| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37000470_37000471del | CA2580613547 | NIPBL | c.3402_3403del (p.His1135Ter) n.753_754del c.1-64108_1-64107del (n.1-64108_1-64107del) c.2658_2659del (p.His887Ter) c.3305-347_3305-346del (n.3305-347_3305-346del) c.3122-347_3122-346del (n.3122-347_3122-346del) c.2742_2743del (p.His915Ter) c.1785_1786del (p.His596Ter) c.1776_1777del (p.His593Ter) | ClinVar dbSNP |
| 5 | g.37000470T>A | CA3236333 | NIPBL | c.3402T>A (p.Ser1134=) n.753T>A c.1-64108T>A (n.1-64108T>A) c.2658T>A (p.Ser886=) c.3305-347T>A (n.3305-347T>A) c.3122-347T>A (n.3122-347T>A) c.2742T>A (p.Ser914=) c.1785T>A (p.Ser595=) c.1776T>A (p.Ser592=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37000470T>C | CA443904286 | NIPBL | c.3402T>C (p.Ser1134=) n.753T>C c.1-64108T>C (n.1-64108T>C) c.2658T>C (p.Ser886=) c.3305-347T>C (n.3305-347T>C) c.3122-347T>C (n.3122-347T>C) c.2742T>C (p.Ser914=) c.1785T>C (p.Ser595=) c.1776T>C (p.Ser592=) | dbSNP gnomAD v2 |
| 5 | g.37000470T>G | CA443904287 | NIPBL | c.3402T>G (p.Ser1134=) n.753T>G c.1-64108T>G (n.1-64108T>G) c.2658T>G (p.Ser886=) c.3305-347T>G (n.3305-347T>G) c.3122-347T>G (n.3122-347T>G) c.2742T>G (p.Ser914=) c.1785T>G (p.Ser595=) c.1776T>G (p.Ser592=) | |
| 5 | g.37000470T= | CA1539600881 | NIPBL | c.3402T= (p.Ser1134=) n.753T= c.1-64108T= (n.1-64108T=) c.2658T= (p.Ser886=) c.3305-347T= (n.3305-347T=) c.3122-347T= (n.3122-347T=) c.2742T= (p.Ser914=) c.1785T= (p.Ser595=) c.1776T= (p.Ser592=) | |
| 5 | g.37000471C>A | CA359517809 | NIPBL | c.3403C>A (p.His1135Asn) n.754C>A c.1-64107C>A (n.1-64107C>A) c.2659C>A (p.His887Asn) c.3305-346C>A (n.3305-346C>A) c.3122-346C>A (n.3122-346C>A) c.2743C>A (p.His915Asn) c.1786C>A (p.His596Asn) c.1777C>A (p.His593Asn) | gnomAD v4 COSMIC COSMIC |
| 5 | g.37000471C>G | CA359517810 | NIPBL | c.3403C>G (p.His1135Asp) n.754C>G c.1-64107C>G (n.1-64107C>G) c.2659C>G (p.His887Asp) c.3305-346C>G (n.3305-346C>G) c.3122-346C>G (n.3122-346C>G) c.2743C>G (p.His915Asp) c.1786C>G (p.His596Asp) c.1777C>G (p.His593Asp) | |
| 5 | g.37000471C>T | CA359517811 | NIPBL | c.3403C>T (p.His1135Tyr) n.754C>T c.1-64107C>T (n.1-64107C>T) c.2659C>T (p.His887Tyr) c.3305-346C>T (n.3305-346C>T) c.3122-346C>T (n.3122-346C>T) c.2743C>T (p.His915Tyr) c.1786C>T (p.His596Tyr) c.1777C>T (p.His593Tyr) | |
| 5 | g.37000472A= | CA1539600884 | NIPBL | c.3404A= (p.His1135=) n.755A= c.1-64106A= (n.1-64106A=) c.2660A= (p.His887=) c.3305-345A= (n.3305-345A=) c.3122-345A= (n.3122-345A=) c.2744A= (p.His915=) c.1787A= (p.His596=) c.1778A= (p.His593=) | |
| 5 | g.37000472A>C | CA359517812 | NIPBL | c.3404A>C (p.His1135Pro) n.755A>C c.1-64106A>C (n.1-64106A>C) c.2660A>C (p.His887Pro) c.3305-345A>C (n.3305-345A>C) c.3122-345A>C (n.3122-345A>C) c.2744A>C (p.His915Pro) c.1787A>C (p.His596Pro) c.1778A>C (p.His593Pro) | |
| 5 | g.37000472A>G | CA359517813 | NIPBL | c.3404A>G (p.His1135Arg) n.755A>G c.1-64106A>G (n.1-64106A>G) c.2660A>G (p.His887Arg) c.3305-345A>G (n.3305-345A>G) c.3122-345A>G (n.3122-345A>G) c.2744A>G (p.His915Arg) c.1787A>G (p.His596Arg) c.1778A>G (p.His593Arg) | |
| 5 | g.37000472A>T | CA359517814 | NIPBL | c.3404A>T (p.His1135Leu) n.755A>T c.1-64106A>T (n.1-64106A>T) c.2660A>T (p.His887Leu) c.3305-345A>T (n.3305-345A>T) c.3122-345A>T (n.3122-345A>T) c.2744A>T (p.His915Leu) c.1787A>T (p.His596Leu) c.1778A>T (p.His593Leu) | |
| 5 | g.37000473T>A | CA359517815 | NIPBL | c.3405T>A (p.His1135Gln) n.756T>A c.1-64105T>A (n.1-64105T>A) c.2661T>A (p.His887Gln) c.3305-344T>A (n.3305-344T>A) c.3122-344T>A (n.3122-344T>A) c.2745T>A (p.His915Gln) c.1788T>A (p.His596Gln) c.1779T>A (p.His593Gln) | |
| 5 | g.37000473T>C | CA443904289 | NIPBL | c.3405T>C (p.His1135=) n.756T>C c.1-64105T>C (n.1-64105T>C) c.2661T>C (p.His887=) c.3305-344T>C (n.3305-344T>C) c.3122-344T>C (n.3122-344T>C) c.2745T>C (p.His915=) c.1788T>C (p.His596=) c.1779T>C (p.His593=) | ClinVar gnomAD v4 |
| 5 | g.37000473T>G | CA359517816 | NIPBL | c.3405T>G (p.His1135Gln) n.756T>G c.1-64105T>G (n.1-64105T>G) c.2661T>G (p.His887Gln) c.3305-344T>G (n.3305-344T>G) c.3122-344T>G (n.3122-344T>G) c.2745T>G (p.His915Gln) c.1788T>G (p.His596Gln) c.1779T>G (p.His593Gln) | |
| 5 | g.37000473dup | CA1539600889 | NIPBL | c.3405dup (p.Glu1136Ter) n.756dup c.1-64105dup (n.1-64105dup) c.2661dup (p.Glu888Ter) c.3305-344dup (n.3305-344dup) c.3122-344dup (n.3122-344dup) c.2745dup (p.Glu916Ter) c.1788dup (p.Glu597Ter) c.1779dup (p.Glu594Ter) | dbSNP |
| 5 | g.37000473_37000477delinsTGAAG | CA1539600891 | NIPBL | c.3405_3409delinsTGAAG (p.His1135=) n.756_760delinsTGAAG c.1-64105_1-64101delinsTGAAG (n.1-64105_1-64101delinsTGAAG) c.2661_2665delinsTGAAG (p.His887=) c.3305-344_3305-340delinsTGAAG (n.3305-344_3305-340delinsTGAAG) c.3122-344_3122-340delinsTGAAG (n.3122-344_3122-340delinsTGAAG) c.2745_2749delinsTGAAG (p.His915=) c.1788_1792delinsTGAAG (p.His596=) c.1779_1783delinsTGAAG (p.His593=) | |
| 5 | g.37000474G>A | CA359517817 | NIPBL | c.3406G>A (p.Glu1136Lys) n.757G>A c.1-64104G>A (n.1-64104G>A) c.2662G>A (p.Glu888Lys) c.3305-343G>A (n.3305-343G>A) c.3122-343G>A (n.3122-343G>A) c.2746G>A (p.Glu916Lys) c.1789G>A (p.Glu597Lys) c.1780G>A (p.Glu594Lys) | |
| 5 | g.37000474G>C | CA359517818 | NIPBL | c.3406G>C (p.Glu1136Gln) n.757G>C c.1-64104G>C (n.1-64104G>C) c.2662G>C (p.Glu888Gln) c.3305-343G>C (n.3305-343G>C) c.3122-343G>C (n.3122-343G>C) c.2746G>C (p.Glu916Gln) c.1789G>C (p.Glu597Gln) c.1780G>C (p.Glu594Gln) | |
| 5 | g.37000474G>T | CA359517819 | NIPBL | c.3406G>T (p.Glu1136Ter) n.757G>T c.1-64104G>T (n.1-64104G>T) c.2662G>T (p.Glu888Ter) c.3305-343G>T (n.3305-343G>T) c.3122-343G>T (n.3122-343G>T) c.2746G>T (p.Glu916Ter) c.1789G>T (p.Glu597Ter) c.1780G>T (p.Glu594Ter) | ClinVar dbSNP |
| 5 | g.37000478_37000481del | CA16042526 | NIPBL | c.3410_3413del (p.Gly1137GlufsTer?) n.761_764del c.1-64100_1-64097del (n.1-64100_1-64097del) c.2666_2669del (p.Gly889GlufsTer?) c.3305-339_3305-336del (n.3305-339_3305-336del) c.3122-339_3122-336del (n.3122-339_3122-336del) c.2750_2753del (p.Gly917GlufsTer?) c.1793_1796del (p.Gly598GlufsTer?) c.1784_1787del (p.Gly595GlufsTer?) | ClinVar dbSNP |
| 5 | g.37000475A>C | CA359517820 | NIPBL | c.3407A>C (p.Glu1136Ala) n.758A>C c.1-64103A>C (n.1-64103A>C) c.2663A>C (p.Glu888Ala) c.3305-342A>C (n.3305-342A>C) c.3122-342A>C (n.3122-342A>C) c.2747A>C (p.Glu916Ala) c.1790A>C (p.Glu597Ala) c.1781A>C (p.Glu594Ala) | |
| 5 | g.37000475A>G | CA359517821 | NIPBL | c.3407A>G (p.Glu1136Gly) n.758A>G c.1-64103A>G (n.1-64103A>G) c.2663A>G (p.Glu888Gly) c.3305-342A>G (n.3305-342A>G) c.3122-342A>G (n.3122-342A>G) c.2747A>G (p.Glu916Gly) c.1790A>G (p.Glu597Gly) c.1781A>G (p.Glu594Gly) | |
| 5 | g.37000475A>T | CA359517822 | NIPBL | c.3407A>T (p.Glu1136Val) n.758A>T c.1-64103A>T (n.1-64103A>T) c.2663A>T (p.Glu888Val) c.3305-342A>T (n.3305-342A>T) c.3122-342A>T (n.3122-342A>T) c.2747A>T (p.Glu916Val) c.1790A>T (p.Glu597Val) c.1781A>T (p.Glu594Val) | |
| 5 | g.37000476A>C | CA359517823 | NIPBL | c.3408A>C (p.Glu1136Asp) n.759A>C c.1-64102A>C (n.1-64102A>C) c.2664A>C (p.Glu888Asp) c.3305-341A>C (n.3305-341A>C) c.3122-341A>C (n.3122-341A>C) c.2748A>C (p.Glu916Asp) c.1791A>C (p.Glu597Asp) c.1782A>C (p.Glu594Asp) | |
| 5 | g.37000476A>G | CA443904294 | NIPBL | c.3408A>G (p.Glu1136=) n.759A>G c.1-64102A>G (n.1-64102A>G) c.2664A>G (p.Glu888=) c.3305-341A>G (n.3305-341A>G) c.3122-341A>G (n.3122-341A>G) c.2748A>G (p.Glu916=) c.1791A>G (p.Glu597=) c.1782A>G (p.Glu594=) | |
| 5 | g.37000476A>T | CA359517824 | NIPBL | c.3408A>T (p.Glu1136Asp) n.759A>T c.1-64102A>T (n.1-64102A>T) c.2664A>T (p.Glu888Asp) c.3305-341A>T (n.3305-341A>T) c.3122-341A>T (n.3122-341A>T) c.2748A>T (p.Glu916Asp) c.1791A>T (p.Glu597Asp) c.1782A>T (p.Glu594Asp) | |
| 5 | g.37000477G>A | CA117055994 | NIPBL | c.3409G>A (p.Gly1137Arg) n.760G>A c.1-64101G>A (n.1-64101G>A) c.2665G>A (p.Gly889Arg) c.3305-340G>A (n.3305-340G>A) c.3122-340G>A (n.3122-340G>A) c.2749G>A (p.Gly917Arg) c.1792G>A (p.Gly598Arg) c.1783G>A (p.Gly595Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37000477G>C | CA359517825 | NIPBL | c.3409G>C (p.Gly1137Arg) n.760G>C c.1-64101G>C (n.1-64101G>C) c.2665G>C (p.Gly889Arg) c.3305-340G>C (n.3305-340G>C) c.3122-340G>C (n.3122-340G>C) c.2749G>C (p.Gly917Arg) c.1792G>C (p.Gly598Arg) c.1783G>C (p.Gly595Arg) | |
| 5 | g.37000477G= | CA1539600906 | NIPBL | c.3409G= (p.Gly1137=) n.760G= c.1-64101G= (n.1-64101G=) c.2665G= (p.Gly889=) c.3305-340G= (n.3305-340G=) c.3122-340G= (n.3122-340G=) c.2749G= (p.Gly917=) c.1792G= (p.Gly598=) c.1783G= (p.Gly595=) | |
| 5 | g.37000477G>T | CA359517826 | NIPBL | c.3409G>T (p.Gly1137Ter) n.760G>T c.1-64101G>T (n.1-64101G>T) c.2665G>T (p.Gly889Ter) c.3305-340G>T (n.3305-340G>T) c.3122-340G>T (n.3122-340G>T) c.2749G>T (p.Gly917Ter) c.1792G>T (p.Gly598Ter) c.1783G>T (p.Gly595Ter) | |
| 5 | g.37000477_37000480delinsGGAA | CA1539600903 | NIPBL | c.3409_3412delinsGGAA (p.Gly1137=) n.760_763delinsGGAA c.1-64101_1-64098delinsGGAA (n.1-64101_1-64098delinsGGAA) c.2665_2668delinsGGAA (p.Gly889=) c.3305-340_3305-337delinsGGAA (n.3305-340_3305-337delinsGGAA) c.3122-340_3122-337delinsGGAA (n.3122-340_3122-337delinsGGAA) c.2749_2752delinsGGAA (p.Gly917=) c.1792_1795delinsGGAA (p.Gly598=) c.1783_1786delinsGGAA (p.Gly595=) | |
| 5 | g.37000478G>A | CA359517827 | NIPBL | c.3410G>A (p.Gly1137Glu) n.761G>A c.1-64100G>A (n.1-64100G>A) c.2666G>A (p.Gly889Glu) c.3305-339G>A (n.3305-339G>A) c.3122-339G>A (n.3122-339G>A) c.2750G>A (p.Gly917Glu) c.1793G>A (p.Gly598Glu) c.1784G>A (p.Gly595Glu) | |
| 5 | g.37000478G>C | CA359517828 | NIPBL | c.3410G>C (p.Gly1137Ala) n.761G>C c.1-64100G>C (n.1-64100G>C) c.2666G>C (p.Gly889Ala) c.3305-339G>C (n.3305-339G>C) c.3122-339G>C (n.3122-339G>C) c.2750G>C (p.Gly917Ala) c.1793G>C (p.Gly598Ala) c.1784G>C (p.Gly595Ala) | |
| 5 | g.37000478G>T | CA359517829 | NIPBL | c.3410G>T (p.Gly1137Val) n.761G>T c.1-64100G>T (n.1-64100G>T) c.2666G>T (p.Gly889Val) c.3305-339G>T (n.3305-339G>T) c.3122-339G>T (n.3122-339G>T) c.2750G>T (p.Gly917Val) c.1793G>T (p.Gly598Val) c.1784G>T (p.Gly595Val) | |
| 5 | g.37000482_37000484del | CA645547470 | NIPBL | c.3414_3416del (p.Arg1139del) n.765_767del c.1-64096_1-64094del (n.1-64096_1-64094del) c.2670_2672del (p.Arg891del) c.3305-335_3305-333del (n.3305-335_3305-333del) c.3122-335_3122-333del (n.3122-335_3122-333del) c.2754_2756del (p.Arg919del) c.1797_1799del (p.Arg600del) c.1788_1790del (p.Arg597del) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.37000479A>C | CA443904296 | NIPBL | c.3411A>C (p.Gly1137=) n.762A>C c.1-64099A>C (n.1-64099A>C) c.2667A>C (p.Gly889=) c.3305-338A>C (n.3305-338A>C) c.3122-338A>C (n.3122-338A>C) c.2751A>C (p.Gly917=) c.1794A>C (p.Gly598=) c.1785A>C (p.Gly595=) | |
| 5 | g.37000479A>G | CA443904297 | NIPBL | c.3411A>G (p.Gly1137=) n.762A>G c.1-64099A>G (n.1-64099A>G) c.2667A>G (p.Gly889=) c.3305-338A>G (n.3305-338A>G) c.3122-338A>G (n.3122-338A>G) c.2751A>G (p.Gly917=) c.1794A>G (p.Gly598=) c.1785A>G (p.Gly595=) | |
| 5 | g.37000479A>T | CA443904298 | NIPBL | c.3411A>T (p.Gly1137=) n.762A>T c.1-64099A>T (n.1-64099A>T) c.2667A>T (p.Gly889=) c.3305-338A>T (n.3305-338A>T) c.3122-338A>T (n.3122-338A>T) c.2751A>T (p.Gly917=) c.1794A>T (p.Gly598=) c.1785A>T (p.Gly595=) | |
| 5 | g.37000480A= | CA1539600914 | NIPBL | c.3412A= (p.Arg1138=) n.763A= c.1-64098A= (n.1-64098A=) c.2668A= (p.Arg890=) c.3305-337A= (n.3305-337A=) c.3122-337A= (n.3122-337A=) c.2752A= (p.Arg918=) c.1795A= (p.Arg599=) c.1786A= (p.Arg596=) | |
| 5 | g.37000480A>C | CA3236334 | NIPBL | c.3412A>C (p.Arg1138=) n.763A>C c.1-64098A>C (n.1-64098A>C) c.2668A>C (p.Arg890=) c.3305-337A>C (n.3305-337A>C) c.3122-337A>C (n.3122-337A>C) c.2752A>C (p.Arg918=) c.1795A>C (p.Arg599=) c.1786A>C (p.Arg596=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37000480A>G | CA117056009 | NIPBL | c.3412A>G (p.Arg1138Gly) n.763A>G c.1-64098A>G (n.1-64098A>G) c.2668A>G (p.Arg890Gly) c.3305-337A>G (n.3305-337A>G) c.3122-337A>G (n.3122-337A>G) c.2752A>G (p.Arg918Gly) c.1795A>G (p.Arg599Gly) c.1786A>G (p.Arg596Gly) | dbSNP gnomAD v4 |
