Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
5 | g.37052507A= | CA1539572346 | NIPBL | c.7204A= (p.Asn2402=) n.1086A= c.1-12071A= (n.1-12071A=) c.6460A= (p.Asn2154=) c.7006A= (p.Asn2336=) c.6823A= (p.Asn2275=) c.6544A= (p.Asn2182=) c.5587A= (p.Asn1863=) c.5578A= (p.Asn1860=) | |
5 | g.37052507A>C | CA117051555 | NIPBL | c.7204A>C (p.Asn2402His) n.1086A>C c.1-12071A>C (n.1-12071A>C) c.6460A>C (p.Asn2154His) c.7006A>C (p.Asn2336His) c.6823A>C (p.Asn2275His) c.6544A>C (p.Asn2182His) c.5587A>C (p.Asn1863His) c.5578A>C (p.Asn1860His) | dbSNP gnomAD v4 |
5 | g.37052507A>G | CA359511768 | NIPBL | c.7204A>G (p.Asn2402Asp) n.1086A>G c.1-12071A>G (n.1-12071A>G) c.6460A>G (p.Asn2154Asp) c.7006A>G (p.Asn2336Asp) c.6823A>G (p.Asn2275Asp) c.6544A>G (p.Asn2182Asp) c.5587A>G (p.Asn1863Asp) c.5578A>G (p.Asn1860Asp) | |
5 | g.37052507A>T | CA359511771 | NIPBL | c.7204A>T (p.Asn2402Tyr) n.1086A>T c.1-12071A>T (n.1-12071A>T) c.6460A>T (p.Asn2154Tyr) c.7006A>T (p.Asn2336Tyr) c.6823A>T (p.Asn2275Tyr) c.6544A>T (p.Asn2182Tyr) c.5587A>T (p.Asn1863Tyr) c.5578A>T (p.Asn1860Tyr) | |
5 | g.37052508A= | CA1539572352 | NIPBL | c.7205A= (p.Asn2402=) n.1087A= c.1-12070A= (n.1-12070A=) c.6461A= (p.Asn2154=) c.7007A= (p.Asn2336=) c.6824A= (p.Asn2275=) c.6545A= (p.Asn2182=) c.5588A= (p.Asn1863=) c.5579A= (p.Asn1860=) | |
5 | g.37052508A>C | CA359511780 | NIPBL | c.7205A>C (p.Asn2402Thr) n.1087A>C c.1-12070A>C (n.1-12070A>C) c.6461A>C (p.Asn2154Thr) c.7007A>C (p.Asn2336Thr) c.6824A>C (p.Asn2275Thr) c.6545A>C (p.Asn2182Thr) c.5588A>C (p.Asn1863Thr) c.5579A>C (p.Asn1860Thr) | dbSNP |
5 | g.37052508A>G | CA359511779 | NIPBL | c.7205A>G (p.Asn2402Ser) n.1087A>G c.1-12070A>G (n.1-12070A>G) c.6461A>G (p.Asn2154Ser) c.7007A>G (p.Asn2336Ser) c.6824A>G (p.Asn2275Ser) c.6545A>G (p.Asn2182Ser) c.5588A>G (p.Asn1863Ser) c.5579A>G (p.Asn1860Ser) | gnomAD v4 |
5 | g.37052508A>T | CA359511777 | NIPBL | c.7205A>T (p.Asn2402Ile) n.1087A>T c.1-12070A>T (n.1-12070A>T) c.6461A>T (p.Asn2154Ile) c.7007A>T (p.Asn2336Ile) c.6824A>T (p.Asn2275Ile) c.6545A>T (p.Asn2182Ile) c.5588A>T (p.Asn1863Ile) c.5579A>T (p.Asn1860Ile) | |
5 | g.37052509C>A | CA359511788 | NIPBL | c.7206C>A (p.Asn2402Lys) n.1088C>A c.1-12069C>A (n.1-12069C>A) c.6462C>A (p.Asn2154Lys) c.7008C>A (p.Asn2336Lys) c.6825C>A (p.Asn2275Lys) c.6546C>A (p.Asn2182Lys) c.5589C>A (p.Asn1863Lys) c.5580C>A (p.Asn1860Lys) | |
5 | g.37052509C>G | CA359511790 | NIPBL | c.7206C>G (p.Asn2402Lys) n.1088C>G c.1-12069C>G (n.1-12069C>G) c.6462C>G (p.Asn2154Lys) c.7008C>G (p.Asn2336Lys) c.6825C>G (p.Asn2275Lys) c.6546C>G (p.Asn2182Lys) c.5589C>G (p.Asn1863Lys) c.5580C>G (p.Asn1860Lys) | |
5 | g.37052509C>T | CA443911963 | NIPBL | c.7206C>T (p.Asn2402=) n.1088C>T c.1-12069C>T (n.1-12069C>T) c.6462C>T (p.Asn2154=) c.7008C>T (p.Asn2336=) c.6825C>T (p.Asn2275=) c.6546C>T (p.Asn2182=) c.5589C>T (p.Asn1863=) c.5580C>T (p.Asn1860=) | |
