| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.186003708T>G | CA728679215 | HMCN1 | c.4349-10T>G (n.4349-10T>G) c.2372-10T>G (n.2372-10T>G) | dbSNP |
| 1 | g.186003708T= | CA1212957653 | HMCN1 | c.4349-10T= (n.4349-10T=) c.2372-10T= (n.2372-10T=) | |
| 1 | g.186003709T>C | CA2649551394 | HMCN1 | c.4349-9T>C (n.4349-9T>C) c.2372-9T>C (n.2372-9T>C) | gnomAD v4 |
| 1 | g.186003710T>C | CA2697645179 | HMCN1 | c.4349-8T>C (n.4349-8T>C) c.2372-8T>C (n.2372-8T>C) | dbSNP |
| 1 | g.186003711G>A | CA2649551395 | HMCN1 | c.4349-7G>A (n.4349-7G>A) c.2372-7G>A (n.2372-7G>A) | gnomAD v4 |
| 1 | g.186003711G= | CA1212957654 | HMCN1 | c.4349-7G= (n.4349-7G=) c.2372-7G= (n.2372-7G=) | |
| 1 | g.186003711G>T | CA1010086153 | HMCN1 | c.4349-7G>T (n.4349-7G>T) c.2372-7G>T (n.2372-7G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.186003715A>C | CA3054205645 | HMCN1 | c.4349-3A>C (n.4349-3A>C) c.2372-3A>C (n.2372-3A>C) | ClinVar |
| 1 | g.186003715A>G | CA2649551396 | HMCN1 | c.4349-3A>G (n.4349-3A>G) c.2372-3A>G (n.2372-3A>G) | gnomAD v4 |
| 1 | g.186003716A>C | CA343878299 | HMCN1 | c.4349-2A>C (n.4349-2A>C) c.2372-2A>C (n.2372-2A>C) | |
| 1 | g.186003716A>G | CA343878305 | HMCN1 | c.4349-2A>G (n.4349-2A>G) c.2372-2A>G (n.2372-2A>G) | |
| 1 | g.186003716A>T | CA343878307 | HMCN1 | c.4349-2A>T (n.4349-2A>T) c.2372-2A>T (n.2372-2A>T) | |
| 1 | g.186003717G>A | CA343878314 | HMCN1 | c.4349-1G>A (n.4349-1G>A) c.2372-1G>A (n.2372-1G>A) | gnomAD v4 |
| 1 | g.186003717G>C | CA343878313 | HMCN1 | c.4349-1G>C (n.4349-1G>C) c.2372-1G>C (n.2372-1G>C) | |
| 1 | g.186003717G>T | CA343878312 | HMCN1 | c.4349-1G>T (n.4349-1G>T) c.2372-1G>T (n.2372-1G>T) | gnomAD v4 |
| 1 | g.186003718T>A | CA343878325 | HMCN1 | c.4349T>A (p.Val1450Asp) c.2372T>A (p.Val791Asp) | |
| 1 | g.186003718T>C | CA343878326 | HMCN1 | c.4349T>C (p.Val1450Ala) c.2372T>C (p.Val791Ala) | |
| 1 | g.186003718T>G | CA343878327 | HMCN1 | c.4349T>G (p.Val1450Gly) c.2372T>G (p.Val791Gly) | |
| 1 | g.186003719T>A | CA422324883 | HMCN1 | c.4350T>A (p.Val1450=) c.2373T>A (p.Val791=) | |
| 1 | g.186003719T>C | CA422324886 | HMCN1 | c.4350T>C (p.Val1450=) c.2373T>C (p.Val791=) | |
| 1 | g.186003719T>G | CA422324888 | HMCN1 | c.4350T>G (p.Val1450=) c.2373T>G (p.Val791=) | |
| 1 | g.186003720C>A | CA343878329 | HMCN1 | c.4351C>A (p.Pro1451Thr) c.2374C>A (p.Pro792Thr) | COSMIC |
| 1 | g.186003720C>G | CA343878334 | HMCN1 | c.4351C>G (p.Pro1451Ala) c.2374C>G (p.Pro792Ala) | dbSNP gnomAD v4 COSMIC |
| 1 | g.186003720C>T | CA343878335 | HMCN1 | c.4351C>T (p.Pro1451Ser) c.2374C>T (p.Pro792Ser) | |
| 1 | g.186003721C>A | CA343878336 | HMCN1 | c.4352C>A (p.Pro1451Gln) c.2375C>A (p.Pro792Gln) | |
| 1 | g.186003721C= | CA1212957655 | HMCN1 | c.4352C= (p.Pro1451=) c.2375C= (p.Pro792=) | |
| 1 | g.186003721C>G | CA343878337 | HMCN1 | c.4352C>G (p.Pro1451Arg) c.2375C>G (p.Pro792Arg) | |
| 1 | g.186003721C>T | CA10608535 | HMCN1 | c.4352C>T (p.Pro1451Leu) c.2375C>T (p.Pro792Leu) | ClinVar dbSNP |
| 1 | g.186003722del | CA2506505518 | HMCN1 | c.4353del (p.Thr1453ProfsTer2) c.2376del (p.Thr794ProfsTer2) | |
| 1 | g.186003722A= | CA1212957656 | HMCN1 | c.4353A= (p.Pro1451=) c.2376A= (p.Pro792=) | |
| 1 | g.186003722A>C | CA422324906 | HMCN1 | c.4353A>C (p.Pro1451=) c.2376A>C (p.Pro792=) | dbSNP |
| 1 | g.186003722A>G | CA422324909 | HMCN1 | c.4353A>G (p.Pro1451=) c.2376A>G (p.Pro792=) | ClinVar |
| 1 | g.186003722A>T | CA422324912 | HMCN1 | c.4353A>T (p.Pro1451=) c.2376A>T (p.Pro792=) | |
| 1 | g.186003723C>A | CA343878339 | HMCN1 | c.4354C>A (p.Pro1452Thr) c.2377C>A (p.Pro793Thr) | |
| 1 | g.186003723C= | CA1212957657 | HMCN1 | c.4354C= (p.Pro1452=) c.2377C= (p.Pro793=) | |
| 1 | g.186003723C>G | CA343878346 | HMCN1 | c.4354C>G (p.Pro1452Ala) c.2377C>G (p.Pro793Ala) | |
| 1 | g.186003723C>T | CA33446684 | HMCN1 | c.4354C>T (p.Pro1452Ser) c.2377C>T (p.Pro793Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.186003724C>A | CA343878353 | HMCN1 | c.4355C>A (p.Pro1452His) c.2378C>A (p.Pro793His) | COSMIC |
| 1 | g.186003724C>G | CA343878355 | HMCN1 | c.4355C>G (p.Pro1452Arg) c.2378C>G (p.Pro793Arg) | gnomAD v4 |
| 1 | g.186003724C>T | CA343878357 | HMCN1 | c.4355C>T (p.Pro1452Leu) c.2378C>T (p.Pro793Leu) | gnomAD v4 |
| 1 | g.186003725C>A | CA422324933 | HMCN1 | c.4356C>A (p.Pro1452=) c.2379C>A (p.Pro793=) | COSMIC |
| 1 | g.186003725C>G | CA422324936 | HMCN1 | c.4356C>G (p.Pro1452=) c.2379C>G (p.Pro793=) | |
| 1 | g.186003725C>T | CA422324939 | HMCN1 | c.4356C>T (p.Pro1452=) c.2379C>T (p.Pro793=) | gnomAD v4 |
| 1 | g.186003726A>C | CA343878358 | HMCN1 | c.4357A>C (p.Thr1453Pro) c.2380A>C (p.Thr794Pro) | |
| 1 | g.186003726A>G | CA343878359 | HMCN1 | c.4357A>G (p.Thr1453Ala) c.2380A>G (p.Thr794Ala) | |
| 1 | g.186003726A>T | CA343878361 | HMCN1 | c.4357A>T (p.Thr1453Ser) c.2380A>T (p.Thr794Ser) | |
| 1 | g.186003727C>A | CA1291983 | HMCN1 | c.4358C>A (p.Thr1453Asn) c.2381C>A (p.Thr794Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.186003727C= | CA1212957658 | HMCN1 | c.4358C= (p.Thr1453=) c.2381C= (p.Thr794=) | |
| 1 | g.186003727C>G | CA343878366 | HMCN1 | c.4358C>G (p.Thr1453Ser) c.2381C>G (p.Thr794Ser) | |
| 1 | g.186003727C>T | CA343878371 | HMCN1 | c.4358C>T (p.Thr1453Ile) c.2381C>T (p.Thr794Ile) |