| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.146018591_146018593delinsTCA | CA1198821026 | HJV | c.765_767delinsTGA (p.Gly255=) c.87_89delinsTGA (p.Gly29=) c.426_428delinsTGA (p.Gly142=) c.*29_*31delinsTGA (n.*29_*31delinsTGA) | |
| 1 | g.146018593_146018594del | CA342137180 | HJV | c.765_766del (p.Asp256ProfsTer13) c.87_88del (p.Asp30ProfsTer13) c.426_427del (p.Asp143ProfsTer13) c.*29_*30del (n.*29_*30del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.146018593A>C | CA420603335 | HJV | c.765T>G (p.Gly255=) c.87T>G (p.Gly29=) c.426T>G (p.Gly142=) c.*29T>G (n.*29T>G) | |
| 1 | g.146018593A>G | CA420603334 | HJV | c.765T>C (p.Gly255=) c.87T>C (p.Gly29=) c.426T>C (p.Gly142=) c.*29T>C (n.*29T>C) | |
| 1 | g.146018593A>T | CA420603331 | HJV | c.765T>A (p.Gly255=) c.87T>A (p.Gly29=) c.426T>A (p.Gly142=) c.*29T>A (n.*29T>A) | |
| 1 | g.146018594C>A | CA342137186 | HJV | c.764G>T (p.Gly255Val) c.86G>T (p.Gly29Val) c.425G>T (p.Gly142Val) c.*28G>T (n.*28G>T) | |
| 1 | g.146018594C= | CA1198821028 | HJV | c.764G= (p.Gly255=) c.86G= (p.Gly29=) c.425G= (p.Gly142=) c.*28G= (n.*28G=) | |
| 1 | g.146018594C>G | CA342137193 | HJV | c.764G>C (p.Gly255Ala) c.86G>C (p.Gly29Ala) c.425G>C (p.Gly142Ala) c.*28G>C (n.*28G>C) | |
| 1 | g.146018594C>T | CA342137189 | HJV | c.764G>A (p.Gly255Asp) c.86G>A (p.Gly29Asp) c.425G>A (p.Gly142Asp) c.*28G>A (n.*28G>A) | dbSNP gnomAD v4 |
| 1 | g.146018595C>A | CA342137196 | HJV | c.763G>T (p.Gly255Cys) c.85G>T (p.Gly29Cys) c.424G>T (p.Gly142Cys) c.*27G>T (n.*27G>T) | |
| 1 | g.146018595C>G | CA342137200 | HJV | c.763G>C (p.Gly255Arg) c.85G>C (p.Gly29Arg) c.424G>C (p.Gly142Arg) c.*27G>C (n.*27G>C) | |
| 1 | g.146018595C>T | CA342137210 | HJV | c.763G>A (p.Gly255Ser) c.85G>A (p.Gly29Ser) c.424G>A (p.Gly142Ser) c.*27G>A (n.*27G>A) | gnomAD v4 |
| 1 | g.146018596T>A | CA420603343 | HJV | c.762A>T (p.Gly254=) c.84A>T (p.Gly28=) c.423A>T (p.Gly141=) c.*26A>T (n.*26A>T) | |
| 1 | g.146018596T>C | CA420603342 | HJV | c.762A>G (p.Gly254=) c.84A>G (p.Gly28=) c.423A>G (p.Gly141=) c.*26A>G (n.*26A>G) | |
| 1 | g.146018596T>G | CA420603341 | HJV | c.762A>C (p.Gly254=) c.84A>C (p.Gly28=) c.423A>C (p.Gly141=) c.*26A>C (n.*26A>C) | |
| 1 | g.146018597C>A | CA342137213 | HJV | c.761G>T (p.Gly254Val) c.83G>T (p.Gly28Val) c.422G>T (p.Gly141Val) c.*25G>T (n.*25G>T) | |
