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 |
|---|---|---|---|---|---|
| X | g.154965981C>A | CA414914318 | F8 | c.1432G>T (p.Asp478Tyr) c.*1308G>T (n.*1308G>T) n.252G>T c.1327G>T (p.Asp443Tyr) | |
| X | g.154965981C>G | CA414914324 | F8 | c.1432G>C (p.Asp478His) c.*1308G>C (n.*1308G>C) n.252G>C c.1327G>C (p.Asp443His) | |
| X | g.154965981C>T | CA414914321 | F8 | c.1432G>A (p.Asp478Asn) c.*1308G>A (n.*1308G>A) n.252G>A c.1327G>A (p.Asp443Asn) | |
| X | g.154965982T>A | CA519363228 | F8 | c.1431A>T (p.Gly477=) c.*1307A>T (n.*1307A>T) n.251A>T c.1326A>T (p.Gly442=) | |
| X | g.154965982T>C | CA519363230 | F8 | c.1431A>G (p.Gly477=) c.*1307A>G (n.*1307A>G) n.251A>G c.1326A>G (p.Gly442=) | |
| X | g.154965982T>G | CA519363234 | F8 | c.1431A>C (p.Gly477=) c.*1307A>C (n.*1307A>C) n.251A>C c.1326A>C (p.Gly442=) | |
| X | g.154965983C>A | CA414914327 | F8 | c.1430G>T (p.Gly477Val) c.*1306G>T (n.*1306G>T) n.250G>T c.1325G>T (p.Gly442Val) | ClinVar dbSNP |
| X | g.154965983C>G | CA414914329 | F8 | c.1430G>C (p.Gly477Ala) c.*1306G>C (n.*1306G>C) n.250G>C c.1325G>C (p.Gly442Ala) | |
| X | g.154965983C>T | CA414914331 | F8 | c.1430G>A (p.Gly477Glu) c.*1306G>A (n.*1306G>A) n.250G>A c.1325G>A (p.Gly442Glu) | |
| X | g.154965984C>A | CA414914334 | F8 | c.1429G>T (p.Gly477Ter) c.*1305G>T (n.*1305G>T) n.249G>T c.1324G>T (p.Gly442Ter) | |
| X | g.154965984C>G | CA414914336 | F8 | c.1429G>C (p.Gly477Arg) c.*1305G>C (n.*1305G>C) n.249G>C c.1324G>C (p.Gly442Arg) | |
| X | g.154965984C>T | CA414914338 | F8 | c.1429G>A (p.Gly477Arg) c.*1305G>A (n.*1305G>A) n.249G>A c.1324G>A (p.Gly442Arg) | |
| X | g.154965985A>C | CA519363248 | F8 | c.1428T>G (p.Val476=) c.*1304T>G (n.*1304T>G) n.248T>G c.1323T>G (p.Val441=) | |
| X | g.154965985A>G | CA519363250 | F8 | c.1428T>C (p.Val476=) c.*1304T>C (n.*1304T>C) n.248T>C c.1323T>C (p.Val441=) | |
| X | g.154965985A>T | CA519363254 | F8 | c.1428T>A (p.Val476=) c.*1304T>A (n.*1304T>A) n.248T>A c.1323T>A (p.Val441=) | |
| X | g.154965986A>C | CA414914340 | F8 | c.1427T>G (p.Val476Gly) c.*1303T>G (n.*1303T>G) n.247T>G c.1322T>G (p.Val441Gly) | |
| X | g.154965986A>G | CA414914343 | F8 | c.1427T>C (p.Val476Ala) c.*1303T>C (n.*1303T>C) n.247T>C c.1322T>C (p.Val441Ala) | |
| X | g.154965986A>T | CA414914345 | F8 | c.1427T>A (p.Val476Asp) c.*1303T>A (n.*1303T>A) n.247T>A c.1322T>A (p.Val441Asp) | |
| X | g.154965987C>A | CA414914354 | F8 | c.1426G>T (p.Val476Phe) c.*1302G>T (n.*1302G>T) n.246G>T c.1321G>T (p.Val441Phe) | |
| X | g.154965987C>G | CA414914352 | F8 | c.1426G>C (p.Val476Leu) c.*1302G>C (n.*1302G>C) n.246G>C c.1321G>C (p.Val441Leu) | |
| X | g.154965987C>T | CA414914350 | F8 | c.1426G>A (p.Val476Ile) c.*1302G>A (n.*1302G>A) n.246G>A c.1321G>A (p.Val441Ile) | |
| X | g.154965988T>A | CA414914355 | F8 | c.1425A>T (p.Glu475Asp) c.*1301A>T (n.*1301A>T) n.245A>T c.1320A>T (p.Glu440Asp) | |
| X | g.154965988T>C | CA519363267 | F8 | c.1425A>G (p.Glu475=) c.*1301A>G (n.*1301A>G) n.245A>G c.1320A>G (p.Glu440=) | |
| X | g.154965988T>G | CA414914357 | F8 | c.1425A>C (p.Glu475Asp) c.*1301A>C (n.*1301A>C) n.245A>C c.1320A>C (p.Glu440Asp) | |
| X | g.154965989T>A | CA414914360 | F8 | c.1424A>T (p.Glu475Val) c.*1300A>T (n.*1300A>T) n.244A>T c.1319A>T (p.Glu440Val) | |
| X | g.154965989T>C | CA414914362 | F8 | c.1424A>G (p.Glu475Gly) c.*1300A>G (n.*1300A>G) n.244A>G c.1319A>G (p.Glu440Gly) | |
| X | g.154965989T>G | CA414914364 | F8 | c.1424A>C (p.Glu475Ala) c.*1300A>C (n.*1300A>C) n.244A>C c.1319A>C (p.Glu440Ala) | |
| X | g.154965990C>A | CA414914367 | F8 | c.1423G>T (p.Glu475Ter) c.*1299G>T (n.*1299G>T) n.243G>T c.1318G>T (p.Glu440Ter) | |
| X | g.154965990C= | CA2466847921 | F8 | c.1423G= (p.Glu475=) c.*1299G= (n.*1299G=) n.243G= c.1318G= (p.Glu440=) | |
| X | g.154965990C>G | CA414914371 | F8 | c.1423G>C (p.Glu475Gln) c.*1299G>C (n.*1299G>C) n.243G>C c.1318G>C (p.Glu440Gln) | dbSNP |
| X | g.154965990C>T | CA414914373 | F8 | c.1423G>A (p.Glu475Lys) c.*1299G>A (n.*1299G>A) n.243G>A c.1318G>A (p.Glu440Lys) | |
| X | g.154965993del | CA645605365 | F8 | c.1423del (p.Glu475LysfsTer7) c.*1299del (n.*1299del) n.243del c.1318del (p.Glu440LysfsTer7) | COSMIC COSMIC |
| X | g.154965991C>A | CA519363282 | F8 | c.1422G>T (p.Gly474=) c.*1298G>T (n.*1298G>T) n.242G>T c.1317G>T (p.Gly439=) | |
| X | g.154965991C>G | CA519363284 | F8 | c.1422G>C (p.Gly474=) c.*1298G>C (n.*1298G>C) n.242G>C c.1317G>C (p.Gly439=) | |
| X | g.154965991C>T | CA519363286 | F8 | c.1422G>A (p.Gly474=) c.*1298G>A (n.*1298G>A) n.242G>A c.1317G>A (p.Gly439=) | |
| X | g.154965992C>A | CA414914381 | F8 | c.1421G>T (p.Gly474Val) c.*1297G>T (n.*1297G>T) n.241G>T c.1316G>T (p.Gly439Val) | COSMIC COSMIC |
| X | g.154965992C= | CA2466847922 | F8 | c.1421G= (p.Gly474=) c.*1297G= (n.*1297G=) n.241G= c.1316G= (p.Gly439=) | |
| X | g.154965992C>G | CA414914383 | F8 | c.1421G>C (p.Gly474Ala) c.*1297G>C (n.*1297G>C) n.241G>C c.1316G>C (p.Gly439Ala) | gnomAD v4 |
| X | g.154965992C>T | CA414914388 | F8 | c.1421G>A (p.Gly474Glu) c.*1297G>A (n.*1297G>A) n.241G>A c.1316G>A (p.Gly439Glu) | dbSNP |
| X | g.154965993C>A | CA414914394 | F8 | c.1420G>T (p.Gly474Trp) c.*1296G>T (n.*1296G>T) n.240G>T c.1315G>T (p.Gly439Trp) | |
| X | g.154965993C= | CA2466847923 | F8 | c.1420G= (p.Gly474=) c.*1296G= (n.*1296G=) n.240G= c.1315G= (p.Gly439=) | |
| X | g.154965993C>G | CA414914392 | F8 | c.1420G>C (p.Gly474Arg) c.*1296G>C (n.*1296G>C) n.240G>C c.1315G>C (p.Gly439Arg) | |
| X | g.154965993C>T | CA414914390 | F8 | c.1420G>A (p.Gly474Arg) c.*1296G>A (n.*1296G>A) n.240G>A c.1315G>A (p.Gly439Arg) | dbSNP COSMIC COSMIC |
| X | g.154965994A= | CA2466847924 | F8 | c.1419T= (p.Tyr473=) c.*1295T= (n.*1295T=) n.239T= c.1314T= (p.Tyr438=) | |
| X | g.154965994A>C | CA414914398 | F8 | c.1419T>G (p.Tyr473Ter) c.*1295T>G (n.*1295T>G) n.239T>G c.1314T>G (p.Tyr438Ter) | |
| X | g.154965994A>G | CA519363299 | F8 | c.1419T>C (p.Tyr473=) c.*1295T>C (n.*1295T>C) n.239T>C c.1314T>C (p.Tyr438=) | |
| X | g.154965994A>T | CA414914396 | F8 | c.1419T>A (p.Tyr473Ter) c.*1295T>A (n.*1295T>A) n.239T>A c.1314T>A (p.Tyr438Ter) | dbSNP |
| X | g.154965994_154965999delinsATAAAG | CA2466847925 | F8 | c.1414_1419delinsCTTTAT (p.Leu472=) c.*1290_*1295delinsCTTTAT (n.*1290_*1295delinsCTTTAT) n.234_239delinsCTTTAT c.1309_1314delinsCTTTAT (p.Leu437=) | |
| X | g.154965995T>A | CA414914401 | F8 | c.1418A>T (p.Tyr473Phe) c.*1294A>T (n.*1294A>T) n.238A>T c.1313A>T (p.Tyr438Phe) | |
| X | g.154965995T>C | CA255106 | F8 | c.1418A>G (p.Tyr473Cys) c.*1294A>G (n.*1294A>G) n.238A>G c.1313A>G (p.Tyr438Cys) | ClinVar dbSNP |