| 5 | g.37000480A>T | CA359517830 | NIPBL | c.3412A>T (p.Arg1138Ter) n.763A>T c.1-64098A>T (n.1-64098A>T) c.2668A>T (p.Arg890Ter) c.3305-337A>T (n.3305-337A>T) c.3122-337A>T (n.3122-337A>T) c.2752A>T (p.Arg918Ter) c.1795A>T (p.Arg599Ter) c.1786A>T (p.Arg596Ter) | |
| 5 | g.37000481G>A | CA359517831 | NIPBL | c.3413G>A (p.Arg1138Lys) n.764G>A c.1-64097G>A (n.1-64097G>A) c.2669G>A (p.Arg890Lys) c.3305-336G>A (n.3305-336G>A) c.3122-336G>A (n.3122-336G>A) c.2753G>A (p.Arg918Lys) c.1796G>A (p.Arg599Lys) c.1787G>A (p.Arg596Lys) | |
| 5 | g.37000481G>C | CA359517832 | NIPBL | c.3413G>C (p.Arg1138Thr) n.764G>C c.1-64097G>C (n.1-64097G>C) c.2669G>C (p.Arg890Thr) c.3305-336G>C (n.3305-336G>C) c.3122-336G>C (n.3122-336G>C) c.2753G>C (p.Arg918Thr) c.1796G>C (p.Arg599Thr) c.1787G>C (p.Arg596Thr) | |
| 5 | g.37000481G>T | CA359517833 | NIPBL | c.3413G>T (p.Arg1138Ile) n.764G>T c.1-64097G>T (n.1-64097G>T) c.2669G>T (p.Arg890Ile) c.3305-336G>T (n.3305-336G>T) c.3122-336G>T (n.3122-336G>T) c.2753G>T (p.Arg918Ile) c.1796G>T (p.Arg599Ile) c.1787G>T (p.Arg596Ile) | |
| 5 | g.37000482A= | CA1539600918 | NIPBL | c.3414A= (p.Arg1138=) n.765A= c.1-64096A= (n.1-64096A=) c.2670A= (p.Arg890=) c.3305-335A= (n.3305-335A=) c.3122-335A= (n.3122-335A=) c.2754A= (p.Arg918=) c.1797A= (p.Arg599=) c.1788A= (p.Arg596=) | |
| 5 | g.37000482A>C | CA359517834 | NIPBL | c.3414A>C (p.Arg1138Ser) n.765A>C c.1-64096A>C (n.1-64096A>C) c.2670A>C (p.Arg890Ser) c.3305-335A>C (n.3305-335A>C) c.3122-335A>C (n.3122-335A>C) c.2754A>C (p.Arg918Ser) c.1797A>C (p.Arg599Ser) c.1788A>C (p.Arg596Ser) | |
| 5 | g.37000482A>G | CA443904301 | NIPBL | c.3414A>G (p.Arg1138=) n.765A>G c.1-64096A>G (n.1-64096A>G) c.2670A>G (p.Arg890=) c.3305-335A>G (n.3305-335A>G) c.3122-335A>G (n.3122-335A>G) c.2754A>G (p.Arg918=) c.1797A>G (p.Arg599=) c.1788A>G (p.Arg596=) | dbSNP gnomAD v4 |
| 5 | g.37000482A>T | CA359517835 | NIPBL | c.3414A>T (p.Arg1138Ser) n.765A>T c.1-64096A>T (n.1-64096A>T) c.2670A>T (p.Arg890Ser) c.3305-335A>T (n.3305-335A>T) c.3122-335A>T (n.3122-335A>T) c.2754A>T (p.Arg918Ser) c.1797A>T (p.Arg599Ser) c.1788A>T (p.Arg596Ser) | |
| 5 | g.37000483A= | CA1539600923 | NIPBL | c.3415A= (p.Arg1139=) n.766A= c.1-64095A= (n.1-64095A=) c.2671A= (p.Arg891=) c.3305-334A= (n.3305-334A=) c.3122-334A= (n.3122-334A=) c.2755A= (p.Arg919=) c.1798A= (p.Arg600=) c.1789A= (p.Arg597=) | |
| 5 | g.37000483A>C | CA443904303 | NIPBL | c.3415A>C (p.Arg1139=) n.766A>C c.1-64095A>C (n.1-64095A>C) c.2671A>C (p.Arg891=) c.3305-334A>C (n.3305-334A>C) c.3122-334A>C (n.3122-334A>C) c.2755A>C (p.Arg919=) c.1798A>C (p.Arg600=) c.1789A>C (p.Arg597=) | |
| 5 | g.37000483A>G | CA359517836 | NIPBL | c.3415A>G (p.Arg1139Gly) n.766A>G c.1-64095A>G (n.1-64095A>G) c.2671A>G (p.Arg891Gly) c.3305-334A>G (n.3305-334A>G) c.3122-334A>G (n.3122-334A>G) c.2755A>G (p.Arg919Gly) c.1798A>G (p.Arg600Gly) c.1789A>G (p.Arg597Gly) | |
| 5 | g.37000483A>T | CA359517837 | NIPBL | c.3415A>T (p.Arg1139Trp) n.766A>T c.1-64095A>T (n.1-64095A>T) c.2671A>T (p.Arg891Trp) c.3305-334A>T (n.3305-334A>T) c.3122-334A>T (n.3122-334A>T) c.2755A>T (p.Arg919Trp) c.1798A>T (p.Arg600Trp) c.1789A>T (p.Arg597Trp) | dbSNP |
| 5 | g.37000485_37000487del | CA2673574703 | NIPBL | c.3417_3419del (p.Arg1139del) n.768_770del c.1-64093_1-64091del (n.1-64093_1-64091del) c.2673_2675del (p.Arg891del) c.3305-332_3305-330del (n.3305-332_3305-330del) c.3122-332_3122-330del (n.3122-332_3122-330del) c.2757_2759del (p.Arg919del) c.1800_1802del (p.Arg600del) c.1791_1793del (p.Arg597del) | dbSNP gnomAD v4 |
| 5 | g.37000484G>A | CA359517838 | NIPBL | c.3416G>A (p.Arg1139Lys) n.767G>A c.1-64094G>A (n.1-64094G>A) c.2672G>A (p.Arg891Lys) c.3305-333G>A (n.3305-333G>A) c.3122-333G>A (n.3122-333G>A) c.2756G>A (p.Arg919Lys) c.1799G>A (p.Arg600Lys) c.1790G>A (p.Arg597Lys) | |
| 5 | g.37000484G>C | CA359517839 | NIPBL | c.3416G>C (p.Arg1139Thr) n.767G>C c.1-64094G>C (n.1-64094G>C) c.2672G>C (p.Arg891Thr) c.3305-333G>C (n.3305-333G>C) c.3122-333G>C (n.3122-333G>C) c.2756G>C (p.Arg919Thr) c.1799G>C (p.Arg600Thr) c.1790G>C (p.Arg597Thr) | |
| 5 | g.37000484G>T | CA359517840 | NIPBL | c.3416G>T (p.Arg1139Met) n.767G>T c.1-64094G>T (n.1-64094G>T) c.2672G>T (p.Arg891Met) c.3305-333G>T (n.3305-333G>T) c.3122-333G>T (n.3122-333G>T) c.2756G>T (p.Arg919Met) c.1799G>T (p.Arg600Met) c.1790G>T (p.Arg597Met) | |
| 5 | g.37000485G>A | CA443904305 | NIPBL | c.3417G>A (p.Arg1139=) n.768G>A c.1-64093G>A (n.1-64093G>A) c.2673G>A (p.Arg891=) c.3305-332G>A (n.3305-332G>A) c.3122-332G>A (n.3122-332G>A) c.2757G>A (p.Arg919=) c.1800G>A (p.Arg600=) c.1791G>A (p.Arg597=) | |
| 5 | g.37000485G>C | CA359517841 | NIPBL | c.3417G>C (p.Arg1139Ser) n.768G>C c.1-64093G>C (n.1-64093G>C) c.2673G>C (p.Arg891Ser) c.3305-332G>C (n.3305-332G>C) c.3122-332G>C (n.3122-332G>C) c.2757G>C (p.Arg919Ser) c.1800G>C (p.Arg600Ser) c.1791G>C (p.Arg597Ser) | |
| 5 | g.37000485G>T | CA359517842 | NIPBL | c.3417G>T (p.Arg1139Ser) n.768G>T c.1-64093G>T (n.1-64093G>T) c.2673G>T (p.Arg891Ser) c.3305-332G>T (n.3305-332G>T) c.3122-332G>T (n.3122-332G>T) c.2757G>T (p.Arg919Ser) c.1800G>T (p.Arg600Ser) c.1791G>T (p.Arg597Ser) | |
| 5 | g.37000486A>C | CA359517844 | NIPBL | c.3418A>C (p.Ser1140Arg) n.769A>C c.1-64092A>C (n.1-64092A>C) c.2674A>C (p.Ser892Arg) c.3305-331A>C (n.3305-331A>C) c.3122-331A>C (n.3122-331A>C) c.2758A>C (p.Ser920Arg) c.1801A>C (p.Ser601Arg) c.1792A>C (p.Ser598Arg) | gnomAD v4 |
| 5 | g.37000486A>G | CA359517845 | NIPBL | c.3418A>G (p.Ser1140Gly) n.769A>G c.1-64092A>G (n.1-64092A>G) c.2674A>G (p.Ser892Gly) c.3305-331A>G (n.3305-331A>G) c.3122-331A>G (n.3122-331A>G) c.2758A>G (p.Ser920Gly) c.1801A>G (p.Ser601Gly) c.1792A>G (p.Ser598Gly) | |
| 5 | g.37000486A>T | CA359517843 | NIPBL | c.3418A>T (p.Ser1140Cys) n.769A>T c.1-64092A>T (n.1-64092A>T) c.2674A>T (p.Ser892Cys) c.3305-331A>T (n.3305-331A>T) c.3122-331A>T (n.3122-331A>T) c.2758A>T (p.Ser920Cys) c.1801A>T (p.Ser601Cys) c.1792A>T (p.Ser598Cys) | |
| 5 | g.37000487G>A | CA359517848 | NIPBL | c.3419G>A (p.Ser1140Asn) n.770G>A c.1-64091G>A (n.1-64091G>A) c.2675G>A (p.Ser892Asn) c.3305-330G>A (n.3305-330G>A) c.3122-330G>A (n.3122-330G>A) c.2759G>A (p.Ser920Asn) c.1802G>A (p.Ser601Asn) c.1793G>A (p.Ser598Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.37000487G>C | CA359517846 | NIPBL | c.3419G>C (p.Ser1140Thr) n.770G>C c.1-64091G>C (n.1-64091G>C) c.2675G>C (p.Ser892Thr) c.3305-330G>C (n.3305-330G>C) c.3122-330G>C (n.3122-330G>C) c.2759G>C (p.Ser920Thr) c.1802G>C (p.Ser601Thr) c.1793G>C (p.Ser598Thr) | |
| 5 | g.37000487G= | CA1539600931 | NIPBL | c.3419G= (p.Ser1140=) n.770G= c.1-64091G= (n.1-64091G=) c.2675G= (p.Ser892=) c.3305-330G= (n.3305-330G=) c.3122-330G= (n.3122-330G=) c.2759G= (p.Ser920=) c.1802G= (p.Ser601=) c.1793G= (p.Ser598=) | |
| 5 | g.37000487G>T | CA359517847 | NIPBL | c.3419G>T (p.Ser1140Ile) n.770G>T c.1-64091G>T (n.1-64091G>T) c.2675G>T (p.Ser892Ile) c.3305-330G>T (n.3305-330G>T) c.3122-330G>T (n.3122-330G>T) c.2759G>T (p.Ser920Ile) c.1802G>T (p.Ser601Ile) c.1793G>T (p.Ser598Ile) | |
| 5 | g.37000488T>A | CA359517849 | NIPBL | c.3420T>A (p.Ser1140Arg) n.771T>A c.1-64090T>A (n.1-64090T>A) c.2676T>A (p.Ser892Arg) c.3305-329T>A (n.3305-329T>A) c.3122-329T>A (n.3122-329T>A) c.2760T>A (p.Ser920Arg) c.1803T>A (p.Ser601Arg) c.1794T>A (p.Ser598Arg) | |
| 5 | g.37000488T>C | CA443904309 | NIPBL | c.3420T>C (p.Ser1140=) n.771T>C c.1-64090T>C (n.1-64090T>C) c.2676T>C (p.Ser892=) c.3305-329T>C (n.3305-329T>C) c.3122-329T>C (n.3122-329T>C) c.2760T>C (p.Ser920=) c.1803T>C (p.Ser601=) c.1794T>C (p.Ser598=) | |
| 5 | g.37000488T>G | CA359517850 | NIPBL | c.3420T>G (p.Ser1140Arg) n.771T>G c.1-64090T>G (n.1-64090T>G) c.2676T>G (p.Ser892Arg) c.3305-329T>G (n.3305-329T>G) c.3122-329T>G (n.3122-329T>G) c.2760T>G (p.Ser920Arg) c.1803T>G (p.Ser601Arg) c.1794T>G (p.Ser598Arg) | |
| 5 | g.37000489T>A | CA359517851 | NIPBL | c.3421T>A (p.Ser1141Thr) n.772T>A c.1-64089T>A (n.1-64089T>A) c.2677T>A (p.Ser893Thr) c.3305-328T>A (n.3305-328T>A) c.3122-328T>A (n.3122-328T>A) c.2761T>A (p.Ser921Thr) c.1804T>A (p.Ser602Thr) c.1795T>A (p.Ser599Thr) | |
| 5 | g.37000489T>C | CA359517852 | NIPBL | c.3421T>C (p.Ser1141Pro) n.772T>C c.1-64089T>C (n.1-64089T>C) c.2677T>C (p.Ser893Pro) c.3305-328T>C (n.3305-328T>C) c.3122-328T>C (n.3122-328T>C) c.2761T>C (p.Ser921Pro) c.1804T>C (p.Ser602Pro) c.1795T>C (p.Ser599Pro) | |
| 5 | g.37000489T>G | CA359517853 | NIPBL | c.3421T>G (p.Ser1141Ala) n.772T>G c.1-64089T>G (n.1-64089T>G) c.2677T>G (p.Ser893Ala) c.3305-328T>G (n.3305-328T>G) c.3122-328T>G (n.3122-328T>G) c.2761T>G (p.Ser921Ala) c.1804T>G (p.Ser602Ala) c.1795T>G (p.Ser599Ala) | |
| 5 | g.37000490C>A | CA359517854 | NIPBL | c.3422C>A (p.Ser1141Ter) n.773C>A c.1-64088C>A (n.1-64088C>A) c.2678C>A (p.Ser893Ter) c.3305-327C>A (n.3305-327C>A) c.3122-327C>A (n.3122-327C>A) c.2762C>A (p.Ser921Ter) c.1805C>A (p.Ser602Ter) c.1796C>A (p.Ser599Ter) | |
| 5 | g.37000490C>G | CA359517856 | NIPBL | c.3422C>G (p.Ser1141Ter) n.773C>G c.1-64088C>G (n.1-64088C>G) c.2678C>G (p.Ser893Ter) c.3305-327C>G (n.3305-327C>G) c.3122-327C>G (n.3122-327C>G) c.2762C>G (p.Ser921Ter) c.1805C>G (p.Ser602Ter) c.1796C>G (p.Ser599Ter) | |
| 5 | g.37000490C>T | CA359517855 | NIPBL | c.3422C>T (p.Ser1141Leu) n.773C>T c.1-64088C>T (n.1-64088C>T) c.2678C>T (p.Ser893Leu) c.3305-327C>T (n.3305-327C>T) c.3122-327C>T (n.3122-327C>T) c.2762C>T (p.Ser921Leu) c.1805C>T (p.Ser602Leu) c.1796C>T (p.Ser599Leu) | |
| 5 | g.37000491A= | CA1539600940 | NIPBL | c.3423A= (p.Ser1141=) n.774A= c.1-64087A= (n.1-64087A=) c.2679A= (p.Ser893=) c.3305-326A= (n.3305-326A=) c.3122-326A= (n.3122-326A=) c.2763A= (p.Ser921=) c.1806A= (p.Ser602=) c.1797A= (p.Ser599=) | |
| 5 | g.37000491A>C | CA443904312 | NIPBL | c.3423A>C (p.Ser1141=) n.774A>C c.1-64087A>C (n.1-64087A>C) c.2679A>C (p.Ser893=) c.3305-326A>C (n.3305-326A>C) c.3122-326A>C (n.3122-326A>C) c.2763A>C (p.Ser921=) c.1806A>C (p.Ser602=) c.1797A>C (p.Ser599=) | |
| 5 | g.37000491A>G | CA272059 | NIPBL | c.3423A>G (p.Ser1141=) n.774A>G c.1-64087A>G (n.1-64087A>G) c.2679A>G (p.Ser893=) c.3305-326A>G (n.3305-326A>G) c.3122-326A>G (n.3122-326A>G) c.2763A>G (p.Ser921=) c.1806A>G (p.Ser602=) c.1797A>G (p.Ser599=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37000491A>T | CA443904314 | NIPBL | c.3423A>T (p.Ser1141=) n.774A>T c.1-64087A>T (n.1-64087A>T) c.2679A>T (p.Ser893=) c.3305-326A>T (n.3305-326A>T) c.3122-326A>T (n.3122-326A>T) c.2763A>T (p.Ser921=) c.1806A>T (p.Ser602=) c.1797A>T (p.Ser599=) | |
| 5 | g.37000492G>A | CA359517857 | NIPBL | c.3424G>A (p.Gly1142Ser) n.775G>A c.1-64086G>A (n.1-64086G>A) c.2680G>A (p.Gly894Ser) c.3305-325G>A (n.3305-325G>A) c.3122-325G>A (n.3122-325G>A) c.2764G>A (p.Gly922Ser) c.1807G>A (p.Gly603Ser) c.1798G>A (p.Gly600Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37000492G>C | CA359517858 | NIPBL | c.3424G>C (p.Gly1142Arg) n.775G>C c.1-64086G>C (n.1-64086G>C) c.2680G>C (p.Gly894Arg) c.3305-325G>C (n.3305-325G>C) c.3122-325G>C (n.3122-325G>C) c.2764G>C (p.Gly922Arg) c.1807G>C (p.Gly603Arg) c.1798G>C (p.Gly600Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37000492G= | CA1539600953 | NIPBL | c.3424G= (p.Gly1142=) n.775G= c.1-64086G= (n.1-64086G=) c.2680G= (p.Gly894=) c.3305-325G= (n.3305-325G=) c.3122-325G= (n.3122-325G=) c.2764G= (p.Gly922=) c.1807G= (p.Gly603=) c.1798G= (p.Gly600=) | |
| 5 | g.37000492G>T | CA359517859 | NIPBL | c.3424G>T (p.Gly1142Cys) n.775G>T c.1-64086G>T (n.1-64086G>T) c.2680G>T (p.Gly894Cys) c.3305-325G>T (n.3305-325G>T) c.3122-325G>T (n.3122-325G>T) c.2764G>T (p.Gly922Cys) c.1807G>T (p.Gly603Cys) c.1798G>T (p.Gly600Cys) | |
| 5 | g.37000493dup | CA658821416 | NIPBL | c.3425dup (p.Gly1143TrpfsTer13) n.776dup c.1-64085dup (n.1-64085dup) c.2681dup (p.Gly895TrpfsTer13) c.3305-324dup (n.3305-324dup) c.3122-324dup (n.3122-324dup) c.2765dup (p.Gly923TrpfsTer13) c.1808dup (p.Gly604TrpfsTer13) c.1799dup (p.Gly601TrpfsTer13) | ClinVar dbSNP |
