5437-34T>G (n.5437-34T>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5	g.37052332T=	CA1539572025	NIPBL	c.7063-34T= (n.7063-34T=) n.945-34T= c.1-12246T= (n.1-12246T=) c.6319-34T= (n.6319-34T=) c.6865-34T= (n.6865-34T=) c.6682-34T= (n.6682-34T=) c.6403-34T= (n.6403-34T=) c.5446-34T= (n.5446-34T=) c.5437-34T= (n.5437-34T=)
5	g.37052333C>A	CA2673575767	NIPBL	c.7063-33C>A (n.7063-33C>A) n.945-33C>A c.1-12245C>A (n.1-12245C>A) c.6319-33C>A (n.6319-33C>A) c.6865-33C>A (n.6865-33C>A) c.6682-33C>A (n.6682-33C>A) c.6403-33C>A (n.6403-33C>A) c.5446-33C>A (n.5446-33C>A) c.5437-33C>A (n.5437-33C>A)	gnomAD v4
5	g.37052334C>A	CA2673575768	NIPBL	c.7063-32C>A (n.7063-32C>A) n.945-32C>A c.1-12244C>A (n.1-12244C>A) c.6319-32C>A (n.6319-32C>A) c.6865-32C>A (n.6865-32C>A) c.6682-32C>A (n.6682-32C>A) c.6403-32C>A (n.6403-32C>A) c.5446-32C>A (n.5446-32C>A) c.5437-32C>A (n.5437-32C>A)	gnomAD v4
5	g.37052334C>T	CA2578289852	NIPBL	c.7063-32C>T (n.7063-32C>T) n.945-32C>T c.1-12244C>T (n.1-12244C>T) c.6319-32C>T (n.6319-32C>T) c.6865-32C>T (n.6865-32C>T) c.6682-32C>T (n.6682-32C>T) c.6403-32C>T (n.6403-32C>T) c.5446-32C>T (n.5446-32C>T) c.5437-32C>T (n.5437-32C>T)	gnomAD v4
5	g.37052334_37052336delinsCCT	CA1539572028	NIPBL	c.7063-32_7063-30delinsCCT (n.7063-32_7063-30delinsCCT) n.945-32_945-30delinsCCT c.1-12244_1-12242delinsCCT (n.1-12244_1-12242delinsCCT) c.6319-32_6319-30delinsCCT (n.6319-32_6319-30delinsCCT) c.6865-32_6865-30delinsCCT (n.6865-32_6865-30delinsCCT) c.6682-32_6682-30delinsCCT (n.6682-32_6682-30delinsCCT) c.6403-32_6403-30delinsCCT (n.6403-32_6403-30delinsCCT) c.5446-32_5446-30delinsCCT (n.5446-32_5446-30delinsCCT) c.5437-32_5437-30delinsCCT (n.5437-32_5437-30delinsCCT)
5	g.37052335C>A	CA2549760286	NIPBL	c.7063-31C>A (n.7063-31C>A) n.945-31C>A c.1-12243C>A (n.1-12243C>A) c.6319-31C>A (n.6319-31C>A) c.6865-31C>A (n.6865-31C>A) c.6682-31C>A (n.6682-31C>A) c.6403-31C>A (n.6403-31C>A) c.5446-31C>A (n.5446-31C>A) c.5437-31C>A (n.5437-31C>A)
5	g.37052335C>G	CA2578289854	NIPBL	c.7063-31C>G (n.7063-31C>G) n.945-31C>G c.1-12243C>G (n.1-12243C>G) c.6319-31C>G (n.6319-31C>G) c.6865-31C>G (n.6865-31C>G) c.6682-31C>G (n.6682-31C>G) c.6403-31C>G (n.6403-31C>G) c.5446-31C>G (n.5446-31C>G) c.5437-31C>G (n.5437-31C>G)	gnomAD v4
5	g.37052335_37052336del	CA917452797	NIPBL	c.7063-31_7063-30del (n.7063-31_7063-30del) n.945-31_945-30del c.1-12243_1-12242del (n.1-12243_1-12242del) c.6319-31_6319-30del (n.6319-31_6319-30del) c.6865-31_6865-30del (n.6865-31_6865-30del) c.6682-31_6682-30del (n.6682-31_6682-30del) c.6403-31_6403-30del (n.6403-31_6403-30del) c.5446-31_5446-30del (n.5446-31_5446-30del) c.5437-31_5437-30del (n.5437-31_5437-30del)	dbSNP gnomAD v3 gnomAD v4
5	g.37052336T>C	CA2673575769	NIPBL	c.7063-30T>C (n.7063-30T>C) n.945-30T>C c.1-12242T>C (n.1-12242T>C) c.6319-30T>C (n.6319-30T>C) c.6865-30T>C (n.6865-30T>C) c.6682-30T>C (n.6682-30T>C) c.6403-30T>C (n.6403-30T>C) c.5446-30T>C (n.5446-30T>C) c.5437-30T>C (n.5437-30T>C)	gnomAD v4
5	g.37052336T>G	CA559295303	NIPBL	c.7063-30T>G (n.7063-30T>G) n.945-30T>G c.1-12242T>G (n.1-12242T>G) c.6319-30T>G (n.6319-30T>G) c.6865-30T>G (n.6865-30T>G) c.6682-30T>G (n.6682-30T>G) c.6403-30T>G (n.6403-30T>G) c.5446-30T>G (n.5446-30T>G) c.5437-30T>G (n.5437-30T>G)	dbSNP gnomAD v2 gnomAD v4
5	g.37052336T=	CA1539572031	NIPBL	c.7063-30T= (n.7063-30T=) n.945-30T= c.1-12242T= (n.1-12242T=) c.6319-30T= (n.6319-30T=) c.6865-30T= (n.6865-30T=) c.6682-30T= (n.6682-30T=) c.6403-30T= (n.6403-30T=) c.5446-30T= (n.5446-30T=) c.5437-30T= (n.5437-30T=)
5	g.37052337G>A	CA2578289855	NIPBL	c.7063-29G>A (n.7063-29G>A) n.945-29G>A c.1-12241G>A (n.1-12241G>A) c.6319-29G>A (n.6319-29G>A) c.6865-29G>A (n.6865-29G>A) c.6682-29G>A (n.6682-29G>A) c.6403-29G>A (n.6403-29G>A) c.5446-29G>A (n.5446-29G>A) c.5437-29G>A (n.5437-29G>A)	gnomAD v4
5	g.37052339C>A	CA2569858251	NIPBL	c.7063-27C>A (n.7063-27C>A) n.945-27C>A c.1-12239C>A (n.1-12239C>A) c.6319-27C>A (n.6319-27C>A) c.6865-27C>A (n.6865-27C>A) c.6682-27C>A (n.6682-27C>A) c.6403-27C>A (n.6403-27C>A) c.5446-27C>A (n.5446-27C>A) c.5437-27C>A (n.5437-27C>A)	gnomAD v4
5	g.37052339C=	CA1539572035	NIPBL	c.7063-27C= (n.7063-27C=) n.945-27C= c.1-12239C= (n.1-12239C=) c.6319-27C= (n.6319-27C=) c.6865-27C= (n.6865-27C=) c.6682-27C= (n.6682-27C=) c.6403-27C= (n.6403-27C=) c.5446-27C= (n.5446-27C=) c.5437-27C= (n.5437-27C=)
5	g.37052339C>T	CA559295304	NIPBL	c.7063-27C>T (n.7063-27C>T) n.945-27C>T c.1-12239C>T (n.1-12239C>T) c.6319-27C>T (n.6319-27C>T) c.6865-27C>T (n.6865-27C>T) c.6682-27C>T (n.6682-27C>T) c.6403-27C>T (n.6403-27C>T) c.5446-27C>T (n.5446-27C>T) c.5437-27C>T (n.5437-27C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5	g.37052340A=	CA1539572038	NIPBL	c.7063-26A= (n.7063-26A=) n.945-26A= c.1-12238A= (n.1-12238A=) c.6319-26A= (n.6319-26A=) c.6865-26A= (n.6865-26A=) c.6682-26A= (n.6682-26A=) c.6403-26A= (n.6403-26A=) c.5446-26A= (n.5446-26A=) c.5437-26A= (n.5437-26A=)
5	g.37052340A>G	CA3237134	NIPBL	c.7063-26A>G (n.7063-26A>G) n.945-26A>G c.1-12238A>G (n.1-12238A>G) c.6319-26A>G (n.6319-26A>G) c.6865-26A>G (n.6865-26A>G) c.6682-26A>G (n.6682-26A>G) c.6403-26A>G (n.6403-26A>G) c.5446-26A>G (n.5446-26A>G) c.5437-26A>G (n.5437-26A>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5	g.37052342A>T	CA2708537471	NIPBL	c.7063-24A>T (n.7063-24A>T) n.945-24A>T c.1-12236A>T (n.1-12236A>T) c.6319-24A>T (n.6319-24A>T) c.6865-24A>T (n.6865-24A>T) c.6682-24A>T (n.6682-24A>T) c.6403-24A>T (n.6403-24A>T) c.5446-24A>T (n.5446-24A>T) c.5437-24A>T (n.5437-24A>T)	dbSNP
5	g.37052345T>C	CA2578289856	NIPBL	c.7063-21T>C (n.7063-21T>C) n.945-21T>C c.1-12233T>C (n.1-12233T>C) c.6319-21T>C (n.6319-21T>C) c.6865-21T>C (n.6865-21T>C) c.6682-21T>C (n.6682-21T>C) c.6403-21T>C (n.6403-21T>C) c.5446-21T>C (n.5446-21T>C) c.5437-21T>C (n.5437-21T>C)
5	g.37052346G>A	CA2542842862	NIPBL	c.7063-20G>A (n.7063-20G>A) n.945-20G>A c.1-12232G>A (n.1-12232G>A) c.6319-20G>A (n.6319-20G>A) c.6865-20G>A (n.6865-20G>A) c.6682-20G>A (n.6682-20G>A) c.6403-20G>A (n.6403-20G>A) c.5446-20G>A (n.5446-20G>A) c.5437-20G>A (n.5437-20G>A)
5	g.37052347A=	CA1539572045	NIPBL	c.7063-19A= (n.7063-19A=) n.945-19A= c.1-12231A= (n.1-12231A=) c.6319-19A= (n.6319-19A=) c.6865-19A= (n.6865-19A=) c.6682-19A= (n.6682-19A=) c.6403-19A= (n.6403-19A=) c.5446-19A= (n.5446-19A=) c.5437-19A= (n.5437-19A=)
5	g.37052347A>T	CA1539572046	NIPBL	c.7063-19A>T (n.7063-19A>T) n.945-19A>T c.1-12231A>T (n.1-12231A>T) c.6319-19A>T (n.6319-19A>T) c.6865-19A>T (n.6865-19A>T) c.6682-19A>T (n.6682-19A>T) c.6403-19A>T (n.6403-19A>T) c.5446-19A>T (n.5446-19A>T) c.5437-19A>T (n.5437-19A>T)	dbSNP gnomAD v4
5	g.37052348G>T	CA2578289857	NIPBL	c.7063-18G>T (n.7063-18G>T) n.945-18G>T c.1-12230G>T (n.1-12230G>T) c.6319-18G>T (n.6319-18G>T) c.6865-18G>T (n.6865-18G>T) c.6682-18G>T (n.6682-18G>T) c.6403-18G>T (n.6403-18G>T) c.5446-18G>T (n.5446-18G>T) c.5437-18G>T (n.5437-18G>T)	gnomAD v4
5	g.37052349A>G	CA2515176715	NIPBL	c.7063-17A>G (n.7063-17A>G) n.945-17A>G c.1-12229A>G (n.1-12229A>G) c.6319-17A>G (n.6319-17A>G) c.6865-17A>G (n.6865-17A>G) c.6682-17A>G (n.6682-17A>G) c.6403-17A>G (n.6403-17A>G) c.5446-17A>G (n.5446-17A>G) c.5437-17A>G (n.5437-17A>G)
