Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.37020503T>A | CA443904925 | NIPBL | c.5055T>A (p.Thr1685=) c.1-44075T>A (n.1-44075T>A) c.4311T>A (p.Thr1437=) c.4857T>A (p.Thr1619=) c.4674T>A (p.Thr1558=) c.4395T>A (p.Thr1465=) c.3438T>A (p.Thr1146=) c.3429T>A (p.Thr1143=) | |
5 | g.37020503T>C | CA443904926 | NIPBL | c.5055T>C (p.Thr1685=) c.1-44075T>C (n.1-44075T>C) c.4311T>C (p.Thr1437=) c.4857T>C (p.Thr1619=) c.4674T>C (p.Thr1558=) c.4395T>C (p.Thr1465=) c.3438T>C (p.Thr1146=) c.3429T>C (p.Thr1143=) | |
5 | g.37020503T>G | CA443904927 | NIPBL | c.5055T>G (p.Thr1685=) c.1-44075T>G (n.1-44075T>G) c.4311T>G (p.Thr1437=) c.4857T>G (p.Thr1619=) c.4674T>G (p.Thr1558=) c.4395T>G (p.Thr1465=) c.3438T>G (p.Thr1146=) c.3429T>G (p.Thr1143=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.37020503T= | CA1539619195 | NIPBL | c.5055T= (p.Thr1685=) c.1-44075T= (n.1-44075T=) c.4311T= (p.Thr1437=) c.4857T= (p.Thr1619=) c.4674T= (p.Thr1558=) c.4395T= (p.Thr1465=) c.3438T= (p.Thr1146=) c.3429T= (p.Thr1143=) | |
5 | g.37020504C>A | CA359486481 | NIPBL | c.5056C>A (p.Leu1686Met) c.1-44074C>A (n.1-44074C>A) c.4312C>A (p.Leu1438Met) c.4858C>A (p.Leu1620Met) c.4675C>A (p.Leu1559Met) c.4396C>A (p.Leu1466Met) c.3439C>A (p.Leu1147Met) c.3430C>A (p.Leu1144Met) | |
5 | g.37020504C= | CA1539619198 | NIPBL | c.5056C= (p.Leu1686=) c.1-44074C= (n.1-44074C=) c.4312C= (p.Leu1438=) c.4858C= (p.Leu1620=) c.4675C= (p.Leu1559=) c.4396C= (p.Leu1466=) c.3439C= (p.Leu1147=) c.3430C= (p.Leu1144=) | |
5 | g.37020504C>G | CA359486484 | NIPBL | c.5056C>G (p.Leu1686Val) c.1-44074C>G (n.1-44074C>G) c.4312C>G (p.Leu1438Val) c.4858C>G (p.Leu1620Val) c.4675C>G (p.Leu1559Val) c.4396C>G (p.Leu1466Val) c.3439C>G (p.Leu1147Val) c.3430C>G (p.Leu1144Val) | gnomAD v4 |
5 | g.37020504C>T | CA3236695 | NIPBL | c.5056C>T (p.Leu1686=) c.1-44074C>T (n.1-44074C>T) c.4312C>T (p.Leu1438=) c.4858C>T (p.Leu1620=) c.4675C>T (p.Leu1559=) c.4396C>T (p.Leu1466=) c.3439C>T (p.Leu1147=) c.3430C>T (p.Leu1144=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.37020505T>A | CA359486490 | NIPBL | c.5057T>A (p.Leu1686Gln) c.1-44073T>A (n.1-44073T>A) c.4313T>A (p.Leu1438Gln) c.4859T>A (p.Leu1620Gln) c.4676T>A (p.Leu1559Gln) c.4397T>A (p.Leu1466Gln) c.3440T>A (p.Leu1147Gln) c.3431T>A (p.Leu1144Gln) | |
5 | g.37020505T>C | CA359486493 | NIPBL | c.5057T>C (p.Leu1686Pro) c.1-44073T>C (n.1-44073T>C) c.4313T>C (p.Leu1438Pro) c.4859T>C (p.Leu1620Pro) c.4676T>C (p.Leu1559Pro) c.4397T>C (p.Leu1466Pro) c.3440T>C (p.Leu1147Pro) c.3431T>C (p.Leu1144Pro) | gnomAD v4 |
5 | g.37020505T>G | CA359486496 | NIPBL | c.5057T>G (p.Leu1686Arg) c.1-44073T>G (n.1-44073T>G) c.4313T>G (p.Leu1438Arg) c.4859T>G (p.Leu1620Arg) c.4676T>G (p.Leu1559Arg) c.4397T>G (p.Leu1466Arg) c.3440T>G (p.Leu1147Arg) c.3431T>G (p.Leu1144Arg) | |
5 | g.37020506G>A | CA443904933 | NIPBL | c.5058G>A (p.Leu1686=) c.1-44072G>A (n.1-44072G>A) c.4314G>A (p.Leu1438=) c.4860G>A (p.Leu1620=) c.4677G>A (p.Leu1559=) c.4398G>A (p.Leu1466=) c.3441G>A (p.Leu1147=) c.3432G>A (p.Leu1144=) | |
5 | g.37020506G>C | CA443904932 | NIPBL | c.5058G>C (p.Leu1686=) c.1-44072G>C (n.1-44072G>C) c.4314G>C (p.Leu1438=) c.4860G>C (p.Leu1620=) c.4677G>C (p.Leu1559=) c.4398G>C (p.Leu1466=) c.3441G>C (p.Leu1147=) c.3432G>C (p.Leu1144=) | |
5 | g.37020506G>T | CA443904931 | NIPBL | c.5058G>T (p.Leu1686=) c.1-44072G>T (n.1-44072G>T) c.4314G>T (p.Leu1438=) c.4860G>T (p.Leu1620=) c.4677G>T (p.Leu1559=) c.4398G>T (p.Leu1466=) c.3441G>T (p.Leu1147=) c.3432G>T (p.Leu1144=) | |
5 | g.37020507G>A | CA359486501 | NIPBL | c.5059G>A (p.Glu1687Lys) c.1-44071G>A (n.1-44071G>A) c.4315G>A (p.Glu1439Lys) c.4861G>A (p.Glu1621Lys) c.4678G>A (p.Glu1560Lys) c.4399G>A (p.Glu1467Lys) c.3442G>A (p.Glu1148Lys) c.3433G>A (p.Glu1145Lys) | |
5 | g.37020507G>C | CA359486505 | NIPBL | c.5059G>C (p.Glu1687Gln) c.1-44071G>C (n.1-44071G>C) c.4315G>C (p.Glu1439Gln) c.4861G>C (p.Glu1621Gln) c.4678G>C (p.Glu1560Gln) c.4399G>C (p.Glu1467Gln) c.3442G>C (p.Glu1148Gln) c.3433G>C (p.Glu1145Gln) | |
5 | g.37020507G>T | CA359486499 | NIPBL | c.5059G>T (p.Glu1687Ter) c.1-44071G>T (n.1-44071G>T) c.4315G>T (p.Glu1439Ter) c.4861G>T (p.Glu1621Ter) c.4678G>T (p.Glu1560Ter) c.4399G>T (p.Glu1467Ter) c.3442G>T (p.Glu1148Ter) c.3433G>T (p.Glu1145Ter) | |
5 | g.37020508A= | CA1539619201 | NIPBL | c.5060A= (p.Glu1687=) c.1-44070A= (n.1-44070A=) c.4316A= (p.Glu1439=) c.4862A= (p.Glu1621=) c.4679A= (p.Glu1560=) c.4400A= (p.Glu1467=) c.3443A= (p.Glu1148=) c.3434A= (p.Glu1145=) | |
5 | g.37020508A>C | CA359486508 | NIPBL | c.5060A>C (p.Glu1687Ala) c.1-44070A>C (n.1-44070A>C) c.4316A>C (p.Glu1439Ala) c.4862A>C (p.Glu1621Ala) c.4679A>C (p.Glu1560Ala) c.4400A>C (p.Glu1467Ala) c.3443A>C (p.Glu1148Ala) c.3434A>C (p.Glu1145Ala) | |
5 | g.37020508A>G | CA117027962 | NIPBL | c.5060A>G (p.Glu1687Gly) c.1-44070A>G (n.1-44070A>G) c.4316A>G (p.Glu1439Gly) c.4862A>G (p.Glu1621Gly) c.4679A>G (p.Glu1560Gly) c.4400A>G (p.Glu1467Gly) c.3443A>G (p.Glu1148Gly) c.3434A>G (p.Glu1145Gly) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.37020508A>T | CA359486511 | NIPBL | c.5060A>T (p.Glu1687Val) c.1-44070A>T (n.1-44070A>T) c.4316A>T (p.Glu1439Val) c.4862A>T (p.Glu1621Val) c.4679A>T (p.Glu1560Val) c.4400A>T (p.Glu1467Val) c.3443A>T (p.Glu1148Val) c.3434A>T (p.Glu1145Val) | |
5 | g.37020509A= | CA1539619203 | NIPBL | c.5061A= (p.Glu1687=) c.1-44069A= (n.1-44069A=) c.4317A= (p.Glu1439=) c.4863A= (p.Glu1621=) c.4680A= (p.Glu1560=) c.4401A= (p.Glu1467=) c.3444A= (p.Glu1148=) c.3435A= (p.Glu1145=) | |
5 | g.37020509A>C | CA359486514 | NIPBL | c.5061A>C (p.Glu1687Asp) c.1-44069A>C (n.1-44069A>C) c.4317A>C (p.Glu1439Asp) c.4863A>C (p.Glu1621Asp) c.4680A>C (p.Glu1560Asp) c.4401A>C (p.Glu1467Asp) c.3444A>C (p.Glu1148Asp) c.3435A>C (p.Glu1145Asp) | |
5 | g.37020509A>G | CA443904935 | NIPBL | c.5061A>G (p.Glu1687=) c.1-44069A>G (n.1-44069A>G) c.4317A>G (p.Glu1439=) c.4863A>G (p.Glu1621=) c.4680A>G (p.Glu1560=) c.4401A>G (p.Glu1467=) c.3444A>G (p.Glu1148=) c.3435A>G (p.Glu1145=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37020509A>T | CA359486517 | NIPBL | c.5061A>T (p.Glu1687Asp) c.1-44069A>T (n.1-44069A>T) c.4317A>T (p.Glu1439Asp) c.4863A>T (p.Glu1621Asp) c.4680A>T (p.Glu1560Asp) c.4401A>T (p.Glu1467Asp) c.3444A>T (p.Glu1148Asp) c.3435A>T (p.Glu1145Asp) | |
5 | g.37020510A= | CA1539619206 | NIPBL | c.5062A= (p.Thr1688=) c.1-44068A= (n.1-44068A=) c.4318A= (p.Thr1440=) c.4864A= (p.Thr1622=) c.4681A= (p.Thr1561=) c.4402A= (p.Thr1468=) c.3445A= (p.Thr1149=) c.3436A= (p.Thr1146=) | |
5 | g.37020510A>C | CA359486527 | NIPBL | c.5062A>C (p.Thr1688Pro) c.1-44068A>C (n.1-44068A>C) c.4318A>C (p.Thr1440Pro) c.4864A>C (p.Thr1622Pro) c.4681A>C (p.Thr1561Pro) c.4402A>C (p.Thr1468Pro) c.3445A>C (p.Thr1149Pro) c.3436A>C (p.Thr1146Pro) | |
5 | g.37020510A>G | CA359486524 | NIPBL | c.5062A>G (p.Thr1688Ala) c.1-44068A>G (n.1-44068A>G) c.4318A>G (p.Thr1440Ala) c.4864A>G (p.Thr1622Ala) c.4681A>G (p.Thr1561Ala) c.4402A>G (p.Thr1468Ala) c.3445A>G (p.Thr1149Ala) c.3436A>G (p.Thr1146Ala) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37020510A>T | CA359486521 | NIPBL | c.5062A>T (p.Thr1688Ser) c.1-44068A>T (n.1-44068A>T) c.4318A>T (p.Thr1440Ser) c.4864A>T (p.Thr1622Ser) c.4681A>T (p.Thr1561Ser) c.4402A>T (p.Thr1468Ser) c.3445A>T (p.Thr1149Ser) c.3436A>T (p.Thr1146Ser) | |
5 | g.37020511C>A | CA359486529 | NIPBL | c.5063C>A (p.Thr1688Lys) c.1-44067C>A (n.1-44067C>A) c.4319C>A (p.Thr1440Lys) c.4865C>A (p.Thr1622Lys) c.4682C>A (p.Thr1561Lys) c.4403C>A (p.Thr1468Lys) c.3446C>A (p.Thr1149Lys) c.3437C>A (p.Thr1146Lys) | |
5 | g.37020511C= | CA1539619210 | NIPBL | c.5063C= (p.Thr1688=) c.1-44067C= (n.1-44067C=) c.4319C= (p.Thr1440=) c.4865C= (p.Thr1622=) c.4682C= (p.Thr1561=) c.4403C= (p.Thr1468=) c.3446C= (p.Thr1149=) c.3437C= (p.Thr1146=) | |
5 | g.37020511C>G | CA359486532 | NIPBL | c.5063C>G (p.Thr1688Arg) c.1-44067C>G (n.1-44067C>G) c.4319C>G (p.Thr1440Arg) c.4865C>G (p.Thr1622Arg) c.4682C>G (p.Thr1561Arg) c.4403C>G (p.Thr1468Arg) c.3446C>G (p.Thr1149Arg) c.3437C>G (p.Thr1146Arg) | |
5 | g.37020511C>T | CA3236696 | NIPBL | c.5063C>T (p.Thr1688Ile) c.1-44067C>T (n.1-44067C>T) c.4319C>T (p.Thr1440Ile) c.4865C>T (p.Thr1622Ile) c.4682C>T (p.Thr1561Ile) c.4403C>T (p.Thr1468Ile) c.3446C>T (p.Thr1149Ile) c.3437C>T (p.Thr1146Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.37020512A>C | CA443904939 | NIPBL | c.5064A>C (p.Thr1688=) c.1-44066A>C (n.1-44066A>C) c.4320A>C (p.Thr1440=) c.4866A>C (p.Thr1622=) c.4683A>C (p.Thr1561=) c.4404A>C (p.Thr1468=) c.3447A>C (p.Thr1149=) c.3438A>C (p.Thr1146=) | |
5 | g.37020512A>G | CA443904940 | NIPBL | c.5064A>G (p.Thr1688=) c.1-44066A>G (n.1-44066A>G) c.4320A>G (p.Thr1440=) c.4866A>G (p.Thr1622=) c.4683A>G (p.Thr1561=) c.4404A>G (p.Thr1468=) c.3447A>G (p.Thr1149=) c.3438A>G (p.Thr1146=) | |
5 | g.37020512A>T | CA443904941 | NIPBL | c.5064A>T (p.Thr1688=) c.1-44066A>T (n.1-44066A>T) c.4320A>T (p.Thr1440=) c.4866A>T (p.Thr1622=) c.4683A>T (p.Thr1561=) c.4404A>T (p.Thr1468=) c.3447A>T (p.Thr1149=) c.3438A>T (p.Thr1146=) | |
5 | g.37020513G>A | CA359486538 | NIPBL | c.5065G>A (p.Glu1689Lys) c.1-44065G>A (n.1-44065G>A) c.4321G>A (p.Glu1441Lys) c.4867G>A (p.Glu1623Lys) c.4684G>A (p.Glu1562Lys) c.4405G>A (p.Glu1469Lys) c.3448G>A (p.Glu1150Lys) c.3439G>A (p.Glu1147Lys) | |
5 | g.37020513G>C | CA359486540 | NIPBL | c.5065G>C (p.Glu1689Gln) c.1-44065G>C (n.1-44065G>C) c.4321G>C (p.Glu1441Gln) c.4867G>C (p.Glu1623Gln) c.4684G>C (p.Glu1562Gln) c.4405G>C (p.Glu1469Gln) c.3448G>C (p.Glu1150Gln) c.3439G>C (p.Glu1147Gln) | |
5 | g.37020513G>T | CA359486543 | NIPBL | c.5065G>T (p.Glu1689Ter) c.1-44065G>T (n.1-44065G>T) c.4321G>T (p.Glu1441Ter) c.4867G>T (p.Glu1623Ter) c.4684G>T (p.Glu1562Ter) c.4405G>T (p.Glu1469Ter) c.3448G>T (p.Glu1150Ter) c.3439G>T (p.Glu1147Ter) | |
5 | g.37020514A>C | CA359486545 | NIPBL | c.5066A>C (p.Glu1689Ala) c.1-44064A>C (n.1-44064A>C) c.4322A>C (p.Glu1441Ala) c.4868A>C (p.Glu1623Ala) c.4685A>C (p.Glu1562Ala) c.4406A>C (p.Glu1469Ala) c.3449A>C (p.Glu1150Ala) c.3440A>C (p.Glu1147Ala) | |
5 | g.37020514A>G | CA359486551 | NIPBL | c.5066A>G (p.Glu1689Gly) c.1-44064A>G (n.1-44064A>G) c.4322A>G (p.Glu1441Gly) c.4868A>G (p.Glu1623Gly) c.4685A>G (p.Glu1562Gly) c.4406A>G (p.Glu1469Gly) c.3449A>G (p.Glu1150Gly) c.3440A>G (p.Glu1147Gly) | |
5 | g.37020514A>T | CA359486548 | NIPBL | c.5066A>T (p.Glu1689Val) c.1-44064A>T (n.1-44064A>T) c.4322A>T (p.Glu1441Val) c.4868A>T (p.Glu1623Val) c.4685A>T (p.Glu1562Val) c.4406A>T (p.Glu1469Val) c.3449A>T (p.Glu1150Val) c.3440A>T (p.Glu1147Val) | |
5 | g.37020515A= | CA1539619213 | NIPBL | c.5067A= (p.Glu1689=) c.1-44063A= (n.1-44063A=) c.4323A= (p.Glu1441=) c.4869A= (p.Glu1623=) c.4686A= (p.Glu1562=) c.4407A= (p.Glu1469=) c.3450A= (p.Glu1150=) c.3441A= (p.Glu1147=) | |
