Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.186095484T>ACA422513829HMCN1c.10536T>A (p.Ala3512=)
c.10251T>A (p.Ala3417=)
c.8559T>A (p.Ala2853=)
1g.186095484T>CCA1293743HMCN1c.10536T>C (p.Ala3512=)
c.10251T>C (p.Ala3417=)
c.8559T>C (p.Ala2853=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.186095484T>GCA422513830HMCN1c.10536T>G (p.Ala3512=)
c.10251T>G (p.Ala3417=)
c.8559T>G (p.Ala2853=)
1g.186095484T=CA1140818305HMCN1c.10536T= (p.Ala3512=)
c.10251T= (p.Ala3417=)
c.8559T= (p.Ala2853=)
1g.186095485G>ACA343931390HMCN1c.10537G>A (p.Gly3513Arg)
c.10252G>A (p.Gly3418Arg)
c.8560G>A (p.Gly2854Arg)
 COSMIC
1g.186095485G>CCA343931392HMCN1c.10537G>C (p.Gly3513Arg)
c.10252G>C (p.Gly3418Arg)
c.8560G>C (p.Gly2854Arg)
1g.186095485G>TCA343931393HMCN1c.10537G>T (p.Gly3513Ter)
c.10252G>T (p.Gly3418Ter)
c.8560G>T (p.Gly2854Ter)
1g.186095486delCA2746980145HMCN1c.10538del (p.Gly3513GlufsTer12)
c.10253del (p.Gly3418GlufsTer12)
c.8561del (p.Gly2854GlufsTer12)
1g.186095486G>ACA343931396HMCN1c.10538G>A (p.Gly3513Glu)
c.10253G>A (p.Gly3418Glu)
c.8561G>A (p.Gly2854Glu)
 gnomAD v4
1g.186095486G>CCA343931400HMCN1c.10538G>C (p.Gly3513Ala)
c.10253G>C (p.Gly3418Ala)
c.8561G>C (p.Gly2854Ala)
1g.186095486G>TCA343931404HMCN1c.10538G>T (p.Gly3513Val)
c.10253G>T (p.Gly3418Val)
c.8561G>T (p.Gly2854Val)
1g.186095487delCA2994116945HMCN1c.10539del (p.Glu3514LysfsTer11)
c.10254del (p.Glu3419LysfsTer11)
c.8562del (p.Glu2855LysfsTer11)
1g.186095487A>CCA422513831HMCN1c.10539A>C (p.Gly3513=)
c.10254A>C (p.Gly3418=)
c.8562A>C (p.Gly2854=)
1g.186095487A>GCA422513832HMCN1c.10539A>G (p.Gly3513=)
c.10254A>G (p.Gly3418=)
c.8562A>G (p.Gly2854=)
1g.186095487A>TCA422513833HMCN1c.10539A>T (p.Gly3513=)
c.10254A>T (p.Gly3418=)
c.8562A>T (p.Gly2854=)
1g.186095488G>ACA343931407HMCN1c.10540G>A (p.Glu3514Lys)
c.10255G>A (p.Glu3419Lys)
c.8563G>A (p.Glu2855Lys)
 dbSNP gnomAD v3 gnomAD v4
1g.186095488G>CCA343931405HMCN1c.10540G>C (p.Glu3514Gln)
c.10255G>C (p.Glu3419Gln)
c.8563G>C (p.Glu2855Gln)
1g.186095488G=CA1212995233HMCN1c.10540G= (p.Glu3514=)
c.10255G= (p.Glu3419=)
c.8563G= (p.Glu2855=)
1g.186095488G>TCA343931406HMCN1c.10540G>T (p.Glu3514Ter)
c.10255G>T (p.Glu3419Ter)
c.8563G>T (p.Glu2855Ter)
 COSMIC
1g.186095489A>CCA343931409HMCN1c.10541A>C (p.Glu3514Ala)
c.10256A>C (p.Glu3419Ala)
c.8564A>C (p.Glu2855Ala)
1g.186095489A>GCA343931411HMCN1c.10541A>G (p.Glu3514Gly)
c.10256A>G (p.Glu3419Gly)
c.8564A>G (p.Glu2855Gly)
1g.186095489A>TCA343931412HMCN1c.10541A>T (p.Glu3514Val)
c.10256A>T (p.Glu3419Val)
c.8564A>T (p.Glu2855Val)
1g.186095490A>CCA343931413HMCN1c.10542A>C (p.Glu3514Asp)
c.10257A>C (p.Glu3419Asp)
c.8565A>C (p.Glu2855Asp)
1g.186095490A>GCA422513834HMCN1c.10542A>G (p.Glu3514=)
c.10257A>G (p.Glu3419=)
c.8565A>G (p.Glu2855=)
1g.186095490A>TCA343931414HMCN1c.10542A>T (p.Glu3514Asp)
c.10257A>T (p.Glu3419Asp)
c.8565A>T (p.Glu2855Asp)
1g.186095491G>ACA343931415HMCN1c.10543G>A (p.Val3515Ile)
c.10258G>A (p.Val3420Ile)
c.8566G>A (p.Val2856Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.186095491G>CCA343931418HMCN1c.10543G>C (p.Val3515Leu)
c.10258G>C (p.Val3420Leu)
c.8566G>C (p.Val2856Leu)
1g.186095491G=CA1212995234HMCN1c.10543G= (p.Val3515=)
c.10258G= (p.Val3420=)
c.8566G= (p.Val2856=)
1g.186095491G>TCA343931417HMCN1c.10543G>T (p.Val3515Phe)
c.10258G>T (p.Val3420Phe)
c.8566G>T (p.Val2856Phe)
1g.186095492T>ACA343931419HMCN1c.10544T>A (p.Val3515Asp)
c.10259T>A (p.Val3420Asp)
c.8567T>A (p.Val2856Asp)
1g.186095492T>CCA343931421HMCN1c.10544T>C (p.Val3515Ala)
c.10259T>C (p.Val3420Ala)
c.8567T>C (p.Val2856Ala)
1g.186095492T>GCA343931422HMCN1c.10544T>G (p.Val3515Gly)
c.10259T>G (p.Val3420Gly)
c.8567T>G (p.Val2856Gly)
1g.186095493C>ACA422513835HMCN1c.10545C>A (p.Val3515=)
c.10260C>A (p.Val3420=)
c.8568C>A (p.Val2856=)
 ClinVar dbSNP
1g.186095493C>GCA422513836HMCN1c.10545C>G (p.Val3515=)
c.10260C>G (p.Val3420=)
c.8568C>G (p.Val2856=)
1g.186095493C>TCA422513837HMCN1c.10545C>T (p.Val3515=)
c.10260C>T (p.Val3420=)
c.8568C>T (p.Val2856=)
 gnomAD v4
1g.186095494A>CCA343931423HMCN1c.10546A>C (p.Ser3516Arg)
c.10261A>C (p.Ser3421Arg)
c.8569A>C (p.Ser2857Arg)
1g.186095494A>GCA343931424HMCN1c.10546A>G (p.Ser3516Gly)
c.10261A>G (p.Ser3421Gly)
c.8569A>G (p.Ser2857Gly)
1g.186095494A>TCA343931426HMCN1c.10546A>T (p.Ser3516Cys)
c.10261A>T (p.Ser3421Cys)
c.8569A>T (p.Ser2857Cys)
1g.186095498_186095501delCA2649556965HMCN1c.10550_10553del (p.Lys3517ThrfsTer7)
c.10265_10268del (p.Lys3422ThrfsTer7)
c.8573_8576del (p.Lys2858ThrfsTer7)
 gnomAD v4
1g.186095495G>ACA1293744HMCN1c.10547G>A (p.Ser3516Asn)
c.10262G>A (p.Ser3421Asn)
c.8570G>A (p.Ser2857Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.186095495G>CCA343931427HMCN1c.10547G>C (p.Ser3516Thr)
c.10262G>C (p.Ser3421Thr)
c.8570G>C (p.Ser2857Thr)
1g.186095495G=CA1145341369HMCN1c.10547G= (p.Ser3516=)
c.10262G= (p.Ser3421=)
c.8570G= (p.Ser2857=)
1g.186095495G>TCA343931428HMCN1c.10547G>T (p.Ser3516Ile)
c.10262G>T (p.Ser3421Ile)
c.8570G>T (p.Ser2857Ile)
1g.186095496C>ACA343931430HMCN1c.10548C>A (p.Ser3516Arg)
c.10263C>A (p.Ser3421Arg)
c.8571C>A (p.Ser2857Arg)
 gnomAD v4
1g.186095496C>GCA343931432HMCN1c.10548C>G (p.Ser3516Arg)
c.10263C>G (p.Ser3421Arg)
c.8571C>G (p.Ser2857Arg)
1g.186095496C>TCA422513838HMCN1c.10548C>T (p.Ser3516=)
c.10263C>T (p.Ser3421=)
c.8571C>T (p.Ser2857=)
1g.186095497A>CCA343931436HMCN1c.10549A>C (p.Lys3517Gln)
c.10264A>C (p.Lys3422Gln)
c.8572A>C (p.Lys2858Gln)
1g.186095497A>GCA343931438HMCN1c.10549A>G (p.Lys3517Glu)
c.10264A>G (p.Lys3422Glu)
c.8572A>G (p.Lys2858Glu)
1g.186095497A>TCA343931434HMCN1c.10549A>T (p.Lys3517Ter)
c.10264A>T (p.Lys3422Ter)
c.8572A>T (p.Lys2858Ter)
1g.186095498A=CA1212995235HMCN1c.10550A= (p.Lys3517=)
c.10265A= (p.Lys3422=)
c.8573A= (p.Lys2858=)

Number of alleles fetched