| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.186039717_186039723dup | CA2649552885 | HMCN1 | c.6029-11_6029-5dup (n.6029-11_6029-5dup) c.4052-11_4052-5dup (n.4052-11_4052-5dup) | gnomAD v4 |
| 1 | g.186039717del | CA2649552886 | HMCN1 | c.6029-11del (n.6029-11del) c.4052-11del (n.4052-11del) | gnomAD v4 |
| 1 | g.186039717G= | CA1140217038 | HMCN1 | c.6029-11G= (n.6029-11G=) c.4052-11G= (n.4052-11G=) | |
| 1 | g.186039717G>T | CA1292446 | HMCN1 | c.6029-11G>T (n.6029-11G>T) c.4052-11G>T (n.4052-11G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.186039717_186039718delinsGT | CA1212972411 | HMCN1 | c.6029-11_6029-10delinsGT (n.6029-11_6029-10delinsGT) c.4052-11_4052-10delinsGT (n.4052-11_4052-10delinsGT) | |
| 1 | g.186039718T>C | CA2649552887 | HMCN1 | c.6029-10T>C (n.6029-10T>C) c.4052-10T>C (n.4052-10T>C) | gnomAD v4 |
| 1 | g.186039718_186039724delinsTTTTTTT | CA1148442358 | HMCN1 | c.6029-10_6029-4delinsTTTTTTT (n.6029-10_6029-4delinsTTTTTTT) c.4052-10_4052-4delinsTTTTTTT (n.4052-10_4052-4delinsTTTTTTT) | |
| 1 | g.186039724dup | CA527676295 | HMCN1 | c.6029-4dup (n.6029-4dup) c.4052-4dup (n.4052-4dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.186039724del | CA1292447 | HMCN1 | c.6029-4del (n.6029-4del) c.4052-4del (n.4052-4del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.186039719T>G | CA2746978752 | HMCN1 | c.6029-9T>G (n.6029-9T>G) c.4052-9T>G (n.4052-9T>G) | |
| 1 | g.186039720T>A | CA1292448 | HMCN1 | c.6029-8T>A (n.6029-8T>A) c.4052-8T>A (n.4052-8T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.186039720T= | CA1212972412 | HMCN1 | c.6029-8T= (n.6029-8T=) c.4052-8T= (n.4052-8T=) | |
| 1 | g.186039722T>C | CA527676305 | HMCN1 | c.6029-6T>C (n.6029-6T>C) c.4052-6T>C (n.4052-6T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.186039722T= | CA1212972413 | HMCN1 | c.6029-6T= (n.6029-6T=) c.4052-6T= (n.4052-6T=) | |
| 1 | g.186039724T>C | CA1292449 | HMCN1 | c.6029-4T>C (n.6029-4T>C) c.4052-4T>C (n.4052-4T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.186039724T= | CA1140217039 | HMCN1 | c.6029-4T= (n.6029-4T=) c.4052-4T= (n.4052-4T=) | |
| 1 | g.186039725C>T | CA2697554788 | HMCN1 | c.6029-3C>T (n.6029-3C>T) c.4052-3C>T (n.4052-3C>T) | ClinVar |
| 1 | g.186039725dup | CA1010098872 | HMCN1 | c.6029-3dup (n.6029-3dup) c.4052-3dup (n.4052-3dup) | ClinVar dbSNP gnomAD v4 |
| 1 | g.186039726A>C | CA343898576 | HMCN1 | c.6029-2A>C (n.6029-2A>C) c.4052-2A>C (n.4052-2A>C) | |
| 1 | g.186039726A>G | CA343898577 | HMCN1 | c.6029-2A>G (n.6029-2A>G) c.4052-2A>G (n.4052-2A>G) | gnomAD v4 |
| 1 | g.186039726A>T | CA343898578 | HMCN1 | c.6029-2A>T (n.6029-2A>T) c.4052-2A>T (n.4052-2A>T) | |
| 1 | g.186039727G>A | CA343898579 | HMCN1 | c.6029-1G>A (n.6029-1G>A) c.4052-1G>A (n.4052-1G>A) | gnomAD v4 |
| 1 | g.186039727G>C | CA343898580 | HMCN1 | c.6029-1G>C (n.6029-1G>C) c.4052-1G>C (n.4052-1G>C) | |
| 1 | g.186039727G>T | CA343898581 | HMCN1 | c.6029-1G>T (n.6029-1G>T) c.4052-1G>T (n.4052-1G>T) | gnomAD v4 |
| 1 | g.186039728T>A | CA343898584 | HMCN1 | c.6029T>A (p.Val2010Glu) c.4052T>A (p.Val1351Glu) | |
| 1 | g.186039728T>C | CA343898583 | HMCN1 | c.6029T>C (p.Val2010Ala) c.4052T>C (p.Val1351Ala) | gnomAD v4 |
| 1 | g.186039728T>G | CA343898582 | HMCN1 | c.6029T>G (p.Val2010Gly) c.4052T>G (p.Val1351Gly) | |
| 1 | g.186039729G>A | CA422329264 | HMCN1 | c.6030G>A (p.Val2010=) c.4053G>A (p.Val1351=) | dbSNP gnomAD v4 |
| 1 | g.186039729G>C | CA422329266 | HMCN1 | c.6030G>C (p.Val2010=) c.4053G>C (p.Val1351=) | |
| 1 | g.186039729G= | CA1212972414 | HMCN1 | c.6030G= (p.Val2010=) c.4053G= (p.Val1351=) | |
| 1 | g.186039729G>T | CA422329265 | HMCN1 | c.6030G>T (p.Val2010=) c.4053G>T (p.Val1351=) | |
| 1 | g.186039730G>A | CA343898585 | HMCN1 | c.6031G>A (p.Ala2011Thr) c.4054G>A (p.Ala1352Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.186039730G>C | CA343898586 | HMCN1 | c.6031G>C (p.Ala2011Pro) c.4054G>C (p.Ala1352Pro) | |
| 1 | g.186039730G= | CA1212972415 | HMCN1 | c.6031G= (p.Ala2011=) c.4054G= (p.Ala1352=) | |
| 1 | g.186039730G>T | CA343898587 | HMCN1 | c.6031G>T (p.Ala2011Ser) c.4054G>T (p.Ala1352Ser) | |
| 1 | g.186039730_186039737dup | CA2746978753 | HMCN1 | c.6031_6038dup (p.Ile2014ProfsTer19) c.4054_4061dup (p.Ile1355ProfsTer19) | |
| 1 | g.186039731C>A | CA1292450 | HMCN1 | c.6032C>A (p.Ala2011Asp) c.4055C>A (p.Ala1352Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.186039731C= | CA1212972416 | HMCN1 | c.6032C= (p.Ala2011=) c.4055C= (p.Ala1352=) | |
| 1 | g.186039731C>G | CA343898588 | HMCN1 | c.6032C>G (p.Ala2011Gly) c.4055C>G (p.Ala1352Gly) | |
| 1 | g.186039731C>T | CA343898589 | HMCN1 | c.6032C>T (p.Ala2011Val) c.4055C>T (p.Ala1352Val) | |
| 1 | g.186039732C>A | CA422329267 | HMCN1 | c.6033C>A (p.Ala2011=) c.4056C>A (p.Ala1352=) | |
| 1 | g.186039732C= | CA1212972417 | HMCN1 | c.6033C= (p.Ala2011=) c.4056C= (p.Ala1352=) | |
| 1 | g.186039732C>G | CA422329268 | HMCN1 | c.6033C>G (p.Ala2011=) c.4056C>G (p.Ala1352=) | |
| 1 | g.186039732C>T | CA422329269 | HMCN1 | c.6033C>T (p.Ala2011=) c.4056C>T (p.Ala1352=) | dbSNP |
| 1 | g.186039733C>A | CA343898590 | HMCN1 | c.6034C>A (p.Pro2012Thr) c.4057C>A (p.Pro1353Thr) | |
| 1 | g.186039733C= | CA1212972418 | HMCN1 | c.6034C= (p.Pro2012=) c.4057C= (p.Pro1353=) | |
| 1 | g.186039733C>G | CA1292451 | HMCN1 | c.6034C>G (p.Pro2012Ala) c.4057C>G (p.Pro1353Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.186039733C>T | CA343898591 | HMCN1 | c.6034C>T (p.Pro2012Ser) c.4057C>T (p.Pro1353Ser) | |
| 1 | g.186039734C>A | CA343898592 | HMCN1 | c.6035C>A (p.Pro2012Gln) c.4058C>A (p.Pro1353Gln) | |
| 1 | g.186039734C>G | CA343898593 | HMCN1 | c.6035C>G (p.Pro2012Arg) c.4058C>G (p.Pro1353Arg) |