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.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.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=) | |
| X | g.154947767C>G | CA414909252 | F8 | c.2044G>C (p.Val682Leu) c.*1779+6125G>C (n.*1779+6125G>C) c.1939G>C (p.Val647Leu) | |
| X | g.154947767C>T | CA414909254 | F8 | c.2044G>A (p.Val682Ile) c.*1779+6125G>A (n.*1779+6125G>A) c.1939G>A (p.Val647Ile) | gnomAD v4 |
| X | g.154947768C>A | CA414909259 | F8 | c.2043G>T (p.Met681Ile) c.*1779+6124G>T (n.*1779+6124G>T) c.1938G>T (p.Met646Ile) | |
| X | g.154947768C= | CA2466842537 | F8 | c.2043G= (p.Met681=) c.*1779+6124G= (n.*1779+6124G=) c.1938G= (p.Met646=) | |
| X | g.154947768C>G | CA414909256 | F8 | c.2043G>C (p.Met681Ile) c.*1779+6124G>C (n.*1779+6124G>C) c.1938G>C (p.Met646Ile) | ClinVar dbSNP |
| X | g.154947768C>T | CA414909257 | F8 | c.2043G>A (p.Met681Ile) c.*1779+6124G>A (n.*1779+6124G>A) c.1938G>A (p.Met646Ile) | ClinVar |
| X | g.154947768_154947771del | CA2695237205 | F8 | c.2040_2043del (p.Met681SerfsTer?) c.*1779+6121_*1779+6124del (n.*1779+6121_*1779+6124del) c.1935_1938del (p.Met646SerfsTer?) | |
| X | g.154947769A>C | CA414909261 | F8 | c.2042T>G (p.Met681Arg) c.*1779+6123T>G (n.*1779+6123T>G) c.1937T>G (p.Met646Arg) | |
| X | g.154947769A>G | CA414909262 | F8 | c.2042T>C (p.Met681Thr) c.*1779+6123T>C (n.*1779+6123T>C) c.1937T>C (p.Met646Thr) | |
| X | g.154947769A>T | CA414909264 | F8 | c.2042T>A (p.Met681Lys) c.*1779+6123T>A (n.*1779+6123T>A) c.1937T>A (p.Met646Lys) | |
| X | g.154947770T>A | CA414909265 | F8 | c.2041A>T (p.Met681Leu) c.*1779+6122A>T (n.*1779+6122A>T) c.1936A>T (p.Met646Leu) | |
| X | g.154947770T>C | CA414909267 | F8 | c.2041A>G (p.Met681Val) c.*1779+6122A>G (n.*1779+6122A>G) c.1936A>G (p.Met646Val) | |
| X | g.154947770T>G | CA414909269 | F8 | c.2041A>C (p.Met681Leu) c.*1779+6122A>C (n.*1779+6122A>C) c.1936A>C (p.Met646Leu) | |
| X | g.154947771T>A | CA414909270 | F8 | c.2040A>T (p.Lys680Asn) c.*1779+6121A>T (n.*1779+6121A>T) c.1935A>T (p.Lys645Asn) | |
| X | g.154947771T>C | CA519356508 | F8 | c.2040A>G (p.Lys680=) c.*1779+6121A>G (n.*1779+6121A>G) c.1935A>G (p.Lys645=) | |
| X | g.154947771T>G | CA414909271 | F8 | c.2040A>C (p.Lys680Asn) c.*1779+6121A>C (n.*1779+6121A>C) c.1935A>C (p.Lys645Asn) | |
| X | g.154947775_154947780del | CA2695237206 | F8 | c.2035_2040del (p.His679_Lys680del) c.*1779+6116_*1779+6121del (n.*1779+6116_*1779+6121del) c.1930_1935del (p.His644_Lys645del) | |
| X | g.154947772T>A | CA414909274 | F8 | c.2039A>T (p.Lys680Ile) c.*1779+6120A>T (n.*1779+6120A>T) c.1934A>T (p.Lys645Ile) | |
| X | g.154947772T>C | CA414909275 | F8 | c.2039A>G (p.Lys680Arg) c.*1779+6120A>G (n.*1779+6120A>G) c.1934A>G (p.Lys645Arg) | |
| X | g.154947772T>G | CA414909277 | F8 | c.2039A>C (p.Lys680Thr) c.*1779+6120A>C (n.*1779+6120A>C) c.1934A>C (p.Lys645Thr) | |
| X | g.154947773T>A | CA414909278 | F8 | c.2038A>T (p.Lys680Ter) c.*1779+6119A>T (n.*1779+6119A>T) c.1933A>T (p.Lys645Ter) | |
| X | g.154947773T>C | CA414909281 | F8 | c.2038A>G (p.Lys680Glu) c.*1779+6119A>G (n.*1779+6119A>G) c.1933A>G (p.Lys645Glu) | |
| X | g.154947773T>G | CA414909280 | F8 | c.2038A>C (p.Lys680Gln) c.*1779+6119A>C (n.*1779+6119A>C) c.1933A>C (p.Lys645Gln) | |
| X | g.154947774G>A | CA519356517 | F8 | c.2037C>T (p.His679=) c.*1779+6118C>T (n.*1779+6118C>T) c.1932C>T (p.His644=) | |
| X | g.154947774G>C | CA414909283 | F8 | c.2037C>G (p.His679Gln) c.*1779+6118C>G (n.*1779+6118C>G) c.1932C>G (p.His644Gln) | |
| X | g.154947774G>T | CA414909284 | F8 | c.2037C>A (p.His679Gln) c.*1779+6118C>A (n.*1779+6118C>A) c.1932C>A (p.His644Gln) | |
| X | g.154947775T>A | CA414909286 | F8 | c.2036A>T (p.His679Leu) c.*1779+6117A>T (n.*1779+6117A>T) c.1931A>T (p.His644Leu) | |
| X | g.154947775T>C | CA414909288 | F8 | c.2036A>G (p.His679Arg) c.*1779+6117A>G (n.*1779+6117A>G) c.1931A>G (p.His644Arg) | |
| X | g.154947775T>G | CA414909289 | F8 | c.2036A>C (p.His679Pro) c.*1779+6117A>C (n.*1779+6117A>C) c.1931A>C (p.His644Pro) | |
| X | g.154947777_154947780dup | CA2695237207 | F8 | c.2033_2036dup (p.His679GlnfsTer7) c.*1779+6114_*1779+6117dup (n.*1779+6114_*1779+6117dup) c.1928_1931dup (p.His644GlnfsTer7) | |
| X | g.154947776G>A | CA414909291 | F8 | c.2035C>T (p.His679Tyr) c.*1779+6116C>T (n.*1779+6116C>T) c.1930C>T (p.His644Tyr) | |
| X | g.154947776G>C | CA414909292 | F8 | c.2035C>G (p.His679Asp) c.*1779+6116C>G (n.*1779+6116C>G) c.1930C>G (p.His644Asp) | |
| X | g.154947776G>T | CA414909294 | F8 | c.2035C>A (p.His679Asn) c.*1779+6116C>A (n.*1779+6116C>A) c.1930C>A (p.His644Asn) | |
| X | g.154947777T>A | CA414909296 | F8 | c.2034A>T (p.Lys678Asn) c.*1779+6115A>T (n.*1779+6115A>T) c.1929A>T (p.Lys643Asn) | |
| X | g.154947777T>C | CA519356529 | F8 | c.2034A>G (p.Lys678=) c.*1779+6115A>G (n.*1779+6115A>G) c.1929A>G (p.Lys643=) | |
| X | g.154947777T>G | CA414909298 | F8 | c.2034A>C (p.Lys678Asn) c.*1779+6115A>C (n.*1779+6115A>C) c.1929A>C (p.Lys643Asn) | |
| X | g.154947778T>A | CA414909302 | F8 | c.2033A>T (p.Lys678Ile) c.*1779+6114A>T (n.*1779+6114A>T) c.1928A>T (p.Lys643Ile) | |
| X | g.154947778T>C | CA414909301 | F8 | c.2033A>G (p.Lys678Arg) c.*1779+6114A>G (n.*1779+6114A>G) c.1928A>G (p.Lys643Arg) | |
| X | g.154947778T>G | CA414909300 | F8 | c.2033A>C (p.Lys678Thr) c.*1779+6114A>C (n.*1779+6114A>C) c.1928A>C (p.Lys643Thr) | |
| X | g.154947779T>A | CA414909305 | F8 | c.2032A>T (p.Lys678Ter) c.*1779+6113A>T (n.*1779+6113A>T) c.1927A>T (p.Lys643Ter) | |
