UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37060853_37060878delinsGAAGTACTCTCCATCTGAATCTGCAA | CA1539582988 | NIPBL | c.7695_7720delinsGAAGTACTCTCCATCTGAATCTGCAA (p.Gln2565=) c.7548_7573delinsGAAGTACTCTCCATCTGAATCTGCAA (p.Gln2516=) c.263+1688_263+1713delinsGAAGTACTCTCCATCTGAATCTGCAA (n.263+1688_263+1713delinsGAAGTACTCTCCATCTGAATCTGCAA) n.1577_1602delinsGAAGTACTCTCCATCTGAATCTGCAA c.1-3725_1-3700delinsGAAGTACTCTCCATCTGAATCTGCAA (n.1-3725_1-3700delinsGAAGTACTCTCCATCTGAATCTGCAA) c.6951_6976delinsGAAGTACTCTCCATCTGAATCTGCAA (p.Gln2317=) c.7497_7522delinsGAAGTACTCTCCATCTGAATCTGCAA (p.Gln2499=) c.7314_7339delinsGAAGTACTCTCCATCTGAATCTGCAA (p.Gln2438=) c.*7_*32delinsGAAGTACTCTCCATCTGAATCTGCAA (n.*7_*32delinsGAAGTACTCTCCATCTGAATCTGCAA) c.7035_7060delinsGAAGTACTCTCCATCTGAATCTGCAA (p.Gln2345=) c.6078_6103delinsGAAGTACTCTCCATCTGAATCTGCAA (p.Gln2026=) c.6069_6094delinsGAAGTACTCTCCATCTGAATCTGCAA (p.Gln2023=) | |
| 5 | g.37060859_37060883del | CA272317 | NIPBL | c.7701_7725del (p.Ser2568MetfsTer5) c.7554_7578del (p.Ser2519MetfsTer5) c.263+1694_263+1718del (n.263+1694_263+1718del) n.1583_1607del c.1-3719_1-3695del (n.1-3719_1-3695del) c.6957_6981del (p.Ser2320MetfsTer5) c.7503_7527del (p.Ser2502MetfsTer5) c.7320_7344del (p.Ser2441MetfsTer5) c.*13_*37del (n.*13_*37del) c.7041_7065del (p.Ser2348MetfsTer5) c.6084_6108del (p.Ser2029MetfsTer5) c.6075_6099del (p.Ser2026MetfsTer5) | ClinVar dbSNP |
| 5 | g.37060875G>A | CA359518384 | NIPBL | c.7717G>A (p.Ala2573Thr) c.7570G>A (p.Ala2524Thr) c.263+1710G>A (n.263+1710G>A) n.1599G>A c.1-3703G>A (n.1-3703G>A) c.6973G>A (p.Ala2325Thr) c.7519G>A (p.Ala2507Thr) c.7336G>A (p.Ala2446Thr) c.*29G>A (n.*29G>A) c.7057G>A (p.Ala2353Thr) c.6100G>A (p.Ala2034Thr) c.6091G>A (p.Ala2031Thr) | dbSNP gnomAD v4 |
| 5 | g.37060875G>C | CA359518385 | NIPBL | c.7717G>C (p.Ala2573Pro) c.7570G>C (p.Ala2524Pro) c.263+1710G>C (n.263+1710G>C) n.1599G>C c.1-3703G>C (n.1-3703G>C) c.6973G>C (p.Ala2325Pro) c.7519G>C (p.Ala2507Pro) c.7336G>C (p.Ala2446Pro) c.*29G>C (n.*29G>C) c.7057G>C (p.Ala2353Pro) c.6100G>C (p.Ala2034Pro) c.6091G>C (p.Ala2031Pro) | |
| 5 | g.37060875G>T | CA359518389 | NIPBL | c.7717G>T (p.Ala2573Ser) c.7570G>T (p.Ala2524Ser) c.263+1710G>T (n.263+1710G>T) n.1599G>T c.1-3703G>T (n.1-3703G>T) c.6973G>T (p.Ala2325Ser) c.7519G>T (p.Ala2507Ser) c.7336G>T (p.Ala2446Ser) c.*29G>T (n.*29G>T) c.7057G>T (p.Ala2353Ser) c.6100G>T (p.Ala2034Ser) c.6091G>T (p.Ala2031Ser) | |
| 5 | g.37060876C>A | CA359518391 | NIPBL | c.7718C>A (p.Ala2573Glu) c.7571C>A (p.Ala2524Glu) c.263+1711C>A (n.263+1711C>A) n.1600C>A c.1-3702C>A (n.1-3702C>A) c.6974C>A (p.Ala2325Glu) c.7520C>A (p.Ala2507Glu) c.7337C>A (p.Ala2446Glu) c.*30C>A (n.*30C>A) c.7058C>A (p.Ala2353Glu) c.6101C>A (p.Ala2034Glu) c.6092C>A (p.Ala2031Glu) | COSMIC COSMIC |
| 5 | g.37060876C>G | CA359518393 | NIPBL | c.7718C>G (p.Ala2573Gly) c.7571C>G (p.Ala2524Gly) c.263+1711C>G (n.263+1711C>G) n.1600C>G c.1-3702C>G (n.1-3702C>G) c.6974C>G (p.Ala2325Gly) c.7520C>G (p.Ala2507Gly) c.7337C>G (p.Ala2446Gly) c.*30C>G (n.*30C>G) c.7058C>G (p.Ala2353Gly) c.6101C>G (p.Ala2034Gly) c.6092C>G (p.Ala2031Gly) | |
| 5 | g.37060876C>T | CA359518395 | NIPBL | c.7718C>T (p.Ala2573Val) c.7571C>T (p.Ala2524Val) c.263+1711C>T (n.263+1711C>T) n.1600C>T c.1-3702C>T (n.1-3702C>T) c.6974C>T (p.Ala2325Val) c.7520C>T (p.Ala2507Val) c.7337C>T (p.Ala2446Val) c.*30C>T (n.*30C>T) c.7058C>T (p.Ala2353Val) c.6101C>T (p.Ala2034Val) c.6092C>T (p.Ala2031Val) | |
| 5 | g.37060877A= | CA1539583017 | NIPBL | c.7719A= (p.Ala2573=) c.7572A= (p.Ala2524=) c.263+1712A= (n.263+1712A=) n.1601A= c.1-3701A= (n.1-3701A=) c.6975A= (p.Ala2325=) c.7521A= (p.Ala2507=) c.7338A= (p.Ala2446=) c.*31A= (n.*31A=) c.7059A= (p.Ala2353=) c.6102A= (p.Ala2034=) c.6093A= (p.Ala2031=) | |
| 5 | g.37060877A>C | CA3237258 | NIPBL | c.7719A>C (p.Ala2573=) c.7572A>C (p.Ala2524=) c.263+1712A>C (n.263+1712A>C) n.1601A>C c.1-3701A>C (n.1-3701A>C) c.6975A>C (p.Ala2325=) c.7521A>C (p.Ala2507=) c.7338A>C (p.Ala2446=) c.*31A>C (n.*31A>C) c.7059A>C (p.Ala2353=) c.6102A>C (p.Ala2034=) c.6093A>C (p.Ala2031=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37060877A>G | CA443916225 | NIPBL | c.7719A>G (p.Ala2573=) c.7572A>G (p.Ala2524=) c.263+1712A>G (n.263+1712A>G) n.1601A>G c.1-3701A>G (n.1-3701A>G) c.6975A>G (p.Ala2325=) c.7521A>G (p.Ala2507=) c.7338A>G (p.Ala2446=) c.*31A>G (n.*31A>G) c.7059A>G (p.Ala2353=) c.6102A>G (p.Ala2034=) c.6093A>G (p.Ala2031=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37060877A>T | CA443916224 | NIPBL | c.7719A>T (p.Ala2573=) c.7572A>T (p.Ala2524=) c.263+1712A>T (n.263+1712A>T) n.1601A>T c.1-3701A>T (n.1-3701A>T) c.6975A>T (p.Ala2325=) c.7521A>T (p.Ala2507=) c.7338A>T (p.Ala2446=) c.*31A>T (n.*31A>T) c.7059A>T (p.Ala2353=) c.6102A>T (p.Ala2034=) c.6093A>T (p.Ala2031=) | |
| 5 | g.37060878A>C | CA359518403 | NIPBL | c.7720A>C (p.Lys2574Gln) c.7573A>C (p.Lys2525Gln) c.263+1713A>C (n.263+1713A>C) n.1602A>C c.1-3700A>C (n.1-3700A>C) c.6976A>C (p.Lys2326Gln) c.7522A>C (p.Lys2508Gln) c.7339A>C (p.Lys2447Gln) c.*32A>C (n.*32A>C) c.7060A>C (p.Lys2354Gln) c.6103A>C (p.Lys2035Gln) c.6094A>C (p.Lys2032Gln) | |
| 5 | g.37060878A>G | CA359518405 | NIPBL | c.7720A>G (p.Lys2574Glu) c.7573A>G (p.Lys2525Glu) c.263+1713A>G (n.263+1713A>G) n.1602A>G c.1-3700A>G (n.1-3700A>G) c.6976A>G (p.Lys2326Glu) c.7522A>G (p.Lys2508Glu) c.7339A>G (p.Lys2447Glu) c.*32A>G (n.*32A>G) c.7060A>G (p.Lys2354Glu) c.6103A>G (p.Lys2035Glu) c.6094A>G (p.Lys2032Glu) | |
| 5 | g.37060878A>T | CA359518401 | NIPBL | c.7720A>T (p.Lys2574Ter) c.7573A>T (p.Lys2525Ter) c.263+1713A>T (n.263+1713A>T) n.1602A>T c.1-3700A>T (n.1-3700A>T) c.6976A>T (p.Lys2326Ter) c.7522A>T (p.Lys2508Ter) c.7339A>T (p.Lys2447Ter) c.*32A>T (n.*32A>T) c.7060A>T (p.Lys2354Ter) c.6103A>T (p.Lys2035Ter) c.6094A>T (p.Lys2032Ter) | |
| 5 | g.37060879A>C | CA359518406 | NIPBL | c.7721A>C (p.Lys2574Thr) c.7574A>C (p.Lys2525Thr) c.263+1714A>C (n.263+1714A>C) n.1603A>C c.1-3699A>C (n.1-3699A>C) c.6977A>C (p.Lys2326Thr) c.7523A>C (p.Lys2508Thr) c.7340A>C (p.Lys2447Thr) c.*33A>C (n.*33A>C) c.7061A>C (p.Lys2354Thr) c.6104A>C (p.Lys2035Thr) c.6095A>C (p.Lys2032Thr) | |
| 5 | g.37060879A>G | CA359518410 | NIPBL | c.7721A>G (p.Lys2574Arg) c.7574A>G (p.Lys2525Arg) c.263+1714A>G (n.263+1714A>G) n.1603A>G c.1-3699A>G (n.1-3699A>G) c.6977A>G (p.Lys2326Arg) c.7523A>G (p.Lys2508Arg) c.7340A>G (p.Lys2447Arg) c.*33A>G (n.*33A>G) c.7061A>G (p.Lys2354Arg) c.6104A>G (p.Lys2035Arg) c.6095A>G (p.Lys2032Arg) | |
| 5 | g.37060879A>T | CA359518407 | NIPBL | c.7721A>T (p.Lys2574Ile) c.7574A>T (p.Lys2525Ile) c.263+1714A>T (n.263+1714A>T) n.1603A>T c.1-3699A>T (n.1-3699A>T) c.6977A>T (p.Lys2326Ile) c.7523A>T (p.Lys2508Ile) c.7340A>T (p.Lys2447Ile) c.*33A>T (n.*33A>T) c.7061A>T (p.Lys2354Ile) c.6104A>T (p.Lys2035Ile) c.6095A>T (p.Lys2032Ile) | |
| 5 | g.37060880A>C | CA359518411 | NIPBL | c.7722A>C (p.Lys2574Asn) c.7575A>C (p.Lys2525Asn) c.263+1715A>C (n.263+1715A>C) n.1604A>C c.1-3698A>C (n.1-3698A>C) c.6978A>C (p.Lys2326Asn) c.7524A>C (p.Lys2508Asn) c.7341A>C (p.Lys2447Asn) c.*34A>C (n.*34A>C) c.7062A>C (p.Lys2354Asn) c.6105A>C (p.Lys2035Asn) c.6096A>C (p.Lys2032Asn) | |
| 5 | g.37060880A>G | CA443916227 | NIPBL | c.7722A>G (p.Lys2574=) c.7575A>G (p.Lys2525=) c.263+1715A>G (n.263+1715A>G) n.1604A>G c.1-3698A>G (n.1-3698A>G) c.6978A>G (p.Lys2326=) c.7524A>G (p.Lys2508=) c.7341A>G (p.Lys2447=) c.*34A>G (n.*34A>G) c.7062A>G (p.Lys2354=) c.6105A>G (p.Lys2035=) c.6096A>G (p.Lys2032=) | |
| 5 | g.37060880A>T | CA359518413 | NIPBL | c.7722A>T (p.Lys2574Asn) c.7575A>T (p.Lys2525Asn) c.263+1715A>T (n.263+1715A>T) n.1604A>T c.1-3698A>T (n.1-3698A>T) c.6978A>T (p.Lys2326Asn) c.7524A>T (p.Lys2508Asn) c.7341A>T (p.Lys2447Asn) c.*34A>T (n.*34A>T) c.7062A>T (p.Lys2354Asn) c.6105A>T (p.Lys2035Asn) c.6096A>T (p.Lys2032Asn) | |
| 5 | g.37060881G>A | CA117056845 | NIPBL | c.7723G>A (p.Val2575Ile) c.7576G>A (p.Val2526Ile) c.263+1716G>A (n.263+1716G>A) n.1605G>A c.1-3697G>A (n.1-3697G>A) c.6979G>A (p.Val2327Ile) c.7525G>A (p.Val2509Ile) c.7342G>A (p.Val2448Ile) c.*35G>A (n.*35G>A) c.7063G>A (p.Val2355Ile) c.6106G>A (p.Val2036Ile) c.6097G>A (p.Val2033Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37060881G>C | CA359518417 | NIPBL | c.7723G>C (p.Val2575Leu) c.7576G>C (p.Val2526Leu) c.263+1716G>C (n.263+1716G>C) n.1605G>C c.1-3697G>C (n.1-3697G>C) c.6979G>C (p.Val2327Leu) c.7525G>C (p.Val2509Leu) c.7342G>C (p.Val2448Leu) c.*35G>C (n.*35G>C) c.7063G>C (p.Val2355Leu) c.6106G>C (p.Val2036Leu) c.6097G>C (p.Val2033Leu) | |
| 5 | g.37060881G= | CA1539583020 | NIPBL | c.7723G= (p.Val2575=) c.7576G= (p.Val2526=) c.263+1716G= (n.263+1716G=) n.1605G= c.1-3697G= (n.1-3697G=) c.6979G= (p.Val2327=) c.7525G= (p.Val2509=) c.7342G= (p.Val2448=) c.*35G= (n.*35G=) c.7063G= (p.Val2355=) c.6106G= (p.Val2036=) c.6097G= (p.Val2033=) | |
| 5 | g.37060881G>T | CA359518422 | NIPBL | c.7723G>T (p.Val2575Leu) c.7576G>T (p.Val2526Leu) c.263+1716G>T (n.263+1716G>T) n.1605G>T c.1-3697G>T (n.1-3697G>T) c.6979G>T (p.Val2327Leu) c.7525G>T (p.Val2509Leu) c.7342G>T (p.Val2448Leu) c.*35G>T (n.*35G>T) c.7063G>T (p.Val2355Leu) c.6106G>T (p.Val2036Leu) c.6097G>T (p.Val2033Leu) | |
| 5 | g.37060882T>A | CA359518423 | NIPBL | c.7724T>A (p.Val2575Glu) c.7577T>A (p.Val2526Glu) c.263+1717T>A (n.263+1717T>A) n.1606T>A c.1-3696T>A (n.1-3696T>A) c.6980T>A (p.Val2327Glu) c.7526T>A (p.Val2509Glu) c.7343T>A (p.Val2448Glu) c.*36T>A (n.*36T>A) c.7064T>A (p.Val2355Glu) c.6107T>A (p.Val2036Glu) c.6098T>A (p.Val2033Glu) | |
| 5 | g.37060882T>C | CA359518425 | NIPBL | c.7724T>C (p.Val2575Ala) c.7577T>C (p.Val2526Ala) c.263+1717T>C (n.263+1717T>C) n.1606T>C c.1-3696T>C (n.1-3696T>C) c.6980T>C (p.Val2327Ala) c.7526T>C (p.Val2509Ala) c.7343T>C (p.Val2448Ala) c.*36T>C (n.*36T>C) c.7064T>C (p.Val2355Ala) c.6107T>C (p.Val2036Ala) c.6098T>C (p.Val2033Ala) | |
| 5 | g.37060882T>G | CA359518426 | NIPBL | c.7724T>G (p.Val2575Gly) c.7577T>G (p.Val2526Gly) c.263+1717T>G (n.263+1717T>G) n.1606T>G c.1-3696T>G (n.1-3696T>G) c.6980T>G (p.Val2327Gly) c.7526T>G (p.Val2509Gly) c.7343T>G (p.Val2448Gly) c.*36T>G (n.*36T>G) c.7064T>G (p.Val2355Gly) c.6107T>G (p.Val2036Gly) c.6098T>G (p.Val2033Gly) | |
| 5 | g.37060883A= | CA1539583023 | NIPBL | c.7725A= (p.Val2575=) c.7578A= (p.Val2526=) c.263+1718A= (n.263+1718A=) n.1607A= c.1-3695A= (n.1-3695A=) c.6981A= (p.Val2327=) c.7527A= (p.Val2509=) c.7344A= (p.Val2448=) c.*37A= (n.*37A=) c.7065A= (p.Val2355=) c.6108A= (p.Val2036=) c.6099A= (p.Val2033=) | |
| 5 | g.37060883A>C | CA443916231 | NIPBL | c.7725A>C (p.Val2575=) c.7578A>C (p.Val2526=) c.263+1718A>C (n.263+1718A>C) n.1607A>C c.1-3695A>C (n.1-3695A>C) c.6981A>C (p.Val2327=) c.7527A>C (p.Val2509=) c.7344A>C (p.Val2448=) c.*37A>C (n.*37A>C) c.7065A>C (p.Val2355=) c.6108A>C (p.Val2036=) c.6099A>C (p.Val2033=) | dbSNP gnomAD v4 |
| 5 | g.37060883A>G | CA3237259 | NIPBL | c.7725A>G (p.Val2575=) c.7578A>G (p.Val2526=) c.263+1718A>G (n.263+1718A>G) n.1607A>G c.1-3695A>G (n.1-3695A>G) c.6981A>G (p.Val2327=) c.7527A>G (p.Val2509=) c.7344A>G (p.Val2448=) c.*37A>G (n.*37A>G) c.7065A>G (p.Val2355=) c.6108A>G (p.Val2036=) c.6099A>G (p.Val2033=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37060883A>T | CA443916232 | NIPBL | c.7725A>T (p.Val2575=) c.7578A>T (p.Val2526=) c.263+1718A>T (n.263+1718A>T) n.1607A>T c.1-3695A>T (n.1-3695A>T) c.6981A>T (p.Val2327=) c.7527A>T (p.Val2509=) c.7344A>T (p.Val2448=) c.*37A>T (n.*37A>T) c.7065A>T (p.Val2355=) c.6108A>T (p.Val2036=) c.6099A>T (p.Val2033=) | |
| 5 | g.37060884T>A | CA359518429 | NIPBL | c.7726T>A (p.Tyr2576Asn) c.7579T>A (p.Tyr2527Asn) c.263+1719T>A (n.263+1719T>A) n.1608T>A c.1-3694T>A (n.1-3694T>A) c.6982T>A (p.Tyr2328Asn) c.7528T>A (p.Tyr2510Asn) c.7345T>A (p.Tyr2449Asn) c.*38T>A (n.*38T>A) c.7066T>A (p.Tyr2356Asn) c.6109T>A (p.Tyr2037Asn) c.6100T>A (p.Tyr2034Asn) | |
| 5 | g.37060884T>C | CA359518431 | NIPBL | c.7726T>C (p.Tyr2576His) c.7579T>C (p.Tyr2527His) c.263+1719T>C (n.263+1719T>C) n.1608T>C c.1-3694T>C (n.1-3694T>C) c.6982T>C (p.Tyr2328His) c.7528T>C (p.Tyr2510His) c.7345T>C (p.Tyr2449His) c.*38T>C (n.*38T>C) c.7066T>C (p.Tyr2356His) c.6109T>C (p.Tyr2037His) c.6100T>C (p.Tyr2034His) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37060884T>G | CA359518433 | NIPBL | c.7726T>G (p.Tyr2576Asp) c.7579T>G (p.Tyr2527Asp) c.263+1719T>G (n.263+1719T>G) n.1608T>G c.1-3694T>G (n.1-3694T>G) c.6982T>G (p.Tyr2328Asp) c.7528T>G (p.Tyr2510Asp) c.7345T>G (p.Tyr2449Asp) c.*38T>G (n.*38T>G) c.7066T>G (p.Tyr2356Asp) c.6109T>G (p.Tyr2037Asp) c.6100T>G (p.Tyr2034Asp) | |
| 5 | g.37060884T= | CA1539583027 | NIPBL | c.7726T= (p.Tyr2576=) c.7579T= (p.Tyr2527=) c.263+1719T= (n.263+1719T=) n.1608T= c.1-3694T= (n.1-3694T=) c.6982T= (p.Tyr2328=) c.7528T= (p.Tyr2510=) c.7345T= (p.Tyr2449=) c.*38T= (n.*38T=) c.7066T= (p.Tyr2356=) c.6109T= (p.Tyr2037=) c.6100T= (p.Tyr2034=) | |
| 5 | g.37060885A= | CA1539583029 | NIPBL | c.7727A= (p.Tyr2576=) c.7580A= (p.Tyr2527=) c.263+1720A= (n.263+1720A=) n.1609A= c.1-3693A= (n.1-3693A=) c.6983A= (p.Tyr2328=) c.7529A= (p.Tyr2510=) c.7346A= (p.Tyr2449=) c.*39A= (n.*39A=) c.7067A= (p.Tyr2356=) c.6110A= (p.Tyr2037=) c.6101A= (p.Tyr2034=) | |
| 5 | g.37060885A>C | CA359518438 | NIPBL | c.7727A>C (p.Tyr2576Ser) c.7580A>C (p.Tyr2527Ser) c.263+1720A>C (n.263+1720A>C) n.1609A>C c.1-3693A>C (n.1-3693A>C) c.6983A>C (p.Tyr2328Ser) c.7529A>C (p.Tyr2510Ser) c.7346A>C (p.Tyr2449Ser) c.*39A>C (n.*39A>C) c.7067A>C (p.Tyr2356Ser) c.6110A>C (p.Tyr2037Ser) c.6101A>C (p.Tyr2034Ser) | |
| 5 | g.37060885A>G | CA172752 | NIPBL | c.7727A>G (p.Tyr2576Cys) c.7580A>G (p.Tyr2527Cys) c.263+1720A>G (n.263+1720A>G) n.1609A>G c.1-3693A>G (n.1-3693A>G) c.6983A>G (p.Tyr2328Cys) c.7529A>G (p.Tyr2510Cys) c.7346A>G (p.Tyr2449Cys) c.*39A>G (n.*39A>G) c.7067A>G (p.Tyr2356Cys) c.6110A>G (p.Tyr2037Cys) c.6101A>G (p.Tyr2034Cys) | ClinVar dbSNP |
| 5 | g.37060885A>T | CA359518436 | NIPBL | c.7727A>T (p.Tyr2576Phe) c.7580A>T (p.Tyr2527Phe) c.263+1720A>T (n.263+1720A>T) n.1609A>T c.1-3693A>T (n.1-3693A>T) c.6983A>T (p.Tyr2328Phe) c.7529A>T (p.Tyr2510Phe) c.7346A>T (p.Tyr2449Phe) c.*39A>T (n.*39A>T) c.7067A>T (p.Tyr2356Phe) c.6110A>T (p.Tyr2037Phe) c.6101A>T (p.Tyr2034Phe) | gnomAD v4 |
| 5 | g.37060886T>A | CA359518441 | NIPBL | c.7728T>A (p.Tyr2576Ter) c.7581T>A (p.Tyr2527Ter) c.263+1721T>A (n.263+1721T>A) n.1610T>A c.1-3692T>A (n.1-3692T>A) c.6984T>A (p.Tyr2328Ter) c.7530T>A (p.Tyr2510Ter) c.7347T>A (p.Tyr2449Ter) c.*40T>A (n.*40T>A) c.7068T>A (p.Tyr2356Ter) c.6111T>A (p.Tyr2037Ter) c.6102T>A (p.Tyr2034Ter) | |
| 5 | g.37060886T>C | CA245753 | NIPBL | c.7728T>C (p.Tyr2576=) c.7581T>C (p.Tyr2527=) c.263+1721T>C (n.263+1721T>C) n.1610T>C c.1-3692T>C (n.1-3692T>C) c.6984T>C (p.Tyr2328=) c.7530T>C (p.Tyr2510=) c.7347T>C (p.Tyr2449=) c.*40T>C (n.*40T>C) c.7068T>C (p.Tyr2356=) c.6111T>C (p.Tyr2037=) c.6102T>C (p.Tyr2034=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37060886T>G | CA359518445 | NIPBL | c.7728T>G (p.Tyr2576Ter) c.7581T>G (p.Tyr2527Ter) c.263+1721T>G (n.263+1721T>G) n.1610T>G c.1-3692T>G (n.1-3692T>G) c.6984T>G (p.Tyr2328Ter) c.7530T>G (p.Tyr2510Ter) c.7347T>G (p.Tyr2449Ter) c.*40T>G (n.*40T>G) c.7068T>G (p.Tyr2356Ter) c.6111T>G (p.Tyr2037Ter) c.6102T>G (p.Tyr2034Ter) | |
| 5 | g.37060886T= | CA1539583034 | NIPBL | c.7728T= (p.Tyr2576=) c.7581T= (p.Tyr2527=) c.263+1721T= (n.263+1721T=) n.1610T= c.1-3692T= (n.1-3692T=) c.6984T= (p.Tyr2328=) c.7530T= (p.Tyr2510=) c.7347T= (p.Tyr2449=) c.*40T= (n.*40T=) c.7068T= (p.Tyr2356=) c.6111T= (p.Tyr2037=) c.6102T= (p.Tyr2034=) | |
| 5 | g.37060887G>A | CA359518450 | NIPBL | c.7729G>A (p.Asp2577Asn) c.7582G>A (p.Asp2528Asn) c.263+1722G>A (n.263+1722G>A) n.1611G>A c.1-3691G>A (n.1-3691G>A) c.6985G>A (p.Asp2329Asn) c.7531G>A (p.Asp2511Asn) c.7348G>A (p.Asp2450Asn) c.*41G>A (n.*41G>A) c.7069G>A (p.Asp2357Asn) c.6112G>A (p.Asp2038Asn) c.6103G>A (p.Asp2035Asn) | |
| 5 | g.37060887G>C | CA359518453 | NIPBL | c.7729G>C (p.Asp2577His) c.7582G>C (p.Asp2528His) c.263+1722G>C (n.263+1722G>C) n.1611G>C c.1-3691G>C (n.1-3691G>C) c.6985G>C (p.Asp2329His) c.7531G>C (p.Asp2511His) c.7348G>C (p.Asp2450His) c.*41G>C (n.*41G>C) c.7069G>C (p.Asp2357His) c.6112G>C (p.Asp2038His) c.6103G>C (p.Asp2035His) | |
| 5 | g.37060887G>T | CA359518455 | NIPBL | c.7729G>T (p.Asp2577Tyr) c.7582G>T (p.Asp2528Tyr) c.263+1722G>T (n.263+1722G>T) n.1611G>T c.1-3691G>T (n.1-3691G>T) c.6985G>T (p.Asp2329Tyr) c.7531G>T (p.Asp2511Tyr) c.7348G>T (p.Asp2450Tyr) c.*41G>T (n.*41G>T) c.7069G>T (p.Asp2357Tyr) c.6112G>T (p.Asp2038Tyr) c.6103G>T (p.Asp2035Tyr) | |
| 5 | g.37060888A>C | CA359518459 | NIPBL | c.7730A>C (p.Asp2577Ala) c.7583A>C (p.Asp2528Ala) c.263+1723A>C (n.263+1723A>C) n.1612A>C c.1-3690A>C (n.1-3690A>C) c.6986A>C (p.Asp2329Ala) c.7532A>C (p.Asp2511Ala) c.7349A>C (p.Asp2450Ala) c.*42A>C (n.*42A>C) c.7070A>C (p.Asp2357Ala) c.6113A>C (p.Asp2038Ala) c.6104A>C (p.Asp2035Ala) | |
| 5 | g.37060888A>G | CA359518461 | NIPBL | c.7730A>G (p.Asp2577Gly) c.7583A>G (p.Asp2528Gly) c.263+1723A>G (n.263+1723A>G) n.1612A>G c.1-3690A>G (n.1-3690A>G) c.6986A>G (p.Asp2329Gly) c.7532A>G (p.Asp2511Gly) c.7349A>G (p.Asp2450Gly) c.*42A>G (n.*42A>G) c.7070A>G (p.Asp2357Gly) c.6113A>G (p.Asp2038Gly) c.6104A>G (p.Asp2035Gly) | gnomAD v4 |
| 5 | g.37060888A>T | CA359518465 | NIPBL | c.7730A>T (p.Asp2577Val) c.7583A>T (p.Asp2528Val) c.263+1723A>T (n.263+1723A>T) n.1612A>T c.1-3690A>T (n.1-3690A>T) c.6986A>T (p.Asp2329Val) c.7532A>T (p.Asp2511Val) c.7349A>T (p.Asp2450Val) c.*42A>T (n.*42A>T) c.7070A>T (p.Asp2357Val) c.6113A>T (p.Asp2038Val) c.6104A>T (p.Asp2035Val) |