5 | g.37052510dup | CA117051557 | NIPBL | c.7207dup (p.Arg2403ProfsTer16) n.1089dup c.1-12068dup (n.1-12068dup) c.6463dup (p.Arg2155ProfsTer16) c.7009dup (p.Arg2337ProfsTer16) c.6826dup (p.Arg2276ProfsTer16) c.6547dup (p.Arg2183ProfsTer16) c.5590dup (p.Arg1864ProfsTer16) c.5581dup (p.Arg1861ProfsTer16) | dbSNP |
5 | g.37052510C>A | CA359511792 | NIPBL | c.7207C>A (p.Arg2403Ser) n.1089C>A c.1-12068C>A (n.1-12068C>A) c.6463C>A (p.Arg2155Ser) c.7009C>A (p.Arg2337Ser) c.6826C>A (p.Arg2276Ser) c.6547C>A (p.Arg2183Ser) c.5590C>A (p.Arg1864Ser) c.5581C>A (p.Arg1861Ser) | |
5 | g.37052510C>G | CA359511794 | NIPBL | c.7207C>G (p.Arg2403Gly) n.1089C>G c.1-12068C>G (n.1-12068C>G) c.6463C>G (p.Arg2155Gly) c.7009C>G (p.Arg2337Gly) c.6826C>G (p.Arg2276Gly) c.6547C>G (p.Arg2183Gly) c.5590C>G (p.Arg1864Gly) c.5581C>G (p.Arg1861Gly) | |
5 | g.37052510C>T | CA359511796 | NIPBL | c.7207C>T (p.Arg2403Cys) n.1089C>T c.1-12068C>T (n.1-12068C>T) c.6463C>T (p.Arg2155Cys) c.7009C>T (p.Arg2337Cys) c.6826C>T (p.Arg2276Cys) c.6547C>T (p.Arg2183Cys) c.5590C>T (p.Arg1864Cys) c.5581C>T (p.Arg1861Cys) | gnomAD v4 |
5 | g.37052511G>A | CA359511798 | NIPBL | c.7208G>A (p.Arg2403His) n.1090G>A c.1-12067G>A (n.1-12067G>A) c.6464G>A (p.Arg2155His) c.7010G>A (p.Arg2337His) c.6827G>A (p.Arg2276His) c.6548G>A (p.Arg2183His) c.5591G>A (p.Arg1864His) c.5582G>A (p.Arg1861His) | ClinVar gnomAD v4 COSMIC COSMIC |
5 | g.37052511G>C | CA359511800 | NIPBL | c.7208G>C (p.Arg2403Pro) n.1090G>C c.1-12067G>C (n.1-12067G>C) c.6464G>C (p.Arg2155Pro) c.7010G>C (p.Arg2337Pro) c.6827G>C (p.Arg2276Pro) c.6548G>C (p.Arg2183Pro) c.5591G>C (p.Arg1864Pro) c.5582G>C (p.Arg1861Pro) | |
5 | g.37052511G>T | CA359511801 | NIPBL | c.7208G>T (p.Arg2403Leu) n.1090G>T c.1-12067G>T (n.1-12067G>T) c.6464G>T (p.Arg2155Leu) c.7010G>T (p.Arg2337Leu) c.6827G>T (p.Arg2276Leu) c.6548G>T (p.Arg2183Leu) c.5591G>T (p.Arg1864Leu) c.5582G>T (p.Arg1861Leu) | |
5 | g.37052512C>A | CA443911976 | NIPBL | c.7209C>A (p.Arg2403=) n.1091C>A c.1-12066C>A (n.1-12066C>A) c.6465C>A (p.Arg2155=) c.7011C>A (p.Arg2337=) c.6828C>A (p.Arg2276=) c.6549C>A (p.Arg2183=) c.5592C>A (p.Arg1864=) c.5583C>A (p.Arg1861=) | |
5 | g.37052512C= | CA1539572359 | NIPBL | c.7209C= (p.Arg2403=) n.1091C= c.1-12066C= (n.1-12066C=) c.6465C= (p.Arg2155=) c.7011C= (p.Arg2337=) c.6828C= (p.Arg2276=) c.6549C= (p.Arg2183=) c.5592C= (p.Arg1864=) c.5583C= (p.Arg1861=) | |
5 | g.37052512C>G | CA443911977 | NIPBL | c.7209C>G (p.Arg2403=) n.1091C>G c.1-12066C>G (n.1-12066C>G) c.6465C>G (p.Arg2155=) c.7011C>G (p.Arg2337=) c.6828C>G (p.Arg2276=) c.6549C>G (p.Arg2183=) c.5592C>G (p.Arg1864=) c.5583C>G (p.Arg1861=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37052512C>T | CA443911979 | NIPBL | c.7209C>T (p.Arg2403=) n.1091C>T c.1-12066C>T (n.1-12066C>T) c.6465C>T (p.Arg2155=) c.7011C>T (p.Arg2337=) c.6828C>T (p.Arg2276=) c.6549C>T (p.Arg2183=) c.5592C>T (p.Arg1864=) c.5583C>T (p.Arg1861=) | |