| 1 | g.146018597C>G | CA342137215 | HJV | c.761G>C (p.Gly254Ala) c.83G>C (p.Gly28Ala) c.422G>C (p.Gly141Ala) c.*25G>C (n.*25G>C) | |
| 1 | g.146018597C>T | CA342137220 | HJV | c.761G>A (p.Gly254Glu) c.83G>A (p.Gly28Glu) c.422G>A (p.Gly141Glu) c.*25G>A (n.*25G>A) | |
| 1 | g.146018598C>A | CA342137227 | HJV | c.760G>T (p.Gly254Ter) c.82G>T (p.Gly28Ter) c.421G>T (p.Gly141Ter) c.*24G>T (n.*24G>T) | |
| 1 | g.146018598C>G | CA342137232 | HJV | c.760G>C (p.Gly254Arg) c.82G>C (p.Gly28Arg) c.421G>C (p.Gly141Arg) c.*24G>C (n.*24G>C) | |
| 1 | g.146018598C>T | CA342137234 | HJV | c.760G>A (p.Gly254Arg) c.82G>A (p.Gly28Arg) c.421G>A (p.Gly141Arg) c.*24G>A (n.*24G>A) | |
| 1 | g.146018599A>C | CA342137240 | HJV | c.759T>G (p.Asn253Lys) c.81T>G (p.Asn27Lys) c.420T>G (p.Asn140Lys) c.*23T>G (n.*23T>G) | |
| 1 | g.146018599A>G | CA420603349 | HJV | c.759T>C (p.Asn253=) c.81T>C (p.Asn27=) c.420T>C (p.Asn140=) c.*23T>C (n.*23T>C) | ClinVar |
| 1 | g.146018599A>T | CA342137249 | HJV | c.759T>A (p.Asn253Lys) c.81T>A (p.Asn27Lys) c.420T>A (p.Asn140Lys) c.*23T>A (n.*23T>A) | |
| 1 | g.146018600T>A | CA342137264 | HJV | c.758A>T (p.Asn253Ile) c.80A>T (p.Asn27Ile) c.419A>T (p.Asn140Ile) c.*22A>T (n.*22A>T) | |
| 1 | g.146018600T>C | CA342137260 | HJV | c.758A>G (p.Asn253Ser) c.80A>G (p.Asn27Ser) c.419A>G (p.Asn140Ser) c.*22A>G (n.*22A>G) | dbSNP gnomAD v4 |
| 1 | g.146018600T>G | CA342137255 | HJV | c.758A>C (p.Asn253Thr) c.80A>C (p.Asn27Thr) c.419A>C (p.Asn140Thr) c.*22A>C (n.*22A>C) | |
| 1 | g.146018600T= | CA1198821029 | HJV | c.758A= (p.Asn253=) c.80A= (p.Asn27=) c.419A= (p.Asn140=) c.*22A= (n.*22A=) | |
| 1 | g.146018601T>A | CA342137271 | HJV | c.757A>T (p.Asn253Tyr) c.79A>T (p.Asn27Tyr) c.418A>T (p.Asn140Tyr) c.*21A>T (n.*21A>T) | |
| 1 | g.146018601T>C | CA342137276 | HJV | c.757A>G (p.Asn253Asp) c.79A>G (p.Asn27Asp) c.418A>G (p.Asn140Asp) c.*21A>G (n.*21A>G) | |
| 1 | g.146018601T>G | CA342137274 | HJV | c.757A>C (p.Asn253His) c.79A>C (p.Asn27His) c.418A>C (p.Asn140His) c.*21A>C (n.*21A>C) | |
| 1 | g.146018602G>A | CA1053889 | HJV | c.756C>T (p.Ile252=) c.78C>T (p.Ile26=) c.417C>T (p.Ile139=) c.*20C>T (n.*20C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018602G>C | CA342137295 | HJV | c.756C>G (p.Ile252Met) c.78C>G (p.Ile26Met) c.417C>G (p.Ile139Met) c.*20C>G (n.*20C>G) | |
| 1 | g.146018602G= | CA1142246196 | HJV | c.756C= (p.Ile252=) c.78C= (p.Ile26=) c.417C= (p.Ile139=) c.*20C= (n.*20C=) | |
| 1 | g.146018602G>T | CA342137297 | HJV | c.756C>A (p.Ile252=) c.78C>A (p.Ile26=) c.417C>A (p.Ile139=) c.*20C>A (n.*20C>A) | ClinVar dbSNP |
| 1 | g.146018603A= | CA1198821030 | HJV | c.755T= (p.Ile252=) c.77T= (p.Ile26=) c.416T= (p.Ile139=) c.*19T= (n.*19T=) | |
| 1 | g.146018603A>C | CA342137304 | HJV | c.755T>G (p.Ile252Ser) c.77T>G (p.Ile26Ser) c.416T>G (p.Ile139Ser) c.*19T>G (n.*19T>G) | |
| 1 | g.146018603A>G | CA342137317 | HJV | c.755T>C (p.Ile252Thr) c.77T>C (p.Ile26Thr) c.416T>C (p.Ile139Thr) c.*19T>C (n.*19T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.146018603A>T | CA342137320 | HJV | c.755T>A (p.Ile252Asn) c.77T>A (p.Ile26Asn) c.416T>A (p.Ile139Asn) c.*19T>A (n.*19T>A) | |
| 1 | g.146018604T>A | CA342137327 | HJV | c.754A>T (p.Ile252Phe) c.76A>T (p.Ile26Phe) c.415A>T (p.Ile139Phe) c.*18A>T (n.*18A>T) | |
| 1 | g.146018604T>C | CA342137329 | HJV | c.754A>G (p.Ile252Val) c.76A>G (p.Ile26Val) c.415A>G (p.Ile139Val) c.*18A>G (n.*18A>G) | gnomAD v4 |
| 1 | g.146018604T>G | CA342137330 | HJV | c.754A>C (p.Ile252Leu) c.76A>C (p.Ile26Leu) c.415A>C (p.Ile139Leu) c.*18A>C (n.*18A>C) | |
| 1 | g.146018605A= | CA1198821031 | HJV | c.753T= (p.Ser251=) c.75T= (p.Ser25=) c.414T= (p.Ser138=) c.*17T= (n.*17T=) | |
| 1 | g.146018605A>C | CA420603361 | HJV | c.753T>G (p.Ser251=) c.75T>G (p.Ser25=) c.414T>G (p.Ser138=) c.*17T>G (n.*17T>G) | |
| 1 | g.146018605A>G | CA420603362 | HJV | c.753T>C (p.Ser251=) c.75T>C (p.Ser25=) c.414T>C (p.Ser138=) c.*17T>C (n.*17T>C) | dbSNP |
| 1 | g.146018605A>T | CA420603360 | HJV | c.753T>A (p.Ser251=) c.75T>A (p.Ser25=) c.414T>A (p.Ser138=) c.*17T>A (n.*17T>A) | gnomAD v3 gnomAD v4 |
| 1 | g.146018606G>A | CA342137332 | HJV | c.752C>T (p.Ser251Phe) c.74C>T (p.Ser25Phe) c.413C>T (p.Ser138Phe) c.*16C>T (n.*16C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.146018606G>C | CA342137335 | HJV | c.752C>G (p.Ser251Cys) c.74C>G (p.Ser25Cys) c.413C>G (p.Ser138Cys) c.*16C>G (n.*16C>G) | |
| 1 | g.146018606G= | CA1198821032 | HJV | c.752C= (p.Ser251=) c.74C= (p.Ser25=) c.413C= (p.Ser138=) c.*16C= (n.*16C=) | |
| 1 | g.146018606G>T | CA342137342 | HJV | c.752C>A (p.Ser251Tyr) c.74C>A (p.Ser25Tyr) c.413C>A (p.Ser138Tyr) c.*16C>A (n.*16C>A) |