Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.37020822G>A | CA359488119 | NIPBL | c.5273G>A (p.Arg1758Gln) c.1-43756G>A (n.1-43756G>A) c.4529G>A (p.Arg1510Gln) c.5075G>A (p.Arg1692Gln) c.4892G>A (p.Arg1631Gln) c.4613G>A (p.Arg1538Gln) c.3656G>A (p.Arg1219Gln) c.3647G>A (p.Arg1216Gln) | gnomAD v4 COSMIC COSMIC |
5 | g.37020822G>C | CA359488121 | NIPBL | c.5273G>C (p.Arg1758Pro) c.1-43756G>C (n.1-43756G>C) c.4529G>C (p.Arg1510Pro) c.5075G>C (p.Arg1692Pro) c.4892G>C (p.Arg1631Pro) c.4613G>C (p.Arg1538Pro) c.3656G>C (p.Arg1219Pro) c.3647G>C (p.Arg1216Pro) | |
5 | g.37020822G>T | CA359488124 | NIPBL | c.5273G>T (p.Arg1758Leu) c.1-43756G>T (n.1-43756G>T) c.4529G>T (p.Arg1510Leu) c.5075G>T (p.Arg1692Leu) c.4892G>T (p.Arg1631Leu) c.4613G>T (p.Arg1538Leu) c.3656G>T (p.Arg1219Leu) c.3647G>T (p.Arg1216Leu) | gnomAD v4 |
5 | g.37020823A= | CA1539584719 | NIPBL | c.5274A= (p.Arg1758=) c.1-43755A= (n.1-43755A=) c.4530A= (p.Arg1510=) c.5076A= (p.Arg1692=) c.4893A= (p.Arg1631=) c.4614A= (p.Arg1538=) c.3657A= (p.Arg1219=) c.3648A= (p.Arg1216=) | |
5 | g.37020823A>C | CA443905207 | NIPBL | c.5274A>C (p.Arg1758=) c.1-43755A>C (n.1-43755A>C) c.4530A>C (p.Arg1510=) c.5076A>C (p.Arg1692=) c.4893A>C (p.Arg1631=) c.4614A>C (p.Arg1538=) c.3657A>C (p.Arg1219=) c.3648A>C (p.Arg1216=) | |
5 | g.37020823A>G | CA3236740 | NIPBL | c.5274A>G (p.Arg1758=) c.1-43755A>G (n.1-43755A>G) c.4530A>G (p.Arg1510=) c.5076A>G (p.Arg1692=) c.4893A>G (p.Arg1631=) c.4614A>G (p.Arg1538=) c.3657A>G (p.Arg1219=) c.3648A>G (p.Arg1216=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.37020823A>T | CA443905208 | NIPBL | c.5274A>T (p.Arg1758=) c.1-43755A>T (n.1-43755A>T) c.4530A>T (p.Arg1510=) c.5076A>T (p.Arg1692=) c.4893A>T (p.Arg1631=) c.4614A>T (p.Arg1538=) c.3657A>T (p.Arg1219=) c.3648A>T (p.Arg1216=) | |
5 | g.37020824T>A | CA359488135 | NIPBL | c.5275T>A (p.Tyr1759Asn) c.1-43754T>A (n.1-43754T>A) c.4531T>A (p.Tyr1511Asn) c.5077T>A (p.Tyr1693Asn) c.4894T>A (p.Tyr1632Asn) c.4615T>A (p.Tyr1539Asn) c.3658T>A (p.Tyr1220Asn) c.3649T>A (p.Tyr1217Asn) | |
5 | g.37020824T>C | CA359488138 | NIPBL | c.5275T>C (p.Tyr1759His) c.1-43754T>C (n.1-43754T>C) c.4531T>C (p.Tyr1511His) c.5077T>C (p.Tyr1693His) c.4894T>C (p.Tyr1632His) c.4615T>C (p.Tyr1539His) c.3658T>C (p.Tyr1220His) c.3649T>C (p.Tyr1217His) | |
5 | g.37020824T>G | CA359488142 | NIPBL | c.5275T>G (p.Tyr1759Asp) c.1-43754T>G (n.1-43754T>G) c.4531T>G (p.Tyr1511Asp) c.5077T>G (p.Tyr1693Asp) c.4894T>G (p.Tyr1632Asp) c.4615T>G (p.Tyr1539Asp) c.3658T>G (p.Tyr1220Asp) c.3649T>G (p.Tyr1217Asp) | |
5 | g.37020825A>C | CA359488145 | NIPBL | c.5276A>C (p.Tyr1759Ser) c.1-43753A>C (n.1-43753A>C) c.4532A>C (p.Tyr1511Ser) c.5078A>C (p.Tyr1693Ser) c.4895A>C (p.Tyr1632Ser) c.4616A>C (p.Tyr1539Ser) c.3659A>C (p.Tyr1220Ser) c.3650A>C (p.Tyr1217Ser) | |
5 | g.37020825A>G | CA359488154 | NIPBL | c.5276A>G (p.Tyr1759Cys) c.1-43753A>G (n.1-43753A>G) c.4532A>G (p.Tyr1511Cys) c.5078A>G (p.Tyr1693Cys) c.4895A>G (p.Tyr1632Cys) c.4616A>G (p.Tyr1539Cys) c.3659A>G (p.Tyr1220Cys) c.3650A>G (p.Tyr1217Cys) | |
5 | g.37020825A>T | CA359488151 | NIPBL | c.5276A>T (p.Tyr1759Phe) c.1-43753A>T (n.1-43753A>T) c.4532A>T (p.Tyr1511Phe) c.5078A>T (p.Tyr1693Phe) c.4895A>T (p.Tyr1632Phe) c.4616A>T (p.Tyr1539Phe) c.3659A>T (p.Tyr1220Phe) c.3650A>T (p.Tyr1217Phe) | |
5 | g.37020826C>A | CA359488159 | NIPBL | c.5277C>A (p.Tyr1759Ter) c.1-43752C>A (n.1-43752C>A) c.4533C>A (p.Tyr1511Ter) c.5079C>A (p.Tyr1693Ter) c.4896C>A (p.Tyr1632Ter) c.4617C>A (p.Tyr1539Ter) c.3660C>A (p.Tyr1220Ter) c.3651C>A (p.Tyr1217Ter) | |
5 | g.37020826C= | CA1539584730 | NIPBL | c.5277C= (p.Tyr1759=) c.1-43752C= (n.1-43752C=) c.4533C= (p.Tyr1511=) c.5079C= (p.Tyr1693=) c.4896C= (p.Tyr1632=) c.4617C= (p.Tyr1539=) c.3660C= (p.Tyr1220=) c.3651C= (p.Tyr1217=) | |
5 | g.37020826C>G | CA359488162 | NIPBL | c.5277C>G (p.Tyr1759Ter) c.1-43752C>G (n.1-43752C>G) c.4533C>G (p.Tyr1511Ter) c.5079C>G (p.Tyr1693Ter) c.4896C>G (p.Tyr1632Ter) c.4617C>G (p.Tyr1539Ter) c.3660C>G (p.Tyr1220Ter) c.3651C>G (p.Tyr1217Ter) | |
5 | g.37020826C>T | CA443905211 | NIPBL | c.5277C>T (p.Tyr1759=) c.1-43752C>T (n.1-43752C>T) c.4533C>T (p.Tyr1511=) c.5079C>T (p.Tyr1693=) c.4896C>T (p.Tyr1632=) c.4617C>T (p.Tyr1539=) c.3660C>T (p.Tyr1220=) c.3651C>T (p.Tyr1217=) | dbSNP gnomAD v4 |
5 | g.37020827T>A | CA359488166 | NIPBL | c.5278T>A (p.Leu1760Met) c.1-43751T>A (n.1-43751T>A) c.4534T>A (p.Leu1512Met) c.5080T>A (p.Leu1694Met) c.4897T>A (p.Leu1633Met) c.4618T>A (p.Leu1540Met) c.3661T>A (p.Leu1221Met) c.3652T>A (p.Leu1218Met) | |
5 | g.37020827T>C | CA443905212 | NIPBL | c.5278T>C (p.Leu1760=) c.1-43751T>C (n.1-43751T>C) c.4534T>C (p.Leu1512=) c.5080T>C (p.Leu1694=) c.4897T>C (p.Leu1633=) c.4618T>C (p.Leu1540=) c.3661T>C (p.Leu1221=) c.3652T>C (p.Leu1218=) | |
5 | g.37020827T>G | CA359488167 | NIPBL | c.5278T>G (p.Leu1760Val) c.1-43751T>G (n.1-43751T>G) c.4534T>G (p.Leu1512Val) c.5080T>G (p.Leu1694Val) c.4897T>G (p.Leu1633Val) c.4618T>G (p.Leu1540Val) c.3661T>G (p.Leu1221Val) c.3652T>G (p.Leu1218Val) | |
5 | g.37020828T>A | CA359488171 | NIPBL | c.5279T>A (p.Leu1760Ter) c.1-43750T>A (n.1-43750T>A) c.4535T>A (p.Leu1512Ter) c.5081T>A (p.Leu1694Ter) c.4898T>A (p.Leu1633Ter) c.4619T>A (p.Leu1540Ter) c.3662T>A (p.Leu1221Ter) c.3653T>A (p.Leu1218Ter) | |
5 | g.37020828T>C | CA359488172 | NIPBL | c.5279T>C (p.Leu1760Ser) c.1-43750T>C (n.1-43750T>C) c.4535T>C (p.Leu1512Ser) c.5081T>C (p.Leu1694Ser) c.4898T>C (p.Leu1633Ser) c.4619T>C (p.Leu1540Ser) c.3662T>C (p.Leu1221Ser) c.3653T>C (p.Leu1218Ser) | |
5 | g.37020828T>G | CA359488173 | NIPBL | c.5279T>G (p.Leu1760Trp) c.1-43750T>G (n.1-43750T>G) c.4535T>G (p.Leu1512Trp) c.5081T>G (p.Leu1694Trp) c.4898T>G (p.Leu1633Trp) c.4619T>G (p.Leu1540Trp) c.3662T>G (p.Leu1221Trp) c.3653T>G (p.Leu1218Trp) | |
5 | g.37020829G>A | CA443905213 | NIPBL | c.5280G>A (p.Leu1760=) c.1-43749G>A (n.1-43749G>A) c.4536G>A (p.Leu1512=) c.5082G>A (p.Leu1694=) c.4899G>A (p.Leu1633=) c.4620G>A (p.Leu1540=) c.3663G>A (p.Leu1221=) c.3654G>A (p.Leu1218=) | |
5 | g.37020829G>C | CA359488177 | NIPBL | c.5280G>C (p.Leu1760Phe) c.1-43749G>C (n.1-43749G>C) c.4536G>C (p.Leu1512Phe) c.5082G>C (p.Leu1694Phe) c.4899G>C (p.Leu1633Phe) c.4620G>C (p.Leu1540Phe) c.3663G>C (p.Leu1221Phe) c.3654G>C (p.Leu1218Phe) | |
5 | g.37020829G>T | CA359488185 | NIPBL | c.5280G>T (p.Leu1760Phe) c.1-43749G>T (n.1-43749G>T) c.4536G>T (p.Leu1512Phe) c.5082G>T (p.Leu1694Phe) c.4899G>T (p.Leu1633Phe) c.4620G>T (p.Leu1540Phe) c.3663G>T (p.Leu1221Phe) c.3654G>T (p.Leu1218Phe) | |
5 | g.37020830G>A | CA359488187 | NIPBL | c.5281G>A (p.Ala1761Thr) c.1-43748G>A (n.1-43748G>A) c.4537G>A (p.Ala1513Thr) c.5083G>A (p.Ala1695Thr) c.4900G>A (p.Ala1634Thr) c.4621G>A (p.Ala1541Thr) c.3664G>A (p.Ala1222Thr) c.3655G>A (p.Ala1219Thr) | |
5 | g.37020830G>C | CA359488192 | NIPBL | c.5281G>C (p.Ala1761Pro) c.1-43748G>C (n.1-43748G>C) c.4537G>C (p.Ala1513Pro) c.5083G>C (p.Ala1695Pro) c.4900G>C (p.Ala1634Pro) c.4621G>C (p.Ala1541Pro) c.3664G>C (p.Ala1222Pro) c.3655G>C (p.Ala1219Pro) | |
5 | g.37020830G>T | CA359488196 | NIPBL | c.5281G>T (p.Ala1761Ser) c.1-43748G>T (n.1-43748G>T) c.4537G>T (p.Ala1513Ser) c.5083G>T (p.Ala1695Ser) c.4900G>T (p.Ala1634Ser) c.4621G>T (p.Ala1541Ser) c.3664G>T (p.Ala1222Ser) c.3655G>T (p.Ala1219Ser) | |
5 | g.37020831C>A | CA359488209 | NIPBL | c.5282C>A (p.Ala1761Asp) c.1-43747C>A (n.1-43747C>A) c.4538C>A (p.Ala1513Asp) c.5084C>A (p.Ala1695Asp) c.4901C>A (p.Ala1634Asp) c.4622C>A (p.Ala1541Asp) c.3665C>A (p.Ala1222Asp) c.3656C>A (p.Ala1219Asp) | |
5 | g.37020831C>G | CA359488201 | NIPBL | c.5282C>G (p.Ala1761Gly) c.1-43747C>G (n.1-43747C>G) c.4538C>G (p.Ala1513Gly) c.5084C>G (p.Ala1695Gly) c.4901C>G (p.Ala1634Gly) c.4622C>G (p.Ala1541Gly) c.3665C>G (p.Ala1222Gly) c.3656C>G (p.Ala1219Gly) | |
5 | g.37020831C>T | CA359488206 | NIPBL | c.5282C>T (p.Ala1761Val) c.1-43747C>T (n.1-43747C>T) c.4538C>T (p.Ala1513Val) c.5084C>T (p.Ala1695Val) c.4901C>T (p.Ala1634Val) c.4622C>T (p.Ala1541Val) c.3665C>T (p.Ala1222Val) c.3656C>T (p.Ala1219Val) | |
5 | g.37020832C>A | CA443905214 | NIPBL | c.5283C>A (p.Ala1761=) c.1-43746C>A (n.1-43746C>A) c.4539C>A (p.Ala1513=) c.5085C>A (p.Ala1695=) c.4902C>A (p.Ala1634=) c.4623C>A (p.Ala1541=) c.3666C>A (p.Ala1222=) c.3657C>A (p.Ala1219=) | |
5 | g.37020832C>G | CA443905215 | NIPBL | c.5283C>G (p.Ala1761=) c.1-43746C>G (n.1-43746C>G) c.4539C>G (p.Ala1513=) c.5085C>G (p.Ala1695=) c.4902C>G (p.Ala1634=) c.4623C>G (p.Ala1541=) c.3666C>G (p.Ala1222=) c.3657C>G (p.Ala1219=) | |
5 | g.37020832C>T | CA443905216 | NIPBL | c.5283C>T (p.Ala1761=) c.1-43746C>T (n.1-43746C>T) c.4539C>T (p.Ala1513=) c.5085C>T (p.Ala1695=) c.4902C>T (p.Ala1634=) c.4623C>T (p.Ala1541=) c.3666C>T (p.Ala1222=) c.3657C>T (p.Ala1219=) | |
5 | g.37020833T>A | CA359488213 | NIPBL | c.5284T>A (p.Ser1762Thr) c.1-43745T>A (n.1-43745T>A) c.4540T>A (p.Ser1514Thr) c.5086T>A (p.Ser1696Thr) c.4903T>A (p.Ser1635Thr) c.4624T>A (p.Ser1542Thr) c.3667T>A (p.Ser1223Thr) c.3658T>A (p.Ser1220Thr) | gnomAD v4 |
5 | g.37020833T>C | CA359488219 | NIPBL | c.5284T>C (p.Ser1762Pro) c.1-43745T>C (n.1-43745T>C) c.4540T>C (p.Ser1514Pro) c.5086T>C (p.Ser1696Pro) c.4903T>C (p.Ser1635Pro) c.4624T>C (p.Ser1542Pro) c.3667T>C (p.Ser1223Pro) c.3658T>C (p.Ser1220Pro) | |
5 | g.37020833T>G | CA359488215 | NIPBL | c.5284T>G (p.Ser1762Ala) c.1-43745T>G (n.1-43745T>G) c.4540T>G (p.Ser1514Ala) c.5086T>G (p.Ser1696Ala) c.4903T>G (p.Ser1635Ala) c.4624T>G (p.Ser1542Ala) c.3667T>G (p.Ser1223Ala) c.3658T>G (p.Ser1220Ala) | |
5 | g.37020834C>A | CA359488223 | NIPBL | c.5285C>A (p.Ser1762Tyr) c.1-43744C>A (n.1-43744C>A) c.4541C>A (p.Ser1514Tyr) c.5087C>A (p.Ser1696Tyr) c.4904C>A (p.Ser1635Tyr) c.4625C>A (p.Ser1542Tyr) c.3668C>A (p.Ser1223Tyr) c.3659C>A (p.Ser1220Tyr) | |
5 | g.37020834C>G | CA359488227 | NIPBL | c.5285C>G (p.Ser1762Cys) c.1-43744C>G (n.1-43744C>G) c.4541C>G (p.Ser1514Cys) c.5087C>G (p.Ser1696Cys) c.4904C>G (p.Ser1635Cys) c.4625C>G (p.Ser1542Cys) c.3668C>G (p.Ser1223Cys) c.3659C>G (p.Ser1220Cys) | |
5 | g.37020834C>T | CA359488229 | NIPBL | c.5285C>T (p.Ser1762Phe) c.1-43744C>T (n.1-43744C>T) c.4541C>T (p.Ser1514Phe) c.5087C>T (p.Ser1696Phe) c.4904C>T (p.Ser1635Phe) c.4625C>T (p.Ser1542Phe) c.3668C>T (p.Ser1223Phe) c.3659C>T (p.Ser1220Phe) | gnomAD v4 |
5 | g.37020835C>A | CA443905217 | NIPBL | c.5286C>A (p.Ser1762=) c.1-43743C>A (n.1-43743C>A) c.4542C>A (p.Ser1514=) c.5088C>A (p.Ser1696=) c.4905C>A (p.Ser1635=) c.4626C>A (p.Ser1542=) c.3669C>A (p.Ser1223=) c.3660C>A (p.Ser1220=) | gnomAD v4 COSMIC COSMIC |
5 | g.37020835C>G | CA443905218 | NIPBL | c.5286C>G (p.Ser1762=) c.1-43743C>G (n.1-43743C>G) c.4542C>G (p.Ser1514=) c.5088C>G (p.Ser1696=) c.4905C>G (p.Ser1635=) c.4626C>G (p.Ser1542=) c.3669C>G (p.Ser1223=) c.3660C>G (p.Ser1220=) | |
5 | g.37020835C>T | CA443905219 | NIPBL | c.5286C>T (p.Ser1762=) c.1-43743C>T (n.1-43743C>T) c.4542C>T (p.Ser1514=) c.5088C>T (p.Ser1696=) c.4905C>T (p.Ser1635=) c.4626C>T (p.Ser1542=) c.3669C>T (p.Ser1223=) c.3660C>T (p.Ser1220=) | |
5 | g.37020836A>C | CA359488232 | NIPBL | c.5287A>C (p.Met1763Leu) c.1-43742A>C (n.1-43742A>C) c.4543A>C (p.Met1515Leu) c.5089A>C (p.Met1697Leu) c.4906A>C (p.Met1636Leu) c.4627A>C (p.Met1543Leu) c.3670A>C (p.Met1224Leu) c.3661A>C (p.Met1221Leu) | |
5 | g.37020836A>G | CA359488236 | NIPBL | c.5287A>G (p.Met1763Val) c.1-43742A>G (n.1-43742A>G) c.4543A>G (p.Met1515Val) c.5089A>G (p.Met1697Val) c.4906A>G (p.Met1636Val) c.4627A>G (p.Met1543Val) c.3670A>G (p.Met1224Val) c.3661A>G (p.Met1221Val) | |
5 | g.37020836A>T | CA359488241 | NIPBL | c.5287A>T (p.Met1763Leu) c.1-43742A>T (n.1-43742A>T) c.4543A>T (p.Met1515Leu) c.5089A>T (p.Met1697Leu) c.4906A>T (p.Met1636Leu) c.4627A>T (p.Met1543Leu) c.3670A>T (p.Met1224Leu) c.3661A>T (p.Met1221Leu) | gnomAD v4 |
5 | g.37020837T>A | CA359488244 | NIPBL | c.5288T>A (p.Met1763Lys) c.1-43741T>A (n.1-43741T>A) c.4544T>A (p.Met1515Lys) c.5090T>A (p.Met1697Lys) c.4907T>A (p.Met1636Lys) c.4628T>A (p.Met1543Lys) c.3671T>A (p.Met1224Lys) c.3662T>A (p.Met1221Lys) | |
5 | g.37020837T>C | CA359488246 | NIPBL | c.5288T>C (p.Met1763Thr) c.1-43741T>C (n.1-43741T>C) c.4544T>C (p.Met1515Thr) c.5090T>C (p.Met1697Thr) c.4907T>C (p.Met1636Thr) c.4628T>C (p.Met1543Thr) c.3671T>C (p.Met1224Thr) c.3662T>C (p.Met1221Thr) | |
5 | g.37020837T>G | CA359488257 | NIPBL | c.5288T>G (p.Met1763Arg) c.1-43741T>G (n.1-43741T>G) c.4544T>G (p.Met1515Arg) c.5090T>G (p.Met1697Arg) c.4907T>G (p.Met1636Arg) c.4628T>G (p.Met1543Arg) c.3671T>G (p.Met1224Arg) c.3662T>G (p.Met1221Arg) | |
5 | g.37020838G>A | CA359488264 | NIPBL | c.5289G>A (p.Met1763Ile) c.1-43740G>A (n.1-43740G>A) c.4545G>A (p.Met1515Ile) c.5091G>A (p.Met1697Ile) c.4908G>A (p.Met1636Ile) c.4629G>A (p.Met1543Ile) c.3672G>A (p.Met1224Ile) c.3663G>A (p.Met1221Ile) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37020838G>C | CA359488275 | NIPBL | c.5289G>C (p.Met1763Ile) c.1-43740G>C (n.1-43740G>C) c.4545G>C (p.Met1515Ile) c.5091G>C (p.Met1697Ile) c.4908G>C (p.Met1636Ile) c.4629G>C (p.Met1543Ile) c.3672G>C (p.Met1224Ile) c.3663G>C (p.Met1221Ile) | |
5 | g.37020838G= | CA1539584738 | NIPBL | c.5289G= (p.Met1763=) c.1-43740G= (n.1-43740G=) c.4545G= (p.Met1515=) c.5091G= (p.Met1697=) c.4908G= (p.Met1636=) c.4629G= (p.Met1543=) c.3672G= (p.Met1224=) c.3663G= (p.Met1221=) | |
5 | g.37020838G>T | CA359488277 | NIPBL | c.5289G>T (p.Met1763Ile) c.1-43740G>T (n.1-43740G>T) c.4545G>T (p.Met1515Ile) c.5091G>T (p.Met1697Ile) c.4908G>T (p.Met1636Ile) c.4629G>T (p.Met1543Ile) c.3672G>T (p.Met1224Ile) c.3663G>T (p.Met1221Ile) | |
5 | g.37020839A>C | CA443905220 | NIPBL | c.5290A>C (p.Arg1764=) c.1-43739A>C (n.1-43739A>C) c.4546A>C (p.Arg1516=) c.5092A>C (p.Arg1698=) c.4909A>C (p.Arg1637=) c.4630A>C (p.Arg1544=) c.3673A>C (p.Arg1225=) c.3664A>C (p.Arg1222=) | |
5 | g.37020839A>G | CA359488280 | NIPBL | c.5290A>G (p.Arg1764Gly) c.1-43739A>G (n.1-43739A>G) c.4546A>G (p.Arg1516Gly) c.5092A>G (p.Arg1698Gly) c.4909A>G (p.Arg1637Gly) c.4630A>G (p.Arg1544Gly) c.3673A>G (p.Arg1225Gly) c.3664A>G (p.Arg1222Gly) | |
5 | g.37020839A>T | CA359488282 | NIPBL | c.5290A>T (p.Arg1764Trp) c.1-43739A>T (n.1-43739A>T) c.4546A>T (p.Arg1516Trp) c.5092A>T (p.Arg1698Trp) c.4909A>T (p.Arg1637Trp) c.4630A>T (p.Arg1544Trp) c.3673A>T (p.Arg1225Trp) c.3664A>T (p.Arg1222Trp) | |
5 | g.37020840G>A | CA359488284 | NIPBL | c.5291G>A (p.Arg1764Lys) c.1-43738G>A (n.1-43738G>A) c.4547G>A (p.Arg1516Lys) c.5093G>A (p.Arg1698Lys) c.4910G>A (p.Arg1637Lys) c.4631G>A (p.Arg1544Lys) c.3674G>A (p.Arg1225Lys) c.3665G>A (p.Arg1222Lys) | |
5 | g.37020840G>C | CA359488285 | NIPBL | c.5291G>C (p.Arg1764Thr) c.1-43738G>C (n.1-43738G>C) c.4547G>C (p.Arg1516Thr) c.5093G>C (p.Arg1698Thr) c.4910G>C (p.Arg1637Thr) c.4631G>C (p.Arg1544Thr) c.3674G>C (p.Arg1225Thr) c.3665G>C (p.Arg1222Thr) | |
5 | g.37020840G>T | CA359488287 | NIPBL | c.5291G>T (p.Arg1764Met) c.1-43738G>T (n.1-43738G>T) c.4547G>T (p.Arg1516Met) c.5093G>T (p.Arg1698Met) c.4910G>T (p.Arg1637Met) c.4631G>T (p.Arg1544Met) c.3674G>T (p.Arg1225Met) c.3665G>T (p.Arg1222Met) | |
5 | g.37020841G>A | CA443905221 | NIPBL | c.5292G>A (p.Arg1764=) c.1-43737G>A (n.1-43737G>A) c.4548G>A (p.Arg1516=) c.5094G>A (p.Arg1698=) c.4911G>A (p.Arg1637=) c.4632G>A (p.Arg1544=) c.3675G>A (p.Arg1225=) c.3666G>A (p.Arg1222=) | |
5 | g.37020841G>C | CA359488291 | NIPBL | c.5292G>C (p.Arg1764Ser) c.1-43737G>C (n.1-43737G>C) c.4548G>C (p.Arg1516Ser) c.5094G>C (p.Arg1698Ser) c.4911G>C (p.Arg1637Ser) c.4632G>C (p.Arg1544Ser) c.3675G>C (p.Arg1225Ser) c.3666G>C (p.Arg1222Ser) | |
5 | g.37020841G>T | CA359488294 | NIPBL | c.5292G>T (p.Arg1764Ser) c.1-43737G>T (n.1-43737G>T) c.4548G>T (p.Arg1516Ser) c.5094G>T (p.Arg1698Ser) c.4911G>T (p.Arg1637Ser) c.4632G>T (p.Arg1544Ser) c.3675G>T (p.Arg1225Ser) c.3666G>T (p.Arg1222Ser) | |
5 | g.37020842C>A | CA359488298 | NIPBL | c.5293C>A (p.Pro1765Thr) c.1-43736C>A (n.1-43736C>A) c.4549C>A (p.Pro1517Thr) c.5095C>A (p.Pro1699Thr) c.4912C>A (p.Pro1638Thr) c.4633C>A (p.Pro1545Thr) c.3676C>A (p.Pro1226Thr) c.3667C>A (p.Pro1223Thr) | |
5 | g.37020842C= | CA1539584744 | NIPBL | c.5293C= (p.Pro1765=) c.1-43736C= (n.1-43736C=) c.4549C= (p.Pro1517=) c.5095C= (p.Pro1699=) c.4912C= (p.Pro1638=) c.4633C= (p.Pro1545=) c.3676C= (p.Pro1226=) c.3667C= (p.Pro1223=) | |