5 | g.37020515A>C | CA359486553 | NIPBL | c.5067A>C (p.Glu1689Asp) c.1-44063A>C (n.1-44063A>C) c.4323A>C (p.Glu1441Asp) c.4869A>C (p.Glu1623Asp) c.4686A>C (p.Glu1562Asp) c.4407A>C (p.Glu1469Asp) c.3450A>C (p.Glu1150Asp) c.3441A>C (p.Glu1147Asp) | |
5 | g.37020515A>G | CA3236697 | NIPBL | c.5067A>G (p.Glu1689=) c.1-44063A>G (n.1-44063A>G) c.4323A>G (p.Glu1441=) c.4869A>G (p.Glu1623=) c.4686A>G (p.Glu1562=) c.4407A>G (p.Glu1469=) c.3450A>G (p.Glu1150=) c.3441A>G (p.Glu1147=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.37020515A>T | CA359486555 | NIPBL | c.5067A>T (p.Glu1689Asp) c.1-44063A>T (n.1-44063A>T) c.4323A>T (p.Glu1441Asp) c.4869A>T (p.Glu1623Asp) c.4686A>T (p.Glu1562Asp) c.4407A>T (p.Glu1469Asp) c.3450A>T (p.Glu1150Asp) c.3441A>T (p.Glu1147Asp) | |
5 | g.37020516A>C | CA359486558 | NIPBL | c.5068A>C (p.Lys1690Gln) c.1-44062A>C (n.1-44062A>C) c.4324A>C (p.Lys1442Gln) c.4870A>C (p.Lys1624Gln) c.4687A>C (p.Lys1563Gln) c.4408A>C (p.Lys1470Gln) c.3451A>C (p.Lys1151Gln) c.3442A>C (p.Lys1148Gln) | |
5 | g.37020516A>G | CA359486561 | NIPBL | c.5068A>G (p.Lys1690Glu) c.1-44062A>G (n.1-44062A>G) c.4324A>G (p.Lys1442Glu) c.4870A>G (p.Lys1624Glu) c.4687A>G (p.Lys1563Glu) c.4408A>G (p.Lys1470Glu) c.3451A>G (p.Lys1151Glu) c.3442A>G (p.Lys1148Glu) | |
5 | g.37020516A>T | CA359486563 | NIPBL | c.5068A>T (p.Lys1690Ter) c.1-44062A>T (n.1-44062A>T) c.4324A>T (p.Lys1442Ter) c.4870A>T (p.Lys1624Ter) c.4687A>T (p.Lys1563Ter) c.4408A>T (p.Lys1470Ter) c.3451A>T (p.Lys1151Ter) c.3442A>T (p.Lys1148Ter) | |
5 | g.37020517A>C | CA359486567 | NIPBL | c.5069A>C (p.Lys1690Thr) c.1-44061A>C (n.1-44061A>C) c.4325A>C (p.Lys1442Thr) c.4871A>C (p.Lys1624Thr) c.4688A>C (p.Lys1563Thr) c.4409A>C (p.Lys1470Thr) c.3452A>C (p.Lys1151Thr) c.3443A>C (p.Lys1148Thr) | |
5 | g.37020517A>G | CA359486568 | NIPBL | c.5069A>G (p.Lys1690Arg) c.1-44061A>G (n.1-44061A>G) c.4325A>G (p.Lys1442Arg) c.4871A>G (p.Lys1624Arg) c.4688A>G (p.Lys1563Arg) c.4409A>G (p.Lys1470Arg) c.3452A>G (p.Lys1151Arg) c.3443A>G (p.Lys1148Arg) | COSMIC |
5 | g.37020517A>T | CA359486571 | NIPBL | c.5069A>T (p.Lys1690Ile) c.1-44061A>T (n.1-44061A>T) c.4325A>T (p.Lys1442Ile) c.4871A>T (p.Lys1624Ile) c.4688A>T (p.Lys1563Ile) c.4409A>T (p.Lys1470Ile) c.3452A>T (p.Lys1151Ile) c.3443A>T (p.Lys1148Ile) | |
5 | g.37020518A>C | CA359486574 | NIPBL | c.5070A>C (p.Lys1690Asn) c.1-44060A>C (n.1-44060A>C) c.4326A>C (p.Lys1442Asn) c.4872A>C (p.Lys1624Asn) c.4689A>C (p.Lys1563Asn) c.4410A>C (p.Lys1470Asn) c.3453A>C (p.Lys1151Asn) c.3444A>C (p.Lys1148Asn) | |
5 | g.37020518A>G | CA443904946 | NIPBL | c.5070A>G (p.Lys1690=) c.1-44060A>G (n.1-44060A>G) c.4326A>G (p.Lys1442=) c.4872A>G (p.Lys1624=) c.4689A>G (p.Lys1563=) c.4410A>G (p.Lys1470=) c.3453A>G (p.Lys1151=) c.3444A>G (p.Lys1148=) | |
5 | g.37020518A>T | CA359486576 | NIPBL | c.5070A>T (p.Lys1690Asn) c.1-44060A>T (n.1-44060A>T) c.4326A>T (p.Lys1442Asn) c.4872A>T (p.Lys1624Asn) c.4689A>T (p.Lys1563Asn) c.4410A>T (p.Lys1470Asn) c.3453A>T (p.Lys1151Asn) c.3444A>T (p.Lys1148Asn) | |
5 | g.37020519G>A | CA359486578 | NIPBL | c.5071G>A (p.Ala1691Thr) c.1-44059G>A (n.1-44059G>A) c.4327G>A (p.Ala1443Thr) c.4873G>A (p.Ala1625Thr) c.4690G>A (p.Ala1564Thr) c.4411G>A (p.Ala1471Thr) c.3454G>A (p.Ala1152Thr) c.3445G>A (p.Ala1149Thr) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37020519G>C | CA359486582 | NIPBL | c.5071G>C (p.Ala1691Pro) c.1-44059G>C (n.1-44059G>C) c.4327G>C (p.Ala1443Pro) c.4873G>C (p.Ala1625Pro) c.4690G>C (p.Ala1564Pro) c.4411G>C (p.Ala1471Pro) c.3454G>C (p.Ala1152Pro) c.3445G>C (p.Ala1149Pro) | |
5 | g.37020519G= | CA1539619216 | NIPBL | c.5071G= (p.Ala1691=) c.1-44059G= (n.1-44059G=) c.4327G= (p.Ala1443=) c.4873G= (p.Ala1625=) c.4690G= (p.Ala1564=) c.4411G= (p.Ala1471=) c.3454G= (p.Ala1152=) c.3445G= (p.Ala1149=) | |
5 | g.37020519G>T | CA359486580 | NIPBL | c.5071G>T (p.Ala1691Ser) c.1-44059G>T (n.1-44059G>T) c.4327G>T (p.Ala1443Ser) c.4873G>T (p.Ala1625Ser) c.4690G>T (p.Ala1564Ser) c.4411G>T (p.Ala1471Ser) c.3454G>T (p.Ala1152Ser) c.3445G>T (p.Ala1149Ser) | COSMIC COSMIC |
5 | g.37020520C>A | CA359486590 | NIPBL | c.5072C>A (p.Ala1691Glu) c.1-44058C>A (n.1-44058C>A) c.4328C>A (p.Ala1443Glu) c.4874C>A (p.Ala1625Glu) c.4691C>A (p.Ala1564Glu) c.4412C>A (p.Ala1471Glu) c.3455C>A (p.Ala1152Glu) c.3446C>A (p.Ala1149Glu) | |
5 | g.37020520C>G | CA359486594 | NIPBL | c.5072C>G (p.Ala1691Gly) c.1-44058C>G (n.1-44058C>G) c.4328C>G (p.Ala1443Gly) c.4874C>G (p.Ala1625Gly) c.4691C>G (p.Ala1564Gly) c.4412C>G (p.Ala1471Gly) c.3455C>G (p.Ala1152Gly) c.3446C>G (p.Ala1149Gly) | |
5 | g.37020520C>T | CA359486591 | NIPBL | c.5072C>T (p.Ala1691Val) c.1-44058C>T (n.1-44058C>T) c.4328C>T (p.Ala1443Val) c.4874C>T (p.Ala1625Val) c.4691C>T (p.Ala1564Val) c.4412C>T (p.Ala1471Val) c.3455C>T (p.Ala1152Val) c.3446C>T (p.Ala1149Val) | |
5 | g.37020521A>C | CA443904949 | NIPBL | c.5073A>C (p.Ala1691=) c.1-44057A>C (n.1-44057A>C) c.4329A>C (p.Ala1443=) c.4875A>C (p.Ala1625=) c.4692A>C (p.Ala1564=) c.4413A>C (p.Ala1471=) c.3456A>C (p.Ala1152=) c.3447A>C (p.Ala1149=) | |
5 | g.37020521A>G | CA443904950 | NIPBL | c.5073A>G (p.Ala1691=) c.1-44057A>G (n.1-44057A>G) c.4329A>G (p.Ala1443=) c.4875A>G (p.Ala1625=) c.4692A>G (p.Ala1564=) c.4413A>G (p.Ala1471=) c.3456A>G (p.Ala1152=) c.3447A>G (p.Ala1149=) | |
5 | g.37020521A>T | CA443904951 | NIPBL | c.5073A>T (p.Ala1691=) c.1-44057A>T (n.1-44057A>T) c.4329A>T (p.Ala1443=) c.4875A>T (p.Ala1625=) c.4692A>T (p.Ala1564=) c.4413A>T (p.Ala1471=) c.3456A>T (p.Ala1152=) c.3447A>T (p.Ala1149=) | |
5 | g.37020522A= | CA1539619219 | NIPBL | c.5074A= (p.Met1692=) c.1-44056A= (n.1-44056A=) c.4330A= (p.Met1444=) c.4876A= (p.Met1626=) c.4693A= (p.Met1565=) c.4414A= (p.Met1472=) c.3457A= (p.Met1153=) c.3448A= (p.Met1150=) | |
5 | g.37020522A>C | CA359486597 | NIPBL | c.5074A>C (p.Met1692Leu) c.1-44056A>C (n.1-44056A>C) c.4330A>C (p.Met1444Leu) c.4876A>C (p.Met1626Leu) c.4693A>C (p.Met1565Leu) c.4414A>C (p.Met1472Leu) c.3457A>C (p.Met1153Leu) c.3448A>C (p.Met1150Leu) | |
5 | g.37020522A>G | CA359486601 | NIPBL | c.5074A>G (p.Met1692Val) c.1-44056A>G (n.1-44056A>G) c.4330A>G (p.Met1444Val) c.4876A>G (p.Met1626Val) c.4693A>G (p.Met1565Val) c.4414A>G (p.Met1472Val) c.3457A>G (p.Met1153Val) c.3448A>G (p.Met1150Val) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.37020522A>T | CA359486599 | NIPBL | c.5074A>T (p.Met1692Leu) c.1-44056A>T (n.1-44056A>T) c.4330A>T (p.Met1444Leu) c.4876A>T (p.Met1626Leu) c.4693A>T (p.Met1565Leu) c.4414A>T (p.Met1472Leu) c.3457A>T (p.Met1153Leu) c.3448A>T (p.Met1150Leu) | |
5 | g.37020523T>A | CA359486603 | NIPBL | c.5075T>A (p.Met1692Lys) c.1-44055T>A (n.1-44055T>A) c.4331T>A (p.Met1444Lys) c.4877T>A (p.Met1626Lys) c.4694T>A (p.Met1565Lys) c.4415T>A (p.Met1472Lys) c.3458T>A (p.Met1153Lys) c.3449T>A (p.Met1150Lys) | |
5 | g.37020523T>C | CA359486609 | NIPBL | c.5075T>C (p.Met1692Thr) c.1-44055T>C (n.1-44055T>C) c.4331T>C (p.Met1444Thr) c.4877T>C (p.Met1626Thr) c.4694T>C (p.Met1565Thr) c.4415T>C (p.Met1472Thr) c.3458T>C (p.Met1153Thr) c.3449T>C (p.Met1150Thr) | |
5 | g.37020523T>G | CA359486606 | NIPBL | c.5075T>G (p.Met1692Arg) c.1-44055T>G (n.1-44055T>G) c.4331T>G (p.Met1444Arg) c.4877T>G (p.Met1626Arg) c.4694T>G (p.Met1565Arg) c.4415T>G (p.Met1472Arg) c.3458T>G (p.Met1153Arg) c.3449T>G (p.Met1150Arg) | |
5 | g.37020524G>A | CA359486612 | NIPBL | c.5076G>A (p.Met1692Ile) c.1-44054G>A (n.1-44054G>A) c.4332G>A (p.Met1444Ile) c.4878G>A (p.Met1626Ile) c.4695G>A (p.Met1565Ile) c.4416G>A (p.Met1472Ile) c.3459G>A (p.Met1153Ile) c.3450G>A (p.Met1150Ile) | COSMIC COSMIC |
5 | g.37020524G>C | CA359486615 | NIPBL | c.5076G>C (p.Met1692Ile) c.1-44054G>C (n.1-44054G>C) c.4332G>C (p.Met1444Ile) c.4878G>C (p.Met1626Ile) c.4695G>C (p.Met1565Ile) c.4416G>C (p.Met1472Ile) c.3459G>C (p.Met1153Ile) c.3450G>C (p.Met1150Ile) | |
5 | g.37020524G= | CA1539619221 | NIPBL | c.5076G= (p.Met1692=) c.1-44054G= (n.1-44054G=) c.4332G= (p.Met1444=) c.4878G= (p.Met1626=) c.4695G= (p.Met1565=) c.4416G= (p.Met1472=) c.3459G= (p.Met1153=) c.3450G= (p.Met1150=) | |
5 | g.37020524G>T | CA359486613 | NIPBL | c.5076G>T (p.Met1692Ile) c.1-44054G>T (n.1-44054G>T) c.4332G>T (p.Met1444Ile) c.4878G>T (p.Met1626Ile) c.4695G>T (p.Met1565Ile) c.4416G>T (p.Met1472Ile) c.3459G>T (p.Met1153Ile) c.3450G>T (p.Met1150Ile) | dbSNP |
5 | g.37020525A>C | CA359486619 | NIPBL | c.5077A>C (p.Lys1693Gln) c.1-44053A>C (n.1-44053A>C) c.4333A>C (p.Lys1445Gln) c.4879A>C (p.Lys1627Gln) c.4696A>C (p.Lys1566Gln) c.4417A>C (p.Lys1473Gln) c.3460A>C (p.Lys1154Gln) c.3451A>C (p.Lys1151Gln) | |
5 | g.37020525A>G | CA359486622 | NIPBL | c.5077A>G (p.Lys1693Glu) c.1-44053A>G (n.1-44053A>G) c.4333A>G (p.Lys1445Glu) c.4879A>G (p.Lys1627Glu) c.4696A>G (p.Lys1566Glu) c.4417A>G (p.Lys1473Glu) c.3460A>G (p.Lys1154Glu) c.3451A>G (p.Lys1151Glu) | |
5 | g.37020525A>T | CA359486623 | NIPBL | c.5077A>T (p.Lys1693Ter) c.1-44053A>T (n.1-44053A>T) c.4333A>T (p.Lys1445Ter) c.4879A>T (p.Lys1627Ter) c.4696A>T (p.Lys1566Ter) c.4417A>T (p.Lys1473Ter) c.3460A>T (p.Lys1154Ter) c.3451A>T (p.Lys1151Ter) | |
5 | g.37020526A>C | CA359486626 | NIPBL | c.5078A>C (p.Lys1693Thr) c.1-44052A>C (n.1-44052A>C) c.4334A>C (p.Lys1445Thr) c.4880A>C (p.Lys1627Thr) c.4697A>C (p.Lys1566Thr) c.4418A>C (p.Lys1473Thr) c.3461A>C (p.Lys1154Thr) c.3452A>C (p.Lys1151Thr) | |
5 | g.37020526A>G | CA359486629 | NIPBL | c.5078A>G (p.Lys1693Arg) c.1-44052A>G (n.1-44052A>G) c.4334A>G (p.Lys1445Arg) c.4880A>G (p.Lys1627Arg) c.4697A>G (p.Lys1566Arg) c.4418A>G (p.Lys1473Arg) c.3461A>G (p.Lys1154Arg) c.3452A>G (p.Lys1151Arg) | gnomAD v4 |
5 | g.37020526A>T | CA359486631 | NIPBL | c.5078A>T (p.Lys1693Ile) c.1-44052A>T (n.1-44052A>T) c.4334A>T (p.Lys1445Ile) c.4880A>T (p.Lys1627Ile) c.4697A>T (p.Lys1566Ile) c.4418A>T (p.Lys1473Ile) c.3461A>T (p.Lys1154Ile) c.3452A>T (p.Lys1151Ile) | |
5 | g.37020527A= | CA1539619223 | NIPBL | c.5079A= (p.Lys1693=) c.1-44051A= (n.1-44051A=) c.4335A= (p.Lys1445=) c.4881A= (p.Lys1627=) c.4698A= (p.Lys1566=) c.4419A= (p.Lys1473=) c.3462A= (p.Lys1154=) c.3453A= (p.Lys1151=) | |
5 | g.37020527A>C | CA359486635 | NIPBL | c.5079A>C (p.Lys1693Asn) c.1-44051A>C (n.1-44051A>C) c.4335A>C (p.Lys1445Asn) c.4881A>C (p.Lys1627Asn) c.4698A>C (p.Lys1566Asn) c.4419A>C (p.Lys1473Asn) c.3462A>C (p.Lys1154Asn) c.3453A>C (p.Lys1151Asn) | dbSNP |
5 | g.37020527A>G | CA443904957 | NIPBL | c.5079A>G (p.Lys1693=) c.1-44051A>G (n.1-44051A>G) c.4335A>G (p.Lys1445=) c.4881A>G (p.Lys1627=) c.4698A>G (p.Lys1566=) c.4419A>G (p.Lys1473=) c.3462A>G (p.Lys1154=) c.3453A>G (p.Lys1151=) | |
5 | g.37020527A>T | CA359486638 | NIPBL | c.5079A>T (p.Lys1693Asn) c.1-44051A>T (n.1-44051A>T) c.4335A>T (p.Lys1445Asn) c.4881A>T (p.Lys1627Asn) c.4698A>T (p.Lys1566Asn) c.4419A>T (p.Lys1473Asn) c.3462A>T (p.Lys1154Asn) c.3453A>T (p.Lys1151Asn) | |
5 | g.37020528T>A | CA359486641 | NIPBL | c.5080T>A (p.Ser1694Thr) c.1-44050T>A (n.1-44050T>A) c.4336T>A (p.Ser1446Thr) c.4882T>A (p.Ser1628Thr) c.4699T>A (p.Ser1567Thr) c.4420T>A (p.Ser1474Thr) c.3463T>A (p.Ser1155Thr) c.3454T>A (p.Ser1152Thr) | |
