| 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.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.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) | |
| 5 | g.36975917A>G | CA359483496 | NIPBL | c.1010A>G (p.Glu337Gly) n.630A>G c.1-88661A>G (n.1-88661A>G) c.266A>G (p.Glu89Gly) c.350A>G (p.Glu117Gly) | |
| 5 | g.36975917A>T | CA359483502 | NIPBL | c.1010A>T (p.Glu337Val) n.630A>T c.1-88661A>T (n.1-88661A>T) c.266A>T (p.Glu89Val) c.350A>T (p.Glu117Val) | |
| 5 | g.36975918G>A | CA3235977 | NIPBL | c.1011G>A (p.Glu337=) n.631G>A c.1-88660G>A (n.1-88660G>A) c.267G>A (p.Glu89=) c.351G>A (p.Glu117=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.36975918G>C | CA359483515 | NIPBL | c.1011G>C (p.Glu337Asp) n.631G>C c.1-88660G>C (n.1-88660G>C) c.267G>C (p.Glu89Asp) c.351G>C (p.Glu117Asp) | |
| 5 | g.36975918G= | CA1539569086 | NIPBL | c.1011G= (p.Glu337=) n.631G= c.1-88660G= (n.1-88660G=) c.267G= (p.Glu89=) c.351G= (p.Glu117=) | |
| 5 | g.36975918G>T | CA359483516 | NIPBL | c.1011G>T (p.Glu337Asp) n.631G>T c.1-88660G>T (n.1-88660G>T) c.267G>T (p.Glu89Asp) c.351G>T (p.Glu117Asp) | |
| 5 | g.36975919C>A | CA359483517 | NIPBL | c.1012C>A (p.Gln338Lys) n.632C>A c.1-88659C>A (n.1-88659C>A) c.268C>A (p.Gln90Lys) c.352C>A (p.Gln118Lys) | |
| 5 | g.36975919C>G | CA359483523 | NIPBL | c.1012C>G (p.Gln338Glu) n.632C>G c.1-88659C>G (n.1-88659C>G) c.268C>G (p.Gln90Glu) c.352C>G (p.Gln118Glu) | |
| 5 | g.36975919C>T | CA359483519 | NIPBL | c.1012C>T (p.Gln338Ter) n.632C>T c.1-88659C>T (n.1-88659C>T) c.268C>T (p.Gln90Ter) c.352C>T (p.Gln118Ter) | |
| 5 | g.36975920A>C | CA359483525 | NIPBL | c.1013A>C (p.Gln338Pro) n.633A>C c.1-88658A>C (n.1-88658A>C) c.269A>C (p.Gln90Pro) c.353A>C (p.Gln118Pro) | |
| 5 | g.36975920A>G | CA359483526 | NIPBL | c.1013A>G (p.Gln338Arg) n.633A>G c.1-88658A>G (n.1-88658A>G) c.269A>G (p.Gln90Arg) c.353A>G (p.Gln118Arg) | gnomAD v4 |
| 5 | g.36975920A>T | CA359483527 | NIPBL | c.1013A>T (p.Gln338Leu) n.633A>T c.1-88658A>T (n.1-88658A>T) c.269A>T (p.Gln90Leu) c.353A>T (p.Gln118Leu) | |
| 5 | g.36975921G>A | CA444095125 | NIPBL | c.1014G>A (p.Gln338=) n.634G>A c.1-88657G>A (n.1-88657G>A) c.270G>A (p.Gln90=) c.354G>A (p.Gln118=) | |
| 5 | g.36975921G>C | CA359483528 | NIPBL | c.1014G>C (p.Gln338His) n.634G>C c.1-88657G>C (n.1-88657G>C) c.270G>C (p.Gln90His) c.354G>C (p.Gln118His) | |
| 5 | g.36975921G>T | CA359483530 | NIPBL | c.1014G>T (p.Gln338His) n.634G>T c.1-88657G>T (n.1-88657G>T) c.270G>T (p.Gln90His) c.354G>T (p.Gln118His) | |
| 5 | g.36975922A>C | CA359483532 | NIPBL | c.1015A>C (p.Ser339Arg) n.635A>C c.1-88656A>C (n.1-88656A>C) c.271A>C (p.Ser91Arg) c.355A>C (p.Ser119Arg) | |
| 5 | g.36975922A>G | CA359483533 | NIPBL | c.1015A>G (p.Ser339Gly) n.635A>G c.1-88656A>G (n.1-88656A>G) c.271A>G (p.Ser91Gly) c.355A>G (p.Ser119Gly) | gnomAD v4 |
| 5 | g.36975922A>T | CA359483531 | NIPBL | c.1015A>T (p.Ser339Cys) n.635A>T c.1-88656A>T (n.1-88656A>T) c.271A>T (p.Ser91Cys) c.355A>T (p.Ser119Cys) | |
| 5 | g.36975923G>A | CA359483536 | NIPBL | c.1016G>A (p.Ser339Asn) n.636G>A c.1-88655G>A (n.1-88655G>A) c.272G>A (p.Ser91Asn) c.356G>A (p.Ser119Asn) | ClinVar |
| 5 | g.36975923G>C | CA359483539 | NIPBL | c.1016G>C (p.Ser339Thr) n.636G>C c.1-88655G>C (n.1-88655G>C) c.272G>C (p.Ser91Thr) c.356G>C (p.Ser119Thr) | |
| 5 | g.36975923G>T | CA359483538 | NIPBL | c.1016G>T (p.Ser339Ile) n.636G>T c.1-88655G>T (n.1-88655G>T) c.272G>T (p.Ser91Ile) c.356G>T (p.Ser119Ile) |