| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 5 | g.36995639G= | CA1539600051 | NIPBL | c.3139G= (p.Val1047=) n.490G= n.2759G= c.1-68939G= (n.1-68939G=) c.2395G= (p.Val799=) c.3122-5178G= (n.3122-5178G=) c.2479G= (p.Val827=) c.1522G= (p.Val508=) c.1513G= (p.Val505=) | |
| 5 | g.36995639G>T | CA16604903 | NIPBL | c.3139G>T (p.Val1047Leu) n.490G>T n.2759G>T c.1-68939G>T (n.1-68939G>T) c.2395G>T (p.Val799Leu) c.3122-5178G>T (n.3122-5178G>T) c.2479G>T (p.Val827Leu) c.1522G>T (p.Val508Leu) c.1513G>T (p.Val505Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.36995640T>A | CA359513364 | NIPBL | c.3140T>A (p.Val1047Glu) n.491T>A n.2760T>A c.1-68938T>A (n.1-68938T>A) c.2396T>A (p.Val799Glu) c.3122-5177T>A (n.3122-5177T>A) c.2480T>A (p.Val827Glu) c.1523T>A (p.Val508Glu) c.1514T>A (p.Val505Glu) | |
| 5 | g.36995640T>C | CA359513366 | NIPBL | c.3140T>C (p.Val1047Ala) n.491T>C n.2760T>C c.1-68938T>C (n.1-68938T>C) c.2396T>C (p.Val799Ala) c.3122-5177T>C (n.3122-5177T>C) c.2480T>C (p.Val827Ala) c.1523T>C (p.Val508Ala) c.1514T>C (p.Val505Ala) | |
| 5 | g.36995640T>G | CA359513369 | NIPBL | c.3140T>G (p.Val1047Gly) n.491T>G n.2760T>G c.1-68938T>G (n.1-68938T>G) c.2396T>G (p.Val799Gly) c.3122-5177T>G (n.3122-5177T>G) c.2480T>G (p.Val827Gly) c.1523T>G (p.Val508Gly) c.1514T>G (p.Val505Gly) | |
| 5 | g.36995641G>A | CA3236294 | NIPBL | c.3141G>A (p.Val1047=) n.492G>A n.2761G>A c.1-68937G>A (n.1-68937G>A) c.2397G>A (p.Val799=) c.3122-5176G>A (n.3122-5176G>A) c.2481G>A (p.Val827=) c.1524G>A (p.Val508=) c.1515G>A (p.Val505=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.36995641G>C | CA443903883 | NIPBL | c.3141G>C (p.Val1047=) n.492G>C n.2761G>C c.1-68937G>C (n.1-68937G>C) c.2397G>C (p.Val799=) c.3122-5176G>C (n.3122-5176G>C) c.2481G>C (p.Val827=) c.1524G>C (p.Val508=) c.1515G>C (p.Val505=) | |
| 5 | g.36995641G= | CA1539592586 | NIPBL | c.3141G= (p.Val1047=) n.492G= n.2761G= c.1-68937G= (n.1-68937G=) c.2397G= (p.Val799=) c.3122-5176G= (n.3122-5176G=) c.2481G= (p.Val827=) c.1524G= (p.Val508=) c.1515G= (p.Val505=) | |
| 5 | g.36995641G>T | CA3236293 | NIPBL | c.3141G>T (p.Val1047=) n.492G>T n.2761G>T c.1-68937G>T (n.1-68937G>T) c.2397G>T (p.Val799=) c.3122-5176G>T (n.3122-5176G>T) c.2481G>T (p.Val827=) c.1524G>T (p.Val508=) c.1515G>T (p.Val505=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.36995642T>A | CA359513374 | NIPBL | c.3142T>A (p.Leu1048Ile) n.493T>A n.2762T>A c.1-68936T>A (n.1-68936T>A) c.2398T>A (p.Leu800Ile) c.3122-5175T>A (n.3122-5175T>A) c.2482T>A (p.Leu828Ile) c.1525T>A (p.Leu509Ile) c.1516T>A (p.Leu506Ile) | |
| 5 | g.36995642T>C | CA443903884 | NIPBL | c.3142T>C (p.Leu1048=) n.493T>C n.2762T>C c.1-68936T>C (n.1-68936T>C) c.2398T>C (p.Leu800=) c.3122-5175T>C (n.3122-5175T>C) c.2482T>C (p.Leu828=) c.1525T>C (p.Leu509=) c.1516T>C (p.Leu506=) | |
| 5 | g.36995642T>G | CA359513376 | NIPBL | c.3142T>G (p.Leu1048Val) n.493T>G n.2762T>G c.1-68936T>G (n.1-68936T>G) c.2398T>G (p.Leu800Val) c.3122-5175T>G (n.3122-5175T>G) c.2482T>G (p.Leu828Val) c.1525T>G (p.Leu509Val) c.1516T>G (p.Leu506Val) | |
| 5 | g.36995643T>A | CA359513378 | NIPBL | c.3143T>A (p.Leu1048Ter) n.494T>A n.2763T>A c.1-68935T>A (n.1-68935T>A) c.2399T>A (p.Leu800Ter) c.3122-5174T>A (n.3122-5174T>A) c.2483T>A (p.Leu828Ter) c.1526T>A (p.Leu509Ter) c.1517T>A (p.Leu506Ter) | |
| 5 | g.36995643T>C | CA359513380 | NIPBL | c.3143T>C (p.Leu1048Ser) n.494T>C n.2763T>C c.1-68935T>C (n.1-68935T>C) c.2399T>C (p.Leu800Ser) c.3122-5174T>C (n.3122-5174T>C) c.2483T>C (p.Leu828Ser) c.1526T>C (p.Leu509Ser) c.1517T>C (p.Leu506Ser) | |
| 5 | g.36995643T>G | CA359513382 | NIPBL | c.3143T>G (p.Leu1048Ter) n.494T>G n.2763T>G c.1-68935T>G (n.1-68935T>G) c.2399T>G (p.Leu800Ter) c.3122-5174T>G (n.3122-5174T>G) c.2483T>G (p.Leu828Ter) c.1526T>G (p.Leu509Ter) c.1517T>G (p.Leu506Ter) | |
| 5 | g.36995643_36995644insTG | CA2549053362 | NIPBL | c.3143_3144insTG (p.Leu1048PhefsTer23) n.494_495insTG n.2763_2764insTG c.1-68935_1-68934insTG (n.1-68935_1-68934insTG) c.2399_2400insTG (p.Leu800PhefsTer23) c.3122-5174_3122-5173insTG (n.3122-5174_3122-5173insTG) c.2483_2484insTG (p.Leu828PhefsTer23) c.1526_1527insTG (p.Leu509PhefsTer23) c.1517_1518insTG (p.Leu506PhefsTer23) | |
| 5 | g.36995644A>C | CA359513387 | NIPBL | c.3144A>C (p.Leu1048Phe) n.495A>C n.2764A>C c.1-68934A>C (n.1-68934A>C) c.2400A>C (p.Leu800Phe) c.3122-5173A>C (n.3122-5173A>C) c.2484A>C (p.Leu828Phe) c.1527A>C (p.Leu509Phe) c.1518A>C (p.Leu506Phe) | |
| 5 | g.36995644A>G | CA443903885 | NIPBL | c.3144A>G (p.Leu1048=) n.495A>G n.2764A>G c.1-68934A>G (n.1-68934A>G) c.2400A>G (p.Leu800=) c.3122-5173A>G (n.3122-5173A>G) c.2484A>G (p.Leu828=) c.1527A>G (p.Leu509=) c.1518A>G (p.Leu506=) | gnomAD v4 |