5 | g.37020528T>C | CA359486643 | NIPBL | c.5080T>C (p.Ser1694Pro) c.1-44050T>C (n.1-44050T>C) c.4336T>C (p.Ser1446Pro) c.4882T>C (p.Ser1628Pro) c.4699T>C (p.Ser1567Pro) c.4420T>C (p.Ser1474Pro) c.3463T>C (p.Ser1155Pro) c.3454T>C (p.Ser1152Pro) | |
5 | g.37020528T>G | CA359486646 | NIPBL | c.5080T>G (p.Ser1694Ala) c.1-44050T>G (n.1-44050T>G) c.4336T>G (p.Ser1446Ala) c.4882T>G (p.Ser1628Ala) c.4699T>G (p.Ser1567Ala) c.4420T>G (p.Ser1474Ala) c.3463T>G (p.Ser1155Ala) c.3454T>G (p.Ser1152Ala) | gnomAD v4 |
5 | g.37020529C>A | CA359486654 | NIPBL | c.5081C>A (p.Ser1694Ter) c.1-44049C>A (n.1-44049C>A) c.4337C>A (p.Ser1446Ter) c.4883C>A (p.Ser1628Ter) c.4700C>A (p.Ser1567Ter) c.4421C>A (p.Ser1474Ter) c.3464C>A (p.Ser1155Ter) c.3455C>A (p.Ser1152Ter) | |
5 | g.37020529C>G | CA359486652 | NIPBL | c.5081C>G (p.Ser1694Ter) c.1-44049C>G (n.1-44049C>G) c.4337C>G (p.Ser1446Ter) c.4883C>G (p.Ser1628Ter) c.4700C>G (p.Ser1567Ter) c.4421C>G (p.Ser1474Ter) c.3464C>G (p.Ser1155Ter) c.3455C>G (p.Ser1152Ter) | |
5 | g.37020529C>T | CA359486650 | NIPBL | c.5081C>T (p.Ser1694Leu) c.1-44049C>T (n.1-44049C>T) c.4337C>T (p.Ser1446Leu) c.4883C>T (p.Ser1628Leu) c.4700C>T (p.Ser1567Leu) c.4421C>T (p.Ser1474Leu) c.3464C>T (p.Ser1155Leu) c.3455C>T (p.Ser1152Leu) | |
5 | g.37020530A>C | CA443904960 | NIPBL | c.5082A>C (p.Ser1694=) c.1-44048A>C (n.1-44048A>C) c.4338A>C (p.Ser1446=) c.4884A>C (p.Ser1628=) c.4701A>C (p.Ser1567=) c.4422A>C (p.Ser1474=) c.3465A>C (p.Ser1155=) c.3456A>C (p.Ser1152=) | |
5 | g.37020530A>G | CA443904961 | NIPBL | c.5082A>G (p.Ser1694=) c.1-44048A>G (n.1-44048A>G) c.4338A>G (p.Ser1446=) c.4884A>G (p.Ser1628=) c.4701A>G (p.Ser1567=) c.4422A>G (p.Ser1474=) c.3465A>G (p.Ser1155=) c.3456A>G (p.Ser1152=) | |
5 | g.37020530A>T | CA443904963 | NIPBL | c.5082A>T (p.Ser1694=) c.1-44048A>T (n.1-44048A>T) c.4338A>T (p.Ser1446=) c.4884A>T (p.Ser1628=) c.4701A>T (p.Ser1567=) c.4422A>T (p.Ser1474=) c.3465A>T (p.Ser1155=) c.3456A>T (p.Ser1152=) | |
5 | g.37020531C>A | CA359486657 | NIPBL | c.5083C>A (p.Gln1695Lys) c.1-44047C>A (n.1-44047C>A) c.4339C>A (p.Gln1447Lys) c.4885C>A (p.Gln1629Lys) c.4702C>A (p.Gln1568Lys) c.4423C>A (p.Gln1475Lys) c.3466C>A (p.Gln1156Lys) c.3457C>A (p.Gln1153Lys) | gnomAD v4 |
5 | g.37020531C>G | CA359486659 | NIPBL | c.5083C>G (p.Gln1695Glu) c.1-44047C>G (n.1-44047C>G) c.4339C>G (p.Gln1447Glu) c.4885C>G (p.Gln1629Glu) c.4702C>G (p.Gln1568Glu) c.4423C>G (p.Gln1475Glu) c.3466C>G (p.Gln1156Glu) c.3457C>G (p.Gln1153Glu) | |
5 | g.37020531C>T | CA359486661 | NIPBL | c.5083C>T (p.Gln1695Ter) c.1-44047C>T (n.1-44047C>T) c.4339C>T (p.Gln1447Ter) c.4885C>T (p.Gln1629Ter) c.4702C>T (p.Gln1568Ter) c.4423C>T (p.Gln1475Ter) c.3466C>T (p.Gln1156Ter) c.3457C>T (p.Gln1153Ter) | |
5 | g.37020532A>C | CA359486665 | NIPBL | c.5084A>C (p.Gln1695Pro) c.1-44046A>C (n.1-44046A>C) c.4340A>C (p.Gln1447Pro) c.4886A>C (p.Gln1629Pro) c.4703A>C (p.Gln1568Pro) c.4424A>C (p.Gln1475Pro) c.3467A>C (p.Gln1156Pro) c.3458A>C (p.Gln1153Pro) | |
5 | g.37020532A>G | CA359486667 | NIPBL | c.5084A>G (p.Gln1695Arg) c.1-44046A>G (n.1-44046A>G) c.4340A>G (p.Gln1447Arg) c.4886A>G (p.Gln1629Arg) c.4703A>G (p.Gln1568Arg) c.4424A>G (p.Gln1475Arg) c.3467A>G (p.Gln1156Arg) c.3458A>G (p.Gln1153Arg) | |
5 | g.37020532A>T | CA359486670 | NIPBL | c.5084A>T (p.Gln1695Leu) c.1-44046A>T (n.1-44046A>T) c.4340A>T (p.Gln1447Leu) c.4886A>T (p.Gln1629Leu) c.4703A>T (p.Gln1568Leu) c.4424A>T (p.Gln1475Leu) c.3467A>T (p.Gln1156Leu) c.3458A>T (p.Gln1153Leu) | |
5 | g.37020535_37020536del | CA2580073212 | NIPBL | c.5087_5088del (p.Lys1696ArgfsTer2) c.1-44043_1-44042del (n.1-44043_1-44042del) c.4343_4344del (p.Lys1448ArgfsTer2) c.4889_4890del (p.Lys1630ArgfsTer2) c.4706_4707del (p.Lys1569ArgfsTer2) c.4427_4428del (p.Lys1476ArgfsTer2) c.3470_3471del (p.Lys1157ArgfsTer2) c.3461_3462del (p.Lys1154ArgfsTer2) | ClinVar |
5 | g.37020533A= | CA1539619225 | NIPBL | c.5085A= (p.Gln1695=) c.1-44045A= (n.1-44045A=) c.4341A= (p.Gln1447=) c.4887A= (p.Gln1629=) c.4704A= (p.Gln1568=) c.4425A= (p.Gln1475=) c.3468A= (p.Gln1156=) c.3459A= (p.Gln1153=) | |
5 | g.37020533A>C | CA359486671 | NIPBL | c.5085A>C (p.Gln1695His) c.1-44045A>C (n.1-44045A>C) c.4341A>C (p.Gln1447His) c.4887A>C (p.Gln1629His) c.4704A>C (p.Gln1568His) c.4425A>C (p.Gln1475His) c.3468A>C (p.Gln1156His) c.3459A>C (p.Gln1153His) | ClinVar |
5 | g.37020533A>G | CA117027973 | NIPBL | c.5085A>G (p.Gln1695=) c.1-44045A>G (n.1-44045A>G) c.4341A>G (p.Gln1447=) c.4887A>G (p.Gln1629=) c.4704A>G (p.Gln1568=) c.4425A>G (p.Gln1475=) c.3468A>G (p.Gln1156=) c.3459A>G (p.Gln1153=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37020533A>T | CA359486672 | NIPBL | c.5085A>T (p.Gln1695His) c.1-44045A>T (n.1-44045A>T) c.4341A>T (p.Gln1447His) c.4887A>T (p.Gln1629His) c.4704A>T (p.Gln1568His) c.4425A>T (p.Gln1475His) c.3468A>T (p.Gln1156His) c.3459A>T (p.Gln1153His) | |
5 | g.37020534A>C | CA359486673 | NIPBL | c.5086A>C (p.Lys1696Gln) c.1-44044A>C (n.1-44044A>C) c.4342A>C (p.Lys1448Gln) c.4888A>C (p.Lys1630Gln) c.4705A>C (p.Lys1569Gln) c.4426A>C (p.Lys1476Gln) c.3469A>C (p.Lys1157Gln) c.3460A>C (p.Lys1154Gln) | |
5 | g.37020534A>G | CA359486675 | NIPBL | c.5086A>G (p.Lys1696Glu) c.1-44044A>G (n.1-44044A>G) c.4342A>G (p.Lys1448Glu) c.4888A>G (p.Lys1630Glu) c.4705A>G (p.Lys1569Glu) c.4426A>G (p.Lys1476Glu) c.3469A>G (p.Lys1157Glu) c.3460A>G (p.Lys1154Glu) | |
5 | g.37020534A>T | CA359486677 | NIPBL | c.5086A>T (p.Lys1696Ter) c.1-44044A>T (n.1-44044A>T) c.4342A>T (p.Lys1448Ter) c.4888A>T (p.Lys1630Ter) c.4705A>T (p.Lys1569Ter) c.4426A>T (p.Lys1476Ter) c.3469A>T (p.Lys1157Ter) c.3460A>T (p.Lys1154Ter) | |
5 | g.37020535A= | CA1539619227 | NIPBL | c.5087A= (p.Lys1696=) c.1-44043A= (n.1-44043A=) c.4343A= (p.Lys1448=) c.4889A= (p.Lys1630=) c.4706A= (p.Lys1569=) c.4427A= (p.Lys1476=) c.3470A= (p.Lys1157=) c.3461A= (p.Lys1154=) | |
5 | g.37020535A>C | CA359486684 | NIPBL | c.5087A>C (p.Lys1696Thr) c.1-44043A>C (n.1-44043A>C) c.4343A>C (p.Lys1448Thr) c.4889A>C (p.Lys1630Thr) c.4706A>C (p.Lys1569Thr) c.4427A>C (p.Lys1476Thr) c.3470A>C (p.Lys1157Thr) c.3461A>C (p.Lys1154Thr) | |
5 | g.37020535A>G | CA3236698 | NIPBL | c.5087A>G (p.Lys1696Arg) c.1-44043A>G (n.1-44043A>G) c.4343A>G (p.Lys1448Arg) c.4889A>G (p.Lys1630Arg) c.4706A>G (p.Lys1569Arg) c.4427A>G (p.Lys1476Arg) c.3470A>G (p.Lys1157Arg) c.3461A>G (p.Lys1154Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.37020535A>T | CA359486679 | NIPBL | c.5087A>T (p.Lys1696Ile) c.1-44043A>T (n.1-44043A>T) c.4343A>T (p.Lys1448Ile) c.4889A>T (p.Lys1630Ile) c.4706A>T (p.Lys1569Ile) c.4427A>T (p.Lys1476Ile) c.3470A>T (p.Lys1157Ile) c.3461A>T (p.Lys1154Ile) | |
5 | g.37020536A>C | CA359486689 | NIPBL | c.5088A>C (p.Lys1696Asn) c.1-44042A>C (n.1-44042A>C) c.4344A>C (p.Lys1448Asn) c.4890A>C (p.Lys1630Asn) c.4707A>C (p.Lys1569Asn) c.4428A>C (p.Lys1476Asn) c.3471A>C (p.Lys1157Asn) c.3462A>C (p.Lys1154Asn) | |
5 | g.37020536A>G | CA443904967 | NIPBL | c.5088A>G (p.Lys1696=) c.1-44042A>G (n.1-44042A>G) c.4344A>G (p.Lys1448=) c.4890A>G (p.Lys1630=) c.4707A>G (p.Lys1569=) c.4428A>G (p.Lys1476=) c.3471A>G (p.Lys1157=) c.3462A>G (p.Lys1154=) | |
5 | g.37020536A>T | CA359486687 | NIPBL | c.5088A>T (p.Lys1696Asn) c.1-44042A>T (n.1-44042A>T) c.4344A>T (p.Lys1448Asn) c.4890A>T (p.Lys1630Asn) c.4707A>T (p.Lys1569Asn) c.4428A>T (p.Lys1476Asn) c.3471A>T (p.Lys1157Asn) c.3462A>T (p.Lys1154Asn) | |
5 | g.37020537G>A | CA359486694 | NIPBL | c.5089G>A (p.Asp1697Asn) c.1-44041G>A (n.1-44041G>A) c.4345G>A (p.Asp1449Asn) c.4891G>A (p.Asp1631Asn) c.4708G>A (p.Asp1570Asn) c.4429G>A (p.Asp1477Asn) c.3472G>A (p.Asp1158Asn) c.3463G>A (p.Asp1155Asn) | |
5 | g.37020537G>C | CA359486697 | NIPBL | c.5089G>C (p.Asp1697His) c.1-44041G>C (n.1-44041G>C) c.4345G>C (p.Asp1449His) c.4891G>C (p.Asp1631His) c.4708G>C (p.Asp1570His) c.4429G>C (p.Asp1477His) c.3472G>C (p.Asp1158His) c.3463G>C (p.Asp1155His) | dbSNP gnomAD v4 |
5 | g.37020537G= | CA1539619230 | NIPBL | c.5089G= (p.Asp1697=) c.1-44041G= (n.1-44041G=) c.4345G= (p.Asp1449=) c.4891G= (p.Asp1631=) c.4708G= (p.Asp1570=) c.4429G= (p.Asp1477=) c.3472G= (p.Asp1158=) c.3463G= (p.Asp1155=) | |
5 | g.37020537G>T | CA359486699 | NIPBL | c.5089G>T (p.Asp1697Tyr) c.1-44041G>T (n.1-44041G>T) c.4345G>T (p.Asp1449Tyr) c.4891G>T (p.Asp1631Tyr) c.4708G>T (p.Asp1570Tyr) c.4429G>T (p.Asp1477Tyr) c.3472G>T (p.Asp1158Tyr) c.3463G>T (p.Asp1155Tyr) | |
5 | g.37020538A>C | CA359486702 | NIPBL | c.5090A>C (p.Asp1697Ala) c.1-44040A>C (n.1-44040A>C) c.4346A>C (p.Asp1449Ala) c.4892A>C (p.Asp1631Ala) c.4709A>C (p.Asp1570Ala) c.4430A>C (p.Asp1477Ala) c.3473A>C (p.Asp1158Ala) c.3464A>C (p.Asp1155Ala) | |
5 | g.37020538A>G | CA359486704 | NIPBL | c.5090A>G (p.Asp1697Gly) c.1-44040A>G (n.1-44040A>G) c.4346A>G (p.Asp1449Gly) c.4892A>G (p.Asp1631Gly) c.4709A>G (p.Asp1570Gly) c.4430A>G (p.Asp1477Gly) c.3473A>G (p.Asp1158Gly) c.3464A>G (p.Asp1155Gly) | gnomAD v4 |
5 | g.37020538A>T | CA359486707 | NIPBL | c.5090A>T (p.Asp1697Val) c.1-44040A>T (n.1-44040A>T) c.4346A>T (p.Asp1449Val) c.4892A>T (p.Asp1631Val) c.4709A>T (p.Asp1570Val) c.4430A>T (p.Asp1477Val) c.3473A>T (p.Asp1158Val) c.3464A>T (p.Asp1155Val) | gnomAD v4 |
5 | g.37020539T>A | CA359486709 | NIPBL | c.5091T>A (p.Asp1697Glu) c.1-44039T>A (n.1-44039T>A) c.4347T>A (p.Asp1449Glu) c.4893T>A (p.Asp1631Glu) c.4710T>A (p.Asp1570Glu) c.4431T>A (p.Asp1477Glu) c.3474T>A (p.Asp1158Glu) c.3465T>A (p.Asp1155Glu) | |
5 | g.37020539T>C | CA443904970 | NIPBL | c.5091T>C (p.Asp1697=) c.1-44039T>C (n.1-44039T>C) c.4347T>C (p.Asp1449=) c.4893T>C (p.Asp1631=) c.4710T>C (p.Asp1570=) c.4431T>C (p.Asp1477=) c.3474T>C (p.Asp1158=) c.3465T>C (p.Asp1155=) | |
5 | g.37020539T>G | CA359486712 | NIPBL | c.5091T>G (p.Asp1697Glu) c.1-44039T>G (n.1-44039T>G) c.4347T>G (p.Asp1449Glu) c.4893T>G (p.Asp1631Glu) c.4710T>G (p.Asp1570Glu) c.4431T>G (p.Asp1477Glu) c.3474T>G (p.Asp1158Glu) c.3465T>G (p.Asp1155Glu) | |
5 | g.37020539_37020542delinsTGAA | CA1539619232 | NIPBL | c.5091_5094delinsTGAA (p.Asp1697=) c.1-44039_1-44036delinsTGAA (n.1-44039_1-44036delinsTGAA) c.4347_4350delinsTGAA (p.Asp1449=) c.4893_4896delinsTGAA (p.Asp1631=) c.4710_4713delinsTGAA (p.Asp1570=) c.4431_4434delinsTGAA (p.Asp1477=) c.3474_3477delinsTGAA (p.Asp1158=) c.3465_3468delinsTGAA (p.Asp1155=) | |
5 | g.37020540G>A | CA359486715 | NIPBL | c.5092G>A (p.Glu1698Lys) c.1-44038G>A (n.1-44038G>A) c.4348G>A (p.Glu1450Lys) c.4894G>A (p.Glu1632Lys) c.4711G>A (p.Glu1571Lys) c.4432G>A (p.Glu1478Lys) c.3475G>A (p.Glu1159Lys) c.3466G>A (p.Glu1156Lys) | |
5 | g.37020540G>C | CA359486716 | NIPBL | c.5092G>C (p.Glu1698Gln) c.1-44038G>C (n.1-44038G>C) c.4348G>C (p.Glu1450Gln) c.4894G>C (p.Glu1632Gln) c.4711G>C (p.Glu1571Gln) c.4432G>C (p.Glu1478Gln) c.3475G>C (p.Glu1159Gln) c.3466G>C (p.Glu1156Gln) | |
5 | g.37020540G>T | CA359486719 | NIPBL | c.5092G>T (p.Glu1698Ter) c.1-44038G>T (n.1-44038G>T) c.4348G>T (p.Glu1450Ter) c.4894G>T (p.Glu1632Ter) c.4711G>T (p.Glu1571Ter) c.4432G>T (p.Glu1478Ter) c.3475G>T (p.Glu1159Ter) c.3466G>T (p.Glu1156Ter) | |
5 | g.37020543_37020545del | CA559015848 | NIPBL | c.5095_5097del (p.Glu1699del) c.1-44035_1-44033del (n.1-44035_1-44033del) c.4351_4353del (p.Glu1451del) c.4897_4899del (p.Glu1633del) c.4714_4716del (p.Glu1572del) c.4435_4437del (p.Glu1479del) c.3478_3480del (p.Glu1160del) c.3469_3471del (p.Glu1157del) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37020541A>C | CA359486728 | NIPBL | c.5093A>C (p.Glu1698Ala) c.1-44037A>C (n.1-44037A>C) c.4349A>C (p.Glu1450Ala) c.4895A>C (p.Glu1632Ala) c.4712A>C (p.Glu1571Ala) c.4433A>C (p.Glu1478Ala) c.3476A>C (p.Glu1159Ala) c.3467A>C (p.Glu1156Ala) | |
5 | g.37020541A>G | CA359486726 | NIPBL | c.5093A>G (p.Glu1698Gly) c.1-44037A>G (n.1-44037A>G) c.4349A>G (p.Glu1450Gly) c.4895A>G (p.Glu1632Gly) c.4712A>G (p.Glu1571Gly) c.4433A>G (p.Glu1478Gly) c.3476A>G (p.Glu1159Gly) c.3467A>G (p.Glu1156Gly) | |
5 | g.37020541A>T | CA359486723 | NIPBL | c.5093A>T (p.Glu1698Val) c.1-44037A>T (n.1-44037A>T) c.4349A>T (p.Glu1450Val) c.4895A>T (p.Glu1632Val) c.4712A>T (p.Glu1571Val) c.4433A>T (p.Glu1478Val) c.3476A>T (p.Glu1159Val) c.3467A>T (p.Glu1156Val) | |
5 | g.37020542A>C | CA359486730 | NIPBL | c.5094A>C (p.Glu1698Asp) c.1-44036A>C (n.1-44036A>C) c.4350A>C (p.Glu1450Asp) c.4896A>C (p.Glu1632Asp) c.4713A>C (p.Glu1571Asp) c.4434A>C (p.Glu1478Asp) c.3477A>C (p.Glu1159Asp) c.3468A>C (p.Glu1156Asp) | |
5 | g.37020542A>G | CA443904974 | NIPBL | c.5094A>G (p.Glu1698=) c.1-44036A>G (n.1-44036A>G) c.4350A>G (p.Glu1450=) c.4896A>G (p.Glu1632=) c.4713A>G (p.Glu1571=) c.4434A>G (p.Glu1478=) c.3477A>G (p.Glu1159=) c.3468A>G (p.Glu1156=) | |
5 | g.37020542A>T | CA359486731 | NIPBL | c.5094A>T (p.Glu1698Asp) c.1-44036A>T (n.1-44036A>T) c.4350A>T (p.Glu1450Asp) c.4896A>T (p.Glu1632Asp) c.4713A>T (p.Glu1571Asp) c.4434A>T (p.Glu1478Asp) c.3477A>T (p.Glu1159Asp) c.3468A>T (p.Glu1156Asp) | |
5 | g.37020543G>A | CA359486740 | NIPBL | c.5095G>A (p.Glu1699Lys) c.1-44035G>A (n.1-44035G>A) c.4351G>A (p.Glu1451Lys) c.4897G>A (p.Glu1633Lys) c.4714G>A (p.Glu1572Lys) c.4435G>A (p.Glu1479Lys) c.3478G>A (p.Glu1160Lys) c.3469G>A (p.Glu1157Lys) | |
5 | g.37020543G>C | CA359486741 | NIPBL | c.5095G>C (p.Glu1699Gln) c.1-44035G>C (n.1-44035G>C) c.4351G>C (p.Glu1451Gln) c.4897G>C (p.Glu1633Gln) c.4714G>C (p.Glu1572Gln) c.4435G>C (p.Glu1479Gln) c.3478G>C (p.Glu1160Gln) c.3469G>C (p.Glu1157Gln) | |
5 | g.37020543G>T | CA359486744 | NIPBL | c.5095G>T (p.Glu1699Ter) c.1-44035G>T (n.1-44035G>T) c.4351G>T (p.Glu1451Ter) c.4897G>T (p.Glu1633Ter) c.4714G>T (p.Glu1572Ter) c.4435G>T (p.Glu1479Ter) c.3478G>T (p.Glu1160Ter) c.3469G>T (p.Glu1157Ter) | |
5 | g.37020544A>C | CA359486747 | NIPBL | c.5096A>C (p.Glu1699Ala) c.1-44034A>C (n.1-44034A>C) c.4352A>C (p.Glu1451Ala) c.4898A>C (p.Glu1633Ala) c.4715A>C (p.Glu1572Ala) c.4436A>C (p.Glu1479Ala) c.3479A>C (p.Glu1160Ala) c.3470A>C (p.Glu1157Ala) | |
5 | g.37020544A>G | CA359486750 | NIPBL | c.5096A>G (p.Glu1699Gly) c.1-44034A>G (n.1-44034A>G) c.4352A>G (p.Glu1451Gly) c.4898A>G (p.Glu1633Gly) c.4715A>G (p.Glu1572Gly) c.4436A>G (p.Glu1479Gly) c.3479A>G (p.Glu1160Gly) c.3470A>G (p.Glu1157Gly) | |
5 | g.37020544A>T | CA359486752 | NIPBL | c.5096A>T (p.Glu1699Val) c.1-44034A>T (n.1-44034A>T) c.4352A>T (p.Glu1451Val) c.4898A>T (p.Glu1633Val) c.4715A>T (p.Glu1572Val) c.4436A>T (p.Glu1479Val) c.3479A>T (p.Glu1160Val) c.3470A>T (p.Glu1157Val) | |
5 | g.37020545A>C | CA359486756 | NIPBL | c.5097A>C (p.Glu1699Asp) c.1-44033A>C (n.1-44033A>C) c.4353A>C (p.Glu1451Asp) c.4899A>C (p.Glu1633Asp) c.4716A>C (p.Glu1572Asp) c.4437A>C (p.Glu1479Asp) c.3480A>C (p.Glu1160Asp) c.3471A>C (p.Glu1157Asp) | |
5 | g.37020545A>G | CA443904978 | NIPBL | c.5097A>G (p.Glu1699=) c.1-44033A>G (n.1-44033A>G) c.4353A>G (p.Glu1451=) c.4899A>G (p.Glu1633=) c.4716A>G (p.Glu1572=) c.4437A>G (p.Glu1479=) c.3480A>G (p.Glu1160=) c.3471A>G (p.Glu1157=) | gnomAD v4 |
5 | g.37020545A>T | CA359486759 | NIPBL | c.5097A>T (p.Glu1699Asp) c.1-44033A>T (n.1-44033A>T) c.4353A>T (p.Glu1451Asp) c.4899A>T (p.Glu1633Asp) c.4716A>T (p.Glu1572Asp) c.4437A>T (p.Glu1479Asp) c.3480A>T (p.Glu1160Asp) c.3471A>T (p.Glu1157Asp) | |
5 | g.37020546T>A | CA359486762 | NIPBL | c.5098T>A (p.Ser1700Thr) c.1-44032T>A (n.1-44032T>A) c.4354T>A (p.Ser1452Thr) c.4900T>A (p.Ser1634Thr) c.4717T>A (p.Ser1573Thr) c.4438T>A (p.Ser1480Thr) c.3481T>A (p.Ser1161Thr) c.3472T>A (p.Ser1158Thr) | |
5 | g.37020546T>C | CA359486763 | NIPBL | c.5098T>C (p.Ser1700Pro) c.1-44032T>C (n.1-44032T>C) c.4354T>C (p.Ser1452Pro) c.4900T>C (p.Ser1634Pro) c.4717T>C (p.Ser1573Pro) c.4438T>C (p.Ser1480Pro) c.3481T>C (p.Ser1161Pro) c.3472T>C (p.Ser1158Pro) | |
5 | g.37020546T>G | CA359486766 | NIPBL | c.5098T>G (p.Ser1700Ala) c.1-44032T>G (n.1-44032T>G) c.4354T>G (p.Ser1452Ala) c.4900T>G (p.Ser1634Ala) c.4717T>G (p.Ser1573Ala) c.4438T>G (p.Ser1480Ala) c.3481T>G (p.Ser1161Ala) c.3472T>G (p.Ser1158Ala) | |
5 | g.37020547C>A | CA359486774 | NIPBL | c.5099C>A (p.Ser1700Ter) c.1-44031C>A (n.1-44031C>A) c.4355C>A (p.Ser1452Ter) c.4901C>A (p.Ser1634Ter) c.4718C>A (p.Ser1573Ter) c.4439C>A (p.Ser1480Ter) c.3482C>A (p.Ser1161Ter) c.3473C>A (p.Ser1158Ter) | |
5 | g.37020547C= | CA1539619235 | NIPBL | c.5099C= (p.Ser1700=) c.1-44031C= (n.1-44031C=) c.4355C= (p.Ser1452=) c.4901C= (p.Ser1634=) c.4718C= (p.Ser1573=) c.4439C= (p.Ser1480=) c.3482C= (p.Ser1161=) c.3473C= (p.Ser1158=) | |
5 | g.37020547C>G | CA359486772 | NIPBL | c.5099C>G (p.Ser1700Ter) c.1-44031C>G (n.1-44031C>G) c.4355C>G (p.Ser1452Ter) c.4901C>G (p.Ser1634Ter) c.4718C>G (p.Ser1573Ter) c.4439C>G (p.Ser1480Ter) c.3482C>G (p.Ser1161Ter) c.3473C>G (p.Ser1158Ter) | |
5 | g.37020547C>T | CA117027979 | NIPBL | c.5099C>T (p.Ser1700Leu) c.1-44031C>T (n.1-44031C>T) c.4355C>T (p.Ser1452Leu) c.4901C>T (p.Ser1634Leu) c.4718C>T (p.Ser1573Leu) c.4439C>T (p.Ser1480Leu) c.3482C>T (p.Ser1161Leu) c.3473C>T (p.Ser1158Leu) | dbSNP COSMIC COSMIC |
5 | g.37020548A= | CA1539619239 | NIPBL | c.5100A= (p.Ser1700=) c.1-44030A= (n.1-44030A=) c.4356A= (p.Ser1452=) c.4902A= (p.Ser1634=) c.4719A= (p.Ser1573=) c.4440A= (p.Ser1480=) c.3483A= (p.Ser1161=) c.3474A= (p.Ser1158=) | |
5 | g.37020548A>C | CA443904984 | NIPBL | c.5100A>C (p.Ser1700=) c.1-44030A>C (n.1-44030A>C) c.4356A>C (p.Ser1452=) c.4902A>C (p.Ser1634=) c.4719A>C (p.Ser1573=) c.4440A>C (p.Ser1480=) c.3483A>C (p.Ser1161=) c.3474A>C (p.Ser1158=) | |
5 | g.37020548A>G | CA443904982 | NIPBL | c.5100A>G (p.Ser1700=) c.1-44030A>G (n.1-44030A>G) c.4356A>G (p.Ser1452=) c.4902A>G (p.Ser1634=) c.4719A>G (p.Ser1573=) c.4440A>G (p.Ser1480=) c.3483A>G (p.Ser1161=) c.3474A>G (p.Ser1158=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37020548A>T | CA443904983 | NIPBL | c.5100A>T (p.Ser1700=) c.1-44030A>T (n.1-44030A>T) c.4356A>T (p.Ser1452=) c.4902A>T (p.Ser1634=) c.4719A>T (p.Ser1573=) c.4440A>T (p.Ser1480=) c.3483A>T (p.Ser1161=) c.3474A>T (p.Ser1158=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.37020549T>A | CA359486776 | NIPBL | c.5101T>A (p.Ser1701Thr) c.1-44029T>A (n.1-44029T>A) c.4357T>A (p.Ser1453Thr) c.4903T>A (p.Ser1635Thr) c.4720T>A (p.Ser1574Thr) c.4441T>A (p.Ser1481Thr) c.3484T>A (p.Ser1162Thr) c.3475T>A (p.Ser1159Thr) | |
5 | g.37020549T>C | CA3236699 | NIPBL | c.5101T>C (p.Ser1701Pro) c.1-44029T>C (n.1-44029T>C) c.4357T>C (p.Ser1453Pro) c.4903T>C (p.Ser1635Pro) c.4720T>C (p.Ser1574Pro) c.4441T>C (p.Ser1481Pro) c.3484T>C (p.Ser1162Pro) c.3475T>C (p.Ser1159Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37020549T>G | CA359486778 | NIPBL | c.5101T>G (p.Ser1701Ala) c.1-44029T>G (n.1-44029T>G) c.4357T>G (p.Ser1453Ala) c.4903T>G (p.Ser1635Ala) c.4720T>G (p.Ser1574Ala) c.4441T>G (p.Ser1481Ala) c.3484T>G (p.Ser1162Ala) c.3475T>G (p.Ser1159Ala) | |
5 | g.37020549T= | CA1539619243 | NIPBL | c.5101T= (p.Ser1701=) c.1-44029T= (n.1-44029T=) c.4357T= (p.Ser1453=) c.4903T= (p.Ser1635=) c.4720T= (p.Ser1574=) c.4441T= (p.Ser1481=) c.3484T= (p.Ser1162=) c.3475T= (p.Ser1159=) | |
5 | g.37020550C>A | CA359486781 | NIPBL | c.5102C>A (p.Ser1701Tyr) c.1-44028C>A (n.1-44028C>A) c.4358C>A (p.Ser1453Tyr) c.4904C>A (p.Ser1635Tyr) c.4721C>A (p.Ser1574Tyr) c.4442C>A (p.Ser1481Tyr) c.3485C>A (p.Ser1162Tyr) c.3476C>A (p.Ser1159Tyr) | |
5 | g.37020550C>G | CA359486784 | NIPBL | c.5102C>G (p.Ser1701Cys) c.1-44028C>G (n.1-44028C>G) c.4358C>G (p.Ser1453Cys) c.4904C>G (p.Ser1635Cys) c.4721C>G (p.Ser1574Cys) c.4442C>G (p.Ser1481Cys) c.3485C>G (p.Ser1162Cys) c.3476C>G (p.Ser1159Cys) | gnomAD v4 |
5 | g.37020550C>T | CA359486785 | NIPBL | c.5102C>T (p.Ser1701Phe) c.1-44028C>T (n.1-44028C>T) c.4358C>T (p.Ser1453Phe) c.4904C>T (p.Ser1635Phe) c.4721C>T (p.Ser1574Phe) c.4442C>T (p.Ser1481Phe) c.3485C>T (p.Ser1162Phe) c.3476C>T (p.Ser1159Phe) | gnomAD v4 |
5 | g.37020551T>A | CA443904989 | NIPBL | c.5103T>A (p.Ser1701=) c.1-44027T>A (n.1-44027T>A) c.4359T>A (p.Ser1453=) c.4905T>A (p.Ser1635=) c.4722T>A (p.Ser1574=) c.4443T>A (p.Ser1481=) c.3486T>A (p.Ser1162=) c.3477T>A (p.Ser1159=) | |
5 | g.37020551T>C | CA443904987 | NIPBL | c.5103T>C (p.Ser1701=) c.1-44027T>C (n.1-44027T>C) c.4359T>C (p.Ser1453=) c.4905T>C (p.Ser1635=) c.4722T>C (p.Ser1574=) c.4443T>C (p.Ser1481=) c.3486T>C (p.Ser1162=) c.3477T>C (p.Ser1159=) | gnomAD v4 |
5 | g.37020551T>G | CA443904986 | NIPBL | c.5103T>G (p.Ser1701=) c.1-44027T>G (n.1-44027T>G) c.4359T>G (p.Ser1453=) c.4905T>G (p.Ser1635=) c.4722T>G (p.Ser1574=) c.4443T>G (p.Ser1481=) c.3486T>G (p.Ser1162=) c.3477T>G (p.Ser1159=) | |
5 | g.37020552G>A | CA359486791 | NIPBL | c.5104G>A (p.Glu1702Lys) c.1-44026G>A (n.1-44026G>A) c.4360G>A (p.Glu1454Lys) c.4906G>A (p.Glu1636Lys) c.4723G>A (p.Glu1575Lys) c.4444G>A (p.Glu1482Lys) c.3487G>A (p.Glu1163Lys) c.3478G>A (p.Glu1160Lys) | |
5 | g.37020552G>C | CA359486788 | NIPBL | c.5104G>C (p.Glu1702Gln) c.1-44026G>C (n.1-44026G>C) c.4360G>C (p.Glu1454Gln) c.4906G>C (p.Glu1636Gln) c.4723G>C (p.Glu1575Gln) c.4444G>C (p.Glu1482Gln) c.3487G>C (p.Glu1163Gln) c.3478G>C (p.Glu1160Gln) | |
5 | g.37020552G>T | CA359486789 | NIPBL | c.5104G>T (p.Glu1702Ter) c.1-44026G>T (n.1-44026G>T) c.4360G>T (p.Glu1454Ter) c.4906G>T (p.Glu1636Ter) c.4723G>T (p.Glu1575Ter) c.4444G>T (p.Glu1482Ter) c.3487G>T (p.Glu1163Ter) c.3478G>T (p.Glu1160Ter) | |
5 | g.37020553A>C | CA359486794 | NIPBL | c.5105A>C (p.Glu1702Ala) c.1-44025A>C (n.1-44025A>C) c.4361A>C (p.Glu1454Ala) c.4907A>C (p.Glu1636Ala) c.4724A>C (p.Glu1575Ala) c.4445A>C (p.Glu1482Ala) c.3488A>C (p.Glu1163Ala) c.3479A>C (p.Glu1160Ala) | |
5 | g.37020553A>G | CA359486797 | NIPBL | c.5105A>G (p.Glu1702Gly) c.1-44025A>G (n.1-44025A>G) c.4361A>G (p.Glu1454Gly) c.4907A>G (p.Glu1636Gly) c.4724A>G (p.Glu1575Gly) c.4445A>G (p.Glu1482Gly) c.3488A>G (p.Glu1163Gly) c.3479A>G (p.Glu1160Gly) | |
5 | g.37020553A>T | CA359486799 | NIPBL | c.5105A>T (p.Glu1702Val) c.1-44025A>T (n.1-44025A>T) c.4361A>T (p.Glu1454Val) c.4907A>T (p.Glu1636Val) c.4724A>T (p.Glu1575Val) c.4445A>T (p.Glu1482Val) c.3488A>T (p.Glu1163Val) c.3479A>T (p.Glu1160Val) | |
5 | g.37020554A>C | CA359486800 | NIPBL | c.5106A>C (p.Glu1702Asp) c.1-44024A>C (n.1-44024A>C) c.4362A>C (p.Glu1454Asp) c.4908A>C (p.Glu1636Asp) c.4725A>C (p.Glu1575Asp) c.4446A>C (p.Glu1482Asp) c.3489A>C (p.Glu1163Asp) c.3480A>C (p.Glu1160Asp) | |
5 | g.37020554A>G | CA443904994 | NIPBL | c.5106A>G (p.Glu1702=) c.1-44024A>G (n.1-44024A>G) c.4362A>G (p.Glu1454=) c.4908A>G (p.Glu1636=) c.4725A>G (p.Glu1575=) c.4446A>G (p.Glu1482=) c.3489A>G (p.Glu1163=) c.3480A>G (p.Glu1160=) | COSMIC COSMIC |
5 | g.37020554A>T | CA359486802 | NIPBL | c.5106A>T (p.Glu1702Asp) c.1-44024A>T (n.1-44024A>T) c.4362A>T (p.Glu1454Asp) c.4908A>T (p.Glu1636Asp) c.4725A>T (p.Glu1575Asp) c.4446A>T (p.Glu1482Asp) c.3489A>T (p.Glu1163Asp) c.3480A>T (p.Glu1160Asp) | |
5 | g.37020555G>A | CA359486806 | NIPBL | c.5107G>A (p.Gly1703Arg) c.1-44023G>A (n.1-44023G>A) c.4363G>A (p.Gly1455Arg) c.4909G>A (p.Gly1637Arg) c.4726G>A (p.Gly1576Arg) c.4447G>A (p.Gly1483Arg) c.3490G>A (p.Gly1164Arg) c.3481G>A (p.Gly1161Arg) | |
5 | g.37020555G>C | CA359486804 | NIPBL | c.5107G>C (p.Gly1703Arg) c.1-44023G>C (n.1-44023G>C) c.4363G>C (p.Gly1455Arg) c.4909G>C (p.Gly1637Arg) c.4726G>C (p.Gly1576Arg) c.4447G>C (p.Gly1483Arg) c.3490G>C (p.Gly1164Arg) c.3481G>C (p.Gly1161Arg) | |
5 | g.37020555G>T | CA359486805 | NIPBL | c.5107G>T (p.Gly1703Ter) c.1-44023G>T (n.1-44023G>T) c.4363G>T (p.Gly1455Ter) c.4909G>T (p.Gly1637Ter) c.4726G>T (p.Gly1576Ter) c.4447G>T (p.Gly1483Ter) c.3490G>T (p.Gly1164Ter) c.3481G>T (p.Gly1161Ter) | |
5 | g.37020556G>A | CA359486808 | NIPBL | c.5108G>A (p.Gly1703Glu) c.1-44022G>A (n.1-44022G>A) c.4364G>A (p.Gly1455Glu) c.4910G>A (p.Gly1637Glu) c.4727G>A (p.Gly1576Glu) c.4448G>A (p.Gly1483Glu) c.3491G>A (p.Gly1164Glu) c.3482G>A (p.Gly1161Glu) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37020556G>C | CA359486810 | NIPBL | c.5108G>C (p.Gly1703Ala) c.1-44022G>C (n.1-44022G>C) c.4364G>C (p.Gly1455Ala) c.4910G>C (p.Gly1637Ala) c.4727G>C (p.Gly1576Ala) c.4448G>C (p.Gly1483Ala) c.3491G>C (p.Gly1164Ala) c.3482G>C (p.Gly1161Ala) | |
5 | g.37020556G= | CA1539619246 | NIPBL | c.5108G= (p.Gly1703=) c.1-44022G= (n.1-44022G=) c.4364G= (p.Gly1455=) c.4910G= (p.Gly1637=) c.4727G= (p.Gly1576=) c.4448G= (p.Gly1483=) c.3491G= (p.Gly1164=) c.3482G= (p.Gly1161=) | |
5 | g.37020556G>T | CA359486812 | NIPBL | c.5108G>T (p.Gly1703Val) c.1-44022G>T (n.1-44022G>T) c.4364G>T (p.Gly1455Val) c.4910G>T (p.Gly1637Val) c.4727G>T (p.Gly1576Val) c.4448G>T (p.Gly1483Val) c.3491G>T (p.Gly1164Val) c.3482G>T (p.Gly1161Val) | |
5 | g.37020557A>C | CA443904997 | NIPBL | c.5109A>C (p.Gly1703=) c.1-44021A>C (n.1-44021A>C) c.4365A>C (p.Gly1455=) c.4911A>C (p.Gly1637=) c.4728A>C (p.Gly1576=) c.4449A>C (p.Gly1483=) c.3492A>C (p.Gly1164=) c.3483A>C (p.Gly1161=) | |
5 | g.37020557A>G | CA443904998 | NIPBL | c.5109A>G (p.Gly1703=) c.1-44021A>G (n.1-44021A>G) c.4365A>G (p.Gly1455=) c.4911A>G (p.Gly1637=) c.4728A>G (p.Gly1576=) c.4449A>G (p.Gly1483=) c.3492A>G (p.Gly1164=) c.3483A>G (p.Gly1161=) | |
5 | g.37020557A>T | CA443904999 | NIPBL | c.5109A>T (p.Gly1703=) c.1-44021A>T (n.1-44021A>T) c.4365A>T (p.Gly1455=) c.4911A>T (p.Gly1637=) c.4728A>T (p.Gly1576=) c.4449A>T (p.Gly1483=) c.3492A>T (p.Gly1164=) c.3483A>T (p.Gly1161=) | |
5 | g.37020558A>C | CA359486813 | NIPBL | c.5110A>C (p.Thr1704Pro) c.1-44020A>C (n.1-44020A>C) c.4366A>C (p.Thr1456Pro) c.4912A>C (p.Thr1638Pro) c.4729A>C (p.Thr1577Pro) c.4450A>C (p.Thr1484Pro) c.3493A>C (p.Thr1165Pro) c.3484A>C (p.Thr1162Pro) | |
5 | g.37020558A>G | CA359486814 | NIPBL | c.5110A>G (p.Thr1704Ala) c.1-44020A>G (n.1-44020A>G) c.4366A>G (p.Thr1456Ala) c.4912A>G (p.Thr1638Ala) c.4729A>G (p.Thr1577Ala) c.4450A>G (p.Thr1484Ala) c.3493A>G (p.Thr1165Ala) c.3484A>G (p.Thr1162Ala) | gnomAD v4 |
5 | g.37020558A>T | CA359486815 | NIPBL | c.5110A>T (p.Thr1704Ser) c.1-44020A>T (n.1-44020A>T) c.4366A>T (p.Thr1456Ser) c.4912A>T (p.Thr1638Ser) c.4729A>T (p.Thr1577Ser) c.4450A>T (p.Thr1484Ser) c.3493A>T (p.Thr1165Ser) c.3484A>T (p.Thr1162Ser) | |
5 | g.37020559C>A | CA359486818 | NIPBL | c.5111C>A (p.Thr1704Lys) c.1-44019C>A (n.1-44019C>A) c.4367C>A (p.Thr1456Lys) c.4913C>A (p.Thr1638Lys) c.4730C>A (p.Thr1577Lys) c.4451C>A (p.Thr1484Lys) c.3494C>A (p.Thr1165Lys) c.3485C>A (p.Thr1162Lys) | |
5 | g.37020559C>G | CA359486819 | NIPBL | c.5111C>G (p.Thr1704Arg) c.1-44019C>G (n.1-44019C>G) c.4367C>G (p.Thr1456Arg) c.4913C>G (p.Thr1638Arg) c.4730C>G (p.Thr1577Arg) c.4451C>G (p.Thr1484Arg) c.3494C>G (p.Thr1165Arg) c.3485C>G (p.Thr1162Arg) | |
5 | g.37020559C>T | CA359486821 | NIPBL | c.5111C>T (p.Thr1704Ile) c.1-44019C>T (n.1-44019C>T) c.4367C>T (p.Thr1456Ile) c.4913C>T (p.Thr1638Ile) c.4730C>T (p.Thr1577Ile) c.4451C>T (p.Thr1484Ile) c.3494C>T (p.Thr1165Ile) c.3485C>T (p.Thr1162Ile) | |
5 | g.37020560A>C | CA443905003 | NIPBL | c.5112A>C (p.Thr1704=) c.1-44018A>C (n.1-44018A>C) c.4368A>C (p.Thr1456=) c.4914A>C (p.Thr1638=) c.4731A>C (p.Thr1577=) c.4452A>C (p.Thr1484=) c.3495A>C (p.Thr1165=) c.3486A>C (p.Thr1162=) | |
5 | g.37020560A>G | CA443905004 | NIPBL | c.5112A>G (p.Thr1704=) c.1-44018A>G (n.1-44018A>G) c.4368A>G (p.Thr1456=) c.4914A>G (p.Thr1638=) c.4731A>G (p.Thr1577=) c.4452A>G (p.Thr1484=) c.3495A>G (p.Thr1165=) c.3486A>G (p.Thr1162=) | |
5 | g.37020560A>T | CA443905005 | NIPBL | c.5112A>T (p.Thr1704=) c.1-44018A>T (n.1-44018A>T) c.4368A>T (p.Thr1456=) c.4914A>T (p.Thr1638=) c.4731A>T (p.Thr1577=) c.4452A>T (p.Thr1484=) c.3495A>T (p.Thr1165=) c.3486A>T (p.Thr1162=) | |
5 | g.37020561C>A | CA359486823 | NIPBL | c.5113C>A (p.His1705Asn) c.1-44017C>A (n.1-44017C>A) c.4369C>A (p.His1457Asn) c.4915C>A (p.His1639Asn) c.4732C>A (p.His1578Asn) c.4453C>A (p.His1485Asn) c.3496C>A (p.His1166Asn) c.3487C>A (p.His1163Asn) | |
5 | g.37020561C= | CA1539619249 | NIPBL | c.5113C= (p.His1705=) c.1-44017C= (n.1-44017C=) c.4369C= (p.His1457=) c.4915C= (p.His1639=) c.4732C= (p.His1578=) c.4453C= (p.His1485=) c.3496C= (p.His1166=) c.3487C= (p.His1163=) | |
5 | g.37020561C>G | CA359486830 | NIPBL | c.5113C>G (p.His1705Asp) c.1-44017C>G (n.1-44017C>G) c.4369C>G (p.His1457Asp) c.4915C>G (p.His1639Asp) c.4732C>G (p.His1578Asp) c.4453C>G (p.His1485Asp) c.3496C>G (p.His1166Asp) c.3487C>G (p.His1163Asp) | |
5 | g.37020561C>T | CA3236700 | NIPBL | c.5113C>T (p.His1705Tyr) c.1-44017C>T (n.1-44017C>T) c.4369C>T (p.His1457Tyr) c.4915C>T (p.His1639Tyr) c.4732C>T (p.His1578Tyr) c.4453C>T (p.His1485Tyr) c.3496C>T (p.His1166Tyr) c.3487C>T (p.His1163Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37020562A= | CA1539619251 | NIPBL | c.5114A= (p.His1705=) c.1-44016A= (n.1-44016A=) c.4370A= (p.His1457=) c.4916A= (p.His1639=) c.4733A= (p.His1578=) c.4454A= (p.His1485=) c.3497A= (p.His1166=) c.3488A= (p.His1163=) | |
5 | g.37020562A>C | CA359486836 | NIPBL | c.5114A>C (p.His1705Pro) c.1-44016A>C (n.1-44016A>C) c.4370A>C (p.His1457Pro) c.4916A>C (p.His1639Pro) c.4733A>C (p.His1578Pro) c.4454A>C (p.His1485Pro) c.3497A>C (p.His1166Pro) c.3488A>C (p.His1163Pro) | |
5 | g.37020562A>G | CA359486833 | NIPBL | c.5114A>G (p.His1705Arg) c.1-44016A>G (n.1-44016A>G) c.4370A>G (p.His1457Arg) c.4916A>G (p.His1639Arg) c.4733A>G (p.His1578Arg) c.4454A>G (p.His1485Arg) c.3497A>G (p.His1166Arg) c.3488A>G (p.His1163Arg) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.37020562A>T | CA359486834 | NIPBL | c.5114A>T (p.His1705Leu) c.1-44016A>T (n.1-44016A>T) c.4370A>T (p.His1457Leu) c.4916A>T (p.His1639Leu) c.4733A>T (p.His1578Leu) c.4454A>T (p.His1485Leu) c.3497A>T (p.His1166Leu) c.3488A>T (p.His1163Leu) | gnomAD v4 |
5 | g.37020562_37020563insAATA | CA2840182092 | NIPBL | c.5114_5115insAATA (p.His1705GlnfsTer8) c.1-44016_1-44015insAATA (n.1-44016_1-44015insAATA) c.4370_4371insAATA (p.His1457GlnfsTer8) c.4916_4917insAATA (p.His1639GlnfsTer8) c.4733_4734insAATA (p.His1578GlnfsTer8) c.4454_4455insAATA (p.His1485GlnfsTer8) c.3497_3498insAATA (p.His1166GlnfsTer8) c.3488_3489insAATA (p.His1163GlnfsTer8) | |
5 | g.37020562_37020563insAATAT | CA2838736880 | NIPBL | c.5114_5115insAATAT (p.His1705GlnfsTer?) c.1-44016_1-44015insAATAT (n.1-44016_1-44015insAATAT) c.4370_4371insAATAT (p.His1457GlnfsTer?) c.4916_4917insAATAT (p.His1639GlnfsTer?) c.4733_4734insAATAT (p.His1578GlnfsTer?) c.4454_4455insAATAT (p.His1485GlnfsTer?) c.3497_3498insAATAT (p.His1166GlnfsTer?) c.3488_3489insAATAT (p.His1163GlnfsTer?) | |
5 | g.37020562_37020563insAATATTAAAG | CA2838341055 | NIPBL | c.5114_5115insAATATTAAAG (p.His1705GlnfsTer10) c.1-44016_1-44015insAATATTAAAG (n.1-44016_1-44015insAATATTAAAG) c.4370_4371insAATATTAAAG (p.His1457GlnfsTer10) c.4916_4917insAATATTAAAG (p.His1639GlnfsTer10) c.4733_4734insAATATTAAAG (p.His1578GlnfsTer10) c.4454_4455insAATATTAAAG (p.His1485GlnfsTer10) c.3497_3498insAATATTAAAG (p.His1166GlnfsTer10) c.3488_3489insAATATTAAAG (p.His1163GlnfsTer10) | |
5 | g.37020562_37020563insAATATTAAAGT | CA2840182093 | NIPBL | c.5114_5115insAATATTAAAGT (p.His1705GlnfsTer?) c.1-44016_1-44015insAATATTAAAGT (n.1-44016_1-44015insAATATTAAAGT) c.4370_4371insAATATTAAAGT (p.His1457GlnfsTer?) c.4916_4917insAATATTAAAGT (p.His1639GlnfsTer?) c.4733_4734insAATATTAAAGT (p.His1578GlnfsTer?) c.4454_4455insAATATTAAAGT (p.His1485GlnfsTer?) c.3497_3498insAATATTAAAGT (p.His1166GlnfsTer?) c.3488_3489insAATATTAAAGT (p.His1163GlnfsTer?) | |
5 | g.37020562_37020563insAATATTAAAGTTTACT | CA2840182094 | NIPBL | c.5114_5115insAATATTAAAGTTTACT (p.His1705GlnfsTer12) c.1-44016_1-44015insAATATTAAAGTTTACT (n.1-44016_1-44015insAATATTAAAGTTTACT) c.4370_4371insAATATTAAAGTTTACT (p.His1457GlnfsTer12) c.4916_4917insAATATTAAAGTTTACT (p.His1639GlnfsTer12) c.4733_4734insAATATTAAAGTTTACT (p.His1578GlnfsTer12) c.4454_4455insAATATTAAAGTTTACT (p.His1485GlnfsTer12) c.3497_3498insAATATTAAAGTTTACT (p.His1166GlnfsTer12) c.3488_3489insAATATTAAAGTTTACT (p.His1163GlnfsTer12) | |
5 | g.37020563T>A | CA359486838 | NIPBL | c.5115T>A (p.His1705Gln) c.1-44015T>A (n.1-44015T>A) c.4371T>A (p.His1457Gln) c.4917T>A (p.His1639Gln) c.4734T>A (p.His1578Gln) c.4455T>A (p.His1485Gln) c.3498T>A (p.His1166Gln) c.3489T>A (p.His1163Gln) | |
5 | g.37020563T>C | CA443905007 | NIPBL | c.5115T>C (p.His1705=) c.1-44015T>C (n.1-44015T>C) c.4371T>C (p.His1457=) c.4917T>C (p.His1639=) c.4734T>C (p.His1578=) c.4455T>C (p.His1485=) c.3498T>C (p.His1166=) c.3489T>C (p.His1163=) | ClinVar dbSNP |
5 | g.37020563T>G | CA359486839 | NIPBL | c.5115T>G (p.His1705Gln) c.1-44015T>G (n.1-44015T>G) c.4371T>G (p.His1457Gln) c.4917T>G (p.His1639Gln) c.4734T>G (p.His1578Gln) c.4455T>G (p.His1485Gln) c.3498T>G (p.His1166Gln) c.3489T>G (p.His1163Gln) | |
