| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) |