UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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) | |
| 1 | g.146018607A>C | CA342137348 | HJV | c.751T>G (p.Ser251Ala) c.73T>G (p.Ser25Ala) c.412T>G (p.Ser138Ala) c.*15T>G (n.*15T>G) | |
| 1 | g.146018607A>G | CA342137344 | HJV | c.751T>C (p.Ser251Pro) c.73T>C (p.Ser25Pro) c.412T>C (p.Ser138Pro) c.*15T>C (n.*15T>C) | |
| 1 | g.146018607A>T | CA342137346 | HJV | c.751T>A (p.Ser251Thr) c.73T>A (p.Ser25Thr) c.412T>A (p.Ser138Thr) c.*15T>A (n.*15T>A) | dbSNP |
| 1 | g.146018608A>C | CA420603370 | HJV | c.750T>G (p.Gly250=) c.72T>G (p.Gly24=) c.411T>G (p.Gly137=) c.*14T>G (n.*14T>G) | |
| 1 | g.146018608A>G | CA420603366 | HJV | c.750T>C (p.Gly250=) c.72T>C (p.Gly24=) c.411T>C (p.Gly137=) c.*14T>C (n.*14T>C) | |
| 1 | g.146018608A>T | CA420603371 | HJV | c.750T>A (p.Gly250=) c.72T>A (p.Gly24=) c.411T>A (p.Gly137=) c.*14T>A (n.*14T>A) | |
| 1 | g.146018609C>A | CA336923 | HJV | c.749G>T (p.Gly250Val) c.71G>T (p.Gly24Val) c.410G>T (p.Gly137Val) c.*13G>T (n.*13G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018609C= | CA1198821033 | HJV | c.749G= (p.Gly250=) c.71G= (p.Gly24=) c.410G= (p.Gly137=) c.*13G= (n.*13G=) | |
| 1 | g.146018609C>G | CA342137352 | HJV | c.749G>C (p.Gly250Ala) c.71G>C (p.Gly24Ala) c.410G>C (p.Gly137Ala) c.*13G>C (n.*13G>C) | gnomAD v4 |
| 1 | g.146018609C>T | CA342137356 | HJV | c.749G>A (p.Gly250Asp) c.71G>A (p.Gly24Asp) c.410G>A (p.Gly137Asp) c.*13G>A (n.*13G>A) | |
| 1 | g.146018610C>A | CA342137359 | HJV | c.748G>T (p.Gly250Cys) c.70G>T (p.Gly24Cys) c.409G>T (p.Gly137Cys) c.*12G>T (n.*12G>T) | |
| 1 | g.146018610C>G | CA342137361 | HJV | c.748G>C (p.Gly250Arg) c.70G>C (p.Gly24Arg) c.409G>C (p.Gly137Arg) c.*12G>C (n.*12G>C) | |
| 1 | g.146018610C>T | CA342137368 | HJV | c.748G>A (p.Gly250Ser) c.70G>A (p.Gly24Ser) c.409G>A (p.Gly137Ser) c.*12G>A (n.*12G>A) | |
| 1 | g.146018611A= | CA1198821034 | HJV | c.747T= (p.Asp249=) c.69T= (p.Asp23=) c.408T= (p.Asp136=) c.*11T= (n.*11T=) | |
| 1 | g.146018611A>C | CA29823951 | HJV | c.747T>G (p.Asp249Glu) c.69T>G (p.Asp23Glu) c.408T>G (p.Asp136Glu) c.*11T>G (n.*11T>G) | dbSNP |
| 1 | g.146018611A>G | CA420603376 | HJV | c.747T>C (p.Asp249=) c.69T>C (p.Asp23=) c.408T>C (p.Asp136=) c.*11T>C (n.*11T>C) | dbSNP gnomAD v4 |
| 1 | g.146018611A>T | CA342137371 | HJV | c.747T>A (p.Asp249Glu) c.69T>A (p.Asp23Glu) c.408T>A (p.Asp136Glu) c.*11T>A (n.*11T>A) | |
| 1 | g.146018612T>A | CA342137373 | HJV | c.746A>T (p.Asp249Val) c.68A>T (p.Asp23Val) c.407A>T (p.Asp136Val) c.*10A>T (n.*10A>T) | gnomAD v4 |
| 1 | g.146018612T>C | CA342137375 | HJV | c.746A>G (p.Asp249Gly) c.68A>G (p.Asp23Gly) c.407A>G (p.Asp136Gly) c.*10A>G (n.*10A>G) | COSMIC |
| 1 | g.146018612T>G | CA342137377 | HJV | c.746A>C (p.Asp249Ala) c.68A>C (p.Asp23Ala) c.407A>C (p.Asp136Ala) c.*10A>C (n.*10A>C) | |
| 1 | g.146018613C>A | CA342137384 | HJV | c.745G>T (p.Asp249Tyr) c.67G>T (p.Asp23Tyr) c.406G>T (p.Asp136Tyr) c.*9G>T (n.*9G>T) | |
| 1 | g.146018613C= | CA1198821035 | HJV | c.745G= (p.Asp249=) c.67G= (p.Asp23=) c.406G= (p.Asp136=) c.*9G= (n.*9G=) | |
| 1 | g.146018613C>G | CA342137388 | HJV | c.745G>C (p.Asp249His) c.67G>C (p.Asp23His) c.406G>C (p.Asp136His) c.*9G>C (n.*9G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.146018613C>T | CA342137382 | HJV | c.745G>A (p.Asp249Asn) c.67G>A (p.Asp23Asn) c.406G>A (p.Asp136Asn) c.*9G>A (n.*9G>A) | gnomAD v4 |
| 1 | g.146018614T>A | CA342137390 | HJV | c.744A>T (p.Glu248Asp) c.66A>T (p.Glu22Asp) c.405A>T (p.Glu135Asp) c.*8A>T (n.*8A>T) | |
| 1 | g.146018614T>C | CA420603381 | HJV | c.744A>G (p.Glu248=) c.66A>G (p.Glu22=) c.405A>G (p.Glu135=) c.*8A>G (n.*8A>G) | |
| 1 | g.146018614T>G | CA342137392 | HJV | c.744A>C (p.Glu248Asp) c.66A>C (p.Glu22Asp) c.405A>C (p.Glu135Asp) c.*8A>C (n.*8A>C) | |
| 1 | g.146018615T>A | CA342137393 | HJV | c.743A>T (p.Glu248Val) c.65A>T (p.Glu22Val) c.404A>T (p.Glu135Val) c.*7A>T (n.*7A>T) | |
| 1 | g.146018615T>C | CA342137394 | HJV | c.743A>G (p.Glu248Gly) c.65A>G (p.Glu22Gly) c.404A>G (p.Glu135Gly) c.*7A>G (n.*7A>G) | |
| 1 | g.146018615T>G | CA342137395 | HJV | c.743A>C (p.Glu248Ala) c.65A>C (p.Glu22Ala) c.404A>C (p.Glu135Ala) c.*7A>C (n.*7A>C) | |
| 1 | g.146018616C>A | CA342137396 | HJV | c.742G>T (p.Glu248Ter) c.64G>T (p.Glu22Ter) c.403G>T (p.Glu135Ter) c.*6G>T (n.*6G>T) | |
| 1 | g.146018616C>G | CA342137397 | HJV | c.742G>C (p.Glu248Gln) c.64G>C (p.Glu22Gln) c.403G>C (p.Glu135Gln) c.*6G>C (n.*6G>C) | |
| 1 | g.146018616C>T | CA342137398 | HJV | c.742G>A (p.Glu248Lys) c.64G>A (p.Glu22Lys) c.403G>A (p.Glu135Lys) c.*6G>A (n.*6G>A) | |
| 1 | g.146018617A>C | CA342137401 | HJV | c.741T>G (p.Phe247Leu) c.63T>G (p.Phe21Leu) c.402T>G (p.Phe134Leu) c.*5T>G (n.*5T>G) | |
| 1 | g.146018617A>G | CA420603391 | HJV | c.741T>C (p.Phe247=) c.63T>C (p.Phe21=) c.402T>C (p.Phe134=) c.*5T>C (n.*5T>C) | |
| 1 | g.146018617A>T | CA342137407 | HJV | c.741T>A (p.Phe247Leu) c.63T>A (p.Phe21Leu) c.402T>A (p.Phe134Leu) c.*5T>A (n.*5T>A) | |
| 1 | g.146018618A>C | CA342137409 | HJV | c.740T>G (p.Phe247Cys) c.62T>G (p.Phe21Cys) c.401T>G (p.Phe134Cys) c.*4T>G (n.*4T>G) | |
