Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
5	g.37060853_37060878delinsGAAGTACTCTCCATCTGAATCTGCAA	CA1539582988	NIPBL	c.7695_7720delinsGAAGTACTCTCCATCTGAATCTGCAA (p.Gln2565=) c.7548_7573delinsGAAGTACTCTCCATCTGAATCTGCAA (p.Gln2516=) c.263+1688_263+1713delinsGAAGTACTCTCCATCTGAATCTGCAA (n.263+1688_263+1713delinsGAAGTACTCTCCATCTGAATCTGCAA) n.1577_1602delinsGAAGTACTCTCCATCTGAATCTGCAA c.1-3725_1-3700delinsGAAGTACTCTCCATCTGAATCTGCAA (n.1-3725_1-3700delinsGAAGTACTCTCCATCTGAATCTGCAA) c.6951_6976delinsGAAGTACTCTCCATCTGAATCTGCAA (p.Gln2317=) c.7497_7522delinsGAAGTACTCTCCATCTGAATCTGCAA (p.Gln2499=) c.7314_7339delinsGAAGTACTCTCCATCTGAATCTGCAA (p.Gln2438=) c.7_32delinsGAAGTACTCTCCATCTGAATCTGCAA (n.7_32delinsGAAGTACTCTCCATCTGAATCTGCAA) c.7035_7060delinsGAAGTACTCTCCATCTGAATCTGCAA (p.Gln2345=) c.6078_6103delinsGAAGTACTCTCCATCTGAATCTGCAA (p.Gln2026=) c.6069_6094delinsGAAGTACTCTCCATCTGAATCTGCAA (p.Gln2023=)
5	g.37060859_37060883del	CA272317	NIPBL	c.7701_7725del (p.Ser2568MetfsTer5) c.7554_7578del (p.Ser2519MetfsTer5) c.263+1694_263+1718del (n.263+1694_263+1718del) n.1583_1607del c.1-3719_1-3695del (n.1-3719_1-3695del) c.6957_6981del (p.Ser2320MetfsTer5) c.7503_7527del (p.Ser2502MetfsTer5) c.7320_7344del (p.Ser2441MetfsTer5) c.13_37del (n.13_37del) c.7041_7065del (p.Ser2348MetfsTer5) c.6084_6108del (p.Ser2029MetfsTer5) c.6075_6099del (p.Ser2026MetfsTer5)	ClinVar dbSNP
5	g.37060859C>A	CA359518291	NIPBL	c.7701C>A (p.Tyr2567Ter) c.7554C>A (p.Tyr2518Ter) c.263+1694C>A (n.263+1694C>A) n.1583C>A c.1-3719C>A (n.1-3719C>A) c.6957C>A (p.Tyr2319Ter) c.7503C>A (p.Tyr2501Ter) c.7320C>A (p.Tyr2440Ter) c.13C>A (n.13C>A) c.7041C>A (p.Tyr2347Ter) c.6084C>A (p.Tyr2028Ter) c.6075C>A (p.Tyr2025Ter)
5	g.37060859C>G	CA359518293	NIPBL	c.7701C>G (p.Tyr2567Ter) c.7554C>G (p.Tyr2518Ter) c.263+1694C>G (n.263+1694C>G) n.1583C>G c.1-3719C>G (n.1-3719C>G) c.6957C>G (p.Tyr2319Ter) c.7503C>G (p.Tyr2501Ter) c.7320C>G (p.Tyr2440Ter) c.13C>G (n.13C>G) c.7041C>G (p.Tyr2347Ter) c.6084C>G (p.Tyr2028Ter) c.6075C>G (p.Tyr2025Ter)
5	g.37060859C>T	CA443916197	NIPBL	c.7701C>T (p.Tyr2567=) c.7554C>T (p.Tyr2518=) c.263+1694C>T (n.263+1694C>T) n.1583C>T c.1-3719C>T (n.1-3719C>T) c.6957C>T (p.Tyr2319=) c.7503C>T (p.Tyr2501=) c.7320C>T (p.Tyr2440=) c.13C>T (n.13C>T) c.7041C>T (p.Tyr2347=) c.6084C>T (p.Tyr2028=) c.6075C>T (p.Tyr2025=)	gnomAD v4
5	g.37060859_37060860delinsCT	CA1539583002	NIPBL	c.7701_7702delinsCT (p.Tyr2567=) c.7554_7555delinsCT (p.Tyr2518=) c.263+1694_263+1695delinsCT (n.263+1694_263+1695delinsCT) n.1583_1584delinsCT c.1-3719_1-3718delinsCT (n.1-3719_1-3718delinsCT) c.6957_6958delinsCT (p.Tyr2319=) c.7503_7504delinsCT (p.Tyr2501=) c.7320_7321delinsCT (p.Tyr2440=) c.13_14delinsCT (n.13_14delinsCT) c.7041_7042delinsCT (p.Tyr2347=) c.6084_6085delinsCT (p.Tyr2028=) c.6075_6076delinsCT (p.Tyr2025=)
5	g.37060860del	CA658796520	NIPBL	c.7702del (p.Ser2568LeufsTer13) c.7555del (p.Ser2519LeufsTer13) c.263+1695del (n.263+1695del) n.1584del c.1-3718del (n.1-3718del) c.6958del (p.Ser2320LeufsTer13) c.7504del (p.Ser2502LeufsTer13) c.7321del (p.Ser2441LeufsTer13) c.14del (n.14del) c.7042del (p.Ser2348LeufsTer13) c.6085del (p.Ser2029LeufsTer13) c.6076del (p.Ser2026LeufsTer13)	ClinVar dbSNP
5	g.37060860T>A	CA359518295	NIPBL	c.7702T>A (p.Ser2568Thr) c.7555T>A (p.Ser2519Thr) c.263+1695T>A (n.263+1695T>A) n.1584T>A c.1-3718T>A (n.1-3718T>A) c.6958T>A (p.Ser2320Thr) c.7504T>A (p.Ser2502Thr) c.7321T>A (p.Ser2441Thr) c.14T>A (n.14T>A) c.7042T>A (p.Ser2348Thr) c.6085T>A (p.Ser2029Thr) c.6076T>A (p.Ser2026Thr)
5	g.37060860T>C	CA359518298	NIPBL	c.7702T>C (p.Ser2568Pro) c.7555T>C (p.Ser2519Pro) c.263+1695T>C (n.263+1695T>C) n.1584T>C c.1-3718T>C (n.1-3718T>C) c.6958T>C (p.Ser2320Pro) c.7504T>C (p.Ser2502Pro) c.7321T>C (p.Ser2441Pro) c.14T>C (n.14T>C) c.7042T>C (p.Ser2348Pro) c.6085T>C (p.Ser2029Pro) c.6076T>C (p.Ser2026Pro)	gnomAD v4
5	g.37060860T>G	CA359518303	NIPBL	c.7702T>G (p.Ser2568Ala) c.7555T>G (p.Ser2519Ala) c.263+1695T>G (n.263+1695T>G) n.1584T>G c.1-3718T>G (n.1-3718T>G) c.6958T>G (p.Ser2320Ala) c.7504T>G (p.Ser2502Ala) c.7321T>G (p.Ser2441Ala) c.14T>G (n.14T>G) c.7042T>G (p.Ser2348Ala) c.6085T>G (p.Ser2029Ala) c.6076T>G (p.Ser2026Ala)
5	g.37060861C>A	CA359518306	NIPBL	c.7703C>A (p.Ser2568Tyr) c.7556C>A (p.Ser2519Tyr) c.263+1696C>A (n.263+1696C>A) n.1585C>A c.1-3717C>A (n.1-3717C>A) c.6959C>A (p.Ser2320Tyr) c.7505C>A (p.Ser2502Tyr) c.7322C>A (p.Ser2441Tyr) c.15C>A (n.15C>A) c.7043C>A (p.Ser2348Tyr) c.6086C>A (p.Ser2029Tyr) c.6077C>A (p.Ser2026Tyr)
5	g.37060861C=	CA1539583011	NIPBL	c.7703C= (p.Ser2568=) c.7556C= (p.Ser2519=) c.263+1696C= (n.263+1696C=) n.1585C= c.1-3717C= (n.1-3717C=) c.6959C= (p.Ser2320=) c.7505C= (p.Ser2502=) c.7322C= (p.Ser2441=) c.15C= (n.15C=) c.7043C= (p.Ser2348=) c.6086C= (p.Ser2029=) c.6077C= (p.Ser2026=)
5	g.37060861C>G	CA3237257	NIPBL	c.7703C>G (p.Ser2568Cys) c.7556C>G (p.Ser2519Cys) c.263+1696C>G (n.263+1696C>G) n.1585C>G c.1-3717C>G (n.1-3717C>G) c.6959C>G (p.Ser2320Cys) c.7505C>G (p.Ser2502Cys) c.7322C>G (p.Ser2441Cys) c.15C>G (n.15C>G) c.7043C>G (p.Ser2348Cys) c.6086C>G (p.Ser2029Cys) c.6077C>G (p.Ser2026Cys)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5	g.37060861C>T	CA359518312	NIPBL	c.7703C>T (p.Ser2568Phe) c.7556C>T (p.Ser2519Phe) c.263+1696C>T (n.263+1696C>T) n.1585C>T c.1-3717C>T (n.1-3717C>T) c.6959C>T (p.Ser2320Phe) c.7505C>T (p.Ser2502Phe) c.7322C>T (p.Ser2441Phe) c.15C>T (n.15C>T) c.7043C>T (p.Ser2348Phe) c.6086C>T (p.Ser2029Phe) c.6077C>T (p.Ser2026Phe)
5	g.37060862T>A	CA443916198	NIPBL	c.7704T>A (p.Ser2568=) c.7557T>A (p.Ser2519=) c.263+1697T>A (n.263+1697T>A) n.1586T>A c.1-3716T>A (n.1-3716T>A) c.6960T>A (p.Ser2320=) c.7506T>A (p.Ser2502=) c.7323T>A (p.Ser2441=) c.16T>A (n.16T>A) c.7044T>A (p.Ser2348=) c.6087T>A (p.Ser2029=) c.6078T>A (p.Ser2026=)
5	g.37060862T>C	CA443916199	NIPBL	c.7704T>C (p.Ser2568=) c.7557T>C (p.Ser2519=) c.263+1697T>C (n.263+1697T>C) n.1586T>C c.1-3716T>C (n.1-3716T>C) c.6960T>C (p.Ser2320=) c.7506T>C (p.Ser2502=) c.7323T>C (p.Ser2441=) c.16T>C (n.16T>C) c.7044T>C (p.Ser2348=) c.6087T>C (p.Ser2029=) c.6078T>C (p.Ser2026=)
5	g.37060862T>G	CA443916200	NIPBL	c.7704T>G (p.Ser2568=) c.7557T>G (p.Ser2519=) c.263+1697T>G (n.263+1697T>G) n.1586T>G c.1-3716T>G (n.1-3716T>G) c.6960T>G (p.Ser2320=) c.7506T>G (p.Ser2502=) c.7323T>G (p.Ser2441=) c.16T>G (n.16T>G) c.7044T>G (p.Ser2348=) c.6087T>G (p.Ser2029=) c.6078T>G (p.Ser2026=)
5	g.37060863C>A	CA359518314	NIPBL	c.7705C>A (p.Pro2569Thr) c.7558C>A (p.Pro2520Thr) c.263+1698C>A (n.263+1698C>A) n.1587C>A c.1-3715C>A (n.1-3715C>A) c.6961C>A (p.Pro2321Thr) c.7507C>A (p.Pro2503Thr) c.7324C>A (p.Pro2442Thr) c.17C>A (n.17C>A) c.7045C>A (p.Pro2349Thr) c.6088C>A (p.Pro2030Thr) c.6079C>A (p.Pro2027Thr)
5	g.37060863C>G	CA359518316	NIPBL	c.7705C>G (p.Pro2569Ala) c.7558C>G (p.Pro2520Ala) c.263+1698C>G (n.263+1698C>G) n.1587C>G c.1-3715C>G (n.1-3715C>G) c.6961C>G (p.Pro2321Ala) c.7507C>G (p.Pro2503Ala) c.7324C>G (p.Pro2442Ala) c.17C>G (n.17C>G) c.7045C>G (p.Pro2349Ala) c.6088C>G (p.Pro2030Ala) c.6079C>G (p.Pro2027Ala)	gnomAD v4
5	g.37060863C>T	CA359518318	NIPBL	c.7705C>T (p.Pro2569Ser) c.7558C>T (p.Pro2520Ser) c.263+1698C>T (n.263+1698C>T) n.1587C>T c.1-3715C>T (n.1-3715C>T) c.6961C>T (p.Pro2321Ser) c.7507C>T (p.Pro2503Ser) c.7324C>T (p.Pro2442Ser) c.17C>T (n.17C>T) c.7045C>T (p.Pro2349Ser) c.6088C>T (p.Pro2030Ser) c.6079C>T (p.Pro2027Ser)
5	g.37060864C>A	CA359518321	NIPBL	c.7706C>A (p.Pro2569Gln) c.7559C>A (p.Pro2520Gln) c.263+1699C>A (n.263+1699C>A) n.1588C>A c.1-3714C>A (n.1-3714C>A) c.6962C>A (p.Pro2321Gln) c.7508C>A (p.Pro2503Gln) c.7325C>A (p.Pro2442Gln) c.18C>A (n.18C>A) c.7046C>A (p.Pro2349Gln) c.6089C>A (p.Pro2030Gln) c.6080C>A (p.Pro2027Gln)
5	g.37060864C>G	CA359518326	NIPBL	c.7706C>G (p.Pro2569Arg) c.7559C>G (p.Pro2520Arg) c.263+1699C>G (n.263+1699C>G) n.1588C>G c.1-3714C>G (n.1-3714C>G) c.6962C>G (p.Pro2321Arg) c.7508C>G (p.Pro2503Arg) c.7325C>G (p.Pro2442Arg) c.18C>G (n.18C>G) c.7046C>G (p.Pro2349Arg) c.6089C>G (p.Pro2030Arg) c.6080C>G (p.Pro2027Arg)
5	g.37060864C>T	CA359518324	NIPBL	c.7706C>T (p.Pro2569Leu) c.7559C>T (p.Pro2520Leu) c.263+1699C>T (n.263+1699C>T) n.1588C>T c.1-3714C>T (n.1-3714C>T) c.6962C>T (p.Pro2321Leu) c.7508C>T (p.Pro2503Leu) c.7325C>T (p.Pro2442Leu) c.18C>T (n.18C>T) c.7046C>T (p.Pro2349Leu) c.6089C>T (p.Pro2030Leu) c.6080C>T (p.Pro2027Leu)
5	g.37060865A=	CA1539583013	NIPBL	c.7707A= (p.Pro2569=) c.7560A= (p.Pro2520=) c.263+1700A= (n.263+1700A=) n.1589A= c.1-3713A= (n.1-3713A=) c.6963A= (p.Pro2321=) c.7509A= (p.Pro2503=) c.7326A= (p.Pro2442=) c.19A= (n.19A=) c.7047A= (p.Pro2349=) c.6090A= (p.Pro2030=) c.6081A= (p.Pro2027=)
5	g.37060865A>C	CA443916202	NIPBL	c.7707A>C (p.Pro2569=) c.7560A>C (p.Pro2520=) c.263+1700A>C (n.263+1700A>C) n.1589A>C c.1-3713A>C (n.1-3713A>C) c.6963A>C (p.Pro2321=) c.7509A>C (p.Pro2503=) c.7326A>C (p.Pro2442=) c.19A>C (n.19A>C) c.7047A>C (p.Pro2349=) c.6090A>C (p.Pro2030=) c.6081A>C (p.Pro2027=)
5	g.37060865A>G	CA443916204	NIPBL	c.7707A>G (p.Pro2569=) c.7560A>G (p.Pro2520=) c.263+1700A>G (n.263+1700A>G) n.1589A>G c.1-3713A>G (n.1-3713A>G) c.6963A>G (p.Pro2321=) c.7509A>G (p.Pro2503=) c.7326A>G (p.Pro2442=) c.19A>G (n.19A>G) c.7047A>G (p.Pro2349=) c.6090A>G (p.Pro2030=) c.6081A>G (p.Pro2027=)
5	g.37060865A>T	CA117056844	NIPBL	c.7707A>T (p.Pro2569=) c.7560A>T (p.Pro2520=) c.263+1700A>T (n.263+1700A>T) n.1589A>T c.1-3713A>T (n.1-3713A>T) c.6963A>T (p.Pro2321=) c.7509A>T (p.Pro2503=) c.7326A>T (p.Pro2442=) c.19A>T (n.19A>T) c.7047A>T (p.Pro2349=) c.6090A>T (p.Pro2030=) c.6081A>T (p.Pro2027=)	dbSNP gnomAD v3 gnomAD v4
5	g.37060866T>A	CA359518329	NIPBL	c.7708T>A (p.Ser2570Thr) c.7561T>A (p.Ser2521Thr) c.263+1701T>A (n.263+1701T>A) n.1590T>A c.1-3712T>A (n.1-3712T>A) c.6964T>A (p.Ser2322Thr) c.7510T>A (p.Ser2504Thr) c.7327T>A (p.Ser2443Thr) c.20T>A (n.20T>A) c.7048T>A (p.Ser2350Thr) c.6091T>A (p.Ser2031Thr) c.6082T>A (p.Ser2028Thr)
5	g.37060866T>C	CA359518334	NIPBL	c.7708T>C (p.Ser2570Pro) c.7561T>C (p.Ser2521Pro) c.263+1701T>C (n.263+1701T>C) n.1590T>C c.1-3712T>C (n.1-3712T>C) c.6964T>C (p.Ser2322Pro) c.7510T>C (p.Ser2504Pro) c.7327T>C (p.Ser2443Pro) c.20T>C (n.20T>C) c.7048T>C (p.Ser2350Pro) c.6091T>C (p.Ser2031Pro) c.6082T>C (p.Ser2028Pro)
5	g.37060866T>G	CA359518336	NIPBL	c.7708T>G (p.Ser2570Ala) c.7561T>G (p.Ser2521Ala) c.263+1701T>G (n.263+1701T>G) n.1590T>G c.1-3712T>G (n.1-3712T>G) c.6964T>G (p.Ser2322Ala) c.7510T>G (p.Ser2504Ala) c.7327T>G (p.Ser2443Ala) c.20T>G (n.20T>G) c.7048T>G (p.Ser2350Ala) c.6091T>G (p.Ser2031Ala) c.6082T>G (p.Ser2028Ala)
5	g.37060867C>A	CA359518338	NIPBL	c.7709C>A (p.Ser2570Tyr) c.7562C>A (p.Ser2521Tyr) c.263+1702C>A (n.263+1702C>A) n.1591C>A c.1-3711C>A (n.1-3711C>A) c.6965C>A (p.Ser2322Tyr) c.7511C>A (p.Ser2504Tyr) c.7328C>A (p.Ser2443Tyr) c.21C>A (n.21C>A) c.7049C>A (p.Ser2350Tyr) c.6092C>A (p.Ser2031Tyr) c.6083C>A (p.Ser2028Tyr)
5	g.37060867C>G	CA359518340	NIPBL	c.7709C>G (p.Ser2570Cys) c.7562C>G (p.Ser2521Cys) c.263+1702C>G (n.263+1702C>G) n.1591C>G c.1-3711C>G (n.1-3711C>G) c.6965C>G (p.Ser2322Cys) c.7511C>G (p.Ser2504Cys) c.7328C>G (p.Ser2443Cys) c.21C>G (n.21C>G) c.7049C>G (p.Ser2350Cys) c.6092C>G (p.Ser2031Cys) c.6083C>G (p.Ser2028Cys)
5	g.37060867C>T	CA359518346	NIPBL	c.7709C>T (p.Ser2570Phe) c.7562C>T (p.Ser2521Phe) c.263+1702C>T (n.263+1702C>T) n.1591C>T c.1-3711C>T (n.1-3711C>T) c.6965C>T (p.Ser2322Phe) c.7511C>T (p.Ser2504Phe) c.7328C>T (p.Ser2443Phe) c.21C>T (n.21C>T) c.7049C>T (p.Ser2350Phe) c.6092C>T (p.Ser2031Phe) c.6083C>T (p.Ser2028Phe)
5	g.37060868T>A	CA443916206	NIPBL	c.7710T>A (p.Ser2570=) c.7563T>A (p.Ser2521=) c.263+1703T>A (n.263+1703T>A) n.1592T>A c.1-3710T>A (n.1-3710T>A) c.6966T>A (p.Ser2322=) c.7512T>A (p.Ser2504=) c.7329T>A (p.Ser2443=) c.22T>A (n.22T>A) c.7050T>A (p.Ser2350=) c.6093T>A (p.Ser2031=) c.6084T>A (p.Ser2028=)
5	g.37060868T>C	CA443916207	NIPBL	c.7710T>C (p.Ser2570=) c.7563T>C (p.Ser2521=) c.263+1703T>C (n.263+1703T>C) n.1592T>C c.1-3710T>C (n.1-3710T>C) c.6966T>C (p.Ser2322=) c.7512T>C (p.Ser2504=) c.7329T>C (p.Ser2443=) c.22T>C (n.22T>C) c.7050T>C (p.Ser2350=) c.6093T>C (p.Ser2031=) c.6084T>C (p.Ser2028=)
5	g.37060868T>G	CA443916208	NIPBL	c.7710T>G (p.Ser2570=) c.7563T>G (p.Ser2521=) c.263+1703T>G (n.263+1703T>G) n.1592T>G c.1-3710T>G (n.1-3710T>G) c.6966T>G (p.Ser2322=) c.7512T>G (p.Ser2504=) c.7329T>G (p.Ser2443=) c.22T>G (n.22T>G) c.7050T>G (p.Ser2350=) c.6093T>G (p.Ser2031=) c.6084T>G (p.Ser2028=)
5	g.37060869G>A	CA359518348	NIPBL	c.7711G>A (p.Glu2571Lys) c.7564G>A (p.Glu2522Lys) c.263+1704G>A (n.263+1704G>A) n.1593G>A c.1-3709G>A (n.1-3709G>A) c.6967G>A (p.Glu2323Lys) c.7513G>A (p.Glu2505Lys) c.7330G>A (p.Glu2444Lys) c.23G>A (n.23G>A) c.7051G>A (p.Glu2351Lys) c.6094G>A (p.Glu2032Lys) c.6085G>A (p.Glu2029Lys)
5	g.37060869G>C	CA359518350	NIPBL	c.7711G>C (p.Glu2571Gln) c.7564G>C (p.Glu2522Gln) c.263+1704G>C (n.263+1704G>C) n.1593G>C c.1-3709G>C (n.1-3709G>C) c.6967G>C (p.Glu2323Gln) c.7513G>C (p.Glu2505Gln) c.7330G>C (p.Glu2444Gln) c.23G>C (n.23G>C) c.7051G>C (p.Glu2351Gln) c.6094G>C (p.Glu2032Gln) c.6085G>C (p.Glu2029Gln)
5	g.37060869G>T	CA359518351	NIPBL	c.7711G>T (p.Glu2571Ter) c.7564G>T (p.Glu2522Ter) c.263+1704G>T (n.263+1704G>T) n.1593G>T c.1-3709G>T (n.1-3709G>T) c.6967G>T (p.Glu2323Ter) c.7513G>T (p.Glu2505Ter) c.7330G>T (p.Glu2444Ter) c.23G>T (n.23G>T) c.7051G>T (p.Glu2351Ter) c.6094G>T (p.Glu2032Ter) c.6085G>T (p.Glu2029Ter)
5	g.37060870A>C	CA359518353	NIPBL	c.7712A>C (p.Glu2571Ala) c.7565A>C (p.Glu2522Ala) c.263+1705A>C (n.263+1705A>C) n.1594A>C c.1-3708A>C (n.1-3708A>C) c.6968A>C (p.Glu2323Ala) c.7514A>C (p.Glu2505Ala) c.7331A>C (p.Glu2444Ala) c.24A>C (n.24A>C) c.7052A>C (p.Glu2351Ala) c.6095A>C (p.Glu2032Ala) c.6086A>C (p.Glu2029Ala)
