| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37052454_37052458del | CA2695204433 | NIPBL | c.7151_7155del (p.Gln2384ArgfsTer4) n.1033_1037del c.1-12124_1-12120del (n.1-12124_1-12120del) c.6407_6411del (p.Gln2136ArgfsTer4) c.6953_6957del (p.Gln2318ArgfsTer4) c.6770_6774del (p.Gln2257ArgfsTer4) c.6491_6495del (p.Gln2164ArgfsTer4) c.5534_5538del (p.Gln1845ArgfsTer4) c.5525_5529del (p.Gln1842ArgfsTer4) | |
| 5 | g.37052453C>A | CA359511450 | NIPBL | c.7150C>A (p.Gln2384Lys) n.1032C>A c.1-12125C>A (n.1-12125C>A) c.6406C>A (p.Gln2136Lys) c.6952C>A (p.Gln2318Lys) c.6769C>A (p.Gln2257Lys) c.6490C>A (p.Gln2164Lys) c.5533C>A (p.Gln1845Lys) c.5524C>A (p.Gln1842Lys) | |
| 5 | g.37052453C= | CA1539572246 | NIPBL | c.7150C= (p.Gln2384=) n.1032C= c.1-12125C= (n.1-12125C=) c.6406C= (p.Gln2136=) c.6952C= (p.Gln2318=) c.6769C= (p.Gln2257=) c.6490C= (p.Gln2164=) c.5533C= (p.Gln1845=) c.5524C= (p.Gln1842=) | |
| 5 | g.37052453C>G | CA359511452 | NIPBL | c.7150C>G (p.Gln2384Glu) n.1032C>G c.1-12125C>G (n.1-12125C>G) c.6406C>G (p.Gln2136Glu) c.6952C>G (p.Gln2318Glu) c.6769C>G (p.Gln2257Glu) c.6490C>G (p.Gln2164Glu) c.5533C>G (p.Gln1845Glu) c.5524C>G (p.Gln1842Glu) | |
| 5 | g.37052453C>T | CA10654758 | NIPBL | c.7150C>T (p.Gln2384Ter) n.1032C>T c.1-12125C>T (n.1-12125C>T) c.6406C>T (p.Gln2136Ter) c.6952C>T (p.Gln2318Ter) c.6769C>T (p.Gln2257Ter) c.6490C>T (p.Gln2164Ter) c.5533C>T (p.Gln1845Ter) c.5524C>T (p.Gln1842Ter) | ClinVar dbSNP |
| 5 | g.37052454A>C | CA359511457 | NIPBL | c.7151A>C (p.Gln2384Pro) n.1033A>C c.1-12124A>C (n.1-12124A>C) c.6407A>C (p.Gln2136Pro) c.6953A>C (p.Gln2318Pro) c.6770A>C (p.Gln2257Pro) c.6491A>C (p.Gln2164Pro) c.5534A>C (p.Gln1845Pro) c.5525A>C (p.Gln1842Pro) | |
| 5 | g.37052454A>G | CA359511458 | NIPBL | c.7151A>G (p.Gln2384Arg) n.1033A>G c.1-12124A>G (n.1-12124A>G) c.6407A>G (p.Gln2136Arg) c.6953A>G (p.Gln2318Arg) c.6770A>G (p.Gln2257Arg) c.6491A>G (p.Gln2164Arg) c.5534A>G (p.Gln1845Arg) c.5525A>G (p.Gln1842Arg) | |
| 5 | g.37052454A>T | CA359511460 | NIPBL | c.7151A>T (p.Gln2384Leu) n.1033A>T c.1-12124A>T (n.1-12124A>T) c.6407A>T (p.Gln2136Leu) c.6953A>T (p.Gln2318Leu) c.6770A>T (p.Gln2257Leu) c.6491A>T (p.Gln2164Leu) c.5534A>T (p.Gln1845Leu) c.5525A>T (p.Gln1842Leu) | |