5 | g.37052513del | CA2695204434 | NIPBL | c.7210del (p.Gln2404AsnfsTer22) c.7210del (p.Gln2404AsnfsTer21) n.1092del c.1-12065del (n.1-12065del) c.6466del (p.Gln2156AsnfsTer22) c.7012del (p.Gln2338AsnfsTer22) c.6829del (p.Gln2277AsnfsTer22) c.7210del (p.Gln2404AsnfsTer?) c.6550del (p.Gln2184AsnfsTer22) c.5593del (p.Gln1865AsnfsTer22) c.5584del (p.Gln1862AsnfsTer22) | |
5 | g.37052513C>A | CA359511804 | NIPBL | c.7210C>A (p.Gln2404Lys) n.1092C>A c.1-12065C>A (n.1-12065C>A) c.6466C>A (p.Gln2156Lys) c.7012C>A (p.Gln2338Lys) c.6829C>A (p.Gln2277Lys) c.6550C>A (p.Gln2184Lys) c.5593C>A (p.Gln1865Lys) c.5584C>A (p.Gln1862Lys) | |
5 | g.37052513C>G | CA359511806 | NIPBL | c.7210C>G (p.Gln2404Glu) n.1092C>G c.1-12065C>G (n.1-12065C>G) c.6466C>G (p.Gln2156Glu) c.7012C>G (p.Gln2338Glu) c.6829C>G (p.Gln2277Glu) c.6550C>G (p.Gln2184Glu) c.5593C>G (p.Gln1865Glu) c.5584C>G (p.Gln1862Glu) | |
5 | g.37052513C>T | CA359511808 | NIPBL | c.7210C>T (p.Gln2404Ter) n.1092C>T c.1-12065C>T (n.1-12065C>T) c.6466C>T (p.Gln2156Ter) c.7012C>T (p.Gln2338Ter) c.6829C>T (p.Gln2277Ter) c.6550C>T (p.Gln2184Ter) c.5593C>T (p.Gln1865Ter) c.5584C>T (p.Gln1862Ter) | |
5 | g.37052514A= | CA1539572362 | NIPBL | c.7211A= (p.Gln2404=) n.1093A= c.1-12064A= (n.1-12064A=) c.6467A= (p.Gln2156=) c.7013A= (p.Gln2338=) c.6830A= (p.Gln2277=) c.6551A= (p.Gln2184=) c.5594A= (p.Gln1865=) c.5585A= (p.Gln1862=) | |
5 | g.37052514A>C | CA359511813 | NIPBL | c.7211A>C (p.Gln2404Pro) n.1093A>C c.1-12064A>C (n.1-12064A>C) c.6467A>C (p.Gln2156Pro) c.7013A>C (p.Gln2338Pro) c.6830A>C (p.Gln2277Pro) c.6551A>C (p.Gln2184Pro) c.5594A>C (p.Gln1865Pro) c.5585A>C (p.Gln1862Pro) | |
5 | g.37052514A>G | CA359511820 | NIPBL | c.7211A>G (p.Gln2404Arg) n.1093A>G c.1-12064A>G (n.1-12064A>G) c.6467A>G (p.Gln2156Arg) c.7013A>G (p.Gln2338Arg) c.6830A>G (p.Gln2277Arg) c.6551A>G (p.Gln2184Arg) c.5594A>G (p.Gln1865Arg) c.5585A>G (p.Gln1862Arg) | dbSNP |
5 | g.37052514A>T | CA359511810 | NIPBL | c.7211A>T (p.Gln2404Leu) n.1093A>T c.1-12064A>T (n.1-12064A>T) c.6467A>T (p.Gln2156Leu) c.7013A>T (p.Gln2338Leu) c.6830A>T (p.Gln2277Leu) c.6551A>T (p.Gln2184Leu) c.5594A>T (p.Gln1865Leu) c.5585A>T (p.Gln1862Leu) | |
5 | g.37052515del | CA2514577429 | NIPBL | c.7212del (p.Gln2404HisfsTer22) c.7212del (p.Gln2404HisfsTer21) n.1094del c.1-12063del (n.1-12063del) c.6468del (p.Gln2156HisfsTer22) c.7014del (p.Gln2338HisfsTer22) c.6831del (p.Gln2277HisfsTer22) c.7212del (p.Gln2404HisfsTer?) c.6552del (p.Gln2184HisfsTer22) c.5595del (p.Gln1865HisfsTer22) c.5586del (p.Gln1862HisfsTer22) | |
5 | g.37052515A= | CA1539572364 | NIPBL | c.7212A= (p.Gln2404=) n.1094A= c.1-12063A= (n.1-12063A=) c.6468A= (p.Gln2156=) c.7014A= (p.Gln2338=) c.6831A= (p.Gln2277=) c.6552A= (p.Gln2184=) c.5595A= (p.Gln1865=) c.5586A= (p.Gln1862=) | |
5 | g.37052515A>C | CA359511824 | NIPBL | c.7212A>C (p.Gln2404His) n.1094A>C c.1-12063A>C (n.1-12063A>C) c.6468A>C (p.Gln2156His) c.7014A>C (p.Gln2338His) c.6831A>C (p.Gln2277His) c.6552A>C (p.Gln2184His) c.5595A>C (p.Gln1865His) c.5586A>C (p.Gln1862His) | |