5	g.37060870A>G	CA359518355	NIPBL	c.7712A>G (p.Glu2571Gly) c.7565A>G (p.Glu2522Gly) c.263+1705A>G (n.263+1705A>G) n.1594A>G c.1-3708A>G (n.1-3708A>G) c.6968A>G (p.Glu2323Gly) c.7514A>G (p.Glu2505Gly) c.7331A>G (p.Glu2444Gly) c.24A>G (n.24A>G) c.7052A>G (p.Glu2351Gly) c.6095A>G (p.Glu2032Gly) c.6086A>G (p.Glu2029Gly)
5	g.37060870A>T	CA359518357	NIPBL	c.7712A>T (p.Glu2571Val) c.7565A>T (p.Glu2522Val) c.263+1705A>T (n.263+1705A>T) n.1594A>T c.1-3708A>T (n.1-3708A>T) c.6968A>T (p.Glu2323Val) c.7514A>T (p.Glu2505Val) c.7331A>T (p.Glu2444Val) c.24A>T (n.24A>T) c.7052A>T (p.Glu2351Val) c.6095A>T (p.Glu2032Val) c.6086A>T (p.Glu2029Val)
5	g.37060871A>C	CA359518363	NIPBL	c.7713A>C (p.Glu2571Asp) c.7566A>C (p.Glu2522Asp) c.263+1706A>C (n.263+1706A>C) n.1595A>C c.1-3707A>C (n.1-3707A>C) c.6969A>C (p.Glu2323Asp) c.7515A>C (p.Glu2505Asp) c.7332A>C (p.Glu2444Asp) c.25A>C (n.25A>C) c.7053A>C (p.Glu2351Asp) c.6096A>C (p.Glu2032Asp) c.6087A>C (p.Glu2029Asp)
5	g.37060871A>G	CA443916213	NIPBL	c.7713A>G (p.Glu2571=) c.7566A>G (p.Glu2522=) c.263+1706A>G (n.263+1706A>G) n.1595A>G c.1-3707A>G (n.1-3707A>G) c.6969A>G (p.Glu2323=) c.7515A>G (p.Glu2505=) c.7332A>G (p.Glu2444=) c.25A>G (n.25A>G) c.7053A>G (p.Glu2351=) c.6096A>G (p.Glu2032=) c.6087A>G (p.Glu2029=)
5	g.37060871A>T	CA359518360	NIPBL	c.7713A>T (p.Glu2571Asp) c.7566A>T (p.Glu2522Asp) c.263+1706A>T (n.263+1706A>T) n.1595A>T c.1-3707A>T (n.1-3707A>T) c.6969A>T (p.Glu2323Asp) c.7515A>T (p.Glu2505Asp) c.7332A>T (p.Glu2444Asp) c.25A>T (n.25A>T) c.7053A>T (p.Glu2351Asp) c.6096A>T (p.Glu2032Asp) c.6087A>T (p.Glu2029Asp)
5	g.37060872T>A	CA359518365	NIPBL	c.7714T>A (p.Ser2572Thr) c.7567T>A (p.Ser2523Thr) c.263+1707T>A (n.263+1707T>A) n.1596T>A c.1-3706T>A (n.1-3706T>A) c.6970T>A (p.Ser2324Thr) c.7516T>A (p.Ser2506Thr) c.7333T>A (p.Ser2445Thr) c.26T>A (n.26T>A) c.7054T>A (p.Ser2352Thr) c.6097T>A (p.Ser2033Thr) c.6088T>A (p.Ser2030Thr)
5	g.37060872T>C	CA359518366	NIPBL	c.7714T>C (p.Ser2572Pro) c.7567T>C (p.Ser2523Pro) c.263+1707T>C (n.263+1707T>C) n.1596T>C c.1-3706T>C (n.1-3706T>C) c.6970T>C (p.Ser2324Pro) c.7516T>C (p.Ser2506Pro) c.7333T>C (p.Ser2445Pro) c.26T>C (n.26T>C) c.7054T>C (p.Ser2352Pro) c.6097T>C (p.Ser2033Pro) c.6088T>C (p.Ser2030Pro)
5	g.37060872T>G	CA359518377	NIPBL	c.7714T>G (p.Ser2572Ala) c.7567T>G (p.Ser2523Ala) c.263+1707T>G (n.263+1707T>G) n.1596T>G c.1-3706T>G (n.1-3706T>G) c.6970T>G (p.Ser2324Ala) c.7516T>G (p.Ser2506Ala) c.7333T>G (p.Ser2445Ala) c.26T>G (n.26T>G) c.7054T>G (p.Ser2352Ala) c.6097T>G (p.Ser2033Ala) c.6088T>G (p.Ser2030Ala)
5	g.37060873C>A	CA359518379	NIPBL	c.7715C>A (p.Ser2572Tyr) c.7568C>A (p.Ser2523Tyr) c.263+1708C>A (n.263+1708C>A) n.1597C>A c.1-3705C>A (n.1-3705C>A) c.6971C>A (p.Ser2324Tyr) c.7517C>A (p.Ser2506Tyr) c.7334C>A (p.Ser2445Tyr) c.27C>A (n.27C>A) c.7055C>A (p.Ser2352Tyr) c.6098C>A (p.Ser2033Tyr) c.6089C>A (p.Ser2030Tyr)
5	g.37060873C>G	CA359518381	NIPBL	c.7715C>G (p.Ser2572Cys) c.7568C>G (p.Ser2523Cys) c.263+1708C>G (n.263+1708C>G) n.1597C>G c.1-3705C>G (n.1-3705C>G) c.6971C>G (p.Ser2324Cys) c.7517C>G (p.Ser2506Cys) c.7334C>G (p.Ser2445Cys) c.27C>G (n.27C>G) c.7055C>G (p.Ser2352Cys) c.6098C>G (p.Ser2033Cys) c.6089C>G (p.Ser2030Cys)
5	g.37060873C>T	CA359518382	NIPBL	c.7715C>T (p.Ser2572Phe) c.7568C>T (p.Ser2523Phe) c.263+1708C>T (n.263+1708C>T) n.1597C>T c.1-3705C>T (n.1-3705C>T) c.6971C>T (p.Ser2324Phe) c.7517C>T (p.Ser2506Phe) c.7334C>T (p.Ser2445Phe) c.27C>T (n.27C>T) c.7055C>T (p.Ser2352Phe) c.6098C>T (p.Ser2033Phe) c.6089C>T (p.Ser2030Phe)
5	g.37060874T>A	CA443916218	NIPBL	c.7716T>A (p.Ser2572=) c.7569T>A (p.Ser2523=) c.263+1709T>A (n.263+1709T>A) n.1598T>A c.1-3704T>A (n.1-3704T>A) c.6972T>A (p.Ser2324=) c.7518T>A (p.Ser2506=) c.7335T>A (p.Ser2445=) c.28T>A (n.28T>A) c.7056T>A (p.Ser2352=) c.6099T>A (p.Ser2033=) c.6090T>A (p.Ser2030=)
5	g.37060874T>C	CA443916216	NIPBL	c.7716T>C (p.Ser2572=) c.7569T>C (p.Ser2523=) c.263+1709T>C (n.263+1709T>C) n.1598T>C c.1-3704T>C (n.1-3704T>C) c.6972T>C (p.Ser2324=) c.7518T>C (p.Ser2506=) c.7335T>C (p.Ser2445=) c.28T>C (n.28T>C) c.7056T>C (p.Ser2352=) c.6099T>C (p.Ser2033=) c.6090T>C (p.Ser2030=)	gnomAD v4
5	g.37060874T>G	CA443916215	NIPBL	c.7716T>G (p.Ser2572=) c.7569T>G (p.Ser2523=) c.263+1709T>G (n.263+1709T>G) n.1598T>G c.1-3704T>G (n.1-3704T>G) c.6972T>G (p.Ser2324=) c.7518T>G (p.Ser2506=) c.7335T>G (p.Ser2445=) c.28T>G (n.28T>G) c.7056T>G (p.Ser2352=) c.6099T>G (p.Ser2033=) c.6090T>G (p.Ser2030=)
5	g.37060875G>A	CA359518384	NIPBL	c.7717G>A (p.Ala2573Thr) c.7570G>A (p.Ala2524Thr) c.263+1710G>A (n.263+1710G>A) n.1599G>A c.1-3703G>A (n.1-3703G>A) c.6973G>A (p.Ala2325Thr) c.7519G>A (p.Ala2507Thr) c.7336G>A (p.Ala2446Thr) c.29G>A (n.29G>A) c.7057G>A (p.Ala2353Thr) c.6100G>A (p.Ala2034Thr) c.6091G>A (p.Ala2031Thr)	dbSNP gnomAD v4
5	g.37060875G>C	CA359518385	NIPBL	c.7717G>C (p.Ala2573Pro) c.7570G>C (p.Ala2524Pro) c.263+1710G>C (n.263+1710G>C) n.1599G>C c.1-3703G>C (n.1-3703G>C) c.6973G>C (p.Ala2325Pro) c.7519G>C (p.Ala2507Pro) c.7336G>C (p.Ala2446Pro) c.29G>C (n.29G>C) c.7057G>C (p.Ala2353Pro) c.6100G>C (p.Ala2034Pro) c.6091G>C (p.Ala2031Pro)
5	g.37060875G>T	CA359518389	NIPBL	c.7717G>T (p.Ala2573Ser) c.7570G>T (p.Ala2524Ser) c.263+1710G>T (n.263+1710G>T) n.1599G>T c.1-3703G>T (n.1-3703G>T) c.6973G>T (p.Ala2325Ser) c.7519G>T (p.Ala2507Ser) c.7336G>T (p.Ala2446Ser) c.29G>T (n.29G>T) c.7057G>T (p.Ala2353Ser) c.6100G>T (p.Ala2034Ser) c.6091G>T (p.Ala2031Ser)
5	g.37060876C>A	CA359518391	NIPBL	c.7718C>A (p.Ala2573Glu) c.7571C>A (p.Ala2524Glu) c.263+1711C>A (n.263+1711C>A) n.1600C>A c.1-3702C>A (n.1-3702C>A) c.6974C>A (p.Ala2325Glu) c.7520C>A (p.Ala2507Glu) c.7337C>A (p.Ala2446Glu) c.30C>A (n.30C>A) c.7058C>A (p.Ala2353Glu) c.6101C>A (p.Ala2034Glu) c.6092C>A (p.Ala2031Glu)	COSMIC COSMIC
5	g.37060876C>G	CA359518393	NIPBL	c.7718C>G (p.Ala2573Gly) c.7571C>G (p.Ala2524Gly) c.263+1711C>G (n.263+1711C>G) n.1600C>G c.1-3702C>G (n.1-3702C>G) c.6974C>G (p.Ala2325Gly) c.7520C>G (p.Ala2507Gly) c.7337C>G (p.Ala2446Gly) c.30C>G (n.30C>G) c.7058C>G (p.Ala2353Gly) c.6101C>G (p.Ala2034Gly) c.6092C>G (p.Ala2031Gly)
5	g.37060876C>T	CA359518395	NIPBL	c.7718C>T (p.Ala2573Val) c.7571C>T (p.Ala2524Val) c.263+1711C>T (n.263+1711C>T) n.1600C>T c.1-3702C>T (n.1-3702C>T) c.6974C>T (p.Ala2325Val) c.7520C>T (p.Ala2507Val) c.7337C>T (p.Ala2446Val) c.30C>T (n.30C>T) c.7058C>T (p.Ala2353Val) c.6101C>T (p.Ala2034Val) c.6092C>T (p.Ala2031Val)
5	g.37060877A=	CA1539583017	NIPBL	c.7719A= (p.Ala2573=) c.7572A= (p.Ala2524=) c.263+1712A= (n.263+1712A=) n.1601A= c.1-3701A= (n.1-3701A=) c.6975A= (p.Ala2325=) c.7521A= (p.Ala2507=) c.7338A= (p.Ala2446=) c.31A= (n.31A=) c.7059A= (p.Ala2353=) c.6102A= (p.Ala2034=) c.6093A= (p.Ala2031=)
5	g.37060877A>C	CA3237258	NIPBL	c.7719A>C (p.Ala2573=) c.7572A>C (p.Ala2524=) c.263+1712A>C (n.263+1712A>C) n.1601A>C c.1-3701A>C (n.1-3701A>C) c.6975A>C (p.Ala2325=) c.7521A>C (p.Ala2507=) c.7338A>C (p.Ala2446=) c.31A>C (n.31A>C) c.7059A>C (p.Ala2353=) c.6102A>C (p.Ala2034=) c.6093A>C (p.Ala2031=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5	g.37060877A>G	CA443916225	NIPBL	c.7719A>G (p.Ala2573=) c.7572A>G (p.Ala2524=) c.263+1712A>G (n.263+1712A>G) n.1601A>G c.1-3701A>G (n.1-3701A>G) c.6975A>G (p.Ala2325=) c.7521A>G (p.Ala2507=) c.7338A>G (p.Ala2446=) c.31A>G (n.31A>G) c.7059A>G (p.Ala2353=) c.6102A>G (p.Ala2034=) c.6093A>G (p.Ala2031=)	dbSNP gnomAD v3 gnomAD v4
5	g.37060877A>T	CA443916224	NIPBL	c.7719A>T (p.Ala2573=) c.7572A>T (p.Ala2524=) c.263+1712A>T (n.263+1712A>T) n.1601A>T c.1-3701A>T (n.1-3701A>T) c.6975A>T (p.Ala2325=) c.7521A>T (p.Ala2507=) c.7338A>T (p.Ala2446=) c.31A>T (n.31A>T) c.7059A>T (p.Ala2353=) c.6102A>T (p.Ala2034=) c.6093A>T (p.Ala2031=)
5	g.37060878A>C	CA359518403	NIPBL	c.7720A>C (p.Lys2574Gln) c.7573A>C (p.Lys2525Gln) c.263+1713A>C (n.263+1713A>C) n.1602A>C c.1-3700A>C (n.1-3700A>C) c.6976A>C (p.Lys2326Gln) c.7522A>C (p.Lys2508Gln) c.7339A>C (p.Lys2447Gln) c.32A>C (n.32A>C) c.7060A>C (p.Lys2354Gln) c.6103A>C (p.Lys2035Gln) c.6094A>C (p.Lys2032Gln)
5	g.37060878A>G	CA359518405	NIPBL	c.7720A>G (p.Lys2574Glu) c.7573A>G (p.Lys2525Glu) c.263+1713A>G (n.263+1713A>G) n.1602A>G c.1-3700A>G (n.1-3700A>G) c.6976A>G (p.Lys2326Glu) c.7522A>G (p.Lys2508Glu) c.7339A>G (p.Lys2447Glu) c.32A>G (n.32A>G) c.7060A>G (p.Lys2354Glu) c.6103A>G (p.Lys2035Glu) c.6094A>G (p.Lys2032Glu)
5	g.37060878A>T	CA359518401	NIPBL	c.7720A>T (p.Lys2574Ter) c.7573A>T (p.Lys2525Ter) c.263+1713A>T (n.263+1713A>T) n.1602A>T c.1-3700A>T (n.1-3700A>T) c.6976A>T (p.Lys2326Ter) c.7522A>T (p.Lys2508Ter) c.7339A>T (p.Lys2447Ter) c.32A>T (n.32A>T) c.7060A>T (p.Lys2354Ter) c.6103A>T (p.Lys2035Ter) c.6094A>T (p.Lys2032Ter)
5	g.37060879A>C	CA359518406	NIPBL	c.7721A>C (p.Lys2574Thr) c.7574A>C (p.Lys2525Thr) c.263+1714A>C (n.263+1714A>C) n.1603A>C c.1-3699A>C (n.1-3699A>C) c.6977A>C (p.Lys2326Thr) c.7523A>C (p.Lys2508Thr) c.7340A>C (p.Lys2447Thr) c.33A>C (n.33A>C) c.7061A>C (p.Lys2354Thr) c.6104A>C (p.Lys2035Thr) c.6095A>C (p.Lys2032Thr)
5	g.37060879A>G	CA359518410	NIPBL	c.7721A>G (p.Lys2574Arg) c.7574A>G (p.Lys2525Arg) c.263+1714A>G (n.263+1714A>G) n.1603A>G c.1-3699A>G (n.1-3699A>G) c.6977A>G (p.Lys2326Arg) c.7523A>G (p.Lys2508Arg) c.7340A>G (p.Lys2447Arg) c.33A>G (n.33A>G) c.7061A>G (p.Lys2354Arg) c.6104A>G (p.Lys2035Arg) c.6095A>G (p.Lys2032Arg)
5	g.37060879A>T	CA359518407	NIPBL	c.7721A>T (p.Lys2574Ile) c.7574A>T (p.Lys2525Ile) c.263+1714A>T (n.263+1714A>T) n.1603A>T c.1-3699A>T (n.1-3699A>T) c.6977A>T (p.Lys2326Ile) c.7523A>T (p.Lys2508Ile) c.7340A>T (p.Lys2447Ile) c.33A>T (n.33A>T) c.7061A>T (p.Lys2354Ile) c.6104A>T (p.Lys2035Ile) c.6095A>T (p.Lys2032Ile)
5	g.37060880A>C	CA359518411	NIPBL	c.7722A>C (p.Lys2574Asn) c.7575A>C (p.Lys2525Asn) c.263+1715A>C (n.263+1715A>C) n.1604A>C c.1-3698A>C (n.1-3698A>C) c.6978A>C (p.Lys2326Asn) c.7524A>C (p.Lys2508Asn) c.7341A>C (p.Lys2447Asn) c.34A>C (n.34A>C) c.7062A>C (p.Lys2354Asn) c.6105A>C (p.Lys2035Asn) c.6096A>C (p.Lys2032Asn)
5	g.37060880A>G	CA443916227	NIPBL	c.7722A>G (p.Lys2574=) c.7575A>G (p.Lys2525=) c.263+1715A>G (n.263+1715A>G) n.1604A>G c.1-3698A>G (n.1-3698A>G) c.6978A>G (p.Lys2326=) c.7524A>G (p.Lys2508=) c.7341A>G (p.Lys2447=) c.34A>G (n.34A>G) c.7062A>G (p.Lys2354=) c.6105A>G (p.Lys2035=) c.6096A>G (p.Lys2032=)
5	g.37060880A>T	CA359518413	NIPBL	c.7722A>T (p.Lys2574Asn) c.7575A>T (p.Lys2525Asn) c.263+1715A>T (n.263+1715A>T) n.1604A>T c.1-3698A>T (n.1-3698A>T) c.6978A>T (p.Lys2326Asn) c.7524A>T (p.Lys2508Asn) c.7341A>T (p.Lys2447Asn) c.34A>T (n.34A>T) c.7062A>T (p.Lys2354Asn) c.6105A>T (p.Lys2035Asn) c.6096A>T (p.Lys2032Asn)
5	g.37060881G>A	CA117056845	NIPBL	c.7723G>A (p.Val2575Ile) c.7576G>A (p.Val2526Ile) c.263+1716G>A (n.263+1716G>A) n.1605G>A c.1-3697G>A (n.1-3697G>A) c.6979G>A (p.Val2327Ile) c.7525G>A (p.Val2509Ile) c.7342G>A (p.Val2448Ile) c.35G>A (n.35G>A) c.7063G>A (p.Val2355Ile) c.6106G>A (p.Val2036Ile) c.6097G>A (p.Val2033Ile)	dbSNP gnomAD v3 gnomAD v4
5	g.37060881G>C	CA359518417	NIPBL	c.7723G>C (p.Val2575Leu) c.7576G>C (p.Val2526Leu) c.263+1716G>C (n.263+1716G>C) n.1605G>C c.1-3697G>C (n.1-3697G>C) c.6979G>C (p.Val2327Leu) c.7525G>C (p.Val2509Leu) c.7342G>C (p.Val2448Leu) c.35G>C (n.35G>C) c.7063G>C (p.Val2355Leu) c.6106G>C (p.Val2036Leu) c.6097G>C (p.Val2033Leu)
5	g.37060881G=	CA1539583020	NIPBL	c.7723G= (p.Val2575=) c.7576G= (p.Val2526=) c.263+1716G= (n.263+1716G=) n.1605G= c.1-3697G= (n.1-3697G=) c.6979G= (p.Val2327=) c.7525G= (p.Val2509=) c.7342G= (p.Val2448=) c.35G= (n.35G=) c.7063G= (p.Val2355=) c.6106G= (p.Val2036=) c.6097G= (p.Val2033=)
5	g.37060881G>T	CA359518422	NIPBL	c.7723G>T (p.Val2575Leu) c.7576G>T (p.Val2526Leu) c.263+1716G>T (n.263+1716G>T) n.1605G>T c.1-3697G>T (n.1-3697G>T) c.6979G>T (p.Val2327Leu) c.7525G>T (p.Val2509Leu) c.7342G>T (p.Val2448Leu) c.35G>T (n.35G>T) c.7063G>T (p.Val2355Leu) c.6106G>T (p.Val2036Leu) c.6097G>T (p.Val2033Leu)
5	g.37060882T>A	CA359518423	NIPBL	c.7724T>A (p.Val2575Glu) c.7577T>A (p.Val2526Glu) c.263+1717T>A (n.263+1717T>A) n.1606T>A c.1-3696T>A (n.1-3696T>A) c.6980T>A (p.Val2327Glu) c.7526T>A (p.Val2509Glu) c.7343T>A (p.Val2448Glu) c.36T>A (n.36T>A) c.7064T>A (p.Val2355Glu) c.6107T>A (p.Val2036Glu) c.6098T>A (p.Val2033Glu)
5	g.37060882T>C	CA359518425	NIPBL	c.7724T>C (p.Val2575Ala) c.7577T>C (p.Val2526Ala) c.263+1717T>C (n.263+1717T>C) n.1606T>C c.1-3696T>C (n.1-3696T>C) c.6980T>C (p.Val2327Ala) c.7526T>C (p.Val2509Ala) c.7343T>C (p.Val2448Ala) c.36T>C (n.36T>C) c.7064T>C (p.Val2355Ala) c.6107T>C (p.Val2036Ala) c.6098T>C (p.Val2033Ala)
5	g.37060882T>G	CA359518426	NIPBL	c.7724T>G (p.Val2575Gly) c.7577T>G (p.Val2526Gly) c.263+1717T>G (n.263+1717T>G) n.1606T>G c.1-3696T>G (n.1-3696T>G) c.6980T>G (p.Val2327Gly) c.7526T>G (p.Val2509Gly) c.7343T>G (p.Val2448Gly) c.36T>G (n.36T>G) c.7064T>G (p.Val2355Gly) c.6107T>G (p.Val2036Gly) c.6098T>G (p.Val2033Gly)
5	g.37060883A=	CA1539583023	NIPBL	c.7725A= (p.Val2575=) c.7578A= (p.Val2526=) c.263+1718A= (n.263+1718A=) n.1607A= c.1-3695A= (n.1-3695A=) c.6981A= (p.Val2327=) c.7527A= (p.Val2509=) c.7344A= (p.Val2448=) c.37A= (n.37A=) c.7065A= (p.Val2355=) c.6108A= (p.Val2036=) c.6099A= (p.Val2033=)
5	g.37060883A>C	CA443916231	NIPBL	c.7725A>C (p.Val2575=) c.7578A>C (p.Val2526=) c.263+1718A>C (n.263+1718A>C) n.1607A>C c.1-3695A>C (n.1-3695A>C) c.6981A>C (p.Val2327=) c.7527A>C (p.Val2509=) c.7344A>C (p.Val2448=) c.37A>C (n.37A>C) c.7065A>C (p.Val2355=) c.6108A>C (p.Val2036=) c.6099A>C (p.Val2033=)	dbSNP gnomAD v4
5	g.37060883A>G	CA3237259	NIPBL	c.7725A>G (p.Val2575=) c.7578A>G (p.Val2526=) c.263+1718A>G (n.263+1718A>G) n.1607A>G c.1-3695A>G (n.1-3695A>G) c.6981A>G (p.Val2327=) c.7527A>G (p.Val2509=) c.7344A>G (p.Val2448=) c.37A>G (n.37A>G) c.7065A>G (p.Val2355=) c.6108A>G (p.Val2036=) c.6099A>G (p.Val2033=)	dbSNP ExAC gnomAD v2 gnomAD v4
