| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.36995625G>A | CA359513276 | NIPBL | c.3125G>A (p.Ser1042Asn) n.476G>A n.2745G>A c.1-68953G>A (n.1-68953G>A) c.2381G>A (p.Ser794Asn) c.3122-5192G>A (n.3122-5192G>A) c.2465G>A (p.Ser822Asn) c.1508G>A (p.Ser503Asn) c.1499G>A (p.Ser500Asn) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 5 | g.36995625G>C | CA359513273 | NIPBL | c.3125G>C (p.Ser1042Thr) n.476G>C n.2745G>C c.1-68953G>C (n.1-68953G>C) c.2381G>C (p.Ser794Thr) c.3122-5192G>C (n.3122-5192G>C) c.2465G>C (p.Ser822Thr) c.1508G>C (p.Ser503Thr) c.1499G>C (p.Ser500Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.36995625G= | CA1539600000 | NIPBL | c.3125G= (p.Ser1042=) n.476G= n.2745G= c.1-68953G= (n.1-68953G=) c.2381G= (p.Ser794=) c.3122-5192G= (n.3122-5192G=) c.2465G= (p.Ser822=) c.1508G= (p.Ser503=) c.1499G= (p.Ser500=) | |
| 5 | g.36995625G>T | CA359513271 | NIPBL | c.3125G>T (p.Ser1042Ile) n.476G>T n.2745G>T c.1-68953G>T (n.1-68953G>T) c.2381G>T (p.Ser794Ile) c.3122-5192G>T (n.3122-5192G>T) c.2465G>T (p.Ser822Ile) c.1508G>T (p.Ser503Ile) c.1499G>T (p.Ser500Ile) | |
| 5 | g.36995626T>A | CA359513279 | NIPBL | c.3126T>A (p.Ser1042Arg) n.477T>A n.2746T>A c.1-68952T>A (n.1-68952T>A) c.2382T>A (p.Ser794Arg) c.3122-5191T>A (n.3122-5191T>A) c.2466T>A (p.Ser822Arg) c.1509T>A (p.Ser503Arg) c.1500T>A (p.Ser500Arg) | |
| 5 | g.36995626T>C | CA3236291 | NIPBL | c.3126T>C (p.Ser1042=) n.477T>C n.2746T>C c.1-68952T>C (n.1-68952T>C) c.2382T>C (p.Ser794=) c.3122-5191T>C (n.3122-5191T>C) c.2466T>C (p.Ser822=) c.1509T>C (p.Ser503=) c.1500T>C (p.Ser500=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.36995626T>G | CA359513281 | NIPBL | c.3126T>G (p.Ser1042Arg) n.477T>G n.2746T>G c.1-68952T>G (n.1-68952T>G) c.2382T>G (p.Ser794Arg) c.3122-5191T>G (n.3122-5191T>G) c.2466T>G (p.Ser822Arg) c.1509T>G (p.Ser503Arg) c.1500T>G (p.Ser500Arg) | |
| 5 | g.36995626T= | CA1539600011 | NIPBL | c.3126T= (p.Ser1042=) n.477T= n.2746T= c.1-68952T= (n.1-68952T=) c.2382T= (p.Ser794=) c.3122-5191T= (n.3122-5191T=) c.2466T= (p.Ser822=) c.1509T= (p.Ser503=) c.1500T= (p.Ser500=) | |
| 5 | g.36995627A= | CA1539600020 | NIPBL | c.3127A= (p.Ile1043=) n.478A= n.2747A= c.1-68951A= (n.1-68951A=) c.2383A= (p.Ile795=) c.3122-5190A= (n.3122-5190A=) c.2467A= (p.Ile823=) c.1510A= (p.Ile504=) c.1501A= (p.Ile501=) | |
| 5 | g.36995627A>C | CA359513286 | NIPBL | c.3127A>C (p.Ile1043Leu) n.478A>C n.2747A>C c.1-68951A>C (n.1-68951A>C) c.2383A>C (p.Ile795Leu) c.3122-5190A>C (n.3122-5190A>C) c.2467A>C (p.Ile823Leu) c.1510A>C (p.Ile504Leu) c.1501A>C (p.Ile501Leu) | |
| 5 | g.36995627A>G | CA3236292 | NIPBL | c.3127A>G (p.Ile1043Val) n.478A>G n.2747A>G c.1-68951A>G (n.1-68951A>G) c.2383A>G (p.Ile795Val) c.3122-5190A>G (n.3122-5190A>G) c.2467A>G (p.Ile823Val) c.1510A>G (p.Ile504Val) c.1501A>G (p.Ile501Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.36995627A>T | CA359513290 | NIPBL | c.3127A>T (p.Ile1043Leu) n.478A>T n.2747A>T c.1-68951A>T (n.1-68951A>T) c.2383A>T (p.Ile795Leu) c.3122-5190A>T (n.3122-5190A>T) c.2467A>T (p.Ile823Leu) c.1510A>T (p.Ile504Leu) c.1501A>T (p.Ile501Leu) | |
| 5 | g.36995628T>A | CA359513292 | NIPBL | c.3128T>A (p.Ile1043Lys) n.479T>A n.2748T>A c.1-68950T>A (n.1-68950T>A) c.2384T>A (p.Ile795Lys) c.3122-5189T>A (n.3122-5189T>A) c.2468T>A (p.Ile823Lys) c.1511T>A (p.Ile504Lys) c.1502T>A (p.Ile501Lys) | |
| 5 | g.36995628T>C | CA359513294 | NIPBL | c.3128T>C (p.Ile1043Thr) n.479T>C n.2748T>C c.1-68950T>C (n.1-68950T>C) c.2384T>C (p.Ile795Thr) c.3122-5189T>C (n.3122-5189T>C) c.2468T>C (p.Ile823Thr) c.1511T>C (p.Ile504Thr) c.1502T>C (p.Ile501Thr) | |
| 5 | g.36995628T>G | CA359513296 | NIPBL | c.3128T>G (p.Ile1043Arg) n.479T>G n.2748T>G c.1-68950T>G (n.1-68950T>G) c.2384T>G (p.Ile795Arg) c.3122-5189T>G (n.3122-5189T>G) c.2468T>G (p.Ile823Arg) c.1511T>G (p.Ile504Arg) c.1502T>G (p.Ile501Arg) | |
| 5 | g.36995629A>C | CA443903876 | NIPBL | c.3129A>C (p.Ile1043=) n.480A>C n.2749A>C c.1-68949A>C (n.1-68949A>C) c.2385A>C (p.Ile795=) c.3122-5188A>C (n.3122-5188A>C) c.2469A>C (p.Ile823=) c.1512A>C (p.Ile504=) c.1503A>C (p.Ile501=) | |
| 5 | g.36995629A>G | CA359513298 | NIPBL | c.3129A>G (p.Ile1043Met) n.480A>G n.2749A>G c.1-68949A>G (n.1-68949A>G) c.2385A>G (p.Ile795Met) c.3122-5188A>G (n.3122-5188A>G) c.2469A>G (p.Ile823Met) c.1512A>G (p.Ile504Met) c.1503A>G (p.Ile501Met) | |
| 5 | g.36995629A>T | CA443903877 | NIPBL | c.3129A>T (p.Ile1043=) n.480A>T n.2749A>T c.1-68949A>T (n.1-68949A>T) c.2385A>T (p.Ile795=) c.3122-5188A>T (n.3122-5188A>T) c.2469A>T (p.Ile823=) c.1512A>T (p.Ile504=) c.1503A>T (p.Ile501=) | |
| 5 | g.36995630_36995631del | CA2708536896 | NIPBL | c.3130_3131del (p.Asp1044SerfsTer10) n.481_482del n.2750_2751del c.1-68948_1-68947del (n.1-68948_1-68947del) c.2386_2387del (p.Asp796SerfsTer10) c.3122-5187_3122-5186del (n.3122-5187_3122-5186del) c.2470_2471del (p.Asp824SerfsTer10) c.1513_1514del (p.Asp505SerfsTer10) c.1504_1505del (p.Asp502SerfsTer10) | dbSNP |
| 5 | g.36995630G>A | CA359513302 | NIPBL | c.3130G>A (p.Asp1044Asn) n.481G>A n.2750G>A c.1-68948G>A (n.1-68948G>A) c.2386G>A (p.Asp796Asn) c.3122-5187G>A (n.3122-5187G>A) c.2470G>A (p.Asp824Asn) c.1513G>A (p.Asp505Asn) c.1504G>A (p.Asp502Asn) | |
| 5 | g.36995630G>C | CA359513304 | NIPBL | c.3130G>C (p.Asp1044His) n.481G>C n.2750G>C c.1-68948G>C (n.1-68948G>C) c.2386G>C (p.Asp796His) c.3122-5187G>C (n.3122-5187G>C) c.2470G>C (p.Asp824His) c.1513G>C (p.Asp505His) c.1504G>C (p.Asp502His) | |
| 5 | g.36995630G>T | CA359513306 | NIPBL | c.3130G>T (p.Asp1044Tyr) n.481G>T n.2750G>T c.1-68948G>T (n.1-68948G>T) c.2386G>T (p.Asp796Tyr) c.3122-5187G>T (n.3122-5187G>T) c.2470G>T (p.Asp824Tyr) c.1513G>T (p.Asp505Tyr) c.1504G>T (p.Asp502Tyr) | COSMIC COSMIC |
| 5 | g.36995631A= | CA1539600026 | NIPBL | c.3131A= (p.Asp1044=) n.482A= n.2751A= c.1-68947A= (n.1-68947A=) c.2387A= (p.Asp796=) c.3122-5186A= (n.3122-5186A=) c.2471A= (p.Asp824=) c.1514A= (p.Asp505=) c.1505A= (p.Asp502=) | |
| 5 | g.36995631A>C | CA117052721 | NIPBL | c.3131A>C (p.Asp1044Ala) n.482A>C n.2751A>C c.1-68947A>C (n.1-68947A>C) c.2387A>C (p.Asp796Ala) c.3122-5186A>C (n.3122-5186A>C) c.2471A>C (p.Asp824Ala) c.1514A>C (p.Asp505Ala) c.1505A>C (p.Asp502Ala) | dbSNP gnomAD v4 |
| 5 | g.36995631A>G | CA359513311 | NIPBL | c.3131A>G (p.Asp1044Gly) n.482A>G n.2751A>G c.1-68947A>G (n.1-68947A>G) c.2387A>G (p.Asp796Gly) c.3122-5186A>G (n.3122-5186A>G) c.2471A>G (p.Asp824Gly) c.1514A>G (p.Asp505Gly) c.1505A>G (p.Asp502Gly) | |
| 5 | g.36995631A>T | CA359513313 | NIPBL | c.3131A>T (p.Asp1044Val) n.482A>T n.2751A>T c.1-68947A>T (n.1-68947A>T) c.2387A>T (p.Asp796Val) c.3122-5186A>T (n.3122-5186A>T) c.2471A>T (p.Asp824Val) c.1514A>T (p.Asp505Val) c.1505A>T (p.Asp502Val) | |
| 5 | g.36995632T>A | CA359513317 | NIPBL | c.3132T>A (p.Asp1044Glu) n.483T>A n.2752T>A c.1-68946T>A (n.1-68946T>A) c.2388T>A (p.Asp796Glu) c.3122-5185T>A (n.3122-5185T>A) c.2472T>A (p.Asp824Glu) c.1515T>A (p.Asp505Glu) c.1506T>A (p.Asp502Glu) | |
| 5 | g.36995632T>C | CA443903878 | NIPBL | c.3132T>C (p.Asp1044=) n.483T>C n.2752T>C c.1-68946T>C (n.1-68946T>C) c.2388T>C (p.Asp796=) c.3122-5185T>C (n.3122-5185T>C) c.2472T>C (p.Asp824=) c.1515T>C (p.Asp505=) c.1506T>C (p.Asp502=) | |
| 5 | g.36995632T>G | CA359513319 | NIPBL | c.3132T>G (p.Asp1044Glu) n.483T>G n.2752T>G c.1-68946T>G (n.1-68946T>G) c.2388T>G (p.Asp796Glu) c.3122-5185T>G (n.3122-5185T>G) c.2472T>G (p.Asp824Glu) c.1515T>G (p.Asp505Glu) c.1506T>G (p.Asp502Glu) | |
| 5 | g.36995633C>A | CA359513322 | NIPBL | c.3133C>A (p.Gln1045Lys) n.484C>A n.2753C>A c.1-68945C>A (n.1-68945C>A) c.2389C>A (p.Gln797Lys) c.3122-5184C>A (n.3122-5184C>A) c.2473C>A (p.Gln825Lys) c.1516C>A (p.Gln506Lys) c.1507C>A (p.Gln503Lys) | gnomAD v4 |
| 5 | g.36995633C>G | CA359513324 | NIPBL | c.3133C>G (p.Gln1045Glu) n.484C>G n.2753C>G c.1-68945C>G (n.1-68945C>G) c.2389C>G (p.Gln797Glu) c.3122-5184C>G (n.3122-5184C>G) c.2473C>G (p.Gln825Glu) c.1516C>G (p.Gln506Glu) c.1507C>G (p.Gln503Glu) | COSMIC COSMIC |
| 5 | g.36995633C>T | CA359513326 | NIPBL | c.3133C>T (p.Gln1045Ter) n.484C>T n.2753C>T c.1-68945C>T (n.1-68945C>T) c.2389C>T (p.Gln797Ter) c.3122-5184C>T (n.3122-5184C>T) c.2473C>T (p.Gln825Ter) c.1516C>T (p.Gln506Ter) c.1507C>T (p.Gln503Ter) | COSMIC COSMIC |
| 5 | g.36995634A>C | CA359513329 | NIPBL | c.3134A>C (p.Gln1045Pro) n.485A>C n.2754A>C c.1-68944A>C (n.1-68944A>C) c.2390A>C (p.Gln797Pro) c.3122-5183A>C (n.3122-5183A>C) c.2474A>C (p.Gln825Pro) c.1517A>C (p.Gln506Pro) c.1508A>C (p.Gln503Pro) | |
| 5 | g.36995634A>G | CA359513331 | NIPBL | c.3134A>G (p.Gln1045Arg) n.485A>G n.2754A>G c.1-68944A>G (n.1-68944A>G) c.2390A>G (p.Gln797Arg) c.3122-5183A>G (n.3122-5183A>G) c.2474A>G (p.Gln825Arg) c.1517A>G (p.Gln506Arg) c.1508A>G (p.Gln503Arg) | |
| 5 | g.36995634A>T | CA359513333 | NIPBL | c.3134A>T (p.Gln1045Leu) n.485A>T n.2754A>T c.1-68944A>T (n.1-68944A>T) c.2390A>T (p.Gln797Leu) c.3122-5183A>T (n.3122-5183A>T) c.2474A>T (p.Gln825Leu) c.1517A>T (p.Gln506Leu) c.1508A>T (p.Gln503Leu) | |
| 5 | g.36995635A>C | CA359513336 | NIPBL | c.3135A>C (p.Gln1045His) n.486A>C n.2755A>C c.1-68943A>C (n.1-68943A>C) c.2391A>C (p.Gln797His) c.3122-5182A>C (n.3122-5182A>C) c.2475A>C (p.Gln825His) c.1518A>C (p.Gln506His) c.1509A>C (p.Gln503His) | gnomAD v4 |
| 5 | g.36995635A>G | CA443903879 | NIPBL | c.3135A>G (p.Gln1045=) n.486A>G n.2755A>G c.1-68943A>G (n.1-68943A>G) c.2391A>G (p.Gln797=) c.3122-5182A>G (n.3122-5182A>G) c.2475A>G (p.Gln825=) c.1518A>G (p.Gln506=) c.1509A>G (p.Gln503=) | |
| 5 | g.36995635A>T | CA359513338 | NIPBL | c.3135A>T (p.Gln1045His) n.486A>T n.2755A>T c.1-68943A>T (n.1-68943A>T) c.2391A>T (p.Gln797His) c.3122-5182A>T (n.3122-5182A>T) c.2475A>T (p.Gln825His) c.1518A>T (p.Gln506His) c.1509A>T (p.Gln503His) | |
| 5 | g.36995636T>A | CA359513341 | NIPBL | c.3136T>A (p.Ser1046Thr) n.487T>A n.2756T>A c.1-68942T>A (n.1-68942T>A) c.2392T>A (p.Ser798Thr) c.3122-5181T>A (n.3122-5181T>A) c.2476T>A (p.Ser826Thr) c.1519T>A (p.Ser507Thr) c.1510T>A (p.Ser504Thr) | |
| 5 | g.36995636T>C | CA359513343 | NIPBL | c.3136T>C (p.Ser1046Pro) n.487T>C n.2756T>C c.1-68942T>C (n.1-68942T>C) c.2392T>C (p.Ser798Pro) c.3122-5181T>C (n.3122-5181T>C) c.2476T>C (p.Ser826Pro) c.1519T>C (p.Ser507Pro) c.1510T>C (p.Ser504Pro) | |
| 5 | g.36995636T>G | CA359513345 | NIPBL | c.3136T>G (p.Ser1046Ala) n.487T>G n.2756T>G c.1-68942T>G (n.1-68942T>G) c.2392T>G (p.Ser798Ala) c.3122-5181T>G (n.3122-5181T>G) c.2476T>G (p.Ser826Ala) c.1519T>G (p.Ser507Ala) c.1510T>G (p.Ser504Ala) | |
| 5 | g.36995637C>A | CA359513354 | NIPBL | c.3137C>A (p.Ser1046Ter) n.488C>A n.2757C>A c.1-68941C>A (n.1-68941C>A) c.2393C>A (p.Ser798Ter) c.3122-5180C>A (n.3122-5180C>A) c.2477C>A (p.Ser826Ter) c.1520C>A (p.Ser507Ter) c.1511C>A (p.Ser504Ter) | ClinVar dbSNP gnomAD v4 |
| 5 | g.36995637C= | CA1539600037 | NIPBL | c.3137C= (p.Ser1046=) n.488C= n.2757C= c.1-68941C= (n.1-68941C=) c.2393C= (p.Ser798=) c.3122-5180C= (n.3122-5180C=) c.2477C= (p.Ser826=) c.1520C= (p.Ser507=) c.1511C= (p.Ser504=) | |
| 5 | g.36995637C>G | CA359513352 | NIPBL | c.3137C>G (p.Ser1046Ter) n.488C>G n.2757C>G c.1-68941C>G (n.1-68941C>G) c.2393C>G (p.Ser798Ter) c.3122-5180C>G (n.3122-5180C>G) c.2477C>G (p.Ser826Ter) c.1520C>G (p.Ser507Ter) c.1511C>G (p.Ser504Ter) | COSMIC COSMIC |
| 5 | g.36995637C>T | CA359513349 | NIPBL | c.3137C>T (p.Ser1046Leu) n.488C>T n.2757C>T c.1-68941C>T (n.1-68941C>T) c.2393C>T (p.Ser798Leu) c.3122-5180C>T (n.3122-5180C>T) c.2477C>T (p.Ser826Leu) c.1520C>T (p.Ser507Leu) c.1511C>T (p.Ser504Leu) | |
| 5 | g.36995638A>C | CA443903880 | NIPBL | c.3138A>C (p.Ser1046=) n.489A>C n.2758A>C c.1-68940A>C (n.1-68940A>C) c.2394A>C (p.Ser798=) c.3122-5179A>C (n.3122-5179A>C) c.2478A>C (p.Ser826=) c.1521A>C (p.Ser507=) c.1512A>C (p.Ser504=) | |
| 5 | g.36995638A>G | CA443903881 | NIPBL | c.3138A>G (p.Ser1046=) n.489A>G n.2758A>G c.1-68940A>G (n.1-68940A>G) c.2394A>G (p.Ser798=) c.3122-5179A>G (n.3122-5179A>G) c.2478A>G (p.Ser826=) c.1521A>G (p.Ser507=) c.1512A>G (p.Ser504=) | |
| 5 | g.36995638A>T | CA443903882 | NIPBL | c.3138A>T (p.Ser1046=) n.489A>T n.2758A>T c.1-68940A>T (n.1-68940A>T) c.2394A>T (p.Ser798=) c.3122-5179A>T (n.3122-5179A>T) c.2478A>T (p.Ser826=) c.1521A>T (p.Ser507=) c.1512A>T (p.Ser504=) | |
| 5 | g.36995639G>A | CA359513356 | NIPBL | c.3139G>A (p.Val1047Met) n.490G>A n.2759G>A c.1-68939G>A (n.1-68939G>A) c.2395G>A (p.Val799Met) c.3122-5178G>A (n.3122-5178G>A) c.2479G>A (p.Val827Met) c.1522G>A (p.Val508Met) c.1513G>A (p.Val505Met) | |
| 5 | g.36995639G>C | CA359513359 | NIPBL | c.3139G>C (p.Val1047Leu) n.490G>C n.2759G>C c.1-68939G>C (n.1-68939G>C) c.2395G>C (p.Val799Leu) c.3122-5178G>C (n.3122-5178G>C) c.2479G>C (p.Val827Leu) c.1522G>C (p.Val508Leu) c.1513G>C (p.Val505Leu) |