| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.74636560C>A | CA496543484 | RFWD3 | c.1212G>T (p.Thr404=) c.378G>T (p.Thr126=) | |
| 16 | g.74636560C= | CA2232906004 | RFWD3 | c.1212G= (p.Thr404=) c.378G= (p.Thr126=) | |
| 16 | g.74636560C>G | CA496543485 | RFWD3 | c.1212G>C (p.Thr404=) c.378G>C (p.Thr126=) | |
| 16 | g.74636560C>T | CA8169272 | RFWD3 | c.1212G>A (p.Thr404=) c.378G>A (p.Thr126=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.74636560_74636561del | CA2634278652 | RFWD3 | c.1211_1212del (p.Thr404IlefsTer?) c.377_378del (p.Thr126IlefsTer?) | gnomAD v4 |
| 16 | g.74636561G>A | CA8169274 | RFWD3 | c.1211C>T (p.Thr404Met) c.377C>T (p.Thr126Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.74636561G>C | CA396762205 | RFWD3 | c.1211C>G (p.Thr404Arg) c.377C>G (p.Thr126Arg) | |
| 16 | g.74636561G= | CA2232906005 | RFWD3 | c.1211C= (p.Thr404=) c.377C= (p.Thr126=) | |
| 16 | g.74636561G>T | CA396762206 | RFWD3 | c.1211C>A (p.Thr404Lys) c.377C>A (p.Thr126Lys) | |
| 16 | g.74636562T>A | CA396762209 | RFWD3 | c.1210A>T (p.Thr404Ser) c.376A>T (p.Thr126Ser) | |
| 16 | g.74636562T>C | CA396762208 | RFWD3 | c.1210A>G (p.Thr404Ala) c.376A>G (p.Thr126Ala) | |
| 16 | g.74636562T>G | CA396762207 | RFWD3 | c.1210A>C (p.Thr404Pro) c.376A>C (p.Thr126Pro) | |
| 16 | g.74636562dup | CA8169273 | RFWD3 | c.1210dup (p.Thr404AsnfsTer?) c.376dup (p.Thr126AsnfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.74636563A>C | CA496543494 | RFWD3 | c.1209T>G (p.Leu403=) c.375T>G (p.Leu125=) | |
| 16 | g.74636563A>G | CA496543498 | RFWD3 | c.1209T>C (p.Leu403=) c.375T>C (p.Leu125=) | |
| 16 | g.74636563A>T | CA496543496 | RFWD3 | c.1209T>A (p.Leu403=) c.375T>A (p.Leu125=) | |
| 16 | g.74636563_74636564del | CA2634278654 | RFWD3 | c.1208_1209del (p.Leu403HisfsTer?) c.374_375del (p.Leu125HisfsTer?) | gnomAD v4 |
| 16 | g.74636564dup | CA2634278653 | RFWD3 | c.1209dup (p.Thr404TyrfsTer?) c.375dup (p.Thr126TyrfsTer?) | gnomAD v4 |
| 16 | g.74636564A= | CA2232906006 | RFWD3 | c.1208T= (p.Leu403=) c.374T= (p.Leu125=) | |
| 16 | g.74636564A>C | CA396762210 | RFWD3 | c.1208T>G (p.Leu403Arg) c.374T>G (p.Leu125Arg) | dbSNP gnomAD v4 |
| 16 | g.74636564A>G | CA396762211 | RFWD3 | c.1208T>C (p.Leu403Pro) c.374T>C (p.Leu125Pro) | |
| 16 | g.74636564A>T | CA396762212 | RFWD3 | c.1208T>A (p.Leu403His) c.374T>A (p.Leu125His) | |
| 16 | g.74636565G>A | CA396762213 | RFWD3 | c.1207C>T (p.Leu403Phe) c.373C>T (p.Leu125Phe) | |
| 16 | g.74636565G>C | CA396762214 | RFWD3 | c.1207C>G (p.Leu403Val) c.373C>G (p.Leu125Val) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.74636565G= | CA2232906007 | RFWD3 | c.1207C= (p.Leu403=) c.373C= (p.Leu125=) | |
| 16 | g.74636565G>T | CA283745948 | RFWD3 | c.1207C>A (p.Leu403Ile) c.373C>A (p.Leu125Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.74636566T>A | CA396762215 | RFWD3 | c.1206A>T (p.Lys402Asn) c.372A>T (p.Lys124Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.74636566T>C | CA496543509 | RFWD3 | c.1206A>G (p.Lys402=) c.372A>G (p.Lys124=) | gnomAD v4 |
| 16 | g.74636566T>G | CA396762216 | RFWD3 | c.1206A>C (p.Lys402Asn) c.372A>C (p.Lys124Asn) | |
| 16 | g.74636566T= | CA2232906008 | RFWD3 | c.1206A= (p.Lys402=) c.372A= (p.Lys124=) | |
| 16 | g.74636570del | CA496543512 | RFWD3 | c.1206del (p.Lys402AsnfsTer21) c.372del (p.Lys124AsnfsTer21) | |
| 16 | g.74636567T>A | CA396762217 | RFWD3 | c.1205A>T (p.Lys402Ile) c.371A>T (p.Lys124Ile) | dbSNP |
| 16 | g.74636567T>C | CA396762218 | RFWD3 | c.1205A>G (p.Lys402Arg) c.371A>G (p.Lys124Arg) | |
| 16 | g.74636567T>G | CA396762219 | RFWD3 | c.1205A>C (p.Lys402Thr) c.371A>C (p.Lys124Thr) | |
| 16 | g.74636567T= | CA2232906009 | RFWD3 | c.1205A= (p.Lys402=) c.371A= (p.Lys124=) | |
| 16 | g.74636568T>A | CA396762220 | RFWD3 | c.1204A>T (p.Lys402Ter) c.370A>T (p.Lys124Ter) | |
| 16 | g.74636568T>C | CA396762221 | RFWD3 | c.1204A>G (p.Lys402Glu) c.370A>G (p.Lys124Glu) | |
| 16 | g.74636568T>G | CA396762222 | RFWD3 | c.1204A>C (p.Lys402Gln) c.370A>C (p.Lys124Gln) | dbSNP |
| 16 | g.74636568T= | CA2232906010 | RFWD3 | c.1204A= (p.Lys402=) c.370A= (p.Lys124=) | |
| 16 | g.74636569T>A | CA396762223 | RFWD3 | c.1203A>T (p.Gln401His) c.369A>T (p.Gln123His) | |
| 16 | g.74636569T>C | CA496543523 | RFWD3 | c.1203A>G (p.Gln401=) c.369A>G (p.Gln123=) | gnomAD v4 |
| 16 | g.74636569T>G | CA396762224 | RFWD3 | c.1203A>C (p.Gln401His) c.369A>C (p.Gln123His) | |
| 16 | g.74636570T>A | CA396762227 | RFWD3 | c.1202A>T (p.Gln401Leu) c.368A>T (p.Gln123Leu) | |
| 16 | g.74636570T>C | CA396762226 | RFWD3 | c.1202A>G (p.Gln401Arg) c.368A>G (p.Gln123Arg) | |
| 16 | g.74636570T>G | CA396762225 | RFWD3 | c.1202A>C (p.Gln401Pro) c.368A>C (p.Gln123Pro) | |
| 16 | g.74636571G>A | CA396762228 | RFWD3 | c.1201C>T (p.Gln401Ter) c.367C>T (p.Gln123Ter) | gnomAD v4 |
| 16 | g.74636571G>C | CA396762229 | RFWD3 | c.1201C>G (p.Gln401Glu) c.367C>G (p.Gln123Glu) | dbSNP gnomAD v4 |
| 16 | g.74636571G= | CA2232906011 | RFWD3 | c.1201C= (p.Gln401=) c.367C= (p.Gln123=) | |
| 16 | g.74636571G>T | CA396762230 | RFWD3 | c.1201C>A (p.Gln401Lys) c.367C>A (p.Gln123Lys) | |
| 16 | g.74636572C>A | CA396762231 | RFWD3 | c.1200G>T (p.Leu400Phe) c.366G>T (p.Leu122Phe) |