Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.186130048C>ACA1294516HMCN1c.12987C>A (p.Thr4329=)
c.12702C>A (p.Thr4234=)
c.11010C>A (p.Thr3670=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.186130048C=CA1140614740HMCN1c.12987C= (p.Thr4329=)
c.12702C= (p.Thr4234=)
c.11010C= (p.Thr3670=)
1g.186130048C>GCA422330591HMCN1c.12987C>G (p.Thr4329=)
c.12702C>G (p.Thr4234=)
c.11010C>G (p.Thr3670=)
1g.186130048C>TCA1294515HMCN1c.12987C>T (p.Thr4329=)
c.12702C>T (p.Thr4234=)
c.11010C>T (p.Thr3670=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.186130049G>ACA1294517HMCN1c.12988G>A (p.Ala4330Thr)
c.12703G>A (p.Ala4235Thr)
c.11011G>A (p.Ala3671Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.186130049G>CCA343907158HMCN1c.12988G>C (p.Ala4330Pro)
c.12703G>C (p.Ala4235Pro)
c.11011G>C (p.Ala3671Pro)
1g.186130049G=CA1143508978HMCN1c.12988G= (p.Ala4330=)
c.12703G= (p.Ala4235=)
c.11011G= (p.Ala3671=)
1g.186130049G>TCA343907156HMCN1c.12988G>T (p.Ala4330Ser)
c.12703G>T (p.Ala4235Ser)
c.11011G>T (p.Ala3671Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.186130050C>ACA343907165HMCN1c.12989C>A (p.Ala4330Glu)
c.12704C>A (p.Ala4235Glu)
c.11012C>A (p.Ala3671Glu)
1g.186130050C>GCA343907161HMCN1c.12989C>G (p.Ala4330Gly)
c.12704C>G (p.Ala4235Gly)
c.11012C>G (p.Ala3671Gly)
1g.186130050C>TCA343907163HMCN1c.12989C>T (p.Ala4330Val)
c.12704C>T (p.Ala4235Val)
c.11012C>T (p.Ala3671Val)
ClinVar gnomAD v4
1g.186130051A>CCA422330592HMCN1c.12990A>C (p.Ala4330=)
c.12705A>C (p.Ala4235=)
c.11013A>C (p.Ala3671=)
1g.186130051A>GCA422330593HMCN1c.12990A>G (p.Ala4330=)
c.12705A>G (p.Ala4235=)
c.11013A>G (p.Ala3671=)
1g.186130051A>TCA422330594HMCN1c.12990A>T (p.Ala4330=)
c.12705A>T (p.Ala4235=)
c.11013A>T (p.Ala3671=)
1g.186130052G>ACA343907167HMCN1c.12991G>A (p.Glu4331Lys)
c.12706G>A (p.Glu4236Lys)
c.11014G>A (p.Glu3672Lys)
1g.186130052G>CCA343907169HMCN1c.12991G>C (p.Glu4331Gln)
c.12706G>C (p.Glu4236Gln)
c.11014G>C (p.Glu3672Gln)
1g.186130052G>TCA343907171HMCN1c.12991G>T (p.Glu4331Ter)
c.12706G>T (p.Glu4236Ter)
c.11014G>T (p.Glu3672Ter)
1g.186130053A>CCA343907173HMCN1c.12992A>C (p.Glu4331Ala)
c.12707A>C (p.Glu4236Ala)
c.11015A>C (p.Glu3672Ala)
1g.186130053A>GCA343907175HMCN1c.12992A>G (p.Glu4331Gly)
c.12707A>G (p.Glu4236Gly)
c.11015A>G (p.Glu3672Gly)
gnomAD v4
1g.186130053A>TCA343907177HMCN1c.12992A>T (p.Glu4331Val)
c.12707A>T (p.Glu4236Val)
c.11015A>T (p.Glu3672Val)
1g.186130054G>ACA422330595HMCN1c.12993G>A (p.Glu4331=)
c.12708G>A (p.Glu4236=)
c.11016G>A (p.Glu3672=)
1g.186130054G>CCA343907179HMCN1c.12993G>C (p.Glu4331Asp)
c.12708G>C (p.Glu4236Asp)
c.11016G>C (p.Glu3672Asp)
1g.186130054G>TCA343907181HMCN1c.12993G>T (p.Glu4331Asp)
c.12708G>T (p.Glu4236Asp)
c.11016G>T (p.Glu3672Asp)
1g.186130055A>CCA343907183HMCN1c.12994A>C (p.Asn4332His)
c.12709A>C (p.Asn4237His)
c.11017A>C (p.Asn3673His)
1g.186130055A>GCA343907185HMCN1c.12994A>G (p.Asn4332Asp)
c.12709A>G (p.Asn4237Asp)
c.11017A>G (p.Asn3673Asp)
1g.186130055A>TCA343907187HMCN1c.12994A>T (p.Asn4332Tyr)
c.12709A>T (p.Asn4237Tyr)
c.11017A>T (p.Asn3673Tyr)
1g.186130056A>CCA343907193HMCN1c.12995A>C (p.Asn4332Thr)
c.12710A>C (p.Asn4237Thr)
c.11018A>C (p.Asn3673Thr)
1g.186130056A>GCA343907191HMCN1c.12995A>G (p.Asn4332Ser)
c.12710A>G (p.Asn4237Ser)
c.11018A>G (p.Asn3673Ser)
1g.186130056A>TCA343907189HMCN1c.12995A>T (p.Asn4332Ile)
c.12710A>T (p.Asn4237Ile)
c.11018A>T (p.Asn3673Ile)
1g.186130057C>ACA343907195HMCN1c.12996C>A (p.Asn4332Lys)
c.12711C>A (p.Asn4237Lys)
c.11019C>A (p.Asn3673Lys)
1g.186130057C>GCA343907197HMCN1c.12996C>G (p.Asn4332Lys)
c.12711C>G (p.Asn4237Lys)
c.11019C>G (p.Asn3673Lys)
gnomAD v4
1g.186130057C>TCA422330596HMCN1c.12996C>T (p.Asn4332=)
c.12711C>T (p.Asn4237=)
c.11019C>T (p.Asn3673=)
gnomAD v4
1g.186130058A>CCA343907199HMCN1c.12997A>C (p.Ser4333Arg)
c.12712A>C (p.Ser4238Arg)
c.11020A>C (p.Ser3674Arg)
1g.186130058A>GCA343907201HMCN1c.12997A>G (p.Ser4333Gly)
c.12712A>G (p.Ser4238Gly)
c.11020A>G (p.Ser3674Gly)
1g.186130058A>TCA343907203HMCN1c.12997A>T (p.Ser4333Cys)
c.12712A>T (p.Ser4238Cys)
c.11020A>T (p.Ser3674Cys)
1g.186130059G>ACA343907205HMCN1c.12998G>A (p.Ser4333Asn)
c.12713G>A (p.Ser4238Asn)
c.11021G>A (p.Ser3674Asn)
1g.186130059G>CCA343907207HMCN1c.12998G>C (p.Ser4333Thr)
c.12713G>C (p.Ser4238Thr)
c.11021G>C (p.Ser3674Thr)
1g.186130059G>TCA343907209HMCN1c.12998G>T (p.Ser4333Ile)
c.12713G>T (p.Ser4238Ile)
c.11021G>T (p.Ser3674Ile)
1g.186130060C>ACA343907211HMCN1c.12999C>A (p.Ser4333Arg)
c.12714C>A (p.Ser4238Arg)
c.11022C>A (p.Ser3674Arg)
gnomAD v4
1g.186130060C=CA1213008769HMCN1c.12999C= (p.Ser4333=)
c.12714C= (p.Ser4238=)
c.11022C= (p.Ser3674=)
1g.186130060C>GCA343907213HMCN1c.12999C>G (p.Ser4333Arg)
c.12714C>G (p.Ser4238Arg)
c.11022C>G (p.Ser3674Arg)
1g.186130060C>TCA1294518HMCN1c.12999C>T (p.Ser4333=)
c.12714C>T (p.Ser4238=)
c.11022C>T (p.Ser3674=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.186130061G>ACA343907215HMCN1c.13000G>A (p.Val4334Ile)
c.12715G>A (p.Val4239Ile)
c.11023G>A (p.Val3675Ile)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.186130061G>CCA343907216HMCN1c.13000G>C (p.Val4334Leu)
c.12715G>C (p.Val4239Leu)
c.11023G>C (p.Val3675Leu)
1g.186130061G=CA1213008770HMCN1c.13000G= (p.Val4334=)
c.12715G= (p.Val4239=)
c.11023G= (p.Val3675=)
1g.186130061G>TCA343907218HMCN1c.13000G>T (p.Val4334Phe)
c.12715G>T (p.Val4239Phe)
c.11023G>T (p.Val3675Phe)
gnomAD v4
1g.186130062T>ACA343907222HMCN1c.13001T>A (p.Val4334Asp)
c.12716T>A (p.Val4239Asp)
c.11024T>A (p.Val3675Asp)
1g.186130062T>CCA1294519HMCN1c.13001T>C (p.Val4334Ala)
c.12716T>C (p.Val4239Ala)
c.11024T>C (p.Val3675Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.186130062T>GCA343907220HMCN1c.13001T>G (p.Val4334Gly)
c.12716T>G (p.Val4239Gly)
c.11024T>G (p.Val3675Gly)
1g.186130062T=CA1213008771HMCN1c.13001T= (p.Val4334=)
c.12716T= (p.Val4239=)
c.11024T= (p.Val3675=)

Number of alleles fetched