| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.36976102C>A | CA359485763 | NIPBL | c.1195C>A (p.Gln399Lys) n.815C>A c.1-88476C>A (n.1-88476C>A) c.451C>A (p.Gln151Lys) c.535C>A (p.Gln179Lys) | |
| 5 | g.36976102C>G | CA359485765 | NIPBL | c.1195C>G (p.Gln399Glu) n.815C>G c.1-88476C>G (n.1-88476C>G) c.451C>G (p.Gln151Glu) c.535C>G (p.Gln179Glu) | |
| 5 | g.36976102C>T | CA359485768 | NIPBL | c.1195C>T (p.Gln399Ter) n.815C>T c.1-88476C>T (n.1-88476C>T) c.451C>T (p.Gln151Ter) c.535C>T (p.Gln179Ter) | |
| 5 | g.36976103A= | CA1539569412 | NIPBL | c.1196A= (p.Gln399=) n.816A= c.1-88475A= (n.1-88475A=) c.452A= (p.Gln151=) c.536A= (p.Gln179=) | |
| 5 | g.36976103A>C | CA359485773 | NIPBL | c.1196A>C (p.Gln399Pro) n.816A>C c.1-88475A>C (n.1-88475A>C) c.452A>C (p.Gln151Pro) c.536A>C (p.Gln179Pro) | |
| 5 | g.36976103A>G | CA359485774 | NIPBL | c.1196A>G (p.Gln399Arg) n.816A>G c.1-88475A>G (n.1-88475A>G) c.452A>G (p.Gln151Arg) c.536A>G (p.Gln179Arg) | |
| 5 | g.36976103A>T | CA359485782 | NIPBL | c.1196A>T (p.Gln399Leu) n.816A>T c.1-88475A>T (n.1-88475A>T) c.452A>T (p.Gln151Leu) c.536A>T (p.Gln179Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.36976104G>A | CA444095040 | NIPBL | c.1197G>A (p.Gln399=) n.817G>A c.1-88474G>A (n.1-88474G>A) c.453G>A (p.Gln151=) c.537G>A (p.Gln179=) | |
| 5 | g.36976104G>C | CA359485786 | NIPBL | c.1197G>C (p.Gln399His) n.817G>C c.1-88474G>C (n.1-88474G>C) c.453G>C (p.Gln151His) c.537G>C (p.Gln179His) | |
| 5 | g.36976104G>T | CA359485788 | NIPBL | c.1197G>T (p.Gln399His) n.817G>T c.1-88474G>T (n.1-88474G>T) c.453G>T (p.Gln151His) c.537G>T (p.Gln179His) | |
| 5 | g.36976105A>C | CA359485793 | NIPBL | c.1198A>C (p.Thr400Pro) n.818A>C c.1-88473A>C (n.1-88473A>C) c.454A>C (p.Thr152Pro) c.538A>C (p.Thr180Pro) | |
| 5 | g.36976105A>G | CA359485797 | NIPBL | c.1198A>G (p.Thr400Ala) n.818A>G c.1-88473A>G (n.1-88473A>G) c.454A>G (p.Thr152Ala) c.538A>G (p.Thr180Ala) | |
| 5 | g.36976105A>T | CA359485800 | NIPBL | c.1198A>T (p.Thr400Ser) n.818A>T c.1-88473A>T (n.1-88473A>T) c.454A>T (p.Thr152Ser) c.538A>T (p.Thr180Ser) | |
| 5 | g.36976106C>A | CA359485805 | NIPBL | c.1199C>A (p.Thr400Asn) n.819C>A c.1-88472C>A (n.1-88472C>A) c.455C>A (p.Thr152Asn) c.539C>A (p.Thr180Asn) | |
| 5 | g.36976106C>G | CA359485809 | NIPBL | c.1199C>G (p.Thr400Ser) n.819C>G c.1-88472C>G (n.1-88472C>G) c.455C>G (p.Thr152Ser) c.539C>G (p.Thr180Ser) | |
| 5 | g.36976106C>T | CA359485802 | NIPBL | c.1199C>T (p.Thr400Ile) n.819C>T c.1-88472C>T (n.1-88472C>T) c.455C>T (p.Thr152Ile) c.539C>T (p.Thr180Ile) | |
