| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.78964435G>A | CA360193027 | ARSB | c.671C>T (p.Thr224Ile) n.742C>T | |
| 5 | g.78964435G>C | CA360193028 | ARSB | c.671C>G (p.Thr224Ser) n.742C>G | gnomAD v4 |
| 5 | g.78964435G>T | CA360193029 | ARSB | c.671C>A (p.Thr224Asn) n.742C>A | |
| 5 | g.78964436T>A | CA360193031 | ARSB | c.670A>T (p.Thr224Ser) n.741A>T | |
| 5 | g.78964436T>C | CA360193032 | ARSB | c.670A>G (p.Thr224Ala) n.741A>G | |
| 5 | g.78964436T>G | CA360193034 | ARSB | c.670A>C (p.Thr224Pro) n.741A>C | COSMIC COSMIC |
| 5 | g.78964437T>A | CA445101484 | ARSB | c.669A>T (p.Ile223=) n.740A>T | |
| 5 | g.78964437T>C | CA360193036 | ARSB | c.669A>G (p.Ile223Met) n.740A>G | |
| 5 | g.78964437T>G | CA445101486 | ARSB | c.669A>C (p.Ile223=) n.740A>C | |
| 5 | g.78964438A>C | CA360193039 | ARSB | c.668T>G (p.Ile223Arg) n.739T>G | |
| 5 | g.78964438A>G | CA360193041 | ARSB | c.668T>C (p.Ile223Thr) n.739T>C | |
| 5 | g.78964438A>T | CA360193038 | ARSB | c.668T>A (p.Ile223Lys) n.739T>A | |
| 5 | g.78964439T>A | CA360193043 | ARSB | c.667A>T (p.Ile223Leu) n.738A>T | |
| 5 | g.78964439T>C | CA3318213 | ARSB | c.667A>G (p.Ile223Val) n.738A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964439T>G | CA360193045 | ARSB | c.667A>C (p.Ile223Leu) n.738A>C | |
| 5 | g.78964439T= | CA1557701727 | ARSB | c.667A= (p.Ile223=) n.738A= | |
| 5 | g.78964440G>A | CA445101503 | ARSB | c.666C>T (p.Leu222=) n.737C>T | ClinVar dbSNP gnomAD v4 |
| 5 | g.78964440G>C | CA445101507 | ARSB | c.666C>G (p.Leu222=) n.737C>G | |
| 5 | g.78964440G= | CA1557701728 | ARSB | c.666C= (p.Leu222=) n.737C= | |
| 5 | g.78964440G>T | CA445101504 | ARSB | c.666C>A (p.Leu222=) n.737C>A | |
| 5 | g.78964441A>C | CA360193047 | ARSB | c.665T>G (p.Leu222Arg) n.736T>G | |
| 5 | g.78964441A>G | CA360193048 | ARSB | c.665T>C (p.Leu222Pro) n.736T>C | |
| 5 | g.78964441A>T | CA360193050 | ARSB | c.665T>A (p.Leu222His) n.736T>A | |
| 5 | g.78964442G>A | CA360193052 | ARSB | c.664C>T (p.Leu222Phe) n.735C>T | |
| 5 | g.78964442G>C | CA360193054 | ARSB | c.664C>G (p.Leu222Val) n.735C>G | |
| 5 | g.78964442G>T | CA360193055 | ARSB | c.664C>A (p.Leu222Ile) n.735C>A | |
| 5 | g.78964443G>A | CA3318214 | ARSB | c.663C>T (p.Ala221=) n.734C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964443G>C | CA445101527 | ARSB | c.663C>G (p.Ala221=) n.734C>G | |
| 5 | g.78964443G= | CA1557701729 | ARSB | c.663C= (p.Ala221=) n.734C= | |
| 5 | g.78964443G>T | CA445101529 | ARSB | c.663C>A (p.Ala221=) n.734C>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78964444G>A | CA360193058 | ARSB | c.662C>T (p.Ala221Val) n.733C>T | |
| 5 | g.78964444G>C | CA360193059 | ARSB | c.662C>G (p.Ala221Gly) n.733C>G | |
| 5 | g.78964444G>T | CA360193061 | ARSB | c.662C>A (p.Ala221Asp) n.733C>A | dbSNP gnomAD v4 |
| 5 | g.78964445C>A | CA360193066 | ARSB | c.661G>T (p.Ala221Ser) n.732G>T | |
| 5 | g.78964445C>G | CA360193064 | ARSB | c.661G>C (p.Ala221Pro) n.732G>C | |
| 5 | g.78964445C>T | CA360193063 | ARSB | c.661G>A (p.Ala221Thr) n.732G>A | |
| 5 | g.78964445_78964447delinsCTA | CA1557701730 | ARSB | c.659_661delinsTAG (p.Ile220=) n.730_732delinsTAG | |
| 5 | g.78964446T>A | CA445101539 | ARSB | c.660A>T (p.Ile220=) n.731A>T | |
| 5 | g.78964446T>C | CA360193068 | ARSB | c.660A>G (p.Ile220Met) n.731A>G | |
| 5 | g.78964446T>G | CA445101543 | ARSB | c.660A>C (p.Ile220=) n.731A>C | |
| 5 | g.78964448_78964449del | CA658822930 | ARSB | c.659_660del (p.Ile220SerfsTer5) n.730_731del | ClinVar dbSNP |
| 5 | g.78964447_78964460del | CA2674368564 | ARSB | c.647_660del (p.Thr216SerfsTer5) n.718_731del | gnomAD v4 |
| 5 | g.78964447del | CA2674368565 | ARSB | c.659del (p.Ile220LysfsTer4) n.730del | ClinVar gnomAD v4 |
| 5 | g.78964447A= | CA1557701731 | ARSB | c.659T= (p.Ile220=) n.730T= | |
| 5 | g.78964447A>C | CA360193070 | ARSB | c.659T>G (p.Ile220Arg) n.730T>G | |
| 5 | g.78964447A>G | CA121104043 | ARSB | c.659T>C (p.Ile220Thr) n.730T>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78964447A>T | CA360193072 | ARSB | c.659T>A (p.Ile220Lys) n.730T>A | |
| 5 | g.78964448T>A | CA360193074 | ARSB | c.658A>T (p.Ile220Leu) n.729A>T | |
| 5 | g.78964448T>C | CA3318215 | ARSB | c.658A>G (p.Ile220Val) n.729A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964448T>G | CA360193076 | ARSB | c.658A>C (p.Ile220Leu) n.729A>C |