| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37016069_37016144dup | CA2499217843 | NIPBL | c.4675_4750dup (p.Leu1584GlnfsTer5) c.1-48509_1-48434dup (n.1-48509_1-48434dup) c.3931_4006dup (p.Leu1336GlnfsTer5) c.4477_4552dup (p.Leu1518GlnfsTer5) c.4294_4369dup (p.Leu1457GlnfsTer5) c.4015_4090dup (p.Leu1364GlnfsTer5) c.3058_3133dup (p.Leu1045GlnfsTer5) c.3049_3124dup (p.Leu1042GlnfsTer5) | ClinVar dbSNP |
| 5 | g.37016088T>A | CA359482488 | NIPBL | c.4694T>A (p.Phe1565Tyr) c.1-48490T>A (n.1-48490T>A) c.3950T>A (p.Phe1317Tyr) c.4496T>A (p.Phe1499Tyr) c.4313T>A (p.Phe1438Tyr) c.4034T>A (p.Phe1345Tyr) c.3077T>A (p.Phe1026Tyr) c.3068T>A (p.Phe1023Tyr) | |
| 5 | g.37016088T>C | CA359482445 | NIPBL | c.4694T>C (p.Phe1565Ser) c.1-48490T>C (n.1-48490T>C) c.3950T>C (p.Phe1317Ser) c.4496T>C (p.Phe1499Ser) c.4313T>C (p.Phe1438Ser) c.4034T>C (p.Phe1345Ser) c.3077T>C (p.Phe1026Ser) c.3068T>C (p.Phe1023Ser) | |
| 5 | g.37016088T>G | CA359482462 | NIPBL | c.4694T>G (p.Phe1565Cys) c.1-48490T>G (n.1-48490T>G) c.3950T>G (p.Phe1317Cys) c.4496T>G (p.Phe1499Cys) c.4313T>G (p.Phe1438Cys) c.4034T>G (p.Phe1345Cys) c.3077T>G (p.Phe1026Cys) c.3068T>G (p.Phe1023Cys) | |
| 5 | g.37016089T>A | CA359482494 | NIPBL | c.4695T>A (p.Phe1565Leu) c.1-48489T>A (n.1-48489T>A) c.3951T>A (p.Phe1317Leu) c.4497T>A (p.Phe1499Leu) c.4314T>A (p.Phe1438Leu) c.4035T>A (p.Phe1345Leu) c.3078T>A (p.Phe1026Leu) c.3069T>A (p.Phe1023Leu) | |
| 5 | g.37016089T>C | CA443904450 | NIPBL | c.4695T>C (p.Phe1565=) c.1-48489T>C (n.1-48489T>C) c.3951T>C (p.Phe1317=) c.4497T>C (p.Phe1499=) c.4314T>C (p.Phe1438=) c.4035T>C (p.Phe1345=) c.3078T>C (p.Phe1026=) c.3069T>C (p.Phe1023=) | gnomAD v4 |
| 5 | g.37016089T>G | CA359482502 | NIPBL | c.4695T>G (p.Phe1565Leu) c.1-48489T>G (n.1-48489T>G) c.3951T>G (p.Phe1317Leu) c.4497T>G (p.Phe1499Leu) c.4314T>G (p.Phe1438Leu) c.4035T>G (p.Phe1345Leu) c.3078T>G (p.Phe1026Leu) c.3069T>G (p.Phe1023Leu) | |
| 5 | g.37016090G>A | CA359482505 | NIPBL | c.4696G>A (p.Val1566Ile) c.1-48488G>A (n.1-48488G>A) c.3952G>A (p.Val1318Ile) c.4498G>A (p.Val1500Ile) c.4315G>A (p.Val1439Ile) c.4036G>A (p.Val1346Ile) c.3079G>A (p.Val1027Ile) c.3070G>A (p.Val1024Ile) | dbSNP |
| 5 | g.37016090G>C | CA359482509 | NIPBL | c.4696G>C (p.Val1566Leu) c.1-48488G>C (n.1-48488G>C) c.3952G>C (p.Val1318Leu) c.4498G>C (p.Val1500Leu) c.4315G>C (p.Val1439Leu) c.4036G>C (p.Val1346Leu) c.3079G>C (p.Val1027Leu) c.3070G>C (p.Val1024Leu) | |
| 5 | g.37016090G= | CA1539615693 | NIPBL | c.4696G= (p.Val1566=) c.1-48488G= (n.1-48488G=) c.3952G= (p.Val1318=) c.4498G= (p.Val1500=) c.4315G= (p.Val1439=) c.4036G= (p.Val1346=) c.3079G= (p.Val1027=) c.3070G= (p.Val1024=) | |
| 5 | g.37016090G>T | CA359482510 | NIPBL | c.4696G>T (p.Val1566Phe) c.1-48488G>T (n.1-48488G>T) c.3952G>T (p.Val1318Phe) c.4498G>T (p.Val1500Phe) c.4315G>T (p.Val1439Phe) c.4036G>T (p.Val1346Phe) c.3079G>T (p.Val1027Phe) c.3070G>T (p.Val1024Phe) | |
| 5 | g.37016091T>A | CA359482512 | NIPBL | c.4697T>A (p.Val1566Asp) c.1-48487T>A (n.1-48487T>A) c.3953T>A (p.Val1318Asp) c.4499T>A (p.Val1500Asp) c.4316T>A (p.Val1439Asp) c.4037T>A (p.Val1346Asp) c.3080T>A (p.Val1027Asp) c.3071T>A (p.Val1024Asp) | |
| 5 | g.37016091T>C | CA359482515 | NIPBL | c.4697T>C (p.Val1566Ala) c.1-48487T>C (n.1-48487T>C) c.3953T>C (p.Val1318Ala) c.4499T>C (p.Val1500Ala) c.4316T>C (p.Val1439Ala) c.4037T>C (p.Val1346Ala) c.3080T>C (p.Val1027Ala) c.3071T>C (p.Val1024Ala) | |
| 5 | g.37016091T>G | CA359482516 | NIPBL | c.4697T>G (p.Val1566Gly) c.1-48487T>G (n.1-48487T>G) c.3953T>G (p.Val1318Gly) c.4499T>G (p.Val1500Gly) c.4316T>G (p.Val1439Gly) c.4037T>G (p.Val1346Gly) c.3080T>G (p.Val1027Gly) c.3071T>G (p.Val1024Gly) | |
| 5 | g.37016092T>A | CA443904451 | NIPBL | c.4698T>A (p.Val1566=) c.1-48486T>A (n.1-48486T>A) c.3954T>A (p.Val1318=) c.4500T>A (p.Val1500=) c.4317T>A (p.Val1439=) c.4038T>A (p.Val1346=) c.3081T>A (p.Val1027=) c.3072T>A (p.Val1024=) | |
| 5 | g.37016092T>C | CA443904452 | NIPBL | c.4698T>C (p.Val1566=) c.1-48486T>C (n.1-48486T>C) c.3954T>C (p.Val1318=) c.4500T>C (p.Val1500=) c.4317T>C (p.Val1439=) c.4038T>C (p.Val1346=) c.3081T>C (p.Val1027=) c.3072T>C (p.Val1024=) | |
| 5 | g.37016092T>G | CA443904453 | NIPBL | c.4698T>G (p.Val1566=) c.1-48486T>G (n.1-48486T>G) c.3954T>G (p.Val1318=) c.4500T>G (p.Val1500=) c.4317T>G (p.Val1439=) c.4038T>G (p.Val1346=) c.3081T>G (p.Val1027=) c.3072T>G (p.Val1024=) | |
| 5 | g.37016093C>A | CA3236615 | NIPBL | c.4699C>A (p.Gln1567Lys) c.1-48485C>A (n.1-48485C>A) c.3955C>A (p.Gln1319Lys) c.4501C>A (p.Gln1501Lys) c.4318C>A (p.Gln1440Lys) c.4039C>A (p.Gln1347Lys) c.3082C>A (p.Gln1028Lys) c.3073C>A (p.Gln1025Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37016093C= | CA1539615698 | NIPBL | c.4699C= (p.Gln1567=) c.1-48485C= (n.1-48485C=) c.3955C= (p.Gln1319=) c.4501C= (p.Gln1501=) c.4318C= (p.Gln1440=) c.4039C= (p.Gln1347=) c.3082C= (p.Gln1028=) c.3073C= (p.Gln1025=) | |
| 5 | g.37016093C>G | CA359482517 | NIPBL | c.4699C>G (p.Gln1567Glu) c.1-48485C>G (n.1-48485C>G) c.3955C>G (p.Gln1319Glu) c.4501C>G (p.Gln1501Glu) c.4318C>G (p.Gln1440Glu) c.4039C>G (p.Gln1347Glu) c.3082C>G (p.Gln1028Glu) c.3073C>G (p.Gln1025Glu) | |
| 5 | g.37016093C>T | CA359482518 | NIPBL | c.4699C>T (p.Gln1567Ter) c.1-48485C>T (n.1-48485C>T) c.3955C>T (p.Gln1319Ter) c.4501C>T (p.Gln1501Ter) c.4318C>T (p.Gln1440Ter) c.4039C>T (p.Gln1347Ter) c.3082C>T (p.Gln1028Ter) c.3073C>T (p.Gln1025Ter) | ClinVar |
| 5 | g.37016094A= | CA1539615705 | NIPBL | c.4700A= (p.Gln1567=) c.1-48484A= (n.1-48484A=) c.3956A= (p.Gln1319=) c.4502A= (p.Gln1501=) c.4319A= (p.Gln1440=) c.4040A= (p.Gln1347=) c.3083A= (p.Gln1028=) c.3074A= (p.Gln1025=) | |
| 5 | g.37016094A>C | CA359482526 | NIPBL | c.4700A>C (p.Gln1567Pro) c.1-48484A>C (n.1-48484A>C) c.3956A>C (p.Gln1319Pro) c.4502A>C (p.Gln1501Pro) c.4319A>C (p.Gln1440Pro) c.4040A>C (p.Gln1347Pro) c.3083A>C (p.Gln1028Pro) c.3074A>C (p.Gln1025Pro) | |
| 5 | g.37016094A>G | CA359482524 | NIPBL | c.4700A>G (p.Gln1567Arg) c.1-48484A>G (n.1-48484A>G) c.3956A>G (p.Gln1319Arg) c.4502A>G (p.Gln1501Arg) c.4319A>G (p.Gln1440Arg) c.4040A>G (p.Gln1347Arg) c.3083A>G (p.Gln1028Arg) c.3074A>G (p.Gln1025Arg) | dbSNP gnomAD v4 |
| 5 | g.37016094A>T | CA359482523 | NIPBL | c.4700A>T (p.Gln1567Leu) c.1-48484A>T (n.1-48484A>T) c.3956A>T (p.Gln1319Leu) c.4502A>T (p.Gln1501Leu) c.4319A>T (p.Gln1440Leu) c.4040A>T (p.Gln1347Leu) c.3083A>T (p.Gln1028Leu) c.3074A>T (p.Gln1025Leu) | |
| 5 | g.37016095A>C | CA359482528 | NIPBL | c.4701A>C (p.Gln1567His) c.1-48483A>C (n.1-48483A>C) c.3957A>C (p.Gln1319His) c.4503A>C (p.Gln1501His) c.4320A>C (p.Gln1440His) c.4041A>C (p.Gln1347His) c.3084A>C (p.Gln1028His) c.3075A>C (p.Gln1025His) | |
| 5 | g.37016095A>G | CA443904454 | NIPBL | c.4701A>G (p.Gln1567=) c.1-48483A>G (n.1-48483A>G) c.3957A>G (p.Gln1319=) c.4503A>G (p.Gln1501=) c.4320A>G (p.Gln1440=) c.4041A>G (p.Gln1347=) c.3084A>G (p.Gln1028=) c.3075A>G (p.Gln1025=) | |
| 5 | g.37016095A>T | CA359482532 | NIPBL | c.4701A>T (p.Gln1567His) c.1-48483A>T (n.1-48483A>T) c.3957A>T (p.Gln1319His) c.4503A>T (p.Gln1501His) c.4320A>T (p.Gln1440His) c.4041A>T (p.Gln1347His) c.3084A>T (p.Gln1028His) c.3075A>T (p.Gln1025His) | |
| 5 | g.37016096G>A | CA359482538 | NIPBL | c.4702G>A (p.Asp1568Asn) c.1-48482G>A (n.1-48482G>A) c.3958G>A (p.Asp1320Asn) c.4504G>A (p.Asp1502Asn) c.4321G>A (p.Asp1441Asn) c.4042G>A (p.Asp1348Asn) c.3085G>A (p.Asp1029Asn) c.3076G>A (p.Asp1026Asn) | |
| 5 | g.37016096G>C | CA359482540 | NIPBL | c.4702G>C (p.Asp1568His) c.1-48482G>C (n.1-48482G>C) c.3958G>C (p.Asp1320His) c.4504G>C (p.Asp1502His) c.4321G>C (p.Asp1441His) c.4042G>C (p.Asp1348His) c.3085G>C (p.Asp1029His) c.3076G>C (p.Asp1026His) | |
| 5 | g.37016096G>T | CA359482544 | NIPBL | c.4702G>T (p.Asp1568Tyr) c.1-48482G>T (n.1-48482G>T) c.3958G>T (p.Asp1320Tyr) c.4504G>T (p.Asp1502Tyr) c.4321G>T (p.Asp1441Tyr) c.4042G>T (p.Asp1348Tyr) c.3085G>T (p.Asp1029Tyr) c.3076G>T (p.Asp1026Tyr) | |
| 5 | g.37016097A>C | CA359482546 | NIPBL | c.4703A>C (p.Asp1568Ala) c.1-48481A>C (n.1-48481A>C) c.3959A>C (p.Asp1320Ala) c.4505A>C (p.Asp1502Ala) c.4322A>C (p.Asp1441Ala) c.4043A>C (p.Asp1348Ala) c.3086A>C (p.Asp1029Ala) c.3077A>C (p.Asp1026Ala) | |
| 5 | g.37016097A>G | CA359482548 | NIPBL | c.4703A>G (p.Asp1568Gly) c.1-48481A>G (n.1-48481A>G) c.3959A>G (p.Asp1320Gly) c.4505A>G (p.Asp1502Gly) c.4322A>G (p.Asp1441Gly) c.4043A>G (p.Asp1348Gly) c.3086A>G (p.Asp1029Gly) c.3077A>G (p.Asp1026Gly) | |
| 5 | g.37016097A>T | CA359482551 | NIPBL | c.4703A>T (p.Asp1568Val) c.1-48481A>T (n.1-48481A>T) c.3959A>T (p.Asp1320Val) c.4505A>T (p.Asp1502Val) c.4322A>T (p.Asp1441Val) c.4043A>T (p.Asp1348Val) c.3086A>T (p.Asp1029Val) c.3077A>T (p.Asp1026Val) | |
| 5 | g.37016098C>A | CA359482559 | NIPBL | c.4704C>A (p.Asp1568Glu) c.1-48480C>A (n.1-48480C>A) c.3960C>A (p.Asp1320Glu) c.4506C>A (p.Asp1502Glu) c.4323C>A (p.Asp1441Glu) c.4044C>A (p.Asp1348Glu) c.3087C>A (p.Asp1029Glu) c.3078C>A (p.Asp1026Glu) | |
| 5 | g.37016098C>G | CA359482556 | NIPBL | c.4704C>G (p.Asp1568Glu) c.1-48480C>G (n.1-48480C>G) c.3960C>G (p.Asp1320Glu) c.4506C>G (p.Asp1502Glu) c.4323C>G (p.Asp1441Glu) c.4044C>G (p.Asp1348Glu) c.3087C>G (p.Asp1029Glu) c.3078C>G (p.Asp1026Glu) | |
| 5 | g.37016098C>T | CA443904455 | NIPBL | c.4704C>T (p.Asp1568=) c.1-48480C>T (n.1-48480C>T) c.3960C>T (p.Asp1320=) c.4506C>T (p.Asp1502=) c.4323C>T (p.Asp1441=) c.4044C>T (p.Asp1348=) c.3087C>T (p.Asp1029=) c.3078C>T (p.Asp1026=) | gnomAD v4 COSMIC COSMIC |
| 5 | g.37016099C>A | CA359482562 | NIPBL | c.4705C>A (p.Leu1569Ile) c.1-48479C>A (n.1-48479C>A) c.3961C>A (p.Leu1321Ile) c.4507C>A (p.Leu1503Ile) c.4324C>A (p.Leu1442Ile) c.4045C>A (p.Leu1349Ile) c.3088C>A (p.Leu1030Ile) c.3079C>A (p.Leu1027Ile) | |
| 5 | g.37016099C>G | CA359482564 | NIPBL | c.4705C>G (p.Leu1569Val) c.1-48479C>G (n.1-48479C>G) c.3961C>G (p.Leu1321Val) c.4507C>G (p.Leu1503Val) c.4324C>G (p.Leu1442Val) c.4045C>G (p.Leu1349Val) c.3088C>G (p.Leu1030Val) c.3079C>G (p.Leu1027Val) | |
| 5 | g.37016099C>T | CA359482567 | NIPBL | c.4705C>T (p.Leu1569Phe) c.1-48479C>T (n.1-48479C>T) c.3961C>T (p.Leu1321Phe) c.4507C>T (p.Leu1503Phe) c.4324C>T (p.Leu1442Phe) c.4045C>T (p.Leu1349Phe) c.3088C>T (p.Leu1030Phe) c.3079C>T (p.Leu1027Phe) | |
| 5 | g.37016100T>A | CA359482570 | NIPBL | c.4706T>A (p.Leu1569His) c.1-48478T>A (n.1-48478T>A) c.3962T>A (p.Leu1321His) c.4508T>A (p.Leu1503His) c.4325T>A (p.Leu1442His) c.4046T>A (p.Leu1349His) c.3089T>A (p.Leu1030His) c.3080T>A (p.Leu1027His) | |
