| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.78964535G>A | CA121104145 | ARSB | c.571C>T (p.Arg191Ter) n.642C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.78964535G>C | CA360193326 | ARSB | c.571C>G (p.Arg191Gly) n.642C>G | dbSNP |
| 5 | g.78964535G= | CA1557701758 | ARSB | c.571C= (p.Arg191=) n.642C= | |
| 5 | g.78964535G>T | CA445102144 | ARSB | c.571C>A (p.Arg191=) n.642C>A | |
| 5 | g.78964536T>A | CA445102155 | ARSB | c.570A>T (p.Thr190=) n.641A>T | |
| 5 | g.78964536T>C | CA3318228 | ARSB | c.570A>G (p.Thr190=) n.641A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964536T>G | CA445102167 | ARSB | c.570A>C (p.Thr190=) n.641A>C | |
| 5 | g.78964536T= | CA1557701759 | ARSB | c.570A= (p.Thr190=) n.641A= | |
| 5 | g.78964537G>A | CA3318229 | ARSB | c.569C>T (p.Thr190Ile) n.640C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78964537G>C | CA360193327 | ARSB | c.569C>G (p.Thr190Arg) n.640C>G | |
| 5 | g.78964537G= | CA1557701760 | ARSB | c.569C= (p.Thr190=) n.640C= | |
| 5 | g.78964537G>T | CA360193328 | ARSB | c.569C>A (p.Thr190Lys) n.640C>A | |
| 5 | g.78964538T>A | CA3318230 | ARSB | c.568A>T (p.Thr190Ser) n.639A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78964538T>C | CA121104174 | ARSB | c.568A>G (p.Thr190Ala) n.639A>G | dbSNP |
| 5 | g.78964538T>G | CA360193329 | ARSB | c.568A>C (p.Thr190Pro) n.639A>C | |
| 5 | g.78964538T= | CA1557701761 | ARSB | c.568A= (p.Thr190=) n.639A= | |
| 5 | g.78964539G>A | CA445102191 | ARSB | c.567C>T (p.Val189=) n.638C>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78964539G>C | CA445102194 | ARSB | c.567C>G (p.Val189=) n.638C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964539G= | CA1557701762 | ARSB | c.567C= (p.Val189=) n.638C= | |
| 5 | g.78964539G>T | CA445102196 | ARSB | c.567C>A (p.Val189=) n.638C>A | |
| 5 | g.78964540A>C | CA360193330 | ARSB | c.566T>G (p.Val189Gly) n.637T>G | |
| 5 | g.78964540A>G | CA360193331 | ARSB | c.566T>C (p.Val189Ala) n.637T>C | |
| 5 | g.78964540A>T | CA360193332 | ARSB | c.566T>A (p.Val189Asp) n.637T>A | |
| 5 | g.78964541C>A | CA360193333 | ARSB | c.565G>T (p.Val189Phe) n.636G>T | |
| 5 | g.78964541C>G | CA360193334 | ARSB | c.565G>C (p.Val189Leu) n.636G>C | |
| 5 | g.78964541C>T | CA360193335 | ARSB | c.565G>A (p.Val189Ile) n.636G>A | |
| 5 | g.78964542A>C | CA360193336 | ARSB | c.564T>G (p.Asn188Lys) n.635T>G | |
| 5 | g.78964542A>G | CA445102207 | ARSB | c.564T>C (p.Asn188=) n.635T>C | |
| 5 | g.78964542A>T | CA360193337 | ARSB | c.564T>A (p.Asn188Lys) n.635T>A | |
| 5 | g.78964543T>A | CA360193338 | ARSB | c.563A>T (p.Asn188Ile) n.634A>T | |
| 5 | g.78964543T>C | CA360193340 | ARSB | c.563A>G (p.Asn188Ser) n.634A>G | |
| 5 | g.78964543T>G | CA360193339 | ARSB | c.563A>C (p.Asn188Thr) n.634A>C | |
| 5 | g.78964544T>A | CA360193341 | ARSB | c.562A>T (p.Asn188Tyr) n.633A>T | |
| 5 | g.78964544T>C | CA360193342 | ARSB | c.562A>G (p.Asn188Asp) n.633A>G | |
| 5 | g.78964544T>G | CA360193343 | ARSB | c.562A>C (p.Asn188His) n.633A>C | |
| 5 | g.78964545C>A | CA445102213 | ARSB | c.561G>T (p.Leu187=) n.632G>T | |
| 5 | g.78964545C>G | CA445102214 | ARSB | c.561G>C (p.Leu187=) n.632G>C | |
| 5 | g.78964545C>T | CA445102215 | ARSB | c.561G>A (p.Leu187=) n.632G>A | |
| 5 | g.78964546A>C | CA360193344 | ARSB | c.560T>G (p.Leu187Arg) n.631T>G | |
| 5 | g.78964546A>G | CA360193345 | ARSB | c.560T>C (p.Leu187Pro) n.631T>C | |
| 5 | g.78964546A>T | CA360193346 | ARSB | c.560T>A (p.Leu187Gln) n.631T>A | |
| 5 | g.78964547G>A | CA3318231 | ARSB | c.559C>T (p.Leu187=) n.630C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78964547G>C | CA360193347 | ARSB | c.559C>G (p.Leu187Val) n.630C>G | gnomAD v4 |
| 5 | g.78964547G= | CA1557701763 | ARSB | c.559C= (p.Leu187=) n.630C= | |
| 5 | g.78964547G>T | CA360193348 | ARSB | c.559C>A (p.Leu187Met) n.630C>A | dbSNP gnomAD v2 |
| 5 | g.78964548A>C | CA445102220 | ARSB | c.558T>G (p.Ala186=) n.629T>G | |
| 5 | g.78964548A>G | CA445102223 | ARSB | c.558T>C (p.Ala186=) n.629T>C | |
| 5 | g.78964548A>T | CA445102221 | ARSB | c.558T>A (p.Ala186=) n.629T>A | |
| 5 | g.78964549G>A | CA3318233 | ARSB | c.557C>T (p.Ala186Val) n.628C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78964549G>C | CA3318232 | ARSB | c.557C>G (p.Ala186Gly) n.628C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |