Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.36975903_36975913delinsCAAGGATGAAA | CA1539569051 | NIPBL | c.996_1006delinsCAAGGATGAAA (p.Gly332=) n.616_626delinsCAAGGATGAAA c.1-88675_1-88665delinsCAAGGATGAAA (n.1-88675_1-88665delinsCAAGGATGAAA) c.252_262delinsCAAGGATGAAA (p.Gly84=) c.336_346delinsCAAGGATGAAA (p.Gly112=) | |
5 | g.36975904A>C | CA359483365 | NIPBL | c.997A>C (p.Lys333Gln) n.617A>C c.1-88674A>C (n.1-88674A>C) c.253A>C (p.Lys85Gln) c.337A>C (p.Lys113Gln) | |
5 | g.36975904A>G | CA359483364 | NIPBL | c.997A>G (p.Lys333Glu) n.617A>G c.1-88674A>G (n.1-88674A>G) c.253A>G (p.Lys85Glu) c.337A>G (p.Lys113Glu) | |
5 | g.36975904A>T | CA359483363 | NIPBL | c.997A>T (p.Lys333Ter) n.617A>T c.1-88674A>T (n.1-88674A>T) c.253A>T (p.Lys85Ter) c.337A>T (p.Lys113Ter) | |
5 | g.36975905del | CA2695204301 | NIPBL | c.998del (p.Lys333ArgfsTer15) n.618del c.1-88673del (n.1-88673del) c.254del (p.Lys85ArgfsTer15) c.338del (p.Lys113ArgfsTer15) | |
5 | g.36975907_36975916del | CA1139655869 | NIPBL | c.1000_1009del (p.Asp334SerfsTer11) n.620_629del c.1-88671_1-88662del (n.1-88671_1-88662del) c.256_265del (p.Asp86SerfsTer11) c.340_349del (p.Asp114SerfsTer11) | ClinVar dbSNP |
5 | g.36975905A>C | CA359483367 | NIPBL | c.998A>C (p.Lys333Thr) n.618A>C c.1-88673A>C (n.1-88673A>C) c.254A>C (p.Lys85Thr) c.338A>C (p.Lys113Thr) | |
5 | g.36975905A>G | CA359483369 | NIPBL | c.998A>G (p.Lys333Arg) n.618A>G c.1-88673A>G (n.1-88673A>G) c.254A>G (p.Lys85Arg) c.338A>G (p.Lys113Arg) | |
5 | g.36975905A>T | CA359483388 | NIPBL | c.998A>T (p.Lys333Met) n.618A>T c.1-88673A>T (n.1-88673A>T) c.254A>T (p.Lys85Met) c.338A>T (p.Lys113Met) | COSMIC COSMIC |
5 | g.36975906G>A | CA444095098 | NIPBL | c.999G>A (p.Lys333=) n.619G>A c.1-88672G>A (n.1-88672G>A) c.255G>A (p.Lys85=) c.339G>A (p.Lys113=) | gnomAD v4 |
5 | g.36975906G>C | CA359483405 | NIPBL | c.999G>C (p.Lys333Asn) n.619G>C c.1-88672G>C (n.1-88672G>C) c.255G>C (p.Lys85Asn) c.339G>C (p.Lys113Asn) | dbSNP gnomAD v4 |
5 | g.36975906G= | CA1539569058 | NIPBL | c.999G= (p.Lys333=) n.619G= c.1-88672G= (n.1-88672G=) c.255G= (p.Lys85=) c.339G= (p.Lys113=) | |
5 | g.36975906G>T | CA359483406 | NIPBL | c.999G>T (p.Lys333Asn) n.619G>T c.1-88672G>T (n.1-88672G>T) c.255G>T (p.Lys85Asn) c.339G>T (p.Lys113Asn) | COSMIC COSMIC |
5 | g.36975907G>A | CA359483407 | NIPBL | c.1000G>A (p.Asp334Asn) n.620G>A c.1-88671G>A (n.1-88671G>A) c.256G>A (p.Asp86Asn) c.340G>A (p.Asp114Asn) | |
5 | g.36975907G>C | CA359483409 | NIPBL | c.1000G>C (p.Asp334His) n.620G>C c.1-88671G>C (n.1-88671G>C) c.256G>C (p.Asp86His) c.340G>C (p.Asp114His) | |
5 | g.36975907G>T | CA359483410 | NIPBL | c.1000G>T (p.Asp334Tyr) n.620G>T c.1-88671G>T (n.1-88671G>T) c.256G>T (p.Asp86Tyr) c.340G>T (p.Asp114Tyr) | |
5 | g.36975908A>C | CA359483415 | NIPBL | c.1001A>C (p.Asp334Ala) n.621A>C c.1-88670A>C (n.1-88670A>C) c.257A>C (p.Asp86Ala) c.341A>C (p.Asp114Ala) | ClinVar |
5 | g.36975908A>G | CA359483417 | NIPBL | c.1001A>G (p.Asp334Gly) n.621A>G c.1-88670A>G (n.1-88670A>G) c.257A>G (p.Asp86Gly) c.341A>G (p.Asp114Gly) | |
5 | g.36975908A>T | CA359483419 | NIPBL | c.1001A>T (p.Asp334Val) n.621A>T c.1-88670A>T (n.1-88670A>T) c.257A>T (p.Asp86Val) c.341A>T (p.Asp114Val) | |
5 | g.36975909T>A | CA359483421 | NIPBL | c.1002T>A (p.Asp334Glu) n.622T>A c.1-88669T>A (n.1-88669T>A) c.258T>A (p.Asp86Glu) c.342T>A (p.Asp114Glu) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.36975909T>C | CA444095100 | NIPBL | c.1002T>C (p.Asp334=) n.622T>C c.1-88669T>C (n.1-88669T>C) c.258T>C (p.Asp86=) c.342T>C (p.Asp114=) | |
5 | g.36975909T>G | CA359483423 | NIPBL | c.1002T>G (p.Asp334Glu) n.622T>G c.1-88669T>G (n.1-88669T>G) c.258T>G (p.Asp86Glu) c.342T>G (p.Asp114Glu) | |
5 | g.36975909T= | CA1539569073 | NIPBL | c.1002T= (p.Asp334=) n.622T= c.1-88669T= (n.1-88669T=) c.258T= (p.Asp86=) c.342T= (p.Asp114=) | |
5 | g.36975909_36975910delinsTG | CA1539569070 | NIPBL | c.1002_1003delinsTG (p.Asp334=) n.622_623delinsTG c.1-88669_1-88668delinsTG (n.1-88669_1-88668delinsTG) c.258_259delinsTG (p.Asp86=) c.342_343delinsTG (p.Asp114=) | |
5 | g.36975910del | CA271955 | NIPBL | c.1003del (p.Glu335LysfsTer13) n.623del c.1-88668del (n.1-88668del) c.259del (p.Glu87LysfsTer13) c.343del (p.Glu115LysfsTer13) | ClinVar dbSNP |
5 | g.36975910G>A | CA359483437 | NIPBL | c.1003G>A (p.Glu335Lys) n.623G>A c.1-88668G>A (n.1-88668G>A) c.259G>A (p.Glu87Lys) c.343G>A (p.Glu115Lys) | |
5 | g.36975910G>C | CA3235976 | NIPBL | c.1003G>C (p.Glu335Gln) n.623G>C c.1-88668G>C (n.1-88668G>C) c.259G>C (p.Glu87Gln) c.343G>C (p.Glu115Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.36975910G= | CA1539569080 | NIPBL | c.1003G= (p.Glu335=) n.623G= c.1-88668G= (n.1-88668G=) c.259G= (p.Glu87=) c.343G= (p.Glu115=) | |
5 | g.36975910G>T | CA359483429 | NIPBL | c.1003G>T (p.Glu335Ter) n.623G>T c.1-88668G>T (n.1-88668G>T) c.259G>T (p.Glu87Ter) c.343G>T (p.Glu115Ter) | |
5 | g.36975911A= | CA1539569082 | NIPBL | c.1004A= (p.Glu335=) n.624A= c.1-88667A= (n.1-88667A=) c.260A= (p.Glu87=) c.344A= (p.Glu115=) | |
5 | g.36975911A>C | CA359483445 | NIPBL | c.1004A>C (p.Glu335Ala) n.624A>C c.1-88667A>C (n.1-88667A>C) c.260A>C (p.Glu87Ala) c.344A>C (p.Glu115Ala) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.36975911A>G | CA359483439 | NIPBL | c.1004A>G (p.Glu335Gly) n.624A>G c.1-88667A>G (n.1-88667A>G) c.260A>G (p.Glu87Gly) c.344A>G (p.Glu115Gly) | ClinVar dbSNP |
5 | g.36975911A>T | CA359483441 | NIPBL | c.1004A>T (p.Glu335Val) n.624A>T c.1-88667A>T (n.1-88667A>T) c.260A>T (p.Glu87Val) c.344A>T (p.Glu115Val) | |
5 | g.36975912A>C | CA359483447 | NIPBL | c.1005A>C (p.Glu335Asp) n.625A>C c.1-88666A>C (n.1-88666A>C) c.261A>C (p.Glu87Asp) c.345A>C (p.Glu115Asp) | |
5 | g.36975912A>G | CA444095108 | NIPBL | c.1005A>G (p.Glu335=) n.625A>G c.1-88666A>G (n.1-88666A>G) c.261A>G (p.Glu87=) c.345A>G (p.Glu115=) | |
5 | g.36975912A>T | CA359483448 | NIPBL | c.1005A>T (p.Glu335Asp) n.625A>T c.1-88666A>T (n.1-88666A>T) c.261A>T (p.Glu87Asp) c.345A>T (p.Glu115Asp) | |
5 | g.36975913A>C | CA359483450 | NIPBL | c.1006A>C (p.Lys336Gln) n.626A>C c.1-88665A>C (n.1-88665A>C) c.262A>C (p.Lys88Gln) c.346A>C (p.Lys116Gln) | |
5 | g.36975913A>G | CA359483453 | NIPBL | c.1006A>G (p.Lys336Glu) n.626A>G c.1-88665A>G (n.1-88665A>G) c.262A>G (p.Lys88Glu) c.346A>G (p.Lys116Glu) | |
5 | g.36975913A>T | CA359483456 | NIPBL | c.1006A>T (p.Lys336Ter) n.626A>T c.1-88665A>T (n.1-88665A>T) c.262A>T (p.Lys88Ter) c.346A>T (p.Lys116Ter) | |
5 | g.36975914A>C | CA359483458 | NIPBL | c.1007A>C (p.Lys336Thr) n.627A>C c.1-88664A>C (n.1-88664A>C) c.263A>C (p.Lys88Thr) c.347A>C (p.Lys116Thr) | |
5 | g.36975914A>G | CA359483463 | NIPBL | c.1007A>G (p.Lys336Arg) n.627A>G c.1-88664A>G (n.1-88664A>G) c.263A>G (p.Lys88Arg) c.347A>G (p.Lys116Arg) | |
5 | g.36975914A>T | CA359483469 | NIPBL | c.1007A>T (p.Lys336Ile) n.627A>T c.1-88664A>T (n.1-88664A>T) c.263A>T (p.Lys88Ile) c.347A>T (p.Lys116Ile) | |
5 | g.36975915A>C | CA359483473 | NIPBL | c.1008A>C (p.Lys336Asn) n.628A>C c.1-88663A>C (n.1-88663A>C) c.264A>C (p.Lys88Asn) c.348A>C (p.Lys116Asn) | |
5 | g.36975915A>G | CA444095115 | NIPBL | c.1008A>G (p.Lys336=) n.628A>G c.1-88663A>G (n.1-88663A>G) c.264A>G (p.Lys88=) c.348A>G (p.Lys116=) | gnomAD v4 |
5 | g.36975915A>T | CA359483475 | NIPBL | c.1008A>T (p.Lys336Asn) n.628A>T c.1-88663A>T (n.1-88663A>T) c.264A>T (p.Lys88Asn) c.348A>T (p.Lys116Asn) | gnomAD v4 |
5 | g.36975919_36975923del | CA2695204302 | NIPBL | c.1012_1016del (p.Gln338Ter) n.632_636del c.1-88659_1-88655del (n.1-88659_1-88655del) c.268_272del (p.Gln90Ter) c.352_356del (p.Gln118Ter) | |
5 | g.36975916G>A | CA359483479 | NIPBL | c.1009G>A (p.Glu337Lys) n.629G>A c.1-88662G>A (n.1-88662G>A) c.265G>A (p.Glu89Lys) c.349G>A (p.Glu117Lys) | |
5 | g.36975916G>C | CA359483486 | NIPBL | c.1009G>C (p.Glu337Gln) n.629G>C c.1-88662G>C (n.1-88662G>C) c.265G>C (p.Glu89Gln) c.349G>C (p.Glu117Gln) | |
5 | g.36975916G>T | CA359483477 | NIPBL | c.1009G>T (p.Glu337Ter) n.629G>T c.1-88662G>T (n.1-88662G>T) c.265G>T (p.Glu89Ter) c.349G>T (p.Glu117Ter) | |
5 | g.36975917A>C | CA359483491 | NIPBL | c.1010A>C (p.Glu337Ala) n.630A>C c.1-88661A>C (n.1-88661A>C) c.266A>C (p.Glu89Ala) c.350A>C (p.Glu117Ala) |