Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.36985502G>ACA444095937NIPBLc.2322G>A (p.Glu774=)
n.1942G>A
c.1-79076G>A (p.=)
c.1578G>A (p.Glu526=)
c.1662G>A (p.Glu554=)
c.705G>A (p.Glu235=)
c.1495+9100G>A (p.=)
gnomAD
5g.36985502G>CCA359500599NIPBLc.2322G>C (p.Glu774Asp)
n.1942G>C
c.1-79076G>C (p.=)
c.1578G>C (p.Glu526Asp)
c.1662G>C (p.Glu554Asp)
c.705G>C (p.Glu235Asp)
c.1495+9100G>C (p.=)
5g.36985502G=CA1539581932NIPBLc.2322G= (p.Glu774=)
n.1942G=
c.1-79076G= (p.=)
c.1578G= (p.Glu526=)
c.1662G= (p.Glu554=)
c.705G= (p.Glu235=)
c.1495+9100G= (p.=)
5g.36985502G>TCA359500597NIPBLc.2322G>T (p.Glu774Asp)
n.1942G>T
c.1-79076G>T (p.=)
c.1578G>T (p.Glu526Asp)
c.1662G>T (p.Glu554Asp)
c.705G>T (p.Glu235Asp)
c.1495+9100G>T (p.=)
5g.36985503A=CA1539581937NIPBLc.2323A= (p.Lys775=)
n.1943A=
c.1-79075A= (p.=)
c.1579A= (p.Lys527=)
c.1663A= (p.Lys555=)
c.706A= (p.Lys236=)
c.1495+9101A= (p.=)
5g.36985503A>CCA359500601NIPBLc.2323A>C (p.Lys775Gln)
n.1943A>C
c.1-79075A>C (p.=)
c.1579A>C (p.Lys527Gln)
c.1663A>C (p.Lys555Gln)
c.706A>C (p.Lys236Gln)
c.1495+9101A>C (p.=)
5g.36985503A>GCA117044381NIPBLc.2323A>G (p.Lys775Glu)
n.1943A>G
c.1-79075A>G (p.=)
c.1579A>G (p.Lys527Glu)
c.1663A>G (p.Lys555Glu)
c.706A>G (p.Lys236Glu)
c.1495+9101A>G (p.=)
dbSNP
5g.36985503A>TCA359500605NIPBLc.2323A>T (p.Lys775Ter)
n.1943A>T
c.1-79075A>T (p.=)
c.1579A>T (p.Lys527Ter)
c.1663A>T (p.Lys555Ter)
c.706A>T (p.Lys236Ter)
c.1495+9101A>T (p.=)
5g.36985508dupCA645547467NIPBLc.2328dup (p.Pro777ThrfsTer2)
n.1948dup
c.1-79070dup (p.=)
c.1584dup (p.Pro529ThrfsTer2)
c.1668dup (p.Pro557ThrfsTer2)
c.711dup (p.Pro238ThrfsTer2)
c.1495+9106dup (p.=)
COSMIC COSMIC
5g.36985504A>CCA359500606NIPBLc.2324A>C (p.Lys775Thr)
n.1944A>C
c.1-79074A>C (p.=)
c.1580A>C (p.Lys527Thr)
c.1664A>C (p.Lys555Thr)
c.707A>C (p.Lys236Thr)
c.1495+9102A>C (p.=)
5g.36985504A>GCA359500607NIPBLc.2324A>G (p.Lys775Arg)
n.1944A>G
c.1-79074A>G (p.=)
c.1580A>G (p.Lys527Arg)
c.1664A>G (p.Lys555Arg)
c.707A>G (p.Lys236Arg)
c.1495+9102A>G (p.=)
5g.36985504A>TCA359500608NIPBLc.2324A>T (p.Lys775Ile)
n.1944A>T
c.1-79074A>T (p.=)
c.1580A>T (p.Lys527Ile)
c.1664A>T (p.Lys555Ile)
c.707A>T (p.Lys236Ile)
c.1495+9102A>T (p.=)
