Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
5	g.37052397_37052420dup	CA810284540	NIPBL	c.7094_7117dup (p.Asn2372_Thr2373insAsnGlnValGlnGlnAlaIleAsn) n.976_999dup c.1-12181_1-12158dup (n.1-12181_1-12158dup) c.6350_6373dup (p.Asn2124_Thr2125insAsnGlnValGlnGlnAlaIleAsn) c.6896_6919dup (p.Asn2306_Thr2307insAsnGlnValGlnGlnAlaIleAsn) c.6713_6736dup (p.Asn2245_Thr2246insAsnGlnValGlnGlnAlaIleAsn) c.6434_6457dup (p.Asn2152_Thr2153insAsnGlnValGlnGlnAlaIleAsn) c.5477_5500dup (p.Asn1833_Thr1834insAsnGlnValGlnGlnAlaIleAsn) c.5468_5491dup (p.Asn1830_Thr1831insAsnGlnValGlnGlnAlaIleAsn)	dbSNP gnomAD v3 gnomAD v4
5	g.37052406A>C	CA359511201	NIPBL	c.7103A>C (p.Gln2368Pro) n.985A>C c.1-12172A>C (n.1-12172A>C) c.6359A>C (p.Gln2120Pro) c.6905A>C (p.Gln2302Pro) c.6722A>C (p.Gln2241Pro) c.6443A>C (p.Gln2148Pro) c.5486A>C (p.Gln1829Pro) c.5477A>C (p.Gln1826Pro)
5	g.37052406A>G	CA359511204	NIPBL	c.7103A>G (p.Gln2368Arg) n.985A>G c.1-12172A>G (n.1-12172A>G) c.6359A>G (p.Gln2120Arg) c.6905A>G (p.Gln2302Arg) c.6722A>G (p.Gln2241Arg) c.6443A>G (p.Gln2148Arg) c.5486A>G (p.Gln1829Arg) c.5477A>G (p.Gln1826Arg)
5	g.37052406A>T	CA359511207	NIPBL	c.7103A>T (p.Gln2368Leu) n.985A>T c.1-12172A>T (n.1-12172A>T) c.6359A>T (p.Gln2120Leu) c.6905A>T (p.Gln2302Leu) c.6722A>T (p.Gln2241Leu) c.6443A>T (p.Gln2148Leu) c.5486A>T (p.Gln1829Leu) c.5477A>T (p.Gln1826Leu)
5	g.37052407A=	CA1539572148	NIPBL	c.7104A= (p.Gln2368=) n.986A= c.1-12171A= (n.1-12171A=) c.6360A= (p.Gln2120=) c.6906A= (p.Gln2302=) c.6723A= (p.Gln2241=) c.6444A= (p.Gln2148=) c.5487A= (p.Gln1829=) c.5478A= (p.Gln1826=)
5	g.37052407A>C	CA359511210	NIPBL	c.7104A>C (p.Gln2368His) n.986A>C c.1-12171A>C (n.1-12171A>C) c.6360A>C (p.Gln2120His) c.6906A>C (p.Gln2302His) c.6723A>C (p.Gln2241His) c.6444A>C (p.Gln2148His) c.5487A>C (p.Gln1829His) c.5478A>C (p.Gln1826His)
5	g.37052407A>G	CA443911439	NIPBL	c.7104A>G (p.Gln2368=) n.986A>G c.1-12171A>G (n.1-12171A>G) c.6360A>G (p.Gln2120=) c.6906A>G (p.Gln2302=) c.6723A>G (p.Gln2241=) c.6444A>G (p.Gln2148=) c.5487A>G (p.Gln1829=) c.5478A>G (p.Gln1826=)	dbSNP gnomAD v4
5	g.37052407A>T	CA359511212	NIPBL	c.7104A>T (p.Gln2368His) n.986A>T c.1-12171A>T (n.1-12171A>T) c.6360A>T (p.Gln2120His) c.6906A>T (p.Gln2302His) c.6723A>T (p.Gln2241His) c.6444A>T (p.Gln2148His) c.5487A>T (p.Gln1829His) c.5478A>T (p.Gln1826His)
5	g.37052408C>A	CA359511213	NIPBL	c.7105C>A (p.Gln2369Lys) n.987C>A c.1-12170C>A (n.1-12170C>A) c.6361C>A (p.Gln2121Lys) c.6907C>A (p.Gln2303Lys) c.6724C>A (p.Gln2242Lys) c.6445C>A (p.Gln2149Lys) c.5488C>A (p.Gln1830Lys) c.5479C>A (p.Gln1827Lys)	dbSNP gnomAD v2 gnomAD v4
5	g.37052408C=	CA1539572152	NIPBL	c.7105C= (p.Gln2369=) n.987C= c.1-12170C= (n.1-12170C=) c.6361C= (p.Gln2121=) c.6907C= (p.Gln2303=) c.6724C= (p.Gln2242=) c.6445C= (p.Gln2149=) c.5488C= (p.Gln1830=) c.5479C= (p.Gln1827=)
5	g.37052408C>G	CA359511215	NIPBL	c.7105C>G (p.Gln2369Glu) n.987C>G c.1-12170C>G (n.1-12170C>G) c.6361C>G (p.Gln2121Glu) c.6907C>G (p.Gln2303Glu) c.6724C>G (p.Gln2242Glu) c.6445C>G (p.Gln2149Glu) c.5488C>G (p.Gln1830Glu) c.5479C>G (p.Gln1827Glu)
5	g.37052408C>T	CA359511216	NIPBL	c.7105C>T (p.Gln2369Ter) n.987C>T c.1-12170C>T (n.1-12170C>T) c.6361C>T (p.Gln2121Ter) c.6907C>T (p.Gln2303Ter) c.6724C>T (p.Gln2242Ter) c.6445C>T (p.Gln2149Ter) c.5488C>T (p.Gln1830Ter) c.5479C>T (p.Gln1827Ter)
5	g.37052408_37052409delinsCA	CA1539572154	NIPBL	c.7105_7106delinsCA (p.Gln2369=) n.987_988delinsCA c.1-12170_1-12169delinsCA (n.1-12170_1-12169delinsCA) c.6361_6362delinsCA (p.Gln2121=) c.6907_6908delinsCA (p.Gln2303=) c.6724_6725delinsCA (p.Gln2242=) c.6445_6446delinsCA (p.Gln2149=) c.5488_5489delinsCA (p.Gln1830=) c.5479_5480delinsCA (p.Gln1827=)
5	g.37052409del	CA272288	NIPBL	c.7106del (p.Gln2369ArgfsTer7) n.988del c.1-12169del (n.1-12169del) c.6362del (p.Gln2121ArgfsTer7) c.6908del (p.Gln2303ArgfsTer7) c.6725del (p.Gln2242ArgfsTer7) c.6446del (p.Gln2149ArgfsTer7) c.5489del (p.Gln1830ArgfsTer7) c.5480del (p.Gln1827ArgfsTer7)	ClinVar dbSNP
5	g.37052409A>C	CA359511224	NIPBL	c.7106A>C (p.Gln2369Pro) n.988A>C c.1-12169A>C (n.1-12169A>C) c.6362A>C (p.Gln2121Pro) c.6908A>C (p.Gln2303Pro) c.6725A>C (p.Gln2242Pro) c.6446A>C (p.Gln2149Pro) c.5489A>C (p.Gln1830Pro) c.5480A>C (p.Gln1827Pro)
5	g.37052409A>G	CA359511228	NIPBL	c.7106A>G (p.Gln2369Arg) n.988A>G c.1-12169A>G (n.1-12169A>G) c.6362A>G (p.Gln2121Arg) c.6908A>G (p.Gln2303Arg) c.6725A>G (p.Gln2242Arg) c.6446A>G (p.Gln2149Arg) c.5489A>G (p.Gln1830Arg) c.5480A>G (p.Gln1827Arg)
5	g.37052409A>T	CA359511230	NIPBL	c.7106A>T (p.Gln2369Leu) n.988A>T c.1-12169A>T (n.1-12169A>T) c.6362A>T (p.Gln2121Leu) c.6908A>T (p.Gln2303Leu) c.6725A>T (p.Gln2242Leu) c.6446A>T (p.Gln2149Leu) c.5489A>T (p.Gln1830Leu) c.5480A>T (p.Gln1827Leu)
5	g.37052410G>A	CA443911457	NIPBL	c.7107G>A (p.Gln2369=) n.989G>A c.1-12168G>A (n.1-12168G>A) c.6363G>A (p.Gln2121=) c.6909G>A (p.Gln2303=) c.6726G>A (p.Gln2242=) c.6447G>A (p.Gln2149=) c.5490G>A (p.Gln1830=) c.5481G>A (p.Gln1827=)
5	g.37052410G>C	CA359511231	NIPBL	c.7107G>C (p.Gln2369His) n.989G>C c.1-12168G>C (n.1-12168G>C) c.6363G>C (p.Gln2121His) c.6909G>C (p.Gln2303His) c.6726G>C (p.Gln2242His) c.6447G>C (p.Gln2149His) c.5490G>C (p.Gln1830His) c.5481G>C (p.Gln1827His)
5	g.37052410G>T	CA359511232	NIPBL	c.7107G>T (p.Gln2369His) n.989G>T c.1-12168G>T (n.1-12168G>T) c.6363G>T (p.Gln2121His) c.6909G>T (p.Gln2303His) c.6726G>T (p.Gln2242His) c.6447G>T (p.Gln2149His) c.5490G>T (p.Gln1830His) c.5481G>T (p.Gln1827His)
5	g.37052411G>A	CA359511234	NIPBL	c.7108G>A (p.Ala2370Thr) n.990G>A c.1-12167G>A (n.1-12167G>A) c.6364G>A (p.Ala2122Thr) c.6910G>A (p.Ala2304Thr) c.6727G>A (p.Ala2243Thr) c.6448G>A (p.Ala2150Thr) c.5491G>A (p.Ala1831Thr) c.5482G>A (p.Ala1828Thr)
5	g.37052411G>C	CA359511237	NIPBL	c.7108G>C (p.Ala2370Pro) n.990G>C c.1-12167G>C (n.1-12167G>C) c.6364G>C (p.Ala2122Pro) c.6910G>C (p.Ala2304Pro) c.6727G>C (p.Ala2243Pro) c.6448G>C (p.Ala2150Pro) c.5491G>C (p.Ala1831Pro) c.5482G>C (p.Ala1828Pro)
5	g.37052411G>T	CA359511239	NIPBL	c.7108G>T (p.Ala2370Ser) n.990G>T c.1-12167G>T (n.1-12167G>T) c.6364G>T (p.Ala2122Ser) c.6910G>T (p.Ala2304Ser) c.6727G>T (p.Ala2243Ser) c.6448G>T (p.Ala2150Ser) c.5491G>T (p.Ala1831Ser) c.5482G>T (p.Ala1828Ser)	gnomAD v4
5	g.37052412C>A	CA359511240	NIPBL	c.7109C>A (p.Ala2370Glu) n.991C>A c.1-12166C>A (n.1-12166C>A) c.6365C>A (p.Ala2122Glu) c.6911C>A (p.Ala2304Glu) c.6728C>A (p.Ala2243Glu) c.6449C>A (p.Ala2150Glu) c.5492C>A (p.Ala1831Glu) c.5483C>A (p.Ala1828Glu)
5	g.37052412C>G	CA359511242	NIPBL	c.7109C>G (p.Ala2370Gly) n.991C>G c.1-12166C>G (n.1-12166C>G) c.6365C>G (p.Ala2122Gly) c.6911C>G (p.Ala2304Gly) c.6728C>G (p.Ala2243Gly) c.6449C>G (p.Ala2150Gly) c.5492C>G (p.Ala1831Gly) c.5483C>G (p.Ala1828Gly)
5	g.37052412C>T	CA359511245	NIPBL	c.7109C>T (p.Ala2370Val) n.991C>T c.1-12166C>T (n.1-12166C>T) c.6365C>T (p.Ala2122Val) c.6911C>T (p.Ala2304Val) c.6728C>T (p.Ala2243Val) c.6449C>T (p.Ala2150Val) c.5492C>T (p.Ala1831Val) c.5483C>T (p.Ala1828Val)
5	g.37052413A>C	CA443911476	NIPBL	c.7110A>C (p.Ala2370=) n.992A>C c.1-12165A>C (n.1-12165A>C) c.6366A>C (p.Ala2122=) c.6912A>C (p.Ala2304=) c.6729A>C (p.Ala2243=) c.6450A>C (p.Ala2150=) c.5493A>C (p.Ala1831=) c.5484A>C (p.Ala1828=)
5	g.37052413A>G	CA443911478	NIPBL	c.7110A>G (p.Ala2370=) n.992A>G c.1-12165A>G (n.1-12165A>G) c.6366A>G (p.Ala2122=) c.6912A>G (p.Ala2304=) c.6729A>G (p.Ala2243=) c.6450A>G (p.Ala2150=) c.5493A>G (p.Ala1831=) c.5484A>G (p.Ala1828=)	gnomAD v4
5	g.37052413A>T	CA443911474	NIPBL	c.7110A>T (p.Ala2370=) n.992A>T c.1-12165A>T (n.1-12165A>T) c.6366A>T (p.Ala2122=) c.6912A>T (p.Ala2304=) c.6729A>T (p.Ala2243=) c.6450A>T (p.Ala2150=) c.5493A>T (p.Ala1831=) c.5484A>T (p.Ala1828=)
5	g.37052414A=	CA1539572167	NIPBL	c.7111A= (p.Ile2371=) n.993A= c.1-12164A= (n.1-12164A=) c.6367A= (p.Ile2123=) c.6913A= (p.Ile2305=) c.6730A= (p.Ile2244=) c.6451A= (p.Ile2151=) c.5494A= (p.Ile1832=) c.5485A= (p.Ile1829=)
5	g.37052414A>C	CA359511248	NIPBL	c.7111A>C (p.Ile2371Leu) n.993A>C c.1-12164A>C (n.1-12164A>C) c.6367A>C (p.Ile2123Leu) c.6913A>C (p.Ile2305Leu) c.6730A>C (p.Ile2244Leu) c.6451A>C (p.Ile2151Leu) c.5494A>C (p.Ile1832Leu) c.5485A>C (p.Ile1829Leu)
5	g.37052414A>G	CA3237140	NIPBL	c.7111A>G (p.Ile2371Val) n.993A>G c.1-12164A>G (n.1-12164A>G) c.6367A>G (p.Ile2123Val) c.6913A>G (p.Ile2305Val) c.6730A>G (p.Ile2244Val) c.6451A>G (p.Ile2151Val) c.5494A>G (p.Ile1832Val) c.5485A>G (p.Ile1829Val)	ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
5	g.37052414A>T	CA359511250	NIPBL	c.7111A>T (p.Ile2371Phe) n.993A>T c.1-12164A>T (n.1-12164A>T) c.6367A>T (p.Ile2123Phe) c.6913A>T (p.Ile2305Phe) c.6730A>T (p.Ile2244Phe) c.6451A>T (p.Ile2151Phe) c.5494A>T (p.Ile1832Phe) c.5485A>T (p.Ile1829Phe)
5	g.37052415T>A	CA359511254	NIPBL	c.7112T>A (p.Ile2371Asn) n.994T>A c.1-12163T>A (n.1-12163T>A) c.6368T>A (p.Ile2123Asn) c.6914T>A (p.Ile2305Asn) c.6731T>A (p.Ile2244Asn) c.6452T>A (p.Ile2151Asn) c.5495T>A (p.Ile1832Asn) c.5486T>A (p.Ile1829Asn)
5	g.37052415T>C	CA359511251	NIPBL	c.7112T>C (p.Ile2371Thr) n.994T>C c.1-12163T>C (n.1-12163T>C) c.6368T>C (p.Ile2123Thr) c.6914T>C (p.Ile2305Thr) c.6731T>C (p.Ile2244Thr) c.6452T>C (p.Ile2151Thr) c.5495T>C (p.Ile1832Thr) c.5486T>C (p.Ile1829Thr)
5	g.37052415T>G	CA359511253	NIPBL	c.7112T>G (p.Ile2371Ser) n.994T>G c.1-12163T>G (n.1-12163T>G) c.6368T>G (p.Ile2123Ser) c.6914T>G (p.Ile2305Ser) c.6731T>G (p.Ile2244Ser) c.6452T>G (p.Ile2151Ser) c.5495T>G (p.Ile1832Ser) c.5486T>G (p.Ile1829Ser)
5	g.37052416C>A	CA443911491	NIPBL	c.7113C>A (p.Ile2371=) n.995C>A c.1-12162C>A (n.1-12162C>A) c.6369C>A (p.Ile2123=) c.6915C>A (p.Ile2305=) c.6732C>A (p.Ile2244=) c.6453C>A (p.Ile2151=) c.5496C>A (p.Ile1832=) c.5487C>A (p.Ile1829=)	COSMIC COSMIC
5	g.37052416C=	CA1539572170	NIPBL	c.7113C= (p.Ile2371=) n.995C= c.1-12162C= (n.1-12162C=) c.6369C= (p.Ile2123=) c.6915C= (p.Ile2305=) c.6732C= (p.Ile2244=) c.6453C= (p.Ile2151=) c.5496C= (p.Ile1832=) c.5487C= (p.Ile1829=)
5	g.37052416C>G	CA359511255	NIPBL	c.7113C>G (p.Ile2371Met) n.995C>G c.1-12162C>G (n.1-12162C>G) c.6369C>G (p.Ile2123Met) c.6915C>G (p.Ile2305Met) c.6732C>G (p.Ile2244Met) c.6453C>G (p.Ile2151Met) c.5496C>G (p.Ile1832Met) c.5487C>G (p.Ile1829Met)
5	g.37052416C>T	CA443911494	NIPBL	c.7113C>T (p.Ile2371=) n.995C>T c.1-12162C>T (n.1-12162C>T) c.6369C>T (p.Ile2123=) c.6915C>T (p.Ile2305=) c.6732C>T (p.Ile2244=) c.6453C>T (p.Ile2151=) c.5496C>T (p.Ile1832=) c.5487C>T (p.Ile1829=)	dbSNP gnomAD v2 gnomAD v4
5	g.37052417A>C	CA359511258	NIPBL	c.7114A>C (p.Asn2372His) n.996A>C c.1-12161A>C (n.1-12161A>C) c.6370A>C (p.Asn2124His) c.6916A>C (p.Asn2306His) c.6733A>C (p.Asn2245His) c.6454A>C (p.Asn2152His) c.5497A>C (p.Asn1833His) c.5488A>C (p.Asn1830His)
5	g.37052417A>G	CA359511261	NIPBL	c.7114A>G (p.Asn2372Asp) n.996A>G c.1-12161A>G (n.1-12161A>G) c.6370A>G (p.Asn2124Asp) c.6916A>G (p.Asn2306Asp) c.6733A>G (p.Asn2245Asp) c.6454A>G (p.Asn2152Asp) c.5497A>G (p.Asn1833Asp) c.5488A>G (p.Asn1830Asp)
