| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154945136_154948644dup | CA2580612538 | F8 | c.1904-736_2113+2563dup c.*1779+5249_*1779+8757dup (n.*1779+5249_*1779+8757dup) c.1799-736_2008+2563dup | ClinVar |
| X | g.154947751_154947754del | CA2695237203 | F8 | c.2060_2063del (p.Leu687ProfsTer?) c.*1779+6141_*1779+6144del (n.*1779+6141_*1779+6144del) c.1955_1958del (p.Leu652ProfsTer?) | |
| X | g.154947756_154947757del | CA873350209 | F8 | c.2058_2059del (p.Leu687HisfsTer?) c.*1779+6139_*1779+6140del (n.*1779+6139_*1779+6140del) c.1953_1954del (p.Leu652HisfsTer?) | dbSNP |
| X | g.154947754G>A | CA414909200 | F8 | c.2057C>T (p.Thr686Ile) c.*1779+6138C>T (n.*1779+6138C>T) c.1952C>T (p.Thr651Ile) | |
| X | g.154947754G>C | CA414909202 | F8 | c.2057C>G (p.Thr686Arg) c.*1779+6138C>G (n.*1779+6138C>G) c.1952C>G (p.Thr651Arg) | |
| X | g.154947754G>T | CA414909203 | F8 | c.2057C>A (p.Thr686Lys) c.*1779+6138C>A (n.*1779+6138C>A) c.1952C>A (p.Thr651Lys) | |
| X | g.154947755T>A | CA414909204 | F8 | c.2056A>T (p.Thr686Ser) c.*1779+6137A>T (n.*1779+6137A>T) c.1951A>T (p.Thr651Ser) | |
| X | g.154947755T>C | CA414909205 | F8 | c.2056A>G (p.Thr686Ala) c.*1779+6137A>G (n.*1779+6137A>G) c.1951A>G (p.Thr651Ala) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154947755T>G | CA414909206 | F8 | c.2056A>C (p.Thr686Pro) c.*1779+6137A>C (n.*1779+6137A>C) c.1951A>C (p.Thr651Pro) | |
| X | g.154947755T= | CA2466842530 | F8 | c.2056A= (p.Thr686=) c.*1779+6137A= (n.*1779+6137A=) c.1951A= (p.Thr651=) | |
| X | g.154947756G>A | CA519356442 | F8 | c.2055C>T (p.Asp685=) c.*1779+6136C>T (n.*1779+6136C>T) c.1950C>T (p.Asp650=) | |
| X | g.154947756G>C | CA414909208 | F8 | c.2055C>G (p.Asp685Glu) c.*1779+6136C>G (n.*1779+6136C>G) c.1950C>G (p.Asp650Glu) | |
| X | g.154947756G>T | CA414909210 | F8 | c.2055C>A (p.Asp685Glu) c.*1779+6136C>A (n.*1779+6136C>A) c.1950C>A (p.Asp650Glu) | |
| X | g.154947757T>A | CA414909212 | F8 | c.2054A>T (p.Asp685Val) c.*1779+6135A>T (n.*1779+6135A>T) c.1949A>T (p.Asp650Val) | dbSNP |
| X | g.154947757T>C | CA414909213 | F8 | c.2054A>G (p.Asp685Gly) c.*1779+6135A>G (n.*1779+6135A>G) c.1949A>G (p.Asp650Gly) | dbSNP |
| X | g.154947757T>G | CA414909214 | F8 | c.2054A>C (p.Asp685Ala) c.*1779+6135A>C (n.*1779+6135A>C) c.1949A>C (p.Asp650Ala) | |
| X | g.154947757T= | CA2466842531 | F8 | c.2054A= (p.Asp685=) c.*1779+6135A= (n.*1779+6135A=) c.1949A= (p.Asp650=) | |
| X | g.154947758C>A | CA414909217 | F8 | c.2053G>T (p.Asp685Tyr) c.*1779+6134G>T (n.*1779+6134G>T) c.1948G>T (p.Asp650Tyr) | |
| X | g.154947758C= | CA2466842532 | F8 | c.2053G= (p.Asp685=) c.*1779+6134G= (n.*1779+6134G=) c.1948G= (p.Asp650=) | |
| X | g.154947758C>G | CA414909218 | F8 | c.2053G>C (p.Asp685His) c.*1779+6134G>C (n.*1779+6134G>C) c.1948G>C (p.Asp650His) | |
| X | g.154947758C>T | CA414909220 | F8 | c.2053G>A (p.Asp685Asn) c.*1779+6134G>A (n.*1779+6134G>A) c.1948G>A (p.Asp650Asn) | dbSNP |
| X | g.154947759T>A | CA414909221 | F8 | c.2052A>T (p.Glu684Asp) c.*1779+6133A>T (n.*1779+6133A>T) c.1947A>T (p.Glu649Asp) | |
| X | g.154947759T>C | CA519356451 | F8 | c.2052A>G (p.Glu684=) c.*1779+6133A>G (n.*1779+6133A>G) c.1947A>G (p.Glu649=) | |
| X | g.154947759T>G | CA414909222 | F8 | c.2052A>C (p.Glu684Asp) c.*1779+6133A>C (n.*1779+6133A>C) c.1947A>C (p.Glu649Asp) | |
| X | g.154947760T>A | CA414909224 | F8 | c.2051A>T (p.Glu684Val) c.*1779+6132A>T (n.*1779+6132A>T) c.1946A>T (p.Glu649Val) | |
| X | g.154947760T>C | CA414909226 | F8 | c.2051A>G (p.Glu684Gly) c.*1779+6132A>G (n.*1779+6132A>G) c.1946A>G (p.Glu649Gly) | |
| X | g.154947760T>G | CA414909228 | F8 | c.2051A>C (p.Glu684Ala) c.*1779+6132A>C (n.*1779+6132A>C) c.1946A>C (p.Glu649Ala) | |
| X | g.154947761C>A | CA414909229 | F8 | c.2050G>T (p.Glu684Ter) c.*1779+6131G>T (n.*1779+6131G>T) c.1945G>T (p.Glu649Ter) | |
| X | g.154947761C>G | CA414909232 | F8 | c.2050G>C (p.Glu684Gln) c.*1779+6131G>C (n.*1779+6131G>C) c.1945G>C (p.Glu649Gln) | |
| X | g.154947761C>T | CA414909230 | F8 | c.2050G>A (p.Glu684Lys) c.*1779+6131G>A (n.*1779+6131G>A) c.1945G>A (p.Glu649Lys) | |
| X | g.154947762A>C | CA414909234 | F8 | c.2049T>G (p.Tyr683Ter) c.*1779+6130T>G (n.*1779+6130T>G) c.1944T>G (p.Tyr648Ter) | gnomAD v4 |
| X | g.154947762A>G | CA519356461 | F8 | c.2049T>C (p.Tyr683=) c.*1779+6130T>C (n.*1779+6130T>C) c.1944T>C (p.Tyr648=) | COSMIC COSMIC |
| X | g.154947762A>T | CA414909235 | F8 | c.2049T>A (p.Tyr683Ter) c.*1779+6130T>A (n.*1779+6130T>A) c.1944T>A (p.Tyr648Ter) | |
| X | g.154947763T>A | CA414909237 | F8 | c.2048A>T (p.Tyr683Phe) c.*1779+6129A>T (n.*1779+6129A>T) c.1943A>T (p.Tyr648Phe) | |
| X | g.154947763T>C | CA414909238 | F8 | c.2048A>G (p.Tyr683Cys) c.*1779+6129A>G (n.*1779+6129A>G) c.1943A>G (p.Tyr648Cys) | ClinVar dbSNP gnomAD v4 |
| X | g.154947763T>G | CA414909240 | F8 | c.2048A>C (p.Tyr683Ser) c.*1779+6129A>C (n.*1779+6129A>C) c.1943A>C (p.Tyr648Ser) | |
| X | g.154947763T= | CA2466842533 | F8 | c.2048A= (p.Tyr683=) c.*1779+6129A= (n.*1779+6129A=) c.1943A= (p.Tyr648=) | |
| X | g.154947764A= | CA2466842534 | F8 | c.2047T= (p.Tyr683=) c.*1779+6128T= (n.*1779+6128T=) c.1942T= (p.Tyr648=) | |
| X | g.154947764A>C | CA414909241 | F8 | c.2047T>G (p.Tyr683Asp) c.*1779+6128T>G (n.*1779+6128T>G) c.1942T>G (p.Tyr648Asp) | |
| X | g.154947764A>G | CA414909242 | F8 | c.2047T>C (p.Tyr683His) c.*1779+6128T>C (n.*1779+6128T>C) c.1942T>C (p.Tyr648His) | |
| X | g.154947764A>T | CA414909244 | F8 | c.2047T>A (p.Tyr683Asn) c.*1779+6128T>A (n.*1779+6128T>A) c.1942T>A (p.Tyr648Asn) | dbSNP |
| X | g.154947765G>A | CA519356474 | F8 | c.2046C>T (p.Val682=) c.*1779+6127C>T (n.*1779+6127C>T) c.1941C>T (p.Val647=) | dbSNP COSMIC COSMIC |
| X | g.154947765G>C | CA519356472 | F8 | c.2046C>G (p.Val682=) c.*1779+6127C>G (n.*1779+6127C>G) c.1941C>G (p.Val647=) | gnomAD v4 |
| X | g.154947765G= | CA2466842535 | F8 | c.2046C= (p.Val682=) c.*1779+6127C= (n.*1779+6127C=) c.1941C= (p.Val647=) | |
| X | g.154947765G>T | CA519356471 | F8 | c.2046C>A (p.Val682=) c.*1779+6127C>A (n.*1779+6127C>A) c.1941C>A (p.Val647=) | |
| X | g.154947766A>C | CA414909246 | F8 | c.2045T>G (p.Val682Gly) c.*1779+6126T>G (n.*1779+6126T>G) c.1940T>G (p.Val647Gly) | |
| X | g.154947766A>G | CA414909247 | F8 | c.2045T>C (p.Val682Ala) c.*1779+6126T>C (n.*1779+6126T>C) c.1940T>C (p.Val647Ala) | ClinVar |
| X | g.154947766A>T | CA414909249 | F8 | c.2045T>A (p.Val682Asp) c.*1779+6126T>A (n.*1779+6126T>A) c.1940T>A (p.Val647Asp) | |
| X | g.154947767C>A | CA414909250 | F8 | c.2044G>T (p.Val682Phe) c.*1779+6125G>T (n.*1779+6125G>T) c.1939G>T (p.Val647Phe) | ClinVar dbSNP |
| X | g.154947767C= | CA2466842536 | F8 | c.2044G= (p.Val682=) c.*1779+6125G= (n.*1779+6125G=) c.1939G= (p.Val647=) |