| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37020775G>A | CA443905147 | NIPBL | c.5226G>A (p.Lys1742=) c.1-43803G>A (n.1-43803G>A) c.4482G>A (p.Lys1494=) c.5028G>A (p.Lys1676=) c.4845G>A (p.Lys1615=) c.4566G>A (p.Lys1522=) c.3609G>A (p.Lys1203=) c.3600G>A (p.Lys1200=) | dbSNP gnomAD v4 |
| 5 | g.37020775G>C | CA359487694 | NIPBL | c.5226G>C (p.Lys1742Asn) c.1-43803G>C (n.1-43803G>C) c.4482G>C (p.Lys1494Asn) c.5028G>C (p.Lys1676Asn) c.4845G>C (p.Lys1615Asn) c.4566G>C (p.Lys1522Asn) c.3609G>C (p.Lys1203Asn) c.3600G>C (p.Lys1200Asn) | |
| 5 | g.37020775G= | CA1539584442 | NIPBL | c.5226G= (p.Lys1742=) c.1-43803G= (n.1-43803G=) c.4482G= (p.Lys1494=) c.5028G= (p.Lys1676=) c.4845G= (p.Lys1615=) c.4566G= (p.Lys1522=) c.3609G= (p.Lys1203=) c.3600G= (p.Lys1200=) | |
| 5 | g.37020775G>T | CA359487696 | NIPBL | c.5226G>T (p.Lys1742Asn) c.1-43803G>T (n.1-43803G>T) c.4482G>T (p.Lys1494Asn) c.5028G>T (p.Lys1676Asn) c.4845G>T (p.Lys1615Asn) c.4566G>T (p.Lys1522Asn) c.3609G>T (p.Lys1203Asn) c.3600G>T (p.Lys1200Asn) | |
| 5 | g.37020776A= | CA1539584449 | NIPBL | c.5227A= (p.Met1743=) c.1-43802A= (n.1-43802A=) c.4483A= (p.Met1495=) c.5029A= (p.Met1677=) c.4846A= (p.Met1616=) c.4567A= (p.Met1523=) c.3610A= (p.Met1204=) c.3601A= (p.Met1201=) | |
| 5 | g.37020776A>C | CA359487698 | NIPBL | c.5227A>C (p.Met1743Leu) c.1-43802A>C (n.1-43802A>C) c.4483A>C (p.Met1495Leu) c.5029A>C (p.Met1677Leu) c.4846A>C (p.Met1616Leu) c.4567A>C (p.Met1523Leu) c.3610A>C (p.Met1204Leu) c.3601A>C (p.Met1201Leu) | |
| 5 | g.37020776A>G | CA3236734 | NIPBL | c.5227A>G (p.Met1743Val) c.1-43802A>G (n.1-43802A>G) c.4483A>G (p.Met1495Val) c.5029A>G (p.Met1677Val) c.4846A>G (p.Met1616Val) c.4567A>G (p.Met1523Val) c.3610A>G (p.Met1204Val) c.3601A>G (p.Met1201Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020776A>T | CA359487702 | NIPBL | c.5227A>T (p.Met1743Leu) c.1-43802A>T (n.1-43802A>T) c.4483A>T (p.Met1495Leu) c.5029A>T (p.Met1677Leu) c.4846A>T (p.Met1616Leu) c.4567A>T (p.Met1523Leu) c.3610A>T (p.Met1204Leu) c.3601A>T (p.Met1201Leu) | COSMIC COSMIC |
| 5 | g.37020777T>A | CA359487718 | NIPBL | c.5228T>A (p.Met1743Lys) c.1-43801T>A (n.1-43801T>A) c.4484T>A (p.Met1495Lys) c.5030T>A (p.Met1677Lys) c.4847T>A (p.Met1616Lys) c.4568T>A (p.Met1523Lys) c.3611T>A (p.Met1204Lys) c.3602T>A (p.Met1201Lys) | dbSNP |
| 5 | g.37020777T>C | CA359487724 | NIPBL | c.5228T>C (p.Met1743Thr) c.1-43801T>C (n.1-43801T>C) c.4484T>C (p.Met1495Thr) c.5030T>C (p.Met1677Thr) c.4847T>C (p.Met1616Thr) c.4568T>C (p.Met1523Thr) c.3611T>C (p.Met1204Thr) c.3602T>C (p.Met1201Thr) | |
| 5 | g.37020777T>G | CA359487727 | NIPBL | c.5228T>G (p.Met1743Arg) c.1-43801T>G (n.1-43801T>G) c.4484T>G (p.Met1495Arg) c.5030T>G (p.Met1677Arg) c.4847T>G (p.Met1616Arg) c.4568T>G (p.Met1523Arg) c.3611T>G (p.Met1204Arg) c.3602T>G (p.Met1201Arg) | |
| 5 | g.37020777T= | CA1539584463 | NIPBL | c.5228T= (p.Met1743=) c.1-43801T= (n.1-43801T=) c.4484T= (p.Met1495=) c.5030T= (p.Met1677=) c.4847T= (p.Met1616=) c.4568T= (p.Met1523=) c.3611T= (p.Met1204=) c.3602T= (p.Met1201=) | |
| 5 | g.37020778G>A | CA359487740 | NIPBL | c.5229G>A (p.Met1743Ile) c.1-43800G>A (n.1-43800G>A) c.4485G>A (p.Met1495Ile) c.5031G>A (p.Met1677Ile) c.4848G>A (p.Met1616Ile) c.4569G>A (p.Met1523Ile) c.3612G>A (p.Met1204Ile) c.3603G>A (p.Met1201Ile) | dbSNP gnomAD v2 |
| 5 | g.37020778G>C | CA359487743 | NIPBL | c.5229G>C (p.Met1743Ile) c.1-43800G>C (n.1-43800G>C) c.4485G>C (p.Met1495Ile) c.5031G>C (p.Met1677Ile) c.4848G>C (p.Met1616Ile) c.4569G>C (p.Met1523Ile) c.3612G>C (p.Met1204Ile) c.3603G>C (p.Met1201Ile) | |
| 5 | g.37020778G= | CA1539584469 | NIPBL | c.5229G= (p.Met1743=) c.1-43800G= (n.1-43800G=) c.4485G= (p.Met1495=) c.5031G= (p.Met1677=) c.4848G= (p.Met1616=) c.4569G= (p.Met1523=) c.3612G= (p.Met1204=) c.3603G= (p.Met1201=) | |
| 5 | g.37020778G>T | CA359487745 | NIPBL | c.5229G>T (p.Met1743Ile) c.1-43800G>T (n.1-43800G>T) c.4485G>T (p.Met1495Ile) c.5031G>T (p.Met1677Ile) c.4848G>T (p.Met1616Ile) c.4569G>T (p.Met1523Ile) c.3612G>T (p.Met1204Ile) c.3603G>T (p.Met1201Ile) | COSMIC COSMIC |
| 5 | g.37020779A= | CA1539584476 | NIPBL | c.5230A= (p.Asn1744=) c.1-43799A= (n.1-43799A=) c.4486A= (p.Asn1496=) c.5032A= (p.Asn1678=) c.4849A= (p.Asn1617=) c.4570A= (p.Asn1524=) c.3613A= (p.Asn1205=) c.3604A= (p.Asn1202=) | |
| 5 | g.37020779A>C | CA359487749 | NIPBL | c.5230A>C (p.Asn1744His) c.1-43799A>C (n.1-43799A>C) c.4486A>C (p.Asn1496His) c.5032A>C (p.Asn1678His) c.4849A>C (p.Asn1617His) c.4570A>C (p.Asn1524His) c.3613A>C (p.Asn1205His) c.3604A>C (p.Asn1202His) | |
| 5 | g.37020779A>G | CA359487752 | NIPBL | c.5230A>G (p.Asn1744Asp) c.1-43799A>G (n.1-43799A>G) c.4486A>G (p.Asn1496Asp) c.5032A>G (p.Asn1678Asp) c.4849A>G (p.Asn1617Asp) c.4570A>G (p.Asn1524Asp) c.3613A>G (p.Asn1205Asp) c.3604A>G (p.Asn1202Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020779A>T | CA3236735 | NIPBL | c.5230A>T (p.Asn1744Tyr) c.1-43799A>T (n.1-43799A>T) c.4486A>T (p.Asn1496Tyr) c.5032A>T (p.Asn1678Tyr) c.4849A>T (p.Asn1617Tyr) c.4570A>T (p.Asn1524Tyr) c.3613A>T (p.Asn1205Tyr) c.3604A>T (p.Asn1202Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020780A>C | CA359487753 | NIPBL | c.5231A>C (p.Asn1744Thr) c.1-43798A>C (n.1-43798A>C) c.4487A>C (p.Asn1496Thr) c.5033A>C (p.Asn1678Thr) c.4850A>C (p.Asn1617Thr) c.4571A>C (p.Asn1524Thr) c.3614A>C (p.Asn1205Thr) c.3605A>C (p.Asn1202Thr) | |
| 5 | g.37020780A>G | CA359487756 | NIPBL | c.5231A>G (p.Asn1744Ser) c.1-43798A>G (n.1-43798A>G) c.4487A>G (p.Asn1496Ser) c.5033A>G (p.Asn1678Ser) c.4850A>G (p.Asn1617Ser) c.4571A>G (p.Asn1524Ser) c.3614A>G (p.Asn1205Ser) c.3605A>G (p.Asn1202Ser) | gnomAD v4 |
| 5 | g.37020780A>T | CA359487757 | NIPBL | c.5231A>T (p.Asn1744Ile) c.1-43798A>T (n.1-43798A>T) c.4487A>T (p.Asn1496Ile) c.5033A>T (p.Asn1678Ile) c.4850A>T (p.Asn1617Ile) c.4571A>T (p.Asn1524Ile) c.3614A>T (p.Asn1205Ile) c.3605A>T (p.Asn1202Ile) | |
| 5 | g.37020781C>A | CA359487760 | NIPBL | c.5232C>A (p.Asn1744Lys) c.1-43797C>A (n.1-43797C>A) c.4488C>A (p.Asn1496Lys) c.5034C>A (p.Asn1678Lys) c.4851C>A (p.Asn1617Lys) c.4572C>A (p.Asn1524Lys) c.3615C>A (p.Asn1205Lys) c.3606C>A (p.Asn1202Lys) | |
| 5 | g.37020781C>G | CA359487763 | NIPBL | c.5232C>G (p.Asn1744Lys) c.1-43797C>G (n.1-43797C>G) c.4488C>G (p.Asn1496Lys) c.5034C>G (p.Asn1678Lys) c.4851C>G (p.Asn1617Lys) c.4572C>G (p.Asn1524Lys) c.3615C>G (p.Asn1205Lys) c.3606C>G (p.Asn1202Lys) | |
| 5 | g.37020781C>T | CA443905150 | NIPBL | c.5232C>T (p.Asn1744=) c.1-43797C>T (n.1-43797C>T) c.4488C>T (p.Asn1496=) c.5034C>T (p.Asn1678=) c.4851C>T (p.Asn1617=) c.4572C>T (p.Asn1524=) c.3615C>T (p.Asn1205=) c.3606C>T (p.Asn1202=) | gnomAD v4 |
| 5 | g.37020782T>A | CA359487773 | NIPBL | c.5233T>A (p.Ser1745Thr) c.1-43796T>A (n.1-43796T>A) c.4489T>A (p.Ser1497Thr) c.5035T>A (p.Ser1679Thr) c.4852T>A (p.Ser1618Thr) c.4573T>A (p.Ser1525Thr) c.3616T>A (p.Ser1206Thr) c.3607T>A (p.Ser1203Thr) | |
| 5 | g.37020782T>C | CA359487770 | NIPBL | c.5233T>C (p.Ser1745Pro) c.1-43796T>C (n.1-43796T>C) c.4489T>C (p.Ser1497Pro) c.5035T>C (p.Ser1679Pro) c.4852T>C (p.Ser1618Pro) c.4573T>C (p.Ser1525Pro) c.3616T>C (p.Ser1206Pro) c.3607T>C (p.Ser1203Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020782T>G | CA359487766 | NIPBL | c.5233T>G (p.Ser1745Ala) c.1-43796T>G (n.1-43796T>G) c.4489T>G (p.Ser1497Ala) c.5035T>G (p.Ser1679Ala) c.4852T>G (p.Ser1618Ala) c.4573T>G (p.Ser1525Ala) c.3616T>G (p.Ser1206Ala) c.3607T>G (p.Ser1203Ala) | |
| 5 | g.37020782T= | CA1539584520 | NIPBL | c.5233T= (p.Ser1745=) c.1-43796T= (n.1-43796T=) c.4489T= (p.Ser1497=) c.5035T= (p.Ser1679=) c.4852T= (p.Ser1618=) c.4573T= (p.Ser1525=) c.3616T= (p.Ser1206=) c.3607T= (p.Ser1203=) | |
| 5 | g.37020783C>A | CA359487777 | NIPBL | c.5234C>A (p.Ser1745Tyr) c.1-43795C>A (n.1-43795C>A) c.4490C>A (p.Ser1497Tyr) c.5036C>A (p.Ser1679Tyr) c.4853C>A (p.Ser1618Tyr) c.4574C>A (p.Ser1525Tyr) c.3617C>A (p.Ser1206Tyr) c.3608C>A (p.Ser1203Tyr) | |
| 5 | g.37020783C>G | CA359487780 | NIPBL | c.5234C>G (p.Ser1745Cys) c.1-43795C>G (n.1-43795C>G) c.4490C>G (p.Ser1497Cys) c.5036C>G (p.Ser1679Cys) c.4853C>G (p.Ser1618Cys) c.4574C>G (p.Ser1525Cys) c.3617C>G (p.Ser1206Cys) c.3608C>G (p.Ser1203Cys) | |
| 5 | g.37020783C>T | CA359487781 | NIPBL | c.5234C>T (p.Ser1745Phe) c.1-43795C>T (n.1-43795C>T) c.4490C>T (p.Ser1497Phe) c.5036C>T (p.Ser1679Phe) c.4853C>T (p.Ser1618Phe) c.4574C>T (p.Ser1525Phe) c.3617C>T (p.Ser1206Phe) c.3608C>T (p.Ser1203Phe) | |
| 5 | g.37020784T>A | CA443905152 | NIPBL | c.5235T>A (p.Ser1745=) c.1-43794T>A (n.1-43794T>A) c.4491T>A (p.Ser1497=) c.5037T>A (p.Ser1679=) c.4854T>A (p.Ser1618=) c.4575T>A (p.Ser1525=) c.3618T>A (p.Ser1206=) c.3609T>A (p.Ser1203=) | |
| 5 | g.37020784T>C | CA443905155 | NIPBL | c.5235T>C (p.Ser1745=) c.1-43794T>C (n.1-43794T>C) c.4491T>C (p.Ser1497=) c.5037T>C (p.Ser1679=) c.4854T>C (p.Ser1618=) c.4575T>C (p.Ser1525=) c.3618T>C (p.Ser1206=) c.3609T>C (p.Ser1203=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020784T>G | CA443905156 | NIPBL | c.5235T>G (p.Ser1745=) c.1-43794T>G (n.1-43794T>G) c.4491T>G (p.Ser1497=) c.5037T>G (p.Ser1679=) c.4854T>G (p.Ser1618=) c.4575T>G (p.Ser1525=) c.3618T>G (p.Ser1206=) c.3609T>G (p.Ser1203=) | |
| 5 | g.37020784T= | CA1539584523 | NIPBL | c.5235T= (p.Ser1745=) c.1-43794T= (n.1-43794T=) c.4491T= (p.Ser1497=) c.5037T= (p.Ser1679=) c.4854T= (p.Ser1618=) c.4575T= (p.Ser1525=) c.3618T= (p.Ser1206=) c.3609T= (p.Ser1203=) | |
| 5 | g.37020785G>A | CA359487782 | NIPBL | c.5236G>A (p.Asp1746Asn) c.1-43793G>A (n.1-43793G>A) c.4492G>A (p.Asp1498Asn) c.5038G>A (p.Asp1680Asn) c.4855G>A (p.Asp1619Asn) c.4576G>A (p.Asp1526Asn) c.3619G>A (p.Asp1207Asn) c.3610G>A (p.Asp1204Asn) | |
| 5 | g.37020785G>C | CA359487783 | NIPBL | c.5236G>C (p.Asp1746His) c.1-43793G>C (n.1-43793G>C) c.4492G>C (p.Asp1498His) c.5038G>C (p.Asp1680His) c.4855G>C (p.Asp1619His) c.4576G>C (p.Asp1526His) c.3619G>C (p.Asp1207His) c.3610G>C (p.Asp1204His) | gnomAD v4 |
| 5 | g.37020785G>T | CA359487785 | NIPBL | c.5236G>T (p.Asp1746Tyr) c.1-43793G>T (n.1-43793G>T) c.4492G>T (p.Asp1498Tyr) c.5038G>T (p.Asp1680Tyr) c.4855G>T (p.Asp1619Tyr) c.4576G>T (p.Asp1526Tyr) c.3619G>T (p.Asp1207Tyr) c.3610G>T (p.Asp1204Tyr) | |
| 5 | g.37020786A>C | CA359487788 | NIPBL | c.5237A>C (p.Asp1746Ala) c.1-43792A>C (n.1-43792A>C) c.4493A>C (p.Asp1498Ala) c.5039A>C (p.Asp1680Ala) c.4856A>C (p.Asp1619Ala) c.4577A>C (p.Asp1526Ala) c.3620A>C (p.Asp1207Ala) c.3611A>C (p.Asp1204Ala) | dbSNP |
| 5 | g.37020786A>G | CA359487794 | NIPBL | c.5237A>G (p.Asp1746Gly) c.1-43792A>G (n.1-43792A>G) c.4493A>G (p.Asp1498Gly) c.5039A>G (p.Asp1680Gly) c.4856A>G (p.Asp1619Gly) c.4577A>G (p.Asp1526Gly) c.3620A>G (p.Asp1207Gly) c.3611A>G (p.Asp1204Gly) | |