5	g.37052417A>T	CA359511262	NIPBL	c.7114A>T (p.Asn2372Tyr) n.996A>T c.1-12161A>T (n.1-12161A>T) c.6370A>T (p.Asn2124Tyr) c.6916A>T (p.Asn2306Tyr) c.6733A>T (p.Asn2245Tyr) c.6454A>T (p.Asn2152Tyr) c.5497A>T (p.Asn1833Tyr) c.5488A>T (p.Asn1830Tyr)
5	g.37052418A>C	CA359511265	NIPBL	c.7115A>C (p.Asn2372Thr) n.997A>C c.1-12160A>C (n.1-12160A>C) c.6371A>C (p.Asn2124Thr) c.6917A>C (p.Asn2306Thr) c.6734A>C (p.Asn2245Thr) c.6455A>C (p.Asn2152Thr) c.5498A>C (p.Asn1833Thr) c.5489A>C (p.Asn1830Thr)
5	g.37052418A>G	CA359511266	NIPBL	c.7115A>G (p.Asn2372Ser) n.997A>G c.1-12160A>G (n.1-12160A>G) c.6371A>G (p.Asn2124Ser) c.6917A>G (p.Asn2306Ser) c.6734A>G (p.Asn2245Ser) c.6455A>G (p.Asn2152Ser) c.5498A>G (p.Asn1833Ser) c.5489A>G (p.Asn1830Ser)
5	g.37052418A>T	CA359511268	NIPBL	c.7115A>T (p.Asn2372Ile) n.997A>T c.1-12160A>T (n.1-12160A>T) c.6371A>T (p.Asn2124Ile) c.6917A>T (p.Asn2306Ile) c.6734A>T (p.Asn2245Ile) c.6455A>T (p.Asn2152Ile) c.5498A>T (p.Asn1833Ile) c.5489A>T (p.Asn1830Ile)
5	g.37052419C>A	CA359511272	NIPBL	c.7116C>A (p.Asn2372Lys) n.998C>A c.1-12159C>A (n.1-12159C>A) c.6372C>A (p.Asn2124Lys) c.6918C>A (p.Asn2306Lys) c.6735C>A (p.Asn2245Lys) c.6456C>A (p.Asn2152Lys) c.5499C>A (p.Asn1833Lys) c.5490C>A (p.Asn1830Lys)
5	g.37052419C>G	CA359511274	NIPBL	c.7116C>G (p.Asn2372Lys) n.998C>G c.1-12159C>G (n.1-12159C>G) c.6372C>G (p.Asn2124Lys) c.6918C>G (p.Asn2306Lys) c.6735C>G (p.Asn2245Lys) c.6456C>G (p.Asn2152Lys) c.5499C>G (p.Asn1833Lys) c.5490C>G (p.Asn1830Lys)
5	g.37052419C>T	CA443911510	NIPBL	c.7116C>T (p.Asn2372=) n.998C>T c.1-12159C>T (n.1-12159C>T) c.6372C>T (p.Asn2124=) c.6918C>T (p.Asn2306=) c.6735C>T (p.Asn2245=) c.6456C>T (p.Asn2152=) c.5499C>T (p.Asn1833=) c.5490C>T (p.Asn1830=)	gnomAD v4
5	g.37052420A=	CA1539572173	NIPBL	c.7117A= (p.Thr2373=) n.999A= c.1-12158A= (n.1-12158A=) c.6373A= (p.Thr2125=) c.6919A= (p.Thr2307=) c.6736A= (p.Thr2246=) c.6457A= (p.Thr2153=) c.5500A= (p.Thr1834=) c.5491A= (p.Thr1831=)
5	g.37052420A>C	CA359511275	NIPBL	c.7117A>C (p.Thr2373Pro) n.999A>C c.1-12158A>C (n.1-12158A>C) c.6373A>C (p.Thr2125Pro) c.6919A>C (p.Thr2307Pro) c.6736A>C (p.Thr2246Pro) c.6457A>C (p.Thr2153Pro) c.5500A>C (p.Thr1834Pro) c.5491A>C (p.Thr1831Pro)
5	g.37052420A>G	CA3237141	NIPBL	c.7117A>G (p.Thr2373Ala) n.999A>G c.1-12158A>G (n.1-12158A>G) c.6373A>G (p.Thr2125Ala) c.6919A>G (p.Thr2307Ala) c.6736A>G (p.Thr2246Ala) c.6457A>G (p.Thr2153Ala) c.5500A>G (p.Thr1834Ala) c.5491A>G (p.Thr1831Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5	g.37052420A>T	CA359511280	NIPBL	c.7117A>T (p.Thr2373Ser) n.999A>T c.1-12158A>T (n.1-12158A>T) c.6373A>T (p.Thr2125Ser) c.6919A>T (p.Thr2307Ser) c.6736A>T (p.Thr2246Ser) c.6457A>T (p.Thr2153Ser) c.5500A>T (p.Thr1834Ser) c.5491A>T (p.Thr1831Ser)
5	g.37052421C>A	CA359511285	NIPBL	c.7118C>A (p.Thr2373Lys) n.1000C>A c.1-12157C>A (n.1-12157C>A) c.6374C>A (p.Thr2125Lys) c.6920C>A (p.Thr2307Lys) c.6737C>A (p.Thr2246Lys) c.6458C>A (p.Thr2153Lys) c.5501C>A (p.Thr1834Lys) c.5492C>A (p.Thr1831Lys)
5	g.37052421C=	CA1539572181	NIPBL	c.7118C= (p.Thr2373=) n.1000C= c.1-12157C= (n.1-12157C=) c.6374C= (p.Thr2125=) c.6920C= (p.Thr2307=) c.6737C= (p.Thr2246=) c.6458C= (p.Thr2153=) c.5501C= (p.Thr1834=) c.5492C= (p.Thr1831=)
5	g.37052421C>G	CA359511284	NIPBL	c.7118C>G (p.Thr2373Arg) n.1000C>G c.1-12157C>G (n.1-12157C>G) c.6374C>G (p.Thr2125Arg) c.6920C>G (p.Thr2307Arg) c.6737C>G (p.Thr2246Arg) c.6458C>G (p.Thr2153Arg) c.5501C>G (p.Thr1834Arg) c.5492C>G (p.Thr1831Arg)
5	g.37052421C>T	CA3237142	NIPBL	c.7118C>T (p.Thr2373Ile) n.1000C>T c.1-12157C>T (n.1-12157C>T) c.6374C>T (p.Thr2125Ile) c.6920C>T (p.Thr2307Ile) c.6737C>T (p.Thr2246Ile) c.6458C>T (p.Thr2153Ile) c.5501C>T (p.Thr1834Ile) c.5492C>T (p.Thr1831Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5	g.37052422A=	CA1539572187	NIPBL	c.7119A= (p.Thr2373=) n.1001A= c.1-12156A= (n.1-12156A=) c.6375A= (p.Thr2125=) c.6921A= (p.Thr2307=) c.6738A= (p.Thr2246=) c.6459A= (p.Thr2153=) c.5502A= (p.Thr1834=) c.5493A= (p.Thr1831=)
5	g.37052422A>C	CA443911522	NIPBL	c.7119A>C (p.Thr2373=) n.1001A>C c.1-12156A>C (n.1-12156A>C) c.6375A>C (p.Thr2125=) c.6921A>C (p.Thr2307=) c.6738A>C (p.Thr2246=) c.6459A>C (p.Thr2153=) c.5502A>C (p.Thr1834=) c.5493A>C (p.Thr1831=)
5	g.37052422A>G	CA3237143	NIPBL	c.7119A>G (p.Thr2373=) n.1001A>G c.1-12156A>G (n.1-12156A>G) c.6375A>G (p.Thr2125=) c.6921A>G (p.Thr2307=) c.6738A>G (p.Thr2246=) c.6459A>G (p.Thr2153=) c.5502A>G (p.Thr1834=) c.5493A>G (p.Thr1831=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5	g.37052422A>T	CA443911526	NIPBL	c.7119A>T (p.Thr2373=) n.1001A>T c.1-12156A>T (n.1-12156A>T) c.6375A>T (p.Thr2125=) c.6921A>T (p.Thr2307=) c.6738A>T (p.Thr2246=) c.6459A>T (p.Thr2153=) c.5502A>T (p.Thr1834=) c.5493A>T (p.Thr1831=)
5	g.37052423T>A	CA359511290	NIPBL	c.7120T>A (p.Cys2374Ser) n.1002T>A c.1-12155T>A (n.1-12155T>A) c.6376T>A (p.Cys2126Ser) c.6922T>A (p.Cys2308Ser) c.6739T>A (p.Cys2247Ser) c.6460T>A (p.Cys2154Ser) c.5503T>A (p.Cys1835Ser) c.5494T>A (p.Cys1832Ser)
5	g.37052423T>C	CA359511294	NIPBL	c.7120T>C (p.Cys2374Arg) n.1002T>C c.1-12155T>C (n.1-12155T>C) c.6376T>C (p.Cys2126Arg) c.6922T>C (p.Cys2308Arg) c.6739T>C (p.Cys2247Arg) c.6460T>C (p.Cys2154Arg) c.5503T>C (p.Cys1835Arg) c.5494T>C (p.Cys1832Arg)
5	g.37052423T>G	CA359511291	NIPBL	c.7120T>G (p.Cys2374Gly) n.1002T>G c.1-12155T>G (n.1-12155T>G) c.6376T>G (p.Cys2126Gly) c.6922T>G (p.Cys2308Gly) c.6739T>G (p.Cys2247Gly) c.6460T>G (p.Cys2154Gly) c.5503T>G (p.Cys1835Gly) c.5494T>G (p.Cys1832Gly)
5	g.37052424G>A	CA359511297	NIPBL	c.7121G>A (p.Cys2374Tyr) n.1003G>A c.1-12154G>A (n.1-12154G>A) c.6377G>A (p.Cys2126Tyr) c.6923G>A (p.Cys2308Tyr) c.6740G>A (p.Cys2247Tyr) c.6461G>A (p.Cys2154Tyr) c.5504G>A (p.Cys1835Tyr) c.5495G>A (p.Cys1832Tyr)
5	g.37052424G>C	CA359511307	NIPBL	c.7121G>C (p.Cys2374Ser) n.1003G>C c.1-12154G>C (n.1-12154G>C) c.6377G>C (p.Cys2126Ser) c.6923G>C (p.Cys2308Ser) c.6740G>C (p.Cys2247Ser) c.6461G>C (p.Cys2154Ser) c.5504G>C (p.Cys1835Ser) c.5495G>C (p.Cys1832Ser)
5	g.37052424G>T	CA359511306	NIPBL	c.7121G>T (p.Cys2374Phe) n.1003G>T c.1-12154G>T (n.1-12154G>T) c.6377G>T (p.Cys2126Phe) c.6923G>T (p.Cys2308Phe) c.6740G>T (p.Cys2247Phe) c.6461G>T (p.Cys2154Phe) c.5504G>T (p.Cys1835Phe) c.5495G>T (p.Cys1832Phe)
5	g.37052425C>A	CA359511309	NIPBL	c.7122C>A (p.Cys2374Ter) n.1004C>A c.1-12153C>A (n.1-12153C>A) c.6378C>A (p.Cys2126Ter) c.6924C>A (p.Cys2308Ter) c.6741C>A (p.Cys2247Ter) c.6462C>A (p.Cys2154Ter) c.5505C>A (p.Cys1835Ter) c.5496C>A (p.Cys1832Ter)
5	g.37052425C>G	CA359511310	NIPBL	c.7122C>G (p.Cys2374Trp) n.1004C>G c.1-12153C>G (n.1-12153C>G) c.6378C>G (p.Cys2126Trp) c.6924C>G (p.Cys2308Trp) c.6741C>G (p.Cys2247Trp) c.6462C>G (p.Cys2154Trp) c.5505C>G (p.Cys1835Trp) c.5496C>G (p.Cys1832Trp)
5	g.37052425C>T	CA443911541	NIPBL	c.7122C>T (p.Cys2374=) n.1004C>T c.1-12153C>T (n.1-12153C>T) c.6378C>T (p.Cys2126=) c.6924C>T (p.Cys2308=) c.6741C>T (p.Cys2247=) c.6462C>T (p.Cys2154=) c.5505C>T (p.Cys1835=) c.5496C>T (p.Cys1832=)
5	g.37052426C>A	CA359511312	NIPBL	c.7123C>A (p.Leu2375Ile) n.1005C>A c.1-12152C>A (n.1-12152C>A) c.6379C>A (p.Leu2127Ile) c.6925C>A (p.Leu2309Ile) c.6742C>A (p.Leu2248Ile) c.6463C>A (p.Leu2155Ile) c.5506C>A (p.Leu1836Ile) c.5497C>A (p.Leu1833Ile)	ClinVar dbSNP gnomAD v3 gnomAD v4
5	g.37052426C=	CA1539572193	NIPBL	c.7123C= (p.Leu2375=) n.1005C= c.1-12152C= (n.1-12152C=) c.6379C= (p.Leu2127=) c.6925C= (p.Leu2309=) c.6742C= (p.Leu2248=) c.6463C= (p.Leu2155=) c.5506C= (p.Leu1836=) c.5497C= (p.Leu1833=)
5	g.37052426C>G	CA359511313	NIPBL	c.7123C>G (p.Leu2375Val) n.1005C>G c.1-12152C>G (n.1-12152C>G) c.6379C>G (p.Leu2127Val) c.6925C>G (p.Leu2309Val) c.6742C>G (p.Leu2248Val) c.6463C>G (p.Leu2155Val) c.5506C>G (p.Leu1836Val) c.5497C>G (p.Leu1833Val)
5	g.37052426C>T	CA443911548	NIPBL	c.7123C>T (p.Leu2375=) n.1005C>T c.1-12152C>T (n.1-12152C>T) c.6379C>T (p.Leu2127=) c.6925C>T (p.Leu2309=) c.6742C>T (p.Leu2248=) c.6463C>T (p.Leu2155=) c.5506C>T (p.Leu1836=) c.5497C>T (p.Leu1833=)	gnomAD v4
5	g.37052427T>A	CA359511325	NIPBL	c.7124T>A (p.Leu2375Gln) n.1006T>A c.1-12151T>A (n.1-12151T>A) c.6380T>A (p.Leu2127Gln) c.6926T>A (p.Leu2309Gln) c.6743T>A (p.Leu2248Gln) c.6464T>A (p.Leu2155Gln) c.5507T>A (p.Leu1836Gln) c.5498T>A (p.Leu1833Gln)
5	g.37052427T>C	CA359511326	NIPBL	c.7124T>C (p.Leu2375Pro) n.1006T>C c.1-12151T>C (n.1-12151T>C) c.6380T>C (p.Leu2127Pro) c.6926T>C (p.Leu2309Pro) c.6743T>C (p.Leu2248Pro) c.6464T>C (p.Leu2155Pro) c.5507T>C (p.Leu1836Pro) c.5498T>C (p.Leu1833Pro)
5	g.37052427T>G	CA3237144	NIPBL	c.7124T>G (p.Leu2375Arg) n.1006T>G c.1-12151T>G (n.1-12151T>G) c.6380T>G (p.Leu2127Arg) c.6926T>G (p.Leu2309Arg) c.6743T>G (p.Leu2248Arg) c.6464T>G (p.Leu2155Arg) c.5507T>G (p.Leu1836Arg) c.5498T>G (p.Leu1833Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
5	g.37052427T=	CA1539572199	NIPBL	c.7124T= (p.Leu2375=) n.1006T= c.1-12151T= (n.1-12151T=) c.6380T= (p.Leu2127=) c.6926T= (p.Leu2309=) c.6743T= (p.Leu2248=) c.6464T= (p.Leu2155=) c.5507T= (p.Leu1836=) c.5498T= (p.Leu1833=)
5	g.37052428A>C	CA443911557	NIPBL	c.7125A>C (p.Leu2375=) n.1007A>C c.1-12150A>C (n.1-12150A>C) c.6381A>C (p.Leu2127=) c.6927A>C (p.Leu2309=) c.6744A>C (p.Leu2248=) c.6465A>C (p.Leu2155=) c.5508A>C (p.Leu1836=) c.5499A>C (p.Leu1833=)
5	g.37052428A>G	CA443911559	NIPBL	c.7125A>G (p.Leu2375=) n.1007A>G c.1-12150A>G (n.1-12150A>G) c.6381A>G (p.Leu2127=) c.6927A>G (p.Leu2309=) c.6744A>G (p.Leu2248=) c.6465A>G (p.Leu2155=) c.5508A>G (p.Leu1836=) c.5499A>G (p.Leu1833=)
5	g.37052428A>T	CA443911555	NIPBL	c.7125A>T (p.Leu2375=) n.1007A>T c.1-12150A>T (n.1-12150A>T) c.6381A>T (p.Leu2127=) c.6927A>T (p.Leu2309=) c.6744A>T (p.Leu2248=) c.6465A>T (p.Leu2155=) c.5508A>T (p.Leu1836=) c.5499A>T (p.Leu1833=)
5	g.37052429A>C	CA359511327	NIPBL	c.7126A>C (p.Lys2376Gln) n.1008A>C c.1-12149A>C (n.1-12149A>C) c.6382A>C (p.Lys2128Gln) c.6928A>C (p.Lys2310Gln) c.6745A>C (p.Lys2249Gln) c.6466A>C (p.Lys2156Gln) c.5509A>C (p.Lys1837Gln) c.5500A>C (p.Lys1834Gln)
5	g.37052429A>G	CA359511328	NIPBL	c.7126A>G (p.Lys2376Glu) n.1008A>G c.1-12149A>G (n.1-12149A>G) c.6382A>G (p.Lys2128Glu) c.6928A>G (p.Lys2310Glu) c.6745A>G (p.Lys2249Glu) c.6466A>G (p.Lys2156Glu) c.5509A>G (p.Lys1837Glu) c.5500A>G (p.Lys1834Glu)
5	g.37052429A>T	CA359511329	NIPBL	c.7126A>T (p.Lys2376Ter) n.1008A>T c.1-12149A>T (n.1-12149A>T) c.6382A>T (p.Lys2128Ter) c.6928A>T (p.Lys2310Ter) c.6745A>T (p.Lys2249Ter) c.6466A>T (p.Lys2156Ter) c.5509A>T (p.Lys1837Ter) c.5500A>T (p.Lys1834Ter)
5	g.37052430A>C	CA359511331	NIPBL	c.7127A>C (p.Lys2376Thr) n.1009A>C c.1-12148A>C (n.1-12148A>C) c.6383A>C (p.Lys2128Thr) c.6929A>C (p.Lys2310Thr) c.6746A>C (p.Lys2249Thr) c.6467A>C (p.Lys2156Thr) c.5510A>C (p.Lys1837Thr) c.5501A>C (p.Lys1834Thr)
5	g.37052430A>G	CA359511334	NIPBL	c.7127A>G (p.Lys2376Arg) n.1009A>G c.1-12148A>G (n.1-12148A>G) c.6383A>G (p.Lys2128Arg) c.6929A>G (p.Lys2310Arg) c.6746A>G (p.Lys2249Arg) c.6467A>G (p.Lys2156Arg) c.5510A>G (p.Lys1837Arg) c.5501A>G (p.Lys1834Arg)
5	g.37052430A>T	CA359511337	NIPBL	c.7127A>T (p.Lys2376Ile) n.1009A>T c.1-12148A>T (n.1-12148A>T) c.6383A>T (p.Lys2128Ile) c.6929A>T (p.Lys2310Ile) c.6746A>T (p.Lys2249Ile) c.6467A>T (p.Lys2156Ile) c.5510A>T (p.Lys1837Ile) c.5501A>T (p.Lys1834Ile)
5	g.37052431A>C	CA359511341	NIPBL	c.7128A>C (p.Lys2376Asn) n.1010A>C c.1-12147A>C (n.1-12147A>C) c.6384A>C (p.Lys2128Asn) c.6930A>C (p.Lys2310Asn) c.6747A>C (p.Lys2249Asn) c.6468A>C (p.Lys2156Asn) c.5511A>C (p.Lys1837Asn) c.5502A>C (p.Lys1834Asn)	gnomAD v4
5	g.37052431A>G	CA443911572	NIPBL	c.7128A>G (p.Lys2376=) n.1010A>G c.1-12147A>G (n.1-12147A>G) c.6384A>G (p.Lys2128=) c.6930A>G (p.Lys2310=) c.6747A>G (p.Lys2249=) c.6468A>G (p.Lys2156=) c.5511A>G (p.Lys1837=) c.5502A>G (p.Lys1834=)
5	g.37052431A>T	CA359511343	NIPBL	c.7128A>T (p.Lys2376Asn) n.1010A>T c.1-12147A>T (n.1-12147A>T) c.6384A>T (p.Lys2128Asn) c.6930A>T (p.Lys2310Asn) c.6747A>T (p.Lys2249Asn) c.6468A>T (p.Lys2156Asn) c.5511A>T (p.Lys1837Asn) c.5502A>T (p.Lys1834Asn)
5	g.37052432G>A	CA359511345	NIPBL	c.7129G>A (p.Asp2377Asn) n.1011G>A c.1-12146G>A (n.1-12146G>A) c.6385G>A (p.Asp2129Asn) c.6931G>A (p.Asp2311Asn) c.6748G>A (p.Asp2250Asn) c.6469G>A (p.Asp2157Asn) c.5512G>A (p.Asp1838Asn) c.5503G>A (p.Asp1835Asn)
5	g.37052432G>C	CA3237145	NIPBL	c.7129G>C (p.Asp2377His) n.1011G>C c.1-12146G>C (n.1-12146G>C) c.6385G>C (p.Asp2129His) c.6931G>C (p.Asp2311His) c.6748G>C (p.Asp2250His) c.6469G>C (p.Asp2157His) c.5512G>C (p.Asp1838His) c.5503G>C (p.Asp1835His)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5	g.37052432G=	CA1539572205	NIPBL	c.7129G= (p.Asp2377=) n.1011G= c.1-12146G= (n.1-12146G=) c.6385G= (p.Asp2129=) c.6931G= (p.Asp2311=) c.6748G= (p.Asp2250=) c.6469G= (p.Asp2157=) c.5512G= (p.Asp1838=) c.5503G= (p.Asp1835=)
5	g.37052432G>T	CA359511348	NIPBL	c.7129G>T (p.Asp2377Tyr) n.1011G>T c.1-12146G>T (n.1-12146G>T) c.6385G>T (p.Asp2129Tyr) c.6931G>T (p.Asp2311Tyr) c.6748G>T (p.Asp2250Tyr) c.6469G>T (p.Asp2157Tyr) c.5512G>T (p.Asp1838Tyr) c.5503G>T (p.Asp1835Tyr)
5	g.37052433A>C	CA359511350	NIPBL	c.7130A>C (p.Asp2377Ala) n.1012A>C c.1-12145A>C (n.1-12145A>C) c.6386A>C (p.Asp2129Ala) c.6932A>C (p.Asp2311Ala) c.6749A>C (p.Asp2250Ala) c.6470A>C (p.Asp2157Ala) c.5513A>C (p.Asp1838Ala) c.5504A>C (p.Asp1835Ala)
5	g.37052433A>G	CA359511351	NIPBL	c.7130A>G (p.Asp2377Gly) n.1012A>G c.1-12145A>G (n.1-12145A>G) c.6386A>G (p.Asp2129Gly) c.6932A>G (p.Asp2311Gly) c.6749A>G (p.Asp2250Gly) c.6470A>G (p.Asp2157Gly) c.5513A>G (p.Asp1838Gly) c.5504A>G (p.Asp1835Gly)
5	g.37052433A>T	CA359511352	NIPBL	c.7130A>T (p.Asp2377Val) n.1012A>T c.1-12145A>T (n.1-12145A>T) c.6386A>T (p.Asp2129Val) c.6932A>T (p.Asp2311Val) c.6749A>T (p.Asp2250Val) c.6470A>T (p.Asp2157Val) c.5513A>T (p.Asp1838Val) c.5504A>T (p.Asp1835Val)
5	g.37052434T>A	CA359511353	NIPBL	c.7131T>A (p.Asp2377Glu) n.1013T>A c.1-12144T>A (n.1-12144T>A) c.6387T>A (p.Asp2129Glu) c.6933T>A (p.Asp2311Glu) c.6750T>A (p.Asp2250Glu) c.6471T>A (p.Asp2157Glu) c.5514T>A (p.Asp1838Glu) c.5505T>A (p.Asp1835Glu)
5	g.37052434T>C	CA443911589	NIPBL	c.7131T>C (p.Asp2377=) n.1013T>C c.1-12144T>C (n.1-12144T>C) c.6387T>C (p.Asp2129=) c.6933T>C (p.Asp2311=) c.6750T>C (p.Asp2250=) c.6471T>C (p.Asp2157=) c.5514T>C (p.Asp1838=) c.5505T>C (p.Asp1835=)
5	g.37052434T>G	CA359511355	NIPBL	c.7131T>G (p.Asp2377Glu) n.1013T>G c.1-12144T>G (n.1-12144T>G) c.6387T>G (p.Asp2129Glu) c.6933T>G (p.Asp2311Glu) c.6750T>G (p.Asp2250Glu) c.6471T>G (p.Asp2157Glu) c.5514T>G (p.Asp1838Glu) c.5505T>G (p.Asp1835Glu)
5	g.37052435C>A	CA359511359	NIPBL	c.7132C>A (p.Pro2378Thr) n.1014C>A c.1-12143C>A (n.1-12143C>A) c.6388C>A (p.Pro2130Thr) c.6934C>A (p.Pro2312Thr) c.6751C>A (p.Pro2251Thr) c.6472C>A (p.Pro2158Thr) c.5515C>A (p.Pro1839Thr) c.5506C>A (p.Pro1836Thr)	gnomAD v4
5	g.37052435C=	CA1539572211	NIPBL	c.7132C= (p.Pro2378=) n.1014C= c.1-12143C= (n.1-12143C=) c.6388C= (p.Pro2130=) c.6934C= (p.Pro2312=) c.6751C= (p.Pro2251=) c.6472C= (p.Pro2158=) c.5515C= (p.Pro1839=) c.5506C= (p.Pro1836=)
5	g.37052435C>G	CA3237146	NIPBL	c.7132C>G (p.Pro2378Ala) n.1014C>G c.1-12143C>G (n.1-12143C>G) c.6388C>G (p.Pro2130Ala) c.6934C>G (p.Pro2312Ala) c.6751C>G (p.Pro2251Ala) c.6472C>G (p.Pro2158Ala) c.5515C>G (p.Pro1839Ala) c.5506C>G (p.Pro1836Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
5	g.37052435C>T	CA359511363	NIPBL	c.7132C>T (p.Pro2378Ser) n.1014C>T c.1-12143C>T (n.1-12143C>T) c.6388C>T (p.Pro2130Ser) c.6934C>T (p.Pro2312Ser) c.6751C>T (p.Pro2251Ser) c.6472C>T (p.Pro2158Ser) c.5515C>T (p.Pro1839Ser) c.5506C>T (p.Pro1836Ser)
5	g.37052436C>A	CA359511369	NIPBL	c.7133C>A (p.Pro2378His) n.1015C>A c.1-12142C>A (n.1-12142C>A) c.6389C>A (p.Pro2130His) c.6935C>A (p.Pro2312His) c.6752C>A (p.Pro2251His) c.6473C>A (p.Pro2158His) c.5516C>A (p.Pro1839His) c.5507C>A (p.Pro1836His)
5	g.37052436C=	CA1539572216	NIPBL	c.7133C= (p.Pro2378=) n.1015C= c.1-12142C= (n.1-12142C=) c.6389C= (p.Pro2130=) c.6935C= (p.Pro2312=) c.6752C= (p.Pro2251=) c.6473C= (p.Pro2158=) c.5516C= (p.Pro1839=) c.5507C= (p.Pro1836=)
5	g.37052436C>G	CA359511367	NIPBL	c.7133C>G (p.Pro2378Arg) n.1015C>G c.1-12142C>G (n.1-12142C>G) c.6389C>G (p.Pro2130Arg) c.6935C>G (p.Pro2312Arg) c.6752C>G (p.Pro2251Arg) c.6473C>G (p.Pro2158Arg) c.5516C>G (p.Pro1839Arg) c.5507C>G (p.Pro1836Arg)
5	g.37052436C>T	CA359511365	NIPBL	c.7133C>T (p.Pro2378Leu) n.1015C>T c.1-12142C>T (n.1-12142C>T) c.6389C>T (p.Pro2130Leu) c.6935C>T (p.Pro2312Leu) c.6752C>T (p.Pro2251Leu) c.6473C>T (p.Pro2158Leu) c.5516C>T (p.Pro1839Leu) c.5507C>T (p.Pro1836Leu)	dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
5	g.37052437T>A	CA443911601	NIPBL	c.7134T>A (p.Pro2378=) n.1016T>A c.1-12141T>A (n.1-12141T>A) c.6390T>A (p.Pro2130=) c.6936T>A (p.Pro2312=) c.6753T>A (p.Pro2251=) c.6474T>A (p.Pro2158=) c.5517T>A (p.Pro1839=) c.5508T>A (p.Pro1836=)
5	g.37052437T>C	CA443911604	NIPBL	c.7134T>C (p.Pro2378=) n.1016T>C c.1-12141T>C (n.1-12141T>C) c.6390T>C (p.Pro2130=) c.6936T>C (p.Pro2312=) c.6753T>C (p.Pro2251=) c.6474T>C (p.Pro2158=) c.5517T>C (p.Pro1839=) c.5508T>C (p.Pro1836=)	dbSNP gnomAD v4
5	g.37052437T>G	CA443911606	NIPBL	c.7134T>G (p.Pro2378=) n.1016T>G c.1-12141T>G (n.1-12141T>G) c.6390T>G (p.Pro2130=) c.6936T>G (p.Pro2312=) c.6753T>G (p.Pro2251=) c.6474T>G (p.Pro2158=) c.5517T>G (p.Pro1839=) c.5508T>G (p.Pro1836=)
5	g.37052437T=	CA1539572219	NIPBL	c.7134T= (p.Pro2378=) n.1016T= c.1-12141T= (n.1-12141T=) c.6390T= (p.Pro2130=) c.6936T= (p.Pro2312=) c.6753T= (p.Pro2251=) c.6474T= (p.Pro2158=) c.5517T= (p.Pro1839=) c.5508T= (p.Pro1836=)
5	g.37052438G>A	CA359511377	NIPBL	c.7135G>A (p.Val2379Ile) n.1017G>A c.1-12140G>A (n.1-12140G>A) c.6391G>A (p.Val2131Ile) c.6937G>A (p.Val2313Ile) c.6754G>A (p.Val2252Ile) c.6475G>A (p.Val2159Ile) c.5518G>A (p.Val1840Ile) c.5509G>A (p.Val1837Ile)	ClinVar dbSNP gnomAD v2 gnomAD v4
5	g.37052438G>C	CA359511372	NIPBL	c.7135G>C (p.Val2379Leu) n.1017G>C c.1-12140G>C (n.1-12140G>C) c.6391G>C (p.Val2131Leu) c.6937G>C (p.Val2313Leu) c.6754G>C (p.Val2252Leu) c.6475G>C (p.Val2159Leu) c.5518G>C (p.Val1840Leu) c.5509G>C (p.Val1837Leu)
5	g.37052438G=	CA1539572229	NIPBL	c.7135G= (p.Val2379=) n.1017G= c.1-12140G= (n.1-12140G=) c.6391G= (p.Val2131=) c.6937G= (p.Val2313=) c.6754G= (p.Val2252=) c.6475G= (p.Val2159=) c.5518G= (p.Val1840=) c.5509G= (p.Val1837=)
5	g.37052438G>T	CA359511375	NIPBL	c.7135G>T (p.Val2379Leu) n.1017G>T c.1-12140G>T (n.1-12140G>T) c.6391G>T (p.Val2131Leu) c.6937G>T (p.Val2313Leu) c.6754G>T (p.Val2252Leu) c.6475G>T (p.Val2159Leu) c.5518G>T (p.Val1840Leu) c.5509G>T (p.Val1837Leu)
5	g.37052439T>A	CA359511380	NIPBL	c.7136T>A (p.Val2379Glu) n.1018T>A c.1-12139T>A (n.1-12139T>A) c.6392T>A (p.Val2131Glu) c.6938T>A (p.Val2313Glu) c.6755T>A (p.Val2252Glu) c.6476T>A (p.Val2159Glu) c.5519T>A (p.Val1840Glu) c.5510T>A (p.Val1837Glu)
5	g.37052439T>C	CA359511382	NIPBL	c.7136T>C (p.Val2379Ala) n.1018T>C c.1-12139T>C (n.1-12139T>C) c.6392T>C (p.Val2131Ala) c.6938T>C (p.Val2313Ala) c.6755T>C (p.Val2252Ala) c.6476T>C (p.Val2159Ala) c.5519T>C (p.Val1840Ala) c.5510T>C (p.Val1837Ala)
5	g.37052439T>G	CA359511384	NIPBL	c.7136T>G (p.Val2379Gly) n.1018T>G c.1-12139T>G (n.1-12139T>G) c.6392T>G (p.Val2131Gly) c.6938T>G (p.Val2313Gly) c.6755T>G (p.Val2252Gly) c.6476T>G (p.Val2159Gly) c.5519T>G (p.Val1840Gly) c.5510T>G (p.Val1837Gly)
5	g.37052440A>C	CA443911615	NIPBL	c.7137A>C (p.Val2379=) n.1019A>C c.1-12138A>C (n.1-12138A>C) c.6393A>C (p.Val2131=) c.6939A>C (p.Val2313=) c.6756A>C (p.Val2252=) c.6477A>C (p.Val2159=) c.5520A>C (p.Val1840=) c.5511A>C (p.Val1837=)
5	g.37052440A>G	CA443911617	NIPBL	c.7137A>G (p.Val2379=) n.1019A>G c.1-12138A>G (n.1-12138A>G) c.6393A>G (p.Val2131=) c.6939A>G (p.Val2313=) c.6756A>G (p.Val2252=) c.6477A>G (p.Val2159=) c.5520A>G (p.Val1840=) c.5511A>G (p.Val1837=)	gnomAD v4
5	g.37052440A>T	CA443911620	NIPBL	c.7137A>T (p.Val2379=) n.1019A>T c.1-12138A>T (n.1-12138A>T) c.6393A>T (p.Val2131=) c.6939A>T (p.Val2313=) c.6756A>T (p.Val2252=) c.6477A>T (p.Val2159=) c.5520A>T (p.Val1840=) c.5511A>T (p.Val1837=)
5	g.37052441A>C	CA443911622	NIPBL	c.7138A>C (p.Arg2380=) n.1020A>C c.1-12137A>C (n.1-12137A>C) c.6394A>C (p.Arg2132=) c.6940A>C (p.Arg2314=) c.6757A>C (p.Arg2253=) c.6478A>C (p.Arg2160=) c.5521A>C (p.Arg1841=) c.5512A>C (p.Arg1838=)
5	g.37052441A>G	CA359511385	NIPBL	c.7138A>G (p.Arg2380Gly) n.1020A>G c.1-12137A>G (n.1-12137A>G) c.6394A>G (p.Arg2132Gly) c.6940A>G (p.Arg2314Gly) c.6757A>G (p.Arg2253Gly) c.6478A>G (p.Arg2160Gly) c.5521A>G (p.Arg1841Gly) c.5512A>G (p.Arg1838Gly)
5	g.37052441A>T	CA359511386	NIPBL	c.7138A>T (p.Arg2380Trp) n.1020A>T c.1-12137A>T (n.1-12137A>T) c.6394A>T (p.Arg2132Trp) c.6940A>T (p.Arg2314Trp) c.6757A>T (p.Arg2253Trp) c.6478A>T (p.Arg2160Trp) c.5521A>T (p.Arg1841Trp) c.5512A>T (p.Arg1838Trp)
5	g.37052442G>A	CA359511387	NIPBL	c.7139G>A (p.Arg2380Lys) n.1021G>A c.1-12136G>A (n.1-12136G>A) c.6395G>A (p.Arg2132Lys) c.6941G>A (p.Arg2314Lys) c.6758G>A (p.Arg2253Lys) c.6479G>A (p.Arg2160Lys) c.5522G>A (p.Arg1841Lys) c.5513G>A (p.Arg1838Lys)
5	g.37052442G>C	CA359511388	NIPBL	c.7139G>C (p.Arg2380Thr) n.1021G>C c.1-12136G>C (n.1-12136G>C) c.6395G>C (p.Arg2132Thr) c.6941G>C (p.Arg2314Thr) c.6758G>C (p.Arg2253Thr) c.6479G>C (p.Arg2160Thr) c.5522G>C (p.Arg1841Thr) c.5513G>C (p.Arg1838Thr)
5	g.37052442G>T	CA359511389	NIPBL	c.7139G>T (p.Arg2380Met) n.1021G>T c.1-12136G>T (n.1-12136G>T) c.6395G>T (p.Arg2132Met) c.6941G>T (p.Arg2314Met) c.6758G>T (p.Arg2253Met) c.6479G>T (p.Arg2160Met) c.5522G>T (p.Arg1841Met) c.5513G>T (p.Arg1838Met)
5	g.37052443G>A	CA443911632	NIPBL	c.7140G>A (p.Arg2380=) n.1022G>A c.1-12135G>A (n.1-12135G>A) c.6396G>A (p.Arg2132=) c.6942G>A (p.Arg2314=) c.6759G>A (p.Arg2253=) c.6480G>A (p.Arg2160=) c.5523G>A (p.Arg1841=) c.5514G>A (p.Arg1838=)
5	g.37052443G>C	CA359511390	NIPBL	c.7140G>C (p.Arg2380Ser) n.1022G>C c.1-12135G>C (n.1-12135G>C) c.6396G>C (p.Arg2132Ser) c.6942G>C (p.Arg2314Ser) c.6759G>C (p.Arg2253Ser) c.6480G>C (p.Arg2160Ser) c.5523G>C (p.Arg1841Ser) c.5514G>C (p.Arg1838Ser)
5	g.37052443G>T	CA359511391	NIPBL	c.7140G>T (p.Arg2380Ser) n.1022G>T c.1-12135G>T (n.1-12135G>T) c.6396G>T (p.Arg2132Ser) c.6942G>T (p.Arg2314Ser) c.6759G>T (p.Arg2253Ser) c.6480G>T (p.Arg2160Ser) c.5523G>T (p.Arg1841Ser) c.5514G>T (p.Arg1838Ser)
