| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37051775_37051787del | CA1075099023 | NIPBL | c.6955-4_6963del n.833_845del c.1-12803_1-12791del (n.1-12803_1-12791del) c.6211-4_6219del c.6757-4_6765del c.6574-4_6582del c.6295-4_6303del c.5338-4_5346del c.5329-4_5337del | gnomAD v3 gnomAD v4 |
| 5 | g.37051786C>A | CA359509469 | NIPBL | c.6962C>A (p.Pro2321Gln) n.844C>A c.1-12792C>A (n.1-12792C>A) c.6218C>A (p.Pro2073Gln) c.6764C>A (p.Pro2255Gln) c.6581C>A (p.Pro2194Gln) c.6302C>A (p.Pro2101Gln) c.5345C>A (p.Pro1782Gln) c.5336C>A (p.Pro1779Gln) | |
| 5 | g.37051786C= | CA1539571306 | NIPBL | c.6962C= (p.Pro2321=) n.844C= c.1-12792C= (n.1-12792C=) c.6218C= (p.Pro2073=) c.6764C= (p.Pro2255=) c.6581C= (p.Pro2194=) c.6302C= (p.Pro2101=) c.5345C= (p.Pro1782=) c.5336C= (p.Pro1779=) | |
| 5 | g.37051786C>G | CA359509480 | NIPBL | c.6962C>G (p.Pro2321Arg) n.844C>G c.1-12792C>G (n.1-12792C>G) c.6218C>G (p.Pro2073Arg) c.6764C>G (p.Pro2255Arg) c.6581C>G (p.Pro2194Arg) c.6302C>G (p.Pro2101Arg) c.5345C>G (p.Pro1782Arg) c.5336C>G (p.Pro1779Arg) | |
| 5 | g.37051786C>T | CA16618204 | NIPBL | c.6962C>T (p.Pro2321Leu) n.844C>T c.1-12792C>T (n.1-12792C>T) c.6218C>T (p.Pro2073Leu) c.6764C>T (p.Pro2255Leu) c.6581C>T (p.Pro2194Leu) c.6302C>T (p.Pro2101Leu) c.5345C>T (p.Pro1782Leu) c.5336C>T (p.Pro1779Leu) | ClinVar dbSNP gnomAD v4 |
| 5 | g.37051787A= | CA1539571312 | NIPBL | c.6963A= (p.Pro2321=) n.845A= c.1-12791A= (n.1-12791A=) c.6219A= (p.Pro2073=) c.6765A= (p.Pro2255=) c.6582A= (p.Pro2194=) c.6303A= (p.Pro2101=) c.5346A= (p.Pro1782=) c.5337A= (p.Pro1779=) | |
| 5 | g.37051787A>C | CA443909375 | NIPBL | c.6963A>C (p.Pro2321=) n.845A>C c.1-12791A>C (n.1-12791A>C) c.6219A>C (p.Pro2073=) c.6765A>C (p.Pro2255=) c.6582A>C (p.Pro2194=) c.6303A>C (p.Pro2101=) c.5346A>C (p.Pro1782=) c.5337A>C (p.Pro1779=) | |
| 5 | g.37051787A>G | CA3237108 | NIPBL | c.6963A>G (p.Pro2321=) n.845A>G c.1-12791A>G (n.1-12791A>G) c.6219A>G (p.Pro2073=) c.6765A>G (p.Pro2255=) c.6582A>G (p.Pro2194=) c.6303A>G (p.Pro2101=) c.5346A>G (p.Pro1782=) c.5337A>G (p.Pro1779=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37051787A>T | CA443909378 | NIPBL | c.6963A>T (p.Pro2321=) n.845A>T c.1-12791A>T (n.1-12791A>T) c.6219A>T (p.Pro2073=) c.6765A>T (p.Pro2255=) c.6582A>T (p.Pro2194=) c.6303A>T (p.Pro2101=) c.5346A>T (p.Pro1782=) c.5337A>T (p.Pro1779=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37051788T>A | CA359509497 | NIPBL | c.6964T>A (p.Tyr2322Asn) n.846T>A c.1-12790T>A (n.1-12790T>A) c.6220T>A (p.Tyr2074Asn) c.6766T>A (p.Tyr2256Asn) c.6583T>A (p.Tyr2195Asn) c.6304T>A (p.Tyr2102Asn) c.5347T>A (p.Tyr1783Asn) c.5338T>A (p.Tyr1780Asn) | |
| 5 | g.37051788T>C | CA359509504 | NIPBL | c.6964T>C (p.Tyr2322His) n.846T>C c.1-12790T>C (n.1-12790T>C) c.6220T>C (p.Tyr2074His) c.6766T>C (p.Tyr2256His) c.6583T>C (p.Tyr2195His) c.6304T>C (p.Tyr2102His) c.5347T>C (p.Tyr1783His) c.5338T>C (p.Tyr1780His) | |
| 5 | g.37051788T>G | CA359509507 | NIPBL | c.6964T>G (p.Tyr2322Asp) n.846T>G c.1-12790T>G (n.1-12790T>G) c.6220T>G (p.Tyr2074Asp) c.6766T>G (p.Tyr2256Asp) c.6583T>G (p.Tyr2195Asp) c.6304T>G (p.Tyr2102Asp) c.5347T>G (p.Tyr1783Asp) c.5338T>G (p.Tyr1780Asp) | |
| 5 | g.37051789A>C | CA359509511 | NIPBL | c.6965A>C (p.Tyr2322Ser) n.847A>C c.1-12789A>C (n.1-12789A>C) c.6221A>C (p.Tyr2074Ser) c.6767A>C (p.Tyr2256Ser) c.6584A>C (p.Tyr2195Ser) c.6305A>C (p.Tyr2102Ser) c.5348A>C (p.Tyr1783Ser) c.5339A>C (p.Tyr1780Ser) | |
| 5 | g.37051789A>G | CA359509514 | NIPBL | c.6965A>G (p.Tyr2322Cys) n.847A>G c.1-12789A>G (n.1-12789A>G) c.6221A>G (p.Tyr2074Cys) c.6767A>G (p.Tyr2256Cys) c.6584A>G (p.Tyr2195Cys) c.6305A>G (p.Tyr2102Cys) c.5348A>G (p.Tyr1783Cys) c.5339A>G (p.Tyr1780Cys) | gnomAD v4 |
| 5 | g.37051789A>T | CA359509512 | NIPBL | c.6965A>T (p.Tyr2322Phe) n.847A>T c.1-12789A>T (n.1-12789A>T) c.6221A>T (p.Tyr2074Phe) c.6767A>T (p.Tyr2256Phe) c.6584A>T (p.Tyr2195Phe) c.6305A>T (p.Tyr2102Phe) c.5348A>T (p.Tyr1783Phe) c.5339A>T (p.Tyr1780Phe) | gnomAD v4 |
| 5 | g.37051792_37051796dup | CA2695204429 | NIPBL | c.6968_6972dup (p.Ala2325Ter) n.850_854dup c.1-12786_1-12782dup (n.1-12786_1-12782dup) c.6224_6228dup (p.Ala2077Ter) c.6770_6774dup (p.Ala2259Ter) c.6587_6591dup (p.Ala2198Ter) c.6308_6312dup (p.Ala2105Ter) c.5351_5355dup (p.Ala1786Ter) c.5342_5346dup (p.Ala1783Ter) | |
| 5 | g.37051790T>A | CA359509516 | NIPBL | c.6966T>A (p.Tyr2322Ter) n.848T>A c.1-12788T>A (n.1-12788T>A) c.6222T>A (p.Tyr2074Ter) c.6768T>A (p.Tyr2256Ter) c.6585T>A (p.Tyr2195Ter) c.6306T>A (p.Tyr2102Ter) c.5349T>A (p.Tyr1783Ter) c.5340T>A (p.Tyr1780Ter) | |
| 5 | g.37051790T>C | CA443909390 | NIPBL | c.6966T>C (p.Tyr2322=) n.848T>C c.1-12788T>C (n.1-12788T>C) c.6222T>C (p.Tyr2074=) c.6768T>C (p.Tyr2256=) c.6585T>C (p.Tyr2195=) c.6306T>C (p.Tyr2102=) c.5349T>C (p.Tyr1783=) c.5340T>C (p.Tyr1780=) | |
| 5 | g.37051790T>G | CA359509518 | NIPBL | c.6966T>G (p.Tyr2322Ter) n.848T>G c.1-12788T>G (n.1-12788T>G) c.6222T>G (p.Tyr2074Ter) c.6768T>G (p.Tyr2256Ter) c.6585T>G (p.Tyr2195Ter) c.6306T>G (p.Tyr2102Ter) c.5349T>G (p.Tyr1783Ter) c.5340T>G (p.Tyr1780Ter) | |
| 5 | g.37051791T>A | CA359509523 | NIPBL | c.6967T>A (p.Leu2323Ile) n.849T>A c.1-12787T>A (n.1-12787T>A) c.6223T>A (p.Leu2075Ile) c.6769T>A (p.Leu2257Ile) c.6586T>A (p.Leu2196Ile) c.6307T>A (p.Leu2103Ile) c.5350T>A (p.Leu1784Ile) c.5341T>A (p.Leu1781Ile) | |
| 5 | g.37051791T>C | CA443909393 | NIPBL | c.6967T>C (p.Leu2323=) n.849T>C c.1-12787T>C (n.1-12787T>C) c.6223T>C (p.Leu2075=) c.6769T>C (p.Leu2257=) c.6586T>C (p.Leu2196=) c.6307T>C (p.Leu2103=) c.5350T>C (p.Leu1784=) c.5341T>C (p.Leu1781=) | |
| 5 | g.37051791T>G | CA359509527 | NIPBL | c.6967T>G (p.Leu2323Val) n.849T>G c.1-12787T>G (n.1-12787T>G) c.6223T>G (p.Leu2075Val) c.6769T>G (p.Leu2257Val) c.6586T>G (p.Leu2196Val) c.6307T>G (p.Leu2103Val) c.5350T>G (p.Leu1784Val) c.5341T>G (p.Leu1781Val) | |
| 5 | g.37051792T>A | CA359509530 | NIPBL | c.6968T>A (p.Leu2323Ter) n.850T>A c.1-12786T>A (n.1-12786T>A) c.6224T>A (p.Leu2075Ter) c.6770T>A (p.Leu2257Ter) c.6587T>A (p.Leu2196Ter) c.6308T>A (p.Leu2103Ter) c.5351T>A (p.Leu1784Ter) c.5342T>A (p.Leu1781Ter) | |
| 5 | g.37051792T>C | CA359509533 | NIPBL | c.6968T>C (p.Leu2323Ser) n.850T>C c.1-12786T>C (n.1-12786T>C) c.6224T>C (p.Leu2075Ser) c.6770T>C (p.Leu2257Ser) c.6587T>C (p.Leu2196Ser) c.6308T>C (p.Leu2103Ser) c.5351T>C (p.Leu1784Ser) c.5342T>C (p.Leu1781Ser) | |
| 5 | g.37051792T>G | CA359509537 | NIPBL | c.6968T>G (p.Leu2323Ter) n.850T>G c.1-12786T>G (n.1-12786T>G) c.6224T>G (p.Leu2075Ter) c.6770T>G (p.Leu2257Ter) c.6587T>G (p.Leu2196Ter) c.6308T>G (p.Leu2103Ter) c.5351T>G (p.Leu1784Ter) c.5342T>G (p.Leu1781Ter) | |
| 5 | g.37051793A>C | CA359509541 | NIPBL | c.6969A>C (p.Leu2323Phe) n.851A>C c.1-12785A>C (n.1-12785A>C) c.6225A>C (p.Leu2075Phe) c.6771A>C (p.Leu2257Phe) c.6588A>C (p.Leu2196Phe) c.6309A>C (p.Leu2103Phe) c.5352A>C (p.Leu1784Phe) c.5343A>C (p.Leu1781Phe) | |
| 5 | g.37051793A>G | CA443909402 | NIPBL | c.6969A>G (p.Leu2323=) n.851A>G c.1-12785A>G (n.1-12785A>G) c.6225A>G (p.Leu2075=) c.6771A>G (p.Leu2257=) c.6588A>G (p.Leu2196=) c.6309A>G (p.Leu2103=) c.5352A>G (p.Leu1784=) c.5343A>G (p.Leu1781=) | |
| 5 | g.37051793A>T | CA359509543 | NIPBL | c.6969A>T (p.Leu2323Phe) n.851A>T c.1-12785A>T (n.1-12785A>T) c.6225A>T (p.Leu2075Phe) c.6771A>T (p.Leu2257Phe) c.6588A>T (p.Leu2196Phe) c.6309A>T (p.Leu2103Phe) c.5352A>T (p.Leu1784Phe) c.5343A>T (p.Leu1781Phe) | |
| 5 | g.37051794A= | CA1539571317 | NIPBL | c.6970A= (p.Ile2324=) n.852A= c.1-12784A= (n.1-12784A=) c.6226A= (p.Ile2076=) c.6772A= (p.Ile2258=) c.6589A= (p.Ile2197=) c.6310A= (p.Ile2104=) c.5353A= (p.Ile1785=) c.5344A= (p.Ile1782=) | |
| 5 | g.37051794A>C | CA359509545 | NIPBL | c.6970A>C (p.Ile2324Leu) n.852A>C c.1-12784A>C (n.1-12784A>C) c.6226A>C (p.Ile2076Leu) c.6772A>C (p.Ile2258Leu) c.6589A>C (p.Ile2197Leu) c.6310A>C (p.Ile2104Leu) c.5353A>C (p.Ile1785Leu) c.5344A>C (p.Ile1782Leu) | |
| 5 | g.37051794A>G | CA117050991 | NIPBL | c.6970A>G (p.Ile2324Val) n.852A>G c.1-12784A>G (n.1-12784A>G) c.6226A>G (p.Ile2076Val) c.6772A>G (p.Ile2258Val) c.6589A>G (p.Ile2197Val) c.6310A>G (p.Ile2104Val) c.5353A>G (p.Ile1785Val) c.5344A>G (p.Ile1782Val) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37051794A>T | CA359509547 | NIPBL | c.6970A>T (p.Ile2324Phe) n.852A>T c.1-12784A>T (n.1-12784A>T) c.6226A>T (p.Ile2076Phe) c.6772A>T (p.Ile2258Phe) c.6589A>T (p.Ile2197Phe) c.6310A>T (p.Ile2104Phe) c.5353A>T (p.Ile1785Phe) c.5344A>T (p.Ile1782Phe) | |
| 5 | g.37051795T>A | CA359509550 | NIPBL | c.6971T>A (p.Ile2324Asn) n.853T>A c.1-12783T>A (n.1-12783T>A) c.6227T>A (p.Ile2076Asn) c.6773T>A (p.Ile2258Asn) c.6590T>A (p.Ile2197Asn) c.6311T>A (p.Ile2104Asn) c.5354T>A (p.Ile1785Asn) c.5345T>A (p.Ile1782Asn) | |
| 5 | g.37051795T>C | CA359509555 | NIPBL | c.6971T>C (p.Ile2324Thr) n.853T>C c.1-12783T>C (n.1-12783T>C) c.6227T>C (p.Ile2076Thr) c.6773T>C (p.Ile2258Thr) c.6590T>C (p.Ile2197Thr) c.6311T>C (p.Ile2104Thr) c.5354T>C (p.Ile1785Thr) c.5345T>C (p.Ile1782Thr) | |
| 5 | g.37051795T>G | CA359509553 | NIPBL | c.6971T>G (p.Ile2324Ser) n.853T>G c.1-12783T>G (n.1-12783T>G) c.6227T>G (p.Ile2076Ser) c.6773T>G (p.Ile2258Ser) c.6590T>G (p.Ile2197Ser) c.6311T>G (p.Ile2104Ser) c.5354T>G (p.Ile1785Ser) c.5345T>G (p.Ile1782Ser) | |
| 5 | g.37051796T>A | CA443909414 | NIPBL | c.6972T>A (p.Ile2324=) n.854T>A c.1-12782T>A (n.1-12782T>A) c.6228T>A (p.Ile2076=) c.6774T>A (p.Ile2258=) c.6591T>A (p.Ile2197=) c.6312T>A (p.Ile2104=) c.5355T>A (p.Ile1785=) c.5346T>A (p.Ile1782=) | |
| 5 | g.37051796T>C | CA443909416 | NIPBL | c.6972T>C (p.Ile2324=) n.854T>C c.1-12782T>C (n.1-12782T>C) c.6228T>C (p.Ile2076=) c.6774T>C (p.Ile2258=) c.6591T>C (p.Ile2197=) c.6312T>C (p.Ile2104=) c.5355T>C (p.Ile1785=) c.5346T>C (p.Ile1782=) | |
| 5 | g.37051796T>G | CA359509559 | NIPBL | c.6972T>G (p.Ile2324Met) n.854T>G c.1-12782T>G (n.1-12782T>G) c.6228T>G (p.Ile2076Met) c.6774T>G (p.Ile2258Met) c.6591T>G (p.Ile2197Met) c.6312T>G (p.Ile2104Met) c.5355T>G (p.Ile1785Met) c.5346T>G (p.Ile1782Met) | |
| 5 | g.37051797G>A | CA359509563 | NIPBL | c.6973G>A (p.Ala2325Thr) n.855G>A c.1-12781G>A (n.1-12781G>A) c.6229G>A (p.Ala2077Thr) c.6775G>A (p.Ala2259Thr) c.6592G>A (p.Ala2198Thr) c.6313G>A (p.Ala2105Thr) c.5356G>A (p.Ala1786Thr) c.5347G>A (p.Ala1783Thr) | |
| 5 | g.37051797G>C | CA359509564 | NIPBL | c.6973G>C (p.Ala2325Pro) n.855G>C c.1-12781G>C (n.1-12781G>C) c.6229G>C (p.Ala2077Pro) c.6775G>C (p.Ala2259Pro) c.6592G>C (p.Ala2198Pro) c.6313G>C (p.Ala2105Pro) c.5356G>C (p.Ala1786Pro) c.5347G>C (p.Ala1783Pro) | |
| 5 | g.37051797G>T | CA359509565 | NIPBL | c.6973G>T (p.Ala2325Ser) n.855G>T c.1-12781G>T (n.1-12781G>T) c.6229G>T (p.Ala2077Ser) c.6775G>T (p.Ala2259Ser) c.6592G>T (p.Ala2198Ser) c.6313G>T (p.Ala2105Ser) c.5356G>T (p.Ala1786Ser) c.5347G>T (p.Ala1783Ser) | |
| 5 | g.37051798C>A | CA359509566 | NIPBL | c.6974C>A (p.Ala2325Asp) n.856C>A c.1-12780C>A (n.1-12780C>A) c.6230C>A (p.Ala2077Asp) c.6776C>A (p.Ala2259Asp) c.6593C>A (p.Ala2198Asp) c.6314C>A (p.Ala2105Asp) c.5357C>A (p.Ala1786Asp) c.5348C>A (p.Ala1783Asp) | |
| 5 | g.37051798C>G | CA359509567 | NIPBL | c.6974C>G (p.Ala2325Gly) n.856C>G c.1-12780C>G (n.1-12780C>G) c.6230C>G (p.Ala2077Gly) c.6776C>G (p.Ala2259Gly) c.6593C>G (p.Ala2198Gly) c.6314C>G (p.Ala2105Gly) c.5357C>G (p.Ala1786Gly) c.5348C>G (p.Ala1783Gly) | |
| 5 | g.37051798C>T | CA359509568 | NIPBL | c.6974C>T (p.Ala2325Val) n.856C>T c.1-12780C>T (n.1-12780C>T) c.6230C>T (p.Ala2077Val) c.6776C>T (p.Ala2259Val) c.6593C>T (p.Ala2198Val) c.6314C>T (p.Ala2105Val) c.5357C>T (p.Ala1786Val) c.5348C>T (p.Ala1783Val) | |
| 5 | g.37051799T>A | CA443909427 | NIPBL | c.6975T>A (p.Ala2325=) n.857T>A c.1-12779T>A (n.1-12779T>A) c.6231T>A (p.Ala2077=) c.6777T>A (p.Ala2259=) c.6594T>A (p.Ala2198=) c.6315T>A (p.Ala2105=) c.5358T>A (p.Ala1786=) c.5349T>A (p.Ala1783=) | |
| 5 | g.37051799T>C | CA443909429 | NIPBL | c.6975T>C (p.Ala2325=) n.857T>C c.1-12779T>C (n.1-12779T>C) c.6231T>C (p.Ala2077=) c.6777T>C (p.Ala2259=) c.6594T>C (p.Ala2198=) c.6315T>C (p.Ala2105=) c.5358T>C (p.Ala1786=) c.5349T>C (p.Ala1783=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37051799T>G | CA443909431 | NIPBL | c.6975T>G (p.Ala2325=) n.857T>G c.1-12779T>G (n.1-12779T>G) c.6231T>G (p.Ala2077=) c.6777T>G (p.Ala2259=) c.6594T>G (p.Ala2198=) c.6315T>G (p.Ala2105=) c.5358T>G (p.Ala1786=) c.5349T>G (p.Ala1783=) | |
| 5 | g.37051799T= | CA1539571319 | NIPBL | c.6975T= (p.Ala2325=) n.857T= c.1-12779T= (n.1-12779T=) c.6231T= (p.Ala2077=) c.6777T= (p.Ala2259=) c.6594T= (p.Ala2198=) c.6315T= (p.Ala2105=) c.5358T= (p.Ala1786=) c.5349T= (p.Ala1783=) | |
| 5 | g.37051800A= | CA1539571324 | NIPBL | c.6976A= (p.Met2326=) n.858A= c.1-12778A= (n.1-12778A=) c.6232A= (p.Met2078=) c.6778A= (p.Met2260=) c.6595A= (p.Met2199=) c.6316A= (p.Met2106=) c.5359A= (p.Met1787=) c.5350A= (p.Met1784=) | |
| 5 | g.37051800A>C | CA359509571 | NIPBL | c.6976A>C (p.Met2326Leu) n.858A>C c.1-12778A>C (n.1-12778A>C) c.6232A>C (p.Met2078Leu) c.6778A>C (p.Met2260Leu) c.6595A>C (p.Met2199Leu) c.6316A>C (p.Met2106Leu) c.5359A>C (p.Met1787Leu) c.5350A>C (p.Met1784Leu) |