5	g.37060883A>T	CA443916232	NIPBL	c.7725A>T (p.Val2575=) c.7578A>T (p.Val2526=) c.263+1718A>T (n.263+1718A>T) n.1607A>T c.1-3695A>T (n.1-3695A>T) c.6981A>T (p.Val2327=) c.7527A>T (p.Val2509=) c.7344A>T (p.Val2448=) c.37A>T (n.37A>T) c.7065A>T (p.Val2355=) c.6108A>T (p.Val2036=) c.6099A>T (p.Val2033=)
5	g.37060884T>A	CA359518429	NIPBL	c.7726T>A (p.Tyr2576Asn) c.7579T>A (p.Tyr2527Asn) c.263+1719T>A (n.263+1719T>A) n.1608T>A c.1-3694T>A (n.1-3694T>A) c.6982T>A (p.Tyr2328Asn) c.7528T>A (p.Tyr2510Asn) c.7345T>A (p.Tyr2449Asn) c.38T>A (n.38T>A) c.7066T>A (p.Tyr2356Asn) c.6109T>A (p.Tyr2037Asn) c.6100T>A (p.Tyr2034Asn)
5	g.37060884T>C	CA359518431	NIPBL	c.7726T>C (p.Tyr2576His) c.7579T>C (p.Tyr2527His) c.263+1719T>C (n.263+1719T>C) n.1608T>C c.1-3694T>C (n.1-3694T>C) c.6982T>C (p.Tyr2328His) c.7528T>C (p.Tyr2510His) c.7345T>C (p.Tyr2449His) c.38T>C (n.38T>C) c.7066T>C (p.Tyr2356His) c.6109T>C (p.Tyr2037His) c.6100T>C (p.Tyr2034His)	dbSNP gnomAD v2 gnomAD v4
5	g.37060884T>G	CA359518433	NIPBL	c.7726T>G (p.Tyr2576Asp) c.7579T>G (p.Tyr2527Asp) c.263+1719T>G (n.263+1719T>G) n.1608T>G c.1-3694T>G (n.1-3694T>G) c.6982T>G (p.Tyr2328Asp) c.7528T>G (p.Tyr2510Asp) c.7345T>G (p.Tyr2449Asp) c.38T>G (n.38T>G) c.7066T>G (p.Tyr2356Asp) c.6109T>G (p.Tyr2037Asp) c.6100T>G (p.Tyr2034Asp)
5	g.37060884T=	CA1539583027	NIPBL	c.7726T= (p.Tyr2576=) c.7579T= (p.Tyr2527=) c.263+1719T= (n.263+1719T=) n.1608T= c.1-3694T= (n.1-3694T=) c.6982T= (p.Tyr2328=) c.7528T= (p.Tyr2510=) c.7345T= (p.Tyr2449=) c.38T= (n.38T=) c.7066T= (p.Tyr2356=) c.6109T= (p.Tyr2037=) c.6100T= (p.Tyr2034=)
5	g.37060885A=	CA1539583029	NIPBL	c.7727A= (p.Tyr2576=) c.7580A= (p.Tyr2527=) c.263+1720A= (n.263+1720A=) n.1609A= c.1-3693A= (n.1-3693A=) c.6983A= (p.Tyr2328=) c.7529A= (p.Tyr2510=) c.7346A= (p.Tyr2449=) c.39A= (n.39A=) c.7067A= (p.Tyr2356=) c.6110A= (p.Tyr2037=) c.6101A= (p.Tyr2034=)
5	g.37060885A>C	CA359518438	NIPBL	c.7727A>C (p.Tyr2576Ser) c.7580A>C (p.Tyr2527Ser) c.263+1720A>C (n.263+1720A>C) n.1609A>C c.1-3693A>C (n.1-3693A>C) c.6983A>C (p.Tyr2328Ser) c.7529A>C (p.Tyr2510Ser) c.7346A>C (p.Tyr2449Ser) c.39A>C (n.39A>C) c.7067A>C (p.Tyr2356Ser) c.6110A>C (p.Tyr2037Ser) c.6101A>C (p.Tyr2034Ser)
5	g.37060885A>G	CA172752	NIPBL	c.7727A>G (p.Tyr2576Cys) c.7580A>G (p.Tyr2527Cys) c.263+1720A>G (n.263+1720A>G) n.1609A>G c.1-3693A>G (n.1-3693A>G) c.6983A>G (p.Tyr2328Cys) c.7529A>G (p.Tyr2510Cys) c.7346A>G (p.Tyr2449Cys) c.39A>G (n.39A>G) c.7067A>G (p.Tyr2356Cys) c.6110A>G (p.Tyr2037Cys) c.6101A>G (p.Tyr2034Cys)	ClinVar dbSNP
5	g.37060885A>T	CA359518436	NIPBL	c.7727A>T (p.Tyr2576Phe) c.7580A>T (p.Tyr2527Phe) c.263+1720A>T (n.263+1720A>T) n.1609A>T c.1-3693A>T (n.1-3693A>T) c.6983A>T (p.Tyr2328Phe) c.7529A>T (p.Tyr2510Phe) c.7346A>T (p.Tyr2449Phe) c.39A>T (n.39A>T) c.7067A>T (p.Tyr2356Phe) c.6110A>T (p.Tyr2037Phe) c.6101A>T (p.Tyr2034Phe)	gnomAD v4
5	g.37060886T>A	CA359518441	NIPBL	c.7728T>A (p.Tyr2576Ter) c.7581T>A (p.Tyr2527Ter) c.263+1721T>A (n.263+1721T>A) n.1610T>A c.1-3692T>A (n.1-3692T>A) c.6984T>A (p.Tyr2328Ter) c.7530T>A (p.Tyr2510Ter) c.7347T>A (p.Tyr2449Ter) c.40T>A (n.40T>A) c.7068T>A (p.Tyr2356Ter) c.6111T>A (p.Tyr2037Ter) c.6102T>A (p.Tyr2034Ter)
5	g.37060886T>C	CA245753	NIPBL	c.7728T>C (p.Tyr2576=) c.7581T>C (p.Tyr2527=) c.263+1721T>C (n.263+1721T>C) n.1610T>C c.1-3692T>C (n.1-3692T>C) c.6984T>C (p.Tyr2328=) c.7530T>C (p.Tyr2510=) c.7347T>C (p.Tyr2449=) c.40T>C (n.40T>C) c.7068T>C (p.Tyr2356=) c.6111T>C (p.Tyr2037=) c.6102T>C (p.Tyr2034=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5	g.37060886T>G	CA359518445	NIPBL	c.7728T>G (p.Tyr2576Ter) c.7581T>G (p.Tyr2527Ter) c.263+1721T>G (n.263+1721T>G) n.1610T>G c.1-3692T>G (n.1-3692T>G) c.6984T>G (p.Tyr2328Ter) c.7530T>G (p.Tyr2510Ter) c.7347T>G (p.Tyr2449Ter) c.40T>G (n.40T>G) c.7068T>G (p.Tyr2356Ter) c.6111T>G (p.Tyr2037Ter) c.6102T>G (p.Tyr2034Ter)
5	g.37060886T=	CA1539583034	NIPBL	c.7728T= (p.Tyr2576=) c.7581T= (p.Tyr2527=) c.263+1721T= (n.263+1721T=) n.1610T= c.1-3692T= (n.1-3692T=) c.6984T= (p.Tyr2328=) c.7530T= (p.Tyr2510=) c.7347T= (p.Tyr2449=) c.40T= (n.40T=) c.7068T= (p.Tyr2356=) c.6111T= (p.Tyr2037=) c.6102T= (p.Tyr2034=)
5	g.37060887G>A	CA359518450	NIPBL	c.7729G>A (p.Asp2577Asn) c.7582G>A (p.Asp2528Asn) c.263+1722G>A (n.263+1722G>A) n.1611G>A c.1-3691G>A (n.1-3691G>A) c.6985G>A (p.Asp2329Asn) c.7531G>A (p.Asp2511Asn) c.7348G>A (p.Asp2450Asn) c.41G>A (n.41G>A) c.7069G>A (p.Asp2357Asn) c.6112G>A (p.Asp2038Asn) c.6103G>A (p.Asp2035Asn)
5	g.37060887G>C	CA359518453	NIPBL	c.7729G>C (p.Asp2577His) c.7582G>C (p.Asp2528His) c.263+1722G>C (n.263+1722G>C) n.1611G>C c.1-3691G>C (n.1-3691G>C) c.6985G>C (p.Asp2329His) c.7531G>C (p.Asp2511His) c.7348G>C (p.Asp2450His) c.41G>C (n.41G>C) c.7069G>C (p.Asp2357His) c.6112G>C (p.Asp2038His) c.6103G>C (p.Asp2035His)
5	g.37060887G>T	CA359518455	NIPBL	c.7729G>T (p.Asp2577Tyr) c.7582G>T (p.Asp2528Tyr) c.263+1722G>T (n.263+1722G>T) n.1611G>T c.1-3691G>T (n.1-3691G>T) c.6985G>T (p.Asp2329Tyr) c.7531G>T (p.Asp2511Tyr) c.7348G>T (p.Asp2450Tyr) c.41G>T (n.41G>T) c.7069G>T (p.Asp2357Tyr) c.6112G>T (p.Asp2038Tyr) c.6103G>T (p.Asp2035Tyr)
5	g.37060888A>C	CA359518459	NIPBL	c.7730A>C (p.Asp2577Ala) c.7583A>C (p.Asp2528Ala) c.263+1723A>C (n.263+1723A>C) n.1612A>C c.1-3690A>C (n.1-3690A>C) c.6986A>C (p.Asp2329Ala) c.7532A>C (p.Asp2511Ala) c.7349A>C (p.Asp2450Ala) c.42A>C (n.42A>C) c.7070A>C (p.Asp2357Ala) c.6113A>C (p.Asp2038Ala) c.6104A>C (p.Asp2035Ala)
5	g.37060888A>G	CA359518461	NIPBL	c.7730A>G (p.Asp2577Gly) c.7583A>G (p.Asp2528Gly) c.263+1723A>G (n.263+1723A>G) n.1612A>G c.1-3690A>G (n.1-3690A>G) c.6986A>G (p.Asp2329Gly) c.7532A>G (p.Asp2511Gly) c.7349A>G (p.Asp2450Gly) c.42A>G (n.42A>G) c.7070A>G (p.Asp2357Gly) c.6113A>G (p.Asp2038Gly) c.6104A>G (p.Asp2035Gly)	gnomAD v4
5	g.37060888A>T	CA359518465	NIPBL	c.7730A>T (p.Asp2577Val) c.7583A>T (p.Asp2528Val) c.263+1723A>T (n.263+1723A>T) n.1612A>T c.1-3690A>T (n.1-3690A>T) c.6986A>T (p.Asp2329Val) c.7532A>T (p.Asp2511Val) c.7349A>T (p.Asp2450Val) c.42A>T (n.42A>T) c.7070A>T (p.Asp2357Val) c.6113A>T (p.Asp2038Val) c.6104A>T (p.Asp2035Val)
5	g.37060889T>A	CA359518466	NIPBL	c.7731T>A (p.Asp2577Glu) c.7584T>A (p.Asp2528Glu) c.263+1724T>A (n.263+1724T>A) n.1613T>A c.1-3689T>A (n.1-3689T>A) c.6987T>A (p.Asp2329Glu) c.7533T>A (p.Asp2511Glu) c.7350T>A (p.Asp2450Glu) c.43T>A (n.43T>A) c.7071T>A (p.Asp2357Glu) c.6114T>A (p.Asp2038Glu) c.6105T>A (p.Asp2035Glu)	gnomAD v4
5	g.37060889T>C	CA443916238	NIPBL	c.7731T>C (p.Asp2577=) c.7584T>C (p.Asp2528=) c.263+1724T>C (n.263+1724T>C) n.1613T>C c.1-3689T>C (n.1-3689T>C) c.6987T>C (p.Asp2329=) c.7533T>C (p.Asp2511=) c.7350T>C (p.Asp2450=) c.43T>C (n.43T>C) c.7071T>C (p.Asp2357=) c.6114T>C (p.Asp2038=) c.6105T>C (p.Asp2035=)
5	g.37060889T>G	CA359518467	NIPBL	c.7731T>G (p.Asp2577Glu) c.7584T>G (p.Asp2528Glu) c.263+1724T>G (n.263+1724T>G) n.1613T>G c.1-3689T>G (n.1-3689T>G) c.6987T>G (p.Asp2329Glu) c.7533T>G (p.Asp2511Glu) c.7350T>G (p.Asp2450Glu) c.43T>G (n.43T>G) c.7071T>G (p.Asp2357Glu) c.6114T>G (p.Asp2038Glu) c.6105T>G (p.Asp2035Glu)
5	g.37060890A>C	CA359518470	NIPBL	c.7732A>C (p.Lys2578Gln) c.7585A>C (p.Lys2529Gln) c.263+1725A>C (n.263+1725A>C) n.1614A>C c.1-3688A>C (n.1-3688A>C) c.6988A>C (p.Lys2330Gln) c.7534A>C (p.Lys2512Gln) c.7351A>C (p.Lys2451Gln) c.44A>C (n.44A>C) c.7072A>C (p.Lys2358Gln) c.6115A>C (p.Lys2039Gln) c.6106A>C (p.Lys2036Gln)
5	g.37060890A>G	CA359518472	NIPBL	c.7732A>G (p.Lys2578Glu) c.7585A>G (p.Lys2529Glu) c.263+1725A>G (n.263+1725A>G) n.1614A>G c.1-3688A>G (n.1-3688A>G) c.6988A>G (p.Lys2330Glu) c.7534A>G (p.Lys2512Glu) c.7351A>G (p.Lys2451Glu) c.44A>G (n.44A>G) c.7072A>G (p.Lys2358Glu) c.6115A>G (p.Lys2039Glu) c.6106A>G (p.Lys2036Glu)
5	g.37060890A>T	CA359518469	NIPBL	c.7732A>T (p.Lys2578Ter) c.7585A>T (p.Lys2529Ter) c.263+1725A>T (n.263+1725A>T) n.1614A>T c.1-3688A>T (n.1-3688A>T) c.6988A>T (p.Lys2330Ter) c.7534A>T (p.Lys2512Ter) c.7351A>T (p.Lys2451Ter) c.44A>T (n.44A>T) c.7072A>T (p.Lys2358Ter) c.6115A>T (p.Lys2039Ter) c.6106A>T (p.Lys2036Ter)
5	g.37060891A>C	CA359518473	NIPBL	c.7733A>C (p.Lys2578Thr) c.7586A>C (p.Lys2529Thr) c.263+1726A>C (n.263+1726A>C) n.1615A>C c.1-3687A>C (n.1-3687A>C) c.6989A>C (p.Lys2330Thr) c.7535A>C (p.Lys2512Thr) c.7352A>C (p.Lys2451Thr) c.45A>C (n.45A>C) c.7073A>C (p.Lys2358Thr) c.6116A>C (p.Lys2039Thr) c.6107A>C (p.Lys2036Thr)
5	g.37060891A>G	CA359518475	NIPBL	c.7733A>G (p.Lys2578Arg) c.7586A>G (p.Lys2529Arg) c.263+1726A>G (n.263+1726A>G) n.1615A>G c.1-3687A>G (n.1-3687A>G) c.6989A>G (p.Lys2330Arg) c.7535A>G (p.Lys2512Arg) c.7352A>G (p.Lys2451Arg) c.45A>G (n.45A>G) c.7073A>G (p.Lys2358Arg) c.6116A>G (p.Lys2039Arg) c.6107A>G (p.Lys2036Arg)
5	g.37060891A>T	CA359518478	NIPBL	c.7733A>T (p.Lys2578Ile) c.7586A>T (p.Lys2529Ile) c.263+1726A>T (n.263+1726A>T) n.1615A>T c.1-3687A>T (n.1-3687A>T) c.6989A>T (p.Lys2330Ile) c.7535A>T (p.Lys2512Ile) c.7352A>T (p.Lys2451Ile) c.45A>T (n.45A>T) c.7073A>T (p.Lys2358Ile) c.6116A>T (p.Lys2039Ile) c.6107A>T (p.Lys2036Ile)
5	g.37060892A>C	CA359518481	NIPBL	c.7734A>C (p.Lys2578Asn) c.7587A>C (p.Lys2529Asn) c.263+1727A>C (n.263+1727A>C) n.1616A>C c.1-3686A>C (n.1-3686A>C) c.6990A>C (p.Lys2330Asn) c.7536A>C (p.Lys2512Asn) c.7353A>C (p.Lys2451Asn) c.46A>C (n.46A>C) c.7074A>C (p.Lys2358Asn) c.6117A>C (p.Lys2039Asn) c.6108A>C (p.Lys2036Asn)
5	g.37060892A>G	CA443916243	NIPBL	c.7734A>G (p.Lys2578=) c.7587A>G (p.Lys2529=) c.263+1727A>G (n.263+1727A>G) n.1616A>G c.1-3686A>G (n.1-3686A>G) c.6990A>G (p.Lys2330=) c.7536A>G (p.Lys2512=) c.7353A>G (p.Lys2451=) c.46A>G (n.46A>G) c.7074A>G (p.Lys2358=) c.6117A>G (p.Lys2039=) c.6108A>G (p.Lys2036=)	gnomAD v4
5	g.37060892A>T	CA359518483	NIPBL	c.7734A>T (p.Lys2578Asn) c.7587A>T (p.Lys2529Asn) c.263+1727A>T (n.263+1727A>T) n.1616A>T c.1-3686A>T (n.1-3686A>T) c.6990A>T (p.Lys2330Asn) c.7536A>T (p.Lys2512Asn) c.7353A>T (p.Lys2451Asn) c.46A>T (n.46A>T) c.7074A>T (p.Lys2358Asn) c.6117A>T (p.Lys2039Asn) c.6108A>T (p.Lys2036Asn)
5	g.37060893G>A	CA359518486	NIPBL	c.7735G>A (p.Ala2579Thr) c.7588G>A (p.Ala2530Thr) c.263+1728G>A (n.263+1728G>A) n.1617G>A c.1-3685G>A (n.1-3685G>A) c.6991G>A (p.Ala2331Thr) c.7537G>A (p.Ala2513Thr) c.7354G>A (p.Ala2452Thr) c.47G>A (n.47G>A) c.7075G>A (p.Ala2359Thr) c.6118G>A (p.Ala2040Thr) c.6109G>A (p.Ala2037Thr)	dbSNP
5	g.37060893G>C	CA359518488	NIPBL	c.7735G>C (p.Ala2579Pro) c.7588G>C (p.Ala2530Pro) c.263+1728G>C (n.263+1728G>C) n.1617G>C c.1-3685G>C (n.1-3685G>C) c.6991G>C (p.Ala2331Pro) c.7537G>C (p.Ala2513Pro) c.7354G>C (p.Ala2452Pro) c.47G>C (n.47G>C) c.7075G>C (p.Ala2359Pro) c.6118G>C (p.Ala2040Pro) c.6109G>C (p.Ala2037Pro)
5	g.37060893G=	CA1539583038	NIPBL	c.7735G= (p.Ala2579=) c.7588G= (p.Ala2530=) c.263+1728G= (n.263+1728G=) n.1617G= c.1-3685G= (n.1-3685G=) c.6991G= (p.Ala2331=) c.7537G= (p.Ala2513=) c.7354G= (p.Ala2452=) c.47G= (n.47G=) c.7075G= (p.Ala2359=) c.6118G= (p.Ala2040=) c.6109G= (p.Ala2037=)
5	g.37060893G>T	CA359518489	NIPBL	c.7735G>T (p.Ala2579Ser) c.7588G>T (p.Ala2530Ser) c.263+1728G>T (n.263+1728G>T) n.1617G>T c.1-3685G>T (n.1-3685G>T) c.6991G>T (p.Ala2331Ser) c.7537G>T (p.Ala2513Ser) c.7354G>T (p.Ala2452Ser) c.47G>T (n.47G>T) c.7075G>T (p.Ala2359Ser) c.6118G>T (p.Ala2040Ser) c.6109G>T (p.Ala2037Ser)
5	g.37060894C>A	CA359518491	NIPBL	c.7736C>A (p.Ala2579Glu) c.7589C>A (p.Ala2530Glu) c.263+1729C>A (n.263+1729C>A) n.1618C>A c.1-3684C>A (n.1-3684C>A) c.6992C>A (p.Ala2331Glu) c.7538C>A (p.Ala2513Glu) c.7355C>A (p.Ala2452Glu) c.48C>A (n.48C>A) c.7076C>A (p.Ala2359Glu) c.6119C>A (p.Ala2040Glu) c.6110C>A (p.Ala2037Glu)
5	g.37060894C=	CA1539583040	NIPBL	c.7736C= (p.Ala2579=) c.7589C= (p.Ala2530=) c.263+1729C= (n.263+1729C=) n.1618C= c.1-3684C= (n.1-3684C=) c.6992C= (p.Ala2331=) c.7538C= (p.Ala2513=) c.7355C= (p.Ala2452=) c.48C= (n.48C=) c.7076C= (p.Ala2359=) c.6119C= (p.Ala2040=) c.6110C= (p.Ala2037=)
5	g.37060894C>G	CA359518493	NIPBL	c.7736C>G (p.Ala2579Gly) c.7589C>G (p.Ala2530Gly) c.263+1729C>G (n.263+1729C>G) n.1618C>G c.1-3684C>G (n.1-3684C>G) c.6992C>G (p.Ala2331Gly) c.7538C>G (p.Ala2513Gly) c.7355C>G (p.Ala2452Gly) c.48C>G (n.48C>G) c.7076C>G (p.Ala2359Gly) c.6119C>G (p.Ala2040Gly) c.6110C>G (p.Ala2037Gly)	gnomAD v4
5	g.37060894C>T	CA3237260	NIPBL	c.7736C>T (p.Ala2579Val) c.7589C>T (p.Ala2530Val) c.263+1729C>T (n.263+1729C>T) n.1618C>T c.1-3684C>T (n.1-3684C>T) c.6992C>T (p.Ala2331Val) c.7538C>T (p.Ala2513Val) c.7355C>T (p.Ala2452Val) c.48C>T (n.48C>T) c.7076C>T (p.Ala2359Val) c.6119C>T (p.Ala2040Val) c.6110C>T (p.Ala2037Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5	g.37060895G>A	CA3237261	NIPBL	c.7737G>A (p.Ala2579=) c.7590G>A (p.Ala2530=) c.263+1730G>A (n.263+1730G>A) n.1619G>A c.1-3683G>A (n.1-3683G>A) c.6993G>A (p.Ala2331=) c.7539G>A (p.Ala2513=) c.7356G>A (p.Ala2452=) c.49G>A (n.49G>A) c.7077G>A (p.Ala2359=) c.6120G>A (p.Ala2040=) c.6111G>A (p.Ala2037=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5	g.37060895G>C	CA443916247	NIPBL	c.7737G>C (p.Ala2579=) c.7590G>C (p.Ala2530=) c.263+1730G>C (n.263+1730G>C) n.1619G>C c.1-3683G>C (n.1-3683G>C) c.6993G>C (p.Ala2331=) c.7539G>C (p.Ala2513=) c.7356G>C (p.Ala2452=) c.49G>C (n.49G>C) c.7077G>C (p.Ala2359=) c.6120G>C (p.Ala2040=) c.6111G>C (p.Ala2037=)
5	g.37060895G=	CA1539583041	NIPBL	c.7737G= (p.Ala2579=) c.7590G= (p.Ala2530=) c.263+1730G= (n.263+1730G=) n.1619G= c.1-3683G= (n.1-3683G=) c.6993G= (p.Ala2331=) c.7539G= (p.Ala2513=) c.7356G= (p.Ala2452=) c.49G= (n.49G=) c.7077G= (p.Ala2359=) c.6120G= (p.Ala2040=) c.6111G= (p.Ala2037=)
5	g.37060895G>T	CA443916246	NIPBL	c.7737G>T (p.Ala2579=) c.7590G>T (p.Ala2530=) c.263+1730G>T (n.263+1730G>T) n.1619G>T c.1-3683G>T (n.1-3683G>T) c.6993G>T (p.Ala2331=) c.7539G>T (p.Ala2513=) c.7356G>T (p.Ala2452=) c.49G>T (n.49G>T) c.7077G>T (p.Ala2359=) c.6120G>T (p.Ala2040=) c.6111G>T (p.Ala2037=)
5	g.37060896A=	CA1539583044	NIPBL	c.7738A= (p.Ile2580=) c.7591A= (p.Ile2531=) c.263+1731A= (n.263+1731A=) n.1620A= c.1-3682A= (n.1-3682A=) c.6994A= (p.Ile2332=) c.7540A= (p.Ile2514=) c.7357A= (p.Ile2453=) c.50A= (n.50A=) c.7078A= (p.Ile2360=) c.6121A= (p.Ile2041=) c.6112A= (p.Ile2038=)
