UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.104057162G>A | CA471337978 | COL17A1 | c.1278C>T (p.Ser426=) c.1230C>T (p.Ser410=) | |
| 10 | g.104057162G>C | CA378073277 | COL17A1 | c.1278C>G (p.Ser426Arg) c.1230C>G (p.Ser410Arg) | |
| 10 | g.104057162G>T | CA378073279 | COL17A1 | c.1278C>A (p.Ser426Arg) c.1230C>A (p.Ser410Arg) | |
| 10 | g.104057163C>A | CA378073281 | COL17A1 | c.1277G>T (p.Ser426Ile) c.1229G>T (p.Ser410Ile) | |
| 10 | g.104057163C>G | CA378073283 | COL17A1 | c.1277G>C (p.Ser426Thr) c.1229G>C (p.Ser410Thr) | |
| 10 | g.104057163C>T | CA378073285 | COL17A1 | c.1277G>A (p.Ser426Asn) c.1229G>A (p.Ser410Asn) | |
| 10 | g.104057164T>A | CA378073286 | COL17A1 | c.1276A>T (p.Ser426Cys) c.1228A>T (p.Ser410Cys) | |
| 10 | g.104057164T>C | CA378073288 | COL17A1 | c.1276A>G (p.Ser426Gly) c.1228A>G (p.Ser410Gly) | gnomAD v4 |
| 10 | g.104057164T>G | CA378073290 | COL17A1 | c.1276A>C (p.Ser426Arg) c.1228A>C (p.Ser410Arg) | |
| 10 | g.104057165G>A | CA471337979 | COL17A1 | c.1275C>T (p.His425=) c.1227C>T (p.His409=) | |
| 10 | g.104057165G>C | CA378073291 | COL17A1 | c.1275C>G (p.His425Gln) c.1227C>G (p.His409Gln) | |
| 10 | g.104057165G>T | CA378073293 | COL17A1 | c.1275C>A (p.His425Gln) c.1227C>A (p.His409Gln) | |
| 10 | g.104057166T>A | CA378073295 | COL17A1 | c.1274A>T (p.His425Leu) c.1226A>T (p.His409Leu) | |
| 10 | g.104057166T>C | CA5679081 | COL17A1 | c.1274A>G (p.His425Arg) c.1226A>G (p.His409Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104057166T>G | CA378073297 | COL17A1 | c.1274A>C (p.His425Pro) c.1226A>C (p.His409Pro) | gnomAD v4 |
| 10 | g.104057166T= | CA1933408814 | COL17A1 | c.1274A= (p.His425=) c.1226A= (p.His409=) | |
| 10 | g.104057167G>A | CA378073300 | COL17A1 | c.1273C>T (p.His425Tyr) c.1225C>T (p.His409Tyr) | |
| 10 | g.104057167G>C | CA378073301 | COL17A1 | c.1273C>G (p.His425Asp) c.1225C>G (p.His409Asp) | |
| 10 | g.104057167G>T | CA378073303 | COL17A1 | c.1273C>A (p.His425Asn) c.1225C>A (p.His409Asn) | |
| 10 | g.104057168G>A | CA212420994 | COL17A1 | c.1272C>T (p.Ile424=) c.1224C>T (p.Ile408=) | dbSNP gnomAD v4 |
| 10 | g.104057168G>C | CA378073304 | COL17A1 | c.1272C>G (p.Ile424Met) c.1224C>G (p.Ile408Met) | dbSNP gnomAD v4 |
| 10 | g.104057168G= | CA1933408830 | COL17A1 | c.1272C= (p.Ile424=) c.1224C= (p.Ile408=) | |
| 10 | g.104057168G>T | CA471337980 | COL17A1 | c.1272C>A (p.Ile424=) c.1224C>A (p.Ile408=) | gnomAD v4 |
| 10 | g.104057169A= | CA1933408836 | COL17A1 | c.1271T= (p.Ile424=) c.1223T= (p.Ile408=) | |
| 10 | g.104057169A>C | CA378073307 | COL17A1 | c.1271T>G (p.Ile424Ser) c.1223T>G (p.Ile408Ser) | gnomAD v4 |