| 5 | g.36976107T>A | CA444095047 | NIPBL | c.1200T>A (p.Thr400=) n.820T>A c.1-88471T>A (n.1-88471T>A) c.456T>A (p.Thr152=) c.540T>A (p.Thr180=) | |
| 5 | g.36976107T>C | CA444095049 | NIPBL | c.1200T>C (p.Thr400=) n.820T>C c.1-88471T>C (n.1-88471T>C) c.456T>C (p.Thr152=) c.540T>C (p.Thr180=) | |
| 5 | g.36976107T>G | CA444095052 | NIPBL | c.1200T>G (p.Thr400=) n.820T>G c.1-88471T>G (n.1-88471T>G) c.456T>G (p.Thr152=) c.540T>G (p.Thr180=) | |
| 5 | g.36976108T>A | CA359485821 | NIPBL | c.1201T>A (p.Ser401Thr) n.821T>A c.1-88470T>A (n.1-88470T>A) c.457T>A (p.Ser153Thr) c.541T>A (p.Ser181Thr) | |
| 5 | g.36976108T>C | CA359485814 | NIPBL | c.1201T>C (p.Ser401Pro) n.821T>C c.1-88470T>C (n.1-88470T>C) c.457T>C (p.Ser153Pro) c.541T>C (p.Ser181Pro) | gnomAD v4 |
| 5 | g.36976108T>G | CA359485817 | NIPBL | c.1201T>G (p.Ser401Ala) n.821T>G c.1-88470T>G (n.1-88470T>G) c.457T>G (p.Ser153Ala) c.541T>G (p.Ser181Ala) | |
| 5 | g.36976109C>A | CA359485824 | NIPBL | c.1202C>A (p.Ser401Ter) n.822C>A c.1-88469C>A (n.1-88469C>A) c.458C>A (p.Ser153Ter) c.542C>A (p.Ser181Ter) | |
| 5 | g.36976109C= | CA1539569416 | NIPBL | c.1202C= (p.Ser401=) n.822C= c.1-88469C= (n.1-88469C=) c.458C= (p.Ser153=) c.542C= (p.Ser181=) | |
| 5 | g.36976109C>G | CA359485826 | NIPBL | c.1202C>G (p.Ser401Ter) n.822C>G c.1-88469C>G (n.1-88469C>G) c.458C>G (p.Ser153Ter) c.542C>G (p.Ser181Ter) | |
| 5 | g.36976109C>T | CA117031790 | NIPBL | c.1202C>T (p.Ser401Leu) n.822C>T c.1-88469C>T (n.1-88469C>T) c.458C>T (p.Ser153Leu) c.542C>T (p.Ser181Leu) | ClinVar dbSNP gnomAD v4 |
| 5 | g.36976110A>C | CA444095059 | NIPBL | c.1203A>C (p.Ser401=) n.823A>C c.1-88468A>C (n.1-88468A>C) c.459A>C (p.Ser153=) c.543A>C (p.Ser181=) | |
| 5 | g.36976110A>G | CA444095062 | NIPBL | c.1203A>G (p.Ser401=) n.823A>G c.1-88468A>G (n.1-88468A>G) c.459A>G (p.Ser153=) c.543A>G (p.Ser181=) | |
| 5 | g.36976110A>T | CA444095061 | NIPBL | c.1203A>T (p.Ser401=) n.823A>T c.1-88468A>T (n.1-88468A>T) c.459A>T (p.Ser153=) c.543A>T (p.Ser181=) | |
| 5 | g.36976111A= | CA1539569418 | NIPBL | c.1204A= (p.Lys402=) n.824A= c.1-88467A= (n.1-88467A=) c.460A= (p.Lys154=) c.544A= (p.Lys182=) | |
| 5 | g.36976111A>C | CA359485831 | NIPBL | c.1204A>C (p.Lys402Gln) n.824A>C c.1-88467A>C (n.1-88467A>C) c.460A>C (p.Lys154Gln) c.544A>C (p.Lys182Gln) | |
| 5 | g.36976111A>G | CA359485833 | NIPBL | c.1204A>G (p.Lys402Glu) n.824A>G c.1-88467A>G (n.1-88467A>G) c.460A>G (p.Lys154Glu) c.544A>G (p.Lys182Glu) | dbSNP gnomAD v4 |
| 5 | g.36976111A>T | CA359485836 | NIPBL | c.1204A>T (p.Lys402Ter) n.824A>T c.1-88467A>T (n.1-88467A>T) c.460A>T (p.Lys154Ter) c.544A>T (p.Lys182Ter) | |