5	g.37060896A>C	CA359518500	NIPBL	c.7738A>C (p.Ile2580Leu) c.7591A>C (p.Ile2531Leu) c.263+1731A>C (n.263+1731A>C) n.1620A>C c.1-3682A>C (n.1-3682A>C) c.6994A>C (p.Ile2332Leu) c.7540A>C (p.Ile2514Leu) c.7357A>C (p.Ile2453Leu) c.50A>C (n.50A>C) c.7078A>C (p.Ile2360Leu) c.6121A>C (p.Ile2041Leu) c.6112A>C (p.Ile2038Leu)
5	g.37060896A>G	CA3237262	NIPBL	c.7738A>G (p.Ile2580Val) c.7591A>G (p.Ile2531Val) c.263+1731A>G (n.263+1731A>G) n.1620A>G c.1-3682A>G (n.1-3682A>G) c.6994A>G (p.Ile2332Val) c.7540A>G (p.Ile2514Val) c.7357A>G (p.Ile2453Val) c.50A>G (n.50A>G) c.7078A>G (p.Ile2360Val) c.6121A>G (p.Ile2041Val) c.6112A>G (p.Ile2038Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5	g.37060896A>T	CA359518498	NIPBL	c.7738A>T (p.Ile2580Leu) c.7591A>T (p.Ile2531Leu) c.263+1731A>T (n.263+1731A>T) n.1620A>T c.1-3682A>T (n.1-3682A>T) c.6994A>T (p.Ile2332Leu) c.7540A>T (p.Ile2514Leu) c.7357A>T (p.Ile2453Leu) c.50A>T (n.50A>T) c.7078A>T (p.Ile2360Leu) c.6121A>T (p.Ile2041Leu) c.6112A>T (p.Ile2038Leu)	dbSNP
5	g.37060897T>A	CA359518504	NIPBL	c.7739T>A (p.Ile2580Lys) c.7592T>A (p.Ile2531Lys) c.263+1732T>A (n.263+1732T>A) n.1621T>A c.1-3681T>A (n.1-3681T>A) c.6995T>A (p.Ile2332Lys) c.7541T>A (p.Ile2514Lys) c.7358T>A (p.Ile2453Lys) c.51T>A (n.51T>A) c.7079T>A (p.Ile2360Lys) c.6122T>A (p.Ile2041Lys) c.6113T>A (p.Ile2038Lys)
5	g.37060897T>C	CA359518507	NIPBL	c.7739T>C (p.Ile2580Thr) c.7592T>C (p.Ile2531Thr) c.263+1732T>C (n.263+1732T>C) n.1621T>C c.1-3681T>C (n.1-3681T>C) c.6995T>C (p.Ile2332Thr) c.7541T>C (p.Ile2514Thr) c.7358T>C (p.Ile2453Thr) c.51T>C (n.51T>C) c.7079T>C (p.Ile2360Thr) c.6122T>C (p.Ile2041Thr) c.6113T>C (p.Ile2038Thr)
5	g.37060897T>G	CA359518510	NIPBL	c.7739T>G (p.Ile2580Arg) c.7592T>G (p.Ile2531Arg) c.263+1732T>G (n.263+1732T>G) n.1621T>G c.1-3681T>G (n.1-3681T>G) c.6995T>G (p.Ile2332Arg) c.7541T>G (p.Ile2514Arg) c.7358T>G (p.Ile2453Arg) c.51T>G (n.51T>G) c.7079T>G (p.Ile2360Arg) c.6122T>G (p.Ile2041Arg) c.6113T>G (p.Ile2038Arg)
5	g.37060898A>C	CA443916252	NIPBL	c.7740A>C (p.Ile2580=) c.7593A>C (p.Ile2531=) c.263+1733A>C (n.263+1733A>C) n.1622A>C c.1-3680A>C (n.1-3680A>C) c.6996A>C (p.Ile2332=) c.7542A>C (p.Ile2514=) c.7359A>C (p.Ile2453=) c.52A>C (n.52A>C) c.7080A>C (p.Ile2360=) c.6123A>C (p.Ile2041=) c.6114A>C (p.Ile2038=)
5	g.37060898A>G	CA359518513	NIPBL	c.7740A>G (p.Ile2580Met) c.7593A>G (p.Ile2531Met) c.263+1733A>G (n.263+1733A>G) n.1622A>G c.1-3680A>G (n.1-3680A>G) c.6996A>G (p.Ile2332Met) c.7542A>G (p.Ile2514Met) c.7359A>G (p.Ile2453Met) c.52A>G (n.52A>G) c.7080A>G (p.Ile2360Met) c.6123A>G (p.Ile2041Met) c.6114A>G (p.Ile2038Met)
5	g.37060898A>T	CA443916254	NIPBL	c.7740A>T (p.Ile2580=) c.7593A>T (p.Ile2531=) c.263+1733A>T (n.263+1733A>T) n.1622A>T c.1-3680A>T (n.1-3680A>T) c.6996A>T (p.Ile2332=) c.7542A>T (p.Ile2514=) c.7359A>T (p.Ile2453=) c.52A>T (n.52A>T) c.7080A>T (p.Ile2360=) c.6123A>T (p.Ile2041=) c.6114A>T (p.Ile2038=)
5	g.37060899A>C	CA359518517	NIPBL	c.7741A>C (p.Asn2581His) c.7594A>C (p.Asn2532His) c.263+1734A>C (n.263+1734A>C) n.1623A>C c.1-3679A>C (n.1-3679A>C) c.6997A>C (p.Asn2333His) c.7543A>C (p.Asn2515His) c.7360A>C (p.Asn2454His) c.53A>C (n.53A>C) c.7081A>C (p.Asn2361His) c.6124A>C (p.Asn2042His) c.6115A>C (p.Asn2039His)
5	g.37060899A>G	CA359518519	NIPBL	c.7741A>G (p.Asn2581Asp) c.7594A>G (p.Asn2532Asp) c.263+1734A>G (n.263+1734A>G) n.1623A>G c.1-3679A>G (n.1-3679A>G) c.6997A>G (p.Asn2333Asp) c.7543A>G (p.Asn2515Asp) c.7360A>G (p.Asn2454Asp) c.53A>G (n.53A>G) c.7081A>G (p.Asn2361Asp) c.6124A>G (p.Asn2042Asp) c.6115A>G (p.Asn2039Asp)
5	g.37060899A>T	CA359518521	NIPBL	c.7741A>T (p.Asn2581Tyr) c.7594A>T (p.Asn2532Tyr) c.263+1734A>T (n.263+1734A>T) n.1623A>T c.1-3679A>T (n.1-3679A>T) c.6997A>T (p.Asn2333Tyr) c.7543A>T (p.Asn2515Tyr) c.7360A>T (p.Asn2454Tyr) c.53A>T (n.53A>T) c.7081A>T (p.Asn2361Tyr) c.6124A>T (p.Asn2042Tyr) c.6115A>T (p.Asn2039Tyr)
5	g.37060900A>C	CA359518522	NIPBL	c.7742A>C (p.Asn2581Thr) c.7595A>C (p.Asn2532Thr) c.263+1735A>C (n.263+1735A>C) n.1624A>C c.1-3678A>C (n.1-3678A>C) c.6998A>C (p.Asn2333Thr) c.7544A>C (p.Asn2515Thr) c.7361A>C (p.Asn2454Thr) c.54A>C (n.54A>C) c.7082A>C (p.Asn2361Thr) c.6125A>C (p.Asn2042Thr) c.6116A>C (p.Asn2039Thr)
5	g.37060900A>G	CA359518523	NIPBL	c.7742A>G (p.Asn2581Ser) c.7595A>G (p.Asn2532Ser) c.263+1735A>G (n.263+1735A>G) n.1624A>G c.1-3678A>G (n.1-3678A>G) c.6998A>G (p.Asn2333Ser) c.7544A>G (p.Asn2515Ser) c.7361A>G (p.Asn2454Ser) c.54A>G (n.54A>G) c.7082A>G (p.Asn2361Ser) c.6125A>G (p.Asn2042Ser) c.6116A>G (p.Asn2039Ser)
5	g.37060900A>T	CA359518525	NIPBL	c.7742A>T (p.Asn2581Ile) c.7595A>T (p.Asn2532Ile) c.263+1735A>T (n.263+1735A>T) n.1624A>T c.1-3678A>T (n.1-3678A>T) c.6998A>T (p.Asn2333Ile) c.7544A>T (p.Asn2515Ile) c.7361A>T (p.Asn2454Ile) c.54A>T (n.54A>T) c.7082A>T (p.Asn2361Ile) c.6125A>T (p.Asn2042Ile) c.6116A>T (p.Asn2039Ile)
5	g.37060901C>A	CA359518527	NIPBL	c.7743C>A (p.Asn2581Lys) c.7596C>A (p.Asn2532Lys) c.263+1736C>A (n.263+1736C>A) n.1625C>A c.1-3677C>A (n.1-3677C>A) c.6999C>A (p.Asn2333Lys) c.7545C>A (p.Asn2515Lys) c.7362C>A (p.Asn2454Lys) c.55C>A (n.55C>A) c.7083C>A (p.Asn2361Lys) c.6126C>A (p.Asn2042Lys) c.6117C>A (p.Asn2039Lys)	gnomAD v4
5	g.37060901C>G	CA359518529	NIPBL	c.7743C>G (p.Asn2581Lys) c.7596C>G (p.Asn2532Lys) c.263+1736C>G (n.263+1736C>G) n.1625C>G c.1-3677C>G (n.1-3677C>G) c.6999C>G (p.Asn2333Lys) c.7545C>G (p.Asn2515Lys) c.7362C>G (p.Asn2454Lys) c.55C>G (n.55C>G) c.7083C>G (p.Asn2361Lys) c.6126C>G (p.Asn2042Lys) c.6117C>G (p.Asn2039Lys)
5	g.37060901C>T	CA443916258	NIPBL	c.7743C>T (p.Asn2581=) c.7596C>T (p.Asn2532=) c.263+1736C>T (n.263+1736C>T) n.1625C>T c.1-3677C>T (n.1-3677C>T) c.6999C>T (p.Asn2333=) c.7545C>T (p.Asn2515=) c.7362C>T (p.Asn2454=) c.55C>T (n.55C>T) c.7083C>T (p.Asn2361=) c.6126C>T (p.Asn2042=) c.6117C>T (p.Asn2039=)
5	g.37060902C>A	CA3237263	NIPBL	c.7744C>A (p.Arg2582=) c.7597C>A (p.Arg2533=) c.263+1737C>A (n.263+1737C>A) n.1626C>A c.1-3676C>A (n.1-3676C>A) c.7000C>A (p.Arg2334=) c.7546C>A (p.Arg2516=) c.7363C>A (p.Arg2455=) c.56C>A (n.56C>A) c.7084C>A (p.Arg2362=) c.6127C>A (p.Arg2043=) c.6118C>A (p.Arg2040=)	dbSNP ExAC gnomAD v2 gnomAD v4
5	g.37060902C=	CA1539583046	NIPBL	c.7744C= (p.Arg2582=) c.7597C= (p.Arg2533=) c.263+1737C= (n.263+1737C=) n.1626C= c.1-3676C= (n.1-3676C=) c.7000C= (p.Arg2334=) c.7546C= (p.Arg2516=) c.7363C= (p.Arg2455=) c.56C= (n.56C=) c.7084C= (p.Arg2362=) c.6127C= (p.Arg2043=) c.6118C= (p.Arg2040=)
5	g.37060902C>G	CA359518532	NIPBL	c.7744C>G (p.Arg2582Gly) c.7597C>G (p.Arg2533Gly) c.263+1737C>G (n.263+1737C>G) n.1626C>G c.1-3676C>G (n.1-3676C>G) c.7000C>G (p.Arg2334Gly) c.7546C>G (p.Arg2516Gly) c.7363C>G (p.Arg2455Gly) c.56C>G (n.56C>G) c.7084C>G (p.Arg2362Gly) c.6127C>G (p.Arg2043Gly) c.6118C>G (p.Arg2040Gly)
5	g.37060902C>T	CA359518530	NIPBL	c.7744C>T (p.Arg2582Ter) c.7597C>T (p.Arg2533Ter) c.263+1737C>T (n.263+1737C>T) n.1626C>T c.1-3676C>T (n.1-3676C>T) c.7000C>T (p.Arg2334Ter) c.7546C>T (p.Arg2516Ter) c.7363C>T (p.Arg2455Ter) c.56C>T (n.56C>T) c.7084C>T (p.Arg2362Ter) c.6127C>T (p.Arg2043Ter) c.6118C>T (p.Arg2040Ter)	COSMIC COSMIC
5	g.37060903G>A	CA359518538	NIPBL	c.7745G>A (p.Arg2582Gln) c.7598G>A (p.Arg2533Gln) c.263+1738G>A (n.263+1738G>A) n.1627G>A c.1-3675G>A (n.1-3675G>A) c.7001G>A (p.Arg2334Gln) c.7547G>A (p.Arg2516Gln) c.7364G>A (p.Arg2455Gln) c.57G>A (n.57G>A) c.7085G>A (p.Arg2362Gln) c.6128G>A (p.Arg2043Gln) c.6119G>A (p.Arg2040Gln)	ClinVar dbSNP gnomAD v4
5	g.37060903G>C	CA359518535	NIPBL	c.7745G>C (p.Arg2582Pro) c.7598G>C (p.Arg2533Pro) c.263+1738G>C (n.263+1738G>C) n.1627G>C c.1-3675G>C (n.1-3675G>C) c.7001G>C (p.Arg2334Pro) c.7547G>C (p.Arg2516Pro) c.7364G>C (p.Arg2455Pro) c.57G>C (n.57G>C) c.7085G>C (p.Arg2362Pro) c.6128G>C (p.Arg2043Pro) c.6119G>C (p.Arg2040Pro)
5	g.37060903G=	CA1539583047	NIPBL	c.7745G= (p.Arg2582=) c.7598G= (p.Arg2533=) c.263+1738G= (n.263+1738G=) n.1627G= c.1-3675G= (n.1-3675G=) c.7001G= (p.Arg2334=) c.7547G= (p.Arg2516=) c.7364G= (p.Arg2455=) c.57G= (n.57G=) c.7085G= (p.Arg2362=) c.6128G= (p.Arg2043=) c.6119G= (p.Arg2040=)
5	g.37060903G>T	CA359518536	NIPBL	c.7745G>T (p.Arg2582Leu) c.7598G>T (p.Arg2533Leu) c.263+1738G>T (n.263+1738G>T) n.1627G>T c.1-3675G>T (n.1-3675G>T) c.7001G>T (p.Arg2334Leu) c.7547G>T (p.Arg2516Leu) c.7364G>T (p.Arg2455Leu) c.57G>T (n.57G>T) c.7085G>T (p.Arg2362Leu) c.6128G>T (p.Arg2043Leu) c.6119G>T (p.Arg2040Leu)
5	g.37060904A>C	CA443916263	NIPBL	c.7746A>C (p.Arg2582=) c.7599A>C (p.Arg2533=) c.263+1739A>C (n.263+1739A>C) n.1628A>C c.1-3674A>C (n.1-3674A>C) c.7002A>C (p.Arg2334=) c.7548A>C (p.Arg2516=) c.7365A>C (p.Arg2455=) c.58A>C (n.58A>C) c.7086A>C (p.Arg2362=) c.6129A>C (p.Arg2043=) c.6120A>C (p.Arg2040=)
5	g.37060904A>G	CA443916264	NIPBL	c.7746A>G (p.Arg2582=) c.7599A>G (p.Arg2533=) c.263+1739A>G (n.263+1739A>G) n.1628A>G c.1-3674A>G (n.1-3674A>G) c.7002A>G (p.Arg2334=) c.7548A>G (p.Arg2516=) c.7365A>G (p.Arg2455=) c.58A>G (n.58A>G) c.7086A>G (p.Arg2362=) c.6129A>G (p.Arg2043=) c.6120A>G (p.Arg2040=)
5	g.37060904A>T	CA443916265	NIPBL	c.7746A>T (p.Arg2582=) c.7599A>T (p.Arg2533=) c.263+1739A>T (n.263+1739A>T) n.1628A>T c.1-3674A>T (n.1-3674A>T) c.7002A>T (p.Arg2334=) c.7548A>T (p.Arg2516=) c.7365A>T (p.Arg2455=) c.58A>T (n.58A>T) c.7086A>T (p.Arg2362=) c.6129A>T (p.Arg2043=) c.6120A>T (p.Arg2040=)
5	g.37060905A=	CA1539583050	NIPBL	c.7747A= (p.Lys2583=) c.7600A= (p.Lys2534=) c.263+1740A= (n.263+1740A=) n.1629A= c.1-3673A= (n.1-3673A=) c.7003A= (p.Lys2335=) c.7549A= (p.Lys2517=) c.7366A= (p.Lys2456=) c.59A= (n.59A=) c.7087A= (p.Lys2363=) c.6130A= (p.Lys2044=) c.6121A= (p.Lys2041=)
5	g.37060905A>C	CA359518540	NIPBL	c.7747A>C (p.Lys2583Gln) c.7600A>C (p.Lys2534Gln) c.263+1740A>C (n.263+1740A>C) n.1629A>C c.1-3673A>C (n.1-3673A>C) c.7003A>C (p.Lys2335Gln) c.7549A>C (p.Lys2517Gln) c.7366A>C (p.Lys2456Gln) c.59A>C (n.59A>C) c.7087A>C (p.Lys2363Gln) c.6130A>C (p.Lys2044Gln) c.6121A>C (p.Lys2041Gln)
5	g.37060905A>G	CA359518546	NIPBL	c.7747A>G (p.Lys2583Glu) c.7600A>G (p.Lys2534Glu) c.263+1740A>G (n.263+1740A>G) n.1629A>G c.1-3673A>G (n.1-3673A>G) c.7003A>G (p.Lys2335Glu) c.7549A>G (p.Lys2517Glu) c.7366A>G (p.Lys2456Glu) c.59A>G (n.59A>G) c.7087A>G (p.Lys2363Glu) c.6130A>G (p.Lys2044Glu) c.6121A>G (p.Lys2041Glu)
5	g.37060905A>T	CA359518548	NIPBL	c.7747A>T (p.Lys2583Ter) c.7600A>T (p.Lys2534Ter) c.263+1740A>T (n.263+1740A>T) n.1629A>T c.1-3673A>T (n.1-3673A>T) c.7003A>T (p.Lys2335Ter) c.7549A>T (p.Lys2517Ter) c.7366A>T (p.Lys2456Ter) c.59A>T (n.59A>T) c.7087A>T (p.Lys2363Ter) c.6130A>T (p.Lys2044Ter) c.6121A>T (p.Lys2041Ter)
5	g.37060906A=	CA1539583052	NIPBL	c.7748A= (p.Lys2583=) c.7601A= (p.Lys2534=) c.263+1741A= (n.263+1741A=) n.1630A= c.1-3672A= (n.1-3672A=) c.7004A= (p.Lys2335=) c.7550A= (p.Lys2517=) c.7367A= (p.Lys2456=) c.60A= (n.60A=) c.7088A= (p.Lys2363=) c.6131A= (p.Lys2044=) c.6122A= (p.Lys2041=)
5	g.37060906A>C	CA359518550	NIPBL	c.7748A>C (p.Lys2583Thr) c.7601A>C (p.Lys2534Thr) c.263+1741A>C (n.263+1741A>C) n.1630A>C c.1-3672A>C (n.1-3672A>C) c.7004A>C (p.Lys2335Thr) c.7550A>C (p.Lys2517Thr) c.7367A>C (p.Lys2456Thr) c.60A>C (n.60A>C) c.7088A>C (p.Lys2363Thr) c.6131A>C (p.Lys2044Thr) c.6122A>C (p.Lys2041Thr)
5	g.37060906A>G	CA3237264	NIPBL	c.7748A>G (p.Lys2583Arg) c.7601A>G (p.Lys2534Arg) c.263+1741A>G (n.263+1741A>G) n.1630A>G c.1-3672A>G (n.1-3672A>G) c.7004A>G (p.Lys2335Arg) c.7550A>G (p.Lys2517Arg) c.7367A>G (p.Lys2456Arg) c.60A>G (n.60A>G) c.7088A>G (p.Lys2363Arg) c.6131A>G (p.Lys2044Arg) c.6122A>G (p.Lys2041Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5	g.37060906A>T	CA359518552	NIPBL	c.7748A>T (p.Lys2583Ile) c.7601A>T (p.Lys2534Ile) c.263+1741A>T (n.263+1741A>T) n.1630A>T c.1-3672A>T (n.1-3672A>T) c.7004A>T (p.Lys2335Ile) c.7550A>T (p.Lys2517Ile) c.7367A>T (p.Lys2456Ile) c.60A>T (n.60A>T) c.7088A>T (p.Lys2363Ile) c.6131A>T (p.Lys2044Ile) c.6122A>T (p.Lys2041Ile)
5	g.37060907_37060913dup	CA1139658787	NIPBL	c.7749_7755dup (p.Val2586AsnfsTer17) c.7602_7608dup (p.Val2537AsnfsTer17) c.263+1742_263+1748dup (n.263+1742_263+1748dup) n.1631_1637dup c.1-3671_1-3665dup (n.1-3671_1-3665dup) c.7005_7011dup (p.Val2338AsnfsTer17) c.7551_7557dup (p.Val2520AsnfsTer17) c.7368_7374dup (p.Val2459AsnfsTer17) c.61_67dup (n.61_67dup) c.7089_7095dup (p.Val2366AsnfsTer17) c.6132_6138dup (p.Val2047AsnfsTer17) c.6123_6129dup (p.Val2044AsnfsTer17)	ClinVar dbSNP
5	g.37060907A>C	CA359518554	NIPBL	c.7749A>C (p.Lys2583Asn) c.7602A>C (p.Lys2534Asn) c.263+1742A>C (n.263+1742A>C) n.1631A>C c.1-3671A>C (n.1-3671A>C) c.7005A>C (p.Lys2335Asn) c.7551A>C (p.Lys2517Asn) c.7368A>C (p.Lys2456Asn) c.61A>C (n.61A>C) c.7089A>C (p.Lys2363Asn) c.6132A>C (p.Lys2044Asn) c.6123A>C (p.Lys2041Asn)
5	g.37060907A>G	CA443916269	NIPBL	c.7749A>G (p.Lys2583=) c.7602A>G (p.Lys2534=) c.263+1742A>G (n.263+1742A>G) n.1631A>G c.1-3671A>G (n.1-3671A>G) c.7005A>G (p.Lys2335=) c.7551A>G (p.Lys2517=) c.7368A>G (p.Lys2456=) c.61A>G (n.61A>G) c.7089A>G (p.Lys2363=) c.6132A>G (p.Lys2044=) c.6123A>G (p.Lys2041=)
5	g.37060907A>T	CA359518556	NIPBL	c.7749A>T (p.Lys2583Asn) c.7602A>T (p.Lys2534Asn) c.263+1742A>T (n.263+1742A>T) n.1631A>T c.1-3671A>T (n.1-3671A>T) c.7005A>T (p.Lys2335Asn) c.7551A>T (p.Lys2517Asn) c.7368A>T (p.Lys2456Asn) c.61A>T (n.61A>T) c.7089A>T (p.Lys2363Asn) c.6132A>T (p.Lys2044Asn) c.6123A>T (p.Lys2041Asn)
5	g.37060908A>C	CA359518558	NIPBL	c.7750A>C (p.Thr2584Pro) c.7603A>C (p.Thr2535Pro) c.263+1743A>C (n.263+1743A>C) n.1632A>C c.1-3670A>C (n.1-3670A>C) c.7006A>C (p.Thr2336Pro) c.7552A>C (p.Thr2518Pro) c.7369A>C (p.Thr2457Pro) c.62A>C (n.62A>C) c.7090A>C (p.Thr2364Pro) c.6133A>C (p.Thr2045Pro) c.6124A>C (p.Thr2042Pro)