| 5 | g.37016100T>C | CA359482575 | NIPBL | c.4706T>C (p.Leu1569Pro) c.1-48478T>C (n.1-48478T>C) c.3962T>C (p.Leu1321Pro) c.4508T>C (p.Leu1503Pro) c.4325T>C (p.Leu1442Pro) c.4046T>C (p.Leu1349Pro) c.3089T>C (p.Leu1030Pro) c.3080T>C (p.Leu1027Pro) | |
| 5 | g.37016100T>G | CA359482578 | NIPBL | c.4706T>G (p.Leu1569Arg) c.1-48478T>G (n.1-48478T>G) c.3962T>G (p.Leu1321Arg) c.4508T>G (p.Leu1503Arg) c.4325T>G (p.Leu1442Arg) c.4046T>G (p.Leu1349Arg) c.3089T>G (p.Leu1030Arg) c.3080T>G (p.Leu1027Arg) | |
| 5 | g.37016101T>A | CA443904456 | NIPBL | c.4707T>A (p.Leu1569=) c.1-48477T>A (n.1-48477T>A) c.3963T>A (p.Leu1321=) c.4509T>A (p.Leu1503=) c.4326T>A (p.Leu1442=) c.4047T>A (p.Leu1349=) c.3090T>A (p.Leu1030=) c.3081T>A (p.Leu1027=) | |
| 5 | g.37016101T>C | CA443904457 | NIPBL | c.4707T>C (p.Leu1569=) c.1-48477T>C (n.1-48477T>C) c.3963T>C (p.Leu1321=) c.4509T>C (p.Leu1503=) c.4326T>C (p.Leu1442=) c.4047T>C (p.Leu1349=) c.3090T>C (p.Leu1030=) c.3081T>C (p.Leu1027=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37016101T>G | CA443904458 | NIPBL | c.4707T>G (p.Leu1569=) c.1-48477T>G (n.1-48477T>G) c.3963T>G (p.Leu1321=) c.4509T>G (p.Leu1503=) c.4326T>G (p.Leu1442=) c.4047T>G (p.Leu1349=) c.3090T>G (p.Leu1030=) c.3081T>G (p.Leu1027=) | |
| 5 | g.37016101T= | CA1539615709 | NIPBL | c.4707T= (p.Leu1569=) c.1-48477T= (n.1-48477T=) c.3963T= (p.Leu1321=) c.4509T= (p.Leu1503=) c.4326T= (p.Leu1442=) c.4047T= (p.Leu1349=) c.3090T= (p.Leu1030=) c.3081T= (p.Leu1027=) | |
| 5 | g.37016102C>A | CA359482593 | NIPBL | c.4708C>A (p.Leu1570Ile) c.1-48476C>A (n.1-48476C>A) c.3964C>A (p.Leu1322Ile) c.4510C>A (p.Leu1504Ile) c.4327C>A (p.Leu1443Ile) c.4048C>A (p.Leu1350Ile) c.3091C>A (p.Leu1031Ile) c.3082C>A (p.Leu1028Ile) | |
| 5 | g.37016102C>G | CA359482588 | NIPBL | c.4708C>G (p.Leu1570Val) c.1-48476C>G (n.1-48476C>G) c.3964C>G (p.Leu1322Val) c.4510C>G (p.Leu1504Val) c.4327C>G (p.Leu1443Val) c.4048C>G (p.Leu1350Val) c.3091C>G (p.Leu1031Val) c.3082C>G (p.Leu1028Val) | |
| 5 | g.37016102C>T | CA359482591 | NIPBL | c.4708C>T (p.Leu1570Phe) c.1-48476C>T (n.1-48476C>T) c.3964C>T (p.Leu1322Phe) c.4510C>T (p.Leu1504Phe) c.4327C>T (p.Leu1443Phe) c.4048C>T (p.Leu1350Phe) c.3091C>T (p.Leu1031Phe) c.3082C>T (p.Leu1028Phe) | |
| 5 | g.37016103T>A | CA359482602 | NIPBL | c.4709T>A (p.Leu1570His) c.1-48475T>A (n.1-48475T>A) c.3965T>A (p.Leu1322His) c.4511T>A (p.Leu1504His) c.4328T>A (p.Leu1443His) c.4049T>A (p.Leu1350His) c.3092T>A (p.Leu1031His) c.3083T>A (p.Leu1028His) | |
| 5 | g.37016103T>C | CA359482604 | NIPBL | c.4709T>C (p.Leu1570Pro) c.1-48475T>C (n.1-48475T>C) c.3965T>C (p.Leu1322Pro) c.4511T>C (p.Leu1504Pro) c.4328T>C (p.Leu1443Pro) c.4049T>C (p.Leu1350Pro) c.3092T>C (p.Leu1031Pro) c.3083T>C (p.Leu1028Pro) | |
| 5 | g.37016103T>G | CA359482613 | NIPBL | c.4709T>G (p.Leu1570Arg) c.1-48475T>G (n.1-48475T>G) c.3965T>G (p.Leu1322Arg) c.4511T>G (p.Leu1504Arg) c.4328T>G (p.Leu1443Arg) c.4049T>G (p.Leu1350Arg) c.3092T>G (p.Leu1031Arg) c.3083T>G (p.Leu1028Arg) | ClinVar |
| 5 | g.37016104T>A | CA443904459 | NIPBL | c.4710T>A (p.Leu1570=) c.1-48474T>A (n.1-48474T>A) c.3966T>A (p.Leu1322=) c.4512T>A (p.Leu1504=) c.4329T>A (p.Leu1443=) c.4050T>A (p.Leu1350=) c.3093T>A (p.Leu1031=) c.3084T>A (p.Leu1028=) | |
| 5 | g.37016104T>C | CA443904460 | NIPBL | c.4710T>C (p.Leu1570=) c.1-48474T>C (n.1-48474T>C) c.3966T>C (p.Leu1322=) c.4512T>C (p.Leu1504=) c.4329T>C (p.Leu1443=) c.4050T>C (p.Leu1350=) c.3093T>C (p.Leu1031=) c.3084T>C (p.Leu1028=) | |
| 5 | g.37016104T>G | CA443904461 | NIPBL | c.4710T>G (p.Leu1570=) c.1-48474T>G (n.1-48474T>G) c.3966T>G (p.Leu1322=) c.4512T>G (p.Leu1504=) c.4329T>G (p.Leu1443=) c.4050T>G (p.Leu1350=) c.3093T>G (p.Leu1031=) c.3084T>G (p.Leu1028=) | gnomAD v4 |
| 5 | g.37016105T>A | CA359482616 | NIPBL | c.4711T>A (p.Ser1571Thr) c.1-48473T>A (n.1-48473T>A) c.3967T>A (p.Ser1323Thr) c.4513T>A (p.Ser1505Thr) c.4330T>A (p.Ser1444Thr) c.4051T>A (p.Ser1351Thr) c.3094T>A (p.Ser1032Thr) c.3085T>A (p.Ser1029Thr) | |
| 5 | g.37016105T>C | CA359482638 | NIPBL | c.4711T>C (p.Ser1571Pro) c.1-48473T>C (n.1-48473T>C) c.3967T>C (p.Ser1323Pro) c.4513T>C (p.Ser1505Pro) c.4330T>C (p.Ser1444Pro) c.4051T>C (p.Ser1351Pro) c.3094T>C (p.Ser1032Pro) c.3085T>C (p.Ser1029Pro) | |
| 5 | g.37016105T>G | CA359482642 | NIPBL | c.4711T>G (p.Ser1571Ala) c.1-48473T>G (n.1-48473T>G) c.3967T>G (p.Ser1323Ala) c.4513T>G (p.Ser1505Ala) c.4330T>G (p.Ser1444Ala) c.4051T>G (p.Ser1351Ala) c.3094T>G (p.Ser1032Ala) c.3085T>G (p.Ser1029Ala) | |
| 5 | g.37016106C>A | CA272124 | NIPBL | c.4712C>A (p.Ser1571Ter) c.1-48472C>A (n.1-48472C>A) c.3968C>A (p.Ser1323Ter) c.4514C>A (p.Ser1505Ter) c.4331C>A (p.Ser1444Ter) c.4052C>A (p.Ser1351Ter) c.3095C>A (p.Ser1032Ter) c.3086C>A (p.Ser1029Ter) | ClinVar dbSNP |
| 5 | g.37016106C= | CA1539615714 | NIPBL | c.4712C= (p.Ser1571=) c.1-48472C= (n.1-48472C=) c.3968C= (p.Ser1323=) c.4514C= (p.Ser1505=) c.4331C= (p.Ser1444=) c.4052C= (p.Ser1351=) c.3095C= (p.Ser1032=) c.3086C= (p.Ser1029=) | |
| 5 | g.37016106C>G | CA359482648 | NIPBL | c.4712C>G (p.Ser1571Ter) c.1-48472C>G (n.1-48472C>G) c.3968C>G (p.Ser1323Ter) c.4514C>G (p.Ser1505Ter) c.4331C>G (p.Ser1444Ter) c.4052C>G (p.Ser1351Ter) c.3095C>G (p.Ser1032Ter) c.3086C>G (p.Ser1029Ter) | |
| 5 | g.37016106C>T | CA117025923 | NIPBL | c.4712C>T (p.Ser1571Leu) c.1-48472C>T (n.1-48472C>T) c.3968C>T (p.Ser1323Leu) c.4514C>T (p.Ser1505Leu) c.4331C>T (p.Ser1444Leu) c.4052C>T (p.Ser1351Leu) c.3095C>T (p.Ser1032Leu) c.3086C>T (p.Ser1029Leu) | dbSNP |
| 5 | g.37016107A= | CA1539615717 | NIPBL | c.4713A= (p.Ser1571=) c.1-48471A= (n.1-48471A=) c.3969A= (p.Ser1323=) c.4515A= (p.Ser1505=) c.4332A= (p.Ser1444=) c.4053A= (p.Ser1351=) c.3096A= (p.Ser1032=) c.3087A= (p.Ser1029=) | |
| 5 | g.37016107A>C | CA443904463 | NIPBL | c.4713A>C (p.Ser1571=) c.1-48471A>C (n.1-48471A>C) c.3969A>C (p.Ser1323=) c.4515A>C (p.Ser1505=) c.4332A>C (p.Ser1444=) c.4053A>C (p.Ser1351=) c.3096A>C (p.Ser1032=) c.3087A>C (p.Ser1029=) | |
| 5 | g.37016107A>G | CA3236616 | NIPBL | c.4713A>G (p.Ser1571=) c.1-48471A>G (n.1-48471A>G) c.3969A>G (p.Ser1323=) c.4515A>G (p.Ser1505=) c.4332A>G (p.Ser1444=) c.4053A>G (p.Ser1351=) c.3096A>G (p.Ser1032=) c.3087A>G (p.Ser1029=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37016107A>T | CA443904462 | NIPBL | c.4713A>T (p.Ser1571=) c.1-48471A>T (n.1-48471A>T) c.3969A>T (p.Ser1323=) c.4515A>T (p.Ser1505=) c.4332A>T (p.Ser1444=) c.4053A>T (p.Ser1351=) c.3096A>T (p.Ser1032=) c.3087A>T (p.Ser1029=) | |
| 5 | g.37016108A= | CA1539615721 | NIPBL | c.4714A= (p.Thr1572=) c.1-48470A= (n.1-48470A=) c.3970A= (p.Thr1324=) c.4516A= (p.Thr1506=) c.4333A= (p.Thr1445=) c.4054A= (p.Thr1352=) c.3097A= (p.Thr1033=) c.3088A= (p.Thr1030=) | |
| 5 | g.37016108A>C | CA359482653 | NIPBL | c.4714A>C (p.Thr1572Pro) c.1-48470A>C (n.1-48470A>C) c.3970A>C (p.Thr1324Pro) c.4516A>C (p.Thr1506Pro) c.4333A>C (p.Thr1445Pro) c.4054A>C (p.Thr1352Pro) c.3097A>C (p.Thr1033Pro) c.3088A>C (p.Thr1030Pro) | |
| 5 | g.37016108A>G | CA117025924 | NIPBL | c.4714A>G (p.Thr1572Ala) c.1-48470A>G (n.1-48470A>G) c.3970A>G (p.Thr1324Ala) c.4516A>G (p.Thr1506Ala) c.4333A>G (p.Thr1445Ala) c.4054A>G (p.Thr1352Ala) c.3097A>G (p.Thr1033Ala) c.3088A>G (p.Thr1030Ala) | ClinVar dbSNP gnomAD v2 |
| 5 | g.37016108A>T | CA359482655 | NIPBL | c.4714A>T (p.Thr1572Ser) c.1-48470A>T (n.1-48470A>T) c.3970A>T (p.Thr1324Ser) c.4516A>T (p.Thr1506Ser) c.4333A>T (p.Thr1445Ser) c.4054A>T (p.Thr1352Ser) c.3097A>T (p.Thr1033Ser) c.3088A>T (p.Thr1030Ser) | |
| 5 | g.37016109C>A | CA359482659 | NIPBL | c.4715C>A (p.Thr1572Lys) c.1-48469C>A (n.1-48469C>A) c.3971C>A (p.Thr1324Lys) c.4517C>A (p.Thr1506Lys) c.4334C>A (p.Thr1445Lys) c.4055C>A (p.Thr1352Lys) c.3098C>A (p.Thr1033Lys) c.3089C>A (p.Thr1030Lys) | |
| 5 | g.37016109C>G | CA359482663 | NIPBL | c.4715C>G (p.Thr1572Arg) c.1-48469C>G (n.1-48469C>G) c.3971C>G (p.Thr1324Arg) c.4517C>G (p.Thr1506Arg) c.4334C>G (p.Thr1445Arg) c.4055C>G (p.Thr1352Arg) c.3098C>G (p.Thr1033Arg) c.3089C>G (p.Thr1030Arg) | |
| 5 | g.37016109C>T | CA359482661 | NIPBL | c.4715C>T (p.Thr1572Ile) c.1-48469C>T (n.1-48469C>T) c.3971C>T (p.Thr1324Ile) c.4517C>T (p.Thr1506Ile) c.4334C>T (p.Thr1445Ile) c.4055C>T (p.Thr1352Ile) c.3098C>T (p.Thr1033Ile) c.3089C>T (p.Thr1030Ile) | gnomAD v4 |
| 5 | g.37016110A>C | CA443904464 | NIPBL | c.4716A>C (p.Thr1572=) c.1-48468A>C (n.1-48468A>C) c.3972A>C (p.Thr1324=) c.4518A>C (p.Thr1506=) c.4335A>C (p.Thr1445=) c.4056A>C (p.Thr1352=) c.3099A>C (p.Thr1033=) c.3090A>C (p.Thr1030=) | |
| 5 | g.37016110A>G | CA443904465 | NIPBL | c.4716A>G (p.Thr1572=) c.1-48468A>G (n.1-48468A>G) c.3972A>G (p.Thr1324=) c.4518A>G (p.Thr1506=) c.4335A>G (p.Thr1445=) c.4056A>G (p.Thr1352=) c.3099A>G (p.Thr1033=) c.3090A>G (p.Thr1030=) | |
| 5 | g.37016110A>T | CA443904466 | NIPBL | c.4716A>T (p.Thr1572=) c.1-48468A>T (n.1-48468A>T) c.3972A>T (p.Thr1324=) c.4518A>T (p.Thr1506=) c.4335A>T (p.Thr1445=) c.4056A>T (p.Thr1352=) c.3099A>T (p.Thr1033=) c.3090A>T (p.Thr1030=) | gnomAD v4 |
| 5 | g.37016111G>A | CA359482667 | NIPBL | c.4717G>A (p.Val1573Ile) c.1-48467G>A (n.1-48467G>A) c.3973G>A (p.Val1325Ile) c.4519G>A (p.Val1507Ile) c.4336G>A (p.Val1446Ile) c.4057G>A (p.Val1353Ile) c.3100G>A (p.Val1034Ile) c.3091G>A (p.Val1031Ile) | |
| 5 | g.37016111G>C | CA359482674 | NIPBL | c.4717G>C (p.Val1573Leu) c.1-48467G>C (n.1-48467G>C) c.3973G>C (p.Val1325Leu) c.4519G>C (p.Val1507Leu) c.4336G>C (p.Val1446Leu) c.4057G>C (p.Val1353Leu) c.3100G>C (p.Val1034Leu) c.3091G>C (p.Val1031Leu) | |
| 5 | g.37016111G>T | CA359482677 | NIPBL | c.4717G>T (p.Val1573Phe) c.1-48467G>T (n.1-48467G>T) c.3973G>T (p.Val1325Phe) c.4519G>T (p.Val1507Phe) c.4336G>T (p.Val1446Phe) c.4057G>T (p.Val1353Phe) c.3100G>T (p.Val1034Phe) c.3091G>T (p.Val1031Phe) | |
| 5 | g.37016112T>A | CA359482680 | NIPBL | c.4718T>A (p.Val1573Asp) c.1-48466T>A (n.1-48466T>A) c.3974T>A (p.Val1325Asp) c.4520T>A (p.Val1507Asp) c.4337T>A (p.Val1446Asp) c.4058T>A (p.Val1353Asp) c.3101T>A (p.Val1034Asp) c.3092T>A (p.Val1031Asp) | |
| 5 | g.37016112T>C | CA359482684 | NIPBL | c.4718T>C (p.Val1573Ala) c.1-48466T>C (n.1-48466T>C) c.3974T>C (p.Val1325Ala) c.4520T>C (p.Val1507Ala) c.4337T>C (p.Val1446Ala) c.4058T>C (p.Val1353Ala) c.3101T>C (p.Val1034Ala) c.3092T>C (p.Val1031Ala) | dbSNP |
| 5 | g.37016112T>G | CA359482686 | NIPBL | c.4718T>G (p.Val1573Gly) c.1-48466T>G (n.1-48466T>G) c.3974T>G (p.Val1325Gly) c.4520T>G (p.Val1507Gly) c.4337T>G (p.Val1446Gly) c.4058T>G (p.Val1353Gly) c.3101T>G (p.Val1034Gly) c.3092T>G (p.Val1031Gly) | |
| 5 | g.37016113C>A | CA443904467 | NIPBL | c.4719C>A (p.Val1573=) c.1-48465C>A (n.1-48465C>A) c.3975C>A (p.Val1325=) c.4521C>A (p.Val1507=) c.4338C>A (p.Val1446=) c.4059C>A (p.Val1353=) c.3102C>A (p.Val1034=) c.3093C>A (p.Val1031=) | |
| 5 | g.37016113C= | CA1539615726 | NIPBL | c.4719C= (p.Val1573=) c.1-48465C= (n.1-48465C=) c.3975C= (p.Val1325=) c.4521C= (p.Val1507=) c.4338C= (p.Val1446=) c.4059C= (p.Val1353=) c.3102C= (p.Val1034=) c.3093C= (p.Val1031=) | |
| 5 | g.37016113C>G | CA117025925 | NIPBL | c.4719C>G (p.Val1573=) c.1-48465C>G (n.1-48465C>G) c.3975C>G (p.Val1325=) c.4521C>G (p.Val1507=) c.4338C>G (p.Val1446=) c.4059C>G (p.Val1353=) c.3102C>G (p.Val1034=) c.3093C>G (p.Val1031=) | dbSNP gnomAD v4 |
| 5 | g.37016113C>T | CA443904468 | NIPBL | c.4719C>T (p.Val1573=) c.1-48465C>T (n.1-48465C>T) c.3975C>T (p.Val1325=) c.4521C>T (p.Val1507=) c.4338C>T (p.Val1446=) c.4059C>T (p.Val1353=) c.3102C>T (p.Val1034=) c.3093C>T (p.Val1031=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37016114A>C | CA359482689 | NIPBL | c.4720A>C (p.Asn1574His) c.1-48464A>C (n.1-48464A>C) c.3976A>C (p.Asn1326His) c.4522A>C (p.Asn1508His) c.4339A>C (p.Asn1447His) c.4060A>C (p.Asn1354His) c.3103A>C (p.Asn1035His) c.3094A>C (p.Asn1032His) | |
| 5 | g.37016114A>G | CA359482693 | NIPBL | c.4720A>G (p.Asn1574Asp) c.1-48464A>G (n.1-48464A>G) c.3976A>G (p.Asn1326Asp) c.4522A>G (p.Asn1508Asp) c.4339A>G (p.Asn1447Asp) c.4060A>G (p.Asn1354Asp) c.3103A>G (p.Asn1035Asp) c.3094A>G (p.Asn1032Asp) | |
| 5 | g.37016114A>T | CA359482696 | NIPBL | c.4720A>T (p.Asn1574Tyr) c.1-48464A>T (n.1-48464A>T) c.3976A>T (p.Asn1326Tyr) c.4522A>T (p.Asn1508Tyr) c.4339A>T (p.Asn1447Tyr) c.4060A>T (p.Asn1354Tyr) c.3103A>T (p.Asn1035Tyr) c.3094A>T (p.Asn1032Tyr) | |
| 5 | g.37016115A= | CA1539615729 | NIPBL | c.4721A= (p.Asn1574=) c.1-48463A= (n.1-48463A=) c.3977A= (p.Asn1326=) c.4523A= (p.Asn1508=) c.4340A= (p.Asn1447=) c.4061A= (p.Asn1354=) c.3104A= (p.Asn1035=) c.3095A= (p.Asn1032=) | |
| 5 | g.37016115A>C | CA359482699 | NIPBL | c.4721A>C (p.Asn1574Thr) c.1-48463A>C (n.1-48463A>C) c.3977A>C (p.Asn1326Thr) c.4523A>C (p.Asn1508Thr) c.4340A>C (p.Asn1447Thr) c.4061A>C (p.Asn1354Thr) c.3104A>C (p.Asn1035Thr) c.3095A>C (p.Asn1032Thr) | |
| 5 | g.37016115A>G | CA359482701 | NIPBL | c.4721A>G (p.Asn1574Ser) c.1-48463A>G (n.1-48463A>G) c.3977A>G (p.Asn1326Ser) c.4523A>G (p.Asn1508Ser) c.4340A>G (p.Asn1447Ser) c.4061A>G (p.Asn1354Ser) c.3104A>G (p.Asn1035Ser) c.3095A>G (p.Asn1032Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37016115A>T | CA359482702 | NIPBL | c.4721A>T (p.Asn1574Ile) c.1-48463A>T (n.1-48463A>T) c.3977A>T (p.Asn1326Ile) c.4523A>T (p.Asn1508Ile) c.4340A>T (p.Asn1447Ile) c.4061A>T (p.Asn1354Ile) c.3104A>T (p.Asn1035Ile) c.3095A>T (p.Asn1032Ile) | |
| 5 | g.37016116T>A | CA359482704 | NIPBL | c.4722T>A (p.Asn1574Lys) c.1-48462T>A (n.1-48462T>A) c.3978T>A (p.Asn1326Lys) c.4524T>A (p.Asn1508Lys) c.4341T>A (p.Asn1447Lys) c.4062T>A (p.Asn1354Lys) c.3105T>A (p.Asn1035Lys) c.3096T>A (p.Asn1032Lys) | |
| 5 | g.37016116T>C | CA443904469 | NIPBL | c.4722T>C (p.Asn1574=) c.1-48462T>C (n.1-48462T>C) c.3978T>C (p.Asn1326=) c.4524T>C (p.Asn1508=) c.4341T>C (p.Asn1447=) c.4062T>C (p.Asn1354=) c.3105T>C (p.Asn1035=) c.3096T>C (p.Asn1032=) | |
| 5 | g.37016116T>G | CA359482703 | NIPBL | c.4722T>G (p.Asn1574Lys) c.1-48462T>G (n.1-48462T>G) c.3978T>G (p.Asn1326Lys) c.4524T>G (p.Asn1508Lys) c.4341T>G (p.Asn1447Lys) c.4062T>G (p.Asn1354Lys) c.3105T>G (p.Asn1035Lys) c.3096T>G (p.Asn1032Lys) | |
| 5 | g.37016117A>C | CA359482705 | NIPBL | c.4723A>C (p.Lys1575Gln) c.1-48461A>C (n.1-48461A>C) c.3979A>C (p.Lys1327Gln) c.4525A>C (p.Lys1509Gln) c.4342A>C (p.Lys1448Gln) c.4063A>C (p.Lys1355Gln) c.3106A>C (p.Lys1036Gln) c.3097A>C (p.Lys1033Gln) | |
| 5 | g.37016117A>G | CA359482707 | NIPBL | c.4723A>G (p.Lys1575Glu) c.1-48461A>G (n.1-48461A>G) c.3979A>G (p.Lys1327Glu) c.4525A>G (p.Lys1509Glu) c.4342A>G (p.Lys1448Glu) c.4063A>G (p.Lys1355Glu) c.3106A>G (p.Lys1036Glu) c.3097A>G (p.Lys1033Glu) | |
| 5 | g.37016117A>T | CA359482710 | NIPBL | c.4723A>T (p.Lys1575Ter) c.1-48461A>T (n.1-48461A>T) c.3979A>T (p.Lys1327Ter) c.4525A>T (p.Lys1509Ter) c.4342A>T (p.Lys1448Ter) c.4063A>T (p.Lys1355Ter) c.3106A>T (p.Lys1036Ter) c.3097A>T (p.Lys1033Ter) | |
| 5 | g.37016118A= | CA1539615732 | NIPBL | c.4724A= (p.Lys1575=) c.1-48460A= (n.1-48460A=) c.3980A= (p.Lys1327=) c.4526A= (p.Lys1509=) c.4343A= (p.Lys1448=) c.4064A= (p.Lys1355=) c.3107A= (p.Lys1036=) c.3098A= (p.Lys1033=) | |
| 5 | g.37016118A>C | CA3236617 | NIPBL | c.4724A>C (p.Lys1575Thr) c.1-48460A>C (n.1-48460A>C) c.3980A>C (p.Lys1327Thr) c.4526A>C (p.Lys1509Thr) c.4343A>C (p.Lys1448Thr) c.4064A>C (p.Lys1355Thr) c.3107A>C (p.Lys1036Thr) c.3098A>C (p.Lys1033Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37016118A>G | CA359482713 | NIPBL | c.4724A>G (p.Lys1575Arg) c.1-48460A>G (n.1-48460A>G) c.3980A>G (p.Lys1327Arg) c.4526A>G (p.Lys1509Arg) c.4343A>G (p.Lys1448Arg) c.4064A>G (p.Lys1355Arg) c.3107A>G (p.Lys1036Arg) c.3098A>G (p.Lys1033Arg) | |
| 5 | g.37016118A>T | CA359482714 | NIPBL | c.4724A>T (p.Lys1575Met) c.1-48460A>T (n.1-48460A>T) c.3980A>T (p.Lys1327Met) c.4526A>T (p.Lys1509Met) c.4343A>T (p.Lys1448Met) c.4064A>T (p.Lys1355Met) c.3107A>T (p.Lys1036Met) c.3098A>T (p.Lys1033Met) | |
| 5 | g.37016119G>A | CA3236618 | NIPBL | c.4725G>A (p.Lys1575=) c.1-48459G>A (n.1-48459G>A) c.3981G>A (p.Lys1327=) c.4527G>A (p.Lys1509=) c.4344G>A (p.Lys1448=) c.4065G>A (p.Lys1355=) c.3108G>A (p.Lys1036=) c.3099G>A (p.Lys1033=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37016119G>C | CA359482723 | NIPBL | c.4725G>C (p.Lys1575Asn) c.1-48459G>C (n.1-48459G>C) c.3981G>C (p.Lys1327Asn) c.4527G>C (p.Lys1509Asn) c.4344G>C (p.Lys1448Asn) c.4065G>C (p.Lys1355Asn) c.3108G>C (p.Lys1036Asn) c.3099G>C (p.Lys1033Asn) | |
| 5 | g.37016119G= | CA1539615735 | NIPBL | c.4725G= (p.Lys1575=) c.1-48459G= (n.1-48459G=) c.3981G= (p.Lys1327=) c.4527G= (p.Lys1509=) c.4344G= (p.Lys1448=) c.4065G= (p.Lys1355=) c.3108G= (p.Lys1036=) c.3099G= (p.Lys1033=) | |
| 5 | g.37016119G>T | CA359482726 | NIPBL | c.4725G>T (p.Lys1575Asn) c.1-48459G>T (n.1-48459G>T) c.3981G>T (p.Lys1327Asn) c.4527G>T (p.Lys1509Asn) c.4344G>T (p.Lys1448Asn) c.4065G>T (p.Lys1355Asn) c.3108G>T (p.Lys1036Asn) c.3099G>T (p.Lys1033Asn) | |
| 5 | g.37016120C>A | CA3236619 | NIPBL | c.4726C>A (p.Pro1576Thr) c.1-48458C>A (n.1-48458C>A) c.3982C>A (p.Pro1328Thr) c.4528C>A (p.Pro1510Thr) c.4345C>A (p.Pro1449Thr) c.4066C>A (p.Pro1356Thr) c.3109C>A (p.Pro1037Thr) c.3100C>A (p.Pro1034Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37016120C= | CA1539615738 | NIPBL | c.4726C= (p.Pro1576=) c.1-48458C= (n.1-48458C=) c.3982C= (p.Pro1328=) c.4528C= (p.Pro1510=) c.4345C= (p.Pro1449=) c.4066C= (p.Pro1356=) c.3109C= (p.Pro1037=) c.3100C= (p.Pro1034=) | |
| 5 | g.37016120C>G | CA359482758 | NIPBL | c.4726C>G (p.Pro1576Ala) c.1-48458C>G (n.1-48458C>G) c.3982C>G (p.Pro1328Ala) c.4528C>G (p.Pro1510Ala) c.4345C>G (p.Pro1449Ala) c.4066C>G (p.Pro1356Ala) c.3109C>G (p.Pro1037Ala) c.3100C>G (p.Pro1034Ala) | |
| 5 | g.37016120C>T | CA359482764 | NIPBL | c.4726C>T (p.Pro1576Ser) c.1-48458C>T (n.1-48458C>T) c.3982C>T (p.Pro1328Ser) c.4528C>T (p.Pro1510Ser) c.4345C>T (p.Pro1449Ser) c.4066C>T (p.Pro1356Ser) c.3109C>T (p.Pro1037Ser) c.3100C>T (p.Pro1034Ser) | |
| 5 | g.37016120_37016121insATTAAGATAATACAGCAATTCAATGAAAATAAATAAAGGAAAGACTATAGTC | CA2540653808 | NIPBL | c.4726_4727insATTAAGATAATACAGCAATTCAATGAAAATAAATAAAGGAAAGACTATAGTC (p.Pro1576HisfsTer2) c.1-48458_1-48457insATTAAGATAATACAGCAATTCAATGAAAATAAATAAAGGAAAGACTATAGTC (n.1-48458_1-48457insATTAAGATAATACAGCAATTCAATGAAAATAAATAAAGGAAAGACTATAGTC) c.3982_3983insATTAAGATAATACAGCAATTCAATGAAAATAAATAAAGGAAAGACTATAGTC (p.Pro1328HisfsTer2) c.4528_4529insATTAAGATAATACAGCAATTCAATGAAAATAAATAAAGGAAAGACTATAGTC (p.Pro1510HisfsTer2) c.4345_4346insATTAAGATAATACAGCAATTCAATGAAAATAAATAAAGGAAAGACTATAGTC (p.Pro1449HisfsTer2) c.4066_4067insATTAAGATAATACAGCAATTCAATGAAAATAAATAAAGGAAAGACTATAGTC (p.Pro1356HisfsTer2) c.3109_3110insATTAAGATAATACAGCAATTCAATGAAAATAAATAAAGGAAAGACTATAGTC (p.Pro1037HisfsTer2) c.3100_3101insATTAAGATAATACAGCAATTCAATGAAAATAAATAAAGGAAAGACTATAGTC (p.Pro1034HisfsTer2) | |
| 5 | g.37016120_37016121insATTAAGATAATACAGCATTTCAATGAAAATAAATAAAGGAAAGACAATAGTC | CA2554409788 | NIPBL | c.4726_4727insATTAAGATAATACAGCATTTCAATGAAAATAAATAAAGGAAAGACAATAGTC (p.Pro1576HisfsTer2) c.1-48458_1-48457insATTAAGATAATACAGCATTTCAATGAAAATAAATAAAGGAAAGACAATAGTC (n.1-48458_1-48457insATTAAGATAATACAGCATTTCAATGAAAATAAATAAAGGAAAGACAATAGTC) c.3982_3983insATTAAGATAATACAGCATTTCAATGAAAATAAATAAAGGAAAGACAATAGTC (p.Pro1328HisfsTer2) c.4528_4529insATTAAGATAATACAGCATTTCAATGAAAATAAATAAAGGAAAGACAATAGTC (p.Pro1510HisfsTer2) c.4345_4346insATTAAGATAATACAGCATTTCAATGAAAATAAATAAAGGAAAGACAATAGTC (p.Pro1449HisfsTer2) c.4066_4067insATTAAGATAATACAGCATTTCAATGAAAATAAATAAAGGAAAGACAATAGTC (p.Pro1356HisfsTer2) c.3109_3110insATTAAGATAATACAGCATTTCAATGAAAATAAATAAAGGAAAGACAATAGTC (p.Pro1037HisfsTer2) c.3100_3101insATTAAGATAATACAGCATTTCAATGAAAATAAATAAAGGAAAGACAATAGTC (p.Pro1034HisfsTer2) | |
| 5 | g.37016121C>A | CA359482767 | NIPBL | c.4727C>A (p.Pro1576His) c.1-48457C>A (n.1-48457C>A) c.3983C>A (p.Pro1328His) c.4529C>A (p.Pro1510His) c.4346C>A (p.Pro1449His) c.4067C>A (p.Pro1356His) c.3110C>A (p.Pro1037His) c.3101C>A (p.Pro1034His) | dbSNP |
| 5 | g.37016121C= | CA1539615741 | NIPBL | c.4727C= (p.Pro1576=) c.1-48457C= (n.1-48457C=) c.3983C= (p.Pro1328=) c.4529C= (p.Pro1510=) c.4346C= (p.Pro1449=) c.4067C= (p.Pro1356=) c.3110C= (p.Pro1037=) c.3101C= (p.Pro1034=) | |
| 5 | g.37016121C>G | CA359482766 | NIPBL | c.4727C>G (p.Pro1576Arg) c.1-48457C>G (n.1-48457C>G) c.3983C>G (p.Pro1328Arg) c.4529C>G (p.Pro1510Arg) c.4346C>G (p.Pro1449Arg) c.4067C>G (p.Pro1356Arg) c.3110C>G (p.Pro1037Arg) c.3101C>G (p.Pro1034Arg) | |
| 5 | g.37016121C>T | CA359482765 | NIPBL | c.4727C>T (p.Pro1576Leu) c.1-48457C>T (n.1-48457C>T) c.3983C>T (p.Pro1328Leu) c.4529C>T (p.Pro1510Leu) c.4346C>T (p.Pro1449Leu) c.4067C>T (p.Pro1356Leu) c.3110C>T (p.Pro1037Leu) c.3101C>T (p.Pro1034Leu) | |
| 5 | g.37016122T>A | CA443904470 | NIPBL | c.4728T>A (p.Pro1576=) c.1-48456T>A (n.1-48456T>A) c.3984T>A (p.Pro1328=) c.4530T>A (p.Pro1510=) c.4347T>A (p.Pro1449=) c.4068T>A (p.Pro1356=) c.3111T>A (p.Pro1037=) c.3102T>A (p.Pro1034=) | |
| 5 | g.37016122T>C | CA443904471 | NIPBL | c.4728T>C (p.Pro1576=) c.1-48456T>C (n.1-48456T>C) c.3984T>C (p.Pro1328=) c.4530T>C (p.Pro1510=) c.4347T>C (p.Pro1449=) c.4068T>C (p.Pro1356=) c.3111T>C (p.Pro1037=) c.3102T>C (p.Pro1034=) | gnomAD v4 |
| 5 | g.37016122T>G | CA443904472 | NIPBL | c.4728T>G (p.Pro1576=) c.1-48456T>G (n.1-48456T>G) c.3984T>G (p.Pro1328=) c.4530T>G (p.Pro1510=) c.4347T>G (p.Pro1449=) c.4068T>G (p.Pro1356=) c.3111T>G (p.Pro1037=) c.3102T>G (p.Pro1034=) | |
| 5 | g.37016123G>A | CA359482769 | NIPBL | c.4729G>A (p.Glu1577Lys) c.1-48455G>A (n.1-48455G>A) c.3985G>A (p.Glu1329Lys) c.4531G>A (p.Glu1511Lys) c.4348G>A (p.Glu1450Lys) c.4069G>A (p.Glu1357Lys) c.3112G>A (p.Glu1038Lys) c.3103G>A (p.Glu1035Lys) | COSMIC COSMIC |
| 5 | g.37016123G>C | CA359482779 | NIPBL | c.4729G>C (p.Glu1577Gln) c.1-48455G>C (n.1-48455G>C) c.3985G>C (p.Glu1329Gln) c.4531G>C (p.Glu1511Gln) c.4348G>C (p.Glu1450Gln) c.4069G>C (p.Glu1357Gln) c.3112G>C (p.Glu1038Gln) c.3103G>C (p.Glu1035Gln) | dbSNP |
| 5 | g.37016123G= | CA1539615745 | NIPBL | c.4729G= (p.Glu1577=) c.1-48455G= (n.1-48455G=) c.3985G= (p.Glu1329=) c.4531G= (p.Glu1511=) c.4348G= (p.Glu1450=) c.4069G= (p.Glu1357=) c.3112G= (p.Glu1038=) c.3103G= (p.Glu1035=) | |
| 5 | g.37016123G>T | CA359482773 | NIPBL | c.4729G>T (p.Glu1577Ter) c.1-48455G>T (n.1-48455G>T) c.3985G>T (p.Glu1329Ter) c.4531G>T (p.Glu1511Ter) c.4348G>T (p.Glu1450Ter) c.4069G>T (p.Glu1357Ter) c.3112G>T (p.Glu1038Ter) c.3103G>T (p.Glu1035Ter) | |
| 5 | g.37016123_37016124insCTTGCAGGAACAGTTCTTACAGC | CA2541890953 | NIPBL | c.4729_4730insCTTGCAGGAACAGTTCTTACAGC (p.Glu1577AlafsTer20) c.1-48455_1-48454insCTTGCAGGAACAGTTCTTACAGC (n.1-48455_1-48454insCTTGCAGGAACAGTTCTTACAGC) c.3985_3986insCTTGCAGGAACAGTTCTTACAGC (p.Glu1329AlafsTer20) c.4531_4532insCTTGCAGGAACAGTTCTTACAGC (p.Glu1511AlafsTer20) c.4348_4349insCTTGCAGGAACAGTTCTTACAGC (p.Glu1450AlafsTer20) c.4069_4070insCTTGCAGGAACAGTTCTTACAGC (p.Glu1357AlafsTer20) c.3112_3113insCTTGCAGGAACAGTTCTTACAGC (p.Glu1038AlafsTer20) c.3103_3104insCTTGCAGGAACAGTTCTTACAGC (p.Glu1035AlafsTer20) | |
| 5 | g.37016124A>C | CA359482782 | NIPBL | c.4730A>C (p.Glu1577Ala) c.1-48454A>C (n.1-48454A>C) c.3986A>C (p.Glu1329Ala) c.4532A>C (p.Glu1511Ala) c.4349A>C (p.Glu1450Ala) c.4070A>C (p.Glu1357Ala) c.3113A>C (p.Glu1038Ala) c.3104A>C (p.Glu1035Ala) | |
| 5 | g.37016124A>G | CA359482793 | NIPBL | c.4730A>G (p.Glu1577Gly) c.1-48454A>G (n.1-48454A>G) c.3986A>G (p.Glu1329Gly) c.4532A>G (p.Glu1511Gly) c.4349A>G (p.Glu1450Gly) c.4070A>G (p.Glu1357Gly) c.3113A>G (p.Glu1038Gly) c.3104A>G (p.Glu1035Gly) | |
| 5 | g.37016124A>T | CA359482796 | NIPBL | c.4730A>T (p.Glu1577Val) c.1-48454A>T (n.1-48454A>T) c.3986A>T (p.Glu1329Val) c.4532A>T (p.Glu1511Val) c.4349A>T (p.Glu1450Val) c.4070A>T (p.Glu1357Val) c.3113A>T (p.Glu1038Val) c.3104A>T (p.Glu1035Val) | |
| 5 | g.37016125A= | CA1539615751 | NIPBL | c.4731A= (p.Glu1577=) c.1-48453A= (n.1-48453A=) c.3987A= (p.Glu1329=) c.4533A= (p.Glu1511=) c.4350A= (p.Glu1450=) c.4071A= (p.Glu1357=) c.3114A= (p.Glu1038=) c.3105A= (p.Glu1035=) | |
| 5 | g.37016125A>C | CA359482800 | NIPBL | c.4731A>C (p.Glu1577Asp) c.1-48453A>C (n.1-48453A>C) c.3987A>C (p.Glu1329Asp) c.4533A>C (p.Glu1511Asp) c.4350A>C (p.Glu1450Asp) c.4071A>C (p.Glu1357Asp) c.3114A>C (p.Glu1038Asp) c.3105A>C (p.Glu1035Asp) | |
| 5 | g.37016125A>G | CA272127 | NIPBL | c.4731A>G (p.Glu1577=) c.1-48453A>G (n.1-48453A>G) c.3987A>G (p.Glu1329=) c.4533A>G (p.Glu1511=) c.4350A>G (p.Glu1450=) c.4071A>G (p.Glu1357=) c.3114A>G (p.Glu1038=) c.3105A>G (p.Glu1035=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37016125A>T | CA359482806 | NIPBL | c.4731A>T (p.Glu1577Asp) c.1-48453A>T (n.1-48453A>T) c.3987A>T (p.Glu1329Asp) c.4533A>T (p.Glu1511Asp) c.4350A>T (p.Glu1450Asp) c.4071A>T (p.Glu1357Asp) c.3114A>T (p.Glu1038Asp) c.3105A>T (p.Glu1035Asp) | |
| 5 | g.37016126T>A | CA359482812 | NIPBL | c.4732T>A (p.Trp1578Arg) c.1-48452T>A (n.1-48452T>A) c.3988T>A (p.Trp1330Arg) c.4534T>A (p.Trp1512Arg) c.4351T>A (p.Trp1451Arg) c.4072T>A (p.Trp1358Arg) c.3115T>A (p.Trp1039Arg) c.3106T>A (p.Trp1036Arg) | |
| 5 | g.37016126T>C | CA359482817 | NIPBL | c.4732T>C (p.Trp1578Arg) c.1-48452T>C (n.1-48452T>C) c.3988T>C (p.Trp1330Arg) c.4534T>C (p.Trp1512Arg) c.4351T>C (p.Trp1451Arg) c.4072T>C (p.Trp1358Arg) c.3115T>C (p.Trp1039Arg) c.3106T>C (p.Trp1036Arg) | |
| 5 | g.37016126T>G | CA359482821 | NIPBL | c.4732T>G (p.Trp1578Gly) c.1-48452T>G (n.1-48452T>G) c.3988T>G (p.Trp1330Gly) c.4534T>G (p.Trp1512Gly) c.4351T>G (p.Trp1451Gly) c.4072T>G (p.Trp1358Gly) c.3115T>G (p.Trp1039Gly) c.3106T>G (p.Trp1036Gly) | |
| 5 | g.37016127G>A | CA359482822 | NIPBL | c.4733G>A (p.Trp1578Ter) c.1-48451G>A (n.1-48451G>A) c.3989G>A (p.Trp1330Ter) c.4535G>A (p.Trp1512Ter) c.4352G>A (p.Trp1451Ter) c.4073G>A (p.Trp1358Ter) c.3116G>A (p.Trp1039Ter) c.3107G>A (p.Trp1036Ter) | ClinVar |
| 5 | g.37016127G>C | CA359482826 | NIPBL | c.4733G>C (p.Trp1578Ser) c.1-48451G>C (n.1-48451G>C) c.3989G>C (p.Trp1330Ser) c.4535G>C (p.Trp1512Ser) c.4352G>C (p.Trp1451Ser) c.4073G>C (p.Trp1358Ser) c.3116G>C (p.Trp1039Ser) c.3107G>C (p.Trp1036Ser) | |
| 5 | g.37016127G>T | CA359482827 | NIPBL | c.4733G>T (p.Trp1578Leu) c.1-48451G>T (n.1-48451G>T) c.3989G>T (p.Trp1330Leu) c.4535G>T (p.Trp1512Leu) c.4352G>T (p.Trp1451Leu) c.4073G>T (p.Trp1358Leu) c.3116G>T (p.Trp1039Leu) c.3107G>T (p.Trp1036Leu) | |
| 5 | g.37016127_37016128insA | CA2516196470 | NIPBL | c.4733_4734insA (p.Trp1578Ter) c.1-48451_1-48450insA (n.1-48451_1-48450insA) c.3989_3990insA (p.Trp1330Ter) c.4535_4536insA (p.Trp1512Ter) c.4352_4353insA (p.Trp1451Ter) c.4073_4074insA (p.Trp1358Ter) c.3116_3117insA (p.Trp1039Ter) c.3107_3108insA (p.Trp1036Ter) | |
| 5 | g.37016128G>A | CA359482845 | NIPBL | c.4734G>A (p.Trp1578Ter) c.1-48450G>A (n.1-48450G>A) c.3990G>A (p.Trp1330Ter) c.4536G>A (p.Trp1512Ter) c.4353G>A (p.Trp1451Ter) c.4074G>A (p.Trp1358Ter) c.3117G>A (p.Trp1039Ter) c.3108G>A (p.Trp1036Ter) | |
| 5 | g.37016128G>C | CA359482830 | NIPBL | c.4734G>C (p.Trp1578Cys) c.1-48450G>C (n.1-48450G>C) c.3990G>C (p.Trp1330Cys) c.4536G>C (p.Trp1512Cys) c.4353G>C (p.Trp1451Cys) c.4074G>C (p.Trp1358Cys) c.3117G>C (p.Trp1039Cys) c.3108G>C (p.Trp1036Cys) | |
| 5 | g.37016128G>T | CA359482840 | NIPBL | c.4734G>T (p.Trp1578Cys) c.1-48450G>T (n.1-48450G>T) c.3990G>T (p.Trp1330Cys) c.4536G>T (p.Trp1512Cys) c.4353G>T (p.Trp1451Cys) c.4074G>T (p.Trp1358Cys) c.3117G>T (p.Trp1039Cys) c.3108G>T (p.Trp1036Cys) | |
| 5 | g.37016128_37016129insTTTGCATGCAGGTGCATTTCGTGCAAGTGGTCCTGTTGCTCTGT | CA2565080571 | NIPBL | c.4734_4735insTTTGCATGCAGGTGCATTTCGTGCAAGTGGTCCTGTTGCTCTGT (p.Pro1579PhefsTer25) c.1-48450_1-48449insTTTGCATGCAGGTGCATTTCGTGCAAGTGGTCCTGTTGCTCTGT (n.1-48450_1-48449insTTTGCATGCAGGTGCATTTCGTGCAAGTGGTCCTGTTGCTCTGT) c.3990_3991insTTTGCATGCAGGTGCATTTCGTGCAAGTGGTCCTGTTGCTCTGT (p.Pro1331PhefsTer25) c.4536_4537insTTTGCATGCAGGTGCATTTCGTGCAAGTGGTCCTGTTGCTCTGT (p.Pro1513PhefsTer25) c.4353_4354insTTTGCATGCAGGTGCATTTCGTGCAAGTGGTCCTGTTGCTCTGT (p.Pro1452PhefsTer25) c.4074_4075insTTTGCATGCAGGTGCATTTCGTGCAAGTGGTCCTGTTGCTCTGT (p.Pro1359PhefsTer25) c.3117_3118insTTTGCATGCAGGTGCATTTCGTGCAAGTGGTCCTGTTGCTCTGT (p.Pro1040PhefsTer25) c.3108_3109insTTTGCATGCAGGTGCATTTCGTGCAAGTGGTCCTGTTGCTCTGT (p.Pro1037PhefsTer25) | |
| 5 | g.37016128_37016129insTTTGCATGCTGGTGCATTCCGTGCAAGCGGTCCTGTTGCTCTGT | CA2537297075 | NIPBL | c.4734_4735insTTTGCATGCTGGTGCATTCCGTGCAAGCGGTCCTGTTGCTCTGT (p.Pro1579PhefsTer25) c.1-48450_1-48449insTTTGCATGCTGGTGCATTCCGTGCAAGCGGTCCTGTTGCTCTGT (n.1-48450_1-48449insTTTGCATGCTGGTGCATTCCGTGCAAGCGGTCCTGTTGCTCTGT) c.3990_3991insTTTGCATGCTGGTGCATTCCGTGCAAGCGGTCCTGTTGCTCTGT (p.Pro1331PhefsTer25) c.4536_4537insTTTGCATGCTGGTGCATTCCGTGCAAGCGGTCCTGTTGCTCTGT (p.Pro1513PhefsTer25) c.4353_4354insTTTGCATGCTGGTGCATTCCGTGCAAGCGGTCCTGTTGCTCTGT (p.Pro1452PhefsTer25) c.4074_4075insTTTGCATGCTGGTGCATTCCGTGCAAGCGGTCCTGTTGCTCTGT (p.Pro1359PhefsTer25) c.3117_3118insTTTGCATGCTGGTGCATTCCGTGCAAGCGGTCCTGTTGCTCTGT (p.Pro1040PhefsTer25) c.3108_3109insTTTGCATGCTGGTGCATTCCGTGCAAGCGGTCCTGTTGCTCTGT (p.Pro1037PhefsTer25) | |
| 5 | g.37016129C>A | CA359482849 | NIPBL | c.4735C>A (p.Pro1579Thr) c.1-48449C>A (n.1-48449C>A) c.3991C>A (p.Pro1331Thr) c.4537C>A (p.Pro1513Thr) c.4354C>A (p.Pro1452Thr) c.4075C>A (p.Pro1359Thr) c.3118C>A (p.Pro1040Thr) c.3109C>A (p.Pro1037Thr) | |
| 5 | g.37016129C>G | CA359482853 | NIPBL | c.4735C>G (p.Pro1579Ala) c.1-48449C>G (n.1-48449C>G) c.3991C>G (p.Pro1331Ala) c.4537C>G (p.Pro1513Ala) c.4354C>G (p.Pro1452Ala) c.4075C>G (p.Pro1359Ala) c.3118C>G (p.Pro1040Ala) c.3109C>G (p.Pro1037Ala) | |
| 5 | g.37016129C>T | CA359482857 | NIPBL | c.4735C>T (p.Pro1579Ser) c.1-48449C>T (n.1-48449C>T) c.3991C>T (p.Pro1331Ser) c.4537C>T (p.Pro1513Ser) c.4354C>T (p.Pro1452Ser) c.4075C>T (p.Pro1359Ser) c.3118C>T (p.Pro1040Ser) c.3109C>T (p.Pro1037Ser) | |
| 5 | g.37016130C>A | CA359482863 | NIPBL | c.4736C>A (p.Pro1579Gln) c.1-48448C>A (n.1-48448C>A) c.3992C>A (p.Pro1331Gln) c.4538C>A (p.Pro1513Gln) c.4355C>A (p.Pro1452Gln) c.4076C>A (p.Pro1359Gln) c.3119C>A (p.Pro1040Gln) c.3110C>A (p.Pro1037Gln) | |
| 5 | g.37016130C>G | CA359482867 | NIPBL | c.4736C>G (p.Pro1579Arg) c.1-48448C>G (n.1-48448C>G) c.3992C>G (p.Pro1331Arg) c.4538C>G (p.Pro1513Arg) c.4355C>G (p.Pro1452Arg) c.4076C>G (p.Pro1359Arg) c.3119C>G (p.Pro1040Arg) c.3110C>G (p.Pro1037Arg) | |
| 5 | g.37016130C>T | CA359482876 | NIPBL | c.4736C>T (p.Pro1579Leu) c.1-48448C>T (n.1-48448C>T) c.3992C>T (p.Pro1331Leu) c.4538C>T (p.Pro1513Leu) c.4355C>T (p.Pro1452Leu) c.4076C>T (p.Pro1359Leu) c.3119C>T (p.Pro1040Leu) c.3110C>T (p.Pro1037Leu) | |
| 5 | g.37016131A>C | CA443904480 | NIPBL | c.4737A>C (p.Pro1579=) c.1-48447A>C (n.1-48447A>C) c.3993A>C (p.Pro1331=) c.4539A>C (p.Pro1513=) c.4356A>C (p.Pro1452=) c.4077A>C (p.Pro1359=) c.3120A>C (p.Pro1040=) c.3111A>C (p.Pro1037=) | |
| 5 | g.37016131A>G | CA443904477 | NIPBL | c.4737A>G (p.Pro1579=) c.1-48447A>G (n.1-48447A>G) c.3993A>G (p.Pro1331=) c.4539A>G (p.Pro1513=) c.4356A>G (p.Pro1452=) c.4077A>G (p.Pro1359=) c.3120A>G (p.Pro1040=) c.3111A>G (p.Pro1037=) | |
| 5 | g.37016131A>T | CA443904478 | NIPBL | c.4737A>T (p.Pro1579=) c.1-48447A>T (n.1-48447A>T) c.3993A>T (p.Pro1331=) c.4539A>T (p.Pro1513=) c.4356A>T (p.Pro1452=) c.4077A>T (p.Pro1359=) c.3120A>T (p.Pro1040=) c.3111A>T (p.Pro1037=) | gnomAD v4 |
| 5 | g.37016132G>A | CA359482877 | NIPBL | c.4738G>A (p.Ala1580Thr) c.1-48446G>A (n.1-48446G>A) c.3994G>A (p.Ala1332Thr) c.4540G>A (p.Ala1514Thr) c.4357G>A (p.Ala1453Thr) c.4078G>A (p.Ala1360Thr) c.3121G>A (p.Ala1041Thr) c.3112G>A (p.Ala1038Thr) | |
| 5 | g.37016132G>C | CA359482878 | NIPBL | c.4738G>C (p.Ala1580Pro) c.1-48446G>C (n.1-48446G>C) c.3994G>C (p.Ala1332Pro) c.4540G>C (p.Ala1514Pro) c.4357G>C (p.Ala1453Pro) c.4078G>C (p.Ala1360Pro) c.3121G>C (p.Ala1041Pro) c.3112G>C (p.Ala1038Pro) | |
| 5 | g.37016132G>T | CA359482879 | NIPBL | c.4738G>T (p.Ala1580Ser) c.1-48446G>T (n.1-48446G>T) c.3994G>T (p.Ala1332Ser) c.4540G>T (p.Ala1514Ser) c.4357G>T (p.Ala1453Ser) c.4078G>T (p.Ala1360Ser) c.3121G>T (p.Ala1041Ser) c.3112G>T (p.Ala1038Ser) | |
| 5 | g.37016133C>A | CA359482881 | NIPBL | c.4739C>A (p.Ala1580Asp) c.1-48445C>A (n.1-48445C>A) c.3995C>A (p.Ala1332Asp) c.4541C>A (p.Ala1514Asp) c.4358C>A (p.Ala1453Asp) c.4079C>A (p.Ala1360Asp) c.3122C>A (p.Ala1041Asp) c.3113C>A (p.Ala1038Asp) | |
| 5 | g.37016133C>G | CA359482884 | NIPBL | c.4739C>G (p.Ala1580Gly) c.1-48445C>G (n.1-48445C>G) c.3995C>G (p.Ala1332Gly) c.4541C>G (p.Ala1514Gly) c.4358C>G (p.Ala1453Gly) c.4079C>G (p.Ala1360Gly) c.3122C>G (p.Ala1041Gly) c.3113C>G (p.Ala1038Gly) | |
| 5 | g.37016133C>T | CA359482886 | NIPBL | c.4739C>T (p.Ala1580Val) c.1-48445C>T (n.1-48445C>T) c.3995C>T (p.Ala1332Val) c.4541C>T (p.Ala1514Val) c.4358C>T (p.Ala1453Val) c.4079C>T (p.Ala1360Val) c.3122C>T (p.Ala1041Val) c.3113C>T (p.Ala1038Val) | |
| 5 | g.37016134T>A | CA443904485 | NIPBL | c.4740T>A (p.Ala1580=) c.1-48444T>A (n.1-48444T>A) c.3996T>A (p.Ala1332=) c.4542T>A (p.Ala1514=) c.4359T>A (p.Ala1453=) c.4080T>A (p.Ala1360=) c.3123T>A (p.Ala1041=) c.3114T>A (p.Ala1038=) | |
| 5 | g.37016134T>C | CA3236620 | NIPBL | c.4740T>C (p.Ala1580=) c.1-48444T>C (n.1-48444T>C) c.3996T>C (p.Ala1332=) c.4542T>C (p.Ala1514=) c.4359T>C (p.Ala1453=) c.4080T>C (p.Ala1360=) c.3123T>C (p.Ala1041=) c.3114T>C (p.Ala1038=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37016134T>G | CA443904486 | NIPBL | c.4740T>G (p.Ala1580=) c.1-48444T>G (n.1-48444T>G) c.3996T>G (p.Ala1332=) c.4542T>G (p.Ala1514=) c.4359T>G (p.Ala1453=) c.4080T>G (p.Ala1360=) c.3123T>G (p.Ala1041=) c.3114T>G (p.Ala1038=) | |
| 5 | g.37016134T= | CA1539615756 | NIPBL | c.4740T= (p.Ala1580=) c.1-48444T= (n.1-48444T=) c.3996T= (p.Ala1332=) c.4542T= (p.Ala1514=) c.4359T= (p.Ala1453=) c.4080T= (p.Ala1360=) c.3123T= (p.Ala1041=) c.3114T= (p.Ala1038=) | |
| 5 | g.37016135G>A | CA359482912 | NIPBL | c.4741G>A (p.Ala1581Thr) c.1-48443G>A (n.1-48443G>A) c.3997G>A (p.Ala1333Thr) c.4543G>A (p.Ala1515Thr) c.4360G>A (p.Ala1454Thr) c.4081G>A (p.Ala1361Thr) c.3124G>A (p.Ala1042Thr) c.3115G>A (p.Ala1039Thr) | |
| 5 | g.37016135G>C | CA359482906 | NIPBL | c.4741G>C (p.Ala1581Pro) c.1-48443G>C (n.1-48443G>C) c.3997G>C (p.Ala1333Pro) c.4543G>C (p.Ala1515Pro) c.4360G>C (p.Ala1454Pro) c.4081G>C (p.Ala1361Pro) c.3124G>C (p.Ala1042Pro) c.3115G>C (p.Ala1039Pro) | |
| 5 | g.37016135G= | CA1539615762 | NIPBL | c.4741G= (p.Ala1581=) c.1-48443G= (n.1-48443G=) c.3997G= (p.Ala1333=) c.4543G= (p.Ala1515=) c.4360G= (p.Ala1454=) c.4081G= (p.Ala1361=) c.3124G= (p.Ala1042=) c.3115G= (p.Ala1039=) | |
| 5 | g.37016135G>T | CA359482911 | NIPBL | c.4741G>T (p.Ala1581Ser) c.1-48443G>T (n.1-48443G>T) c.3997G>T (p.Ala1333Ser) c.4543G>T (p.Ala1515Ser) c.4360G>T (p.Ala1454Ser) c.4081G>T (p.Ala1361Ser) c.3124G>T (p.Ala1042Ser) c.3115G>T (p.Ala1039Ser) | dbSNP |
| 5 | g.37016136C>A | CA359482913 | NIPBL | c.4742C>A (p.Ala1581Asp) c.1-48442C>A (n.1-48442C>A) c.3998C>A (p.Ala1333Asp) c.4544C>A (p.Ala1515Asp) c.4361C>A (p.Ala1454Asp) c.4082C>A (p.Ala1361Asp) c.3125C>A (p.Ala1042Asp) c.3116C>A (p.Ala1039Asp) | |
| 5 | g.37016136C>G | CA359482914 | NIPBL | c.4742C>G (p.Ala1581Gly) c.1-48442C>G (n.1-48442C>G) c.3998C>G (p.Ala1333Gly) c.4544C>G (p.Ala1515Gly) c.4361C>G (p.Ala1454Gly) c.4082C>G (p.Ala1361Gly) c.3125C>G (p.Ala1042Gly) c.3116C>G (p.Ala1039Gly) | |
| 5 | g.37016136C>T | CA359482915 | NIPBL | c.4742C>T (p.Ala1581Val) c.1-48442C>T (n.1-48442C>T) c.3998C>T (p.Ala1333Val) c.4544C>T (p.Ala1515Val) c.4361C>T (p.Ala1454Val) c.4082C>T (p.Ala1361Val) c.3125C>T (p.Ala1042Val) c.3116C>T (p.Ala1039Val) | |
| 5 | g.37016137T>A | CA3236621 | NIPBL | c.4743T>A (p.Ala1581=) c.1-48441T>A (n.1-48441T>A) c.3999T>A (p.Ala1333=) c.4545T>A (p.Ala1515=) c.4362T>A (p.Ala1454=) c.4083T>A (p.Ala1361=) c.3126T>A (p.Ala1042=) c.3117T>A (p.Ala1039=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37016137T>C | CA443904488 | NIPBL | c.4743T>C (p.Ala1581=) c.1-48441T>C (n.1-48441T>C) c.3999T>C (p.Ala1333=) c.4545T>C (p.Ala1515=) c.4362T>C (p.Ala1454=) c.4083T>C (p.Ala1361=) c.3126T>C (p.Ala1042=) c.3117T>C (p.Ala1039=) | |
| 5 | g.37016137T>G | CA443904489 | NIPBL | c.4743T>G (p.Ala1581=) c.1-48441T>G (n.1-48441T>G) c.3999T>G (p.Ala1333=) c.4545T>G (p.Ala1515=) c.4362T>G (p.Ala1454=) c.4083T>G (p.Ala1361=) c.3126T>G (p.Ala1042=) c.3117T>G (p.Ala1039=) | |
| 5 | g.37016137T= | CA1539615767 | NIPBL | c.4743T= (p.Ala1581=) c.1-48441T= (n.1-48441T=) c.3999T= (p.Ala1333=) c.4545T= (p.Ala1515=) c.4362T= (p.Ala1454=) c.4083T= (p.Ala1361=) c.3126T= (p.Ala1042=) c.3117T= (p.Ala1039=) | |
| 5 | g.37016138G>A | CA359482919 | NIPBL | c.4744G>A (p.Glu1582Lys) c.1-48440G>A (n.1-48440G>A) c.4000G>A (p.Glu1334Lys) c.4546G>A (p.Glu1516Lys) c.4363G>A (p.Glu1455Lys) c.4084G>A (p.Glu1362Lys) c.3127G>A (p.Glu1043Lys) c.3118G>A (p.Glu1040Lys) | |
| 5 | g.37016138G>C | CA359482920 | NIPBL | c.4744G>C (p.Glu1582Gln) c.1-48440G>C (n.1-48440G>C) c.4000G>C (p.Glu1334Gln) c.4546G>C (p.Glu1516Gln) c.4363G>C (p.Glu1455Gln) c.4084G>C (p.Glu1362Gln) c.3127G>C (p.Glu1043Gln) c.3118G>C (p.Glu1040Gln) | |
| 5 | g.37016138G>T | CA359482922 | NIPBL | c.4744G>T (p.Glu1582Ter) c.1-48440G>T (n.1-48440G>T) c.4000G>T (p.Glu1334Ter) c.4546G>T (p.Glu1516Ter) c.4363G>T (p.Glu1455Ter) c.4084G>T (p.Glu1362Ter) c.3127G>T (p.Glu1043Ter) c.3118G>T (p.Glu1040Ter) | |
| 5 | g.37016139A= | CA1539615771 | NIPBL | c.4745A= (p.Glu1582=) c.1-48439A= (n.1-48439A=) c.4001A= (p.Glu1334=) c.4547A= (p.Glu1516=) c.4364A= (p.Glu1455=) c.4085A= (p.Glu1362=) c.3128A= (p.Glu1043=) c.3119A= (p.Glu1040=) | |
| 5 | g.37016139A>C | CA359482925 | NIPBL | c.4745A>C (p.Glu1582Ala) c.1-48439A>C (n.1-48439A>C) c.4001A>C (p.Glu1334Ala) c.4547A>C (p.Glu1516Ala) c.4364A>C (p.Glu1455Ala) c.4085A>C (p.Glu1362Ala) c.3128A>C (p.Glu1043Ala) c.3119A>C (p.Glu1040Ala) | |
| 5 | g.37016139A>G | CA359482927 | NIPBL | c.4745A>G (p.Glu1582Gly) c.1-48439A>G (n.1-48439A>G) c.4001A>G (p.Glu1334Gly) c.4547A>G (p.Glu1516Gly) c.4364A>G (p.Glu1455Gly) c.4085A>G (p.Glu1362Gly) c.3128A>G (p.Glu1043Gly) c.3119A>G (p.Glu1040Gly) | |
| 5 | g.37016139A>T | CA359482931 | NIPBL | c.4745A>T (p.Glu1582Val) c.1-48439A>T (n.1-48439A>T) c.4001A>T (p.Glu1334Val) c.4547A>T (p.Glu1516Val) c.4364A>T (p.Glu1455Val) c.4085A>T (p.Glu1362Val) c.3128A>T (p.Glu1043Val) c.3119A>T (p.Glu1040Val) | |
| 5 | g.37016140A>C | CA359482943 | NIPBL | c.4746A>C (p.Glu1582Asp) c.1-48438A>C (n.1-48438A>C) c.4002A>C (p.Glu1334Asp) c.4548A>C (p.Glu1516Asp) c.4365A>C (p.Glu1455Asp) c.4086A>C (p.Glu1362Asp) c.3129A>C (p.Glu1043Asp) c.3120A>C (p.Glu1040Asp) | |
| 5 | g.37016140A>G | CA443904490 | NIPBL | c.4746A>G (p.Glu1582=) c.1-48438A>G (n.1-48438A>G) c.4002A>G (p.Glu1334=) c.4548A>G (p.Glu1516=) c.4365A>G (p.Glu1455=) c.4086A>G (p.Glu1362=) c.3129A>G (p.Glu1043=) c.3120A>G (p.Glu1040=) | |
| 5 | g.37016140A>T | CA359482946 | NIPBL | c.4746A>T (p.Glu1582Asp) c.1-48438A>T (n.1-48438A>T) c.4002A>T (p.Glu1334Asp) c.4548A>T (p.Glu1516Asp) c.4365A>T (p.Glu1455Asp) c.4086A>T (p.Glu1362Asp) c.3129A>T (p.Glu1043Asp) c.3120A>T (p.Glu1040Asp) | |
| 5 | g.37016143_37016145dup | CA916082698 | NIPBL | c.4749_4751dup (p.Leu1584_Leu1585insLeu) c.1-48435_1-48433dup (n.1-48435_1-48433dup) c.4005_4007dup (p.Leu1336_Leu1337insLeu) c.4551_4553dup (p.Leu1518_Leu1519insLeu) c.4368_4370dup (p.Leu1457_Leu1458insLeu) c.4089_4091dup (p.Leu1364_Leu1365insLeu) c.3132_3134dup (p.Leu1045_Leu1046insLeu) c.3123_3125dup (p.Leu1042_Leu1043insLeu) | ClinVar dbSNP |
| 5 | g.37016141C>A | CA359482947 | NIPBL | c.4747C>A (p.Leu1583Ile) c.1-48437C>A (n.1-48437C>A) c.4003C>A (p.Leu1335Ile) c.4549C>A (p.Leu1517Ile) c.4366C>A (p.Leu1456Ile) c.4087C>A (p.Leu1363Ile) c.3130C>A (p.Leu1044Ile) c.3121C>A (p.Leu1041Ile) | gnomAD v4 |
| 5 | g.37016141C= | CA1539615780 | NIPBL | c.4747C= (p.Leu1583=) c.1-48437C= (n.1-48437C=) c.4003C= (p.Leu1335=) c.4549C= (p.Leu1517=) c.4366C= (p.Leu1456=) c.4087C= (p.Leu1363=) c.3130C= (p.Leu1044=) c.3121C= (p.Leu1041=) | |
| 5 | g.37016141C>G | CA359482948 | NIPBL | c.4747C>G (p.Leu1583Val) c.1-48437C>G (n.1-48437C>G) c.4003C>G (p.Leu1335Val) c.4549C>G (p.Leu1517Val) c.4366C>G (p.Leu1456Val) c.4087C>G (p.Leu1363Val) c.3130C>G (p.Leu1044Val) c.3121C>G (p.Leu1041Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37016141C>T | CA443904491 | NIPBL | c.4747C>T (p.Leu1583=) c.1-48437C>T (n.1-48437C>T) c.4003C>T (p.Leu1335=) c.4549C>T (p.Leu1517=) c.4366C>T (p.Leu1456=) c.4087C>T (p.Leu1363=) c.3130C>T (p.Leu1044=) c.3121C>T (p.Leu1041=) | |
| 5 | g.37016142T>A | CA359482949 | NIPBL | c.4748T>A (p.Leu1583Gln) c.1-48436T>A (n.1-48436T>A) c.4004T>A (p.Leu1335Gln) c.4550T>A (p.Leu1517Gln) c.4367T>A (p.Leu1456Gln) c.4088T>A (p.Leu1363Gln) c.3131T>A (p.Leu1044Gln) c.3122T>A (p.Leu1041Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37016142T>C | CA359482957 | NIPBL | c.4748T>C (p.Leu1583Pro) c.1-48436T>C (n.1-48436T>C) c.4004T>C (p.Leu1335Pro) c.4550T>C (p.Leu1517Pro) c.4367T>C (p.Leu1456Pro) c.4088T>C (p.Leu1363Pro) c.3131T>C (p.Leu1044Pro) c.3122T>C (p.Leu1041Pro) | |
| 5 | g.37016142T>G | CA359482961 | NIPBL | c.4748T>G (p.Leu1583Arg) c.1-48436T>G (n.1-48436T>G) c.4004T>G (p.Leu1335Arg) c.4550T>G (p.Leu1517Arg) c.4367T>G (p.Leu1456Arg) c.4088T>G (p.Leu1363Arg) c.3131T>G (p.Leu1044Arg) c.3122T>G (p.Leu1041Arg) | |
| 5 | g.37016142T= | CA1539615784 | NIPBL | c.4748T= (p.Leu1583=) c.1-48436T= (n.1-48436T=) c.4004T= (p.Leu1335=) c.4550T= (p.Leu1517=) c.4367T= (p.Leu1456=) c.4088T= (p.Leu1363=) c.3131T= (p.Leu1044=) c.3122T= (p.Leu1041=) | |
| 5 | g.37016143A>C | CA443904493 | NIPBL | c.4749A>C (p.Leu1583=) c.1-48435A>C (n.1-48435A>C) c.4005A>C (p.Leu1335=) c.4551A>C (p.Leu1517=) c.4368A>C (p.Leu1456=) c.4089A>C (p.Leu1363=) c.3132A>C (p.Leu1044=) c.3123A>C (p.Leu1041=) | gnomAD v4 |
| 5 | g.37016143A>G | CA443904494 | NIPBL | c.4749A>G (p.Leu1583=) c.1-48435A>G (n.1-48435A>G) c.4005A>G (p.Leu1335=) c.4551A>G (p.Leu1517=) c.4368A>G (p.Leu1456=) c.4089A>G (p.Leu1363=) c.3132A>G (p.Leu1044=) c.3123A>G (p.Leu1041=) | dbSNP gnomAD v4 |
| 5 | g.37016143A>T | CA443904495 | NIPBL | c.4749A>T (p.Leu1583=) c.1-48435A>T (n.1-48435A>T) c.4005A>T (p.Leu1335=) c.4551A>T (p.Leu1517=) c.4368A>T (p.Leu1456=) c.4089A>T (p.Leu1363=) c.3132A>T (p.Leu1044=) c.3123A>T (p.Leu1041=) | |
| 5 | g.37016144C>A | CA359482969 | NIPBL | c.4750C>A (p.Leu1584Ile) c.1-48434C>A (n.1-48434C>A) c.4006C>A (p.Leu1336Ile) c.4552C>A (p.Leu1518Ile) c.4369C>A (p.Leu1457Ile) c.4090C>A (p.Leu1364Ile) c.3133C>A (p.Leu1045Ile) c.3124C>A (p.Leu1042Ile) | |
| 5 | g.37016144C>G | CA359482971 | NIPBL | c.4750C>G (p.Leu1584Val) c.1-48434C>G (n.1-48434C>G) c.4006C>G (p.Leu1336Val) c.4552C>G (p.Leu1518Val) c.4369C>G (p.Leu1457Val) c.4090C>G (p.Leu1364Val) c.3133C>G (p.Leu1045Val) c.3124C>G (p.Leu1042Val) | |
| 5 | g.37016144C>T | CA359482974 | NIPBL | c.4750C>T (p.Leu1584Phe) c.1-48434C>T (n.1-48434C>T) c.4006C>T (p.Leu1336Phe) c.4552C>T (p.Leu1518Phe) c.4369C>T (p.Leu1457Phe) c.4090C>T (p.Leu1364Phe) c.3133C>T (p.Leu1045Phe) c.3124C>T (p.Leu1042Phe) | |
| 5 | g.37016145T>A | CA359482977 | NIPBL | c.4751T>A (p.Leu1584His) c.1-48433T>A (n.1-48433T>A) c.4007T>A (p.Leu1336His) c.4553T>A (p.Leu1518His) c.4370T>A (p.Leu1457His) c.4091T>A (p.Leu1364His) c.3134T>A (p.Leu1045His) c.3125T>A (p.Leu1042His) | |
| 5 | g.37016145T>C | CA359482979 | NIPBL | c.4751T>C (p.Leu1584Pro) c.1-48433T>C (n.1-48433T>C) c.4007T>C (p.Leu1336Pro) c.4553T>C (p.Leu1518Pro) c.4370T>C (p.Leu1457Pro) c.4091T>C (p.Leu1364Pro) c.3134T>C (p.Leu1045Pro) c.3125T>C (p.Leu1042Pro) | |
| 5 | g.37016145T>G | CA359482981 | NIPBL | c.4751T>G (p.Leu1584Arg) c.1-48433T>G (n.1-48433T>G) c.4007T>G (p.Leu1336Arg) c.4553T>G (p.Leu1518Arg) c.4370T>G (p.Leu1457Arg) c.4091T>G (p.Leu1364Arg) c.3134T>G (p.Leu1045Arg) c.3125T>G (p.Leu1042Arg) | |
| 5 | g.37016146C>A | CA443904497 | NIPBL | c.4752C>A (p.Leu1584=) c.1-48432C>A (n.1-48432C>A) c.4008C>A (p.Leu1336=) c.4554C>A (p.Leu1518=) c.4371C>A (p.Leu1457=) c.4092C>A (p.Leu1364=) c.3135C>A (p.Leu1045=) c.3126C>A (p.Leu1042=) | |
| 5 | g.37016146C= | CA1539615786 | NIPBL | c.4752C= (p.Leu1584=) c.1-48432C= (n.1-48432C=) c.4008C= (p.Leu1336=) c.4554C= (p.Leu1518=) c.4371C= (p.Leu1457=) c.4092C= (p.Leu1364=) c.3135C= (p.Leu1045=) c.3126C= (p.Leu1042=) | |
| 5 | g.37016146C>G | CA443904498 | NIPBL | c.4752C>G (p.Leu1584=) c.1-48432C>G (n.1-48432C>G) c.4008C>G (p.Leu1336=) c.4554C>G (p.Leu1518=) c.4371C>G (p.Leu1457=) c.4092C>G (p.Leu1364=) c.3135C>G (p.Leu1045=) c.3126C>G (p.Leu1042=) | |
| 5 | g.37016146C>T | CA443904499 | NIPBL | c.4752C>T (p.Leu1584=) c.1-48432C>T (n.1-48432C>T) c.4008C>T (p.Leu1336=) c.4554C>T (p.Leu1518=) c.4371C>T (p.Leu1457=) c.4092C>T (p.Leu1364=) c.3135C>T (p.Leu1045=) c.3126C>T (p.Leu1042=) | dbSNP COSMIC COSMIC |
| 5 | g.37016147C>A | CA359482992 | NIPBL | c.4753C>A (p.Leu1585Ile) c.1-48431C>A (n.1-48431C>A) c.4009C>A (p.Leu1337Ile) c.4555C>A (p.Leu1519Ile) c.4372C>A (p.Leu1458Ile) c.4093C>A (p.Leu1365Ile) c.3136C>A (p.Leu1046Ile) c.3127C>A (p.Leu1043Ile) | |
| 5 | g.37016147C>G | CA359482995 | NIPBL | c.4753C>G (p.Leu1585Val) c.1-48431C>G (n.1-48431C>G) c.4009C>G (p.Leu1337Val) c.4555C>G (p.Leu1519Val) c.4372C>G (p.Leu1458Val) c.4093C>G (p.Leu1365Val) c.3136C>G (p.Leu1046Val) c.3127C>G (p.Leu1043Val) | |
| 5 | g.37016147C>T | CA359482997 | NIPBL | c.4753C>T (p.Leu1585Phe) c.1-48431C>T (n.1-48431C>T) c.4009C>T (p.Leu1337Phe) c.4555C>T (p.Leu1519Phe) c.4372C>T (p.Leu1458Phe) c.4093C>T (p.Leu1365Phe) c.3136C>T (p.Leu1046Phe) c.3127C>T (p.Leu1043Phe) | gnomAD v4 |
| 5 | g.37016148T>A | CA359483002 | NIPBL | c.4754T>A (p.Leu1585His) c.1-48430T>A (n.1-48430T>A) c.4010T>A (p.Leu1337His) c.4556T>A (p.Leu1519His) c.4373T>A (p.Leu1458His) c.4094T>A (p.Leu1365His) c.3137T>A (p.Leu1046His) c.3128T>A (p.Leu1043His) | |
| 5 | g.37016148T>C | CA359482999 | NIPBL | c.4754T>C (p.Leu1585Pro) c.1-48430T>C (n.1-48430T>C) c.4010T>C (p.Leu1337Pro) c.4556T>C (p.Leu1519Pro) c.4373T>C (p.Leu1458Pro) c.4094T>C (p.Leu1365Pro) c.3137T>C (p.Leu1046Pro) c.3128T>C (p.Leu1043Pro) | |
| 5 | g.37016148T>G | CA359483000 | NIPBL | c.4754T>G (p.Leu1585Arg) c.1-48430T>G (n.1-48430T>G) c.4010T>G (p.Leu1337Arg) c.4556T>G (p.Leu1519Arg) c.4373T>G (p.Leu1458Arg) c.4094T>G (p.Leu1365Arg) c.3137T>G (p.Leu1046Arg) c.3128T>G (p.Leu1043Arg) | |
| 5 | g.37016149T>A | CA443904504 | NIPBL | c.4755T>A (p.Leu1585=) c.1-48429T>A (n.1-48429T>A) c.4011T>A (p.Leu1337=) c.4557T>A (p.Leu1519=) c.4374T>A (p.Leu1458=) c.4095T>A (p.Leu1365=) c.3138T>A (p.Leu1046=) c.3129T>A (p.Leu1043=) | |
| 5 | g.37016149T>C | CA443904502 | NIPBL | c.4755T>C (p.Leu1585=) c.1-48429T>C (n.1-48429T>C) c.4011T>C (p.Leu1337=) c.4557T>C (p.Leu1519=) c.4374T>C (p.Leu1458=) c.4095T>C (p.Leu1365=) c.3138T>C (p.Leu1046=) c.3129T>C (p.Leu1043=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37016149T>G | CA443904501 | NIPBL | c.4755T>G (p.Leu1585=) c.1-48429T>G (n.1-48429T>G) c.4011T>G (p.Leu1337=) c.4557T>G (p.Leu1519=) c.4374T>G (p.Leu1458=) c.4095T>G (p.Leu1365=) c.3138T>G (p.Leu1046=) c.3129T>G (p.Leu1043=) | |
| 5 | g.37016149T= | CA1539615789 | NIPBL | c.4755T= (p.Leu1585=) c.1-48429T= (n.1-48429T=) c.4011T= (p.Leu1337=) c.4557T= (p.Leu1519=) c.4374T= (p.Leu1458=) c.4095T= (p.Leu1365=) c.3138T= (p.Leu1046=) c.3129T= (p.Leu1043=) | |
| 5 | g.37016150A>C | CA359483004 | NIPBL | c.4756A>C (p.Ser1586Arg) c.1-48428A>C (n.1-48428A>C) c.4012A>C (p.Ser1338Arg) c.4558A>C (p.Ser1520Arg) c.4375A>C (p.Ser1459Arg) c.4096A>C (p.Ser1366Arg) c.3139A>C (p.Ser1047Arg) c.3130A>C (p.Ser1044Arg) | |
| 5 | g.37016150A>G | CA359483026 | NIPBL | c.4756A>G (p.Ser1586Gly) c.1-48428A>G (n.1-48428A>G) c.4012A>G (p.Ser1338Gly) c.4558A>G (p.Ser1520Gly) c.4375A>G (p.Ser1459Gly) c.4096A>G (p.Ser1366Gly) c.3139A>G (p.Ser1047Gly) c.3130A>G (p.Ser1044Gly) | |
| 5 | g.37016150A>T | CA359483021 | NIPBL | c.4756A>T (p.Ser1586Cys) c.1-48428A>T (n.1-48428A>T) c.4012A>T (p.Ser1338Cys) c.4558A>T (p.Ser1520Cys) c.4375A>T (p.Ser1459Cys) c.4096A>T (p.Ser1366Cys) c.3139A>T (p.Ser1047Cys) c.3130A>T (p.Ser1044Cys) | |
| 5 | g.37016150_37016154delinsAGTTT | CA1539615791 | NIPBL | c.4756_4760delinsAGTTT (p.Ser1586=) c.1-48428_1-48424delinsAGTTT (n.1-48428_1-48424delinsAGTTT) c.4012_4016delinsAGTTT (p.Ser1338=) c.4558_4562delinsAGTTT (p.Ser1520=) c.4375_4379delinsAGTTT (p.Ser1459=) c.4096_4100delinsAGTTT (p.Ser1366=) c.3139_3143delinsAGTTT (p.Ser1047=) c.3130_3134delinsAGTTT (p.Ser1044=) | |
| 5 | g.37016151G>A | CA359483033 | NIPBL | c.4757G>A (p.Ser1586Asn) c.1-48427G>A (n.1-48427G>A) c.4013G>A (p.Ser1338Asn) c.4559G>A (p.Ser1520Asn) c.4376G>A (p.Ser1459Asn) c.4097G>A (p.Ser1366Asn) c.3140G>A (p.Ser1047Asn) c.3131G>A (p.Ser1044Asn) | |
| 5 | g.37016151G>C | CA359483035 | NIPBL | c.4757G>C (p.Ser1586Thr) c.1-48427G>C (n.1-48427G>C) c.4013G>C (p.Ser1338Thr) c.4559G>C (p.Ser1520Thr) c.4376G>C (p.Ser1459Thr) c.4097G>C (p.Ser1366Thr) c.3140G>C (p.Ser1047Thr) c.3131G>C (p.Ser1044Thr) | |
| 5 | g.37016151G>T | CA359483034 | NIPBL | c.4757G>T (p.Ser1586Ile) c.1-48427G>T (n.1-48427G>T) c.4013G>T (p.Ser1338Ile) c.4559G>T (p.Ser1520Ile) c.4376G>T (p.Ser1459Ile) c.4097G>T (p.Ser1366Ile) c.3140G>T (p.Ser1047Ile) c.3131G>T (p.Ser1044Ile) | |
| 5 | g.37016154_37016157del | CA658796513 | NIPBL | c.4760_4763del (p.Leu1587Ter) c.1-48424_1-48421del (n.1-48424_1-48421del) c.4016_4019del (p.Leu1339Ter) c.4562_4565del (p.Leu1521Ter) c.4379_4382del (p.Leu1460Ter) c.4100_4103del (p.Leu1367Ter) c.3143_3146del (p.Leu1048Ter) c.3134_3137del (p.Leu1045Ter) | ClinVar dbSNP |
| 5 | g.37016152T>A | CA359483036 | NIPBL | c.4758T>A (p.Ser1586Arg) c.1-48426T>A (n.1-48426T>A) c.4014T>A (p.Ser1338Arg) c.4560T>A (p.Ser1520Arg) c.4377T>A (p.Ser1459Arg) c.4098T>A (p.Ser1366Arg) c.3141T>A (p.Ser1047Arg) c.3132T>A (p.Ser1044Arg) | |
| 5 | g.37016152T>C | CA443904506 | NIPBL | c.4758T>C (p.Ser1586=) c.1-48426T>C (n.1-48426T>C) c.4014T>C (p.Ser1338=) c.4560T>C (p.Ser1520=) c.4377T>C (p.Ser1459=) c.4098T>C (p.Ser1366=) c.3141T>C (p.Ser1047=) c.3132T>C (p.Ser1044=) | dbSNP |
| 5 | g.37016152T>G | CA359483038 | NIPBL | c.4758T>G (p.Ser1586Arg) c.1-48426T>G (n.1-48426T>G) c.4014T>G (p.Ser1338Arg) c.4560T>G (p.Ser1520Arg) c.4377T>G (p.Ser1459Arg) c.4098T>G (p.Ser1366Arg) c.3141T>G (p.Ser1047Arg) c.3132T>G (p.Ser1044Arg) | |
| 5 | g.37016153T>A | CA359483044 | NIPBL | c.4759T>A (p.Leu1587Met) c.1-48425T>A (n.1-48425T>A) c.4015T>A (p.Leu1339Met) c.4561T>A (p.Leu1521Met) c.4378T>A (p.Leu1460Met) c.4099T>A (p.Leu1367Met) c.3142T>A (p.Leu1048Met) c.3133T>A (p.Leu1045Met) | |
| 5 | g.37016153T>C | CA443904507 | NIPBL | c.4759T>C (p.Leu1587=) c.1-48425T>C (n.1-48425T>C) c.4015T>C (p.Leu1339=) c.4561T>C (p.Leu1521=) c.4378T>C (p.Leu1460=) c.4099T>C (p.Leu1367=) c.3142T>C (p.Leu1048=) c.3133T>C (p.Leu1045=) | |
| 5 | g.37016153T>G | CA359483051 | NIPBL | c.4759T>G (p.Leu1587Val) c.1-48425T>G (n.1-48425T>G) c.4015T>G (p.Leu1339Val) c.4561T>G (p.Leu1521Val) c.4378T>G (p.Leu1460Val) c.4099T>G (p.Leu1367Val) c.3142T>G (p.Leu1048Val) c.3133T>G (p.Leu1045Val) | |
| 5 | g.37016154T>A | CA359483052 | NIPBL | c.4760T>A (p.Leu1587Ter) c.1-48424T>A (n.1-48424T>A) c.4016T>A (p.Leu1339Ter) c.4562T>A (p.Leu1521Ter) c.4379T>A (p.Leu1460Ter) c.4100T>A (p.Leu1367Ter) c.3143T>A (p.Leu1048Ter) c.3134T>A (p.Leu1045Ter) | |
| 5 | g.37016154T>C | CA359483054 | NIPBL | c.4760T>C (p.Leu1587Ser) c.1-48424T>C (n.1-48424T>C) c.4016T>C (p.Leu1339Ser) c.4562T>C (p.Leu1521Ser) c.4379T>C (p.Leu1460Ser) c.4100T>C (p.Leu1367Ser) c.3143T>C (p.Leu1048Ser) c.3134T>C (p.Leu1045Ser) | |
| 5 | g.37016154T>G | CA359483053 | NIPBL | c.4760T>G (p.Leu1587Trp) c.1-48424T>G (n.1-48424T>G) c.4016T>G (p.Leu1339Trp) c.4562T>G (p.Leu1521Trp) c.4379T>G (p.Leu1460Trp) c.4100T>G (p.Leu1367Trp) c.3143T>G (p.Leu1048Trp) c.3134T>G (p.Leu1045Trp) | |
| 5 | g.37016155G>A | CA443904509 | NIPBL | c.4761G>A (p.Leu1587=) c.1-48423G>A (n.1-48423G>A) c.4017G>A (p.Leu1339=) c.4563G>A (p.Leu1521=) c.4380G>A (p.Leu1460=) c.4101G>A (p.Leu1367=) c.3144G>A (p.Leu1048=) c.3135G>A (p.Leu1045=) | |
| 5 | g.37016155G>C | CA359483055 | NIPBL | c.4761G>C (p.Leu1587Phe) c.1-48423G>C (n.1-48423G>C) c.4017G>C (p.Leu1339Phe) c.4563G>C (p.Leu1521Phe) c.4380G>C (p.Leu1460Phe) c.4101G>C (p.Leu1367Phe) c.3144G>C (p.Leu1048Phe) c.3135G>C (p.Leu1045Phe) | |
| 5 | g.37016155G>T | CA359483059 | NIPBL | c.4761G>T (p.Leu1587Phe) c.1-48423G>T (n.1-48423G>T) c.4017G>T (p.Leu1339Phe) c.4563G>T (p.Leu1521Phe) c.4380G>T (p.Leu1460Phe) c.4101G>T (p.Leu1367Phe) c.3144G>T (p.Leu1048Phe) c.3135G>T (p.Leu1045Phe) | |
| 5 | g.37016156T>A | CA359483072 | NIPBL | c.4762T>A (p.Leu1588Ile) c.1-48422T>A (n.1-48422T>A) c.4018T>A (p.Leu1340Ile) c.4564T>A (p.Leu1522Ile) c.4381T>A (p.Leu1461Ile) c.4102T>A (p.Leu1368Ile) c.3145T>A (p.Leu1049Ile) c.3136T>A (p.Leu1046Ile) | |
