Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.36976279C>ACA359486942NIPBLc.1372C>A (p.Gln458Lys)
c.628C>A (p.Gln210Lys)
c.712C>A (p.Gln238Lys)
n.992C>A
c.1-88299C>A (p.=)
5g.36976279C>GCA359486945NIPBLc.1372C>G (p.Gln458Glu)
c.628C>G (p.Gln210Glu)
c.712C>G (p.Gln238Glu)
n.992C>G
c.1-88299C>G (p.=)
5g.36976279C>TCA271967NIPBLc.1372C>T (p.Gln458Ter)
c.628C>T (p.Gln210Ter)
c.712C>T (p.Gln238Ter)
n.992C>T
c.1-88299C>T (p.=)
ClinVar dbSNP
5g.36976280A>CCA359486948NIPBLc.1373A>C (p.Gln458Pro)
c.629A>C (p.Gln210Pro)
c.713A>C (p.Gln238Pro)
n.993A>C
c.1-88298A>C (p.=)
5g.36976280A>GCA359486951NIPBLc.1373A>G (p.Gln458Arg)
c.629A>G (p.Gln210Arg)
c.713A>G (p.Gln238Arg)
n.993A>G
c.1-88298A>G (p.=)
5g.36976280A>TCA359486954NIPBLc.1373A>T (p.Gln458Leu)
c.629A>T (p.Gln210Leu)
c.713A>T (p.Gln238Leu)
n.993A>T
c.1-88298A>T (p.=)
5g.36976281G>ACA444095596NIPBLc.1374G>A (p.Gln458=)
c.630G>A (p.Gln210=)
c.714G>A (p.Gln238=)
n.994G>A
c.1-88297G>A (p.=)
5g.36976281G>CCA359486958NIPBLc.1374G>C (p.Gln458His)
c.630G>C (p.Gln210His)
c.714G>C (p.Gln238His)
n.994G>C
c.1-88297G>C (p.=)
gnomAD
5g.36976281G>TCA359486960NIPBLc.1374G>T (p.Gln458His)
c.630G>T (p.Gln210His)
c.714G>T (p.Gln238His)
n.994G>T
c.1-88297G>T (p.=)
5g.36976282A>CCA359486963NIPBLc.1375A>C (p.Ile459Leu)
c.631A>C (p.Ile211Leu)
c.715A>C (p.Ile239Leu)
n.995A>C
c.1-88296A>C (p.=)
5g.36976282A>GCA359486964NIPBLc.1375A>G (p.Ile459Val)
c.631A>G (p.Ile211Val)
c.715A>G (p.Ile239Val)
n.995A>G
c.1-88296A>G (p.=)
5g.36976282A>TCA359486965NIPBLc.1375A>T (p.Ile459Leu)
c.631A>T (p.Ile211Leu)
c.715A>T (p.Ile239Leu)
n.995A>T
c.1-88296A>T (p.=)
5g.36976283T>ACA359486968NIPBLc.1376T>A (p.Ile459Lys)
c.632T>A (p.Ile211Lys)
c.716T>A (p.Ile239Lys)
n.996T>A
c.1-88295T>A (p.=)
5g.36976283T>CCA359486970NIPBLc.1376T>C (p.Ile459Thr)
c.632T>C (p.Ile211Thr)
c.716T>C (p.Ile239Thr)
n.996T>C
c.1-88295T>C (p.=)
5g.36976283T>GCA3236020NIPBLc.1376T>G (p.Ile459Arg)
c.632T>G (p.Ile211Arg)
c.716T>G (p.Ile239Arg)
n.996T>G
c.1-88295T>G (p.=)
ClinVar dbSNP ExAC gnomAD
5g.36976284A>CCA3236021NIPBLc.1377A>C (p.Ile459=)
c.633A>C (p.Ile211=)
c.717A>C (p.Ile239=)
n.997A>C
c.1-88294A>C (p.=)
dbSNP ExAC gnomAD
5g.36976284A>GCA359486976NIPBLc.1377A>G (p.Ile459Met)
c.633A>G (p.Ile211Met)
c.717A>G (p.Ile239Met)
n.997A>G
c.1-88294A>G (p.=)
5g.36976284A>TCA444095599NIPBLc.1377A>T (p.Ile459=)
c.633A>T (p.Ile211=)
c.717A>T (p.Ile239=)
n.997A>T
c.1-88294A>T (p.=)
5g.36976285T>ACA359486983NIPBLc.1378T>A (p.Ser460Thr)
c.634T>A (p.Ser212Thr)
c.718T>A (p.Ser240Thr)
n.998T>A
c.1-88293T>A (p.=)
5g.36976285T>CCA359486988NIPBLc.1378T>C (p.Ser460Pro)
c.634T>C (p.Ser212Pro)
c.718T>C (p.Ser240Pro)
n.998T>C
c.1-88293T>C (p.=)
5g.36976285T>GCA359486985NIPBLc.1378T>G (p.Ser460Ala)
c.634T>G (p.Ser212Ala)
c.718T>G (p.Ser240Ala)
n.998T>G
c.1-88293T>G (p.=)
5g.36976286C>ACA359486991NIPBLc.1379C>A (p.Ser460Ter)
c.635C>A (p.Ser212Ter)
c.719C>A (p.Ser240Ter)
n.999C>A
c.1-88292C>A (p.=)
5g.36976286C>GCA359486993NIPBLc.1379C>G (p.Ser460Ter)
c.635C>G (p.Ser212Ter)
c.719C>G (p.Ser240Ter)
n.999C>G
c.1-88292C>G (p.=)
5g.36976286C>TCA359486998NIPBLc.1379C>T (p.Ser460Leu)
c.635C>T (p.Ser212Leu)
c.719C>T (p.Ser240Leu)
n.999C>T
c.1-88292C>T (p.=)
5g.36976287A>CCA444095602NIPBLc.1380A>C (p.Ser460=)
c.636A>C (p.Ser212=)
c.720A>C (p.Ser240=)
n.1000A>C
c.1-88291A>C (p.=)
5g.36976287A>GCA444095604NIPBLc.1380A>G (p.Ser460=)
c.636A>G (p.Ser212=)
c.720A>G (p.Ser240=)
n.1000A>G
c.1-88291A>G (p.=)
5g.36976287A>TCA444095605NIPBLc.1380A>T (p.Ser460=)
c.636A>T (p.Ser212=)
c.720A>T (p.Ser240=)
n.1000A>T
c.1-88291A>T (p.=)
5g.36976288C>ACA359487002NIPBLc.1381C>A (p.Gln461Lys)
c.637C>A (p.Gln213Lys)
c.721C>A (p.Gln241Lys)
n.1001C>A
c.1-88290C>A (p.=)
5g.36976288C>GCA359487005NIPBLc.1381C>G (p.Gln461Glu)
c.637C>G (p.Gln213Glu)
c.721C>G (p.Gln241Glu)
n.1001C>G
c.1-88290C>G (p.=)
5g.36976288C>TCA359487007NIPBLc.1381C>T (p.Gln461Ter)
c.637C>T (p.Gln213Ter)
c.721C>T (p.Gln241Ter)
n.1001C>T
c.1-88290C>T (p.=)
5g.36976289A>CCA359487008NIPBLc.1382A>C (p.Gln461Pro)
c.638A>C (p.Gln213Pro)
c.722A>C (p.Gln241Pro)
n.1002A>C
c.1-88289A>C (p.=)
5g.36976289A>GCA359487009NIPBLc.1382A>G (p.Gln461Arg)
c.638A>G (p.Gln213Arg)
c.722A>G (p.Gln241Arg)
n.1002A>G
c.1-88289A>G (p.=)
5g.36976289A>TCA359487010NIPBLc.1382A>T (p.Gln461Leu)
c.638A>T (p.Gln213Leu)
c.722A>T (p.Gln241Leu)
n.1002A>T
c.1-88289A>T (p.=)
gnomAD
5g.36976290A>CCA359487013NIPBLc.1383A>C (p.Gln461His)