5	g.37052444G>A	CA272289	NIPBL	c.7141G>A (p.Gly2381Ser) n.1023G>A c.1-12134G>A (n.1-12134G>A) c.6397G>A (p.Gly2133Ser) c.6943G>A (p.Gly2315Ser) c.6760G>A (p.Gly2254Ser) c.6481G>A (p.Gly2161Ser) c.5524G>A (p.Gly1842Ser) c.5515G>A (p.Gly1839Ser)	ClinVar dbSNP
5	g.37052444G>C	CA359511395	NIPBL	c.7141G>C (p.Gly2381Arg) n.1023G>C c.1-12134G>C (n.1-12134G>C) c.6397G>C (p.Gly2133Arg) c.6943G>C (p.Gly2315Arg) c.6760G>C (p.Gly2254Arg) c.6481G>C (p.Gly2161Arg) c.5524G>C (p.Gly1842Arg) c.5515G>C (p.Gly1839Arg)	ClinVar
5	g.37052444G=	CA1539572234	NIPBL	c.7141G= (p.Gly2381=) n.1023G= c.1-12134G= (n.1-12134G=) c.6397G= (p.Gly2133=) c.6943G= (p.Gly2315=) c.6760G= (p.Gly2254=) c.6481G= (p.Gly2161=) c.5524G= (p.Gly1842=) c.5515G= (p.Gly1839=)
5	g.37052444G>T	CA359511393	NIPBL	c.7141G>T (p.Gly2381Cys) n.1023G>T c.1-12134G>T (n.1-12134G>T) c.6397G>T (p.Gly2133Cys) c.6943G>T (p.Gly2315Cys) c.6760G>T (p.Gly2254Cys) c.6481G>T (p.Gly2161Cys) c.5524G>T (p.Gly1842Cys) c.5515G>T (p.Gly1839Cys)
5	g.37052445G>A	CA359511397	NIPBL	c.7142G>A (p.Gly2381Asp) n.1024G>A c.1-12133G>A (n.1-12133G>A) c.6398G>A (p.Gly2133Asp) c.6944G>A (p.Gly2315Asp) c.6761G>A (p.Gly2254Asp) c.6482G>A (p.Gly2161Asp) c.5525G>A (p.Gly1842Asp) c.5516G>A (p.Gly1839Asp)
5	g.37052445G>C	CA359511398	NIPBL	c.7142G>C (p.Gly2381Ala) n.1024G>C c.1-12133G>C (n.1-12133G>C) c.6398G>C (p.Gly2133Ala) c.6944G>C (p.Gly2315Ala) c.6761G>C (p.Gly2254Ala) c.6482G>C (p.Gly2161Ala) c.5525G>C (p.Gly1842Ala) c.5516G>C (p.Gly1839Ala)
5	g.37052445G>T	CA359511401	NIPBL	c.7142G>T (p.Gly2381Val) n.1024G>T c.1-12133G>T (n.1-12133G>T) c.6398G>T (p.Gly2133Val) c.6944G>T (p.Gly2315Val) c.6761G>T (p.Gly2254Val) c.6482G>T (p.Gly2161Val) c.5525G>T (p.Gly1842Val) c.5516G>T (p.Gly1839Val)
5	g.37052446T>A	CA443911644	NIPBL	c.7143T>A (p.Gly2381=) n.1025T>A c.1-12132T>A (n.1-12132T>A) c.6399T>A (p.Gly2133=) c.6945T>A (p.Gly2315=) c.6762T>A (p.Gly2254=) c.6483T>A (p.Gly2161=) c.5526T>A (p.Gly1842=) c.5517T>A (p.Gly1839=)
5	g.37052446T>C	CA443911646	NIPBL	c.7143T>C (p.Gly2381=) n.1025T>C c.1-12132T>C (n.1-12132T>C) c.6399T>C (p.Gly2133=) c.6945T>C (p.Gly2315=) c.6762T>C (p.Gly2254=) c.6483T>C (p.Gly2161=) c.5526T>C (p.Gly1842=) c.5517T>C (p.Gly1839=)
5	g.37052446T>G	CA443911648	NIPBL	c.7143T>G (p.Gly2381=) n.1025T>G c.1-12132T>G (n.1-12132T>G) c.6399T>G (p.Gly2133=) c.6945T>G (p.Gly2315=) c.6762T>G (p.Gly2254=) c.6483T>G (p.Gly2161=) c.5526T>G (p.Gly1842=) c.5517T>G (p.Gly1839=)
5	g.37052447T>A	CA359511412	NIPBL	c.7144T>A (p.Phe2382Ile) n.1026T>A c.1-12131T>A (n.1-12131T>A) c.6400T>A (p.Phe2134Ile) c.6946T>A (p.Phe2316Ile) c.6763T>A (p.Phe2255Ile) c.6484T>A (p.Phe2162Ile) c.5527T>A (p.Phe1843Ile) c.5518T>A (p.Phe1840Ile)
5	g.37052447T>C	CA359511416	NIPBL	c.7144T>C (p.Phe2382Leu) n.1026T>C c.1-12131T>C (n.1-12131T>C) c.6400T>C (p.Phe2134Leu) c.6946T>C (p.Phe2316Leu) c.6763T>C (p.Phe2255Leu) c.6484T>C (p.Phe2162Leu) c.5527T>C (p.Phe1843Leu) c.5518T>C (p.Phe1840Leu)
5	g.37052447T>G	CA359511418	NIPBL	c.7144T>G (p.Phe2382Val) n.1026T>G c.1-12131T>G (n.1-12131T>G) c.6400T>G (p.Phe2134Val) c.6946T>G (p.Phe2316Val) c.6763T>G (p.Phe2255Val) c.6484T>G (p.Phe2162Val) c.5527T>G (p.Phe1843Val) c.5518T>G (p.Phe1840Val)
5	g.37052448T>A	CA359511419	NIPBL	c.7145T>A (p.Phe2382Tyr) n.1027T>A c.1-12130T>A (n.1-12130T>A) c.6401T>A (p.Phe2134Tyr) c.6947T>A (p.Phe2316Tyr) c.6764T>A (p.Phe2255Tyr) c.6485T>A (p.Phe2162Tyr) c.5528T>A (p.Phe1843Tyr) c.5519T>A (p.Phe1840Tyr)
5	g.37052448T>C	CA359511422	NIPBL	c.7145T>C (p.Phe2382Ser) n.1027T>C c.1-12130T>C (n.1-12130T>C) c.6401T>C (p.Phe2134Ser) c.6947T>C (p.Phe2316Ser) c.6764T>C (p.Phe2255Ser) c.6485T>C (p.Phe2162Ser) c.5528T>C (p.Phe1843Ser) c.5519T>C (p.Phe1840Ser)
5	g.37052448T>G	CA359511426	NIPBL	c.7145T>G (p.Phe2382Cys) n.1027T>G c.1-12130T>G (n.1-12130T>G) c.6401T>G (p.Phe2134Cys) c.6947T>G (p.Phe2316Cys) c.6764T>G (p.Phe2255Cys) c.6485T>G (p.Phe2162Cys) c.5528T>G (p.Phe1843Cys) c.5519T>G (p.Phe1840Cys)
5	g.37052449C>A	CA359511428	NIPBL	c.7146C>A (p.Phe2382Leu) n.1028C>A c.1-12129C>A (n.1-12129C>A) c.6402C>A (p.Phe2134Leu) c.6948C>A (p.Phe2316Leu) c.6765C>A (p.Phe2255Leu) c.6486C>A (p.Phe2162Leu) c.5529C>A (p.Phe1843Leu) c.5520C>A (p.Phe1840Leu)
5	g.37052449C>G	CA359511430	NIPBL	c.7146C>G (p.Phe2382Leu) n.1028C>G c.1-12129C>G (n.1-12129C>G) c.6402C>G (p.Phe2134Leu) c.6948C>G (p.Phe2316Leu) c.6765C>G (p.Phe2255Leu) c.6486C>G (p.Phe2162Leu) c.5529C>G (p.Phe1843Leu) c.5520C>G (p.Phe1840Leu)
5	g.37052449C>T	CA443911661	NIPBL	c.7146C>T (p.Phe2382=) n.1028C>T c.1-12129C>T (n.1-12129C>T) c.6402C>T (p.Phe2134=) c.6948C>T (p.Phe2316=) c.6765C>T (p.Phe2255=) c.6486C>T (p.Phe2162=) c.5529C>T (p.Phe1843=) c.5520C>T (p.Phe1840=)	COSMIC
5	g.37052450A>C	CA443911666	NIPBL	c.7147A>C (p.Arg2383=) n.1029A>C c.1-12128A>C (n.1-12128A>C) c.6403A>C (p.Arg2135=) c.6949A>C (p.Arg2317=) c.6766A>C (p.Arg2256=) c.6487A>C (p.Arg2163=) c.5530A>C (p.Arg1844=) c.5521A>C (p.Arg1841=)
5	g.37052450A>G	CA359511433	NIPBL	c.7147A>G (p.Arg2383Gly) n.1029A>G c.1-12128A>G (n.1-12128A>G) c.6403A>G (p.Arg2135Gly) c.6949A>G (p.Arg2317Gly) c.6766A>G (p.Arg2256Gly) c.6487A>G (p.Arg2163Gly) c.5530A>G (p.Arg1844Gly) c.5521A>G (p.Arg1841Gly)
5	g.37052450A>T	CA359511434	NIPBL	c.7147A>T (p.Arg2383Ter) n.1029A>T c.1-12128A>T (n.1-12128A>T) c.6403A>T (p.Arg2135Ter) c.6949A>T (p.Arg2317Ter) c.6766A>T (p.Arg2256Ter) c.6487A>T (p.Arg2163Ter) c.5530A>T (p.Arg1844Ter) c.5521A>T (p.Arg1841Ter)
5	g.37052454_37052458del	CA2695204433	NIPBL	c.7151_7155del (p.Gln2384ArgfsTer4) n.1033_1037del c.1-12124_1-12120del (n.1-12124_1-12120del) c.6407_6411del (p.Gln2136ArgfsTer4) c.6953_6957del (p.Gln2318ArgfsTer4) c.6770_6774del (p.Gln2257ArgfsTer4) c.6491_6495del (p.Gln2164ArgfsTer4) c.5534_5538del (p.Gln1845ArgfsTer4) c.5525_5529del (p.Gln1842ArgfsTer4)
5	g.37052451G>A	CA359511439	NIPBL	c.7148G>A (p.Arg2383Lys) n.1030G>A c.1-12127G>A (n.1-12127G>A) c.6404G>A (p.Arg2135Lys) c.6950G>A (p.Arg2317Lys) c.6767G>A (p.Arg2256Lys) c.6488G>A (p.Arg2163Lys) c.5531G>A (p.Arg1844Lys) c.5522G>A (p.Arg1841Lys)
5	g.37052451G>C	CA359511440	NIPBL	c.7148G>C (p.Arg2383Thr) n.1030G>C c.1-12127G>C (n.1-12127G>C) c.6404G>C (p.Arg2135Thr) c.6950G>C (p.Arg2317Thr) c.6767G>C (p.Arg2256Thr) c.6488G>C (p.Arg2163Thr) c.5531G>C (p.Arg1844Thr) c.5522G>C (p.Arg1841Thr)
5	g.37052451G>T	CA359511437	NIPBL	c.7148G>T (p.Arg2383Ile) n.1030G>T c.1-12127G>T (n.1-12127G>T) c.6404G>T (p.Arg2135Ile) c.6950G>T (p.Arg2317Ile) c.6767G>T (p.Arg2256Ile) c.6488G>T (p.Arg2163Ile) c.5531G>T (p.Arg1844Ile) c.5522G>T (p.Arg1841Ile)
5	g.37052452A=	CA1539572242	NIPBL	c.7149A= (p.Arg2383=) n.1031A= c.1-12126A= (n.1-12126A=) c.6405A= (p.Arg2135=) c.6951A= (p.Arg2317=) c.6768A= (p.Arg2256=) c.6489A= (p.Arg2163=) c.5532A= (p.Arg1844=) c.5523A= (p.Arg1841=)
5	g.37052452A>C	CA359511443	NIPBL	c.7149A>C (p.Arg2383Ser) n.1031A>C c.1-12126A>C (n.1-12126A>C) c.6405A>C (p.Arg2135Ser) c.6951A>C (p.Arg2317Ser) c.6768A>C (p.Arg2256Ser) c.6489A>C (p.Arg2163Ser) c.5532A>C (p.Arg1844Ser) c.5523A>C (p.Arg1841Ser)
5	g.37052452A>G	CA3237147	NIPBL	c.7149A>G (p.Arg2383=) n.1031A>G c.1-12126A>G (n.1-12126A>G) c.6405A>G (p.Arg2135=) c.6951A>G (p.Arg2317=) c.6768A>G (p.Arg2256=) c.6489A>G (p.Arg2163=) c.5532A>G (p.Arg1844=) c.5523A>G (p.Arg1841=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5	g.37052452A>T	CA359511447	NIPBL	c.7149A>T (p.Arg2383Ser) n.1031A>T c.1-12126A>T (n.1-12126A>T) c.6405A>T (p.Arg2135Ser) c.6951A>T (p.Arg2317Ser) c.6768A>T (p.Arg2256Ser) c.6489A>T (p.Arg2163Ser) c.5532A>T (p.Arg1844Ser) c.5523A>T (p.Arg1841Ser)
5	g.37052453C>A	CA359511450	NIPBL	c.7150C>A (p.Gln2384Lys) n.1032C>A c.1-12125C>A (n.1-12125C>A) c.6406C>A (p.Gln2136Lys) c.6952C>A (p.Gln2318Lys) c.6769C>A (p.Gln2257Lys) c.6490C>A (p.Gln2164Lys) c.5533C>A (p.Gln1845Lys) c.5524C>A (p.Gln1842Lys)
5	g.37052453C=	CA1539572246	NIPBL	c.7150C= (p.Gln2384=) n.1032C= c.1-12125C= (n.1-12125C=) c.6406C= (p.Gln2136=) c.6952C= (p.Gln2318=) c.6769C= (p.Gln2257=) c.6490C= (p.Gln2164=) c.5533C= (p.Gln1845=) c.5524C= (p.Gln1842=)
5	g.37052453C>G	CA359511452	NIPBL	c.7150C>G (p.Gln2384Glu) n.1032C>G c.1-12125C>G (n.1-12125C>G) c.6406C>G (p.Gln2136Glu) c.6952C>G (p.Gln2318Glu) c.6769C>G (p.Gln2257Glu) c.6490C>G (p.Gln2164Glu) c.5533C>G (p.Gln1845Glu) c.5524C>G (p.Gln1842Glu)
5	g.37052453C>T	CA10654758	NIPBL	c.7150C>T (p.Gln2384Ter) n.1032C>T c.1-12125C>T (n.1-12125C>T) c.6406C>T (p.Gln2136Ter) c.6952C>T (p.Gln2318Ter) c.6769C>T (p.Gln2257Ter) c.6490C>T (p.Gln2164Ter) c.5533C>T (p.Gln1845Ter) c.5524C>T (p.Gln1842Ter)	ClinVar dbSNP
5	g.37052454A>C	CA359511457	NIPBL	c.7151A>C (p.Gln2384Pro) n.1033A>C c.1-12124A>C (n.1-12124A>C) c.6407A>C (p.Gln2136Pro) c.6953A>C (p.Gln2318Pro) c.6770A>C (p.Gln2257Pro) c.6491A>C (p.Gln2164Pro) c.5534A>C (p.Gln1845Pro) c.5525A>C (p.Gln1842Pro)
5	g.37052454A>G	CA359511458	NIPBL	c.7151A>G (p.Gln2384Arg) n.1033A>G c.1-12124A>G (n.1-12124A>G) c.6407A>G (p.Gln2136Arg) c.6953A>G (p.Gln2318Arg) c.6770A>G (p.Gln2257Arg) c.6491A>G (p.Gln2164Arg) c.5534A>G (p.Gln1845Arg) c.5525A>G (p.Gln1842Arg)
5	g.37052454A>T	CA359511460	NIPBL	c.7151A>T (p.Gln2384Leu) n.1033A>T c.1-12124A>T (n.1-12124A>T) c.6407A>T (p.Gln2136Leu) c.6953A>T (p.Gln2318Leu) c.6770A>T (p.Gln2257Leu) c.6491A>T (p.Gln2164Leu) c.5534A>T (p.Gln1845Leu) c.5525A>T (p.Gln1842Leu)
5	g.37052455A=	CA1539572249	NIPBL	c.7152A= (p.Gln2384=) n.1034A= c.1-12123A= (n.1-12123A=) c.6408A= (p.Gln2136=) c.6954A= (p.Gln2318=) c.6771A= (p.Gln2257=) c.6492A= (p.Gln2164=) c.5535A= (p.Gln1845=) c.5526A= (p.Gln1842=)
5	g.37052455A>C	CA359511462	NIPBL	c.7152A>C (p.Gln2384His) n.1034A>C c.1-12123A>C (n.1-12123A>C) c.6408A>C (p.Gln2136His) c.6954A>C (p.Gln2318His) c.6771A>C (p.Gln2257His) c.6492A>C (p.Gln2164His) c.5535A>C (p.Gln1845His) c.5526A>C (p.Gln1842His)
5	g.37052455A>G	CA443911690	NIPBL	c.7152A>G (p.Gln2384=) n.1034A>G c.1-12123A>G (n.1-12123A>G) c.6408A>G (p.Gln2136=) c.6954A>G (p.Gln2318=) c.6771A>G (p.Gln2257=) c.6492A>G (p.Gln2164=) c.5535A>G (p.Gln1845=) c.5526A>G (p.Gln1842=)	dbSNP gnomAD v2
5	g.37052455A>T	CA359511463	NIPBL	c.7152A>T (p.Gln2384His) n.1034A>T c.1-12123A>T (n.1-12123A>T) c.6408A>T (p.Gln2136His) c.6954A>T (p.Gln2318His) c.6771A>T (p.Gln2257His) c.6492A>T (p.Gln2164His) c.5535A>T (p.Gln1845His) c.5526A>T (p.Gln1842His)
5	g.37052456G>A	CA359511465	NIPBL	c.7153G>A (p.Asp2385Asn) n.1035G>A c.1-12122G>A (n.1-12122G>A) c.6409G>A (p.Asp2137Asn) c.6955G>A (p.Asp2319Asn) c.6772G>A (p.Asp2258Asn) c.6493G>A (p.Asp2165Asn) c.5536G>A (p.Asp1846Asn) c.5527G>A (p.Asp1843Asn)	dbSNP gnomAD v3 gnomAD v4
5	g.37052456G>C	CA359511468	NIPBL	c.7153G>C (p.Asp2385His) n.1035G>C c.1-12122G>C (n.1-12122G>C) c.6409G>C (p.Asp2137His) c.6955G>C (p.Asp2319His) c.6772G>C (p.Asp2258His) c.6493G>C (p.Asp2165His) c.5536G>C (p.Asp1846His) c.5527G>C (p.Asp1843His)
5	g.37052456G=	CA1539572252	NIPBL	c.7153G= (p.Asp2385=) n.1035G= c.1-12122G= (n.1-12122G=) c.6409G= (p.Asp2137=) c.6955G= (p.Asp2319=) c.6772G= (p.Asp2258=) c.6493G= (p.Asp2165=) c.5536G= (p.Asp1846=) c.5527G= (p.Asp1843=)