| 5 | g.37016156T>C | CA443904510 | NIPBL | c.4762T>C (p.Leu1588=) c.1-48422T>C (n.1-48422T>C) c.4018T>C (p.Leu1340=) c.4564T>C (p.Leu1522=) c.4381T>C (p.Leu1461=) c.4102T>C (p.Leu1368=) c.3145T>C (p.Leu1049=) c.3136T>C (p.Leu1046=) | |
| 5 | g.37016156T>G | CA359483075 | NIPBL | c.4762T>G (p.Leu1588Val) c.1-48422T>G (n.1-48422T>G) c.4018T>G (p.Leu1340Val) c.4564T>G (p.Leu1522Val) c.4381T>G (p.Leu1461Val) c.4102T>G (p.Leu1368Val) c.3145T>G (p.Leu1049Val) c.3136T>G (p.Leu1046Val) | |
| 5 | g.37016157T>A | CA359483084 | NIPBL | c.4763T>A (p.Leu1588Ter) c.1-48421T>A (n.1-48421T>A) c.4019T>A (p.Leu1340Ter) c.4565T>A (p.Leu1522Ter) c.4382T>A (p.Leu1461Ter) c.4103T>A (p.Leu1368Ter) c.3146T>A (p.Leu1049Ter) c.3137T>A (p.Leu1046Ter) | |
| 5 | g.37016157T>C | CA359483093 | NIPBL | c.4763T>C (p.Leu1588Ser) c.1-48421T>C (n.1-48421T>C) c.4019T>C (p.Leu1340Ser) c.4565T>C (p.Leu1522Ser) c.4382T>C (p.Leu1461Ser) c.4103T>C (p.Leu1368Ser) c.3146T>C (p.Leu1049Ser) c.3137T>C (p.Leu1046Ser) | |
| 5 | g.37016157T>G | CA359483097 | NIPBL | c.4763T>G (p.Leu1588Ter) c.1-48421T>G (n.1-48421T>G) c.4019T>G (p.Leu1340Ter) c.4565T>G (p.Leu1522Ter) c.4382T>G (p.Leu1461Ter) c.4103T>G (p.Leu1368Ter) c.3146T>G (p.Leu1049Ter) c.3137T>G (p.Leu1046Ter) | |
| 5 | g.37016158A>C | CA359483100 | NIPBL | c.4764A>C (p.Leu1588Phe) c.1-48420A>C (n.1-48420A>C) c.4020A>C (p.Leu1340Phe) c.4566A>C (p.Leu1522Phe) c.4383A>C (p.Leu1461Phe) c.4104A>C (p.Leu1368Phe) c.3147A>C (p.Leu1049Phe) c.3138A>C (p.Leu1046Phe) | |
| 5 | g.37016158A>G | CA443904511 | NIPBL | c.4764A>G (p.Leu1588=) c.1-48420A>G (n.1-48420A>G) c.4020A>G (p.Leu1340=) c.4566A>G (p.Leu1522=) c.4383A>G (p.Leu1461=) c.4104A>G (p.Leu1368=) c.3147A>G (p.Leu1049=) c.3138A>G (p.Leu1046=) | |
| 5 | g.37016158A>T | CA359483103 | NIPBL | c.4764A>T (p.Leu1588Phe) c.1-48420A>T (n.1-48420A>T) c.4020A>T (p.Leu1340Phe) c.4566A>T (p.Leu1522Phe) c.4383A>T (p.Leu1461Phe) c.4104A>T (p.Leu1368Phe) c.3147A>T (p.Leu1049Phe) c.3138A>T (p.Leu1046Phe) | |
| 5 | g.37016159G>A | CA359483104 | NIPBL | c.4765G>A (p.Gly1589Arg) c.1-48419G>A (n.1-48419G>A) c.4021G>A (p.Gly1341Arg) c.4567G>A (p.Gly1523Arg) c.4384G>A (p.Gly1462Arg) c.4105G>A (p.Gly1369Arg) c.3148G>A (p.Gly1050Arg) c.3139G>A (p.Gly1047Arg) | |
| 5 | g.37016159G>C | CA359483105 | NIPBL | c.4765G>C (p.Gly1589Arg) c.1-48419G>C (n.1-48419G>C) c.4021G>C (p.Gly1341Arg) c.4567G>C (p.Gly1523Arg) c.4384G>C (p.Gly1462Arg) c.4105G>C (p.Gly1369Arg) c.3148G>C (p.Gly1050Arg) c.3139G>C (p.Gly1047Arg) | |
| 5 | g.37016159G>T | CA359483109 | NIPBL | c.4765G>T (p.Gly1589Trp) c.1-48419G>T (n.1-48419G>T) c.4021G>T (p.Gly1341Trp) c.4567G>T (p.Gly1523Trp) c.4384G>T (p.Gly1462Trp) c.4105G>T (p.Gly1369Trp) c.3148G>T (p.Gly1050Trp) c.3139G>T (p.Gly1047Trp) | |
| 5 | g.37016160G>A | CA359483116 | NIPBL | c.4766G>A (p.Gly1589Glu) c.1-48418G>A (n.1-48418G>A) c.4022G>A (p.Gly1341Glu) c.4568G>A (p.Gly1523Glu) c.4385G>A (p.Gly1462Glu) c.4106G>A (p.Gly1369Glu) c.3149G>A (p.Gly1050Glu) c.3140G>A (p.Gly1047Glu) | |
| 5 | g.37016160G>C | CA359483124 | NIPBL | c.4766G>C (p.Gly1589Ala) c.1-48418G>C (n.1-48418G>C) c.4022G>C (p.Gly1341Ala) c.4568G>C (p.Gly1523Ala) c.4385G>C (p.Gly1462Ala) c.4106G>C (p.Gly1369Ala) c.3149G>C (p.Gly1050Ala) c.3140G>C (p.Gly1047Ala) | |
| 5 | g.37016160G>T | CA359483119 | NIPBL | c.4766G>T (p.Gly1589Val) c.1-48418G>T (n.1-48418G>T) c.4022G>T (p.Gly1341Val) c.4568G>T (p.Gly1523Val) c.4385G>T (p.Gly1462Val) c.4106G>T (p.Gly1369Val) c.3149G>T (p.Gly1050Val) c.3140G>T (p.Gly1047Val) | |
| 5 | g.37016160_37016161delinsTTTGTTAGGTAAGAGA | CA2695204340 | NIPBL | c.4766_4767delinsTTTGTTAGGTAAGAGA (p.Gly1589ValfsTer3) c.1-48418_1-48417delinsTTTGTTAGGTAAGAGA (n.1-48418_1-48417delinsTTTGTTAGGTAAGAGA) c.4022_4023delinsTTTGTTAGGTAAGAGA (p.Gly1341ValfsTer3) c.4568_4569delinsTTTGTTAGGTAAGAGA (p.Gly1523ValfsTer3) c.4385_4386delinsTTTGTTAGGTAAGAGA (p.Gly1462ValfsTer3) c.4106_4107delinsTTTGTTAGGTAAGAGA (p.Gly1369ValfsTer3) c.3149_3150delinsTTTGTTAGGTAAGAGA (p.Gly1050ValfsTer3) c.3140_3141delinsTTTGTTAGGTAAGAGA (p.Gly1047ValfsTer3) | |
| 5 | g.37016161G>A | CA443904513 | NIPBL | c.4767G>A (p.Gly1589=) c.1-48417G>A (n.1-48417G>A) c.4023G>A (p.Gly1341=) c.4569G>A (p.Gly1523=) c.4386G>A (p.Gly1462=) c.4107G>A (p.Gly1369=) c.3150G>A (p.Gly1050=) c.3141G>A (p.Gly1047=) | |
| 5 | g.37016161G>C | CA443904514 | NIPBL | c.4767G>C (p.Gly1589=) c.1-48417G>C (n.1-48417G>C) c.4023G>C (p.Gly1341=) c.4569G>C (p.Gly1523=) c.4386G>C (p.Gly1462=) c.4107G>C (p.Gly1369=) c.3150G>C (p.Gly1050=) c.3141G>C (p.Gly1047=) | |
| 5 | g.37016161G>T | CA443904515 | NIPBL | c.4767G>T (p.Gly1589=) c.1-48417G>T (n.1-48417G>T) c.4023G>T (p.Gly1341=) c.4569G>T (p.Gly1523=) c.4386G>T (p.Gly1462=) c.4107G>T (p.Gly1369=) c.3150G>T (p.Gly1050=) c.3141G>T (p.Gly1047=) | |
| 5 | g.37016162A>C | CA443904517 | NIPBL | c.4768A>C (p.Arg1590=) c.1-48416A>C (n.1-48416A>C) c.4024A>C (p.Arg1342=) c.4570A>C (p.Arg1524=) c.4387A>C (p.Arg1463=) c.4108A>C (p.Arg1370=) c.3151A>C (p.Arg1051=) c.3142A>C (p.Arg1048=) | |
| 5 | g.37016162A>G | CA359483126 | NIPBL | c.4768A>G (p.Arg1590Gly) c.1-48416A>G (n.1-48416A>G) c.4024A>G (p.Arg1342Gly) c.4570A>G (p.Arg1524Gly) c.4387A>G (p.Arg1463Gly) c.4108A>G (p.Arg1370Gly) c.3151A>G (p.Arg1051Gly) c.3142A>G (p.Arg1048Gly) | |
| 5 | g.37016162A>T | CA359483130 | NIPBL | c.4768A>T (p.Arg1590Ter) c.1-48416A>T (n.1-48416A>T) c.4024A>T (p.Arg1342Ter) c.4570A>T (p.Arg1524Ter) c.4387A>T (p.Arg1463Ter) c.4108A>T (p.Arg1370Ter) c.3151A>T (p.Arg1051Ter) c.3142A>T (p.Arg1048Ter) | |
| 5 | g.37016163G>A | CA359483133 | NIPBL | c.4769G>A (p.Arg1590Lys) c.1-48415G>A (n.1-48415G>A) c.4025G>A (p.Arg1342Lys) c.4571G>A (p.Arg1524Lys) c.4388G>A (p.Arg1463Lys) c.4109G>A (p.Arg1370Lys) c.3152G>A (p.Arg1051Lys) c.3143G>A (p.Arg1048Lys) | |
| 5 | g.37016163G>C | CA359483156 | NIPBL | c.4769G>C (p.Arg1590Thr) c.1-48415G>C (n.1-48415G>C) c.4025G>C (p.Arg1342Thr) c.4571G>C (p.Arg1524Thr) c.4388G>C (p.Arg1463Thr) c.4109G>C (p.Arg1370Thr) c.3152G>C (p.Arg1051Thr) c.3143G>C (p.Arg1048Thr) | |
| 5 | g.37016163G>T | CA359483163 | NIPBL | c.4769G>T (p.Arg1590Ile) c.1-48415G>T (n.1-48415G>T) c.4025G>T (p.Arg1342Ile) c.4571G>T (p.Arg1524Ile) c.4388G>T (p.Arg1463Ile) c.4109G>T (p.Arg1370Ile) c.3152G>T (p.Arg1051Ile) c.3143G>T (p.Arg1048Ile) | |
| 5 | g.37016164A>C | CA359483172 | NIPBL | c.4770A>C (p.Arg1590Ser) c.1-48414A>C (n.1-48414A>C) c.4026A>C (p.Arg1342Ser) c.4572A>C (p.Arg1524Ser) c.4389A>C (p.Arg1463Ser) c.4110A>C (p.Arg1370Ser) c.3153A>C (p.Arg1051Ser) c.3144A>C (p.Arg1048Ser) | |
| 5 | g.37016164A>G | CA443904518 | NIPBL | c.4770A>G (p.Arg1590=) c.1-48414A>G (n.1-48414A>G) c.4026A>G (p.Arg1342=) c.4572A>G (p.Arg1524=) c.4389A>G (p.Arg1463=) c.4110A>G (p.Arg1370=) c.3153A>G (p.Arg1051=) c.3144A>G (p.Arg1048=) | gnomAD v4 |
| 5 | g.37016164A>T | CA359483178 | NIPBL | c.4770A>T (p.Arg1590Ser) c.1-48414A>T (n.1-48414A>T) c.4026A>T (p.Arg1342Ser) c.4572A>T (p.Arg1524Ser) c.4389A>T (p.Arg1463Ser) c.4110A>T (p.Arg1370Ser) c.3153A>T (p.Arg1051Ser) c.3144A>T (p.Arg1048Ser) | |
| 5 | g.37016164_37016165del | CA2697547123 | NIPBL | c.4770_4771del (p.Arg1590SerfsTer8) c.1-48414_1-48413del (n.1-48414_1-48413del) c.4026_4027del (p.Arg1342SerfsTer8) c.4572_4573del (p.Arg1524SerfsTer8) c.4389_4390del (p.Arg1463SerfsTer8) c.4110_4111del (p.Arg1370SerfsTer8) c.3153_3154del (p.Arg1051SerfsTer8) c.3144_3145del (p.Arg1048SerfsTer8) | ClinVar |
| 5 | g.37016165C>A | CA359483183 | NIPBL | c.4771C>A (p.Leu1591Met) c.1-48413C>A (n.1-48413C>A) c.4027C>A (p.Leu1343Met) c.4573C>A (p.Leu1525Met) c.4390C>A (p.Leu1464Met) c.4111C>A (p.Leu1371Met) c.3154C>A (p.Leu1052Met) c.3145C>A (p.Leu1049Met) | |
| 5 | g.37016165C= | CA1539615796 | NIPBL | c.4771C= (p.Leu1591=) c.1-48413C= (n.1-48413C=) c.4027C= (p.Leu1343=) c.4573C= (p.Leu1525=) c.4390C= (p.Leu1464=) c.4111C= (p.Leu1371=) c.3154C= (p.Leu1052=) c.3145C= (p.Leu1049=) | |
| 5 | g.37016165C>G | CA359483202 | NIPBL | c.4771C>G (p.Leu1591Val) c.1-48413C>G (n.1-48413C>G) c.4027C>G (p.Leu1343Val) c.4573C>G (p.Leu1525Val) c.4390C>G (p.Leu1464Val) c.4111C>G (p.Leu1371Val) c.3154C>G (p.Leu1052Val) c.3145C>G (p.Leu1049Val) | |
| 5 | g.37016165C>T | CA443904520 | NIPBL | c.4771C>T (p.Leu1591=) c.1-48413C>T (n.1-48413C>T) c.4027C>T (p.Leu1343=) c.4573C>T (p.Leu1525=) c.4390C>T (p.Leu1464=) c.4111C>T (p.Leu1371=) c.3154C>T (p.Leu1052=) c.3145C>T (p.Leu1049=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37016166T>A | CA359483213 | NIPBL | c.4772T>A (p.Leu1591Gln) c.1-48412T>A (n.1-48412T>A) c.4028T>A (p.Leu1343Gln) c.4574T>A (p.Leu1525Gln) c.4391T>A (p.Leu1464Gln) c.4112T>A (p.Leu1371Gln) c.3155T>A (p.Leu1052Gln) c.3146T>A (p.Leu1049Gln) | |
| 5 | g.37016166T>C | CA359483216 | NIPBL | c.4772T>C (p.Leu1591Pro) c.1-48412T>C (n.1-48412T>C) c.4028T>C (p.Leu1343Pro) c.4574T>C (p.Leu1525Pro) c.4391T>C (p.Leu1464Pro) c.4112T>C (p.Leu1371Pro) c.3155T>C (p.Leu1052Pro) c.3146T>C (p.Leu1049Pro) | |
| 5 | g.37016166T>G | CA359483207 | NIPBL | c.4772T>G (p.Leu1591Arg) c.1-48412T>G (n.1-48412T>G) c.4028T>G (p.Leu1343Arg) c.4574T>G (p.Leu1525Arg) c.4391T>G (p.Leu1464Arg) c.4112T>G (p.Leu1371Arg) c.3155T>G (p.Leu1052Arg) c.3146T>G (p.Leu1049Arg) | |
| 5 | g.37016167G>A | CA443904525 | NIPBL | c.4773G>A (p.Leu1591=) c.1-48411G>A (n.1-48411G>A) c.4029G>A (p.Leu1343=) c.4575G>A (p.Leu1525=) c.4392G>A (p.Leu1464=) c.4113G>A (p.Leu1371=) c.3156G>A (p.Leu1052=) c.3147G>A (p.Leu1049=) | dbSNP |
| 5 | g.37016167G>C | CA443904523 | NIPBL | c.4773G>C (p.Leu1591=) c.1-48411G>C (n.1-48411G>C) c.4029G>C (p.Leu1343=) c.4575G>C (p.Leu1525=) c.4392G>C (p.Leu1464=) c.4113G>C (p.Leu1371=) c.3156G>C (p.Leu1052=) c.3147G>C (p.Leu1049=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.37016167G= | CA1539615800 | NIPBL | c.4773G= (p.Leu1591=) c.1-48411G= (n.1-48411G=) c.4029G= (p.Leu1343=) c.4575G= (p.Leu1525=) c.4392G= (p.Leu1464=) c.4113G= (p.Leu1371=) c.3156G= (p.Leu1052=) c.3147G= (p.Leu1049=) | |
| 5 | g.37016167G>T | CA172704 | NIPBL | c.4773G>T (p.Leu1591=) c.1-48411G>T (n.1-48411G>T) c.4029G>T (p.Leu1343=) c.4575G>T (p.Leu1525=) c.4392G>T (p.Leu1464=) c.4113G>T (p.Leu1371=) c.3156G>T (p.Leu1052=) c.3147G>T (p.Leu1049=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.37016168T>A | CA359483223 | NIPBL | c.4774T>A (p.Leu1592Met) c.1-48410T>A (n.1-48410T>A) c.4030T>A (p.Leu1344Met) c.4576T>A (p.Leu1526Met) c.4393T>A (p.Leu1465Met) c.4114T>A (p.Leu1372Met) c.3157T>A (p.Leu1053Met) c.3148T>A (p.Leu1050Met) | |
| 5 | g.37016168T>C | CA443904526 | NIPBL | c.4774T>C (p.Leu1592=) c.1-48410T>C (n.1-48410T>C) c.4030T>C (p.Leu1344=) c.4576T>C (p.Leu1526=) c.4393T>C (p.Leu1465=) c.4114T>C (p.Leu1372=) c.3157T>C (p.Leu1053=) c.3148T>C (p.Leu1050=) | |
| 5 | g.37016168T>G | CA359483228 | NIPBL | c.4774T>G (p.Leu1592Val) c.1-48410T>G (n.1-48410T>G) c.4030T>G (p.Leu1344Val) c.4576T>G (p.Leu1526Val) c.4393T>G (p.Leu1465Val) c.4114T>G (p.Leu1372Val) c.3157T>G (p.Leu1053Val) c.3148T>G (p.Leu1050Val) | |
| 5 | g.37016169T>A | CA359483231 | NIPBL | c.4775T>A (p.Leu1592Ter) c.1-48409T>A (n.1-48409T>A) c.4031T>A (p.Leu1344Ter) c.4577T>A (p.Leu1526Ter) c.4394T>A (p.Leu1465Ter) c.4115T>A (p.Leu1372Ter) c.3158T>A (p.Leu1053Ter) c.3149T>A (p.Leu1050Ter) | |
| 5 | g.37016169T>C | CA359483232 | NIPBL | c.4775T>C (p.Leu1592Ser) c.1-48409T>C (n.1-48409T>C) c.4031T>C (p.Leu1344Ser) c.4577T>C (p.Leu1526Ser) c.4394T>C (p.Leu1465Ser) c.4115T>C (p.Leu1372Ser) c.3158T>C (p.Leu1053Ser) c.3149T>C (p.Leu1050Ser) | |
| 5 | g.37016169T>G | CA359483233 | NIPBL | c.4775T>G (p.Leu1592Trp) c.1-48409T>G (n.1-48409T>G) c.4031T>G (p.Leu1344Trp) c.4577T>G (p.Leu1526Trp) c.4394T>G (p.Leu1465Trp) c.4115T>G (p.Leu1372Trp) c.3158T>G (p.Leu1053Trp) c.3149T>G (p.Leu1050Trp) | |
| 5 | g.37016170G>A | CA443904528 | NIPBL | c.4776G>A (p.Leu1592=) c.1-48408G>A (n.1-48408G>A) c.4032G>A (p.Leu1344=) c.4578G>A (p.Leu1526=) c.4395G>A (p.Leu1465=) c.4116G>A (p.Leu1372=) c.3159G>A (p.Leu1053=) c.3150G>A (p.Leu1050=) | |
| 5 | g.37016170G>C | CA359483234 | NIPBL | c.4776G>C (p.Leu1592Phe) c.1-48408G>C (n.1-48408G>C) c.4032G>C (p.Leu1344Phe) c.4578G>C (p.Leu1526Phe) c.4395G>C (p.Leu1465Phe) c.4116G>C (p.Leu1372Phe) c.3159G>C (p.Leu1053Phe) c.3150G>C (p.Leu1050Phe) | |
| 5 | g.37016170G>T | CA359483241 | NIPBL | c.4776G>T (p.Leu1592Phe) c.1-48408G>T (n.1-48408G>T) c.4032G>T (p.Leu1344Phe) c.4578G>T (p.Leu1526Phe) c.4395G>T (p.Leu1465Phe) c.4116G>T (p.Leu1372Phe) c.3159G>T (p.Leu1053Phe) c.3150G>T (p.Leu1050Phe) | |
| 5 | g.37016171G>A | CA359483250 | NIPBL | c.4776+1G>A (n.4776+1G>A) c.1-48407G>A (n.1-48407G>A) c.4032+1G>A (n.4032+1G>A) c.4578+1G>A (n.4578+1G>A) c.4395+1G>A (n.4395+1G>A) c.4116+1G>A (n.4116+1G>A) c.3159+1G>A (n.3159+1G>A) c.3150+1G>A (n.3150+1G>A) | |
| 5 | g.37016171G>C | CA359483254 | NIPBL | c.4776+1G>C (n.4776+1G>C) c.1-48407G>C (n.1-48407G>C) c.4032+1G>C (n.4032+1G>C) c.4578+1G>C (n.4578+1G>C) c.4395+1G>C (n.4395+1G>C) c.4116+1G>C (n.4116+1G>C) c.3159+1G>C (n.3159+1G>C) c.3150+1G>C (n.3150+1G>C) | |
| 5 | g.37016171G>T | CA359483255 | NIPBL | c.4776+1G>T (n.4776+1G>T) c.1-48407G>T (n.1-48407G>T) c.4032+1G>T (n.4032+1G>T) c.4578+1G>T (n.4578+1G>T) c.4395+1G>T (n.4395+1G>T) c.4116+1G>T (n.4116+1G>T) c.3159+1G>T (n.3159+1G>T) c.3150+1G>T (n.3150+1G>T) | |
| 5 | g.37016172T>A | CA359483259 | NIPBL | c.4776+2T>A (n.4776+2T>A) c.1-48406T>A (n.1-48406T>A) c.4032+2T>A (n.4032+2T>A) c.4578+2T>A (n.4578+2T>A) c.4395+2T>A (n.4395+2T>A) c.4116+2T>A (n.4116+2T>A) c.3159+2T>A (n.3159+2T>A) c.3150+2T>A (n.3150+2T>A) | |
| 5 | g.37016172T>C | CA359483272 | NIPBL | c.4776+2T>C (n.4776+2T>C) c.1-48406T>C (n.1-48406T>C) c.4032+2T>C (n.4032+2T>C) c.4578+2T>C (n.4578+2T>C) c.4395+2T>C (n.4395+2T>C) c.4116+2T>C (n.4116+2T>C) c.3159+2T>C (n.3159+2T>C) c.3150+2T>C (n.3150+2T>C) | |
| 5 | g.37016172T>G | CA359483274 | NIPBL | c.4776+2T>G (n.4776+2T>G) c.1-48406T>G (n.1-48406T>G) c.4032+2T>G (n.4032+2T>G) c.4578+2T>G (n.4578+2T>G) c.4395+2T>G (n.4395+2T>G) c.4116+2T>G (n.4116+2T>G) c.3159+2T>G (n.3159+2T>G) c.3150+2T>G (n.3150+2T>G) | |
| 5 | g.37016174A= | CA1539615807 | NIPBL | c.4776+4A= (n.4776+4A=) c.1-48404A= (n.1-48404A=) c.4032+4A= (n.4032+4A=) c.4578+4A= (n.4578+4A=) c.4395+4A= (n.4395+4A=) c.4116+4A= (n.4116+4A=) c.3159+4A= (n.3159+4A=) c.3150+4A= (n.3150+4A=) | |
| 5 | g.37016174A>G | CA205205 | NIPBL | c.4776+4A>G (n.4776+4A>G) c.1-48404A>G (n.1-48404A>G) c.4032+4A>G (n.4032+4A>G) c.4578+4A>G (n.4578+4A>G) c.4395+4A>G (n.4395+4A>G) c.4116+4A>G (n.4116+4A>G) c.3159+4A>G (n.3159+4A>G) c.3150+4A>G (n.3150+4A>G) | ClinVar dbSNP |
| 5 | g.37016176A= | CA1539615810 | NIPBL | c.4776+6A= (n.4776+6A=) c.1-48402A= (n.1-48402A=) c.4032+6A= (n.4032+6A=) c.4578+6A= (n.4578+6A=) c.4395+6A= (n.4395+6A=) c.4116+6A= (n.4116+6A=) c.3159+6A= (n.3159+6A=) c.3150+6A= (n.3150+6A=) | |
| 5 | g.37016176A>C | CA1539615811 | NIPBL | c.4776+6A>C (n.4776+6A>C) c.1-48402A>C (n.1-48402A>C) c.4032+6A>C (n.4032+6A>C) c.4578+6A>C (n.4578+6A>C) c.4395+6A>C (n.4395+6A>C) c.4116+6A>C (n.4116+6A>C) c.3159+6A>C (n.3159+6A>C) c.3150+6A>C (n.3150+6A>C) | dbSNP |
| 5 | g.37016176A>G | CA2673551278 | NIPBL | c.4776+6A>G (n.4776+6A>G) c.1-48402A>G (n.1-48402A>G) c.4032+6A>G (n.4032+6A>G) c.4578+6A>G (n.4578+6A>G) c.4395+6A>G (n.4395+6A>G) c.4116+6A>G (n.4116+6A>G) c.3159+6A>G (n.3159+6A>G) c.3150+6A>G (n.3150+6A>G) | gnomAD v4 |
| 5 | g.37016177G>C | CA559014377 | NIPBL | c.4776+7G>C (n.4776+7G>C) c.1-48401G>C (n.1-48401G>C) c.4032+7G>C (n.4032+7G>C) c.4578+7G>C (n.4578+7G>C) c.4395+7G>C (n.4395+7G>C) c.4116+7G>C (n.4116+7G>C) c.3159+7G>C (n.3159+7G>C) c.3150+7G>C (n.3150+7G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37016177G= | CA1539615813 | NIPBL | c.4776+7G= (n.4776+7G=) c.1-48401G= (n.1-48401G=) c.4032+7G= (n.4032+7G=) c.4578+7G= (n.4578+7G=) c.4395+7G= (n.4395+7G=) c.4116+7G= (n.4116+7G=) c.3159+7G= (n.3159+7G=) c.3150+7G= (n.3150+7G=) | |
| 5 | g.37016180_37016181dup | CA2673551280 | NIPBL | c.4776+10_4776+11dup (n.4776+10_4776+11dup) c.1-48398_1-48397dup (n.1-48398_1-48397dup) c.4032+10_4032+11dup (n.4032+10_4032+11dup) c.4578+10_4578+11dup (n.4578+10_4578+11dup) c.4395+10_4395+11dup (n.4395+10_4395+11dup) c.4116+10_4116+11dup (n.4116+10_4116+11dup) c.3159+10_3159+11dup (n.3159+10_3159+11dup) c.3150+10_3150+11dup (n.3150+10_3150+11dup) | gnomAD v4 |
| 5 | g.37016180_37016181del | CA2673551282 | NIPBL | c.4776+10_4776+11del (n.4776+10_4776+11del) c.1-48398_1-48397del (n.1-48398_1-48397del) c.4032+10_4032+11del (n.4032+10_4032+11del) c.4578+10_4578+11del (n.4578+10_4578+11del) c.4395+10_4395+11del (n.4395+10_4395+11del) c.4116+10_4116+11del (n.4116+10_4116+11del) c.3159+10_3159+11del (n.3159+10_3159+11del) c.3150+10_3150+11del (n.3150+10_3150+11del) | gnomAD v4 |
| 5 | g.37016179A= | CA1539615816 | NIPBL | c.4776+9A= (n.4776+9A=) c.1-48399A= (n.1-48399A=) c.4032+9A= (n.4032+9A=) c.4578+9A= (n.4578+9A=) c.4395+9A= (n.4395+9A=) c.4116+9A= (n.4116+9A=) c.3159+9A= (n.3159+9A=) c.3150+9A= (n.3150+9A=) | |
| 5 | g.37016179A>G | CA443904530 | NIPBL | c.4776+9A>G (n.4776+9A>G) c.1-48399A>G (n.1-48399A>G) c.4032+9A>G (n.4032+9A>G) c.4578+9A>G (n.4578+9A>G) c.4395+9A>G (n.4395+9A>G) c.4116+9A>G (n.4116+9A>G) c.3159+9A>G (n.3159+9A>G) c.3150+9A>G (n.3150+9A>G) | gnomAD v4 COSMIC COSMIC |
| 5 | g.37016179A>T | CA117025949 | NIPBL | c.4776+9A>T (n.4776+9A>T) c.1-48399A>T (n.1-48399A>T) c.4032+9A>T (n.4032+9A>T) c.4578+9A>T (n.4578+9A>T) c.4395+9A>T (n.4395+9A>T) c.4116+9A>T (n.4116+9A>T) c.3159+9A>T (n.3159+9A>T) c.3150+9A>T (n.3150+9A>T) | dbSNP gnomAD v4 |
| 5 | g.37016180T>A | CA810284963 | NIPBL | c.4776+10T>A (n.4776+10T>A) c.1-48398T>A (n.1-48398T>A) c.4032+10T>A (n.4032+10T>A) c.4578+10T>A (n.4578+10T>A) c.4395+10T>A (n.4395+10T>A) c.4116+10T>A (n.4116+10T>A) c.3159+10T>A (n.3159+10T>A) c.3150+10T>A (n.3150+10T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37016180T= | CA1539615819 | NIPBL | c.4776+10T= (n.4776+10T=) c.1-48398T= (n.1-48398T=) c.4032+10T= (n.4032+10T=) c.4578+10T= (n.4578+10T=) c.4395+10T= (n.4395+10T=) c.4116+10T= (n.4116+10T=) c.3159+10T= (n.3159+10T=) c.3150+10T= (n.3150+10T=) | |
| 5 | g.37016181del | CA2673551290 | NIPBL | c.4776+11del (n.4776+11del) c.1-48397del (n.1-48397del) c.4032+11del (n.4032+11del) c.4578+11del (n.4578+11del) c.4395+11del (n.4395+11del) c.4116+11del (n.4116+11del) c.3159+11del (n.3159+11del) c.3150+11del (n.3150+11del) | gnomAD v4 |
| 5 | g.37016181A= | CA1539615820 | NIPBL | c.4776+11A= (n.4776+11A=) c.1-48397A= (n.1-48397A=) c.4032+11A= (n.4032+11A=) c.4578+11A= (n.4578+11A=) c.4395+11A= (n.4395+11A=) c.4116+11A= (n.4116+11A=) c.3159+11A= (n.3159+11A=) c.3150+11A= (n.3150+11A=) | |
| 5 | g.37016181_37016182insTTAT | CA3236622 | NIPBL | c.4776+11_4776+12insTTAT (n.4776+11_4776+12insTTAT) c.1-48397_1-48396insTTAT (n.1-48397_1-48396insTTAT) c.4032+11_4032+12insTTAT (n.4032+11_4032+12insTTAT) c.4578+11_4578+12insTTAT (n.4578+11_4578+12insTTAT) c.4395+11_4395+12insTTAT (n.4395+11_4395+12insTTAT) c.4116+11_4116+12insTTAT (n.4116+11_4116+12insTTAT) c.3159+11_3159+12insTTAT (n.3159+11_3159+12insTTAT) c.3150+11_3150+12insTTAT (n.3150+11_3150+12insTTAT) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37016182G>A | CA3236623 | NIPBL | c.4776+12G>A (n.4776+12G>A) c.1-48396G>A (n.1-48396G>A) c.4032+12G>A (n.4032+12G>A) c.4578+12G>A (n.4578+12G>A) c.4395+12G>A (n.4395+12G>A) c.4116+12G>A (n.4116+12G>A) c.3159+12G>A (n.3159+12G>A) c.3150+12G>A (n.3150+12G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37016182G= | CA1539615822 | NIPBL | c.4776+12G= (n.4776+12G=) c.1-48396G= (n.1-48396G=) c.4032+12G= (n.4032+12G=) c.4578+12G= (n.4578+12G=) c.4395+12G= (n.4395+12G=) c.4116+12G= (n.4116+12G=) c.3159+12G= (n.3159+12G=) c.3150+12G= (n.3150+12G=) | |
| 5 | g.37016182G>T | CA2673551295 | NIPBL | c.4776+12G>T (n.4776+12G>T) c.1-48396G>T (n.1-48396G>T) c.4032+12G>T (n.4032+12G>T) c.4578+12G>T (n.4578+12G>T) c.4395+12G>T (n.4395+12G>T) c.4116+12G>T (n.4116+12G>T) c.3159+12G>T (n.3159+12G>T) c.3150+12G>T (n.3150+12G>T) | gnomAD v4 |
| 5 | g.37016183C>T | CA2673551297 | NIPBL | c.4776+13C>T (n.4776+13C>T) c.1-48395C>T (n.1-48395C>T) c.4032+13C>T (n.4032+13C>T) c.4578+13C>T (n.4578+13C>T) c.4395+13C>T (n.4395+13C>T) c.4116+13C>T (n.4116+13C>T) c.3159+13C>T (n.3159+13C>T) c.3150+13C>T (n.3150+13C>T) | gnomAD v4 |
| 5 | g.37016186_37016187insACCA | CA2673551298 | NIPBL | c.4776+16_4776+17insACCA (n.4776+16_4776+17insACCA) c.1-48392_1-48391insACCA (n.1-48392_1-48391insACCA) c.4032+16_4032+17insACCA (n.4032+16_4032+17insACCA) c.4578+16_4578+17insACCA (n.4578+16_4578+17insACCA) c.4395+16_4395+17insACCA (n.4395+16_4395+17insACCA) c.4116+16_4116+17insACCA (n.4116+16_4116+17insACCA) c.3159+16_3159+17insACCA (n.3159+16_3159+17insACCA) c.3150+16_3150+17insACCA (n.3150+16_3150+17insACCA) | gnomAD v4 |
| 5 | g.37016188A>C | CA649810795 | NIPBL | c.4776+18A>C (n.4776+18A>C) c.1-48390A>C (n.1-48390A>C) c.4032+18A>C (n.4032+18A>C) c.4578+18A>C (n.4578+18A>C) c.4395+18A>C (n.4395+18A>C) c.4116+18A>C (n.4116+18A>C) c.3159+18A>C (n.3159+18A>C) c.3150+18A>C (n.3150+18A>C) | COSMIC |