c.639A>C (p.Gln213His)
c.723A>C (p.Gln241His)
n.1003A>C
c.1-88288A>C (p.=)
5g.36976290A>GCA444095607NIPBLc.1383A>G (p.Gln461=)
c.639A>G (p.Gln213=)
c.723A>G (p.Gln241=)
n.1003A>G
c.1-88288A>G (p.=)
gnomAD
5g.36976290A>TCA359487016NIPBLc.1383A>T (p.Gln461His)
c.639A>T (p.Gln213His)
c.723A>T (p.Gln241His)
n.1003A>T
c.1-88288A>T (p.=)
5g.36976291C>ACA359487024NIPBLc.1384C>A (p.Gln462Lys)
c.640C>A (p.Gln214Lys)
c.724C>A (p.Gln242Lys)
n.1004C>A
c.1-88287C>A (p.=)
5g.36976291C>GCA359487026NIPBLc.1384C>G (p.Gln462Glu)
c.640C>G (p.Gln214Glu)
c.724C>G (p.Gln242Glu)
n.1004C>G
c.1-88287C>G (p.=)
5g.36976291C>TCA359487020NIPBLc.1384C>T (p.Gln462Ter)
c.640C>T (p.Gln214Ter)
c.724C>T (p.Gln242Ter)
n.1004C>T
c.1-88287C>T (p.=)
5g.36976292A>CCA359487033NIPBLc.1385A>C (p.Gln462Pro)
c.641A>C (p.Gln214Pro)
c.725A>C (p.Gln242Pro)
n.1005A>C
c.1-88286A>C (p.=)
5g.36976292A>GCA359487031NIPBLc.1385A>G (p.Gln462Arg)
c.641A>G (p.Gln214Arg)
c.725A>G (p.Gln242Arg)
n.1005A>G
c.1-88286A>G (p.=)
5g.36976292A>TCA359487036NIPBLc.1385A>T (p.Gln462Leu)
c.641A>T (p.Gln214Leu)
c.725A>T (p.Gln242Leu)
n.1005A>T
c.1-88286A>T (p.=)
5g.36976293G>ACA444095611NIPBLc.1386G>A (p.Gln462=)
c.642G>A (p.Gln214=)
c.726G>A (p.Gln242=)
n.1006G>A
c.1-88285G>A (p.=)
5g.36976293G>CCA359487042NIPBLc.1386G>C (p.Gln462His)
c.642G>C (p.Gln214His)
c.726G>C (p.Gln242His)
n.1006G>C
c.1-88285G>C (p.=)
5g.36976293G>TCA359487045NIPBLc.1386G>T (p.Gln462His)
c.642G>T (p.Gln214His)
c.726G>T (p.Gln242His)
n.1006G>T
c.1-88285G>T (p.=)
5g.36976294G>ACA359487052NIPBLc.1387G>A (p.Gly463Arg)
c.643G>A (p.Gly215Arg)
c.727G>A (p.Gly243Arg)
n.1007G>A
c.1-88284G>A (p.=)
gnomAD
5g.36976294G>CCA359487059NIPBLc.1387G>C (p.Gly463Arg)
c.643G>C (p.Gly215Arg)
c.727G>C (p.Gly243Arg)
n.1007G>C
c.1-88284G>C (p.=)
5g.36976294G>TCA359487056NIPBLc.1387G>T (p.Gly463Ter)
c.643G>T (p.Gly215Ter)
c.727G>T (p.Gly243Ter)
n.1007G>T
c.1-88284G>T (p.=)
5g.36976295G>ACA359487066NIPBLc.1388G>A (p.Gly463Glu)
c.644G>A (p.Gly215Glu)
c.728G>A (p.Gly243Glu)
n.1008G>A
c.1-88283G>A (p.=)
5g.36976295G>CCA359487071NIPBLc.1388G>C (p.Gly463Ala)
c.644G>C (p.Gly215Ala)
c.728G>C (p.Gly243Ala)
n.1008G>C
c.1-88283G>C (p.=)

Number of alleles fetched