5 | g.37020564C>A | CA359486841 | NIPBL | c.5116C>A (p.His1706Asn) c.1-44014C>A (n.1-44014C>A) c.4372C>A (p.His1458Asn) c.4918C>A (p.His1640Asn) c.4735C>A (p.His1579Asn) c.4456C>A (p.His1486Asn) c.3499C>A (p.His1167Asn) c.3490C>A (p.His1164Asn) | |
5 | g.37020564C= | CA1539619254 | NIPBL | c.5116C= (p.His1706=) c.1-44014C= (n.1-44014C=) c.4372C= (p.His1458=) c.4918C= (p.His1640=) c.4735C= (p.His1579=) c.4456C= (p.His1486=) c.3499C= (p.His1167=) c.3490C= (p.His1164=) | |
5 | g.37020564C>G | CA3236701 | NIPBL | c.5116C>G (p.His1706Asp) c.1-44014C>G (n.1-44014C>G) c.4372C>G (p.His1458Asp) c.4918C>G (p.His1640Asp) c.4735C>G (p.His1579Asp) c.4456C>G (p.His1486Asp) c.3499C>G (p.His1167Asp) c.3490C>G (p.His1164Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37020564C>T | CA359486843 | NIPBL | c.5116C>T (p.His1706Tyr) c.1-44014C>T (n.1-44014C>T) c.4372C>T (p.His1458Tyr) c.4918C>T (p.His1640Tyr) c.4735C>T (p.His1579Tyr) c.4456C>T (p.His1486Tyr) c.3499C>T (p.His1167Tyr) c.3490C>T (p.His1164Tyr) | |
5 | g.37020565A>C | CA359486849 | NIPBL | c.5117A>C (p.His1706Pro) c.1-44013A>C (n.1-44013A>C) c.4373A>C (p.His1458Pro) c.4919A>C (p.His1640Pro) c.4736A>C (p.His1579Pro) c.4457A>C (p.His1486Pro) c.3500A>C (p.His1167Pro) c.3491A>C (p.His1164Pro) | |
5 | g.37020565A>G | CA359486848 | NIPBL | c.5117A>G (p.His1706Arg) c.1-44013A>G (n.1-44013A>G) c.4373A>G (p.His1458Arg) c.4919A>G (p.His1640Arg) c.4736A>G (p.His1579Arg) c.4457A>G (p.His1486Arg) c.3500A>G (p.His1167Arg) c.3491A>G (p.His1164Arg) | |
5 | g.37020565A>T | CA359486846 | NIPBL | c.5117A>T (p.His1706Leu) c.1-44013A>T (n.1-44013A>T) c.4373A>T (p.His1458Leu) c.4919A>T (p.His1640Leu) c.4736A>T (p.His1579Leu) c.4457A>T (p.His1486Leu) c.3500A>T (p.His1167Leu) c.3491A>T (p.His1164Leu) | gnomAD v4 |
5 | g.37020566T>A | CA359486850 | NIPBL | c.5118T>A (p.His1706Gln) c.1-44012T>A (n.1-44012T>A) c.4374T>A (p.His1458Gln) c.4920T>A (p.His1640Gln) c.4737T>A (p.His1579Gln) c.4458T>A (p.His1486Gln) c.3501T>A (p.His1167Gln) c.3492T>A (p.His1164Gln) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.37020566T>C | CA3236702 | NIPBL | c.5118T>C (p.His1706=) c.1-44012T>C (n.1-44012T>C) c.4374T>C (p.His1458=) c.4920T>C (p.His1640=) c.4737T>C (p.His1579=) c.4458T>C (p.His1486=) c.3501T>C (p.His1167=) c.3492T>C (p.His1164=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.37020566T>G | CA359486853 | NIPBL | c.5118T>G (p.His1706Gln) c.1-44012T>G (n.1-44012T>G) c.4374T>G (p.His1458Gln) c.4920T>G (p.His1640Gln) c.4737T>G (p.His1579Gln) c.4458T>G (p.His1486Gln) c.3501T>G (p.His1167Gln) c.3492T>G (p.His1164Gln) | |
5 | g.37020566T= | CA1539619257 | NIPBL | c.5118T= (p.His1706=) c.1-44012T= (n.1-44012T=) c.4374T= (p.His1458=) c.4920T= (p.His1640=) c.4737T= (p.His1579=) c.4458T= (p.His1486=) c.3501T= (p.His1167=) c.3492T= (p.His1164=) | |
5 | g.37020567G>A | CA359486857 | NIPBL | c.5119G>A (p.Ala1707Thr) c.1-44011G>A (n.1-44011G>A) c.4375G>A (p.Ala1459Thr) c.4921G>A (p.Ala1641Thr) c.4738G>A (p.Ala1580Thr) c.4459G>A (p.Ala1487Thr) c.3502G>A (p.Ala1168Thr) c.3493G>A (p.Ala1165Thr) | |
5 | g.37020567G>C | CA359486859 | NIPBL | c.5119G>C (p.Ala1707Pro) c.1-44011G>C (n.1-44011G>C) c.4375G>C (p.Ala1459Pro) c.4921G>C (p.Ala1641Pro) c.4738G>C (p.Ala1580Pro) c.4459G>C (p.Ala1487Pro) c.3502G>C (p.Ala1168Pro) c.3493G>C (p.Ala1165Pro) | |
5 | g.37020567G>T | CA359486861 | NIPBL | c.5119G>T (p.Ala1707Ser) c.1-44011G>T (n.1-44011G>T) c.4375G>T (p.Ala1459Ser) c.4921G>T (p.Ala1641Ser) c.4738G>T (p.Ala1580Ser) c.4459G>T (p.Ala1487Ser) c.3502G>T (p.Ala1168Ser) c.3493G>T (p.Ala1165Ser) | |
5 | g.37020568C>A | CA359486865 | NIPBL | c.5120C>A (p.Ala1707Glu) c.1-44010C>A (n.1-44010C>A) c.4376C>A (p.Ala1459Glu) c.4922C>A (p.Ala1641Glu) c.4739C>A (p.Ala1580Glu) c.4460C>A (p.Ala1487Glu) c.3503C>A (p.Ala1168Glu) c.3494C>A (p.Ala1165Glu) | |
5 | g.37020568C>G | CA359486870 | NIPBL | c.5120C>G (p.Ala1707Gly) c.1-44010C>G (n.1-44010C>G) c.4376C>G (p.Ala1459Gly) c.4922C>G (p.Ala1641Gly) c.4739C>G (p.Ala1580Gly) c.4460C>G (p.Ala1487Gly) c.3503C>G (p.Ala1168Gly) c.3494C>G (p.Ala1165Gly) | |
5 | g.37020568C>T | CA359486867 | NIPBL | c.5120C>T (p.Ala1707Val) c.1-44010C>T (n.1-44010C>T) c.4376C>T (p.Ala1459Val) c.4922C>T (p.Ala1641Val) c.4739C>T (p.Ala1580Val) c.4460C>T (p.Ala1487Val) c.3503C>T (p.Ala1168Val) c.3494C>T (p.Ala1165Val) | |
5 | g.37020569A>C | CA443905008 | NIPBL | c.5121A>C (p.Ala1707=) c.1-44009A>C (n.1-44009A>C) c.4377A>C (p.Ala1459=) c.4923A>C (p.Ala1641=) c.4740A>C (p.Ala1580=) c.4461A>C (p.Ala1487=) c.3504A>C (p.Ala1168=) c.3495A>C (p.Ala1165=) | |
5 | g.37020569A>G | CA443905009 | NIPBL | c.5121A>G (p.Ala1707=) c.1-44009A>G (n.1-44009A>G) c.4377A>G (p.Ala1459=) c.4923A>G (p.Ala1641=) c.4740A>G (p.Ala1580=) c.4461A>G (p.Ala1487=) c.3504A>G (p.Ala1168=) c.3495A>G (p.Ala1165=) | |
5 | g.37020569A>T | CA443905010 | NIPBL | c.5121A>T (p.Ala1707=) c.1-44009A>T (n.1-44009A>T) c.4377A>T (p.Ala1459=) c.4923A>T (p.Ala1641=) c.4740A>T (p.Ala1580=) c.4461A>T (p.Ala1487=) c.3504A>T (p.Ala1168=) c.3495A>T (p.Ala1165=) | |
5 | g.37020570A>C | CA359486871 | NIPBL | c.5122A>C (p.Lys1708Gln) c.1-44008A>C (n.1-44008A>C) c.4378A>C (p.Lys1460Gln) c.4924A>C (p.Lys1642Gln) c.4741A>C (p.Lys1581Gln) c.4462A>C (p.Lys1488Gln) c.3505A>C (p.Lys1169Gln) c.3496A>C (p.Lys1166Gln) | |
5 | g.37020570A>G | CA359486873 | NIPBL | c.5122A>G (p.Lys1708Glu) c.1-44008A>G (n.1-44008A>G) c.4378A>G (p.Lys1460Glu) c.4924A>G (p.Lys1642Glu) c.4741A>G (p.Lys1581Glu) c.4462A>G (p.Lys1488Glu) c.3505A>G (p.Lys1169Glu) c.3496A>G (p.Lys1166Glu) | |
5 | g.37020570A>T | CA359486875 | NIPBL | c.5122A>T (p.Lys1708Ter) c.1-44008A>T (n.1-44008A>T) c.4378A>T (p.Lys1460Ter) c.4924A>T (p.Lys1642Ter) c.4741A>T (p.Lys1581Ter) c.4462A>T (p.Lys1488Ter) c.3505A>T (p.Lys1169Ter) c.3496A>T (p.Lys1166Ter) | |
5 | g.37020571A>C | CA359486879 | NIPBL | c.5123A>C (p.Lys1708Thr) c.1-44007A>C (n.1-44007A>C) c.4379A>C (p.Lys1460Thr) c.4925A>C (p.Lys1642Thr) c.4742A>C (p.Lys1581Thr) c.4463A>C (p.Lys1488Thr) c.3506A>C (p.Lys1169Thr) c.3497A>C (p.Lys1166Thr) | |
5 | g.37020571A>G | CA359486881 | NIPBL | c.5123A>G (p.Lys1708Arg) c.1-44007A>G (n.1-44007A>G) c.4379A>G (p.Lys1460Arg) c.4925A>G (p.Lys1642Arg) c.4742A>G (p.Lys1581Arg) c.4463A>G (p.Lys1488Arg) c.3506A>G (p.Lys1169Arg) c.3497A>G (p.Lys1166Arg) | |
5 | g.37020571A>T | CA359486882 | NIPBL | c.5123A>T (p.Lys1708Met) c.1-44007A>T (n.1-44007A>T) c.4379A>T (p.Lys1460Met) c.4925A>T (p.Lys1642Met) c.4742A>T (p.Lys1581Met) c.4463A>T (p.Lys1488Met) c.3506A>T (p.Lys1169Met) c.3497A>T (p.Lys1166Met) | |
5 | g.37020572G>A | CA443905011 | NIPBL | c.5124G>A (p.Lys1708=) c.1-44006G>A (n.1-44006G>A) c.4380G>A (p.Lys1460=) c.4926G>A (p.Lys1642=) c.4743G>A (p.Lys1581=) c.4464G>A (p.Lys1488=) c.3507G>A (p.Lys1169=) c.3498G>A (p.Lys1166=) | |
5 | g.37020572G>C | CA359486884 | NIPBL | c.5124G>C (p.Lys1708Asn) c.1-44006G>C (n.1-44006G>C) c.4380G>C (p.Lys1460Asn) c.4926G>C (p.Lys1642Asn) c.4743G>C (p.Lys1581Asn) c.4464G>C (p.Lys1488Asn) c.3507G>C (p.Lys1169Asn) c.3498G>C (p.Lys1166Asn) | gnomAD v4 |
5 | g.37020572G>T | CA359486887 | NIPBL | c.5124G>T (p.Lys1708Asn) c.1-44006G>T (n.1-44006G>T) c.4380G>T (p.Lys1460Asn) c.4926G>T (p.Lys1642Asn) c.4743G>T (p.Lys1581Asn) c.4464G>T (p.Lys1488Asn) c.3507G>T (p.Lys1169Asn) c.3498G>T (p.Lys1166Asn) | |
5 | g.37020573G>A | CA359486889 | NIPBL | c.5125G>A (p.Glu1709Lys) c.1-44005G>A (n.1-44005G>A) c.4381G>A (p.Glu1461Lys) c.4927G>A (p.Glu1643Lys) c.4744G>A (p.Glu1582Lys) c.4465G>A (p.Glu1489Lys) c.3508G>A (p.Glu1170Lys) c.3499G>A (p.Glu1167Lys) | |
5 | g.37020573G>C | CA359486891 | NIPBL | c.5125G>C (p.Glu1709Gln) c.1-44005G>C (n.1-44005G>C) c.4381G>C (p.Glu1461Gln) c.4927G>C (p.Glu1643Gln) c.4744G>C (p.Glu1582Gln) c.4465G>C (p.Glu1489Gln) c.3508G>C (p.Glu1170Gln) c.3499G>C (p.Glu1167Gln) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.37020573G= | CA1539619259 | NIPBL | c.5125G= (p.Glu1709=) c.1-44005G= (n.1-44005G=) c.4381G= (p.Glu1461=) c.4927G= (p.Glu1643=) c.4744G= (p.Glu1582=) c.4465G= (p.Glu1489=) c.3508G= (p.Glu1170=) c.3499G= (p.Glu1167=) | |
5 | g.37020573G>T | CA359486895 | NIPBL | c.5125G>T (p.Glu1709Ter) c.1-44005G>T (n.1-44005G>T) c.4381G>T (p.Glu1461Ter) c.4927G>T (p.Glu1643Ter) c.4744G>T (p.Glu1582Ter) c.4465G>T (p.Glu1489Ter) c.3508G>T (p.Glu1170Ter) c.3499G>T (p.Glu1167Ter) | |
5 | g.37020574A>C | CA359486897 | NIPBL | c.5126A>C (p.Glu1709Ala) c.1-44004A>C (n.1-44004A>C) c.4382A>C (p.Glu1461Ala) c.4928A>C (p.Glu1643Ala) c.4745A>C (p.Glu1582Ala) c.4466A>C (p.Glu1489Ala) c.3509A>C (p.Glu1170Ala) c.3500A>C (p.Glu1167Ala) | ClinVar |
5 | g.37020574A>G | CA359486901 | NIPBL | c.5126A>G (p.Glu1709Gly) c.1-44004A>G (n.1-44004A>G) c.4382A>G (p.Glu1461Gly) c.4928A>G (p.Glu1643Gly) c.4745A>G (p.Glu1582Gly) c.4466A>G (p.Glu1489Gly) c.3509A>G (p.Glu1170Gly) c.3500A>G (p.Glu1167Gly) | |
5 | g.37020574A>T | CA359486900 | NIPBL | c.5126A>T (p.Glu1709Val) c.1-44004A>T (n.1-44004A>T) c.4382A>T (p.Glu1461Val) c.4928A>T (p.Glu1643Val) c.4745A>T (p.Glu1582Val) c.4466A>T (p.Glu1489Val) c.3509A>T (p.Glu1170Val) c.3500A>T (p.Glu1167Val) | |
5 | g.37020575A= | CA1539619260 | NIPBL | c.5127A= (p.Glu1709=) c.1-44003A= (n.1-44003A=) c.4383A= (p.Glu1461=) c.4929A= (p.Glu1643=) c.4746A= (p.Glu1582=) c.4467A= (p.Glu1489=) c.3510A= (p.Glu1170=) c.3501A= (p.Glu1167=) | |
5 | g.37020575A>C | CA359486904 | NIPBL | c.5127A>C (p.Glu1709Asp) c.1-44003A>C (n.1-44003A>C) c.4383A>C (p.Glu1461Asp) c.4929A>C (p.Glu1643Asp) c.4746A>C (p.Glu1582Asp) c.4467A>C (p.Glu1489Asp) c.3510A>C (p.Glu1170Asp) c.3501A>C (p.Glu1167Asp) | |
5 | g.37020575A>G | CA443905012 | NIPBL | c.5127A>G (p.Glu1709=) c.1-44003A>G (n.1-44003A>G) c.4383A>G (p.Glu1461=) c.4929A>G (p.Glu1643=) c.4746A>G (p.Glu1582=) c.4467A>G (p.Glu1489=) c.3510A>G (p.Glu1170=) c.3501A>G (p.Glu1167=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37020575A>T | CA359486907 | NIPBL | c.5127A>T (p.Glu1709Asp) c.1-44003A>T (n.1-44003A>T) c.4383A>T (p.Glu1461Asp) c.4929A>T (p.Glu1643Asp) c.4746A>T (p.Glu1582Asp) c.4467A>T (p.Glu1489Asp) c.3510A>T (p.Glu1170Asp) c.3501A>T (p.Glu1167Asp) | |
5 | g.37020576A= | CA1539619261 | NIPBL | c.5128A= (p.Ile1710=) c.1-44002A= (n.1-44002A=) c.4384A= (p.Ile1462=) c.4930A= (p.Ile1644=) c.4747A= (p.Ile1583=) c.4468A= (p.Ile1490=) c.3511A= (p.Ile1171=) c.3502A= (p.Ile1168=) | |
5 | g.37020576A>C | CA359486912 | NIPBL | c.5128A>C (p.Ile1710Leu) c.1-44002A>C (n.1-44002A>C) c.4384A>C (p.Ile1462Leu) c.4930A>C (p.Ile1644Leu) c.4747A>C (p.Ile1583Leu) c.4468A>C (p.Ile1490Leu) c.3511A>C (p.Ile1171Leu) c.3502A>C (p.Ile1168Leu) | |
5 | g.37020576A>G | CA359486916 | NIPBL | c.5128A>G (p.Ile1710Val) c.1-44002A>G (n.1-44002A>G) c.4384A>G (p.Ile1462Val) c.4930A>G (p.Ile1644Val) c.4747A>G (p.Ile1583Val) c.4468A>G (p.Ile1490Val) c.3511A>G (p.Ile1171Val) c.3502A>G (p.Ile1168Val) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.37020576A>T | CA359486913 | NIPBL | c.5128A>T (p.Ile1710Phe) c.1-44002A>T (n.1-44002A>T) c.4384A>T (p.Ile1462Phe) c.4930A>T (p.Ile1644Phe) c.4747A>T (p.Ile1583Phe) c.4468A>T (p.Ile1490Phe) c.3511A>T (p.Ile1171Phe) c.3502A>T (p.Ile1168Phe) | |
5 | g.37020577T>A | CA359486919 | NIPBL | c.5129T>A (p.Ile1710Asn) c.1-44001T>A (n.1-44001T>A) c.4385T>A (p.Ile1462Asn) c.4931T>A (p.Ile1644Asn) c.4748T>A (p.Ile1583Asn) c.4469T>A (p.Ile1490Asn) c.3512T>A (p.Ile1171Asn) c.3503T>A (p.Ile1168Asn) | |
5 | g.37020577T>C | CA359486921 | NIPBL | c.5129T>C (p.Ile1710Thr) c.1-44001T>C (n.1-44001T>C) c.4385T>C (p.Ile1462Thr) c.4931T>C (p.Ile1644Thr) c.4748T>C (p.Ile1583Thr) c.4469T>C (p.Ile1490Thr) c.3512T>C (p.Ile1171Thr) c.3503T>C (p.Ile1168Thr) | |
5 | g.37020577T>G | CA359486923 | NIPBL | c.5129T>G (p.Ile1710Ser) c.1-44001T>G (n.1-44001T>G) c.4385T>G (p.Ile1462Ser) c.4931T>G (p.Ile1644Ser) c.4748T>G (p.Ile1583Ser) c.4469T>G (p.Ile1490Ser) c.3512T>G (p.Ile1171Ser) c.3503T>G (p.Ile1168Ser) | |
5 | g.37020578T>A | CA443905013 | NIPBL | c.5130T>A (p.Ile1710=) c.1-44000T>A (n.1-44000T>A) c.4386T>A (p.Ile1462=) c.4932T>A (p.Ile1644=) c.4749T>A (p.Ile1583=) c.4470T>A (p.Ile1490=) c.3513T>A (p.Ile1171=) c.3504T>A (p.Ile1168=) | |
5 | g.37020578T>C | CA443905014 | NIPBL | c.5130T>C (p.Ile1710=) c.1-44000T>C (n.1-44000T>C) c.4386T>C (p.Ile1462=) c.4932T>C (p.Ile1644=) c.4749T>C (p.Ile1583=) c.4470T>C (p.Ile1490=) c.3513T>C (p.Ile1171=) c.3504T>C (p.Ile1168=) | |
5 | g.37020578T>G | CA359486926 | NIPBL | c.5130T>G (p.Ile1710Met) c.1-44000T>G (n.1-44000T>G) c.4386T>G (p.Ile1462Met) c.4932T>G (p.Ile1644Met) c.4749T>G (p.Ile1583Met) c.4470T>G (p.Ile1490Met) c.3513T>G (p.Ile1171Met) c.3504T>G (p.Ile1168Met) | |
5 | g.37020579G>A | CA359486929 | NIPBL | c.5131G>A (p.Glu1711Lys) c.1-43999G>A (n.1-43999G>A) c.4387G>A (p.Glu1463Lys) c.4933G>A (p.Glu1645Lys) c.4750G>A (p.Glu1584Lys) c.4471G>A (p.Glu1491Lys) c.3514G>A (p.Glu1172Lys) c.3505G>A (p.Glu1169Lys) | |
5 | g.37020579G>C | CA359486932 | NIPBL | c.5131G>C (p.Glu1711Gln) c.1-43999G>C (n.1-43999G>C) c.4387G>C (p.Glu1463Gln) c.4933G>C (p.Glu1645Gln) c.4750G>C (p.Glu1584Gln) c.4471G>C (p.Glu1491Gln) c.3514G>C (p.Glu1172Gln) c.3505G>C (p.Glu1169Gln) | |
5 | g.37020579G>T | CA359486933 | NIPBL | c.5131G>T (p.Glu1711Ter) c.1-43999G>T (n.1-43999G>T) c.4387G>T (p.Glu1463Ter) c.4933G>T (p.Glu1645Ter) c.4750G>T (p.Glu1584Ter) c.4471G>T (p.Glu1491Ter) c.3514G>T (p.Glu1172Ter) c.3505G>T (p.Glu1169Ter) | |
5 | g.37020580A>C | CA359486936 | NIPBL | c.5132A>C (p.Glu1711Ala) c.1-43998A>C (n.1-43998A>C) c.4388A>C (p.Glu1463Ala) c.4934A>C (p.Glu1645Ala) c.4751A>C (p.Glu1584Ala) c.4472A>C (p.Glu1491Ala) c.3515A>C (p.Glu1172Ala) c.3506A>C (p.Glu1169Ala) | |
5 | g.37020580A>G | CA359486939 | NIPBL | c.5132A>G (p.Glu1711Gly) c.1-43998A>G (n.1-43998A>G) c.4388A>G (p.Glu1463Gly) c.4934A>G (p.Glu1645Gly) c.4751A>G (p.Glu1584Gly) c.4472A>G (p.Glu1491Gly) c.3515A>G (p.Glu1172Gly) c.3506A>G (p.Glu1169Gly) | |
5 | g.37020580A>T | CA359486940 | NIPBL | c.5132A>T (p.Glu1711Val) c.1-43998A>T (n.1-43998A>T) c.4388A>T (p.Glu1463Val) c.4934A>T (p.Glu1645Val) c.4751A>T (p.Glu1584Val) c.4472A>T (p.Glu1491Val) c.3515A>T (p.Glu1172Val) c.3506A>T (p.Glu1169Val) | |
5 | g.37020581G>A | CA443905015 | NIPBL | c.5133G>A (p.Glu1711=) c.1-43997G>A (n.1-43997G>A) c.4389G>A (p.Glu1463=) c.4935G>A (p.Glu1645=) c.4752G>A (p.Glu1584=) c.4473G>A (p.Glu1491=) c.3516G>A (p.Glu1172=) c.3507G>A (p.Glu1169=) | |
5 | g.37020581G>C | CA359486943 | NIPBL | c.5133G>C (p.Glu1711Asp) c.1-43997G>C (n.1-43997G>C) c.4389G>C (p.Glu1463Asp) c.4935G>C (p.Glu1645Asp) c.4752G>C (p.Glu1584Asp) c.4473G>C (p.Glu1491Asp) c.3516G>C (p.Glu1172Asp) c.3507G>C (p.Glu1169Asp) | |
5 | g.37020581G>T | CA359486946 | NIPBL | c.5133G>T (p.Glu1711Asp) c.1-43997G>T (n.1-43997G>T) c.4389G>T (p.Glu1463Asp) c.4935G>T (p.Glu1645Asp) c.4752G>T (p.Glu1584Asp) c.4473G>T (p.Glu1491Asp) c.3516G>T (p.Glu1172Asp) c.3507G>T (p.Glu1169Asp) | |
5 | g.37020582A>C | CA359486949 | NIPBL | c.5134A>C (p.Thr1712Pro) c.1-43996A>C (n.1-43996A>C) c.4390A>C (p.Thr1464Pro) c.4936A>C (p.Thr1646Pro) c.4753A>C (p.Thr1585Pro) c.4474A>C (p.Thr1492Pro) c.3517A>C (p.Thr1173Pro) c.3508A>C (p.Thr1170Pro) | |
5 | g.37020582A>G | CA359486955 | NIPBL | c.5134A>G (p.Thr1712Ala) c.1-43996A>G (n.1-43996A>G) c.4390A>G (p.Thr1464Ala) c.4936A>G (p.Thr1646Ala) c.4753A>G (p.Thr1585Ala) c.4474A>G (p.Thr1492Ala) c.3517A>G (p.Thr1173Ala) c.3508A>G (p.Thr1170Ala) | |
5 | g.37020582A>T | CA359486952 | NIPBL | c.5134A>T (p.Thr1712Ser) c.1-43996A>T (n.1-43996A>T) c.4390A>T (p.Thr1464Ser) c.4936A>T (p.Thr1646Ser) c.4753A>T (p.Thr1585Ser) c.4474A>T (p.Thr1492Ser) c.3517A>T (p.Thr1173Ser) c.3508A>T (p.Thr1170Ser) | |
5 | g.37020583C>A | CA359486957 | NIPBL | c.5135C>A (p.Thr1712Lys) c.1-43995C>A (n.1-43995C>A) c.4391C>A (p.Thr1464Lys) c.4937C>A (p.Thr1646Lys) c.4754C>A (p.Thr1585Lys) c.4475C>A (p.Thr1492Lys) c.3518C>A (p.Thr1173Lys) c.3509C>A (p.Thr1170Lys) | gnomAD v4 |
5 | g.37020583C>G | CA359486959 | NIPBL | c.5135C>G (p.Thr1712Arg) c.1-43995C>G (n.1-43995C>G) c.4391C>G (p.Thr1464Arg) c.4937C>G (p.Thr1646Arg) c.4754C>G (p.Thr1585Arg) c.4475C>G (p.Thr1492Arg) c.3518C>G (p.Thr1173Arg) c.3509C>G (p.Thr1170Arg) | |
5 | g.37020583C>T | CA359486962 | NIPBL | c.5135C>T (p.Thr1712Ile) c.1-43995C>T (n.1-43995C>T) c.4391C>T (p.Thr1464Ile) c.4937C>T (p.Thr1646Ile) c.4754C>T (p.Thr1585Ile) c.4475C>T (p.Thr1492Ile) c.3518C>T (p.Thr1173Ile) c.3509C>T (p.Thr1170Ile) | gnomAD v4 |
5 | g.37020584A>C | CA443905016 | NIPBL | c.5136A>C (p.Thr1712=) c.1-43994A>C (n.1-43994A>C) c.4392A>C (p.Thr1464=) c.4938A>C (p.Thr1646=) c.4755A>C (p.Thr1585=) c.4476A>C (p.Thr1492=) c.3519A>C (p.Thr1173=) c.3510A>C (p.Thr1170=) | |
5 | g.37020584A>G | CA443905017 | NIPBL | c.5136A>G (p.Thr1712=) c.1-43994A>G (n.1-43994A>G) c.4392A>G (p.Thr1464=) c.4938A>G (p.Thr1646=) c.4755A>G (p.Thr1585=) c.4476A>G (p.Thr1492=) c.3519A>G (p.Thr1173=) c.3510A>G (p.Thr1170=) | |
5 | g.37020584A>T | CA443905018 | NIPBL | c.5136A>T (p.Thr1712=) c.1-43994A>T (n.1-43994A>T) c.4392A>T (p.Thr1464=) c.4938A>T (p.Thr1646=) c.4755A>T (p.Thr1585=) c.4476A>T (p.Thr1492=) c.3519A>T (p.Thr1173=) c.3510A>T (p.Thr1170=) | |
5 | g.37020585A= | CA1539619262 | NIPBL | c.5137A= (p.Thr1713=) c.1-43993A= (n.1-43993A=) c.4393A= (p.Thr1465=) c.4939A= (p.Thr1647=) c.4756A= (p.Thr1586=) c.4477A= (p.Thr1493=) c.3520A= (p.Thr1174=) c.3511A= (p.Thr1171=) | |
5 | g.37020585A>C | CA359486967 | NIPBL | c.5137A>C (p.Thr1713Pro) c.1-43993A>C (n.1-43993A>C) c.4393A>C (p.Thr1465Pro) c.4939A>C (p.Thr1647Pro) c.4756A>C (p.Thr1586Pro) c.4477A>C (p.Thr1493Pro) c.3520A>C (p.Thr1174Pro) c.3511A>C (p.Thr1171Pro) | |
5 | g.37020585A>G | CA3236703 | NIPBL | c.5137A>G (p.Thr1713Ala) c.1-43993A>G (n.1-43993A>G) c.4393A>G (p.Thr1465Ala) c.4939A>G (p.Thr1647Ala) c.4756A>G (p.Thr1586Ala) c.4477A>G (p.Thr1493Ala) c.3520A>G (p.Thr1174Ala) c.3511A>G (p.Thr1171Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37020585A>T | CA359486971 | NIPBL | c.5137A>T (p.Thr1713Ser) c.1-43993A>T (n.1-43993A>T) c.4393A>T (p.Thr1465Ser) c.4939A>T (p.Thr1647Ser) c.4756A>T (p.Thr1586Ser) c.4477A>T (p.Thr1493Ser) c.3520A>T (p.Thr1174Ser) c.3511A>T (p.Thr1171Ser) | gnomAD v4 |
5 | g.37020586C>A | CA359486973 | NIPBL | c.5138C>A (p.Thr1713Asn) c.1-43992C>A (n.1-43992C>A) c.4394C>A (p.Thr1465Asn) c.4940C>A (p.Thr1647Asn) c.4757C>A (p.Thr1586Asn) c.4478C>A (p.Thr1493Asn) c.3521C>A (p.Thr1174Asn) c.3512C>A (p.Thr1171Asn) | |
5 | g.37020586C>G | CA359486975 | NIPBL | c.5138C>G (p.Thr1713Ser) c.1-43992C>G (n.1-43992C>G) c.4394C>G (p.Thr1465Ser) c.4940C>G (p.Thr1647Ser) c.4757C>G (p.Thr1586Ser) c.4478C>G (p.Thr1493Ser) c.3521C>G (p.Thr1174Ser) c.3512C>G (p.Thr1171Ser) | |
5 | g.37020586C>T | CA359486978 | NIPBL | c.5138C>T (p.Thr1713Ile) c.1-43992C>T (n.1-43992C>T) c.4394C>T (p.Thr1465Ile) c.4940C>T (p.Thr1647Ile) c.4757C>T (p.Thr1586Ile) c.4478C>T (p.Thr1493Ile) c.3521C>T (p.Thr1174Ile) c.3512C>T (p.Thr1171Ile) | gnomAD v4 |
5 | g.37020587T>A | CA443905019 | NIPBL | c.5139T>A (p.Thr1713=) c.1-43991T>A (n.1-43991T>A) c.4395T>A (p.Thr1465=) c.4941T>A (p.Thr1647=) c.4758T>A (p.Thr1586=) c.4479T>A (p.Thr1493=) c.3522T>A (p.Thr1174=) c.3513T>A (p.Thr1171=) | |
5 | g.37020587T>C | CA443905021 | NIPBL | c.5139T>C (p.Thr1713=) c.1-43991T>C (n.1-43991T>C) c.4395T>C (p.Thr1465=) c.4941T>C (p.Thr1647=) c.4758T>C (p.Thr1586=) c.4479T>C (p.Thr1493=) c.3522T>C (p.Thr1174=) c.3513T>C (p.Thr1171=) | |
5 | g.37020587T>G | CA443905020 | NIPBL | c.5139T>G (p.Thr1713=) c.1-43991T>G (n.1-43991T>G) c.4395T>G (p.Thr1465=) c.4941T>G (p.Thr1647=) c.4758T>G (p.Thr1586=) c.4479T>G (p.Thr1493=) c.3522T>G (p.Thr1174=) c.3513T>G (p.Thr1171=) | |
5 | g.37020588G>A | CA359486982 | NIPBL | c.5140G>A (p.Gly1714Ser) c.1-43990G>A (n.1-43990G>A) c.4396G>A (p.Gly1466Ser) c.4942G>A (p.Gly1648Ser) c.4759G>A (p.Gly1587Ser) c.4480G>A (p.Gly1494Ser) c.3523G>A (p.Gly1175Ser) c.3514G>A (p.Gly1172Ser) | gnomAD v4 |
5 | g.37020588G>C | CA359486984 | NIPBL | c.5140G>C (p.Gly1714Arg) c.1-43990G>C (n.1-43990G>C) c.4396G>C (p.Gly1466Arg) c.4942G>C (p.Gly1648Arg) c.4759G>C (p.Gly1587Arg) c.4480G>C (p.Gly1494Arg) c.3523G>C (p.Gly1175Arg) c.3514G>C (p.Gly1172Arg) | |
5 | g.37020588G>T | CA359486980 | NIPBL | c.5140G>T (p.Gly1714Cys) c.1-43990G>T (n.1-43990G>T) c.4396G>T (p.Gly1466Cys) c.4942G>T (p.Gly1648Cys) c.4759G>T (p.Gly1587Cys) c.4480G>T (p.Gly1494Cys) c.3523G>T (p.Gly1175Cys) c.3514G>T (p.Gly1172Cys) | |
5 | g.37020589G>A | CA359486986 | NIPBL | c.5141G>A (p.Gly1714Asp) c.1-43989G>A (n.1-43989G>A) c.4397G>A (p.Gly1466Asp) c.4943G>A (p.Gly1648Asp) c.4760G>A (p.Gly1587Asp) c.4481G>A (p.Gly1494Asp) c.3524G>A (p.Gly1175Asp) c.3515G>A (p.Gly1172Asp) | |
5 | g.37020589G>C | CA359486989 | NIPBL | c.5141G>C (p.Gly1714Ala) c.1-43989G>C (n.1-43989G>C) c.4397G>C (p.Gly1466Ala) c.4943G>C (p.Gly1648Ala) c.4760G>C (p.Gly1587Ala) c.4481G>C (p.Gly1494Ala) c.3524G>C (p.Gly1175Ala) c.3515G>C (p.Gly1172Ala) | |
5 | g.37020589G>T | CA359486990 | NIPBL | c.5141G>T (p.Gly1714Val) c.1-43989G>T (n.1-43989G>T) c.4397G>T (p.Gly1466Val) c.4943G>T (p.Gly1648Val) c.4760G>T (p.Gly1587Val) c.4481G>T (p.Gly1494Val) c.3524G>T (p.Gly1175Val) c.3515G>T (p.Gly1172Val) | |
5 | g.37020590C>A | CA443905022 | NIPBL | c.5142C>A (p.Gly1714=) c.1-43988C>A (n.1-43988C>A) c.4398C>A (p.Gly1466=) c.4944C>A (p.Gly1648=) c.4761C>A (p.Gly1587=) c.4482C>A (p.Gly1494=) c.3525C>A (p.Gly1175=) c.3516C>A (p.Gly1172=) | |
5 | g.37020590C>G | CA443905023 | NIPBL | c.5142C>G (p.Gly1714=) c.1-43988C>G (n.1-43988C>G) c.4398C>G (p.Gly1466=) c.4944C>G (p.Gly1648=) c.4761C>G (p.Gly1587=) c.4482C>G (p.Gly1494=) c.3525C>G (p.Gly1175=) c.3516C>G (p.Gly1172=) | |
5 | g.37020590C>T | CA443905024 | NIPBL | c.5142C>T (p.Gly1714=) c.1-43988C>T (n.1-43988C>T) c.4398C>T (p.Gly1466=) c.4944C>T (p.Gly1648=) c.4761C>T (p.Gly1587=) c.4482C>T (p.Gly1494=) c.3525C>T (p.Gly1175=) c.3516C>T (p.Gly1172=) | |
5 | g.37020591C>A | CA359486994 | NIPBL | c.5143C>A (p.Gln1715Lys) c.1-43987C>A (n.1-43987C>A) c.4399C>A (p.Gln1467Lys) c.4945C>A (p.Gln1649Lys) c.4762C>A (p.Gln1588Lys) c.4483C>A (p.Gln1495Lys) c.3526C>A (p.Gln1176Lys) c.3517C>A (p.Gln1173Lys) | |
5 | g.37020591C>G | CA359486999 | NIPBL | c.5143C>G (p.Gln1715Glu) c.1-43987C>G (n.1-43987C>G) c.4399C>G (p.Gln1467Glu) c.4945C>G (p.Gln1649Glu) c.4762C>G (p.Gln1588Glu) c.4483C>G (p.Gln1495Glu) c.3526C>G (p.Gln1176Glu) c.3517C>G (p.Gln1173Glu) | gnomAD v4 |
5 | g.37020591C>T | CA359487001 | NIPBL | c.5143C>T (p.Gln1715Ter) c.1-43987C>T (n.1-43987C>T) c.4399C>T (p.Gln1467Ter) c.4945C>T (p.Gln1649Ter) c.4762C>T (p.Gln1588Ter) c.4483C>T (p.Gln1495Ter) c.3526C>T (p.Gln1176Ter) c.3517C>T (p.Gln1173Ter) | |
5 | g.37020592A>C | CA359487003 | NIPBL | c.5144A>C (p.Gln1715Pro) c.1-43986A>C (n.1-43986A>C) c.4400A>C (p.Gln1467Pro) c.4946A>C (p.Gln1649Pro) c.4763A>C (p.Gln1588Pro) c.4484A>C (p.Gln1495Pro) c.3527A>C (p.Gln1176Pro) c.3518A>C (p.Gln1173Pro) | |
5 | g.37020592A>G | CA359487006 | NIPBL | c.5144A>G (p.Gln1715Arg) c.1-43986A>G (n.1-43986A>G) c.4400A>G (p.Gln1467Arg) c.4946A>G (p.Gln1649Arg) c.4763A>G (p.Gln1588Arg) c.4484A>G (p.Gln1495Arg) c.3527A>G (p.Gln1176Arg) c.3518A>G (p.Gln1173Arg) | |
5 | g.37020592A>T | CA359487011 | NIPBL | c.5144A>T (p.Gln1715Leu) c.1-43986A>T (n.1-43986A>T) c.4400A>T (p.Gln1467Leu) c.4946A>T (p.Gln1649Leu) c.4763A>T (p.Gln1588Leu) c.4484A>T (p.Gln1495Leu) c.3527A>T (p.Gln1176Leu) c.3518A>T (p.Gln1173Leu) | |
5 | g.37020593A>C | CA359487014 | NIPBL | c.5145A>C (p.Gln1715His) c.1-43985A>C (n.1-43985A>C) c.4401A>C (p.Gln1467His) c.4947A>C (p.Gln1649His) c.4764A>C (p.Gln1588His) c.4485A>C (p.Gln1495His) c.3528A>C (p.Gln1176His) c.3519A>C (p.Gln1173His) | |
5 | g.37020593A>G | CA443905046 | NIPBL | c.5145A>G (p.Gln1715=) c.1-43985A>G (n.1-43985A>G) c.4401A>G (p.Gln1467=) c.4947A>G (p.Gln1649=) c.4764A>G (p.Gln1588=) c.4485A>G (p.Gln1495=) c.3528A>G (p.Gln1176=) c.3519A>G (p.Gln1173=) | |
5 | g.37020593A>T | CA359487017 | NIPBL | c.5145A>T (p.Gln1715His) c.1-43985A>T (n.1-43985A>T) c.4401A>T (p.Gln1467His) c.4947A>T (p.Gln1649His) c.4764A>T (p.Gln1588His) c.4485A>T (p.Gln1495His) c.3528A>T (p.Gln1176His) c.3519A>T (p.Gln1173His) | |
5 | g.37020594A= | CA1539619263 | NIPBL | c.5146A= (p.Ile1716=) c.1-43984A= (n.1-43984A=) c.4402A= (p.Ile1468=) c.4948A= (p.Ile1650=) c.4765A= (p.Ile1589=) c.4486A= (p.Ile1496=) c.3529A= (p.Ile1177=) c.3520A= (p.Ile1174=) | |
5 | g.37020594A>C | CA359487022 | NIPBL | c.5146A>C (p.Ile1716Leu) c.1-43984A>C (n.1-43984A>C) c.4402A>C (p.Ile1468Leu) c.4948A>C (p.Ile1650Leu) c.4765A>C (p.Ile1589Leu) c.4486A>C (p.Ile1496Leu) c.3529A>C (p.Ile1177Leu) c.3520A>C (p.Ile1174Leu) | |
5 | g.37020594A>G | CA359487023 | NIPBL | c.5146A>G (p.Ile1716Val) c.1-43984A>G (n.1-43984A>G) c.4402A>G (p.Ile1468Val) c.4948A>G (p.Ile1650Val) c.4765A>G (p.Ile1589Val) c.4486A>G (p.Ile1496Val) c.3529A>G (p.Ile1177Val) c.3520A>G (p.Ile1174Val) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37020594A>T | CA359487019 | NIPBL | c.5146A>T (p.Ile1716Phe) c.1-43984A>T (n.1-43984A>T) c.4402A>T (p.Ile1468Phe) c.4948A>T (p.Ile1650Phe) c.4765A>T (p.Ile1589Phe) c.4486A>T (p.Ile1496Phe) c.3529A>T (p.Ile1177Phe) c.3520A>T (p.Ile1174Phe) | |
5 | g.37020595T>A | CA359487025 | NIPBL | c.5147T>A (p.Ile1716Asn) c.1-43983T>A (n.1-43983T>A) c.4403T>A (p.Ile1468Asn) c.4949T>A (p.Ile1650Asn) c.4766T>A (p.Ile1589Asn) c.4487T>A (p.Ile1496Asn) c.3530T>A (p.Ile1177Asn) c.3521T>A (p.Ile1174Asn) | |
5 | g.37020595T>C | CA359487027 | NIPBL | c.5147T>C (p.Ile1716Thr) c.1-43983T>C (n.1-43983T>C) c.4403T>C (p.Ile1468Thr) c.4949T>C (p.Ile1650Thr) c.4766T>C (p.Ile1589Thr) c.4487T>C (p.Ile1496Thr) c.3530T>C (p.Ile1177Thr) c.3521T>C (p.Ile1174Thr) | |
5 | g.37020595T>G | CA359487028 | NIPBL | c.5147T>G (p.Ile1716Ser) c.1-43983T>G (n.1-43983T>G) c.4403T>G (p.Ile1468Ser) c.4949T>G (p.Ile1650Ser) c.4766T>G (p.Ile1589Ser) c.4487T>G (p.Ile1496Ser) c.3530T>G (p.Ile1177Ser) c.3521T>G (p.Ile1174Ser) | |
5 | g.37020596T>A | CA443905049 | NIPBL | c.5148T>A (p.Ile1716=) c.1-43982T>A (n.1-43982T>A) c.4404T>A (p.Ile1468=) c.4950T>A (p.Ile1650=) c.4767T>A (p.Ile1589=) c.4488T>A (p.Ile1496=) c.3531T>A (p.Ile1177=) c.3522T>A (p.Ile1174=) | |
5 | g.37020596T>C | CA443905048 | NIPBL | c.5148T>C (p.Ile1716=) c.1-43982T>C (n.1-43982T>C) c.4404T>C (p.Ile1468=) c.4950T>C (p.Ile1650=) c.4767T>C (p.Ile1589=) c.4488T>C (p.Ile1496=) c.3531T>C (p.Ile1177=) c.3522T>C (p.Ile1174=) | |
5 | g.37020596T>G | CA359487030 | NIPBL | c.5148T>G (p.Ile1716Met) c.1-43982T>G (n.1-43982T>G) c.4404T>G (p.Ile1468Met) c.4950T>G (p.Ile1650Met) c.4767T>G (p.Ile1589Met) c.4488T>G (p.Ile1496Met) c.3531T>G (p.Ile1177Met) c.3522T>G (p.Ile1174Met) | |
5 | g.37020597_37020602del | CA2673553327 | NIPBL | c.5149_5154del (p.Met1717_His1718del) c.1-43981_1-43976del (n.1-43981_1-43976del) c.4405_4410del (p.Met1469_His1470del) c.4951_4956del (p.Met1651_His1652del) c.4768_4773del (p.Met1590_His1591del) c.4489_4494del (p.Met1497_His1498del) c.3532_3537del (p.Met1178_His1179del) c.3523_3528del (p.Met1175_His1176del) | gnomAD v4 |
5 | g.37020597A>C | CA359487046 | NIPBL | c.5149A>C (p.Met1717Leu) c.1-43981A>C (n.1-43981A>C) c.4405A>C (p.Met1469Leu) c.4951A>C (p.Met1651Leu) c.4768A>C (p.Met1590Leu) c.4489A>C (p.Met1497Leu) c.3532A>C (p.Met1178Leu) c.3523A>C (p.Met1175Leu) | gnomAD v4 |
5 | g.37020597A>G | CA359487040 | NIPBL | c.5149A>G (p.Met1717Val) c.1-43981A>G (n.1-43981A>G) c.4405A>G (p.Met1469Val) c.4951A>G (p.Met1651Val) c.4768A>G (p.Met1590Val) c.4489A>G (p.Met1497Val) c.3532A>G (p.Met1178Val) c.3523A>G (p.Met1175Val) | |
5 | g.37020597A>T | CA359487037 | NIPBL | c.5149A>T (p.Met1717Leu) c.1-43981A>T (n.1-43981A>T) c.4405A>T (p.Met1469Leu) c.4951A>T (p.Met1651Leu) c.4768A>T (p.Met1590Leu) c.4489A>T (p.Met1497Leu) c.3532A>T (p.Met1178Leu) c.3523A>T (p.Met1175Leu) | |
5 | g.37020598T>A | CA359487050 | NIPBL | c.5150T>A (p.Met1717Lys) c.1-43980T>A (n.1-43980T>A) c.4406T>A (p.Met1469Lys) c.4952T>A (p.Met1651Lys) c.4769T>A (p.Met1590Lys) c.4490T>A (p.Met1497Lys) c.3533T>A (p.Met1178Lys) c.3524T>A (p.Met1175Lys) | |
5 | g.37020598T>C | CA359487051 | NIPBL | c.5150T>C (p.Met1717Thr) c.1-43980T>C (n.1-43980T>C) c.4406T>C (p.Met1469Thr) c.4952T>C (p.Met1651Thr) c.4769T>C (p.Met1590Thr) c.4490T>C (p.Met1497Thr) c.3533T>C (p.Met1178Thr) c.3524T>C (p.Met1175Thr) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37020598T>G | CA359487053 | NIPBL | c.5150T>G (p.Met1717Arg) c.1-43980T>G (n.1-43980T>G) c.4406T>G (p.Met1469Arg) c.4952T>G (p.Met1651Arg) c.4769T>G (p.Met1590Arg) c.4490T>G (p.Met1497Arg) c.3533T>G (p.Met1178Arg) c.3524T>G (p.Met1175Arg) | |
5 | g.37020598T= | CA1539619264 | NIPBL | c.5150T= (p.Met1717=) c.1-43980T= (n.1-43980T=) c.4406T= (p.Met1469=) c.4952T= (p.Met1651=) c.4769T= (p.Met1590=) c.4490T= (p.Met1497=) c.3533T= (p.Met1178=) c.3524T= (p.Met1175=) | |
5 | g.37020599G>A | CA359487057 | NIPBL | c.5151G>A (p.Met1717Ile) c.1-43979G>A (n.1-43979G>A) c.4407G>A (p.Met1469Ile) c.4953G>A (p.Met1651Ile) c.4770G>A (p.Met1590Ile) c.4491G>A (p.Met1497Ile) c.3534G>A (p.Met1178Ile) c.3525G>A (p.Met1175Ile) | |
5 | g.37020599G>C | CA359487060 | NIPBL | c.5151G>C (p.Met1717Ile) c.1-43979G>C (n.1-43979G>C) c.4407G>C (p.Met1469Ile) c.4953G>C (p.Met1651Ile) c.4770G>C (p.Met1590Ile) c.4491G>C (p.Met1497Ile) c.3534G>C (p.Met1178Ile) c.3525G>C (p.Met1175Ile) | |
5 | g.37020599G>T | CA359487064 | NIPBL | c.5151G>T (p.Met1717Ile) c.1-43979G>T (n.1-43979G>T) c.4407G>T (p.Met1469Ile) c.4953G>T (p.Met1651Ile) c.4770G>T (p.Met1590Ile) c.4491G>T (p.Met1497Ile) c.3534G>T (p.Met1178Ile) c.3525G>T (p.Met1175Ile) | |
5 | g.37020600C>A | CA359487073 | NIPBL | c.5152C>A (p.His1718Asn) c.1-43978C>A (n.1-43978C>A) c.4408C>A (p.His1470Asn) c.4954C>A (p.His1652Asn) c.4771C>A (p.His1591Asn) c.4492C>A (p.His1498Asn) c.3535C>A (p.His1179Asn) c.3526C>A (p.His1176Asn) | |
5 | g.37020600C>G | CA359487072 | NIPBL | c.5152C>G (p.His1718Asp) c.1-43978C>G (n.1-43978C>G) c.4408C>G (p.His1470Asp) c.4954C>G (p.His1652Asp) c.4771C>G (p.His1591Asp) c.4492C>G (p.His1498Asp) c.3535C>G (p.His1179Asp) c.3526C>G (p.His1176Asp) | |
5 | g.37020600C>T | CA359487069 | NIPBL | c.5152C>T (p.His1718Tyr) c.1-43978C>T (n.1-43978C>T) c.4408C>T (p.His1470Tyr) c.4954C>T (p.His1652Tyr) c.4771C>T (p.His1591Tyr) c.4492C>T (p.His1498Tyr) c.3535C>T (p.His1179Tyr) c.3526C>T (p.His1176Tyr) | COSMIC COSMIC |
5 | g.37020601A= | CA1539619265 | NIPBL | c.5153A= (p.His1718=) c.1-43977A= (n.1-43977A=) c.4409A= (p.His1470=) c.4955A= (p.His1652=) c.4772A= (p.His1591=) c.4493A= (p.His1498=) c.3536A= (p.His1179=) c.3527A= (p.His1176=) | |
5 | g.37020601A>C | CA359487077 | NIPBL | c.5153A>C (p.His1718Pro) c.1-43977A>C (n.1-43977A>C) c.4409A>C (p.His1470Pro) c.4955A>C (p.His1652Pro) c.4772A>C (p.His1591Pro) c.4493A>C (p.His1498Pro) c.3536A>C (p.His1179Pro) c.3527A>C (p.His1176Pro) | |
5 | g.37020601A>G | CA3236704 | NIPBL | c.5153A>G (p.His1718Arg) c.1-43977A>G (n.1-43977A>G) c.4409A>G (p.His1470Arg) c.4955A>G (p.His1652Arg) c.4772A>G (p.His1591Arg) c.4493A>G (p.His1498Arg) c.3536A>G (p.His1179Arg) c.3527A>G (p.His1176Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.37020601A>T | CA359487081 | NIPBL | c.5153A>T (p.His1718Leu) c.1-43977A>T (n.1-43977A>T) c.4409A>T (p.His1470Leu) c.4955A>T (p.His1652Leu) c.4772A>T (p.His1591Leu) c.4493A>T (p.His1498Leu) c.3536A>T (p.His1179Leu) c.3527A>T (p.His1176Leu) | gnomAD v4 |
5 | g.37020602T>A | CA359487087 | NIPBL | c.5154T>A (p.His1718Gln) c.1-43976T>A (n.1-43976T>A) c.4410T>A (p.His1470Gln) c.4956T>A (p.His1652Gln) c.4773T>A (p.His1591Gln) c.4494T>A (p.His1498Gln) c.3537T>A (p.His1179Gln) c.3528T>A (p.His1176Gln) | |
5 | g.37020602T>C | CA443905055 | NIPBL | c.5154T>C (p.His1718=) c.1-43976T>C (n.1-43976T>C) c.4410T>C (p.His1470=) c.4956T>C (p.His1652=) c.4773T>C (p.His1591=) c.4494T>C (p.His1498=) c.3537T>C (p.His1179=) c.3528T>C (p.His1176=) | |
5 | g.37020602T>G | CA359487090 | NIPBL | c.5154T>G (p.His1718Gln) c.1-43976T>G (n.1-43976T>G) c.4410T>G (p.His1470Gln) c.4956T>G (p.His1652Gln) c.4773T>G (p.His1591Gln) c.4494T>G (p.His1498Gln) c.3537T>G (p.His1179Gln) c.3528T>G (p.His1176Gln) | |
5 | g.37020603C>A | CA443905056 | NIPBL | c.5155C>A (p.Arg1719=) c.1-43975C>A (n.1-43975C>A) c.4411C>A (p.Arg1471=) c.4957C>A (p.Arg1653=) c.4774C>A (p.Arg1592=) c.4495C>A (p.Arg1499=) c.3538C>A (p.Arg1180=) c.3529C>A (p.Arg1177=) | |
5 | g.37020603C>G | CA359487093 | NIPBL | c.5155C>G (p.Arg1719Gly) c.1-43975C>G (n.1-43975C>G) c.4411C>G (p.Arg1471Gly) c.4957C>G (p.Arg1653Gly) c.4774C>G (p.Arg1592Gly) c.4495C>G (p.Arg1499Gly) c.3538C>G (p.Arg1180Gly) c.3529C>G (p.Arg1177Gly) | |
5 | g.37020603C>T | CA359487097 | NIPBL | c.5155C>T (p.Arg1719Ter) c.1-43975C>T (n.1-43975C>T) c.4411C>T (p.Arg1471Ter) c.4957C>T (p.Arg1653Ter) c.4774C>T (p.Arg1592Ter) c.4495C>T (p.Arg1499Ter) c.3538C>T (p.Arg1180Ter) c.3529C>T (p.Arg1177Ter) |