| 5 | g.37020786A>T | CA359487790 | NIPBL | c.5237A>T (p.Asp1746Val) c.1-43792A>T (n.1-43792A>T) c.4493A>T (p.Asp1498Val) c.5039A>T (p.Asp1680Val) c.4856A>T (p.Asp1619Val) c.4577A>T (p.Asp1526Val) c.3620A>T (p.Asp1207Val) c.3611A>T (p.Asp1204Val) | |
| 5 | g.37020787T>A | CA359487796 | NIPBL | c.5238T>A (p.Asp1746Glu) c.1-43791T>A (n.1-43791T>A) c.4494T>A (p.Asp1498Glu) c.5040T>A (p.Asp1680Glu) c.4857T>A (p.Asp1619Glu) c.4578T>A (p.Asp1526Glu) c.3621T>A (p.Asp1207Glu) c.3612T>A (p.Asp1204Glu) | |
| 5 | g.37020787T>C | CA443905158 | NIPBL | c.5238T>C (p.Asp1746=) c.1-43791T>C (n.1-43791T>C) c.4494T>C (p.Asp1498=) c.5040T>C (p.Asp1680=) c.4857T>C (p.Asp1619=) c.4578T>C (p.Asp1526=) c.3621T>C (p.Asp1207=) c.3612T>C (p.Asp1204=) | |
| 5 | g.37020787T>G | CA359487799 | NIPBL | c.5238T>G (p.Asp1746Glu) c.1-43791T>G (n.1-43791T>G) c.4494T>G (p.Asp1498Glu) c.5040T>G (p.Asp1680Glu) c.4857T>G (p.Asp1619Glu) c.4578T>G (p.Asp1526Glu) c.3621T>G (p.Asp1207Glu) c.3612T>G (p.Asp1204Glu) | |
| 5 | g.37020788A= | CA1539584525 | NIPBL | c.5239A= (p.Thr1747=) c.1-43790A= (n.1-43790A=) c.4495A= (p.Thr1499=) c.5041A= (p.Thr1681=) c.4858A= (p.Thr1620=) c.4579A= (p.Thr1527=) c.3622A= (p.Thr1208=) c.3613A= (p.Thr1205=) | |
| 5 | g.37020788A>C | CA359487803 | NIPBL | c.5239A>C (p.Thr1747Pro) c.1-43790A>C (n.1-43790A>C) c.4495A>C (p.Thr1499Pro) c.5041A>C (p.Thr1681Pro) c.4858A>C (p.Thr1620Pro) c.4579A>C (p.Thr1527Pro) c.3622A>C (p.Thr1208Pro) c.3613A>C (p.Thr1205Pro) | |
| 5 | g.37020788A>G | CA359487806 | NIPBL | c.5239A>G (p.Thr1747Ala) c.1-43790A>G (n.1-43790A>G) c.4495A>G (p.Thr1499Ala) c.5041A>G (p.Thr1681Ala) c.4858A>G (p.Thr1620Ala) c.4579A>G (p.Thr1527Ala) c.3622A>G (p.Thr1208Ala) c.3613A>G (p.Thr1205Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020788A>T | CA359487815 | NIPBL | c.5239A>T (p.Thr1747Ser) c.1-43790A>T (n.1-43790A>T) c.4495A>T (p.Thr1499Ser) c.5041A>T (p.Thr1681Ser) c.4858A>T (p.Thr1620Ser) c.4579A>T (p.Thr1527Ser) c.3622A>T (p.Thr1208Ser) c.3613A>T (p.Thr1205Ser) | |
| 5 | g.37020789C>A | CA359487829 | NIPBL | c.5240C>A (p.Thr1747Asn) c.1-43789C>A (n.1-43789C>A) c.4496C>A (p.Thr1499Asn) c.5042C>A (p.Thr1681Asn) c.4859C>A (p.Thr1620Asn) c.4580C>A (p.Thr1527Asn) c.3623C>A (p.Thr1208Asn) c.3614C>A (p.Thr1205Asn) | |
| 5 | g.37020789C>G | CA359487832 | NIPBL | c.5240C>G (p.Thr1747Ser) c.1-43789C>G (n.1-43789C>G) c.4496C>G (p.Thr1499Ser) c.5042C>G (p.Thr1681Ser) c.4859C>G (p.Thr1620Ser) c.4580C>G (p.Thr1527Ser) c.3623C>G (p.Thr1208Ser) c.3614C>G (p.Thr1205Ser) | gnomAD v4 |
| 5 | g.37020789C>T | CA359487834 | NIPBL | c.5240C>T (p.Thr1747Ile) c.1-43789C>T (n.1-43789C>T) c.4496C>T (p.Thr1499Ile) c.5042C>T (p.Thr1681Ile) c.4859C>T (p.Thr1620Ile) c.4580C>T (p.Thr1527Ile) c.3623C>T (p.Thr1208Ile) c.3614C>T (p.Thr1205Ile) | gnomAD v4 COSMIC COSMIC |
| 5 | g.37020790T>A | CA443905161 | NIPBL | c.5241T>A (p.Thr1747=) c.1-43788T>A (n.1-43788T>A) c.4497T>A (p.Thr1499=) c.5043T>A (p.Thr1681=) c.4860T>A (p.Thr1620=) c.4581T>A (p.Thr1527=) c.3624T>A (p.Thr1208=) c.3615T>A (p.Thr1205=) | gnomAD v4 |
| 5 | g.37020790T>C | CA3236737 | NIPBL | c.5241T>C (p.Thr1747=) c.1-43788T>C (n.1-43788T>C) c.4497T>C (p.Thr1499=) c.5043T>C (p.Thr1681=) c.4860T>C (p.Thr1620=) c.4581T>C (p.Thr1527=) c.3624T>C (p.Thr1208=) c.3615T>C (p.Thr1205=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020790T>G | CA3236736 | NIPBL | c.5241T>G (p.Thr1747=) c.1-43788T>G (n.1-43788T>G) c.4497T>G (p.Thr1499=) c.5043T>G (p.Thr1681=) c.4860T>G (p.Thr1620=) c.4581T>G (p.Thr1527=) c.3624T>G (p.Thr1208=) c.3615T>G (p.Thr1205=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020790T= | CA1539584533 | NIPBL | c.5241T= (p.Thr1747=) c.1-43788T= (n.1-43788T=) c.4497T= (p.Thr1499=) c.5043T= (p.Thr1681=) c.4860T= (p.Thr1620=) c.4581T= (p.Thr1527=) c.3624T= (p.Thr1208=) c.3615T= (p.Thr1205=) | |
| 5 | g.37020791G>A | CA359487839 | NIPBL | c.5242G>A (p.Val1748Met) c.1-43787G>A (n.1-43787G>A) c.4498G>A (p.Val1500Met) c.5044G>A (p.Val1682Met) c.4861G>A (p.Val1621Met) c.4582G>A (p.Val1528Met) c.3625G>A (p.Val1209Met) c.3616G>A (p.Val1206Met) | |
| 5 | g.37020791G>C | CA359487844 | NIPBL | c.5242G>C (p.Val1748Leu) c.1-43787G>C (n.1-43787G>C) c.4498G>C (p.Val1500Leu) c.5044G>C (p.Val1682Leu) c.4861G>C (p.Val1621Leu) c.4582G>C (p.Val1528Leu) c.3625G>C (p.Val1209Leu) c.3616G>C (p.Val1206Leu) | |
| 5 | g.37020791G>T | CA359487842 | NIPBL | c.5242G>T (p.Val1748Leu) c.1-43787G>T (n.1-43787G>T) c.4498G>T (p.Val1500Leu) c.5044G>T (p.Val1682Leu) c.4861G>T (p.Val1621Leu) c.4582G>T (p.Val1528Leu) c.3625G>T (p.Val1209Leu) c.3616G>T (p.Val1206Leu) | |
| 5 | g.37020792T>A | CA359487846 | NIPBL | c.5243T>A (p.Val1748Glu) c.1-43786T>A (n.1-43786T>A) c.4499T>A (p.Val1500Glu) c.5045T>A (p.Val1682Glu) c.4862T>A (p.Val1621Glu) c.4583T>A (p.Val1528Glu) c.3626T>A (p.Val1209Glu) c.3617T>A (p.Val1206Glu) | gnomAD v4 |
| 5 | g.37020792T>C | CA359487848 | NIPBL | c.5243T>C (p.Val1748Ala) c.1-43786T>C (n.1-43786T>C) c.4499T>C (p.Val1500Ala) c.5045T>C (p.Val1682Ala) c.4862T>C (p.Val1621Ala) c.4583T>C (p.Val1528Ala) c.3626T>C (p.Val1209Ala) c.3617T>C (p.Val1206Ala) | |
| 5 | g.37020792T>G | CA359487847 | NIPBL | c.5243T>G (p.Val1748Gly) c.1-43786T>G (n.1-43786T>G) c.4499T>G (p.Val1500Gly) c.5045T>G (p.Val1682Gly) c.4862T>G (p.Val1621Gly) c.4583T>G (p.Val1528Gly) c.3626T>G (p.Val1209Gly) c.3617T>G (p.Val1206Gly) | |
| 5 | g.37020793G>A | CA443905165 | NIPBL | c.5244G>A (p.Val1748=) c.1-43785G>A (n.1-43785G>A) c.4500G>A (p.Val1500=) c.5046G>A (p.Val1682=) c.4863G>A (p.Val1621=) c.4584G>A (p.Val1528=) c.3627G>A (p.Val1209=) c.3618G>A (p.Val1206=) | |
| 5 | g.37020793G>C | CA443905166 | NIPBL | c.5244G>C (p.Val1748=) c.1-43785G>C (n.1-43785G>C) c.4500G>C (p.Val1500=) c.5046G>C (p.Val1682=) c.4863G>C (p.Val1621=) c.4584G>C (p.Val1528=) c.3627G>C (p.Val1209=) c.3618G>C (p.Val1206=) | |
| 5 | g.37020793G>T | CA443905167 | NIPBL | c.5244G>T (p.Val1748=) c.1-43785G>T (n.1-43785G>T) c.4500G>T (p.Val1500=) c.5046G>T (p.Val1682=) c.4863G>T (p.Val1621=) c.4584G>T (p.Val1528=) c.3627G>T (p.Val1209=) c.3618G>T (p.Val1206=) | |
| 5 | g.37020794G>A | CA3236738 | NIPBL | c.5245G>A (p.Asp1749Asn) c.1-43784G>A (n.1-43784G>A) c.4501G>A (p.Asp1501Asn) c.5047G>A (p.Asp1683Asn) c.4864G>A (p.Asp1622Asn) c.4585G>A (p.Asp1529Asn) c.3628G>A (p.Asp1210Asn) c.3619G>A (p.Asp1207Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020794G>C | CA359487853 | NIPBL | c.5245G>C (p.Asp1749His) c.1-43784G>C (n.1-43784G>C) c.4501G>C (p.Asp1501His) c.5047G>C (p.Asp1683His) c.4864G>C (p.Asp1622His) c.4585G>C (p.Asp1529His) c.3628G>C (p.Asp1210His) c.3619G>C (p.Asp1207His) | |
| 5 | g.37020794G= | CA1539584541 | NIPBL | c.5245G= (p.Asp1749=) c.1-43784G= (n.1-43784G=) c.4501G= (p.Asp1501=) c.5047G= (p.Asp1683=) c.4864G= (p.Asp1622=) c.4585G= (p.Asp1529=) c.3628G= (p.Asp1210=) c.3619G= (p.Asp1207=) | |
| 5 | g.37020794G>T | CA359487857 | NIPBL | c.5245G>T (p.Asp1749Tyr) c.1-43784G>T (n.1-43784G>T) c.4501G>T (p.Asp1501Tyr) c.5047G>T (p.Asp1683Tyr) c.4864G>T (p.Asp1622Tyr) c.4585G>T (p.Asp1529Tyr) c.3628G>T (p.Asp1210Tyr) c.3619G>T (p.Asp1207Tyr) | |
| 5 | g.37020795A>C | CA359487862 | NIPBL | c.5246A>C (p.Asp1749Ala) c.1-43783A>C (n.1-43783A>C) c.4502A>C (p.Asp1501Ala) c.5048A>C (p.Asp1683Ala) c.4865A>C (p.Asp1622Ala) c.4586A>C (p.Asp1529Ala) c.3629A>C (p.Asp1210Ala) c.3620A>C (p.Asp1207Ala) | |
| 5 | g.37020795A>G | CA359487870 | NIPBL | c.5246A>G (p.Asp1749Gly) c.1-43783A>G (n.1-43783A>G) c.4502A>G (p.Asp1501Gly) c.5048A>G (p.Asp1683Gly) c.4865A>G (p.Asp1622Gly) c.4586A>G (p.Asp1529Gly) c.3629A>G (p.Asp1210Gly) c.3620A>G (p.Asp1207Gly) | |
| 5 | g.37020795A>T | CA359487874 | NIPBL | c.5246A>T (p.Asp1749Val) c.1-43783A>T (n.1-43783A>T) c.4502A>T (p.Asp1501Val) c.5048A>T (p.Asp1683Val) c.4865A>T (p.Asp1622Val) c.4586A>T (p.Asp1529Val) c.3629A>T (p.Asp1210Val) c.3620A>T (p.Asp1207Val) | |
| 5 | g.37020796C>A | CA359487876 | NIPBL | c.5247C>A (p.Asp1749Glu) c.1-43782C>A (n.1-43782C>A) c.4503C>A (p.Asp1501Glu) c.5049C>A (p.Asp1683Glu) c.4866C>A (p.Asp1622Glu) c.4587C>A (p.Asp1529Glu) c.3630C>A (p.Asp1210Glu) c.3621C>A (p.Asp1207Glu) | |
| 5 | g.37020796C= | CA1539584561 | NIPBL | c.5247C= (p.Asp1749=) c.1-43782C= (n.1-43782C=) c.4503C= (p.Asp1501=) c.5049C= (p.Asp1683=) c.4866C= (p.Asp1622=) c.4587C= (p.Asp1529=) c.3630C= (p.Asp1210=) c.3621C= (p.Asp1207=) | |
| 5 | g.37020796C>G | CA359487878 | NIPBL | c.5247C>G (p.Asp1749Glu) c.1-43782C>G (n.1-43782C>G) c.4503C>G (p.Asp1501Glu) c.5049C>G (p.Asp1683Glu) c.4866C>G (p.Asp1622Glu) c.4587C>G (p.Asp1529Glu) c.3630C>G (p.Asp1210Glu) c.3621C>G (p.Asp1207Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37020796C>T | CA443905171 | NIPBL | c.5247C>T (p.Asp1749=) c.1-43782C>T (n.1-43782C>T) c.4503C>T (p.Asp1501=) c.5049C>T (p.Asp1683=) c.4866C>T (p.Asp1622=) c.4587C>T (p.Asp1529=) c.3630C>T (p.Asp1210=) c.3621C>T (p.Asp1207=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020797T>A | CA359487883 | NIPBL | c.5248T>A (p.Tyr1750Asn) c.1-43781T>A (n.1-43781T>A) c.4504T>A (p.Tyr1502Asn) c.5050T>A (p.Tyr1684Asn) c.4867T>A (p.Tyr1623Asn) c.4588T>A (p.Tyr1530Asn) c.3631T>A (p.Tyr1211Asn) c.3622T>A (p.Tyr1208Asn) | |
| 5 | g.37020797T>C | CA359487889 | NIPBL | c.5248T>C (p.Tyr1750His) c.1-43781T>C (n.1-43781T>C) c.4504T>C (p.Tyr1502His) c.5050T>C (p.Tyr1684His) c.4867T>C (p.Tyr1623His) c.4588T>C (p.Tyr1530His) c.3631T>C (p.Tyr1211His) c.3622T>C (p.Tyr1208His) | gnomAD v4 |
| 5 | g.37020797T>G | CA359487892 | NIPBL | c.5248T>G (p.Tyr1750Asp) c.1-43781T>G (n.1-43781T>G) c.4504T>G (p.Tyr1502Asp) c.5050T>G (p.Tyr1684Asp) c.4867T>G (p.Tyr1623Asp) c.4588T>G (p.Tyr1530Asp) c.3631T>G (p.Tyr1211Asp) c.3622T>G (p.Tyr1208Asp) | |
| 5 | g.37020798A= | CA1539584572 | NIPBL | c.5249A= (p.Tyr1750=) c.1-43780A= (n.1-43780A=) c.4505A= (p.Tyr1502=) c.5051A= (p.Tyr1684=) c.4868A= (p.Tyr1623=) c.4589A= (p.Tyr1530=) c.3632A= (p.Tyr1211=) c.3623A= (p.Tyr1208=) | |
| 5 | g.37020798A>C | CA359487899 | NIPBL | c.5249A>C (p.Tyr1750Ser) c.1-43780A>C (n.1-43780A>C) c.4505A>C (p.Tyr1502Ser) c.5051A>C (p.Tyr1684Ser) c.4868A>C (p.Tyr1623Ser) c.4589A>C (p.Tyr1530Ser) c.3632A>C (p.Tyr1211Ser) c.3623A>C (p.Tyr1208Ser) | |
| 5 | g.37020798A>G | CA242800 | NIPBL | c.5249A>G (p.Tyr1750Cys) c.1-43780A>G (n.1-43780A>G) c.4505A>G (p.Tyr1502Cys) c.5051A>G (p.Tyr1684Cys) c.4868A>G (p.Tyr1623Cys) c.4589A>G (p.Tyr1530Cys) c.3632A>G (p.Tyr1211Cys) c.3623A>G (p.Tyr1208Cys) | ClinVar dbSNP ExAC |
| 5 | g.37020798A>T | CA117028138 | NIPBL | c.5249A>T (p.Tyr1750Phe) c.1-43780A>T (n.1-43780A>T) c.4505A>T (p.Tyr1502Phe) c.5051A>T (p.Tyr1684Phe) c.4868A>T (p.Tyr1623Phe) c.4589A>T (p.Tyr1530Phe) c.3632A>T (p.Tyr1211Phe) c.3623A>T (p.Tyr1208Phe) | dbSNP |
| 5 | g.37020799T>A | CA359487903 | NIPBL | c.5250T>A (p.Tyr1750Ter) c.1-43779T>A (n.1-43779T>A) c.4506T>A (p.Tyr1502Ter) c.5052T>A (p.Tyr1684Ter) c.4869T>A (p.Tyr1623Ter) c.4590T>A (p.Tyr1530Ter) c.3633T>A (p.Tyr1211Ter) c.3624T>A (p.Tyr1208Ter) | |
| 5 | g.37020799T>C | CA443905176 | NIPBL | c.5250T>C (p.Tyr1750=) c.1-43779T>C (n.1-43779T>C) c.4506T>C (p.Tyr1502=) c.5052T>C (p.Tyr1684=) c.4869T>C (p.Tyr1623=) c.4590T>C (p.Tyr1530=) c.3633T>C (p.Tyr1211=) c.3624T>C (p.Tyr1208=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.37020799T>G | CA359487904 | NIPBL | c.5250T>G (p.Tyr1750Ter) c.1-43779T>G (n.1-43779T>G) c.4506T>G (p.Tyr1502Ter) c.5052T>G (p.Tyr1684Ter) c.4869T>G (p.Tyr1623Ter) c.4590T>G (p.Tyr1530Ter) c.3633T>G (p.Tyr1211Ter) c.3624T>G (p.Tyr1208Ter) | |
| 5 | g.37020799T= | CA1539584590 | NIPBL | c.5250T= (p.Tyr1750=) c.1-43779T= (n.1-43779T=) c.4506T= (p.Tyr1502=) c.5052T= (p.Tyr1684=) c.4869T= (p.Tyr1623=) c.4590T= (p.Tyr1530=) c.3633T= (p.Tyr1211=) c.3624T= (p.Tyr1208=) | |
| 5 | g.37020800G>A | CA359487908 | NIPBL | c.5251G>A (p.Asp1751Asn) c.1-43778G>A (n.1-43778G>A) c.4507G>A (p.Asp1503Asn) c.5053G>A (p.Asp1685Asn) c.4870G>A (p.Asp1624Asn) c.4591G>A (p.Asp1531Asn) c.3634G>A (p.Asp1212Asn) c.3625G>A (p.Asp1209Asn) | COSMIC COSMIC |
| 5 | g.37020800G>C | CA359487912 | NIPBL | c.5251G>C (p.Asp1751His) c.1-43778G>C (n.1-43778G>C) c.4507G>C (p.Asp1503His) c.5053G>C (p.Asp1685His) c.4870G>C (p.Asp1624His) c.4591G>C (p.Asp1531His) c.3634G>C (p.Asp1212His) c.3625G>C (p.Asp1209His) | |
| 5 | g.37020800G>T | CA359487913 | NIPBL | c.5251G>T (p.Asp1751Tyr) c.1-43778G>T (n.1-43778G>T) c.4507G>T (p.Asp1503Tyr) c.5053G>T (p.Asp1685Tyr) c.4870G>T (p.Asp1624Tyr) c.4591G>T (p.Asp1531Tyr) c.3634G>T (p.Asp1212Tyr) c.3625G>T (p.Asp1209Tyr) | |
| 5 | g.37020801A>C | CA359487914 | NIPBL | c.5252A>C (p.Asp1751Ala) c.1-43777A>C (n.1-43777A>C) c.4508A>C (p.Asp1503Ala) c.5054A>C (p.Asp1685Ala) c.4871A>C (p.Asp1624Ala) c.4592A>C (p.Asp1531Ala) c.3635A>C (p.Asp1212Ala) c.3626A>C (p.Asp1209Ala) | |
| 5 | g.37020801A>G | CA359487915 | NIPBL | c.5252A>G (p.Asp1751Gly) c.1-43777A>G (n.1-43777A>G) c.4508A>G (p.Asp1503Gly) c.5054A>G (p.Asp1685Gly) c.4871A>G (p.Asp1624Gly) c.4592A>G (p.Asp1531Gly) c.3635A>G (p.Asp1212Gly) c.3626A>G (p.Asp1209Gly) | |
| 5 | g.37020801A>T | CA359487916 | NIPBL | c.5252A>T (p.Asp1751Val) c.1-43777A>T (n.1-43777A>T) c.4508A>T (p.Asp1503Val) c.5054A>T (p.Asp1685Val) c.4871A>T (p.Asp1624Val) c.4592A>T (p.Asp1531Val) c.3635A>T (p.Asp1212Val) c.3626A>T (p.Asp1209Val) | |
| 5 | g.37020802T>A | CA359487917 | NIPBL | c.5253T>A (p.Asp1751Glu) c.1-43776T>A (n.1-43776T>A) c.4509T>A (p.Asp1503Glu) c.5055T>A (p.Asp1685Glu) c.4872T>A (p.Asp1624Glu) c.4593T>A (p.Asp1531Glu) c.3636T>A (p.Asp1212Glu) c.3627T>A (p.Asp1209Glu) | |
| 5 | g.37020802T>C | CA443905179 | NIPBL | c.5253T>C (p.Asp1751=) c.1-43776T>C (n.1-43776T>C) c.4509T>C (p.Asp1503=) c.5055T>C (p.Asp1685=) c.4872T>C (p.Asp1624=) c.4593T>C (p.Asp1531=) c.3636T>C (p.Asp1212=) c.3627T>C (p.Asp1209=) | |
| 5 | g.37020802T>G | CA359487918 | NIPBL | c.5253T>G (p.Asp1751Glu) c.1-43776T>G (n.1-43776T>G) c.4509T>G (p.Asp1503Glu) c.5055T>G (p.Asp1685Glu) c.4872T>G (p.Asp1624Glu) c.4593T>G (p.Asp1531Glu) c.3636T>G (p.Asp1212Glu) c.3627T>G (p.Asp1209Glu) | |
| 5 | g.37020803G>A | CA3236739 | NIPBL | c.5254G>A (p.Asp1752Asn) c.1-43775G>A (n.1-43775G>A) c.4510G>A (p.Asp1504Asn) c.5056G>A (p.Asp1686Asn) c.4873G>A (p.Asp1625Asn) c.4594G>A (p.Asp1532Asn) c.3637G>A (p.Asp1213Asn) c.3628G>A (p.Asp1210Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 5 | g.37020803G>C | CA359487930 | NIPBL | c.5254G>C (p.Asp1752His) c.1-43775G>C (n.1-43775G>C) c.4510G>C (p.Asp1504His) c.5056G>C (p.Asp1686His) c.4873G>C (p.Asp1625His) c.4594G>C (p.Asp1532His) c.3637G>C (p.Asp1213His) c.3628G>C (p.Asp1210His) | |
| 5 | g.37020803G= | CA1539584596 | NIPBL | c.5254G= (p.Asp1752=) c.1-43775G= (n.1-43775G=) c.4510G= (p.Asp1504=) c.5056G= (p.Asp1686=) c.4873G= (p.Asp1625=) c.4594G= (p.Asp1532=) c.3637G= (p.Asp1213=) c.3628G= (p.Asp1210=) | |
| 5 | g.37020803G>T | CA359487925 | NIPBL | c.5254G>T (p.Asp1752Tyr) c.1-43775G>T (n.1-43775G>T) c.4510G>T (p.Asp1504Tyr) c.5056G>T (p.Asp1686Tyr) c.4873G>T (p.Asp1625Tyr) c.4594G>T (p.Asp1532Tyr) c.3637G>T (p.Asp1213Tyr) c.3628G>T (p.Asp1210Tyr) | |
| 5 | g.37020804A>C | CA359487936 | NIPBL | c.5255A>C (p.Asp1752Ala) c.1-43774A>C (n.1-43774A>C) c.4511A>C (p.Asp1504Ala) c.5057A>C (p.Asp1686Ala) c.4874A>C (p.Asp1625Ala) c.4595A>C (p.Asp1532Ala) c.3638A>C (p.Asp1213Ala) c.3629A>C (p.Asp1210Ala) | |
| 5 | g.37020804A>G | CA359487949 | NIPBL | c.5255A>G (p.Asp1752Gly) c.1-43774A>G (n.1-43774A>G) c.4511A>G (p.Asp1504Gly) c.5057A>G (p.Asp1686Gly) c.4874A>G (p.Asp1625Gly) c.4595A>G (p.Asp1532Gly) c.3638A>G (p.Asp1213Gly) c.3629A>G (p.Asp1210Gly) | |
| 5 | g.37020804A>T | CA359487954 | NIPBL | c.5255A>T (p.Asp1752Val) c.1-43774A>T (n.1-43774A>T) c.4511A>T (p.Asp1504Val) c.5057A>T (p.Asp1686Val) c.4874A>T (p.Asp1625Val) c.4595A>T (p.Asp1532Val) c.3638A>T (p.Asp1213Val) c.3629A>T (p.Asp1210Val) | |
| 5 | g.37020805T>A | CA359487957 | NIPBL | c.5256T>A (p.Asp1752Glu) c.1-43773T>A (n.1-43773T>A) c.4512T>A (p.Asp1504Glu) c.5058T>A (p.Asp1686Glu) c.4875T>A (p.Asp1625Glu) c.4596T>A (p.Asp1532Glu) c.3639T>A (p.Asp1213Glu) c.3630T>A (p.Asp1210Glu) | |
| 5 | g.37020805T>C | CA443905183 | NIPBL | c.5256T>C (p.Asp1752=) c.1-43773T>C (n.1-43773T>C) c.4512T>C (p.Asp1504=) c.5058T>C (p.Asp1686=) c.4875T>C (p.Asp1625=) c.4596T>C (p.Asp1532=) c.3639T>C (p.Asp1213=) c.3630T>C (p.Asp1210=) | |
| 5 | g.37020805T>G | CA359487963 | NIPBL | c.5256T>G (p.Asp1752Glu) c.1-43773T>G (n.1-43773T>G) c.4512T>G (p.Asp1504Glu) c.5058T>G (p.Asp1686Glu) c.4875T>G (p.Asp1625Glu) c.4596T>G (p.Asp1532Glu) c.3639T>G (p.Asp1213Glu) c.3630T>G (p.Asp1210Glu) | |
| 5 | g.37020806G>A | CA359487991 | NIPBL | c.5257G>A (p.Ala1753Thr) c.1-43772G>A (n.1-43772G>A) c.4513G>A (p.Ala1505Thr) c.5059G>A (p.Ala1687Thr) c.4876G>A (p.Ala1626Thr) c.4597G>A (p.Ala1533Thr) c.3640G>A (p.Ala1214Thr) c.3631G>A (p.Ala1211Thr) | |
| 5 | g.37020806G>C | CA359487990 | NIPBL | c.5257G>C (p.Ala1753Pro) c.1-43772G>C (n.1-43772G>C) c.4513G>C (p.Ala1505Pro) c.5059G>C (p.Ala1687Pro) c.4876G>C (p.Ala1626Pro) c.4597G>C (p.Ala1533Pro) c.3640G>C (p.Ala1214Pro) c.3631G>C (p.Ala1211Pro) | |
| 5 | g.37020806G>T | CA359487965 | NIPBL | c.5257G>T (p.Ala1753Ser) c.1-43772G>T (n.1-43772G>T) c.4513G>T (p.Ala1505Ser) c.5059G>T (p.Ala1687Ser) c.4876G>T (p.Ala1626Ser) c.4597G>T (p.Ala1533Ser) c.3640G>T (p.Ala1214Ser) c.3631G>T (p.Ala1211Ser) | |
| 5 | g.37020807C>A | CA359487994 | NIPBL | c.5258C>A (p.Ala1753Asp) c.1-43771C>A (n.1-43771C>A) c.4514C>A (p.Ala1505Asp) c.5060C>A (p.Ala1687Asp) c.4877C>A (p.Ala1626Asp) c.4598C>A (p.Ala1533Asp) c.3641C>A (p.Ala1214Asp) c.3632C>A (p.Ala1211Asp) | |
| 5 | g.37020807C= | CA1539584616 | NIPBL | c.5258C= (p.Ala1753=) c.1-43771C= (n.1-43771C=) c.4514C= (p.Ala1505=) c.5060C= (p.Ala1687=) c.4877C= (p.Ala1626=) c.4598C= (p.Ala1533=) c.3641C= (p.Ala1214=) c.3632C= (p.Ala1211=) | |
| 5 | g.37020807C>G | CA117028141 | NIPBL | c.5258C>G (p.Ala1753Gly) c.1-43771C>G (n.1-43771C>G) c.4514C>G (p.Ala1505Gly) c.5060C>G (p.Ala1687Gly) c.4877C>G (p.Ala1626Gly) c.4598C>G (p.Ala1533Gly) c.3641C>G (p.Ala1214Gly) c.3632C>G (p.Ala1211Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020807C>T | CA359488004 | NIPBL | c.5258C>T (p.Ala1753Val) c.1-43771C>T (n.1-43771C>T) c.4514C>T (p.Ala1505Val) c.5060C>T (p.Ala1687Val) c.4877C>T (p.Ala1626Val) c.4598C>T (p.Ala1533Val) c.3641C>T (p.Ala1214Val) c.3632C>T (p.Ala1211Val) | |
| 5 | g.37020808T>A | CA443905187 | NIPBL | c.5259T>A (p.Ala1753=) c.1-43770T>A (n.1-43770T>A) c.4515T>A (p.Ala1505=) c.5061T>A (p.Ala1687=) c.4878T>A (p.Ala1626=) c.4599T>A (p.Ala1533=) c.3642T>A (p.Ala1214=) c.3633T>A (p.Ala1211=) | gnomAD v4 |
| 5 | g.37020808T>C | CA443905189 | NIPBL | c.5259T>C (p.Ala1753=) c.1-43770T>C (n.1-43770T>C) c.4515T>C (p.Ala1505=) c.5061T>C (p.Ala1687=) c.4878T>C (p.Ala1626=) c.4599T>C (p.Ala1533=) c.3642T>C (p.Ala1214=) c.3633T>C (p.Ala1211=) | |
| 5 | g.37020808T>G | CA443905190 | NIPBL | c.5259T>G (p.Ala1753=) c.1-43770T>G (n.1-43770T>G) c.4515T>G (p.Ala1505=) c.5061T>G (p.Ala1687=) c.4878T>G (p.Ala1626=) c.4599T>G (p.Ala1533=) c.3642T>G (p.Ala1214=) c.3633T>G (p.Ala1211=) | |
| 5 | g.37020809T>A | CA359488006 | NIPBL | c.5260T>A (p.Cys1754Ser) c.1-43769T>A (n.1-43769T>A) c.4516T>A (p.Cys1506Ser) c.5062T>A (p.Cys1688Ser) c.4879T>A (p.Cys1627Ser) c.4600T>A (p.Cys1534Ser) c.3643T>A (p.Cys1215Ser) c.3634T>A (p.Cys1212Ser) | |
| 5 | g.37020809T>C | CA359488015 | NIPBL | c.5260T>C (p.Cys1754Arg) c.1-43769T>C (n.1-43769T>C) c.4516T>C (p.Cys1506Arg) c.5062T>C (p.Cys1688Arg) c.4879T>C (p.Cys1627Arg) c.4600T>C (p.Cys1534Arg) c.3643T>C (p.Cys1215Arg) c.3634T>C (p.Cys1212Arg) | |
| 5 | g.37020809T>G | CA359488017 | NIPBL | c.5260T>G (p.Cys1754Gly) c.1-43769T>G (n.1-43769T>G) c.4516T>G (p.Cys1506Gly) c.5062T>G (p.Cys1688Gly) c.4879T>G (p.Cys1627Gly) c.4600T>G (p.Cys1534Gly) c.3643T>G (p.Cys1215Gly) c.3634T>G (p.Cys1212Gly) | |
| 5 | g.37020810G>A | CA359488020 | NIPBL | c.5261G>A (p.Cys1754Tyr) c.1-43768G>A (n.1-43768G>A) c.4517G>A (p.Cys1506Tyr) c.5063G>A (p.Cys1688Tyr) c.4880G>A (p.Cys1627Tyr) c.4601G>A (p.Cys1534Tyr) c.3644G>A (p.Cys1215Tyr) c.3635G>A (p.Cys1212Tyr) | |
| 5 | g.37020810G>C | CA359488026 | NIPBL | c.5261G>C (p.Cys1754Ser) c.1-43768G>C (n.1-43768G>C) c.4517G>C (p.Cys1506Ser) c.5063G>C (p.Cys1688Ser) c.4880G>C (p.Cys1627Ser) c.4601G>C (p.Cys1534Ser) c.3644G>C (p.Cys1215Ser) c.3635G>C (p.Cys1212Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020810G= | CA1539584633 | NIPBL | c.5261G= (p.Cys1754=) c.1-43768G= (n.1-43768G=) c.4517G= (p.Cys1506=) c.5063G= (p.Cys1688=) c.4880G= (p.Cys1627=) c.4601G= (p.Cys1534=) c.3644G= (p.Cys1215=) c.3635G= (p.Cys1212=) | |
| 5 | g.37020810G>T | CA359488025 | NIPBL | c.5261G>T (p.Cys1754Phe) c.1-43768G>T (n.1-43768G>T) c.4517G>T (p.Cys1506Phe) c.5063G>T (p.Cys1688Phe) c.4880G>T (p.Cys1627Phe) c.4601G>T (p.Cys1534Phe) c.3644G>T (p.Cys1215Phe) c.3635G>T (p.Cys1212Phe) | |
| 5 | g.37020811C>A | CA359488029 | NIPBL | c.5262C>A (p.Cys1754Ter) c.1-43767C>A (n.1-43767C>A) c.4518C>A (p.Cys1506Ter) c.5064C>A (p.Cys1688Ter) c.4881C>A (p.Cys1627Ter) c.4602C>A (p.Cys1534Ter) c.3645C>A (p.Cys1215Ter) c.3636C>A (p.Cys1212Ter) | ClinVar dbSNP |
| 5 | g.37020811C= | CA1539584641 | NIPBL | c.5262C= (p.Cys1754=) c.1-43767C= (n.1-43767C=) c.4518C= (p.Cys1506=) c.5064C= (p.Cys1688=) c.4881C= (p.Cys1627=) c.4602C= (p.Cys1534=) c.3645C= (p.Cys1215=) c.3636C= (p.Cys1212=) | |
| 5 | g.37020811C>G | CA359488032 | NIPBL | c.5262C>G (p.Cys1754Trp) c.1-43767C>G (n.1-43767C>G) c.4518C>G (p.Cys1506Trp) c.5064C>G (p.Cys1688Trp) c.4881C>G (p.Cys1627Trp) c.4602C>G (p.Cys1534Trp) c.3645C>G (p.Cys1215Trp) c.3636C>G (p.Cys1212Trp) | |
| 5 | g.37020811C>T | CA443905192 | NIPBL | c.5262C>T (p.Cys1754=) c.1-43767C>T (n.1-43767C>T) c.4518C>T (p.Cys1506=) c.5064C>T (p.Cys1688=) c.4881C>T (p.Cys1627=) c.4602C>T (p.Cys1534=) c.3645C>T (p.Cys1215=) c.3636C>T (p.Cys1212=) | |
| 5 | g.37020812T>A | CA359488033 | NIPBL | c.5263T>A (p.Leu1755Met) c.1-43766T>A (n.1-43766T>A) c.4519T>A (p.Leu1507Met) c.5065T>A (p.Leu1689Met) c.4882T>A (p.Leu1628Met) c.4603T>A (p.Leu1535Met) c.3646T>A (p.Leu1216Met) c.3637T>A (p.Leu1213Met) | |
| 5 | g.37020812T>C | CA443905193 | NIPBL | c.5263T>C (p.Leu1755=) c.1-43766T>C (n.1-43766T>C) c.4519T>C (p.Leu1507=) c.5065T>C (p.Leu1689=) c.4882T>C (p.Leu1628=) c.4603T>C (p.Leu1535=) c.3646T>C (p.Leu1216=) c.3637T>C (p.Leu1213=) | |
| 5 | g.37020812T>G | CA359488034 | NIPBL | c.5263T>G (p.Leu1755Val) c.1-43766T>G (n.1-43766T>G) c.4519T>G (p.Leu1507Val) c.5065T>G (p.Leu1689Val) c.4882T>G (p.Leu1628Val) c.4603T>G (p.Leu1535Val) c.3646T>G (p.Leu1216Val) c.3637T>G (p.Leu1213Val) | |
| 5 | g.37020813T>A | CA359488035 | NIPBL | c.5264T>A (p.Leu1755Ter) c.1-43765T>A (n.1-43765T>A) c.4520T>A (p.Leu1507Ter) c.5066T>A (p.Leu1689Ter) c.4883T>A (p.Leu1628Ter) c.4604T>A (p.Leu1535Ter) c.3647T>A (p.Leu1216Ter) c.3638T>A (p.Leu1213Ter) | |
| 5 | g.37020813T>C | CA359488038 | NIPBL | c.5264T>C (p.Leu1755Ser) c.1-43765T>C (n.1-43765T>C) c.4520T>C (p.Leu1507Ser) c.5066T>C (p.Leu1689Ser) c.4883T>C (p.Leu1628Ser) c.4604T>C (p.Leu1535Ser) c.3647T>C (p.Leu1216Ser) c.3638T>C (p.Leu1213Ser) | |
| 5 | g.37020813T>G | CA359488039 | NIPBL | c.5264T>G (p.Leu1755Trp) c.1-43765T>G (n.1-43765T>G) c.4520T>G (p.Leu1507Trp) c.5066T>G (p.Leu1689Trp) c.4883T>G (p.Leu1628Trp) c.4604T>G (p.Leu1535Trp) c.3647T>G (p.Leu1216Trp) c.3638T>G (p.Leu1213Trp) | |
| 5 | g.37020814G>A | CA443905195 | NIPBL | c.5265G>A (p.Leu1755=) c.1-43764G>A (n.1-43764G>A) c.4521G>A (p.Leu1507=) c.5067G>A (p.Leu1689=) c.4884G>A (p.Leu1628=) c.4605G>A (p.Leu1535=) c.3648G>A (p.Leu1216=) c.3639G>A (p.Leu1213=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020814G>C | CA359488046 | NIPBL | c.5265G>C (p.Leu1755Phe) c.1-43764G>C (n.1-43764G>C) c.4521G>C (p.Leu1507Phe) c.5067G>C (p.Leu1689Phe) c.4884G>C (p.Leu1628Phe) c.4605G>C (p.Leu1535Phe) c.3648G>C (p.Leu1216Phe) c.3639G>C (p.Leu1213Phe) | |
| 5 | g.37020814G= | CA1539584652 | NIPBL | c.5265G= (p.Leu1755=) c.1-43764G= (n.1-43764G=) c.4521G= (p.Leu1507=) c.5067G= (p.Leu1689=) c.4884G= (p.Leu1628=) c.4605G= (p.Leu1535=) c.3648G= (p.Leu1216=) c.3639G= (p.Leu1213=) | |
| 5 | g.37020814G>T | CA359488047 | NIPBL | c.5265G>T (p.Leu1755Phe) c.1-43764G>T (n.1-43764G>T) c.4521G>T (p.Leu1507Phe) c.5067G>T (p.Leu1689Phe) c.4884G>T (p.Leu1628Phe) c.4605G>T (p.Leu1535Phe) c.3648G>T (p.Leu1216Phe) c.3639G>T (p.Leu1213Phe) | |
| 5 | g.37020815A>C | CA359488055 | NIPBL | c.5266A>C (p.Ile1756Leu) c.1-43763A>C (n.1-43763A>C) c.4522A>C (p.Ile1508Leu) c.5068A>C (p.Ile1690Leu) c.4885A>C (p.Ile1629Leu) c.4606A>C (p.Ile1536Leu) c.3649A>C (p.Ile1217Leu) c.3640A>C (p.Ile1214Leu) | |
| 5 | g.37020815A>G | CA359488057 | NIPBL | c.5266A>G (p.Ile1756Val) c.1-43763A>G (n.1-43763A>G) c.4522A>G (p.Ile1508Val) c.5068A>G (p.Ile1690Val) c.4885A>G (p.Ile1629Val) c.4606A>G (p.Ile1536Val) c.3649A>G (p.Ile1217Val) c.3640A>G (p.Ile1214Val) | ClinVar |
| 5 | g.37020815A>T | CA359488068 | NIPBL | c.5266A>T (p.Ile1756Phe) c.1-43763A>T (n.1-43763A>T) c.4522A>T (p.Ile1508Phe) c.5068A>T (p.Ile1690Phe) c.4885A>T (p.Ile1629Phe) c.4606A>T (p.Ile1536Phe) c.3649A>T (p.Ile1217Phe) c.3640A>T (p.Ile1214Phe) | |
| 5 | g.37020816T>A | CA359488077 | NIPBL | c.5267T>A (p.Ile1756Asn) c.1-43762T>A (n.1-43762T>A) c.4523T>A (p.Ile1508Asn) c.5069T>A (p.Ile1690Asn) c.4886T>A (p.Ile1629Asn) c.4607T>A (p.Ile1536Asn) c.3650T>A (p.Ile1217Asn) c.3641T>A (p.Ile1214Asn) | |
| 5 | g.37020816T>C | CA359488082 | NIPBL | c.5267T>C (p.Ile1756Thr) c.1-43762T>C (n.1-43762T>C) c.4523T>C (p.Ile1508Thr) c.5069T>C (p.Ile1690Thr) c.4886T>C (p.Ile1629Thr) c.4607T>C (p.Ile1536Thr) c.3650T>C (p.Ile1217Thr) c.3641T>C (p.Ile1214Thr) | gnomAD v4 |
| 5 | g.37020816T>G | CA359488072 | NIPBL | c.5267T>G (p.Ile1756Ser) c.1-43762T>G (n.1-43762T>G) c.4523T>G (p.Ile1508Ser) c.5069T>G (p.Ile1690Ser) c.4886T>G (p.Ile1629Ser) c.4607T>G (p.Ile1536Ser) c.3650T>G (p.Ile1217Ser) c.3641T>G (p.Ile1214Ser) | |
| 5 | g.37020817T>A | CA443905198 | NIPBL | c.5268T>A (p.Ile1756=) c.1-43761T>A (n.1-43761T>A) c.4524T>A (p.Ile1508=) c.5070T>A (p.Ile1690=) c.4887T>A (p.Ile1629=) c.4608T>A (p.Ile1536=) c.3651T>A (p.Ile1217=) c.3642T>A (p.Ile1214=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020817T>C | CA443905199 | NIPBL | c.5268T>C (p.Ile1756=) c.1-43761T>C (n.1-43761T>C) c.4524T>C (p.Ile1508=) c.5070T>C (p.Ile1690=) c.4887T>C (p.Ile1629=) c.4608T>C (p.Ile1536=) c.3651T>C (p.Ile1217=) c.3642T>C (p.Ile1214=) | |
| 5 | g.37020817T>G | CA359488087 | NIPBL | c.5268T>G (p.Ile1756Met) c.1-43761T>G (n.1-43761T>G) c.4524T>G (p.Ile1508Met) c.5070T>G (p.Ile1690Met) c.4887T>G (p.Ile1629Met) c.4608T>G (p.Ile1536Met) c.3651T>G (p.Ile1217Met) c.3642T>G (p.Ile1214Met) | |
| 5 | g.37020817T= | CA1539584662 | NIPBL | c.5268T= (p.Ile1756=) c.1-43761T= (n.1-43761T=) c.4524T= (p.Ile1508=) c.5070T= (p.Ile1690=) c.4887T= (p.Ile1629=) c.4608T= (p.Ile1536=) c.3651T= (p.Ile1217=) c.3642T= (p.Ile1214=) | |
| 5 | g.37020818del | CA2499217839 | NIPBL | c.5269del (p.Val1757PhefsTer7) c.1-43760del (n.1-43760del) c.4525del (p.Val1509PhefsTer7) c.5071del (p.Val1691PhefsTer7) c.4888del (p.Val1630PhefsTer7) c.4609del (p.Val1537PhefsTer7) c.3652del (p.Val1218PhefsTer7) c.3643del (p.Val1215PhefsTer7) | ClinVar dbSNP |
| 5 | g.37020818G>A | CA359488088 | NIPBL | c.5269G>A (p.Val1757Ile) c.1-43760G>A (n.1-43760G>A) c.4525G>A (p.Val1509Ile) c.5071G>A (p.Val1691Ile) c.4888G>A (p.Val1630Ile) c.4609G>A (p.Val1537Ile) c.3652G>A (p.Val1218Ile) c.3643G>A (p.Val1215Ile) | dbSNP |
| 5 | g.37020818G>C | CA359488089 | NIPBL | c.5269G>C (p.Val1757Leu) c.1-43760G>C (n.1-43760G>C) c.4525G>C (p.Val1509Leu) c.5071G>C (p.Val1691Leu) c.4888G>C (p.Val1630Leu) c.4609G>C (p.Val1537Leu) c.3652G>C (p.Val1218Leu) c.3643G>C (p.Val1215Leu) | |
| 5 | g.37020818G= | CA1539584674 | NIPBL | c.5269G= (p.Val1757=) c.1-43760G= (n.1-43760G=) c.4525G= (p.Val1509=) c.5071G= (p.Val1691=) c.4888G= (p.Val1630=) c.4609G= (p.Val1537=) c.3652G= (p.Val1218=) c.3643G= (p.Val1215=) | |
| 5 | g.37020818G>T | CA359488090 | NIPBL | c.5269G>T (p.Val1757Phe) c.1-43760G>T (n.1-43760G>T) c.4525G>T (p.Val1509Phe) c.5071G>T (p.Val1691Phe) c.4888G>T (p.Val1630Phe) c.4609G>T (p.Val1537Phe) c.3652G>T (p.Val1218Phe) c.3643G>T (p.Val1215Phe) | |
| 5 | g.37020819T>A | CA359488091 | NIPBL | c.5270T>A (p.Val1757Asp) c.1-43759T>A (n.1-43759T>A) c.4526T>A (p.Val1509Asp) c.5072T>A (p.Val1691Asp) c.4889T>A (p.Val1630Asp) c.4610T>A (p.Val1537Asp) c.3653T>A (p.Val1218Asp) c.3644T>A (p.Val1215Asp) | |
| 5 | g.37020819T>C | CA359488092 | NIPBL | c.5270T>C (p.Val1757Ala) c.1-43759T>C (n.1-43759T>C) c.4526T>C (p.Val1509Ala) c.5072T>C (p.Val1691Ala) c.4889T>C (p.Val1630Ala) c.4610T>C (p.Val1537Ala) c.3653T>C (p.Val1218Ala) c.3644T>C (p.Val1215Ala) | |
| 5 | g.37020819T>G | CA359488095 | NIPBL | c.5270T>G (p.Val1757Gly) c.1-43759T>G (n.1-43759T>G) c.4526T>G (p.Val1509Gly) c.5072T>G (p.Val1691Gly) c.4889T>G (p.Val1630Gly) c.4610T>G (p.Val1537Gly) c.3653T>G (p.Val1218Gly) c.3644T>G (p.Val1215Gly) | |
| 5 | g.37020820T>A | CA443905203 | NIPBL | c.5271T>A (p.Val1757=) c.1-43758T>A (n.1-43758T>A) c.4527T>A (p.Val1509=) c.5073T>A (p.Val1691=) c.4890T>A (p.Val1630=) c.4611T>A (p.Val1537=) c.3654T>A (p.Val1218=) c.3645T>A (p.Val1215=) | |
| 5 | g.37020820T>C | CA443905205 | NIPBL | c.5271T>C (p.Val1757=) c.1-43758T>C (n.1-43758T>C) c.4527T>C (p.Val1509=) c.5073T>C (p.Val1691=) c.4890T>C (p.Val1630=) c.4611T>C (p.Val1537=) c.3654T>C (p.Val1218=) c.3645T>C (p.Val1215=) | |
| 5 | g.37020820T>G | CA443905204 | NIPBL | c.5271T>G (p.Val1757=) c.1-43758T>G (n.1-43758T>G) c.4527T>G (p.Val1509=) c.5073T>G (p.Val1691=) c.4890T>G (p.Val1630=) c.4611T>G (p.Val1537=) c.3654T>G (p.Val1218=) c.3645T>G (p.Val1215=) | |
| 5 | g.37020821C>A | CA172717 | NIPBL | c.5272C>A (p.Arg1758=) c.1-43757C>A (n.1-43757C>A) c.4528C>A (p.Arg1510=) c.5074C>A (p.Arg1692=) c.4891C>A (p.Arg1631=) c.4612C>A (p.Arg1538=) c.3655C>A (p.Arg1219=) c.3646C>A (p.Arg1216=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020821C= | CA1539584709 | NIPBL | c.5272C= (p.Arg1758=) c.1-43757C= (n.1-43757C=) c.4528C= (p.Arg1510=) c.5074C= (p.Arg1692=) c.4891C= (p.Arg1631=) c.4612C= (p.Arg1538=) c.3655C= (p.Arg1219=) c.3646C= (p.Arg1216=) | |
| 5 | g.37020821C>G | CA359488101 | NIPBL | c.5272C>G (p.Arg1758Gly) c.1-43757C>G (n.1-43757C>G) c.4528C>G (p.Arg1510Gly) c.5074C>G (p.Arg1692Gly) c.4891C>G (p.Arg1631Gly) c.4612C>G (p.Arg1538Gly) c.3655C>G (p.Arg1219Gly) c.3646C>G (p.Arg1216Gly) | gnomAD v4 |
| 5 | g.37020821C>T | CA501202 | NIPBL | c.5272C>T (p.Arg1758Ter) c.1-43757C>T (n.1-43757C>T) c.4528C>T (p.Arg1510Ter) c.5074C>T (p.Arg1692Ter) c.4891C>T (p.Arg1631Ter) c.4612C>T (p.Arg1538Ter) c.3655C>T (p.Arg1219Ter) c.3646C>T (p.Arg1216Ter) | ClinVar COSMIC COSMIC |
| 5 | g.37020822G>A | CA359488119 | NIPBL | c.5273G>A (p.Arg1758Gln) c.1-43756G>A (n.1-43756G>A) c.4529G>A (p.Arg1510Gln) c.5075G>A (p.Arg1692Gln) c.4892G>A (p.Arg1631Gln) c.4613G>A (p.Arg1538Gln) c.3656G>A (p.Arg1219Gln) c.3647G>A (p.Arg1216Gln) | gnomAD v4 COSMIC COSMIC |
| 5 | g.37020822G>C | CA359488121 | NIPBL | c.5273G>C (p.Arg1758Pro) c.1-43756G>C (n.1-43756G>C) c.4529G>C (p.Arg1510Pro) c.5075G>C (p.Arg1692Pro) c.4892G>C (p.Arg1631Pro) c.4613G>C (p.Arg1538Pro) c.3656G>C (p.Arg1219Pro) c.3647G>C (p.Arg1216Pro) | |
| 5 | g.37020822G>T | CA359488124 | NIPBL | c.5273G>T (p.Arg1758Leu) c.1-43756G>T (n.1-43756G>T) c.4529G>T (p.Arg1510Leu) c.5075G>T (p.Arg1692Leu) c.4892G>T (p.Arg1631Leu) c.4613G>T (p.Arg1538Leu) c.3656G>T (p.Arg1219Leu) c.3647G>T (p.Arg1216Leu) | gnomAD v4 |
| 5 | g.37020823A= | CA1539584719 | NIPBL | c.5274A= (p.Arg1758=) c.1-43755A= (n.1-43755A=) c.4530A= (p.Arg1510=) c.5076A= (p.Arg1692=) c.4893A= (p.Arg1631=) c.4614A= (p.Arg1538=) c.3657A= (p.Arg1219=) c.3648A= (p.Arg1216=) | |
| 5 | g.37020823A>C | CA443905207 | NIPBL | c.5274A>C (p.Arg1758=) c.1-43755A>C (n.1-43755A>C) c.4530A>C (p.Arg1510=) c.5076A>C (p.Arg1692=) c.4893A>C (p.Arg1631=) c.4614A>C (p.Arg1538=) c.3657A>C (p.Arg1219=) c.3648A>C (p.Arg1216=) | |
| 5 | g.37020823A>G | CA3236740 | NIPBL | c.5274A>G (p.Arg1758=) c.1-43755A>G (n.1-43755A>G) c.4530A>G (p.Arg1510=) c.5076A>G (p.Arg1692=) c.4893A>G (p.Arg1631=) c.4614A>G (p.Arg1538=) c.3657A>G (p.Arg1219=) c.3648A>G (p.Arg1216=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020823A>T | CA443905208 | NIPBL | c.5274A>T (p.Arg1758=) c.1-43755A>T (n.1-43755A>T) c.4530A>T (p.Arg1510=) c.5076A>T (p.Arg1692=) c.4893A>T (p.Arg1631=) c.4614A>T (p.Arg1538=) c.3657A>T (p.Arg1219=) c.3648A>T (p.Arg1216=) | |
| 5 | g.37020824T>A | CA359488135 | NIPBL | c.5275T>A (p.Tyr1759Asn) c.1-43754T>A (n.1-43754T>A) c.4531T>A (p.Tyr1511Asn) c.5077T>A (p.Tyr1693Asn) c.4894T>A (p.Tyr1632Asn) c.4615T>A (p.Tyr1539Asn) c.3658T>A (p.Tyr1220Asn) c.3649T>A (p.Tyr1217Asn) | |
| 5 | g.37020824T>C | CA359488138 | NIPBL | c.5275T>C (p.Tyr1759His) c.1-43754T>C (n.1-43754T>C) c.4531T>C (p.Tyr1511His) c.5077T>C (p.Tyr1693His) c.4894T>C (p.Tyr1632His) c.4615T>C (p.Tyr1539His) c.3658T>C (p.Tyr1220His) c.3649T>C (p.Tyr1217His) | |
| 5 | g.37020824T>G | CA359488142 | NIPBL | c.5275T>G (p.Tyr1759Asp) c.1-43754T>G (n.1-43754T>G) c.4531T>G (p.Tyr1511Asp) c.5077T>G (p.Tyr1693Asp) c.4894T>G (p.Tyr1632Asp) c.4615T>G (p.Tyr1539Asp) c.3658T>G (p.Tyr1220Asp) c.3649T>G (p.Tyr1217Asp) | |
| 5 | g.37020825A>C | CA359488145 | NIPBL | c.5276A>C (p.Tyr1759Ser) c.1-43753A>C (n.1-43753A>C) c.4532A>C (p.Tyr1511Ser) c.5078A>C (p.Tyr1693Ser) c.4895A>C (p.Tyr1632Ser) c.4616A>C (p.Tyr1539Ser) c.3659A>C (p.Tyr1220Ser) c.3650A>C (p.Tyr1217Ser) | |
| 5 | g.37020825A>G | CA359488154 | NIPBL | c.5276A>G (p.Tyr1759Cys) c.1-43753A>G (n.1-43753A>G) c.4532A>G (p.Tyr1511Cys) c.5078A>G (p.Tyr1693Cys) c.4895A>G (p.Tyr1632Cys) c.4616A>G (p.Tyr1539Cys) c.3659A>G (p.Tyr1220Cys) c.3650A>G (p.Tyr1217Cys) | |
| 5 | g.37020825A>T | CA359488151 | NIPBL | c.5276A>T (p.Tyr1759Phe) c.1-43753A>T (n.1-43753A>T) c.4532A>T (p.Tyr1511Phe) c.5078A>T (p.Tyr1693Phe) c.4895A>T (p.Tyr1632Phe) c.4616A>T (p.Tyr1539Phe) c.3659A>T (p.Tyr1220Phe) c.3650A>T (p.Tyr1217Phe) | |
| 5 | g.37020826C>A | CA359488159 | NIPBL | c.5277C>A (p.Tyr1759Ter) c.1-43752C>A (n.1-43752C>A) c.4533C>A (p.Tyr1511Ter) c.5079C>A (p.Tyr1693Ter) c.4896C>A (p.Tyr1632Ter) c.4617C>A (p.Tyr1539Ter) c.3660C>A (p.Tyr1220Ter) c.3651C>A (p.Tyr1217Ter) | |
| 5 | g.37020826C= | CA1539584730 | NIPBL | c.5277C= (p.Tyr1759=) c.1-43752C= (n.1-43752C=) c.4533C= (p.Tyr1511=) c.5079C= (p.Tyr1693=) c.4896C= (p.Tyr1632=) c.4617C= (p.Tyr1539=) c.3660C= (p.Tyr1220=) c.3651C= (p.Tyr1217=) | |
| 5 | g.37020826C>G | CA359488162 | NIPBL | c.5277C>G (p.Tyr1759Ter) c.1-43752C>G (n.1-43752C>G) c.4533C>G (p.Tyr1511Ter) c.5079C>G (p.Tyr1693Ter) c.4896C>G (p.Tyr1632Ter) c.4617C>G (p.Tyr1539Ter) c.3660C>G (p.Tyr1220Ter) c.3651C>G (p.Tyr1217Ter) | |
| 5 | g.37020826C>T | CA443905211 | NIPBL | c.5277C>T (p.Tyr1759=) c.1-43752C>T (n.1-43752C>T) c.4533C>T (p.Tyr1511=) c.5079C>T (p.Tyr1693=) c.4896C>T (p.Tyr1632=) c.4617C>T (p.Tyr1539=) c.3660C>T (p.Tyr1220=) c.3651C>T (p.Tyr1217=) | dbSNP gnomAD v4 |
| 5 | g.37020827T>A | CA359488166 | NIPBL | c.5278T>A (p.Leu1760Met) c.1-43751T>A (n.1-43751T>A) c.4534T>A (p.Leu1512Met) c.5080T>A (p.Leu1694Met) c.4897T>A (p.Leu1633Met) c.4618T>A (p.Leu1540Met) c.3661T>A (p.Leu1221Met) c.3652T>A (p.Leu1218Met) | |
| 5 | g.37020827T>C | CA443905212 | NIPBL | c.5278T>C (p.Leu1760=) c.1-43751T>C (n.1-43751T>C) c.4534T>C (p.Leu1512=) c.5080T>C (p.Leu1694=) c.4897T>C (p.Leu1633=) c.4618T>C (p.Leu1540=) c.3661T>C (p.Leu1221=) c.3652T>C (p.Leu1218=) | |
| 5 | g.37020827T>G | CA359488167 | NIPBL | c.5278T>G (p.Leu1760Val) c.1-43751T>G (n.1-43751T>G) c.4534T>G (p.Leu1512Val) c.5080T>G (p.Leu1694Val) c.4897T>G (p.Leu1633Val) c.4618T>G (p.Leu1540Val) c.3661T>G (p.Leu1221Val) c.3652T>G (p.Leu1218Val) | |
| 5 | g.37020828T>A | CA359488171 | NIPBL | c.5279T>A (p.Leu1760Ter) c.1-43750T>A (n.1-43750T>A) c.4535T>A (p.Leu1512Ter) c.5081T>A (p.Leu1694Ter) c.4898T>A (p.Leu1633Ter) c.4619T>A (p.Leu1540Ter) c.3662T>A (p.Leu1221Ter) c.3653T>A (p.Leu1218Ter) | |
| 5 | g.37020828T>C | CA359488172 | NIPBL | c.5279T>C (p.Leu1760Ser) c.1-43750T>C (n.1-43750T>C) c.4535T>C (p.Leu1512Ser) c.5081T>C (p.Leu1694Ser) c.4898T>C (p.Leu1633Ser) c.4619T>C (p.Leu1540Ser) c.3662T>C (p.Leu1221Ser) c.3653T>C (p.Leu1218Ser) | |
| 5 | g.37020828T>G | CA359488173 | NIPBL | c.5279T>G (p.Leu1760Trp) c.1-43750T>G (n.1-43750T>G) c.4535T>G (p.Leu1512Trp) c.5081T>G (p.Leu1694Trp) c.4898T>G (p.Leu1633Trp) c.4619T>G (p.Leu1540Trp) c.3662T>G (p.Leu1221Trp) c.3653T>G (p.Leu1218Trp) | |
| 5 | g.37020829G>A | CA443905213 | NIPBL | c.5280G>A (p.Leu1760=) c.1-43749G>A (n.1-43749G>A) c.4536G>A (p.Leu1512=) c.5082G>A (p.Leu1694=) c.4899G>A (p.Leu1633=) c.4620G>A (p.Leu1540=) c.3663G>A (p.Leu1221=) c.3654G>A (p.Leu1218=) | |
| 5 | g.37020829G>C | CA359488177 | NIPBL | c.5280G>C (p.Leu1760Phe) c.1-43749G>C (n.1-43749G>C) c.4536G>C (p.Leu1512Phe) c.5082G>C (p.Leu1694Phe) c.4899G>C (p.Leu1633Phe) c.4620G>C (p.Leu1540Phe) c.3663G>C (p.Leu1221Phe) c.3654G>C (p.Leu1218Phe) | |
| 5 | g.37020829G>T | CA359488185 | NIPBL | c.5280G>T (p.Leu1760Phe) c.1-43749G>T (n.1-43749G>T) c.4536G>T (p.Leu1512Phe) c.5082G>T (p.Leu1694Phe) c.4899G>T (p.Leu1633Phe) c.4620G>T (p.Leu1540Phe) c.3663G>T (p.Leu1221Phe) c.3654G>T (p.Leu1218Phe) | |
| 5 | g.37020830G>A | CA359488187 | NIPBL | c.5281G>A (p.Ala1761Thr) c.1-43748G>A (n.1-43748G>A) c.4537G>A (p.Ala1513Thr) c.5083G>A (p.Ala1695Thr) c.4900G>A (p.Ala1634Thr) c.4621G>A (p.Ala1541Thr) c.3664G>A (p.Ala1222Thr) c.3655G>A (p.Ala1219Thr) | |
| 5 | g.37020830G>C | CA359488192 | NIPBL | c.5281G>C (p.Ala1761Pro) c.1-43748G>C (n.1-43748G>C) c.4537G>C (p.Ala1513Pro) c.5083G>C (p.Ala1695Pro) c.4900G>C (p.Ala1634Pro) c.4621G>C (p.Ala1541Pro) c.3664G>C (p.Ala1222Pro) c.3655G>C (p.Ala1219Pro) | |
| 5 | g.37020830G>T | CA359488196 | NIPBL | c.5281G>T (p.Ala1761Ser) c.1-43748G>T (n.1-43748G>T) c.4537G>T (p.Ala1513Ser) c.5083G>T (p.Ala1695Ser) c.4900G>T (p.Ala1634Ser) c.4621G>T (p.Ala1541Ser) c.3664G>T (p.Ala1222Ser) c.3655G>T (p.Ala1219Ser) | |
| 5 | g.37020831C>A | CA359488209 | NIPBL | c.5282C>A (p.Ala1761Asp) c.1-43747C>A (n.1-43747C>A) c.4538C>A (p.Ala1513Asp) c.5084C>A (p.Ala1695Asp) c.4901C>A (p.Ala1634Asp) c.4622C>A (p.Ala1541Asp) c.3665C>A (p.Ala1222Asp) c.3656C>A (p.Ala1219Asp) | |
| 5 | g.37020831C>G | CA359488201 | NIPBL | c.5282C>G (p.Ala1761Gly) c.1-43747C>G (n.1-43747C>G) c.4538C>G (p.Ala1513Gly) c.5084C>G (p.Ala1695Gly) c.4901C>G (p.Ala1634Gly) c.4622C>G (p.Ala1541Gly) c.3665C>G (p.Ala1222Gly) c.3656C>G (p.Ala1219Gly) | |
| 5 | g.37020831C>T | CA359488206 | NIPBL | c.5282C>T (p.Ala1761Val) c.1-43747C>T (n.1-43747C>T) c.4538C>T (p.Ala1513Val) c.5084C>T (p.Ala1695Val) c.4901C>T (p.Ala1634Val) c.4622C>T (p.Ala1541Val) c.3665C>T (p.Ala1222Val) c.3656C>T (p.Ala1219Val) | |
| 5 | g.37020832C>A | CA443905214 | NIPBL | c.5283C>A (p.Ala1761=) c.1-43746C>A (n.1-43746C>A) c.4539C>A (p.Ala1513=) c.5085C>A (p.Ala1695=) c.4902C>A (p.Ala1634=) c.4623C>A (p.Ala1541=) c.3666C>A (p.Ala1222=) c.3657C>A (p.Ala1219=) | |
| 5 | g.37020832C>G | CA443905215 | NIPBL | c.5283C>G (p.Ala1761=) c.1-43746C>G (n.1-43746C>G) c.4539C>G (p.Ala1513=) c.5085C>G (p.Ala1695=) c.4902C>G (p.Ala1634=) c.4623C>G (p.Ala1541=) c.3666C>G (p.Ala1222=) c.3657C>G (p.Ala1219=) | |
| 5 | g.37020832C>T | CA443905216 | NIPBL | c.5283C>T (p.Ala1761=) c.1-43746C>T (n.1-43746C>T) c.4539C>T (p.Ala1513=) c.5085C>T (p.Ala1695=) c.4902C>T (p.Ala1634=) c.4623C>T (p.Ala1541=) c.3666C>T (p.Ala1222=) c.3657C>T (p.Ala1219=) | |
| 5 | g.37020833T>A | CA359488213 | NIPBL | c.5284T>A (p.Ser1762Thr) c.1-43745T>A (n.1-43745T>A) c.4540T>A (p.Ser1514Thr) c.5086T>A (p.Ser1696Thr) c.4903T>A (p.Ser1635Thr) c.4624T>A (p.Ser1542Thr) c.3667T>A (p.Ser1223Thr) c.3658T>A (p.Ser1220Thr) | gnomAD v4 |
| 5 | g.37020833T>C | CA359488219 | NIPBL | c.5284T>C (p.Ser1762Pro) c.1-43745T>C (n.1-43745T>C) c.4540T>C (p.Ser1514Pro) c.5086T>C (p.Ser1696Pro) c.4903T>C (p.Ser1635Pro) c.4624T>C (p.Ser1542Pro) c.3667T>C (p.Ser1223Pro) c.3658T>C (p.Ser1220Pro) | |
| 5 | g.37020833T>G | CA359488215 | NIPBL | c.5284T>G (p.Ser1762Ala) c.1-43745T>G (n.1-43745T>G) c.4540T>G (p.Ser1514Ala) c.5086T>G (p.Ser1696Ala) c.4903T>G (p.Ser1635Ala) c.4624T>G (p.Ser1542Ala) c.3667T>G (p.Ser1223Ala) c.3658T>G (p.Ser1220Ala) | |
| 5 | g.37020834C>A | CA359488223 | NIPBL | c.5285C>A (p.Ser1762Tyr) c.1-43744C>A (n.1-43744C>A) c.4541C>A (p.Ser1514Tyr) c.5087C>A (p.Ser1696Tyr) c.4904C>A (p.Ser1635Tyr) c.4625C>A (p.Ser1542Tyr) c.3668C>A (p.Ser1223Tyr) c.3659C>A (p.Ser1220Tyr) | |
| 5 | g.37020834C>G | CA359488227 | NIPBL | c.5285C>G (p.Ser1762Cys) c.1-43744C>G (n.1-43744C>G) c.4541C>G (p.Ser1514Cys) c.5087C>G (p.Ser1696Cys) c.4904C>G (p.Ser1635Cys) c.4625C>G (p.Ser1542Cys) c.3668C>G (p.Ser1223Cys) c.3659C>G (p.Ser1220Cys) | |
| 5 | g.37020834C>T | CA359488229 | NIPBL | c.5285C>T (p.Ser1762Phe) c.1-43744C>T (n.1-43744C>T) c.4541C>T (p.Ser1514Phe) c.5087C>T (p.Ser1696Phe) c.4904C>T (p.Ser1635Phe) c.4625C>T (p.Ser1542Phe) c.3668C>T (p.Ser1223Phe) c.3659C>T (p.Ser1220Phe) | gnomAD v4 |
| 5 | g.37020835C>A | CA443905217 | NIPBL | c.5286C>A (p.Ser1762=) c.1-43743C>A (n.1-43743C>A) c.4542C>A (p.Ser1514=) c.5088C>A (p.Ser1696=) c.4905C>A (p.Ser1635=) c.4626C>A (p.Ser1542=) c.3669C>A (p.Ser1223=) c.3660C>A (p.Ser1220=) | gnomAD v4 COSMIC COSMIC |
| 5 | g.37020835C>G | CA443905218 | NIPBL | c.5286C>G (p.Ser1762=) c.1-43743C>G (n.1-43743C>G) c.4542C>G (p.Ser1514=) c.5088C>G (p.Ser1696=) c.4905C>G (p.Ser1635=) c.4626C>G (p.Ser1542=) c.3669C>G (p.Ser1223=) c.3660C>G (p.Ser1220=) | |
| 5 | g.37020835C>T | CA443905219 | NIPBL | c.5286C>T (p.Ser1762=) c.1-43743C>T (n.1-43743C>T) c.4542C>T (p.Ser1514=) c.5088C>T (p.Ser1696=) c.4905C>T (p.Ser1635=) c.4626C>T (p.Ser1542=) c.3669C>T (p.Ser1223=) c.3660C>T (p.Ser1220=) | |
| 5 | g.37020836A>C | CA359488232 | NIPBL | c.5287A>C (p.Met1763Leu) c.1-43742A>C (n.1-43742A>C) c.4543A>C (p.Met1515Leu) c.5089A>C (p.Met1697Leu) c.4906A>C (p.Met1636Leu) c.4627A>C (p.Met1543Leu) c.3670A>C (p.Met1224Leu) c.3661A>C (p.Met1221Leu) | |
| 5 | g.37020836A>G | CA359488236 | NIPBL | c.5287A>G (p.Met1763Val) c.1-43742A>G (n.1-43742A>G) c.4543A>G (p.Met1515Val) c.5089A>G (p.Met1697Val) c.4906A>G (p.Met1636Val) c.4627A>G (p.Met1543Val) c.3670A>G (p.Met1224Val) c.3661A>G (p.Met1221Val) | |
| 5 | g.37020836A>T | CA359488241 | NIPBL | c.5287A>T (p.Met1763Leu) c.1-43742A>T (n.1-43742A>T) c.4543A>T (p.Met1515Leu) c.5089A>T (p.Met1697Leu) c.4906A>T (p.Met1636Leu) c.4627A>T (p.Met1543Leu) c.3670A>T (p.Met1224Leu) c.3661A>T (p.Met1221Leu) | gnomAD v4 |
| 5 | g.37020837T>A | CA359488244 | NIPBL | c.5288T>A (p.Met1763Lys) c.1-43741T>A (n.1-43741T>A) c.4544T>A (p.Met1515Lys) c.5090T>A (p.Met1697Lys) c.4907T>A (p.Met1636Lys) c.4628T>A (p.Met1543Lys) c.3671T>A (p.Met1224Lys) c.3662T>A (p.Met1221Lys) | |
| 5 | g.37020837T>C | CA359488246 | NIPBL | c.5288T>C (p.Met1763Thr) c.1-43741T>C (n.1-43741T>C) c.4544T>C (p.Met1515Thr) c.5090T>C (p.Met1697Thr) c.4907T>C (p.Met1636Thr) c.4628T>C (p.Met1543Thr) c.3671T>C (p.Met1224Thr) c.3662T>C (p.Met1221Thr) | |
| 5 | g.37020837T>G | CA359488257 | NIPBL | c.5288T>G (p.Met1763Arg) c.1-43741T>G (n.1-43741T>G) c.4544T>G (p.Met1515Arg) c.5090T>G (p.Met1697Arg) c.4907T>G (p.Met1636Arg) c.4628T>G (p.Met1543Arg) c.3671T>G (p.Met1224Arg) c.3662T>G (p.Met1221Arg) | |
| 5 | g.37020838G>A | CA359488264 | NIPBL | c.5289G>A (p.Met1763Ile) c.1-43740G>A (n.1-43740G>A) c.4545G>A (p.Met1515Ile) c.5091G>A (p.Met1697Ile) c.4908G>A (p.Met1636Ile) c.4629G>A (p.Met1543Ile) c.3672G>A (p.Met1224Ile) c.3663G>A (p.Met1221Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020838G>C | CA359488275 | NIPBL | c.5289G>C (p.Met1763Ile) c.1-43740G>C (n.1-43740G>C) c.4545G>C (p.Met1515Ile) c.5091G>C (p.Met1697Ile) c.4908G>C (p.Met1636Ile) c.4629G>C (p.Met1543Ile) c.3672G>C (p.Met1224Ile) c.3663G>C (p.Met1221Ile) | |
| 5 | g.37020838G= | CA1539584738 | NIPBL | c.5289G= (p.Met1763=) c.1-43740G= (n.1-43740G=) c.4545G= (p.Met1515=) c.5091G= (p.Met1697=) c.4908G= (p.Met1636=) c.4629G= (p.Met1543=) c.3672G= (p.Met1224=) c.3663G= (p.Met1221=) | |
| 5 | g.37020838G>T | CA359488277 | NIPBL | c.5289G>T (p.Met1763Ile) c.1-43740G>T (n.1-43740G>T) c.4545G>T (p.Met1515Ile) c.5091G>T (p.Met1697Ile) c.4908G>T (p.Met1636Ile) c.4629G>T (p.Met1543Ile) c.3672G>T (p.Met1224Ile) c.3663G>T (p.Met1221Ile) | |
| 5 | g.37020839A>C | CA443905220 | NIPBL | c.5290A>C (p.Arg1764=) c.1-43739A>C (n.1-43739A>C) c.4546A>C (p.Arg1516=) c.5092A>C (p.Arg1698=) c.4909A>C (p.Arg1637=) c.4630A>C (p.Arg1544=) c.3673A>C (p.Arg1225=) c.3664A>C (p.Arg1222=) | |
| 5 | g.37020839A>G | CA359488280 | NIPBL | c.5290A>G (p.Arg1764Gly) c.1-43739A>G (n.1-43739A>G) c.4546A>G (p.Arg1516Gly) c.5092A>G (p.Arg1698Gly) c.4909A>G (p.Arg1637Gly) c.4630A>G (p.Arg1544Gly) c.3673A>G (p.Arg1225Gly) c.3664A>G (p.Arg1222Gly) | |
| 5 | g.37020839A>T | CA359488282 | NIPBL | c.5290A>T (p.Arg1764Trp) c.1-43739A>T (n.1-43739A>T) c.4546A>T (p.Arg1516Trp) c.5092A>T (p.Arg1698Trp) c.4909A>T (p.Arg1637Trp) c.4630A>T (p.Arg1544Trp) c.3673A>T (p.Arg1225Trp) c.3664A>T (p.Arg1222Trp) | |
| 5 | g.37020840G>A | CA359488284 | NIPBL | c.5291G>A (p.Arg1764Lys) c.1-43738G>A (n.1-43738G>A) c.4547G>A (p.Arg1516Lys) c.5093G>A (p.Arg1698Lys) c.4910G>A (p.Arg1637Lys) c.4631G>A (p.Arg1544Lys) c.3674G>A (p.Arg1225Lys) c.3665G>A (p.Arg1222Lys) | |
| 5 | g.37020840G>C | CA359488285 | NIPBL | c.5291G>C (p.Arg1764Thr) c.1-43738G>C (n.1-43738G>C) c.4547G>C (p.Arg1516Thr) c.5093G>C (p.Arg1698Thr) c.4910G>C (p.Arg1637Thr) c.4631G>C (p.Arg1544Thr) c.3674G>C (p.Arg1225Thr) c.3665G>C (p.Arg1222Thr) | |
| 5 | g.37020840G>T | CA359488287 | NIPBL | c.5291G>T (p.Arg1764Met) c.1-43738G>T (n.1-43738G>T) c.4547G>T (p.Arg1516Met) c.5093G>T (p.Arg1698Met) c.4910G>T (p.Arg1637Met) c.4631G>T (p.Arg1544Met) c.3674G>T (p.Arg1225Met) c.3665G>T (p.Arg1222Met) | |
| 5 | g.37020841G>A | CA443905221 | NIPBL | c.5292G>A (p.Arg1764=) c.1-43737G>A (n.1-43737G>A) c.4548G>A (p.Arg1516=) c.5094G>A (p.Arg1698=) c.4911G>A (p.Arg1637=) c.4632G>A (p.Arg1544=) c.3675G>A (p.Arg1225=) c.3666G>A (p.Arg1222=) | |
| 5 | g.37020841G>C | CA359488291 | NIPBL | c.5292G>C (p.Arg1764Ser) c.1-43737G>C (n.1-43737G>C) c.4548G>C (p.Arg1516Ser) c.5094G>C (p.Arg1698Ser) c.4911G>C (p.Arg1637Ser) c.4632G>C (p.Arg1544Ser) c.3675G>C (p.Arg1225Ser) c.3666G>C (p.Arg1222Ser) | |
| 5 | g.37020841G>T | CA359488294 | NIPBL | c.5292G>T (p.Arg1764Ser) c.1-43737G>T (n.1-43737G>T) c.4548G>T (p.Arg1516Ser) c.5094G>T (p.Arg1698Ser) c.4911G>T (p.Arg1637Ser) c.4632G>T (p.Arg1544Ser) c.3675G>T (p.Arg1225Ser) c.3666G>T (p.Arg1222Ser) | |
| 5 | g.37020842C>A | CA359488298 | NIPBL | c.5293C>A (p.Pro1765Thr) c.1-43736C>A (n.1-43736C>A) c.4549C>A (p.Pro1517Thr) c.5095C>A (p.Pro1699Thr) c.4912C>A (p.Pro1638Thr) c.4633C>A (p.Pro1545Thr) c.3676C>A (p.Pro1226Thr) c.3667C>A (p.Pro1223Thr) | |
| 5 | g.37020842C= | CA1539584744 | NIPBL | c.5293C= (p.Pro1765=) c.1-43736C= (n.1-43736C=) c.4549C= (p.Pro1517=) c.5095C= (p.Pro1699=) c.4912C= (p.Pro1638=) c.4633C= (p.Pro1545=) c.3676C= (p.Pro1226=) c.3667C= (p.Pro1223=) | |
| 5 | g.37020842C>G | CA359488301 | NIPBL | c.5293C>G (p.Pro1765Ala) c.1-43736C>G (n.1-43736C>G) c.4549C>G (p.Pro1517Ala) c.5095C>G (p.Pro1699Ala) c.4912C>G (p.Pro1638Ala) c.4633C>G (p.Pro1545Ala) c.3676C>G (p.Pro1226Ala) c.3667C>G (p.Pro1223Ala) | |
| 5 | g.37020842C>T | CA359488308 | NIPBL | c.5293C>T (p.Pro1765Ser) c.1-43736C>T (n.1-43736C>T) c.4549C>T (p.Pro1517Ser) c.5095C>T (p.Pro1699Ser) c.4912C>T (p.Pro1638Ser) c.4633C>T (p.Pro1545Ser) c.3676C>T (p.Pro1226Ser) c.3667C>T (p.Pro1223Ser) | dbSNP |
| 5 | g.37020843C>A | CA359488311 | NIPBL | c.5294C>A (p.Pro1765Gln) c.1-43735C>A (n.1-43735C>A) c.4550C>A (p.Pro1517Gln) c.5096C>A (p.Pro1699Gln) c.4913C>A (p.Pro1638Gln) c.4634C>A (p.Pro1545Gln) c.3677C>A (p.Pro1226Gln) c.3668C>A (p.Pro1223Gln) | |
| 5 | g.37020843C>G | CA359488313 | NIPBL | c.5294C>G (p.Pro1765Arg) c.1-43735C>G (n.1-43735C>G) c.4550C>G (p.Pro1517Arg) c.5096C>G (p.Pro1699Arg) c.4913C>G (p.Pro1638Arg) c.4634C>G (p.Pro1545Arg) c.3677C>G (p.Pro1226Arg) c.3668C>G (p.Pro1223Arg) | |
| 5 | g.37020843C>T | CA359488316 | NIPBL | c.5294C>T (p.Pro1765Leu) c.1-43735C>T (n.1-43735C>T) c.4550C>T (p.Pro1517Leu) c.5096C>T (p.Pro1699Leu) c.4913C>T (p.Pro1638Leu) c.4634C>T (p.Pro1545Leu) c.3677C>T (p.Pro1226Leu) c.3668C>T (p.Pro1223Leu) | gnomAD v4 |
| 5 | g.37020844G>A | CA3236741 | NIPBL | c.5295G>A (p.Pro1765=) c.1-43734G>A (n.1-43734G>A) c.4551G>A (p.Pro1517=) c.5097G>A (p.Pro1699=) c.4914G>A (p.Pro1638=) c.4635G>A (p.Pro1545=) c.3678G>A (p.Pro1226=) c.3669G>A (p.Pro1223=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.37020844G>C | CA443905222 | NIPBL | c.5295G>C (p.Pro1765=) c.1-43734G>C (n.1-43734G>C) c.4551G>C (p.Pro1517=) c.5097G>C (p.Pro1699=) c.4914G>C (p.Pro1638=) c.4635G>C (p.Pro1545=) c.3678G>C (p.Pro1226=) c.3669G>C (p.Pro1223=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.37020844G= | CA1539584752 | NIPBL | c.5295G= (p.Pro1765=) c.1-43734G= (n.1-43734G=) c.4551G= (p.Pro1517=) c.5097G= (p.Pro1699=) c.4914G= (p.Pro1638=) c.4635G= (p.Pro1545=) c.3678G= (p.Pro1226=) c.3669G= (p.Pro1223=) | |
| 5 | g.37020844G>T | CA443905223 | NIPBL | c.5295G>T (p.Pro1765=) c.1-43734G>T (n.1-43734G>T) c.4551G>T (p.Pro1517=) c.5097G>T (p.Pro1699=) c.4914G>T (p.Pro1638=) c.4635G>T (p.Pro1545=) c.3678G>T (p.Pro1226=) c.3669G>T (p.Pro1223=) | |
| 5 | g.37020845T>A | CA359488323 | NIPBL | c.5296T>A (p.Phe1766Ile) c.1-43733T>A (n.1-43733T>A) c.4552T>A (p.Phe1518Ile) c.5098T>A (p.Phe1700Ile) c.4915T>A (p.Phe1639Ile) c.4636T>A (p.Phe1546Ile) c.3679T>A (p.Phe1227Ile) c.3670T>A (p.Phe1224Ile) | |
| 5 | g.37020845T>C | CA359488334 | NIPBL | c.5296T>C (p.Phe1766Leu) c.1-43733T>C (n.1-43733T>C) c.4552T>C (p.Phe1518Leu) c.5098T>C (p.Phe1700Leu) c.4915T>C (p.Phe1639Leu) c.4636T>C (p.Phe1546Leu) c.3679T>C (p.Phe1227Leu) c.3670T>C (p.Phe1224Leu) | |
| 5 | g.37020845T>G | CA359488325 | NIPBL | c.5296T>G (p.Phe1766Val) c.1-43733T>G (n.1-43733T>G) c.4552T>G (p.Phe1518Val) c.5098T>G (p.Phe1700Val) c.4915T>G (p.Phe1639Val) c.4636T>G (p.Phe1546Val) c.3679T>G (p.Phe1227Val) c.3670T>G (p.Phe1224Val) | |
| 5 | g.37020846T>A | CA359488337 | NIPBL | c.5297T>A (p.Phe1766Tyr) c.1-43732T>A (n.1-43732T>A) c.4553T>A (p.Phe1518Tyr) c.5099T>A (p.Phe1700Tyr) c.4916T>A (p.Phe1639Tyr) c.4637T>A (p.Phe1546Tyr) c.3680T>A (p.Phe1227Tyr) c.3671T>A (p.Phe1224Tyr) | |
| 5 | g.37020846T>C | CA359488338 | NIPBL | c.5297T>C (p.Phe1766Ser) c.1-43732T>C (n.1-43732T>C) c.4553T>C (p.Phe1518Ser) c.5099T>C (p.Phe1700Ser) c.4916T>C (p.Phe1639Ser) c.4637T>C (p.Phe1546Ser) c.3680T>C (p.Phe1227Ser) c.3671T>C (p.Phe1224Ser) | gnomAD v4 |
| 5 | g.37020846T>G | CA359488339 | NIPBL | c.5297T>G (p.Phe1766Cys) c.1-43732T>G (n.1-43732T>G) c.4553T>G (p.Phe1518Cys) c.5099T>G (p.Phe1700Cys) c.4916T>G (p.Phe1639Cys) c.4637T>G (p.Phe1546Cys) c.3680T>G (p.Phe1227Cys) c.3671T>G (p.Phe1224Cys) | |
| 5 | g.37020847T>A | CA359488340 | NIPBL | c.5298T>A (p.Phe1766Leu) c.1-43731T>A (n.1-43731T>A) c.4554T>A (p.Phe1518Leu) c.5100T>A (p.Phe1700Leu) c.4917T>A (p.Phe1639Leu) c.4638T>A (p.Phe1546Leu) c.3681T>A (p.Phe1227Leu) c.3672T>A (p.Phe1224Leu) | |
| 5 | g.37020847T>C | CA443905224 | NIPBL | c.5298T>C (p.Phe1766=) c.1-43731T>C (n.1-43731T>C) c.4554T>C (p.Phe1518=) c.5100T>C (p.Phe1700=) c.4917T>C (p.Phe1639=) c.4638T>C (p.Phe1546=) c.3681T>C (p.Phe1227=) c.3672T>C (p.Phe1224=) | |
| 5 | g.37020847T>G | CA359488343 | NIPBL | c.5298T>G (p.Phe1766Leu) c.1-43731T>G (n.1-43731T>G) c.4554T>G (p.Phe1518Leu) c.5100T>G (p.Phe1700Leu) c.4917T>G (p.Phe1639Leu) c.4638T>G (p.Phe1546Leu) c.3681T>G (p.Phe1227Leu) c.3672T>G (p.Phe1224Leu) | |
| 5 | g.37020848G>A | CA359488347 | NIPBL | c.5299G>A (p.Ala1767Thr) c.1-43730G>A (n.1-43730G>A) c.4555G>A (p.Ala1519Thr) c.5101G>A (p.Ala1701Thr) c.4918G>A (p.Ala1640Thr) c.4639G>A (p.Ala1547Thr) c.3682G>A (p.Ala1228Thr) c.3673G>A (p.Ala1225Thr) | |
| 5 | g.37020848G>C | CA359488346 | NIPBL | c.5299G>C (p.Ala1767Pro) c.1-43730G>C (n.1-43730G>C) c.4555G>C (p.Ala1519Pro) c.5101G>C (p.Ala1701Pro) c.4918G>C (p.Ala1640Pro) c.4639G>C (p.Ala1547Pro) c.3682G>C (p.Ala1228Pro) c.3673G>C (p.Ala1225Pro) | |
| 5 | g.37020848G= | CA1539584763 | NIPBL | c.5299G= (p.Ala1767=) c.1-43730G= (n.1-43730G=) c.4555G= (p.Ala1519=) c.5101G= (p.Ala1701=) c.4918G= (p.Ala1640=) c.4639G= (p.Ala1547=) c.3682G= (p.Ala1228=) c.3673G= (p.Ala1225=) | |
| 5 | g.37020848G>T | CA359488345 | NIPBL | c.5299G>T (p.Ala1767Ser) c.1-43730G>T (n.1-43730G>T) c.4555G>T (p.Ala1519Ser) c.5101G>T (p.Ala1701Ser) c.4918G>T (p.Ala1640Ser) c.4639G>T (p.Ala1547Ser) c.3682G>T (p.Ala1228Ser) c.3673G>T (p.Ala1225Ser) | dbSNP gnomAD v4 |
| 5 | g.37020849C>A | CA359488348 | NIPBL | c.5300C>A (p.Ala1767Asp) c.1-43729C>A (n.1-43729C>A) c.4556C>A (p.Ala1519Asp) c.5102C>A (p.Ala1701Asp) c.4919C>A (p.Ala1640Asp) c.4640C>A (p.Ala1547Asp) c.3683C>A (p.Ala1228Asp) c.3674C>A (p.Ala1225Asp) | |
| 5 | g.37020849C>G | CA359488349 | NIPBL | c.5300C>G (p.Ala1767Gly) c.1-43729C>G (n.1-43729C>G) c.4556C>G (p.Ala1519Gly) c.5102C>G (p.Ala1701Gly) c.4919C>G (p.Ala1640Gly) c.4640C>G (p.Ala1547Gly) c.3683C>G (p.Ala1228Gly) c.3674C>G (p.Ala1225Gly) | |