5	g.37060908A>G	CA359518560	NIPBL	c.7750A>G (p.Thr2584Ala) c.7603A>G (p.Thr2535Ala) c.263+1743A>G (n.263+1743A>G) n.1632A>G c.1-3670A>G (n.1-3670A>G) c.7006A>G (p.Thr2336Ala) c.7552A>G (p.Thr2518Ala) c.7369A>G (p.Thr2457Ala) c.62A>G (n.62A>G) c.7090A>G (p.Thr2364Ala) c.6133A>G (p.Thr2045Ala) c.6124A>G (p.Thr2042Ala)
5	g.37060908A>T	CA359518561	NIPBL	c.7750A>T (p.Thr2584Ser) c.7603A>T (p.Thr2535Ser) c.263+1743A>T (n.263+1743A>T) n.1632A>T c.1-3670A>T (n.1-3670A>T) c.7006A>T (p.Thr2336Ser) c.7552A>T (p.Thr2518Ser) c.7369A>T (p.Thr2457Ser) c.62A>T (n.62A>T) c.7090A>T (p.Thr2364Ser) c.6133A>T (p.Thr2045Ser) c.6124A>T (p.Thr2042Ser)
5	g.37060909C>A	CA359518567	NIPBL	c.7751C>A (p.Thr2584Lys) c.7604C>A (p.Thr2535Lys) c.263+1744C>A (n.263+1744C>A) n.1633C>A c.1-3669C>A (n.1-3669C>A) c.7007C>A (p.Thr2336Lys) c.7553C>A (p.Thr2518Lys) c.7370C>A (p.Thr2457Lys) c.63C>A (n.63C>A) c.7091C>A (p.Thr2364Lys) c.6134C>A (p.Thr2045Lys) c.6125C>A (p.Thr2042Lys)
5	g.37060909C>G	CA359518564	NIPBL	c.7751C>G (p.Thr2584Arg) c.7604C>G (p.Thr2535Arg) c.263+1744C>G (n.263+1744C>G) n.1633C>G c.1-3669C>G (n.1-3669C>G) c.7007C>G (p.Thr2336Arg) c.7553C>G (p.Thr2518Arg) c.7370C>G (p.Thr2457Arg) c.63C>G (n.63C>G) c.7091C>G (p.Thr2364Arg) c.6134C>G (p.Thr2045Arg) c.6125C>G (p.Thr2042Arg)
5	g.37060909C>T	CA359518566	NIPBL	c.7751C>T (p.Thr2584Ile) c.7604C>T (p.Thr2535Ile) c.263+1744C>T (n.263+1744C>T) n.1633C>T c.1-3669C>T (n.1-3669C>T) c.7007C>T (p.Thr2336Ile) c.7553C>T (p.Thr2518Ile) c.7370C>T (p.Thr2457Ile) c.63C>T (n.63C>T) c.7091C>T (p.Thr2364Ile) c.6134C>T (p.Thr2045Ile) c.6125C>T (p.Thr2042Ile)
5	g.37060910A>C	CA443916274	NIPBL	c.7752A>C (p.Thr2584=) c.7605A>C (p.Thr2535=) c.263+1745A>C (n.263+1745A>C) n.1634A>C c.1-3668A>C (n.1-3668A>C) c.7008A>C (p.Thr2336=) c.7554A>C (p.Thr2518=) c.7371A>C (p.Thr2457=) c.64A>C (n.64A>C) c.7092A>C (p.Thr2364=) c.6135A>C (p.Thr2045=) c.6126A>C (p.Thr2042=)
5	g.37060910A>G	CA443916275	NIPBL	c.7752A>G (p.Thr2584=) c.7605A>G (p.Thr2535=) c.263+1745A>G (n.263+1745A>G) n.1634A>G c.1-3668A>G (n.1-3668A>G) c.7008A>G (p.Thr2336=) c.7554A>G (p.Thr2518=) c.7371A>G (p.Thr2457=) c.64A>G (n.64A>G) c.7092A>G (p.Thr2364=) c.6135A>G (p.Thr2045=) c.6126A>G (p.Thr2042=)
5	g.37060910A>T	CA443916276	NIPBL	c.7752A>T (p.Thr2584=) c.7605A>T (p.Thr2535=) c.263+1745A>T (n.263+1745A>T) n.1634A>T c.1-3668A>T (n.1-3668A>T) c.7008A>T (p.Thr2336=) c.7554A>T (p.Thr2518=) c.7371A>T (p.Thr2457=) c.64A>T (n.64A>T) c.7092A>T (p.Thr2364=) c.6135A>T (p.Thr2045=) c.6126A>T (p.Thr2042=)
5	g.37060912_37060914del	CA2673576218	NIPBL	c.7754_7756del (p.Gly2585del) c.7607_7609del (p.Gly2536del) c.263+1747_263+1749del (n.263+1747_263+1749del) n.1636_1638del c.1-3666_1-3664del (n.1-3666_1-3664del) c.7010_7012del (p.Gly2337del) c.7556_7558del (p.Gly2519del) c.7373_7375del (p.Gly2458del) c.66_68del (n.66_68del) c.7094_7096del (p.Gly2365del) c.6137_6139del (p.Gly2046del) c.6128_6130del (p.Gly2043del)	gnomAD v4
5	g.37060911G>A	CA359518570	NIPBL	c.7753G>A (p.Gly2585Arg) c.7606G>A (p.Gly2536Arg) c.263+1746G>A (n.263+1746G>A) n.1635G>A c.1-3667G>A (n.1-3667G>A) c.7009G>A (p.Gly2337Arg) c.7555G>A (p.Gly2519Arg) c.7372G>A (p.Gly2458Arg) c.65G>A (n.65G>A) c.7093G>A (p.Gly2365Arg) c.6136G>A (p.Gly2046Arg) c.6127G>A (p.Gly2043Arg)	COSMIC COSMIC
5	g.37060911G>C	CA359518571	NIPBL	c.7753G>C (p.Gly2585Arg) c.7606G>C (p.Gly2536Arg) c.263+1746G>C (n.263+1746G>C) n.1635G>C c.1-3667G>C (n.1-3667G>C) c.7009G>C (p.Gly2337Arg) c.7555G>C (p.Gly2519Arg) c.7372G>C (p.Gly2458Arg) c.65G>C (n.65G>C) c.7093G>C (p.Gly2365Arg) c.6136G>C (p.Gly2046Arg) c.6127G>C (p.Gly2043Arg)
5	g.37060911G>T	CA359518572	NIPBL	c.7753G>T (p.Gly2585Ter) c.7606G>T (p.Gly2536Ter) c.263+1746G>T (n.263+1746G>T) n.1635G>T c.1-3667G>T (n.1-3667G>T) c.7009G>T (p.Gly2337Ter) c.7555G>T (p.Gly2519Ter) c.7372G>T (p.Gly2458Ter) c.65G>T (n.65G>T) c.7093G>T (p.Gly2365Ter) c.6136G>T (p.Gly2046Ter) c.6127G>T (p.Gly2043Ter)
5	g.37060912G>A	CA3237265	NIPBL	c.7754G>A (p.Gly2585Glu) c.7607G>A (p.Gly2536Glu) c.263+1747G>A (n.263+1747G>A) n.1636G>A c.1-3666G>A (n.1-3666G>A) c.7010G>A (p.Gly2337Glu) c.7556G>A (p.Gly2519Glu) c.7373G>A (p.Gly2458Glu) c.66G>A (n.66G>A) c.7094G>A (p.Gly2365Glu) c.6137G>A (p.Gly2046Glu) c.6128G>A (p.Gly2043Glu)	dbSNP ExAC gnomAD v2
5	g.37060912G>C	CA359518573	NIPBL	c.7754G>C (p.Gly2585Ala) c.7607G>C (p.Gly2536Ala) c.263+1747G>C (n.263+1747G>C) n.1636G>C c.1-3666G>C (n.1-3666G>C) c.7010G>C (p.Gly2337Ala) c.7556G>C (p.Gly2519Ala) c.7373G>C (p.Gly2458Ala) c.66G>C (n.66G>C) c.7094G>C (p.Gly2365Ala) c.6137G>C (p.Gly2046Ala) c.6128G>C (p.Gly2043Ala)	gnomAD v4
5	g.37060912G=	CA1539583057	NIPBL	c.7754G= (p.Gly2585=) c.7607G= (p.Gly2536=) c.263+1747G= (n.263+1747G=) n.1636G= c.1-3666G= (n.1-3666G=) c.7010G= (p.Gly2337=) c.7556G= (p.Gly2519=) c.7373G= (p.Gly2458=) c.66G= (n.66G=) c.7094G= (p.Gly2365=) c.6137G= (p.Gly2046=) c.6128G= (p.Gly2043=)
5	g.37060912G>T	CA359518574	NIPBL	c.7754G>T (p.Gly2585Val) c.7607G>T (p.Gly2536Val) c.263+1747G>T (n.263+1747G>T) n.1636G>T c.1-3666G>T (n.1-3666G>T) c.7010G>T (p.Gly2337Val) c.7556G>T (p.Gly2519Val) c.7373G>T (p.Gly2458Val) c.66G>T (n.66G>T) c.7094G>T (p.Gly2365Val) c.6137G>T (p.Gly2046Val) c.6128G>T (p.Gly2043Val)
5	g.37060913A>C	CA443916280	NIPBL	c.7755A>C (p.Gly2585=) c.7608A>C (p.Gly2536=) c.263+1748A>C (n.263+1748A>C) n.1637A>C c.1-3665A>C (n.1-3665A>C) c.7011A>C (p.Gly2337=) c.7557A>C (p.Gly2519=) c.7374A>C (p.Gly2458=) c.67A>C (n.67A>C) c.7095A>C (p.Gly2365=) c.6138A>C (p.Gly2046=) c.6129A>C (p.Gly2043=)
5	g.37060913A>G	CA443916281	NIPBL	c.7755A>G (p.Gly2585=) c.7608A>G (p.Gly2536=) c.263+1748A>G (n.263+1748A>G) n.1637A>G c.1-3665A>G (n.1-3665A>G) c.7011A>G (p.Gly2337=) c.7557A>G (p.Gly2519=) c.7374A>G (p.Gly2458=) c.67A>G (n.67A>G) c.7095A>G (p.Gly2365=) c.6138A>G (p.Gly2046=) c.6129A>G (p.Gly2043=)	gnomAD v4
5	g.37060913A>T	CA443916282	NIPBL	c.7755A>T (p.Gly2585=) c.7608A>T (p.Gly2536=) c.263+1748A>T (n.263+1748A>T) n.1637A>T c.1-3665A>T (n.1-3665A>T) c.7011A>T (p.Gly2337=) c.7557A>T (p.Gly2519=) c.7374A>T (p.Gly2458=) c.67A>T (n.67A>T) c.7095A>T (p.Gly2365=) c.6138A>T (p.Gly2046=) c.6129A>T (p.Gly2043=)
5	g.37060914G>A	CA359518575	NIPBL	c.7756G>A (p.Val2586Ile) c.7609G>A (p.Val2537Ile) c.263+1749G>A (n.263+1749G>A) n.1638G>A c.1-3664G>A (n.1-3664G>A) c.7012G>A (p.Val2338Ile) c.7558G>A (p.Val2520Ile) c.7375G>A (p.Val2459Ile) c.68G>A (n.68G>A) c.7096G>A (p.Val2366Ile) c.6139G>A (p.Val2047Ile) c.6130G>A (p.Val2044Ile)	gnomAD v4
5	g.37060914G>C	CA359518576	NIPBL	c.7756G>C (p.Val2586Leu) c.7609G>C (p.Val2537Leu) c.263+1749G>C (n.263+1749G>C) n.1638G>C c.1-3664G>C (n.1-3664G>C) c.7012G>C (p.Val2338Leu) c.7558G>C (p.Val2520Leu) c.7375G>C (p.Val2459Leu) c.68G>C (n.68G>C) c.7096G>C (p.Val2366Leu) c.6139G>C (p.Val2047Leu) c.6130G>C (p.Val2044Leu)
5	g.37060914G>T	CA359518577	NIPBL	c.7756G>T (p.Val2586Phe) c.7609G>T (p.Val2537Phe) c.263+1749G>T (n.263+1749G>T) n.1638G>T c.1-3664G>T (n.1-3664G>T) c.7012G>T (p.Val2338Phe) c.7558G>T (p.Val2520Phe) c.7375G>T (p.Val2459Phe) c.68G>T (n.68G>T) c.7096G>T (p.Val2366Phe) c.6139G>T (p.Val2047Phe) c.6130G>T (p.Val2044Phe)
5	g.37060915T>A	CA359518579	NIPBL	c.7757T>A (p.Val2586Asp) c.7610T>A (p.Val2537Asp) c.263+1750T>A (n.263+1750T>A) n.1639T>A c.1-3663T>A (n.1-3663T>A) c.7013T>A (p.Val2338Asp) c.7559T>A (p.Val2520Asp) c.7376T>A (p.Val2459Asp) c.69T>A (n.69T>A) c.7097T>A (p.Val2366Asp) c.6140T>A (p.Val2047Asp) c.6131T>A (p.Val2044Asp)
5	g.37060915T>C	CA359518581	NIPBL	c.7757T>C (p.Val2586Ala) c.7610T>C (p.Val2537Ala) c.263+1750T>C (n.263+1750T>C) n.1639T>C c.1-3663T>C (n.1-3663T>C) c.7013T>C (p.Val2338Ala) c.7559T>C (p.Val2520Ala) c.7376T>C (p.Val2459Ala) c.69T>C (n.69T>C) c.7097T>C (p.Val2366Ala) c.6140T>C (p.Val2047Ala) c.6131T>C (p.Val2044Ala)
5	g.37060915T>G	CA3237266	NIPBL	c.7757T>G (p.Val2586Gly) c.7610T>G (p.Val2537Gly) c.263+1750T>G (n.263+1750T>G) n.1639T>G c.1-3663T>G (n.1-3663T>G) c.7013T>G (p.Val2338Gly) c.7559T>G (p.Val2520Gly) c.7376T>G (p.Val2459Gly) c.69T>G (n.69T>G) c.7097T>G (p.Val2366Gly) c.6140T>G (p.Val2047Gly) c.6131T>G (p.Val2044Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
5	g.37060915T=	CA1539583061	NIPBL	c.7757T= (p.Val2586=) c.7610T= (p.Val2537=) c.263+1750T= (n.263+1750T=) n.1639T= c.1-3663T= (n.1-3663T=) c.7013T= (p.Val2338=) c.7559T= (p.Val2520=) c.7376T= (p.Val2459=) c.69T= (n.69T=) c.7097T= (p.Val2366=) c.6140T= (p.Val2047=) c.6131T= (p.Val2044=)
5	g.37060916T>A	CA443916288	NIPBL	c.7758T>A (p.Val2586=) c.7611T>A (p.Val2537=) c.263+1751T>A (n.263+1751T>A) n.1640T>A c.1-3662T>A (n.1-3662T>A) c.7014T>A (p.Val2338=) c.7560T>A (p.Val2520=) c.7377T>A (p.Val2459=) c.70T>A (n.70T>A) c.7098T>A (p.Val2366=) c.6141T>A (p.Val2047=) c.6132T>A (p.Val2044=)
5	g.37060916T>C	CA443916289	NIPBL	c.7758T>C (p.Val2586=) c.7611T>C (p.Val2537=) c.263+1751T>C (n.263+1751T>C) n.1640T>C c.1-3662T>C (n.1-3662T>C) c.7014T>C (p.Val2338=) c.7560T>C (p.Val2520=) c.7377T>C (p.Val2459=) c.70T>C (n.70T>C) c.7098T>C (p.Val2366=) c.6141T>C (p.Val2047=) c.6132T>C (p.Val2044=)
5	g.37060916T>G	CA3237267	NIPBL	c.7758T>G (p.Val2586=) c.7611T>G (p.Val2537=) c.263+1751T>G (n.263+1751T>G) n.1640T>G c.1-3662T>G (n.1-3662T>G) c.7014T>G (p.Val2338=) c.7560T>G (p.Val2520=) c.7377T>G (p.Val2459=) c.70T>G (n.70T>G) c.7098T>G (p.Val2366=) c.6141T>G (p.Val2047=) c.6132T>G (p.Val2044=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5	g.37060916T=	CA1539583065	NIPBL	c.7758T= (p.Val2586=) c.7611T= (p.Val2537=) c.263+1751T= (n.263+1751T=) n.1640T= c.1-3662T= (n.1-3662T=) c.7014T= (p.Val2338=) c.7560T= (p.Val2520=) c.7377T= (p.Val2459=) c.70T= (n.70T=) c.7098T= (p.Val2366=) c.6141T= (p.Val2047=) c.6132T= (p.Val2044=)
5	g.37060917C>A	CA359518587	NIPBL	c.7759C>A (p.His2587Asn) c.7612C>A (p.His2538Asn) c.263+1752C>A (n.263+1752C>A) n.1641C>A c.1-3661C>A (n.1-3661C>A) c.7015C>A (p.His2339Asn) c.7561C>A (p.His2521Asn) c.7378C>A (p.His2460Asn) c.71C>A (n.71C>A) c.7099C>A (p.His2367Asn) c.6142C>A (p.His2048Asn) c.6133C>A (p.His2045Asn)
5	g.37060917C>G	CA359518584	NIPBL	c.7759C>G (p.His2587Asp) c.7612C>G (p.His2538Asp) c.263+1752C>G (n.263+1752C>G) n.1641C>G c.1-3661C>G (n.1-3661C>G) c.7015C>G (p.His2339Asp) c.7561C>G (p.His2521Asp) c.7378C>G (p.His2460Asp) c.71C>G (n.71C>G) c.7099C>G (p.His2367Asp) c.6142C>G (p.His2048Asp) c.6133C>G (p.His2045Asp)
5	g.37060917C>T	CA359518586	NIPBL	c.7759C>T (p.His2587Tyr) c.7612C>T (p.His2538Tyr) c.263+1752C>T (n.263+1752C>T) n.1641C>T c.1-3661C>T (n.1-3661C>T) c.7015C>T (p.His2339Tyr) c.7561C>T (p.His2521Tyr) c.7378C>T (p.His2460Tyr) c.71C>T (n.71C>T) c.7099C>T (p.His2367Tyr) c.6142C>T (p.His2048Tyr) c.6133C>T (p.His2045Tyr)
5	g.37060918A>C	CA359518589	NIPBL	c.7760A>C (p.His2587Pro) c.7613A>C (p.His2538Pro) c.263+1753A>C (n.263+1753A>C) n.1642A>C c.1-3660A>C (n.1-3660A>C) c.7016A>C (p.His2339Pro) c.7562A>C (p.His2521Pro) c.7379A>C (p.His2460Pro) c.72A>C (n.72A>C) c.7100A>C (p.His2367Pro) c.6143A>C (p.His2048Pro) c.6134A>C (p.His2045Pro)
5	g.37060918A>G	CA359518590	NIPBL	c.7760A>G (p.His2587Arg) c.7613A>G (p.His2538Arg) c.263+1753A>G (n.263+1753A>G) n.1642A>G c.1-3660A>G (n.1-3660A>G) c.7016A>G (p.His2339Arg) c.7562A>G (p.His2521Arg) c.7379A>G (p.His2460Arg) c.72A>G (n.72A>G) c.7100A>G (p.His2367Arg) c.6143A>G (p.His2048Arg) c.6134A>G (p.His2045Arg)
5	g.37060918A>T	CA359518591	NIPBL	c.7760A>T (p.His2587Leu) c.7613A>T (p.His2538Leu) c.263+1753A>T (n.263+1753A>T) n.1642A>T c.1-3660A>T (n.1-3660A>T) c.7016A>T (p.His2339Leu) c.7562A>T (p.His2521Leu) c.7379A>T (p.His2460Leu) c.72A>T (n.72A>T) c.7100A>T (p.His2367Leu) c.6143A>T (p.His2048Leu) c.6134A>T (p.His2045Leu)
5	g.37060919T>A	CA359518593	NIPBL	c.7761T>A (p.His2587Gln) c.7614T>A (p.His2538Gln) c.263+1754T>A (n.263+1754T>A) n.1643T>A c.1-3659T>A (n.1-3659T>A) c.7017T>A (p.His2339Gln) c.7563T>A (p.His2521Gln) c.7380T>A (p.His2460Gln) c.73T>A (n.73T>A) c.7101T>A (p.His2367Gln) c.6144T>A (p.His2048Gln) c.6135T>A (p.His2045Gln)
5	g.37060919T>C	CA443916290	NIPBL	c.7761T>C (p.His2587=) c.7614T>C (p.His2538=) c.263+1754T>C (n.263+1754T>C) n.1643T>C c.1-3659T>C (n.1-3659T>C) c.7017T>C (p.His2339=) c.7563T>C (p.His2521=) c.7380T>C (p.His2460=) c.73T>C (n.73T>C) c.7101T>C (p.His2367=) c.6144T>C (p.His2048=) c.6135T>C (p.His2045=)
5	g.37060919T>G	CA359518595	NIPBL	c.7761T>G (p.His2587Gln) c.7614T>G (p.His2538Gln) c.263+1754T>G (n.263+1754T>G) n.1643T>G c.1-3659T>G (n.1-3659T>G) c.7017T>G (p.His2339Gln) c.7563T>G (p.His2521Gln) c.7380T>G (p.His2460Gln) c.73T>G (n.73T>G) c.7101T>G (p.His2367Gln) c.6144T>G (p.His2048Gln) c.6135T>G (p.His2045Gln)
5	g.37060920T>A	CA359518597	NIPBL	c.7762T>A (p.Phe2588Ile) c.7615T>A (p.Phe2539Ile) c.263+1755T>A (n.263+1755T>A) n.1644T>A c.1-3658T>A (n.1-3658T>A) c.7018T>A (p.Phe2340Ile) c.7564T>A (p.Phe2522Ile) c.7381T>A (p.Phe2461Ile) c.74T>A (n.74T>A) c.7102T>A (p.Phe2368Ile) c.6145T>A (p.Phe2049Ile) c.6136T>A (p.Phe2046Ile)
5	g.37060920T>C	CA359518598	NIPBL	c.7762T>C (p.Phe2588Leu) c.7615T>C (p.Phe2539Leu) c.263+1755T>C (n.263+1755T>C) n.1644T>C c.1-3658T>C (n.1-3658T>C) c.7018T>C (p.Phe2340Leu) c.7564T>C (p.Phe2522Leu) c.7381T>C (p.Phe2461Leu) c.74T>C (n.74T>C) c.7102T>C (p.Phe2368Leu) c.6145T>C (p.Phe2049Leu) c.6136T>C (p.Phe2046Leu)
5	g.37060920T>G	CA359518600	NIPBL	c.7762T>G (p.Phe2588Val) c.7615T>G (p.Phe2539Val) c.263+1755T>G (n.263+1755T>G) n.1644T>G c.1-3658T>G (n.1-3658T>G) c.7018T>G (p.Phe2340Val) c.7564T>G (p.Phe2522Val) c.7381T>G (p.Phe2461Val) c.74T>G (n.74T>G) c.7102T>G (p.Phe2368Val) c.6145T>G (p.Phe2049Val) c.6136T>G (p.Phe2046Val)
5	g.37060921T>A	CA359518602	NIPBL	c.7763T>A (p.Phe2588Tyr) c.7616T>A (p.Phe2539Tyr) c.263+1756T>A (n.263+1756T>A) n.1645T>A c.1-3657T>A (n.1-3657T>A) c.7019T>A (p.Phe2340Tyr) c.7565T>A (p.Phe2522Tyr) c.7382T>A (p.Phe2461Tyr) c.75T>A (n.75T>A) c.7103T>A (p.Phe2368Tyr) c.6146T>A (p.Phe2049Tyr) c.6137T>A (p.Phe2046Tyr)
5	g.37060921T>C	CA359518604	NIPBL	c.7763T>C (p.Phe2588Ser) c.7616T>C (p.Phe2539Ser) c.263+1756T>C (n.263+1756T>C) n.1645T>C c.1-3657T>C (n.1-3657T>C) c.7019T>C (p.Phe2340Ser) c.7565T>C (p.Phe2522Ser) c.7382T>C (p.Phe2461Ser) c.75T>C (n.75T>C) c.7103T>C (p.Phe2368Ser) c.6146T>C (p.Phe2049Ser) c.6137T>C (p.Phe2046Ser)
5	g.37060921T>G	CA359518607	NIPBL	c.7763T>G (p.Phe2588Cys) c.7616T>G (p.Phe2539Cys) c.263+1756T>G (n.263+1756T>G) n.1645T>G c.1-3657T>G (n.1-3657T>G) c.7019T>G (p.Phe2340Cys) c.7565T>G (p.Phe2522Cys) c.7382T>G (p.Phe2461Cys) c.75T>G (n.75T>G) c.7103T>G (p.Phe2368Cys) c.6146T>G (p.Phe2049Cys) c.6137T>G (p.Phe2046Cys)
5	g.37060922T>A	CA359518616	NIPBL	c.7764T>A (p.Phe2588Leu) c.7617T>A (p.Phe2539Leu) c.263+1757T>A (n.263+1757T>A) n.1646T>A c.1-3656T>A (n.1-3656T>A) c.7020T>A (p.Phe2340Leu) c.7566T>A (p.Phe2522Leu) c.7383T>A (p.Phe2461Leu) c.76T>A (n.76T>A) c.7104T>A (p.Phe2368Leu) c.6147T>A (p.Phe2049Leu) c.6138T>A (p.Phe2046Leu)
5	g.37060922T>C	CA443916295	NIPBL	c.7764T>C (p.Phe2588=) c.7617T>C (p.Phe2539=) c.263+1757T>C (n.263+1757T>C) n.1646T>C c.1-3656T>C (n.1-3656T>C) c.7020T>C (p.Phe2340=) c.7566T>C (p.Phe2522=) c.7383T>C (p.Phe2461=) c.76T>C (n.76T>C) c.7104T>C (p.Phe2368=) c.6147T>C (p.Phe2049=) c.6138T>C (p.Phe2046=)
5	g.37060922T>G	CA359518614	NIPBL	c.7764T>G (p.Phe2588Leu) c.7617T>G (p.Phe2539Leu) c.263+1757T>G (n.263+1757T>G) n.1646T>G c.1-3656T>G (n.1-3656T>G) c.7020T>G (p.Phe2340Leu) c.7566T>G (p.Phe2522Leu) c.7383T>G (p.Phe2461Leu) c.76T>G (n.76T>G) c.7104T>G (p.Phe2368Leu) c.6147T>G (p.Phe2049Leu) c.6138T>G (p.Phe2046Leu)
5	g.37060923C>A	CA359518620	NIPBL	c.7765C>A (p.His2589Asn) c.7618C>A (p.His2540Asn) c.263+1758C>A (n.263+1758C>A) n.1647C>A c.1-3655C>A (n.1-3655C>A) c.7021C>A (p.His2341Asn) c.7567C>A (p.His2523Asn) c.7384C>A (p.His2462Asn) c.77C>A (n.77C>A) c.7105C>A (p.His2369Asn) c.6148C>A (p.His2050Asn) c.6139C>A (p.His2047Asn)
5	g.37060923C=	CA1539583067	NIPBL	c.7765C= (p.His2589=) c.7618C= (p.His2540=) c.263+1758C= (n.263+1758C=) n.1647C= c.1-3655C= (n.1-3655C=) c.7021C= (p.His2341=) c.7567C= (p.His2523=) c.7384C= (p.His2462=) c.77C= (n.77C=) c.7105C= (p.His2369=) c.6148C= (p.His2050=) c.6139C= (p.His2047=)
5	g.37060923C>G	CA359518621	NIPBL	c.7765C>G (p.His2589Asp) c.7618C>G (p.His2540Asp) c.263+1758C>G (n.263+1758C>G) n.1647C>G c.1-3655C>G (n.1-3655C>G) c.7021C>G (p.His2341Asp) c.7567C>G (p.His2523Asp) c.7384C>G (p.His2462Asp) c.77C>G (n.77C>G) c.7105C>G (p.His2369Asp) c.6148C>G (p.His2050Asp) c.6139C>G (p.His2047Asp)
5	g.37060923C>T	CA359518624	NIPBL	c.7765C>T (p.His2589Tyr) c.7618C>T (p.His2540Tyr) c.263+1758C>T (n.263+1758C>T) n.1647C>T c.1-3655C>T (n.1-3655C>T) c.7021C>T (p.His2341Tyr) c.7567C>T (p.His2523Tyr) c.7384C>T (p.His2462Tyr) c.77C>T (n.77C>T) c.7105C>T (p.His2369Tyr) c.6148C>T (p.His2050Tyr) c.6139C>T (p.His2047Tyr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5	g.37060924A>C	CA359518626	NIPBL	c.7766A>C (p.His2589Pro) c.7619A>C (p.His2540Pro) c.263+1759A>C (n.263+1759A>C) n.1648A>C c.1-3654A>C (n.1-3654A>C) c.7022A>C (p.His2341Pro) c.7568A>C (p.His2523Pro) c.7385A>C (p.His2462Pro) c.78A>C (n.78A>C) c.7106A>C (p.His2369Pro) c.6149A>C (p.His2050Pro) c.6140A>C (p.His2047Pro)
5	g.37060924A>G	CA359518627	NIPBL	c.7766A>G (p.His2589Arg) c.7619A>G (p.His2540Arg) c.263+1759A>G (n.263+1759A>G) n.1648A>G c.1-3654A>G (n.1-3654A>G) c.7022A>G (p.His2341Arg) c.7568A>G (p.His2523Arg) c.7385A>G (p.His2462Arg) c.78A>G (n.78A>G) c.7106A>G (p.His2369Arg) c.6149A>G (p.His2050Arg) c.6140A>G (p.His2047Arg)	gnomAD v4
5	g.37060924A>T	CA359518630	NIPBL	c.7766A>T (p.His2589Leu) c.7619A>T (p.His2540Leu) c.263+1759A>T (n.263+1759A>T) n.1648A>T c.1-3654A>T (n.1-3654A>T) c.7022A>T (p.His2341Leu) c.7568A>T (p.His2523Leu) c.7385A>T (p.His2462Leu) c.78A>T (n.78A>T) c.7106A>T (p.His2369Leu) c.6149A>T (p.His2050Leu) c.6140A>T (p.His2047Leu)
5	g.37060925T>A	CA359518631	NIPBL	c.7767T>A (p.His2589Gln) c.7620T>A (p.His2540Gln) c.263+1760T>A (n.263+1760T>A) n.1649T>A c.1-3653T>A (n.1-3653T>A) c.7023T>A (p.His2341Gln) c.7569T>A (p.His2523Gln) c.7386T>A (p.His2462Gln) c.79T>A (n.79T>A) c.7107T>A (p.His2369Gln) c.6150T>A (p.His2050Gln) c.6141T>A (p.His2047Gln)
5	g.37060925T>C	CA443916298	NIPBL	c.7767T>C (p.His2589=) c.7620T>C (p.His2540=) c.263+1760T>C (n.263+1760T>C) n.1649T>C c.1-3653T>C (n.1-3653T>C) c.7023T>C (p.His2341=) c.7569T>C (p.His2523=) c.7386T>C (p.His2462=) c.79T>C (n.79T>C) c.7107T>C (p.His2369=) c.6150T>C (p.His2050=) c.6141T>C (p.His2047=)	dbSNP
5	g.37060925T>G	CA359518632	NIPBL	c.7767T>G (p.His2589Gln) c.7620T>G (p.His2540Gln) c.263+1760T>G (n.263+1760T>G) n.1649T>G c.1-3653T>G (n.1-3653T>G) c.7023T>G (p.His2341Gln) c.7569T>G (p.His2523Gln) c.7386T>G (p.His2462Gln) c.79T>G (n.79T>G) c.7107T>G (p.His2369Gln) c.6150T>G (p.His2050Gln) c.6141T>G (p.His2047Gln)
5	g.37060925T=	CA1539583070	NIPBL	c.7767T= (p.His2589=) c.7620T= (p.His2540=) c.263+1760T= (n.263+1760T=) n.1649T= c.1-3653T= (n.1-3653T=) c.7023T= (p.His2341=) c.7569T= (p.His2523=) c.7386T= (p.His2462=) c.79T= (n.79T=) c.7107T= (p.His2369=) c.6150T= (p.His2050=) c.6141T= (p.His2047=)
5	g.37060926C>A	CA359518633	NIPBL	c.7768C>A (p.Pro2590Thr) c.7621C>A (p.Pro2541Thr) c.263+1761C>A (n.263+1761C>A) n.1650C>A c.1-3652C>A (n.1-3652C>A) c.7024C>A (p.Pro2342Thr) c.7570C>A (p.Pro2524Thr) c.7387C>A (p.Pro2463Thr) c.80C>A (n.80C>A) c.7108C>A (p.Pro2370Thr) c.6151C>A (p.Pro2051Thr) c.6142C>A (p.Pro2048Thr)
5	g.37060926C>G	CA359518634	NIPBL	c.7768C>G (p.Pro2590Ala) c.7621C>G (p.Pro2541Ala) c.263+1761C>G (n.263+1761C>G) n.1650C>G c.1-3652C>G (n.1-3652C>G) c.7024C>G (p.Pro2342Ala) c.7570C>G (p.Pro2524Ala) c.7387C>G (p.Pro2463Ala) c.80C>G (n.80C>G) c.7108C>G (p.Pro2370Ala) c.6151C>G (p.Pro2051Ala) c.6142C>G (p.Pro2048Ala)
5	g.37060926C>T	CA359518636	NIPBL	c.7768C>T (p.Pro2590Ser) c.7621C>T (p.Pro2541Ser) c.263+1761C>T (n.263+1761C>T) n.1650C>T c.1-3652C>T (n.1-3652C>T) c.7024C>T (p.Pro2342Ser) c.7570C>T (p.Pro2524Ser) c.7387C>T (p.Pro2463Ser) c.80C>T (n.80C>T) c.7108C>T (p.Pro2370Ser) c.6151C>T (p.Pro2051Ser) c.6142C>T (p.Pro2048Ser)
5	g.37060927C>A	CA359518638	NIPBL	c.7769C>A (p.Pro2590Gln) c.7622C>A (p.Pro2541Gln) c.263+1762C>A (n.263+1762C>A) n.1651C>A c.1-3651C>A (n.1-3651C>A) c.7025C>A (p.Pro2342Gln) c.7571C>A (p.Pro2524Gln) c.7388C>A (p.Pro2463Gln) c.7109C>A (p.Pro2370Gln) c.6152C>A (p.Pro2051Gln) c.6143C>A (p.Pro2048Gln)
5	g.37060927C>G	CA359518640	NIPBL	c.7769C>G (p.Pro2590Arg) c.7622C>G (p.Pro2541Arg) c.263+1762C>G (n.263+1762C>G) n.1651C>G c.1-3651C>G (n.1-3651C>G) c.7025C>G (p.Pro2342Arg) c.7571C>G (p.Pro2524Arg) c.7388C>G (p.Pro2463Arg) c.7109C>G (p.Pro2370Arg) c.6152C>G (p.Pro2051Arg) c.6143C>G (p.Pro2048Arg)
5	g.37060927C>T	CA359518643	NIPBL	c.7769C>T (p.Pro2590Leu) c.7622C>T (p.Pro2541Leu) c.263+1762C>T (n.263+1762C>T) n.1651C>T c.1-3651C>T (n.1-3651C>T) c.7025C>T (p.Pro2342Leu) c.7571C>T (p.Pro2524Leu) c.7388C>T (p.Pro2463Leu) c.7109C>T (p.Pro2370Leu) c.6152C>T (p.Pro2051Leu) c.6143C>T (p.Pro2048Leu)
5	g.37060928A>C	CA443916300	NIPBL	c.7770A>C (p.Pro2590=) c.7623A>C (p.Pro2541=) c.263+1763A>C (n.263+1763A>C) n.1652A>C c.1-3650A>C (n.1-3650A>C) c.7026A>C (p.Pro2342=) c.7572A>C (p.Pro2524=) c.7389A>C (p.Pro2463=) c.7110A>C (p.Pro2370=) c.6153A>C (p.Pro2051=) c.6144A>C (p.Pro2048=)
5	g.37060928A>G	CA443916304	NIPBL	c.7770A>G (p.Pro2590=) c.7623A>G (p.Pro2541=) c.263+1763A>G (n.263+1763A>G) n.1652A>G c.1-3650A>G (n.1-3650A>G) c.7026A>G (p.Pro2342=) c.7572A>G (p.Pro2524=) c.7389A>G (p.Pro2463=) c.7110A>G (p.Pro2370=) c.6153A>G (p.Pro2051=) c.6144A>G (p.Pro2048=)
5	g.37060928A>T	CA443916302	NIPBL	c.7770A>T (p.Pro2590=) c.7623A>T (p.Pro2541=) c.263+1763A>T (n.263+1763A>T) n.1652A>T c.1-3650A>T (n.1-3650A>T) c.7026A>T (p.Pro2342=) c.7572A>T (p.Pro2524=) c.7389A>T (p.Pro2463=) c.7110A>T (p.Pro2370=) c.6153A>T (p.Pro2051=) c.6144A>T (p.Pro2048=)
5	g.37060929A>C	CA359518649	NIPBL	c.7771A>C (p.Lys2591Gln) c.7624A>C (p.Lys2542Gln) c.263+1764A>C (n.263+1764A>C) n.1653A>C c.1-3649A>C (n.1-3649A>C) c.7027A>C (p.Lys2343Gln) c.7573A>C (p.Lys2525Gln) c.7390A>C (p.Lys2464Gln) c.7111A>C (p.Lys2371Gln) c.6154A>C (p.Lys2052Gln) c.6145A>C (p.Lys2049Gln)
5	g.37060929A>G	CA359518655	NIPBL	c.7771A>G (p.Lys2591Glu) c.7624A>G (p.Lys2542Glu) c.263+1764A>G (n.263+1764A>G) n.1653A>G c.1-3649A>G (n.1-3649A>G) c.7027A>G (p.Lys2343Glu) c.7573A>G (p.Lys2525Glu) c.7390A>G (p.Lys2464Glu) c.7111A>G (p.Lys2371Glu) c.6154A>G (p.Lys2052Glu) c.6145A>G (p.Lys2049Glu)	gnomAD v4
5	g.37060929A>T	CA359518646	NIPBL	c.7771A>T (p.Lys2591Ter) c.7624A>T (p.Lys2542Ter) c.263+1764A>T (n.263+1764A>T) n.1653A>T c.1-3649A>T (n.1-3649A>T) c.7027A>T (p.Lys2343Ter) c.7573A>T (p.Lys2525Ter) c.7390A>T (p.Lys2464Ter) c.7111A>T (p.Lys2371Ter) c.6154A>T (p.Lys2052Ter) c.6145A>T (p.Lys2049Ter)
5	g.37060930A>C	CA359518663	NIPBL	c.7772A>C (p.Lys2591Thr) c.7625A>C (p.Lys2542Thr) c.263+1765A>C (n.263+1765A>C) n.1654A>C c.1-3648A>C (n.1-3648A>C) c.7028A>C (p.Lys2343Thr) c.7574A>C (p.Lys2525Thr) c.7391A>C (p.Lys2464Thr) c.7112A>C (p.Lys2371Thr) c.6155A>C (p.Lys2052Thr) c.6146A>C (p.Lys2049Thr)
5	g.37060930A>G	CA359518658	NIPBL	c.7772A>G (p.Lys2591Arg) c.7625A>G (p.Lys2542Arg) c.263+1765A>G (n.263+1765A>G) n.1654A>G c.1-3648A>G (n.1-3648A>G) c.7028A>G (p.Lys2343Arg) c.7574A>G (p.Lys2525Arg) c.7391A>G (p.Lys2464Arg) c.7112A>G (p.Lys2371Arg) c.6155A>G (p.Lys2052Arg) c.6146A>G (p.Lys2049Arg)
5	g.37060930A>T	CA359518665	NIPBL	c.7772A>T (p.Lys2591Ile) c.7625A>T (p.Lys2542Ile) c.263+1765A>T (n.263+1765A>T) n.1654A>T c.1-3648A>T (n.1-3648A>T) c.7028A>T (p.Lys2343Ile) c.7574A>T (p.Lys2525Ile) c.7391A>T (p.Lys2464Ile) c.7112A>T (p.Lys2371Ile) c.6155A>T (p.Lys2052Ile) c.6146A>T (p.Lys2049Ile)
5	g.37060931A=	CA1539583071	NIPBL	c.7773A= (p.Lys2591=) c.7626A= (p.Lys2542=) c.263+1766A= (n.263+1766A=) n.1655A= c.1-3647A= (n.1-3647A=) c.7029A= (p.Lys2343=) c.7575A= (p.Lys2525=) c.7392A= (p.Lys2464=) c.7113A= (p.Lys2371=) c.6156A= (p.Lys2052=) c.6147A= (p.Lys2049=)
5	g.37060931A>C	CA359518667	NIPBL	c.7773A>C (p.Lys2591Asn) c.7626A>C (p.Lys2542Asn) c.263+1766A>C (n.263+1766A>C) n.1655A>C c.1-3647A>C (n.1-3647A>C) c.7029A>C (p.Lys2343Asn) c.7575A>C (p.Lys2525Asn) c.7392A>C (p.Lys2464Asn) c.7113A>C (p.Lys2371Asn) c.6156A>C (p.Lys2052Asn) c.6147A>C (p.Lys2049Asn)
5	g.37060931A>G	CA3237268	NIPBL	c.7773A>G (p.Lys2591=) c.7626A>G (p.Lys2542=) c.263+1766A>G (n.263+1766A>G) n.1655A>G c.1-3647A>G (n.1-3647A>G) c.7029A>G (p.Lys2343=) c.7575A>G (p.Lys2525=) c.7392A>G (p.Lys2464=) c.7113A>G (p.Lys2371=) c.6156A>G (p.Lys2052=) c.6147A>G (p.Lys2049=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5	g.37060931A>T	CA359518672	NIPBL	c.7773A>T (p.Lys2591Asn) c.7626A>T (p.Lys2542Asn) c.263+1766A>T (n.263+1766A>T) n.1655A>T c.1-3647A>T (n.1-3647A>T) c.7029A>T (p.Lys2343Asn) c.7575A>T (p.Lys2525Asn) c.7392A>T (p.Lys2464Asn) c.7113A>T (p.Lys2371Asn) c.6156A>T (p.Lys2052Asn) c.6147A>T (p.Lys2049Asn)
5	g.37060932C>A	CA359518686	NIPBL	c.7774C>A (p.Gln2592Lys) c.7627C>A (p.Gln2543Lys) c.263+1767C>A (n.263+1767C>A) n.1656C>A c.1-3646C>A (n.1-3646C>A) c.7030C>A (p.Gln2344Lys) c.7576C>A (p.Gln2526Lys) c.7393C>A (p.Gln2465Lys) c.7114C>A (p.Gln2372Lys) c.6157C>A (p.Gln2053Lys) c.6148C>A (p.Gln2050Lys)
5	g.37060932C>G	CA359518689	NIPBL	c.7774C>G (p.Gln2592Glu) c.7627C>G (p.Gln2543Glu) c.263+1767C>G (n.263+1767C>G) n.1656C>G c.1-3646C>G (n.1-3646C>G) c.7030C>G (p.Gln2344Glu) c.7576C>G (p.Gln2526Glu) c.7393C>G (p.Gln2465Glu) c.7114C>G (p.Gln2372Glu) c.6157C>G (p.Gln2053Glu) c.6148C>G (p.Gln2050Glu)
5	g.37060932C>T	CA359518690	NIPBL	c.7774C>T (p.Gln2592Ter) c.7627C>T (p.Gln2543Ter) c.263+1767C>T (n.263+1767C>T) n.1656C>T c.1-3646C>T (n.1-3646C>T) c.7030C>T (p.Gln2344Ter) c.7576C>T (p.Gln2526Ter) c.7393C>T (p.Gln2465Ter) c.7114C>T (p.Gln2372Ter) c.6157C>T (p.Gln2053Ter) c.6148C>T (p.Gln2050Ter)
5	g.37060933A=	CA1539583072	NIPBL	c.7775A= (p.Gln2592=) c.7628A= (p.Gln2543=) c.263+1768A= (n.263+1768A=) n.1657A= c.1-3645A= (n.1-3645A=) c.7031A= (p.Gln2344=) c.7577A= (p.Gln2526=) c.7394A= (p.Gln2465=) c.7115A= (p.Gln2372=) c.6158A= (p.Gln2053=) c.6149A= (p.Gln2050=)
5	g.37060933A>C	CA359518693	NIPBL	c.7775A>C (p.Gln2592Pro) c.7628A>C (p.Gln2543Pro) c.263+1768A>C (n.263+1768A>C) n.1657A>C c.1-3645A>C (n.1-3645A>C) c.7031A>C (p.Gln2344Pro) c.7577A>C (p.Gln2526Pro) c.7394A>C (p.Gln2465Pro) c.7115A>C (p.Gln2372Pro) c.6158A>C (p.Gln2053Pro) c.6149A>C (p.Gln2050Pro)
5	g.37060933A>G	CA359518694	NIPBL	c.7775A>G (p.Gln2592Arg) c.7628A>G (p.Gln2543Arg) c.263+1768A>G (n.263+1768A>G) n.1657A>G c.1-3645A>G (n.1-3645A>G) c.7031A>G (p.Gln2344Arg) c.7577A>G (p.Gln2526Arg) c.7394A>G (p.Gln2465Arg) c.7115A>G (p.Gln2372Arg) c.6158A>G (p.Gln2053Arg) c.6149A>G (p.Gln2050Arg)
5	g.37060933A>T	CA359518697	NIPBL	c.7775A>T (p.Gln2592Leu) c.7628A>T (p.Gln2543Leu) c.263+1768A>T (n.263+1768A>T) n.1657A>T c.1-3645A>T (n.1-3645A>T) c.7031A>T (p.Gln2344Leu) c.7577A>T (p.Gln2526Leu) c.7394A>T (p.Gln2465Leu) c.7115A>T (p.Gln2372Leu) c.6158A>T (p.Gln2053Leu) c.6149A>T (p.Gln2050Leu)	dbSNP
5	g.37060934A=	CA1539583075	NIPBL	c.7776A= (p.Gln2592=) c.7629A= (p.Gln2543=) c.263+1769A= (n.263+1769A=) n.1658A= c.1-3644A= (n.1-3644A=) c.7032A= (p.Gln2344=) c.7578A= (p.Gln2526=) c.7395A= (p.Gln2465=) c.7116A= (p.Gln2372=) c.6159A= (p.Gln2053=) c.6150A= (p.Gln2050=)
5	g.37060934A>C	CA359518700	NIPBL	c.7776A>C (p.Gln2592His) c.7629A>C (p.Gln2543His) c.263+1769A>C (n.263+1769A>C) n.1658A>C c.1-3644A>C (n.1-3644A>C) c.7032A>C (p.Gln2344His) c.7578A>C (p.Gln2526His) c.7395A>C (p.Gln2465His) c.7116A>C (p.Gln2372His) c.6159A>C (p.Gln2053His) c.6150A>C (p.Gln2050His)
5	g.37060934A>G	CA3237269	NIPBL	c.7776A>G (p.Gln2592=) c.7629A>G (p.Gln2543=) c.263+1769A>G (n.263+1769A>G) n.1658A>G c.1-3644A>G (n.1-3644A>G) c.7032A>G (p.Gln2344=) c.7578A>G (p.Gln2526=) c.7395A>G (p.Gln2465=) c.7116A>G (p.Gln2372=) c.6159A>G (p.Gln2053=) c.6150A>G (p.Gln2050=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5	g.37060934A>T	CA359518705	NIPBL	c.7776A>T (p.Gln2592His) c.7629A>T (p.Gln2543His) c.263+1769A>T (n.263+1769A>T) n.1658A>T c.1-3644A>T (n.1-3644A>T) c.7032A>T (p.Gln2344His) c.7578A>T (p.Gln2526His) c.7395A>T (p.Gln2465His) c.7116A>T (p.Gln2372His) c.6159A>T (p.Gln2053His) c.6150A>T (p.Gln2050His)
5	g.37060935A>C	CA359518709	NIPBL	c.7777A>C (p.Thr2593Pro) c.7630A>C (p.Thr2544Pro) c.263+1770A>C (n.263+1770A>C) n.1659A>C c.1-3643A>C (n.1-3643A>C) c.7033A>C (p.Thr2345Pro) c.7579A>C (p.Thr2527Pro) c.7396A>C (p.Thr2466Pro) c.7117A>C (p.Thr2373Pro) c.6160A>C (p.Thr2054Pro) c.6151A>C (p.Thr2051Pro)
5	g.37060935A>G	CA359518711	NIPBL	c.7777A>G (p.Thr2593Ala) c.7630A>G (p.Thr2544Ala) c.263+1770A>G (n.263+1770A>G) n.1659A>G c.1-3643A>G (n.1-3643A>G) c.7033A>G (p.Thr2345Ala) c.7579A>G (p.Thr2527Ala) c.7396A>G (p.Thr2466Ala) c.7117A>G (p.Thr2373Ala) c.6160A>G (p.Thr2054Ala) c.6151A>G (p.Thr2051Ala)
5	g.37060935A>T	CA359518716	NIPBL	c.7777A>T (p.Thr2593Ser) c.7630A>T (p.Thr2544Ser) c.263+1770A>T (n.263+1770A>T) n.1659A>T c.1-3643A>T (n.1-3643A>T) c.7033A>T (p.Thr2345Ser) c.7579A>T (p.Thr2527Ser) c.7396A>T (p.Thr2466Ser) c.7117A>T (p.Thr2373Ser) c.6160A>T (p.Thr2054Ser) c.6151A>T (p.Thr2051Ser)
5	g.37060936C>A	CA359518721	NIPBL	c.7778C>A (p.Thr2593Lys) c.7631C>A (p.Thr2544Lys) c.263+1771C>A (n.263+1771C>A) n.1660C>A c.1-3642C>A (n.1-3642C>A) c.7034C>A (p.Thr2345Lys) c.7580C>A (p.Thr2527Lys) c.7397C>A (p.Thr2466Lys) c.7118C>A (p.Thr2373Lys) c.6161C>A (p.Thr2054Lys) c.6152C>A (p.Thr2051Lys)
5	g.37060936C>G	CA359518717	NIPBL	c.7778C>G (p.Thr2593Arg) c.7631C>G (p.Thr2544Arg) c.263+1771C>G (n.263+1771C>G) n.1660C>G c.1-3642C>G (n.1-3642C>G) c.7034C>G (p.Thr2345Arg) c.7580C>G (p.Thr2527Arg) c.7397C>G (p.Thr2466Arg) c.7118C>G (p.Thr2373Arg) c.6161C>G (p.Thr2054Arg) c.6152C>G (p.Thr2051Arg)
5	g.37060936C>T	CA359518719	NIPBL	c.7778C>T (p.Thr2593Ile) c.7631C>T (p.Thr2544Ile) c.263+1771C>T (n.263+1771C>T) n.1660C>T c.1-3642C>T (n.1-3642C>T) c.7034C>T (p.Thr2345Ile) c.7580C>T (p.Thr2527Ile) c.7397C>T (p.Thr2466Ile) c.7118C>T (p.Thr2373Ile) c.6161C>T (p.Thr2054Ile) c.6152C>T (p.Thr2051Ile)
5	g.37060937A=	CA1539583077	NIPBL	c.7779A= (p.Thr2593=) c.7632A= (p.Thr2544=) c.263+1772A= (n.263+1772A=) n.1661A= c.1-3641A= (n.1-3641A=) c.7035A= (p.Thr2345=) c.7581A= (p.Thr2527=) c.7398A= (p.Thr2466=) c.7119A= (p.Thr2373=) c.6162A= (p.Thr2054=) c.6153A= (p.Thr2051=)
5	g.37060937A>C	CA443916315	NIPBL	c.7779A>C (p.Thr2593=) c.7632A>C (p.Thr2544=) c.263+1772A>C (n.263+1772A>C) n.1661A>C c.1-3641A>C (n.1-3641A>C) c.7035A>C (p.Thr2345=) c.7581A>C (p.Thr2527=) c.7398A>C (p.Thr2466=) c.7119A>C (p.Thr2373=) c.6162A>C (p.Thr2054=) c.6153A>C (p.Thr2051=)
5	g.37060937A>G	CA443916316	NIPBL	c.7779A>G (p.Thr2593=) c.7632A>G (p.Thr2544=) c.263+1772A>G (n.263+1772A>G) n.1661A>G c.1-3641A>G (n.1-3641A>G) c.7035A>G (p.Thr2345=) c.7581A>G (p.Thr2527=) c.7398A>G (p.Thr2466=) c.7119A>G (p.Thr2373=) c.6162A>G (p.Thr2054=) c.6153A>G (p.Thr2051=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5	g.37060937A>T	CA443916317	NIPBL	c.7779A>T (p.Thr2593=) c.7632A>T (p.Thr2544=) c.263+1772A>T (n.263+1772A>T) n.1661A>T c.1-3641A>T (n.1-3641A>T) c.7035A>T (p.Thr2345=) c.7581A>T (p.Thr2527=) c.7398A>T (p.Thr2466=) c.7119A>T (p.Thr2373=) c.6162A>T (p.Thr2054=) c.6153A>T (p.Thr2051=)
5	g.37060938del	CA2695204360	NIPBL	c.7780del (p.Leu2594TrpfsTer17) c.7633del (p.Leu2545TrpfsTer17) c.263+1773del (n.263+1773del) n.1662del c.1-3640del (n.1-3640del) c.7036del (p.Leu2346TrpfsTer17) c.7582del (p.Leu2528TrpfsTer17) c.7399del (p.Leu2467TrpfsTer17) c.7120del (p.Leu2374TrpfsTer17) c.6163del (p.Leu2055TrpfsTer17) c.6154del (p.Leu2052TrpfsTer17)
5	g.37060938C>A	CA359518724	NIPBL	c.7780C>A (p.Leu2594Met) c.7633C>A (p.Leu2545Met) c.263+1773C>A (n.263+1773C>A) n.1662C>A c.1-3640C>A (n.1-3640C>A) c.7036C>A (p.Leu2346Met) c.7582C>A (p.Leu2528Met) c.7399C>A (p.Leu2467Met) c.7120C>A (p.Leu2374Met) c.6163C>A (p.Leu2055Met) c.6154C>A (p.Leu2052Met)
5	g.37060938C=	CA1539583081	NIPBL	c.7780C= (p.Leu2594=) c.7633C= (p.Leu2545=) c.263+1773C= (n.263+1773C=) n.1662C= c.1-3640C= (n.1-3640C=) c.7036C= (p.Leu2346=) c.7582C= (p.Leu2528=) c.7399C= (p.Leu2467=) c.7120C= (p.Leu2374=) c.6163C= (p.Leu2055=) c.6154C= (p.Leu2052=)
5	g.37060938C>G	CA3237270	NIPBL	c.7780C>G (p.Leu2594Val) c.7633C>G (p.Leu2545Val) c.263+1773C>G (n.263+1773C>G) n.1662C>G c.1-3640C>G (n.1-3640C>G) c.7036C>G (p.Leu2346Val) c.7582C>G (p.Leu2528Val) c.7399C>G (p.Leu2467Val) c.7120C>G (p.Leu2374Val) c.6163C>G (p.Leu2055Val) c.6154C>G (p.Leu2052Val)	dbSNP ExAC gnomAD v2 gnomAD v4
5	g.37060938C>T	CA443916318	NIPBL	c.7780C>T (p.Leu2594=) c.7633C>T (p.Leu2545=) c.263+1773C>T (n.263+1773C>T) n.1662C>T c.1-3640C>T (n.1-3640C>T) c.7036C>T (p.Leu2346=) c.7582C>T (p.Leu2528=) c.7399C>T (p.Leu2467=) c.7120C>T (p.Leu2374=) c.6163C>T (p.Leu2055=) c.6154C>T (p.Leu2052=)	gnomAD v4
5	g.37060939T>A	CA359518730	NIPBL	c.7781T>A (p.Leu2594Gln) c.7634T>A (p.Leu2545Gln) c.263+1774T>A (n.263+1774T>A) n.1663T>A c.1-3639T>A (n.1-3639T>A) c.7037T>A (p.Leu2346Gln) c.7583T>A (p.Leu2528Gln) c.7400T>A (p.Leu2467Gln) c.7121T>A (p.Leu2374Gln) c.6164T>A (p.Leu2055Gln) c.6155T>A (p.Leu2052Gln)
5	g.37060939T>C	CA359518733	NIPBL	c.7781T>C (p.Leu2594Pro) c.7634T>C (p.Leu2545Pro) c.263+1774T>C (n.263+1774T>C) n.1663T>C c.1-3639T>C (n.1-3639T>C) c.7037T>C (p.Leu2346Pro) c.7583T>C (p.Leu2528Pro) c.7400T>C (p.Leu2467Pro) c.7121T>C (p.Leu2374Pro) c.6164T>C (p.Leu2055Pro) c.6155T>C (p.Leu2052Pro)
5	g.37060939T>G	CA359518735	NIPBL	c.7781T>G (p.Leu2594Arg) c.7634T>G (p.Leu2545Arg) c.263+1774T>G (n.263+1774T>G) n.1663T>G c.1-3639T>G (n.1-3639T>G) c.7037T>G (p.Leu2346Arg) c.7583T>G (p.Leu2528Arg) c.7400T>G (p.Leu2467Arg) c.7121T>G (p.Leu2374Arg) c.6164T>G (p.Leu2055Arg) c.6155T>G (p.Leu2052Arg)
5	g.37060940G>A	CA443916319	NIPBL	c.7782G>A (p.Leu2594=) c.7635G>A (p.Leu2545=) c.263+1775G>A (n.263+1775G>A) n.1664G>A c.1-3638G>A (n.1-3638G>A) c.7038G>A (p.Leu2346=) c.7584G>A (p.Leu2528=) c.7401G>A (p.Leu2467=) c.7122G>A (p.Leu2374=) c.6165G>A (p.Leu2055=) c.6156G>A (p.Leu2052=)
5	g.37060940G>C	CA443916320	NIPBL	c.7782G>C (p.Leu2594=) c.7635G>C (p.Leu2545=) c.263+1775G>C (n.263+1775G>C) n.1664G>C c.1-3638G>C (n.1-3638G>C) c.7038G>C (p.Leu2346=) c.7584G>C (p.Leu2528=) c.7401G>C (p.Leu2467=) c.7122G>C (p.Leu2374=) c.6165G>C (p.Leu2055=) c.6156G>C (p.Leu2052=)
5	g.37060940G>T	CA443916321	NIPBL	c.7782G>T (p.Leu2594=) c.7635G>T (p.Leu2545=) c.263+1775G>T (n.263+1775G>T) n.1664G>T c.1-3638G>T (n.1-3638G>T) c.7038G>T (p.Leu2346=) c.7584G>T (p.Leu2528=) c.7401G>T (p.Leu2467=) c.7122G>T (p.Leu2374=) c.6165G>T (p.Leu2055=) c.6156G>T (p.Leu2052=)
5	g.37060941G>A	CA359518741	NIPBL	c.7783G>A (p.Asp2595Asn) c.7636G>A (p.Asp2546Asn) c.263+1776G>A (n.263+1776G>A) n.1665G>A c.1-3637G>A (n.1-3637G>A) c.7039G>A (p.Asp2347Asn) c.7585G>A (p.Asp2529Asn) c.7402G>A (p.Asp2468Asn) c.7123G>A (p.Asp2375Asn) c.6166G>A (p.Asp2056Asn) c.6157G>A (p.Asp2053Asn)
5	g.37060941G>C	CA359518743	NIPBL	c.7783G>C (p.Asp2595His) c.7636G>C (p.Asp2546His) c.263+1776G>C (n.263+1776G>C) n.1665G>C c.1-3637G>C (n.1-3637G>C) c.7039G>C (p.Asp2347His) c.7585G>C (p.Asp2529His) c.7402G>C (p.Asp2468His) c.7123G>C (p.Asp2375His) c.6166G>C (p.Asp2056His) c.6157G>C (p.Asp2053His)
5	g.37060941G>T	CA359518745	NIPBL	c.7783G>T (p.Asp2595Tyr) c.7636G>T (p.Asp2546Tyr) c.263+1776G>T (n.263+1776G>T) n.1665G>T c.1-3637G>T (n.1-3637G>T) c.7039G>T (p.Asp2347Tyr) c.7585G>T (p.Asp2529Tyr) c.7402G>T (p.Asp2468Tyr) c.7123G>T (p.Asp2375Tyr) c.6166G>T (p.Asp2056Tyr) c.6157G>T (p.Asp2053Tyr)
5	g.37060942A>C	CA359518747	NIPBL	c.7784A>C (p.Asp2595Ala) c.7637A>C (p.Asp2546Ala) c.263+1777A>C (n.263+1777A>C) n.1666A>C c.1-3636A>C (n.1-3636A>C) c.7040A>C (p.Asp2347Ala) c.7586A>C (p.Asp2529Ala) c.7403A>C (p.Asp2468Ala) c.7124A>C (p.Asp2375Ala) c.6167A>C (p.Asp2056Ala) c.6158A>C (p.Asp2053Ala)
5	g.37060942A>G	CA359518762	NIPBL	c.7784A>G (p.Asp2595Gly) c.7637A>G (p.Asp2546Gly) c.263+1777A>G (n.263+1777A>G) n.1666A>G c.1-3636A>G (n.1-3636A>G) c.7040A>G (p.Asp2347Gly) c.7586A>G (p.Asp2529Gly) c.7403A>G (p.Asp2468Gly) c.7124A>G (p.Asp2375Gly) c.6167A>G (p.Asp2056Gly) c.6158A>G (p.Asp2053Gly)
5	g.37060942A>T	CA359518767	NIPBL	c.7784A>T (p.Asp2595Val) c.7637A>T (p.Asp2546Val) c.263+1777A>T (n.263+1777A>T) n.1666A>T c.1-3636A>T (n.1-3636A>T) c.7040A>T (p.Asp2347Val) c.7586A>T (p.Asp2529Val) c.7403A>T (p.Asp2468Val) c.7124A>T (p.Asp2375Val) c.6167A>T (p.Asp2056Val) c.6158A>T (p.Asp2053Val)
5	g.37060943C>A	CA359518772	NIPBL	c.7785C>A (p.Asp2595Glu) c.7638C>A (p.Asp2546Glu) c.263+1778C>A (n.263+1778C>A) n.1667C>A c.1-3635C>A (n.1-3635C>A) c.7041C>A (p.Asp2347Glu) c.7587C>A (p.Asp2529Glu) c.7404C>A (p.Asp2468Glu) c.7125C>A (p.Asp2375Glu) c.6168C>A (p.Asp2056Glu) c.6159C>A (p.Asp2053Glu)
5	g.37060943C>G	CA359518775	NIPBL	c.7785C>G (p.Asp2595Glu) c.7638C>G (p.Asp2546Glu) c.263+1778C>G (n.263+1778C>G) n.1667C>G c.1-3635C>G (n.1-3635C>G) c.7041C>G (p.Asp2347Glu) c.7587C>G (p.Asp2529Glu) c.7404C>G (p.Asp2468Glu) c.7125C>G (p.Asp2375Glu) c.6168C>G (p.Asp2056Glu) c.6159C>G (p.Asp2053Glu)
5	g.37060943C>T	CA443916322	NIPBL	c.7785C>T (p.Asp2595=) c.7638C>T (p.Asp2546=) c.263+1778C>T (n.263+1778C>T) n.1667C>T c.1-3635C>T (n.1-3635C>T) c.7041C>T (p.Asp2347=) c.7587C>T (p.Asp2529=) c.7404C>T (p.Asp2468=) c.7125C>T (p.Asp2375=) c.6168C>T (p.Asp2056=) c.6159C>T (p.Asp2053=)
5	g.37060944T>A	CA359518777	NIPBL	c.7786T>A (p.Phe2596Ile) c.7639T>A (p.Phe2547Ile) c.263+1779T>A (n.263+1779T>A) n.1668T>A c.1-3634T>A (n.1-3634T>A) c.7042T>A (p.Phe2348Ile) c.7588T>A (p.Phe2530Ile) c.7405T>A (p.Phe2469Ile) c.7126T>A (p.Phe2376Ile) c.6169T>A (p.Phe2057Ile) c.6160T>A (p.Phe2054Ile)
5	g.37060944T>C	CA359518782	NIPBL	c.7786T>C (p.Phe2596Leu) c.7639T>C (p.Phe2547Leu) c.263+1779T>C (n.263+1779T>C) n.1668T>C c.1-3634T>C (n.1-3634T>C) c.7042T>C (p.Phe2348Leu) c.7588T>C (p.Phe2530Leu) c.7405T>C (p.Phe2469Leu) c.7126T>C (p.Phe2376Leu) c.6169T>C (p.Phe2057Leu) c.6160T>C (p.Phe2054Leu)
5	g.37060944T>G	CA359518783	NIPBL	c.7786T>G (p.Phe2596Val) c.7639T>G (p.Phe2547Val) c.263+1779T>G (n.263+1779T>G) n.1668T>G c.1-3634T>G (n.1-3634T>G) c.7042T>G (p.Phe2348Val) c.7588T>G (p.Phe2530Val) c.7405T>G (p.Phe2469Val) c.7126T>G (p.Phe2376Val) c.6169T>G (p.Phe2057Val) c.6160T>G (p.Phe2054Val)
5	g.37060945T>A	CA359518788	NIPBL	c.7787T>A (p.Phe2596Tyr) c.7640T>A (p.Phe2547Tyr) c.263+1780T>A (n.263+1780T>A) n.1669T>A c.1-3633T>A (n.1-3633T>A) c.7043T>A (p.Phe2348Tyr) c.7589T>A (p.Phe2530Tyr) c.7406T>A (p.Phe2469Tyr) c.7127T>A (p.Phe2376Tyr) c.6170T>A (p.Phe2057Tyr) c.6161T>A (p.Phe2054Tyr)
5	g.37060945T>C	CA359518790	NIPBL	c.7787T>C (p.Phe2596Ser) c.7640T>C (p.Phe2547Ser) c.263+1780T>C (n.263+1780T>C) n.1669T>C c.1-3633T>C (n.1-3633T>C) c.7043T>C (p.Phe2348Ser) c.7589T>C (p.Phe2530Ser) c.7406T>C (p.Phe2469Ser) c.7127T>C (p.Phe2376Ser) c.6170T>C (p.Phe2057Ser) c.6161T>C (p.Phe2054Ser)
5	g.37060945T>G	CA359518791	NIPBL	c.7787T>G (p.Phe2596Cys) c.7640T>G (p.Phe2547Cys) c.263+1780T>G (n.263+1780T>G) n.1669T>G c.1-3633T>G (n.1-3633T>G) c.7043T>G (p.Phe2348Cys) c.7589T>G (p.Phe2530Cys) c.7406T>G (p.Phe2469Cys) c.7127T>G (p.Phe2376Cys) c.6170T>G (p.Phe2057Cys) c.6161T>G (p.Phe2054Cys)
5	g.37060945_37060946delinsTC	CA1539583085	NIPBL	c.7787_7788delinsTC (p.Phe2596=) c.7640_7641delinsTC (p.Phe2547=) c.263+1780_263+1781delinsTC (n.263+1780_263+1781delinsTC) n.1669_1670delinsTC c.1-3633_1-3632delinsTC (n.1-3633_1-3632delinsTC) c.7043_7044delinsTC (p.Phe2348=) c.7589_7590delinsTC (p.Phe2530=) c.7406_7407delinsTC (p.Phe2469=) c.7127_7128delinsTC (p.Phe2376=) c.6170_6171delinsTC (p.Phe2057=) c.6161_6162delinsTC (p.Phe2054=)
5	g.37060946C>A	CA359518792	NIPBL	c.7788C>A (p.Phe2596Leu) c.7641C>A (p.Phe2547Leu) c.263+1781C>A (n.263+1781C>A) n.1670C>A c.1-3632C>A (n.1-3632C>A) c.7044C>A (p.Phe2348Leu) c.7590C>A (p.Phe2530Leu) c.7407C>A (p.Phe2469Leu) c.7128C>A (p.Phe2376Leu) c.6171C>A (p.Phe2057Leu) c.6162C>A (p.Phe2054Leu)
5	g.37060946C=	CA1539583093	NIPBL	c.7788C= (p.Phe2596=) c.7641C= (p.Phe2547=) c.263+1781C= (n.263+1781C=) n.1670C= c.1-3632C= (n.1-3632C=) c.7044C= (p.Phe2348=) c.7590C= (p.Phe2530=) c.7407C= (p.Phe2469=) c.7128C= (p.Phe2376=) c.6171C= (p.Phe2057=) c.6162C= (p.Phe2054=)
5	g.37060946C>G	CA359518793	NIPBL	c.7788C>G (p.Phe2596Leu) c.7641C>G (p.Phe2547Leu) c.263+1781C>G (n.263+1781C>G) n.1670C>G c.1-3632C>G (n.1-3632C>G) c.7044C>G (p.Phe2348Leu) c.7590C>G (p.Phe2530Leu) c.7407C>G (p.Phe2469Leu) c.7128C>G (p.Phe2376Leu) c.6171C>G (p.Phe2057Leu) c.6162C>G (p.Phe2054Leu)
5	g.37060946C>T	CA443916323	NIPBL	c.7788C>T (p.Phe2596=) c.7641C>T (p.Phe2547=) c.263+1781C>T (n.263+1781C>T) n.1670C>T c.1-3632C>T (n.1-3632C>T) c.7044C>T (p.Phe2348=) c.7590C>T (p.Phe2530=) c.7407C>T (p.Phe2469=) c.7128C>T (p.Phe2376=) c.6171C>T (p.Phe2057=) c.6162C>T (p.Phe2054=)	ClinVar dbSNP gnomAD v2 gnomAD v4
5	g.37060947del	CA267566	NIPBL	c.7789del (p.Leu2597CysfsTer14) c.7642del (p.Leu2548CysfsTer14) c.263+1782del (n.263+1782del) n.1671del c.1-3631del (n.1-3631del) c.7045del (p.Leu2349CysfsTer14) c.7591del (p.Leu2531CysfsTer14) c.7408del (p.Leu2470CysfsTer14) c.7129del (p.Leu2377CysfsTer14) c.6172del (p.Leu2058CysfsTer14) c.6163del (p.Leu2055CysfsTer14)	ClinVar dbSNP
5	g.37060946_37060950del	CA2695204361	NIPBL	c.7788_7792del (p.Phe2596LeufsTer3) c.7641_7645del (p.Phe2547LeufsTer3) c.263+1781_263+1785del (n.263+1781_263+1785del) n.1670_1674del c.1-3632_1-3628del (n.1-3632_1-3628del) c.7044_7048del (p.Phe2348LeufsTer3) c.7590_7594del (p.Phe2530LeufsTer3) c.7407_7411del (p.Phe2469LeufsTer3) c.7128_7132del (p.Phe2376LeufsTer3) c.6171_6175del (p.Phe2057LeufsTer3) c.6162_6166del (p.Phe2054LeufsTer3)
