Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.74101002A=CA1919893075VCLc.1927A= (p.Thr643=)
c.943A= (p.Thr315=)
n.332-52A=
n.4730A=
c.*1682A= (n.*1682A=)
c.1930A= (p.Thr644=)
10g.74101002A>CCA377277656VCLc.1927A>C (p.Thr643Pro)
c.943A>C (p.Thr315Pro)
n.332-52A>C
n.4730A>C
c.*1682A>C (n.*1682A>C)
c.1930A>C (p.Thr644Pro)
10g.74101002A>GCA377277658VCLc.1927A>G (p.Thr643Ala)
c.943A>G (p.Thr315Ala)
n.332-52A>G
n.4730A>G
c.*1682A>G (n.*1682A>G)
c.1930A>G (p.Thr644Ala)
dbSNP
10g.74101002A>TCA377277660VCLc.1927A>T (p.Thr643Ser)
c.943A>T (p.Thr315Ser)
n.332-52A>T
n.4730A>T
c.*1682A>T (n.*1682A>T)
c.1930A>T (p.Thr644Ser)
10g.74101003C>ACA377277662VCLc.1928C>A (p.Thr643Lys)
c.944C>A (p.Thr315Lys)
n.332-51C>A
n.4731C>A
c.*1683C>A (n.*1683C>A)
c.1931C>A (p.Thr644Lys)
10g.74101003C=CA1919893079VCLc.1928C= (p.Thr643=)
c.944C= (p.Thr315=)
n.332-51C=
n.4731C=
c.*1683C= (n.*1683C=)
c.1931C= (p.Thr644=)
10g.74101003C>GCA377277664VCLc.1928C>G (p.Thr643Arg)
c.944C>G (p.Thr315Arg)
n.332-51C>G
n.4731C>G
c.*1683C>G (n.*1683C>G)
c.1931C>G (p.Thr644Arg)
10g.74101003C>TCA5563121VCLc.1928C>T (p.Thr643Met)
c.944C>T (p.Thr315Met)
n.332-51C>T
n.4731C>T
c.*1683C>T (n.*1683C>T)
c.1931C>T (p.Thr644Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.74101004G>ACA470175545VCLc.1929G>A (p.Thr643=)
c.945G>A (p.Thr315=)
n.332-50G>A
n.4732G>A
c.*1684G>A (n.*1684G>A)
c.1932G>A (p.Thr644=)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.74101004G>CCA470175546VCLc.1929G>C (p.Thr643=)
c.945G>C (p.Thr315=)
n.332-50G>C
n.4732G>C
c.*1684G>C (n.*1684G>C)
c.1932G>C (p.Thr644=)
10g.74101004G=CA1919893086VCLc.1929G= (p.Thr643=)
c.945G= (p.Thr315=)
n.332-50G=
n.4732G=
c.*1684G= (n.*1684G=)
c.1932G= (p.Thr644=)
10g.74101004G>TCA470175547VCLc.1929G>T (p.Thr643=)
c.945G>T (p.Thr315=)
n.332-50G>T
n.4732G>T
c.*1684G>T (n.*1684G>T)
c.1932G>T (p.Thr644=)
10g.74101005G>ACA377277670VCLc.1930G>A (p.Ala644Thr)
c.946G>A (p.Ala316Thr)
n.332-49G>A
n.4733G>A
c.*1685G>A (n.*1685G>A)
c.1933G>A (p.Ala645Thr)
10g.74101005G>CCA377277675VCLc.1930G>C (p.Ala644Pro)
c.946G>C (p.Ala316Pro)
n.332-49G>C
n.4733G>C
c.*1685G>C (n.*1685G>C)
c.1933G>C (p.Ala645Pro)
10g.74101005G>TCA377277672VCLc.1930G>T (p.Ala644Ser)
c.946G>T (p.Ala316Ser)
n.332-49G>T
n.4733G>T
c.*1685G>T (n.*1685G>T)
c.1933G>T (p.Ala645Ser)
10g.74101006C>ACA377277678VCLc.1931C>A (p.Ala644Asp)
c.947C>A (p.Ala316Asp)
n.332-48C>A
n.4734C>A
c.*1686C>A (n.*1686C>A)
c.1934C>A (p.Ala645Asp)
10g.74101006C>GCA377277680VCLc.1931C>G (p.Ala644Gly)
c.947C>G (p.Ala316Gly)
n.332-48C>G
n.4734C>G
c.*1686C>G (n.*1686C>G)
c.1934C>G (p.Ala645Gly)
10g.74101006C>TCA377277683VCLc.1931C>T (p.Ala644Val)
c.947C>T (p.Ala316Val)
n.332-48C>T
n.4734C>T
c.*1686C>T (n.*1686C>T)
c.1934C>T (p.Ala645Val)
10g.74101007C>ACA470175548VCLc.1932C>A (p.Ala644=)
c.948C>A (p.Ala316=)
n.332-47C>A
n.4735C>A
c.*1687C>A (n.*1687C>A)
c.1935C>A (p.Ala645=)
10g.74101007C=CA1919893091VCLc.1932C= (p.Ala644=)
c.948C= (p.Ala316=)
n.332-47C=
n.4735C=
c.*1687C= (n.*1687C=)
c.1935C= (p.Ala645=)
10g.74101007C>GCA470175549VCLc.1932C>G (p.Ala644=)
c.948C>G (p.Ala316=)
n.332-47C>G
n.4735C>G
c.*1687C>G (n.*1687C>G)
c.1935C>G (p.Ala645=)
10g.74101007C>TCA5563122VCLc.1932C>T (p.Ala644=)
c.948C>T (p.Ala316=)
n.332-47C>T
n.4735C>T
c.*1687C>T (n.*1687C>T)
c.1935C>T (p.Ala645=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.74101008G>ACA5563123VCLc.1933G>A (p.Glu645Lys)
c.949G>A (p.Glu317Lys)
n.332-46G>A
n.4736G>A
c.*1688G>A (n.*1688G>A)
c.1936G>A (p.Glu646Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.74101008G>CCA377277688VCLc.1933G>C (p.Glu645Gln)
c.949G>C (p.Glu317Gln)
n.332-46G>C
n.4736G>C
c.*1688G>C (n.*1688G>C)
c.1936G>C (p.Glu646Gln)
10g.74101008G=CA1919893094VCLc.1933G= (p.Glu645=)
c.949G= (p.Glu317=)
n.332-46G=
n.4736G=
c.*1688G= (n.*1688G=)
c.1936G= (p.Glu646=)
10g.74101008G>TCA377277691VCLc.1933G>T (p.Glu645Ter)
c.949G>T (p.Glu317Ter)
n.332-46G>T
n.4736G>T
c.*1688G>T (n.*1688G>T)
c.1936G>T (p.Glu646Ter)
10g.74101009A>CCA377277697VCLc.1934A>C (p.Glu645Ala)
c.950A>C (p.Glu317Ala)
n.332-45A>C
n.4737A>C
c.*1689A>C (n.*1689A>C)
c.1937A>C (p.Glu646Ala)
10g.74101009A>GCA377277703VCLc.1934A>G (p.Glu645Gly)
c.950A>G (p.Glu317Gly)
n.332-45A>G
n.4737A>G
c.*1689A>G (n.*1689A>G)
c.1937A>G (p.Glu646Gly)
10g.74101009A>TCA377277700VCLc.1934A>T (p.Glu645Val)
c.950A>T (p.Glu317Val)
n.332-45A>T
n.4737A>T
c.*1689A>T (n.*1689A>T)
c.1937A>T (p.Glu646Val)
10g.74101010G>ACA470175551VCLc.1935G>A (p.Glu645=)
c.951G>A (p.Glu317=)
n.332-44G>A
n.4738G>A
c.*1690G>A (n.*1690G>A)
c.1938G>A (p.Glu646=)
10g.74101010G>CCA377277706VCLc.1935G>C (p.Glu645Asp)
c.951G>C (p.Glu317Asp)
n.332-44G>C
n.4738G>C
c.*1690G>C (n.*1690G>C)
c.1938G>C (p.Glu646Asp)
gnomAD v4
10g.74101010G>TCA377277707VCLc.1935G>T (p.Glu645Asp)
c.951G>T (p.Glu317Asp)
n.332-44G>T
n.4738G>T
c.*1690G>T (n.*1690G>T)
c.1938G>T (p.Glu646Asp)
10g.74101011A>CCA377277713VCLc.1936A>C (p.Lys646Gln)
c.952A>C (p.Lys318Gln)
n.332-43A>C
n.4739A>C
c.*1691A>C (n.*1691A>C)
c.1939A>C (p.Lys647Gln)
10g.74101011A>GCA377277718VCLc.1936A>G (p.Lys646Glu)
c.952A>G (p.Lys318Glu)
n.332-43A>G
n.4739A>G
c.*1691A>G (n.*1691A>G)
c.1939A>G (p.Lys647Glu)
gnomAD v4
10g.74101011A>TCA377277721VCLc.1936A>T (p.Lys646Ter)
c.952A>T (p.Lys318Ter)
n.332-43A>T
n.4739A>T
c.*1691A>T (n.*1691A>T)
c.1939A>T (p.Lys647Ter)
10g.74101012A=CA1919893099VCLc.1937A= (p.Lys646=)
c.953A= (p.Lys318=)
n.332-42A=
n.4740A=
c.*1692A= (n.*1692A=)
c.1940A= (p.Lys647=)
10g.74101012A>CCA5563124VCLc.1937A>C (p.Lys646Thr)
c.953A>C (p.Lys318Thr)
n.332-42A>C
n.4740A>C
c.*1692A>C (n.*1692A>C)
c.1940A>C (p.Lys647Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.74101012A>GCA377277725VCLc.1937A>G (p.Lys646Arg)
c.953A>G (p.Lys318Arg)
n.332-42A>G
n.4740A>G
c.*1692A>G (n.*1692A>G)
c.1940A>G (p.Lys647Arg)
10g.74101012A>TCA377277727VCLc.1937A>T (p.Lys646Met)
c.953A>T (p.Lys318Met)
n.332-42A>T
n.4740A>T
c.*1692A>T (n.*1692A>T)
c.1940A>T (p.Lys647Met)
COSMIC
10g.74101013G>ACA470175554VCLc.1938G>A (p.Lys646=)
c.954G>A (p.Lys318=)
n.332-41G>A
n.4741G>A
c.*1693G>A (n.*1693G>A)
c.1941G>A (p.Lys647=)
10g.74101013G>CCA377277729VCLc.1938G>C (p.Lys646Asn)
c.954G>C (p.Lys318Asn)
n.332-41G>C
n.4741G>C
c.*1693G>C (n.*1693G>C)
c.1941G>C (p.Lys647Asn)
10g.74101013G>TCA377277732VCLc.1938G>T (p.Lys646Asn)
c.954G>T (p.Lys318Asn)
n.332-41G>T
n.4741G>T
c.*1693G>T (n.*1693G>T)
c.1941G>T (p.Lys647Asn)
ClinVar
10g.74101014G>ACA377277741VCLc.1939G>A (p.Ala647Thr)
c.955G>A (p.Ala319Thr)
n.332-40G>A
n.4742G>A
c.*1694G>A (n.*1694G>A)
c.1942G>A (p.Ala648Thr)
gnomAD v4
10g.74101014G>CCA377277737VCLc.1939G>C (p.Ala647Pro)
c.955G>C (p.Ala319Pro)
n.332-40G>C
n.4742G>C
c.*1694G>C (n.*1694G>C)
c.1942G>C (p.Ala648Pro)
gnomAD v4
10g.74101014G>TCA377277734VCLc.1939G>T (p.Ala647Ser)
c.955G>T (p.Ala319Ser)
n.332-40G>T
n.4742G>T
c.*1694G>T (n.*1694G>T)
c.1942G>T (p.Ala648Ser)
10g.74101015C>ACA377277744VCLc.1940C>A (p.Ala647Glu)
c.956C>A (p.Ala319Glu)
n.332-39C>A
n.4743C>A
c.*1695C>A (n.*1695C>A)
c.1943C>A (p.Ala648Glu)
10g.74101015C=CA1919893105VCLc.1940C= (p.Ala647=)
c.956C= (p.Ala319=)
n.332-39C=
n.4743C=
c.*1695C= (n.*1695C=)
c.1943C= (p.Ala648=)
10g.74101015C>GCA377277746VCLc.1940C>G (p.Ala647Gly)
c.956C>G (p.Ala319Gly)
n.332-39C>G
n.4743C>G
c.*1695C>G (n.*1695C>G)
c.1943C>G (p.Ala648Gly)
10g.74101015C>TCA5563125VCLc.1940C>T (p.Ala647Val)
c.956C>T (p.Ala319Val)
n.332-39C>T
n.4743C>T
c.*1695C>T (n.*1695C>T)
c.1943C>T (p.Ala648Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.74101016G>ACA470162773VCLc.1941G>A (p.Ala647=)
c.957G>A (p.Ala319=)
n.332-38G>A
n.4744G>A
c.*1696G>A (n.*1696G>A)
c.1944G>A (p.Ala648=)
ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched