| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.64772838_64772868del | CA2697553946 | SPTB | c.5267_5297del (p.Arg1756ProfsTer10) c.1262_1292del (p.Arg421ProfsTer10) | ClinVar |
| 14 | g.64772867G>A | CA210954 | SPTB | c.5266C>T (p.Arg1756Ter) c.1261C>T (p.Arg421Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.64772867G>C | CA390041297 | SPTB | c.5266C>G (p.Arg1756Gly) c.1261C>G (p.Arg421Gly) | |
| 14 | g.64772867G= | CA2142804279 | SPTB | c.5266C= (p.Arg1756=) c.1261C= (p.Arg421=) | |
| 14 | g.64772867G>T | CA486968100 | SPTB | c.5266C>A (p.Arg1756=) c.1261C>A (p.Arg421=) | |
| 14 | g.64772868C>A | CA390041298 | SPTB | c.5265G>T (p.Glu1755Asp) c.1260G>T (p.Glu420Asp) | |
| 14 | g.64772868C= | CA2142804286 | SPTB | c.5265G= (p.Glu1755=) c.1260G= (p.Glu420=) | |
| 14 | g.64772868C>G | CA390041299 | SPTB | c.5265G>C (p.Glu1755Asp) c.1260G>C (p.Glu420Asp) | |
| 14 | g.64772868C>T | CA7230012 | SPTB | c.5265G>A (p.Glu1755=) c.1260G>A (p.Glu420=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772869T>A | CA390041300 | SPTB | c.5264A>T (p.Glu1755Val) c.1259A>T (p.Glu420Val) | |
| 14 | g.64772869T>C | CA390041301 | SPTB | c.5264A>G (p.Glu1755Gly) c.1259A>G (p.Glu420Gly) | gnomAD v4 |
| 14 | g.64772869T>G | CA390041302 | SPTB | c.5264A>C (p.Glu1755Ala) c.1259A>C (p.Glu420Ala) | |
| 14 | g.64772870C>A | CA390041303 | SPTB | c.5263G>T (p.Glu1755Ter) c.1258G>T (p.Glu420Ter) | |
| 14 | g.64772870C= | CA2142804295 | SPTB | c.5263G= (p.Glu1755=) c.1258G= (p.Glu420=) | |
| 14 | g.64772870C>G | CA390041304 | SPTB | c.5263G>C (p.Glu1755Gln) c.1258G>C (p.Glu420Gln) | |
| 14 | g.64772870C>T | CA262689334 | SPTB | c.5263G>A (p.Glu1755Lys) c.1258G>A (p.Glu420Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.64772871G>A | CA262689342 | SPTB | c.5262C>T (p.Ile1754=) c.1257C>T (p.Ile419=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772871G>C | CA390041305 | SPTB | c.5262C>G (p.Ile1754Met) c.1257C>G (p.Ile419Met) | gnomAD v4 |
| 14 | g.64772871G= | CA2142804305 | SPTB | c.5262C= (p.Ile1754=) c.1257C= (p.Ile419=) | |
| 14 | g.64772871G>T | CA486968111 | SPTB | c.5262C>A (p.Ile1754=) c.1257C>A (p.Ile419=) | COSMIC COSMIC |
| 14 | g.64772872A>C | CA390041307 | SPTB | c.5261T>G (p.Ile1754Ser) c.1256T>G (p.Ile419Ser) | |
| 14 | g.64772872A>G | CA390041308 | SPTB | c.5261T>C (p.Ile1754Thr) c.1256T>C (p.Ile419Thr) | |
| 14 | g.64772872A>T | CA390041306 | SPTB | c.5261T>A (p.Ile1754Asn) c.1256T>A (p.Ile419Asn) | |
| 14 | g.64772873T>A | CA390041309 | SPTB | c.5260A>T (p.Ile1754Phe) c.1255A>T (p.Ile419Phe) | |
| 14 | g.64772873T>C | CA7230013 | SPTB | c.5260A>G (p.Ile1754Val) c.1255A>G (p.Ile419Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772873T>G | CA390041310 | SPTB | c.5260A>C (p.Ile1754Leu) c.1255A>C (p.Ile419Leu) | |
| 14 | g.64772873T= | CA2142804311 | SPTB | c.5260A= (p.Ile1754=) c.1255A= (p.Ile419=) | |
| 14 | g.64772874G>A | CA486968123 | SPTB | c.5259C>T (p.Phe1753=) c.1254C>T (p.Phe418=) | |
| 14 | g.64772874G>C | CA390041311 | SPTB | c.5259C>G (p.Phe1753Leu) c.1254C>G (p.Phe418Leu) | |
| 14 | g.64772874G>T | CA390041312 | SPTB | c.5259C>A (p.Phe1753Leu) c.1254C>A (p.Phe418Leu) | gnomAD v4 COSMIC COSMIC |
| 14 | g.64772875A>C | CA390041313 | SPTB | c.5258T>G (p.Phe1753Cys) c.1253T>G (p.Phe418Cys) | |
| 14 | g.64772875A>G | CA390041314 | SPTB | c.5258T>C (p.Phe1753Ser) c.1253T>C (p.Phe418Ser) | |
| 14 | g.64772875A>T | CA390041315 | SPTB | c.5258T>A (p.Phe1753Tyr) c.1253T>A (p.Phe418Tyr) | |
| 14 | g.64772876A>C | CA390041316 | SPTB | c.5257T>G (p.Phe1753Val) c.1252T>G (p.Phe418Val) | |
| 14 | g.64772876A>G | CA390041317 | SPTB | c.5257T>C (p.Phe1753Leu) c.1252T>C (p.Phe418Leu) | COSMIC COSMIC |
| 14 | g.64772876A>T | CA390041318 | SPTB | c.5257T>A (p.Phe1753Ile) c.1252T>A (p.Phe418Ile) | |
| 14 | g.64772877G>A | CA486968135 | SPTB | c.5256C>T (p.Ala1752=) c.1251C>T (p.Ala417=) | |
| 14 | g.64772877G>C | CA486968137 | SPTB | c.5256C>G (p.Ala1752=) c.1251C>G (p.Ala417=) | |
| 14 | g.64772877G>T | CA486968139 | SPTB | c.5256C>A (p.Ala1752=) c.1251C>A (p.Ala417=) | |
| 14 | g.64772878G>A | CA262689358 | SPTB | c.5255C>T (p.Ala1752Val) c.1250C>T (p.Ala417Val) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.64772878G>C | CA7230014 | SPTB | c.5255C>G (p.Ala1752Gly) c.1250C>G (p.Ala417Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772878G= | CA2142804319 | SPTB | c.5255C= (p.Ala1752=) c.1250C= (p.Ala417=) | |
| 14 | g.64772878G>T | CA262689368 | SPTB | c.5255C>A (p.Ala1752Asp) c.1250C>A (p.Ala417Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772879C>A | CA390041319 | SPTB | c.5254G>T (p.Ala1752Ser) c.1249G>T (p.Ala417Ser) | |
| 14 | g.64772879C>G | CA390041320 | SPTB | c.5254G>C (p.Ala1752Pro) c.1249G>C (p.Ala417Pro) | |
| 14 | g.64772879C>T | CA390041321 | SPTB | c.5254G>A (p.Ala1752Thr) c.1249G>A (p.Ala417Thr) | gnomAD v4 |
| 14 | g.64772880A= | CA2142804337 | SPTB | c.5253T= (p.Asn1751=) c.1248T= (p.Asn416=) | |
| 14 | g.64772880A>C | CA390041322 | SPTB | c.5253T>G (p.Asn1751Lys) c.1248T>G (p.Asn416Lys) | |
| 14 | g.64772880A>G | CA486968144 | SPTB | c.5253T>C (p.Asn1751=) c.1248T>C (p.Asn416=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64772880A>T | CA390041323 | SPTB | c.5253T>A (p.Asn1751Lys) c.1248T>A (p.Asn416Lys) |