Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.186039717_186039723dupCA2649552885HMCN1c.6029-11_6029-5dup (n.6029-11_6029-5dup)
c.4052-11_4052-5dup (n.4052-11_4052-5dup)
gnomAD v4
1g.186039717delCA2649552886HMCN1c.6029-11del (n.6029-11del)
c.4052-11del (n.4052-11del)
gnomAD v4
1g.186039717G=CA1140217038HMCN1c.6029-11G= (n.6029-11G=)
c.4052-11G= (n.4052-11G=)
1g.186039717G>TCA1292446HMCN1c.6029-11G>T (n.6029-11G>T)
c.4052-11G>T (n.4052-11G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.186039717_186039718delinsGTCA1212972411HMCN1c.6029-11_6029-10delinsGT (n.6029-11_6029-10delinsGT)
c.4052-11_4052-10delinsGT (n.4052-11_4052-10delinsGT)
1g.186039718T>CCA2649552887HMCN1c.6029-10T>C (n.6029-10T>C)
c.4052-10T>C (n.4052-10T>C)
gnomAD v4
1g.186039718_186039724delinsTTTTTTTCA1148442358HMCN1c.6029-10_6029-4delinsTTTTTTT (n.6029-10_6029-4delinsTTTTTTT)
c.4052-10_4052-4delinsTTTTTTT (n.4052-10_4052-4delinsTTTTTTT)
1g.186039724dupCA527676295HMCN1c.6029-4dup (n.6029-4dup)
c.4052-4dup (n.4052-4dup)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.186039724delCA1292447HMCN1c.6029-4del (n.6029-4del)
c.4052-4del (n.4052-4del)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.186039719T>GCA2746978752HMCN1c.6029-9T>G (n.6029-9T>G)
c.4052-9T>G (n.4052-9T>G)
1g.186039720T>ACA1292448HMCN1c.6029-8T>A (n.6029-8T>A)
c.4052-8T>A (n.4052-8T>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.186039720T=CA1212972412HMCN1c.6029-8T= (n.6029-8T=)
c.4052-8T= (n.4052-8T=)
1g.186039722T>CCA527676305HMCN1c.6029-6T>C (n.6029-6T>C)
c.4052-6T>C (n.4052-6T>C)
dbSNP gnomAD v2 gnomAD v4
1g.186039722T=CA1212972413HMCN1c.6029-6T= (n.6029-6T=)
c.4052-6T= (n.4052-6T=)
1g.186039724T>CCA1292449HMCN1c.6029-4T>C (n.6029-4T>C)
c.4052-4T>C (n.4052-4T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.186039724T=CA1140217039HMCN1c.6029-4T= (n.6029-4T=)
c.4052-4T= (n.4052-4T=)
1g.186039725C>TCA2697554788HMCN1c.6029-3C>T (n.6029-3C>T)
c.4052-3C>T (n.4052-3C>T)
ClinVar
1g.186039725dupCA1010098872HMCN1c.6029-3dup (n.6029-3dup)
c.4052-3dup (n.4052-3dup)
ClinVar dbSNP gnomAD v4
1g.186039726A>CCA343898576HMCN1c.6029-2A>C (n.6029-2A>C)
c.4052-2A>C (n.4052-2A>C)
1g.186039726A>GCA343898577HMCN1c.6029-2A>G (n.6029-2A>G)
c.4052-2A>G (n.4052-2A>G)
gnomAD v4
1g.186039726A>TCA343898578HMCN1c.6029-2A>T (n.6029-2A>T)
c.4052-2A>T (n.4052-2A>T)
1g.186039727G>ACA343898579HMCN1c.6029-1G>A (n.6029-1G>A)
c.4052-1G>A (n.4052-1G>A)
gnomAD v4
1g.186039727G>CCA343898580HMCN1c.6029-1G>C (n.6029-1G>C)
c.4052-1G>C (n.4052-1G>C)
1g.186039727G>TCA343898581HMCN1c.6029-1G>T (n.6029-1G>T)
c.4052-1G>T (n.4052-1G>T)
gnomAD v4
1g.186039728T>ACA343898584HMCN1c.6029T>A (p.Val2010Glu)
c.4052T>A (p.Val1351Glu)
1g.186039728T>CCA343898583HMCN1c.6029T>C (p.Val2010Ala)
c.4052T>C (p.Val1351Ala)
gnomAD v4
1g.186039728T>GCA343898582HMCN1c.6029T>G (p.Val2010Gly)
c.4052T>G (p.Val1351Gly)
1g.186039729G>ACA422329264HMCN1c.6030G>A (p.Val2010=)
c.4053G>A (p.Val1351=)
dbSNP gnomAD v4
1g.186039729G>CCA422329266HMCN1c.6030G>C (p.Val2010=)
c.4053G>C (p.Val1351=)
1g.186039729G=CA1212972414HMCN1c.6030G= (p.Val2010=)
c.4053G= (p.Val1351=)
1g.186039729G>TCA422329265HMCN1c.6030G>T (p.Val2010=)
c.4053G>T (p.Val1351=)
1g.186039730G>ACA343898585HMCN1c.6031G>A (p.Ala2011Thr)
c.4054G>A (p.Ala1352Thr)
dbSNP gnomAD v2 gnomAD v4
1g.186039730G>CCA343898586HMCN1c.6031G>C (p.Ala2011Pro)
c.4054G>C (p.Ala1352Pro)
1g.186039730G=CA1212972415HMCN1c.6031G= (p.Ala2011=)
c.4054G= (p.Ala1352=)
1g.186039730G>TCA343898587HMCN1c.6031G>T (p.Ala2011Ser)
c.4054G>T (p.Ala1352Ser)
1g.186039730_186039737dupCA2746978753HMCN1c.6031_6038dup (p.Ile2014ProfsTer19)
c.4054_4061dup (p.Ile1355ProfsTer19)
1g.186039731C>ACA1292450HMCN1c.6032C>A (p.Ala2011Asp)
c.4055C>A (p.Ala1352Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.186039731C=CA1212972416HMCN1c.6032C= (p.Ala2011=)
c.4055C= (p.Ala1352=)
1g.186039731C>GCA343898588HMCN1c.6032C>G (p.Ala2011Gly)
c.4055C>G (p.Ala1352Gly)
1g.186039731C>TCA343898589HMCN1c.6032C>T (p.Ala2011Val)
c.4055C>T (p.Ala1352Val)
1g.186039732C>ACA422329267HMCN1c.6033C>A (p.Ala2011=)
c.4056C>A (p.Ala1352=)
1g.186039732C=CA1212972417HMCN1c.6033C= (p.Ala2011=)
c.4056C= (p.Ala1352=)
1g.186039732C>GCA422329268HMCN1c.6033C>G (p.Ala2011=)
c.4056C>G (p.Ala1352=)
1g.186039732C>TCA422329269HMCN1c.6033C>T (p.Ala2011=)
c.4056C>T (p.Ala1352=)
dbSNP
1g.186039733C>ACA343898590HMCN1c.6034C>A (p.Pro2012Thr)
c.4057C>A (p.Pro1353Thr)
1g.186039733C=CA1212972418HMCN1c.6034C= (p.Pro2012=)
c.4057C= (p.Pro1353=)
1g.186039733C>GCA1292451HMCN1c.6034C>G (p.Pro2012Ala)
c.4057C>G (p.Pro1353Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.186039733C>TCA343898591HMCN1c.6034C>T (p.Pro2012Ser)
c.4057C>T (p.Pro1353Ser)
1g.186039734C>ACA343898592HMCN1c.6035C>A (p.Pro2012Gln)
c.4058C>A (p.Pro1353Gln)
1g.186039734C>GCA343898593HMCN1c.6035C>G (p.Pro2012Arg)
c.4058C>G (p.Pro1353Arg)

Number of alleles fetched