5 | g.37052515A>G | CA3237155 | NIPBL | c.7212A>G (p.Gln2404=) n.1094A>G c.1-12063A>G (n.1-12063A>G) c.6468A>G (p.Gln2156=) c.7014A>G (p.Gln2338=) c.6831A>G (p.Gln2277=) c.6552A>G (p.Gln2184=) c.5595A>G (p.Gln1865=) c.5586A>G (p.Gln1862=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.37052515A>T | CA359511829 | NIPBL | c.7212A>T (p.Gln2404His) n.1094A>T c.1-12063A>T (n.1-12063A>T) c.6468A>T (p.Gln2156His) c.7014A>T (p.Gln2338His) c.6831A>T (p.Gln2277His) c.6552A>T (p.Gln2184His) c.5595A>T (p.Gln1865His) c.5586A>T (p.Gln1862His) | |
5 | g.37052516C>A | CA359511831 | NIPBL | c.7213C>A (p.His2405Asn) n.1095C>A c.1-12062C>A (n.1-12062C>A) c.6469C>A (p.His2157Asn) c.7015C>A (p.His2339Asn) c.6832C>A (p.His2278Asn) c.6553C>A (p.His2185Asn) c.5596C>A (p.His1866Asn) c.5587C>A (p.His1863Asn) | |
5 | g.37052516C>G | CA359511832 | NIPBL | c.7213C>G (p.His2405Asp) n.1095C>G c.1-12062C>G (n.1-12062C>G) c.6469C>G (p.His2157Asp) c.7015C>G (p.His2339Asp) c.6832C>G (p.His2278Asp) c.6553C>G (p.His2185Asp) c.5596C>G (p.His1866Asp) c.5587C>G (p.His1863Asp) | |
5 | g.37052516C>T | CA359511839 | NIPBL | c.7213C>T (p.His2405Tyr) n.1095C>T c.1-12062C>T (n.1-12062C>T) c.6469C>T (p.His2157Tyr) c.7015C>T (p.His2339Tyr) c.6832C>T (p.His2278Tyr) c.6553C>T (p.His2185Tyr) c.5596C>T (p.His1866Tyr) c.5587C>T (p.His1863Tyr) | |
5 | g.37052517A>C | CA359511844 | NIPBL | c.7214A>C (p.His2405Pro) n.1096A>C c.1-12061A>C (n.1-12061A>C) c.6470A>C (p.His2157Pro) c.7016A>C (p.His2339Pro) c.6833A>C (p.His2278Pro) c.6554A>C (p.His2185Pro) c.5597A>C (p.His1866Pro) c.5588A>C (p.His1863Pro) | |
5 | g.37052517A>G | CA359511846 | NIPBL | c.7214A>G (p.His2405Arg) n.1096A>G c.1-12061A>G (n.1-12061A>G) c.6470A>G (p.His2157Arg) c.7016A>G (p.His2339Arg) c.6833A>G (p.His2278Arg) c.6554A>G (p.His2185Arg) c.5597A>G (p.His1866Arg) c.5588A>G (p.His1863Arg) | |
5 | g.37052517A>T | CA359511848 | NIPBL | c.7214A>T (p.His2405Leu) n.1096A>T c.1-12061A>T (n.1-12061A>T) c.6470A>T (p.His2157Leu) c.7016A>T (p.His2339Leu) c.6833A>T (p.His2278Leu) c.6554A>T (p.His2185Leu) c.5597A>T (p.His1866Leu) c.5588A>T (p.His1863Leu) | |
5 | g.37052518C>A | CA359511851 | NIPBL | c.7215C>A (p.His2405Gln) n.1097C>A c.1-12060C>A (n.1-12060C>A) c.6471C>A (p.His2157Gln) c.7017C>A (p.His2339Gln) c.6834C>A (p.His2278Gln) c.6555C>A (p.His2185Gln) c.5598C>A (p.His1866Gln) c.5589C>A (p.His1863Gln) | |
5 | g.37052518C>G | CA359511853 | NIPBL | c.7215C>G (p.His2405Gln) n.1097C>G c.1-12060C>G (n.1-12060C>G) c.6471C>G (p.His2157Gln) c.7017C>G (p.His2339Gln) c.6834C>G (p.His2278Gln) c.6555C>G (p.His2185Gln) c.5598C>G (p.His1866Gln) c.5589C>G (p.His1863Gln) | |
5 | g.37052518C>T | CA443912006 | NIPBL | c.7215C>T (p.His2405=) n.1097C>T c.1-12060C>T (n.1-12060C>T) c.6471C>T (p.His2157=) c.7017C>T (p.His2339=) c.6834C>T (p.His2278=) c.6555C>T (p.His2185=) c.5598C>T (p.His1866=) c.5589C>T (p.His1863=) | |
5 | g.37052518_37052527del | CA2510322677 | NIPBL | c.7215_7224del (p.Arg2406PhefsTer17) c.7215_7224del (p.Arg2406PhefsTer16) n.1097_1106del c.1-12060_1-12051del (n.1-12060_1-12051del) c.6471_6480del (p.Arg2158PhefsTer17) c.7017_7026del (p.Arg2340PhefsTer17) c.6834_6843del (p.Arg2279PhefsTer17) c.7215_7224del (p.Arg2406PhefsTer?) c.6555_6564del (p.Arg2186PhefsTer17) c.5598_5607del (p.Arg1867PhefsTer17) c.5589_5598del (p.Arg1864PhefsTer17) | |
5 | g.37052519A>C | CA443912011 | NIPBL | c.7216A>C (p.Arg2406=) n.1098A>C c.1-12059A>C (n.1-12059A>C) c.6472A>C (p.Arg2158=) c.7018A>C (p.Arg2340=) c.6835A>C (p.Arg2279=) c.6556A>C (p.Arg2186=) c.5599A>C (p.Arg1867=) c.5590A>C (p.Arg1864=) | |
5 | g.37052519A>G | CA359511856 | NIPBL | c.7216A>G (p.Arg2406Gly) n.1098A>G c.1-12059A>G (n.1-12059A>G) c.6472A>G (p.Arg2158Gly) c.7018A>G (p.Arg2340Gly) c.6835A>G (p.Arg2279Gly) c.6556A>G (p.Arg2186Gly) c.5599A>G (p.Arg1867Gly) c.5590A>G (p.Arg1864Gly) | |
5 | g.37052519A>T | CA359511859 | NIPBL | c.7216A>T (p.Arg2406Ter) n.1098A>T c.1-12059A>T (n.1-12059A>T) c.6472A>T (p.Arg2158Ter) c.7018A>T (p.Arg2340Ter) c.6835A>T (p.Arg2279Ter) c.6556A>T (p.Arg2186Ter) c.5599A>T (p.Arg1867Ter) c.5590A>T (p.Arg1864Ter) | |
5 | g.37052520G>A | CA359511867 | NIPBL | c.7217G>A (p.Arg2406Lys) n.1099G>A c.1-12058G>A (n.1-12058G>A) c.6473G>A (p.Arg2158Lys) c.7019G>A (p.Arg2340Lys) c.6836G>A (p.Arg2279Lys) c.6557G>A (p.Arg2186Lys) c.5600G>A (p.Arg1867Lys) c.5591G>A (p.Arg1864Lys) | |
5 | g.37052520G>C | CA359511864 | NIPBL | c.7217G>C (p.Arg2406Thr) n.1099G>C c.1-12058G>C (n.1-12058G>C) c.6473G>C (p.Arg2158Thr) c.7019G>C (p.Arg2340Thr) c.6836G>C (p.Arg2279Thr) c.6557G>C (p.Arg2186Thr) c.5600G>C (p.Arg1867Thr) c.5591G>C (p.Arg1864Thr) | |
5 | g.37052520G>T | CA359511861 | NIPBL | c.7217G>T (p.Arg2406Ile) n.1099G>T c.1-12058G>T (n.1-12058G>T) c.6473G>T (p.Arg2158Ile) c.7019G>T (p.Arg2340Ile) c.6836G>T (p.Arg2279Ile) c.6557G>T (p.Arg2186Ile) c.5600G>T (p.Arg1867Ile) c.5591G>T (p.Arg1864Ile) | |
5 | g.37052521A= | CA1539572368 | NIPBL | c.7218A= (p.Arg2406=) n.1100A= c.1-12057A= (n.1-12057A=) c.6474A= (p.Arg2158=) c.7020A= (p.Arg2340=) c.6837A= (p.Arg2279=) c.6558A= (p.Arg2186=) c.5601A= (p.Arg1867=) c.5592A= (p.Arg1864=) | |
5 | g.37052521A>C | CA359511874 | NIPBL | c.7218A>C (p.Arg2406Ser) n.1100A>C c.1-12057A>C (n.1-12057A>C) c.6474A>C (p.Arg2158Ser) c.7020A>C (p.Arg2340Ser) c.6837A>C (p.Arg2279Ser) c.6558A>C (p.Arg2186Ser) c.5601A>C (p.Arg1867Ser) c.5592A>C (p.Arg1864Ser) | |
5 | g.37052521A>G | CA443912023 | NIPBL | c.7218A>G (p.Arg2406=) n.1100A>G c.1-12057A>G (n.1-12057A>G) c.6474A>G (p.Arg2158=) c.7020A>G (p.Arg2340=) c.6837A>G (p.Arg2279=) c.6558A>G (p.Arg2186=) c.5601A>G (p.Arg1867=) c.5592A>G (p.Arg1864=) | ClinVar dbSNP |
5 | g.37052521A>T | CA359511877 | NIPBL | c.7218A>T (p.Arg2406Ser) n.1100A>T c.1-12057A>T (n.1-12057A>T) c.6474A>T (p.Arg2158Ser) c.7020A>T (p.Arg2340Ser) c.6837A>T (p.Arg2279Ser) c.6558A>T (p.Arg2186Ser) c.5601A>T (p.Arg1867Ser) c.5592A>T (p.Arg1864Ser) | |
5 | g.37052522C>A | CA443912027 | NIPBL | c.7219C>A (p.Arg2407=) n.1101C>A c.1-12056C>A (n.1-12056C>A) c.6475C>A (p.Arg2159=) c.7021C>A (p.Arg2341=) c.6838C>A (p.Arg2280=) c.6559C>A (p.Arg2187=) c.5602C>A (p.Arg1868=) c.5593C>A (p.Arg1865=) | |
5 | g.37052522C= | CA1539572375 | NIPBL | c.7219C= (p.Arg2407=) n.1101C= c.1-12056C= (n.1-12056C=) c.6475C= (p.Arg2159=) c.7021C= (p.Arg2341=) c.6838C= (p.Arg2280=) c.6559C= (p.Arg2187=) c.5602C= (p.Arg1868=) c.5593C= (p.Arg1865=) | |
5 | g.37052522C>G | CA359511880 | NIPBL | c.7219C>G (p.Arg2407Gly) n.1101C>G c.1-12056C>G (n.1-12056C>G) c.6475C>G (p.Arg2159Gly) c.7021C>G (p.Arg2341Gly) c.6838C>G (p.Arg2280Gly) c.6559C>G (p.Arg2187Gly) c.5602C>G (p.Arg1868Gly) c.5593C>G (p.Arg1865Gly) | |
5 | g.37052522C>T | CA224038 | NIPBL | c.7219C>T (p.Arg2407Ter) n.1101C>T c.1-12056C>T (n.1-12056C>T) c.6475C>T (p.Arg2159Ter) c.7021C>T (p.Arg2341Ter) c.6838C>T (p.Arg2280Ter) c.6559C>T (p.Arg2187Ter) c.5602C>T (p.Arg1868Ter) c.5593C>T (p.Arg1865Ter) | ClinVar dbSNP COSMIC COSMIC |
5 | g.37052523G>A | CA359511882 | NIPBL | c.7220G>A (p.Arg2407Gln) n.1102G>A c.1-12055G>A (n.1-12055G>A) c.6476G>A (p.Arg2159Gln) c.7022G>A (p.Arg2341Gln) c.6839G>A (p.Arg2280Gln) c.6560G>A (p.Arg2187Gln) c.5603G>A (p.Arg1868Gln) c.5594G>A (p.Arg1865Gln) | ClinVar dbSNP COSMIC COSMIC |
5 | g.37052523G>C | CA359511887 | NIPBL | c.7220G>C (p.Arg2407Pro) n.1102G>C c.1-12055G>C (n.1-12055G>C) c.6476G>C (p.Arg2159Pro) c.7022G>C (p.Arg2341Pro) c.6839G>C (p.Arg2280Pro) c.6560G>C (p.Arg2187Pro) c.5603G>C (p.Arg1868Pro) c.5594G>C (p.Arg1865Pro) | |
5 | g.37052523G= | CA1539572382 | NIPBL | c.7220G= (p.Arg2407=) n.1102G= c.1-12055G= (n.1-12055G=) c.6476G= (p.Arg2159=) c.7022G= (p.Arg2341=) c.6839G= (p.Arg2280=) c.6560G= (p.Arg2187=) c.5603G= (p.Arg1868=) c.5594G= (p.Arg1865=) | |
5 | g.37052523G>T | CA359511892 | NIPBL | c.7220G>T (p.Arg2407Leu) n.1102G>T c.1-12055G>T (n.1-12055G>T) c.6476G>T (p.Arg2159Leu) c.7022G>T (p.Arg2341Leu) c.6839G>T (p.Arg2280Leu) c.6560G>T (p.Arg2187Leu) c.5603G>T (p.Arg1868Leu) c.5594G>T (p.Arg1865Leu) | |
5 | g.37052524A= | CA1539572385 | NIPBL | c.7221A= (p.Arg2407=) n.1103A= c.1-12054A= (n.1-12054A=) c.6477A= (p.Arg2159=) c.7023A= (p.Arg2341=) c.6840A= (p.Arg2280=) c.6561A= (p.Arg2187=) c.5604A= (p.Arg1868=) c.5595A= (p.Arg1865=) | |
5 | g.37052524A>C | CA443912038 | NIPBL | c.7221A>C (p.Arg2407=) n.1103A>C c.1-12054A>C (n.1-12054A>C) c.6477A>C (p.Arg2159=) c.7023A>C (p.Arg2341=) c.6840A>C (p.Arg2280=) c.6561A>C (p.Arg2187=) c.5604A>C (p.Arg1868=) c.5595A>C (p.Arg1865=) | dbSNP |
5 | g.37052524A>G | CA443912040 | NIPBL | c.7221A>G (p.Arg2407=) n.1103A>G c.1-12054A>G (n.1-12054A>G) c.6477A>G (p.Arg2159=) c.7023A>G (p.Arg2341=) c.6840A>G (p.Arg2280=) c.6561A>G (p.Arg2187=) c.5604A>G (p.Arg1868=) c.5595A>G (p.Arg1865=) | |
5 | g.37052524A>T | CA443912042 | NIPBL | c.7221A>T (p.Arg2407=) n.1103A>T c.1-12054A>T (n.1-12054A>T) c.6477A>T (p.Arg2159=) c.7023A>T (p.Arg2341=) c.6840A>T (p.Arg2280=) c.6561A>T (p.Arg2187=) c.5604A>T (p.Arg1868=) c.5595A>T (p.Arg1865=) | |
5 | g.37052525G>A | CA359511894 | NIPBL | c.7222G>A (p.Ala2408Thr) n.1104G>A c.1-12053G>A (n.1-12053G>A) c.6478G>A (p.Ala2160Thr) c.7024G>A (p.Ala2342Thr) c.6841G>A (p.Ala2281Thr) c.6562G>A (p.Ala2188Thr) c.5605G>A (p.Ala1869Thr) c.5596G>A (p.Ala1866Thr) | |
5 | g.37052525G>C | CA359511896 | NIPBL | c.7222G>C (p.Ala2408Pro) n.1104G>C c.1-12053G>C (n.1-12053G>C) c.6478G>C (p.Ala2160Pro) c.7024G>C (p.Ala2342Pro) c.6841G>C (p.Ala2281Pro) c.6562G>C (p.Ala2188Pro) c.5605G>C (p.Ala1869Pro) c.5596G>C (p.Ala1866Pro) | |
5 | g.37052525G>T | CA359511898 | NIPBL | c.7222G>T (p.Ala2408Ser) n.1104G>T c.1-12053G>T (n.1-12053G>T) c.6478G>T (p.Ala2160Ser) c.7024G>T (p.Ala2342Ser) c.6841G>T (p.Ala2281Ser) c.6562G>T (p.Ala2188Ser) c.5605G>T (p.Ala1869Ser) c.5596G>T (p.Ala1866Ser) | |
5 | g.37052526C>A | CA359511900 | NIPBL | c.7223C>A (p.Ala2408Asp) n.1105C>A c.1-12052C>A (n.1-12052C>A) c.6479C>A (p.Ala2160Asp) c.7025C>A (p.Ala2342Asp) c.6842C>A (p.Ala2281Asp) c.6563C>A (p.Ala2188Asp) c.5606C>A (p.Ala1869Asp) c.5597C>A (p.Ala1866Asp) | |
5 | g.37052526C>G | CA359511901 | NIPBL | c.7223C>G (p.Ala2408Gly) n.1105C>G c.1-12052C>G (n.1-12052C>G) c.6479C>G (p.Ala2160Gly) c.7025C>G (p.Ala2342Gly) c.6842C>G (p.Ala2281Gly) c.6563C>G (p.Ala2188Gly) c.5606C>G (p.Ala1869Gly) c.5597C>G (p.Ala1866Gly) | |
5 | g.37052526C>T | CA359511905 | NIPBL | c.7223C>T (p.Ala2408Val) n.1105C>T c.1-12052C>T (n.1-12052C>T) c.6479C>T (p.Ala2160Val) c.7025C>T (p.Ala2342Val) c.6842C>T (p.Ala2281Val) c.6563C>T (p.Ala2188Val) c.5606C>T (p.Ala1869Val) c.5597C>T (p.Ala1866Val) | |
5 | g.37052527C>A | CA443912054 | NIPBL | c.7224C>A (p.Ala2408=) n.1106C>A c.1-12051C>A (n.1-12051C>A) c.6480C>A (p.Ala2160=) c.7026C>A (p.Ala2342=) c.6843C>A (p.Ala2281=) c.6564C>A (p.Ala2188=) c.5607C>A (p.Ala1869=) c.5598C>A (p.Ala1866=) | |
5 | g.37052527C= | CA1539572389 | NIPBL | c.7224C= (p.Ala2408=) n.1106C= c.1-12051C= (n.1-12051C=) c.6480C= (p.Ala2160=) c.7026C= (p.Ala2342=) c.6843C= (p.Ala2281=) c.6564C= (p.Ala2188=) c.5607C= (p.Ala1869=) c.5598C= (p.Ala1866=) | |
5 | g.37052527C>G | CA443912055 | NIPBL | c.7224C>G (p.Ala2408=) n.1106C>G c.1-12051C>G (n.1-12051C>G) c.6480C>G (p.Ala2160=) c.7026C>G (p.Ala2342=) c.6843C>G (p.Ala2281=) c.6564C>G (p.Ala2188=) c.5607C>G (p.Ala1869=) c.5598C>G (p.Ala1866=) | |
5 | g.37052527C>T | CA443912057 | NIPBL | c.7224C>T (p.Ala2408=) n.1106C>T c.1-12051C>T (n.1-12051C>T) c.6480C>T (p.Ala2160=) c.7026C>T (p.Ala2342=) c.6843C>T (p.Ala2281=) c.6564C>T (p.Ala2188=) c.5607C>T (p.Ala1869=) c.5598C>T (p.Ala1866=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.37052528T>A | CA359511910 | NIPBL | c.7225T>A (p.Phe2409Ile) n.1107T>A c.1-12050T>A (n.1-12050T>A) c.6481T>A (p.Phe2161Ile) c.7027T>A (p.Phe2343Ile) c.6844T>A (p.Phe2282Ile) c.6565T>A (p.Phe2189Ile) c.5608T>A (p.Phe1870Ile) c.5599T>A (p.Phe1867Ile) | |