| X | g.154947779T>C | CA414909306 | F8 | c.2032A>G (p.Lys678Glu) c.*1779+6113A>G (n.*1779+6113A>G) c.1927A>G (p.Lys643Glu) | |
| X | g.154947779T>G | CA414909308 | F8 | c.2032A>C (p.Lys678Gln) c.*1779+6113A>C (n.*1779+6113A>C) c.1927A>C (p.Lys643Gln) | |
| X | g.154947780G>A | CA519356541 | F8 | c.2031C>T (p.Phe677=) c.*1779+6112C>T (n.*1779+6112C>T) c.1926C>T (p.Phe642=) | |
| X | g.154947780G>C | CA414909309 | F8 | c.2031C>G (p.Phe677Leu) c.*1779+6112C>G (n.*1779+6112C>G) c.1926C>G (p.Phe642Leu) | dbSNP |
| X | g.154947780G= | CA2466842538 | F8 | c.2031C= (p.Phe677=) c.*1779+6112C= (n.*1779+6112C=) c.1926C= (p.Phe642=) | |
| X | g.154947780G>T | CA414909311 | F8 | c.2031C>A (p.Phe677Leu) c.*1779+6112C>A (n.*1779+6112C>A) c.1926C>A (p.Phe642Leu) | dbSNP |
| X | g.154947781A>C | CA414909313 | F8 | c.2030T>G (p.Phe677Cys) c.*1779+6111T>G (n.*1779+6111T>G) c.1925T>G (p.Phe642Cys) | |
| X | g.154947781A>G | CA414909315 | F8 | c.2030T>C (p.Phe677Ser) c.*1779+6111T>C (n.*1779+6111T>C) c.1925T>C (p.Phe642Ser) | |
| X | g.154947781A>T | CA414909316 | F8 | c.2030T>A (p.Phe677Tyr) c.*1779+6111T>A (n.*1779+6111T>A) c.1925T>A (p.Phe642Tyr) | |
| X | g.154947782del | CA2695237208 | F8 | c.2030del (p.Phe677SerfsTer?) c.*1779+6111del (n.*1779+6111del) c.1925del (p.Phe642SerfsTer?) | |
| X | g.154947782A= | CA2466842539 | F8 | c.2029T= (p.Phe677=) c.*1779+6110T= (n.*1779+6110T=) c.1924T= (p.Phe642=) | |
| X | g.154947782A>C | CA414909318 | F8 | c.2029T>G (p.Phe677Val) c.*1779+6110T>G (n.*1779+6110T>G) c.1924T>G (p.Phe642Val) | |
| X | g.154947782A>G | CA255136 | F8 | c.2029T>C (p.Phe677Leu) c.*1779+6110T>C (n.*1779+6110T>C) c.1924T>C (p.Phe642Leu) | ClinVar dbSNP |
| X | g.154947782A>T | CA414909320 | F8 | c.2029T>A (p.Phe677Ile) c.*1779+6110T>A (n.*1779+6110T>A) c.1924T>A (p.Phe642Ile) | |
| X | g.154947783G>A | CA519356548 | F8 | c.2028C>T (p.Thr676=) c.*1779+6109C>T (n.*1779+6109C>T) c.1923C>T (p.Thr641=) | |
| X | g.154947783G>C | CA519356549 | F8 | c.2028C>G (p.Thr676=) c.*1779+6109C>G (n.*1779+6109C>G) c.1923C>G (p.Thr641=) | |
| X | g.154947783G>T | CA519356551 | F8 | c.2028C>A (p.Thr676=) c.*1779+6109C>A (n.*1779+6109C>A) c.1923C>A (p.Thr641=) | gnomAD v4 |
| X | g.154947784G>A | CA414909323 | F8 | c.2027C>T (p.Thr676Ile) c.*1779+6108C>T (n.*1779+6108C>T) c.1922C>T (p.Thr641Ile) | gnomAD v4 |
| X | g.154947784G>C | CA414909325 | F8 | c.2027C>G (p.Thr676Ser) c.*1779+6108C>G (n.*1779+6108C>G) c.1922C>G (p.Thr641Ser) | |
| X | g.154947784G>T | CA414909322 | F8 | c.2027C>A (p.Thr676Asn) c.*1779+6108C>A (n.*1779+6108C>A) c.1922C>A (p.Thr641Asn) | |
| X | g.154947785T>A | CA414909329 | F8 | c.2026A>T (p.Thr676Ser) c.*1779+6107A>T (n.*1779+6107A>T) c.1921A>T (p.Thr641Ser) | |
| X | g.154947785T>C | CA414909327 | F8 | c.2026A>G (p.Thr676Ala) c.*1779+6107A>G (n.*1779+6107A>G) c.1921A>G (p.Thr641Ala) | gnomAD v4 |
| X | g.154947785T>G | CA414909328 | F8 | c.2026A>C (p.Thr676Pro) c.*1779+6107A>C (n.*1779+6107A>C) c.1921A>C (p.Thr641Pro) | |
| X | g.154947786A>C | CA414909331 | F8 | c.2025T>G (p.Tyr675Ter) c.*1779+6106T>G (n.*1779+6106T>G) c.1920T>G (p.Tyr640Ter) | |
| X | g.154947786A>G | CA519356558 | F8 | c.2025T>C (p.Tyr675=) c.*1779+6106T>C (n.*1779+6106T>C) c.1920T>C (p.Tyr640=) | gnomAD v4 |
| X | g.154947786A>T | CA414909333 | F8 | c.2025T>A (p.Tyr675Ter) c.*1779+6106T>A (n.*1779+6106T>A) c.1920T>A (p.Tyr640Ter) | |
| X | g.154947787T>A | CA414909334 | F8 | c.2024A>T (p.Tyr675Phe) c.*1779+6105A>T (n.*1779+6105A>T) c.1919A>T (p.Tyr640Phe) | |
| X | g.154947787T>C | CA414909336 | F8 | c.2024A>G (p.Tyr675Cys) c.*1779+6105A>G (n.*1779+6105A>G) c.1919A>G (p.Tyr640Cys) | |
| X | g.154947787T>G | CA414909338 | F8 | c.2024A>C (p.Tyr675Ser) c.*1779+6105A>C (n.*1779+6105A>C) c.1919A>C (p.Tyr640Ser) | |
| X | g.154947788A>C | CA414909339 | F8 | c.2023T>G (p.Tyr675Asp) c.*1779+6104T>G (n.*1779+6104T>G) c.1918T>G (p.Tyr640Asp) | |
| X | g.154947788A>G | CA414909341 | F8 | c.2023T>C (p.Tyr675His) c.*1779+6104T>C (n.*1779+6104T>C) c.1918T>C (p.Tyr640His) | |
| X | g.154947788A>T | CA414909342 | F8 | c.2023T>A (p.Tyr675Asn) c.*1779+6104T>A (n.*1779+6104T>A) c.1918T>A (p.Tyr640Asn) | |
| X | g.154947789T>A | CA519356566 | F8 | c.2022A>T (p.Gly674=) c.*1779+6103A>T (n.*1779+6103A>T) c.1917A>T (p.Gly639=) | |
| X | g.154947789T>C | CA519356568 | F8 | c.2022A>G (p.Gly674=) c.*1779+6103A>G (n.*1779+6103A>G) c.1917A>G (p.Gly639=) | |
| X | g.154947789T>G | CA519356569 | F8 | c.2022A>C (p.Gly674=) c.*1779+6103A>C (n.*1779+6103A>C) c.1917A>C (p.Gly639=) | |
| X | g.154947790C>A | CA414909347 | F8 | c.2021G>T (p.Gly674Val) c.*1779+6102G>T (n.*1779+6102G>T) c.1916G>T (p.Gly639Val) | |
| X | g.154947790C>G | CA414909346 | F8 | c.2021G>C (p.Gly674Ala) c.*1779+6102G>C (n.*1779+6102G>C) c.1916G>C (p.Gly639Ala) | |
| X | g.154947790C>T | CA414909344 | F8 | c.2021G>A (p.Gly674Glu) c.*1779+6102G>A (n.*1779+6102G>A) c.1916G>A (p.Gly639Glu) | COSMIC COSMIC |
| X | g.154947791C>A | CA414909349 | F8 | c.2020G>T (p.Gly674Ter) c.*1779+6101G>T (n.*1779+6101G>T) c.1915G>T (p.Gly639Ter) | |
| X | g.154947791C= | CA2466842540 | F8 | c.2020G= (p.Gly674=) c.*1779+6101G= (n.*1779+6101G=) c.1915G= (p.Gly639=) | |
| X | g.154947791C>G | CA414909350 | F8 | c.2020G>C (p.Gly674Arg) c.*1779+6101G>C (n.*1779+6101G>C) c.1915G>C (p.Gly639Arg) | |
| X | g.154947791C>T | CA414909352 | F8 | c.2020G>A (p.Gly674Arg) c.*1779+6101G>A (n.*1779+6101G>A) c.1915G>A (p.Gly639Arg) | COSMIC COSMIC |
| X | g.154947792A>C | CA519356579 | F8 | c.2019T>G (p.Ser673=) c.*1779+6100T>G (n.*1779+6100T>G) c.1914T>G (p.Ser638=) | |
| X | g.154947792A>G | CA519356582 | F8 | c.2019T>C (p.Ser673=) c.*1779+6100T>C (n.*1779+6100T>C) c.1914T>C (p.Ser638=) | gnomAD v4 |
| X | g.154947792A>T | CA519356580 | F8 | c.2019T>A (p.Ser673=) c.*1779+6100T>A (n.*1779+6100T>A) c.1914T>A (p.Ser638=) | |
| X | g.154947792dup | CA2466842541 | F8 | c.2019dup (p.Gly674TrpfsTer11) c.*1779+6100dup (n.*1779+6100dup) c.1914dup (p.Gly639TrpfsTer11) | dbSNP |
| X | g.154947793G>A | CA414909354 | F8 | c.2018C>T (p.Ser673Phe) c.*1779+6099C>T (n.*1779+6099C>T) c.1913C>T (p.Ser638Phe) | |
| X | g.154947793G>C | CA414909356 | F8 | c.2018C>G (p.Ser673Cys) c.*1779+6099C>G (n.*1779+6099C>G) c.1913C>G (p.Ser638Cys) | |
| X | g.154947793G>T | CA414909357 | F8 | c.2018C>A (p.Ser673Tyr) c.*1779+6099C>A (n.*1779+6099C>A) c.1913C>A (p.Ser638Tyr) | |
| X | g.154947793_154947796delinsGAGA | CA2466842542 | F8 | c.2015_2018delinsTCTC (p.Phe672=) c.*1779+6096_*1779+6099delinsTCTC (n.*1779+6096_*1779+6099delinsTCTC) c.1910_1913delinsTCTC (p.Phe637=) | |
| X | g.154947794A>C | CA414909359 | F8 | c.2017T>G (p.Ser673Ala) c.*1779+6098T>G (n.*1779+6098T>G) c.1912T>G (p.Ser638Ala) | |
| X | g.154947794A>G | CA414909361 | F8 | c.2017T>C (p.Ser673Pro) c.*1779+6098T>C (n.*1779+6098T>C) c.1912T>C (p.Ser638Pro) | |
| X | g.154947794A>T | CA414909363 | F8 | c.2017T>A (p.Ser673Thr) c.*1779+6098T>A (n.*1779+6098T>A) c.1912T>A (p.Ser638Thr) | |
| X | g.154947800_154947802del | CA873350278 | F8 | c.2015_2017del (p.Phe672del) c.*1779+6096_*1779+6098del (n.*1779+6096_*1779+6098del) c.1910_1912del (p.Phe637del) | ClinVar dbSNP gnomAD v4 |
| X | g.154947795G>A | CA519356592 | F8 | c.2016C>T (p.Phe672=) c.*1779+6097C>T (n.*1779+6097C>T) c.1911C>T (p.Phe637=) | gnomAD v4 |
| X | g.154947795G>C | CA414909364 | F8 | c.2016C>G (p.Phe672Leu) c.*1779+6097C>G (n.*1779+6097C>G) c.1911C>G (p.Phe637Leu) | |
| X | g.154947795G>T | CA414909365 | F8 | c.2016C>A (p.Phe672Leu) c.*1779+6097C>A (n.*1779+6097C>A) c.1911C>A (p.Phe637Leu) | |
| X | g.154947796A>C | CA414909368 | F8 | c.2015T>G (p.Phe672Cys) c.*1779+6096T>G (n.*1779+6096T>G) c.1910T>G (p.Phe637Cys) | |
| X | g.154947796A>G | CA414909370 | F8 | c.2015T>C (p.Phe672Ser) c.*1779+6096T>C (n.*1779+6096T>C) c.1910T>C (p.Phe637Ser) | |
| X | g.154947796A>T | CA414909366 | F8 | c.2015T>A (p.Phe672Tyr) c.*1779+6096T>A (n.*1779+6096T>A) c.1910T>A (p.Phe637Tyr) | |
| X | g.154947797A= | CA2466842543 | F8 | c.2014T= (p.Phe672=) c.*1779+6095T= (n.*1779+6095T=) c.1909T= (p.Phe637=) | |
| X | g.154947797A>C | CA414909371 | F8 | c.2014T>G (p.Phe672Val) c.*1779+6095T>G (n.*1779+6095T>G) c.1909T>G (p.Phe637Val) | |
| X | g.154947797A>G | CA414909373 | F8 | c.2014T>C (p.Phe672Leu) c.*1779+6095T>C (n.*1779+6095T>C) c.1909T>C (p.Phe637Leu) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154947797A>T | CA414909375 | F8 | c.2014T>A (p.Phe672Ile) c.*1779+6095T>A (n.*1779+6095T>A) c.1909T>A (p.Phe637Ile) | |
| X | g.154947798G>A | CA519356603 | F8 | c.2013C>T (p.Phe671=) c.*1779+6094C>T (n.*1779+6094C>T) c.1908C>T (p.Phe636=) | |
| X | g.154947798G>C | CA414909376 | F8 | c.2013C>G (p.Phe671Leu) c.*1779+6094C>G (n.*1779+6094C>G) c.1908C>G (p.Phe636Leu) | |
| X | g.154947798G>T | CA414909378 | F8 | c.2013C>A (p.Phe671Leu) c.*1779+6094C>A (n.*1779+6094C>A) c.1908C>A (p.Phe636Leu) | |
| X | g.154947798dup | CA2695237209 | F8 | c.2013dup (p.Phe672LeufsTer13) c.*1779+6094dup (n.*1779+6094dup) c.1908dup (p.Phe637LeufsTer13) | |
| X | g.154947799A= | CA2466842544 | F8 | c.2012T= (p.Phe671=) c.*1779+6093T= (n.*1779+6093T=) c.1907T= (p.Phe636=) | |
| X | g.154947799A>C | CA414909379 | F8 | c.2012T>G (p.Phe671Cys) c.*1779+6093T>G (n.*1779+6093T>G) c.1907T>G (p.Phe636Cys) | |
| X | g.154947799A>G | CA414909381 | F8 | c.2012T>C (p.Phe671Ser) c.*1779+6093T>C (n.*1779+6093T>C) c.1907T>C (p.Phe636Ser) | dbSNP |
| X | g.154947799A>T | CA414909383 | F8 | c.2012T>A (p.Phe671Tyr) c.*1779+6093T>A (n.*1779+6093T>A) c.1907T>A (p.Phe636Tyr) | |
| X | g.154947800A= | CA2466842545 | F8 | c.2011T= (p.Phe671=) c.*1779+6092T= (n.*1779+6092T=) c.1906T= (p.Phe636=) | |
| X | g.154947800A>C | CA414909385 | F8 | c.2011T>G (p.Phe671Val) c.*1779+6092T>G (n.*1779+6092T>G) c.1906T>G (p.Phe636Val) | dbSNP |
| X | g.154947800A>G | CA414909386 | F8 | c.2011T>C (p.Phe671Leu) c.*1779+6092T>C (n.*1779+6092T>C) c.1906T>C (p.Phe636Leu) | |
| X | g.154947800A>T | CA414909388 | F8 | c.2011T>A (p.Phe671Ile) c.*1779+6092T>A (n.*1779+6092T>A) c.1906T>A (p.Phe636Ile) | |
| X | g.154947801G>A | CA519356618 | F8 | c.2010C>T (p.Val670=) c.*1779+6091C>T (n.*1779+6091C>T) c.1905C>T (p.Val635=) | |
| X | g.154947801G>C | CA519356616 | F8 | c.2010C>G (p.Val670=) c.*1779+6091C>G (n.*1779+6091C>G) c.1905C>G (p.Val635=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154947801G= | CA2466842546 | F8 | c.2010C= (p.Val670=) c.*1779+6091C= (n.*1779+6091C=) c.1905C= (p.Val635=) | |
| X | g.154947801G>T | CA519356614 | F8 | c.2010C>A (p.Val670=) c.*1779+6091C>A (n.*1779+6091C>A) c.1905C>A (p.Val635=) | |
| X | g.154947802A>C | CA414909392 | F8 | c.2009T>G (p.Val670Gly) c.*1779+6090T>G (n.*1779+6090T>G) c.1904T>G (p.Val635Gly) | |
| X | g.154947802A>G | CA414909393 | F8 | c.2009T>C (p.Val670Ala) c.*1779+6090T>C (n.*1779+6090T>C) c.1904T>C (p.Val635Ala) | |
| X | g.154947802A>T | CA414909390 | F8 | c.2009T>A (p.Val670Asp) c.*1779+6090T>A (n.*1779+6090T>A) c.1904T>A (p.Val635Asp) | gnomAD v4 |
| X | g.154947803C>A | CA414909395 | F8 | c.2008G>T (p.Val670Phe) c.*1779+6089G>T (n.*1779+6089G>T) c.1903G>T (p.Val635Phe) | |
| X | g.154947803C>G | CA414909397 | F8 | c.2008G>C (p.Val670Leu) c.*1779+6089G>C (n.*1779+6089G>C) c.1903G>C (p.Val635Leu) | |
| X | g.154947803C>T | CA414909398 | F8 | c.2008G>A (p.Val670Ile) c.*1779+6089G>A (n.*1779+6089G>A) c.1903G>A (p.Val635Ile) | |
| X | g.154947804A= | CA2466842547 | F8 | c.2007T= (p.Ser669=) c.*1779+6088T= (n.*1779+6088T=) c.1902T= (p.Ser634=) | |
| X | g.154947804A>C | CA10568369 | F8 | c.2007T>G (p.Ser669=) c.*1779+6088T>G (n.*1779+6088T>G) c.1902T>G (p.Ser634=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154947804A>G | CA10568370 | F8 | c.2007T>C (p.Ser669=) c.*1779+6088T>C (n.*1779+6088T>C) c.1902T>C (p.Ser634=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154947804A>T | CA519356630 | F8 | c.2007T>A (p.Ser669=) c.*1779+6088T>A (n.*1779+6088T>A) c.1902T>A (p.Ser634=) | COSMIC COSMIC |
| X | g.154947805_154947806del | CA2695237210 | F8 | c.2006_2007del (p.Ser669CysfsTer15) c.*1779+6087_*1779+6088del (n.*1779+6087_*1779+6088del) c.1901_1902del (p.Ser634CysfsTer15) | |
| X | g.154947806_154947809del | CA2695237211 | F8 | c.2004_2007del (p.Val670SerfsTer?) c.*1779+6085_*1779+6088del (n.*1779+6085_*1779+6088del) c.1899_1902del (p.Val635SerfsTer?) | |
| X | g.154947805G>A | CA414909404 | F8 | c.2006C>T (p.Ser669Phe) c.*1779+6087C>T (n.*1779+6087C>T) c.1901C>T (p.Ser634Phe) | ClinVar dbSNP |
| X | g.154947805G>C | CA414909401 | F8 | c.2006C>G (p.Ser669Cys) c.*1779+6087C>G (n.*1779+6087C>G) c.1901C>G (p.Ser634Cys) | |
| X | g.154947805G= | CA2466842548 | F8 | c.2006C= (p.Ser669=) c.*1779+6087C= (n.*1779+6087C=) c.1901C= (p.Ser634=) | |
| X | g.154947805G>T | CA414909402 | F8 | c.2006C>A (p.Ser669Tyr) c.*1779+6087C>A (n.*1779+6087C>A) c.1901C>A (p.Ser634Tyr) | |
| X | g.154947806A= | CA2466842549 | F8 | c.2005T= (p.Ser669=) c.*1779+6086T= (n.*1779+6086T=) c.1900T= (p.Ser634=) | |
| X | g.154947806A>C | CA414909405 | F8 | c.2005T>G (p.Ser669Ala) c.*1779+6086T>G (n.*1779+6086T>G) c.1900T>G (p.Ser634Ala) | |
| X | g.154947806A>G | CA414909407 | F8 | c.2005T>C (p.Ser669Pro) c.*1779+6086T>C (n.*1779+6086T>C) c.1900T>C (p.Ser634Pro) | dbSNP |
| X | g.154947806A>T | CA414909408 | F8 | c.2005T>A (p.Ser669Thr) c.*1779+6086T>A (n.*1779+6086T>A) c.1900T>A (p.Ser634Thr) | |
| X | g.154947807A>C | CA519356638 | F8 | c.2004T>G (p.Leu668=) c.*1779+6085T>G (n.*1779+6085T>G) c.1899T>G (p.Leu633=) | |
| X | g.154947807A>G | CA519356639 | F8 | c.2004T>C (p.Leu668=) c.*1779+6085T>C (n.*1779+6085T>C) c.1899T>C (p.Leu633=) | |
| X | g.154947807A>T | CA519356642 | F8 | c.2004T>A (p.Leu668=) c.*1779+6085T>A (n.*1779+6085T>A) c.1899T>A (p.Leu633=) | |
| X | g.154947808A>C | CA414909410 | F8 | c.2003T>G (p.Leu668Arg) c.*1779+6084T>G (n.*1779+6084T>G) c.1898T>G (p.Leu633Arg) | |
| X | g.154947808A>G | CA414909412 | F8 | c.2003T>C (p.Leu668Pro) c.*1779+6084T>C (n.*1779+6084T>C) c.1898T>C (p.Leu633Pro) | |
| X | g.154947808A>T | CA414909413 | F8 | c.2003T>A (p.Leu668His) c.*1779+6084T>A (n.*1779+6084T>A) c.1898T>A (p.Leu633His) | |
| X | g.154947809G>A | CA414909417 | F8 | c.2002C>T (p.Leu668Phe) c.*1779+6083C>T (n.*1779+6083C>T) c.1897C>T (p.Leu633Phe) | |
| X | g.154947809G>C | CA414909418 | F8 | c.2002C>G (p.Leu668Val) c.*1779+6083C>G (n.*1779+6083C>G) c.1897C>G (p.Leu633Val) | |
| X | g.154947809G>T | CA414909415 | F8 | c.2002C>A (p.Leu668Ile) c.*1779+6083C>A (n.*1779+6083C>A) c.1897C>A (p.Leu633Ile) | |
| X | g.154947810del | CA2695237212 | F8 | c.2002del (p.Leu668PhefsTer?) c.*1779+6083del (n.*1779+6083del) c.1897del (p.Leu633PhefsTer?) | |
| X | g.154947810G>A | CA519356649 | F8 | c.2001C>T (p.Phe667=) c.*1779+6082C>T (n.*1779+6082C>T) c.1896C>T (p.Phe632=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154947810G>C | CA414909420 | F8 | c.2001C>G (p.Phe667Leu) c.*1779+6082C>G (n.*1779+6082C>G) c.1896C>G (p.Phe632Leu) | |
| X | g.154947810G= | CA2466842550 | F8 | c.2001C= (p.Phe667=) c.*1779+6082C= (n.*1779+6082C=) c.1896C= (p.Phe632=) | |
| X | g.154947810G>T | CA414909422 | F8 | c.2001C>A (p.Phe667Leu) c.*1779+6082C>A (n.*1779+6082C>A) c.1896C>A (p.Phe632Leu) | |
| X | g.154947811A= | CA2466842551 | F8 | c.2000T= (p.Phe667=) c.*1779+6081T= (n.*1779+6081T=) c.1895T= (p.Phe632=) | |
| X | g.154947811A>C | CA414909423 | F8 | c.2000T>G (p.Phe667Cys) c.*1779+6081T>G (n.*1779+6081T>G) c.1895T>G (p.Phe632Cys) | |
| X | g.154947811A>G | CA414909426 | F8 | c.2000T>C (p.Phe667Ser) c.*1779+6081T>C (n.*1779+6081T>C) c.1895T>C (p.Phe632Ser) | |
| X | g.154947811A>T | CA414909424 | F8 | c.2000T>A (p.Phe667Tyr) c.*1779+6081T>A (n.*1779+6081T>A) c.1895T>A (p.Phe632Tyr) | |
| X | g.154947812del | CA2695237213 | F8 | c.2000del (p.Phe667SerfsTer?) c.*1779+6081del (n.*1779+6081del) c.1895del (p.Phe632SerfsTer?) | |
| X | g.154947812A= | CA2466842553 | F8 | c.1999T= (p.Phe667=) c.*1779+6080T= (n.*1779+6080T=) c.1894T= (p.Phe632=) | |
| X | g.154947812A>C | CA414909427 | F8 | c.1999T>G (p.Phe667Val) c.*1779+6080T>G (n.*1779+6080T>G) c.1894T>G (p.Phe632Val) | |
| X | g.154947812A>G | CA414909431 | F8 | c.1999T>C (p.Phe667Leu) c.*1779+6080T>C (n.*1779+6080T>C) c.1894T>C (p.Phe632Leu) | dbSNP |
| X | g.154947812A>T | CA414909429 | F8 | c.1999T>A (p.Phe667Ile) c.*1779+6080T>A (n.*1779+6080T>A) c.1894T>A (p.Phe632Ile) | |
| X | g.154947816_154947819dup | CA2466842552 | F8 | c.1996_1999dup (p.Phe667Ter) c.*1779+6077_*1779+6080dup (n.*1779+6077_*1779+6080dup) c.1891_1894dup (p.Phe632Ter) | dbSNP |
| X | g.154947816_154947819del | CA2695237214 | F8 | c.1996_1999del (p.Asp666SerfsTer?) c.*1779+6077_*1779+6080del (n.*1779+6077_*1779+6080del) c.1891_1894del (p.Asp631SerfsTer?) | |
| X | g.154947813G>A | CA10568371 | F8 | c.1998C>T (p.Asp666=) c.*1779+6079C>T (n.*1779+6079C>T) c.1893C>T (p.Asp631=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154947813G>C | CA414909432 | F8 | c.1998C>G (p.Asp666Glu) c.*1779+6079C>G (n.*1779+6079C>G) c.1893C>G (p.Asp631Glu) | |
| X | g.154947813G= | CA2466842554 | F8 | c.1998C= (p.Asp666=) c.*1779+6079C= (n.*1779+6079C=) c.1893C= (p.Asp631=) | |
| X | g.154947813G>T | CA414909435 | F8 | c.1998C>A (p.Asp666Glu) c.*1779+6079C>A (n.*1779+6079C>A) c.1893C>A (p.Asp631Glu) | |
| X | g.154947814T>A | CA414909437 | F8 | c.1997A>T (p.Asp666Val) c.*1779+6078A>T (n.*1779+6078A>T) c.1892A>T (p.Asp631Val) | |
| X | g.154947814T>C | CA414909438 | F8 | c.1997A>G (p.Asp666Gly) c.*1779+6078A>G (n.*1779+6078A>G) c.1892A>G (p.Asp631Gly) | |
| X | g.154947814T>G | CA414909439 | F8 | c.1997A>C (p.Asp666Ala) c.*1779+6078A>C (n.*1779+6078A>C) c.1892A>C (p.Asp631Ala) | gnomAD v4 |
| X | g.154947815C>A | CA414909441 | F8 | c.1996G>T (p.Asp666Tyr) c.*1779+6077G>T (n.*1779+6077G>T) c.1891G>T (p.Asp631Tyr) | |
| X | g.154947815C>G | CA414909443 | F8 | c.1996G>C (p.Asp666His) c.*1779+6077G>C (n.*1779+6077G>C) c.1891G>C (p.Asp631His) | |
| X | g.154947815C>T | CA414909445 | F8 | c.1996G>A (p.Asp666Asn) c.*1779+6077G>A (n.*1779+6077G>A) c.1891G>A (p.Asp631Asn) | |
| X | g.154947816A>C | CA519356670 | F8 | c.1995T>G (p.Thr665=) c.*1779+6076T>G (n.*1779+6076T>G) c.1890T>G (p.Thr630=) | |
| X | g.154947816A>G | CA519356672 | F8 | c.1995T>C (p.Thr665=) c.*1779+6076T>C (n.*1779+6076T>C) c.1890T>C (p.Thr630=) | |
| X | g.154947816A>T | CA519356674 | F8 | c.1995T>A (p.Thr665=) c.*1779+6076T>A (n.*1779+6076T>A) c.1890T>A (p.Thr630=) | |
| X | g.154947817G>A | CA414909446 | F8 | c.1994C>T (p.Thr665Ile) c.*1779+6075C>T (n.*1779+6075C>T) c.1889C>T (p.Thr630Ile) | |
| X | g.154947817G>C | CA414909447 | F8 | c.1994C>G (p.Thr665Ser) c.*1779+6075C>G (n.*1779+6075C>G) c.1889C>G (p.Thr630Ser) | |
| X | g.154947817G>T | CA414909449 | F8 | c.1994C>A (p.Thr665Asn) c.*1779+6075C>A (n.*1779+6075C>A) c.1889C>A (p.Thr630Asn) | |
| X | g.154947819_154947822dup | CA2695237215 | F8 | c.1991_1994dup (p.Phe667Ter) c.*1779+6072_*1779+6075dup (n.*1779+6072_*1779+6075dup) c.1886_1889dup (p.Phe632Ter) | |
| X | g.154947818T>A | CA414909454 | F8 | c.1993A>T (p.Thr665Ser) c.*1779+6074A>T (n.*1779+6074A>T) c.1888A>T (p.Thr630Ser) | |
| X | g.154947818T>C | CA414909451 | F8 | c.1993A>G (p.Thr665Ala) c.*1779+6074A>G (n.*1779+6074A>G) c.1888A>G (p.Thr630Ala) | |
| X | g.154947818T>G | CA414909453 | F8 | c.1993A>C (p.Thr665Pro) c.*1779+6074A>C (n.*1779+6074A>C) c.1888A>C (p.Thr630Pro) | |
| X | g.154947819C>A | CA414909456 | F8 | c.1992G>T (p.Gln664His) c.*1779+6073G>T (n.*1779+6073G>T) c.1887G>T (p.Gln629His) | |
| X | g.154947819C= | CA2466842555 | F8 | c.1992G= (p.Gln664=) c.*1779+6073G= (n.*1779+6073G=) c.1887G= (p.Gln629=) | |
| X | g.154947819C>G | CA414909458 | F8 | c.1992G>C (p.Gln664His) c.*1779+6073G>C (n.*1779+6073G>C) c.1887G>C (p.Gln629His) | |
| X | g.154947819C>T | CA519356681 | F8 | c.1992G>A (p.Gln664=) c.*1779+6073G>A (n.*1779+6073G>A) c.1887G>A (p.Gln629=) | dbSNP |
| X | g.154947820T>A | CA414909460 | F8 | c.1991A>T (p.Gln664Leu) c.*1779+6072A>T (n.*1779+6072A>T) c.1886A>T (p.Gln629Leu) | |
| X | g.154947820T>C | CA414909461 | F8 | c.1991A>G (p.Gln664Arg) c.*1779+6072A>G (n.*1779+6072A>G) c.1886A>G (p.Gln629Arg) | |
| X | g.154947820T>G | CA414909462 | F8 | c.1991A>C (p.Gln664Pro) c.*1779+6072A>C (n.*1779+6072A>C) c.1886A>C (p.Gln629Pro) | |
| X | g.154947822_154947823del | CA2695237216 | F8 | c.1990_1991del (p.Gln664AspfsTer2) c.*1779+6071_*1779+6072del (n.*1779+6071_*1779+6072del) c.1885_1886del (p.Gln629AspfsTer2) | |
| X | g.154947821G>A | CA414909465 | F8 | c.1990C>T (p.Gln664Ter) c.*1779+6071C>T (n.*1779+6071C>T) c.1885C>T (p.Gln629Ter) | |
| X | g.154947821G>C | CA414909467 | F8 | c.1990C>G (p.Gln664Glu) c.*1779+6071C>G (n.*1779+6071C>G) c.1885C>G (p.Gln629Glu) | |
| X | g.154947821G>T | CA414909468 | F8 | c.1990C>A (p.Gln664Lys) c.*1779+6071C>A (n.*1779+6071C>A) c.1885C>A (p.Gln629Lys) | |
| X | g.154947822T>A | CA519356682 | F8 | c.1989A>T (p.Ala663=) c.*1779+6070A>T (n.*1779+6070A>T) c.1884A>T (p.Ala628=) | |
| X | g.154947822T>C | CA519356685 | F8 | c.1989A>G (p.Ala663=) c.*1779+6070A>G (n.*1779+6070A>G) c.1884A>G (p.Ala628=) | |
| X | g.154947822T>G | CA519356683 | F8 | c.1989A>C (p.Ala663=) c.*1779+6070A>C (n.*1779+6070A>C) c.1884A>C (p.Ala628=) | |
| X | g.154947823G>A | CA255135 | F8 | c.1988C>T (p.Ala663Val) c.*1779+6069C>T (n.*1779+6069C>T) c.1883C>T (p.Ala628Val) | ClinVar dbSNP gnomAD v4 |
| X | g.154947823G>C | CA414909469 | F8 | c.1988C>G (p.Ala663Gly) c.*1779+6069C>G (n.*1779+6069C>G) c.1883C>G (p.Ala628Gly) | |
| X | g.154947823G= | CA2466842556 | F8 | c.1988C= (p.Ala663=) c.*1779+6069C= (n.*1779+6069C=) c.1883C= (p.Ala628=) | |
| X | g.154947823G>T | CA414909470 | F8 | c.1988C>A (p.Ala663Glu) c.*1779+6069C>A (n.*1779+6069C>A) c.1883C>A (p.Ala628Glu) | |
| X | g.154947824C>A | CA414909471 | F8 | c.1987G>T (p.Ala663Ser) c.*1779+6068G>T (n.*1779+6068G>T) c.1882G>T (p.Ala628Ser) | COSMIC COSMIC |
| X | g.154947824C>G | CA414909473 | F8 | c.1987G>C (p.Ala663Pro) c.*1779+6068G>C (n.*1779+6068G>C) c.1882G>C (p.Ala628Pro) | |
| X | g.154947824C>T | CA414909472 | F8 | c.1987G>A (p.Ala663Thr) c.*1779+6068G>A (n.*1779+6068G>A) c.1882G>A (p.Ala628Thr) | |
| X | g.154947825T>A | CA519356692 | F8 | c.1986A>T (p.Gly662=) c.*1779+6067A>T (n.*1779+6067A>T) c.1881A>T (p.Gly627=) | |
| X | g.154947825T>C | CA519356694 | F8 | c.1986A>G (p.Gly662=) c.*1779+6067A>G (n.*1779+6067A>G) c.1881A>G (p.Gly627=) | |
| X | g.154947825T>G | CA519356696 | F8 | c.1986A>C (p.Gly662=) c.*1779+6067A>C (n.*1779+6067A>C) c.1881A>C (p.Gly627=) | |
| X | g.154947826C>A | CA414909474 | F8 | c.1985G>T (p.Gly662Val) c.*1779+6066G>T (n.*1779+6066G>T) c.1880G>T (p.Gly627Val) | |
| X | g.154947826C>G | CA414909475 | F8 | c.1985G>C (p.Gly662Ala) c.*1779+6066G>C (n.*1779+6066G>C) c.1880G>C (p.Gly627Ala) | COSMIC COSMIC |
| X | g.154947826C>T | CA414909476 | F8 | c.1985G>A (p.Gly662Glu) c.*1779+6066G>A (n.*1779+6066G>A) c.1880G>A (p.Gly627Glu) | |
| X | g.154947827C>A | CA414909477 | F8 | c.1984G>T (p.Gly662Ter) c.*1779+6065G>T (n.*1779+6065G>T) c.1879G>T (p.Gly627Ter) | |
| X | g.154947827C>G | CA414909478 | F8 | c.1984G>C (p.Gly662Arg) c.*1779+6065G>C (n.*1779+6065G>C) c.1879G>C (p.Gly627Arg) | |
| X | g.154947827C>T | CA414909479 | F8 | c.1984G>A (p.Gly662Arg) c.*1779+6065G>A (n.*1779+6065G>A) c.1879G>A (p.Gly627Arg) | |
| X | g.154947828A>C | CA414909480 | F8 | c.1983T>G (p.Ile661Met) c.*1779+6064T>G (n.*1779+6064T>G) c.1878T>G (p.Ile626Met) | |
| X | g.154947828A>G | CA519356721 | F8 | c.1983T>C (p.Ile661=) c.*1779+6064T>C (n.*1779+6064T>C) c.1878T>C (p.Ile626=) | |
| X | g.154947828A>T | CA519356723 | F8 | c.1983T>A (p.Ile661=) c.*1779+6064T>A (n.*1779+6064T>A) c.1878T>A (p.Ile626=) | |
| X | g.154947829A>C | CA414909481 | F8 | c.1982T>G (p.Ile661Ser) c.*1779+6063T>G (n.*1779+6063T>G) c.1877T>G (p.Ile626Ser) | |
| X | g.154947829A>G | CA414909482 | F8 | c.1982T>C (p.Ile661Thr) c.*1779+6063T>C (n.*1779+6063T>C) c.1877T>C (p.Ile626Thr) | gnomAD v4 |
| X | g.154947829A>T | CA414909483 | F8 | c.1982T>A (p.Ile661Asn) c.*1779+6063T>A (n.*1779+6063T>A) c.1877T>A (p.Ile626Asn) | |
| X | g.154947830T>A | CA414909486 | F8 | c.1981A>T (p.Ile661Phe) c.*1779+6062A>T (n.*1779+6062A>T) c.1876A>T (p.Ile626Phe) | |
| X | g.154947830T>C | CA414909485 | F8 | c.1981A>G (p.Ile661Val) c.*1779+6062A>G (n.*1779+6062A>G) c.1876A>G (p.Ile626Val) | gnomAD v4 |
| X | g.154947830T>G | CA414909484 | F8 | c.1981A>C (p.Ile661Leu) c.*1779+6062A>C (n.*1779+6062A>C) c.1876A>C (p.Ile626Leu) | |
| X | g.154947831G>A | CA519356736 | F8 | c.1980C>T (p.Ser660=) c.*1779+6061C>T (n.*1779+6061C>T) c.1875C>T (p.Ser625=) | |
| X | g.154947831G>C | CA414909487 | F8 | c.1980C>G (p.Ser660Arg) c.*1779+6061C>G (n.*1779+6061C>G) c.1875C>G (p.Ser625Arg) | |
| X | g.154947831G>T | CA414909488 | F8 | c.1980C>A (p.Ser660Arg) c.*1779+6061C>A (n.*1779+6061C>A) c.1875C>A (p.Ser625Arg) | |
| X | g.154947832C>A | CA414909489 | F8 | c.1979G>T (p.Ser660Ile) c.*1779+6060G>T (n.*1779+6060G>T) c.1874G>T (p.Ser625Ile) | dbSNP |
| X | g.154947832C= | CA2466842557 | F8 | c.1979G= (p.Ser660=) c.*1779+6060G= (n.*1779+6060G=) c.1874G= (p.Ser625=) | |
| X | g.154947832C>G | CA414909490 | F8 | c.1979G>C (p.Ser660Thr) c.*1779+6060G>C (n.*1779+6060G>C) c.1874G>C (p.Ser625Thr) | |
| X | g.154947832C>T | CA414909491 | F8 | c.1979G>A (p.Ser660Asn) c.*1779+6060G>A (n.*1779+6060G>A) c.1874G>A (p.Ser625Asn) | gnomAD v4 |
| X | g.154947833_154947843del | CA2695237217 | F8 | c.1969_1979del (p.Tyr657HisfsTer6) c.*1779+6050_*1779+6060del (n.*1779+6050_*1779+6060del) c.1864_1874del (p.Tyr622HisfsTer6) | |
| X | g.154947832_154947833insACAA | CA2695237218 | F8 | c.1978_1979insTTGT (p.Ser660IlefsTer8) c.*1779+6059_*1779+6060insTTGT (n.*1779+6059_*1779+6060insTTGT) c.1873_1874insTTGT (p.Ser625IlefsTer8) | |
| X | g.154947833T>A | CA414909492 | F8 | c.1978A>T (p.Ser660Cys) c.*1779+6059A>T (n.*1779+6059A>T) c.1873A>T (p.Ser625Cys) | gnomAD v4 |
| X | g.154947833T>C | CA414909493 | F8 | c.1978A>G (p.Ser660Gly) c.*1779+6059A>G (n.*1779+6059A>G) c.1873A>G (p.Ser625Gly) | |
| X | g.154947833T>G | CA414909494 | F8 | c.1978A>C (p.Ser660Arg) c.*1779+6059A>C (n.*1779+6059A>C) c.1873A>C (p.Ser625Arg) | |
| X | g.154947834T>A | CA519356750 | F8 | c.1977A>T (p.Leu659=) c.*1779+6058A>T (n.*1779+6058A>T) c.1872A>T (p.Leu624=) | |
| X | g.154947834T>C | CA519356752 | F8 | c.1977A>G (p.Leu659=) c.*1779+6058A>G (n.*1779+6058A>G) c.1872A>G (p.Leu624=) | |
| X | g.154947834T>G | CA519356754 | F8 | c.1977A>C (p.Leu659=) c.*1779+6058A>C (n.*1779+6058A>C) c.1872A>C (p.Leu624=) | |
| X | g.154947835A>C | CA414909495 | F8 | c.1976T>G (p.Leu659Arg) c.*1779+6057T>G (n.*1779+6057T>G) c.1871T>G (p.Leu624Arg) | |
| X | g.154947835A>G | CA414909496 | F8 | c.1976T>C (p.Leu659Pro) c.*1779+6057T>C (n.*1779+6057T>C) c.1871T>C (p.Leu624Pro) | |
| X | g.154947835A>T | CA414909497 | F8 | c.1976T>A (p.Leu659Gln) c.*1779+6057T>A (n.*1779+6057T>A) c.1871T>A (p.Leu624Gln) | |
| X | g.154947835_154947836delinsAG | CA2466842558 | F8 | c.1975_1976delinsCT (p.Leu659=) c.*1779+6056_*1779+6057delinsCT (n.*1779+6056_*1779+6057delinsCT) c.1870_1871delinsCT (p.Leu624=) | |
| X | g.154947836del | CA2466842559 | F8 | c.1975del (p.Leu659Ter) c.*1779+6056del (n.*1779+6056del) c.1870del (p.Leu624Ter) | dbSNP |
| X | g.154947836G>A | CA519356769 | F8 | c.1975C>T (p.Leu659=) c.*1779+6056C>T (n.*1779+6056C>T) c.1870C>T (p.Leu624=) | |
| X | g.154947836G>C | CA10568372 | F8 | c.1975C>G (p.Leu659Val) c.*1779+6056C>G (n.*1779+6056C>G) c.1870C>G (p.Leu624Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154947836G= | CA2466842560 | F8 | c.1975C= (p.Leu659=) c.*1779+6056C= (n.*1779+6056C=) c.1870C= (p.Leu624=) | |
| X | g.154947836G>T | CA414909498 | F8 | c.1975C>A (p.Leu659Ile) c.*1779+6056C>A (n.*1779+6056C>A) c.1870C>A (p.Leu624Ile) | |
| X | g.154947837A>C | CA414909499 | F8 | c.1974T>G (p.Ile658Met) c.*1779+6055T>G (n.*1779+6055T>G) c.1869T>G (p.Ile623Met) | |
| X | g.154947837A>G | CA519356771 | F8 | c.1974T>C (p.Ile658=) c.*1779+6055T>C (n.*1779+6055T>C) c.1869T>C (p.Ile623=) | |
| X | g.154947837A>T | CA519356772 | F8 | c.1974T>A (p.Ile658=) c.*1779+6055T>A (n.*1779+6055T>A) c.1869T>A (p.Ile623=) | |
| X | g.154947838A= | CA2466842561 | F8 | c.1973T= (p.Ile658=) c.*1779+6054T= (n.*1779+6054T=) c.1868T= (p.Ile623=) | |
| X | g.154947838A>C | CA414909502 | F8 | c.1973T>G (p.Ile658Ser) c.*1779+6054T>G (n.*1779+6054T>G) c.1868T>G (p.Ile623Ser) | dbSNP |
| X | g.154947838A>G | CA414909500 | F8 | c.1973T>C (p.Ile658Thr) c.*1779+6054T>C (n.*1779+6054T>C) c.1868T>C (p.Ile623Thr) | |
| X | g.154947838A>T | CA414909501 | F8 | c.1973T>A (p.Ile658Asn) c.*1779+6054T>A (n.*1779+6054T>A) c.1868T>A (p.Ile623Asn) | |
| X | g.154947839T>A | CA414909503 | F8 | c.1972A>T (p.Ile658Phe) c.*1779+6053A>T (n.*1779+6053A>T) c.1867A>T (p.Ile623Phe) | |
| X | g.154947839T>C | CA414909504 | F8 | c.1972A>G (p.Ile658Val) c.*1779+6053A>G (n.*1779+6053A>G) c.1867A>G (p.Ile623Val) | gnomAD v4 |
| X | g.154947839T>G | CA414909505 | F8 | c.1972A>C (p.Ile658Leu) c.*1779+6053A>C (n.*1779+6053A>C) c.1867A>C (p.Ile623Leu) | gnomAD v4 |
| X | g.154947840G>A | CA519356773 | F8 | c.1971C>T (p.Tyr657=) c.*1779+6052C>T (n.*1779+6052C>T) c.1866C>T (p.Tyr622=) | |
| X | g.154947840G>C | CA414909506 | F8 | c.1971C>G (p.Tyr657Ter) c.*1779+6052C>G (n.*1779+6052C>G) c.1866C>G (p.Tyr622Ter) | |
| X | g.154947840G>T | CA414909507 | F8 | c.1971C>A (p.Tyr657Ter) c.*1779+6052C>A (n.*1779+6052C>A) c.1866C>A (p.Tyr622Ter) | |
| X | g.154947841T>A | CA414909508 | F8 | c.1970A>T (p.Tyr657Phe) c.*1779+6051A>T (n.*1779+6051A>T) c.1865A>T (p.Tyr622Phe) | |
| X | g.154947841T>C | CA414909509 | F8 | c.1970A>G (p.Tyr657Cys) c.*1779+6051A>G (n.*1779+6051A>G) c.1865A>G (p.Tyr622Cys) | dbSNP |
| X | g.154947841T>G | CA414909510 | F8 | c.1970A>C (p.Tyr657Ser) c.*1779+6051A>C (n.*1779+6051A>C) c.1865A>C (p.Tyr622Ser) | |
| X | g.154947841T= | CA2466842562 | F8 | c.1970A= (p.Tyr657=) c.*1779+6051A= (n.*1779+6051A=) c.1865A= (p.Tyr622=) | |
| X | g.154947842A>C | CA414909513 | F8 | c.1969T>G (p.Tyr657Asp) c.*1779+6050T>G (n.*1779+6050T>G) c.1864T>G (p.Tyr622Asp) | |
| X | g.154947842A>G | CA414909512 | F8 | c.1969T>C (p.Tyr657His) c.*1779+6050T>C (n.*1779+6050T>C) c.1864T>C (p.Tyr622His) | ClinVar dbSNP gnomAD v4 |
| X | g.154947842A>T | CA414909511 | F8 | c.1969T>A (p.Tyr657Asn) c.*1779+6050T>A (n.*1779+6050T>A) c.1864T>A (p.Tyr622Asn) | |
| X | g.154947843C>A | CA414909514 | F8 | c.1968G>T (p.Trp656Cys) c.*1779+6049G>T (n.*1779+6049G>T) c.1863G>T (p.Trp621Cys) | dbSNP COSMIC COSMIC |
| X | g.154947843C= | CA2466842563 | F8 | c.1968G= (p.Trp656=) c.*1779+6049G= (n.*1779+6049G=) c.1863G= (p.Trp621=) | |
| X | g.154947843C>G | CA414909516 | F8 | c.1968G>C (p.Trp656Cys) c.*1779+6049G>C (n.*1779+6049G>C) c.1863G>C (p.Trp621Cys) | |
| X | g.154947843C>T | CA414909518 | F8 | c.1968G>A (p.Trp656Ter) c.*1779+6049G>A (n.*1779+6049G>A) c.1863G>A (p.Trp621Ter) | dbSNP |
| X | g.154947844C>A | CA414909520 | F8 | c.1967G>T (p.Trp656Leu) c.*1779+6048G>T (n.*1779+6048G>T) c.1862G>T (p.Trp621Leu) | |
| X | g.154947844C= | CA2466842564 | F8 | c.1967G= (p.Trp656=) c.*1779+6048G= (n.*1779+6048G=) c.1862G= (p.Trp621=) | |
| X | g.154947844C>G | CA414909521 | F8 | c.1967G>C (p.Trp656Ser) c.*1779+6048G>C (n.*1779+6048G>C) c.1862G>C (p.Trp621Ser) | |
| X | g.154947844C>T | CA414909523 | F8 | c.1967G>A (p.Trp656Ter) c.*1779+6048G>A (n.*1779+6048G>A) c.1862G>A (p.Trp621Ter) | dbSNP |
| X | g.154947845A= | CA2466842565 | F8 | c.1966T= (p.Trp656=) c.*1779+6047T= (n.*1779+6047T=) c.1861T= (p.Trp621=) | |
| X | g.154947845A>C | CA414909525 | F8 | c.1966T>G (p.Trp656Gly) c.*1779+6047T>G (n.*1779+6047T>G) c.1861T>G (p.Trp621Gly) | |
| X | g.154947845A>G | CA414909526 | F8 | c.1966T>C (p.Trp656Arg) c.*1779+6047T>C (n.*1779+6047T>C) c.1861T>C (p.Trp621Arg) | dbSNP |
| X | g.154947845A>T | CA414909528 | F8 | c.1966T>A (p.Trp656Arg) c.*1779+6047T>A (n.*1779+6047T>A) c.1861T>A (p.Trp621Arg) | |
| X | g.154947846G>A | CA519356797 | F8 | c.1965C>T (p.Tyr655=) c.*1779+6046C>T (n.*1779+6046C>T) c.1860C>T (p.Tyr620=) | |
| X | g.154947846G>C | CA255133 | F8 | c.1965C>G (p.Tyr655Ter) c.*1779+6046C>G (n.*1779+6046C>G) c.1860C>G (p.Tyr620Ter) | ClinVar dbSNP |
| X | g.154947846G= | CA2466842566 | F8 | c.1965C= (p.Tyr655=) c.*1779+6046C= (n.*1779+6046C=) c.1860C= (p.Tyr620=) | |
| X | g.154947846G>T | CA414909529 | F8 | c.1965C>A (p.Tyr655Ter) c.*1779+6046C>A (n.*1779+6046C>A) c.1860C>A (p.Tyr620Ter) | gnomAD v4 |
| X | g.154947847T>A | CA414909535 | F8 | c.1964A>T (p.Tyr655Phe) c.*1779+6045A>T (n.*1779+6045A>T) c.1859A>T (p.Tyr620Phe) | |
| X | g.154947847T>C | CA414909533 | F8 | c.1964A>G (p.Tyr655Cys) c.*1779+6045A>G (n.*1779+6045A>G) c.1859A>G (p.Tyr620Cys) | dbSNP |
| X | g.154947847T>G | CA414909532 | F8 | c.1964A>C (p.Tyr655Ser) c.*1779+6045A>C (n.*1779+6045A>C) c.1859A>C (p.Tyr620Ser) | |
| X | g.154947847T= | CA2466842567 | F8 | c.1964A= (p.Tyr655=) c.*1779+6045A= (n.*1779+6045A=) c.1859A= (p.Tyr620=) | |
| X | g.154947848A= | CA2466842568 | F8 | c.1963T= (p.Tyr655=) c.*1779+6044T= (n.*1779+6044T=) c.1858T= (p.Tyr620=) | |
| X | g.154947848A>C | CA414909536 | F8 | c.1963T>G (p.Tyr655Asp) c.*1779+6044T>G (n.*1779+6044T>G) c.1858T>G (p.Tyr620Asp) | |
| X | g.154947848A>G | CA414909537 | F8 | c.1963T>C (p.Tyr655His) c.*1779+6044T>C (n.*1779+6044T>C) c.1858T>C (p.Tyr620His) | dbSNP |
| X | g.154947848A>T | CA414909539 | F8 | c.1963T>A (p.Tyr655Asn) c.*1779+6044T>A (n.*1779+6044T>A) c.1858T>A (p.Tyr620Asn) | |
| X | g.154947848dup | CA2695237219 | F8 | c.1963dup (p.Tyr655LeufsTer12) c.*1779+6044dup (n.*1779+6044dup) c.1858dup (p.Tyr620LeufsTer12) | |
| X | g.154947849T>A | CA519356814 | F8 | c.1962A>T (p.Ala654=) c.*1779+6043A>T (n.*1779+6043A>T) c.1857A>T (p.Ala619=) | |
| X | g.154947849T>C | CA519356817 | F8 | c.1962A>G (p.Ala654=) c.*1779+6043A>G (n.*1779+6043A>G) c.1857A>G (p.Ala619=) | |
| X | g.154947849T>G | CA519356819 | F8 | c.1962A>C (p.Ala654=) c.*1779+6043A>C (n.*1779+6043A>C) c.1857A>C (p.Ala619=) | |
| X | g.154947850G>A | CA414909540 | F8 | c.1961C>T (p.Ala654Val) c.*1779+6042C>T (n.*1779+6042C>T) c.1856C>T (p.Ala619Val) | |
| X | g.154947850G>C | CA414909542 | F8 | c.1961C>G (p.Ala654Gly) c.*1779+6042C>G (n.*1779+6042C>G) c.1856C>G (p.Ala619Gly) | |
| X | g.154947850G= | CA2466842569 | F8 | c.1961C= (p.Ala654=) c.*1779+6042C= (n.*1779+6042C=) c.1856C= (p.Ala619=) | |
| X | g.154947850G>T | CA414909543 | F8 | c.1961C>A (p.Ala654Glu) c.*1779+6042C>A (n.*1779+6042C>A) c.1856C>A (p.Ala619Glu) | dbSNP |
| X | g.154947851C>A | CA414909544 | F8 | c.1960G>T (p.Ala654Ser) c.*1779+6041G>T (n.*1779+6041G>T) c.1855G>T (p.Ala619Ser) | |
| X | g.154947851C= | CA2466842570 | F8 | c.1960G= (p.Ala654=) c.*1779+6041G= (n.*1779+6041G=) c.1855G= (p.Ala619=) | |
| X | g.154947851C>G | CA414909546 | F8 | c.1960G>C (p.Ala654Pro) c.*1779+6041G>C (n.*1779+6041G>C) c.1855G>C (p.Ala619Pro) | |
| X | g.154947851C>T | CA414909547 | F8 | c.1960G>A (p.Ala654Thr) c.*1779+6041G>A (n.*1779+6041G>A) c.1855G>A (p.Ala619Thr) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154947852C>A | CA519356831 | F8 | c.1959G>T (p.Val653=) c.*1779+6040G>T (n.*1779+6040G>T) c.1854G>T (p.Val618=) | |
| X | g.154947852C= | CA2466842571 | F8 | c.1959G= (p.Val653=) c.*1779+6040G= (n.*1779+6040G=) c.1854G= (p.Val618=) | |
| X | g.154947852C>G | CA519356832 | F8 | c.1959G>C (p.Val653=) c.*1779+6040G>C (n.*1779+6040G>C) c.1854G>C (p.Val618=) | |
| X | g.154947852C>T | CA519356835 | F8 | c.1959G>A (p.Val653=) c.*1779+6040G>A (n.*1779+6040G>A) c.1854G>A (p.Val618=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154947853A= | CA2466842572 | F8 | c.1958T= (p.Val653=) c.*1779+6039T= (n.*1779+6039T=) c.1853T= (p.Val618=) | |
| X | g.154947853A>C | CA414909549 | F8 | c.1958T>G (p.Val653Gly) c.*1779+6039T>G (n.*1779+6039T>G) c.1853T>G (p.Val618Gly) | |
| X | g.154947853A>G | CA255131 | F8 | c.1958T>C (p.Val653Ala) c.*1779+6039T>C (n.*1779+6039T>C) c.1853T>C (p.Val618Ala) | ClinVar dbSNP |
| X | g.154947853A>T | CA414909553 | F8 | c.1958T>A (p.Val653Glu) c.*1779+6039T>A (n.*1779+6039T>A) c.1853T>A (p.Val618Glu) | |
| X | g.154947854C>A | CA414909557 | F8 | c.1957G>T (p.Val653Leu) c.*1779+6038G>T (n.*1779+6038G>T) c.1852G>T (p.Val618Leu) | |
| X | g.154947854C= | CA2466842573 | F8 | c.1957G= (p.Val653=) c.*1779+6038G= (n.*1779+6038G=) c.1852G= (p.Val618=) | |
| X | g.154947854C>G | CA414909554 | F8 | c.1957G>C (p.Val653Leu) c.*1779+6038G>C (n.*1779+6038G>C) c.1852G>C (p.Val618Leu) | |
| X | g.154947854C>T | CA255132 | F8 | c.1957G>A (p.Val653Met) c.*1779+6038G>A (n.*1779+6038G>A) c.1852G>A (p.Val618Met) | ClinVar dbSNP |
| X | g.154947855C>A | CA414909559 | F8 | c.1956G>T (p.Glu652Asp) c.*1779+6037G>T (n.*1779+6037G>T) c.1851G>T (p.Glu617Asp) | |
| X | g.154947855C>G | CA414909560 | F8 | c.1956G>C (p.Glu652Asp) c.*1779+6037G>C (n.*1779+6037G>C) c.1851G>C (p.Glu617Asp) | gnomAD v4 |
| X | g.154947855C>T | CA519356854 | F8 | c.1956G>A (p.Glu652=) c.*1779+6037G>A (n.*1779+6037G>A) c.1851G>A (p.Glu617=) | |
| X | g.154947856T>A | CA414909561 | F8 | c.1955A>T (p.Glu652Val) c.*1779+6036A>T (n.*1779+6036A>T) c.1850A>T (p.Glu617Val) | |
| X | g.154947856T>C | CA414909562 | F8 | c.1955A>G (p.Glu652Gly) c.*1779+6036A>G (n.*1779+6036A>G) c.1850A>G (p.Glu617Gly) | dbSNP |
| X | g.154947856T>G | CA414909563 | F8 | c.1955A>C (p.Glu652Ala) c.*1779+6036A>C (n.*1779+6036A>C) c.1850A>C (p.Glu617Ala) | |
| X | g.154947856T= | CA2466842574 | F8 | c.1955A= (p.Glu652=) c.*1779+6036A= (n.*1779+6036A=) c.1850A= (p.Glu617=) | |
| X | g.154947857C>A | CA414909564 | F8 | c.1954G>T (p.Glu652Ter) c.*1779+6035G>T (n.*1779+6035G>T) c.1849G>T (p.Glu617Ter) | |
| X | g.154947857C>G | CA414909566 | F8 | c.1954G>C (p.Glu652Gln) c.*1779+6035G>C (n.*1779+6035G>C) c.1849G>C (p.Glu617Gln) | |
| X | g.154947857C>T | CA414909567 | F8 | c.1954G>A (p.Glu652Lys) c.*1779+6035G>A (n.*1779+6035G>A) c.1849G>A (p.Glu617Lys) | |
| X | g.154947858A>C | CA414909569 | F8 | c.1953T>G (p.His651Gln) c.*1779+6034T>G (n.*1779+6034T>G) c.1848T>G (p.His616Gln) | |
| X | g.154947858A>G | CA519356868 | F8 | c.1953T>C (p.His651=) c.*1779+6034T>C (n.*1779+6034T>C) c.1848T>C (p.His616=) | |
| X | g.154947858A>T | CA414909571 | F8 | c.1953T>A (p.His651Gln) c.*1779+6034T>A (n.*1779+6034T>A) c.1848T>A (p.His616Gln) | |
| X | g.154947859T>A | CA414909576 | F8 | c.1952A>T (p.His651Leu) c.*1779+6033A>T (n.*1779+6033A>T) c.1847A>T (p.His616Leu) | |
| X | g.154947859T>C | CA414909574 | F8 | c.1952A>G (p.His651Arg) c.*1779+6033A>G (n.*1779+6033A>G) c.1847A>G (p.His616Arg) | gnomAD v4 |
| X | g.154947859T>G | CA414909573 | F8 | c.1952A>C (p.His651Pro) c.*1779+6033A>C (n.*1779+6033A>C) c.1847A>C (p.His616Pro) | ClinVar dbSNP |
| X | g.154947859T= | CA2466842575 | F8 | c.1952A= (p.His651=) c.*1779+6033A= (n.*1779+6033A=) c.1847A= (p.His616=) |