| 5 | g.37000493G>A | CA359517862 | NIPBL | c.3425G>A (p.Gly1142Asp) n.776G>A c.1-64085G>A (n.1-64085G>A) c.2681G>A (p.Gly894Asp) c.3305-324G>A (n.3305-324G>A) c.3122-324G>A (n.3122-324G>A) c.2765G>A (p.Gly922Asp) c.1808G>A (p.Gly603Asp) c.1799G>A (p.Gly600Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37000493G>C | CA359517860 | NIPBL | c.3425G>C (p.Gly1142Ala) n.776G>C c.1-64085G>C (n.1-64085G>C) c.2681G>C (p.Gly894Ala) c.3305-324G>C (n.3305-324G>C) c.3122-324G>C (n.3122-324G>C) c.2765G>C (p.Gly922Ala) c.1808G>C (p.Gly603Ala) c.1799G>C (p.Gly600Ala) | |
| 5 | g.37000493G= | CA1539600957 | NIPBL | c.3425G= (p.Gly1142=) n.776G= c.1-64085G= (n.1-64085G=) c.2681G= (p.Gly894=) c.3305-324G= (n.3305-324G=) c.3122-324G= (n.3122-324G=) c.2765G= (p.Gly922=) c.1808G= (p.Gly603=) c.1799G= (p.Gly600=) | |
| 5 | g.37000493G>T | CA359517861 | NIPBL | c.3425G>T (p.Gly1142Val) n.776G>T c.1-64085G>T (n.1-64085G>T) c.2681G>T (p.Gly894Val) c.3305-324G>T (n.3305-324G>T) c.3122-324G>T (n.3122-324G>T) c.2765G>T (p.Gly922Val) c.1808G>T (p.Gly603Val) c.1799G>T (p.Gly600Val) | |
| 5 | g.37000494T>A | CA443904317 | NIPBL | c.3426T>A (p.Gly1142=) n.777T>A c.1-64084T>A (n.1-64084T>A) c.2682T>A (p.Gly894=) c.3305-323T>A (n.3305-323T>A) c.3122-323T>A (n.3122-323T>A) c.2766T>A (p.Gly922=) c.1809T>A (p.Gly603=) c.1800T>A (p.Gly600=) | |
| 5 | g.37000494T>C | CA443904318 | NIPBL | c.3426T>C (p.Gly1142=) n.777T>C c.1-64084T>C (n.1-64084T>C) c.2682T>C (p.Gly894=) c.3305-323T>C (n.3305-323T>C) c.3122-323T>C (n.3122-323T>C) c.2766T>C (p.Gly922=) c.1809T>C (p.Gly603=) c.1800T>C (p.Gly600=) | |
| 5 | g.37000494T>G | CA443904320 | NIPBL | c.3426T>G (p.Gly1142=) n.777T>G c.1-64084T>G (n.1-64084T>G) c.2682T>G (p.Gly894=) c.3305-323T>G (n.3305-323T>G) c.3122-323T>G (n.3122-323T>G) c.2766T>G (p.Gly922=) c.1809T>G (p.Gly603=) c.1800T>G (p.Gly600=) | |
| 5 | g.37000495G>A | CA359517863 | NIPBL | c.3427G>A (p.Gly1143Ser) n.778G>A c.1-64083G>A (n.1-64083G>A) c.2683G>A (p.Gly895Ser) c.3305-322G>A (n.3305-322G>A) c.3122-322G>A (n.3122-322G>A) c.2767G>A (p.Gly923Ser) c.1810G>A (p.Gly604Ser) c.1801G>A (p.Gly601Ser) | |
| 5 | g.37000495G>C | CA359517864 | NIPBL | c.3427G>C (p.Gly1143Arg) n.778G>C c.1-64083G>C (n.1-64083G>C) c.2683G>C (p.Gly895Arg) c.3305-322G>C (n.3305-322G>C) c.3122-322G>C (n.3122-322G>C) c.2767G>C (p.Gly923Arg) c.1810G>C (p.Gly604Arg) c.1801G>C (p.Gly601Arg) | |
| 5 | g.37000495G= | CA1539600962 | NIPBL | c.3427G= (p.Gly1143=) n.778G= c.1-64083G= (n.1-64083G=) c.2683G= (p.Gly895=) c.3305-322G= (n.3305-322G=) c.3122-322G= (n.3122-322G=) c.2767G= (p.Gly923=) c.1810G= (p.Gly604=) c.1801G= (p.Gly601=) | |
| 5 | g.37000495G>T | CA3236335 | NIPBL | c.3427G>T (p.Gly1143Cys) n.778G>T c.1-64083G>T (n.1-64083G>T) c.2683G>T (p.Gly895Cys) c.3305-322G>T (n.3305-322G>T) c.3122-322G>T (n.3122-322G>T) c.2767G>T (p.Gly923Cys) c.1810G>T (p.Gly604Cys) c.1801G>T (p.Gly601Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37000496G>A | CA359517865 | NIPBL | c.3428G>A (p.Gly1143Asp) n.779G>A c.1-64082G>A (n.1-64082G>A) c.2684G>A (p.Gly895Asp) c.3305-321G>A (n.3305-321G>A) c.3122-321G>A (n.3122-321G>A) c.2768G>A (p.Gly923Asp) c.1811G>A (p.Gly604Asp) c.1802G>A (p.Gly601Asp) | |
| 5 | g.37000496G>C | CA359517866 | NIPBL | c.3428G>C (p.Gly1143Ala) n.779G>C c.1-64082G>C (n.1-64082G>C) c.2684G>C (p.Gly895Ala) c.3305-321G>C (n.3305-321G>C) c.3122-321G>C (n.3122-321G>C) c.2768G>C (p.Gly923Ala) c.1811G>C (p.Gly604Ala) c.1802G>C (p.Gly601Ala) | |
| 5 | g.37000496G= | CA1539600968 | NIPBL | c.3428G= (p.Gly1143=) n.779G= c.1-64082G= (n.1-64082G=) c.2684G= (p.Gly895=) c.3305-321G= (n.3305-321G=) c.3122-321G= (n.3122-321G=) c.2768G= (p.Gly923=) c.1811G= (p.Gly604=) c.1802G= (p.Gly601=) | |
| 5 | g.37000496G>T | CA359517867 | NIPBL | c.3428G>T (p.Gly1143Val) n.779G>T c.1-64082G>T (n.1-64082G>T) c.2684G>T (p.Gly895Val) c.3305-321G>T (n.3305-321G>T) c.3122-321G>T (n.3122-321G>T) c.2768G>T (p.Gly923Val) c.1811G>T (p.Gly604Val) c.1802G>T (p.Gly601Val) | dbSNP |
| 5 | g.37000497T>A | CA443904322 | NIPBL | c.3429T>A (p.Gly1143=) n.780T>A c.1-64081T>A (n.1-64081T>A) c.2685T>A (p.Gly895=) c.3305-320T>A (n.3305-320T>A) c.3122-320T>A (n.3122-320T>A) c.2769T>A (p.Gly923=) c.1812T>A (p.Gly604=) c.1803T>A (p.Gly601=) | |
| 5 | g.37000497T>C | CA3236336 | NIPBL | c.3429T>C (p.Gly1143=) n.780T>C c.1-64081T>C (n.1-64081T>C) c.2685T>C (p.Gly895=) c.3305-320T>C (n.3305-320T>C) c.3122-320T>C (n.3122-320T>C) c.2769T>C (p.Gly923=) c.1812T>C (p.Gly604=) c.1803T>C (p.Gly601=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37000497T>G | CA443904324 | NIPBL | c.3429T>G (p.Gly1143=) n.780T>G c.1-64081T>G (n.1-64081T>G) c.2685T>G (p.Gly895=) c.3305-320T>G (n.3305-320T>G) c.3122-320T>G (n.3122-320T>G) c.2769T>G (p.Gly923=) c.1812T>G (p.Gly604=) c.1803T>G (p.Gly601=) | |
| 5 | g.37000497T= | CA1539600972 | NIPBL | c.3429T= (p.Gly1143=) n.780T= c.1-64081T= (n.1-64081T=) c.2685T= (p.Gly895=) c.3305-320T= (n.3305-320T=) c.3122-320T= (n.3122-320T=) c.2769T= (p.Gly923=) c.1812T= (p.Gly604=) c.1803T= (p.Gly601=) | |
| 5 | g.37000498G>A | CA359517868 | NIPBL | c.3430G>A (p.Gly1144Ser) n.781G>A c.1-64080G>A (n.1-64080G>A) c.2686G>A (p.Gly896Ser) c.3305-319G>A (n.3305-319G>A) c.3122-319G>A (n.3122-319G>A) c.2770G>A (p.Gly924Ser) c.1813G>A (p.Gly605Ser) c.1804G>A (p.Gly602Ser) | gnomAD v4 |
| 5 | g.37000498G>C | CA359517869 | NIPBL | c.3430G>C (p.Gly1144Arg) n.781G>C c.1-64080G>C (n.1-64080G>C) c.2686G>C (p.Gly896Arg) c.3305-319G>C (n.3305-319G>C) c.3122-319G>C (n.3122-319G>C) c.2770G>C (p.Gly924Arg) c.1813G>C (p.Gly605Arg) c.1804G>C (p.Gly602Arg) | |
| 5 | g.37000498G>T | CA359517870 | NIPBL | c.3430G>T (p.Gly1144Cys) n.781G>T c.1-64080G>T (n.1-64080G>T) c.2686G>T (p.Gly896Cys) c.3305-319G>T (n.3305-319G>T) c.3122-319G>T (n.3122-319G>T) c.2770G>T (p.Gly924Cys) c.1813G>T (p.Gly605Cys) c.1804G>T (p.Gly602Cys) | gnomAD v4 |
| 5 | g.37000499G>A | CA359517871 | NIPBL | c.3431G>A (p.Gly1144Asp) n.782G>A c.1-64079G>A (n.1-64079G>A) c.2687G>A (p.Gly896Asp) c.3305-318G>A (n.3305-318G>A) c.3122-318G>A (n.3122-318G>A) c.2771G>A (p.Gly924Asp) c.1814G>A (p.Gly605Asp) c.1805G>A (p.Gly602Asp) | |
| 5 | g.37000499G>C | CA359517872 | NIPBL | c.3431G>C (p.Gly1144Ala) n.782G>C c.1-64079G>C (n.1-64079G>C) c.2687G>C (p.Gly896Ala) c.3305-318G>C (n.3305-318G>C) c.3122-318G>C (n.3122-318G>C) c.2771G>C (p.Gly924Ala) c.1814G>C (p.Gly605Ala) c.1805G>C (p.Gly602Ala) | |
| 5 | g.37000499G>T | CA359517873 | NIPBL | c.3431G>T (p.Gly1144Val) n.782G>T c.1-64079G>T (n.1-64079G>T) c.2687G>T (p.Gly896Val) c.3305-318G>T (n.3305-318G>T) c.3122-318G>T (n.3122-318G>T) c.2771G>T (p.Gly924Val) c.1814G>T (p.Gly605Val) c.1805G>T (p.Gly602Val) | |
| 5 | g.37000500T>A | CA443904325 | NIPBL | c.3432T>A (p.Gly1144=) n.783T>A c.1-64078T>A (n.1-64078T>A) c.2688T>A (p.Gly896=) c.3305-317T>A (n.3305-317T>A) c.3122-317T>A (n.3122-317T>A) c.2772T>A (p.Gly924=) c.1815T>A (p.Gly605=) c.1806T>A (p.Gly602=) | |
| 5 | g.37000500T>C | CA443904326 | NIPBL | c.3432T>C (p.Gly1144=) n.783T>C c.1-64078T>C (n.1-64078T>C) c.2688T>C (p.Gly896=) c.3305-317T>C (n.3305-317T>C) c.3122-317T>C (n.3122-317T>C) c.2772T>C (p.Gly924=) c.1815T>C (p.Gly605=) c.1806T>C (p.Gly602=) | COSMIC COSMIC |
| 5 | g.37000500T>G | CA443904327 | NIPBL | c.3432T>G (p.Gly1144=) n.783T>G c.1-64078T>G (n.1-64078T>G) c.2688T>G (p.Gly896=) c.3305-317T>G (n.3305-317T>G) c.3122-317T>G (n.3122-317T>G) c.2772T>G (p.Gly924=) c.1815T>G (p.Gly605=) c.1806T>G (p.Gly602=) | |
| 5 | g.37000501C>A | CA359517874 | NIPBL | c.3433C>A (p.Arg1145Ser) n.784C>A c.1-64077C>A (n.1-64077C>A) c.2689C>A (p.Arg897Ser) c.3305-316C>A (n.3305-316C>A) c.3122-316C>A (n.3122-316C>A) c.2773C>A (p.Arg925Ser) c.1816C>A (p.Arg606Ser) c.1807C>A (p.Arg603Ser) | gnomAD v4 |
| 5 | g.37000501C= | CA1539600979 | NIPBL | c.3433C= (p.Arg1145=) n.784C= c.1-64077C= (n.1-64077C=) c.2689C= (p.Arg897=) c.3305-316C= (n.3305-316C=) c.3122-316C= (n.3122-316C=) c.2773C= (p.Arg925=) c.1816C= (p.Arg606=) c.1807C= (p.Arg603=) | |
| 5 | g.37000501C>G | CA359517875 | NIPBL | c.3433C>G (p.Arg1145Gly) n.784C>G c.1-64077C>G (n.1-64077C>G) c.2689C>G (p.Arg897Gly) c.3305-316C>G (n.3305-316C>G) c.3122-316C>G (n.3122-316C>G) c.2773C>G (p.Arg925Gly) c.1816C>G (p.Arg606Gly) c.1807C>G (p.Arg603Gly) | |
| 5 | g.37000501C>T | CA117056071 | NIPBL | c.3433C>T (p.Arg1145Cys) n.784C>T c.1-64077C>T (n.1-64077C>T) c.2689C>T (p.Arg897Cys) c.3305-316C>T (n.3305-316C>T) c.3122-316C>T (n.3122-316C>T) c.2773C>T (p.Arg925Cys) c.1816C>T (p.Arg606Cys) c.1807C>T (p.Arg603Cys) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 5 | g.37000502G>A | CA359517876 | NIPBL | c.3434G>A (p.Arg1145His) n.785G>A c.1-64076G>A (n.1-64076G>A) c.2690G>A (p.Arg897His) c.3305-315G>A (n.3305-315G>A) c.3122-315G>A (n.3122-315G>A) c.2774G>A (p.Arg925His) c.1817G>A (p.Arg606His) c.1808G>A (p.Arg603His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37000502G>C | CA359517877 | NIPBL | c.3434G>C (p.Arg1145Pro) n.785G>C c.1-64076G>C (n.1-64076G>C) c.2690G>C (p.Arg897Pro) c.3305-315G>C (n.3305-315G>C) c.3122-315G>C (n.3122-315G>C) c.2774G>C (p.Arg925Pro) c.1817G>C (p.Arg606Pro) c.1808G>C (p.Arg603Pro) | |
| 5 | g.37000502G= | CA1539600985 | NIPBL | c.3434G= (p.Arg1145=) n.785G= c.1-64076G= (n.1-64076G=) c.2690G= (p.Arg897=) c.3305-315G= (n.3305-315G=) c.3122-315G= (n.3122-315G=) c.2774G= (p.Arg925=) c.1817G= (p.Arg606=) c.1808G= (p.Arg603=) | |
| 5 | g.37000502G>T | CA359517878 | NIPBL | c.3434G>T (p.Arg1145Leu) n.785G>T c.1-64076G>T (n.1-64076G>T) c.2690G>T (p.Arg897Leu) c.3305-315G>T (n.3305-315G>T) c.3122-315G>T (n.3122-315G>T) c.2774G>T (p.Arg925Leu) c.1817G>T (p.Arg606Leu) c.1808G>T (p.Arg603Leu) | |
| 5 | g.37000503T>A | CA443904328 | NIPBL | c.3435T>A (p.Arg1145=) n.786T>A c.1-64075T>A (n.1-64075T>A) c.2691T>A (p.Arg897=) c.3305-314T>A (n.3305-314T>A) c.3122-314T>A (n.3122-314T>A) c.2775T>A (p.Arg925=) c.1818T>A (p.Arg606=) c.1809T>A (p.Arg603=) | |
| 5 | g.37000503T>C | CA443904330 | NIPBL | c.3435T>C (p.Arg1145=) n.786T>C c.1-64075T>C (n.1-64075T>C) c.2691T>C (p.Arg897=) c.3305-314T>C (n.3305-314T>C) c.3122-314T>C (n.3122-314T>C) c.2775T>C (p.Arg925=) c.1818T>C (p.Arg606=) c.1809T>C (p.Arg603=) | |
| 5 | g.37000503T>G | CA443904329 | NIPBL | c.3435T>G (p.Arg1145=) n.786T>G c.1-64075T>G (n.1-64075T>G) c.2691T>G (p.Arg897=) c.3305-314T>G (n.3305-314T>G) c.3122-314T>G (n.3122-314T>G) c.2775T>G (p.Arg925=) c.1818T>G (p.Arg606=) c.1809T>G (p.Arg603=) | |
| 5 | g.37000504T>A | CA359517879 | NIPBL | c.3436T>A (p.Tyr1146Asn) n.787T>A c.1-64074T>A (n.1-64074T>A) c.2692T>A (p.Tyr898Asn) c.3305-313T>A (n.3305-313T>A) c.3122-313T>A (n.3122-313T>A) c.2776T>A (p.Tyr926Asn) c.1819T>A (p.Tyr607Asn) c.1810T>A (p.Tyr604Asn) | |
| 5 | g.37000504T>C | CA359517880 | NIPBL | c.3436T>C (p.Tyr1146His) n.787T>C c.1-64074T>C (n.1-64074T>C) c.2692T>C (p.Tyr898His) c.3305-313T>C (n.3305-313T>C) c.3122-313T>C (n.3122-313T>C) c.2776T>C (p.Tyr926His) c.1819T>C (p.Tyr607His) c.1810T>C (p.Tyr604His) | |
| 5 | g.37000504T>G | CA359517881 | NIPBL | c.3436T>G (p.Tyr1146Asp) n.787T>G c.1-64074T>G (n.1-64074T>G) c.2692T>G (p.Tyr898Asp) c.3305-313T>G (n.3305-313T>G) c.3122-313T>G (n.3122-313T>G) c.2776T>G (p.Tyr926Asp) c.1819T>G (p.Tyr607Asp) c.1810T>G (p.Tyr604Asp) | |
| 5 | g.37000505A>C | CA359517884 | NIPBL | c.3437A>C (p.Tyr1146Ser) n.788A>C c.1-64073A>C (n.1-64073A>C) c.2693A>C (p.Tyr898Ser) c.3305-312A>C (n.3305-312A>C) c.3122-312A>C (n.3122-312A>C) c.2777A>C (p.Tyr926Ser) c.1820A>C (p.Tyr607Ser) c.1811A>C (p.Tyr604Ser) | |
| 5 | g.37000505A>G | CA359517882 | NIPBL | c.3437A>G (p.Tyr1146Cys) n.788A>G c.1-64073A>G (n.1-64073A>G) c.2693A>G (p.Tyr898Cys) c.3305-312A>G (n.3305-312A>G) c.3122-312A>G (n.3122-312A>G) c.2777A>G (p.Tyr926Cys) c.1820A>G (p.Tyr607Cys) c.1811A>G (p.Tyr604Cys) | |
| 5 | g.37000505A>T | CA359517883 | NIPBL | c.3437A>T (p.Tyr1146Phe) n.788A>T c.1-64073A>T (n.1-64073A>T) c.2693A>T (p.Tyr898Phe) c.3305-312A>T (n.3305-312A>T) c.3122-312A>T (n.3122-312A>T) c.2777A>T (p.Tyr926Phe) c.1820A>T (p.Tyr607Phe) c.1811A>T (p.Tyr604Phe) | |
| 5 | g.37000506T>A | CA359517885 | NIPBL | c.3438T>A (p.Tyr1146Ter) n.789T>A c.1-64072T>A (n.1-64072T>A) c.2694T>A (p.Tyr898Ter) c.3305-311T>A (n.3305-311T>A) c.3122-311T>A (n.3122-311T>A) c.2778T>A (p.Tyr926Ter) c.1821T>A (p.Tyr607Ter) c.1812T>A (p.Tyr604Ter) | |
| 5 | g.37000506T>C | CA3236337 | NIPBL | c.3438T>C (p.Tyr1146=) n.789T>C c.1-64072T>C (n.1-64072T>C) c.2694T>C (p.Tyr898=) c.3305-311T>C (n.3305-311T>C) c.3122-311T>C (n.3122-311T>C) c.2778T>C (p.Tyr926=) c.1821T>C (p.Tyr607=) c.1812T>C (p.Tyr604=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37000506T>G | CA359517886 | NIPBL | c.3438T>G (p.Tyr1146Ter) n.789T>G c.1-64072T>G (n.1-64072T>G) c.2694T>G (p.Tyr898Ter) c.3305-311T>G (n.3305-311T>G) c.3122-311T>G (n.3122-311T>G) c.2778T>G (p.Tyr926Ter) c.1821T>G (p.Tyr607Ter) c.1812T>G (p.Tyr604Ter) | |
| 5 | g.37000506T= | CA1539600992 | NIPBL | c.3438T= (p.Tyr1146=) n.789T= c.1-64072T= (n.1-64072T=) c.2694T= (p.Tyr898=) c.3305-311T= (n.3305-311T=) c.3122-311T= (n.3122-311T=) c.2778T= (p.Tyr926=) c.1821T= (p.Tyr607=) c.1812T= (p.Tyr604=) | |
| 5 | g.37000507C>A | CA443904334 | NIPBL | c.3439C>A (p.Arg1147=) c.1-64071C>A (n.1-64071C>A) c.2695C>A (p.Arg899=) c.3305-310C>A (n.3305-310C>A) c.3122-310C>A (n.3122-310C>A) c.2779C>A (p.Arg927=) c.1822C>A (p.Arg608=) c.1813C>A (p.Arg605=) | |
| 5 | g.37000507C= | CA1539601004 | NIPBL | c.3439C= (p.Arg1147=) c.1-64071C= (n.1-64071C=) c.2695C= (p.Arg899=) c.3305-310C= (n.3305-310C=) c.3122-310C= (n.3122-310C=) c.2779C= (p.Arg927=) c.1822C= (p.Arg608=) c.1813C= (p.Arg605=) | |
| 5 | g.37000507C>G | CA359517887 | NIPBL | c.3439C>G (p.Arg1147Gly) c.1-64071C>G (n.1-64071C>G) c.2695C>G (p.Arg899Gly) c.3305-310C>G (n.3305-310C>G) c.3122-310C>G (n.3122-310C>G) c.2779C>G (p.Arg927Gly) c.1822C>G (p.Arg608Gly) c.1813C>G (p.Arg605Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37000507C>T | CA117056078 | NIPBL | c.3439C>T (p.Arg1147Ter) c.1-64071C>T (n.1-64071C>T) c.2695C>T (p.Arg899Ter) c.3305-310C>T (n.3305-310C>T) c.3122-310C>T (n.3122-310C>T) c.2779C>T (p.Arg927Ter) c.1822C>T (p.Arg608Ter) c.1813C>T (p.Arg605Ter) | ClinVar dbSNP COSMIC COSMIC |
| 5 | g.37000508G>A | CA272062 | NIPBL | c.3440G>A (p.Arg1147Gln) c.1-64070G>A (n.1-64070G>A) c.2696G>A (p.Arg899Gln) c.3305-309G>A (n.3305-309G>A) c.3122-309G>A (n.3122-309G>A) c.2780G>A (p.Arg927Gln) c.1823G>A (p.Arg608Gln) c.1814G>A (p.Arg605Gln) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 5 | g.37000508G>C | CA359517889 | NIPBL | c.3440G>C (p.Arg1147Pro) c.1-64070G>C (n.1-64070G>C) c.2696G>C (p.Arg899Pro) c.3305-309G>C (n.3305-309G>C) c.3122-309G>C (n.3122-309G>C) c.2780G>C (p.Arg927Pro) c.1823G>C (p.Arg608Pro) c.1814G>C (p.Arg605Pro) | |
| 5 | g.37000508G= | CA1539601018 | NIPBL | c.3440G= (p.Arg1147=) c.1-64070G= (n.1-64070G=) c.2696G= (p.Arg899=) c.3305-309G= (n.3305-309G=) c.3122-309G= (n.3122-309G=) c.2780G= (p.Arg927=) c.1823G= (p.Arg608=) c.1814G= (p.Arg605=) | |
| 5 | g.37000508G>T | CA359517888 | NIPBL | c.3440G>T (p.Arg1147Leu) c.1-64070G>T (n.1-64070G>T) c.2696G>T (p.Arg899Leu) c.3305-309G>T (n.3305-309G>T) c.3122-309G>T (n.3122-309G>T) c.2780G>T (p.Arg927Leu) c.1823G>T (p.Arg608Leu) c.1814G>T (p.Arg605Leu) | |
| 5 | g.37000509A>C | CA443904335 | NIPBL | c.3441A>C (p.Arg1147=) c.1-64069A>C (n.1-64069A>C) c.2697A>C (p.Arg899=) c.3305-308A>C (n.3305-308A>C) c.3122-308A>C (n.3122-308A>C) c.2781A>C (p.Arg927=) c.1824A>C (p.Arg608=) c.1815A>C (p.Arg605=) | |
| 5 | g.37000509A>G | CA443904336 | NIPBL | c.3441A>G (p.Arg1147=) c.1-64069A>G (n.1-64069A>G) c.2697A>G (p.Arg899=) c.3305-308A>G (n.3305-308A>G) c.3122-308A>G (n.3122-308A>G) c.2781A>G (p.Arg927=) c.1824A>G (p.Arg608=) c.1815A>G (p.Arg605=) | |
| 5 | g.37000509A>T | CA443904338 | NIPBL | c.3441A>T (p.Arg1147=) c.1-64069A>T (n.1-64069A>T) c.2697A>T (p.Arg899=) c.3305-308A>T (n.3305-308A>T) c.3122-308A>T (n.3122-308A>T) c.2781A>T (p.Arg927=) c.1824A>T (p.Arg608=) c.1815A>T (p.Arg605=) | |
| 5 | g.37000510A>C | CA359517890 | NIPBL | c.3442A>C (p.Asn1148His) c.1-64068A>C (n.1-64068A>C) c.2698A>C (p.Asn900His) c.3305-307A>C (n.3305-307A>C) c.3122-307A>C (n.3122-307A>C) c.2782A>C (p.Asn928His) c.1825A>C (p.Asn609His) c.1816A>C (p.Asn606His) | |
| 5 | g.37000510A>G | CA359517891 | NIPBL | c.3442A>G (p.Asn1148Asp) c.1-64068A>G (n.1-64068A>G) c.2698A>G (p.Asn900Asp) c.3305-307A>G (n.3305-307A>G) c.3122-307A>G (n.3122-307A>G) c.2782A>G (p.Asn928Asp) c.1825A>G (p.Asn609Asp) c.1816A>G (p.Asn606Asp) | |
| 5 | g.37000510A>T | CA359517892 | NIPBL | c.3442A>T (p.Asn1148Tyr) c.1-64068A>T (n.1-64068A>T) c.2698A>T (p.Asn900Tyr) c.3305-307A>T (n.3305-307A>T) c.3122-307A>T (n.3122-307A>T) c.2782A>T (p.Asn928Tyr) c.1825A>T (p.Asn609Tyr) c.1816A>T (p.Asn606Tyr) | |
| 5 | g.37000511A>C | CA359517893 | NIPBL | c.3443A>C (p.Asn1148Thr) c.1-64067A>C (n.1-64067A>C) c.2699A>C (p.Asn900Thr) c.3305-306A>C (n.3305-306A>C) c.3122-306A>C (n.3122-306A>C) c.2783A>C (p.Asn928Thr) c.1826A>C (p.Asn609Thr) c.1817A>C (p.Asn606Thr) | |
| 5 | g.37000511A>G | CA359517894 | NIPBL | c.3443A>G (p.Asn1148Ser) c.1-64067A>G (n.1-64067A>G) c.2699A>G (p.Asn900Ser) c.3305-306A>G (n.3305-306A>G) c.3122-306A>G (n.3122-306A>G) c.2783A>G (p.Asn928Ser) c.1826A>G (p.Asn609Ser) c.1817A>G (p.Asn606Ser) | |
| 5 | g.37000511A>T | CA359517895 | NIPBL | c.3443A>T (p.Asn1148Ile) c.1-64067A>T (n.1-64067A>T) c.2699A>T (p.Asn900Ile) c.3305-306A>T (n.3305-306A>T) c.3122-306A>T (n.3122-306A>T) c.2783A>T (p.Asn928Ile) c.1826A>T (p.Asn609Ile) c.1817A>T (p.Asn606Ile) | |
| 5 | g.37000512C>A | CA359517896 | NIPBL | c.3444C>A (p.Asn1148Lys) c.1-64066C>A (n.1-64066C>A) c.2700C>A (p.Asn900Lys) c.3305-305C>A (n.3305-305C>A) c.3122-305C>A (n.3122-305C>A) c.2784C>A (p.Asn928Lys) c.1827C>A (p.Asn609Lys) c.1818C>A (p.Asn606Lys) | |
| 5 | g.37000512C>G | CA359517897 | NIPBL | c.3444C>G (p.Asn1148Lys) c.1-64066C>G (n.1-64066C>G) c.2700C>G (p.Asn900Lys) c.3305-305C>G (n.3305-305C>G) c.3122-305C>G (n.3122-305C>G) c.2784C>G (p.Asn928Lys) c.1827C>G (p.Asn609Lys) c.1818C>G (p.Asn606Lys) | |
| 5 | g.37000512C>T | CA443904341 | NIPBL | c.3444C>T (p.Asn1148=) c.1-64066C>T (n.1-64066C>T) c.2700C>T (p.Asn900=) c.3305-305C>T (n.3305-305C>T) c.3122-305C>T (n.3122-305C>T) c.2784C>T (p.Asn928=) c.1827C>T (p.Asn609=) c.1818C>T (p.Asn606=) | |
| 5 | g.37000513C>A | CA443904345 | NIPBL | c.3445C>A (p.Arg1149=) c.1-64065C>A (n.1-64065C>A) c.2701C>A (p.Arg901=) c.3305-304C>A (n.3305-304C>A) c.3122-304C>A (n.3122-304C>A) c.2785C>A (p.Arg929=) c.1828C>A (p.Arg610=) c.1819C>A (p.Arg607=) | gnomAD v4 |
| 5 | g.37000513C= | CA1539601032 | NIPBL | c.3445C= (p.Arg1149=) c.1-64065C= (n.1-64065C=) c.2701C= (p.Arg901=) c.3305-304C= (n.3305-304C=) c.3122-304C= (n.3122-304C=) c.2785C= (p.Arg929=) c.1828C= (p.Arg610=) c.1819C= (p.Arg607=) | |
| 5 | g.37000513C>G | CA359517898 | NIPBL | c.3445C>G (p.Arg1149Gly) c.1-64065C>G (n.1-64065C>G) c.2701C>G (p.Arg901Gly) c.3305-304C>G (n.3305-304C>G) c.3122-304C>G (n.3122-304C>G) c.2785C>G (p.Arg929Gly) c.1828C>G (p.Arg610Gly) c.1819C>G (p.Arg607Gly) | |
| 5 | g.37000513C>T | CA267527 | NIPBL | c.3445C>T (p.Arg1149Ter) c.1-64065C>T (n.1-64065C>T) c.2701C>T (p.Arg901Ter) c.3305-304C>T (n.3305-304C>T) c.3122-304C>T (n.3122-304C>T) c.2785C>T (p.Arg929Ter) c.1828C>T (p.Arg610Ter) c.1819C>T (p.Arg607Ter) | ClinVar dbSNP COSMIC COSMIC |
| 5 | g.37000514G>A | CA359517901 | NIPBL | c.3446G>A (p.Arg1149Gln) c.1-64064G>A (n.1-64064G>A) c.2702G>A (p.Arg901Gln) c.3305-303G>A (n.3305-303G>A) c.3122-303G>A (n.3122-303G>A) c.2786G>A (p.Arg929Gln) c.1829G>A (p.Arg610Gln) c.1820G>A (p.Arg607Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37000514G>C | CA359517900 | NIPBL | c.3446G>C (p.Arg1149Pro) c.1-64064G>C (n.1-64064G>C) c.2702G>C (p.Arg901Pro) c.3305-303G>C (n.3305-303G>C) c.3122-303G>C (n.3122-303G>C) c.2786G>C (p.Arg929Pro) c.1829G>C (p.Arg610Pro) c.1820G>C (p.Arg607Pro) | |
| 5 | g.37000514G= | CA1539601044 | NIPBL | c.3446G= (p.Arg1149=) c.1-64064G= (n.1-64064G=) c.2702G= (p.Arg901=) c.3305-303G= (n.3305-303G=) c.3122-303G= (n.3122-303G=) c.2786G= (p.Arg929=) c.1829G= (p.Arg610=) c.1820G= (p.Arg607=) | |
| 5 | g.37000514G>T | CA359517899 | NIPBL | c.3446G>T (p.Arg1149Leu) c.1-64064G>T (n.1-64064G>T) c.2702G>T (p.Arg901Leu) c.3305-303G>T (n.3305-303G>T) c.3122-303G>T (n.3122-303G>T) c.2786G>T (p.Arg929Leu) c.1829G>T (p.Arg610Leu) c.1820G>T (p.Arg607Leu) | |
| 5 | g.37000515A>C | CA443904347 | NIPBL | c.3447A>C (p.Arg1149=) c.1-64063A>C (n.1-64063A>C) c.2703A>C (p.Arg901=) c.3305-302A>C (n.3305-302A>C) c.3122-302A>C (n.3122-302A>C) c.2787A>C (p.Arg929=) c.1830A>C (p.Arg610=) c.1821A>C (p.Arg607=) | |
| 5 | g.37000515A>G | CA443904350 | NIPBL | c.3447A>G (p.Arg1149=) c.1-64063A>G (n.1-64063A>G) c.2703A>G (p.Arg901=) c.3305-302A>G (n.3305-302A>G) c.3122-302A>G (n.3122-302A>G) c.2787A>G (p.Arg929=) c.1830A>G (p.Arg610=) c.1821A>G (p.Arg607=) | |
| 5 | g.37000515A>T | CA443904351 | NIPBL | c.3447A>T (p.Arg1149=) c.1-64063A>T (n.1-64063A>T) c.2703A>T (p.Arg901=) c.3305-302A>T (n.3305-302A>T) c.3122-302A>T (n.3122-302A>T) c.2787A>T (p.Arg929=) c.1830A>T (p.Arg610=) c.1821A>T (p.Arg607=) | |
| 5 | g.37000516A>C | CA359517902 | NIPBL | c.3448A>C (p.Ser1150Arg) c.1-64062A>C (n.1-64062A>C) c.2704A>C (p.Ser902Arg) c.3305-301A>C (n.3305-301A>C) c.3122-301A>C (n.3122-301A>C) c.2788A>C (p.Ser930Arg) c.1831A>C (p.Ser611Arg) c.1822A>C (p.Ser608Arg) | |
| 5 | g.37000516A>G | CA359517904 | NIPBL | c.3448A>G (p.Ser1150Gly) c.1-64062A>G (n.1-64062A>G) c.2704A>G (p.Ser902Gly) c.3305-301A>G (n.3305-301A>G) c.3122-301A>G (n.3122-301A>G) c.2788A>G (p.Ser930Gly) c.1831A>G (p.Ser611Gly) c.1822A>G (p.Ser608Gly) | |
| 5 | g.37000516A>T | CA359517903 | NIPBL | c.3448A>T (p.Ser1150Cys) c.1-64062A>T (n.1-64062A>T) c.2704A>T (p.Ser902Cys) c.3305-301A>T (n.3305-301A>T) c.3122-301A>T (n.3122-301A>T) c.2788A>T (p.Ser930Cys) c.1831A>T (p.Ser611Cys) c.1822A>T (p.Ser608Cys) | |
| 5 | g.37000517G>A | CA359517905 | NIPBL | c.3449G>A (p.Ser1150Asn) c.1-64061G>A (n.1-64061G>A) c.2705G>A (p.Ser902Asn) c.3305-300G>A (n.3305-300G>A) c.3122-300G>A (n.3122-300G>A) c.2789G>A (p.Ser930Asn) c.1832G>A (p.Ser611Asn) c.1823G>A (p.Ser608Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37000517G>C | CA359517906 | NIPBL | c.3449G>C (p.Ser1150Thr) c.1-64061G>C (n.1-64061G>C) c.2705G>C (p.Ser902Thr) c.3305-300G>C (n.3305-300G>C) c.3122-300G>C (n.3122-300G>C) c.2789G>C (p.Ser930Thr) c.1832G>C (p.Ser611Thr) c.1823G>C (p.Ser608Thr) | |
| 5 | g.37000517G= | CA1539601051 | NIPBL | c.3449G= (p.Ser1150=) c.1-64061G= (n.1-64061G=) c.2705G= (p.Ser902=) c.3305-300G= (n.3305-300G=) c.3122-300G= (n.3122-300G=) c.2789G= (p.Ser930=) c.1832G= (p.Ser611=) c.1823G= (p.Ser608=) | |
| 5 | g.37000517G>T | CA359517907 | NIPBL | c.3449G>T (p.Ser1150Ile) c.1-64061G>T (n.1-64061G>T) c.2705G>T (p.Ser902Ile) c.3305-300G>T (n.3305-300G>T) c.3122-300G>T (n.3122-300G>T) c.2789G>T (p.Ser930Ile) c.1832G>T (p.Ser611Ile) c.1823G>T (p.Ser608Ile) | |
| 5 | g.37000518T>A | CA359517908 | NIPBL | c.3450T>A (p.Ser1150Arg) c.1-64060T>A (n.1-64060T>A) c.2706T>A (p.Ser902Arg) c.3305-299T>A (n.3305-299T>A) c.3122-299T>A (n.3122-299T>A) c.2790T>A (p.Ser930Arg) c.1833T>A (p.Ser611Arg) c.1824T>A (p.Ser608Arg) | |
| 5 | g.37000518T>C | CA443904353 | NIPBL | c.3450T>C (p.Ser1150=) c.1-64060T>C (n.1-64060T>C) c.2706T>C (p.Ser902=) c.3305-299T>C (n.3305-299T>C) c.3122-299T>C (n.3122-299T>C) c.2790T>C (p.Ser930=) c.1833T>C (p.Ser611=) c.1824T>C (p.Ser608=) | dbSNP gnomAD v2 |
| 5 | g.37000518T>G | CA359517909 | NIPBL | c.3450T>G (p.Ser1150Arg) c.1-64060T>G (n.1-64060T>G) c.2706T>G (p.Ser902Arg) c.3305-299T>G (n.3305-299T>G) c.3122-299T>G (n.3122-299T>G) c.2790T>G (p.Ser930Arg) c.1833T>G (p.Ser611Arg) c.1824T>G (p.Ser608Arg) | |
| 5 | g.37000518T= | CA1539601055 | NIPBL | c.3450T= (p.Ser1150=) c.1-64060T= (n.1-64060T=) c.2706T= (p.Ser902=) c.3305-299T= (n.3305-299T=) c.3122-299T= (n.3122-299T=) c.2790T= (p.Ser930=) c.1833T= (p.Ser611=) c.1824T= (p.Ser608=) | |
| 5 | g.37000519C>A | CA359517910 | NIPBL | c.3451C>A (p.Pro1151Thr) c.1-64059C>A (n.1-64059C>A) c.2707C>A (p.Pro903Thr) c.3305-298C>A (n.3305-298C>A) c.3122-298C>A (n.3122-298C>A) c.2791C>A (p.Pro931Thr) c.1834C>A (p.Pro612Thr) c.1825C>A (p.Pro609Thr) | |
| 5 | g.37000519C= | CA1539601060 | NIPBL | c.3451C= (p.Pro1151=) c.1-64059C= (n.1-64059C=) c.2707C= (p.Pro903=) c.3305-298C= (n.3305-298C=) c.3122-298C= (n.3122-298C=) c.2791C= (p.Pro931=) c.1834C= (p.Pro612=) c.1825C= (p.Pro609=) | |
| 5 | g.37000519C>G | CA359517911 | NIPBL | c.3451C>G (p.Pro1151Ala) c.1-64059C>G (n.1-64059C>G) c.2707C>G (p.Pro903Ala) c.3305-298C>G (n.3305-298C>G) c.3122-298C>G (n.3122-298C>G) c.2791C>G (p.Pro931Ala) c.1834C>G (p.Pro612Ala) c.1825C>G (p.Pro609Ala) | gnomAD v4 |
| 5 | g.37000519C>T | CA359517912 | NIPBL | c.3451C>T (p.Pro1151Ser) c.1-64059C>T (n.1-64059C>T) c.2707C>T (p.Pro903Ser) c.3305-298C>T (n.3305-298C>T) c.3122-298C>T (n.3122-298C>T) c.2791C>T (p.Pro931Ser) c.1834C>T (p.Pro612Ser) c.1825C>T (p.Pro609Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.37000520C>A | CA359517913 | NIPBL | c.3452C>A (p.Pro1151Gln) c.1-64058C>A (n.1-64058C>A) c.2708C>A (p.Pro903Gln) c.3305-297C>A (n.3305-297C>A) c.3122-297C>A (n.3122-297C>A) c.2792C>A (p.Pro931Gln) c.1835C>A (p.Pro612Gln) c.1826C>A (p.Pro609Gln) | |
| 5 | g.37000520C= | CA1539601071 | NIPBL | c.3452C= (p.Pro1151=) c.1-64058C= (n.1-64058C=) c.2708C= (p.Pro903=) c.3305-297C= (n.3305-297C=) c.3122-297C= (n.3122-297C=) c.2792C= (p.Pro931=) c.1835C= (p.Pro612=) c.1826C= (p.Pro609=) | |
| 5 | g.37000520C>G | CA359517914 | NIPBL | c.3452C>G (p.Pro1151Arg) c.1-64058C>G (n.1-64058C>G) c.2708C>G (p.Pro903Arg) c.3305-297C>G (n.3305-297C>G) c.3122-297C>G (n.3122-297C>G) c.2792C>G (p.Pro931Arg) c.1835C>G (p.Pro612Arg) c.1826C>G (p.Pro609Arg) | |
| 5 | g.37000520C>T | CA359517915 | NIPBL | c.3452C>T (p.Pro1151Leu) c.1-64058C>T (n.1-64058C>T) c.2708C>T (p.Pro903Leu) c.3305-297C>T (n.3305-297C>T) c.3122-297C>T (n.3122-297C>T) c.2792C>T (p.Pro931Leu) c.1835C>T (p.Pro612Leu) c.1826C>T (p.Pro609Leu) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 5 | g.37000521G>A | CA3236338 | NIPBL | c.3453G>A (p.Pro1151=) c.1-64057G>A (n.1-64057G>A) c.2709G>A (p.Pro903=) c.3305-296G>A (n.3305-296G>A) c.3122-296G>A (n.3122-296G>A) c.2793G>A (p.Pro931=) c.1836G>A (p.Pro612=) c.1827G>A (p.Pro609=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37000521G>C | CA3236339 | NIPBL | c.3453G>C (p.Pro1151=) c.1-64057G>C (n.1-64057G>C) c.2709G>C (p.Pro903=) c.3305-296G>C (n.3305-296G>C) c.3122-296G>C (n.3122-296G>C) c.2793G>C (p.Pro931=) c.1836G>C (p.Pro612=) c.1827G>C (p.Pro609=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37000521G= | CA1539601076 | NIPBL | c.3453G= (p.Pro1151=) c.1-64057G= (n.1-64057G=) c.2709G= (p.Pro903=) c.3305-296G= (n.3305-296G=) c.3122-296G= (n.3122-296G=) c.2793G= (p.Pro931=) c.1836G= (p.Pro612=) c.1827G= (p.Pro609=) | |
| 5 | g.37000521G>T | CA443904355 | NIPBL | c.3453G>T (p.Pro1151=) c.1-64057G>T (n.1-64057G>T) c.2709G>T (p.Pro903=) c.3305-296G>T (n.3305-296G>T) c.3122-296G>T (n.3122-296G>T) c.2793G>T (p.Pro931=) c.1836G>T (p.Pro612=) c.1827G>T (p.Pro609=) | gnomAD v4 |
| 5 | g.37000522T>A | CA359517918 | NIPBL | c.3454T>A (p.Ser1152Thr) c.1-64056T>A (n.1-64056T>A) c.2710T>A (p.Ser904Thr) c.3305-295T>A (n.3305-295T>A) c.3122-295T>A (n.3122-295T>A) c.2794T>A (p.Ser932Thr) c.1837T>A (p.Ser613Thr) c.1828T>A (p.Ser610Thr) | |
| 5 | g.37000522T>C | CA359517916 | NIPBL | c.3454T>C (p.Ser1152Pro) c.1-64056T>C (n.1-64056T>C) c.2710T>C (p.Ser904Pro) c.3305-295T>C (n.3305-295T>C) c.3122-295T>C (n.3122-295T>C) c.2794T>C (p.Ser932Pro) c.1837T>C (p.Ser613Pro) c.1828T>C (p.Ser610Pro) | |
| 5 | g.37000522T>G | CA359517917 | NIPBL | c.3454T>G (p.Ser1152Ala) c.1-64056T>G (n.1-64056T>G) c.2710T>G (p.Ser904Ala) c.3305-295T>G (n.3305-295T>G) c.3122-295T>G (n.3122-295T>G) c.2794T>G (p.Ser932Ala) c.1837T>G (p.Ser613Ala) c.1828T>G (p.Ser610Ala) | |
| 5 | g.37000523C>A | CA359517919 | NIPBL | c.3455C>A (p.Ser1152Ter) c.1-64055C>A (n.1-64055C>A) c.2711C>A (p.Ser904Ter) c.3305-294C>A (n.3305-294C>A) c.3122-294C>A (n.3122-294C>A) c.2795C>A (p.Ser932Ter) c.1838C>A (p.Ser613Ter) c.1829C>A (p.Ser610Ter) | |
| 5 | g.37000523C= | CA1539601088 | NIPBL | c.3455C= (p.Ser1152=) c.1-64055C= (n.1-64055C=) c.2711C= (p.Ser904=) c.3305-294C= (n.3305-294C=) c.3122-294C= (n.3122-294C=) c.2795C= (p.Ser932=) c.1838C= (p.Ser613=) c.1829C= (p.Ser610=) | |
| 5 | g.37000523C>G | CA359517920 | NIPBL | c.3455C>G (p.Ser1152Ter) c.1-64055C>G (n.1-64055C>G) c.2711C>G (p.Ser904Ter) c.3305-294C>G (n.3305-294C>G) c.3122-294C>G (n.3122-294C>G) c.2795C>G (p.Ser932Ter) c.1838C>G (p.Ser613Ter) c.1829C>G (p.Ser610Ter) | ClinVar dbSNP |
| 5 | g.37000523C>T | CA359517921 | NIPBL | c.3455C>T (p.Ser1152Leu) c.1-64055C>T (n.1-64055C>T) c.2711C>T (p.Ser904Leu) c.3305-294C>T (n.3305-294C>T) c.3122-294C>T (n.3122-294C>T) c.2795C>T (p.Ser932Leu) c.1838C>T (p.Ser613Leu) c.1829C>T (p.Ser610Leu) | |
| 5 | g.37000524A>C | CA443904358 | NIPBL | c.3456A>C (p.Ser1152=) c.1-64054A>C (n.1-64054A>C) c.2712A>C (p.Ser904=) c.3305-293A>C (n.3305-293A>C) c.3122-293A>C (n.3122-293A>C) c.2796A>C (p.Ser932=) c.1839A>C (p.Ser613=) c.1830A>C (p.Ser610=) | |
| 5 | g.37000524A>G | CA443904359 | NIPBL | c.3456A>G (p.Ser1152=) c.1-64054A>G (n.1-64054A>G) c.2712A>G (p.Ser904=) c.3305-293A>G (n.3305-293A>G) c.3122-293A>G (n.3122-293A>G) c.2796A>G (p.Ser932=) c.1839A>G (p.Ser613=) c.1830A>G (p.Ser610=) | gnomAD v4 |
| 5 | g.37000524A>T | CA443904361 | NIPBL | c.3456A>T (p.Ser1152=) c.1-64054A>T (n.1-64054A>T) c.2712A>T (p.Ser904=) c.3305-293A>T (n.3305-293A>T) c.3122-293A>T (n.3122-293A>T) c.2796A>T (p.Ser932=) c.1839A>T (p.Ser613=) c.1830A>T (p.Ser610=) | |
| 5 | g.37000525G>A | CA359517922 | NIPBL | c.3457G>A (p.Asp1153Asn) c.1-64053G>A (n.1-64053G>A) c.2713G>A (p.Asp905Asn) c.3305-292G>A (n.3305-292G>A) c.3122-292G>A (n.3122-292G>A) c.2797G>A (p.Asp933Asn) c.1840G>A (p.Asp614Asn) c.1831G>A (p.Asp611Asn) | |
| 5 | g.37000525G>C | CA359517923 | NIPBL | c.3457G>C (p.Asp1153His) c.1-64053G>C (n.1-64053G>C) c.2713G>C (p.Asp905His) c.3305-292G>C (n.3305-292G>C) c.3122-292G>C (n.3122-292G>C) c.2797G>C (p.Asp933His) c.1840G>C (p.Asp614His) c.1831G>C (p.Asp611His) | |
| 5 | g.37000525G>T | CA359517924 | NIPBL | c.3457G>T (p.Asp1153Tyr) c.1-64053G>T (n.1-64053G>T) c.2713G>T (p.Asp905Tyr) c.3305-292G>T (n.3305-292G>T) c.3122-292G>T (n.3122-292G>T) c.2797G>T (p.Asp933Tyr) c.1840G>T (p.Asp614Tyr) c.1831G>T (p.Asp611Tyr) | |
| 5 | g.37000526A>C | CA359517925 | NIPBL | c.3458A>C (p.Asp1153Ala) c.1-64052A>C (n.1-64052A>C) c.2714A>C (p.Asp905Ala) c.3305-291A>C (n.3305-291A>C) c.3122-291A>C (n.3122-291A>C) c.2798A>C (p.Asp933Ala) c.1841A>C (p.Asp614Ala) c.1832A>C (p.Asp611Ala) | |
| 5 | g.37000526A>G | CA359517926 | NIPBL | c.3458A>G (p.Asp1153Gly) c.1-64052A>G (n.1-64052A>G) c.2714A>G (p.Asp905Gly) c.3305-291A>G (n.3305-291A>G) c.3122-291A>G (n.3122-291A>G) c.2798A>G (p.Asp933Gly) c.1841A>G (p.Asp614Gly) c.1832A>G (p.Asp611Gly) | |
| 5 | g.37000526A>T | CA359517927 | NIPBL | c.3458A>T (p.Asp1153Val) c.1-64052A>T (n.1-64052A>T) c.2714A>T (p.Asp905Val) c.3305-291A>T (n.3305-291A>T) c.3122-291A>T (n.3122-291A>T) c.2798A>T (p.Asp933Val) c.1841A>T (p.Asp614Val) c.1832A>T (p.Asp611Val) | |
| 5 | g.37000527T>A | CA359517928 | NIPBL | c.3459T>A (p.Asp1153Glu) c.1-64051T>A (n.1-64051T>A) c.2715T>A (p.Asp905Glu) c.3305-290T>A (n.3305-290T>A) c.3122-290T>A (n.3122-290T>A) c.2799T>A (p.Asp933Glu) c.1842T>A (p.Asp614Glu) c.1833T>A (p.Asp611Glu) | |
| 5 | g.37000527T>C | CA443904364 | NIPBL | c.3459T>C (p.Asp1153=) c.1-64051T>C (n.1-64051T>C) c.2715T>C (p.Asp905=) c.3305-290T>C (n.3305-290T>C) c.3122-290T>C (n.3122-290T>C) c.2799T>C (p.Asp933=) c.1842T>C (p.Asp614=) c.1833T>C (p.Asp611=) | gnomAD v4 |
| 5 | g.37000527T>G | CA359517929 | NIPBL | c.3459T>G (p.Asp1153Glu) c.1-64051T>G (n.1-64051T>G) c.2715T>G (p.Asp905Glu) c.3305-290T>G (n.3305-290T>G) c.3122-290T>G (n.3122-290T>G) c.2799T>G (p.Asp933Glu) c.1842T>G (p.Asp614Glu) c.1833T>G (p.Asp611Glu) | ClinVar dbSNP |
| 5 | g.37000527T= | CA1539601100 | NIPBL | c.3459T= (p.Asp1153=) c.1-64051T= (n.1-64051T=) c.2715T= (p.Asp905=) c.3305-290T= (n.3305-290T=) c.3122-290T= (n.3122-290T=) c.2799T= (p.Asp933=) c.1842T= (p.Asp614=) c.1833T= (p.Asp611=) | |
| 5 | g.37000527_37000529delinsTTC | CA1539601095 | NIPBL | c.3459_3461delinsTTC (p.Asp1153=) c.1-64051_1-64049delinsTTC (n.1-64051_1-64049delinsTTC) c.2715_2717delinsTTC (p.Asp905=) c.3305-290_3305-288delinsTTC (n.3305-290_3305-288delinsTTC) c.3122-290_3122-288delinsTTC (n.3122-290_3122-288delinsTTC) c.2799_2801delinsTTC (p.Asp933=) c.1842_1844delinsTTC (p.Asp614=) c.1833_1835delinsTTC (p.Asp611=) | |
| 5 | g.37000528T>A | CA359517931 | NIPBL | c.3460T>A (p.Ser1154Thr) c.1-64050T>A (n.1-64050T>A) c.2716T>A (p.Ser906Thr) c.3305-289T>A (n.3305-289T>A) c.3122-289T>A (n.3122-289T>A) c.2800T>A (p.Ser934Thr) c.1843T>A (p.Ser615Thr) c.1834T>A (p.Ser612Thr) | |
| 5 | g.37000528T>C | CA359517930 | NIPBL | c.3460T>C (p.Ser1154Pro) c.1-64050T>C (n.1-64050T>C) c.2716T>C (p.Ser906Pro) c.3305-289T>C (n.3305-289T>C) c.3122-289T>C (n.3122-289T>C) c.2800T>C (p.Ser934Pro) c.1843T>C (p.Ser615Pro) c.1834T>C (p.Ser612Pro) | |
| 5 | g.37000528T>G | CA359517932 | NIPBL | c.3460T>G (p.Ser1154Ala) c.1-64050T>G (n.1-64050T>G) c.2716T>G (p.Ser906Ala) c.3305-289T>G (n.3305-289T>G) c.3122-289T>G (n.3122-289T>G) c.2800T>G (p.Ser934Ala) c.1843T>G (p.Ser615Ala) c.1834T>G (p.Ser612Ala) | |
| 5 | g.37000529_37000530del | CA272068 | NIPBL | c.3461_3462del (p.Ser1154Ter) c.1-64049_1-64048del (n.1-64049_1-64048del) c.2717_2718del (p.Ser906Ter) c.3305-288_3305-287del (n.3305-288_3305-287del) c.3122-288_3122-287del (n.3122-288_3122-287del) c.2801_2802del (p.Ser934Ter) c.1844_1845del (p.Ser615Ter) c.1835_1836del (p.Ser612Ter) | ClinVar dbSNP |
| 5 | g.37000529C>A | CA359517933 | NIPBL | c.3461C>A (p.Ser1154Tyr) c.1-64049C>A (n.1-64049C>A) c.2717C>A (p.Ser906Tyr) c.3305-288C>A (n.3305-288C>A) c.3122-288C>A (n.3122-288C>A) c.2801C>A (p.Ser934Tyr) c.1844C>A (p.Ser615Tyr) c.1835C>A (p.Ser612Tyr) | |
| 5 | g.37000529C>G | CA359517934 | NIPBL | c.3461C>G (p.Ser1154Cys) c.1-64049C>G (n.1-64049C>G) c.2717C>G (p.Ser906Cys) c.3305-288C>G (n.3305-288C>G) c.3122-288C>G (n.3122-288C>G) c.2801C>G (p.Ser934Cys) c.1844C>G (p.Ser615Cys) c.1835C>G (p.Ser612Cys) | |
| 5 | g.37000529C>T | CA359517935 | NIPBL | c.3461C>T (p.Ser1154Phe) c.1-64049C>T (n.1-64049C>T) c.2717C>T (p.Ser906Phe) c.3305-288C>T (n.3305-288C>T) c.3122-288C>T (n.3122-288C>T) c.2801C>T (p.Ser934Phe) c.1844C>T (p.Ser615Phe) c.1835C>T (p.Ser612Phe) | |
| 5 | g.37000530T>A | CA443904368 | NIPBL | c.3462T>A (p.Ser1154=) c.1-64048T>A (n.1-64048T>A) c.2718T>A (p.Ser906=) c.3305-287T>A (n.3305-287T>A) c.3122-287T>A (n.3122-287T>A) c.2802T>A (p.Ser934=) c.1845T>A (p.Ser615=) c.1836T>A (p.Ser612=) | |
| 5 | g.37000530T>C | CA443904369 | NIPBL | c.3462T>C (p.Ser1154=) c.1-64048T>C (n.1-64048T>C) c.2718T>C (p.Ser906=) c.3305-287T>C (n.3305-287T>C) c.3122-287T>C (n.3122-287T>C) c.2802T>C (p.Ser934=) c.1845T>C (p.Ser615=) c.1836T>C (p.Ser612=) | |
| 5 | g.37000530T>G | CA443904370 | NIPBL | c.3462T>G (p.Ser1154=) c.1-64048T>G (n.1-64048T>G) c.2718T>G (p.Ser906=) c.3305-287T>G (n.3305-287T>G) c.3122-287T>G (n.3122-287T>G) c.2802T>G (p.Ser934=) c.1845T>G (p.Ser615=) c.1836T>G (p.Ser612=) | |
| 5 | g.37000531G>A | CA359517936 | NIPBL | c.3463G>A (p.Asp1155Asn) c.1-64047G>A (n.1-64047G>A) c.2719G>A (p.Asp907Asn) c.3305-286G>A (n.3305-286G>A) c.3122-286G>A (n.3122-286G>A) c.2803G>A (p.Asp935Asn) c.1846G>A (p.Asp616Asn) c.1837G>A (p.Asp613Asn) | |
| 5 | g.37000531G>C | CA359517937 | NIPBL | c.3463G>C (p.Asp1155His) c.1-64047G>C (n.1-64047G>C) c.2719G>C (p.Asp907His) c.3305-286G>C (n.3305-286G>C) c.3122-286G>C (n.3122-286G>C) c.2803G>C (p.Asp935His) c.1846G>C (p.Asp616His) c.1837G>C (p.Asp613His) | |
| 5 | g.37000531G>T | CA359517938 | NIPBL | c.3463G>T (p.Asp1155Tyr) c.1-64047G>T (n.1-64047G>T) c.2719G>T (p.Asp907Tyr) c.3305-286G>T (n.3305-286G>T) c.3122-286G>T (n.3122-286G>T) c.2803G>T (p.Asp935Tyr) c.1846G>T (p.Asp616Tyr) c.1837G>T (p.Asp613Tyr) | gnomAD v4 |
| 5 | g.37000532A= | CA1539601108 | NIPBL | c.3464A= (p.Asp1155=) c.1-64046A= (n.1-64046A=) c.2720A= (p.Asp907=) c.3305-285A= (n.3305-285A=) c.3122-285A= (n.3122-285A=) c.2804A= (p.Asp935=) c.1847A= (p.Asp616=) c.1838A= (p.Asp613=) | |
| 5 | g.37000532A>C | CA359517939 | NIPBL | c.3464A>C (p.Asp1155Ala) c.1-64046A>C (n.1-64046A>C) c.2720A>C (p.Asp907Ala) c.3305-285A>C (n.3305-285A>C) c.3122-285A>C (n.3122-285A>C) c.2804A>C (p.Asp935Ala) c.1847A>C (p.Asp616Ala) c.1838A>C (p.Asp613Ala) | |
| 5 | g.37000532A>G | CA359517940 | NIPBL | c.3464A>G (p.Asp1155Gly) c.1-64046A>G (n.1-64046A>G) c.2720A>G (p.Asp907Gly) c.3305-285A>G (n.3305-285A>G) c.3122-285A>G (n.3122-285A>G) c.2804A>G (p.Asp935Gly) c.1847A>G (p.Asp616Gly) c.1838A>G (p.Asp613Gly) | dbSNP |
| 5 | g.37000532A>T | CA359517941 | NIPBL | c.3464A>T (p.Asp1155Val) c.1-64046A>T (n.1-64046A>T) c.2720A>T (p.Asp907Val) c.3305-285A>T (n.3305-285A>T) c.3122-285A>T (n.3122-285A>T) c.2804A>T (p.Asp935Val) c.1847A>T (p.Asp616Val) c.1838A>T (p.Asp613Val) | |
| 5 | g.37000533C>A | CA359517942 | NIPBL | c.3465C>A (p.Asp1155Glu) c.1-64045C>A (n.1-64045C>A) c.2721C>A (p.Asp907Glu) c.3305-284C>A (n.3305-284C>A) c.3122-284C>A (n.3122-284C>A) c.2805C>A (p.Asp935Glu) c.1848C>A (p.Asp616Glu) c.1839C>A (p.Asp613Glu) | |
| 5 | g.37000533C= | CA1539601112 | NIPBL | c.3465C= (p.Asp1155=) c.1-64045C= (n.1-64045C=) c.2721C= (p.Asp907=) c.3305-284C= (n.3305-284C=) c.3122-284C= (n.3122-284C=) c.2805C= (p.Asp935=) c.1848C= (p.Asp616=) c.1839C= (p.Asp613=) | |
| 5 | g.37000533C>G | CA359517943 | NIPBL | c.3465C>G (p.Asp1155Glu) c.1-64045C>G (n.1-64045C>G) c.2721C>G (p.Asp907Glu) c.3305-284C>G (n.3305-284C>G) c.3122-284C>G (n.3122-284C>G) c.2805C>G (p.Asp935Glu) c.1848C>G (p.Asp616Glu) c.1839C>G (p.Asp613Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37000533C>T | CA443904374 | NIPBL | c.3465C>T (p.Asp1155=) c.1-64045C>T (n.1-64045C>T) c.2721C>T (p.Asp907=) c.3305-284C>T (n.3305-284C>T) c.3122-284C>T (n.3122-284C>T) c.2805C>T (p.Asp935=) c.1848C>T (p.Asp616=) c.1839C>T (p.Asp613=) | COSMIC COSMIC |
| 5 | g.37000534A= | CA1539601118 | NIPBL | c.3466A= (p.Met1156=) c.1-64044A= (n.1-64044A=) c.2722A= (p.Met908=) c.3305-283A= (n.3305-283A=) c.3122-283A= (n.3122-283A=) c.2806A= (p.Met936=) c.1849A= (p.Met617=) c.1840A= (p.Met614=) | |
| 5 | g.37000534A>C | CA359517945 | NIPBL | c.3466A>C (p.Met1156Leu) c.1-64044A>C (n.1-64044A>C) c.2722A>C (p.Met908Leu) c.3305-283A>C (n.3305-283A>C) c.3122-283A>C (n.3122-283A>C) c.2806A>C (p.Met936Leu) c.1849A>C (p.Met617Leu) c.1840A>C (p.Met614Leu) | |
| 5 | g.37000534A>G | CA3236340 | NIPBL | c.3466A>G (p.Met1156Val) c.1-64044A>G (n.1-64044A>G) c.2722A>G (p.Met908Val) c.3305-283A>G (n.3305-283A>G) c.3122-283A>G (n.3122-283A>G) c.2806A>G (p.Met936Val) c.1849A>G (p.Met617Val) c.1840A>G (p.Met614Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37000534A>T | CA359517944 | NIPBL | c.3466A>T (p.Met1156Leu) c.1-64044A>T (n.1-64044A>T) c.2722A>T (p.Met908Leu) c.3305-283A>T (n.3305-283A>T) c.3122-283A>T (n.3122-283A>T) c.2806A>T (p.Met936Leu) c.1849A>T (p.Met617Leu) c.1840A>T (p.Met614Leu) | |
| 5 | g.37000535T>A | CA359517946 | NIPBL | c.3467T>A (p.Met1156Lys) c.1-64043T>A (n.1-64043T>A) c.2723T>A (p.Met908Lys) c.3305-282T>A (n.3305-282T>A) c.3122-282T>A (n.3122-282T>A) c.2807T>A (p.Met936Lys) c.1850T>A (p.Met617Lys) c.1841T>A (p.Met614Lys) | |
| 5 | g.37000535T>C | CA117056162 | NIPBL | c.3467T>C (p.Met1156Thr) c.1-64043T>C (n.1-64043T>C) c.2723T>C (p.Met908Thr) c.3305-282T>C (n.3305-282T>C) c.3122-282T>C (n.3122-282T>C) c.2807T>C (p.Met936Thr) c.1850T>C (p.Met617Thr) c.1841T>C (p.Met614Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37000535T>G | CA359517947 | NIPBL | c.3467T>G (p.Met1156Arg) c.1-64043T>G (n.1-64043T>G) c.2723T>G (p.Met908Arg) c.3305-282T>G (n.3305-282T>G) c.3122-282T>G (n.3122-282T>G) c.2807T>G (p.Met936Arg) c.1850T>G (p.Met617Arg) c.1841T>G (p.Met614Arg) | |
| 5 | g.37000535T= | CA1539601123 | NIPBL | c.3467T= (p.Met1156=) c.1-64043T= (n.1-64043T=) c.2723T= (p.Met908=) c.3305-282T= (n.3305-282T=) c.3122-282T= (n.3122-282T=) c.2807T= (p.Met936=) c.1850T= (p.Met617=) c.1841T= (p.Met614=) | |
| 5 | g.37000536G>A | CA359517948 | NIPBL | c.3468G>A (p.Met1156Ile) c.1-64042G>A (n.1-64042G>A) c.2724G>A (p.Met908Ile) c.3305-281G>A (n.3305-281G>A) c.3122-281G>A (n.3122-281G>A) c.2808G>A (p.Met936Ile) c.1851G>A (p.Met617Ile) c.1842G>A (p.Met614Ile) | dbSNP gnomAD v4 |
| 5 | g.37000536G>C | CA359517949 | NIPBL | c.3468G>C (p.Met1156Ile) c.1-64042G>C (n.1-64042G>C) c.2724G>C (p.Met908Ile) c.3305-281G>C (n.3305-281G>C) c.3122-281G>C (n.3122-281G>C) c.2808G>C (p.Met936Ile) c.1851G>C (p.Met617Ile) c.1842G>C (p.Met614Ile) | |
| 5 | g.37000536G= | CA1539601127 | NIPBL | c.3468G= (p.Met1156=) c.1-64042G= (n.1-64042G=) c.2724G= (p.Met908=) c.3305-281G= (n.3305-281G=) c.3122-281G= (n.3122-281G=) c.2808G= (p.Met936=) c.1851G= (p.Met617=) c.1842G= (p.Met614=) | |
| 5 | g.37000536G>T | CA359517950 | NIPBL | c.3468G>T (p.Met1156Ile) c.1-64042G>T (n.1-64042G>T) c.2724G>T (p.Met908Ile) c.3305-281G>T (n.3305-281G>T) c.3122-281G>T (n.3122-281G>T) c.2808G>T (p.Met936Ile) c.1851G>T (p.Met617Ile) c.1842G>T (p.Met614Ile) | |
| 5 | g.37000537G>A | CA359517951 | NIPBL | c.3469G>A (p.Glu1157Lys) c.1-64041G>A (n.1-64041G>A) c.2725G>A (p.Glu909Lys) c.3305-280G>A (n.3305-280G>A) c.3122-280G>A (n.3122-280G>A) c.2809G>A (p.Glu937Lys) c.1852G>A (p.Glu618Lys) c.1843G>A (p.Glu615Lys) | |
| 5 | g.37000537G>C | CA359517953 | NIPBL | c.3469G>C (p.Glu1157Gln) c.1-64041G>C (n.1-64041G>C) c.2725G>C (p.Glu909Gln) c.3305-280G>C (n.3305-280G>C) c.3122-280G>C (n.3122-280G>C) c.2809G>C (p.Glu937Gln) c.1852G>C (p.Glu618Gln) c.1843G>C (p.Glu615Gln) | |
| 5 | g.37000537G>T | CA359517952 | NIPBL | c.3469G>T (p.Glu1157Ter) c.1-64041G>T (n.1-64041G>T) c.2725G>T (p.Glu909Ter) c.3305-280G>T (n.3305-280G>T) c.3122-280G>T (n.3122-280G>T) c.2809G>T (p.Glu937Ter) c.1852G>T (p.Glu618Ter) c.1843G>T (p.Glu615Ter) | |
| 5 | g.37000538A>C | CA359517954 | NIPBL | c.3470A>C (p.Glu1157Ala) c.1-64040A>C (n.1-64040A>C) c.2726A>C (p.Glu909Ala) c.3305-279A>C (n.3305-279A>C) c.3122-279A>C (n.3122-279A>C) c.2810A>C (p.Glu937Ala) c.1853A>C (p.Glu618Ala) c.1844A>C (p.Glu615Ala) | |
| 5 | g.37000538A>G | CA359517955 | NIPBL | c.3470A>G (p.Glu1157Gly) c.1-64040A>G (n.1-64040A>G) c.2726A>G (p.Glu909Gly) c.3305-279A>G (n.3305-279A>G) c.3122-279A>G (n.3122-279A>G) c.2810A>G (p.Glu937Gly) c.1853A>G (p.Glu618Gly) c.1844A>G (p.Glu615Gly) | |
| 5 | g.37000538A>T | CA359517956 | NIPBL | c.3470A>T (p.Glu1157Val) c.1-64040A>T (n.1-64040A>T) c.2726A>T (p.Glu909Val) c.3305-279A>T (n.3305-279A>T) c.3122-279A>T (n.3122-279A>T) c.2810A>T (p.Glu937Val) c.1853A>T (p.Glu618Val) c.1844A>T (p.Glu615Val) | |
| 5 | g.37000539A>C | CA359517957 | NIPBL | c.3471A>C (p.Glu1157Asp) c.1-64039A>C (n.1-64039A>C) c.2727A>C (p.Glu909Asp) c.3305-278A>C (n.3305-278A>C) c.3122-278A>C (n.3122-278A>C) c.2811A>C (p.Glu937Asp) c.1854A>C (p.Glu618Asp) c.1845A>C (p.Glu615Asp) | |
| 5 | g.37000539A>G | CA443904378 | NIPBL | c.3471A>G (p.Glu1157=) c.1-64039A>G (n.1-64039A>G) c.2727A>G (p.Glu909=) c.3305-278A>G (n.3305-278A>G) c.3122-278A>G (n.3122-278A>G) c.2811A>G (p.Glu937=) c.1854A>G (p.Glu618=) c.1845A>G (p.Glu615=) | |
| 5 | g.37000539A>T | CA359517958 | NIPBL | c.3471A>T (p.Glu1157Asp) c.1-64039A>T (n.1-64039A>T) c.2727A>T (p.Glu909Asp) c.3305-278A>T (n.3305-278A>T) c.3122-278A>T (n.3122-278A>T) c.2811A>T (p.Glu937Asp) c.1854A>T (p.Glu618Asp) c.1845A>T (p.Glu615Asp) | |
| 5 | g.37000540G>A | CA359517961 | NIPBL | c.3472G>A (p.Asp1158Asn) c.1-64038G>A (n.1-64038G>A) c.2728G>A (p.Asp910Asn) c.3305-277G>A (n.3305-277G>A) c.3122-277G>A (n.3122-277G>A) c.2812G>A (p.Asp938Asn) c.1855G>A (p.Asp619Asn) c.1846G>A (p.Asp616Asn) | gnomAD v4 |
| 5 | g.37000540G>C | CA359517960 | NIPBL | c.3472G>C (p.Asp1158His) c.1-64038G>C (n.1-64038G>C) c.2728G>C (p.Asp910His) c.3305-277G>C (n.3305-277G>C) c.3122-277G>C (n.3122-277G>C) c.2812G>C (p.Asp938His) c.1855G>C (p.Asp619His) c.1846G>C (p.Asp616His) | COSMIC COSMIC |
| 5 | g.37000540G>T | CA359517959 | NIPBL | c.3472G>T (p.Asp1158Tyr) c.1-64038G>T (n.1-64038G>T) c.2728G>T (p.Asp910Tyr) c.3305-277G>T (n.3305-277G>T) c.3122-277G>T (n.3122-277G>T) c.2812G>T (p.Asp938Tyr) c.1855G>T (p.Asp619Tyr) c.1846G>T (p.Asp616Tyr) | |
| 5 | g.37000541A>C | CA359517963 | NIPBL | c.3473A>C (p.Asp1158Ala) c.1-64037A>C (n.1-64037A>C) c.2729A>C (p.Asp910Ala) c.3305-276A>C (n.3305-276A>C) c.3122-276A>C (n.3122-276A>C) c.2813A>C (p.Asp938Ala) c.1856A>C (p.Asp619Ala) c.1847A>C (p.Asp616Ala) | |
| 5 | g.37000541A>G | CA359517962 | NIPBL | c.3473A>G (p.Asp1158Gly) c.1-64037A>G (n.1-64037A>G) c.2729A>G (p.Asp910Gly) c.3305-276A>G (n.3305-276A>G) c.3122-276A>G (n.3122-276A>G) c.2813A>G (p.Asp938Gly) c.1856A>G (p.Asp619Gly) c.1847A>G (p.Asp616Gly) | |
| 5 | g.37000541A>T | CA359517964 | NIPBL | c.3473A>T (p.Asp1158Val) c.1-64037A>T (n.1-64037A>T) c.2729A>T (p.Asp910Val) c.3305-276A>T (n.3305-276A>T) c.3122-276A>T (n.3122-276A>T) c.2813A>T (p.Asp938Val) c.1856A>T (p.Asp619Val) c.1847A>T (p.Asp616Val) | |
| 5 | g.37000542T>A | CA359517965 | NIPBL | c.3474T>A (p.Asp1158Glu) c.1-64036T>A (n.1-64036T>A) c.2730T>A (p.Asp910Glu) c.3305-275T>A (n.3305-275T>A) c.3122-275T>A (n.3122-275T>A) c.2814T>A (p.Asp938Glu) c.1857T>A (p.Asp619Glu) c.1848T>A (p.Asp616Glu) | |
| 5 | g.37000542T>C | CA443904381 | NIPBL | c.3474T>C (p.Asp1158=) c.1-64036T>C (n.1-64036T>C) c.2730T>C (p.Asp910=) c.3305-275T>C (n.3305-275T>C) c.3122-275T>C (n.3122-275T>C) c.2814T>C (p.Asp938=) c.1857T>C (p.Asp619=) c.1848T>C (p.Asp616=) | |
| 5 | g.37000542T>G | CA359517966 | NIPBL | c.3474T>G (p.Asp1158Glu) c.1-64036T>G (n.1-64036T>G) c.2730T>G (p.Asp910Glu) c.3305-275T>G (n.3305-275T>G) c.3122-275T>G (n.3122-275T>G) c.2814T>G (p.Asp938Glu) c.1857T>G (p.Asp619Glu) c.1848T>G (p.Asp616Glu) | |
| 5 | g.37000543T>A | CA359517967 | NIPBL | c.3475T>A (p.Tyr1159Asn) c.1-64035T>A (n.1-64035T>A) c.2731T>A (p.Tyr911Asn) c.3305-274T>A (n.3305-274T>A) c.3122-274T>A (n.3122-274T>A) c.2815T>A (p.Tyr939Asn) c.1858T>A (p.Tyr620Asn) c.1849T>A (p.Tyr617Asn) | |
| 5 | g.37000543T>C | CA359517968 | NIPBL | c.3475T>C (p.Tyr1159His) c.1-64035T>C (n.1-64035T>C) c.2731T>C (p.Tyr911His) c.3305-274T>C (n.3305-274T>C) c.3122-274T>C (n.3122-274T>C) c.2815T>C (p.Tyr939His) c.1858T>C (p.Tyr620His) c.1849T>C (p.Tyr617His) | |
| 5 | g.37000543T>G | CA3236341 | NIPBL | c.3475T>G (p.Tyr1159Asp) c.1-64035T>G (n.1-64035T>G) c.2731T>G (p.Tyr911Asp) c.3305-274T>G (n.3305-274T>G) c.3122-274T>G (n.3122-274T>G) c.2815T>G (p.Tyr939Asp) c.1858T>G (p.Tyr620Asp) c.1849T>G (p.Tyr617Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37000543T= | CA1539601130 | NIPBL | c.3475T= (p.Tyr1159=) c.1-64035T= (n.1-64035T=) c.2731T= (p.Tyr911=) c.3305-274T= (n.3305-274T=) c.3122-274T= (n.3122-274T=) c.2815T= (p.Tyr939=) c.1858T= (p.Tyr620=) c.1849T= (p.Tyr617=) | |
| 5 | g.37000544A>C | CA359517969 | NIPBL | c.3476A>C (p.Tyr1159Ser) c.1-64034A>C (n.1-64034A>C) c.2732A>C (p.Tyr911Ser) c.3305-273A>C (n.3305-273A>C) c.3122-273A>C (n.3122-273A>C) c.2816A>C (p.Tyr939Ser) c.1859A>C (p.Tyr620Ser) c.1850A>C (p.Tyr617Ser) | |
| 5 | g.37000544A>G | CA359517970 | NIPBL | c.3476A>G (p.Tyr1159Cys) c.1-64034A>G (n.1-64034A>G) c.2732A>G (p.Tyr911Cys) c.3305-273A>G (n.3305-273A>G) c.3122-273A>G (n.3122-273A>G) c.2816A>G (p.Tyr939Cys) c.1859A>G (p.Tyr620Cys) c.1850A>G (p.Tyr617Cys) | gnomAD v4 |
| 5 | g.37000544A>T | CA359517971 | NIPBL | c.3476A>T (p.Tyr1159Phe) c.1-64034A>T (n.1-64034A>T) c.2732A>T (p.Tyr911Phe) c.3305-273A>T (n.3305-273A>T) c.3122-273A>T (n.3122-273A>T) c.2816A>T (p.Tyr939Phe) c.1859A>T (p.Tyr620Phe) c.1850A>T (p.Tyr617Phe) | |
| 5 | g.37000545T>A | CA359517972 | NIPBL | c.3477T>A (p.Tyr1159Ter) c.1-64033T>A (n.1-64033T>A) c.2733T>A (p.Tyr911Ter) c.3305-272T>A (n.3305-272T>A) c.3122-272T>A (n.3122-272T>A) c.2817T>A (p.Tyr939Ter) c.1860T>A (p.Tyr620Ter) c.1851T>A (p.Tyr617Ter) | |
| 5 | g.37000545T>C | CA443904385 | NIPBL | c.3477T>C (p.Tyr1159=) c.1-64033T>C (n.1-64033T>C) c.2733T>C (p.Tyr911=) c.3305-272T>C (n.3305-272T>C) c.3122-272T>C (n.3122-272T>C) c.2817T>C (p.Tyr939=) c.1860T>C (p.Tyr620=) c.1851T>C (p.Tyr617=) | |
| 5 | g.37000545T>G | CA359517973 | NIPBL | c.3477T>G (p.Tyr1159Ter) c.1-64033T>G (n.1-64033T>G) c.2733T>G (p.Tyr911Ter) c.3305-272T>G (n.3305-272T>G) c.3122-272T>G (n.3122-272T>G) c.2817T>G (p.Tyr939Ter) c.1860T>G (p.Tyr620Ter) c.1851T>G (p.Tyr617Ter) | |
| 5 | g.37000546T>A | CA359517974 | NIPBL | c.3478T>A (p.Ser1160Thr) c.1-64032T>A (n.1-64032T>A) c.2734T>A (p.Ser912Thr) c.3305-271T>A (n.3305-271T>A) c.3122-271T>A (n.3122-271T>A) c.2818T>A (p.Ser940Thr) c.1861T>A (p.Ser621Thr) c.1852T>A (p.Ser618Thr) | |
| 5 | g.37000546T>C | CA359517976 | NIPBL | c.3478T>C (p.Ser1160Pro) c.1-64032T>C (n.1-64032T>C) c.2734T>C (p.Ser912Pro) c.3305-271T>C (n.3305-271T>C) c.3122-271T>C (n.3122-271T>C) c.2818T>C (p.Ser940Pro) c.1861T>C (p.Ser621Pro) c.1852T>C (p.Ser618Pro) | |
| 5 | g.37000546T>G | CA359517977 | NIPBL | c.3478T>G (p.Ser1160Ala) c.1-64032T>G (n.1-64032T>G) c.2734T>G (p.Ser912Ala) c.3305-271T>G (n.3305-271T>G) c.3122-271T>G (n.3122-271T>G) c.2818T>G (p.Ser940Ala) c.1861T>G (p.Ser621Ala) c.1852T>G (p.Ser618Ala) | |
| 5 | g.37000546_37000549delinsTCTC | CA1539601131 | NIPBL | c.3478_3481delinsTCTC (p.Ser1160=) c.1-64032_1-64029delinsTCTC (n.1-64032_1-64029delinsTCTC) c.2734_2737delinsTCTC (p.Ser912=) c.3305-271_3305-268delinsTCTC (n.3305-271_3305-268delinsTCTC) c.3122-271_3122-268delinsTCTC (n.3122-271_3122-268delinsTCTC) c.2818_2821delinsTCTC (p.Ser940=) c.1861_1864delinsTCTC (p.Ser621=) c.1852_1855delinsTCTC (p.Ser618=) | |
| 5 | g.37000547C>A | CA359517978 | NIPBL | c.3479C>A (p.Ser1160Tyr) c.1-64031C>A (n.1-64031C>A) c.2735C>A (p.Ser912Tyr) c.3305-270C>A (n.3305-270C>A) c.3122-270C>A (n.3122-270C>A) c.2819C>A (p.Ser940Tyr) c.1862C>A (p.Ser621Tyr) c.1853C>A (p.Ser618Tyr) | |
| 5 | g.37000547C>G | CA359517979 | NIPBL | c.3479C>G (p.Ser1160Cys) c.1-64031C>G (n.1-64031C>G) c.2735C>G (p.Ser912Cys) c.3305-270C>G (n.3305-270C>G) c.3122-270C>G (n.3122-270C>G) c.2819C>G (p.Ser940Cys) c.1862C>G (p.Ser621Cys) c.1853C>G (p.Ser618Cys) | |
| 5 | g.37000547C>T | CA359517980 | NIPBL | c.3479C>T (p.Ser1160Phe) c.1-64031C>T (n.1-64031C>T) c.2735C>T (p.Ser912Phe) c.3305-270C>T (n.3305-270C>T) c.3122-270C>T (n.3122-270C>T) c.2819C>T (p.Ser940Phe) c.1862C>T (p.Ser621Phe) c.1853C>T (p.Ser618Phe) | ClinVar |
| 5 | g.37000554_37000556del | CA3236342 | NIPBL | c.3486_3488del (p.Pro1163del) c.1-64024_1-64022del (n.1-64024_1-64022del) c.2742_2744del (p.Pro915del) c.3305-263_3305-261del (n.3305-263_3305-261del) c.3122-263_3122-261del (n.3122-263_3122-261del) c.2826_2828del (p.Pro943del) c.1869_1871del (p.Pro624del) c.1860_1862del (p.Pro621del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37000548T>A | CA443904387 | NIPBL | c.3480T>A (p.Ser1160=) c.1-64030T>A (n.1-64030T>A) c.2736T>A (p.Ser912=) c.3305-269T>A (n.3305-269T>A) c.3122-269T>A (n.3122-269T>A) c.2820T>A (p.Ser940=) c.1863T>A (p.Ser621=) c.1854T>A (p.Ser618=) | |
| 5 | g.37000548T>C | CA443904388 | NIPBL | c.3480T>C (p.Ser1160=) c.1-64030T>C (n.1-64030T>C) c.2736T>C (p.Ser912=) c.3305-269T>C (n.3305-269T>C) c.3122-269T>C (n.3122-269T>C) c.2820T>C (p.Ser940=) c.1863T>C (p.Ser621=) c.1854T>C (p.Ser618=) | |
| 5 | g.37000548T>G | CA443904389 | NIPBL | c.3480T>G (p.Ser1160=) c.1-64030T>G (n.1-64030T>G) c.2736T>G (p.Ser912=) c.3305-269T>G (n.3305-269T>G) c.3122-269T>G (n.3122-269T>G) c.2820T>G (p.Ser940=) c.1863T>G (p.Ser621=) c.1854T>G (p.Ser618=) | |
| 5 | g.37000548_37000563del | CA2506878462 | NIPBL | c.3480_3495del (p.Pro1161ValfsTer7) c.1-64030_1-64015del (n.1-64030_1-64015del) c.2736_2751del (p.Pro913ValfsTer7) c.3305-269_3305-254del (n.3305-269_3305-254del) c.3122-269_3122-254del (n.3122-269_3122-254del) c.2820_2835del (p.Pro941ValfsTer7) c.1863_1878del (p.Pro622ValfsTer7) c.1854_1869del (p.Pro619ValfsTer7) | |
| 5 | g.37000549C>A | CA359517981 | NIPBL | c.3481C>A (p.Pro1161Thr) c.1-64029C>A (n.1-64029C>A) c.2737C>A (p.Pro913Thr) c.3305-268C>A (n.3305-268C>A) c.3122-268C>A (n.3122-268C>A) c.2821C>A (p.Pro941Thr) c.1864C>A (p.Pro622Thr) c.1855C>A (p.Pro619Thr) | |
| 5 | g.37000549C= | CA1539601136 | NIPBL | c.3481C= (p.Pro1161=) c.1-64029C= (n.1-64029C=) c.2737C= (p.Pro913=) c.3305-268C= (n.3305-268C=) c.3122-268C= (n.3122-268C=) c.2821C= (p.Pro941=) c.1864C= (p.Pro622=) c.1855C= (p.Pro619=) | |
| 5 | g.37000549C>G | CA359517982 | NIPBL | c.3481C>G (p.Pro1161Ala) c.1-64029C>G (n.1-64029C>G) c.2737C>G (p.Pro913Ala) c.3305-268C>G (n.3305-268C>G) c.3122-268C>G (n.3122-268C>G) c.2821C>G (p.Pro941Ala) c.1864C>G (p.Pro622Ala) c.1855C>G (p.Pro619Ala) | |
| 5 | g.37000549C>T | CA239954 | NIPBL | c.3481C>T (p.Pro1161Ser) c.1-64029C>T (n.1-64029C>T) c.2737C>T (p.Pro913Ser) c.3305-268C>T (n.3305-268C>T) c.3122-268C>T (n.3122-268C>T) c.2821C>T (p.Pro941Ser) c.1864C>T (p.Pro622Ser) c.1855C>T (p.Pro619Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37000550del | CA2580618120 | NIPBL | c.3482del (p.Pro1161LeufsTer12) c.1-64028del (n.1-64028del) c.2738del (p.Pro913LeufsTer12) c.3305-267del (n.3305-267del) c.3122-267del (n.3122-267del) c.2822del (p.Pro941LeufsTer12) c.1865del (p.Pro622LeufsTer12) c.1856del (p.Pro619LeufsTer12) | ClinVar |
| 5 | g.37000550C>A | CA359517983 | NIPBL | c.3482C>A (p.Pro1161His) c.1-64028C>A (n.1-64028C>A) c.2738C>A (p.Pro913His) c.3305-267C>A (n.3305-267C>A) c.3122-267C>A (n.3122-267C>A) c.2822C>A (p.Pro941His) c.1865C>A (p.Pro622His) c.1856C>A (p.Pro619His) | |
| 5 | g.37000550C>G | CA359517984 | NIPBL | c.3482C>G (p.Pro1161Arg) c.1-64028C>G (n.1-64028C>G) c.2738C>G (p.Pro913Arg) c.3305-267C>G (n.3305-267C>G) c.3122-267C>G (n.3122-267C>G) c.2822C>G (p.Pro941Arg) c.1865C>G (p.Pro622Arg) c.1856C>G (p.Pro619Arg) | |
| 5 | g.37000550C>T | CA359517985 | NIPBL | c.3482C>T (p.Pro1161Leu) c.1-64028C>T (n.1-64028C>T) c.2738C>T (p.Pro913Leu) c.3305-267C>T (n.3305-267C>T) c.3122-267C>T (n.3122-267C>T) c.2822C>T (p.Pro941Leu) c.1865C>T (p.Pro622Leu) c.1856C>T (p.Pro619Leu) | |
| 5 | g.37000551T>A | CA443904393 | NIPBL | c.3483T>A (p.Pro1161=) c.1-64027T>A (n.1-64027T>A) c.2739T>A (p.Pro913=) c.3305-266T>A (n.3305-266T>A) c.3122-266T>A (n.3122-266T>A) c.2823T>A (p.Pro941=) c.1866T>A (p.Pro622=) c.1857T>A (p.Pro619=) | |
| 5 | g.37000551T>C | CA443904394 | NIPBL | c.3483T>C (p.Pro1161=) c.1-64027T>C (n.1-64027T>C) c.2739T>C (p.Pro913=) c.3305-266T>C (n.3305-266T>C) c.3122-266T>C (n.3122-266T>C) c.2823T>C (p.Pro941=) c.1866T>C (p.Pro622=) c.1857T>C (p.Pro619=) | |
| 5 | g.37000551T>G | CA443904395 | NIPBL | c.3483T>G (p.Pro1161=) c.1-64027T>G (n.1-64027T>G) c.2739T>G (p.Pro913=) c.3305-266T>G (n.3305-266T>G) c.3122-266T>G (n.3122-266T>G) c.2823T>G (p.Pro941=) c.1866T>G (p.Pro622=) c.1857T>G (p.Pro619=) | |
| 5 | g.37000552C>A | CA359517986 | NIPBL | c.3484C>A (p.Pro1162Thr) c.1-64026C>A (n.1-64026C>A) c.2740C>A (p.Pro914Thr) c.3305-265C>A (n.3305-265C>A) c.3122-265C>A (n.3122-265C>A) c.2824C>A (p.Pro942Thr) c.1867C>A (p.Pro623Thr) c.1858C>A (p.Pro620Thr) | |
| 5 | g.37000552C= | CA1539601140 | NIPBL | c.3484C= (p.Pro1162=) c.1-64026C= (n.1-64026C=) c.2740C= (p.Pro914=) c.3305-265C= (n.3305-265C=) c.3122-265C= (n.3122-265C=) c.2824C= (p.Pro942=) c.1867C= (p.Pro623=) c.1858C= (p.Pro620=) | |
| 5 | g.37000552C>G | CA117056178 | NIPBL | c.3484C>G (p.Pro1162Ala) c.1-64026C>G (n.1-64026C>G) c.2740C>G (p.Pro914Ala) c.3305-265C>G (n.3305-265C>G) c.3122-265C>G (n.3122-265C>G) c.2824C>G (p.Pro942Ala) c.1867C>G (p.Pro623Ala) c.1858C>G (p.Pro620Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37000552C>T | CA359517987 | NIPBL | c.3484C>T (p.Pro1162Ser) c.1-64026C>T (n.1-64026C>T) c.2740C>T (p.Pro914Ser) c.3305-265C>T (n.3305-265C>T) c.3122-265C>T (n.3122-265C>T) c.2824C>T (p.Pro942Ser) c.1867C>T (p.Pro623Ser) c.1858C>T (p.Pro620Ser) | gnomAD v4 |
| 5 | g.37000553del | CA2580073205 | NIPBL | c.3485del (p.Pro1162LeufsTer11) c.1-64025del (n.1-64025del) c.2741del (p.Pro914LeufsTer11) c.3305-264del (n.3305-264del) c.3122-264del (n.3122-264del) c.2825del (p.Pro942LeufsTer11) c.1868del (p.Pro623LeufsTer11) c.1859del (p.Pro620LeufsTer11) | ClinVar |
| 5 | g.37000553C>A | CA359517988 | NIPBL | c.3485C>A (p.Pro1162His) c.1-64025C>A (n.1-64025C>A) c.2741C>A (p.Pro914His) c.3305-264C>A (n.3305-264C>A) c.3122-264C>A (n.3122-264C>A) c.2825C>A (p.Pro942His) c.1868C>A (p.Pro623His) c.1859C>A (p.Pro620His) | |
| 5 | g.37000553C>G | CA359517989 | NIPBL | c.3485C>G (p.Pro1162Arg) c.1-64025C>G (n.1-64025C>G) c.2741C>G (p.Pro914Arg) c.3305-264C>G (n.3305-264C>G) c.3122-264C>G (n.3122-264C>G) c.2825C>G (p.Pro942Arg) c.1868C>G (p.Pro623Arg) c.1859C>G (p.Pro620Arg) | |
| 5 | g.37000553C>T | CA359517990 | NIPBL | c.3485C>T (p.Pro1162Leu) c.1-64025C>T (n.1-64025C>T) c.2741C>T (p.Pro914Leu) c.3305-264C>T (n.3305-264C>T) c.3122-264C>T (n.3122-264C>T) c.2825C>T (p.Pro942Leu) c.1868C>T (p.Pro623Leu) c.1859C>T (p.Pro620Leu) | |
| 5 | g.37000554T>A | CA443904397 | NIPBL | c.3486T>A (p.Pro1162=) c.1-64024T>A (n.1-64024T>A) c.2742T>A (p.Pro914=) c.3305-263T>A (n.3305-263T>A) c.3122-263T>A (n.3122-263T>A) c.2826T>A (p.Pro942=) c.1869T>A (p.Pro623=) c.1860T>A (p.Pro620=) | |
| 5 | g.37000554T>C | CA443904398 | NIPBL | c.3486T>C (p.Pro1162=) c.1-64024T>C (n.1-64024T>C) c.2742T>C (p.Pro914=) c.3305-263T>C (n.3305-263T>C) c.3122-263T>C (n.3122-263T>C) c.2826T>C (p.Pro942=) c.1869T>C (p.Pro623=) c.1860T>C (p.Pro620=) | |
| 5 | g.37000554T>G | CA443904399 | NIPBL | c.3486T>G (p.Pro1162=) c.1-64024T>G (n.1-64024T>G) c.2742T>G (p.Pro914=) c.3305-263T>G (n.3305-263T>G) c.3122-263T>G (n.3122-263T>G) c.2826T>G (p.Pro942=) c.1869T>G (p.Pro623=) c.1860T>G (p.Pro620=) | |
| 5 | g.37000555C>A | CA359517991 | NIPBL | c.3487C>A (p.Pro1163Thr) c.1-64023C>A (n.1-64023C>A) c.2743C>A (p.Pro915Thr) c.3305-262C>A (n.3305-262C>A) c.3122-262C>A (n.3122-262C>A) c.2827C>A (p.Pro943Thr) c.1870C>A (p.Pro624Thr) c.1861C>A (p.Pro621Thr) | |
| 5 | g.37000555C= | CA1539601144 | NIPBL | c.3487C= (p.Pro1163=) c.1-64023C= (n.1-64023C=) c.2743C= (p.Pro915=) c.3305-262C= (n.3305-262C=) c.3122-262C= (n.3122-262C=) c.2827C= (p.Pro943=) c.1870C= (p.Pro624=) c.1861C= (p.Pro621=) | |
| 5 | g.37000555C>G | CA359517992 | NIPBL | c.3487C>G (p.Pro1163Ala) c.1-64023C>G (n.1-64023C>G) c.2743C>G (p.Pro915Ala) c.3305-262C>G (n.3305-262C>G) c.3122-262C>G (n.3122-262C>G) c.2827C>G (p.Pro943Ala) c.1870C>G (p.Pro624Ala) c.1861C>G (p.Pro621Ala) | |
| 5 | g.37000555C>T | CA3236343 | NIPBL | c.3487C>T (p.Pro1163Ser) c.1-64023C>T (n.1-64023C>T) c.2743C>T (p.Pro915Ser) c.3305-262C>T (n.3305-262C>T) c.3122-262C>T (n.3122-262C>T) c.2827C>T (p.Pro943Ser) c.1870C>T (p.Pro624Ser) c.1861C>T (p.Pro621Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.37000556C>A | CA359517993 | NIPBL | c.3488C>A (p.Pro1163His) c.1-64022C>A (n.1-64022C>A) c.2744C>A (p.Pro915His) c.3305-261C>A (n.3305-261C>A) c.3122-261C>A (n.3122-261C>A) c.2828C>A (p.Pro943His) c.1871C>A (p.Pro624His) c.1862C>A (p.Pro621His) | |
| 5 | g.37000556C>G | CA359517994 | NIPBL | c.3488C>G (p.Pro1163Arg) c.1-64022C>G (n.1-64022C>G) c.2744C>G (p.Pro915Arg) c.3305-261C>G (n.3305-261C>G) c.3122-261C>G (n.3122-261C>G) c.2828C>G (p.Pro943Arg) c.1871C>G (p.Pro624Arg) c.1862C>G (p.Pro621Arg) | |
| 5 | g.37000556C>T | CA359517995 | NIPBL | c.3488C>T (p.Pro1163Leu) c.1-64022C>T (n.1-64022C>T) c.2744C>T (p.Pro915Leu) c.3305-261C>T (n.3305-261C>T) c.3122-261C>T (n.3122-261C>T) c.2828C>T (p.Pro943Leu) c.1871C>T (p.Pro624Leu) c.1862C>T (p.Pro621Leu) | |
| 5 | g.37000557C>A | CA443904401 | NIPBL | c.3489C>A (p.Pro1163=) c.1-64021C>A (n.1-64021C>A) c.2745C>A (p.Pro915=) c.3305-260C>A (n.3305-260C>A) c.3122-260C>A (n.3122-260C>A) c.2829C>A (p.Pro943=) c.1872C>A (p.Pro624=) c.1863C>A (p.Pro621=) | |
| 5 | g.37000557C>G | CA443904402 | NIPBL | c.3489C>G (p.Pro1163=) c.1-64021C>G (n.1-64021C>G) c.2745C>G (p.Pro915=) c.3305-260C>G (n.3305-260C>G) c.3122-260C>G (n.3122-260C>G) c.2829C>G (p.Pro943=) c.1872C>G (p.Pro624=) c.1863C>G (p.Pro621=) | |
| 5 | g.37000557C>T | CA443904403 | NIPBL | c.3489C>T (p.Pro1163=) c.1-64021C>T (n.1-64021C>T) c.2745C>T (p.Pro915=) c.3305-260C>T (n.3305-260C>T) c.3122-260C>T (n.3122-260C>T) c.2829C>T (p.Pro943=) c.1872C>T (p.Pro624=) c.1863C>T (p.Pro621=) | |
| 5 | g.37000558A= | CA1539601146 | NIPBL | c.3490A= (p.Ser1164=) c.1-64020A= (n.1-64020A=) c.2746A= (p.Ser916=) c.3305-259A= (n.3305-259A=) c.3122-259A= (n.3122-259A=) c.2830A= (p.Ser944=) c.1873A= (p.Ser625=) c.1864A= (p.Ser622=) | |
| 5 | g.37000558A>C | CA359517996 | NIPBL | c.3490A>C (p.Ser1164Arg) c.1-64020A>C (n.1-64020A>C) c.2746A>C (p.Ser916Arg) c.3305-259A>C (n.3305-259A>C) c.3122-259A>C (n.3122-259A>C) c.2830A>C (p.Ser944Arg) c.1873A>C (p.Ser625Arg) c.1864A>C (p.Ser622Arg) | |
| 5 | g.37000558A>G | CA359517997 | NIPBL | c.3490A>G (p.Ser1164Gly) c.1-64020A>G (n.1-64020A>G) c.2746A>G (p.Ser916Gly) c.3305-259A>G (n.3305-259A>G) c.3122-259A>G (n.3122-259A>G) c.2830A>G (p.Ser944Gly) c.1873A>G (p.Ser625Gly) c.1864A>G (p.Ser622Gly) | dbSNP |
| 5 | g.37000558A>T | CA359517998 | NIPBL | c.3490A>T (p.Ser1164Cys) c.1-64020A>T (n.1-64020A>T) c.2746A>T (p.Ser916Cys) c.3305-259A>T (n.3305-259A>T) c.3122-259A>T (n.3122-259A>T) c.2830A>T (p.Ser944Cys) c.1873A>T (p.Ser625Cys) c.1864A>T (p.Ser622Cys) | |
| 5 | g.37000559G>A | CA359517999 | NIPBL | c.3491G>A (p.Ser1164Asn) c.1-64019G>A (n.1-64019G>A) c.2747G>A (p.Ser916Asn) c.3305-258G>A (n.3305-258G>A) c.3122-258G>A (n.3122-258G>A) c.2831G>A (p.Ser944Asn) c.1874G>A (p.Ser625Asn) c.1865G>A (p.Ser622Asn) | dbSNP |
| 5 | g.37000559G>C | CA359518000 | NIPBL | c.3491G>C (p.Ser1164Thr) c.1-64019G>C (n.1-64019G>C) c.2747G>C (p.Ser916Thr) c.3305-258G>C (n.3305-258G>C) c.3122-258G>C (n.3122-258G>C) c.2831G>C (p.Ser944Thr) c.1874G>C (p.Ser625Thr) c.1865G>C (p.Ser622Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37000559G= | CA1539601147 | NIPBL | c.3491G= (p.Ser1164=) c.1-64019G= (n.1-64019G=) c.2747G= (p.Ser916=) c.3305-258G= (n.3305-258G=) c.3122-258G= (n.3122-258G=) c.2831G= (p.Ser944=) c.1874G= (p.Ser625=) c.1865G= (p.Ser622=) | |
| 5 | g.37000559G>T | CA359518001 | NIPBL | c.3491G>T (p.Ser1164Ile) c.1-64019G>T (n.1-64019G>T) c.2747G>T (p.Ser916Ile) c.3305-258G>T (n.3305-258G>T) c.3122-258G>T (n.3122-258G>T) c.2831G>T (p.Ser944Ile) c.1874G>T (p.Ser625Ile) c.1865G>T (p.Ser622Ile) | |
| 5 | g.37000560C>A | CA359518002 | NIPBL | c.3492C>A (p.Ser1164Arg) c.1-64018C>A (n.1-64018C>A) c.2748C>A (p.Ser916Arg) c.3305-257C>A (n.3305-257C>A) c.3122-257C>A (n.3122-257C>A) c.2832C>A (p.Ser944Arg) c.1875C>A (p.Ser625Arg) c.1866C>A (p.Ser622Arg) | |
| 5 | g.37000560C>G | CA359518003 | NIPBL | c.3492C>G (p.Ser1164Arg) c.1-64018C>G (n.1-64018C>G) c.2748C>G (p.Ser916Arg) c.3305-257C>G (n.3305-257C>G) c.3122-257C>G (n.3122-257C>G) c.2832C>G (p.Ser944Arg) c.1875C>G (p.Ser625Arg) c.1866C>G (p.Ser622Arg) | |
| 5 | g.37000560C>T | CA443904405 | NIPBL | c.3492C>T (p.Ser1164=) c.1-64018C>T (n.1-64018C>T) c.2748C>T (p.Ser916=) c.3305-257C>T (n.3305-257C>T) c.3122-257C>T (n.3122-257C>T) c.2832C>T (p.Ser944=) c.1875C>T (p.Ser625=) c.1866C>T (p.Ser622=) | |
| 5 | g.37000561C>A | CA359518004 | NIPBL | c.3493C>A (p.Leu1165Ile) c.1-64017C>A (n.1-64017C>A) c.2749C>A (p.Leu917Ile) c.3305-256C>A (n.3305-256C>A) c.3122-256C>A (n.3122-256C>A) c.2833C>A (p.Leu945Ile) c.1876C>A (p.Leu626Ile) c.1867C>A (p.Leu623Ile) | |
| 5 | g.37000561C= | CA1539601152 | NIPBL | c.3493C= (p.Leu1165=) c.1-64017C= (n.1-64017C=) c.2749C= (p.Leu917=) c.3305-256C= (n.3305-256C=) c.3122-256C= (n.3122-256C=) c.2833C= (p.Leu945=) c.1876C= (p.Leu626=) c.1867C= (p.Leu623=) | |
| 5 | g.37000561C>G | CA359518005 | NIPBL | c.3493C>G (p.Leu1165Val) c.1-64017C>G (n.1-64017C>G) c.2749C>G (p.Leu917Val) c.3305-256C>G (n.3305-256C>G) c.3122-256C>G (n.3122-256C>G) c.2833C>G (p.Leu945Val) c.1876C>G (p.Leu626Val) c.1867C>G (p.Leu623Val) | |
| 5 | g.37000561C>T | CA3236344 | NIPBL | c.3493C>T (p.Leu1165Phe) c.1-64017C>T (n.1-64017C>T) c.2749C>T (p.Leu917Phe) c.3305-256C>T (n.3305-256C>T) c.3122-256C>T (n.3122-256C>T) c.2833C>T (p.Leu945Phe) c.1876C>T (p.Leu626Phe) c.1867C>T (p.Leu623Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37000562T>A | CA359518006 | NIPBL | c.3494T>A (p.Leu1165His) c.1-64016T>A (n.1-64016T>A) c.2750T>A (p.Leu917His) c.3305-255T>A (n.3305-255T>A) c.3122-255T>A (n.3122-255T>A) c.2834T>A (p.Leu945His) c.1877T>A (p.Leu626His) c.1868T>A (p.Leu623His) | |
| 5 | g.37000562T>C | CA359518007 | NIPBL | c.3494T>C (p.Leu1165Pro) c.1-64016T>C (n.1-64016T>C) c.2750T>C (p.Leu917Pro) c.3305-255T>C (n.3305-255T>C) c.3122-255T>C (n.3122-255T>C) c.2834T>C (p.Leu945Pro) c.1877T>C (p.Leu626Pro) c.1868T>C (p.Leu623Pro) | |
| 5 | g.37000562T>G | CA359518008 | NIPBL | c.3494T>G (p.Leu1165Arg) c.1-64016T>G (n.1-64016T>G) c.2750T>G (p.Leu917Arg) c.3305-255T>G (n.3305-255T>G) c.3122-255T>G (n.3122-255T>G) c.2834T>G (p.Leu945Arg) c.1877T>G (p.Leu626Arg) c.1868T>G (p.Leu623Arg) | |
| 5 | g.37000563T>A | CA443904409 | NIPBL | c.3495T>A (p.Leu1165=) c.1-64015T>A (n.1-64015T>A) c.2751T>A (p.Leu917=) c.3305-254T>A (n.3305-254T>A) c.3122-254T>A (n.3122-254T>A) c.2835T>A (p.Leu945=) c.1878T>A (p.Leu626=) c.1869T>A (p.Leu623=) | |
| 5 | g.37000563T>C | CA443904410 | NIPBL | c.3495T>C (p.Leu1165=) c.1-64015T>C (n.1-64015T>C) c.2751T>C (p.Leu917=) c.3305-254T>C (n.3305-254T>C) c.3122-254T>C (n.3122-254T>C) c.2835T>C (p.Leu945=) c.1878T>C (p.Leu626=) c.1869T>C (p.Leu623=) | dbSNP |
| 5 | g.37000563T>G | CA443904408 | NIPBL | c.3495T>G (p.Leu1165=) c.1-64015T>G (n.1-64015T>G) c.2751T>G (p.Leu917=) c.3305-254T>G (n.3305-254T>G) c.3122-254T>G (n.3122-254T>G) c.2835T>G (p.Leu945=) c.1878T>G (p.Leu626=) c.1869T>G (p.Leu623=) | dbSNP |
| 5 | g.37000563T= | CA1539601154 | NIPBL | c.3495T= (p.Leu1165=) c.1-64015T= (n.1-64015T=) c.2751T= (p.Leu917=) c.3305-254T= (n.3305-254T=) c.3122-254T= (n.3122-254T=) c.2835T= (p.Leu945=) c.1878T= (p.Leu626=) c.1869T= (p.Leu623=) | |
| 5 | g.37000564A>C | CA359518009 | NIPBL | c.3496A>C (p.Ser1166Arg) c.1-64014A>C (n.1-64014A>C) c.2752A>C (p.Ser918Arg) c.3305-253A>C (n.3305-253A>C) c.3122-253A>C (n.3122-253A>C) c.2836A>C (p.Ser946Arg) c.1879A>C (p.Ser627Arg) c.1870A>C (p.Ser624Arg) | |
| 5 | g.37000564A>G | CA359518010 | NIPBL | c.3496A>G (p.Ser1166Gly) c.1-64014A>G (n.1-64014A>G) c.2752A>G (p.Ser918Gly) c.3305-253A>G (n.3305-253A>G) c.3122-253A>G (n.3122-253A>G) c.2836A>G (p.Ser946Gly) c.1879A>G (p.Ser627Gly) c.1870A>G (p.Ser624Gly) | |
| 5 | g.37000564A>T | CA359518011 | NIPBL | c.3496A>T (p.Ser1166Cys) c.1-64014A>T (n.1-64014A>T) c.2752A>T (p.Ser918Cys) c.3305-253A>T (n.3305-253A>T) c.3122-253A>T (n.3122-253A>T) c.2836A>T (p.Ser946Cys) c.1879A>T (p.Ser627Cys) c.1870A>T (p.Ser624Cys) | |
| 5 | g.37000566_37000569del | CA2739289759 | NIPBL | c.3498_3501del (p.Ser1166ArgfsTer6) c.1-64012_1-64009del (n.1-64012_1-64009del) c.2754_2757del (p.Ser918ArgfsTer6) c.3305-251_3305-248del (n.3305-251_3305-248del) c.3122-251_3122-248del (n.3122-251_3122-248del) c.2838_2841del (p.Ser946ArgfsTer6) c.1881_1884del (p.Ser627ArgfsTer6) c.1872_1875del (p.Ser624ArgfsTer6) | |
| 5 | g.37000565G>A | CA359518012 | NIPBL | c.3497G>A (p.Ser1166Asn) c.1-64013G>A (n.1-64013G>A) c.2753G>A (p.Ser918Asn) c.3305-252G>A (n.3305-252G>A) c.3122-252G>A (n.3122-252G>A) c.2837G>A (p.Ser946Asn) c.1880G>A (p.Ser627Asn) c.1871G>A (p.Ser624Asn) | |
| 5 | g.37000565G>C | CA359518014 | NIPBL | c.3497G>C (p.Ser1166Thr) c.1-64013G>C (n.1-64013G>C) c.2753G>C (p.Ser918Thr) c.3305-252G>C (n.3305-252G>C) c.3122-252G>C (n.3122-252G>C) c.2837G>C (p.Ser946Thr) c.1880G>C (p.Ser627Thr) c.1871G>C (p.Ser624Thr) | |
| 5 | g.37000565G>T | CA359518013 | NIPBL | c.3497G>T (p.Ser1166Ile) c.1-64013G>T (n.1-64013G>T) c.2753G>T (p.Ser918Ile) c.3305-252G>T (n.3305-252G>T) c.3122-252G>T (n.3122-252G>T) c.2837G>T (p.Ser946Ile) c.1880G>T (p.Ser627Ile) c.1871G>T (p.Ser624Ile) | |
| 5 | g.37000566T>A | CA359518015 | NIPBL | c.3498T>A (p.Ser1166Arg) c.1-64012T>A (n.1-64012T>A) c.2754T>A (p.Ser918Arg) c.3305-251T>A (n.3305-251T>A) c.3122-251T>A (n.3122-251T>A) c.2838T>A (p.Ser946Arg) c.1881T>A (p.Ser627Arg) c.1872T>A (p.Ser624Arg) | |
| 5 | g.37000566T>C | CA443904414 | NIPBL | c.3498T>C (p.Ser1166=) c.1-64012T>C (n.1-64012T>C) c.2754T>C (p.Ser918=) c.3305-251T>C (n.3305-251T>C) c.3122-251T>C (n.3122-251T>C) c.2838T>C (p.Ser946=) c.1881T>C (p.Ser627=) c.1872T>C (p.Ser624=) | |
| 5 | g.37000566T>G | CA359518016 | NIPBL | c.3498T>G (p.Ser1166Arg) c.1-64012T>G (n.1-64012T>G) c.2754T>G (p.Ser918Arg) c.3305-251T>G (n.3305-251T>G) c.3122-251T>G (n.3122-251T>G) c.2838T>G (p.Ser946Arg) c.1881T>G (p.Ser627Arg) c.1872T>G (p.Ser624Arg) | |
| 5 | g.37000567G>A | CA359518017 | NIPBL | c.3499G>A (p.Glu1167Lys) c.1-64011G>A (n.1-64011G>A) c.2755G>A (p.Glu919Lys) c.3305-250G>A (n.3305-250G>A) c.3122-250G>A (n.3122-250G>A) c.2839G>A (p.Glu947Lys) c.1882G>A (p.Glu628Lys) c.1873G>A (p.Glu625Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37000567G>C | CA359518018 | NIPBL | c.3499G>C (p.Glu1167Gln) c.1-64011G>C (n.1-64011G>C) c.2755G>C (p.Glu919Gln) c.3305-250G>C (n.3305-250G>C) c.3122-250G>C (n.3122-250G>C) c.2839G>C (p.Glu947Gln) c.1882G>C (p.Glu628Gln) c.1873G>C (p.Glu625Gln) | |
| 5 | g.37000567G= | CA1539601155 | NIPBL | c.3499G= (p.Glu1167=) c.1-64011G= (n.1-64011G=) c.2755G= (p.Glu919=) c.3305-250G= (n.3305-250G=) c.3122-250G= (n.3122-250G=) c.2839G= (p.Glu947=) c.1882G= (p.Glu628=) c.1873G= (p.Glu625=) | |
| 5 | g.37000567G>T | CA359518019 | NIPBL | c.3499G>T (p.Glu1167Ter) c.1-64011G>T (n.1-64011G>T) c.2755G>T (p.Glu919Ter) c.3305-250G>T (n.3305-250G>T) c.3122-250G>T (n.3122-250G>T) c.2839G>T (p.Glu947Ter) c.1882G>T (p.Glu628Ter) c.1873G>T (p.Glu625Ter) | |
| 5 | g.37000568A>C | CA359518022 | NIPBL | c.3500A>C (p.Glu1167Ala) c.1-64010A>C (n.1-64010A>C) c.2756A>C (p.Glu919Ala) c.3305-249A>C (n.3305-249A>C) c.3122-249A>C (n.3122-249A>C) c.2840A>C (p.Glu947Ala) c.1883A>C (p.Glu628Ala) c.1874A>C (p.Glu625Ala) | |
| 5 | g.37000568A>G | CA359518021 | NIPBL | c.3500A>G (p.Glu1167Gly) c.1-64010A>G (n.1-64010A>G) c.2756A>G (p.Glu919Gly) c.3305-249A>G (n.3305-249A>G) c.3122-249A>G (n.3122-249A>G) c.2840A>G (p.Glu947Gly) c.1883A>G (p.Glu628Gly) c.1874A>G (p.Glu625Gly) | |
| 5 | g.37000568A>T | CA359518020 | NIPBL | c.3500A>T (p.Glu1167Val) c.1-64010A>T (n.1-64010A>T) c.2756A>T (p.Glu919Val) c.3305-249A>T (n.3305-249A>T) c.3122-249A>T (n.3122-249A>T) c.2840A>T (p.Glu947Val) c.1883A>T (p.Glu628Val) c.1874A>T (p.Glu625Val) | |
| 5 | g.37000569G>A | CA443904416 | NIPBL | c.3501G>A (p.Glu1167=) c.1-64009G>A (n.1-64009G>A) c.2757G>A (p.Glu919=) c.3305-248G>A (n.3305-248G>A) c.3122-248G>A (n.3122-248G>A) c.2841G>A (p.Glu947=) c.1884G>A (p.Glu628=) c.1875G>A (p.Glu625=) | |
| 5 | g.37000569G>C | CA359518024 | NIPBL | c.3501G>C (p.Glu1167Asp) c.1-64009G>C (n.1-64009G>C) c.2757G>C (p.Glu919Asp) c.3305-248G>C (n.3305-248G>C) c.3122-248G>C (n.3122-248G>C) c.2841G>C (p.Glu947Asp) c.1884G>C (p.Glu628Asp) c.1875G>C (p.Glu625Asp) | |
| 5 | g.37000569G>T | CA359518023 | NIPBL | c.3501G>T (p.Glu1167Asp) c.1-64009G>T (n.1-64009G>T) c.2757G>T (p.Glu919Asp) c.3305-248G>T (n.3305-248G>T) c.3122-248G>T (n.3122-248G>T) c.2841G>T (p.Glu947Asp) c.1884G>T (p.Glu628Asp) c.1875G>T (p.Glu625Asp) | |
| 5 | g.37000570G>A | CA359518027 | NIPBL | c.3502G>A (p.Val1168Ile) c.1-64008G>A (n.1-64008G>A) c.2758G>A (p.Val920Ile) c.3305-247G>A (n.3305-247G>A) c.3122-247G>A (n.3122-247G>A) c.2842G>A (p.Val948Ile) c.1885G>A (p.Val629Ile) c.1876G>A (p.Val626Ile) | |
| 5 | g.37000570G>C | CA359518025 | NIPBL | c.3502G>C (p.Val1168Leu) c.1-64008G>C (n.1-64008G>C) c.2758G>C (p.Val920Leu) c.3305-247G>C (n.3305-247G>C) c.3122-247G>C (n.3122-247G>C) c.2842G>C (p.Val948Leu) c.1885G>C (p.Val629Leu) c.1876G>C (p.Val626Leu) | |
| 5 | g.37000570G>T | CA359518026 | NIPBL | c.3502G>T (p.Val1168Phe) c.1-64008G>T (n.1-64008G>T) c.2758G>T (p.Val920Phe) c.3305-247G>T (n.3305-247G>T) c.3122-247G>T (n.3122-247G>T) c.2842G>T (p.Val948Phe) c.1885G>T (p.Val629Phe) c.1876G>T (p.Val626Phe) |