| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | 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) |