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 |
|---|---|---|---|---|---|
| 6 | g.6174631T>A | CA362661252 | F13A1 | c.1696A>T (p.Lys566Ter) c.1858A>T (p.Lys620Ter) | |
| 6 | g.6174631T>C | CA362661254 | F13A1 | c.1696A>G (p.Lys566Glu) c.1858A>G (p.Lys620Glu) | gnomAD v4 |
| 6 | g.6174631T>G | CA362661256 | F13A1 | c.1696A>C (p.Lys566Gln) c.1858A>C (p.Lys620Gln) | |
| 6 | g.6174632C>A | CA448499258 | F13A1 | c.1695G>T (p.Pro565=) c.1857G>T (p.Pro619=) | |
| 6 | g.6174632C= | CA1607969910 | F13A1 | c.1695G= (p.Pro565=) c.1857G= (p.Pro619=) | |
| 6 | g.6174632C>G | CA448499259 | F13A1 | c.1695G>C (p.Pro565=) c.1857G>C (p.Pro619=) | |
| 6 | g.6174632C>T | CA3624278 | F13A1 | c.1695G>A (p.Pro565=) c.1857G>A (p.Pro619=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6174633G>A | CA3624279 | F13A1 | c.1694C>T (p.Pro565Leu) c.1856C>T (p.Pro619Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6174633G>C | CA362661262 | F13A1 | c.1694C>G (p.Pro565Arg) c.1856C>G (p.Pro619Arg) | |
| 6 | g.6174633G= | CA1607969911 | F13A1 | c.1694C= (p.Pro565=) c.1856C= (p.Pro619=) | |
| 6 | g.6174633G>T | CA362661264 | F13A1 | c.1694C>A (p.Pro565Gln) c.1856C>A (p.Pro619Gln) | dbSNP |
| 6 | g.6174634G>A | CA3624280 | F13A1 | c.1693C>T (p.Pro565Ser) c.1855C>T (p.Pro619Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.6174634G>C | CA3624281 | F13A1 | c.1693C>G (p.Pro565Ala) c.1855C>G (p.Pro619Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.6174634G= | CA1607969912 | F13A1 | c.1693C= (p.Pro565=) c.1855C= (p.Pro619=) | |
| 6 | g.6174634G>T | CA362661271 | F13A1 | c.1693C>A (p.Pro565Thr) c.1855C>A (p.Pro619Thr) | |
| 6 | g.6174635G>A | CA3624282 | F13A1 | c.1692C>T (p.Val564=) c.1854C>T (p.Val618=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.6174635G>C | CA448499261 | F13A1 | c.1692C>G (p.Val564=) c.1854C>G (p.Val618=) | |
| 6 | g.6174635G= | CA1607969913 | F13A1 | c.1692C= (p.Val564=) c.1854C= (p.Val618=) | |
| 6 | g.6174635G>T | CA448499260 | F13A1 | c.1692C>A (p.Val564=) c.1854C>A (p.Val618=) | |
| 6 | g.6174636A>C | CA362661281 | F13A1 | c.1691T>G (p.Val564Gly) c.1853T>G (p.Val618Gly) | gnomAD v4 |
| 6 | g.6174636A>G | CA362661276 | F13A1 | c.1691T>C (p.Val564Ala) c.1853T>C (p.Val618Ala) | |
| 6 | g.6174636A>T | CA362661279 | F13A1 | c.1691T>A (p.Val564Asp) c.1853T>A (p.Val618Asp) | |
| 6 | g.6174637C>A | CA362661284 | F13A1 | c.1690G>T (p.Val564Phe) c.1852G>T (p.Val618Phe) | |
| 6 | g.6174637C>G | CA362661286 | F13A1 | c.1690G>C (p.Val564Leu) c.1852G>C (p.Val618Leu) | |
| 6 | g.6174637C>T | CA362661288 | F13A1 | c.1690G>A (p.Val564Ile) c.1852G>A (p.Val618Ile) | gnomAD v4 |
| 6 | g.6174638C>A | CA448499262 | F13A1 | c.1689G>T (p.Gly563=) c.1851G>T (p.Gly617=) | |
| 6 | g.6174638C= | CA1607969914 | F13A1 | c.1689G= (p.Gly563=) c.1851G= (p.Gly617=) | |
| 6 | g.6174638C>G | CA448499263 | F13A1 | c.1689G>C (p.Gly563=) c.1851G>C (p.Gly617=) | |
| 6 | g.6174638C>T | CA3624283 | F13A1 | c.1689G>A (p.Gly563=) c.1851G>A (p.Gly617=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6174639C>A | CA362661292 | F13A1 | c.1688G>T (p.Gly563Val) c.1850G>T (p.Gly617Val) | |
| 6 | g.6174639C= | CA1607969915 | F13A1 | c.1688G= (p.Gly563=) c.1850G= (p.Gly617=) | |
| 6 | g.6174639C>G | CA362661294 | F13A1 | c.1688G>C (p.Gly563Ala) c.1850G>C (p.Gly617Ala) | |
| 6 | g.6174639C>T | CA3624284 | F13A1 | c.1688G>A (p.Gly563Glu) c.1850G>A (p.Gly617Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.6174639_6174640delinsAA | CA645559939 | F13A1 | c.1687_1688delinsTT (p.Gly563Leu) c.1849_1850delinsTT (p.Gly617Leu) | COSMIC |
| 6 | g.6174640C>A | CA362661298 | F13A1 | c.1687G>T (p.Gly563Trp) c.1849G>T (p.Gly617Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.6174640C= | CA1607969916 | F13A1 | c.1687G= (p.Gly563=) c.1849G= (p.Gly617=) | |
| 6 | g.6174640C>G | CA362661299 | F13A1 | c.1687G>C (p.Gly563Arg) c.1849G>C (p.Gly617Arg) | |
| 6 | g.6174640C>T | CA126627 | F13A1 | c.1687G>A (p.Gly563Arg) c.1849G>A (p.Gly617Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6174641G>A | CA3624285 | F13A1 | c.1686C>T (p.Thr562=) c.1848C>T (p.Thr616=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6174641G>C | CA448499265 | F13A1 | c.1686C>G (p.Thr562=) c.1848C>G (p.Thr616=) | |
| 6 | g.6174641G= | CA1607969917 | F13A1 | c.1686C= (p.Thr562=) c.1848C= (p.Thr616=) | |
| 6 | g.6174641G>T | CA448499264 | F13A1 | c.1686C>A (p.Thr562=) c.1848C>A (p.Thr616=) | |
| 6 | g.6174642G>A | CA362661307 | F13A1 | c.1685C>T (p.Thr562Ile) c.1847C>T (p.Thr616Ile) | |
| 6 | g.6174642G>C | CA362661309 | F13A1 | c.1685C>G (p.Thr562Ser) c.1847C>G (p.Thr616Ser) | |
| 6 | g.6174642G>T | CA362661305 | F13A1 | c.1685C>A (p.Thr562Asn) c.1847C>A (p.Thr616Asn) | gnomAD v4 COSMIC |
| 6 | g.6174643T>A | CA362661311 | F13A1 | c.1684A>T (p.Thr562Ser) c.1846A>T (p.Thr616Ser) | |
| 6 | g.6174643T>C | CA362661313 | F13A1 | c.1684A>G (p.Thr562Ala) c.1846A>G (p.Thr616Ala) | gnomAD v4 |
| 6 | g.6174643T>G | CA362661316 | F13A1 | c.1684A>C (p.Thr562Pro) c.1846A>C (p.Thr616Pro) | |
| 6 | g.6174644G>A | CA133914388 | F13A1 | c.1683C>T (p.Tyr561=) c.1845C>T (p.Tyr615=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.6174644G>C | CA362661319 | F13A1 | c.1683C>G (p.Tyr561Ter) c.1845C>G (p.Tyr615Ter) | |
| 6 | g.6174644G= | CA1607969918 | F13A1 | c.1683C= (p.Tyr561=) c.1845C= (p.Tyr615=) | |
| 6 | g.6174644G>T | CA362661321 | F13A1 | c.1683C>A (p.Tyr561Ter) c.1845C>A (p.Tyr615Ter) | |
| 6 | g.6174645T>A | CA362661324 | F13A1 | c.1682A>T (p.Tyr561Phe) c.1844A>T (p.Tyr615Phe) | |
| 6 | g.6174645T>C | CA362661325 | F13A1 | c.1682A>G (p.Tyr561Cys) c.1844A>G (p.Tyr615Cys) | |
| 6 | g.6174645T>G | CA362661328 | F13A1 | c.1682A>C (p.Tyr561Ser) c.1844A>C (p.Tyr615Ser) | |
| 6 | g.6174646A>C | CA362661332 | F13A1 | c.1681T>G (p.Tyr561Asp) c.1843T>G (p.Tyr615Asp) | |
| 6 | g.6174646A>G | CA362661334 | F13A1 | c.1681T>C (p.Tyr561His) c.1843T>C (p.Tyr615His) | |
| 6 | g.6174646A>T | CA362661336 | F13A1 | c.1681T>A (p.Tyr561Asn) c.1843T>A (p.Tyr615Asn) | |
| 6 | g.6174647G>A | CA448499266 | F13A1 | c.1680C>T (p.Phe560=) c.1842C>T (p.Phe614=) | |
| 6 | g.6174647G>C | CA362661338 | F13A1 | c.1680C>G (p.Phe560Leu) c.1842C>G (p.Phe614Leu) | |
| 6 | g.6174647G>T | CA362661340 | F13A1 | c.1680C>A (p.Phe560Leu) c.1842C>A (p.Phe614Leu) | |
| 6 | g.6174648A>C | CA362661346 | F13A1 | c.1679T>G (p.Phe560Cys) c.1841T>G (p.Phe614Cys) | |
| 6 | g.6174648A>G | CA362661344 | F13A1 | c.1679T>C (p.Phe560Ser) c.1841T>C (p.Phe614Ser) | |
| 6 | g.6174648A>T | CA362661342 | F13A1 | c.1679T>A (p.Phe560Tyr) c.1841T>A (p.Phe614Tyr) | |
| 6 | g.6174649A>C | CA362661348 | F13A1 | c.1678T>G (p.Phe560Val) c.1840T>G (p.Phe614Val) | gnomAD v3 gnomAD v4 |
| 6 | g.6174649A>G | CA362661350 | F13A1 | c.1678T>C (p.Phe560Leu) c.1840T>C (p.Phe614Leu) | |
| 6 | g.6174649A>T | CA362661352 | F13A1 | c.1678T>A (p.Phe560Ile) c.1840T>A (p.Phe614Ile) | |
| 6 | g.6174650G>A | CA448499267 | F13A1 | c.1677C>T (p.Thr559=) c.1839C>T (p.Thr613=) | COSMIC |
| 6 | g.6174650G>C | CA448499268 | F13A1 | c.1677C>G (p.Thr559=) c.1839C>G (p.Thr613=) | |
| 6 | g.6174650G>T | CA448499269 | F13A1 | c.1677C>A (p.Thr559=) c.1839C>A (p.Thr613=) | |
| 6 | g.6174651G>A | CA362661354 | F13A1 | c.1676C>T (p.Thr559Ile) c.1838C>T (p.Thr613Ile) | gnomAD v4 |
| 6 | g.6174651G>C | CA362661356 | F13A1 | c.1676C>G (p.Thr559Ser) c.1838C>G (p.Thr613Ser) | |
| 6 | g.6174651G= | CA1607969919 | F13A1 | c.1676C= (p.Thr559=) c.1838C= (p.Thr613=) | |
| 6 | g.6174651G>T | CA3624286 | F13A1 | c.1676C>A (p.Thr559Asn) c.1838C>A (p.Thr613Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.6174652T>A | CA362661361 | F13A1 | c.1675A>T (p.Thr559Ser) c.1837A>T (p.Thr613Ser) | |
| 6 | g.6174652T>C | CA362661363 | F13A1 | c.1675A>G (p.Thr559Ala) c.1837A>G (p.Thr613Ala) | |
| 6 | g.6174652T>G | CA362661365 | F13A1 | c.1675A>C (p.Thr559Pro) c.1837A>C (p.Thr613Pro) | |
| 6 | g.6174653G>A | CA448499270 | F13A1 | c.1674C>T (p.Ile558=) c.1836C>T (p.Ile612=) | dbSNP gnomAD v4 |
| 6 | g.6174653G>C | CA362661369 | F13A1 | c.1674C>G (p.Ile558Met) c.1836C>G (p.Ile612Met) | |
| 6 | g.6174653G= | CA1607969920 | F13A1 | c.1674C= (p.Ile558=) c.1836C= (p.Ile612=) | |
| 6 | g.6174653G>T | CA448499271 | F13A1 | c.1674C>A (p.Ile558=) c.1836C>A (p.Ile612=) | |
| 6 | g.6174654A>C | CA362661371 | F13A1 | c.1673T>G (p.Ile558Ser) c.1835T>G (p.Ile612Ser) | |
| 6 | g.6174654A>G | CA362661373 | F13A1 | c.1673T>C (p.Ile558Thr) c.1835T>C (p.Ile612Thr) | |
| 6 | g.6174654A>T | CA362661375 | F13A1 | c.1673T>A (p.Ile558Asn) c.1835T>A (p.Ile612Asn) | |
| 6 | g.6174655T>A | CA362661379 | F13A1 | c.1672A>T (p.Ile558Phe) c.1834A>T (p.Ile612Phe) | |
| 6 | g.6174655T>C | CA362661381 | F13A1 | c.1672A>G (p.Ile558Val) c.1834A>G (p.Ile612Val) | gnomAD v4 |
| 6 | g.6174655T>G | CA362661377 | F13A1 | c.1672A>C (p.Ile558Leu) c.1834A>C (p.Ile612Leu) | |
| 6 | g.6174656G>A | CA3624287 | F13A1 | c.1671C>T (p.Asn557=) c.1833C>T (p.Asn611=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6174656G>C | CA362661384 | F13A1 | c.1671C>G (p.Asn557Lys) c.1833C>G (p.Asn611Lys) | |
| 6 | g.6174656G= | CA1607969921 | F13A1 | c.1671C= (p.Asn557=) c.1833C= (p.Asn611=) | |
| 6 | g.6174656G>T | CA362661386 | F13A1 | c.1671C>A (p.Asn557Lys) c.1833C>A (p.Asn611Lys) | |
| 6 | g.6174657T>A | CA362661389 | F13A1 | c.1670A>T (p.Asn557Ile) c.1832A>T (p.Asn611Ile) | |
| 6 | g.6174657T>C | CA362661393 | F13A1 | c.1670A>G (p.Asn557Ser) c.1832A>G (p.Asn611Ser) | gnomAD v4 |
| 6 | g.6174657T>G | CA362661391 | F13A1 | c.1670A>C (p.Asn557Thr) c.1832A>C (p.Asn611Thr) | |
| 6 | g.6174658T>A | CA362661395 | F13A1 | c.1669A>T (p.Asn557Tyr) c.1831A>T (p.Asn611Tyr) | |
| 6 | g.6174658T>C | CA362661396 | F13A1 | c.1669A>G (p.Asn557Asp) c.1831A>G (p.Asn611Asp) | |
| 6 | g.6174658T>G | CA362661398 | F13A1 | c.1669A>C (p.Asn557His) c.1831A>C (p.Asn611His) | |
| 6 | g.6174659G>A | CA448499272 | F13A1 | c.1668C>T (p.Ala556=) c.1830C>T (p.Ala610=) | |
| 6 | g.6174659G>C | CA448499273 | F13A1 | c.1668C>G (p.Ala556=) c.1830C>G (p.Ala610=) | |
| 6 | g.6174659G>T | CA448499274 | F13A1 | c.1668C>A (p.Ala556=) c.1830C>A (p.Ala610=) | |
| 6 | g.6174660G>A | CA362661401 | F13A1 | c.1667C>T (p.Ala556Val) c.1829C>T (p.Ala610Val) | |
| 6 | g.6174660G>C | CA3624288 | F13A1 | c.1667C>G (p.Ala556Gly) c.1829C>G (p.Ala610Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.6174660G= | CA1607969922 | F13A1 | c.1667C= (p.Ala556=) c.1829C= (p.Ala610=) | |
| 6 | g.6174660G>T | CA362661404 | F13A1 | c.1667C>A (p.Ala556Asp) c.1829C>A (p.Ala610Asp) | |
| 6 | g.6174661C>A | CA362661405 | F13A1 | c.1666G>T (p.Ala556Ser) c.1828G>T (p.Ala610Ser) | |
| 6 | g.6174661C>G | CA362661407 | F13A1 | c.1666G>C (p.Ala556Pro) c.1828G>C (p.Ala610Pro) | |
| 6 | g.6174661C>T | CA362661409 | F13A1 | c.1666G>A (p.Ala556Thr) c.1828G>A (p.Ala610Thr) | |
| 6 | g.6174662T>A | CA448499276 | F13A1 | c.1665A>T (p.Ser555=) c.1827A>T (p.Ser609=) | |
| 6 | g.6174662T>C | CA448499277 | F13A1 | c.1665A>G (p.Ser555=) c.1827A>G (p.Ser609=) | |
| 6 | g.6174662T>G | CA448499275 | F13A1 | c.1665A>C (p.Ser555=) c.1827A>C (p.Ser609=) | |
| 6 | g.6174663G>A | CA3624289 | F13A1 | c.1664C>T (p.Ser555Leu) c.1826C>T (p.Ser609Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6174663G>C | CA362661413 | F13A1 | c.1664C>G (p.Ser555Ter) c.1826C>G (p.Ser609Ter) | |
| 6 | g.6174663G= | CA1607969923 | F13A1 | c.1664C= (p.Ser555=) c.1826C= (p.Ser609=) | |
| 6 | g.6174663G>T | CA362661415 | F13A1 | c.1664C>A (p.Ser555Ter) c.1826C>A (p.Ser609Ter) | |
| 6 | g.6174664A>C | CA362661421 | F13A1 | c.1663T>G (p.Ser555Ala) c.1825T>G (p.Ser609Ala) | |
| 6 | g.6174664A>G | CA362661417 | F13A1 | c.1663T>C (p.Ser555Pro) c.1825T>C (p.Ser609Pro) | |
| 6 | g.6174664A>T | CA362661419 | F13A1 | c.1663T>A (p.Ser555Thr) c.1825T>A (p.Ser609Thr) | |
| 6 | g.6174665G>A | CA448499280 | F13A1 | c.1662C>T (p.Leu554=) c.1824C>T (p.Leu608=) | |
| 6 | g.6174665G>C | CA448499279 | F13A1 | c.1662C>G (p.Leu554=) c.1824C>G (p.Leu608=) | |
| 6 | g.6174665G>T | CA448499278 | F13A1 | c.1662C>A (p.Leu554=) c.1824C>A (p.Leu608=) | |
| 6 | g.6174666_6174675del | CA2695205932 | F13A1 | c.1653_1662del (p.Ala552GlnfsTer22) c.1815_1824del (p.Ala606GlnfsTer22) | |
| 6 | g.6174677_6174678insTTGGGTGTGTTTGGTGTGTTGGTTGCGAGATAAGCTGTG | CA2769868351 | F13A1 | c.1662_1663insGCAACCAACACACCAAACACACCCAACACAGCTTATCTC (p.Leu554_Ser555insAlaThrAsnThrProAsnThrProAsnThrAlaTyrLeu) c.1824_1825insGCAACCAACACACCAAACACACCCAACACAGCTTATCTC (p.Leu608_Ser609insAlaThrAsnThrProAsnThrProAsnThrAlaTyrLeu) | |
| 6 | g.6174666A>C | CA362661423 | F13A1 | c.1661T>G (p.Leu554Arg) c.1823T>G (p.Leu608Arg) | |
| 6 | g.6174666A>G | CA362661425 | F13A1 | c.1661T>C (p.Leu554Pro) c.1823T>C (p.Leu608Pro) | COSMIC |
| 6 | g.6174666A>T | CA362661427 | F13A1 | c.1661T>A (p.Leu554His) c.1823T>A (p.Leu608His) | |
| 6 | g.6174667G>A | CA362661429 | F13A1 | c.1660C>T (p.Leu554Phe) c.1822C>T (p.Leu608Phe) | |
| 6 | g.6174667G>C | CA362661431 | F13A1 | c.1660C>G (p.Leu554Val) c.1822C>G (p.Leu608Val) | dbSNP |
| 6 | g.6174667G= | CA1607969924 | F13A1 | c.1660C= (p.Leu554=) c.1822C= (p.Leu608=) | |
| 6 | g.6174667G>T | CA362661433 | F13A1 | c.1660C>A (p.Leu554Ile) c.1822C>A (p.Leu608Ile) | |
| 6 | g.6174677_6174678insTTGGGTGTGTTTGGGTTGTGGTGGATAAGCTGTG | CA2769868352 | F13A1 | c.1660_1661insCACCACAACCCAAACACACCCAACACAGCTTATC (p.Leu554ProfsTer?) c.1822_1823insCACCACAACCCAAACACACCCAACACAGCTTATC (p.Leu608ProfsTer?) | |
| 6 | g.6174668A= | CA1607969925 | F13A1 | c.1659T= (p.Tyr553=) c.1821T= (p.Tyr607=) | |
| 6 | g.6174668A>C | CA362661436 | F13A1 | c.1659T>G (p.Tyr553Ter) c.1821T>G (p.Tyr607Ter) | |
| 6 | g.6174668A>G | CA448499282 | F13A1 | c.1659T>C (p.Tyr553=) c.1821T>C (p.Tyr607=) | dbSNP |
| 6 | g.6174668A>T | CA362661437 | F13A1 | c.1659T>A (p.Tyr553Ter) c.1821T>A (p.Tyr607Ter) | |
| 6 | g.6174669T>A | CA362661438 | F13A1 | c.1658A>T (p.Tyr553Phe) c.1820A>T (p.Tyr607Phe) | |
| 6 | g.6174669T>C | CA362661439 | F13A1 | c.1658A>G (p.Tyr553Cys) c.1820A>G (p.Tyr607Cys) | |
| 6 | g.6174669T>G | CA362661440 | F13A1 | c.1658A>C (p.Tyr553Ser) c.1820A>C (p.Tyr607Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.6174669T= | CA1607969926 | F13A1 | c.1658A= (p.Tyr553=) c.1820A= (p.Tyr607=) | |
| 6 | g.6174670A>C | CA362661444 | F13A1 | c.1657T>G (p.Tyr553Asp) c.1819T>G (p.Tyr607Asp) | |
| 6 | g.6174670A>G | CA362661442 | F13A1 | c.1657T>C (p.Tyr553His) c.1819T>C (p.Tyr607His) | |
| 6 | g.6174670A>T | CA362661441 | F13A1 | c.1657T>A (p.Tyr553Asn) c.1819T>A (p.Tyr607Asn) | |
| 6 | g.6174671A>C | CA448499283 | F13A1 | c.1656T>G (p.Ala552=) c.1818T>G (p.Ala606=) | |
| 6 | g.6174671A>G | CA448499284 | F13A1 | c.1656T>C (p.Ala552=) c.1818T>C (p.Ala606=) | |
| 6 | g.6174671A>T | CA448499285 | F13A1 | c.1656T>A (p.Ala552=) c.1818T>A (p.Ala606=) | |
| 6 | g.6174672G>A | CA362661447 | F13A1 | c.1655C>T (p.Ala552Val) c.1817C>T (p.Ala606Val) | |
| 6 | g.6174672G>C | CA362661449 | F13A1 | c.1655C>G (p.Ala552Gly) c.1817C>G (p.Ala606Gly) | |
| 6 | g.6174672G>T | CA362661451 | F13A1 | c.1655C>A (p.Ala552Asp) c.1817C>A (p.Ala606Asp) | |
| 6 | g.6174673C>A | CA362661454 | F13A1 | c.1654G>T (p.Ala552Ser) c.1816G>T (p.Ala606Ser) | |
| 6 | g.6174673C= | CA1607969927 | F13A1 | c.1654G= (p.Ala552=) c.1816G= (p.Ala606=) | |
| 6 | g.6174673C>G | CA362661456 | F13A1 | c.1654G>C (p.Ala552Pro) c.1816G>C (p.Ala606Pro) | |
| 6 | g.6174673C>T | CA3624290 | F13A1 | c.1654G>A (p.Ala552Thr) c.1816G>A (p.Ala606Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.6174674T>A | CA448499286 | F13A1 | c.1653A>T (p.Thr551=) c.1815A>T (p.Thr605=) | |
| 6 | g.6174674T>C | CA448499287 | F13A1 | c.1653A>G (p.Thr551=) c.1815A>G (p.Thr605=) | |
| 6 | g.6174674T>G | CA448499288 | F13A1 | c.1653A>C (p.Thr551=) c.1815A>C (p.Thr605=) | |
| 6 | g.6174675del | CA2695205933 | F13A1 | c.1652del (p.Thr551LysfsTer26) c.1814del (p.Thr605LysfsTer26) | |
| 6 | g.6174675G>A | CA3624291 | F13A1 | c.1652C>T (p.Thr551Ile) c.1814C>T (p.Thr605Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6174675G>C | CA362661461 | F13A1 | c.1652C>G (p.Thr551Arg) c.1814C>G (p.Thr605Arg) | |
| 6 | g.6174675G= | CA1607969928 | F13A1 | c.1652C= (p.Thr551=) c.1814C= (p.Thr605=) | |
| 6 | g.6174675G>T | CA362661463 | F13A1 | c.1652C>A (p.Thr551Lys) c.1814C>A (p.Thr605Lys) | |
| 6 | g.6174676T>A | CA362661466 | F13A1 | c.1651A>T (p.Thr551Ser) c.1813A>T (p.Thr605Ser) | |
| 6 | g.6174676T>C | CA362661468 | F13A1 | c.1651A>G (p.Thr551Ala) c.1813A>G (p.Thr605Ala) | |
| 6 | g.6174676T>G | CA362661470 | F13A1 | c.1651A>C (p.Thr551Pro) c.1813A>C (p.Thr605Pro) | |
| 6 | g.6174677G>A | CA448499289 | F13A1 | c.1650C>T (p.Ile550=) c.1812C>T (p.Ile604=) | |
| 6 | g.6174677G>C | CA362661475 | F13A1 | c.1650C>G (p.Ile550Met) c.1812C>G (p.Ile604Met) | |
| 6 | g.6174677G>T | CA448499290 | F13A1 | c.1650C>A (p.Ile550=) c.1812C>A (p.Ile604=) | |
| 6 | g.6174678A>C | CA362661483 | F13A1 | c.1649T>G (p.Ile550Ser) c.1811T>G (p.Ile604Ser) | gnomAD v4 |
| 6 | g.6174678A>G | CA362661478 | F13A1 | c.1649T>C (p.Ile550Thr) c.1811T>C (p.Ile604Thr) | gnomAD v4 |
| 6 | g.6174678A>T | CA362661480 | F13A1 | c.1649T>A (p.Ile550Asn) c.1811T>A (p.Ile604Asn) | |
| 6 | g.6174679T>A | CA362661485 | F13A1 | c.1648A>T (p.Ile550Phe) c.1810A>T (p.Ile604Phe) | COSMIC |
| 6 | g.6174679T>C | CA362661487 | F13A1 | c.1648A>G (p.Ile550Val) c.1810A>G (p.Ile604Val) | |
| 6 | g.6174679T>G | CA362661489 | F13A1 | c.1648A>C (p.Ile550Leu) c.1810A>C (p.Ile604Leu) | |
| 6 | g.6174680G>A | CA448499291 | F13A1 | c.1647C>T (p.Thr549=) c.1809C>T (p.Thr603=) | |
| 6 | g.6174680G>C | CA448499292 | F13A1 | c.1647C>G (p.Thr549=) c.1809C>G (p.Thr603=) | |
| 6 | g.6174680G>T | CA448499293 | F13A1 | c.1647C>A (p.Thr549=) c.1809C>A (p.Thr603=) | dbSNP |
| 6 | g.6174681dup | CA2769868353 | F13A1 | c.1647dup (p.Ile550HisfsTer?) c.1809dup (p.Ile604HisfsTer?) | |
| 6 | g.6174681G>A | CA362661492 | F13A1 | c.1646C>T (p.Thr549Ile) c.1808C>T (p.Thr603Ile) | gnomAD v4 |
