| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154965979_154965980del | CA2695237286 | F8 | c.1437_1438del (p.Leu480ValfsTer5) c.*1313_*1314del (n.*1313_*1314del) n.257_258del c.1332_1333del (p.Leu445ValfsTer5) | |
| X | g.154965977G>A | CA414914283 | F8 | c.1436C>T (p.Thr479Ile) c.*1312C>T (n.*1312C>T) n.256C>T c.1331C>T (p.Thr444Ile) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154965977G>C | CA414914286 | F8 | c.1436C>G (p.Thr479Arg) c.*1312C>G (n.*1312C>G) n.256C>G c.1331C>G (p.Thr444Arg) | |
| X | g.154965977G= | CA2466847919 | F8 | c.1436C= (p.Thr479=) c.*1312C= (n.*1312C=) n.256C= c.1331C= (p.Thr444=) | |
| X | g.154965977G>T | CA10568464 | F8 | c.1436C>A (p.Thr479Lys) c.*1312C>A (n.*1312C>A) n.256C>A c.1331C>A (p.Thr444Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154965978T>A | CA414914296 | F8 | c.1435A>T (p.Thr479Ser) c.*1311A>T (n.*1311A>T) n.255A>T c.1330A>T (p.Thr444Ser) | |
| X | g.154965978T>C | CA414914293 | F8 | c.1435A>G (p.Thr479Ala) c.*1311A>G (n.*1311A>G) n.255A>G c.1330A>G (p.Thr444Ala) | |
| X | g.154965978T>G | CA414914290 | F8 | c.1435A>C (p.Thr479Pro) c.*1311A>C (n.*1311A>C) n.255A>C c.1330A>C (p.Thr444Pro) | |
| X | g.154965979G>A | CA519363213 | F8 | c.1434C>T (p.Asp478=) c.*1310C>T (n.*1310C>T) n.254C>T c.1329C>T (p.Asp443=) | |
| X | g.154965979G>C | CA414914302 | F8 | c.1434C>G (p.Asp478Glu) c.*1310C>G (n.*1310C>G) n.254C>G c.1329C>G (p.Asp443Glu) | |
| X | g.154965979G>T | CA414914305 | F8 | c.1434C>A (p.Asp478Glu) c.*1310C>A (n.*1310C>A) n.254C>A c.1329C>A (p.Asp443Glu) | |
| X | g.154965980T>A | CA414914309 | F8 | c.1433A>T (p.Asp478Val) c.*1309A>T (n.*1309A>T) n.253A>T c.1328A>T (p.Asp443Val) | |
| X | g.154965980T>C | CA414914314 | F8 | c.1433A>G (p.Asp478Gly) c.*1309A>G (n.*1309A>G) n.253A>G c.1328A>G (p.Asp443Gly) | dbSNP |
| X | g.154965980T>G | CA414914312 | F8 | c.1433A>C (p.Asp478Ala) c.*1309A>C (n.*1309A>C) n.253A>C c.1328A>C (p.Asp443Ala) | |
| X | g.154965980T= | CA2466847920 | F8 | c.1433A= (p.Asp478=) c.*1309A= (n.*1309A=) n.253A= c.1328A= (p.Asp443=) | |
| 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=) |