5g.36985505A=CA1539581944NIPBLc.2325A= (p.Lys775=)
n.1945A=
c.1-79073A= (p.=)
c.1581A= (p.Lys527=)
c.1665A= (p.Lys555=)
c.708A= (p.Lys236=)
c.1495+9103A= (p.=)
5g.36985505A>CCA359500614NIPBLc.2325A>C (p.Lys775Asn)
n.1945A>C
c.1-79073A>C (p.=)
c.1581A>C (p.Lys527Asn)
c.1665A>C (p.Lys555Asn)
c.708A>C (p.Lys236Asn)
c.1495+9103A>C (p.=)
5g.36985505A>GCA172660NIPBLc.2325A>G (p.Lys775=)
n.1945A>G
c.1-79073A>G (p.=)
c.1581A>G (p.Lys527=)
c.1665A>G (p.Lys555=)
c.708A>G (p.Lys236=)
c.1495+9103A>G (p.=)
ClinVar dbSNP
5g.36985505A>TCA359500618NIPBLc.2325A>T (p.Lys775Asn)
n.1945A>T
c.1-79073A>T (p.=)
c.1581A>T (p.Lys527Asn)
c.1665A>T (p.Lys555Asn)
c.708A>T (p.Lys236Asn)
c.1495+9103A>T (p.=)
5g.36985506A>CCA359500621NIPBLc.2326A>C (p.Lys776Gln)
n.1946A>C
c.1-79072A>C (p.=)
c.1582A>C (p.Lys528Gln)
c.1666A>C (p.Lys556Gln)
c.709A>C (p.Lys237Gln)
c.1495+9104A>C (p.=)
5g.36985506A>GCA359500625NIPBLc.2326A>G (p.Lys776Glu)
n.1946A>G
c.1-79072A>G (p.=)
c.1582A>G (p.Lys528Glu)
c.1666A>G (p.Lys556Glu)
c.709A>G (p.Lys237Glu)
c.1495+9104A>G (p.=)
5g.36985506A>TCA359500626NIPBLc.2326A>T (p.Lys776Ter)
n.1946A>T
c.1-79072A>T (p.=)
c.1582A>T (p.Lys528Ter)
c.1666A>T (p.Lys556Ter)
c.709A>T (p.Lys237Ter)
c.1495+9104A>T (p.=)
5g.36985507A>CCA359500630NIPBLc.2327A>C (p.Lys776Thr)
n.1947A>C
c.1-79071A>C (p.=)
c.1583A>C (p.Lys528Thr)
c.1667A>C (p.Lys556Thr)
c.710A>C (p.Lys237Thr)
c.1495+9105A>C (p.=)
5g.36985507A>GCA359500632NIPBLc.2327A>G (p.Lys776Arg)
n.1947A>G
c.1-79071A>G (p.=)
c.1583A>G (p.Lys528Arg)
c.1667A>G (p.Lys556Arg)
c.710A>G (p.Lys237Arg)
c.1495+9105A>G (p.=)
5g.36985507A>TCA359500629NIPBLc.2327A>T (p.Lys776Ile)
n.1947A>T
c.1-79071A>T (p.=)
c.1583A>T (p.Lys528Ile)
c.1667A>T (p.Lys556Ile)
c.710A>T (p.Lys237Ile)
c.1495+9105A>T (p.=)
5g.36985508A=CA1539581954NIPBLc.2328A= (p.Lys776=)
n.1948A=
c.1-79070A= (p.=)
c.1584A= (p.Lys528=)
c.1668A= (p.Lys556=)
c.711A= (p.Lys237=)
c.1495+9106A= (p.=)
5g.36985508A>CCA359500634NIPBLc.2328A>C (p.Lys776Asn)
n.1948A>C
c.1-79070A>C (p.=)
c.1584A>C (p.Lys528Asn)
c.1668A>C (p.Lys556Asn)
c.711A>C (p.Lys237Asn)
c.1495+9106A>C (p.=)
5g.36985508A>GCA444095941NIPBLc.2328A>G (p.Lys776=)
n.1948A>G
c.1-79070A>G (p.=)
c.1584A>G (p.Lys528=)
c.1668A>G (p.Lys556=)
c.711A>G (p.Lys237=)
c.1495+9106A>G (p.=)
5g.36985508A>TCA359500637NIPBLc.2328A>T (p.Lys776Asn)
n.1948A>T
c.1-79070A>T (p.=)
c.1584A>T (p.Lys528Asn)
c.1668A>T (p.Lys556Asn)
c.711A>T (p.Lys237Asn)
c.1495+9106A>T (p.=)
5g.36985509C>ACA359500639NIPBLc.2329C>A (p.Pro777Thr)
n.1949C>A
c.1-79069C>A (p.=)
c.1585C>A (p.Pro529Thr)
c.1669C>A (p.Pro557Thr)
c.712C>A (p.Pro238Thr)
c.1495+9107C>A (p.=)
5g.36985509C>GCA359500641NIPBLc.2329C>G (p.Pro777Ala)
n.1949C>G
c.1-79069C>G (p.=)
c.1585C>G (p.Pro529Ala)
c.1669C>G (p.Pro557Ala)
c.712C>G (p.Pro238Ala)
c.1495+9107C>G (p.=)
5g.36985509C>TCA359500644NIPBLc.2329C>T (p.Pro777Ser)
n.1949C>T
c.1-79069C>T (p.=)
c.1585C>T (p.Pro529Ser)
c.1669C>T (p.Pro557Ser)
c.712C>T (p.Pro238Ser)
c.1495+9107C>T (p.=)
5g.36985510C>ACA359500653NIPBLc.2330C>A (p.Pro777His)
n.1950C>A
c.1-79068C>A (p.=)
c.1586C>A (p.Pro529His)
c.1670C>A (p.Pro557His)
c.713C>A (p.Pro238His)
c.1495+9108C>A (p.=)
5g.36985510C>GCA359500647NIPBLc.2330C>G (p.Pro777Arg)
n.1950C>G
c.1-79068C>G (p.=)
c.1586C>G (p.Pro529Arg)
c.1670C>G (p.Pro557Arg)
c.713C>G (p.Pro238Arg)
c.1495+9108C>G (p.=)
5g.36985510C>TCA359500650NIPBLc.2330C>T (p.Pro777Leu)
n.1950C>T
c.1-79068C>T (p.=)
c.1586C>T (p.Pro529Leu)
c.1670C>T (p.Pro557Leu)
c.713C>T (p.Pro238Leu)
c.1495+9108C>T (p.=)
5g.36985511T>ACA444095945NIPBLc.2331T>A (p.Pro777=)
n.1951T>A
c.1-79067T>A (p.=)
c.1587T>A (p.Pro529=)
c.1671T>A (p.Pro557=)
c.714T>A (p.Pro238=)
c.1495+9109T>A (p.=)
5g.36985511T>CCA444095946NIPBLc.2331T>C (p.Pro777=)
n.1951T>C
c.1-79067T>C (p.=)
c.1587T>C (p.Pro529=)
c.1671T>C (p.Pro557=)
c.714T>C (p.Pro238=)
c.1495+9109T>C (p.=)
gnomAD
5g.36985511T>GCA444095948NIPBLc.2331T>G (p.Pro777=)
n.1951T>G
c.1-79067T>G (p.=)
c.1587T>G (p.Pro529=)
c.1671T>G (p.Pro557=)
c.714T>G (p.Pro238=)
c.1495+9109T>G (p.=)
5g.36985511T=CA1539581964NIPBLc.2331T= (p.Pro777=)
n.1951T=
c.1-79067T= (p.=)
c.1587T= (p.Pro529=)
c.1671T= (p.Pro557=)
c.714T= (p.Pro238=)
c.1495+9109T= (p.=)
5g.36985512G>ACA359500655NIPBLc.2332G>A (p.Glu778Lys)
n.1952G>A
c.1-79066G>A (p.=)
c.1588G>A (p.Glu530Lys)
c.1672G>A (p.Glu558Lys)
c.715G>A (p.Glu239Lys)
c.1495+9110G>A (p.=)
5g.36985512G>CCA359500658NIPBLc.2332G>C (p.Glu778Gln)
n.1952G>C
c.1-79066G>C (p.=)
c.1588G>C (p.Glu530Gln)
c.1672G>C (p.Glu558Gln)
c.715G>C (p.Glu239Gln)
c.1495+9110G>C (p.=)
5g.36985512G=CA1539581969NIPBLc.2332G= (p.Glu778=)
n.1952G=
c.1-79066G= (p.=)
c.1588G= (p.Glu530=)
c.1672G= (p.Glu558=)
c.715G= (p.Glu239=)
c.1495+9110G= (p.=)
5g.36985512G>TCA359500661NIPBLc.2332G>T (p.Glu778Ter)
n.1952G>T
c.1-79066G>T (p.=)
c.1588G>T (p.Glu530Ter)
c.1672G>T (p.Glu558Ter)
c.715G>T (p.Glu239Ter)
c.1495+9110G>T (p.=)
5g.36985513A=CA1539581974NIPBLc.2333A= (p.Glu778=)
n.1953A=
c.1-79065A= (p.=)
c.1589A= (p.Glu530=)
c.1673A= (p.Glu558=)
c.716A= (p.Glu239=)
c.1495+9111A= (p.=)
5g.36985513A>CCA359500664NIPBLc.2333A>C (p.Glu778Ala)
n.1953A>C
c.1-79065A>C (p.=)
c.1589A>C (p.Glu530Ala)
c.1673A>C (p.Glu558Ala)
c.716A>C (p.Glu239Ala)
c.1495+9111A>C (p.=)
5g.36985513A>GCA117044389NIPBLc.2333A>G (p.Glu778Gly)
n.1953A>G
c.1-79065A>G (p.=)
c.1589A>G (p.Glu530Gly)
c.1673A>G (p.Glu558Gly)
c.716A>G (p.Glu239Gly)
c.1495+9111A>G (p.=)
dbSNP gnomAD
5g.36985513A>TCA359500667NIPBLc.2333A>T (p.Glu778Val)
n.1953A>T
c.1-79065A>T (p.=)
c.1589A>T (p.Glu530Val)
c.1673A>T (p.Glu558Val)
c.716A>T (p.Glu239Val)
c.1495+9111A>T (p.=)
5g.36985514A=CA1539581978NIPBLc.2334A= (p.Glu778=)
n.1954A=
c.1-79064A= (p.=)
c.1590A= (p.Glu530=)
c.1674A= (p.Glu558=)
c.717A= (p.Glu239=)
c.1495+9112A= (p.=)
5g.36985514A>CCA3236152NIPBLc.2334A>C (p.Glu778Asp)
n.1954A>C
c.1-79064A>C (p.=)
c.1590A>C (p.Glu530Asp)
c.1674A>C (p.Glu558Asp)
c.717A>C (p.Glu239Asp)
c.1495+9112A>C (p.=)
dbSNP ExAC gnomAD
5g.36985514A>GCA444095952NIPBLc.2334A>G (p.Glu778=)
n.1954A>G
c.1-79064A>G (p.=)
c.1590A>G (p.Glu530=)
c.1674A>G (p.Glu558=)
c.717A>G (p.Glu239=)
c.1495+9112A>G (p.=)
5g.36985514A>TCA359500673NIPBLc.2334A>T (p.Glu778Asp)
n.1954A>T
c.1-79064A>T (p.=)
c.1590A>T (p.Glu530Asp)
c.1674A>T (p.Glu558Asp)
c.717A>T (p.Glu239Asp)
c.1495+9112A>T (p.=)
5g.36985515G>ACA359500676NIPBLc.2335G>A (p.Val779Met)
n.1955G>A
c.1-79063G>A (p.=)
c.1591G>A (p.Val531Met)
c.1675G>A (p.Val559Met)
c.718G>A (p.Val240Met)
c.1495+9113G>A (p.=)
5g.36985515G>CCA359500678NIPBLc.2335G>C (p.Val779Leu)
n.1955G>C
c.1-79063G>C (p.=)
c.1591G>C (p.Val531Leu)
c.1675G>C (p.Val559Leu)
c.718G>C (p.Val240Leu)
c.1495+9113G>C (p.=)

Number of alleles fetched