5	g.37052350_37052352delinsCTT	CA1539572049	NIPBL	c.7063-16_7063-14delinsCTT (n.7063-16_7063-14delinsCTT) n.945-16_945-14delinsCTT c.1-12228_1-12226delinsCTT (n.1-12228_1-12226delinsCTT) c.6319-16_6319-14delinsCTT (n.6319-16_6319-14delinsCTT) c.6865-16_6865-14delinsCTT (n.6865-16_6865-14delinsCTT) c.6682-16_6682-14delinsCTT (n.6682-16_6682-14delinsCTT) c.6403-16_6403-14delinsCTT (n.6403-16_6403-14delinsCTT) c.5446-16_5446-14delinsCTT (n.5446-16_5446-14delinsCTT) c.5437-16_5437-14delinsCTT (n.5437-16_5437-14delinsCTT)
5	g.37052354dup	CA1539572051	NIPBL	c.7063-12dup (n.7063-12dup) n.945-12dup c.1-12224dup (n.1-12224dup) c.6319-12dup (n.6319-12dup) c.6865-12dup (n.6865-12dup) c.6682-12dup (n.6682-12dup) c.6403-12dup (n.6403-12dup) c.5446-12dup (n.5446-12dup) c.5437-12dup (n.5437-12dup)	dbSNP
5	g.37052354del	CA2578289859	NIPBL	c.7063-12del (n.7063-12del) n.945-12del c.1-12224del (n.1-12224del) c.6319-12del (n.6319-12del) c.6865-12del (n.6865-12del) c.6682-12del (n.6682-12del) c.6403-12del (n.6403-12del) c.5446-12del (n.5446-12del) c.5437-12del (n.5437-12del)	gnomAD v4
5	g.37052353_37052354del	CA1539572050	NIPBL	c.7063-13_7063-12del (n.7063-13_7063-12del) n.945-13_945-12del c.1-12225_1-12224del (n.1-12225_1-12224del) c.6319-13_6319-12del (n.6319-13_6319-12del) c.6865-13_6865-12del (n.6865-13_6865-12del) c.6682-13_6682-12del (n.6682-13_6682-12del) c.6403-13_6403-12del (n.6403-13_6403-12del) c.5446-13_5446-12del (n.5446-13_5446-12del) c.5437-13_5437-12del (n.5437-13_5437-12del)	dbSNP gnomAD v4
5	g.37052353T>C	CA1539572056	NIPBL	c.7063-13T>C (n.7063-13T>C) n.945-13T>C c.1-12225T>C (n.1-12225T>C) c.6319-13T>C (n.6319-13T>C) c.6865-13T>C (n.6865-13T>C) c.6682-13T>C (n.6682-13T>C) c.6403-13T>C (n.6403-13T>C) c.5446-13T>C (n.5446-13T>C) c.5437-13T>C (n.5437-13T>C)	dbSNP gnomAD v4
5	g.37052353T=	CA1539572053	NIPBL	c.7063-13T= (n.7063-13T=) n.945-13T= c.1-12225T= (n.1-12225T=) c.6319-13T= (n.6319-13T=) c.6865-13T= (n.6865-13T=) c.6682-13T= (n.6682-13T=) c.6403-13T= (n.6403-13T=) c.5446-13T= (n.5446-13T=) c.5437-13T= (n.5437-13T=)
5	g.37052354T>C	CA117051421	NIPBL	c.7063-12T>C (n.7063-12T>C) n.945-12T>C c.1-12224T>C (n.1-12224T>C) c.6319-12T>C (n.6319-12T>C) c.6865-12T>C (n.6865-12T>C) c.6682-12T>C (n.6682-12T>C) c.6403-12T>C (n.6403-12T>C) c.5446-12T>C (n.5446-12T>C) c.5437-12T>C (n.5437-12T>C)	dbSNP gnomAD v2 gnomAD v4
5	g.37052354T=	CA1539572061	NIPBL	c.7063-12T= (n.7063-12T=) n.945-12T= c.1-12224T= (n.1-12224T=) c.6319-12T= (n.6319-12T=) c.6865-12T= (n.6865-12T=) c.6682-12T= (n.6682-12T=) c.6403-12T= (n.6403-12T=) c.5446-12T= (n.5446-12T=) c.5437-12T= (n.5437-12T=)
5	g.37052355A=	CA1539572066	NIPBL	c.7063-11A= (n.7063-11A=) n.945-11A= c.1-12223A= (n.1-12223A=) c.6319-11A= (n.6319-11A=) c.6865-11A= (n.6865-11A=) c.6682-11A= (n.6682-11A=) c.6403-11A= (n.6403-11A=) c.5446-11A= (n.5446-11A=) c.5437-11A= (n.5437-11A=)
5	g.37052355A>C	CA3237135	NIPBL	c.7063-11A>C (n.7063-11A>C) n.945-11A>C c.1-12223A>C (n.1-12223A>C) c.6319-11A>C (n.6319-11A>C) c.6865-11A>C (n.6865-11A>C) c.6682-11A>C (n.6682-11A>C) c.6403-11A>C (n.6403-11A>C) c.5446-11A>C (n.5446-11A>C) c.5437-11A>C (n.5437-11A>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5	g.37052355A>G	CA559295305	NIPBL	c.7063-11A>G (n.7063-11A>G) n.945-11A>G c.1-12223A>G (n.1-12223A>G) c.6319-11A>G (n.6319-11A>G) c.6865-11A>G (n.6865-11A>G) c.6682-11A>G (n.6682-11A>G) c.6403-11A>G (n.6403-11A>G) c.5446-11A>G (n.5446-11A>G) c.5437-11A>G (n.5437-11A>G)	dbSNP gnomAD v2 gnomAD v4
5	g.37052355A>T	CA3237136	NIPBL	c.7063-11A>T (n.7063-11A>T) n.945-11A>T c.1-12223A>T (n.1-12223A>T) c.6319-11A>T (n.6319-11A>T) c.6865-11A>T (n.6865-11A>T) c.6682-11A>T (n.6682-11A>T) c.6403-11A>T (n.6403-11A>T) c.5446-11A>T (n.5446-11A>T) c.5437-11A>T (n.5437-11A>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5	g.37052356T>C	CA2765899975	NIPBL	c.7063-10T>C (n.7063-10T>C) n.945-10T>C c.1-12222T>C (n.1-12222T>C) c.6319-10T>C (n.6319-10T>C) c.6865-10T>C (n.6865-10T>C) c.6682-10T>C (n.6682-10T>C) c.6403-10T>C (n.6403-10T>C) c.5446-10T>C (n.5446-10T>C) c.5437-10T>C (n.5437-10T>C)
5	g.37052359A=	CA1539572071	NIPBL	c.7063-7A= (n.7063-7A=) n.945-7A= c.1-12219A= (n.1-12219A=) c.6319-7A= (n.6319-7A=) c.6865-7A= (n.6865-7A=) c.6682-7A= (n.6682-7A=) c.6403-7A= (n.6403-7A=) c.5446-7A= (n.5446-7A=) c.5437-7A= (n.5437-7A=)
5	g.37052359A>T	CA117051439	NIPBL	c.7063-7A>T (n.7063-7A>T) n.945-7A>T c.1-12219A>T (n.1-12219A>T) c.6319-7A>T (n.6319-7A>T) c.6865-7A>T (n.6865-7A>T) c.6682-7A>T (n.6682-7A>T) c.6403-7A>T (n.6403-7A>T) c.5446-7A>T (n.5446-7A>T) c.5437-7A>T (n.5437-7A>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5	g.37052360_37052362del	CA2550887212	NIPBL	c.7063-6_7063-4del (n.7063-6_7063-4del) n.945-6_945-4del c.1-12218_1-12216del (n.1-12218_1-12216del) c.6319-6_6319-4del (n.6319-6_6319-4del) c.6865-6_6865-4del (n.6865-6_6865-4del) c.6682-6_6682-4del (n.6682-6_6682-4del) c.6403-6_6403-4del (n.6403-6_6403-4del) c.5446-6_5446-4del (n.5446-6_5446-4del) c.5437-6_5437-4del (n.5437-6_5437-4del)
5	g.37052363_37052364insCT	CA2562146775	NIPBL	c.7063-3_7063-2insCT (n.7063-3_7063-2insCT) n.945-3_945-2insCT c.1-12215_1-12214insCT (n.1-12215_1-12214insCT) c.6319-3_6319-2insCT (n.6319-3_6319-2insCT) c.6865-3_6865-2insCT (n.6865-3_6865-2insCT) c.6682-3_6682-2insCT (n.6682-3_6682-2insCT) c.6403-3_6403-2insCT (n.6403-3_6403-2insCT) c.5446-3_5446-2insCT (n.5446-3_5446-2insCT) c.5437-3_5437-2insCT (n.5437-3_5437-2insCT)
5	g.37052364A>C	CA359510963	NIPBL	c.7063-2A>C (n.7063-2A>C) n.945-2A>C c.1-12214A>C (n.1-12214A>C) c.6319-2A>C (n.6319-2A>C) c.6865-2A>C (n.6865-2A>C) c.6682-2A>C (n.6682-2A>C) c.6403-2A>C (n.6403-2A>C) c.5446-2A>C (n.5446-2A>C) c.5437-2A>C (n.5437-2A>C)
5	g.37052364A>G	CA359510970	NIPBL	c.7063-2A>G (n.7063-2A>G) n.945-2A>G c.1-12214A>G (n.1-12214A>G) c.6319-2A>G (n.6319-2A>G) c.6865-2A>G (n.6865-2A>G) c.6682-2A>G (n.6682-2A>G) c.6403-2A>G (n.6403-2A>G) c.5446-2A>G (n.5446-2A>G) c.5437-2A>G (n.5437-2A>G)
5	g.37052364A>T	CA359510973	NIPBL	c.7063-2A>T (n.7063-2A>T) n.945-2A>T c.1-12214A>T (n.1-12214A>T) c.6319-2A>T (n.6319-2A>T) c.6865-2A>T (n.6865-2A>T) c.6682-2A>T (n.6682-2A>T) c.6403-2A>T (n.6403-2A>T) c.5446-2A>T (n.5446-2A>T) c.5437-2A>T (n.5437-2A>T)
5	g.37052365G>A	CA359510983	NIPBL	c.7063-1G>A (n.7063-1G>A) n.945-1G>A c.1-12213G>A (n.1-12213G>A) c.6319-1G>A (n.6319-1G>A) c.6865-1G>A (n.6865-1G>A) c.6682-1G>A (n.6682-1G>A) c.6403-1G>A (n.6403-1G>A) c.5446-1G>A (n.5446-1G>A) c.5437-1G>A (n.5437-1G>A)
5	g.37052365G>C	CA359510981	NIPBL	c.7063-1G>C (n.7063-1G>C) n.945-1G>C c.1-12213G>C (n.1-12213G>C) c.6319-1G>C (n.6319-1G>C) c.6865-1G>C (n.6865-1G>C) c.6682-1G>C (n.6682-1G>C) c.6403-1G>C (n.6403-1G>C) c.5446-1G>C (n.5446-1G>C) c.5437-1G>C (n.5437-1G>C)
5	g.37052365G>T	CA359510979	NIPBL	c.7063-1G>T (n.7063-1G>T) n.945-1G>T c.1-12213G>T (n.1-12213G>T) c.6319-1G>T (n.6319-1G>T) c.6865-1G>T (n.6865-1G>T) c.6682-1G>T (n.6682-1G>T) c.6403-1G>T (n.6403-1G>T) c.5446-1G>T (n.5446-1G>T) c.5437-1G>T (n.5437-1G>T)
5	g.37052366A>C	CA359510986	NIPBL	c.7063A>C (p.Met2355Leu) n.945A>C c.1-12212A>C (n.1-12212A>C) c.6319A>C (p.Met2107Leu) c.6865A>C (p.Met2289Leu) c.6682A>C (p.Met2228Leu) c.6403A>C (p.Met2135Leu) c.5446A>C (p.Met1816Leu) c.5437A>C (p.Met1813Leu)
5	g.37052366A>G	CA359510989	NIPBL	c.7063A>G (p.Met2355Val) n.945A>G c.1-12212A>G (n.1-12212A>G) c.6319A>G (p.Met2107Val) c.6865A>G (p.Met2289Val) c.6682A>G (p.Met2228Val) c.6403A>G (p.Met2135Val) c.5446A>G (p.Met1816Val) c.5437A>G (p.Met1813Val)	ClinVar dbSNP
5	g.37052366A>T	CA359510992	NIPBL	c.7063A>T (p.Met2355Leu) n.945A>T c.1-12212A>T (n.1-12212A>T) c.6319A>T (p.Met2107Leu) c.6865A>T (p.Met2289Leu) c.6682A>T (p.Met2228Leu) c.6403A>T (p.Met2135Leu) c.5446A>T (p.Met1816Leu) c.5437A>T (p.Met1813Leu)
5	g.37052367T>A	CA359510995	NIPBL	c.7064T>A (p.Met2355Lys) n.946T>A c.1-12211T>A (n.1-12211T>A) c.6320T>A (p.Met2107Lys) c.6866T>A (p.Met2289Lys) c.6683T>A (p.Met2228Lys) c.6404T>A (p.Met2135Lys) c.5447T>A (p.Met1816Lys) c.5438T>A (p.Met1813Lys)
5	g.37052367T>C	CA359510996	NIPBL	c.7064T>C (p.Met2355Thr) n.946T>C c.1-12211T>C (n.1-12211T>C) c.6320T>C (p.Met2107Thr) c.6866T>C (p.Met2289Thr) c.6683T>C (p.Met2228Thr) c.6404T>C (p.Met2135Thr) c.5447T>C (p.Met1816Thr) c.5438T>C (p.Met1813Thr)
5	g.37052367T>G	CA359510997	NIPBL	c.7064T>G (p.Met2355Arg) n.946T>G c.1-12211T>G (n.1-12211T>G) c.6320T>G (p.Met2107Arg) c.6866T>G (p.Met2289Arg) c.6683T>G (p.Met2228Arg) c.6404T>G (p.Met2135Arg) c.5447T>G (p.Met1816Arg) c.5438T>G (p.Met1813Arg)
5	g.37052368G>A	CA359510998	NIPBL	c.7065G>A (p.Met2355Ile) n.947G>A c.1-12210G>A (n.1-12210G>A) c.6321G>A (p.Met2107Ile) c.6867G>A (p.Met2289Ile) c.6684G>A (p.Met2228Ile) c.6405G>A (p.Met2135Ile) c.5448G>A (p.Met1816Ile) c.5439G>A (p.Met1813Ile)	dbSNP gnomAD v3 gnomAD v4
5	g.37052368G>C	CA359511000	NIPBL	c.7065G>C (p.Met2355Ile) n.947G>C c.1-12210G>C (n.1-12210G>C) c.6321G>C (p.Met2107Ile) c.6867G>C (p.Met2289Ile) c.6684G>C (p.Met2228Ile) c.6405G>C (p.Met2135Ile) c.5448G>C (p.Met1816Ile) c.5439G>C (p.Met1813Ile)
5	g.37052368G=	CA1539572075	NIPBL	c.7065G= (p.Met2355=) n.947G= c.1-12210G= (n.1-12210G=) c.6321G= (p.Met2107=) c.6867G= (p.Met2289=) c.6684G= (p.Met2228=) c.6405G= (p.Met2135=) c.5448G= (p.Met1816=) c.5439G= (p.Met1813=)
5	g.37052368G>T	CA359511003	NIPBL	c.7065G>T (p.Met2355Ile) n.947G>T c.1-12210G>T (n.1-12210G>T) c.6321G>T (p.Met2107Ile) c.6867G>T (p.Met2289Ile) c.6684G>T (p.Met2228Ile) c.6405G>T (p.Met2135Ile) c.5448G>T (p.Met1816Ile) c.5439G>T (p.Met1813Ile)
5	g.37052369A>C	CA359511016	NIPBL	c.7066A>C (p.Lys2356Gln) n.948A>C c.1-12209A>C (n.1-12209A>C) c.6322A>C (p.Lys2108Gln) c.6868A>C (p.Lys2290Gln) c.6685A>C (p.Lys2229Gln) c.6406A>C (p.Lys2136Gln) c.5449A>C (p.Lys1817Gln) c.5440A>C (p.Lys1814Gln)
5	g.37052369A>G	CA359511018	NIPBL	c.7066A>G (p.Lys2356Glu) n.948A>G c.1-12209A>G (n.1-12209A>G) c.6322A>G (p.Lys2108Glu) c.6868A>G (p.Lys2290Glu) c.6685A>G (p.Lys2229Glu) c.6406A>G (p.Lys2136Glu) c.5449A>G (p.Lys1817Glu) c.5440A>G (p.Lys1814Glu)
5	g.37052369A>T	CA359511022	NIPBL	c.7066A>T (p.Lys2356Ter) n.948A>T c.1-12209A>T (n.1-12209A>T) c.6322A>T (p.Lys2108Ter) c.6868A>T (p.Lys2290Ter) c.6685A>T (p.Lys2229Ter) c.6406A>T (p.Lys2136Ter) c.5449A>T (p.Lys1817Ter) c.5440A>T (p.Lys1814Ter)
5	g.37052370A>C	CA359511043	NIPBL	c.7067A>C (p.Lys2356Thr) n.949A>C c.1-12208A>C (n.1-12208A>C) c.6323A>C (p.Lys2108Thr) c.6869A>C (p.Lys2290Thr) c.6686A>C (p.Lys2229Thr) c.6407A>C (p.Lys2136Thr) c.5450A>C (p.Lys1817Thr) c.5441A>C (p.Lys1814Thr)
5	g.37052370A>G	CA359511036	NIPBL	c.7067A>G (p.Lys2356Arg) n.949A>G c.1-12208A>G (n.1-12208A>G) c.6323A>G (p.Lys2108Arg) c.6869A>G (p.Lys2290Arg) c.6686A>G (p.Lys2229Arg) c.6407A>G (p.Lys2136Arg) c.5450A>G (p.Lys1817Arg) c.5441A>G (p.Lys1814Arg)
5	g.37052370A>T	CA359511027	NIPBL	c.7067A>T (p.Lys2356Ile) n.949A>T c.1-12208A>T (n.1-12208A>T) c.6323A>T (p.Lys2108Ile) c.6869A>T (p.Lys2290Ile) c.6686A>T (p.Lys2229Ile) c.6407A>T (p.Lys2136Ile) c.5450A>T (p.Lys1817Ile) c.5441A>T (p.Lys1814Ile)
5	g.37052371A=	CA1539572078	NIPBL	c.7068A= (p.Lys2356=) n.950A= c.1-12207A= (n.1-12207A=) c.6324A= (p.Lys2108=) c.6870A= (p.Lys2290=) c.6687A= (p.Lys2229=) c.6408A= (p.Lys2136=) c.5451A= (p.Lys1817=) c.5442A= (p.Lys1814=)
5	g.37052371A>C	CA359511045	NIPBL	c.7068A>C (p.Lys2356Asn) n.950A>C c.1-12207A>C (n.1-12207A>C) c.6324A>C (p.Lys2108Asn) c.6870A>C (p.Lys2290Asn) c.6687A>C (p.Lys2229Asn) c.6408A>C (p.Lys2136Asn) c.5451A>C (p.Lys1817Asn) c.5442A>C (p.Lys1814Asn)
5	g.37052371A>G	CA443911252	NIPBL	c.7068A>G (p.Lys2356=) n.950A>G c.1-12207A>G (n.1-12207A>G) c.6324A>G (p.Lys2108=) c.6870A>G (p.Lys2290=) c.6687A>G (p.Lys2229=) c.6408A>G (p.Lys2136=) c.5451A>G (p.Lys1817=) c.5442A>G (p.Lys1814=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5	g.37052371A>T	CA359511046	NIPBL	c.7068A>T (p.Lys2356Asn) n.950A>T c.1-12207A>T (n.1-12207A>T) c.6324A>T (p.Lys2108Asn) c.6870A>T (p.Lys2290Asn) c.6687A>T (p.Lys2229Asn) c.6408A>T (p.Lys2136Asn) c.5451A>T (p.Lys1817Asn) c.5442A>T (p.Lys1814Asn)
5	g.37052372G>A	CA359511048	NIPBL	c.7069G>A (p.Ala2357Thr) n.951G>A c.1-12206G>A (n.1-12206G>A) c.6325G>A (p.Ala2109Thr) c.6871G>A (p.Ala2291Thr) c.6688G>A (p.Ala2230Thr) c.6409G>A (p.Ala2137Thr) c.5452G>A (p.Ala1818Thr) c.5443G>A (p.Ala1815Thr)
5	g.37052372G>C	CA359511050	NIPBL	c.7069G>C (p.Ala2357Pro) n.951G>C c.1-12206G>C (n.1-12206G>C) c.6325G>C (p.Ala2109Pro) c.6871G>C (p.Ala2291Pro) c.6688G>C (p.Ala2230Pro) c.6409G>C (p.Ala2137Pro) c.5452G>C (p.Ala1818Pro) c.5443G>C (p.Ala1815Pro)
5	g.37052372G>T	CA359511051	NIPBL	c.7069G>T (p.Ala2357Ser) n.951G>T c.1-12206G>T (n.1-12206G>T) c.6325G>T (p.Ala2109Ser) c.6871G>T (p.Ala2291Ser) c.6688G>T (p.Ala2230Ser) c.6409G>T (p.Ala2137Ser) c.5452G>T (p.Ala1818Ser) c.5443G>T (p.Ala1815Ser)
5	g.37052373C>A	CA359511052	NIPBL	c.7070C>A (p.Ala2357Glu) n.952C>A c.1-12205C>A (n.1-12205C>A) c.6326C>A (p.Ala2109Glu) c.6872C>A (p.Ala2291Glu) c.6689C>A (p.Ala2230Glu) c.6410C>A (p.Ala2137Glu) c.5453C>A (p.Ala1818Glu) c.5444C>A (p.Ala1815Glu)
5	g.37052373C>G	CA359511056	NIPBL	c.7070C>G (p.Ala2357Gly) n.952C>G c.1-12205C>G (n.1-12205C>G) c.6326C>G (p.Ala2109Gly) c.6872C>G (p.Ala2291Gly) c.6689C>G (p.Ala2230Gly) c.6410C>G (p.Ala2137Gly) c.5453C>G (p.Ala1818Gly) c.5444C>G (p.Ala1815Gly)
5	g.37052373C>T	CA359511057	NIPBL	c.7070C>T (p.Ala2357Val) n.952C>T c.1-12205C>T (n.1-12205C>T) c.6326C>T (p.Ala2109Val) c.6872C>T (p.Ala2291Val) c.6689C>T (p.Ala2230Val) c.6410C>T (p.Ala2137Val) c.5453C>T (p.Ala1818Val) c.5444C>T (p.Ala1815Val)
5	g.37052374A>C	CA443911267	NIPBL	c.7071A>C (p.Ala2357=) n.953A>C c.1-12204A>C (n.1-12204A>C) c.6327A>C (p.Ala2109=) c.6873A>C (p.Ala2291=) c.6690A>C (p.Ala2230=) c.6411A>C (p.Ala2137=) c.5454A>C (p.Ala1818=) c.5445A>C (p.Ala1815=)
5	g.37052374A>G	CA443911269	NIPBL	c.7071A>G (p.Ala2357=) n.953A>G c.1-12204A>G (n.1-12204A>G) c.6327A>G (p.Ala2109=) c.6873A>G (p.Ala2291=) c.6690A>G (p.Ala2230=) c.6411A>G (p.Ala2137=) c.5454A>G (p.Ala1818=) c.5445A>G (p.Ala1815=)	gnomAD v4
5	g.37052374A>T	CA443911271	NIPBL	c.7071A>T (p.Ala2357=) n.953A>T c.1-12204A>T (n.1-12204A>T) c.6327A>T (p.Ala2109=) c.6873A>T (p.Ala2291=) c.6690A>T (p.Ala2230=) c.6411A>T (p.Ala2137=) c.5454A>T (p.Ala1818=) c.5445A>T (p.Ala1815=)
5	g.37052374_37052377del	CA2506879002	NIPBL	c.7071_7074del (p.Val2358LeufsTer3) n.953_956del c.1-12204_1-12201del (n.1-12204_1-12201del) c.6327_6330del (p.Val2110LeufsTer3) c.6873_6876del (p.Val2292LeufsTer3) c.6690_6693del (p.Val2231LeufsTer3) c.6411_6414del (p.Val2138LeufsTer3) c.5454_5457del (p.Val1819LeufsTer3) c.5445_5448del (p.Val1816LeufsTer3)
5	g.37052375G>A	CA359511064	NIPBL	c.7072G>A (p.Val2358Met) n.954G>A c.1-12203G>A (n.1-12203G>A) c.6328G>A (p.Val2110Met) c.6874G>A (p.Val2292Met) c.6691G>A (p.Val2231Met) c.6412G>A (p.Val2138Met) c.5455G>A (p.Val1819Met) c.5446G>A (p.Val1816Met)
5	g.37052375G>C	CA359511061	NIPBL	c.7072G>C (p.Val2358Leu) n.954G>C c.1-12203G>C (n.1-12203G>C) c.6328G>C (p.Val2110Leu) c.6874G>C (p.Val2292Leu) c.6691G>C (p.Val2231Leu) c.6412G>C (p.Val2138Leu) c.5455G>C (p.Val1819Leu) c.5446G>C (p.Val1816Leu)	gnomAD v4
5	g.37052375G>T	CA359511060	NIPBL	c.7072G>T (p.Val2358Leu) n.954G>T c.1-12203G>T (n.1-12203G>T) c.6328G>T (p.Val2110Leu) c.6874G>T (p.Val2292Leu) c.6691G>T (p.Val2231Leu) c.6412G>T (p.Val2138Leu) c.5455G>T (p.Val1819Leu) c.5446G>T (p.Val1816Leu)
5	g.37052376T>A	CA359511067	NIPBL	c.7073T>A (p.Val2358Glu) n.955T>A c.1-12202T>A (n.1-12202T>A) c.6329T>A (p.Val2110Glu) c.6875T>A (p.Val2292Glu) c.6692T>A (p.Val2231Glu) c.6413T>A (p.Val2138Glu) c.5456T>A (p.Val1819Glu) c.5447T>A (p.Val1816Glu)
5	g.37052376T>C	CA359511069	NIPBL	c.7073T>C (p.Val2358Ala) n.955T>C c.1-12202T>C (n.1-12202T>C) c.6329T>C (p.Val2110Ala) c.6875T>C (p.Val2292Ala) c.6692T>C (p.Val2231Ala) c.6413T>C (p.Val2138Ala) c.5456T>C (p.Val1819Ala) c.5447T>C (p.Val1816Ala)
5	g.37052376T>G	CA359511071	NIPBL	c.7073T>G (p.Val2358Gly) n.955T>G c.1-12202T>G (n.1-12202T>G) c.6329T>G (p.Val2110Gly) c.6875T>G (p.Val2292Gly) c.6692T>G (p.Val2231Gly) c.6413T>G (p.Val2138Gly) c.5456T>G (p.Val1819Gly) c.5447T>G (p.Val1816Gly)
5	g.37052377G>A	CA443911283	NIPBL	c.7074G>A (p.Val2358=) n.956G>A c.1-12201G>A (n.1-12201G>A) c.6330G>A (p.Val2110=) c.6876G>A (p.Val2292=) c.6693G>A (p.Val2231=) c.6414G>A (p.Val2138=) c.5457G>A (p.Val1819=) c.5448G>A (p.Val1816=)
5	g.37052377G>C	CA443911285	NIPBL	c.7074G>C (p.Val2358=) n.956G>C c.1-12201G>C (n.1-12201G>C) c.6330G>C (p.Val2110=) c.6876G>C (p.Val2292=) c.6693G>C (p.Val2231=) c.6414G>C (p.Val2138=) c.5457G>C (p.Val1819=) c.5448G>C (p.Val1816=)
5	g.37052377G>T	CA443911288	NIPBL	c.7074G>T (p.Val2358=) n.956G>T c.1-12201G>T (n.1-12201G>T) c.6330G>T (p.Val2110=) c.6876G>T (p.Val2292=) c.6693G>T (p.Val2231=) c.6414G>T (p.Val2138=) c.5457G>T (p.Val1819=) c.5448G>T (p.Val1816=)
5	g.37052378G>A	CA359511073	NIPBL	c.7075G>A (p.Ala2359Thr) n.957G>A c.1-12200G>A (n.1-12200G>A) c.6331G>A (p.Ala2111Thr) c.6877G>A (p.Ala2293Thr) c.6694G>A (p.Ala2232Thr) c.6415G>A (p.Ala2139Thr) c.5458G>A (p.Ala1820Thr) c.5449G>A (p.Ala1817Thr)
5	g.37052378G>C	CA359511075	NIPBL	c.7075G>C (p.Ala2359Pro) n.957G>C c.1-12200G>C (n.1-12200G>C) c.6331G>C (p.Ala2111Pro) c.6877G>C (p.Ala2293Pro) c.6694G>C (p.Ala2232Pro) c.6415G>C (p.Ala2139Pro) c.5458G>C (p.Ala1820Pro) c.5449G>C (p.Ala1817Pro)
5	g.37052378G>T	CA359511076	NIPBL	c.7075G>T (p.Ala2359Ser) n.957G>T c.1-12200G>T (n.1-12200G>T) c.6331G>T (p.Ala2111Ser) c.6877G>T (p.Ala2293Ser) c.6694G>T (p.Ala2232Ser) c.6415G>T (p.Ala2139Ser) c.5458G>T (p.Ala1820Ser) c.5449G>T (p.Ala1817Ser)
5	g.37052379C>A	CA359511077	NIPBL	c.7076C>A (p.Ala2359Asp) n.958C>A c.1-12199C>A (n.1-12199C>A) c.6332C>A (p.Ala2111Asp) c.6878C>A (p.Ala2293Asp) c.6695C>A (p.Ala2232Asp) c.6416C>A (p.Ala2139Asp) c.5459C>A (p.Ala1820Asp) c.5450C>A (p.Ala1817Asp)
5	g.37052379C=	CA1539572081	NIPBL	c.7076C= (p.Ala2359=) n.958C= c.1-12199C= (n.1-12199C=) c.6332C= (p.Ala2111=) c.6878C= (p.Ala2293=) c.6695C= (p.Ala2232=) c.6416C= (p.Ala2139=) c.5459C= (p.Ala1820=) c.5450C= (p.Ala1817=)
5	g.37052379C>G	CA359511079	NIPBL	c.7076C>G (p.Ala2359Gly) n.958C>G c.1-12199C>G (n.1-12199C>G) c.6332C>G (p.Ala2111Gly) c.6878C>G (p.Ala2293Gly) c.6695C>G (p.Ala2232Gly) c.6416C>G (p.Ala2139Gly) c.5459C>G (p.Ala1820Gly) c.5450C>G (p.Ala1817Gly)	dbSNP gnomAD v4
5	g.37052379C>T	CA359511078	NIPBL	c.7076C>T (p.Ala2359Val) n.958C>T c.1-12199C>T (n.1-12199C>T) c.6332C>T (p.Ala2111Val) c.6878C>T (p.Ala2293Val) c.6695C>T (p.Ala2232Val) c.6416C>T (p.Ala2139Val) c.5459C>T (p.Ala1820Val) c.5450C>T (p.Ala1817Val)	gnomAD v4
5	g.37052380T>A	CA443911298	NIPBL	c.7077T>A (p.Ala2359=) n.959T>A c.1-12198T>A (n.1-12198T>A) c.6333T>A (p.Ala2111=) c.6879T>A (p.Ala2293=) c.6696T>A (p.Ala2232=) c.6417T>A (p.Ala2139=) c.5460T>A (p.Ala1820=) c.5451T>A (p.Ala1817=)
5	g.37052380T>C	CA3237137	NIPBL	c.7077T>C (p.Ala2359=) n.959T>C c.1-12198T>C (n.1-12198T>C) c.6333T>C (p.Ala2111=) c.6879T>C (p.Ala2293=) c.6696T>C (p.Ala2232=) c.6417T>C (p.Ala2139=) c.5460T>C (p.Ala1820=) c.5451T>C (p.Ala1817=)	dbSNP ExAC
5	g.37052380T>G	CA443911301	NIPBL	c.7077T>G (p.Ala2359=) n.959T>G c.1-12198T>G (n.1-12198T>G) c.6333T>G (p.Ala2111=) c.6879T>G (p.Ala2293=) c.6696T>G (p.Ala2232=) c.6417T>G (p.Ala2139=) c.5460T>G (p.Ala1820=) c.5451T>G (p.Ala1817=)
5	g.37052380T=	CA1539572086	NIPBL	c.7077T= (p.Ala2359=) n.959T= c.1-12198T= (n.1-12198T=) c.6333T= (p.Ala2111=) c.6879T= (p.Ala2293=) c.6696T= (p.Ala2232=) c.6417T= (p.Ala2139=) c.5460T= (p.Ala1820=) c.5451T= (p.Ala1817=)
5	g.37052381G>A	CA359511081	NIPBL	c.7078G>A (p.Gly2360Ser) n.960G>A c.1-12197G>A (n.1-12197G>A) c.6334G>A (p.Gly2112Ser) c.6880G>A (p.Gly2294Ser) c.6697G>A (p.Gly2233Ser) c.6418G>A (p.Gly2140Ser) c.5461G>A (p.Gly1821Ser) c.5452G>A (p.Gly1818Ser)
5	g.37052381G>C	CA359511082	NIPBL	c.7078G>C (p.Gly2360Arg) n.960G>C c.1-12197G>C (n.1-12197G>C) c.6334G>C (p.Gly2112Arg) c.6880G>C (p.Gly2294Arg) c.6697G>C (p.Gly2233Arg) c.6418G>C (p.Gly2140Arg) c.5461G>C (p.Gly1821Arg) c.5452G>C (p.Gly1818Arg)
5	g.37052381G>T	CA359511084	NIPBL	c.7078G>T (p.Gly2360Cys) n.960G>T c.1-12197G>T (n.1-12197G>T) c.6334G>T (p.Gly2112Cys) c.6880G>T (p.Gly2294Cys) c.6697G>T (p.Gly2233Cys) c.6418G>T (p.Gly2140Cys) c.5461G>T (p.Gly1821Cys) c.5452G>T (p.Gly1818Cys)
5	g.37052381_37052382insCTTACAAATT	CA2512060369	NIPBL	c.7078_7079insCTTACAAATT (p.Gly2360AlafsTer33) n.960_961insCTTACAAATT c.1-12197_1-12196insCTTACAAATT (n.1-12197_1-12196insCTTACAAATT) c.6334_6335insCTTACAAATT (p.Gly2112AlafsTer33) c.6880_6881insCTTACAAATT (p.Gly2294AlafsTer33) c.6697_6698insCTTACAAATT (p.Gly2233AlafsTer33) c.6418_6419insCTTACAAATT (p.Gly2140AlafsTer33) c.5461_5462insCTTACAAATT (p.Gly1821AlafsTer33) c.5452_5453insCTTACAAATT (p.Gly1818AlafsTer33)
5	g.37052382G>A	CA359511090	NIPBL	c.7079G>A (p.Gly2360Asp) n.961G>A c.1-12196G>A (n.1-12196G>A) c.6335G>A (p.Gly2112Asp) c.6881G>A (p.Gly2294Asp) c.6698G>A (p.Gly2233Asp) c.6419G>A (p.Gly2140Asp) c.5462G>A (p.Gly1821Asp) c.5453G>A (p.Gly1818Asp)	ClinVar dbSNP
5	g.37052382G>C	CA359511094	NIPBL	c.7079G>C (p.Gly2360Ala) n.961G>C c.1-12196G>C (n.1-12196G>C) c.6335G>C (p.Gly2112Ala) c.6881G>C (p.Gly2294Ala) c.6698G>C (p.Gly2233Ala) c.6419G>C (p.Gly2140Ala) c.5462G>C (p.Gly1821Ala) c.5453G>C (p.Gly1818Ala)
5	g.37052382G>T	CA359511095	NIPBL	c.7079G>T (p.Gly2360Val) n.961G>T c.1-12196G>T (n.1-12196G>T) c.6335G>T (p.Gly2112Val) c.6881G>T (p.Gly2294Val) c.6698G>T (p.Gly2233Val) c.6419G>T (p.Gly2140Val) c.5462G>T (p.Gly1821Val) c.5453G>T (p.Gly1818Val)
5	g.37052382_37052383insAAAT	CA2506877374	NIPBL	c.7079_7080insAAAT (p.Met2361AsnfsTer30) n.961_962insAAAT c.1-12196_1-12195insAAAT (n.1-12196_1-12195insAAAT) c.6335_6336insAAAT (p.Met2113AsnfsTer30) c.6881_6882insAAAT (p.Met2295AsnfsTer30) c.6698_6699insAAAT (p.Met2234AsnfsTer30) c.6419_6420insAAAT (p.Met2141AsnfsTer30) c.5462_5463insAAAT (p.Met1822AsnfsTer30) c.5453_5454insAAAT (p.Met1819AsnfsTer30)
5	g.37052383T>A	CA443911314	NIPBL	c.7080T>A (p.Gly2360=) n.962T>A c.1-12195T>A (n.1-12195T>A) c.6336T>A (p.Gly2112=) c.6882T>A (p.Gly2294=) c.6699T>A (p.Gly2233=) c.6420T>A (p.Gly2140=) c.5463T>A (p.Gly1821=) c.5454T>A (p.Gly1818=)
5	g.37052383T>C	CA443911319	NIPBL	c.7080T>C (p.Gly2360=) n.962T>C c.1-12195T>C (n.1-12195T>C) c.6336T>C (p.Gly2112=) c.6882T>C (p.Gly2294=) c.6699T>C (p.Gly2233=) c.6420T>C (p.Gly2140=) c.5463T>C (p.Gly1821=) c.5454T>C (p.Gly1818=)
5	g.37052383T>G	CA3237138	NIPBL	c.7080T>G (p.Gly2360=) n.962T>G c.1-12195T>G (n.1-12195T>G) c.6336T>G (p.Gly2112=) c.6882T>G (p.Gly2294=) c.6699T>G (p.Gly2233=) c.6420T>G (p.Gly2140=) c.5463T>G (p.Gly1821=) c.5454T>G (p.Gly1818=)	dbSNP ExAC gnomAD v2 gnomAD v4
5	g.37052383T=	CA1539572088	NIPBL	c.7080T= (p.Gly2360=) n.962T= c.1-12195T= (n.1-12195T=) c.6336T= (p.Gly2112=) c.6882T= (p.Gly2294=) c.6699T= (p.Gly2233=) c.6420T= (p.Gly2140=) c.5463T= (p.Gly1821=) c.5454T= (p.Gly1818=)
5	g.37052384A=	CA1539572096	NIPBL	c.7081A= (p.Met2361=) n.963A= c.1-12194A= (n.1-12194A=) c.6337A= (p.Met2113=) c.6883A= (p.Met2295=) c.6700A= (p.Met2234=) c.6421A= (p.Met2141=) c.5464A= (p.Met1822=) c.5455A= (p.Met1819=)
5	g.37052384A>C	CA359511097	NIPBL	c.7081A>C (p.Met2361Leu) n.963A>C c.1-12194A>C (n.1-12194A>C) c.6337A>C (p.Met2113Leu) c.6883A>C (p.Met2295Leu) c.6700A>C (p.Met2234Leu) c.6421A>C (p.Met2141Leu) c.5464A>C (p.Met1822Leu) c.5455A>C (p.Met1819Leu)
5	g.37052384A>G	CA359511098	NIPBL	c.7081A>G (p.Met2361Val) n.963A>G c.1-12194A>G (n.1-12194A>G) c.6337A>G (p.Met2113Val) c.6883A>G (p.Met2295Val) c.6700A>G (p.Met2234Val) c.6421A>G (p.Met2141Val) c.5464A>G (p.Met1822Val) c.5455A>G (p.Met1819Val)	dbSNP gnomAD v2 gnomAD v4
5	g.37052384A>T	CA359511099	NIPBL	c.7081A>T (p.Met2361Leu) n.963A>T c.1-12194A>T (n.1-12194A>T) c.6337A>T (p.Met2113Leu) c.6883A>T (p.Met2295Leu) c.6700A>T (p.Met2234Leu) c.6421A>T (p.Met2141Leu) c.5464A>T (p.Met1822Leu) c.5455A>T (p.Met1819Leu)	dbSNP
5	g.37052385T>A	CA359511100	NIPBL	c.7082T>A (p.Met2361Lys) n.964T>A c.1-12193T>A (n.1-12193T>A) c.6338T>A (p.Met2113Lys) c.6884T>A (p.Met2295Lys) c.6701T>A (p.Met2234Lys) c.6422T>A (p.Met2141Lys) c.5465T>A (p.Met1822Lys) c.5456T>A (p.Met1819Lys)
5	g.37052385T>C	CA359511102	NIPBL	c.7082T>C (p.Met2361Thr) n.964T>C c.1-12193T>C (n.1-12193T>C) c.6338T>C (p.Met2113Thr) c.6884T>C (p.Met2295Thr) c.6701T>C (p.Met2234Thr) c.6422T>C (p.Met2141Thr) c.5465T>C (p.Met1822Thr) c.5456T>C (p.Met1819Thr)
5	g.37052385T>G	CA359511101	NIPBL	c.7082T>G (p.Met2361Arg) n.964T>G c.1-12193T>G (n.1-12193T>G) c.6338T>G (p.Met2113Arg) c.6884T>G (p.Met2295Arg) c.6701T>G (p.Met2234Arg) c.6422T>G (p.Met2141Arg) c.5465T>G (p.Met1822Arg) c.5456T>G (p.Met1819Arg)
5	g.37052385_37052386insAAAACA	CA2514751731	NIPBL	c.7082_7083insAAAACA (p.Met2361delinsIleLysGln) n.964_965insAAAACA c.1-12193_1-12192insAAAACA (n.1-12193_1-12192insAAAACA) c.6338_6339insAAAACA (p.Met2113delinsIleLysGln) c.6884_6885insAAAACA (p.Met2295delinsIleLysGln) c.6701_6702insAAAACA (p.Met2234delinsIleLysGln) c.6422_6423insAAAACA (p.Met2141delinsIleLysGln) c.5465_5466insAAAACA (p.Met1822delinsIleLysGln) c.5456_5457insAAAACA (p.Met1819delinsIleLysGln)
5	g.37052386G>A	CA359511103	NIPBL	c.7083G>A (p.Met2361Ile) n.965G>A c.1-12192G>A (n.1-12192G>A) c.6339G>A (p.Met2113Ile) c.6885G>A (p.Met2295Ile) c.6702G>A (p.Met2234Ile) c.6423G>A (p.Met2141Ile) c.5466G>A (p.Met1822Ile) c.5457G>A (p.Met1819Ile)
5	g.37052386G>C	CA359511104	NIPBL	c.7083G>C (p.Met2361Ile) n.965G>C c.1-12192G>C (n.1-12192G>C) c.6339G>C (p.Met2113Ile) c.6885G>C (p.Met2295Ile) c.6702G>C (p.Met2234Ile) c.6423G>C (p.Met2141Ile) c.5466G>C (p.Met1822Ile) c.5457G>C (p.Met1819Ile)
5	g.37052386G>T	CA359511106	NIPBL	c.7083G>T (p.Met2361Ile) n.965G>T c.1-12192G>T (n.1-12192G>T) c.6339G>T (p.Met2113Ile) c.6885G>T (p.Met2295Ile) c.6702G>T (p.Met2234Ile) c.6423G>T (p.Met2141Ile) c.5466G>T (p.Met1822Ile) c.5457G>T (p.Met1819Ile)
5	g.37052387A>C	CA359511107	NIPBL	c.7084A>C (p.Lys2362Gln) n.966A>C c.1-12191A>C (n.1-12191A>C) c.6340A>C (p.Lys2114Gln) c.6886A>C (p.Lys2296Gln) c.6703A>C (p.Lys2235Gln) c.6424A>C (p.Lys2142Gln) c.5467A>C (p.Lys1823Gln) c.5458A>C (p.Lys1820Gln)
5	g.37052387A>G	CA359511108	NIPBL	c.7084A>G (p.Lys2362Glu) n.966A>G c.1-12191A>G (n.1-12191A>G) c.6340A>G (p.Lys2114Glu) c.6886A>G (p.Lys2296Glu) c.6703A>G (p.Lys2235Glu) c.6424A>G (p.Lys2142Glu) c.5467A>G (p.Lys1823Glu) c.5458A>G (p.Lys1820Glu)
5	g.37052387A>T	CA359511109	NIPBL	c.7084A>T (p.Lys2362Ter) n.966A>T c.1-12191A>T (n.1-12191A>T) c.6340A>T (p.Lys2114Ter) c.6886A>T (p.Lys2296Ter) c.6703A>T (p.Lys2235Ter) c.6424A>T (p.Lys2142Ter) c.5467A>T (p.Lys1823Ter) c.5458A>T (p.Lys1820Ter)
5	g.37052388A>C	CA359511110	NIPBL	c.7085A>C (p.Lys2362Thr) n.967A>C c.1-12190A>C (n.1-12190A>C) c.6341A>C (p.Lys2114Thr) c.6887A>C (p.Lys2296Thr) c.6704A>C (p.Lys2235Thr) c.6425A>C (p.Lys2142Thr) c.5468A>C (p.Lys1823Thr) c.5459A>C (p.Lys1820Thr)
5	g.37052388A>G	CA359511111	NIPBL	c.7085A>G (p.Lys2362Arg) n.967A>G c.1-12190A>G (n.1-12190A>G) c.6341A>G (p.Lys2114Arg) c.6887A>G (p.Lys2296Arg) c.6704A>G (p.Lys2235Arg) c.6425A>G (p.Lys2142Arg) c.5468A>G (p.Lys1823Arg) c.5459A>G (p.Lys1820Arg)
5	g.37052388A>T	CA359511113	NIPBL	c.7085A>T (p.Lys2362Met) n.967A>T c.1-12190A>T (n.1-12190A>T) c.6341A>T (p.Lys2114Met) c.6887A>T (p.Lys2296Met) c.6704A>T (p.Lys2235Met) c.6425A>T (p.Lys2142Met) c.5468A>T (p.Lys1823Met) c.5459A>T (p.Lys1820Met)
5	g.37052389G>A	CA443911346	NIPBL	c.7086G>A (p.Lys2362=) n.968G>A c.1-12189G>A (n.1-12189G>A) c.6342G>A (p.Lys2114=) c.6888G>A (p.Lys2296=) c.6705G>A (p.Lys2235=) c.6426G>A (p.Lys2142=) c.5469G>A (p.Lys1823=) c.5460G>A (p.Lys1820=)	gnomAD v4
5	g.37052389G>C	CA359511115	NIPBL	c.7086G>C (p.Lys2362Asn) n.968G>C c.1-12189G>C (n.1-12189G>C) c.6342G>C (p.Lys2114Asn) c.6888G>C (p.Lys2296Asn) c.6705G>C (p.Lys2235Asn) c.6426G>C (p.Lys2142Asn) c.5469G>C (p.Lys1823Asn) c.5460G>C (p.Lys1820Asn)
5	g.37052389G>T	CA359511116	NIPBL	c.7086G>T (p.Lys2362Asn) n.968G>T c.1-12189G>T (n.1-12189G>T) c.6342G>T (p.Lys2114Asn) c.6888G>T (p.Lys2296Asn) c.6705G>T (p.Lys2235Asn) c.6426G>T (p.Lys2142Asn) c.5469G>T (p.Lys1823Asn) c.5460G>T (p.Lys1820Asn)
5	g.37052390A>C	CA359511119	NIPBL	c.7087A>C (p.Met2363Leu) n.969A>C c.1-12188A>C (n.1-12188A>C) c.6343A>C (p.Met2115Leu) c.6889A>C (p.Met2297Leu) c.6706A>C (p.Met2236Leu) c.6427A>C (p.Met2143Leu) c.5470A>C (p.Met1824Leu) c.5461A>C (p.Met1821Leu)
5	g.37052390A>G	CA359511118	NIPBL	c.7087A>G (p.Met2363Val) n.969A>G c.1-12188A>G (n.1-12188A>G) c.6343A>G (p.Met2115Val) c.6889A>G (p.Met2297Val) c.6706A>G (p.Met2236Val) c.6427A>G (p.Met2143Val) c.5470A>G (p.Met1824Val) c.5461A>G (p.Met1821Val)
5	g.37052390A>T	CA359511117	NIPBL	c.7087A>T (p.Met2363Leu) n.969A>T c.1-12188A>T (n.1-12188A>T) c.6343A>T (p.Met2115Leu) c.6889A>T (p.Met2297Leu) c.6706A>T (p.Met2236Leu) c.6427A>T (p.Met2143Leu) c.5470A>T (p.Met1824Leu) c.5461A>T (p.Met1821Leu)
5	g.37052390_37052391insAACTATCA	CA2508479204	NIPBL	c.7087_7088insAACTATCA (p.Met2363LysfsTer16) n.969_970insAACTATCA c.1-12188_1-12187insAACTATCA (n.1-12188_1-12187insAACTATCA) c.6343_6344insAACTATCA (p.Met2115LysfsTer16) c.6889_6890insAACTATCA (p.Met2297LysfsTer16) c.6706_6707insAACTATCA (p.Met2236LysfsTer16) c.6427_6428insAACTATCA (p.Met2143LysfsTer16) c.5470_5471insAACTATCA (p.Met1824LysfsTer16) c.5461_5462insAACTATCA (p.Met1821LysfsTer16)
5	g.37052391T>A	CA359511121	NIPBL	c.7088T>A (p.Met2363Lys) n.970T>A c.1-12187T>A (n.1-12187T>A) c.6344T>A (p.Met2115Lys) c.6890T>A (p.Met2297Lys) c.6707T>A (p.Met2236Lys) c.6428T>A (p.Met2143Lys) c.5471T>A (p.Met1824Lys) c.5462T>A (p.Met1821Lys)
5	g.37052391T>C	CA359511123	NIPBL	c.7088T>C (p.Met2363Thr) n.970T>C c.1-12187T>C (n.1-12187T>C) c.6344T>C (p.Met2115Thr) c.6890T>C (p.Met2297Thr) c.6707T>C (p.Met2236Thr) c.6428T>C (p.Met2143Thr) c.5471T>C (p.Met1824Thr) c.5462T>C (p.Met1821Thr)
5	g.37052391T>G	CA359511125	NIPBL	c.7088T>G (p.Met2363Arg) n.970T>G c.1-12187T>G (n.1-12187T>G) c.6344T>G (p.Met2115Arg) c.6890T>G (p.Met2297Arg) c.6707T>G (p.Met2236Arg) c.6428T>G (p.Met2143Arg) c.5471T>G (p.Met1824Arg) c.5462T>G (p.Met1821Arg)
5	g.37052392G>A	CA359511128	NIPBL	c.7089G>A (p.Met2363Ile) n.971G>A c.1-12186G>A (n.1-12186G>A) c.6345G>A (p.Met2115Ile) c.6891G>A (p.Met2297Ile) c.6708G>A (p.Met2236Ile) c.6429G>A (p.Met2143Ile) c.5472G>A (p.Met1824Ile) c.5463G>A (p.Met1821Ile)
5	g.37052392G>C	CA359511129	NIPBL	c.7089G>C (p.Met2363Ile) n.971G>C c.1-12186G>C (n.1-12186G>C) c.6345G>C (p.Met2115Ile) c.6891G>C (p.Met2297Ile) c.6708G>C (p.Met2236Ile) c.6429G>C (p.Met2143Ile) c.5472G>C (p.Met1824Ile) c.5463G>C (p.Met1821Ile)
5	g.37052392G>T	CA359511131	NIPBL	c.7089G>T (p.Met2363Ile) n.971G>T c.1-12186G>T (n.1-12186G>T) c.6345G>T (p.Met2115Ile) c.6891G>T (p.Met2297Ile) c.6708G>T (p.Met2236Ile) c.6429G>T (p.Met2143Ile) c.5472G>T (p.Met1824Ile) c.5463G>T (p.Met1821Ile)
5	g.37052393T>A	CA359511132	NIPBL	c.7090T>A (p.Ser2364Thr) n.972T>A c.1-12185T>A (n.1-12185T>A) c.6346T>A (p.Ser2116Thr) c.6892T>A (p.Ser2298Thr) c.6709T>A (p.Ser2237Thr) c.6430T>A (p.Ser2144Thr) c.5473T>A (p.Ser1825Thr) c.5464T>A (p.Ser1822Thr)
5	g.37052393T>C	CA359511134	NIPBL	c.7090T>C (p.Ser2364Pro) n.972T>C c.1-12185T>C (n.1-12185T>C) c.6346T>C (p.Ser2116Pro) c.6892T>C (p.Ser2298Pro) c.6709T>C (p.Ser2237Pro) c.6430T>C (p.Ser2144Pro) c.5473T>C (p.Ser1825Pro) c.5464T>C (p.Ser1822Pro)
5	g.37052393T>G	CA359511135	NIPBL	c.7090T>G (p.Ser2364Ala) n.972T>G c.1-12185T>G (n.1-12185T>G) c.6346T>G (p.Ser2116Ala) c.6892T>G (p.Ser2298Ala) c.6709T>G (p.Ser2237Ala) c.6430T>G (p.Ser2144Ala) c.5473T>G (p.Ser1825Ala) c.5464T>G (p.Ser1822Ala)
5	g.37052394C>A	CA359511136	NIPBL	c.7091C>A (p.Ser2364Tyr) n.973C>A c.1-12184C>A (n.1-12184C>A) c.6347C>A (p.Ser2116Tyr) c.6893C>A (p.Ser2298Tyr) c.6710C>A (p.Ser2237Tyr) c.6431C>A (p.Ser2144Tyr) c.5474C>A (p.Ser1825Tyr) c.5465C>A (p.Ser1822Tyr)
5	g.37052394C>G	CA359511137	NIPBL	c.7091C>G (p.Ser2364Cys) n.973C>G c.1-12184C>G (n.1-12184C>G) c.6347C>G (p.Ser2116Cys) c.6893C>G (p.Ser2298Cys) c.6710C>G (p.Ser2237Cys) c.6431C>G (p.Ser2144Cys) c.5474C>G (p.Ser1825Cys) c.5465C>G (p.Ser1822Cys)
5	g.37052394C>T	CA359511138	NIPBL	c.7091C>T (p.Ser2364Phe) n.973C>T c.1-12184C>T (n.1-12184C>T) c.6347C>T (p.Ser2116Phe) c.6893C>T (p.Ser2298Phe) c.6710C>T (p.Ser2237Phe) c.6431C>T (p.Ser2144Phe) c.5474C>T (p.Ser1825Phe) c.5465C>T (p.Ser1822Phe)
5	g.37052394_37052401del	CA2501076810	NIPBL	c.7091_7098del (p.Ser2364CysfsTer23) n.973_980del c.1-12184_1-12177del (n.1-12184_1-12177del) c.6347_6354del (p.Ser2116CysfsTer23) c.6893_6900del (p.Ser2298CysfsTer23) c.6710_6717del (p.Ser2237CysfsTer23) c.6431_6438del (p.Ser2144CysfsTer23) c.5474_5481del (p.Ser1825CysfsTer23) c.5465_5472del (p.Ser1822CysfsTer23)
5	g.37052395T>A	CA443911374	NIPBL	c.7092T>A (p.Ser2364=) n.974T>A c.1-12183T>A (n.1-12183T>A) c.6348T>A (p.Ser2116=) c.6894T>A (p.Ser2298=) c.6711T>A (p.Ser2237=) c.6432T>A (p.Ser2144=) c.5475T>A (p.Ser1825=) c.5466T>A (p.Ser1822=)
5	g.37052395T>C	CA443911375	NIPBL	c.7092T>C (p.Ser2364=) n.974T>C c.1-12183T>C (n.1-12183T>C) c.6348T>C (p.Ser2116=) c.6894T>C (p.Ser2298=) c.6711T>C (p.Ser2237=) c.6432T>C (p.Ser2144=) c.5475T>C (p.Ser1825=) c.5466T>C (p.Ser1822=)
5	g.37052395T>G	CA443911378	NIPBL	c.7092T>G (p.Ser2364=) n.974T>G c.1-12183T>G (n.1-12183T>G) c.6348T>G (p.Ser2116=) c.6894T>G (p.Ser2298=) c.6711T>G (p.Ser2237=) c.6432T>G (p.Ser2144=) c.5475T>G (p.Ser1825=) c.5466T>G (p.Ser1822=)
5	g.37052396T>A	CA359511143	NIPBL	c.7093T>A (p.Tyr2365Asn) n.975T>A c.1-12182T>A (n.1-12182T>A) c.6349T>A (p.Tyr2117Asn) c.6895T>A (p.Tyr2299Asn) c.6712T>A (p.Tyr2238Asn) c.6433T>A (p.Tyr2145Asn) c.5476T>A (p.Tyr1826Asn) c.5467T>A (p.Tyr1823Asn)
5	g.37052396T>C	CA359511141	NIPBL	c.7093T>C (p.Tyr2365His) n.975T>C c.1-12182T>C (n.1-12182T>C) c.6349T>C (p.Tyr2117His) c.6895T>C (p.Tyr2299His) c.6712T>C (p.Tyr2238His) c.6433T>C (p.Tyr2145His) c.5476T>C (p.Tyr1826His) c.5467T>C (p.Tyr1823His)
5	g.37052396T>G	CA359511139	NIPBL	c.7093T>G (p.Tyr2365Asp) n.975T>G c.1-12182T>G (n.1-12182T>G) c.6349T>G (p.Tyr2117Asp) c.6895T>G (p.Tyr2299Asp) c.6712T>G (p.Tyr2238Asp) c.6433T>G (p.Tyr2145Asp) c.5476T>G (p.Tyr1826Asp) c.5467T>G (p.Tyr1823Asp)
5	g.37052396T=	CA1539572105	NIPBL	c.7093T= (p.Tyr2365=) n.975T= c.1-12182T= (n.1-12182T=) c.6349T= (p.Tyr2117=) c.6895T= (p.Tyr2299=) c.6712T= (p.Tyr2238=) c.6433T= (p.Tyr2145=) c.5476T= (p.Tyr1826=) c.5467T= (p.Tyr1823=)
5	g.37052397A>C	CA359511144	NIPBL	c.7094A>C (p.Tyr2365Ser) n.976A>C c.1-12181A>C (n.1-12181A>C) c.6350A>C (p.Tyr2117Ser) c.6896A>C (p.Tyr2299Ser) c.6713A>C (p.Tyr2238Ser) c.6434A>C (p.Tyr2145Ser) c.5477A>C (p.Tyr1826Ser) c.5468A>C (p.Tyr1823Ser)
5	g.37052397A>G	CA359511146	NIPBL	c.7094A>G (p.Tyr2365Cys) n.976A>G c.1-12181A>G (n.1-12181A>G) c.6350A>G (p.Tyr2117Cys) c.6896A>G (p.Tyr2299Cys) c.6713A>G (p.Tyr2238Cys) c.6434A>G (p.Tyr2145Cys) c.5477A>G (p.Tyr1826Cys) c.5468A>G (p.Tyr1823Cys)
5	g.37052397A>T	CA359511149	NIPBL	c.7094A>T (p.Tyr2365Phe) n.976A>T c.1-12181A>T (n.1-12181A>T) c.6350A>T (p.Tyr2117Phe) c.6896A>T (p.Tyr2299Phe) c.6713A>T (p.Tyr2238Phe) c.6434A>T (p.Tyr2145Phe) c.5477A>T (p.Tyr1826Phe) c.5468A>T (p.Tyr1823Phe)
5	g.37052397_37052420dup	CA810284540	NIPBL	c.7094_7117dup (p.Asn2372_Thr2373insAsnGlnValGlnGlnAlaIleAsn) n.976_999dup c.1-12181_1-12158dup (n.1-12181_1-12158dup) c.6350_6373dup (p.Asn2124_Thr2125insAsnGlnValGlnGlnAlaIleAsn) c.6896_6919dup (p.Asn2306_Thr2307insAsnGlnValGlnGlnAlaIleAsn) c.6713_6736dup (p.Asn2245_Thr2246insAsnGlnValGlnGlnAlaIleAsn) c.6434_6457dup (p.Asn2152_Thr2153insAsnGlnValGlnGlnAlaIleAsn) c.5477_5500dup (p.Asn1833_Thr1834insAsnGlnValGlnGlnAlaIleAsn) c.5468_5491dup (p.Asn1830_Thr1831insAsnGlnValGlnGlnAlaIleAsn)	dbSNP gnomAD v3 gnomAD v4