| 10 | g.104057169A>G | CA378073309 | COL17A1 | c.1271T>C (p.Ile424Thr) c.1223T>C (p.Ile408Thr) | |
| 10 | g.104057169A>T | CA378073310 | COL17A1 | c.1271T>A (p.Ile424Asn) c.1223T>A (p.Ile408Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104057170T>A | CA378073313 | COL17A1 | c.1270A>T (p.Ile424Phe) c.1222A>T (p.Ile408Phe) | |
| 10 | g.104057170T>C | CA378073315 | COL17A1 | c.1270A>G (p.Ile424Val) c.1222A>G (p.Ile408Val) | |
| 10 | g.104057170T>G | CA378073316 | COL17A1 | c.1270A>C (p.Ile424Leu) c.1222A>C (p.Ile408Leu) | |
| 10 | g.104057171A>C | CA378073317 | COL17A1 | c.1269T>G (p.Asp423Glu) c.1221T>G (p.Asp407Glu) | |
| 10 | g.104057171A>G | CA471337981 | COL17A1 | c.1269T>C (p.Asp423=) c.1221T>C (p.Asp407=) | |
| 10 | g.104057171A>T | CA378073319 | COL17A1 | c.1269T>A (p.Asp423Glu) c.1221T>A (p.Asp407Glu) | |
| 10 | g.104057172T>A | CA378073321 | COL17A1 | c.1268A>T (p.Asp423Val) c.1220A>T (p.Asp407Val) | |
| 10 | g.104057172T>C | CA378073323 | COL17A1 | c.1268A>G (p.Asp423Gly) c.1220A>G (p.Asp407Gly) | |
| 10 | g.104057172T>G | CA378073325 | COL17A1 | c.1268A>C (p.Asp423Ala) c.1220A>C (p.Asp407Ala) | |
| 10 | g.104057173C>A | CA212421018 | COL17A1 | c.1268-1G>T (n.1268-1G>T) c.1220-1G>T (n.1220-1G>T) | dbSNP |
| 10 | g.104057173C= | CA1933408841 | COL17A1 | c.1268-1G= (n.1268-1G=) c.1220-1G= (n.1220-1G=) | |
| 10 | g.104057173C>G | CA378073328 | COL17A1 | c.1268-1G>C (n.1268-1G>C) c.1220-1G>C (n.1220-1G>C) | |
| 10 | g.104057173C>T | CA378073329 | COL17A1 | c.1268-1G>A (n.1268-1G>A) c.1220-1G>A (n.1220-1G>A) | |
| 10 | g.104057174T>A | CA378073330 | COL17A1 | c.1268-2A>T (n.1268-2A>T) c.1220-2A>T (n.1220-2A>T) | |
| 10 | g.104057174T>C | CA378073332 | COL17A1 | c.1268-2A>G (n.1268-2A>G) c.1220-2A>G (n.1220-2A>G) | |
| 10 | g.104057174T>G | CA378073334 | COL17A1 | c.1268-2A>C (n.1268-2A>C) c.1220-2A>C (n.1220-2A>C) | |
| 10 | g.104057175G>A | CA212421033 | COL17A1 | c.1268-3C>T (n.1268-3C>T) c.1220-3C>T (n.1220-3C>T) | dbSNP gnomAD v4 |
| 10 | g.104057175G= | CA1933408844 | COL17A1 | c.1268-3C= (n.1268-3C=) c.1220-3C= (n.1220-3C=) | |
| 10 | g.104057177G>A | CA645568173 | COL17A1 | c.1268-5C>T (n.1268-5C>T) c.1220-5C>T (n.1220-5C>T) | COSMIC |
| 10 | g.104057179_104057180del | CA2789321330 | COL17A1 | c.1268-7_1268-6del (n.1268-7_1268-6del) c.1220-7_1220-6del (n.1220-7_1220-6del) | |
| 10 | g.104057180A>G | CA2610801157 | COL17A1 | c.1268-8T>C (n.1268-8T>C) c.1220-8T>C (n.1220-8T>C) | gnomAD v4 |
| 10 | g.104057181G>C | CA2610801159 | COL17A1 | c.1268-9C>G (n.1268-9C>G) c.1220-9C>G (n.1220-9C>G) | ClinVar gnomAD v4 |
| 10 | g.104057182A>G | CA2574666604 | COL17A1 | c.1268-10T>C (n.1268-10T>C) c.1220-10T>C (n.1220-10T>C) |