Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.36985602C>ACA444095882NIPBLc.2422C>A (p.Arg808=)
n.2042C>A
c.1-78976C>A (p.=)
c.1678C>A (p.Arg560=)
c.1762C>A (p.Arg588=)
c.805C>A (p.Arg269=)
c.1495+9200C>A (p.=)
5g.36985602C=CA1539582158NIPBLc.2422C= (p.Arg808=)
n.2042C=
c.1-78976C= (p.=)
c.1678C= (p.Arg560=)
c.1762C= (p.Arg588=)
c.805C= (p.Arg269=)
c.1495+9200C= (p.=)
5g.36985602C>GCA359501182NIPBLc.2422C>G (p.Arg808Gly)
n.2042C>G
c.1-78976C>G (p.=)
c.1678C>G (p.Arg560Gly)
c.1762C>G (p.Arg588Gly)
c.805C>G (p.Arg269Gly)
c.1495+9200C>G (p.=)
5g.36985602C>TCA272012NIPBLc.2422C>T (p.Arg808Ter)
n.2042C>T
c.1-78976C>T (p.=)
c.1678C>T (p.Arg560Ter)
c.1762C>T (p.Arg588Ter)
c.805C>T (p.Arg269Ter)
c.1495+9200C>T (p.=)
ClinVar dbSNP
5g.36985603G>ACA117044526NIPBLc.2423G>A (p.Arg808Gln)
n.2043G>A
c.1-78975G>A (p.=)
c.1679G>A (p.Arg560Gln)
c.1763G>A (p.Arg588Gln)
c.806G>A (p.Arg269Gln)
c.1495+9201G>A (p.=)
ClinVar dbSNP gnomAD
5g.36985603G>CCA3236168NIPBLc.2423G>C (p.Arg808Pro)
n.2043G>C
c.1-78975G>C (p.=)
c.1679G>C (p.Arg560Pro)
c.1763G>C (p.Arg588Pro)
c.806G>C (p.Arg269Pro)
c.1495+9201G>C (p.=)
dbSNP ExAC gnomAD
5g.36985603G=CA1539582169NIPBLc.2423G= (p.Arg808=)
n.2043G=
c.1-78975G= (p.=)
c.1679G= (p.Arg560=)
c.1763G= (p.Arg588=)
c.806G= (p.Arg269=)
c.1495+9201G= (p.=)
5g.36985603G>TCA359501186NIPBLc.2423G>T (p.Arg808Leu)
n.2043G>T
c.1-78975G>T (p.=)
c.1679G>T (p.Arg560Leu)
c.1763G>T (p.Arg588Leu)
c.806G>T (p.Arg269Leu)
c.1495+9201G>T (p.=)
5g.36985604A>CCA444095884NIPBLc.2424A>C (p.Arg808=)
n.2044A>C
c.1-78974A>C (p.=)
c.1680A>C (p.Arg560=)
c.1764A>C (p.Arg588=)
c.807A>C (p.Arg269=)
c.1495+9202A>C (p.=)
5g.36985604A>GCA444095886NIPBLc.2424A>G (p.Arg808=)
n.2044A>G
c.1-78974A>G (p.=)
c.1680A>G (p.Arg560=)
c.1764A>G (p.Arg588=)
c.807A>G (p.Arg269=)
c.1495+9202A>G (p.=)
5g.36985604A>TCA444095885NIPBLc.2424A>T (p.Arg808=)
n.2044A>T
c.1-78974A>T (p.=)
c.1680A>T (p.Arg560=)
c.1764A>T (p.Arg588=)
c.807A>T (p.Arg269=)
c.1495+9202A>T (p.=)
5g.36985605T>ACA359501189NIPBLc.2425T>A (p.Ser809Thr)
n.2045T>A
c.1-78973T>A (p.=)
c.1681T>A (p.Ser561Thr)
c.1765T>A (p.Ser589Thr)
c.808T>A (p.Ser270Thr)
c.1495+9203T>A (p.=)
5g.36985605T>CCA359501190NIPBLc.2425T>C (p.Ser809Pro)
