| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.121846916_121846925del | CA2575327680 | HPD | c.770_779del (p.Asp257GlyfsTer22) c.653_662del (p.Asp218GlyfsTer22) | |
| 12 | g.121846919A= | CA2068077955 | HPD | c.774T= (p.Tyr258=) c.657T= (p.Tyr219=) | |
| 12 | g.121846919A>C | CA115059 | HPD | c.774T>G (p.Tyr258Ter) c.657T>G (p.Tyr219Ter) | ClinVar dbSNP |
| 12 | g.121846919A>G | CA482193311 | HPD | c.774T>C (p.Tyr258=) c.657T>C (p.Tyr219=) | |
| 12 | g.121846919A>T | CA387012848 | HPD | c.774T>A (p.Tyr258Ter) c.657T>A (p.Tyr219Ter) | |
| 12 | g.121846920T>A | CA387012853 | HPD | c.773A>T (p.Tyr258Phe) c.656A>T (p.Tyr219Phe) | |
| 12 | g.121846920T>C | CA387012856 | HPD | c.773A>G (p.Tyr258Cys) c.656A>G (p.Tyr219Cys) | |
| 12 | g.121846920T>G | CA387012868 | HPD | c.773A>C (p.Tyr258Ser) c.656A>C (p.Tyr219Ser) | |
| 12 | g.121846921A>C | CA387012873 | HPD | c.772T>G (p.Tyr258Asp) c.655T>G (p.Tyr219Asp) | |
| 12 | g.121846921A>G | CA387012876 | HPD | c.772T>C (p.Tyr258His) c.655T>C (p.Tyr219His) | gnomAD v4 |
| 12 | g.121846921A>T | CA387012880 | HPD | c.772T>A (p.Tyr258Asn) c.655T>A (p.Tyr219Asn) | |
| 12 | g.121846922G>A | CA482193317 | HPD | c.771C>T (p.Asp257=) c.654C>T (p.Asp218=) | |
| 12 | g.121846922G>C | CA387012884 | HPD | c.771C>G (p.Asp257Glu) c.654C>G (p.Asp218Glu) | |
| 12 | g.121846922G>T | CA387012887 | HPD | c.771C>A (p.Asp257Glu) c.654C>A (p.Asp218Glu) | |
| 12 | g.121846923T>A | CA387012891 | HPD | c.770A>T (p.Asp257Val) c.653A>T (p.Asp218Val) | |
| 12 | g.121846923T>C | CA387012901 | HPD | c.770A>G (p.Asp257Gly) c.653A>G (p.Asp218Gly) | gnomAD v4 |
| 12 | g.121846923T>G | CA387012894 | HPD | c.770A>C (p.Asp257Ala) c.653A>C (p.Asp218Ala) | |
| 12 | g.121846924C>A | CA387012906 | HPD | c.769G>T (p.Asp257Tyr) c.652G>T (p.Asp218Tyr) | |
| 12 | g.121846924C>G | CA387012919 | HPD | c.769G>C (p.Asp257His) c.652G>C (p.Asp218His) | |
| 12 | g.121846924C>T | CA387012910 | HPD | c.769G>A (p.Asp257Asn) c.652G>A (p.Asp218Asn) | |
| 12 | g.121846925C>A | CA482193321 | HPD | c.768G>T (p.Val256=) c.651G>T (p.Val217=) | |
| 12 | g.121846925C>G | CA482193323 | HPD | c.768G>C (p.Val256=) c.651G>C (p.Val217=) | |
| 12 | g.121846925C>T | CA482193324 | HPD | c.768G>A (p.Val256=) c.651G>A (p.Val217=) | |
| 12 | g.121846926A= | CA2068077965 | HPD | c.767T= (p.Val256=) c.650T= (p.Val217=) | |
| 12 | g.121846926A>C | CA387012925 | HPD | c.767T>G (p.Val256Gly) c.650T>G (p.Val217Gly) | |
| 12 | g.121846926A>G | CA387012930 | HPD | c.767T>C (p.Val256Ala) c.650T>C (p.Val217Ala) | dbSNP gnomAD v2 |
| 12 | g.121846926A>T | CA387012932 | HPD | c.767T>A (p.Val256Glu) c.650T>A (p.Val217Glu) | |
| 12 | g.121846927C>A | CA387012936 | HPD | c.766G>T (p.Val256Leu) c.649G>T (p.Val217Leu) | |
| 12 | g.121846927C= | CA2068077976 | HPD | c.766G= (p.Val256=) c.649G= (p.Val217=) | |
| 12 | g.121846927C>G | CA387012940 | HPD | c.766G>C (p.Val256Leu) c.649G>C (p.Val217Leu) | |
| 12 | g.121846927C>T | CA6839537 | HPD | c.766G>A (p.Val256Met) c.649G>A (p.Val217Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.121846928A= | CA2068077983 | HPD | c.765T= (p.Tyr255=) c.648T= (p.Tyr216=) | |
| 12 | g.121846928A>C | CA387012956 | HPD | c.765T>G (p.Tyr255Ter) c.648T>G (p.Tyr216Ter) | dbSNP gnomAD v4 |
| 12 | g.121846928A>G | CA6839538 | HPD | c.765T>C (p.Tyr255=) c.648T>C (p.Tyr216=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121846928A>T | CA387012965 | HPD | c.765T>A (p.Tyr255Ter) c.648T>A (p.Tyr216Ter) | |
| 12 | g.121846929T>A | CA387012969 | HPD | c.764A>T (p.Tyr255Phe) c.647A>T (p.Tyr216Phe) | |
| 12 | g.121846929T>C | CA387012974 | HPD | c.764A>G (p.Tyr255Cys) c.647A>G (p.Tyr216Cys) | |
| 12 | g.121846929T>G | CA387012984 | HPD | c.764A>C (p.Tyr255Ser) c.647A>C (p.Tyr216Ser) | |
| 12 | g.121846930A>C | CA387012996 | HPD | c.763T>G (p.Tyr255Asp) c.646T>G (p.Tyr216Asp) | |
| 12 | g.121846930A>G | CA387012989 | HPD | c.763T>C (p.Tyr255His) c.646T>C (p.Tyr216His) | |
| 12 | g.121846930A>T | CA387012992 | HPD | c.763T>A (p.Tyr255Asn) c.646T>A (p.Tyr216Asn) | |
| 12 | g.121846931T>A | CA387013000 | HPD | c.762A>T (p.Glu254Asp) c.645A>T (p.Glu215Asp) | |
| 12 | g.121846931T>C | CA482193329 | HPD | c.762A>G (p.Glu254=) c.645A>G (p.Glu215=) | |
| 12 | g.121846931T>G | CA387013008 | HPD | c.762A>C (p.Glu254Asp) c.645A>C (p.Glu215Asp) | |
| 12 | g.121846932T>A | CA387013010 | HPD | c.761A>T (p.Glu254Val) c.644A>T (p.Glu215Val) | |
| 12 | g.121846932T>C | CA387013013 | HPD | c.761A>G (p.Glu254Gly) c.644A>G (p.Glu215Gly) | gnomAD v4 |
| 12 | g.121846932T>G | CA387013014 | HPD | c.761A>C (p.Glu254Ala) c.644A>C (p.Glu215Ala) | |
| 12 | g.121846933C>A | CA387013015 | HPD | c.760G>T (p.Glu254Ter) c.643G>T (p.Glu215Ter) | |
| 12 | g.121846933C>G | CA387013018 | HPD | c.760G>C (p.Glu254Gln) c.643G>C (p.Glu215Gln) | |
| 12 | g.121846933C>T | CA387013022 | HPD | c.760G>A (p.Glu254Lys) c.643G>A (p.Glu215Lys) | COSMIC |