| 1 | g.146018618A>G | CA342137411 | HJV | c.740T>C (p.Phe247Ser) c.62T>C (p.Phe21Ser) c.401T>C (p.Phe134Ser) c.*4T>C (n.*4T>C) | |
| 1 | g.146018618A>T | CA342137413 | HJV | c.740T>A (p.Phe247Tyr) c.62T>A (p.Phe21Tyr) c.401T>A (p.Phe134Tyr) c.*4T>A (n.*4T>A) | |
| 1 | g.146018619A= | CA1198821036 | HJV | c.739T= (p.Phe247=) c.61T= (p.Phe21=) c.400T= (p.Phe134=) c.*3T= (n.*3T=) | |
| 1 | g.146018619A>C | CA342137424 | HJV | c.739T>G (p.Phe247Val) c.61T>G (p.Phe21Val) c.400T>G (p.Phe134Val) c.*3T>G (n.*3T>G) | |
| 1 | g.146018619A>G | CA342137423 | HJV | c.739T>C (p.Phe247Leu) c.61T>C (p.Phe21Leu) c.400T>C (p.Phe134Leu) c.*3T>C (n.*3T>C) | dbSNP |
| 1 | g.146018619A>T | CA342137419 | HJV | c.739T>A (p.Phe247Ile) c.61T>A (p.Phe21Ile) c.400T>A (p.Phe134Ile) c.*3T>A (n.*3T>A) | dbSNP |
| 1 | g.146018620G>A | CA420603398 | HJV | c.738C>T (p.Ala246=) c.60C>T (p.Ala20=) c.399C>T (p.Ala133=) c.*2C>T (n.*2C>T) | COSMIC |
| 1 | g.146018620G>C | CA420603397 | HJV | c.738C>G (p.Ala246=) c.60C>G (p.Ala20=) c.399C>G (p.Ala133=) c.*2C>G (n.*2C>G) | |
| 1 | g.146018620G>T | CA420603396 | HJV | c.738C>A (p.Ala246=) c.60C>A (p.Ala20=) c.399C>A (p.Ala133=) c.*2C>A (n.*2C>A) | |
| 1 | g.146018621G>A | CA342137425 | HJV | c.737C>T (p.Ala246Val) c.59C>T (p.Ala20Val) c.398C>T (p.Ala133Val) c.*1C>T (n.*1C>T) | gnomAD v4 |
| 1 | g.146018621G>C | CA342137426 | HJV | c.737C>G (p.Ala246Gly) c.59C>G (p.Ala20Gly) c.398C>G (p.Ala133Gly) c.*1C>G (n.*1C>G) | |
| 1 | g.146018621G= | CA1198821037 | HJV | c.737C= (p.Ala246=) c.59C= (p.Ala20=) c.398C= (p.Ala133=) c.*1C= (n.*1C=) | |
| 1 | g.146018621G>T | CA342137427 | HJV | c.737C>A (p.Ala246Asp) c.59C>A (p.Ala20Asp) c.398C>A (p.Ala133Asp) c.*1C>A (n.*1C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018622C>A | CA29823952 | HJV | c.736G>T (p.Ala246Ser) c.58G>T (p.Ala20Ser) c.397G>T (p.Ala133Ser) c.213G>T (p.Ter71Tyr) | |
| 1 | g.146018622C= | CA1142669839 | HJV | c.736G= (p.Ala246=) c.58G= (p.Ala20=) c.397G= (p.Ala133=) c.213G= (p.Ter71=) | |
| 1 | g.146018622C>G | CA29823953 | HJV | c.736G>C (p.Ala246Pro) c.58G>C (p.Ala20Pro) c.397G>C (p.Ala133Pro) c.213G>C (p.Ter71Tyr) | |
| 1 | g.146018622C>T | CA342137438 | HJV | c.736G>A (p.Ala246Thr) c.58G>A (p.Ala20Thr) c.397G>A (p.Ala133Thr) c.213G>A (p.Ter71=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.146018623T>A | CA420603406 | HJV | c.735A>T (p.Val245=) c.57A>T (p.Val19=) c.396A>T (p.Val132=) c.212A>T (p.Ter71Leu) | |
| 1 | g.146018623T>C | CA420603405 | HJV | c.735A>G (p.Val245=) c.57A>G (p.Val19=) c.396A>G (p.Val132=) c.212A>G (p.Ter71Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018623T>G | CA420603403 | HJV | c.735A>C (p.Val245=) c.57A>C (p.Val19=) c.396A>C (p.Val132=) c.212A>C (p.Ter71Ser) | |
| 1 | g.146018623T= | CA1198821038 | HJV | c.735A= (p.Val245=) c.57A= (p.Val19=) c.396A= (p.Val132=) c.212A= (p.Ter71=) | |
| 1 | g.146018624A= | CA1198821039 | HJV | c.734T= (p.Val245=) c.56T= (p.Val19=) c.395T= (p.Val132=) c.211T= (p.Ter71=) | |
| 1 | g.146018624A>C | CA342137446 | HJV | c.734T>G (p.Val245Gly) c.56T>G (p.Val19Gly) c.395T>G (p.Val132Gly) c.211T>G (p.Ter71Glu) | |
| 1 | g.146018624A>G | CA342137449 | HJV | c.734T>C (p.Val245Ala) c.56T>C (p.Val19Ala) c.395T>C (p.Val132Ala) c.211T>C (p.Ter71Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.146018624A>T | CA342137452 | HJV | c.734T>A (p.Val245Glu) c.56T>A (p.Val19Glu) c.395T>A (p.Val132Glu) c.211T>A (p.Ter71Lys) | |
| 1 | g.146018625C>A | CA342137456 | HJV | c.733G>T (p.Val245Leu) c.55G>T (p.Val19Leu) c.394G>T (p.Val132Leu) c.210G>T (p.Leu70=) | |
| 1 | g.146018625C>G | CA342137467 | HJV | c.733G>C (p.Val245Leu) c.55G>C (p.Val19Leu) c.394G>C (p.Val132Leu) c.210G>C (p.Leu70=) | |
| 1 | g.146018625C>T | CA342137469 | HJV | c.733G>A (p.Val245Ile) c.55G>A (p.Val19Ile) c.394G>A (p.Val132Ile) c.210G>A (p.Leu70=) | |
| 1 | g.146018626A>C | CA420603418 | HJV | c.732T>G (p.Pro244=) c.54T>G (p.Pro18=) c.393T>G (p.Pro131=) c.209T>G (p.Leu70Arg) | |
| 1 | g.146018626A>G | CA420603417 | HJV | c.732T>C (p.Pro244=) c.54T>C (p.Pro18=) c.393T>C (p.Pro131=) c.209T>C (p.Leu70Pro) | ClinVar dbSNP |
| 1 | g.146018626A>T | CA420603419 | HJV | c.732T>A (p.Pro244=) c.54T>A (p.Pro18=) c.393T>A (p.Pro131=) c.209T>A (p.Leu70Gln) | |
| 1 | g.146018627G>A | CA342137473 | HJV | c.731C>T (p.Pro244Leu) c.53C>T (p.Pro18Leu) c.392C>T (p.Pro131Leu) c.208C>T (p.Leu70=) | |
| 1 | g.146018627G>C | CA342137472 | HJV | c.731C>G (p.Pro244Arg) c.53C>G (p.Pro18Arg) c.392C>G (p.Pro131Arg) c.208C>G (p.Leu70Val) | |
| 1 | g.146018627G>T | CA342137471 | HJV | c.731C>A (p.Pro244His) c.53C>A (p.Pro18His) c.392C>A (p.Pro131His) c.208C>A (p.Leu70Met) | |
| 1 | g.146018628G>A | CA342137478 | HJV | c.730C>T (p.Pro244Ser) c.52C>T (p.Pro18Ser) c.391C>T (p.Pro131Ser) c.207C>T (p.Phe69=) | |
| 1 | g.146018628G>C | CA342137487 | HJV | c.730C>G (p.Pro244Ala) c.52C>G (p.Pro18Ala) c.391C>G (p.Pro131Ala) c.207C>G (p.Phe69Leu) | |
| 1 | g.146018628G>T | CA342137485 | HJV | c.730C>A (p.Pro244Thr) c.52C>A (p.Pro18Thr) c.391C>A (p.Pro131Thr) c.207C>A (p.Phe69Leu) | |
| 1 | g.146018629A>C | CA420603423 | HJV | c.729T>G (p.Leu243=) c.51T>G (p.Leu17=) c.390T>G (p.Leu130=) c.206T>G (p.Phe69Cys) | |