| 5 | g.37020849C>T | CA359488350 | NIPBL | c.5300C>T (p.Ala1767Val) c.1-43729C>T (n.1-43729C>T) c.4556C>T (p.Ala1519Val) c.5102C>T (p.Ala1701Val) c.4919C>T (p.Ala1640Val) c.4640C>T (p.Ala1547Val) c.3683C>T (p.Ala1228Val) c.3674C>T (p.Ala1225Val) | |
| 5 | g.37020850C>A | CA443905225 | NIPBL | c.5301C>A (p.Ala1767=) c.1-43728C>A (n.1-43728C>A) c.4557C>A (p.Ala1519=) c.5103C>A (p.Ala1701=) c.4920C>A (p.Ala1640=) c.4641C>A (p.Ala1547=) c.3684C>A (p.Ala1228=) c.3675C>A (p.Ala1225=) | |
| 5 | g.37020850C= | CA1539584770 | NIPBL | c.5301C= (p.Ala1767=) c.1-43728C= (n.1-43728C=) c.4557C= (p.Ala1519=) c.5103C= (p.Ala1701=) c.4920C= (p.Ala1640=) c.4641C= (p.Ala1547=) c.3684C= (p.Ala1228=) c.3675C= (p.Ala1225=) | |
| 5 | g.37020850C>G | CA443905227 | NIPBL | c.5301C>G (p.Ala1767=) c.1-43728C>G (n.1-43728C>G) c.4557C>G (p.Ala1519=) c.5103C>G (p.Ala1701=) c.4920C>G (p.Ala1640=) c.4641C>G (p.Ala1547=) c.3684C>G (p.Ala1228=) c.3675C>G (p.Ala1225=) | gnomAD v4 |
| 5 | g.37020850C>T | CA443905226 | NIPBL | c.5301C>T (p.Ala1767=) c.1-43728C>T (n.1-43728C>T) c.4557C>T (p.Ala1519=) c.5103C>T (p.Ala1701=) c.4920C>T (p.Ala1640=) c.4641C>T (p.Ala1547=) c.3684C>T (p.Ala1228=) c.3675C>T (p.Ala1225=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37020851C>A | CA359488352 | NIPBL | c.5302C>A (p.Gln1768Lys) c.1-43727C>A (n.1-43727C>A) c.4558C>A (p.Gln1520Lys) c.5104C>A (p.Gln1702Lys) c.4921C>A (p.Gln1641Lys) c.4642C>A (p.Gln1548Lys) c.3685C>A (p.Gln1229Lys) c.3676C>A (p.Gln1226Lys) | |
| 5 | g.37020851C>G | CA359488354 | NIPBL | c.5302C>G (p.Gln1768Glu) c.1-43727C>G (n.1-43727C>G) c.4558C>G (p.Gln1520Glu) c.5104C>G (p.Gln1702Glu) c.4921C>G (p.Gln1641Glu) c.4642C>G (p.Gln1548Glu) c.3685C>G (p.Gln1229Glu) c.3676C>G (p.Gln1226Glu) | |
| 5 | g.37020851C>T | CA359488358 | NIPBL | c.5302C>T (p.Gln1768Ter) c.1-43727C>T (n.1-43727C>T) c.4558C>T (p.Gln1520Ter) c.5104C>T (p.Gln1702Ter) c.4921C>T (p.Gln1641Ter) c.4642C>T (p.Gln1548Ter) c.3685C>T (p.Gln1229Ter) c.3676C>T (p.Gln1226Ter) | |
| 5 | g.37020852A= | CA1539584792 | NIPBL | c.5303A= (p.Gln1768=) c.1-43726A= (n.1-43726A=) c.4559A= (p.Gln1520=) c.5105A= (p.Gln1702=) c.4922A= (p.Gln1641=) c.4643A= (p.Gln1548=) c.3686A= (p.Gln1229=) c.3677A= (p.Gln1226=) | |
| 5 | g.37020852A>C | CA359488361 | NIPBL | c.5303A>C (p.Gln1768Pro) c.1-43726A>C (n.1-43726A>C) c.4559A>C (p.Gln1520Pro) c.5105A>C (p.Gln1702Pro) c.4922A>C (p.Gln1641Pro) c.4643A>C (p.Gln1548Pro) c.3686A>C (p.Gln1229Pro) c.3677A>C (p.Gln1226Pro) | dbSNP gnomAD v2 |
| 5 | g.37020852A>G | CA359488359 | NIPBL | c.5303A>G (p.Gln1768Arg) c.1-43726A>G (n.1-43726A>G) c.4559A>G (p.Gln1520Arg) c.5105A>G (p.Gln1702Arg) c.4922A>G (p.Gln1641Arg) c.4643A>G (p.Gln1548Arg) c.3686A>G (p.Gln1229Arg) c.3677A>G (p.Gln1226Arg) | |
| 5 | g.37020852A>T | CA359488360 | NIPBL | c.5303A>T (p.Gln1768Leu) c.1-43726A>T (n.1-43726A>T) c.4559A>T (p.Gln1520Leu) c.5105A>T (p.Gln1702Leu) c.4922A>T (p.Gln1641Leu) c.4643A>T (p.Gln1548Leu) c.3686A>T (p.Gln1229Leu) c.3677A>T (p.Gln1226Leu) | |
| 5 | g.37020853G>A | CA443905228 | NIPBL | c.5304G>A (p.Gln1768=) c.1-43725G>A (n.1-43725G>A) c.4560G>A (p.Gln1520=) c.5106G>A (p.Gln1702=) c.4923G>A (p.Gln1641=) c.4644G>A (p.Gln1548=) c.3687G>A (p.Gln1229=) c.3678G>A (p.Gln1226=) | |
| 5 | g.37020853G>C | CA359488362 | NIPBL | c.5304G>C (p.Gln1768His) c.1-43725G>C (n.1-43725G>C) c.4560G>C (p.Gln1520His) c.5106G>C (p.Gln1702His) c.4923G>C (p.Gln1641His) c.4644G>C (p.Gln1548His) c.3687G>C (p.Gln1229His) c.3678G>C (p.Gln1226His) | |
| 5 | g.37020853G>T | CA359488363 | NIPBL | c.5304G>T (p.Gln1768His) c.1-43725G>T (n.1-43725G>T) c.4560G>T (p.Gln1520His) c.5106G>T (p.Gln1702His) c.4923G>T (p.Gln1641His) c.4644G>T (p.Gln1548His) c.3687G>T (p.Gln1229His) c.3678G>T (p.Gln1226His) | |
| 5 | g.37020854A>C | CA359488365 | NIPBL | c.5305A>C (p.Ser1769Arg) c.1-43724A>C (n.1-43724A>C) c.4561A>C (p.Ser1521Arg) c.5107A>C (p.Ser1703Arg) c.4924A>C (p.Ser1642Arg) c.4645A>C (p.Ser1549Arg) c.3688A>C (p.Ser1230Arg) c.3679A>C (p.Ser1227Arg) | |
| 5 | g.37020854A>G | CA359488367 | NIPBL | c.5305A>G (p.Ser1769Gly) c.1-43724A>G (n.1-43724A>G) c.4561A>G (p.Ser1521Gly) c.5107A>G (p.Ser1703Gly) c.4924A>G (p.Ser1642Gly) c.4645A>G (p.Ser1549Gly) c.3688A>G (p.Ser1230Gly) c.3679A>G (p.Ser1227Gly) | |
| 5 | g.37020854A>T | CA359488369 | NIPBL | c.5305A>T (p.Ser1769Cys) c.1-43724A>T (n.1-43724A>T) c.4561A>T (p.Ser1521Cys) c.5107A>T (p.Ser1703Cys) c.4924A>T (p.Ser1642Cys) c.4645A>T (p.Ser1549Cys) c.3688A>T (p.Ser1230Cys) c.3679A>T (p.Ser1227Cys) | |
| 5 | g.37020855G>A | CA3236742 | NIPBL | c.5306G>A (p.Ser1769Asn) c.1-43723G>A (n.1-43723G>A) c.4562G>A (p.Ser1521Asn) c.5108G>A (p.Ser1703Asn) c.4925G>A (p.Ser1642Asn) c.4646G>A (p.Ser1549Asn) c.3689G>A (p.Ser1230Asn) c.3680G>A (p.Ser1227Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020855G>C | CA359488371 | NIPBL | c.5306G>C (p.Ser1769Thr) c.1-43723G>C (n.1-43723G>C) c.4562G>C (p.Ser1521Thr) c.5108G>C (p.Ser1703Thr) c.4925G>C (p.Ser1642Thr) c.4646G>C (p.Ser1549Thr) c.3689G>C (p.Ser1230Thr) c.3680G>C (p.Ser1227Thr) | |
| 5 | g.37020855G= | CA1539584796 | NIPBL | c.5306G= (p.Ser1769=) c.1-43723G= (n.1-43723G=) c.4562G= (p.Ser1521=) c.5108G= (p.Ser1703=) c.4925G= (p.Ser1642=) c.4646G= (p.Ser1549=) c.3689G= (p.Ser1230=) c.3680G= (p.Ser1227=) | |
| 5 | g.37020855G>T | CA359488372 | NIPBL | c.5306G>T (p.Ser1769Ile) c.1-43723G>T (n.1-43723G>T) c.4562G>T (p.Ser1521Ile) c.5108G>T (p.Ser1703Ile) c.4925G>T (p.Ser1642Ile) c.4646G>T (p.Ser1549Ile) c.3689G>T (p.Ser1230Ile) c.3680G>T (p.Ser1227Ile) | |
| 5 | g.37020856C>A | CA359488375 | NIPBL | c.5307C>A (p.Ser1769Arg) c.1-43722C>A (n.1-43722C>A) c.4563C>A (p.Ser1521Arg) c.5109C>A (p.Ser1703Arg) c.4926C>A (p.Ser1642Arg) c.4647C>A (p.Ser1549Arg) c.3690C>A (p.Ser1230Arg) c.3681C>A (p.Ser1227Arg) | |
| 5 | g.37020856C= | CA1539584797 | NIPBL | c.5307C= (p.Ser1769=) c.1-43722C= (n.1-43722C=) c.4563C= (p.Ser1521=) c.5109C= (p.Ser1703=) c.4926C= (p.Ser1642=) c.4647C= (p.Ser1549=) c.3690C= (p.Ser1230=) c.3681C= (p.Ser1227=) | |
| 5 | g.37020856C>G | CA359488376 | NIPBL | c.5307C>G (p.Ser1769Arg) c.1-43722C>G (n.1-43722C>G) c.4563C>G (p.Ser1521Arg) c.5109C>G (p.Ser1703Arg) c.4926C>G (p.Ser1642Arg) c.4647C>G (p.Ser1549Arg) c.3690C>G (p.Ser1230Arg) c.3681C>G (p.Ser1227Arg) | |
| 5 | g.37020856C>T | CA443905229 | NIPBL | c.5307C>T (p.Ser1769=) c.1-43722C>T (n.1-43722C>T) c.4563C>T (p.Ser1521=) c.5109C>T (p.Ser1703=) c.4926C>T (p.Ser1642=) c.4647C>T (p.Ser1549=) c.3690C>T (p.Ser1230=) c.3681C>T (p.Ser1227=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37020857T>A | CA359488379 | NIPBL | c.5308T>A (p.Phe1770Ile) c.1-43721T>A (n.1-43721T>A) c.4564T>A (p.Phe1522Ile) c.5110T>A (p.Phe1704Ile) c.4927T>A (p.Phe1643Ile) c.4648T>A (p.Phe1550Ile) c.3691T>A (p.Phe1231Ile) c.3682T>A (p.Phe1228Ile) | |
| 5 | g.37020857T>C | CA359488381 | NIPBL | c.5308T>C (p.Phe1770Leu) c.1-43721T>C (n.1-43721T>C) c.4564T>C (p.Phe1522Leu) c.5110T>C (p.Phe1704Leu) c.4927T>C (p.Phe1643Leu) c.4648T>C (p.Phe1550Leu) c.3691T>C (p.Phe1231Leu) c.3682T>C (p.Phe1228Leu) | |
| 5 | g.37020857T>G | CA359488385 | NIPBL | c.5308T>G (p.Phe1770Val) c.1-43721T>G (n.1-43721T>G) c.4564T>G (p.Phe1522Val) c.5110T>G (p.Phe1704Val) c.4927T>G (p.Phe1643Val) c.4648T>G (p.Phe1550Val) c.3691T>G (p.Phe1231Val) c.3682T>G (p.Phe1228Val) | |
| 5 | g.37020858T>A | CA359488394 | NIPBL | c.5309T>A (p.Phe1770Tyr) c.1-43720T>A (n.1-43720T>A) c.4565T>A (p.Phe1522Tyr) c.5111T>A (p.Phe1704Tyr) c.4928T>A (p.Phe1643Tyr) c.4649T>A (p.Phe1550Tyr) c.3692T>A (p.Phe1231Tyr) c.3683T>A (p.Phe1228Tyr) | |
| 5 | g.37020858T>C | CA359488404 | NIPBL | c.5309T>C (p.Phe1770Ser) c.1-43720T>C (n.1-43720T>C) c.4565T>C (p.Phe1522Ser) c.5111T>C (p.Phe1704Ser) c.4928T>C (p.Phe1643Ser) c.4649T>C (p.Phe1550Ser) c.3692T>C (p.Phe1231Ser) c.3683T>C (p.Phe1228Ser) | gnomAD v4 |
| 5 | g.37020858T>G | CA359488401 | NIPBL | c.5309T>G (p.Phe1770Cys) c.1-43720T>G (n.1-43720T>G) c.4565T>G (p.Phe1522Cys) c.5111T>G (p.Phe1704Cys) c.4928T>G (p.Phe1643Cys) c.4649T>G (p.Phe1550Cys) c.3692T>G (p.Phe1231Cys) c.3683T>G (p.Phe1228Cys) | |
| 5 | g.37020859T>A | CA359488410 | NIPBL | c.5310T>A (p.Phe1770Leu) c.1-43719T>A (n.1-43719T>A) c.4566T>A (p.Phe1522Leu) c.5112T>A (p.Phe1704Leu) c.4929T>A (p.Phe1643Leu) c.4650T>A (p.Phe1550Leu) c.3693T>A (p.Phe1231Leu) c.3684T>A (p.Phe1228Leu) | |
| 5 | g.37020859T>C | CA443905230 | NIPBL | c.5310T>C (p.Phe1770=) c.1-43719T>C (n.1-43719T>C) c.4566T>C (p.Phe1522=) c.5112T>C (p.Phe1704=) c.4929T>C (p.Phe1643=) c.4650T>C (p.Phe1550=) c.3693T>C (p.Phe1231=) c.3684T>C (p.Phe1228=) | |
| 5 | g.37020859T>G | CA359488412 | NIPBL | c.5310T>G (p.Phe1770Leu) c.1-43719T>G (n.1-43719T>G) c.4566T>G (p.Phe1522Leu) c.5112T>G (p.Phe1704Leu) c.4929T>G (p.Phe1643Leu) c.4650T>G (p.Phe1550Leu) c.3693T>G (p.Phe1231Leu) c.3684T>G (p.Phe1228Leu) | |
| 5 | g.37020860G>A | CA359488416 | NIPBL | c.5311G>A (p.Asp1771Asn) c.1-43718G>A (n.1-43718G>A) c.4567G>A (p.Asp1523Asn) c.5113G>A (p.Asp1705Asn) c.4930G>A (p.Asp1644Asn) c.4651G>A (p.Asp1551Asn) c.3694G>A (p.Asp1232Asn) c.3685G>A (p.Asp1229Asn) | |
| 5 | g.37020860G>C | CA359488418 | NIPBL | c.5311G>C (p.Asp1771His) c.1-43718G>C (n.1-43718G>C) c.4567G>C (p.Asp1523His) c.5113G>C (p.Asp1705His) c.4930G>C (p.Asp1644His) c.4651G>C (p.Asp1551His) c.3694G>C (p.Asp1232His) c.3685G>C (p.Asp1229His) | |
| 5 | g.37020860G>T | CA359488419 | NIPBL | c.5311G>T (p.Asp1771Tyr) c.1-43718G>T (n.1-43718G>T) c.4567G>T (p.Asp1523Tyr) c.5113G>T (p.Asp1705Tyr) c.4930G>T (p.Asp1644Tyr) c.4651G>T (p.Asp1551Tyr) c.3694G>T (p.Asp1232Tyr) c.3685G>T (p.Asp1229Tyr) | |
| 5 | g.37020861A>C | CA359488420 | NIPBL | c.5312A>C (p.Asp1771Ala) c.1-43717A>C (n.1-43717A>C) c.4568A>C (p.Asp1523Ala) c.5114A>C (p.Asp1705Ala) c.4931A>C (p.Asp1644Ala) c.4652A>C (p.Asp1551Ala) c.3695A>C (p.Asp1232Ala) c.3686A>C (p.Asp1229Ala) | dbSNP |
| 5 | g.37020861A>G | CA359488422 | NIPBL | c.5312A>G (p.Asp1771Gly) c.1-43717A>G (n.1-43717A>G) c.4568A>G (p.Asp1523Gly) c.5114A>G (p.Asp1705Gly) c.4931A>G (p.Asp1644Gly) c.4652A>G (p.Asp1551Gly) c.3695A>G (p.Asp1232Gly) c.3686A>G (p.Asp1229Gly) | |
| 5 | g.37020861A>T | CA359488424 | NIPBL | c.5312A>T (p.Asp1771Val) c.1-43717A>T (n.1-43717A>T) c.4568A>T (p.Asp1523Val) c.5114A>T (p.Asp1705Val) c.4931A>T (p.Asp1644Val) c.4652A>T (p.Asp1551Val) c.3695A>T (p.Asp1232Val) c.3686A>T (p.Asp1229Val) | |
| 5 | g.37020862T>A | CA359488430 | NIPBL | c.5313T>A (p.Asp1771Glu) c.1-43716T>A (n.1-43716T>A) c.4569T>A (p.Asp1523Glu) c.5115T>A (p.Asp1705Glu) c.4932T>A (p.Asp1644Glu) c.4653T>A (p.Asp1551Glu) c.3696T>A (p.Asp1232Glu) c.3687T>A (p.Asp1229Glu) | |
| 5 | g.37020862T>C | CA443905231 | NIPBL | c.5313T>C (p.Asp1771=) c.1-43716T>C (n.1-43716T>C) c.4569T>C (p.Asp1523=) c.5115T>C (p.Asp1705=) c.4932T>C (p.Asp1644=) c.4653T>C (p.Asp1551=) c.3696T>C (p.Asp1232=) c.3687T>C (p.Asp1229=) | |
| 5 | g.37020862T>G | CA359488433 | NIPBL | c.5313T>G (p.Asp1771Glu) c.1-43716T>G (n.1-43716T>G) c.4569T>G (p.Asp1523Glu) c.5115T>G (p.Asp1705Glu) c.4932T>G (p.Asp1644Glu) c.4653T>G (p.Asp1551Glu) c.3696T>G (p.Asp1232Glu) c.3687T>G (p.Asp1229Glu) | |
| 5 | g.37020863A>C | CA359488438 | NIPBL | c.5314A>C (p.Ile1772Leu) c.1-43715A>C (n.1-43715A>C) c.4570A>C (p.Ile1524Leu) c.5116A>C (p.Ile1706Leu) c.4933A>C (p.Ile1645Leu) c.4654A>C (p.Ile1552Leu) c.3697A>C (p.Ile1233Leu) c.3688A>C (p.Ile1230Leu) | |
| 5 | g.37020863A>G | CA359488448 | NIPBL | c.5314A>G (p.Ile1772Val) c.1-43715A>G (n.1-43715A>G) c.4570A>G (p.Ile1524Val) c.5116A>G (p.Ile1706Val) c.4933A>G (p.Ile1645Val) c.4654A>G (p.Ile1552Val) c.3697A>G (p.Ile1233Val) c.3688A>G (p.Ile1230Val) | gnomAD v4 |
| 5 | g.37020863A>T | CA359488450 | NIPBL | c.5314A>T (p.Ile1772Phe) c.1-43715A>T (n.1-43715A>T) c.4570A>T (p.Ile1524Phe) c.5116A>T (p.Ile1706Phe) c.4933A>T (p.Ile1645Phe) c.4654A>T (p.Ile1552Phe) c.3697A>T (p.Ile1233Phe) c.3688A>T (p.Ile1230Phe) | COSMIC COSMIC |
| 5 | g.37020864T>A | CA359488459 | NIPBL | c.5315T>A (p.Ile1772Asn) c.1-43714T>A (n.1-43714T>A) c.4571T>A (p.Ile1524Asn) c.5117T>A (p.Ile1706Asn) c.4934T>A (p.Ile1645Asn) c.4655T>A (p.Ile1552Asn) c.3698T>A (p.Ile1233Asn) c.3689T>A (p.Ile1230Asn) | |
| 5 | g.37020864T>C | CA359488453 | NIPBL | c.5315T>C (p.Ile1772Thr) c.1-43714T>C (n.1-43714T>C) c.4571T>C (p.Ile1524Thr) c.5117T>C (p.Ile1706Thr) c.4934T>C (p.Ile1645Thr) c.4655T>C (p.Ile1552Thr) c.3698T>C (p.Ile1233Thr) c.3689T>C (p.Ile1230Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020864T>G | CA359488456 | NIPBL | c.5315T>G (p.Ile1772Ser) c.1-43714T>G (n.1-43714T>G) c.4571T>G (p.Ile1524Ser) c.5117T>G (p.Ile1706Ser) c.4934T>G (p.Ile1645Ser) c.4655T>G (p.Ile1552Ser) c.3698T>G (p.Ile1233Ser) c.3689T>G (p.Ile1230Ser) | |
| 5 | g.37020864T= | CA1539584798 | NIPBL | c.5315T= (p.Ile1772=) c.1-43714T= (n.1-43714T=) c.4571T= (p.Ile1524=) c.5117T= (p.Ile1706=) c.4934T= (p.Ile1645=) c.4655T= (p.Ile1552=) c.3698T= (p.Ile1233=) c.3689T= (p.Ile1230=) | |
| 5 | g.37020865T>A | CA443905232 | NIPBL | c.5316T>A (p.Ile1772=) c.1-43713T>A (n.1-43713T>A) c.4572T>A (p.Ile1524=) c.5118T>A (p.Ile1706=) c.4935T>A (p.Ile1645=) c.4656T>A (p.Ile1552=) c.3699T>A (p.Ile1233=) c.3690T>A (p.Ile1230=) | |
| 5 | g.37020865T>C | CA443905233 | NIPBL | c.5316T>C (p.Ile1772=) c.1-43713T>C (n.1-43713T>C) c.4572T>C (p.Ile1524=) c.5118T>C (p.Ile1706=) c.4935T>C (p.Ile1645=) c.4656T>C (p.Ile1552=) c.3699T>C (p.Ile1233=) c.3690T>C (p.Ile1230=) | |
| 5 | g.37020865T>G | CA359488462 | NIPBL | c.5316T>G (p.Ile1772Met) c.1-43713T>G (n.1-43713T>G) c.4572T>G (p.Ile1524Met) c.5118T>G (p.Ile1706Met) c.4935T>G (p.Ile1645Met) c.4656T>G (p.Ile1552Met) c.3699T>G (p.Ile1233Met) c.3690T>G (p.Ile1230Met) | |
| 5 | g.37020866T>A | CA359488467 | NIPBL | c.5317T>A (p.Tyr1773Asn) c.1-43712T>A (n.1-43712T>A) c.4573T>A (p.Tyr1525Asn) c.5119T>A (p.Tyr1707Asn) c.4936T>A (p.Tyr1646Asn) c.4657T>A (p.Tyr1553Asn) c.3700T>A (p.Tyr1234Asn) c.3691T>A (p.Tyr1231Asn) | |
| 5 | g.37020866T>C | CA359488471 | NIPBL | c.5317T>C (p.Tyr1773His) c.1-43712T>C (n.1-43712T>C) c.4573T>C (p.Tyr1525His) c.5119T>C (p.Tyr1707His) c.4936T>C (p.Tyr1646His) c.4657T>C (p.Tyr1553His) c.3700T>C (p.Tyr1234His) c.3691T>C (p.Tyr1231His) | |
| 5 | g.37020866T>G | CA359488474 | NIPBL | c.5317T>G (p.Tyr1773Asp) c.1-43712T>G (n.1-43712T>G) c.4573T>G (p.Tyr1525Asp) c.5119T>G (p.Tyr1707Asp) c.4936T>G (p.Tyr1646Asp) c.4657T>G (p.Tyr1553Asp) c.3700T>G (p.Tyr1234Asp) c.3691T>G (p.Tyr1231Asp) | |
| 5 | g.37020867A>C | CA359488478 | NIPBL | c.5318A>C (p.Tyr1773Ser) c.1-43711A>C (n.1-43711A>C) c.4574A>C (p.Tyr1525Ser) c.5120A>C (p.Tyr1707Ser) c.4937A>C (p.Tyr1646Ser) c.4658A>C (p.Tyr1553Ser) c.3701A>C (p.Tyr1234Ser) c.3692A>C (p.Tyr1231Ser) | |
| 5 | g.37020867A>G | CA359488481 | NIPBL | c.5318A>G (p.Tyr1773Cys) c.1-43711A>G (n.1-43711A>G) c.4574A>G (p.Tyr1525Cys) c.5120A>G (p.Tyr1707Cys) c.4937A>G (p.Tyr1646Cys) c.4658A>G (p.Tyr1553Cys) c.3701A>G (p.Tyr1234Cys) c.3692A>G (p.Tyr1231Cys) | gnomAD v4 |
| 5 | g.37020867A>T | CA359488482 | NIPBL | c.5318A>T (p.Tyr1773Phe) c.1-43711A>T (n.1-43711A>T) c.4574A>T (p.Tyr1525Phe) c.5120A>T (p.Tyr1707Phe) c.4937A>T (p.Tyr1646Phe) c.4658A>T (p.Tyr1553Phe) c.3701A>T (p.Tyr1234Phe) c.3692A>T (p.Tyr1231Phe) | |
| 5 | g.37020868T>A | CA359488484 | NIPBL | c.5319T>A (p.Tyr1773Ter) c.1-43710T>A (n.1-43710T>A) c.4575T>A (p.Tyr1525Ter) c.5121T>A (p.Tyr1707Ter) c.4938T>A (p.Tyr1646Ter) c.4659T>A (p.Tyr1553Ter) c.3702T>A (p.Tyr1234Ter) c.3693T>A (p.Tyr1231Ter) | |
| 5 | g.37020868T>C | CA443905234 | NIPBL | c.5319T>C (p.Tyr1773=) c.1-43710T>C (n.1-43710T>C) c.4575T>C (p.Tyr1525=) c.5121T>C (p.Tyr1707=) c.4938T>C (p.Tyr1646=) c.4659T>C (p.Tyr1553=) c.3702T>C (p.Tyr1234=) c.3693T>C (p.Tyr1231=) | gnomAD v4 |
| 5 | g.37020868T>G | CA359488487 | NIPBL | c.5319T>G (p.Tyr1773Ter) c.1-43710T>G (n.1-43710T>G) c.4575T>G (p.Tyr1525Ter) c.5121T>G (p.Tyr1707Ter) c.4938T>G (p.Tyr1646Ter) c.4659T>G (p.Tyr1553Ter) c.3702T>G (p.Tyr1234Ter) c.3693T>G (p.Tyr1231Ter) | |
| 5 | g.37020869T>A | CA359488489 | NIPBL | c.5320T>A (p.Leu1774Met) c.1-43709T>A (n.1-43709T>A) c.4576T>A (p.Leu1526Met) c.5122T>A (p.Leu1708Met) c.4939T>A (p.Leu1647Met) c.4660T>A (p.Leu1554Met) c.3703T>A (p.Leu1235Met) c.3694T>A (p.Leu1232Met) | |
| 5 | g.37020869T>C | CA443905235 | NIPBL | c.5320T>C (p.Leu1774=) c.1-43709T>C (n.1-43709T>C) c.4576T>C (p.Leu1526=) c.5122T>C (p.Leu1708=) c.4939T>C (p.Leu1647=) c.4660T>C (p.Leu1554=) c.3703T>C (p.Leu1235=) c.3694T>C (p.Leu1232=) | |
| 5 | g.37020869T>G | CA359488490 | NIPBL | c.5320T>G (p.Leu1774Val) c.1-43709T>G (n.1-43709T>G) c.4576T>G (p.Leu1526Val) c.5122T>G (p.Leu1708Val) c.4939T>G (p.Leu1647Val) c.4660T>G (p.Leu1554Val) c.3703T>G (p.Leu1235Val) c.3694T>G (p.Leu1232Val) | |
| 5 | g.37020870T>A | CA359488491 | NIPBL | c.5321T>A (p.Leu1774Ter) c.1-43708T>A (n.1-43708T>A) c.4577T>A (p.Leu1526Ter) c.5123T>A (p.Leu1708Ter) c.4940T>A (p.Leu1647Ter) c.4661T>A (p.Leu1554Ter) c.3704T>A (p.Leu1235Ter) c.3695T>A (p.Leu1232Ter) | |
| 5 | g.37020870T>C | CA359488493 | NIPBL | c.5321T>C (p.Leu1774Ser) c.1-43708T>C (n.1-43708T>C) c.4577T>C (p.Leu1526Ser) c.5123T>C (p.Leu1708Ser) c.4940T>C (p.Leu1647Ser) c.4661T>C (p.Leu1554Ser) c.3704T>C (p.Leu1235Ser) c.3695T>C (p.Leu1232Ser) | |
| 5 | g.37020870T>G | CA359488492 | NIPBL | c.5321T>G (p.Leu1774Trp) c.1-43708T>G (n.1-43708T>G) c.4577T>G (p.Leu1526Trp) c.5123T>G (p.Leu1708Trp) c.4940T>G (p.Leu1647Trp) c.4661T>G (p.Leu1554Trp) c.3704T>G (p.Leu1235Trp) c.3695T>G (p.Leu1232Trp) | |
| 5 | g.37020871G>A | CA443905236 | NIPBL | c.5322G>A (p.Leu1774=) c.1-43707G>A (n.1-43707G>A) c.4578G>A (p.Leu1526=) c.5124G>A (p.Leu1708=) c.4941G>A (p.Leu1647=) c.4662G>A (p.Leu1554=) c.3705G>A (p.Leu1235=) c.3696G>A (p.Leu1232=) | |
| 5 | g.37020871G>C | CA359488496 | NIPBL | c.5322G>C (p.Leu1774Phe) c.1-43707G>C (n.1-43707G>C) c.4578G>C (p.Leu1526Phe) c.5124G>C (p.Leu1708Phe) c.4941G>C (p.Leu1647Phe) c.4662G>C (p.Leu1554Phe) c.3705G>C (p.Leu1235Phe) c.3696G>C (p.Leu1232Phe) | |
| 5 | g.37020871G>T | CA359488503 | NIPBL | c.5322G>T (p.Leu1774Phe) c.1-43707G>T (n.1-43707G>T) c.4578G>T (p.Leu1526Phe) c.5124G>T (p.Leu1708Phe) c.4941G>T (p.Leu1647Phe) c.4662G>T (p.Leu1554Phe) c.3705G>T (p.Leu1235Phe) c.3696G>T (p.Leu1232Phe) | gnomAD v4 |
| 5 | g.37020872A>C | CA359488506 | NIPBL | c.5323A>C (p.Thr1775Pro) c.1-43706A>C (n.1-43706A>C) c.4579A>C (p.Thr1527Pro) c.5125A>C (p.Thr1709Pro) c.4942A>C (p.Thr1648Pro) c.4663A>C (p.Thr1555Pro) c.3706A>C (p.Thr1236Pro) c.3697A>C (p.Thr1233Pro) | |
| 5 | g.37020872A>G | CA359488510 | NIPBL | c.5323A>G (p.Thr1775Ala) c.1-43706A>G (n.1-43706A>G) c.4579A>G (p.Thr1527Ala) c.5125A>G (p.Thr1709Ala) c.4942A>G (p.Thr1648Ala) c.4663A>G (p.Thr1555Ala) c.3706A>G (p.Thr1236Ala) c.3697A>G (p.Thr1233Ala) | |
| 5 | g.37020872A>T | CA359488508 | NIPBL | c.5323A>T (p.Thr1775Ser) c.1-43706A>T (n.1-43706A>T) c.4579A>T (p.Thr1527Ser) c.5125A>T (p.Thr1709Ser) c.4942A>T (p.Thr1648Ser) c.4663A>T (p.Thr1555Ser) c.3706A>T (p.Thr1236Ser) c.3697A>T (p.Thr1233Ser) | |
| 5 | g.37020873C>A | CA359488512 | NIPBL | c.5324C>A (p.Thr1775Lys) c.1-43705C>A (n.1-43705C>A) c.4580C>A (p.Thr1527Lys) c.5126C>A (p.Thr1709Lys) c.4943C>A (p.Thr1648Lys) c.4664C>A (p.Thr1555Lys) c.3707C>A (p.Thr1236Lys) c.3698C>A (p.Thr1233Lys) | |
| 5 | g.37020873C>G | CA359488514 | NIPBL | c.5324C>G (p.Thr1775Arg) c.1-43705C>G (n.1-43705C>G) c.4580C>G (p.Thr1527Arg) c.5126C>G (p.Thr1709Arg) c.4943C>G (p.Thr1648Arg) c.4664C>G (p.Thr1555Arg) c.3707C>G (p.Thr1236Arg) c.3698C>G (p.Thr1233Arg) | |
| 5 | g.37020873C>T | CA359488516 | NIPBL | c.5324C>T (p.Thr1775Ile) c.1-43705C>T (n.1-43705C>T) c.4580C>T (p.Thr1527Ile) c.5126C>T (p.Thr1709Ile) c.4943C>T (p.Thr1648Ile) c.4664C>T (p.Thr1555Ile) c.3707C>T (p.Thr1236Ile) c.3698C>T (p.Thr1233Ile) | |
| 5 | g.37020874A>C | CA443905237 | NIPBL | c.5325A>C (p.Thr1775=) c.1-43704A>C (n.1-43704A>C) c.4581A>C (p.Thr1527=) c.5127A>C (p.Thr1709=) c.4944A>C (p.Thr1648=) c.4665A>C (p.Thr1555=) c.3708A>C (p.Thr1236=) c.3699A>C (p.Thr1233=) | |
| 5 | g.37020874A>G | CA443905238 | NIPBL | c.5325A>G (p.Thr1775=) c.1-43704A>G (n.1-43704A>G) c.4581A>G (p.Thr1527=) c.5127A>G (p.Thr1709=) c.4944A>G (p.Thr1648=) c.4665A>G (p.Thr1555=) c.3708A>G (p.Thr1236=) c.3699A>G (p.Thr1233=) | |
| 5 | g.37020874A>T | CA443905239 | NIPBL | c.5325A>T (p.Thr1775=) c.1-43704A>T (n.1-43704A>T) c.4581A>T (p.Thr1527=) c.5127A>T (p.Thr1709=) c.4944A>T (p.Thr1648=) c.4665A>T (p.Thr1555=) c.3708A>T (p.Thr1236=) c.3699A>T (p.Thr1233=) | |
| 5 | g.37020875C>A | CA359488519 | NIPBL | c.5326C>A (p.Gln1776Lys) c.1-43703C>A (n.1-43703C>A) c.4582C>A (p.Gln1528Lys) c.5128C>A (p.Gln1710Lys) c.4945C>A (p.Gln1649Lys) c.4666C>A (p.Gln1556Lys) c.3709C>A (p.Gln1237Lys) c.3700C>A (p.Gln1234Lys) | gnomAD v4 |
| 5 | g.37020875C>G | CA359488523 | NIPBL | c.5326C>G (p.Gln1776Glu) c.1-43703C>G (n.1-43703C>G) c.4582C>G (p.Gln1528Glu) c.5128C>G (p.Gln1710Glu) c.4945C>G (p.Gln1649Glu) c.4666C>G (p.Gln1556Glu) c.3709C>G (p.Gln1237Glu) c.3700C>G (p.Gln1234Glu) | |
| 5 | g.37020875C>T | CA359488524 | NIPBL | c.5326C>T (p.Gln1776Ter) c.1-43703C>T (n.1-43703C>T) c.4582C>T (p.Gln1528Ter) c.5128C>T (p.Gln1710Ter) c.4945C>T (p.Gln1649Ter) c.4666C>T (p.Gln1556Ter) c.3709C>T (p.Gln1237Ter) c.3700C>T (p.Gln1234Ter) |