5	g.37052456G>T	CA359511470	NIPBL	c.7153G>T (p.Asp2385Tyr) n.1035G>T c.1-12122G>T (n.1-12122G>T) c.6409G>T (p.Asp2137Tyr) c.6955G>T (p.Asp2319Tyr) c.6772G>T (p.Asp2258Tyr) c.6493G>T (p.Asp2165Tyr) c.5536G>T (p.Asp1846Tyr) c.5527G>T (p.Asp1843Tyr)	gnomAD v4
5	g.37052457A>C	CA359511477	NIPBL	c.7154A>C (p.Asp2385Ala) n.1036A>C c.1-12121A>C (n.1-12121A>C) c.6410A>C (p.Asp2137Ala) c.6956A>C (p.Asp2319Ala) c.6773A>C (p.Asp2258Ala) c.6494A>C (p.Asp2165Ala) c.5537A>C (p.Asp1846Ala) c.5528A>C (p.Asp1843Ala)
5	g.37052457A>G	CA359511476	NIPBL	c.7154A>G (p.Asp2385Gly) n.1036A>G c.1-12121A>G (n.1-12121A>G) c.6410A>G (p.Asp2137Gly) c.6956A>G (p.Asp2319Gly) c.6773A>G (p.Asp2258Gly) c.6494A>G (p.Asp2165Gly) c.5537A>G (p.Asp1846Gly) c.5528A>G (p.Asp1843Gly)	gnomAD v4
5	g.37052457A>T	CA359511473	NIPBL	c.7154A>T (p.Asp2385Val) n.1036A>T c.1-12121A>T (n.1-12121A>T) c.6410A>T (p.Asp2137Val) c.6956A>T (p.Asp2319Val) c.6773A>T (p.Asp2258Val) c.6494A>T (p.Asp2165Val) c.5537A>T (p.Asp1846Val) c.5528A>T (p.Asp1843Val)
5	g.37052458C>A	CA359511479	NIPBL	c.7155C>A (p.Asp2385Glu) n.1037C>A c.1-12120C>A (n.1-12120C>A) c.6411C>A (p.Asp2137Glu) c.6957C>A (p.Asp2319Glu) c.6774C>A (p.Asp2258Glu) c.6495C>A (p.Asp2165Glu) c.5538C>A (p.Asp1846Glu) c.5529C>A (p.Asp1843Glu)
5	g.37052458C=	CA1539572257	NIPBL	c.7155C= (p.Asp2385=) n.1037C= c.1-12120C= (n.1-12120C=) c.6411C= (p.Asp2137=) c.6957C= (p.Asp2319=) c.6774C= (p.Asp2258=) c.6495C= (p.Asp2165=) c.5538C= (p.Asp1846=) c.5529C= (p.Asp1843=)
5	g.37052458C>G	CA359511480	NIPBL	c.7155C>G (p.Asp2385Glu) n.1037C>G c.1-12120C>G (n.1-12120C>G) c.6411C>G (p.Asp2137Glu) c.6957C>G (p.Asp2319Glu) c.6774C>G (p.Asp2258Glu) c.6495C>G (p.Asp2165Glu) c.5538C>G (p.Asp1846Glu) c.5529C>G (p.Asp1843Glu)
5	g.37052458C>T	CA3237148	NIPBL	c.7155C>T (p.Asp2385=) n.1037C>T c.1-12120C>T (n.1-12120C>T) c.6411C>T (p.Asp2137=) c.6957C>T (p.Asp2319=) c.6774C>T (p.Asp2258=) c.6495C>T (p.Asp2165=) c.5538C>T (p.Asp1846=) c.5529C>T (p.Asp1843=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5	g.37052459G>A	CA359511485	NIPBL	c.7156G>A (p.Glu2386Lys) n.1038G>A c.1-12119G>A (n.1-12119G>A) c.6412G>A (p.Glu2138Lys) c.6958G>A (p.Glu2320Lys) c.6775G>A (p.Glu2259Lys) c.6496G>A (p.Glu2166Lys) c.5539G>A (p.Glu1847Lys) c.5530G>A (p.Glu1844Lys)	gnomAD v4 COSMIC COSMIC
5	g.37052459G>C	CA359511487	NIPBL	c.7156G>C (p.Glu2386Gln) n.1038G>C c.1-12119G>C (n.1-12119G>C) c.6412G>C (p.Glu2138Gln) c.6958G>C (p.Glu2320Gln) c.6775G>C (p.Glu2259Gln) c.6496G>C (p.Glu2166Gln) c.5539G>C (p.Glu1847Gln) c.5530G>C (p.Glu1844Gln)
5	g.37052459G>T	CA359511488	NIPBL	c.7156G>T (p.Glu2386Ter) n.1038G>T c.1-12119G>T (n.1-12119G>T) c.6412G>T (p.Glu2138Ter) c.6958G>T (p.Glu2320Ter) c.6775G>T (p.Glu2259Ter) c.6496G>T (p.Glu2166Ter) c.5539G>T (p.Glu1847Ter) c.5530G>T (p.Glu1844Ter)
5	g.37052460A>C	CA359511491	NIPBL	c.7157A>C (p.Glu2386Ala) n.1039A>C c.1-12118A>C (n.1-12118A>C) c.6413A>C (p.Glu2138Ala) c.6959A>C (p.Glu2320Ala) c.6776A>C (p.Glu2259Ala) c.6497A>C (p.Glu2166Ala) c.5540A>C (p.Glu1847Ala) c.5531A>C (p.Glu1844Ala)
5	g.37052460A>G	CA359511492	NIPBL	c.7157A>G (p.Glu2386Gly) n.1039A>G c.1-12118A>G (n.1-12118A>G) c.6413A>G (p.Glu2138Gly) c.6959A>G (p.Glu2320Gly) c.6776A>G (p.Glu2259Gly) c.6497A>G (p.Glu2166Gly) c.5540A>G (p.Glu1847Gly) c.5531A>G (p.Glu1844Gly)
5	g.37052460A>T	CA359511495	NIPBL	c.7157A>T (p.Glu2386Val) n.1039A>T c.1-12118A>T (n.1-12118A>T) c.6413A>T (p.Glu2138Val) c.6959A>T (p.Glu2320Val) c.6776A>T (p.Glu2259Val) c.6497A>T (p.Glu2166Val) c.5540A>T (p.Glu1847Val) c.5531A>T (p.Glu1844Val)
5	g.37052461G>A	CA443911714	NIPBL	c.7158G>A (p.Glu2386=) n.1040G>A c.1-12117G>A (n.1-12117G>A) c.6414G>A (p.Glu2138=) c.6960G>A (p.Glu2320=) c.6777G>A (p.Glu2259=) c.6498G>A (p.Glu2166=) c.5541G>A (p.Glu1847=) c.5532G>A (p.Glu1844=)	gnomAD v4
5	g.37052461G>C	CA359511498	NIPBL	c.7158G>C (p.Glu2386Asp) n.1040G>C c.1-12117G>C (n.1-12117G>C) c.6414G>C (p.Glu2138Asp) c.6960G>C (p.Glu2320Asp) c.6777G>C (p.Glu2259Asp) c.6498G>C (p.Glu2166Asp) c.5541G>C (p.Glu1847Asp) c.5532G>C (p.Glu1844Asp)	gnomAD v4
5	g.37052461G>T	CA359511501	NIPBL	c.7158G>T (p.Glu2386Asp) n.1040G>T c.1-12117G>T (n.1-12117G>T) c.6414G>T (p.Glu2138Asp) c.6960G>T (p.Glu2320Asp) c.6777G>T (p.Glu2259Asp) c.6498G>T (p.Glu2166Asp) c.5541G>T (p.Glu1847Asp) c.5532G>T (p.Glu1844Asp)
5	g.37052462T>A	CA359511505	NIPBL	c.7159T>A (p.Ser2387Thr) n.1041T>A c.1-12116T>A (n.1-12116T>A) c.6415T>A (p.Ser2139Thr) c.6961T>A (p.Ser2321Thr) c.6778T>A (p.Ser2260Thr) c.6499T>A (p.Ser2167Thr) c.5542T>A (p.Ser1848Thr) c.5533T>A (p.Ser1845Thr)
5	g.37052462T>C	CA359511503	NIPBL	c.7159T>C (p.Ser2387Pro) n.1041T>C c.1-12116T>C (n.1-12116T>C) c.6415T>C (p.Ser2139Pro) c.6961T>C (p.Ser2321Pro) c.6778T>C (p.Ser2260Pro) c.6499T>C (p.Ser2167Pro) c.5542T>C (p.Ser1848Pro) c.5533T>C (p.Ser1845Pro)
5	g.37052462T>G	CA359511502	NIPBL	c.7159T>G (p.Ser2387Ala) n.1041T>G c.1-12116T>G (n.1-12116T>G) c.6415T>G (p.Ser2139Ala) c.6961T>G (p.Ser2321Ala) c.6778T>G (p.Ser2260Ala) c.6499T>G (p.Ser2167Ala) c.5542T>G (p.Ser1848Ala) c.5533T>G (p.Ser1845Ala)	dbSNP
5	g.37052462T=	CA1539572263	NIPBL	c.7159T= (p.Ser2387=) n.1041T= c.1-12116T= (n.1-12116T=) c.6415T= (p.Ser2139=) c.6961T= (p.Ser2321=) c.6778T= (p.Ser2260=) c.6499T= (p.Ser2167=) c.5542T= (p.Ser1848=) c.5533T= (p.Ser1845=)
5	g.37052463C>A	CA359511507	NIPBL	c.7160C>A (p.Ser2387Tyr) n.1042C>A c.1-12115C>A (n.1-12115C>A) c.6416C>A (p.Ser2139Tyr) c.6962C>A (p.Ser2321Tyr) c.6779C>A (p.Ser2260Tyr) c.6500C>A (p.Ser2167Tyr) c.5543C>A (p.Ser1848Tyr) c.5534C>A (p.Ser1845Tyr)
5	g.37052463C>G	CA359511508	NIPBL	c.7160C>G (p.Ser2387Cys) n.1042C>G c.1-12115C>G (n.1-12115C>G) c.6416C>G (p.Ser2139Cys) c.6962C>G (p.Ser2321Cys) c.6779C>G (p.Ser2260Cys) c.6500C>G (p.Ser2167Cys) c.5543C>G (p.Ser1848Cys) c.5534C>G (p.Ser1845Cys)
5	g.37052463C>T	CA359511510	NIPBL	c.7160C>T (p.Ser2387Phe) n.1042C>T c.1-12115C>T (n.1-12115C>T) c.6416C>T (p.Ser2139Phe) c.6962C>T (p.Ser2321Phe) c.6779C>T (p.Ser2260Phe) c.6500C>T (p.Ser2167Phe) c.5543C>T (p.Ser1848Phe) c.5534C>T (p.Ser1845Phe)
5	g.37052464C>A	CA443911729	NIPBL	c.7161C>A (p.Ser2387=) n.1043C>A c.1-12114C>A (n.1-12114C>A) c.6417C>A (p.Ser2139=) c.6963C>A (p.Ser2321=) c.6780C>A (p.Ser2260=) c.6501C>A (p.Ser2167=) c.5544C>A (p.Ser1848=) c.5535C>A (p.Ser1845=)
5	g.37052464C=	CA1539572268	NIPBL	c.7161C= (p.Ser2387=) n.1043C= c.1-12114C= (n.1-12114C=) c.6417C= (p.Ser2139=) c.6963C= (p.Ser2321=) c.6780C= (p.Ser2260=) c.6501C= (p.Ser2167=) c.5544C= (p.Ser1848=) c.5535C= (p.Ser1845=)
5	g.37052464C>G	CA443911731	NIPBL	c.7161C>G (p.Ser2387=) n.1043C>G c.1-12114C>G (n.1-12114C>G) c.6417C>G (p.Ser2139=) c.6963C>G (p.Ser2321=) c.6780C>G (p.Ser2260=) c.6501C>G (p.Ser2167=) c.5544C>G (p.Ser1848=) c.5535C>G (p.Ser1845=)	gnomAD v4
5	g.37052464C>T	CA443911733	NIPBL	c.7161C>T (p.Ser2387=) n.1043C>T c.1-12114C>T (n.1-12114C>T) c.6417C>T (p.Ser2139=) c.6963C>T (p.Ser2321=) c.6780C>T (p.Ser2260=) c.6501C>T (p.Ser2167=) c.5544C>T (p.Ser1848=) c.5535C>T (p.Ser1845=)	dbSNP
5	g.37052465T>A	CA359511511	NIPBL	c.7162T>A (p.Ser2388Thr) n.1044T>A c.1-12113T>A (n.1-12113T>A) c.6418T>A (p.Ser2140Thr) c.6964T>A (p.Ser2322Thr) c.6781T>A (p.Ser2261Thr) c.6502T>A (p.Ser2168Thr) c.5545T>A (p.Ser1849Thr) c.5536T>A (p.Ser1846Thr)
5	g.37052465T>C	CA359511514	NIPBL	c.7162T>C (p.Ser2388Pro) n.1044T>C c.1-12113T>C (n.1-12113T>C) c.6418T>C (p.Ser2140Pro) c.6964T>C (p.Ser2322Pro) c.6781T>C (p.Ser2261Pro) c.6502T>C (p.Ser2168Pro) c.5545T>C (p.Ser1849Pro) c.5536T>C (p.Ser1846Pro)
5	g.37052465T>G	CA359511515	NIPBL	c.7162T>G (p.Ser2388Ala) n.1044T>G c.1-12113T>G (n.1-12113T>G) c.6418T>G (p.Ser2140Ala) c.6964T>G (p.Ser2322Ala) c.6781T>G (p.Ser2261Ala) c.6502T>G (p.Ser2168Ala) c.5545T>G (p.Ser1849Ala) c.5536T>G (p.Ser1846Ala)
5	g.37052466C>A	CA359511520	NIPBL	c.7163C>A (p.Ser2388Tyr) n.1045C>A c.1-12112C>A (n.1-12112C>A) c.6419C>A (p.Ser2140Tyr) c.6965C>A (p.Ser2322Tyr) c.6782C>A (p.Ser2261Tyr) c.6503C>A (p.Ser2168Tyr) c.5546C>A (p.Ser1849Tyr) c.5537C>A (p.Ser1846Tyr)
5	g.37052466C=	CA1539572274	NIPBL	c.7163C= (p.Ser2388=) n.1045C= c.1-12112C= (n.1-12112C=) c.6419C= (p.Ser2140=) c.6965C= (p.Ser2322=) c.6782C= (p.Ser2261=) c.6503C= (p.Ser2168=) c.5546C= (p.Ser1849=) c.5537C= (p.Ser1846=)
5	g.37052466C>G	CA359511517	NIPBL	c.7163C>G (p.Ser2388Cys) n.1045C>G c.1-12112C>G (n.1-12112C>G) c.6419C>G (p.Ser2140Cys) c.6965C>G (p.Ser2322Cys) c.6782C>G (p.Ser2261Cys) c.6503C>G (p.Ser2168Cys) c.5546C>G (p.Ser1849Cys) c.5537C>G (p.Ser1846Cys)	dbSNP gnomAD v4
5	g.37052466C>T	CA359511518	NIPBL	c.7163C>T (p.Ser2388Phe) n.1045C>T c.1-12112C>T (n.1-12112C>T) c.6419C>T (p.Ser2140Phe) c.6965C>T (p.Ser2322Phe) c.6782C>T (p.Ser2261Phe) c.6503C>T (p.Ser2168Phe) c.5546C>T (p.Ser1849Phe) c.5537C>T (p.Ser1846Phe)
5	g.37052467T>A	CA3237150	NIPBL	c.7164T>A (p.Ser2388=) n.1046T>A c.1-12111T>A (n.1-12111T>A) c.6420T>A (p.Ser2140=) c.6966T>A (p.Ser2322=) c.6783T>A (p.Ser2261=) c.6504T>A (p.Ser2168=) c.5547T>A (p.Ser1849=) c.5538T>A (p.Ser1846=)	dbSNP ExAC gnomAD v3 gnomAD v4
5	g.37052467T>C	CA3237149	NIPBL	c.7164T>C (p.Ser2388=) n.1046T>C c.1-12111T>C (n.1-12111T>C) c.6420T>C (p.Ser2140=) c.6966T>C (p.Ser2322=) c.6783T>C (p.Ser2261=) c.6504T>C (p.Ser2168=) c.5547T>C (p.Ser1849=) c.5538T>C (p.Ser1846=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5	g.37052467T>G	CA443911748	NIPBL	c.7164T>G (p.Ser2388=) n.1046T>G c.1-12111T>G (n.1-12111T>G) c.6420T>G (p.Ser2140=) c.6966T>G (p.Ser2322=) c.6783T>G (p.Ser2261=) c.6504T>G (p.Ser2168=) c.5547T>G (p.Ser1849=) c.5538T>G (p.Ser1846=)
5	g.37052467T=	CA1539572281	NIPBL	c.7164T= (p.Ser2388=) n.1046T= c.1-12111T= (n.1-12111T=) c.6420T= (p.Ser2140=) c.6966T= (p.Ser2322=) c.6783T= (p.Ser2261=) c.6504T= (p.Ser2168=) c.5547T= (p.Ser1849=) c.5538T= (p.Ser1846=)
5	g.37052468A=	CA1539572287	NIPBL	c.7165A= (p.Ser2389=) n.1047A= c.1-12110A= (n.1-12110A=) c.6421A= (p.Ser2141=) c.6967A= (p.Ser2323=) c.6784A= (p.Ser2262=) c.6505A= (p.Ser2169=) c.5548A= (p.Ser1850=) c.5539A= (p.Ser1847=)
5	g.37052468A>C	CA359511526	NIPBL	c.7165A>C (p.Ser2389Arg) n.1047A>C c.1-12110A>C (n.1-12110A>C) c.6421A>C (p.Ser2141Arg) c.6967A>C (p.Ser2323Arg) c.6784A>C (p.Ser2262Arg) c.6505A>C (p.Ser2169Arg) c.5548A>C (p.Ser1850Arg) c.5539A>C (p.Ser1847Arg)
5	g.37052468A>G	CA359511529	NIPBL	c.7165A>G (p.Ser2389Gly) n.1047A>G c.1-12110A>G (n.1-12110A>G) c.6421A>G (p.Ser2141Gly) c.6967A>G (p.Ser2323Gly) c.6784A>G (p.Ser2262Gly) c.6505A>G (p.Ser2169Gly) c.5548A>G (p.Ser1850Gly) c.5539A>G (p.Ser1847Gly)	dbSNP gnomAD v2 gnomAD v4
5	g.37052468A>T	CA359511532	NIPBL	c.7165A>T (p.Ser2389Cys) n.1047A>T c.1-12110A>T (n.1-12110A>T) c.6421A>T (p.Ser2141Cys) c.6967A>T (p.Ser2323Cys) c.6784A>T (p.Ser2262Cys) c.6505A>T (p.Ser2169Cys) c.5548A>T (p.Ser1850Cys) c.5539A>T (p.Ser1847Cys)
5	g.37052469G>A	CA359511534	NIPBL	c.7166G>A (p.Ser2389Asn) n.1048G>A c.1-12109G>A (n.1-12109G>A) c.6422G>A (p.Ser2141Asn) c.6968G>A (p.Ser2323Asn) c.6785G>A (p.Ser2262Asn) c.6506G>A (p.Ser2169Asn) c.5549G>A (p.Ser1850Asn) c.5540G>A (p.Ser1847Asn)	dbSNP gnomAD v3 gnomAD v4
5	g.37052469G>C	CA359511539	NIPBL	c.7166G>C (p.Ser2389Thr) n.1048G>C c.1-12109G>C (n.1-12109G>C) c.6422G>C (p.Ser2141Thr) c.6968G>C (p.Ser2323Thr) c.6785G>C (p.Ser2262Thr) c.6506G>C (p.Ser2169Thr) c.5549G>C (p.Ser1850Thr) c.5540G>C (p.Ser1847Thr)
5	g.37052469G=	CA1539572290	NIPBL	c.7166G= (p.Ser2389=) n.1048G= c.1-12109G= (n.1-12109G=) c.6422G= (p.Ser2141=) c.6968G= (p.Ser2323=) c.6785G= (p.Ser2262=) c.6506G= (p.Ser2169=) c.5549G= (p.Ser1850=) c.5540G= (p.Ser1847=)
5	g.37052469G>T	CA3237151	NIPBL	c.7166G>T (p.Ser2389Ile) n.1048G>T c.1-12109G>T (n.1-12109G>T) c.6422G>T (p.Ser2141Ile) c.6968G>T (p.Ser2323Ile) c.6785G>T (p.Ser2262Ile) c.6506G>T (p.Ser2169Ile) c.5549G>T (p.Ser1850Ile) c.5540G>T (p.Ser1847Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5	g.37052470C>A	CA359511544	NIPBL	c.7167C>A (p.Ser2389Arg) n.1049C>A c.1-12108C>A (n.1-12108C>A) c.6423C>A (p.Ser2141Arg) c.6969C>A (p.Ser2323Arg) c.6786C>A (p.Ser2262Arg) c.6507C>A (p.Ser2169Arg) c.5550C>A (p.Ser1850Arg) c.5541C>A (p.Ser1847Arg)
5	g.37052470C=	CA1539572292	NIPBL	c.7167C= (p.Ser2389=) n.1049C= c.1-12108C= (n.1-12108C=) c.6423C= (p.Ser2141=) c.6969C= (p.Ser2323=) c.6786C= (p.Ser2262=) c.6507C= (p.Ser2169=) c.5550C= (p.Ser1850=) c.5541C= (p.Ser1847=)
5	g.37052470C>G	CA359511546	NIPBL	c.7167C>G (p.Ser2389Arg) n.1049C>G c.1-12108C>G (n.1-12108C>G) c.6423C>G (p.Ser2141Arg) c.6969C>G (p.Ser2323Arg) c.6786C>G (p.Ser2262Arg) c.6507C>G (p.Ser2169Arg) c.5550C>G (p.Ser1850Arg) c.5541C>G (p.Ser1847Arg)
5	g.37052470C>T	CA443911760	NIPBL	c.7167C>T (p.Ser2389=) n.1049C>T c.1-12108C>T (n.1-12108C>T) c.6423C>T (p.Ser2141=) c.6969C>T (p.Ser2323=) c.6786C>T (p.Ser2262=) c.6507C>T (p.Ser2169=) c.5550C>T (p.Ser1850=) c.5541C>T (p.Ser1847=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5	g.37052471G>A	CA272292	NIPBL	c.7168G>A (p.Ala2390Thr) n.1050G>A c.1-12107G>A (n.1-12107G>A) c.6424G>A (p.Ala2142Thr) c.6970G>A (p.Ala2324Thr) c.6787G>A (p.Ala2263Thr) c.6508G>A (p.Ala2170Thr) c.5551G>A (p.Ala1851Thr) c.5542G>A (p.Ala1848Thr)	ClinVar dbSNP COSMIC COSMIC
5	g.37052471G>C	CA359511551	NIPBL	c.7168G>C (p.Ala2390Pro) n.1050G>C c.1-12107G>C (n.1-12107G>C) c.6424G>C (p.Ala2142Pro) c.6970G>C (p.Ala2324Pro) c.6787G>C (p.Ala2263Pro) c.6508G>C (p.Ala2170Pro) c.5551G>C (p.Ala1851Pro) c.5542G>C (p.Ala1848Pro)
5	g.37052471G=	CA1539572303	NIPBL	c.7168G= (p.Ala2390=) n.1050G= c.1-12107G= (n.1-12107G=) c.6424G= (p.Ala2142=) c.6970G= (p.Ala2324=) c.6787G= (p.Ala2263=) c.6508G= (p.Ala2170=) c.5551G= (p.Ala1851=) c.5542G= (p.Ala1848=)
5	g.37052471G>T	CA359511555	NIPBL	c.7168G>T (p.Ala2390Ser) n.1050G>T c.1-12107G>T (n.1-12107G>T) c.6424G>T (p.Ala2142Ser) c.6970G>T (p.Ala2324Ser) c.6787G>T (p.Ala2263Ser) c.6508G>T (p.Ala2170Ser) c.5551G>T (p.Ala1851Ser) c.5542G>T (p.Ala1848Ser)	ClinVar COSMIC COSMIC
5	g.37052472C>A	CA359511558	NIPBL	c.7169C>A (p.Ala2390Asp) n.1051C>A c.1-12106C>A (n.1-12106C>A) c.6425C>A (p.Ala2142Asp) c.6971C>A (p.Ala2324Asp) c.6788C>A (p.Ala2263Asp) c.6509C>A (p.Ala2170Asp) c.5552C>A (p.Ala1851Asp) c.5543C>A (p.Ala1848Asp)
5	g.37052472C>G	CA359511561	NIPBL	c.7169C>G (p.Ala2390Gly) n.1051C>G c.1-12106C>G (n.1-12106C>G) c.6425C>G (p.Ala2142Gly) c.6971C>G (p.Ala2324Gly) c.6788C>G (p.Ala2263Gly) c.6509C>G (p.Ala2170Gly) c.5552C>G (p.Ala1851Gly) c.5543C>G (p.Ala1848Gly)
5	g.37052472C>T	CA359511567	NIPBL	c.7169C>T (p.Ala2390Val) n.1051C>T c.1-12106C>T (n.1-12106C>T) c.6425C>T (p.Ala2142Val) c.6971C>T (p.Ala2324Val) c.6788C>T (p.Ala2263Val) c.6509C>T (p.Ala2170Val) c.5552C>T (p.Ala1851Val) c.5543C>T (p.Ala1848Val)	ClinVar
5	g.37052473T>A	CA443911777	NIPBL	c.7170T>A (p.Ala2390=) n.1052T>A c.1-12105T>A (n.1-12105T>A) c.6426T>A (p.Ala2142=) c.6972T>A (p.Ala2324=) c.6789T>A (p.Ala2263=) c.6510T>A (p.Ala2170=) c.5553T>A (p.Ala1851=) c.5544T>A (p.Ala1848=)
5	g.37052473T>C	CA443911773	NIPBL	c.7170T>C (p.Ala2390=) n.1052T>C c.1-12105T>C (n.1-12105T>C) c.6426T>C (p.Ala2142=) c.6972T>C (p.Ala2324=) c.6789T>C (p.Ala2263=) c.6510T>C (p.Ala2170=) c.5553T>C (p.Ala1851=) c.5544T>C (p.Ala1848=)
5	g.37052473T>G	CA443911775	NIPBL	c.7170T>G (p.Ala2390=) n.1052T>G c.1-12105T>G (n.1-12105T>G) c.6426T>G (p.Ala2142=) c.6972T>G (p.Ala2324=) c.6789T>G (p.Ala2263=) c.6510T>G (p.Ala2170=) c.5553T>G (p.Ala1851=) c.5544T>G (p.Ala1848=)
5	g.37052474T>A	CA359511568	NIPBL	c.7171T>A (p.Leu2391Met) n.1053T>A c.1-12104T>A (n.1-12104T>A) c.6427T>A (p.Leu2143Met) c.6973T>A (p.Leu2325Met) c.6790T>A (p.Leu2264Met) c.6511T>A (p.Leu2171Met) c.5554T>A (p.Leu1852Met) c.5545T>A (p.Leu1849Met)
5	g.37052474T>C	CA443911781	NIPBL	c.7171T>C (p.Leu2391=) n.1053T>C c.1-12104T>C (n.1-12104T>C) c.6427T>C (p.Leu2143=) c.6973T>C (p.Leu2325=) c.6790T>C (p.Leu2264=) c.6511T>C (p.Leu2171=) c.5554T>C (p.Leu1852=) c.5545T>C (p.Leu1849=)
5	g.37052474T>G	CA359511570	NIPBL	c.7171T>G (p.Leu2391Val) n.1053T>G c.1-12104T>G (n.1-12104T>G) c.6427T>G (p.Leu2143Val) c.6973T>G (p.Leu2325Val) c.6790T>G (p.Leu2264Val) c.6511T>G (p.Leu2171Val) c.5554T>G (p.Leu1852Val) c.5545T>G (p.Leu1849Val)
5	g.37052475T>A	CA359511578	NIPBL	c.7172T>A (p.Leu2391Ter) n.1054T>A c.1-12103T>A (n.1-12103T>A) c.6428T>A (p.Leu2143Ter) c.6974T>A (p.Leu2325Ter) c.6791T>A (p.Leu2264Ter) c.6512T>A (p.Leu2171Ter) c.5555T>A (p.Leu1852Ter) c.5546T>A (p.Leu1849Ter)
5	g.37052475T>C	CA359511574	NIPBL	c.7172T>C (p.Leu2391Ser) n.1054T>C c.1-12103T>C (n.1-12103T>C) c.6428T>C (p.Leu2143Ser) c.6974T>C (p.Leu2325Ser) c.6791T>C (p.Leu2264Ser) c.6512T>C (p.Leu2171Ser) c.5555T>C (p.Leu1852Ser) c.5546T>C (p.Leu1849Ser)	gnomAD v4
5	g.37052475T>G	CA359511573	NIPBL	c.7172T>G (p.Leu2391Trp) n.1054T>G c.1-12103T>G (n.1-12103T>G) c.6428T>G (p.Leu2143Trp) c.6974T>G (p.Leu2325Trp) c.6791T>G (p.Leu2264Trp) c.6512T>G (p.Leu2171Trp) c.5555T>G (p.Leu1852Trp) c.5546T>G (p.Leu1849Trp)
5	g.37052476G>A	CA443911789	NIPBL	c.7173G>A (p.Leu2391=) n.1055G>A c.1-12102G>A (n.1-12102G>A) c.6429G>A (p.Leu2143=) c.6975G>A (p.Leu2325=) c.6792G>A (p.Leu2264=) c.6513G>A (p.Leu2171=) c.5556G>A (p.Leu1852=) c.5547G>A (p.Leu1849=)
5	g.37052476G>C	CA359511580	NIPBL	c.7173G>C (p.Leu2391Phe) n.1055G>C c.1-12102G>C (n.1-12102G>C) c.6429G>C (p.Leu2143Phe) c.6975G>C (p.Leu2325Phe) c.6792G>C (p.Leu2264Phe) c.6513G>C (p.Leu2171Phe) c.5556G>C (p.Leu1852Phe) c.5547G>C (p.Leu1849Phe)
5	g.37052476G=	CA1539572306	NIPBL	c.7173G= (p.Leu2391=) n.1055G= c.1-12102G= (n.1-12102G=) c.6429G= (p.Leu2143=) c.6975G= (p.Leu2325=) c.6792G= (p.Leu2264=) c.6513G= (p.Leu2171=) c.5556G= (p.Leu1852=) c.5547G= (p.Leu1849=)
5	g.37052476G>T	CA3237152	NIPBL	c.7173G>T (p.Leu2391Phe) n.1055G>T c.1-12102G>T (n.1-12102G>T) c.6429G>T (p.Leu2143Phe) c.6975G>T (p.Leu2325Phe) c.6792G>T (p.Leu2264Phe) c.6513G>T (p.Leu2171Phe) c.5556G>T (p.Leu1852Phe) c.5547G>T (p.Leu1849Phe)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5	g.37052477T>A	CA359511583	NIPBL	c.7174T>A (p.Cys2392Ser) n.1056T>A c.1-12101T>A (n.1-12101T>A) c.6430T>A (p.Cys2144Ser) c.6976T>A (p.Cys2326Ser) c.6793T>A (p.Cys2265Ser) c.6514T>A (p.Cys2172Ser) c.5557T>A (p.Cys1853Ser) c.5548T>A (p.Cys1850Ser)
5	g.37052477T>C	CA359511588	NIPBL	c.7174T>C (p.Cys2392Arg) n.1056T>C c.1-12101T>C (n.1-12101T>C) c.6430T>C (p.Cys2144Arg) c.6976T>C (p.Cys2326Arg) c.6793T>C (p.Cys2265Arg) c.6514T>C (p.Cys2172Arg) c.5557T>C (p.Cys1853Arg) c.5548T>C (p.Cys1850Arg)	COSMIC COSMIC
5	g.37052477T>G	CA359511585	NIPBL	c.7174T>G (p.Cys2392Gly) n.1056T>G c.1-12101T>G (n.1-12101T>G) c.6430T>G (p.Cys2144Gly) c.6976T>G (p.Cys2326Gly) c.6793T>G (p.Cys2265Gly) c.6514T>G (p.Cys2172Gly) c.5557T>G (p.Cys1853Gly) c.5548T>G (p.Cys1850Gly)
5	g.37052478G>A	CA10603965	NIPBL	c.7175G>A (p.Cys2392Tyr) n.1057G>A c.1-12100G>A (n.1-12100G>A) c.6431G>A (p.Cys2144Tyr) c.6977G>A (p.Cys2326Tyr) c.6794G>A (p.Cys2265Tyr) c.6515G>A (p.Cys2172Tyr) c.5558G>A (p.Cys1853Tyr) c.5549G>A (p.Cys1850Tyr)	ClinVar dbSNP
5	g.37052478G>C	CA359511592	NIPBL	c.7175G>C (p.Cys2392Ser) n.1057G>C c.1-12100G>C (n.1-12100G>C) c.6431G>C (p.Cys2144Ser) c.6977G>C (p.Cys2326Ser) c.6794G>C (p.Cys2265Ser) c.6515G>C (p.Cys2172Ser) c.5558G>C (p.Cys1853Ser) c.5549G>C (p.Cys1850Ser)
5	g.37052478G=	CA1539572311	NIPBL	c.7175G= (p.Cys2392=) n.1057G= c.1-12100G= (n.1-12100G=) c.6431G= (p.Cys2144=) c.6977G= (p.Cys2326=) c.6794G= (p.Cys2265=) c.6515G= (p.Cys2172=) c.5558G= (p.Cys1853=) c.5549G= (p.Cys1850=)
5	g.37052478G>T	CA359511595	NIPBL	c.7175G>T (p.Cys2392Phe) n.1057G>T c.1-12100G>T (n.1-12100G>T) c.6431G>T (p.Cys2144Phe) c.6977G>T (p.Cys2326Phe) c.6794G>T (p.Cys2265Phe) c.6515G>T (p.Cys2172Phe) c.5558G>T (p.Cys1853Phe) c.5549G>T (p.Cys1850Phe)
5	g.37052479T>A	CA359511596	NIPBL	c.7176T>A (p.Cys2392Ter) n.1058T>A c.1-12099T>A (n.1-12099T>A) c.6432T>A (p.Cys2144Ter) c.6978T>A (p.Cys2326Ter) c.6795T>A (p.Cys2265Ter) c.6516T>A (p.Cys2172Ter) c.5559T>A (p.Cys1853Ter) c.5550T>A (p.Cys1850Ter)
5	g.37052479T>C	CA443911802	NIPBL	c.7176T>C (p.Cys2392=) n.1058T>C c.1-12099T>C (n.1-12099T>C) c.6432T>C (p.Cys2144=) c.6978T>C (p.Cys2326=) c.6795T>C (p.Cys2265=) c.6516T>C (p.Cys2172=) c.5559T>C (p.Cys1853=) c.5550T>C (p.Cys1850=)
5	g.37052479T>G	CA359511598	NIPBL	c.7176T>G (p.Cys2392Trp) n.1058T>G c.1-12099T>G (n.1-12099T>G) c.6432T>G (p.Cys2144Trp) c.6978T>G (p.Cys2326Trp) c.6795T>G (p.Cys2265Trp) c.6516T>G (p.Cys2172Trp) c.5559T>G (p.Cys1853Trp) c.5550T>G (p.Cys1850Trp)
5	g.37052480T>A	CA359511601	NIPBL	c.7177T>A (p.Ser2393Thr) n.1059T>A c.1-12098T>A (n.1-12098T>A) c.6433T>A (p.Ser2145Thr) c.6979T>A (p.Ser2327Thr) c.6796T>A (p.Ser2266Thr) c.6517T>A (p.Ser2173Thr) c.5560T>A (p.Ser1854Thr) c.5551T>A (p.Ser1851Thr)
5	g.37052480T>C	CA359511602	NIPBL	c.7177T>C (p.Ser2393Pro) n.1059T>C c.1-12098T>C (n.1-12098T>C) c.6433T>C (p.Ser2145Pro) c.6979T>C (p.Ser2327Pro) c.6796T>C (p.Ser2266Pro) c.6517T>C (p.Ser2173Pro) c.5560T>C (p.Ser1854Pro) c.5551T>C (p.Ser1851Pro)
5	g.37052480T>G	CA359511606	NIPBL	c.7177T>G (p.Ser2393Ala) n.1059T>G c.1-12098T>G (n.1-12098T>G) c.6433T>G (p.Ser2145Ala) c.6979T>G (p.Ser2327Ala) c.6796T>G (p.Ser2266Ala) c.6517T>G (p.Ser2173Ala) c.5560T>G (p.Ser1854Ala) c.5551T>G (p.Ser1851Ala)
5	g.37052481C>A	CA359511611	NIPBL	c.7178C>A (p.Ser2393Ter) n.1060C>A c.1-12097C>A (n.1-12097C>A) c.6434C>A (p.Ser2145Ter) c.6980C>A (p.Ser2327Ter) c.6797C>A (p.Ser2266Ter) c.6518C>A (p.Ser2173Ter) c.5561C>A (p.Ser1854Ter) c.5552C>A (p.Ser1851Ter)	gnomAD v4
5	g.37052481C>G	CA359511613	NIPBL	c.7178C>G (p.Ser2393Ter) n.1060C>G c.1-12097C>G (n.1-12097C>G) c.6434C>G (p.Ser2145Ter) c.6980C>G (p.Ser2327Ter) c.6797C>G (p.Ser2266Ter) c.6518C>G (p.Ser2173Ter) c.5561C>G (p.Ser1854Ter) c.5552C>G (p.Ser1851Ter)
5	g.37052481C>T	CA359511615	NIPBL	c.7178C>T (p.Ser2393Leu) n.1060C>T c.1-12097C>T (n.1-12097C>T) c.6434C>T (p.Ser2145Leu) c.6980C>T (p.Ser2327Leu) c.6797C>T (p.Ser2266Leu) c.6518C>T (p.Ser2173Leu) c.5561C>T (p.Ser1854Leu) c.5552C>T (p.Ser1851Leu)
5	g.37052482A>C	CA443911819	NIPBL	c.7179A>C (p.Ser2393=) n.1061A>C c.1-12096A>C (n.1-12096A>C) c.6435A>C (p.Ser2145=) c.6981A>C (p.Ser2327=) c.6798A>C (p.Ser2266=) c.6519A>C (p.Ser2173=) c.5562A>C (p.Ser1854=) c.5553A>C (p.Ser1851=)
5	g.37052482A>G	CA443911815	NIPBL	c.7179A>G (p.Ser2393=) n.1061A>G c.1-12096A>G (n.1-12096A>G) c.6435A>G (p.Ser2145=) c.6981A>G (p.Ser2327=) c.6798A>G (p.Ser2266=) c.6519A>G (p.Ser2173=) c.5562A>G (p.Ser1854=) c.5553A>G (p.Ser1851=)
5	g.37052482A>T	CA443911817	NIPBL	c.7179A>T (p.Ser2393=) n.1061A>T c.1-12096A>T (n.1-12096A>T) c.6435A>T (p.Ser2145=) c.6981A>T (p.Ser2327=) c.6798A>T (p.Ser2266=) c.6519A>T (p.Ser2173=) c.5562A>T (p.Ser1854=) c.5553A>T (p.Ser1851=)
5	g.37052483C>A	CA359511627	NIPBL	c.7180C>A (p.His2394Asn) n.1062C>A c.1-12095C>A (n.1-12095C>A) c.6436C>A (p.His2146Asn) c.6982C>A (p.His2328Asn) c.6799C>A (p.His2267Asn) c.6520C>A (p.His2174Asn) c.5563C>A (p.His1855Asn) c.5554C>A (p.His1852Asn)
5	g.37052483C>G	CA359511621	NIPBL	c.7180C>G (p.His2394Asp) n.1062C>G c.1-12095C>G (n.1-12095C>G) c.6436C>G (p.His2146Asp) c.6982C>G (p.His2328Asp) c.6799C>G (p.His2267Asp) c.6520C>G (p.His2174Asp) c.5563C>G (p.His1855Asp) c.5554C>G (p.His1852Asp)
5	g.37052483C>T	CA359511624	NIPBL	c.7180C>T (p.His2394Tyr) n.1062C>T c.1-12095C>T (n.1-12095C>T) c.6436C>T (p.His2146Tyr) c.6982C>T (p.His2328Tyr) c.6799C>T (p.His2267Tyr) c.6520C>T (p.His2174Tyr) c.5563C>T (p.His1855Tyr) c.5554C>T (p.His1852Tyr)
5	g.37052484A>C	CA359511630	NIPBL	c.7181A>C (p.His2394Pro) n.1063A>C c.1-12094A>C (n.1-12094A>C) c.6437A>C (p.His2146Pro) c.6983A>C (p.His2328Pro) c.6800A>C (p.His2267Pro) c.6521A>C (p.His2174Pro) c.5564A>C (p.His1855Pro) c.5555A>C (p.His1852Pro)
5	g.37052484A>G	CA359511632	NIPBL	c.7181A>G (p.His2394Arg) n.1063A>G c.1-12094A>G (n.1-12094A>G) c.6437A>G (p.His2146Arg) c.6983A>G (p.His2328Arg) c.6800A>G (p.His2267Arg) c.6521A>G (p.His2174Arg) c.5564A>G (p.His1855Arg) c.5555A>G (p.His1852Arg)
5	g.37052484A>T	CA359511633	NIPBL	c.7181A>T (p.His2394Leu) n.1063A>T c.1-12094A>T (n.1-12094A>T) c.6437A>T (p.His2146Leu) c.6983A>T (p.His2328Leu) c.6800A>T (p.His2267Leu) c.6521A>T (p.His2174Leu) c.5564A>T (p.His1855Leu) c.5555A>T (p.His1852Leu)
5	g.37052485C>A	CA117051543	NIPBL	c.7182C>A (p.His2394Gln) n.1064C>A c.1-12093C>A (n.1-12093C>A) c.6438C>A (p.His2146Gln) c.6984C>A (p.His2328Gln) c.6801C>A (p.His2267Gln) c.6522C>A (p.His2174Gln) c.5565C>A (p.His1855Gln) c.5556C>A (p.His1852Gln)	dbSNP
5	g.37052485C=	CA1539572318	NIPBL	c.7182C= (p.His2394=) n.1064C= c.1-12093C= (n.1-12093C=) c.6438C= (p.His2146=) c.6984C= (p.His2328=) c.6801C= (p.His2267=) c.6522C= (p.His2174=) c.5565C= (p.His1855=) c.5556C= (p.His1852=)
5	g.37052485C>G	CA359511640	NIPBL	c.7182C>G (p.His2394Gln) n.1064C>G c.1-12093C>G (n.1-12093C>G) c.6438C>G (p.His2146Gln) c.6984C>G (p.His2328Gln) c.6801C>G (p.His2267Gln) c.6522C>G (p.His2174Gln) c.5565C>G (p.His1855Gln) c.5556C>G (p.His1852Gln)
5	g.37052485C>T	CA443911832	NIPBL	c.7182C>T (p.His2394=) n.1064C>T c.1-12093C>T (n.1-12093C>T) c.6438C>T (p.His2146=) c.6984C>T (p.His2328=) c.6801C>T (p.His2267=) c.6522C>T (p.His2174=) c.5565C>T (p.His1855=) c.5556C>T (p.His1852=)	gnomAD v4
5	g.37052486C>A	CA359511642	NIPBL	c.7183C>A (p.Leu2395Ile) n.1065C>A c.1-12092C>A (n.1-12092C>A) c.6439C>A (p.Leu2147Ile) c.6985C>A (p.Leu2329Ile) c.6802C>A (p.Leu2268Ile) c.6523C>A (p.Leu2175Ile) c.5566C>A (p.Leu1856Ile) c.5557C>A (p.Leu1853Ile)
5	g.37052486C>G	CA359511643	NIPBL	c.7183C>G (p.Leu2395Val) n.1065C>G c.1-12092C>G (n.1-12092C>G) c.6439C>G (p.Leu2147Val) c.6985C>G (p.Leu2329Val) c.6802C>G (p.Leu2268Val) c.6523C>G (p.Leu2175Val) c.5566C>G (p.Leu1856Val) c.5557C>G (p.Leu1853Val)
5	g.37052486C>T	CA359511646	NIPBL	c.7183C>T (p.Leu2395Phe) n.1065C>T c.1-12092C>T (n.1-12092C>T) c.6439C>T (p.Leu2147Phe) c.6985C>T (p.Leu2329Phe) c.6802C>T (p.Leu2268Phe) c.6523C>T (p.Leu2175Phe) c.5566C>T (p.Leu1856Phe) c.5557C>T (p.Leu1853Phe)
5	g.37052487T>A	CA359511647	NIPBL	c.7184T>A (p.Leu2395His) n.1066T>A c.1-12091T>A (n.1-12091T>A) c.6440T>A (p.Leu2147His) c.6986T>A (p.Leu2329His) c.6803T>A (p.Leu2268His) c.6524T>A (p.Leu2175His) c.5567T>A (p.Leu1856His) c.5558T>A (p.Leu1853His)
5	g.37052487T>C	CA359511650	NIPBL	c.7184T>C (p.Leu2395Pro) n.1066T>C c.1-12091T>C (n.1-12091T>C) c.6440T>C (p.Leu2147Pro) c.6986T>C (p.Leu2329Pro) c.6803T>C (p.Leu2268Pro) c.6524T>C (p.Leu2175Pro) c.5567T>C (p.Leu1856Pro) c.5558T>C (p.Leu1853Pro)
5	g.37052487T>G	CA359511651	NIPBL	c.7184T>G (p.Leu2395Arg) n.1066T>G c.1-12091T>G (n.1-12091T>G) c.6440T>G (p.Leu2147Arg) c.6986T>G (p.Leu2329Arg) c.6803T>G (p.Leu2268Arg) c.6524T>G (p.Leu2175Arg) c.5567T>G (p.Leu1856Arg) c.5558T>G (p.Leu1853Arg)
5	g.37052488T>A	CA443911844	NIPBL	c.7185T>A (p.Leu2395=) n.1067T>A c.1-12090T>A (n.1-12090T>A) c.6441T>A (p.Leu2147=) c.6987T>A (p.Leu2329=) c.6804T>A (p.Leu2268=) c.6525T>A (p.Leu2175=) c.5568T>A (p.Leu1856=) c.5559T>A (p.Leu1853=)
5	g.37052488T>C	CA443911847	NIPBL	c.7185T>C (p.Leu2395=) n.1067T>C c.1-12090T>C (n.1-12090T>C) c.6441T>C (p.Leu2147=) c.6987T>C (p.Leu2329=) c.6804T>C (p.Leu2268=) c.6525T>C (p.Leu2175=) c.5568T>C (p.Leu1856=) c.5559T>C (p.Leu1853=)
5	g.37052488T>G	CA443911850	NIPBL	c.7185T>G (p.Leu2395=) n.1067T>G c.1-12090T>G (n.1-12090T>G) c.6441T>G (p.Leu2147=) c.6987T>G (p.Leu2329=) c.6804T>G (p.Leu2268=) c.6525T>G (p.Leu2175=) c.5568T>G (p.Leu1856=) c.5559T>G (p.Leu1853=)	dbSNP gnomAD v2 gnomAD v4
5	g.37052488T=	CA1539572322	NIPBL	c.7185T= (p.Leu2395=) n.1067T= c.1-12090T= (n.1-12090T=) c.6441T= (p.Leu2147=) c.6987T= (p.Leu2329=) c.6804T= (p.Leu2268=) c.6525T= (p.Leu2175=) c.5568T= (p.Leu1856=) c.5559T= (p.Leu1853=)
5	g.37052489T>A	CA359511654	NIPBL	c.7186T>A (p.Tyr2396Asn) n.1068T>A c.1-12089T>A (n.1-12089T>A) c.6442T>A (p.Tyr2148Asn) c.6988T>A (p.Tyr2330Asn) c.6805T>A (p.Tyr2269Asn) c.6526T>A (p.Tyr2176Asn) c.5569T>A (p.Tyr1857Asn) c.5560T>A (p.Tyr1854Asn)
5	g.37052489T>C	CA359511656	NIPBL	c.7186T>C (p.Tyr2396His) n.1068T>C c.1-12089T>C (n.1-12089T>C) c.6442T>C (p.Tyr2148His) c.6988T>C (p.Tyr2330His) c.6805T>C (p.Tyr2269His) c.6526T>C (p.Tyr2176His) c.5569T>C (p.Tyr1857His) c.5560T>C (p.Tyr1854His)
5	g.37052489T>G	CA359511653	NIPBL	c.7186T>G (p.Tyr2396Asp) n.1068T>G c.1-12089T>G (n.1-12089T>G) c.6442T>G (p.Tyr2148Asp) c.6988T>G (p.Tyr2330Asp) c.6805T>G (p.Tyr2269Asp) c.6526T>G (p.Tyr2176Asp) c.5569T>G (p.Tyr1857Asp) c.5560T>G (p.Tyr1854Asp)
5	g.37052490A>C	CA359511659	NIPBL	c.7187A>C (p.Tyr2396Ser) n.1069A>C c.1-12088A>C (n.1-12088A>C) c.6443A>C (p.Tyr2148Ser) c.6989A>C (p.Tyr2330Ser) c.6806A>C (p.Tyr2269Ser) c.6527A>C (p.Tyr2176Ser) c.5570A>C (p.Tyr1857Ser) c.5561A>C (p.Tyr1854Ser)
5	g.37052490A>G	CA359511662	NIPBL	c.7187A>G (p.Tyr2396Cys) n.1069A>G c.1-12088A>G (n.1-12088A>G) c.6443A>G (p.Tyr2148Cys) c.6989A>G (p.Tyr2330Cys) c.6806A>G (p.Tyr2269Cys) c.6527A>G (p.Tyr2176Cys) c.5570A>G (p.Tyr1857Cys) c.5561A>G (p.Tyr1854Cys)
5	g.37052490A>T	CA359511664	NIPBL	c.7187A>T (p.Tyr2396Phe) n.1069A>T c.1-12088A>T (n.1-12088A>T) c.6443A>T (p.Tyr2148Phe) c.6989A>T (p.Tyr2330Phe) c.6806A>T (p.Tyr2269Phe) c.6527A>T (p.Tyr2176Phe) c.5570A>T (p.Tyr1857Phe) c.5561A>T (p.Tyr1854Phe)
5	g.37052491C>A	CA359511665	NIPBL	c.7188C>A (p.Tyr2396Ter) n.1070C>A c.1-12087C>A (n.1-12087C>A) c.6444C>A (p.Tyr2148Ter) c.6990C>A (p.Tyr2330Ter) c.6807C>A (p.Tyr2269Ter) c.6528C>A (p.Tyr2176Ter) c.5571C>A (p.Tyr1857Ter) c.5562C>A (p.Tyr1854Ter)
5	g.37052491C=	CA1539572326	NIPBL	c.7188C= (p.Tyr2396=) n.1070C= c.1-12087C= (n.1-12087C=) c.6444C= (p.Tyr2148=) c.6990C= (p.Tyr2330=) c.6807C= (p.Tyr2269=) c.6528C= (p.Tyr2176=) c.5571C= (p.Tyr1857=) c.5562C= (p.Tyr1854=)
5	g.37052491C>G	CA359511666	NIPBL	c.7188C>G (p.Tyr2396Ter) n.1070C>G c.1-12087C>G (n.1-12087C>G) c.6444C>G (p.Tyr2148Ter) c.6990C>G (p.Tyr2330Ter) c.6807C>G (p.Tyr2269Ter) c.6528C>G (p.Tyr2176Ter) c.5571C>G (p.Tyr1857Ter) c.5562C>G (p.Tyr1854Ter)
5	g.37052491C>T	CA3237153	NIPBL	c.7188C>T (p.Tyr2396=) n.1070C>T c.1-12087C>T (n.1-12087C>T) c.6444C>T (p.Tyr2148=) c.6990C>T (p.Tyr2330=) c.6807C>T (p.Tyr2269=) c.6528C>T (p.Tyr2176=) c.5571C>T (p.Tyr1857=) c.5562C>T (p.Tyr1854=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5	g.37052492T>A	CA359511675	NIPBL	c.7189T>A (p.Ser2397Thr) n.1071T>A c.1-12086T>A (n.1-12086T>A) c.6445T>A (p.Ser2149Thr) c.6991T>A (p.Ser2331Thr) c.6808T>A (p.Ser2270Thr) c.6529T>A (p.Ser2177Thr) c.5572T>A (p.Ser1858Thr) c.5563T>A (p.Ser1855Thr)
5	g.37052492T>C	CA359511677	NIPBL	c.7189T>C (p.Ser2397Pro) n.1071T>C c.1-12086T>C (n.1-12086T>C) c.6445T>C (p.Ser2149Pro) c.6991T>C (p.Ser2331Pro) c.6808T>C (p.Ser2270Pro) c.6529T>C (p.Ser2177Pro) c.5572T>C (p.Ser1858Pro) c.5563T>C (p.Ser1855Pro)
5	g.37052492T>G	CA359511679	NIPBL	c.7189T>G (p.Ser2397Ala) n.1071T>G c.1-12086T>G (n.1-12086T>G) c.6445T>G (p.Ser2149Ala) c.6991T>G (p.Ser2331Ala) c.6808T>G (p.Ser2270Ala) c.6529T>G (p.Ser2177Ala) c.5572T>G (p.Ser1858Ala) c.5563T>G (p.Ser1855Ala)
5	g.37052493C>A	CA359511683	NIPBL	c.7190C>A (p.Ser2397Tyr) n.1072C>A c.1-12085C>A (n.1-12085C>A) c.6446C>A (p.Ser2149Tyr) c.6992C>A (p.Ser2331Tyr) c.6809C>A (p.Ser2270Tyr) c.6530C>A (p.Ser2177Tyr) c.5573C>A (p.Ser1858Tyr) c.5564C>A (p.Ser1855Tyr)
5	g.37052493C>G	CA359511687	NIPBL	c.7190C>G (p.Ser2397Cys) n.1072C>G c.1-12085C>G (n.1-12085C>G) c.6446C>G (p.Ser2149Cys) c.6992C>G (p.Ser2331Cys) c.6809C>G (p.Ser2270Cys) c.6530C>G (p.Ser2177Cys) c.5573C>G (p.Ser1858Cys) c.5564C>G (p.Ser1855Cys)
5	g.37052493C>T	CA359511698	NIPBL	c.7190C>T (p.Ser2397Phe) n.1072C>T c.1-12085C>T (n.1-12085C>T) c.6446C>T (p.Ser2149Phe) c.6992C>T (p.Ser2331Phe) c.6809C>T (p.Ser2270Phe) c.6530C>T (p.Ser2177Phe) c.5573C>T (p.Ser1858Phe) c.5564C>T (p.Ser1855Phe)	gnomAD v4
5	g.37052494C>A	CA443911875	NIPBL	c.7191C>A (p.Ser2397=) n.1073C>A c.1-12084C>A (n.1-12084C>A) c.6447C>A (p.Ser2149=) c.6993C>A (p.Ser2331=) c.6810C>A (p.Ser2270=) c.6531C>A (p.Ser2177=) c.5574C>A (p.Ser1858=) c.5565C>A (p.Ser1855=)
5	g.37052494C>G	CA443911877	NIPBL	c.7191C>G (p.Ser2397=) n.1073C>G c.1-12084C>G (n.1-12084C>G) c.6447C>G (p.Ser2149=) c.6993C>G (p.Ser2331=) c.6810C>G (p.Ser2270=) c.6531C>G (p.Ser2177=) c.5574C>G (p.Ser1858=) c.5565C>G (p.Ser1855=)
5	g.37052494C>T	CA443911880	NIPBL	c.7191C>T (p.Ser2397=) n.1073C>T c.1-12084C>T (n.1-12084C>T) c.6447C>T (p.Ser2149=) c.6993C>T (p.Ser2331=) c.6810C>T (p.Ser2270=) c.6531C>T (p.Ser2177=) c.5574C>T (p.Ser1858=) c.5565C>T (p.Ser1855=)
5	g.37052494_37052498del	CA2549411549	NIPBL	c.7191_7195del (p.Met2398ProfsTer19) n.1073_1077del c.1-12084_1-12080del (n.1-12084_1-12080del) c.6447_6451del (p.Met2150ProfsTer19) c.6993_6997del (p.Met2332ProfsTer19) c.6810_6814del (p.Met2271ProfsTer19) c.6531_6535del (p.Met2178ProfsTer19) c.5574_5578del (p.Met1859ProfsTer19) c.5565_5569del (p.Met1856ProfsTer19)
5	g.37052495A=	CA1539572330	NIPBL	c.7192A= (p.Met2398=) n.1074A= c.1-12083A= (n.1-12083A=) c.6448A= (p.Met2150=) c.6994A= (p.Met2332=) c.6811A= (p.Met2271=) c.6532A= (p.Met2178=) c.5575A= (p.Met1859=) c.5566A= (p.Met1856=)
5	g.37052495A>C	CA359511704	NIPBL	c.7192A>C (p.Met2398Leu) n.1074A>C c.1-12083A>C (n.1-12083A>C) c.6448A>C (p.Met2150Leu) c.6994A>C (p.Met2332Leu) c.6811A>C (p.Met2271Leu) c.6532A>C (p.Met2178Leu) c.5575A>C (p.Met1859Leu) c.5566A>C (p.Met1856Leu)
5	g.37052495A>G	CA359511706	NIPBL	c.7192A>G (p.Met2398Val) n.1074A>G c.1-12083A>G (n.1-12083A>G) c.6448A>G (p.Met2150Val) c.6994A>G (p.Met2332Val) c.6811A>G (p.Met2271Val) c.6532A>G (p.Met2178Val) c.5575A>G (p.Met1859Val) c.5566A>G (p.Met1856Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5	g.37052495A>T	CA359511701	NIPBL	c.7192A>T (p.Met2398Leu) n.1074A>T c.1-12083A>T (n.1-12083A>T) c.6448A>T (p.Met2150Leu) c.6994A>T (p.Met2332Leu) c.6811A>T (p.Met2271Leu) c.6532A>T (p.Met2178Leu) c.5575A>T (p.Met1859Leu) c.5566A>T (p.Met1856Leu)
5	g.37052496T>A	CA359511709	NIPBL	c.7193T>A (p.Met2398Lys) n.1075T>A c.1-12082T>A (n.1-12082T>A) c.6449T>A (p.Met2150Lys) c.6995T>A (p.Met2332Lys) c.6812T>A (p.Met2271Lys) c.6533T>A (p.Met2178Lys) c.5576T>A (p.Met1859Lys) c.5567T>A (p.Met1856Lys)
5	g.37052496T>C	CA359511712	NIPBL	c.7193T>C (p.Met2398Thr) n.1075T>C c.1-12082T>C (n.1-12082T>C) c.6449T>C (p.Met2150Thr) c.6995T>C (p.Met2332Thr) c.6812T>C (p.Met2271Thr) c.6533T>C (p.Met2178Thr) c.5576T>C (p.Met1859Thr) c.5567T>C (p.Met1856Thr)
5	g.37052496T>G	CA359511716	NIPBL	c.7193T>G (p.Met2398Arg) n.1075T>G c.1-12082T>G (n.1-12082T>G) c.6449T>G (p.Met2150Arg) c.6995T>G (p.Met2332Arg) c.6812T>G (p.Met2271Arg) c.6533T>G (p.Met2178Arg) c.5576T>G (p.Met1859Arg) c.5567T>G (p.Met1856Arg)
5	g.37052497G>A	CA359511718	NIPBL	c.7194G>A (p.Met2398Ile) n.1076G>A c.1-12081G>A (n.1-12081G>A) c.6450G>A (p.Met2150Ile) c.6996G>A (p.Met2332Ile) c.6813G>A (p.Met2271Ile) c.6534G>A (p.Met2178Ile) c.5577G>A (p.Met1859Ile) c.5568G>A (p.Met1856Ile)	dbSNP gnomAD v2 gnomAD v4
5	g.37052497G>C	CA359511721	NIPBL	c.7194G>C (p.Met2398Ile) n.1076G>C c.1-12081G>C (n.1-12081G>C) c.6450G>C (p.Met2150Ile) c.6996G>C (p.Met2332Ile) c.6813G>C (p.Met2271Ile) c.6534G>C (p.Met2178Ile) c.5577G>C (p.Met1859Ile) c.5568G>C (p.Met1856Ile)
5	g.37052497G=	CA1539572332	NIPBL	c.7194G= (p.Met2398=) n.1076G= c.1-12081G= (n.1-12081G=) c.6450G= (p.Met2150=) c.6996G= (p.Met2332=) c.6813G= (p.Met2271=) c.6534G= (p.Met2178=) c.5577G= (p.Met1859=) c.5568G= (p.Met1856=)
5	g.37052497G>T	CA359511724	NIPBL	c.7194G>T (p.Met2398Ile) n.1076G>T c.1-12081G>T (n.1-12081G>T) c.6450G>T (p.Met2150Ile) c.6996G>T (p.Met2332Ile) c.6813G>T (p.Met2271Ile) c.6534G>T (p.Met2178Ile) c.5577G>T (p.Met1859Ile) c.5568G>T (p.Met1856Ile)
5	g.37052498A>C	CA359511726	NIPBL	c.7195A>C (p.Ile2399Leu) n.1077A>C c.1-12080A>C (n.1-12080A>C) c.6451A>C (p.Ile2151Leu) c.6997A>C (p.Ile2333Leu) c.6814A>C (p.Ile2272Leu) c.6535A>C (p.Ile2179Leu) c.5578A>C (p.Ile1860Leu) c.5569A>C (p.Ile1857Leu)
5	g.37052498A>G	CA359511729	NIPBL	c.7195A>G (p.Ile2399Val) n.1077A>G c.1-12080A>G (n.1-12080A>G) c.6451A>G (p.Ile2151Val) c.6997A>G (p.Ile2333Val) c.6814A>G (p.Ile2272Val) c.6535A>G (p.Ile2179Val) c.5578A>G (p.Ile1860Val) c.5569A>G (p.Ile1857Val)
5	g.37052498A>T	CA359511728	NIPBL	c.7195A>T (p.Ile2399Phe) n.1077A>T c.1-12080A>T (n.1-12080A>T) c.6451A>T (p.Ile2151Phe) c.6997A>T (p.Ile2333Phe) c.6814A>T (p.Ile2272Phe) c.6535A>T (p.Ile2179Phe) c.5578A>T (p.Ile1860Phe) c.5569A>T (p.Ile1857Phe)
5	g.37052499T>A	CA359511731	NIPBL	c.7196T>A (p.Ile2399Asn) n.1078T>A c.1-12079T>A (n.1-12079T>A) c.6452T>A (p.Ile2151Asn) c.6998T>A (p.Ile2333Asn) c.6815T>A (p.Ile2272Asn) c.6536T>A (p.Ile2179Asn) c.5579T>A (p.Ile1860Asn) c.5570T>A (p.Ile1857Asn)
5	g.37052499T>C	CA359511734	NIPBL	c.7196T>C (p.Ile2399Thr) n.1078T>C c.1-12079T>C (n.1-12079T>C) c.6452T>C (p.Ile2151Thr) c.6998T>C (p.Ile2333Thr) c.6815T>C (p.Ile2272Thr) c.6536T>C (p.Ile2179Thr) c.5579T>C (p.Ile1860Thr) c.5570T>C (p.Ile1857Thr)
5	g.37052499T>G	CA359511741	NIPBL	c.7196T>G (p.Ile2399Ser) n.1078T>G c.1-12079T>G (n.1-12079T>G) c.6452T>G (p.Ile2151Ser) c.6998T>G (p.Ile2333Ser) c.6815T>G (p.Ile2272Ser) c.6536T>G (p.Ile2179Ser) c.5579T>G (p.Ile1860Ser) c.5570T>G (p.Ile1857Ser)
5	g.37052499_37052500delinsTC	CA1539572334	NIPBL	c.7196_7197delinsTC (p.Ile2399=) n.1078_1079delinsTC c.1-12079_1-12078delinsTC (n.1-12079_1-12078delinsTC) c.6452_6453delinsTC (p.Ile2151=) c.6998_6999delinsTC (p.Ile2333=) c.6815_6816delinsTC (p.Ile2272=) c.6536_6537delinsTC (p.Ile2179=) c.5579_5580delinsTC (p.Ile1860=) c.5570_5571delinsTC (p.Ile1857=)
5	g.37052500C>A	CA443911907	NIPBL	c.7197C>A (p.Ile2399=) n.1079C>A c.1-12078C>A (n.1-12078C>A) c.6453C>A (p.Ile2151=) c.6999C>A (p.Ile2333=) c.6816C>A (p.Ile2272=) c.6537C>A (p.Ile2179=) c.5580C>A (p.Ile1860=) c.5571C>A (p.Ile1857=)
5	g.37052500C>G	CA359511743	NIPBL	c.7197C>G (p.Ile2399Met) n.1079C>G c.1-12078C>G (n.1-12078C>G) c.6453C>G (p.Ile2151Met) c.6999C>G (p.Ile2333Met) c.6816C>G (p.Ile2272Met) c.6537C>G (p.Ile2179Met) c.5580C>G (p.Ile1860Met) c.5571C>G (p.Ile1857Met)
5	g.37052500C>T	CA443911911	NIPBL	c.7197C>T (p.Ile2399=) n.1079C>T c.1-12078C>T (n.1-12078C>T) c.6453C>T (p.Ile2151=) c.6999C>T (p.Ile2333=) c.6816C>T (p.Ile2272=) c.6537C>T (p.Ile2179=) c.5580C>T (p.Ile1860=) c.5571C>T (p.Ile1857=)
5	g.37052501del	CA272294	NIPBL	c.7198del (p.Arg2400ValfsTer26) c.7198del (p.Arg2400ValfsTer25) n.1080del c.1-12077del (n.1-12077del) c.6454del (p.Arg2152ValfsTer26) c.7000del (p.Arg2334ValfsTer26) c.6817del (p.Arg2273ValfsTer26) c.7198del (p.Arg2400ValfsTer?) c.6538del (p.Arg2180ValfsTer26) c.5581del (p.Arg1861ValfsTer26) c.5572del (p.Arg1858ValfsTer26)	ClinVar dbSNP
5	g.37052501C>A	CA359511752	NIPBL	c.7198C>A (p.Arg2400Ser) n.1080C>A c.1-12077C>A (n.1-12077C>A) c.6454C>A (p.Arg2152Ser) c.7000C>A (p.Arg2334Ser) c.6817C>A (p.Arg2273Ser) c.6538C>A (p.Arg2180Ser) c.5581C>A (p.Arg1861Ser) c.5572C>A (p.Arg1858Ser)
5	g.37052501C>G	CA359511748	NIPBL	c.7198C>G (p.Arg2400Gly) n.1080C>G c.1-12077C>G (n.1-12077C>G) c.6454C>G (p.Arg2152Gly) c.7000C>G (p.Arg2334Gly) c.6817C>G (p.Arg2273Gly) c.6538C>G (p.Arg2180Gly) c.5581C>G (p.Arg1861Gly) c.5572C>G (p.Arg1858Gly)
5	g.37052501C>T	CA359511753	NIPBL	c.7198C>T (p.Arg2400Cys) n.1080C>T c.1-12077C>T (n.1-12077C>T) c.6454C>T (p.Arg2152Cys) c.7000C>T (p.Arg2334Cys) c.6817C>T (p.Arg2273Cys) c.6538C>T (p.Arg2180Cys) c.5581C>T (p.Arg1861Cys) c.5572C>T (p.Arg1858Cys)	ClinVar gnomAD v4
5	g.37052502del	CA2553303923	NIPBL	c.7199del (p.Arg2400LeufsTer26) c.7199del (p.Arg2400LeufsTer25) n.1081del c.1-12076del (n.1-12076del) c.6455del (p.Arg2152LeufsTer26) c.7001del (p.Arg2334LeufsTer26) c.6818del (p.Arg2273LeufsTer26) c.7199del (p.Arg2400LeufsTer?) c.6539del (p.Arg2180LeufsTer26) c.5582del (p.Arg1861LeufsTer26) c.5573del (p.Arg1858LeufsTer26)
5	g.37052502G>A	CA3237154	NIPBL	c.7199G>A (p.Arg2400His) n.1081G>A c.1-12076G>A (n.1-12076G>A) c.6455G>A (p.Arg2152His) c.7001G>A (p.Arg2334His) c.6818G>A (p.Arg2273His) c.6539G>A (p.Arg2180His) c.5582G>A (p.Arg1861His) c.5573G>A (p.Arg1858His)	dbSNP ExAC gnomAD v2 gnomAD v4
5	g.37052502G>C	CA359511754	NIPBL	c.7199G>C (p.Arg2400Pro) n.1081G>C c.1-12076G>C (n.1-12076G>C) c.6455G>C (p.Arg2152Pro) c.7001G>C (p.Arg2334Pro) c.6818G>C (p.Arg2273Pro) c.6539G>C (p.Arg2180Pro) c.5582G>C (p.Arg1861Pro) c.5573G>C (p.Arg1858Pro)	ClinVar dbSNP
5	g.37052502G=	CA1539572340	NIPBL	c.7199G= (p.Arg2400=) n.1081G= c.1-12076G= (n.1-12076G=) c.6455G= (p.Arg2152=) c.7001G= (p.Arg2334=) c.6818G= (p.Arg2273=) c.6539G= (p.Arg2180=) c.5582G= (p.Arg1861=) c.5573G= (p.Arg1858=)
5	g.37052502G>T	CA359511756	NIPBL	c.7199G>T (p.Arg2400Leu) n.1081G>T c.1-12076G>T (n.1-12076G>T) c.6455G>T (p.Arg2152Leu) c.7001G>T (p.Arg2334Leu) c.6818G>T (p.Arg2273Leu) c.6539G>T (p.Arg2180Leu) c.5582G>T (p.Arg1861Leu) c.5573G>T (p.Arg1858Leu)
5	g.37052503T>A	CA443911925	NIPBL	c.7200T>A (p.Arg2400=) n.1082T>A c.1-12075T>A (n.1-12075T>A) c.6456T>A (p.Arg2152=) c.7002T>A (p.Arg2334=) c.6819T>A (p.Arg2273=) c.6540T>A (p.Arg2180=) c.5583T>A (p.Arg1861=) c.5574T>A (p.Arg1858=)
5	g.37052503T>C	CA443911926	NIPBL	c.7200T>C (p.Arg2400=) n.1082T>C c.1-12075T>C (n.1-12075T>C) c.6456T>C (p.Arg2152=) c.7002T>C (p.Arg2334=) c.6819T>C (p.Arg2273=) c.6540T>C (p.Arg2180=) c.5583T>C (p.Arg1861=) c.5574T>C (p.Arg1858=)
5	g.37052503T>G	CA443911928	NIPBL	c.7200T>G (p.Arg2400=) n.1082T>G c.1-12075T>G (n.1-12075T>G) c.6456T>G (p.Arg2152=) c.7002T>G (p.Arg2334=) c.6819T>G (p.Arg2273=) c.6540T>G (p.Arg2180=) c.5583T>G (p.Arg1861=) c.5574T>G (p.Arg1858=)
5	g.37052504G>A	CA359511760	NIPBL	c.7201G>A (p.Gly2401Arg) n.1083G>A c.1-12074G>A (n.1-12074G>A) c.6457G>A (p.Gly2153Arg) c.7003G>A (p.Gly2335Arg) c.6820G>A (p.Gly2274Arg) c.6541G>A (p.Gly2181Arg) c.5584G>A (p.Gly1862Arg) c.5575G>A (p.Gly1859Arg)
5	g.37052504G>C	CA359511761	NIPBL	c.7201G>C (p.Gly2401Arg) n.1083G>C c.1-12074G>C (n.1-12074G>C) c.6457G>C (p.Gly2153Arg) c.7003G>C (p.Gly2335Arg) c.6820G>C (p.Gly2274Arg) c.6541G>C (p.Gly2181Arg) c.5584G>C (p.Gly1862Arg) c.5575G>C (p.Gly1859Arg)
5	g.37052504G>T	CA359511762	NIPBL	c.7201G>T (p.Gly2401Ter) n.1083G>T c.1-12074G>T (n.1-12074G>T) c.6457G>T (p.Gly2153Ter) c.7003G>T (p.Gly2335Ter) c.6820G>T (p.Gly2274Ter) c.6541G>T (p.Gly2181Ter) c.5584G>T (p.Gly1862Ter) c.5575G>T (p.Gly1859Ter)	COSMIC COSMIC
5	g.37052505G>A	CA117051549	NIPBL	c.7202G>A (p.Gly2401Glu) n.1084G>A c.1-12073G>A (n.1-12073G>A) c.6458G>A (p.Gly2153Glu) c.7004G>A (p.Gly2335Glu) c.6821G>A (p.Gly2274Glu) c.6542G>A (p.Gly2181Glu) c.5585G>A (p.Gly1862Glu) c.5576G>A (p.Gly1859Glu)	dbSNP
5	g.37052505G>C	CA359511765	NIPBL	c.7202G>C (p.Gly2401Ala) n.1084G>C c.1-12073G>C (n.1-12073G>C) c.6458G>C (p.Gly2153Ala) c.7004G>C (p.Gly2335Ala) c.6821G>C (p.Gly2274Ala) c.6542G>C (p.Gly2181Ala) c.5585G>C (p.Gly1862Ala) c.5576G>C (p.Gly1859Ala)
5	g.37052505G=	CA1539572342	NIPBL	c.7202G= (p.Gly2401=) n.1084G= c.1-12073G= (n.1-12073G=) c.6458G= (p.Gly2153=) c.7004G= (p.Gly2335=) c.6821G= (p.Gly2274=) c.6542G= (p.Gly2181=) c.5585G= (p.Gly1862=) c.5576G= (p.Gly1859=)
5	g.37052505G>T	CA359511767	NIPBL	c.7202G>T (p.Gly2401Val) n.1084G>T c.1-12073G>T (n.1-12073G>T) c.6458G>T (p.Gly2153Val) c.7004G>T (p.Gly2335Val) c.6821G>T (p.Gly2274Val) c.6542G>T (p.Gly2181Val) c.5585G>T (p.Gly1862Val) c.5576G>T (p.Gly1859Val)
5	g.37052506A>C	CA443911939	NIPBL	c.7203A>C (p.Gly2401=) n.1085A>C c.1-12072A>C (n.1-12072A>C) c.6459A>C (p.Gly2153=) c.7005A>C (p.Gly2335=) c.6822A>C (p.Gly2274=) c.6543A>C (p.Gly2181=) c.5586A>C (p.Gly1862=) c.5577A>C (p.Gly1859=)
5	g.37052506A>G	CA443911942	NIPBL	c.7203A>G (p.Gly2401=) n.1085A>G c.1-12072A>G (n.1-12072A>G) c.6459A>G (p.Gly2153=) c.7005A>G (p.Gly2335=) c.6822A>G (p.Gly2274=) c.6543A>G (p.Gly2181=) c.5586A>G (p.Gly1862=) c.5577A>G (p.Gly1859=)
5	g.37052506A>T	CA443911944	NIPBL	c.7203A>T (p.Gly2401=) n.1085A>T c.1-12072A>T (n.1-12072A>T) c.6459A>T (p.Gly2153=) c.7005A>T (p.Gly2335=) c.6822A>T (p.Gly2274=) c.6543A>T (p.Gly2181=) c.5586A>T (p.Gly1862=) c.5577A>T (p.Gly1859=)
5	g.37052506_37052510del	CA2566938241	NIPBL	c.7203_7207del (p.Asn2402ProfsTer15) n.1085_1089del c.1-12072_1-12068del (n.1-12072_1-12068del) c.6459_6463del (p.Asn2154ProfsTer15) c.7005_7009del (p.Asn2336ProfsTer15) c.6822_6826del (p.Asn2275ProfsTer15) c.6543_6547del (p.Asn2182ProfsTer15) c.5586_5590del (p.Asn1863ProfsTer15) c.5577_5581del (p.Asn1860ProfsTer15)

Number of alleles fetched