5 | g.37052528T>C | CA359511913 | NIPBL | c.7225T>C (p.Phe2409Leu) n.1107T>C c.1-12050T>C (n.1-12050T>C) c.6481T>C (p.Phe2161Leu) c.7027T>C (p.Phe2343Leu) c.6844T>C (p.Phe2282Leu) c.6565T>C (p.Phe2189Leu) c.5608T>C (p.Phe1870Leu) c.5599T>C (p.Phe1867Leu) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.37052528T>G | CA359511907 | NIPBL | c.7225T>G (p.Phe2409Val) n.1107T>G c.1-12050T>G (n.1-12050T>G) c.6481T>G (p.Phe2161Val) c.7027T>G (p.Phe2343Val) c.6844T>G (p.Phe2282Val) c.6565T>G (p.Phe2189Val) c.5608T>G (p.Phe1870Val) c.5599T>G (p.Phe1867Val) | |
5 | g.37052528T= | CA1539572393 | NIPBL | c.7225T= (p.Phe2409=) n.1107T= c.1-12050T= (n.1-12050T=) c.6481T= (p.Phe2161=) c.7027T= (p.Phe2343=) c.6844T= (p.Phe2282=) c.6565T= (p.Phe2189=) c.5608T= (p.Phe1870=) c.5599T= (p.Phe1867=) | |
5 | g.37052529T>A | CA359511915 | NIPBL | c.7226T>A (p.Phe2409Tyr) n.1108T>A c.1-12049T>A (n.1-12049T>A) c.6482T>A (p.Phe2161Tyr) c.7028T>A (p.Phe2343Tyr) c.6845T>A (p.Phe2282Tyr) c.6566T>A (p.Phe2189Tyr) c.5609T>A (p.Phe1870Tyr) c.5600T>A (p.Phe1867Tyr) | |
5 | g.37052529T>C | CA359511919 | NIPBL | c.7226T>C (p.Phe2409Ser) n.1108T>C c.1-12049T>C (n.1-12049T>C) c.6482T>C (p.Phe2161Ser) c.7028T>C (p.Phe2343Ser) c.6845T>C (p.Phe2282Ser) c.6566T>C (p.Phe2189Ser) c.5609T>C (p.Phe1870Ser) c.5600T>C (p.Phe1867Ser) | |
5 | g.37052529T>G | CA359511917 | NIPBL | c.7226T>G (p.Phe2409Cys) n.1108T>G c.1-12049T>G (n.1-12049T>G) c.6482T>G (p.Phe2161Cys) c.7028T>G (p.Phe2343Cys) c.6845T>G (p.Phe2282Cys) c.6566T>G (p.Phe2189Cys) c.5609T>G (p.Phe1870Cys) c.5600T>G (p.Phe1867Cys) | dbSNP |
5 | g.37052530T>A | CA359511920 | NIPBL | c.7227T>A (p.Phe2409Leu) n.1109T>A c.1-12048T>A (n.1-12048T>A) c.6483T>A (p.Phe2161Leu) c.7029T>A (p.Phe2343Leu) c.6846T>A (p.Phe2282Leu) c.6567T>A (p.Phe2189Leu) c.5610T>A (p.Phe1870Leu) c.5601T>A (p.Phe1867Leu) | |
5 | g.37052530T>C | CA443912070 | NIPBL | c.7227T>C (p.Phe2409=) n.1109T>C c.1-12048T>C (n.1-12048T>C) c.6483T>C (p.Phe2161=) c.7029T>C (p.Phe2343=) c.6846T>C (p.Phe2282=) c.6567T>C (p.Phe2189=) c.5610T>C (p.Phe1870=) c.5601T>C (p.Phe1867=) | |
5 | g.37052530T>G | CA359511923 | NIPBL | c.7227T>G (p.Phe2409Leu) n.1109T>G c.1-12048T>G (n.1-12048T>G) c.6483T>G (p.Phe2161Leu) c.7029T>G (p.Phe2343Leu) c.6846T>G (p.Phe2282Leu) c.6567T>G (p.Phe2189Leu) c.5610T>G (p.Phe1870Leu) c.5601T>G (p.Phe1867Leu) | |
5 | g.37052531C>A | CA359511925 | NIPBL | c.7228C>A (p.Leu2410Ile) n.1110C>A c.1-12047C>A (n.1-12047C>A) c.6484C>A (p.Leu2162Ile) c.7030C>A (p.Leu2344Ile) c.6847C>A (p.Leu2283Ile) c.6568C>A (p.Leu2190Ile) c.5611C>A (p.Leu1871Ile) c.5602C>A (p.Leu1868Ile) | |
5 | g.37052531C>G | CA359511928 | NIPBL | c.7228C>G (p.Leu2410Val) n.1110C>G c.1-12047C>G (n.1-12047C>G) c.6484C>G (p.Leu2162Val) c.7030C>G (p.Leu2344Val) c.6847C>G (p.Leu2283Val) c.6568C>G (p.Leu2190Val) c.5611C>G (p.Leu1871Val) c.5602C>G (p.Leu1868Val) | |
5 | g.37052531C>T | CA359511927 | NIPBL | c.7228C>T (p.Leu2410Phe) n.1110C>T c.1-12047C>T (n.1-12047C>T) c.6484C>T (p.Leu2162Phe) c.7030C>T (p.Leu2344Phe) c.6847C>T (p.Leu2283Phe) c.6568C>T (p.Leu2190Phe) c.5611C>T (p.Leu1871Phe) c.5602C>T (p.Leu1868Phe) |