| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.186003808C>A | CA343878943 | HMCN1 | c.4439C>A (p.Thr1480Asn) c.2462C>A (p.Thr821Asn) | |
| 1 | g.186003808C= | CA1140670625 | HMCN1 | c.4439C= (p.Thr1480=) c.2462C= (p.Thr821=) | |
| 1 | g.186003808C>G | CA343878944 | HMCN1 | c.4439C>G (p.Thr1480Ser) c.2462C>G (p.Thr821Ser) | |
| 1 | g.186003808C>T | CA1292003 | HMCN1 | c.4439C>T (p.Thr1480Ile) c.2462C>T (p.Thr821Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.186003809T>A | CA1292004 | HMCN1 | c.4440T>A (p.Thr1480=) c.2463T>A (p.Thr821=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.186003809T>C | CA10608516 | HMCN1 | c.4440T>C (p.Thr1480=) c.2463T>C (p.Thr821=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.186003809T>G | CA422325456 | HMCN1 | c.4440T>G (p.Thr1480=) c.2463T>G (p.Thr821=) | |
| 1 | g.186003809T= | CA1212957686 | HMCN1 | c.4440T= (p.Thr1480=) c.2463T= (p.Thr821=) | |
| 1 | g.186003810C>A | CA343878954 | HMCN1 | c.4441C>A (p.Pro1481Thr) c.2464C>A (p.Pro822Thr) | gnomAD v4 |
| 1 | g.186003810C= | CA1212957687 | HMCN1 | c.4441C= (p.Pro1481=) c.2464C= (p.Pro822=) | |
| 1 | g.186003810C>G | CA343878957 | HMCN1 | c.4441C>G (p.Pro1481Ala) c.2464C>G (p.Pro822Ala) | |
| 1 | g.186003810C>T | CA343878959 | HMCN1 | c.4441C>T (p.Pro1481Ser) c.2464C>T (p.Pro822Ser) | dbSNP gnomAD v4 |
| 1 | g.186003812dup | CA2993374549 | HMCN1 | c.4443dup (p.Phe1482LeufsTer3) c.2466dup (p.Phe823LeufsTer3) | |
| 1 | g.186003811C>A | CA343878963 | HMCN1 | c.4442C>A (p.Pro1481His) c.2465C>A (p.Pro822His) | |
| 1 | g.186003811C>G | CA343878965 | HMCN1 | c.4442C>G (p.Pro1481Arg) c.2465C>G (p.Pro822Arg) | gnomAD v4 |
| 1 | g.186003811C>T | CA343878964 | HMCN1 | c.4442C>T (p.Pro1481Leu) c.2465C>T (p.Pro822Leu) | |
| 1 | g.186003812C>A | CA422325464 | HMCN1 | c.4443C>A (p.Pro1481=) c.2466C>A (p.Pro822=) | |
| 1 | g.186003812C= | CA1212957688 | HMCN1 | c.4443C= (p.Pro1481=) c.2466C= (p.Pro822=) | |
| 1 | g.186003812C>G | CA422325466 | HMCN1 | c.4443C>G (p.Pro1481=) c.2466C>G (p.Pro822=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.186003812C>T | CA422325469 | HMCN1 | c.4443C>T (p.Pro1481=) c.2466C>T (p.Pro822=) | gnomAD v4 |
| 1 | g.186003813T>A | CA343878966 | HMCN1 | c.4444T>A (p.Phe1482Ile) c.2467T>A (p.Phe823Ile) | |
| 1 | g.186003813T>C | CA343878967 | HMCN1 | c.4444T>C (p.Phe1482Leu) c.2467T>C (p.Phe823Leu) | |
| 1 | g.186003813T>G | CA343878969 | HMCN1 | c.4444T>G (p.Phe1482Val) c.2467T>G (p.Phe823Val) | |
| 1 | g.186003814T>A | CA343878971 | HMCN1 | c.4445T>A (p.Phe1482Tyr) c.2468T>A (p.Phe823Tyr) | |
| 1 | g.186003814T>C | CA343878974 | HMCN1 | c.4445T>C (p.Phe1482Ser) c.2468T>C (p.Phe823Ser) | |
| 1 | g.186003814T>G | CA343878977 | HMCN1 | c.4445T>G (p.Phe1482Cys) c.2468T>G (p.Phe823Cys) | |
| 1 | g.186003815T>A | CA343878979 | HMCN1 | c.4446T>A (p.Phe1482Leu) c.2469T>A (p.Phe823Leu) | |
| 1 | g.186003815T>C | CA10608536 | HMCN1 | c.4446T>C (p.Phe1482=) c.2469T>C (p.Phe823=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.186003815T>G | CA343878980 | HMCN1 | c.4446T>G (p.Phe1482Leu) c.2469T>G (p.Phe823Leu) | |
| 1 | g.186003815T= | CA1212957689 | HMCN1 | c.4446T= (p.Phe1482=) c.2469T= (p.Phe823=) | |
| 1 | g.186003816C>A | CA343878981 | HMCN1 | c.4447C>A (p.Pro1483Thr) c.2470C>A (p.Pro824Thr) | gnomAD v4 |
| 1 | g.186003816C>G | CA343878982 | HMCN1 | c.4447C>G (p.Pro1483Ala) c.2470C>G (p.Pro824Ala) | |
| 1 | g.186003816C>T | CA343878983 | HMCN1 | c.4447C>T (p.Pro1483Ser) c.2470C>T (p.Pro824Ser) | COSMIC |
| 1 | g.186003817C>A | CA343878995 | HMCN1 | c.4448C>A (p.Pro1483His) c.2471C>A (p.Pro824His) | |
| 1 | g.186003817C>G | CA343878985 | HMCN1 | c.4448C>G (p.Pro1483Arg) c.2471C>G (p.Pro824Arg) | |
| 1 | g.186003817C>T | CA343878992 | HMCN1 | c.4448C>T (p.Pro1483Leu) c.2471C>T (p.Pro824Leu) | |
| 1 | g.186003818T>A | CA422325495 | HMCN1 | c.4449T>A (p.Pro1483=) c.2472T>A (p.Pro824=) | |
| 1 | g.186003818T>C | CA422325498 | HMCN1 | c.4449T>C (p.Pro1483=) c.2472T>C (p.Pro824=) | |
| 1 | g.186003818T>G | CA422325500 | HMCN1 | c.4449T>G (p.Pro1483=) c.2472T>G (p.Pro824=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.186003818T= | CA1212957690 | HMCN1 | c.4449T= (p.Pro1483=) c.2472T= (p.Pro824=) | |
| 1 | g.186003819G>A | CA343879000 | HMCN1 | c.4450G>A (p.Asp1484Asn) c.2473G>A (p.Asp825Asn) | |
| 1 | g.186003819G>C | CA343879002 | HMCN1 | c.4450G>C (p.Asp1484His) c.2473G>C (p.Asp825His) | |
| 1 | g.186003819G>T | CA343879004 | HMCN1 | c.4450G>T (p.Asp1484Tyr) c.2473G>T (p.Asp825Tyr) | |
| 1 | g.186003820A>C | CA343879008 | HMCN1 | c.4451A>C (p.Asp1484Ala) c.2474A>C (p.Asp825Ala) | |
| 1 | g.186003820A>G | CA343879012 | HMCN1 | c.4451A>G (p.Asp1484Gly) c.2474A>G (p.Asp825Gly) | |
| 1 | g.186003820A>T | CA343879015 | HMCN1 | c.4451A>T (p.Asp1484Val) c.2474A>T (p.Asp825Val) | |
| 1 | g.186003821T>A | CA343879016 | HMCN1 | c.4452T>A (p.Asp1484Glu) c.2475T>A (p.Asp825Glu) | gnomAD v4 |
| 1 | g.186003821T>C | CA422325513 | HMCN1 | c.4452T>C (p.Asp1484=) c.2475T>C (p.Asp825=) | |
| 1 | g.186003821T>G | CA343879017 | HMCN1 | c.4452T>G (p.Asp1484Glu) c.2475T>G (p.Asp825Glu) | |
| 1 | g.186003822A>C | CA343879018 | HMCN1 | c.4453A>C (p.Ile1485Leu) c.2476A>C (p.Ile826Leu) |