5	g.37052398C>A	CA359511152	NIPBL	c.7095C>A (p.Tyr2365Ter) n.977C>A c.1-12180C>A (n.1-12180C>A) c.6351C>A (p.Tyr2117Ter) c.6897C>A (p.Tyr2299Ter) c.6714C>A (p.Tyr2238Ter) c.6435C>A (p.Tyr2145Ter) c.5478C>A (p.Tyr1826Ter) c.5469C>A (p.Tyr1823Ter)
5	g.37052398C>G	CA359511154	NIPBL	c.7095C>G (p.Tyr2365Ter) n.977C>G c.1-12180C>G (n.1-12180C>G) c.6351C>G (p.Tyr2117Ter) c.6897C>G (p.Tyr2299Ter) c.6714C>G (p.Tyr2238Ter) c.6435C>G (p.Tyr2145Ter) c.5478C>G (p.Tyr1826Ter) c.5469C>G (p.Tyr1823Ter)
5	g.37052398C>T	CA443911393	NIPBL	c.7095C>T (p.Tyr2365=) n.977C>T c.1-12180C>T (n.1-12180C>T) c.6351C>T (p.Tyr2117=) c.6897C>T (p.Tyr2299=) c.6714C>T (p.Tyr2238=) c.6435C>T (p.Tyr2145=) c.5478C>T (p.Tyr1826=) c.5469C>T (p.Tyr1823=)
5	g.37052399C>A	CA359511158	NIPBL	c.7096C>A (p.Gln2366Lys) n.978C>A c.1-12179C>A (n.1-12179C>A) c.6352C>A (p.Gln2118Lys) c.6898C>A (p.Gln2300Lys) c.6715C>A (p.Gln2239Lys) c.6436C>A (p.Gln2146Lys) c.5479C>A (p.Gln1827Lys) c.5470C>A (p.Gln1824Lys)
5	g.37052399C>G	CA359511160	NIPBL	c.7096C>G (p.Gln2366Glu) n.978C>G c.1-12179C>G (n.1-12179C>G) c.6352C>G (p.Gln2118Glu) c.6898C>G (p.Gln2300Glu) c.6715C>G (p.Gln2239Glu) c.6436C>G (p.Gln2146Glu) c.5479C>G (p.Gln1827Glu) c.5470C>G (p.Gln1824Glu)
5	g.37052399C>T	CA359511162	NIPBL	c.7096C>T (p.Gln2366Ter) n.978C>T c.1-12179C>T (n.1-12179C>T) c.6352C>T (p.Gln2118Ter) c.6898C>T (p.Gln2300Ter) c.6715C>T (p.Gln2239Ter) c.6436C>T (p.Gln2146Ter) c.5479C>T (p.Gln1827Ter) c.5470C>T (p.Gln1824Ter)
5	g.37052400A=	CA1539572117	NIPBL	c.7097A= (p.Gln2366=) n.979A= c.1-12178A= (n.1-12178A=) c.6353A= (p.Gln2118=) c.6899A= (p.Gln2300=) c.6716A= (p.Gln2239=) c.6437A= (p.Gln2146=) c.5480A= (p.Gln1827=) c.5471A= (p.Gln1824=)
5	g.37052400A>C	CA359511163	NIPBL	c.7097A>C (p.Gln2366Pro) n.979A>C c.1-12178A>C (n.1-12178A>C) c.6353A>C (p.Gln2118Pro) c.6899A>C (p.Gln2300Pro) c.6716A>C (p.Gln2239Pro) c.6437A>C (p.Gln2146Pro) c.5480A>C (p.Gln1827Pro) c.5471A>C (p.Gln1824Pro)	ClinVar
5	g.37052400A>G	CA3237139	NIPBL	c.7097A>G (p.Gln2366Arg) n.979A>G c.1-12178A>G (n.1-12178A>G) c.6353A>G (p.Gln2118Arg) c.6899A>G (p.Gln2300Arg) c.6716A>G (p.Gln2239Arg) c.6437A>G (p.Gln2146Arg) c.5480A>G (p.Gln1827Arg) c.5471A>G (p.Gln1824Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5	g.37052400A>T	CA359511165	NIPBL	c.7097A>T (p.Gln2366Leu) n.979A>T c.1-12178A>T (n.1-12178A>T) c.6353A>T (p.Gln2118Leu) c.6899A>T (p.Gln2300Leu) c.6716A>T (p.Gln2239Leu) c.6437A>T (p.Gln2146Leu) c.5480A>T (p.Gln1827Leu) c.5471A>T (p.Gln1824Leu)	dbSNP
5	g.37052401G>A	CA117051473	NIPBL	c.7098G>A (p.Gln2366=) n.980G>A c.1-12177G>A (n.1-12177G>A) c.6354G>A (p.Gln2118=) c.6900G>A (p.Gln2300=) c.6717G>A (p.Gln2239=) c.6438G>A (p.Gln2146=) c.5481G>A (p.Gln1827=) c.5472G>A (p.Gln1824=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5	g.37052401G>C	CA359511167	NIPBL	c.7098G>C (p.Gln2366His) n.980G>C c.1-12177G>C (n.1-12177G>C) c.6354G>C (p.Gln2118His) c.6900G>C (p.Gln2300His) c.6717G>C (p.Gln2239His) c.6438G>C (p.Gln2146His) c.5481G>C (p.Gln1827His) c.5472G>C (p.Gln1824His)
5	g.37052401G=	CA1539572124	NIPBL	c.7098G= (p.Gln2366=) n.980G= c.1-12177G= (n.1-12177G=) c.6354G= (p.Gln2118=) c.6900G= (p.Gln2300=) c.6717G= (p.Gln2239=) c.6438G= (p.Gln2146=) c.5481G= (p.Gln1827=) c.5472G= (p.Gln1824=)
5	g.37052401G>T	CA359511169	NIPBL	c.7098G>T (p.Gln2366His) n.980G>T c.1-12177G>T (n.1-12177G>T) c.6354G>T (p.Gln2118His) c.6900G>T (p.Gln2300His) c.6717G>T (p.Gln2239His) c.6438G>T (p.Gln2146His) c.5481G>T (p.Gln1827His) c.5472G>T (p.Gln1824His)	COSMIC
5	g.37052402G>A	CA359511179	NIPBL	c.7099G>A (p.Val2367Ile) n.981G>A c.1-12176G>A (n.1-12176G>A) c.6355G>A (p.Val2119Ile) c.6901G>A (p.Val2301Ile) c.6718G>A (p.Val2240Ile) c.6439G>A (p.Val2147Ile) c.5482G>A (p.Val1828Ile) c.5473G>A (p.Val1825Ile)
5	g.37052402G>C	CA359511177	NIPBL	c.7099G>C (p.Val2367Leu) n.981G>C c.1-12176G>C (n.1-12176G>C) c.6355G>C (p.Val2119Leu) c.6901G>C (p.Val2301Leu) c.6718G>C (p.Val2240Leu) c.6439G>C (p.Val2147Leu) c.5482G>C (p.Val1828Leu) c.5473G>C (p.Val1825Leu)
5	g.37052402G>T	CA359511173	NIPBL	c.7099G>T (p.Val2367Leu) n.981G>T c.1-12176G>T (n.1-12176G>T) c.6355G>T (p.Val2119Leu) c.6901G>T (p.Val2301Leu) c.6718G>T (p.Val2240Leu) c.6439G>T (p.Val2147Leu) c.5482G>T (p.Val1828Leu) c.5473G>T (p.Val1825Leu)
5	g.37052403T>A	CA359511181	NIPBL	c.7100T>A (p.Val2367Glu) n.982T>A c.1-12175T>A (n.1-12175T>A) c.6356T>A (p.Val2119Glu) c.6902T>A (p.Val2301Glu) c.6719T>A (p.Val2240Glu) c.6440T>A (p.Val2147Glu) c.5483T>A (p.Val1828Glu) c.5474T>A (p.Val1825Glu)
5	g.37052403T>C	CA359511189	NIPBL	c.7100T>C (p.Val2367Ala) n.982T>C c.1-12175T>C (n.1-12175T>C) c.6356T>C (p.Val2119Ala) c.6902T>C (p.Val2301Ala) c.6719T>C (p.Val2240Ala) c.6440T>C (p.Val2147Ala) c.5483T>C (p.Val1828Ala) c.5474T>C (p.Val1825Ala)	COSMIC COSMIC
5	g.37052403T>G	CA359511191	NIPBL	c.7100T>G (p.Val2367Gly) n.982T>G c.1-12175T>G (n.1-12175T>G) c.6356T>G (p.Val2119Gly) c.6902T>G (p.Val2301Gly) c.6719T>G (p.Val2240Gly) c.6440T>G (p.Val2147Gly) c.5483T>G (p.Val1828Gly) c.5474T>G (p.Val1825Gly)	dbSNP
5	g.37052403T=	CA1539572135	NIPBL	c.7100T= (p.Val2367=) n.982T= c.1-12175T= (n.1-12175T=) c.6356T= (p.Val2119=) c.6902T= (p.Val2301=) c.6719T= (p.Val2240=) c.6440T= (p.Val2147=) c.5483T= (p.Val1828=) c.5474T= (p.Val1825=)
5	g.37052404A>C	CA443911420	NIPBL	c.7101A>C (p.Val2367=) n.983A>C c.1-12174A>C (n.1-12174A>C) c.6357A>C (p.Val2119=) c.6903A>C (p.Val2301=) c.6720A>C (p.Val2240=) c.6441A>C (p.Val2147=) c.5484A>C (p.Val1828=) c.5475A>C (p.Val1825=)
5	g.37052404A>G	CA443911425	NIPBL	c.7101A>G (p.Val2367=) n.983A>G c.1-12174A>G (n.1-12174A>G) c.6357A>G (p.Val2119=) c.6903A>G (p.Val2301=) c.6720A>G (p.Val2240=) c.6441A>G (p.Val2147=) c.5484A>G (p.Val1828=) c.5475A>G (p.Val1825=)
5	g.37052404A>T	CA443911422	NIPBL	c.7101A>T (p.Val2367=) n.983A>T c.1-12174A>T (n.1-12174A>T) c.6357A>T (p.Val2119=) c.6903A>T (p.Val2301=) c.6720A>T (p.Val2240=) c.6441A>T (p.Val2147=) c.5484A>T (p.Val1828=) c.5475A>T (p.Val1825=)
5	g.37052405C>A	CA359511195	NIPBL	c.7102C>A (p.Gln2368Lys) n.984C>A c.1-12173C>A (n.1-12173C>A) c.6358C>A (p.Gln2120Lys) c.6904C>A (p.Gln2302Lys) c.6721C>A (p.Gln2241Lys) c.6442C>A (p.Gln2148Lys) c.5485C>A (p.Gln1829Lys) c.5476C>A (p.Gln1826Lys)
5	g.37052405C=	CA1539572140	NIPBL	c.7102C= (p.Gln2368=) n.984C= c.1-12173C= (n.1-12173C=) c.6358C= (p.Gln2120=) c.6904C= (p.Gln2302=) c.6721C= (p.Gln2241=) c.6442C= (p.Gln2148=) c.5485C= (p.Gln1829=) c.5476C= (p.Gln1826=)
5	g.37052405C>G	CA359511197	NIPBL	c.7102C>G (p.Gln2368Glu) n.984C>G c.1-12173C>G (n.1-12173C>G) c.6358C>G (p.Gln2120Glu) c.6904C>G (p.Gln2302Glu) c.6721C>G (p.Gln2241Glu) c.6442C>G (p.Gln2148Glu) c.5485C>G (p.Gln1829Glu) c.5476C>G (p.Gln1826Glu)
5	g.37052405C>T	CA272285	NIPBL	c.7102C>T (p.Gln2368Ter) n.984C>T c.1-12173C>T (n.1-12173C>T) c.6358C>T (p.Gln2120Ter) c.6904C>T (p.Gln2302Ter) c.6721C>T (p.Gln2241Ter) c.6442C>T (p.Gln2148Ter) c.5485C>T (p.Gln1829Ter) c.5476C>T (p.Gln1826Ter)	ClinVar dbSNP
5	g.37052406A>C	CA359511201	NIPBL	c.7103A>C (p.Gln2368Pro) n.985A>C c.1-12172A>C (n.1-12172A>C) c.6359A>C (p.Gln2120Pro) c.6905A>C (p.Gln2302Pro) c.6722A>C (p.Gln2241Pro) c.6443A>C (p.Gln2148Pro) c.5486A>C (p.Gln1829Pro) c.5477A>C (p.Gln1826Pro)
5	g.37052406A>G	CA359511204	NIPBL	c.7103A>G (p.Gln2368Arg) n.985A>G c.1-12172A>G (n.1-12172A>G) c.6359A>G (p.Gln2120Arg) c.6905A>G (p.Gln2302Arg) c.6722A>G (p.Gln2241Arg) c.6443A>G (p.Gln2148Arg) c.5486A>G (p.Gln1829Arg) c.5477A>G (p.Gln1826Arg)
5	g.37052406A>T	CA359511207	NIPBL	c.7103A>T (p.Gln2368Leu) n.985A>T c.1-12172A>T (n.1-12172A>T) c.6359A>T (p.Gln2120Leu) c.6905A>T (p.Gln2302Leu) c.6722A>T (p.Gln2241Leu) c.6443A>T (p.Gln2148Leu) c.5486A>T (p.Gln1829Leu) c.5477A>T (p.Gln1826Leu)
5	g.37052407A=	CA1539572148	NIPBL	c.7104A= (p.Gln2368=) n.986A= c.1-12171A= (n.1-12171A=) c.6360A= (p.Gln2120=) c.6906A= (p.Gln2302=) c.6723A= (p.Gln2241=) c.6444A= (p.Gln2148=) c.5487A= (p.Gln1829=) c.5478A= (p.Gln1826=)
5	g.37052407A>C	CA359511210	NIPBL	c.7104A>C (p.Gln2368His) n.986A>C c.1-12171A>C (n.1-12171A>C) c.6360A>C (p.Gln2120His) c.6906A>C (p.Gln2302His) c.6723A>C (p.Gln2241His) c.6444A>C (p.Gln2148His) c.5487A>C (p.Gln1829His) c.5478A>C (p.Gln1826His)
5	g.37052407A>G	CA443911439	NIPBL	c.7104A>G (p.Gln2368=) n.986A>G c.1-12171A>G (n.1-12171A>G) c.6360A>G (p.Gln2120=) c.6906A>G (p.Gln2302=) c.6723A>G (p.Gln2241=) c.6444A>G (p.Gln2148=) c.5487A>G (p.Gln1829=) c.5478A>G (p.Gln1826=)	dbSNP gnomAD v4
5	g.37052407A>T	CA359511212	NIPBL	c.7104A>T (p.Gln2368His) n.986A>T c.1-12171A>T (n.1-12171A>T) c.6360A>T (p.Gln2120His) c.6906A>T (p.Gln2302His) c.6723A>T (p.Gln2241His) c.6444A>T (p.Gln2148His) c.5487A>T (p.Gln1829His) c.5478A>T (p.Gln1826His)
5	g.37052408C>A	CA359511213	NIPBL	c.7105C>A (p.Gln2369Lys) n.987C>A c.1-12170C>A (n.1-12170C>A) c.6361C>A (p.Gln2121Lys) c.6907C>A (p.Gln2303Lys) c.6724C>A (p.Gln2242Lys) c.6445C>A (p.Gln2149Lys) c.5488C>A (p.Gln1830Lys) c.5479C>A (p.Gln1827Lys)	dbSNP gnomAD v2 gnomAD v4
5	g.37052408C=	CA1539572152	NIPBL	c.7105C= (p.Gln2369=) n.987C= c.1-12170C= (n.1-12170C=) c.6361C= (p.Gln2121=) c.6907C= (p.Gln2303=) c.6724C= (p.Gln2242=) c.6445C= (p.Gln2149=) c.5488C= (p.Gln1830=) c.5479C= (p.Gln1827=)
5	g.37052408C>G	CA359511215	NIPBL	c.7105C>G (p.Gln2369Glu) n.987C>G c.1-12170C>G (n.1-12170C>G) c.6361C>G (p.Gln2121Glu) c.6907C>G (p.Gln2303Glu) c.6724C>G (p.Gln2242Glu) c.6445C>G (p.Gln2149Glu) c.5488C>G (p.Gln1830Glu) c.5479C>G (p.Gln1827Glu)
5	g.37052408C>T	CA359511216	NIPBL	c.7105C>T (p.Gln2369Ter) n.987C>T c.1-12170C>T (n.1-12170C>T) c.6361C>T (p.Gln2121Ter) c.6907C>T (p.Gln2303Ter) c.6724C>T (p.Gln2242Ter) c.6445C>T (p.Gln2149Ter) c.5488C>T (p.Gln1830Ter) c.5479C>T (p.Gln1827Ter)
5	g.37052408_37052409delinsCA	CA1539572154	NIPBL	c.7105_7106delinsCA (p.Gln2369=) n.987_988delinsCA c.1-12170_1-12169delinsCA (n.1-12170_1-12169delinsCA) c.6361_6362delinsCA (p.Gln2121=) c.6907_6908delinsCA (p.Gln2303=) c.6724_6725delinsCA (p.Gln2242=) c.6445_6446delinsCA (p.Gln2149=) c.5488_5489delinsCA (p.Gln1830=) c.5479_5480delinsCA (p.Gln1827=)
5	g.37052409del	CA272288	NIPBL	c.7106del (p.Gln2369ArgfsTer7) n.988del c.1-12169del (n.1-12169del) c.6362del (p.Gln2121ArgfsTer7) c.6908del (p.Gln2303ArgfsTer7) c.6725del (p.Gln2242ArgfsTer7) c.6446del (p.Gln2149ArgfsTer7) c.5489del (p.Gln1830ArgfsTer7) c.5480del (p.Gln1827ArgfsTer7)	ClinVar dbSNP
5	g.37052409A>C	CA359511224	NIPBL	c.7106A>C (p.Gln2369Pro) n.988A>C c.1-12169A>C (n.1-12169A>C) c.6362A>C (p.Gln2121Pro) c.6908A>C (p.Gln2303Pro) c.6725A>C (p.Gln2242Pro) c.6446A>C (p.Gln2149Pro) c.5489A>C (p.Gln1830Pro) c.5480A>C (p.Gln1827Pro)
5	g.37052409A>G	CA359511228	NIPBL	c.7106A>G (p.Gln2369Arg) n.988A>G c.1-12169A>G (n.1-12169A>G) c.6362A>G (p.Gln2121Arg) c.6908A>G (p.Gln2303Arg) c.6725A>G (p.Gln2242Arg) c.6446A>G (p.Gln2149Arg) c.5489A>G (p.Gln1830Arg) c.5480A>G (p.Gln1827Arg)
5	g.37052409A>T	CA359511230	NIPBL	c.7106A>T (p.Gln2369Leu) n.988A>T c.1-12169A>T (n.1-12169A>T) c.6362A>T (p.Gln2121Leu) c.6908A>T (p.Gln2303Leu) c.6725A>T (p.Gln2242Leu) c.6446A>T (p.Gln2149Leu) c.5489A>T (p.Gln1830Leu) c.5480A>T (p.Gln1827Leu)
5	g.37052410G>A	CA443911457	NIPBL	c.7107G>A (p.Gln2369=) n.989G>A c.1-12168G>A (n.1-12168G>A) c.6363G>A (p.Gln2121=) c.6909G>A (p.Gln2303=) c.6726G>A (p.Gln2242=) c.6447G>A (p.Gln2149=) c.5490G>A (p.Gln1830=) c.5481G>A (p.Gln1827=)
5	g.37052410G>C	CA359511231	NIPBL	c.7107G>C (p.Gln2369His) n.989G>C c.1-12168G>C (n.1-12168G>C) c.6363G>C (p.Gln2121His) c.6909G>C (p.Gln2303His) c.6726G>C (p.Gln2242His) c.6447G>C (p.Gln2149His) c.5490G>C (p.Gln1830His) c.5481G>C (p.Gln1827His)
5	g.37052410G>T	CA359511232	NIPBL	c.7107G>T (p.Gln2369His) n.989G>T c.1-12168G>T (n.1-12168G>T) c.6363G>T (p.Gln2121His) c.6909G>T (p.Gln2303His) c.6726G>T (p.Gln2242His) c.6447G>T (p.Gln2149His) c.5490G>T (p.Gln1830His) c.5481G>T (p.Gln1827His)
5	g.37052411G>A	CA359511234	NIPBL	c.7108G>A (p.Ala2370Thr) n.990G>A c.1-12167G>A (n.1-12167G>A) c.6364G>A (p.Ala2122Thr) c.6910G>A (p.Ala2304Thr) c.6727G>A (p.Ala2243Thr) c.6448G>A (p.Ala2150Thr) c.5491G>A (p.Ala1831Thr) c.5482G>A (p.Ala1828Thr)
5	g.37052411G>C	CA359511237	NIPBL	c.7108G>C (p.Ala2370Pro) n.990G>C c.1-12167G>C (n.1-12167G>C) c.6364G>C (p.Ala2122Pro) c.6910G>C (p.Ala2304Pro) c.6727G>C (p.Ala2243Pro) c.6448G>C (p.Ala2150Pro) c.5491G>C (p.Ala1831Pro) c.5482G>C (p.Ala1828Pro)
5	g.37052411G>T	CA359511239	NIPBL	c.7108G>T (p.Ala2370Ser) n.990G>T c.1-12167G>T (n.1-12167G>T) c.6364G>T (p.Ala2122Ser) c.6910G>T (p.Ala2304Ser) c.6727G>T (p.Ala2243Ser) c.6448G>T (p.Ala2150Ser) c.5491G>T (p.Ala1831Ser) c.5482G>T (p.Ala1828Ser)	gnomAD v4
5	g.37052412C>A	CA359511240	NIPBL	c.7109C>A (p.Ala2370Glu) n.991C>A c.1-12166C>A (n.1-12166C>A) c.6365C>A (p.Ala2122Glu) c.6911C>A (p.Ala2304Glu) c.6728C>A (p.Ala2243Glu) c.6449C>A (p.Ala2150Glu) c.5492C>A (p.Ala1831Glu) c.5483C>A (p.Ala1828Glu)
5	g.37052412C>G	CA359511242	NIPBL	c.7109C>G (p.Ala2370Gly) n.991C>G c.1-12166C>G (n.1-12166C>G) c.6365C>G (p.Ala2122Gly) c.6911C>G (p.Ala2304Gly) c.6728C>G (p.Ala2243Gly) c.6449C>G (p.Ala2150Gly) c.5492C>G (p.Ala1831Gly) c.5483C>G (p.Ala1828Gly)
5	g.37052412C>T	CA359511245	NIPBL	c.7109C>T (p.Ala2370Val) n.991C>T c.1-12166C>T (n.1-12166C>T) c.6365C>T (p.Ala2122Val) c.6911C>T (p.Ala2304Val) c.6728C>T (p.Ala2243Val) c.6449C>T (p.Ala2150Val) c.5492C>T (p.Ala1831Val) c.5483C>T (p.Ala1828Val)
5	g.37052413A>C	CA443911476	NIPBL	c.7110A>C (p.Ala2370=) n.992A>C c.1-12165A>C (n.1-12165A>C) c.6366A>C (p.Ala2122=) c.6912A>C (p.Ala2304=) c.6729A>C (p.Ala2243=) c.6450A>C (p.Ala2150=) c.5493A>C (p.Ala1831=) c.5484A>C (p.Ala1828=)
5	g.37052413A>G	CA443911478	NIPBL	c.7110A>G (p.Ala2370=) n.992A>G c.1-12165A>G (n.1-12165A>G) c.6366A>G (p.Ala2122=) c.6912A>G (p.Ala2304=) c.6729A>G (p.Ala2243=) c.6450A>G (p.Ala2150=) c.5493A>G (p.Ala1831=) c.5484A>G (p.Ala1828=)	gnomAD v4
5	g.37052413A>T	CA443911474	NIPBL	c.7110A>T (p.Ala2370=) n.992A>T c.1-12165A>T (n.1-12165A>T) c.6366A>T (p.Ala2122=) c.6912A>T (p.Ala2304=) c.6729A>T (p.Ala2243=) c.6450A>T (p.Ala2150=) c.5493A>T (p.Ala1831=) c.5484A>T (p.Ala1828=)

Number of alleles fetched