| 5 | g.36976112A>C | CA359485839 | NIPBL | c.1205A>C (p.Lys402Thr) n.825A>C c.1-88466A>C (n.1-88466A>C) c.461A>C (p.Lys154Thr) c.545A>C (p.Lys182Thr) | |
| 5 | g.36976112A>G | CA359485841 | NIPBL | c.1205A>G (p.Lys402Arg) n.825A>G c.1-88466A>G (n.1-88466A>G) c.461A>G (p.Lys154Arg) c.545A>G (p.Lys182Arg) | |
| 5 | g.36976112A>T | CA359485842 | NIPBL | c.1205A>T (p.Lys402Ile) n.825A>T c.1-88466A>T (n.1-88466A>T) c.461A>T (p.Lys154Ile) c.545A>T (p.Lys182Ile) | |
| 5 | g.36976113A>C | CA359485845 | NIPBL | c.1206A>C (p.Lys402Asn) n.826A>C c.1-88465A>C (n.1-88465A>C) c.462A>C (p.Lys154Asn) c.546A>C (p.Lys182Asn) | |
| 5 | g.36976113A>G | CA444095069 | NIPBL | c.1206A>G (p.Lys402=) n.826A>G c.1-88465A>G (n.1-88465A>G) c.462A>G (p.Lys154=) c.546A>G (p.Lys182=) | |
| 5 | g.36976113A>T | CA359485847 | NIPBL | c.1206A>T (p.Lys402Asn) n.826A>T c.1-88465A>T (n.1-88465A>T) c.462A>T (p.Lys154Asn) c.546A>T (p.Lys182Asn) | |
| 5 | g.36976114A= | CA1539569420 | NIPBL | c.1207A= (p.Thr403=) n.827A= c.1-88464A= (n.1-88464A=) c.463A= (p.Thr155=) c.547A= (p.Thr183=) | |
| 5 | g.36976114A>C | CA359485852 | NIPBL | c.1207A>C (p.Thr403Pro) n.827A>C c.1-88464A>C (n.1-88464A>C) c.463A>C (p.Thr155Pro) c.547A>C (p.Thr183Pro) | |
| 5 | g.36976114A>G | CA359485856 | NIPBL | c.1207A>G (p.Thr403Ala) n.827A>G c.1-88464A>G (n.1-88464A>G) c.463A>G (p.Thr155Ala) c.547A>G (p.Thr183Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.36976114A>T | CA359485855 | NIPBL | c.1207A>T (p.Thr403Ser) n.827A>T c.1-88464A>T (n.1-88464A>T) c.463A>T (p.Thr155Ser) c.547A>T (p.Thr183Ser) | |
| 5 | g.36976115C>A | CA359485861 | NIPBL | c.1208C>A (p.Thr403Lys) n.828C>A c.1-88463C>A (n.1-88463C>A) c.464C>A (p.Thr155Lys) c.548C>A (p.Thr183Lys) | |
| 5 | g.36976115C= | CA1539569428 | NIPBL | c.1208C= (p.Thr403=) n.828C= c.1-88463C= (n.1-88463C=) c.464C= (p.Thr155=) c.548C= (p.Thr183=) | |
| 5 | g.36976115C>G | CA359485864 | NIPBL | c.1208C>G (p.Thr403Arg) n.828C>G c.1-88463C>G (n.1-88463C>G) c.464C>G (p.Thr155Arg) c.548C>G (p.Thr183Arg) | |
| 5 | g.36976115C>T | CA3235991 | NIPBL | c.1208C>T (p.Thr403Ile) n.828C>T c.1-88463C>T (n.1-88463C>T) c.464C>T (p.Thr155Ile) c.548C>T (p.Thr183Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.36976116A>C | CA444095071 | NIPBL | c.1209A>C (p.Thr403=) n.829A>C c.1-88462A>C (n.1-88462A>C) c.465A>C (p.Thr155=) c.549A>C (p.Thr183=) | |
| 5 | g.36976116A>G | CA444095072 | NIPBL | c.1209A>G (p.Thr403=) n.829A>G c.1-88462A>G (n.1-88462A>G) c.465A>G (p.Thr155=) c.549A>G (p.Thr183=) | |
| 5 | g.36976116A>T | CA444095073 | NIPBL | c.1209A>T (p.Thr403=) n.829A>T c.1-88462A>T (n.1-88462A>T) c.465A>T (p.Thr155=) c.549A>T (p.Thr183=) |