5	g.37060947C>A	CA359518796	NIPBL	c.7789C>A (p.Leu2597Met) c.7642C>A (p.Leu2548Met) c.263+1782C>A (n.263+1782C>A) n.1671C>A c.1-3631C>A (n.1-3631C>A) c.7045C>A (p.Leu2349Met) c.7591C>A (p.Leu2531Met) c.7408C>A (p.Leu2470Met) c.7129C>A (p.Leu2377Met) c.6172C>A (p.Leu2058Met) c.6163C>A (p.Leu2055Met)
5	g.37060947C>G	CA359518799	NIPBL	c.7789C>G (p.Leu2597Val) c.7642C>G (p.Leu2548Val) c.263+1782C>G (n.263+1782C>G) n.1671C>G c.1-3631C>G (n.1-3631C>G) c.7045C>G (p.Leu2349Val) c.7591C>G (p.Leu2531Val) c.7408C>G (p.Leu2470Val) c.7129C>G (p.Leu2377Val) c.6172C>G (p.Leu2058Val) c.6163C>G (p.Leu2055Val)
5	g.37060947C>T	CA443916325	NIPBL	c.7789C>T (p.Leu2597=) c.7642C>T (p.Leu2548=) c.263+1782C>T (n.263+1782C>T) n.1671C>T c.1-3631C>T (n.1-3631C>T) c.7045C>T (p.Leu2349=) c.7591C>T (p.Leu2531=) c.7408C>T (p.Leu2470=) c.7129C>T (p.Leu2377=) c.6172C>T (p.Leu2058=) c.6163C>T (p.Leu2055=)
5	g.37060947_37060952del	CA2695204362	NIPBL	c.7789_7794del (p.Leu2597_Arg2598del) c.7642_7647del (p.Leu2548_Arg2549del) c.263+1782_263+1787del (n.263+1782_263+1787del) n.1671_1676del c.1-3631_1-3626del (n.1-3631_1-3626del) c.7045_7050del (p.Leu2349_Arg2350del) c.7591_7596del (p.Leu2531_Arg2532del) c.7408_7413del (p.Leu2470_Arg2471del) c.7129_7134del (p.Leu2377_Arg2378del) c.6172_6177del (p.Leu2058_Arg2059del) c.6163_6168del (p.Leu2055_Arg2056del)
5	g.37060948T>A	CA359518812	NIPBL	c.7790T>A (p.Leu2597Gln) c.7643T>A (p.Leu2548Gln) c.263+1783T>A (n.263+1783T>A) n.1672T>A c.1-3630T>A (n.1-3630T>A) c.7046T>A (p.Leu2349Gln) c.7592T>A (p.Leu2531Gln) c.7409T>A (p.Leu2470Gln) c.7130T>A (p.Leu2377Gln) c.6173T>A (p.Leu2058Gln) c.6164T>A (p.Leu2055Gln)
5	g.37060948T>C	CA359518808	NIPBL	c.7790T>C (p.Leu2597Pro) c.7643T>C (p.Leu2548Pro) c.263+1783T>C (n.263+1783T>C) n.1672T>C c.1-3630T>C (n.1-3630T>C) c.7046T>C (p.Leu2349Pro) c.7592T>C (p.Leu2531Pro) c.7409T>C (p.Leu2470Pro) c.7130T>C (p.Leu2377Pro) c.6173T>C (p.Leu2058Pro) c.6164T>C (p.Leu2055Pro)
5	g.37060948T>G	CA359518806	NIPBL	c.7790T>G (p.Leu2597Arg) c.7643T>G (p.Leu2548Arg) c.263+1783T>G (n.263+1783T>G) n.1672T>G c.1-3630T>G (n.1-3630T>G) c.7046T>G (p.Leu2349Arg) c.7592T>G (p.Leu2531Arg) c.7409T>G (p.Leu2470Arg) c.7130T>G (p.Leu2377Arg) c.6173T>G (p.Leu2058Arg) c.6164T>G (p.Leu2055Arg)
5	g.37060948_37060949insCTATATAGTG	CA2546922882	NIPBL	c.7790_7791insCTATATAGTG (p.Arg2598TyrfsTer6) c.7643_7644insCTATATAGTG (p.Arg2549TyrfsTer6) c.263+1783_263+1784insCTATATAGTG (n.263+1783_263+1784insCTATATAGTG) n.1672_1673insCTATATAGTG c.1-3630_1-3629insCTATATAGTG (n.1-3630_1-3629insCTATATAGTG) c.7046_7047insCTATATAGTG (p.Arg2350TyrfsTer6) c.7592_7593insCTATATAGTG (p.Arg2532TyrfsTer6) c.7409_7410insCTATATAGTG (p.Arg2471TyrfsTer6) c.7130_7131insCTATATAGTG (p.Arg2378TyrfsTer6) c.6173_6174insCTATATAGTG (p.Arg2059TyrfsTer6) c.6164_6165insCTATATAGTG (p.Arg2056TyrfsTer6)
5	g.37060949G>A	CA443916326	NIPBL	c.7791G>A (p.Leu2597=) c.7644G>A (p.Leu2548=) c.263+1784G>A (n.263+1784G>A) n.1673G>A c.1-3629G>A (n.1-3629G>A) c.7047G>A (p.Leu2349=) c.7593G>A (p.Leu2531=) c.7410G>A (p.Leu2470=) c.7131G>A (p.Leu2377=) c.6174G>A (p.Leu2058=) c.6165G>A (p.Leu2055=)
5	g.37060949G>C	CA443916328	NIPBL	c.7791G>C (p.Leu2597=) c.7644G>C (p.Leu2548=) c.263+1784G>C (n.263+1784G>C) n.1673G>C c.1-3629G>C (n.1-3629G>C) c.7047G>C (p.Leu2349=) c.7593G>C (p.Leu2531=) c.7410G>C (p.Leu2470=) c.7131G>C (p.Leu2377=) c.6174G>C (p.Leu2058=) c.6165G>C (p.Leu2055=)
5	g.37060949G>T	CA443916327	NIPBL	c.7791G>T (p.Leu2597=) c.7644G>T (p.Leu2548=) c.263+1784G>T (n.263+1784G>T) n.1673G>T c.1-3629G>T (n.1-3629G>T) c.7047G>T (p.Leu2349=) c.7593G>T (p.Leu2531=) c.7410G>T (p.Leu2470=) c.7131G>T (p.Leu2377=) c.6174G>T (p.Leu2058=) c.6165G>T (p.Leu2055=)
5	g.37060950C>A	CA443916329	NIPBL	c.7792C>A (p.Arg2598=) c.7645C>A (p.Arg2549=) c.263+1785C>A (n.263+1785C>A) n.1674C>A c.1-3628C>A (n.1-3628C>A) c.7048C>A (p.Arg2350=) c.7594C>A (p.Arg2532=) c.7411C>A (p.Arg2471=) c.7132C>A (p.Arg2378=) c.6175C>A (p.Arg2059=) c.6166C>A (p.Arg2056=)
5	g.37060950C=	CA1539583097	NIPBL	c.7792C= (p.Arg2598=) c.7645C= (p.Arg2549=) c.263+1785C= (n.263+1785C=) n.1674C= c.1-3628C= (n.1-3628C=) c.7048C= (p.Arg2350=) c.7594C= (p.Arg2532=) c.7411C= (p.Arg2471=) c.7132C= (p.Arg2378=) c.6175C= (p.Arg2059=) c.6166C= (p.Arg2056=)
5	g.37060950C>G	CA359518815	NIPBL	c.7792C>G (p.Arg2598Gly) c.7645C>G (p.Arg2549Gly) c.263+1785C>G (n.263+1785C>G) n.1674C>G c.1-3628C>G (n.1-3628C>G) c.7048C>G (p.Arg2350Gly) c.7594C>G (p.Arg2532Gly) c.7411C>G (p.Arg2471Gly) c.7132C>G (p.Arg2378Gly) c.6175C>G (p.Arg2059Gly) c.6166C>G (p.Arg2056Gly)
5	g.37060950C>T	CA359518817	NIPBL	c.7792C>T (p.Arg2598Trp) c.7645C>T (p.Arg2549Trp) c.263+1785C>T (n.263+1785C>T) n.1674C>T c.1-3628C>T (n.1-3628C>T) c.7048C>T (p.Arg2350Trp) c.7594C>T (p.Arg2532Trp) c.7411C>T (p.Arg2471Trp) c.7132C>T (p.Arg2378Trp) c.6175C>T (p.Arg2059Trp) c.6166C>T (p.Arg2056Trp)	ClinVar dbSNP gnomAD v4
5	g.37060951G>A	CA3237271	NIPBL	c.7793G>A (p.Arg2598Gln) c.7646G>A (p.Arg2549Gln) c.263+1786G>A (n.263+1786G>A) n.1675G>A c.1-3627G>A (n.1-3627G>A) c.7049G>A (p.Arg2350Gln) c.7595G>A (p.Arg2532Gln) c.7412G>A (p.Arg2471Gln) c.7133G>A (p.Arg2378Gln) c.6176G>A (p.Arg2059Gln) c.6167G>A (p.Arg2056Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5	g.37060951G>C	CA359518832	NIPBL	c.7793G>C (p.Arg2598Pro) c.7646G>C (p.Arg2549Pro) c.263+1786G>C (n.263+1786G>C) n.1675G>C c.1-3627G>C (n.1-3627G>C) c.7049G>C (p.Arg2350Pro) c.7595G>C (p.Arg2532Pro) c.7412G>C (p.Arg2471Pro) c.7133G>C (p.Arg2378Pro) c.6176G>C (p.Arg2059Pro) c.6167G>C (p.Arg2056Pro)
5	g.37060951G=	CA1539583100	NIPBL	c.7793G= (p.Arg2598=) c.7646G= (p.Arg2549=) c.263+1786G= (n.263+1786G=) n.1675G= c.1-3627G= (n.1-3627G=) c.7049G= (p.Arg2350=) c.7595G= (p.Arg2532=) c.7412G= (p.Arg2471=) c.7133G= (p.Arg2378=) c.6176G= (p.Arg2059=) c.6167G= (p.Arg2056=)
5	g.37060951G>T	CA359518836	NIPBL	c.7793G>T (p.Arg2598Leu) c.7646G>T (p.Arg2549Leu) c.263+1786G>T (n.263+1786G>T) n.1675G>T c.1-3627G>T (n.1-3627G>T) c.7049G>T (p.Arg2350Leu) c.7595G>T (p.Arg2532Leu) c.7412G>T (p.Arg2471Leu) c.7133G>T (p.Arg2378Leu) c.6176G>T (p.Arg2059Leu) c.6167G>T (p.Arg2056Leu)
5	g.37060952G>A	CA443916330	NIPBL	c.7794G>A (p.Arg2598=) c.7647G>A (p.Arg2549=) c.263+1787G>A (n.263+1787G>A) n.1676G>A c.1-3626G>A (n.1-3626G>A) c.7050G>A (p.Arg2350=) c.7596G>A (p.Arg2532=) c.7413G>A (p.Arg2471=) c.7134G>A (p.Arg2378=) c.6177G>A (p.Arg2059=) c.6168G>A (p.Arg2056=)	gnomAD v4
5	g.37060952G>C	CA443916331	NIPBL	c.7794G>C (p.Arg2598=) c.7647G>C (p.Arg2549=) c.263+1787G>C (n.263+1787G>C) n.1676G>C c.1-3626G>C (n.1-3626G>C) c.7050G>C (p.Arg2350=) c.7596G>C (p.Arg2532=) c.7413G>C (p.Arg2471=) c.7134G>C (p.Arg2378=) c.6177G>C (p.Arg2059=) c.6168G>C (p.Arg2056=)
5	g.37060952G>T	CA443916332	NIPBL	c.7794G>T (p.Arg2598=) c.7647G>T (p.Arg2549=) c.263+1787G>T (n.263+1787G>T) n.1676G>T c.1-3626G>T (n.1-3626G>T) c.7050G>T (p.Arg2350=) c.7596G>T (p.Arg2532=) c.7413G>T (p.Arg2471=) c.7134G>T (p.Arg2378=) c.6177G>T (p.Arg2059=) c.6168G>T (p.Arg2056=)
5	g.37060953A>C	CA359518840	NIPBL	c.7795A>C (p.Ser2599Arg) c.7648A>C (p.Ser2550Arg) c.263+1788A>C (n.263+1788A>C) n.1677A>C c.1-3625A>C (n.1-3625A>C) c.7051A>C (p.Ser2351Arg) c.7597A>C (p.Ser2533Arg) c.7414A>C (p.Ser2472Arg) c.7135A>C (p.Ser2379Arg) c.6178A>C (p.Ser2060Arg) c.6169A>C (p.Ser2057Arg)
5	g.37060953A>G	CA359518843	NIPBL	c.7795A>G (p.Ser2599Gly) c.7648A>G (p.Ser2550Gly) c.263+1788A>G (n.263+1788A>G) n.1677A>G c.1-3625A>G (n.1-3625A>G) c.7051A>G (p.Ser2351Gly) c.7597A>G (p.Ser2533Gly) c.7414A>G (p.Ser2472Gly) c.7135A>G (p.Ser2379Gly) c.6178A>G (p.Ser2060Gly) c.6169A>G (p.Ser2057Gly)	COSMIC COSMIC
5	g.37060953A>T	CA359518846	NIPBL	c.7795A>T (p.Ser2599Cys) c.7648A>T (p.Ser2550Cys) c.263+1788A>T (n.263+1788A>T) n.1677A>T c.1-3625A>T (n.1-3625A>T) c.7051A>T (p.Ser2351Cys) c.7597A>T (p.Ser2533Cys) c.7414A>T (p.Ser2472Cys) c.7135A>T (p.Ser2379Cys) c.6178A>T (p.Ser2060Cys) c.6169A>T (p.Ser2057Cys)
5	g.37060954G>A	CA359518850	NIPBL	c.7796G>A (p.Ser2599Asn) c.7649G>A (p.Ser2550Asn) c.263+1789G>A (n.263+1789G>A) n.1678G>A c.1-3624G>A (n.1-3624G>A) c.7052G>A (p.Ser2351Asn) c.7598G>A (p.Ser2533Asn) c.7415G>A (p.Ser2472Asn) c.7136G>A (p.Ser2379Asn) c.6179G>A (p.Ser2060Asn) c.6170G>A (p.Ser2057Asn)
5	g.37060954G>C	CA359518854	NIPBL	c.7796G>C (p.Ser2599Thr) c.7649G>C (p.Ser2550Thr) c.263+1789G>C (n.263+1789G>C) n.1678G>C c.1-3624G>C (n.1-3624G>C) c.7052G>C (p.Ser2351Thr) c.7598G>C (p.Ser2533Thr) c.7415G>C (p.Ser2472Thr) c.7136G>C (p.Ser2379Thr) c.6179G>C (p.Ser2060Thr) c.6170G>C (p.Ser2057Thr)
5	g.37060954G>T	CA359518857	NIPBL	c.7796G>T (p.Ser2599Ile) c.7649G>T (p.Ser2550Ile) c.263+1789G>T (n.263+1789G>T) n.1678G>T c.1-3624G>T (n.1-3624G>T) c.7052G>T (p.Ser2351Ile) c.7598G>T (p.Ser2533Ile) c.7415G>T (p.Ser2472Ile) c.7136G>T (p.Ser2379Ile) c.6179G>T (p.Ser2060Ile) c.6170G>T (p.Ser2057Ile)
5	g.37060955T>A	CA359518861	NIPBL	c.7797T>A (p.Ser2599Arg) c.7650T>A (p.Ser2550Arg) c.263+1790T>A (n.263+1790T>A) n.1679T>A c.1-3623T>A (n.1-3623T>A) c.7053T>A (p.Ser2351Arg) c.7599T>A (p.Ser2533Arg) c.7416T>A (p.Ser2472Arg) c.7137T>A (p.Ser2379Arg) c.6180T>A (p.Ser2060Arg) c.6171T>A (p.Ser2057Arg)
5	g.37060955T>C	CA443916333	NIPBL	c.7797T>C (p.Ser2599=) c.7650T>C (p.Ser2550=) c.263+1790T>C (n.263+1790T>C) n.1679T>C c.1-3623T>C (n.1-3623T>C) c.7053T>C (p.Ser2351=) c.7599T>C (p.Ser2533=) c.7416T>C (p.Ser2472=) c.7137T>C (p.Ser2379=) c.6180T>C (p.Ser2060=) c.6171T>C (p.Ser2057=)	dbSNP
5	g.37060955T>G	CA359518864	NIPBL	c.7797T>G (p.Ser2599Arg) c.7650T>G (p.Ser2550Arg) c.263+1790T>G (n.263+1790T>G) n.1679T>G c.1-3623T>G (n.1-3623T>G) c.7053T>G (p.Ser2351Arg) c.7599T>G (p.Ser2533Arg) c.7416T>G (p.Ser2472Arg) c.7137T>G (p.Ser2379Arg) c.6180T>G (p.Ser2060Arg) c.6171T>G (p.Ser2057Arg)
5	g.37060955T=	CA1539583101	NIPBL	c.7797T= (p.Ser2599=) c.7650T= (p.Ser2550=) c.263+1790T= (n.263+1790T=) n.1679T= c.1-3623T= (n.1-3623T=) c.7053T= (p.Ser2351=) c.7599T= (p.Ser2533=) c.7416T= (p.Ser2472=) c.7137T= (p.Ser2379=) c.6180T= (p.Ser2060=) c.6171T= (p.Ser2057=)
5	g.37060956G>A	CA359518866	NIPBL	c.7798G>A (p.Asp2600Asn) c.7651G>A (p.Asp2551Asn) c.263+1791G>A (n.263+1791G>A) n.1680G>A c.1-3622G>A (n.1-3622G>A) c.7054G>A (p.Asp2352Asn) c.7600G>A (p.Asp2534Asn) c.7417G>A (p.Asp2473Asn) c.7138G>A (p.Asp2380Asn) c.6181G>A (p.Asp2061Asn) c.6172G>A (p.Asp2058Asn)
5	g.37060956G>C	CA359518868	NIPBL	c.7798G>C (p.Asp2600His) c.7651G>C (p.Asp2551His) c.263+1791G>C (n.263+1791G>C) n.1680G>C c.1-3622G>C (n.1-3622G>C) c.7054G>C (p.Asp2352His) c.7600G>C (p.Asp2534His) c.7417G>C (p.Asp2473His) c.7138G>C (p.Asp2380His) c.6181G>C (p.Asp2061His) c.6172G>C (p.Asp2058His)
5	g.37060956G>T	CA359518865	NIPBL	c.7798G>T (p.Asp2600Tyr) c.7651G>T (p.Asp2551Tyr) c.263+1791G>T (n.263+1791G>T) n.1680G>T c.1-3622G>T (n.1-3622G>T) c.7054G>T (p.Asp2352Tyr) c.7600G>T (p.Asp2534Tyr) c.7417G>T (p.Asp2473Tyr) c.7138G>T (p.Asp2380Tyr) c.6181G>T (p.Asp2061Tyr) c.6172G>T (p.Asp2058Tyr)
5	g.37060957A>C	CA359518883	NIPBL	c.7799A>C (p.Asp2600Ala) c.7652A>C (p.Asp2551Ala) c.263+1792A>C (n.263+1792A>C) n.1681A>C c.1-3621A>C (n.1-3621A>C) c.7055A>C (p.Asp2352Ala) c.7601A>C (p.Asp2534Ala) c.7418A>C (p.Asp2473Ala) c.7139A>C (p.Asp2380Ala) c.6182A>C (p.Asp2061Ala) c.6173A>C (p.Asp2058Ala)
5	g.37060957A>G	CA359518874	NIPBL	c.7799A>G (p.Asp2600Gly) c.7652A>G (p.Asp2551Gly) c.263+1792A>G (n.263+1792A>G) n.1681A>G c.1-3621A>G (n.1-3621A>G) c.7055A>G (p.Asp2352Gly) c.7601A>G (p.Asp2534Gly) c.7418A>G (p.Asp2473Gly) c.7139A>G (p.Asp2380Gly) c.6182A>G (p.Asp2061Gly) c.6173A>G (p.Asp2058Gly)
5	g.37060957A>T	CA359518878	NIPBL	c.7799A>T (p.Asp2600Val) c.7652A>T (p.Asp2551Val) c.263+1792A>T (n.263+1792A>T) n.1681A>T c.1-3621A>T (n.1-3621A>T) c.7055A>T (p.Asp2352Val) c.7601A>T (p.Asp2534Val) c.7418A>T (p.Asp2473Val) c.7139A>T (p.Asp2380Val) c.6182A>T (p.Asp2061Val) c.6173A>T (p.Asp2058Val)
5	g.37060958C>A	CA359518885	NIPBL	c.7800C>A (p.Asp2600Glu) c.7653C>A (p.Asp2551Glu) c.263+1793C>A (n.263+1793C>A) n.1682C>A c.1-3620C>A (n.1-3620C>A) c.7056C>A (p.Asp2352Glu) c.7602C>A (p.Asp2534Glu) c.7419C>A (p.Asp2473Glu) c.7140C>A (p.Asp2380Glu) c.6183C>A (p.Asp2061Glu) c.6174C>A (p.Asp2058Glu)
5	g.37060958C>G	CA359518889	NIPBL	c.7800C>G (p.Asp2600Glu) c.7653C>G (p.Asp2551Glu) c.263+1793C>G (n.263+1793C>G) n.1682C>G c.1-3620C>G (n.1-3620C>G) c.7056C>G (p.Asp2352Glu) c.7602C>G (p.Asp2534Glu) c.7419C>G (p.Asp2473Glu) c.7140C>G (p.Asp2380Glu) c.6183C>G (p.Asp2061Glu) c.6174C>G (p.Asp2058Glu)
5	g.37060958C>T	CA443916334	NIPBL	c.7800C>T (p.Asp2600=) c.7653C>T (p.Asp2551=) c.263+1793C>T (n.263+1793C>T) n.1682C>T c.1-3620C>T (n.1-3620C>T) c.7056C>T (p.Asp2352=) c.7602C>T (p.Asp2534=) c.7419C>T (p.Asp2473=) c.7140C>T (p.Asp2380=) c.6183C>T (p.Asp2061=) c.6174C>T (p.Asp2058=)
5	g.37060959A=	CA1539583103	NIPBL	c.7801A= (p.Met2601=) c.7654A= (p.Met2552=) c.263+1794A= (n.263+1794A=) n.1683A= c.1-3619A= (n.1-3619A=) c.7057A= (p.Met2353=) c.7603A= (p.Met2535=) c.7420A= (p.Met2474=) c.7141A= (p.Met2381=) c.6184A= (p.Met2062=) c.6175A= (p.Met2059=)
5	g.37060959A>C	CA359518893	NIPBL	c.7801A>C (p.Met2601Leu) c.7654A>C (p.Met2552Leu) c.263+1794A>C (n.263+1794A>C) n.1683A>C c.1-3619A>C (n.1-3619A>C) c.7057A>C (p.Met2353Leu) c.7603A>C (p.Met2535Leu) c.7420A>C (p.Met2474Leu) c.7141A>C (p.Met2381Leu) c.6184A>C (p.Met2062Leu) c.6175A>C (p.Met2059Leu)
5	g.37060959A>G	CA117056932	NIPBL	c.7801A>G (p.Met2601Val) c.7654A>G (p.Met2552Val) c.263+1794A>G (n.263+1794A>G) n.1683A>G c.1-3619A>G (n.1-3619A>G) c.7057A>G (p.Met2353Val) c.7603A>G (p.Met2535Val) c.7420A>G (p.Met2474Val) c.7141A>G (p.Met2381Val) c.6184A>G (p.Met2062Val) c.6175A>G (p.Met2059Val)	dbSNP gnomAD v2 gnomAD v4
5	g.37060959A>T	CA359518897	NIPBL	c.7801A>T (p.Met2601Leu) c.7654A>T (p.Met2552Leu) c.263+1794A>T (n.263+1794A>T) n.1683A>T c.1-3619A>T (n.1-3619A>T) c.7057A>T (p.Met2353Leu) c.7603A>T (p.Met2535Leu) c.7420A>T (p.Met2474Leu) c.7141A>T (p.Met2381Leu) c.6184A>T (p.Met2062Leu) c.6175A>T (p.Met2059Leu)	dbSNP

Number of alleles fetched