5 | g.37020842C>G | CA359488301 | NIPBL | c.5293C>G (p.Pro1765Ala) c.1-43736C>G (n.1-43736C>G) c.4549C>G (p.Pro1517Ala) c.5095C>G (p.Pro1699Ala) c.4912C>G (p.Pro1638Ala) c.4633C>G (p.Pro1545Ala) c.3676C>G (p.Pro1226Ala) c.3667C>G (p.Pro1223Ala) | |
5 | g.37020842C>T | CA359488308 | NIPBL | c.5293C>T (p.Pro1765Ser) c.1-43736C>T (n.1-43736C>T) c.4549C>T (p.Pro1517Ser) c.5095C>T (p.Pro1699Ser) c.4912C>T (p.Pro1638Ser) c.4633C>T (p.Pro1545Ser) c.3676C>T (p.Pro1226Ser) c.3667C>T (p.Pro1223Ser) | dbSNP |
5 | g.37020843C>A | CA359488311 | NIPBL | c.5294C>A (p.Pro1765Gln) c.1-43735C>A (n.1-43735C>A) c.4550C>A (p.Pro1517Gln) c.5096C>A (p.Pro1699Gln) c.4913C>A (p.Pro1638Gln) c.4634C>A (p.Pro1545Gln) c.3677C>A (p.Pro1226Gln) c.3668C>A (p.Pro1223Gln) | |
5 | g.37020843C>G | CA359488313 | NIPBL | c.5294C>G (p.Pro1765Arg) c.1-43735C>G (n.1-43735C>G) c.4550C>G (p.Pro1517Arg) c.5096C>G (p.Pro1699Arg) c.4913C>G (p.Pro1638Arg) c.4634C>G (p.Pro1545Arg) c.3677C>G (p.Pro1226Arg) c.3668C>G (p.Pro1223Arg) | |
5 | g.37020843C>T | CA359488316 | NIPBL | c.5294C>T (p.Pro1765Leu) c.1-43735C>T (n.1-43735C>T) c.4550C>T (p.Pro1517Leu) c.5096C>T (p.Pro1699Leu) c.4913C>T (p.Pro1638Leu) c.4634C>T (p.Pro1545Leu) c.3677C>T (p.Pro1226Leu) c.3668C>T (p.Pro1223Leu) | gnomAD v4 |
5 | g.37020844G>A | CA3236741 | NIPBL | c.5295G>A (p.Pro1765=) c.1-43734G>A (n.1-43734G>A) c.4551G>A (p.Pro1517=) c.5097G>A (p.Pro1699=) c.4914G>A (p.Pro1638=) c.4635G>A (p.Pro1545=) c.3678G>A (p.Pro1226=) c.3669G>A (p.Pro1223=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.37020844G>C | CA443905222 | NIPBL | c.5295G>C (p.Pro1765=) c.1-43734G>C (n.1-43734G>C) c.4551G>C (p.Pro1517=) c.5097G>C (p.Pro1699=) c.4914G>C (p.Pro1638=) c.4635G>C (p.Pro1545=) c.3678G>C (p.Pro1226=) c.3669G>C (p.Pro1223=) | ClinVar dbSNP gnomAD v4 |
5 | g.37020844G= | CA1539584752 | NIPBL | c.5295G= (p.Pro1765=) c.1-43734G= (n.1-43734G=) c.4551G= (p.Pro1517=) c.5097G= (p.Pro1699=) c.4914G= (p.Pro1638=) c.4635G= (p.Pro1545=) c.3678G= (p.Pro1226=) c.3669G= (p.Pro1223=) | |
5 | g.37020844G>T | CA443905223 | NIPBL | c.5295G>T (p.Pro1765=) c.1-43734G>T (n.1-43734G>T) c.4551G>T (p.Pro1517=) c.5097G>T (p.Pro1699=) c.4914G>T (p.Pro1638=) c.4635G>T (p.Pro1545=) c.3678G>T (p.Pro1226=) c.3669G>T (p.Pro1223=) | |
5 | g.37020845T>A | CA359488323 | NIPBL | c.5296T>A (p.Phe1766Ile) c.1-43733T>A (n.1-43733T>A) c.4552T>A (p.Phe1518Ile) c.5098T>A (p.Phe1700Ile) c.4915T>A (p.Phe1639Ile) c.4636T>A (p.Phe1546Ile) c.3679T>A (p.Phe1227Ile) c.3670T>A (p.Phe1224Ile) | |
5 | g.37020845T>C | CA359488334 | NIPBL | c.5296T>C (p.Phe1766Leu) c.1-43733T>C (n.1-43733T>C) c.4552T>C (p.Phe1518Leu) c.5098T>C (p.Phe1700Leu) c.4915T>C (p.Phe1639Leu) c.4636T>C (p.Phe1546Leu) c.3679T>C (p.Phe1227Leu) c.3670T>C (p.Phe1224Leu) | |
5 | g.37020845T>G | CA359488325 | NIPBL | c.5296T>G (p.Phe1766Val) c.1-43733T>G (n.1-43733T>G) c.4552T>G (p.Phe1518Val) c.5098T>G (p.Phe1700Val) c.4915T>G (p.Phe1639Val) c.4636T>G (p.Phe1546Val) c.3679T>G (p.Phe1227Val) c.3670T>G (p.Phe1224Val) | |
5 | g.37020846T>A | CA359488337 | NIPBL | c.5297T>A (p.Phe1766Tyr) c.1-43732T>A (n.1-43732T>A) c.4553T>A (p.Phe1518Tyr) c.5099T>A (p.Phe1700Tyr) c.4916T>A (p.Phe1639Tyr) c.4637T>A (p.Phe1546Tyr) c.3680T>A (p.Phe1227Tyr) c.3671T>A (p.Phe1224Tyr) | |
5 | g.37020846T>C | CA359488338 | NIPBL | c.5297T>C (p.Phe1766Ser) c.1-43732T>C (n.1-43732T>C) c.4553T>C (p.Phe1518Ser) c.5099T>C (p.Phe1700Ser) c.4916T>C (p.Phe1639Ser) c.4637T>C (p.Phe1546Ser) c.3680T>C (p.Phe1227Ser) c.3671T>C (p.Phe1224Ser) | gnomAD v4 |
5 | g.37020846T>G | CA359488339 | NIPBL | c.5297T>G (p.Phe1766Cys) c.1-43732T>G (n.1-43732T>G) c.4553T>G (p.Phe1518Cys) c.5099T>G (p.Phe1700Cys) c.4916T>G (p.Phe1639Cys) c.4637T>G (p.Phe1546Cys) c.3680T>G (p.Phe1227Cys) c.3671T>G (p.Phe1224Cys) | |
5 | g.37020847T>A | CA359488340 | NIPBL | c.5298T>A (p.Phe1766Leu) c.1-43731T>A (n.1-43731T>A) c.4554T>A (p.Phe1518Leu) c.5100T>A (p.Phe1700Leu) c.4917T>A (p.Phe1639Leu) c.4638T>A (p.Phe1546Leu) c.3681T>A (p.Phe1227Leu) c.3672T>A (p.Phe1224Leu) | |
5 | g.37020847T>C | CA443905224 | NIPBL | c.5298T>C (p.Phe1766=) c.1-43731T>C (n.1-43731T>C) c.4554T>C (p.Phe1518=) c.5100T>C (p.Phe1700=) c.4917T>C (p.Phe1639=) c.4638T>C (p.Phe1546=) c.3681T>C (p.Phe1227=) c.3672T>C (p.Phe1224=) | |
5 | g.37020847T>G | CA359488343 | NIPBL | c.5298T>G (p.Phe1766Leu) c.1-43731T>G (n.1-43731T>G) c.4554T>G (p.Phe1518Leu) c.5100T>G (p.Phe1700Leu) c.4917T>G (p.Phe1639Leu) c.4638T>G (p.Phe1546Leu) c.3681T>G (p.Phe1227Leu) c.3672T>G (p.Phe1224Leu) | |
5 | g.37020848G>A | CA359488347 | NIPBL | c.5299G>A (p.Ala1767Thr) c.1-43730G>A (n.1-43730G>A) c.4555G>A (p.Ala1519Thr) c.5101G>A (p.Ala1701Thr) c.4918G>A (p.Ala1640Thr) c.4639G>A (p.Ala1547Thr) c.3682G>A (p.Ala1228Thr) c.3673G>A (p.Ala1225Thr) | |
5 | g.37020848G>C | CA359488346 | NIPBL | c.5299G>C (p.Ala1767Pro) c.1-43730G>C (n.1-43730G>C) c.4555G>C (p.Ala1519Pro) c.5101G>C (p.Ala1701Pro) c.4918G>C (p.Ala1640Pro) c.4639G>C (p.Ala1547Pro) c.3682G>C (p.Ala1228Pro) c.3673G>C (p.Ala1225Pro) | |
5 | g.37020848G= | CA1539584763 | NIPBL | c.5299G= (p.Ala1767=) c.1-43730G= (n.1-43730G=) c.4555G= (p.Ala1519=) c.5101G= (p.Ala1701=) c.4918G= (p.Ala1640=) c.4639G= (p.Ala1547=) c.3682G= (p.Ala1228=) c.3673G= (p.Ala1225=) | |
5 | g.37020848G>T | CA359488345 | NIPBL | c.5299G>T (p.Ala1767Ser) c.1-43730G>T (n.1-43730G>T) c.4555G>T (p.Ala1519Ser) c.5101G>T (p.Ala1701Ser) c.4918G>T (p.Ala1640Ser) c.4639G>T (p.Ala1547Ser) c.3682G>T (p.Ala1228Ser) c.3673G>T (p.Ala1225Ser) | dbSNP gnomAD v4 |
5 | g.37020849C>A | CA359488348 | NIPBL | c.5300C>A (p.Ala1767Asp) c.1-43729C>A (n.1-43729C>A) c.4556C>A (p.Ala1519Asp) c.5102C>A (p.Ala1701Asp) c.4919C>A (p.Ala1640Asp) c.4640C>A (p.Ala1547Asp) c.3683C>A (p.Ala1228Asp) c.3674C>A (p.Ala1225Asp) | |
5 | g.37020849C>G | CA359488349 | NIPBL | c.5300C>G (p.Ala1767Gly) c.1-43729C>G (n.1-43729C>G) c.4556C>G (p.Ala1519Gly) c.5102C>G (p.Ala1701Gly) c.4919C>G (p.Ala1640Gly) c.4640C>G (p.Ala1547Gly) c.3683C>G (p.Ala1228Gly) c.3674C>G (p.Ala1225Gly) | |
5 | g.37020849C>T | CA359488350 | NIPBL | c.5300C>T (p.Ala1767Val) c.1-43729C>T (n.1-43729C>T) c.4556C>T (p.Ala1519Val) c.5102C>T (p.Ala1701Val) c.4919C>T (p.Ala1640Val) c.4640C>T (p.Ala1547Val) c.3683C>T (p.Ala1228Val) c.3674C>T (p.Ala1225Val) | |
5 | g.37020850C>A | CA443905225 | NIPBL | c.5301C>A (p.Ala1767=) c.1-43728C>A (n.1-43728C>A) c.4557C>A (p.Ala1519=) c.5103C>A (p.Ala1701=) c.4920C>A (p.Ala1640=) c.4641C>A (p.Ala1547=) c.3684C>A (p.Ala1228=) c.3675C>A (p.Ala1225=) | |
5 | g.37020850C= | CA1539584770 | NIPBL | c.5301C= (p.Ala1767=) c.1-43728C= (n.1-43728C=) c.4557C= (p.Ala1519=) c.5103C= (p.Ala1701=) c.4920C= (p.Ala1640=) c.4641C= (p.Ala1547=) c.3684C= (p.Ala1228=) c.3675C= (p.Ala1225=) | |
5 | g.37020850C>G | CA443905227 | NIPBL | c.5301C>G (p.Ala1767=) c.1-43728C>G (n.1-43728C>G) c.4557C>G (p.Ala1519=) c.5103C>G (p.Ala1701=) c.4920C>G (p.Ala1640=) c.4641C>G (p.Ala1547=) c.3684C>G (p.Ala1228=) c.3675C>G (p.Ala1225=) | gnomAD v4 |
5 | g.37020850C>T | CA443905226 | NIPBL | c.5301C>T (p.Ala1767=) c.1-43728C>T (n.1-43728C>T) c.4557C>T (p.Ala1519=) c.5103C>T (p.Ala1701=) c.4920C>T (p.Ala1640=) c.4641C>T (p.Ala1547=) c.3684C>T (p.Ala1228=) c.3675C>T (p.Ala1225=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.37020851C>A | CA359488352 | NIPBL | c.5302C>A (p.Gln1768Lys) c.1-43727C>A (n.1-43727C>A) c.4558C>A (p.Gln1520Lys) c.5104C>A (p.Gln1702Lys) c.4921C>A (p.Gln1641Lys) c.4642C>A (p.Gln1548Lys) c.3685C>A (p.Gln1229Lys) c.3676C>A (p.Gln1226Lys) | |
5 | g.37020851C>G | CA359488354 | NIPBL | c.5302C>G (p.Gln1768Glu) c.1-43727C>G (n.1-43727C>G) c.4558C>G (p.Gln1520Glu) c.5104C>G (p.Gln1702Glu) c.4921C>G (p.Gln1641Glu) c.4642C>G (p.Gln1548Glu) c.3685C>G (p.Gln1229Glu) c.3676C>G (p.Gln1226Glu) | |
5 | g.37020851C>T | CA359488358 | NIPBL | c.5302C>T (p.Gln1768Ter) c.1-43727C>T (n.1-43727C>T) c.4558C>T (p.Gln1520Ter) c.5104C>T (p.Gln1702Ter) c.4921C>T (p.Gln1641Ter) c.4642C>T (p.Gln1548Ter) c.3685C>T (p.Gln1229Ter) c.3676C>T (p.Gln1226Ter) | |
5 | g.37020852A= | CA1539584792 | NIPBL | c.5303A= (p.Gln1768=) c.1-43726A= (n.1-43726A=) c.4559A= (p.Gln1520=) c.5105A= (p.Gln1702=) c.4922A= (p.Gln1641=) c.4643A= (p.Gln1548=) c.3686A= (p.Gln1229=) c.3677A= (p.Gln1226=) | |
5 | g.37020852A>C | CA359488361 | NIPBL | c.5303A>C (p.Gln1768Pro) c.1-43726A>C (n.1-43726A>C) c.4559A>C (p.Gln1520Pro) c.5105A>C (p.Gln1702Pro) c.4922A>C (p.Gln1641Pro) c.4643A>C (p.Gln1548Pro) c.3686A>C (p.Gln1229Pro) c.3677A>C (p.Gln1226Pro) | dbSNP gnomAD v2 |
5 | g.37020852A>G | CA359488359 | NIPBL | c.5303A>G (p.Gln1768Arg) c.1-43726A>G (n.1-43726A>G) c.4559A>G (p.Gln1520Arg) c.5105A>G (p.Gln1702Arg) c.4922A>G (p.Gln1641Arg) c.4643A>G (p.Gln1548Arg) c.3686A>G (p.Gln1229Arg) c.3677A>G (p.Gln1226Arg) | |
5 | g.37020852A>T | CA359488360 | NIPBL | c.5303A>T (p.Gln1768Leu) c.1-43726A>T (n.1-43726A>T) c.4559A>T (p.Gln1520Leu) c.5105A>T (p.Gln1702Leu) c.4922A>T (p.Gln1641Leu) c.4643A>T (p.Gln1548Leu) c.3686A>T (p.Gln1229Leu) c.3677A>T (p.Gln1226Leu) | |
5 | g.37020853G>A | CA443905228 | NIPBL | c.5304G>A (p.Gln1768=) c.1-43725G>A (n.1-43725G>A) c.4560G>A (p.Gln1520=) c.5106G>A (p.Gln1702=) c.4923G>A (p.Gln1641=) c.4644G>A (p.Gln1548=) c.3687G>A (p.Gln1229=) c.3678G>A (p.Gln1226=) | |
5 | g.37020853G>C | CA359488362 | NIPBL | c.5304G>C (p.Gln1768His) c.1-43725G>C (n.1-43725G>C) c.4560G>C (p.Gln1520His) c.5106G>C (p.Gln1702His) c.4923G>C (p.Gln1641His) c.4644G>C (p.Gln1548His) c.3687G>C (p.Gln1229His) c.3678G>C (p.Gln1226His) | |
5 | g.37020853G>T | CA359488363 | NIPBL | c.5304G>T (p.Gln1768His) c.1-43725G>T (n.1-43725G>T) c.4560G>T (p.Gln1520His) c.5106G>T (p.Gln1702His) c.4923G>T (p.Gln1641His) c.4644G>T (p.Gln1548His) c.3687G>T (p.Gln1229His) c.3678G>T (p.Gln1226His) | |
5 | g.37020854A>C | CA359488365 | NIPBL | c.5305A>C (p.Ser1769Arg) c.1-43724A>C (n.1-43724A>C) c.4561A>C (p.Ser1521Arg) c.5107A>C (p.Ser1703Arg) c.4924A>C (p.Ser1642Arg) c.4645A>C (p.Ser1549Arg) c.3688A>C (p.Ser1230Arg) c.3679A>C (p.Ser1227Arg) | |
5 | g.37020854A>G | CA359488367 | NIPBL | c.5305A>G (p.Ser1769Gly) c.1-43724A>G (n.1-43724A>G) c.4561A>G (p.Ser1521Gly) c.5107A>G (p.Ser1703Gly) c.4924A>G (p.Ser1642Gly) c.4645A>G (p.Ser1549Gly) c.3688A>G (p.Ser1230Gly) c.3679A>G (p.Ser1227Gly) | |
5 | g.37020854A>T | CA359488369 | NIPBL | c.5305A>T (p.Ser1769Cys) c.1-43724A>T (n.1-43724A>T) c.4561A>T (p.Ser1521Cys) c.5107A>T (p.Ser1703Cys) c.4924A>T (p.Ser1642Cys) c.4645A>T (p.Ser1549Cys) c.3688A>T (p.Ser1230Cys) c.3679A>T (p.Ser1227Cys) | |
5 | g.37020855G>A | CA3236742 | NIPBL | c.5306G>A (p.Ser1769Asn) c.1-43723G>A (n.1-43723G>A) c.4562G>A (p.Ser1521Asn) c.5108G>A (p.Ser1703Asn) c.4925G>A (p.Ser1642Asn) c.4646G>A (p.Ser1549Asn) c.3689G>A (p.Ser1230Asn) c.3680G>A (p.Ser1227Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.37020855G>C | CA359488371 | NIPBL | c.5306G>C (p.Ser1769Thr) c.1-43723G>C (n.1-43723G>C) c.4562G>C (p.Ser1521Thr) c.5108G>C (p.Ser1703Thr) c.4925G>C (p.Ser1642Thr) c.4646G>C (p.Ser1549Thr) c.3689G>C (p.Ser1230Thr) c.3680G>C (p.Ser1227Thr) | |
5 | g.37020855G= | CA1539584796 | NIPBL | c.5306G= (p.Ser1769=) c.1-43723G= (n.1-43723G=) c.4562G= (p.Ser1521=) c.5108G= (p.Ser1703=) c.4925G= (p.Ser1642=) c.4646G= (p.Ser1549=) c.3689G= (p.Ser1230=) c.3680G= (p.Ser1227=) | |
5 | g.37020855G>T | CA359488372 | NIPBL | c.5306G>T (p.Ser1769Ile) c.1-43723G>T (n.1-43723G>T) c.4562G>T (p.Ser1521Ile) c.5108G>T (p.Ser1703Ile) c.4925G>T (p.Ser1642Ile) c.4646G>T (p.Ser1549Ile) c.3689G>T (p.Ser1230Ile) c.3680G>T (p.Ser1227Ile) | |
5 | g.37020856C>A | CA359488375 | NIPBL | c.5307C>A (p.Ser1769Arg) c.1-43722C>A (n.1-43722C>A) c.4563C>A (p.Ser1521Arg) c.5109C>A (p.Ser1703Arg) c.4926C>A (p.Ser1642Arg) c.4647C>A (p.Ser1549Arg) c.3690C>A (p.Ser1230Arg) c.3681C>A (p.Ser1227Arg) | |
5 | g.37020856C= | CA1539584797 | NIPBL | c.5307C= (p.Ser1769=) c.1-43722C= (n.1-43722C=) c.4563C= (p.Ser1521=) c.5109C= (p.Ser1703=) c.4926C= (p.Ser1642=) c.4647C= (p.Ser1549=) c.3690C= (p.Ser1230=) c.3681C= (p.Ser1227=) | |
5 | g.37020856C>G | CA359488376 | NIPBL | c.5307C>G (p.Ser1769Arg) c.1-43722C>G (n.1-43722C>G) c.4563C>G (p.Ser1521Arg) c.5109C>G (p.Ser1703Arg) c.4926C>G (p.Ser1642Arg) c.4647C>G (p.Ser1549Arg) c.3690C>G (p.Ser1230Arg) c.3681C>G (p.Ser1227Arg) | |
5 | g.37020856C>T | CA443905229 | NIPBL | c.5307C>T (p.Ser1769=) c.1-43722C>T (n.1-43722C>T) c.4563C>T (p.Ser1521=) c.5109C>T (p.Ser1703=) c.4926C>T (p.Ser1642=) c.4647C>T (p.Ser1549=) c.3690C>T (p.Ser1230=) c.3681C>T (p.Ser1227=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37020857T>A | CA359488379 | NIPBL | c.5308T>A (p.Phe1770Ile) c.1-43721T>A (n.1-43721T>A) c.4564T>A (p.Phe1522Ile) c.5110T>A (p.Phe1704Ile) c.4927T>A (p.Phe1643Ile) c.4648T>A (p.Phe1550Ile) c.3691T>A (p.Phe1231Ile) c.3682T>A (p.Phe1228Ile) | |
5 | g.37020857T>C | CA359488381 | NIPBL | c.5308T>C (p.Phe1770Leu) c.1-43721T>C (n.1-43721T>C) c.4564T>C (p.Phe1522Leu) c.5110T>C (p.Phe1704Leu) c.4927T>C (p.Phe1643Leu) c.4648T>C (p.Phe1550Leu) c.3691T>C (p.Phe1231Leu) c.3682T>C (p.Phe1228Leu) | |
5 | g.37020857T>G | CA359488385 | NIPBL | c.5308T>G (p.Phe1770Val) c.1-43721T>G (n.1-43721T>G) c.4564T>G (p.Phe1522Val) c.5110T>G (p.Phe1704Val) c.4927T>G (p.Phe1643Val) c.4648T>G (p.Phe1550Val) c.3691T>G (p.Phe1231Val) c.3682T>G (p.Phe1228Val) | |
5 | g.37020858T>A | CA359488394 | NIPBL | c.5309T>A (p.Phe1770Tyr) c.1-43720T>A (n.1-43720T>A) c.4565T>A (p.Phe1522Tyr) c.5111T>A (p.Phe1704Tyr) c.4928T>A (p.Phe1643Tyr) c.4649T>A (p.Phe1550Tyr) c.3692T>A (p.Phe1231Tyr) c.3683T>A (p.Phe1228Tyr) | |
5 | g.37020858T>C | CA359488404 | NIPBL | c.5309T>C (p.Phe1770Ser) c.1-43720T>C (n.1-43720T>C) c.4565T>C (p.Phe1522Ser) c.5111T>C (p.Phe1704Ser) c.4928T>C (p.Phe1643Ser) c.4649T>C (p.Phe1550Ser) c.3692T>C (p.Phe1231Ser) c.3683T>C (p.Phe1228Ser) | gnomAD v4 |
5 | g.37020858T>G | CA359488401 | NIPBL | c.5309T>G (p.Phe1770Cys) c.1-43720T>G (n.1-43720T>G) c.4565T>G (p.Phe1522Cys) c.5111T>G (p.Phe1704Cys) c.4928T>G (p.Phe1643Cys) c.4649T>G (p.Phe1550Cys) c.3692T>G (p.Phe1231Cys) c.3683T>G (p.Phe1228Cys) | |
5 | g.37020859T>A | CA359488410 | NIPBL | c.5310T>A (p.Phe1770Leu) c.1-43719T>A (n.1-43719T>A) c.4566T>A (p.Phe1522Leu) c.5112T>A (p.Phe1704Leu) c.4929T>A (p.Phe1643Leu) c.4650T>A (p.Phe1550Leu) c.3693T>A (p.Phe1231Leu) c.3684T>A (p.Phe1228Leu) | |
5 | g.37020859T>C | CA443905230 | NIPBL | c.5310T>C (p.Phe1770=) c.1-43719T>C (n.1-43719T>C) c.4566T>C (p.Phe1522=) c.5112T>C (p.Phe1704=) c.4929T>C (p.Phe1643=) c.4650T>C (p.Phe1550=) c.3693T>C (p.Phe1231=) c.3684T>C (p.Phe1228=) | |
5 | g.37020859T>G | CA359488412 | NIPBL | c.5310T>G (p.Phe1770Leu) c.1-43719T>G (n.1-43719T>G) c.4566T>G (p.Phe1522Leu) c.5112T>G (p.Phe1704Leu) c.4929T>G (p.Phe1643Leu) c.4650T>G (p.Phe1550Leu) c.3693T>G (p.Phe1231Leu) c.3684T>G (p.Phe1228Leu) | |
5 | g.37020860G>A | CA359488416 | NIPBL | c.5311G>A (p.Asp1771Asn) c.1-43718G>A (n.1-43718G>A) c.4567G>A (p.Asp1523Asn) c.5113G>A (p.Asp1705Asn) c.4930G>A (p.Asp1644Asn) c.4651G>A (p.Asp1551Asn) c.3694G>A (p.Asp1232Asn) c.3685G>A (p.Asp1229Asn) | |
5 | g.37020860G>C | CA359488418 | NIPBL | c.5311G>C (p.Asp1771His) c.1-43718G>C (n.1-43718G>C) c.4567G>C (p.Asp1523His) c.5113G>C (p.Asp1705His) c.4930G>C (p.Asp1644His) c.4651G>C (p.Asp1551His) c.3694G>C (p.Asp1232His) c.3685G>C (p.Asp1229His) | |
5 | g.37020860G>T | CA359488419 | NIPBL | c.5311G>T (p.Asp1771Tyr) c.1-43718G>T (n.1-43718G>T) c.4567G>T (p.Asp1523Tyr) c.5113G>T (p.Asp1705Tyr) c.4930G>T (p.Asp1644Tyr) c.4651G>T (p.Asp1551Tyr) c.3694G>T (p.Asp1232Tyr) c.3685G>T (p.Asp1229Tyr) | |
5 | g.37020861A>C | CA359488420 | NIPBL | c.5312A>C (p.Asp1771Ala) c.1-43717A>C (n.1-43717A>C) c.4568A>C (p.Asp1523Ala) c.5114A>C (p.Asp1705Ala) c.4931A>C (p.Asp1644Ala) c.4652A>C (p.Asp1551Ala) c.3695A>C (p.Asp1232Ala) c.3686A>C (p.Asp1229Ala) | dbSNP |
5 | g.37020861A>G | CA359488422 | NIPBL | c.5312A>G (p.Asp1771Gly) c.1-43717A>G (n.1-43717A>G) c.4568A>G (p.Asp1523Gly) c.5114A>G (p.Asp1705Gly) c.4931A>G (p.Asp1644Gly) c.4652A>G (p.Asp1551Gly) c.3695A>G (p.Asp1232Gly) c.3686A>G (p.Asp1229Gly) | |
5 | g.37020861A>T | CA359488424 | NIPBL | c.5312A>T (p.Asp1771Val) c.1-43717A>T (n.1-43717A>T) c.4568A>T (p.Asp1523Val) c.5114A>T (p.Asp1705Val) c.4931A>T (p.Asp1644Val) c.4652A>T (p.Asp1551Val) c.3695A>T (p.Asp1232Val) c.3686A>T (p.Asp1229Val) | |
5 | g.37020862T>A | CA359488430 | NIPBL | c.5313T>A (p.Asp1771Glu) c.1-43716T>A (n.1-43716T>A) c.4569T>A (p.Asp1523Glu) c.5115T>A (p.Asp1705Glu) c.4932T>A (p.Asp1644Glu) c.4653T>A (p.Asp1551Glu) c.3696T>A (p.Asp1232Glu) c.3687T>A (p.Asp1229Glu) | |
5 | g.37020862T>C | CA443905231 | NIPBL | c.5313T>C (p.Asp1771=) c.1-43716T>C (n.1-43716T>C) c.4569T>C (p.Asp1523=) c.5115T>C (p.Asp1705=) c.4932T>C (p.Asp1644=) c.4653T>C (p.Asp1551=) c.3696T>C (p.Asp1232=) c.3687T>C (p.Asp1229=) | |
5 | g.37020862T>G | CA359488433 | NIPBL | c.5313T>G (p.Asp1771Glu) c.1-43716T>G (n.1-43716T>G) c.4569T>G (p.Asp1523Glu) c.5115T>G (p.Asp1705Glu) c.4932T>G (p.Asp1644Glu) c.4653T>G (p.Asp1551Glu) c.3696T>G (p.Asp1232Glu) c.3687T>G (p.Asp1229Glu) | |
5 | g.37020863A>C | CA359488438 | NIPBL | c.5314A>C (p.Ile1772Leu) c.1-43715A>C (n.1-43715A>C) c.4570A>C (p.Ile1524Leu) c.5116A>C (p.Ile1706Leu) c.4933A>C (p.Ile1645Leu) c.4654A>C (p.Ile1552Leu) c.3697A>C (p.Ile1233Leu) c.3688A>C (p.Ile1230Leu) | |
5 | g.37020863A>G | CA359488448 | NIPBL | c.5314A>G (p.Ile1772Val) c.1-43715A>G (n.1-43715A>G) c.4570A>G (p.Ile1524Val) c.5116A>G (p.Ile1706Val) c.4933A>G (p.Ile1645Val) c.4654A>G (p.Ile1552Val) c.3697A>G (p.Ile1233Val) c.3688A>G (p.Ile1230Val) | gnomAD v4 |
5 | g.37020863A>T | CA359488450 | NIPBL | c.5314A>T (p.Ile1772Phe) c.1-43715A>T (n.1-43715A>T) c.4570A>T (p.Ile1524Phe) c.5116A>T (p.Ile1706Phe) c.4933A>T (p.Ile1645Phe) c.4654A>T (p.Ile1552Phe) c.3697A>T (p.Ile1233Phe) c.3688A>T (p.Ile1230Phe) | COSMIC COSMIC |
5 | g.37020864T>A | CA359488459 | NIPBL | c.5315T>A (p.Ile1772Asn) c.1-43714T>A (n.1-43714T>A) c.4571T>A (p.Ile1524Asn) c.5117T>A (p.Ile1706Asn) c.4934T>A (p.Ile1645Asn) c.4655T>A (p.Ile1552Asn) c.3698T>A (p.Ile1233Asn) c.3689T>A (p.Ile1230Asn) | |
5 | g.37020864T>C | CA359488453 | NIPBL | c.5315T>C (p.Ile1772Thr) c.1-43714T>C (n.1-43714T>C) c.4571T>C (p.Ile1524Thr) c.5117T>C (p.Ile1706Thr) c.4934T>C (p.Ile1645Thr) c.4655T>C (p.Ile1552Thr) c.3698T>C (p.Ile1233Thr) c.3689T>C (p.Ile1230Thr) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37020864T>G | CA359488456 | NIPBL | c.5315T>G (p.Ile1772Ser) c.1-43714T>G (n.1-43714T>G) c.4571T>G (p.Ile1524Ser) c.5117T>G (p.Ile1706Ser) c.4934T>G (p.Ile1645Ser) c.4655T>G (p.Ile1552Ser) c.3698T>G (p.Ile1233Ser) c.3689T>G (p.Ile1230Ser) | |
5 | g.37020864T= | CA1539584798 | NIPBL | c.5315T= (p.Ile1772=) c.1-43714T= (n.1-43714T=) c.4571T= (p.Ile1524=) c.5117T= (p.Ile1706=) c.4934T= (p.Ile1645=) c.4655T= (p.Ile1552=) c.3698T= (p.Ile1233=) c.3689T= (p.Ile1230=) | |
5 | g.37020865T>A | CA443905232 | NIPBL | c.5316T>A (p.Ile1772=) c.1-43713T>A (n.1-43713T>A) c.4572T>A (p.Ile1524=) c.5118T>A (p.Ile1706=) c.4935T>A (p.Ile1645=) c.4656T>A (p.Ile1552=) c.3699T>A (p.Ile1233=) c.3690T>A (p.Ile1230=) | |
5 | g.37020865T>C | CA443905233 | NIPBL | c.5316T>C (p.Ile1772=) c.1-43713T>C (n.1-43713T>C) c.4572T>C (p.Ile1524=) c.5118T>C (p.Ile1706=) c.4935T>C (p.Ile1645=) c.4656T>C (p.Ile1552=) c.3699T>C (p.Ile1233=) c.3690T>C (p.Ile1230=) | |
5 | g.37020865T>G | CA359488462 | NIPBL | c.5316T>G (p.Ile1772Met) c.1-43713T>G (n.1-43713T>G) c.4572T>G (p.Ile1524Met) c.5118T>G (p.Ile1706Met) c.4935T>G (p.Ile1645Met) c.4656T>G (p.Ile1552Met) c.3699T>G (p.Ile1233Met) c.3690T>G (p.Ile1230Met) | |
5 | g.37020866T>A | CA359488467 | NIPBL | c.5317T>A (p.Tyr1773Asn) c.1-43712T>A (n.1-43712T>A) c.4573T>A (p.Tyr1525Asn) c.5119T>A (p.Tyr1707Asn) c.4936T>A (p.Tyr1646Asn) c.4657T>A (p.Tyr1553Asn) c.3700T>A (p.Tyr1234Asn) c.3691T>A (p.Tyr1231Asn) | |
5 | g.37020866T>C | CA359488471 | NIPBL | c.5317T>C (p.Tyr1773His) c.1-43712T>C (n.1-43712T>C) c.4573T>C (p.Tyr1525His) c.5119T>C (p.Tyr1707His) c.4936T>C (p.Tyr1646His) c.4657T>C (p.Tyr1553His) c.3700T>C (p.Tyr1234His) c.3691T>C (p.Tyr1231His) | |
5 | g.37020866T>G | CA359488474 | NIPBL | c.5317T>G (p.Tyr1773Asp) c.1-43712T>G (n.1-43712T>G) c.4573T>G (p.Tyr1525Asp) c.5119T>G (p.Tyr1707Asp) c.4936T>G (p.Tyr1646Asp) c.4657T>G (p.Tyr1553Asp) c.3700T>G (p.Tyr1234Asp) c.3691T>G (p.Tyr1231Asp) | |
5 | g.37020867A>C | CA359488478 | NIPBL | c.5318A>C (p.Tyr1773Ser) c.1-43711A>C (n.1-43711A>C) c.4574A>C (p.Tyr1525Ser) c.5120A>C (p.Tyr1707Ser) c.4937A>C (p.Tyr1646Ser) c.4658A>C (p.Tyr1553Ser) c.3701A>C (p.Tyr1234Ser) c.3692A>C (p.Tyr1231Ser) | |
5 | g.37020867A>G | CA359488481 | NIPBL | c.5318A>G (p.Tyr1773Cys) c.1-43711A>G (n.1-43711A>G) c.4574A>G (p.Tyr1525Cys) c.5120A>G (p.Tyr1707Cys) c.4937A>G (p.Tyr1646Cys) c.4658A>G (p.Tyr1553Cys) c.3701A>G (p.Tyr1234Cys) c.3692A>G (p.Tyr1231Cys) | gnomAD v4 |
5 | g.37020867A>T | CA359488482 | NIPBL | c.5318A>T (p.Tyr1773Phe) c.1-43711A>T (n.1-43711A>T) c.4574A>T (p.Tyr1525Phe) c.5120A>T (p.Tyr1707Phe) c.4937A>T (p.Tyr1646Phe) c.4658A>T (p.Tyr1553Phe) c.3701A>T (p.Tyr1234Phe) c.3692A>T (p.Tyr1231Phe) | |
5 | g.37020868T>A | CA359488484 | NIPBL | c.5319T>A (p.Tyr1773Ter) c.1-43710T>A (n.1-43710T>A) c.4575T>A (p.Tyr1525Ter) c.5121T>A (p.Tyr1707Ter) c.4938T>A (p.Tyr1646Ter) c.4659T>A (p.Tyr1553Ter) c.3702T>A (p.Tyr1234Ter) c.3693T>A (p.Tyr1231Ter) | |
5 | g.37020868T>C | CA443905234 | NIPBL | c.5319T>C (p.Tyr1773=) c.1-43710T>C (n.1-43710T>C) c.4575T>C (p.Tyr1525=) c.5121T>C (p.Tyr1707=) c.4938T>C (p.Tyr1646=) c.4659T>C (p.Tyr1553=) c.3702T>C (p.Tyr1234=) c.3693T>C (p.Tyr1231=) | gnomAD v4 |
5 | g.37020868T>G | CA359488487 | NIPBL | c.5319T>G (p.Tyr1773Ter) c.1-43710T>G (n.1-43710T>G) c.4575T>G (p.Tyr1525Ter) c.5121T>G (p.Tyr1707Ter) c.4938T>G (p.Tyr1646Ter) c.4659T>G (p.Tyr1553Ter) c.3702T>G (p.Tyr1234Ter) c.3693T>G (p.Tyr1231Ter) | |
5 | g.37020869T>A | CA359488489 | NIPBL | c.5320T>A (p.Leu1774Met) c.1-43709T>A (n.1-43709T>A) c.4576T>A (p.Leu1526Met) c.5122T>A (p.Leu1708Met) c.4939T>A (p.Leu1647Met) c.4660T>A (p.Leu1554Met) c.3703T>A (p.Leu1235Met) c.3694T>A (p.Leu1232Met) | |
5 | g.37020869T>C | CA443905235 | NIPBL | c.5320T>C (p.Leu1774=) c.1-43709T>C (n.1-43709T>C) c.4576T>C (p.Leu1526=) c.5122T>C (p.Leu1708=) c.4939T>C (p.Leu1647=) c.4660T>C (p.Leu1554=) c.3703T>C (p.Leu1235=) c.3694T>C (p.Leu1232=) | |
5 | g.37020869T>G | CA359488490 | NIPBL | c.5320T>G (p.Leu1774Val) c.1-43709T>G (n.1-43709T>G) c.4576T>G (p.Leu1526Val) c.5122T>G (p.Leu1708Val) c.4939T>G (p.Leu1647Val) c.4660T>G (p.Leu1554Val) c.3703T>G (p.Leu1235Val) c.3694T>G (p.Leu1232Val) | |
5 | g.37020870T>A | CA359488491 | NIPBL | c.5321T>A (p.Leu1774Ter) c.1-43708T>A (n.1-43708T>A) c.4577T>A (p.Leu1526Ter) c.5123T>A (p.Leu1708Ter) c.4940T>A (p.Leu1647Ter) c.4661T>A (p.Leu1554Ter) c.3704T>A (p.Leu1235Ter) c.3695T>A (p.Leu1232Ter) | |
5 | g.37020870T>C | CA359488493 | NIPBL | c.5321T>C (p.Leu1774Ser) c.1-43708T>C (n.1-43708T>C) c.4577T>C (p.Leu1526Ser) c.5123T>C (p.Leu1708Ser) c.4940T>C (p.Leu1647Ser) c.4661T>C (p.Leu1554Ser) c.3704T>C (p.Leu1235Ser) c.3695T>C (p.Leu1232Ser) | |
5 | g.37020870T>G | CA359488492 | NIPBL | c.5321T>G (p.Leu1774Trp) c.1-43708T>G (n.1-43708T>G) c.4577T>G (p.Leu1526Trp) c.5123T>G (p.Leu1708Trp) c.4940T>G (p.Leu1647Trp) c.4661T>G (p.Leu1554Trp) c.3704T>G (p.Leu1235Trp) c.3695T>G (p.Leu1232Trp) | |
5 | g.37020871G>A | CA443905236 | NIPBL | c.5322G>A (p.Leu1774=) c.1-43707G>A (n.1-43707G>A) c.4578G>A (p.Leu1526=) c.5124G>A (p.Leu1708=) c.4941G>A (p.Leu1647=) c.4662G>A (p.Leu1554=) c.3705G>A (p.Leu1235=) c.3696G>A (p.Leu1232=) | |
5 | g.37020871G>C | CA359488496 | NIPBL | c.5322G>C (p.Leu1774Phe) c.1-43707G>C (n.1-43707G>C) c.4578G>C (p.Leu1526Phe) c.5124G>C (p.Leu1708Phe) c.4941G>C (p.Leu1647Phe) c.4662G>C (p.Leu1554Phe) c.3705G>C (p.Leu1235Phe) c.3696G>C (p.Leu1232Phe) | |
5 | g.37020871G>T | CA359488503 | NIPBL | c.5322G>T (p.Leu1774Phe) c.1-43707G>T (n.1-43707G>T) c.4578G>T (p.Leu1526Phe) c.5124G>T (p.Leu1708Phe) c.4941G>T (p.Leu1647Phe) c.4662G>T (p.Leu1554Phe) c.3705G>T (p.Leu1235Phe) c.3696G>T (p.Leu1232Phe) | gnomAD v4 |
5 | g.37020872A>C | CA359488506 | NIPBL | c.5323A>C (p.Thr1775Pro) c.1-43706A>C (n.1-43706A>C) c.4579A>C (p.Thr1527Pro) c.5125A>C (p.Thr1709Pro) c.4942A>C (p.Thr1648Pro) c.4663A>C (p.Thr1555Pro) c.3706A>C (p.Thr1236Pro) c.3697A>C (p.Thr1233Pro) | |
5 | g.37020872A>G | CA359488510 | NIPBL | c.5323A>G (p.Thr1775Ala) c.1-43706A>G (n.1-43706A>G) c.4579A>G (p.Thr1527Ala) c.5125A>G (p.Thr1709Ala) c.4942A>G (p.Thr1648Ala) c.4663A>G (p.Thr1555Ala) c.3706A>G (p.Thr1236Ala) c.3697A>G (p.Thr1233Ala) | |
5 | g.37020872A>T | CA359488508 | NIPBL | c.5323A>T (p.Thr1775Ser) c.1-43706A>T (n.1-43706A>T) c.4579A>T (p.Thr1527Ser) c.5125A>T (p.Thr1709Ser) c.4942A>T (p.Thr1648Ser) c.4663A>T (p.Thr1555Ser) c.3706A>T (p.Thr1236Ser) c.3697A>T (p.Thr1233Ser) | |
5 | g.37020873C>A | CA359488512 | NIPBL | c.5324C>A (p.Thr1775Lys) c.1-43705C>A (n.1-43705C>A) c.4580C>A (p.Thr1527Lys) c.5126C>A (p.Thr1709Lys) c.4943C>A (p.Thr1648Lys) c.4664C>A (p.Thr1555Lys) c.3707C>A (p.Thr1236Lys) c.3698C>A (p.Thr1233Lys) | |
5 | g.37020873C>G | CA359488514 | NIPBL | c.5324C>G (p.Thr1775Arg) c.1-43705C>G (n.1-43705C>G) c.4580C>G (p.Thr1527Arg) c.5126C>G (p.Thr1709Arg) c.4943C>G (p.Thr1648Arg) c.4664C>G (p.Thr1555Arg) c.3707C>G (p.Thr1236Arg) c.3698C>G (p.Thr1233Arg) | |
5 | g.37020873C>T | CA359488516 | NIPBL | c.5324C>T (p.Thr1775Ile) c.1-43705C>T (n.1-43705C>T) c.4580C>T (p.Thr1527Ile) c.5126C>T (p.Thr1709Ile) c.4943C>T (p.Thr1648Ile) c.4664C>T (p.Thr1555Ile) c.3707C>T (p.Thr1236Ile) c.3698C>T (p.Thr1233Ile) | |
5 | g.37020874A>C | CA443905237 | NIPBL | c.5325A>C (p.Thr1775=) c.1-43704A>C (n.1-43704A>C) c.4581A>C (p.Thr1527=) c.5127A>C (p.Thr1709=) c.4944A>C (p.Thr1648=) c.4665A>C (p.Thr1555=) c.3708A>C (p.Thr1236=) c.3699A>C (p.Thr1233=) | |
5 | g.37020874A>G | CA443905238 | NIPBL | c.5325A>G (p.Thr1775=) c.1-43704A>G (n.1-43704A>G) c.4581A>G (p.Thr1527=) c.5127A>G (p.Thr1709=) c.4944A>G (p.Thr1648=) c.4665A>G (p.Thr1555=) c.3708A>G (p.Thr1236=) c.3699A>G (p.Thr1233=) | |
5 | g.37020874A>T | CA443905239 | NIPBL | c.5325A>T (p.Thr1775=) c.1-43704A>T (n.1-43704A>T) c.4581A>T (p.Thr1527=) c.5127A>T (p.Thr1709=) c.4944A>T (p.Thr1648=) c.4665A>T (p.Thr1555=) c.3708A>T (p.Thr1236=) c.3699A>T (p.Thr1233=) | |
5 | g.37020875C>A | CA359488519 | NIPBL | c.5326C>A (p.Gln1776Lys) c.1-43703C>A (n.1-43703C>A) c.4582C>A (p.Gln1528Lys) c.5128C>A (p.Gln1710Lys) c.4945C>A (p.Gln1649Lys) c.4666C>A (p.Gln1556Lys) c.3709C>A (p.Gln1237Lys) c.3700C>A (p.Gln1234Lys) | gnomAD v4 |
5 | g.37020875C>G | CA359488523 | NIPBL | c.5326C>G (p.Gln1776Glu) c.1-43703C>G (n.1-43703C>G) c.4582C>G (p.Gln1528Glu) c.5128C>G (p.Gln1710Glu) c.4945C>G (p.Gln1649Glu) c.4666C>G (p.Gln1556Glu) c.3709C>G (p.Gln1237Glu) c.3700C>G (p.Gln1234Glu) | |
5 | g.37020875C>T | CA359488524 | NIPBL | c.5326C>T (p.Gln1776Ter) c.1-43703C>T (n.1-43703C>T) c.4582C>T (p.Gln1528Ter) c.5128C>T (p.Gln1710Ter) c.4945C>T (p.Gln1649Ter) c.4666C>T (p.Gln1556Ter) c.3709C>T (p.Gln1237Ter) c.3700C>T (p.Gln1234Ter) | |
5 | g.37020876A= | CA1539584809 | NIPBL | c.5327A= (p.Gln1776=) c.1-43702A= (n.1-43702A=) c.4583A= (p.Gln1528=) c.5129A= (p.Gln1710=) c.4946A= (p.Gln1649=) c.4667A= (p.Gln1556=) c.3710A= (p.Gln1237=) c.3701A= (p.Gln1234=) | |
5 | g.37020876A>C | CA359488525 | NIPBL | c.5327A>C (p.Gln1776Pro) c.1-43702A>C (n.1-43702A>C) c.4583A>C (p.Gln1528Pro) c.5129A>C (p.Gln1710Pro) c.4946A>C (p.Gln1649Pro) c.4667A>C (p.Gln1556Pro) c.3710A>C (p.Gln1237Pro) c.3701A>C (p.Gln1234Pro) | |
5 | g.37020876A>G | CA359488526 | NIPBL | c.5327A>G (p.Gln1776Arg) c.1-43702A>G (n.1-43702A>G) c.4583A>G (p.Gln1528Arg) c.5129A>G (p.Gln1710Arg) c.4946A>G (p.Gln1649Arg) c.4667A>G (p.Gln1556Arg) c.3710A>G (p.Gln1237Arg) c.3701A>G (p.Gln1234Arg) | ClinVar |
5 | g.37020876A>T | CA272133 | NIPBL | c.5327A>T (p.Gln1776Leu) c.1-43702A>T (n.1-43702A>T) c.4583A>T (p.Gln1528Leu) c.5129A>T (p.Gln1710Leu) c.4946A>T (p.Gln1649Leu) c.4667A>T (p.Gln1556Leu) c.3710A>T (p.Gln1237Leu) c.3701A>T (p.Gln1234Leu) | ClinVar dbSNP |
5 | g.37020877G>A | CA443905240 | NIPBL | c.5328G>A (p.Gln1776=) c.1-43701G>A (n.1-43701G>A) c.4584G>A (p.Gln1528=) c.5130G>A (p.Gln1710=) c.4947G>A (p.Gln1649=) c.4668G>A (p.Gln1556=) c.3711G>A (p.Gln1237=) c.3702G>A (p.Gln1234=) | gnomAD v4 COSMIC COSMIC |
5 | g.37020877G>C | CA359488529 | NIPBL | c.5328G>C (p.Gln1776His) c.1-43701G>C (n.1-43701G>C) c.4584G>C (p.Gln1528His) c.5130G>C (p.Gln1710His) c.4947G>C (p.Gln1649His) c.4668G>C (p.Gln1556His) c.3711G>C (p.Gln1237His) c.3702G>C (p.Gln1234His) | |
5 | g.37020877G>T | CA359488531 | NIPBL | c.5328G>T (p.Gln1776His) c.1-43701G>T (n.1-43701G>T) c.4584G>T (p.Gln1528His) c.5130G>T (p.Gln1710His) c.4947G>T (p.Gln1649His) c.4668G>T (p.Gln1556His) c.3711G>T (p.Gln1237His) c.3702G>T (p.Gln1234His) | |
5 | g.37020878G>A | CA272136 | NIPBL | c.5328+1G>A (n.5328+1G>A) c.1-43700G>A (n.1-43700G>A) c.4584+1G>A (n.4584+1G>A) c.5130+1G>A (n.5130+1G>A) c.4947+1G>A (n.4947+1G>A) c.4668+1G>A (n.4668+1G>A) c.3711+1G>A (n.3711+1G>A) c.3702+1G>A (n.3702+1G>A) | ClinVar dbSNP gnomAD v4 |
5 | g.37020878G>C | CA359488546 | NIPBL | c.5328+1G>C (n.5328+1G>C) c.1-43700G>C (n.1-43700G>C) c.4584+1G>C (n.4584+1G>C) c.5130+1G>C (n.5130+1G>C) c.4947+1G>C (n.4947+1G>C) c.4668+1G>C (n.4668+1G>C) c.3711+1G>C (n.3711+1G>C) c.3702+1G>C (n.3702+1G>C) | |
5 | g.37020878G= | CA1539584826 | NIPBL | c.5328+1G= (n.5328+1G=) c.1-43700G= (n.1-43700G=) c.4584+1G= (n.4584+1G=) c.5130+1G= (n.5130+1G=) c.4947+1G= (n.4947+1G=) c.4668+1G= (n.4668+1G=) c.3711+1G= (n.3711+1G=) c.3702+1G= (n.3702+1G=) | |
5 | g.37020878G>T | CA359488540 | NIPBL | c.5328+1G>T (n.5328+1G>T) c.1-43700G>T (n.1-43700G>T) c.4584+1G>T (n.4584+1G>T) c.5130+1G>T (n.5130+1G>T) c.4947+1G>T (n.4947+1G>T) c.4668+1G>T (n.4668+1G>T) c.3711+1G>T (n.3711+1G>T) c.3702+1G>T (n.3702+1G>T) | |
5 | g.37020879T>A | CA359488557 | NIPBL | c.5328+2T>A (n.5328+2T>A) c.1-43699T>A (n.1-43699T>A) c.4584+2T>A (n.4584+2T>A) c.5130+2T>A (n.5130+2T>A) c.4947+2T>A (n.4947+2T>A) c.4668+2T>A (n.4668+2T>A) c.3711+2T>A (n.3711+2T>A) c.3702+2T>A (n.3702+2T>A) | |
5 | g.37020879T>C | CA359488560 | NIPBL | c.5328+2T>C (n.5328+2T>C) c.1-43699T>C (n.1-43699T>C) c.4584+2T>C (n.4584+2T>C) c.5130+2T>C (n.5130+2T>C) c.4947+2T>C (n.4947+2T>C) c.4668+2T>C (n.4668+2T>C) c.3711+2T>C (n.3711+2T>C) c.3702+2T>C (n.3702+2T>C) | |
5 | g.37020879T>G | CA359488561 | NIPBL | c.5328+2T>G (n.5328+2T>G) c.1-43699T>G (n.1-43699T>G) c.4584+2T>G (n.4584+2T>G) c.5130+2T>G (n.5130+2T>G) c.4947+2T>G (n.4947+2T>G) c.4668+2T>G (n.4668+2T>G) c.3711+2T>G (n.3711+2T>G) c.3702+2T>G (n.3702+2T>G) | |
5 | g.37020880A>G | CA2673553604 | NIPBL | c.5328+3A>G (n.5328+3A>G) c.1-43698A>G (n.1-43698A>G) c.4584+3A>G (n.4584+3A>G) c.5130+3A>G (n.5130+3A>G) c.4947+3A>G (n.4947+3A>G) c.4668+3A>G (n.4668+3A>G) c.3711+3A>G (n.3711+3A>G) c.3702+3A>G (n.3702+3A>G) | gnomAD v4 |
5 | g.37020885G>A | CA2673553607 | NIPBL | c.5328+8G>A (n.5328+8G>A) c.1-43693G>A (n.1-43693G>A) c.4584+8G>A (n.4584+8G>A) c.5130+8G>A (n.5130+8G>A) c.4947+8G>A (n.4947+8G>A) c.4668+8G>A (n.4668+8G>A) c.3711+8G>A (n.3711+8G>A) c.3702+8G>A (n.3702+8G>A) | gnomAD v4 |
5 | g.37020886G>A | CA1075105995 | NIPBL | c.5328+9G>A (n.5328+9G>A) c.1-43692G>A (n.1-43692G>A) c.4584+9G>A (n.4584+9G>A) c.5130+9G>A (n.5130+9G>A) c.4947+9G>A (n.4947+9G>A) c.4668+9G>A (n.4668+9G>A) c.3711+9G>A (n.3711+9G>A) c.3702+9G>A (n.3702+9G>A) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.37020886G= | CA1539584840 | NIPBL | c.5328+9G= (n.5328+9G=) c.1-43692G= (n.1-43692G=) c.4584+9G= (n.4584+9G=) c.5130+9G= (n.5130+9G=) c.4947+9G= (n.4947+9G=) c.4668+9G= (n.4668+9G=) c.3711+9G= (n.3711+9G=) c.3702+9G= (n.3702+9G=) | |
5 | g.37020886G>T | CA2578289467 | NIPBL | c.5328+9G>T (n.5328+9G>T) c.1-43692G>T (n.1-43692G>T) c.4584+9G>T (n.4584+9G>T) c.5130+9G>T (n.5130+9G>T) c.4947+9G>T (n.4947+9G>T) c.4668+9G>T (n.4668+9G>T) c.3711+9G>T (n.3711+9G>T) c.3702+9G>T (n.3702+9G>T) | gnomAD v4 |
5 | g.37020886_37020887del | CA2765898395 | NIPBL | c.5328+9_5328+10del (n.5328+9_5328+10del) c.1-43692_1-43691del (n.1-43692_1-43691del) c.4584+9_4584+10del (n.4584+9_4584+10del) c.5130+9_5130+10del (n.5130+9_5130+10del) c.4947+9_4947+10del (n.4947+9_4947+10del) c.4668+9_4668+10del (n.4668+9_4668+10del) c.3711+9_3711+10del (n.3711+9_3711+10del) c.3702+9_3702+10del (n.3702+9_3702+10del) | |
5 | g.37020887A>T | CA2740631466 | NIPBL | c.5328+10A>T (n.5328+10A>T) c.1-43691A>T (n.1-43691A>T) c.4584+10A>T (n.4584+10A>T) c.5130+10A>T (n.5130+10A>T) c.4947+10A>T (n.4947+10A>T) c.4668+10A>T (n.4668+10A>T) c.3711+10A>T (n.3711+10A>T) c.3702+10A>T (n.3702+10A>T) | |
5 | g.37020888T>A | CA2673553610 | NIPBL | c.5328+11T>A (n.5328+11T>A) c.1-43690T>A (n.1-43690T>A) c.4584+11T>A (n.4584+11T>A) c.5130+11T>A (n.5130+11T>A) c.4947+11T>A (n.4947+11T>A) c.4668+11T>A (n.4668+11T>A) c.3711+11T>A (n.3711+11T>A) c.3702+11T>A (n.3702+11T>A) | gnomAD v4 |
5 | g.37020888T>C | CA2578289468 | NIPBL | c.5328+11T>C (n.5328+11T>C) c.1-43690T>C (n.1-43690T>C) c.4584+11T>C (n.4584+11T>C) c.5130+11T>C (n.5130+11T>C) c.4947+11T>C (n.4947+11T>C) c.4668+11T>C (n.4668+11T>C) c.3711+11T>C (n.3711+11T>C) c.3702+11T>C (n.3702+11T>C) | |
5 | g.37020888_37020889insGC | CA2765898396 | NIPBL | c.5328+11_5328+12insGC (n.5328+11_5328+12insGC) c.1-43690_1-43689insGC (n.1-43690_1-43689insGC) c.4584+11_4584+12insGC (n.4584+11_4584+12insGC) c.5130+11_5130+12insGC (n.5130+11_5130+12insGC) c.4947+11_4947+12insGC (n.4947+11_4947+12insGC) c.4668+11_4668+12insGC (n.4668+11_4668+12insGC) c.3711+11_3711+12insGC (n.3711+11_3711+12insGC) c.3702+11_3702+12insGC (n.3702+11_3702+12insGC) | |
5 | g.37020889A>C | CA2765898397 | NIPBL | c.5328+12A>C (n.5328+12A>C) c.1-43689A>C (n.1-43689A>C) c.4584+12A>C (n.4584+12A>C) c.5130+12A>C (n.5130+12A>C) c.4947+12A>C (n.4947+12A>C) c.4668+12A>C (n.4668+12A>C) c.3711+12A>C (n.3711+12A>C) c.3702+12A>C (n.3702+12A>C) | |
5 | g.37020889A>G | CA2578289469 | NIPBL | c.5328+12A>G (n.5328+12A>G) c.1-43689A>G (n.1-43689A>G) c.4584+12A>G (n.4584+12A>G) c.5130+12A>G (n.5130+12A>G) c.4947+12A>G (n.4947+12A>G) c.4668+12A>G (n.4668+12A>G) c.3711+12A>G (n.3711+12A>G) c.3702+12A>G (n.3702+12A>G) | gnomAD v4 |
5 | g.37020891dup | CA2673553613 | NIPBL | c.5328+14dup (n.5328+14dup) c.1-43687dup (n.1-43687dup) c.4584+14dup (n.4584+14dup) c.5130+14dup (n.5130+14dup) c.4947+14dup (n.4947+14dup) c.4668+14dup (n.4668+14dup) c.3711+14dup (n.3711+14dup) c.3702+14dup (n.3702+14dup) | gnomAD v4 |
5 | g.37020892A>T | CA2578289471 | NIPBL | c.5328+15A>T (n.5328+15A>T) c.1-43686A>T (n.1-43686A>T) c.4584+15A>T (n.4584+15A>T) c.5130+15A>T (n.5130+15A>T) c.4947+15A>T (n.4947+15A>T) c.4668+15A>T (n.4668+15A>T) c.3711+15A>T (n.3711+15A>T) c.3702+15A>T (n.3702+15A>T) | |
5 | g.37020895T>G | CA3236743 | NIPBL | c.5328+18T>G (n.5328+18T>G) c.1-43683T>G (n.1-43683T>G) c.4584+18T>G (n.4584+18T>G) c.5130+18T>G (n.5130+18T>G) c.4947+18T>G (n.4947+18T>G) c.4668+18T>G (n.4668+18T>G) c.3711+18T>G (n.3711+18T>G) c.3702+18T>G (n.3702+18T>G) | dbSNP ExAC gnomAD v2 |
5 | g.37020895T= | CA1539584842 | NIPBL | c.5328+18T= (n.5328+18T=) c.1-43683T= (n.1-43683T=) c.4584+18T= (n.4584+18T=) c.5130+18T= (n.5130+18T=) c.4947+18T= (n.4947+18T=) c.4668+18T= (n.4668+18T=) c.3711+18T= (n.3711+18T=) c.3702+18T= (n.3702+18T=) | |
5 | g.37020896C>A | CA2673553616 | NIPBL | c.5328+19C>A (n.5328+19C>A) c.1-43682C>A (n.1-43682C>A) c.4584+19C>A (n.4584+19C>A) c.5130+19C>A (n.5130+19C>A) c.4947+19C>A (n.4947+19C>A) c.4668+19C>A (n.4668+19C>A) c.3711+19C>A (n.3711+19C>A) c.3702+19C>A (n.3702+19C>A) | gnomAD v4 |
5 | g.37020896C>T | CA2578289473 | NIPBL | c.5328+19C>T (n.5328+19C>T) c.1-43682C>T (n.1-43682C>T) c.4584+19C>T (n.4584+19C>T) c.5130+19C>T (n.5130+19C>T) c.4947+19C>T (n.4947+19C>T) c.4668+19C>T (n.4668+19C>T) c.3711+19C>T (n.3711+19C>T) c.3702+19C>T (n.3702+19C>T) | |
5 | g.37020897del | CA2578289472 | NIPBL | c.5328+20del (n.5328+20del) c.1-43681del (n.1-43681del) c.4584+20del (n.4584+20del) c.5130+20del (n.5130+20del) c.4947+20del (n.4947+20del) c.4668+20del (n.4668+20del) c.3711+20del (n.3711+20del) c.3702+20del (n.3702+20del) | gnomAD v4 |
5 | g.37020897C>A | CA2673553617 | NIPBL | c.5328+20C>A (n.5328+20C>A) c.1-43681C>A (n.1-43681C>A) c.4584+20C>A (n.4584+20C>A) c.5130+20C>A (n.5130+20C>A) c.4947+20C>A (n.4947+20C>A) c.4668+20C>A (n.4668+20C>A) c.3711+20C>A (n.3711+20C>A) c.3702+20C>A (n.3702+20C>A) | gnomAD v4 |
5 | g.37020897C= | CA1539584844 | NIPBL | c.5328+20C= (n.5328+20C=) c.1-43681C= (n.1-43681C=) c.4584+20C= (n.4584+20C=) c.5130+20C= (n.5130+20C=) c.4947+20C= (n.4947+20C=) c.4668+20C= (n.4668+20C=) c.3711+20C= (n.3711+20C=) c.3702+20C= (n.3702+20C=) | |
5 | g.37020897C>T | CA3236744 | NIPBL | c.5328+20C>T (n.5328+20C>T) c.1-43681C>T (n.1-43681C>T) c.4584+20C>T (n.4584+20C>T) c.5130+20C>T (n.5130+20C>T) c.4947+20C>T (n.4947+20C>T) c.4668+20C>T (n.4668+20C>T) c.3711+20C>T (n.3711+20C>T) c.3702+20C>T (n.3702+20C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37020898T>C | CA559295181 | NIPBL | c.5328+21T>C (n.5328+21T>C) c.1-43680T>C (n.1-43680T>C) c.4584+21T>C (n.4584+21T>C) c.5130+21T>C (n.5130+21T>C) c.4947+21T>C (n.4947+21T>C) c.4668+21T>C (n.4668+21T>C) c.3711+21T>C (n.3711+21T>C) c.3702+21T>C (n.3702+21T>C) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37020898T= | CA1539584847 | NIPBL | c.5328+21T= (n.5328+21T=) c.1-43680T= (n.1-43680T=) c.4584+21T= (n.4584+21T=) c.5130+21T= (n.5130+21T=) c.4947+21T= (n.4947+21T=) c.4668+21T= (n.4668+21T=) c.3711+21T= (n.3711+21T=) c.3702+21T= (n.3702+21T=) | |
5 | g.37020899del | CA2578289474 | NIPBL | c.5328+22del (n.5328+22del) c.1-43679del (n.1-43679del) c.4584+22del (n.4584+22del) c.5130+22del (n.5130+22del) c.4947+22del (n.4947+22del) c.4668+22del (n.4668+22del) c.3711+22del (n.3711+22del) c.3702+22del (n.3702+22del) | |
5 | g.37020899T>C | CA2673553624 | NIPBL | c.5328+22T>C (n.5328+22T>C) c.1-43679T>C (n.1-43679T>C) c.4584+22T>C (n.4584+22T>C) c.5130+22T>C (n.5130+22T>C) c.4947+22T>C (n.4947+22T>C) c.4668+22T>C (n.4668+22T>C) c.3711+22T>C (n.3711+22T>C) c.3702+22T>C (n.3702+22T>C) | gnomAD v4 |
5 | g.37020899T>G | CA559295182 | NIPBL | c.5328+22T>G (n.5328+22T>G) c.1-43679T>G (n.1-43679T>G) c.4584+22T>G (n.4584+22T>G) c.5130+22T>G (n.5130+22T>G) c.4947+22T>G (n.4947+22T>G) c.4668+22T>G (n.4668+22T>G) c.3711+22T>G (n.3711+22T>G) c.3702+22T>G (n.3702+22T>G) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37020899T= | CA1539584860 | NIPBL | c.5328+22T= (n.5328+22T=) c.1-43679T= (n.1-43679T=) c.4584+22T= (n.4584+22T=) c.5130+22T= (n.5130+22T=) c.4947+22T= (n.4947+22T=) c.4668+22T= (n.4668+22T=) c.3711+22T= (n.3711+22T=) c.3702+22T= (n.3702+22T=) | |
5 | g.37020900A= | CA1539584864 | NIPBL | c.5328+23A= (n.5328+23A=) c.1-43678A= (n.1-43678A=) c.4584+23A= (n.4584+23A=) c.5130+23A= (n.5130+23A=) c.4947+23A= (n.4947+23A=) c.4668+23A= (n.4668+23A=) c.3711+23A= (n.3711+23A=) c.3702+23A= (n.3702+23A=) | |
5 | g.37020900A>C | CA1539584865 | NIPBL | c.5328+23A>C (n.5328+23A>C) c.1-43678A>C (n.1-43678A>C) c.4584+23A>C (n.4584+23A>C) c.5130+23A>C (n.5130+23A>C) c.4947+23A>C (n.4947+23A>C) c.4668+23A>C (n.4668+23A>C) c.3711+23A>C (n.3711+23A>C) c.3702+23A>C (n.3702+23A>C) | dbSNP gnomAD v4 |
5 | g.37020900A>G | CA2673553626 | NIPBL | c.5328+23A>G (n.5328+23A>G) c.1-43678A>G (n.1-43678A>G) c.4584+23A>G (n.4584+23A>G) c.5130+23A>G (n.5130+23A>G) c.4947+23A>G (n.4947+23A>G) c.4668+23A>G (n.4668+23A>G) c.3711+23A>G (n.3711+23A>G) c.3702+23A>G (n.3702+23A>G) | dbSNP gnomAD v4 |
5 | g.37020900A>T | CA3236745 | NIPBL | c.5328+23A>T (n.5328+23A>T) c.1-43678A>T (n.1-43678A>T) c.4584+23A>T (n.4584+23A>T) c.5130+23A>T (n.5130+23A>T) c.4947+23A>T (n.4947+23A>T) c.4668+23A>T (n.4668+23A>T) c.3711+23A>T (n.3711+23A>T) c.3702+23A>T (n.3702+23A>T) | dbSNP ExAC gnomAD v2 |
5 | g.37020902A>C | CA2673553631 | NIPBL | c.5328+25A>C (n.5328+25A>C) c.1-43676A>C (n.1-43676A>C) c.4584+25A>C (n.4584+25A>C) c.5130+25A>C (n.5130+25A>C) c.4947+25A>C (n.4947+25A>C) c.4668+25A>C (n.4668+25A>C) c.3711+25A>C (n.3711+25A>C) c.3702+25A>C (n.3702+25A>C) | gnomAD v4 |
5 | g.37020902A>G | CA2578289475 | NIPBL | c.5328+25A>G (n.5328+25A>G) c.1-43676A>G (n.1-43676A>G) c.4584+25A>G (n.4584+25A>G) c.5130+25A>G (n.5130+25A>G) c.4947+25A>G (n.4947+25A>G) c.4668+25A>G (n.4668+25A>G) c.3711+25A>G (n.3711+25A>G) c.3702+25A>G (n.3702+25A>G) | |
5 | g.37020902_37020903delinsAC | CA1539584866 | NIPBL | c.5328+25_5328+26delinsAC (n.5328+25_5328+26delinsAC) c.1-43676_1-43675delinsAC (n.1-43676_1-43675delinsAC) c.4584+25_4584+26delinsAC (n.4584+25_4584+26delinsAC) c.5130+25_5130+26delinsAC (n.5130+25_5130+26delinsAC) c.4947+25_4947+26delinsAC (n.4947+25_4947+26delinsAC) c.4668+25_4668+26delinsAC (n.4668+25_4668+26delinsAC) c.3711+25_3711+26delinsAC (n.3711+25_3711+26delinsAC) c.3702+25_3702+26delinsAC (n.3702+25_3702+26delinsAC) | |
5 | g.37020903del | CA559295183 | NIPBL | c.5328+26del (n.5328+26del) c.1-43675del (n.1-43675del) c.4584+26del (n.4584+26del) c.5130+26del (n.5130+26del) c.4947+26del (n.4947+26del) c.4668+26del (n.4668+26del) c.3711+26del (n.3711+26del) c.3702+26del (n.3702+26del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37020903C>A | CA2673553638 | NIPBL | c.5328+26C>A (n.5328+26C>A) c.1-43675C>A (n.1-43675C>A) c.4584+26C>A (n.4584+26C>A) c.5130+26C>A (n.5130+26C>A) c.4947+26C>A (n.4947+26C>A) c.4668+26C>A (n.4668+26C>A) c.3711+26C>A (n.3711+26C>A) c.3702+26C>A (n.3702+26C>A) | gnomAD v4 |
5 | g.37020903C>T | CA2578289476 | NIPBL | c.5328+26C>T (n.5328+26C>T) c.1-43675C>T (n.1-43675C>T) c.4584+26C>T (n.4584+26C>T) c.5130+26C>T (n.5130+26C>T) c.4947+26C>T (n.4947+26C>T) c.4668+26C>T (n.4668+26C>T) c.3711+26C>T (n.3711+26C>T) c.3702+26C>T (n.3702+26C>T) | gnomAD v4 |
5 | g.37020904A= | CA1539584872 | NIPBL | c.5328+27A= (n.5328+27A=) c.1-43674A= (n.1-43674A=) c.4584+27A= (n.4584+27A=) c.5130+27A= (n.5130+27A=) c.4947+27A= (n.4947+27A=) c.4668+27A= (n.4668+27A=) c.3711+27A= (n.3711+27A=) c.3702+27A= (n.3702+27A=) | |
5 | g.37020904A>C | CA1075106001 | NIPBL | c.5328+27A>C (n.5328+27A>C) c.1-43674A>C (n.1-43674A>C) c.4584+27A>C (n.4584+27A>C) c.5130+27A>C (n.5130+27A>C) c.4947+27A>C (n.4947+27A>C) c.4668+27A>C (n.4668+27A>C) c.3711+27A>C (n.3711+27A>C) c.3702+27A>C (n.3702+27A>C) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.37020904A>G | CA2673553641 | NIPBL | c.5328+27A>G (n.5328+27A>G) c.1-43674A>G (n.1-43674A>G) c.4584+27A>G (n.4584+27A>G) c.5130+27A>G (n.5130+27A>G) c.4947+27A>G (n.4947+27A>G) c.4668+27A>G (n.4668+27A>G) c.3711+27A>G (n.3711+27A>G) c.3702+27A>G (n.3702+27A>G) | gnomAD v4 |
5 | g.37020905G>T | CA2673553642 | NIPBL | c.5328+28G>T (n.5328+28G>T) c.1-43673G>T (n.1-43673G>T) c.4584+28G>T (n.4584+28G>T) c.5130+28G>T (n.5130+28G>T) c.4947+28G>T (n.4947+28G>T) c.4668+28G>T (n.4668+28G>T) c.3711+28G>T (n.3711+28G>T) c.3702+28G>T (n.3702+28G>T) | gnomAD v4 |
5 | g.37020907G>A | CA2673553643 | NIPBL | c.5328+30G>A (n.5328+30G>A) c.1-43671G>A (n.1-43671G>A) c.4584+30G>A (n.4584+30G>A) c.5130+30G>A (n.5130+30G>A) c.4947+30G>A (n.4947+30G>A) c.4668+30G>A (n.4668+30G>A) c.3711+30G>A (n.3711+30G>A) c.3702+30G>A (n.3702+30G>A) | gnomAD v4 |
5 | g.37020908A>G | CA2673553649 | NIPBL | c.5328+31A>G (n.5328+31A>G) c.1-43670A>G (n.1-43670A>G) c.4584+31A>G (n.4584+31A>G) c.5130+31A>G (n.5130+31A>G) c.4947+31A>G (n.4947+31A>G) c.4668+31A>G (n.4668+31A>G) c.3711+31A>G (n.3711+31A>G) c.3702+31A>G (n.3702+31A>G) | gnomAD v4 |
5 | g.37020910_37020911del | CA2673553645 | NIPBL | c.5328+33_5328+34del (n.5328+33_5328+34del) c.1-43668_1-43667del (n.1-43668_1-43667del) c.4584+33_4584+34del (n.4584+33_4584+34del) c.5130+33_5130+34del (n.5130+33_5130+34del) c.4947+33_4947+34del (n.4947+33_4947+34del) c.4668+33_4668+34del (n.4668+33_4668+34del) c.3711+33_3711+34del (n.3711+33_3711+34del) c.3702+33_3702+34del (n.3702+33_3702+34del) | gnomAD v4 |
5 | g.37020909T>C | CA1539584879 | NIPBL | c.5328+32T>C (n.5328+32T>C) c.1-43669T>C (n.1-43669T>C) c.4584+32T>C (n.4584+32T>C) c.5130+32T>C (n.5130+32T>C) c.4947+32T>C (n.4947+32T>C) c.4668+32T>C (n.4668+32T>C) c.3711+32T>C (n.3711+32T>C) c.3702+32T>C (n.3702+32T>C) | dbSNP gnomAD v4 |
5 | g.37020909T= | CA1539584876 | NIPBL | c.5328+32T= (n.5328+32T=) c.1-43669T= (n.1-43669T=) c.4584+32T= (n.4584+32T=) c.5130+32T= (n.5130+32T=) c.4947+32T= (n.4947+32T=) c.4668+32T= (n.4668+32T=) c.3711+32T= (n.3711+32T=) c.3702+32T= (n.3702+32T=) | |
5 | g.37020910A= | CA1539584885 | NIPBL | c.5328+33A= (n.5328+33A=) c.1-43668A= (n.1-43668A=) c.4584+33A= (n.4584+33A=) c.5130+33A= (n.5130+33A=) c.4947+33A= (n.4947+33A=) c.4668+33A= (n.4668+33A=) c.3711+33A= (n.3711+33A=) c.3702+33A= (n.3702+33A=) | |
5 | g.37020911T>C | CA3236746 | NIPBL | c.5328+34T>C (n.5328+34T>C) c.1-43667T>C (n.1-43667T>C) c.4584+34T>C (n.4584+34T>C) c.5130+34T>C (n.5130+34T>C) c.4947+34T>C (n.4947+34T>C) c.4668+34T>C (n.4668+34T>C) c.3711+34T>C (n.3711+34T>C) c.3702+34T>C (n.3702+34T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37020911T>G | CA3236747 | NIPBL | c.5328+34T>G (n.5328+34T>G) c.1-43667T>G (n.1-43667T>G) c.4584+34T>G (n.4584+34T>G) c.5130+34T>G (n.5130+34T>G) c.4947+34T>G (n.4947+34T>G) c.4668+34T>G (n.4668+34T>G) c.3711+34T>G (n.3711+34T>G) c.3702+34T>G (n.3702+34T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37020911T= | CA1539584896 | NIPBL | c.5328+34T= (n.5328+34T=) c.1-43667T= (n.1-43667T=) c.4584+34T= (n.4584+34T=) c.5130+34T= (n.5130+34T=) c.4947+34T= (n.4947+34T=) c.4668+34T= (n.4668+34T=) c.3711+34T= (n.3711+34T=) c.3702+34T= (n.3702+34T=) | |
5 | g.37020913_37020919dup | CA559295184 | NIPBL | c.5328+36_5328+42dup (n.5328+36_5328+42dup) c.1-43665_1-43659dup (n.1-43665_1-43659dup) c.4584+36_4584+42dup (n.4584+36_4584+42dup) c.5130+36_5130+42dup (n.5130+36_5130+42dup) c.4947+36_4947+42dup (n.4947+36_4947+42dup) c.4668+36_4668+42dup (n.4668+36_4668+42dup) c.3711+36_3711+42dup (n.3711+36_3711+42dup) c.3702+36_3702+42dup (n.3702+36_3702+42dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37020913G>T | CA2673553655 | NIPBL | c.5328+36G>T (n.5328+36G>T) c.1-43665G>T (n.1-43665G>T) c.4584+36G>T (n.4584+36G>T) c.5130+36G>T (n.5130+36G>T) c.4947+36G>T (n.4947+36G>T) c.4668+36G>T (n.4668+36G>T) c.3711+36G>T (n.3711+36G>T) c.3702+36G>T (n.3702+36G>T) | gnomAD v4 |
5 | g.37020915T>C | CA3236748 | NIPBL | c.5328+38T>C (n.5328+38T>C) c.1-43663T>C (n.1-43663T>C) c.4584+38T>C (n.4584+38T>C) c.5130+38T>C (n.5130+38T>C) c.4947+38T>C (n.4947+38T>C) c.4668+38T>C (n.4668+38T>C) c.3711+38T>C (n.3711+38T>C) c.3702+38T>C (n.3702+38T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37020915T= | CA1539584907 | NIPBL | c.5328+38T= (n.5328+38T=) c.1-43663T= (n.1-43663T=) c.4584+38T= (n.4584+38T=) c.5130+38T= (n.5130+38T=) c.4947+38T= (n.4947+38T=) c.4668+38T= (n.4668+38T=) c.3711+38T= (n.3711+38T=) c.3702+38T= (n.3702+38T=) | |
5 | g.37020917_37020919dup | CA2673553657 | NIPBL | c.5328+40_5328+42dup (n.5328+40_5328+42dup) c.1-43661_1-43659dup (n.1-43661_1-43659dup) c.4584+40_4584+42dup (n.4584+40_4584+42dup) c.5130+40_5130+42dup (n.5130+40_5130+42dup) c.4947+40_4947+42dup (n.4947+40_4947+42dup) c.4668+40_4668+42dup (n.4668+40_4668+42dup) c.3711+40_3711+42dup (n.3711+40_3711+42dup) c.3702+40_3702+42dup (n.3702+40_3702+42dup) | gnomAD v4 |
5 | g.37020920C>A | CA2673553660 | NIPBL | c.5328+43C>A (n.5328+43C>A) c.1-43658C>A (n.1-43658C>A) c.4584+43C>A (n.4584+43C>A) c.5130+43C>A (n.5130+43C>A) c.4947+43C>A (n.4947+43C>A) c.4668+43C>A (n.4668+43C>A) c.3711+43C>A (n.3711+43C>A) c.3702+43C>A (n.3702+43C>A) | gnomAD v4 |
5 | g.37020920C= | CA1539584909 | NIPBL | c.5328+43C= (n.5328+43C=) c.1-43658C= (n.1-43658C=) c.4584+43C= (n.4584+43C=) c.5130+43C= (n.5130+43C=) c.4947+43C= (n.4947+43C=) c.4668+43C= (n.4668+43C=) c.3711+43C= (n.3711+43C=) c.3702+43C= (n.3702+43C=) | |
5 | g.37020920C>G | CA3236749 | NIPBL | c.5328+43C>G (n.5328+43C>G) c.1-43658C>G (n.1-43658C>G) c.4584+43C>G (n.4584+43C>G) c.5130+43C>G (n.5130+43C>G) c.4947+43C>G (n.4947+43C>G) c.4668+43C>G (n.4668+43C>G) c.3711+43C>G (n.3711+43C>G) c.3702+43C>G (n.3702+43C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.37020920C>T | CA2673553662 | NIPBL | c.5328+43C>T (n.5328+43C>T) c.1-43658C>T (n.1-43658C>T) c.4584+43C>T (n.4584+43C>T) c.5130+43C>T (n.5130+43C>T) c.4947+43C>T (n.4947+43C>T) c.4668+43C>T (n.4668+43C>T) c.3711+43C>T (n.3711+43C>T) c.3702+43C>T (n.3702+43C>T) | gnomAD v4 |
5 | g.37020921T>A | CA2578289478 | NIPBL | c.5328+44T>A (n.5328+44T>A) c.1-43657T>A (n.1-43657T>A) c.4584+44T>A (n.4584+44T>A) c.5130+44T>A (n.5130+44T>A) c.4947+44T>A (n.4947+44T>A) c.4668+44T>A (n.4668+44T>A) c.3711+44T>A (n.3711+44T>A) c.3702+44T>A (n.3702+44T>A) | |
5 | g.37020922G>A | CA2578289479 | NIPBL | c.5328+45G>A (n.5328+45G>A) c.1-43656G>A (n.1-43656G>A) c.4584+45G>A (n.4584+45G>A) c.5130+45G>A (n.5130+45G>A) c.4947+45G>A (n.4947+45G>A) c.4668+45G>A (n.4668+45G>A) c.3711+45G>A (n.3711+45G>A) c.3702+45G>A (n.3702+45G>A) | |
5 | g.37020922G>T | CA2673553664 | NIPBL | c.5328+45G>T (n.5328+45G>T) c.1-43656G>T (n.1-43656G>T) c.4584+45G>T (n.4584+45G>T) c.5130+45G>T (n.5130+45G>T) c.4947+45G>T (n.4947+45G>T) c.4668+45G>T (n.4668+45G>T) c.3711+45G>T (n.3711+45G>T) c.3702+45G>T (n.3702+45G>T) | gnomAD v4 |