| 1 | g.146018629A>G | CA420603425 | HJV | c.729T>C (p.Leu243=) c.51T>C (p.Leu17=) c.390T>C (p.Leu130=) c.206T>C (p.Phe69Ser) | |
| 1 | g.146018629A>T | CA420603422 | HJV | c.729T>A (p.Leu243=) c.51T>A (p.Leu17=) c.390T>A (p.Leu130=) c.206T>A (p.Phe69Tyr) | gnomAD v4 |
| 1 | g.146018630A= | CA1198821040 | HJV | c.728T= (p.Leu243=) c.50T= (p.Leu17=) c.389T= (p.Leu130=) c.205T= (p.Phe69=) | |
| 1 | g.146018630A>C | CA342137491 | HJV | c.728T>G (p.Leu243Arg) c.50T>G (p.Leu17Arg) c.389T>G (p.Leu130Arg) c.205T>G (p.Phe69Val) | |
| 1 | g.146018630A>G | CA342137502 | HJV | c.728T>C (p.Leu243Pro) c.50T>C (p.Leu17Pro) c.389T>C (p.Leu130Pro) c.205T>C (p.Phe69Leu) | ClinVar dbSNP |
| 1 | g.146018630A>T | CA342137495 | HJV | c.728T>A (p.Leu243His) c.50T>A (p.Leu17His) c.389T>A (p.Leu130His) c.205T>A (p.Phe69Ile) | |
| 1 | g.146018631G>A | CA342137505 | HJV | c.727C>T (p.Leu243Phe) c.49C>T (p.Leu17Phe) c.388C>T (p.Leu130Phe) c.204C>T (p.Ile68=) | COSMIC |
| 1 | g.146018631G>C | CA342137507 | HJV | c.727C>G (p.Leu243Val) c.49C>G (p.Leu17Val) c.388C>G (p.Leu130Val) c.204C>G (p.Ile68Met) | |
| 1 | g.146018631G>T | CA342137519 | HJV | c.727C>A (p.Leu243Ile) c.49C>A (p.Leu17Ile) c.388C>A (p.Leu130Ile) c.204C>A (p.Ile68=) | |
| 1 | g.146018632A>C | CA342137527 | HJV | c.726T>G (p.Asn242Lys) c.48T>G (p.Asn16Lys) c.387T>G (p.Asn129Lys) c.203T>G (p.Ile68Ser) | |
| 1 | g.146018632A>G | CA420603431 | HJV | c.726T>C (p.Asn242=) c.48T>C (p.Asn16=) c.387T>C (p.Asn129=) c.203T>C (p.Ile68Thr) | |
| 1 | g.146018632A>T | CA342137532 | HJV | c.726T>A (p.Asn242Lys) c.48T>A (p.Asn16Lys) c.387T>A (p.Asn129Lys) c.203T>A (p.Ile68Asn) | |
| 1 | g.146018633T>A | CA342137535 | HJV | c.725A>T (p.Asn242Ile) c.47A>T (p.Asn16Ile) c.386A>T (p.Asn129Ile) c.202A>T (p.Ile68Phe) | |
| 1 | g.146018633T>C | CA342137536 | HJV | c.725A>G (p.Asn242Ser) c.47A>G (p.Asn16Ser) c.386A>G (p.Asn129Ser) c.202A>G (p.Ile68Val) | |
| 1 | g.146018633T>G | CA342137537 | HJV | c.725A>C (p.Asn242Thr) c.47A>C (p.Asn16Thr) c.386A>C (p.Asn129Thr) c.202A>C (p.Ile68Leu) | |
| 1 | g.146018634T>A | CA342137539 | HJV | c.724A>T (p.Asn242Tyr) c.46A>T (p.Asn16Tyr) c.385A>T (p.Asn129Tyr) c.201A>T (p.Ile67=) | |
| 1 | g.146018634T>C | CA342137541 | HJV | c.724A>G (p.Asn242Asp) c.46A>G (p.Asn16Asp) c.385A>G (p.Asn129Asp) c.201A>G (p.Ile67Met) | dbSNP |
| 1 | g.146018634T>G | CA342137546 | HJV | c.724A>C (p.Asn242His) c.46A>C (p.Asn16His) c.385A>C (p.Asn129His) c.201A>C (p.Ile67=) | |
| 1 | g.146018634T= | CA1198821041 | HJV | c.724A= (p.Asn242=) c.46A= (p.Asn16=) c.385A= (p.Asn129=) c.201A= (p.Ile67=) | |
| 1 | g.146018635A>C | CA342137567 | HJV | c.723T>G (p.Asp241Glu) c.45T>G (p.Asp15Glu) c.384T>G (p.Asp128Glu) c.200T>G (p.Ile67Arg) | |
| 1 | g.146018635A>G | CA420603443 | HJV | c.723T>C (p.Asp241=) c.45T>C (p.Asp15=) c.384T>C (p.Asp128=) c.200T>C (p.Ile67Thr) | gnomAD v3 gnomAD v4 |
| 1 | g.146018635A>T | CA342137554 | HJV | c.723T>A (p.Asp241Glu) c.45T>A (p.Asp15Glu) c.384T>A (p.Asp128Glu) c.200T>A (p.Ile67Lys) | |
| 1 | g.146018636T>A | CA342137576 | HJV | c.722A>T (p.Asp241Val) c.44A>T (p.Asp15Val) c.383A>T (p.Asp128Val) c.199A>T (p.Ile67Leu) | |
| 1 | g.146018636T>C | CA342137584 | HJV | c.722A>G (p.Asp241Gly) c.44A>G (p.Asp15Gly) c.383A>G (p.Asp128Gly) c.199A>G (p.Ile67Val) | gnomAD v4 |
| 1 | g.146018636T>G | CA342137586 | HJV | c.722A>C (p.Asp241Ala) c.44A>C (p.Asp15Ala) c.383A>C (p.Asp128Ala) c.199A>C (p.Ile67Leu) | |
| 1 | g.146018637C>A | CA342137588 | HJV | c.721G>T (p.Asp241Tyr) c.43G>T (p.Asp15Tyr) c.382G>T (p.Asp128Tyr) c.198G>T (p.Trp66Cys) | |
| 1 | g.146018637C= | CA1198821042 | HJV | c.721G= (p.Asp241=) c.43G= (p.Asp15=) c.382G= (p.Asp128=) c.198G= (p.Trp66=) | |
| 1 | g.146018637C>G | CA342137589 | HJV | c.721G>C (p.Asp241His) c.43G>C (p.Asp15His) c.382G>C (p.Asp128His) c.198G>C (p.Trp66Cys) | |
| 1 | g.146018637C>T | CA342137590 | HJV | c.721G>A (p.Asp241Asn) c.43G>A (p.Asp15Asn) c.382G>A (p.Asp128Asn) c.198G>A (p.Trp66Ter) | dbSNP gnomAD v4 |
| 1 | g.146018638C>A | CA420603449 | HJV | c.720G>T (p.Val240=) c.42G>T (p.Val14=) c.381G>T (p.Val127=) c.197G>T (p.Trp66Leu) | |
| 1 | g.146018638C>G | CA420603448 | HJV | c.720G>C (p.Val240=) c.42G>C (p.Val14=) c.381G>C (p.Val127=) c.197G>C (p.Trp66Ser) | |
| 1 | g.146018638C>T | CA420603451 | HJV | c.720G>A (p.Val240=) c.42G>A (p.Val14=) c.381G>A (p.Val127=) c.197G>A (p.Trp66Ter) | ClinVar dbSNP |
| 1 | g.146018639A>C | CA342137592 | HJV | c.719T>G (p.Val240Gly) c.41T>G (p.Val14Gly) c.380T>G (p.Val127Gly) c.196T>G (p.Trp66Gly) | |
| 1 | g.146018639A>G | CA342137594 | HJV | c.719T>C (p.Val240Ala) c.41T>C (p.Val14Ala) c.380T>C (p.Val127Ala) c.196T>C (p.Trp66Arg) | |
| 1 | g.146018639A>T | CA342137597 | HJV | c.719T>A (p.Val240Glu) c.41T>A (p.Val14Glu) c.380T>A (p.Val127Glu) c.196T>A (p.Trp66Arg) | |
| 1 | g.146018640C>A | CA29823954 | HJV | c.718G>T (p.Val240Leu) c.40G>T (p.Val14Leu) c.379G>T (p.Val127Leu) c.195G>T (p.Arg65Ser) | |
| 1 | g.146018640C= | CA1198821043 | HJV | c.718G= (p.Val240=) c.40G= (p.Val14=) c.379G= (p.Val127=) c.195G= (p.Arg65=) | |
| 1 | g.146018640C>G | CA29823955 | HJV | c.718G>C (p.Val240Leu) c.40G>C (p.Val14Leu) c.379G>C (p.Val127Leu) c.195G>C (p.Arg65Ser) | |
| 1 | g.146018640C>T | CA1053888 | HJV | c.718G>A (p.Val240Met) c.40G>A (p.Val14Met) c.379G>A (p.Val127Met) c.195G>A (p.Arg65=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.146018641C>A | CA342137604 | HJV | c.717G>T (p.Glu239Asp) c.39G>T (p.Glu13Asp) c.378G>T (p.Glu126Asp) c.194G>T (p.Arg65Met) | |
| 1 | g.146018641C>G | CA342137603 | HJV | c.717G>C (p.Glu239Asp) c.39G>C (p.Glu13Asp) c.378G>C (p.Glu126Asp) c.194G>C (p.Arg65Thr) | |
| 1 | g.146018641C>T | CA420603456 | HJV | c.717G>A (p.Glu239=) c.39G>A (p.Glu13=) c.378G>A (p.Glu126=) c.194G>A (p.Arg65Lys) | ClinVar dbSNP |
| 1 | g.146018642T>A | CA29823957 | HJV | c.716A>T (p.Glu239Val) c.38A>T (p.Glu13Val) c.377A>T (p.Glu126Val) c.193A>T (p.Arg65Trp) | |
| 1 | g.146018642T>C | CA1053887 | HJV | c.716A>G (p.Glu239Gly) c.38A>G (p.Glu13Gly) c.377A>G (p.Glu126Gly) c.193A>G (p.Arg65Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018642T>G | CA29823963 | HJV | c.716A>C (p.Glu239Ala) c.38A>C (p.Glu13Ala) c.377A>C (p.Glu126Ala) c.193A>C (p.Arg65=) | |
| 1 | g.146018642T= | CA1198821044 | HJV | c.716A= (p.Glu239=) c.38A= (p.Glu13=) c.377A= (p.Glu126=) c.193A= (p.Arg65=) | |
| 1 | g.146018643C>A | CA342137610 | HJV | c.715G>T (p.Glu239Ter) c.37G>T (p.Glu13Ter) c.376G>T (p.Glu126Ter) c.192G>T (p.Leu64=) | |
| 1 | g.146018643C>G | CA342137614 | HJV | c.715G>C (p.Glu239Gln) c.37G>C (p.Glu13Gln) c.376G>C (p.Glu126Gln) c.192G>C (p.Leu64=) | COSMIC |
| 1 | g.146018643C>T | CA342137616 | HJV | c.715G>A (p.Glu239Lys) c.37G>A (p.Glu13Lys) c.376G>A (p.Glu126Lys) c.192G>A (p.Leu64=) | gnomAD v4 COSMIC |
| 1 | g.146018644A>C | CA420603468 | HJV | c.714T>G (p.Ala238=) c.36T>G (p.Ala12=) c.375T>G (p.Ala125=) c.191T>G (p.Leu64Arg) | |
| 1 | g.146018644A>G | CA420603466 | HJV | c.714T>C (p.Ala238=) c.36T>C (p.Ala12=) c.375T>C (p.Ala125=) c.191T>C (p.Leu64Pro) | |
| 1 | g.146018644A>T | CA420603463 | HJV | c.714T>A (p.Ala238=) c.36T>A (p.Ala12=) c.375T>A (p.Ala125=) c.191T>A (p.Leu64Gln) | |
| 1 | g.146018645G>A | CA342137626 | HJV | c.713C>T (p.Ala238Val) c.35C>T (p.Ala12Val) c.374C>T (p.Ala125Val) c.190C>T (p.Leu64=) | |
| 1 | g.146018645G>C | CA342137619 | HJV | c.713C>G (p.Ala238Gly) c.35C>G (p.Ala12Gly) c.374C>G (p.Ala125Gly) c.190C>G (p.Leu64Val) | dbSNP gnomAD v4 |
| 1 | g.146018645G= | CA1198821045 | HJV | c.713C= (p.Ala238=) c.35C= (p.Ala12=) c.374C= (p.Ala125=) c.190C= (p.Leu64=) | |
| 1 | g.146018645G>T | CA342137625 | HJV | c.713C>A (p.Ala238Asp) c.35C>A (p.Ala12Asp) c.374C>A (p.Ala125Asp) c.190C>A (p.Leu64Met) | |
| 1 | g.146018646C>A | CA342137627 | HJV | c.712G>T (p.Ala238Ser) c.34G>T (p.Ala12Ser) c.373G>T (p.Ala125Ser) c.189G>T (p.Arg63Ser) | |
| 1 | g.146018646C>G | CA342137628 | HJV | c.712G>C (p.Ala238Pro) c.34G>C (p.Ala12Pro) c.373G>C (p.Ala125Pro) c.189G>C (p.Arg63Ser) | |
| 1 | g.146018646C>T | CA342137629 | HJV | c.712G>A (p.Ala238Thr) c.34G>A (p.Ala12Thr) c.373G>A (p.Ala125Thr) c.189G>A (p.Arg63=) | |
| 1 | g.146018647C>A | CA342137632 | HJV | c.711G>T (p.Gln237His) c.33G>T (p.Gln11His) c.372G>T (p.Gln124His) c.188G>T (p.Arg63Met) | gnomAD v4 |
| 1 | g.146018647C>G | CA342137640 | HJV | c.711G>C (p.Gln237His) c.33G>C (p.Gln11His) c.372G>C (p.Gln124His) c.188G>C (p.Arg63Thr) | |
| 1 | g.146018647C>T | CA420603471 | HJV | c.711G>A (p.Gln237=) c.33G>A (p.Gln11=) c.372G>A (p.Gln124=) c.188G>A (p.Arg63Lys) | |
| 1 | g.146018648T>A | CA342137648 | HJV | c.710A>T (p.Gln237Leu) c.32A>T (p.Gln11Leu) c.371A>T (p.Gln124Leu) c.187A>T (p.Arg63Trp) | |
| 1 | g.146018648T>C | CA342137655 | HJV | c.710A>G (p.Gln237Arg) c.32A>G (p.Gln11Arg) c.371A>G (p.Gln124Arg) c.187A>G (p.Arg63Gly) | |
| 1 | g.146018648T>G | CA342137652 | HJV | c.710A>C (p.Gln237Pro) c.32A>C (p.Gln11Pro) c.371A>C (p.Gln124Pro) c.187A>C (p.Arg63=) | |
| 1 | g.146018649G>A | CA342137659 | HJV | c.709C>T (p.Gln237Ter) c.31C>T (p.Gln11Ter) c.370C>T (p.Gln124Ter) c.186C>T (p.Ile62=) | |
| 1 | g.146018649G>C | CA342137661 | HJV | c.709C>G (p.Gln237Glu) c.31C>G (p.Gln11Glu) c.370C>G (p.Gln124Glu) c.186C>G (p.Ile62Met) | dbSNP |
| 1 | g.146018649G>T | CA342137663 | HJV | c.709C>A (p.Gln237Lys) c.31C>A (p.Gln11Lys) c.370C>A (p.Gln124Lys) c.186C>A (p.Ile62=) | |
| 1 | g.146018650A>C | CA342137665 | HJV | c.708T>G (p.Tyr236Ter) c.30T>G (p.Tyr10Ter) c.369T>G (p.Tyr123Ter) c.185T>G (p.Ile62Ser) | |
| 1 | g.146018650A>G | CA420603476 | HJV | c.708T>C (p.Tyr236=) c.30T>C (p.Tyr10=) c.369T>C (p.Tyr123=) c.185T>C (p.Ile62Thr) | |
| 1 | g.146018650A>T | CA342137670 | HJV | c.708T>A (p.Tyr236Ter) c.30T>A (p.Tyr10Ter) c.369T>A (p.Tyr123Ter) c.185T>A (p.Ile62Asn) | |
| 1 | g.146018651T>A | CA342137672 | HJV | c.707A>T (p.Tyr236Phe) c.29A>T (p.Tyr10Phe) c.368A>T (p.Tyr123Phe) c.184A>T (p.Ile62Phe) | |
| 1 | g.146018651T>C | CA342137678 | HJV | c.707A>G (p.Tyr236Cys) c.29A>G (p.Tyr10Cys) c.368A>G (p.Tyr123Cys) c.184A>G (p.Ile62Val) | ClinVar dbSNP |
| 1 | g.146018651T>G | CA342137693 | HJV | c.707A>C (p.Tyr236Ser) c.29A>C (p.Tyr10Ser) c.368A>C (p.Tyr123Ser) c.184A>C (p.Ile62Leu) | |
| 1 | g.146018651T= | CA1198821046 | HJV | c.707A= (p.Tyr236=) c.29A= (p.Tyr10=) c.368A= (p.Tyr123=) c.184A= (p.Ile62=) | |
| 1 | g.146018652A>C | CA342137694 | HJV | c.706T>G (p.Tyr236Asp) c.28T>G (p.Tyr10Asp) c.367T>G (p.Tyr123Asp) c.183T>G (p.Cys61Trp) | |
| 1 | g.146018652A>G | CA342137707 | HJV | c.706T>C (p.Tyr236His) c.28T>C (p.Tyr10His) c.367T>C (p.Tyr123His) c.183T>C (p.Cys61=) | |
| 1 | g.146018652A>T | CA342137710 | HJV | c.706T>A (p.Tyr236Asn) c.28T>A (p.Tyr10Asn) c.367T>A (p.Tyr123Asn) c.183T>A (p.Cys61Ter) | |
| 1 | g.146018653C>A | CA29823970 | HJV | c.705G>T (p.Val235=) c.27G>T (p.Val9=) c.366G>T (p.Val122=) c.182G>T (p.Cys61Phe) | ClinVar |
| 1 | g.146018653C= | CA1198821047 | HJV | c.705G= (p.Val235=) c.27G= (p.Val9=) c.366G= (p.Val122=) c.182G= (p.Cys61=) | |
| 1 | g.146018653C>G | CA29823978 | HJV | c.705G>C (p.Val235=) c.27G>C (p.Val9=) c.366G>C (p.Val122=) c.182G>C (p.Cys61Ser) | dbSNP |
| 1 | g.146018653C>T | CA1053886 | HJV | c.705G>A (p.Val235=) c.27G>A (p.Val9=) c.366G>A (p.Val122=) c.182G>A (p.Cys61Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.146018654A>C | CA342137717 | HJV | c.704T>G (p.Val235Gly) c.26T>G (p.Val9Gly) c.365T>G (p.Val122Gly) c.181T>G (p.Cys61Gly) | |
| 1 | g.146018654A>G | CA342137718 | HJV | c.704T>C (p.Val235Ala) c.26T>C (p.Val9Ala) c.365T>C (p.Val122Ala) c.181T>C (p.Cys61Arg) | |
| 1 | g.146018654A>T | CA342137719 | HJV | c.704T>A (p.Val235Glu) c.26T>A (p.Val9Glu) c.365T>A (p.Val122Glu) c.181T>A (p.Cys61Ser) | |
| 1 | g.146018654_146018655delinsAC | CA1198821048 | HJV | c.703_704delinsGT (p.Val235=) c.25_26delinsGT (p.Val9=) c.364_365delinsGT (p.Val122=) c.180_181delinsGT (p.Arg60=) | |
| 1 | g.146018655C>A | CA342137722 | HJV | c.703G>T (p.Val235Leu) c.25G>T (p.Val9Leu) c.364G>T (p.Val122Leu) c.180G>T (p.Arg60Ser) | |
| 1 | g.146018655C>G | CA342137731 | HJV | c.703G>C (p.Val235Leu) c.25G>C (p.Val9Leu) c.364G>C (p.Val122Leu) c.180G>C (p.Arg60Ser) | |
| 1 | g.146018655C>T | CA342137732 | HJV | c.703G>A (p.Val235Met) c.25G>A (p.Val9Met) c.364G>A (p.Val122Met) c.180G>A (p.Arg60=) | |
| 1 | g.146018656del | CA916295408 | HJV | c.703del (p.Val235CysfsTer11) c.25del (p.Val9CysfsTer11) c.364del (p.Val122CysfsTer11) c.180del (p.Arg60SerfsTer5) | ClinVar dbSNP |
| 1 | g.146018655_146018658delinsCCTT | CA1198821049 | HJV | c.700_703delinsAAGG (p.Lys234=) c.22_25delinsAAGG (p.Lys8=) c.361_364delinsAAGG (p.Lys121=) c.177_180delinsAAGG (p.Arg59=) | |
| 1 | g.146018656C>A | CA342137736 | HJV | c.702G>T (p.Lys234Asn) c.24G>T (p.Lys8Asn) c.363G>T (p.Lys121Asn) c.179G>T (p.Arg60Met) | |
| 1 | g.146018656C>G | CA342137741 | HJV | c.702G>C (p.Lys234Asn) c.24G>C (p.Lys8Asn) c.363G>C (p.Lys121Asn) c.179G>C (p.Arg60Thr) | |
| 1 | g.146018656C>T | CA420603484 | HJV | c.702G>A (p.Lys234=) c.24G>A (p.Lys8=) c.363G>A (p.Lys121=) c.179G>A (p.Arg60Lys) | |
| 1 | g.146018658_146018660del | CA526253971 | HJV | c.700_702del (p.Lys234del) c.22_24del (p.Lys8del) c.361_363del (p.Lys121del) c.177_179del (p.Arg60del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018657T>A | CA342137745 | HJV | c.701A>T (p.Lys234Met) c.23A>T (p.Lys8Met) c.362A>T (p.Lys121Met) c.178A>T (p.Arg60Trp) | dbSNP |
| 1 | g.146018657T>C | CA342137756 | HJV | c.701A>G (p.Lys234Arg) c.23A>G (p.Lys8Arg) c.362A>G (p.Lys121Arg) c.178A>G (p.Arg60Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.146018657T>G | CA342137748 | HJV | c.701A>C (p.Lys234Thr) c.23A>C (p.Lys8Thr) c.362A>C (p.Lys121Thr) c.178A>C (p.Arg60=) | dbSNP |
| 1 | g.146018657T= | CA1198821050 | HJV | c.701A= (p.Lys234=) c.23A= (p.Lys8=) c.362A= (p.Lys121=) c.178A= (p.Arg60=) | |
| 1 | g.146018658T>A | CA342137763 | HJV | c.700A>T (p.Lys234Ter) c.22A>T (p.Lys8Ter) c.361A>T (p.Lys121Ter) c.177A>T (p.Arg59Ser) | |
| 1 | g.146018658T>C | CA342137767 | HJV | c.700A>G (p.Lys234Glu) c.22A>G (p.Lys8Glu) c.361A>G (p.Lys121Glu) c.177A>G (p.Arg59=) | dbSNP |
| 1 | g.146018658T>G | CA342137773 | HJV | c.700A>C (p.Lys234Gln) c.22A>C (p.Lys8Gln) c.361A>C (p.Lys121Gln) c.177A>C (p.Arg59Ser) | |
| 1 | g.146018658T= | CA1198821051 | HJV | c.700A= (p.Lys234=) c.22A= (p.Lys8=) c.361A= (p.Lys121=) c.177A= (p.Arg59=) | |
| 1 | g.146018659C>A | CA342137775 | HJV | c.699G>T (p.Gln233His) c.21G>T (p.Gln7His) c.360G>T (p.Gln120His) c.176G>T (p.Arg59Ile) | |
| 1 | g.146018659C>G | CA342137779 | HJV | c.699G>C (p.Gln233His) c.21G>C (p.Gln7His) c.360G>C (p.Gln120His) c.176G>C (p.Arg59Thr) | |
| 1 | g.146018659C>T | CA420603495 | HJV | c.699G>A (p.Gln233=) c.21G>A (p.Gln7=) c.360G>A (p.Gln120=) c.176G>A (p.Arg59Lys) | gnomAD v4 |
| 1 | g.146018660T>A | CA342137793 | HJV | c.698A>T (p.Gln233Leu) c.20A>T (p.Gln7Leu) c.359A>T (p.Gln120Leu) c.175A>T (p.Arg59Ter) | |
| 1 | g.146018660T>C | CA342137795 | HJV | c.698A>G (p.Gln233Arg) c.20A>G (p.Gln7Arg) c.359A>G (p.Gln120Arg) c.175A>G (p.Arg59Gly) | |
| 1 | g.146018660T>G | CA342137794 | HJV | c.698A>C (p.Gln233Pro) c.20A>C (p.Gln7Pro) c.359A>C (p.Gln120Pro) c.175A>C (p.Arg59=) | |
| 1 | g.146018660_146018661delinsTG | CA1198821052 | HJV | c.697_698delinsCA (p.Gln233=) c.19_20delinsCA (p.Gln7=) c.358_359delinsCA (p.Gln120=) c.174_175delinsCA (p.Ile58=) | |
| 1 | g.146018661del | CA891862668 | HJV | c.697del (p.Gln233ArgfsTer13) c.19del (p.Gln7ArgfsTer13) c.358del (p.Gln120ArgfsTer13) c.174del (p.Arg59GlufsTer6) | ClinVar dbSNP |
| 1 | g.146018661G>A | CA342137796 | HJV | c.697C>T (p.Gln233Ter) c.19C>T (p.Gln7Ter) c.358C>T (p.Gln120Ter) c.174C>T (p.Ile58=) | gnomAD v4 |
| 1 | g.146018661G>C | CA342137797 | HJV | c.697C>G (p.Gln233Glu) c.19C>G (p.Gln7Glu) c.358C>G (p.Gln120Glu) c.174C>G (p.Ile58Met) | |
| 1 | g.146018661G>T | CA342137800 | HJV | c.697C>A (p.Gln233Lys) c.19C>A (p.Gln7Lys) c.358C>A (p.Gln120Lys) c.174C>A (p.Ile58=) | |
| 1 | g.146018662A>C | CA342137803 | HJV | c.696T>G (p.Asp232Glu) c.18T>G (p.Asp6Glu) c.357T>G (p.Asp119Glu) c.173T>G (p.Ile58Ser) | |
| 1 | g.146018662A>G | CA420603499 | HJV | c.696T>C (p.Asp232=) c.18T>C (p.Asp6=) c.357T>C (p.Asp119=) c.173T>C (p.Ile58Thr) | |
| 1 | g.146018662A>T | CA342137806 | HJV | c.696T>A (p.Asp232Glu) c.18T>A (p.Asp6Glu) c.357T>A (p.Asp119Glu) c.173T>A (p.Ile58Asn) | |
| 1 | g.146018663T>A | CA342137813 | HJV | c.695A>T (p.Asp232Val) c.17A>T (p.Asp6Val) c.356A>T (p.Asp119Val) c.172A>T (p.Ile58Phe) | |
| 1 | g.146018663T>C | CA342137816 | HJV | c.695A>G (p.Asp232Gly) c.17A>G (p.Asp6Gly) c.356A>G (p.Asp119Gly) c.172A>G (p.Ile58Val) | |
| 1 | g.146018663T>G | CA342137819 | HJV | c.695A>C (p.Asp232Ala) c.17A>C (p.Asp6Ala) c.356A>C (p.Asp119Ala) c.172A>C (p.Ile58Leu) | |
| 1 | g.146018664C>A | CA342137823 | HJV | c.694G>T (p.Asp232Tyr) c.16G>T (p.Asp6Tyr) c.355G>T (p.Asp119Tyr) c.171G>T (p.Leu57Phe) | gnomAD v4 |
| 1 | g.146018664C= | CA1142322751 | HJV | c.694G= (p.Asp232=) c.16G= (p.Asp6=) c.355G= (p.Asp119=) c.171G= (p.Leu57=) | |
| 1 | g.146018664C>G | CA29823981 | HJV | c.694G>C (p.Asp232His) c.16G>C (p.Asp6His) c.355G>C (p.Asp119His) c.171G>C (p.Leu57Phe) | dbSNP |
| 1 | g.146018664C>T | CA342137834 | HJV | c.694G>A (p.Asp232Asn) c.16G>A (p.Asp6Asn) c.355G>A (p.Asp119Asn) c.171G>A (p.Leu57=) | |
| 1 | g.146018665A= | CA1198821053 | HJV | c.693T= (p.Ile231=) c.15T= (p.Ile5=) c.354T= (p.Ile118=) c.170T= (p.Leu57=) | |
| 1 | g.146018665A>C | CA342137837 | HJV | c.693T>G (p.Ile231Met) c.15T>G (p.Ile5Met) c.354T>G (p.Ile118Met) c.170T>G (p.Leu57Trp) | |
| 1 | g.146018665A>G | CA29823988 | HJV | c.693T>C (p.Ile231=) c.15T>C (p.Ile5=) c.354T>C (p.Ile118=) c.170T>C (p.Leu57Ser) | ClinVar dbSNP |
| 1 | g.146018665A>T | CA420603504 | HJV | c.693T>A (p.Ile231=) c.15T>A (p.Ile5=) c.354T>A (p.Ile118=) c.170T>A (p.Leu57Ter) | |
| 1 | g.146018666A= | CA1198821054 | HJV | c.692T= (p.Ile231=) c.14T= (p.Ile5=) c.353T= (p.Ile118=) c.169T= (p.Leu57=) | |
| 1 | g.146018666A>C | CA29823992 | HJV | c.692T>G (p.Ile231Ser) c.14T>G (p.Ile5Ser) c.353T>G (p.Ile118Ser) c.169T>G (p.Leu57Val) | |
| 1 | g.146018666A>G | CA1053885 | HJV | c.692T>C (p.Ile231Thr) c.14T>C (p.Ile5Thr) c.353T>C (p.Ile118Thr) c.169T>C (p.Leu57=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018666A>T | CA29823993 | HJV | c.692T>A (p.Ile231Asn) c.14T>A (p.Ile5Asn) c.353T>A (p.Ile118Asn) c.169T>A (p.Leu57Met) | |
| 1 | g.146018667T>A | CA342137841 | HJV | c.691A>T (p.Ile231Phe) c.13A>T (p.Ile5Phe) c.352A>T (p.Ile118Phe) c.168A>T (p.Ala56=) | |
| 1 | g.146018667T>C | CA342137842 | HJV | c.691A>G (p.Ile231Val) c.13A>G (p.Ile5Val) c.352A>G (p.Ile118Val) c.168A>G (p.Ala56=) | gnomAD v4 |
| 1 | g.146018667T>G | CA342137843 | HJV | c.691A>C (p.Ile231Leu) c.13A>C (p.Ile5Leu) c.352A>C (p.Ile118Leu) c.168A>C (p.Ala56=) | |
| 1 | g.146018668G>A | CA1053884 | HJV | c.690C>T (p.Cys230=) c.12C>T (p.Cys4=) c.351C>T (p.Cys117=) c.167C>T (p.Ala56Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.146018668G>C | CA29823994 | HJV | c.690C>G (p.Cys230Trp) c.12C>G (p.Cys4Trp) c.351C>G (p.Cys117Trp) c.167C>G (p.Ala56Gly) | |
| 1 | g.146018668G= | CA1198821055 | HJV | c.690C= (p.Cys230=) c.12C= (p.Cys4=) c.351C= (p.Cys117=) c.167C= (p.Ala56=) | |
| 1 | g.146018668G>T | CA29823999 | HJV | c.690C>A (p.Cys230Ter) c.12C>A (p.Cys4Ter) c.351C>A (p.Cys117Ter) c.167C>A (p.Ala56Glu) | |
| 1 | g.146018669C>A | CA342137854 | HJV | c.689G>T (p.Cys230Phe) c.11G>T (p.Cys4Phe) c.350G>T (p.Cys117Phe) c.166G>T (p.Ala56Ser) | |
| 1 | g.146018669C>G | CA342137855 | HJV | c.689G>C (p.Cys230Ser) c.11G>C (p.Cys4Ser) c.350G>C (p.Cys117Ser) c.166G>C (p.Ala56Pro) | |
| 1 | g.146018669C>T | CA342137856 | HJV | c.689G>A (p.Cys230Tyr) c.11G>A (p.Cys4Tyr) c.350G>A (p.Cys117Tyr) c.166G>A (p.Ala56Thr) | |
| 1 | g.146018670A= | CA1198821057 | HJV | c.688T= (p.Cys230=) c.10T= (p.Cys4=) c.349T= (p.Cys117=) c.165T= (p.Asn55=) | |
| 1 | g.146018670A>C | CA342137858 | HJV | c.688T>G (p.Cys230Gly) c.10T>G (p.Cys4Gly) c.349T>G (p.Cys117Gly) c.165T>G (p.Asn55Lys) | dbSNP |
| 1 | g.146018670A>G | CA342137860 | HJV | c.688T>C (p.Cys230Arg) c.10T>C (p.Cys4Arg) c.349T>C (p.Cys117Arg) c.165T>C (p.Asn55=) | dbSNP gnomAD v4 |
| 1 | g.146018670A>T | CA342137862 | HJV | c.688T>A (p.Cys230Ser) c.10T>A (p.Cys4Ser) c.349T>A (p.Cys117Ser) c.165T>A (p.Asn55Lys) | dbSNP |
| 1 | g.146018670_146018671delinsAT | CA1198821056 | HJV | c.687_688delinsAT (p.Glu229=) c.9_10delinsAT (p.Glu3=) c.348_349delinsAT (p.Glu116=) c.164_165delinsAT (p.Asn55=) | |
| 1 | g.146018671T>A | CA342137865 | HJV | c.687A>T (p.Glu229Asp) c.9A>T (p.Glu3Asp) c.348A>T (p.Glu116Asp) c.164A>T (p.Asn55Ile) | |
| 1 | g.146018671T>C | CA420603516 | HJV | c.687A>G (p.Glu229=) c.9A>G (p.Glu3=) c.348A>G (p.Glu116=) c.164A>G (p.Asn55Ser) | |
| 1 | g.146018671T>G | CA342137870 | HJV | c.687A>C (p.Glu229Asp) c.9A>C (p.Glu3Asp) c.348A>C (p.Glu116Asp) c.164A>C (p.Asn55Thr) | |
| 1 | g.146018672del | CA1198821058 | HJV | c.687del (p.Glu229AspfsTer17) c.9del (p.Glu3AspfsTer17) c.348del (p.Glu116AspfsTer17) c.164del (p.Asn55MetfsTer3) | dbSNP |
| 1 | g.146018672T>A | CA342137886 | HJV | c.686A>T (p.Glu229Val) c.8A>T (p.Glu3Val) c.347A>T (p.Glu116Val) c.163A>T (p.Asn55Tyr) | |
| 1 | g.146018672T>C | CA342137874 | HJV | c.686A>G (p.Glu229Gly) c.8A>G (p.Glu3Gly) c.347A>G (p.Glu116Gly) c.163A>G (p.Asn55Asp) | |
| 1 | g.146018672T>G | CA342137882 | HJV | c.686A>C (p.Glu229Ala) c.8A>C (p.Glu3Ala) c.347A>C (p.Glu116Ala) c.163A>C (p.Asn55His) | |
| 1 | g.146018673C>A | CA342137887 | HJV | c.685G>T (p.Glu229Ter) c.7G>T (p.Glu3Ter) c.346G>T (p.Glu116Ter) c.162G>T (p.Arg54Ser) | |
| 1 | g.146018673C>G | CA342137892 | HJV | c.685G>C (p.Glu229Gln) c.7G>C (p.Glu3Gln) c.346G>C (p.Glu116Gln) c.162G>C (p.Arg54Ser) | |
| 1 | g.146018673C>T | CA342137903 | HJV | c.685G>A (p.Glu229Lys) c.7G>A (p.Glu3Lys) c.346G>A (p.Glu116Lys) c.162G>A (p.Arg54=) | |
| 1 | g.146018674C>A | CA342137913 | HJV | c.684G>T (p.Gln228His) c.6G>T (p.Gln2His) c.345G>T (p.Gln115His) c.161G>T (p.Arg54Met) | |
| 1 | g.146018674C>G | CA342137916 | HJV | c.684G>C (p.Gln228His) c.6G>C (p.Gln2His) c.345G>C (p.Gln115His) c.161G>C (p.Arg54Thr) | |
| 1 | g.146018674C>T | CA420603524 | HJV | c.684G>A (p.Gln228=) c.6G>A (p.Gln2=) c.345G>A (p.Gln115=) c.161G>A (p.Arg54Lys) | |
| 1 | g.146018675T>A | CA342137920 | HJV | c.683A>T (p.Gln228Leu) c.5A>T (p.Gln2Leu) c.344A>T (p.Gln115Leu) c.160A>T (p.Arg54Trp) | |
| 1 | g.146018675T>C | CA342137921 | HJV | c.683A>G (p.Gln228Arg) c.5A>G (p.Gln2Arg) c.344A>G (p.Gln115Arg) c.160A>G (p.Arg54Gly) | |
| 1 | g.146018675T>G | CA342137925 | HJV | c.683A>C (p.Gln228Pro) c.5A>C (p.Gln2Pro) c.344A>C (p.Gln115Pro) c.160A>C (p.Arg54=) | |
| 1 | g.146018676G>A | CA342137927 | HJV | c.682C>T (p.Gln228Ter) c.4C>T (p.Gln2Ter) c.343C>T (p.Gln115Ter) c.159C>T (p.Cys53=) | |
| 1 | g.146018676G>C | CA342137928 | HJV | c.682C>G (p.Gln228Glu) c.4C>G (p.Gln2Glu) c.343C>G (p.Gln115Glu) c.159C>G (p.Cys53Trp) | |
| 1 | g.146018676G= | CA1142090280 | HJV | c.682C= (p.Gln228=) c.4C= (p.Gln2=) c.343C= (p.Gln115=) c.159C= (p.Cys53=) | |
| 1 | g.146018676G>T | CA1053883 | HJV | c.682C>A (p.Gln228Lys) c.4C>A (p.Gln2Lys) c.343C>A (p.Gln115Lys) c.159C>A (p.Cys53Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018677C>A | CA342137963 | HJV | c.681G>T (p.Met227Ile) c.3G>T (p.Met1Ile) c.342G>T (p.Met114Ile) c.158G>T (p.Cys53Phe) | dbSNP |
| 1 | g.146018677C>G | CA342137950 | HJV | c.681G>C (p.Met227Ile) c.3G>C (p.Met1Ile) c.342G>C (p.Met114Ile) c.158G>C (p.Cys53Ser) | |
| 1 | g.146018677C>T | CA342137946 | HJV | c.681G>A (p.Met227Ile) c.3G>A (p.Met1Ile) c.342G>A (p.Met114Ile) c.158G>A (p.Cys53Tyr) | |
| 1 | g.146018678A>C | CA342137976 | HJV | c.680T>G (p.Met227Arg) c.2T>G (p.Met1Arg) c.341T>G (p.Met114Arg) c.157T>G (p.Cys53Gly) | |
| 1 | g.146018678A>G | CA342137985 | HJV | c.680T>C (p.Met227Thr) c.2T>C (p.Met1Thr) c.341T>C (p.Met114Thr) c.157T>C (p.Cys53Arg) | gnomAD v4 COSMIC |
| 1 | g.146018678A>T | CA342137981 | HJV | c.680T>A (p.Met227Lys) c.2T>A (p.Met1Lys) c.341T>A (p.Met114Lys) c.157T>A (p.Cys53Ser) | |
| 1 | g.146018679T>A | CA342138008 | HJV | c.679A>T (p.Met227Leu) c.1A>T (p.Met1Leu) c.340A>T (p.Met114Leu) c.156A>T (p.Thr52=) | |
| 1 | g.146018679T>C | CA342138025 | HJV | c.679A>G (p.Met227Val) c.1A>G (p.Met1Val) c.340A>G (p.Met114Val) c.156A>G (p.Thr52=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018679T>G | CA342138024 | HJV | c.679A>C (p.Met227Leu) c.1A>C (p.Met1Leu) c.340A>C (p.Met114Leu) c.156A>C (p.Thr52=) | |
| 1 | g.146018679T= | CA1198821059 | HJV | c.679A= (p.Met227=) c.1A= (p.Met1=) c.340A= (p.Met114=) c.156A= (p.Thr52=) | |
| 1 | g.146018680G>A | CA420603536 | HJV | c.678C>T (p.Asn226=) c.-1C>T (n.-1C>T) c.339C>T (p.Asn113=) c.155C>T (p.Thr52Ile) | |
| 1 | g.146018680G>C | CA342138028 | HJV | c.678C>G (p.Asn226Lys) c.-1C>G (n.-1C>G) c.339C>G (p.Asn113Lys) c.155C>G (p.Thr52Arg) | |
| 1 | g.146018680G>T | CA342138031 | HJV | c.678C>A (p.Asn226Lys) c.-1C>A (n.-1C>A) c.339C>A (p.Asn113Lys) c.155C>A (p.Thr52Lys) | |
| 1 | g.146018681T>A | CA342138045 | HJV | c.677A>T (p.Asn226Ile) c.-2A>T (n.-2A>T) c.338A>T (p.Asn113Ile) c.154A>T (p.Thr52Ser) | |
| 1 | g.146018681T>C | CA342138048 | HJV | c.677A>G (p.Asn226Ser) c.-2A>G (n.-2A>G) c.338A>G (p.Asn113Ser) c.154A>G (p.Thr52Ala) | |
| 1 | g.146018681T>G | CA342138050 | HJV | c.677A>C (p.Asn226Thr) c.-2A>C (n.-2A>C) c.338A>C (p.Asn113Thr) c.154A>C (p.Thr52Pro) | |
| 1 | g.146018682T>A | CA342138056 | HJV | c.676A>T (p.Asn226Tyr) c.-3A>T (n.-3A>T) c.337A>T (p.Asn113Tyr) c.153A>T (p.Arg51Ser) | |
| 1 | g.146018682T>C | CA342138064 | HJV | c.676A>G (p.Asn226Asp) c.-3A>G (n.-3A>G) c.337A>G (p.Asn113Asp) c.153A>G (p.Arg51=) | |
| 1 | g.146018682T>G | CA342138069 | HJV | c.676A>C (p.Asn226His) c.-3A>C (n.-3A>C) c.337A>C (p.Asn113His) c.153A>C (p.Arg51Ser) | |
| 1 | g.146018683C>A | CA342138074 | HJV | c.675G>T (p.Lys225Asn) c.-4G>T (n.-4G>T) c.336G>T (p.Lys112Asn) c.152G>T (p.Arg51Ile) | |
| 1 | g.146018683C>G | CA342138079 | HJV | c.675G>C (p.Lys225Asn) c.-4G>C (n.-4G>C) c.336G>C (p.Lys112Asn) c.152G>C (p.Arg51Thr) | |
| 1 | g.146018683C>T | CA420603543 | HJV | c.675G>A (p.Lys225=) c.-4G>A (n.-4G>A) c.336G>A (p.Lys112=) c.152G>A (p.Arg51Lys) | gnomAD v4 COSMIC |
| 1 | g.146018684T>A | CA342138085 | HJV | c.674A>T (p.Lys225Met) c.-5A>T (n.-5A>T) c.335A>T (p.Lys112Met) c.151A>T (p.Arg51Ter) | |
| 1 | g.146018684T>C | CA342138086 | HJV | c.674A>G (p.Lys225Arg) c.-5A>G (n.-5A>G) c.335A>G (p.Lys112Arg) c.151A>G (p.Arg51Gly) | |
| 1 | g.146018684T>G | CA342138088 | HJV | c.674A>C (p.Lys225Thr) c.-5A>C (n.-5A>C) c.335A>C (p.Lys112Thr) c.151A>C (p.Arg51=) | |
| 1 | g.146018685T>A | CA342138107 | HJV | c.673A>T (p.Lys225Ter) c.-6A>T (n.-6A>T) c.334A>T (p.Lys112Ter) c.150A>T (p.Leu50Phe) | |
| 1 | g.146018685T>C | CA342138118 | HJV | c.673A>G (p.Lys225Glu) c.-6A>G (n.-6A>G) c.334A>G (p.Lys112Glu) c.150A>G (p.Leu50=) | gnomAD v4 |
| 1 | g.146018685T>G | CA342138114 | HJV | c.673A>C (p.Lys225Gln) c.-6A>C (n.-6A>C) c.334A>C (p.Lys112Gln) c.150A>C (p.Leu50Phe) | |
| 1 | g.146018686A>C | CA342138121 | HJV | c.672T>G (p.Phe224Leu) c.-7T>G (n.-7T>G) c.333T>G (p.Phe111Leu) c.149T>G (p.Leu50Ter) | |
| 1 | g.146018686A>G | CA420603550 | HJV | c.672T>C (p.Phe224=) c.-7T>C (n.-7T>C) c.333T>C (p.Phe111=) c.149T>C (p.Leu50Ser) | |
| 1 | g.146018686A>T | CA342138123 | HJV | c.672T>A (p.Phe224Leu) c.-7T>A (n.-7T>A) c.333T>A (p.Phe111Leu) c.149T>A (p.Leu50Ter) | |
| 1 | g.146018687A>C | CA342138125 | HJV | c.671T>G (p.Phe224Cys) c.-8T>G (n.-8T>G) c.332T>G (p.Phe111Cys) c.148T>G (p.Leu50Val) | |
| 1 | g.146018687A>G | CA342138126 | HJV | c.671T>C (p.Phe224Ser) c.-8T>C (n.-8T>C) c.332T>C (p.Phe111Ser) c.148T>C (p.Leu50=) | |
| 1 | g.146018687A>T | CA342138127 | HJV | c.671T>A (p.Phe224Tyr) c.-8T>A (n.-8T>A) c.332T>A (p.Phe111Tyr) c.148T>A (p.Leu50Ile) | |
| 1 | g.146018688A= | CA1148208118 | HJV | c.670T= (p.Phe224=) c.-9T= (n.-9T=) c.331T= (p.Phe111=) c.147T= (p.Tyr49=) | |
| 1 | g.146018688A>C | CA29824009 | HJV | c.670T>G (p.Phe224Val) c.-9T>G (n.-9T>G) c.331T>G (p.Phe111Val) c.147T>G (p.Tyr49Ter) | |
| 1 | g.146018688A>G | CA1053882 | HJV | c.670T>C (p.Phe224Leu) c.-9T>C (n.-9T>C) c.331T>C (p.Phe111Leu) c.147T>C (p.Tyr49=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018688A>T | CA29824023 | HJV | c.670T>A (p.Phe224Ile) c.-9T>A (n.-9T>A) c.331T>A (p.Phe111Ile) c.147T>A (p.Tyr49Ter) | |
| 1 | g.146018689T>A | CA420603559 | HJV | c.669A>T (p.Ile223=) c.-10A>T (n.-10A>T) c.330A>T (p.Ile110=) c.146A>T (p.Tyr49Phe) | |
| 1 | g.146018689T>C | CA342138139 | HJV | c.669A>G (p.Ile223Met) c.-10A>G (n.-10A>G) c.330A>G (p.Ile110Met) c.146A>G (p.Tyr49Cys) | |
| 1 | g.146018689T>G | CA420603558 | HJV | c.669A>C (p.Ile223=) c.-10A>C (n.-10A>C) c.330A>C (p.Ile110=) c.146A>C (p.Tyr49Ser) | |
| 1 | g.146018690A= | CA1198821060 | HJV | c.668T= (p.Ile223=) c.-11T= (n.-11T=) c.329T= (p.Ile110=) c.145T= (p.Tyr49=) | |
| 1 | g.146018690A>C | CA342138154 | HJV | c.668T>G (p.Ile223Arg) c.-11T>G (n.-11T>G) c.329T>G (p.Ile110Arg) c.145T>G (p.Tyr49Asp) | |
| 1 | g.146018690A>G | CA342138151 | HJV | c.668T>C (p.Ile223Thr) c.-11T>C (n.-11T>C) c.329T>C (p.Ile110Thr) c.145T>C (p.Tyr49His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018690A>T | CA342138148 | HJV | c.668T>A (p.Ile223Lys) c.-11T>A (n.-11T>A) c.329T>A (p.Ile110Lys) c.145T>A (p.Tyr49Asn) | |
| 1 | g.146018691T>A | CA342138162 | HJV | c.667A>T (p.Ile223Leu) c.-12A>T (n.-12A>T) c.328A>T (p.Ile110Leu) c.144A>T (p.Ser48=) | |
| 1 | g.146018691T>C | CA342138165 | HJV | c.667A>G (p.Ile223Val) c.-12A>G (n.-12A>G) c.328A>G (p.Ile110Val) c.144A>G (p.Ser48=) | |
| 1 | g.146018691T>G | CA342138169 | HJV | c.667A>C (p.Ile223Leu) c.-12A>C (n.-12A>C) c.328A>C (p.Ile110Leu) c.144A>C (p.Ser48=) | |
| 1 | g.146018692G>A | CA420603567 | HJV | c.666C>T (p.Ile222=) c.-13C>T (n.-13C>T) c.327C>T (p.Ile109=) c.143C>T (p.Ser48Leu) | |
| 1 | g.146018692G>C | CA1053881 | HJV | c.666C>G (p.Ile222Met) c.-13C>G (n.-13C>G) c.327C>G (p.Ile109Met) c.143C>G (p.Ser48Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018692G= | CA1198821061 | HJV | c.666C= (p.Ile222=) c.-13C= (n.-13C=) c.327C= (p.Ile109=) c.143C= (p.Ser48=) | |
| 1 | g.146018692G>T | CA420603562 | HJV | c.666C>A (p.Ile222=) c.-13C>A (n.-13C>A) c.327C>A (p.Ile109=) c.143C>A (p.Ser48Ter) | |
| 1 | g.146018693A= | CA1140886751 | HJV | c.665T= (p.Ile222=) c.-14T= (n.-14T=) c.326T= (p.Ile109=) c.142T= (p.Ser48=) | |
| 1 | g.146018693A>C | CA342138176 | HJV | c.665T>G (p.Ile222Ser) c.-14T>G (n.-14T>G) c.326T>G (p.Ile109Ser) c.142T>G (p.Ser48Ala) | |
| 1 | g.146018693A>G | CA342138178 | HJV | c.665T>C (p.Ile222Thr) c.-14T>C (n.-14T>C) c.326T>C (p.Ile109Thr) c.142T>C (p.Ser48Pro) | gnomAD v4 |
| 1 | g.146018693A>T | CA252252 | HJV | c.665T>A (p.Ile222Asn) c.-14T>A (n.-14T>A) c.326T>A (p.Ile109Asn) c.142T>A (p.Ser48Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |