| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.146018382G>A | CA252250 | HJV | c.976C>T (p.Arg326Ter) c.298C>T (p.Arg100Ter) c.637C>T (p.Arg213Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.146018382G>C | CA342134906 | HJV | c.976C>G (p.Arg326Gly) c.298C>G (p.Arg100Gly) c.637C>G (p.Arg213Gly) | |
| 1 | g.146018382G= | CA1140886747 | HJV | c.976C= (p.Arg326=) c.298C= (p.Arg100=) c.637C= (p.Arg213=) | |
| 1 | g.146018382G>T | CA420603356 | HJV | c.976C>A (p.Arg326=) c.298C>A (p.Arg100=) c.637C>A (p.Arg213=) | |
| 1 | g.146018383C>A | CA342134913 | HJV | c.975G>T (p.Gln325His) c.297G>T (p.Gln99His) c.636G>T (p.Gln212His) | dbSNP |
| 1 | g.146018383C>G | CA342134929 | HJV | c.975G>C (p.Gln325His) c.297G>C (p.Gln99His) c.636G>C (p.Gln212His) | dbSNP gnomAD v4 |
| 1 | g.146018383C>T | CA420603357 | HJV | c.975G>A (p.Gln325=) c.297G>A (p.Gln99=) c.636G>A (p.Gln212=) | |
| 1 | g.146018384T>A | CA342134937 | HJV | c.974A>T (p.Gln325Leu) c.296A>T (p.Gln99Leu) c.635A>T (p.Gln212Leu) | |
| 1 | g.146018384T>C | CA342134940 | HJV | c.974A>G (p.Gln325Arg) c.296A>G (p.Gln99Arg) c.635A>G (p.Gln212Arg) | |
| 1 | g.146018384T>G | CA342134944 | HJV | c.974A>C (p.Gln325Pro) c.296A>C (p.Gln99Pro) c.635A>C (p.Gln212Pro) | |
| 1 | g.146018385G>A | CA342134946 | HJV | c.973C>T (p.Gln325Ter) c.295C>T (p.Gln99Ter) c.634C>T (p.Gln212Ter) | |
| 1 | g.146018385G>C | CA342134947 | HJV | c.973C>G (p.Gln325Glu) c.295C>G (p.Gln99Glu) c.634C>G (p.Gln212Glu) | |
| 1 | g.146018385G>T | CA342134948 | HJV | c.973C>A (p.Gln325Lys) c.295C>A (p.Gln99Lys) c.634C>A (p.Gln212Lys) | |
| 1 | g.146018386A>C | CA342134949 | HJV | c.972T>G (p.Ser324Arg) c.294T>G (p.Ser98Arg) c.633T>G (p.Ser211Arg) | |
| 1 | g.146018386A>G | CA420603359 | HJV | c.972T>C (p.Ser324=) c.294T>C (p.Ser98=) c.633T>C (p.Ser211=) | |
| 1 | g.146018386A>T | CA342134951 | HJV | c.972T>A (p.Ser324Arg) c.294T>A (p.Ser98Arg) c.633T>A (p.Ser211Arg) | |
| 1 | g.146018387C>A | CA342134955 | HJV | c.971G>T (p.Ser324Ile) c.293G>T (p.Ser98Ile) c.632G>T (p.Ser211Ile) | |
| 1 | g.146018387C>G | CA342134958 | HJV | c.971G>C (p.Ser324Thr) c.293G>C (p.Ser98Thr) c.632G>C (p.Ser211Thr) | |
| 1 | g.146018387C>T | CA342134960 | HJV | c.971G>A (p.Ser324Asn) c.293G>A (p.Ser98Asn) c.632G>A (p.Ser211Asn) | gnomAD v4 |
| 1 | g.146018388T>A | CA342134970 | HJV | c.970A>T (p.Ser324Cys) c.292A>T (p.Ser98Cys) c.631A>T (p.Ser211Cys) | |
| 1 | g.146018388T>C | CA342134967 | HJV | c.970A>G (p.Ser324Gly) c.292A>G (p.Ser98Gly) c.631A>G (p.Ser211Gly) | |
| 1 | g.146018388T>G | CA342134965 | HJV | c.970A>C (p.Ser324Arg) c.292A>C (p.Ser98Arg) c.631A>C (p.Ser211Arg) | |
| 1 | g.146018389T>A | CA420603365 | HJV | c.969A>T (p.Pro323=) c.291A>T (p.Pro97=) c.630A>T (p.Pro210=) | |
| 1 | g.146018389T>C | CA420603364 | HJV | c.969A>G (p.Pro323=) c.291A>G (p.Pro97=) c.630A>G (p.Pro210=) | gnomAD v4 |
| 1 | g.146018389T>G | CA420603363 | HJV | c.969A>C (p.Pro323=) c.291A>C (p.Pro97=) c.630A>C (p.Pro210=) | |
| 1 | g.146018390G>A | CA342134973 | HJV | c.968C>T (p.Pro323Leu) c.290C>T (p.Pro97Leu) c.629C>T (p.Pro210Leu) | gnomAD v4 |
| 1 | g.146018390G>C | CA342134979 | HJV | c.968C>G (p.Pro323Arg) c.290C>G (p.Pro97Arg) c.629C>G (p.Pro210Arg) | gnomAD v4 |
| 1 | g.146018390G= | CA1198820947 | HJV | c.968C= (p.Pro323=) c.290C= (p.Pro97=) c.629C= (p.Pro210=) | |
| 1 | g.146018390G>T | CA342134987 | HJV | c.968C>A (p.Pro323Gln) c.290C>A (p.Pro97Gln) c.629C>A (p.Pro210Gln) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.146018391G>A | CA342134990 | HJV | c.967C>T (p.Pro323Ser) c.289C>T (p.Pro97Ser) c.628C>T (p.Pro210Ser) | |
| 1 | g.146018391G>C | CA342135000 | HJV | c.967C>G (p.Pro323Ala) c.289C>G (p.Pro97Ala) c.628C>G (p.Pro210Ala) | |
| 1 | g.146018391G>T | CA342135005 | HJV | c.967C>A (p.Pro323Thr) c.289C>A (p.Pro97Thr) c.628C>A (p.Pro210Thr) | |
| 1 | g.146018392A>C | CA420603369 | HJV | c.966T>G (p.Pro322=) c.288T>G (p.Pro96=) c.627T>G (p.Pro209=) | |
| 1 | g.146018392A>G | CA420603368 | HJV | c.966T>C (p.Pro322=) c.288T>C (p.Pro96=) c.627T>C (p.Pro209=) | |
| 1 | g.146018392A>T | CA420603367 | HJV | c.966T>A (p.Pro322=) c.288T>A (p.Pro96=) c.627T>A (p.Pro209=) | |
| 1 | g.146018393G>A | CA342135014 | HJV | c.965C>T (p.Pro322Leu) c.287C>T (p.Pro96Leu) c.626C>T (p.Pro209Leu) | COSMIC |
| 1 | g.146018393G>C | CA342135018 | HJV | c.965C>G (p.Pro322Arg) c.287C>G (p.Pro96Arg) c.626C>G (p.Pro209Arg) | |
| 1 | g.146018393G>T | CA342135020 | HJV | c.965C>A (p.Pro322His) c.287C>A (p.Pro96His) c.626C>A (p.Pro209His) | |
| 1 | g.146018395del | CA2574047893 | HJV | c.965del (p.Pro322LeufsTer17) c.287del (p.Pro96LeufsTer17) c.626del (p.Pro209LeufsTer17) | |
| 1 | g.146018394G>A | CA342135025 | HJV | c.964C>T (p.Pro322Ser) c.286C>T (p.Pro96Ser) c.625C>T (p.Pro209Ser) | |
| 1 | g.146018394G>C | CA342135031 | HJV | c.964C>G (p.Pro322Ala) c.286C>G (p.Pro96Ala) c.625C>G (p.Pro209Ala) | |
| 1 | g.146018394G= | CA1198820948 | HJV | c.964C= (p.Pro322=) c.286C= (p.Pro96=) c.625C= (p.Pro209=) | |
| 1 | g.146018394G>T | CA342135033 | HJV | c.964C>A (p.Pro322Thr) c.286C>A (p.Pro96Thr) c.625C>A (p.Pro209Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.146018395G>A | CA420603374 | HJV | c.963C>T (p.Cys321=) c.285C>T (p.Cys95=) c.624C>T (p.Cys208=) | |
| 1 | g.146018395G>C | CA1053929 | HJV | c.963C>G (p.Cys321Trp) c.285C>G (p.Cys95Trp) c.624C>G (p.Cys208Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018395G= | CA1141581027 | HJV | c.963C= (p.Cys321=) c.285C= (p.Cys95=) c.624C= (p.Cys208=) | |
| 1 | g.146018395G>T | CA252257 | HJV | c.963C>A (p.Cys321Ter) c.285C>A (p.Cys95Ter) c.624C>A (p.Cys208Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.146018395_146018396delinsTT | CA2586967192 | HJV | c.962_963delinsAA (p.Cys321Ter) c.284_285delinsAA (p.Cys95Ter) c.623_624delinsAA (p.Cys208Ter) | ClinVar |
| 1 | g.146018396C>A | CA29823605 | HJV | c.962G>T (p.Cys321Phe) c.284G>T (p.Cys95Phe) c.623G>T (p.Cys208Phe) | |
| 1 | g.146018396C= | CA1198820949 | HJV | c.962G= (p.Cys321=) c.284G= (p.Cys95=) c.623G= (p.Cys208=) |