n.2045T>C
c.1-78973T>C (p.=)
c.1681T>C (p.Ser561Pro)
c.1765T>C (p.Ser589Pro)
c.808T>C (p.Ser270Pro)
c.1495+9203T>C (p.=)
5g.36985605T>GCA359501192NIPBLc.2425T>G (p.Ser809Ala)
n.2045T>G
c.1-78973T>G (p.=)
c.1681T>G (p.Ser561Ala)
c.1765T>G (p.Ser589Ala)
c.808T>G (p.Ser270Ala)
c.1495+9203T>G (p.=)
5g.36985606C>ACA359501194NIPBLc.2426C>A (p.Ser809Tyr)
n.2046C>A
c.1-78972C>A (p.=)
c.1682C>A (p.Ser561Tyr)
c.1766C>A (p.Ser589Tyr)
c.809C>A (p.Ser270Tyr)
c.1495+9204C>A (p.=)
5g.36985606C=CA1539582174NIPBLc.2426C= (p.Ser809=)
n.2046C=
c.1-78972C= (p.=)
c.1682C= (p.Ser561=)
c.1766C= (p.Ser589=)
c.809C= (p.Ser270=)
c.1495+9204C= (p.=)
5g.36985606C>GCA359501196NIPBLc.2426C>G (p.Ser809Cys)
n.2046C>G
c.1-78972C>G (p.=)
c.1682C>G (p.Ser561Cys)
c.1766C>G (p.Ser589Cys)
c.809C>G (p.Ser270Cys)
c.1495+9204C>G (p.=)
gnomAD
5g.36985606C>TCA359501197NIPBLc.2426C>T (p.Ser809Phe)
n.2046C>T
c.1-78972C>T (p.=)
c.1682C>T (p.Ser561Phe)
c.1766C>T (p.Ser589Phe)
c.809C>T (p.Ser270Phe)
c.1495+9204C>T (p.=)
5g.36985607T>ACA444095888NIPBLc.2427T>A (p.Ser809=)
n.2047T>A
c.1-78971T>A (p.=)
c.1683T>A (p.Ser561=)
c.1767T>A (p.Ser589=)
c.810T>A (p.Ser270=)
c.1495+9205T>A (p.=)
5g.36985607T>CCA444095889NIPBLc.2427T>C (p.Ser809=)
n.2047T>C
c.1-78971T>C (p.=)
c.1683T>C (p.Ser561=)
c.1767T>C (p.Ser589=)
c.810T>C (p.Ser270=)
c.1495+9205T>C (p.=)
5g.36985607T>GCA444095890NIPBLc.2427T>G (p.Ser809=)
n.2047T>G
c.1-78971T>G (p.=)
c.1683T>G (p.Ser561=)
c.1767T>G (p.Ser589=)
c.810T>G (p.Ser270=)
c.1495+9205T>G (p.=)
5g.36985608G>ACA359501198NIPBLc.2428G>A (p.Val810Ile)
n.2048G>A
c.1-78970G>A (p.=)
c.1684G>A (p.Val562Ile)
c.1768G>A (p.Val590Ile)
c.811G>A (p.Val271Ile)
c.1495+9206G>A (p.=)
gnomAD
5g.36985608G>CCA359501200NIPBLc.2428G>C (p.Val810Leu)
n.2048G>C
c.1-78970G>C (p.=)
c.1684G>C (p.Val562Leu)
c.1768G>C (p.Val590Leu)
c.811G>C (p.Val271Leu)
c.1495+9206G>C (p.=)
5g.36985608G=CA1539582184NIPBLc.2428G= (p.Val810=)
n.2048G=
c.1-78970G= (p.=)
c.1684G= (p.Val562=)
c.1768G= (p.Val590=)
c.811G= (p.Val271=)
c.1495+9206G= (p.=)
5g.36985608G>TCA359501202NIPBLc.2428G>T (p.Val810Phe)
n.2048G>T
c.1-78970G>T (p.=)
c.1684G>T (p.Val562Phe)
c.1768G>T (p.Val590Phe)
c.811G>T (p.Val271Phe)
c.1495+9206G>T (p.=)
5g.36985609T>ACA359501203NIPBLc.2429T>A (p.Val810Asp)
n.2049T>A
c.1-78969T>A (p.=)
c.1685T>A (p.Val562Asp)
c.1769T>A (p.Val590Asp)
c.812T>A (p.Val271Asp)
c.1495+9207T>A (p.=)
5g.36985609T>CCA359501206NIPBLc.2429T>C (p.Val810Ala)
n.2049T>C
c.1-78969T>C (p.=)
c.1685T>C (p.Val562Ala)
c.1769T>C (p.Val590Ala)
c.812T>C (p.Val271Ala)
c.1495+9207T>C (p.=)
5g.36985609T>GCA359501204NIPBLc.2429T>G (p.Val810Gly)
n.2049T>G
c.1-78969T>G (p.=)
c.1685T>G (p.Val562Gly)
c.1769T>G (p.Val590Gly)
c.812T>G (p.Val271Gly)
c.1495+9207T>G (p.=)
5g.36985610T>ACA444095894NIPBLc.2430T>A (p.Val810=)
n.2050T>A
c.1-78968T>A (p.=)
c.1686T>A (p.Val562=)
c.1770T>A (p.Val590=)
c.813T>A (p.Val271=)
c.1495+9208T>A (p.=)
5g.36985610T>CCA444095893NIPBLc.2430T>C (p.Val810=)
n.2050T>C
c.1-78968T>C (p.=)
c.1686T>C (p.Val562=)
c.1770T>C (p.Val590=)
c.813T>C (p.Val271=)
c.1495+9208T>C (p.=)
5g.36985610T>GCA444095891NIPBLc.2430T>G (p.Val810=)
n.2050T>G
c.1-78968T>G (p.=)
c.1686T>G (p.Val562=)
c.1770T>G (p.Val590=)
c.813T>G (p.Val271=)
c.1495+9208T>G (p.=)
5g.36985611T>ACA359501208NIPBLc.2431T>A (p.Ser811Thr)
n.2051T>A
c.1-78967T>A (p.=)
c.1687T>A (p.Ser563Thr)
c.1771T>A (p.Ser591Thr)
c.814T>A (p.Ser272Thr)
c.1495+9209T>A (p.=)
5g.36985611T>CCA359501210NIPBLc.2431T>C (p.Ser811Pro)
n.2051T>C
c.1-78967T>C (p.=)
c.1687T>C (p.Ser563Pro)
c.1771T>C (p.Ser591Pro)
c.814T>C (p.Ser272Pro)
c.1495+9209T>C (p.=)
5g.36985611T>GCA359501209NIPBLc.2431T>G (p.Ser811Ala)
n.2051T>G
c.1-78967T>G (p.=)
c.1687T>G (p.Ser563Ala)
c.1771T>G (p.Ser591Ala)
c.814T>G (p.Ser272Ala)
c.1495+9209T>G (p.=)
5g.36985612C>ACA359501211NIPBLc.2432C>A (p.Ser811Tyr)
n.2052C>A
c.1-78966C>A (p.=)
c.1688C>A (p.Ser563Tyr)
c.1772C>A (p.Ser591Tyr)
c.815C>A (p.Ser272Tyr)
c.1495+9210C>A (p.=)
5g.36985612C>GCA359501213NIPBLc.2432C>G (p.Ser811Cys)
n.2052C>G
c.1-78966C>G (p.=)
c.1688C>G (p.Ser563Cys)
c.1772C>G (p.Ser591Cys)
c.815C>G (p.Ser272Cys)
c.1495+9210C>G (p.=)
5g.36985612C>TCA359501215NIPBLc.2432C>T (p.Ser811Phe)
n.2052C>T
c.1-78966C>T (p.=)
c.1688C>T (p.Ser563Phe)
c.1772C>T (p.Ser591Phe)
c.815C>T (p.Ser272Phe)
c.1495+9210C>T (p.=)
5g.36985613T>ACA444095896NIPBLc.2433T>A (p.Ser811=)
n.2053T>A
c.1-78965T>A (p.=)
c.1689T>A (p.Ser563=)
c.1773T>A (p.Ser591=)
c.816T>A (p.Ser272=)
c.1495+9211T>A (p.=)
5g.36985613T>CCA444095897NIPBLc.2433T>C (p.Ser811=)
n.2053T>C
c.1-78965T>C (p.=)
c.1689T>C (p.Ser563=)
c.1773T>C (p.Ser591=)
c.816T>C (p.Ser272=)
c.1495+9211T>C (p.=)
5g.36985613T>GCA444095898NIPBLc.2433T>G (p.Ser811=)
n.2053T>G
c.1-78965T>G (p.=)
c.1689T>G (p.Ser563=)
c.1773T>G (p.Ser591=)
c.816T>G (p.Ser272=)
c.1495+9211T>G (p.=)
5g.36985614G>ACA359501217NIPBLc.2434G>A (p.Glu812Lys)
n.2054G>A
c.1-78964G>A (p.=)
c.1690G>A (p.Glu564Lys)
c.1774G>A (p.Glu592Lys)
c.817G>A (p.Glu273Lys)
c.1495+9212G>A (p.=)
COSMIC COSMIC
5g.36985614G>CCA359501218NIPBLc.2434G>C (p.Glu812Gln)
n.2054G>C
c.1-78964G>C (p.=)
c.1690G>C (p.Glu564Gln)
c.1774G>C (p.Glu592Gln)
c.817G>C (p.Glu273Gln)
c.1495+9212G>C (p.=)
5g.36985614G>TCA359501219NIPBLc.2434G>T (p.Glu812Ter)
n.2054G>T
c.1-78964G>T (p.=)
c.1690G>T (p.Glu564Ter)
c.1774G>T (p.Glu592Ter)
c.817G>T (p.Glu273Ter)
c.1495+9212G>T (p.=)
5g.36985615A>CCA359501222NIPBLc.2435A>C (p.Glu812Ala)
n.2055A>C
c.1-78963A>C (p.=)
c.1691A>C (p.Glu564Ala)
c.1775A>C (p.Glu592Ala)
c.818A>C (p.Glu273Ala)
c.1495+9213A>C (p.=)
5g.36985615A>GCA359501223NIPBLc.2435A>G (p.Glu812Gly)
n.2055A>G
c.1-78963A>G (p.=)
c.1691A>G (p.Glu564Gly)
c.1775A>G (p.Glu592Gly)
c.818A>G (p.Glu273Gly)
c.1495+9213A>G (p.=)
5g.36985615A>TCA359501224NIPBLc.2435A>T (p.Glu812Val)
n.2055A>T
c.1-78963A>T (p.=)
c.1691A>T (p.Glu564Val)
c.1775A>T (p.Glu592Val)
c.818A>T (p.Glu273Val)
c.1495+9213A>T (p.=)
5g.36985616G>ACA3236169NIPBLc.2436G>A (p.Glu812=)
n.2056G>A
c.1-78962G>A (p.=)
c.1692G>A (p.Glu564=)
c.1776G>A (p.Glu592=)
c.819G>A (p.Glu273=)
c.1495+9214G>A (p.=)
dbSNP ExAC gnomAD
5g.36985616G>CCA359501228NIPBLc.2436G>C (p.Glu812Asp)
n.2056G>C
c.1-78962G>C (p.=)
c.1692G>C (p.Glu564Asp)
c.1776G>C (p.Glu592Asp)
c.819G>C (p.Glu273Asp)
c.1495+9214G>C (p.=)
gnomAD
5g.36985616G=CA1539582187NIPBLc.2436G= (p.Glu812=)
n.2056G=
c.1-78962G= (p.=)
c.1692G= (p.Glu564=)
c.1776G= (p.Glu592=)
c.819G= (p.Glu273=)
c.1495+9214G= (p.=)
5g.36985616G>TCA359501229NIPBLc.2436G>T (p.Glu812Asp)
n.2056G>T
c.1-78962G>T (p.=)
c.1692G>T (p.Glu564Asp)
c.1776G>T (p.Glu592Asp)
c.819G>T (p.Glu273Asp)
c.1495+9214G>T (p.=)

Number of alleles fetched