| 6 | g.6174681G>C | CA362661493 | F13A1 | c.1646C>G (p.Thr549Ser) c.1808C>G (p.Thr603Ser) | |
| 6 | g.6174681G>T | CA362661495 | F13A1 | c.1646C>A (p.Thr549Asn) c.1808C>A (p.Thr603Asn) | gnomAD v4 |
| 6 | g.6174681_6174682insGTG | CA2769868354 | F13A1 | c.1646_1647insACC (p.Thr549_Ile550insPro) c.1808_1809insACC (p.Thr603_Ile604insPro) | |
| 6 | g.6174682T>A | CA362661497 | F13A1 | c.1645A>T (p.Thr549Ser) c.1807A>T (p.Thr603Ser) | |
| 6 | g.6174682T>C | CA362661499 | F13A1 | c.1645A>G (p.Thr549Ala) c.1807A>G (p.Thr603Ala) | |
| 6 | g.6174682T>G | CA362661501 | F13A1 | c.1645A>C (p.Thr549Pro) c.1807A>C (p.Thr603Pro) | |
| 6 | g.6174683G>A | CA448499294 | F13A1 | c.1644C>T (p.Tyr548=) c.1806C>T (p.Tyr602=) | |
| 6 | g.6174683G>C | CA362661504 | F13A1 | c.1644C>G (p.Tyr548Ter) c.1806C>G (p.Tyr602Ter) | |
| 6 | g.6174683G>T | CA362661507 | F13A1 | c.1644C>A (p.Tyr548Ter) c.1806C>A (p.Tyr602Ter) | |
| 6 | g.6174684T>A | CA362661514 | F13A1 | c.1643A>T (p.Tyr548Phe) c.1805A>T (p.Tyr602Phe) | |
| 6 | g.6174684T>C | CA362661512 | F13A1 | c.1643A>G (p.Tyr548Cys) c.1805A>G (p.Tyr602Cys) | |
| 6 | g.6174684T>G | CA362661509 | F13A1 | c.1643A>C (p.Tyr548Ser) c.1805A>C (p.Tyr602Ser) | dbSNP |
| 6 | g.6174684T= | CA1607969929 | F13A1 | c.1643A= (p.Tyr548=) c.1805A= (p.Tyr602=) | |
| 6 | g.6174684dup | CA2695205934 | F13A1 | c.1643dup (p.Tyr548Ter) c.1805dup (p.Tyr602Ter) | |
| 6 | g.6174685A>C | CA362661517 | F13A1 | c.1642T>G (p.Tyr548Asp) c.1804T>G (p.Tyr602Asp) | |
| 6 | g.6174685A>G | CA362661522 | F13A1 | c.1642T>C (p.Tyr548His) c.1804T>C (p.Tyr602His) | |
| 6 | g.6174685A>T | CA362661525 | F13A1 | c.1642T>A (p.Tyr548Asn) c.1804T>A (p.Tyr602Asn) | |
| 6 | g.6174686A>C | CA448499295 | F13A1 | c.1641T>G (p.Arg547=) c.1803T>G (p.Arg601=) | |
| 6 | g.6174686A>G | CA448499296 | F13A1 | c.1641T>C (p.Arg547=) c.1803T>C (p.Arg601=) | gnomAD v4 |
| 6 | g.6174686A>T | CA448499297 | F13A1 | c.1641T>A (p.Arg547=) c.1803T>A (p.Arg601=) | |
| 6 | g.6174687C>A | CA362661527 | F13A1 | c.1640G>T (p.Arg547Leu) c.1802G>T (p.Arg601Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.6174687C= | CA1607969930 | F13A1 | c.1640G= (p.Arg547=) c.1802G= (p.Arg601=) | |
| 6 | g.6174687C>G | CA362661528 | F13A1 | c.1640G>C (p.Arg547Pro) c.1802G>C (p.Arg601Pro) | |
| 6 | g.6174687C>T | CA3624292 | F13A1 | c.1640G>A (p.Arg547His) c.1802G>A (p.Arg601His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.6174688G>A | CA3624293 | F13A1 | c.1639C>T (p.Arg547Cys) c.1801C>T (p.Arg601Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.6174688G>C | CA362661531 | F13A1 | c.1639C>G (p.Arg547Gly) c.1801C>G (p.Arg601Gly) | |
| 6 | g.6174688G= | CA1607969931 | F13A1 | c.1639C= (p.Arg547=) c.1801C= (p.Arg601=) | |
| 6 | g.6174688G>T | CA362661532 | F13A1 | c.1639C>A (p.Arg547Ser) c.1801C>A (p.Arg601Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.6174689G>A | CA448499298 | F13A1 | c.1638C>T (p.Asn546=) c.1800C>T (p.Asn600=) | |
| 6 | g.6174689G>C | CA362661535 | F13A1 | c.1638C>G (p.Asn546Lys) c.1800C>G (p.Asn600Lys) | |
| 6 | g.6174689G>T | CA362661537 | F13A1 | c.1638C>A (p.Asn546Lys) c.1800C>A (p.Asn600Lys) | gnomAD v4 |
| 6 | g.6174690T>A | CA362661539 | F13A1 | c.1637A>T (p.Asn546Ile) c.1799A>T (p.Asn600Ile) | |
| 6 | g.6174690T>C | CA362661541 | F13A1 | c.1637A>G (p.Asn546Ser) c.1799A>G (p.Asn600Ser) | |
| 6 | g.6174690T>G | CA362661543 | F13A1 | c.1637A>C (p.Asn546Thr) c.1799A>C (p.Asn600Thr) | |
| 6 | g.6174691T>A | CA362661551 | F13A1 | c.1636A>T (p.Asn546Tyr) c.1798A>T (p.Asn600Tyr) | |
| 6 | g.6174691T>C | CA362661546 | F13A1 | c.1636A>G (p.Asn546Asp) c.1798A>G (p.Asn600Asp) | |
| 6 | g.6174691T>G | CA362661548 | F13A1 | c.1636A>C (p.Asn546His) c.1798A>C (p.Asn600His) | |
| 6 | g.6174692G>A | CA448499299 | F13A1 | c.1635C>T (p.His545=) c.1797C>T (p.His599=) | |
| 6 | g.6174692G>C | CA362661553 | F13A1 | c.1635C>G (p.His545Gln) c.1797C>G (p.His599Gln) | |
| 6 | g.6174692G>T | CA362661555 | F13A1 | c.1635C>A (p.His545Gln) c.1797C>A (p.His599Gln) | |
| 6 | g.6174693T>A | CA362661557 | F13A1 | c.1634A>T (p.His545Leu) c.1796A>T (p.His599Leu) | |
| 6 | g.6174693T>C | CA362661560 | F13A1 | c.1634A>G (p.His545Arg) c.1796A>G (p.His599Arg) | gnomAD v4 |
| 6 | g.6174693T>G | CA362661563 | F13A1 | c.1634A>C (p.His545Pro) c.1796A>C (p.His599Pro) | |
| 6 | g.6174694G>A | CA362661567 | F13A1 | c.1633C>T (p.His545Tyr) c.1795C>T (p.His599Tyr) | |