| 5 | g.37052455A= | CA1539572249 | NIPBL | c.7152A= (p.Gln2384=) n.1034A= c.1-12123A= (n.1-12123A=) c.6408A= (p.Gln2136=) c.6954A= (p.Gln2318=) c.6771A= (p.Gln2257=) c.6492A= (p.Gln2164=) c.5535A= (p.Gln1845=) c.5526A= (p.Gln1842=) | |
| 5 | g.37052455A>C | CA359511462 | NIPBL | c.7152A>C (p.Gln2384His) n.1034A>C c.1-12123A>C (n.1-12123A>C) c.6408A>C (p.Gln2136His) c.6954A>C (p.Gln2318His) c.6771A>C (p.Gln2257His) c.6492A>C (p.Gln2164His) c.5535A>C (p.Gln1845His) c.5526A>C (p.Gln1842His) | |
| 5 | g.37052455A>G | CA443911690 | NIPBL | c.7152A>G (p.Gln2384=) n.1034A>G c.1-12123A>G (n.1-12123A>G) c.6408A>G (p.Gln2136=) c.6954A>G (p.Gln2318=) c.6771A>G (p.Gln2257=) c.6492A>G (p.Gln2164=) c.5535A>G (p.Gln1845=) c.5526A>G (p.Gln1842=) | dbSNP gnomAD v2 |
| 5 | g.37052455A>T | CA359511463 | NIPBL | c.7152A>T (p.Gln2384His) n.1034A>T c.1-12123A>T (n.1-12123A>T) c.6408A>T (p.Gln2136His) c.6954A>T (p.Gln2318His) c.6771A>T (p.Gln2257His) c.6492A>T (p.Gln2164His) c.5535A>T (p.Gln1845His) c.5526A>T (p.Gln1842His) | |
| 5 | g.37052456G>A | CA359511465 | NIPBL | c.7153G>A (p.Asp2385Asn) n.1035G>A c.1-12122G>A (n.1-12122G>A) c.6409G>A (p.Asp2137Asn) c.6955G>A (p.Asp2319Asn) c.6772G>A (p.Asp2258Asn) c.6493G>A (p.Asp2165Asn) c.5536G>A (p.Asp1846Asn) c.5527G>A (p.Asp1843Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37052456G>C | CA359511468 | NIPBL | c.7153G>C (p.Asp2385His) n.1035G>C c.1-12122G>C (n.1-12122G>C) c.6409G>C (p.Asp2137His) c.6955G>C (p.Asp2319His) c.6772G>C (p.Asp2258His) c.6493G>C (p.Asp2165His) c.5536G>C (p.Asp1846His) c.5527G>C (p.Asp1843His) | |
| 5 | g.37052456G= | CA1539572252 | NIPBL | c.7153G= (p.Asp2385=) n.1035G= c.1-12122G= (n.1-12122G=) c.6409G= (p.Asp2137=) c.6955G= (p.Asp2319=) c.6772G= (p.Asp2258=) c.6493G= (p.Asp2165=) c.5536G= (p.Asp1846=) c.5527G= (p.Asp1843=) | |
| 5 | g.37052456G>T | CA359511470 | NIPBL | c.7153G>T (p.Asp2385Tyr) n.1035G>T c.1-12122G>T (n.1-12122G>T) c.6409G>T (p.Asp2137Tyr) c.6955G>T (p.Asp2319Tyr) c.6772G>T (p.Asp2258Tyr) c.6493G>T (p.Asp2165Tyr) c.5536G>T (p.Asp1846Tyr) c.5527G>T (p.Asp1843Tyr) | gnomAD v4 |
| 5 | g.37052457A>C | CA359511477 | NIPBL | c.7154A>C (p.Asp2385Ala) n.1036A>C c.1-12121A>C (n.1-12121A>C) c.6410A>C (p.Asp2137Ala) c.6956A>C (p.Asp2319Ala) c.6773A>C (p.Asp2258Ala) c.6494A>C (p.Asp2165Ala) c.5537A>C (p.Asp1846Ala) c.5528A>C (p.Asp1843Ala) | |
| 5 | g.37052457A>G | CA359511476 | NIPBL | c.7154A>G (p.Asp2385Gly) n.1036A>G c.1-12121A>G (n.1-12121A>G) c.6410A>G (p.Asp2137Gly) c.6956A>G (p.Asp2319Gly) c.6773A>G (p.Asp2258Gly) c.6494A>G (p.Asp2165Gly) c.5537A>G (p.Asp1846Gly) c.5528A>G (p.Asp1843Gly) | gnomAD v4 |
| 5 | g.37052457A>T | CA359511473 | NIPBL | c.7154A>T (p.Asp2385Val) n.1036A>T c.1-12121A>T (n.1-12121A>T) c.6410A>T (p.Asp2137Val) c.6956A>T (p.Asp2319Val) c.6773A>T (p.Asp2258Val) c.6494A>T (p.Asp2165Val) c.5537A>T (p.Asp1846Val) c.5528A>T (p.Asp1843Val) | |
| 5 | g.37052458C>A | CA359511479 | NIPBL | c.7155C>A (p.Asp2385Glu) n.1037C>A c.1-12120C>A (n.1-12120C>A) c.6411C>A (p.Asp2137Glu) c.6957C>A (p.Asp2319Glu) c.6774C>A (p.Asp2258Glu) c.6495C>A (p.Asp2165Glu) c.5538C>A (p.Asp1846Glu) c.5529C>A (p.Asp1843Glu) | |
| 5 | g.37052458C= | CA1539572257 | NIPBL | c.7155C= (p.Asp2385=) n.1037C= c.1-12120C= (n.1-12120C=) c.6411C= (p.Asp2137=) c.6957C= (p.Asp2319=) c.6774C= (p.Asp2258=) c.6495C= (p.Asp2165=) c.5538C= (p.Asp1846=) c.5529C= (p.Asp1843=) | |
| 5 | g.37052458C>G | CA359511480 | NIPBL | c.7155C>G (p.Asp2385Glu) n.1037C>G c.1-12120C>G (n.1-12120C>G) c.6411C>G (p.Asp2137Glu) c.6957C>G (p.Asp2319Glu) c.6774C>G (p.Asp2258Glu) c.6495C>G (p.Asp2165Glu) c.5538C>G (p.Asp1846Glu) c.5529C>G (p.Asp1843Glu) | |
| 5 | g.37052458C>T | CA3237148 | NIPBL | c.7155C>T (p.Asp2385=) n.1037C>T c.1-12120C>T (n.1-12120C>T) c.6411C>T (p.Asp2137=) c.6957C>T (p.Asp2319=) c.6774C>T (p.Asp2258=) c.6495C>T (p.Asp2165=) c.5538C>T (p.Asp1846=) c.5529C>T (p.Asp1843=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37052459G>A | CA359511485 | NIPBL | c.7156G>A (p.Glu2386Lys) n.1038G>A c.1-12119G>A (n.1-12119G>A) c.6412G>A (p.Glu2138Lys) c.6958G>A (p.Glu2320Lys) c.6775G>A (p.Glu2259Lys) c.6496G>A (p.Glu2166Lys) c.5539G>A (p.Glu1847Lys) c.5530G>A (p.Glu1844Lys) | gnomAD v4 COSMIC COSMIC |
| 5 | g.37052459G>C | CA359511487 | NIPBL | c.7156G>C (p.Glu2386Gln) n.1038G>C c.1-12119G>C (n.1-12119G>C) c.6412G>C (p.Glu2138Gln) c.6958G>C (p.Glu2320Gln) c.6775G>C (p.Glu2259Gln) c.6496G>C (p.Glu2166Gln) c.5539G>C (p.Glu1847Gln) c.5530G>C (p.Glu1844Gln) | |
| 5 | g.37052459G>T | CA359511488 | NIPBL | c.7156G>T (p.Glu2386Ter) n.1038G>T c.1-12119G>T (n.1-12119G>T) c.6412G>T (p.Glu2138Ter) c.6958G>T (p.Glu2320Ter) c.6775G>T (p.Glu2259Ter) c.6496G>T (p.Glu2166Ter) c.5539G>T (p.Glu1847Ter) c.5530G>T (p.Glu1844Ter) | |
| 5 | g.37052460A>C | CA359511491 | NIPBL | c.7157A>C (p.Glu2386Ala) n.1039A>C c.1-12118A>C (n.1-12118A>C) c.6413A>C (p.Glu2138Ala) c.6959A>C (p.Glu2320Ala) c.6776A>C (p.Glu2259Ala) c.6497A>C (p.Glu2166Ala) c.5540A>C (p.Glu1847Ala) c.5531A>C (p.Glu1844Ala) | |
| 5 | g.37052460A>G | CA359511492 | NIPBL | c.7157A>G (p.Glu2386Gly) n.1039A>G c.1-12118A>G (n.1-12118A>G) c.6413A>G (p.Glu2138Gly) c.6959A>G (p.Glu2320Gly) c.6776A>G (p.Glu2259Gly) c.6497A>G (p.Glu2166Gly) c.5540A>G (p.Glu1847Gly) c.5531A>G (p.Glu1844Gly) | |
| 5 | g.37052460A>T | CA359511495 | NIPBL | c.7157A>T (p.Glu2386Val) n.1039A>T c.1-12118A>T (n.1-12118A>T) c.6413A>T (p.Glu2138Val) c.6959A>T (p.Glu2320Val) c.6776A>T (p.Glu2259Val) c.6497A>T (p.Glu2166Val) c.5540A>T (p.Glu1847Val) c.5531A>T (p.Glu1844Val) | |
| 5 | g.37052461G>A | CA443911714 | NIPBL | c.7158G>A (p.Glu2386=) n.1040G>A c.1-12117G>A (n.1-12117G>A) c.6414G>A (p.Glu2138=) c.6960G>A (p.Glu2320=) c.6777G>A (p.Glu2259=) c.6498G>A (p.Glu2166=) c.5541G>A (p.Glu1847=) c.5532G>A (p.Glu1844=) | gnomAD v4 |
| 5 | g.37052461G>C | CA359511498 | NIPBL | c.7158G>C (p.Glu2386Asp) n.1040G>C c.1-12117G>C (n.1-12117G>C) c.6414G>C (p.Glu2138Asp) c.6960G>C (p.Glu2320Asp) c.6777G>C (p.Glu2259Asp) c.6498G>C (p.Glu2166Asp) c.5541G>C (p.Glu1847Asp) c.5532G>C (p.Glu1844Asp) | gnomAD v4 |
| 5 | g.37052461G>T | CA359511501 | NIPBL | c.7158G>T (p.Glu2386Asp) n.1040G>T c.1-12117G>T (n.1-12117G>T) c.6414G>T (p.Glu2138Asp) c.6960G>T (p.Glu2320Asp) c.6777G>T (p.Glu2259Asp) c.6498G>T (p.Glu2166Asp) c.5541G>T (p.Glu1847Asp) c.5532G>T (p.Glu1844Asp) | |
| 5 | g.37052462T>A | CA359511505 | NIPBL | c.7159T>A (p.Ser2387Thr) n.1041T>A c.1-12116T>A (n.1-12116T>A) c.6415T>A (p.Ser2139Thr) c.6961T>A (p.Ser2321Thr) c.6778T>A (p.Ser2260Thr) c.6499T>A (p.Ser2167Thr) c.5542T>A (p.Ser1848Thr) c.5533T>A (p.Ser1845Thr) | |
| 5 | g.37052462T>C | CA359511503 | NIPBL | c.7159T>C (p.Ser2387Pro) n.1041T>C c.1-12116T>C (n.1-12116T>C) c.6415T>C (p.Ser2139Pro) c.6961T>C (p.Ser2321Pro) c.6778T>C (p.Ser2260Pro) c.6499T>C (p.Ser2167Pro) c.5542T>C (p.Ser1848Pro) c.5533T>C (p.Ser1845Pro) | |
| 5 | g.37052462T>G | CA359511502 | NIPBL | c.7159T>G (p.Ser2387Ala) n.1041T>G c.1-12116T>G (n.1-12116T>G) c.6415T>G (p.Ser2139Ala) c.6961T>G (p.Ser2321Ala) c.6778T>G (p.Ser2260Ala) c.6499T>G (p.Ser2167Ala) c.5542T>G (p.Ser1848Ala) c.5533T>G (p.Ser1845Ala) | dbSNP |
| 5 | g.37052462T= | CA1539572263 | NIPBL | c.7159T= (p.Ser2387=) n.1041T= c.1-12116T= (n.1-12116T=) c.6415T= (p.Ser2139=) c.6961T= (p.Ser2321=) c.6778T= (p.Ser2260=) c.6499T= (p.Ser2167=) c.5542T= (p.Ser1848=) c.5533T= (p.Ser1845=) | |
| 5 | g.37052463C>A | CA359511507 | NIPBL | c.7160C>A (p.Ser2387Tyr) n.1042C>A c.1-12115C>A (n.1-12115C>A) c.6416C>A (p.Ser2139Tyr) c.6962C>A (p.Ser2321Tyr) c.6779C>A (p.Ser2260Tyr) c.6500C>A (p.Ser2167Tyr) c.5543C>A (p.Ser1848Tyr) c.5534C>A (p.Ser1845Tyr) | |
| 5 | g.37052463C>G | CA359511508 | NIPBL | c.7160C>G (p.Ser2387Cys) n.1042C>G c.1-12115C>G (n.1-12115C>G) c.6416C>G (p.Ser2139Cys) c.6962C>G (p.Ser2321Cys) c.6779C>G (p.Ser2260Cys) c.6500C>G (p.Ser2167Cys) c.5543C>G (p.Ser1848Cys) c.5534C>G (p.Ser1845Cys) | |
| 5 | g.37052463C>T | CA359511510 | NIPBL | c.7160C>T (p.Ser2387Phe) n.1042C>T c.1-12115C>T (n.1-12115C>T) c.6416C>T (p.Ser2139Phe) c.6962C>T (p.Ser2321Phe) c.6779C>T (p.Ser2260Phe) c.6500C>T (p.Ser2167Phe) c.5543C>T (p.Ser1848Phe) c.5534C>T (p.Ser1845Phe) | |
| 5 | g.37052464C>A | CA443911729 | NIPBL | c.7161C>A (p.Ser2387=) n.1043C>A c.1-12114C>A (n.1-12114C>A) c.6417C>A (p.Ser2139=) c.6963C>A (p.Ser2321=) c.6780C>A (p.Ser2260=) c.6501C>A (p.Ser2167=) c.5544C>A (p.Ser1848=) c.5535C>A (p.Ser1845=) | |
| 5 | g.37052464C= | CA1539572268 | NIPBL | c.7161C= (p.Ser2387=) n.1043C= c.1-12114C= (n.1-12114C=) c.6417C= (p.Ser2139=) c.6963C= (p.Ser2321=) c.6780C= (p.Ser2260=) c.6501C= (p.Ser2167=) c.5544C= (p.Ser1848=) c.5535C= (p.Ser1845=) | |
| 5 | g.37052464C>G | CA443911731 | NIPBL | c.7161C>G (p.Ser2387=) n.1043C>G c.1-12114C>G (n.1-12114C>G) c.6417C>G (p.Ser2139=) c.6963C>G (p.Ser2321=) c.6780C>G (p.Ser2260=) c.6501C>G (p.Ser2167=) c.5544C>G (p.Ser1848=) c.5535C>G (p.Ser1845=) | gnomAD v4 |
| 5 | g.37052464C>T | CA443911733 | NIPBL | c.7161C>T (p.Ser2387=) n.1043C>T c.1-12114C>T (n.1-12114C>T) c.6417C>T (p.Ser2139=) c.6963C>T (p.Ser2321=) c.6780C>T (p.Ser2260=) c.6501C>T (p.Ser2167=) c.5544C>T (p.Ser1848=) c.5535C>T (p.Ser1845=) | dbSNP |
| 5 | g.37052465T>A | CA359511511 | NIPBL | c.7162T>A (p.Ser2388Thr) n.1044T>A c.1-12113T>A (n.1-12113T>A) c.6418T>A (p.Ser2140Thr) c.6964T>A (p.Ser2322Thr) c.6781T>A (p.Ser2261Thr) c.6502T>A (p.Ser2168Thr) c.5545T>A (p.Ser1849Thr) c.5536T>A (p.Ser1846Thr) | |
| 5 | g.37052465T>C | CA359511514 | NIPBL | c.7162T>C (p.Ser2388Pro) n.1044T>C c.1-12113T>C (n.1-12113T>C) c.6418T>C (p.Ser2140Pro) c.6964T>C (p.Ser2322Pro) c.6781T>C (p.Ser2261Pro) c.6502T>C (p.Ser2168Pro) c.5545T>C (p.Ser1849Pro) c.5536T>C (p.Ser1846Pro) | |
| 5 | g.37052465T>G | CA359511515 | NIPBL | c.7162T>G (p.Ser2388Ala) n.1044T>G c.1-12113T>G (n.1-12113T>G) c.6418T>G (p.Ser2140Ala) c.6964T>G (p.Ser2322Ala) c.6781T>G (p.Ser2261Ala) c.6502T>G (p.Ser2168Ala) c.5545T>G (p.Ser1849Ala) c.5536T>G (p.Ser1846Ala) | |
| 5 | g.37052466C>A | CA359511520 | NIPBL | c.7163C>A (p.Ser2388Tyr) n.1045C>A c.1-12112C>A (n.1-12112C>A) c.6419C>A (p.Ser2140Tyr) c.6965C>A (p.Ser2322Tyr) c.6782C>A (p.Ser2261Tyr) c.6503C>A (p.Ser2168Tyr) c.5546C>A (p.Ser1849Tyr) c.5537C>A (p.Ser1846Tyr) | |
| 5 | g.37052466C= | CA1539572274 | NIPBL | c.7163C= (p.Ser2388=) n.1045C= c.1-12112C= (n.1-12112C=) c.6419C= (p.Ser2140=) c.6965C= (p.Ser2322=) c.6782C= (p.Ser2261=) c.6503C= (p.Ser2168=) c.5546C= (p.Ser1849=) c.5537C= (p.Ser1846=) | |
| 5 | g.37052466C>G | CA359511517 | NIPBL | c.7163C>G (p.Ser2388Cys) n.1045C>G c.1-12112C>G (n.1-12112C>G) c.6419C>G (p.Ser2140Cys) c.6965C>G (p.Ser2322Cys) c.6782C>G (p.Ser2261Cys) c.6503C>G (p.Ser2168Cys) c.5546C>G (p.Ser1849Cys) c.5537C>G (p.Ser1846Cys) | dbSNP gnomAD v4 |
| 5 | g.37052466C>T | CA359511518 | NIPBL | c.7163C>T (p.Ser2388Phe) n.1045C>T c.1-12112C>T (n.1-12112C>T) c.6419C>T (p.Ser2140Phe) c.6965C>T (p.Ser2322Phe) c.6782C>T (p.Ser2261Phe) c.6503C>T (p.Ser2168Phe) c.5546C>T (p.Ser1849Phe) c.5537C>T (p.Ser1846Phe) |