| 6 | g.6174694G>C | CA362661569 | F13A1 | c.1633C>G (p.His545Asp) c.1795C>G (p.His599Asp) | |
| 6 | g.6174694G>T | CA362661572 | F13A1 | c.1633C>A (p.His545Asn) c.1795C>A (p.His599Asn) | |
| 6 | g.6174695G>A | CA448499300 | F13A1 | c.1632C>T (p.Ser544=) c.1794C>T (p.Ser598=) | |
| 6 | g.6174695G>C | CA362661575 | F13A1 | c.1632C>G (p.Ser544Arg) c.1794C>G (p.Ser598Arg) | |
| 6 | g.6174695G>T | CA362661576 | F13A1 | c.1632C>A (p.Ser544Arg) c.1794C>A (p.Ser598Arg) | |
| 6 | g.6174696C>A | CA362661579 | F13A1 | c.1631G>T (p.Ser544Ile) c.1793G>T (p.Ser598Ile) | |
| 6 | g.6174696C>G | CA362661582 | F13A1 | c.1631G>C (p.Ser544Thr) c.1793G>C (p.Ser598Thr) | |
| 6 | g.6174696C>T | CA362661586 | F13A1 | c.1631G>A (p.Ser544Asn) c.1793G>A (p.Ser598Asn) | |
| 6 | g.6174697T>A | CA362661591 | F13A1 | c.1630A>T (p.Ser544Cys) c.1792A>T (p.Ser598Cys) | |
| 6 | g.6174697T>C | CA362661600 | F13A1 | c.1630A>G (p.Ser544Gly) c.1792A>G (p.Ser598Gly) | |
| 6 | g.6174697T>G | CA362661596 | F13A1 | c.1630A>C (p.Ser544Arg) c.1792A>C (p.Ser598Arg) | |
| 6 | g.6174698G>A | CA448499301 | F13A1 | c.1629C>T (p.Asn543=) c.1791C>T (p.Asn597=) | |
| 6 | g.6174698G>C | CA362661601 | F13A1 | c.1629C>G (p.Asn543Lys) c.1791C>G (p.Asn597Lys) | |
| 6 | g.6174698G>T | CA362661602 | F13A1 | c.1629C>A (p.Asn543Lys) c.1791C>A (p.Asn597Lys) | COSMIC |
| 6 | g.6174699T>A | CA362661604 | F13A1 | c.1628A>T (p.Asn543Ile) c.1790A>T (p.Asn597Ile) | |
| 6 | g.6174699T>C | CA362661606 | F13A1 | c.1628A>G (p.Asn543Ser) c.1790A>G (p.Asn597Ser) | gnomAD v4 |
| 6 | g.6174699T>G | CA3624294 | F13A1 | c.1628A>C (p.Asn543Thr) c.1790A>C (p.Asn597Thr) | dbSNP ExAC gnomAD v2 |
| 6 | g.6174699T= | CA1607969932 | F13A1 | c.1628A= (p.Asn543=) c.1790A= (p.Asn597=) | |
| 6 | g.6174700T>A | CA362661609 | F13A1 | c.1627A>T (p.Asn543Tyr) c.1789A>T (p.Asn597Tyr) | |
| 6 | g.6174700T>C | CA362661610 | F13A1 | c.1627A>G (p.Asn543Asp) c.1789A>G (p.Asn597Asp) | gnomAD v4 |
| 6 | g.6174700T>G | CA362661611 | F13A1 | c.1627A>C (p.Asn543His) c.1789A>C (p.Asn597His) | |
| 6 | g.6174701G>A | CA448499302 | F13A1 | c.1626C>T (p.Asn542=) c.1788C>T (p.Asn596=) | |
| 6 | g.6174701G>C | CA362661613 | F13A1 | c.1626C>G (p.Asn542Lys) c.1788C>G (p.Asn596Lys) | dbSNP |
| 6 | g.6174701G= | CA1607969933 | F13A1 | c.1626C= (p.Asn542=) c.1788C= (p.Asn596=) | |
| 6 | g.6174701G>T | CA362661616 | F13A1 | c.1626C>A (p.Asn542Lys) c.1788C>A (p.Asn596Lys) | |
| 6 | g.6174702T>A | CA362661621 | F13A1 | c.1625A>T (p.Asn542Ile) c.1787A>T (p.Asn596Ile) | |
| 6 | g.6174702T>C | CA3624295 | F13A1 | c.1625A>G (p.Asn542Ser) c.1787A>G (p.Asn596Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6174702T>G | CA362661629 | F13A1 | c.1625A>C (p.Asn542Thr) c.1787A>C (p.Asn596Thr) | |
| 6 | g.6174702T= | CA1607969934 | F13A1 | c.1625A= (p.Asn542=) c.1787A= (p.Asn596=) | |
| 6 | g.6174703T>A | CA362661641 | F13A1 | c.1624A>T (p.Asn542Tyr) c.1786A>T (p.Asn596Tyr) | gnomAD v4 |
| 6 | g.6174703T>C | CA362661634 | F13A1 | c.1624A>G (p.Asn542Asp) c.1786A>G (p.Asn596Asp) | |
| 6 | g.6174703T>G | CA362661638 | F13A1 | c.1624A>C (p.Asn542His) c.1786A>C (p.Asn596His) | |
| 6 | g.6174704C>A | CA448499304 | F13A1 | c.1623G>T (p.Arg541=) c.1785G>T (p.Arg595=) | |
| 6 | g.6174704C>G | CA448499305 | F13A1 | c.1623G>C (p.Arg541=) c.1785G>C (p.Arg595=) | |
| 6 | g.6174704C>T | CA448499303 | F13A1 | c.1623G>A (p.Arg541=) c.1785G>A (p.Arg595=) | |
| 6 | g.6174705del | CA2677190593 | F13A1 | c.1623del (p.Asn542ThrfsTer?) c.1785del (p.Asn596ThrfsTer?) | gnomAD v4 |
| 6 | g.6174705C>A | CA3624297 | F13A1 | c.1622G>T (p.Arg541Leu) c.1784G>T (p.Arg595Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6174705C= | CA1607969935 | F13A1 | c.1622G= (p.Arg541=) c.1784G= (p.Arg595=) | |
| 6 | g.6174705C>G | CA362661647 | F13A1 | c.1622G>C (p.Arg541Pro) c.1784G>C (p.Arg595Pro) | |
| 6 | g.6174705C>T | CA3624296 | F13A1 | c.1622G>A (p.Arg541Gln) c.1784G>A (p.Arg595Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6174706G>A | CA362661650 | F13A1 | c.1621C>T (p.Arg541Trp) c.1783C>T (p.Arg595Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.6174706G>C | CA362661653 | F13A1 | c.1621C>G (p.Arg541Gly) c.1783C>G (p.Arg595Gly) | |
| 6 | g.6174706G= | CA1607969936 | F13A1 | c.1621C= (p.Arg541=) c.1783C= (p.Arg595=) | |
| 6 | g.6174706G>T | CA448499306 | F13A1 | c.1621C>A (p.Arg541=) c.1783C>A (p.Arg595=) | |
| 6 | g.6174707G>A | CA3624298 | F13A1 | c.1620C>T (p.Phe540=) c.1782C>T (p.Phe594=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6174707G>C | CA362661657 | F13A1 | c.1620C>G (p.Phe540Leu) c.1782C>G (p.Phe594Leu) | |
| 6 | g.6174707G= | CA1607969937 | F13A1 | c.1620C= (p.Phe540=) c.1782C= (p.Phe594=) | |
| 6 | g.6174707G>T | CA362661660 | F13A1 | c.1620C>A (p.Phe540Leu) c.1782C>A (p.Phe594Leu) | |
| 6 | g.6174708A>C | CA362661661 | F13A1 | c.1619T>G (p.Phe540Cys) c.1781T>G (p.Phe594Cys) | |
| 6 | g.6174708A>G | CA362661662 | F13A1 | c.1619T>C (p.Phe540Ser) c.1781T>C (p.Phe594Ser) | gnomAD v4 |
| 6 | g.6174708A>T | CA362661663 | F13A1 | c.1619T>A (p.Phe540Tyr) c.1781T>A (p.Phe594Tyr) | |
| 6 | g.6174709A>C | CA362661672 | F13A1 | c.1618T>G (p.Phe540Val) c.1780T>G (p.Phe594Val) | |
| 6 | g.6174709A>G | CA362661669 | F13A1 | c.1618T>C (p.Phe540Leu) c.1780T>C (p.Phe594Leu) | gnomAD v4 |
| 6 | g.6174709A>T | CA362661666 | F13A1 | c.1618T>A (p.Phe540Ile) c.1780T>A (p.Phe594Ile) | |
| 6 | g.6174710G>A | CA448499307 | F13A1 | c.1617C>T (p.Thr539=) c.1779C>T (p.Thr593=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.6174710G>C | CA448499309 | F13A1 | c.1617C>G (p.Thr539=) c.1779C>G (p.Thr593=) | |
| 6 | g.6174710G= | CA1607969938 | F13A1 | c.1617C= (p.Thr539=) c.1779C= (p.Thr593=) | |
| 6 | g.6174710G>T | CA448499308 | F13A1 | c.1617C>A (p.Thr539=) c.1779C>A (p.Thr593=) | |
| 6 | g.6174711G>A | CA362661674 | F13A1 | c.1616C>T (p.Thr539Ile) c.1778C>T (p.Thr593Ile) | |
| 6 | g.6174711G>C | CA362661682 | F13A1 | c.1616C>G (p.Thr539Ser) c.1778C>G (p.Thr593Ser) | |
| 6 | g.6174711G>T | CA362661679 | F13A1 | c.1616C>A (p.Thr539Asn) c.1778C>A (p.Thr593Asn) | |
| 6 | g.6174712T>A | CA362661686 | F13A1 | c.1615A>T (p.Thr539Ser) c.1777A>T (p.Thr593Ser) | |
| 6 | g.6174712T>C | CA362661691 | F13A1 | c.1615A>G (p.Thr539Ala) c.1777A>G (p.Thr593Ala) | |
| 6 | g.6174712T>G | CA362661687 | F13A1 | c.1615A>C (p.Thr539Pro) c.1777A>C (p.Thr593Pro) | dbSNP |
| 6 | g.6174712T= | CA1607969939 | F13A1 | c.1615A= (p.Thr539=) c.1777A= (p.Thr593=) | |
| 6 | g.6174713G>A | CA448499310 | F13A1 | c.1614C>T (p.Ile538=) c.1776C>T (p.Ile592=) | |
| 6 | g.6174713G>C | CA362661695 | F13A1 | c.1614C>G (p.Ile538Met) c.1776C>G (p.Ile592Met) | |
| 6 | g.6174713G>T | CA448499311 | F13A1 | c.1614C>A (p.Ile538=) c.1776C>A (p.Ile592=) | gnomAD v4 COSMIC |
| 6 | g.6174714A>C | CA362661697 | F13A1 | c.1613T>G (p.Ile538Ser) c.1775T>G (p.Ile592Ser) | |
| 6 | g.6174714A>G | CA362661700 | F13A1 | c.1613T>C (p.Ile538Thr) c.1775T>C (p.Ile592Thr) | |
| 6 | g.6174714A>T | CA362661703 | F13A1 | c.1613T>A (p.Ile538Asn) c.1775T>A (p.Ile592Asn) | |
| 6 | g.6174715T>A | CA362661706 | F13A1 | c.1612A>T (p.Ile538Phe) c.1774A>T (p.Ile592Phe) | gnomAD v4 |
| 6 | g.6174715T>C | CA362661708 | F13A1 | c.1612A>G (p.Ile538Val) c.1774A>G (p.Ile592Val) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.6174715T>G | CA362661711 | F13A1 | c.1612A>C (p.Ile538Leu) c.1774A>C (p.Ile592Leu) | |
| 6 | g.6174715T= | CA1607969940 | F13A1 | c.1612A= (p.Ile538=) c.1774A= (p.Ile592=) | |
| 6 | g.6174716G>A | CA448499312 | F13A1 | c.1611C>T (p.Ser537=) c.1773C>T (p.Ser591=) | |
| 6 | g.6174716G>C | CA448499313 | F13A1 | c.1611C>G (p.Ser537=) c.1773C>G (p.Ser591=) | |
| 6 | g.6174716G>T | CA448499314 | F13A1 | c.1611C>A (p.Ser537=) c.1773C>A (p.Ser591=) | |
| 6 | g.6174717G>A | CA362661714 | F13A1 | c.1610C>T (p.Ser537Phe) c.1772C>T (p.Ser591Phe) | |
| 6 | g.6174717G>C | CA362661717 | F13A1 | c.1610C>G (p.Ser537Cys) c.1772C>G (p.Ser591Cys) | |
| 6 | g.6174717G>T | CA362661719 | F13A1 | c.1610C>A (p.Ser537Tyr) c.1772C>A (p.Ser591Tyr) | |
| 6 | g.6174718A>C | CA362661727 | F13A1 | c.1609T>G (p.Ser537Ala) c.1771T>G (p.Ser591Ala) | |
| 6 | g.6174718A>G | CA362661726 | F13A1 | c.1609T>C (p.Ser537Pro) c.1771T>C (p.Ser591Pro) | |
| 6 | g.6174718A>T | CA362661723 | F13A1 | c.1609T>A (p.Ser537Thr) c.1771T>A (p.Ser591Thr) | |
| 6 | g.6174719G>A | CA448499315 | F13A1 | c.1608C>T (p.Leu536=) c.1770C>T (p.Leu590=) | gnomAD v4 |
| 6 | g.6174719G>C | CA448499316 | F13A1 | c.1608C>G (p.Leu536=) c.1770C>G (p.Leu590=) | gnomAD v4 |
| 6 | g.6174719G>T | CA448499317 | F13A1 | c.1608C>A (p.Leu536=) c.1770C>A (p.Leu590=) | |
| 6 | g.6174720del | CA2677190594 | F13A1 | c.1607del (p.Leu536ProfsTer?) c.1769del (p.Leu590ProfsTer?) | gnomAD v4 |
| 6 | g.6174720A= | CA1607969941 | F13A1 | c.1607T= (p.Leu536=) c.1769T= (p.Leu590=) | |
| 6 | g.6174720A>C | CA362661730 | F13A1 | c.1607T>G (p.Leu536Arg) c.1769T>G (p.Leu590Arg) | |
| 6 | g.6174720A>G | CA362661732 | F13A1 | c.1607T>C (p.Leu536Pro) c.1769T>C (p.Leu590Pro) | |
| 6 | g.6174720A>T | CA362661733 | F13A1 | c.1607T>A (p.Leu536His) c.1769T>A (p.Leu590His) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.6174721G>A | CA362661738 | F13A1 | c.1606C>T (p.Leu536Phe) c.1768C>T (p.Leu590Phe) | |
| 6 | g.6174721G>C | CA362661741 | F13A1 | c.1606C>G (p.Leu536Val) c.1768C>G (p.Leu590Val) | |
| 6 | g.6174721G>T | CA362661745 | F13A1 | c.1606C>A (p.Leu536Ile) c.1768C>A (p.Leu590Ile) | |
| 6 | g.6174722C>A | CA362661748 | F13A1 | c.1605G>T (p.Lys535Asn) c.1767G>T (p.Lys589Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.6174722C= | CA1607969942 | F13A1 | c.1605G= (p.Lys535=) c.1767G= (p.Lys589=) | |
| 6 | g.6174722C>G | CA362661750 | F13A1 | c.1605G>C (p.Lys535Asn) c.1767G>C (p.Lys589Asn) | |
| 6 | g.6174722C>T | CA3624299 | F13A1 | c.1605G>A (p.Lys535=) c.1767G>A (p.Lys589=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.6174723T>A | CA362661757 | F13A1 | c.1604A>T (p.Lys535Met) c.1766A>T (p.Lys589Met) | |
| 6 | g.6174723T>C | CA3624300 | F13A1 | c.1604A>G (p.Lys535Arg) c.1766A>G (p.Lys589Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6174723T>G | CA362661765 | F13A1 | c.1604A>C (p.Lys535Thr) c.1766A>C (p.Lys589Thr) | gnomAD v4 |
| 6 | g.6174723T= | CA1607969943 | F13A1 | c.1604A= (p.Lys535=) c.1766A= (p.Lys589=) | |
| 6 | g.6174724T>A | CA362661774 | F13A1 | c.1603A>T (p.Lys535Ter) c.1765A>T (p.Lys589Ter) | |
| 6 | g.6174724T>C | CA362661776 | F13A1 | c.1603A>G (p.Lys535Glu) c.1765A>G (p.Lys589Glu) | |
| 6 | g.6174724T>G | CA362661768 | F13A1 | c.1603A>C (p.Lys535Gln) c.1765A>C (p.Lys589Gln) | gnomAD v4 |
| 6 | g.6174725G>A | CA448499318 | F13A1 | c.1602C>T (p.Phe534=) c.1764C>T (p.Phe588=) | |
| 6 | g.6174725G>C | CA362661777 | F13A1 | c.1602C>G (p.Phe534Leu) c.1764C>G (p.Phe588Leu) | |
| 6 | g.6174725G>T | CA362661778 | F13A1 | c.1602C>A (p.Phe534Leu) c.1764C>A (p.Phe588Leu) | |
| 6 | g.6174726A>C | CA362661781 | F13A1 | c.1601T>G (p.Phe534Cys) c.1763T>G (p.Phe588Cys) | |
| 6 | g.6174726A>G | CA362661783 | F13A1 | c.1601T>C (p.Phe534Ser) c.1763T>C (p.Phe588Ser) | gnomAD v4 |
| 6 | g.6174726A>T | CA362661786 | F13A1 | c.1601T>A (p.Phe534Tyr) c.1763T>A (p.Phe588Tyr) | |
| 6 | g.6174727A= | CA1607969944 | F13A1 | c.1600T= (p.Phe534=) c.1762T= (p.Phe588=) | |
| 6 | g.6174727A>C | CA362661791 | F13A1 | c.1600T>G (p.Phe534Val) c.1762T>G (p.Phe588Val) | |
| 6 | g.6174727A>G | CA362661795 | F13A1 | c.1600T>C (p.Phe534Leu) c.1762T>C (p.Phe588Leu) | |
| 6 | g.6174727A>T | CA3624301 | F13A1 | c.1600T>A (p.Phe534Ile) c.1762T>A (p.Phe588Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.6174728G>A | CA448499319 | F13A1 | c.1599C>T (p.Asp533=) c.1761C>T (p.Asp587=) | dbSNP gnomAD v4 |
| 6 | g.6174728G>C | CA362661800 | F13A1 | c.1599C>G (p.Asp533Glu) c.1761C>G (p.Asp587Glu) | |
| 6 | g.6174728G= | CA1607969945 | F13A1 | c.1599C= (p.Asp533=) c.1761C= (p.Asp587=) | |
| 6 | g.6174728G>T | CA362661802 | F13A1 | c.1599C>A (p.Asp533Glu) c.1761C>A (p.Asp587Glu) | gnomAD v4 |
| 6 | g.6174729T>A | CA362661806 | F13A1 | c.1598A>T (p.Asp533Val) c.1760A>T (p.Asp587Val) | |
| 6 | g.6174729T>C | CA362661807 | F13A1 | c.1598A>G (p.Asp533Gly) c.1760A>G (p.Asp587Gly) | |
| 6 | g.6174729T>G | CA362661811 | F13A1 | c.1598A>C (p.Asp533Ala) c.1760A>C (p.Asp587Ala) | |
| 6 | g.6174730C>A | CA362661822 | F13A1 | c.1597G>T (p.Asp533Tyr) c.1759G>T (p.Asp587Tyr) | dbSNP COSMIC |
| 6 | g.6174730C= | CA1607969946 | F13A1 | c.1597G= (p.Asp533=) c.1759G= (p.Asp587=) | |
| 6 | g.6174730C>G | CA362661818 | F13A1 | c.1597G>C (p.Asp533His) c.1759G>C (p.Asp587His) | |
| 6 | g.6174730C>T | CA362661815 | F13A1 | c.1597G>A (p.Asp533Asn) c.1759G>A (p.Asp587Asn) | |
| 6 | g.6174730_6174732delinsCTT | CA1607969947 | F13A1 | c.1595_1597delinsAAG (p.Lys532=) c.1757_1759delinsAAG (p.Lys586=) | |
| 6 | g.6174731T>A | CA362661824 | F13A1 | c.1596A>T (p.Lys532Asn) c.1758A>T (p.Lys586Asn) | |
| 6 | g.6174731T>C | CA448499320 | F13A1 | c.1596A>G (p.Lys532=) c.1758A>G (p.Lys586=) | |
| 6 | g.6174731T>G | CA362661828 | F13A1 | c.1596A>C (p.Lys532Asn) c.1758A>C (p.Lys586Asn) | |
| 6 | g.6174734dup | CA2769868355 | F13A1 | c.1596dup (p.Asp533ArgfsTer?) c.1758dup (p.Asp587ArgfsTer?) | |
| 6 | g.6174734del | CA2677190595 | F13A1 | c.1596del (p.Asp533ThrfsTer?) c.1758del (p.Asp587ThrfsTer?) | gnomAD v4 |
| 6 | g.6174733_6174734del | CA3624302 | F13A1 | c.1595_1596del (p.Lys532ArgfsTer?) c.1757_1758del (p.Lys586ArgfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |