Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.6182021T>A | CA362737292 | F13A1 | c.1426A>T (p.Met476Leu) c.1588A>T (p.Met530Leu) | |
6 | g.6182021T>C | CA362737291 | F13A1 | c.1426A>G (p.Met476Val) c.1588A>G (p.Met530Val) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.6182021T>G | CA362737290 | F13A1 | c.1426A>C (p.Met476Leu) c.1588A>C (p.Met530Leu) | |
6 | g.6182021T= | CA1607973388 | F13A1 | c.1426A= (p.Met476=) c.1588A= (p.Met530=) | |
6 | g.6182022C>A | CA362737293 | F13A1 | c.1425G>T (p.Met475Ile) c.1587G>T (p.Met529Ile) | |
6 | g.6182022C>G | CA362737294 | F13A1 | c.1425G>C (p.Met475Ile) c.1587G>C (p.Met529Ile) | |
6 | g.6182022C>T | CA362737295 | F13A1 | c.1425G>A (p.Met475Ile) c.1587G>A (p.Met529Ile) | |
6 | g.6182023A>C | CA362737296 | F13A1 | c.1424T>G (p.Met475Arg) c.1586T>G (p.Met529Arg) | |
6 | g.6182023A>G | CA362737297 | F13A1 | c.1424T>C (p.Met475Thr) c.1586T>C (p.Met529Thr) | |
6 | g.6182023A>T | CA362737298 | F13A1 | c.1424T>A (p.Met475Lys) c.1586T>A (p.Met529Lys) | |
6 | g.6182024T>A | CA362737300 | F13A1 | c.1423A>T (p.Met475Leu) c.1585A>T (p.Met529Leu) | |
6 | g.6182024T>C | CA362737301 | F13A1 | c.1423A>G (p.Met475Val) c.1585A>G (p.Met529Val) | |
6 | g.6182024T>G | CA362737303 | F13A1 | c.1423A>C (p.Met475Leu) c.1585A>C (p.Met529Leu) | |
6 | g.6182025G>A | CA448640485 | F13A1 | c.1422C>T (p.Gly474=) c.1584C>T (p.Gly528=) | gnomAD v4 |
6 | g.6182025G>C | CA448640486 | F13A1 | c.1422C>G (p.Gly474=) c.1584C>G (p.Gly528=) | |
6 | g.6182025G>T | CA448640487 | F13A1 | c.1422C>A (p.Gly474=) c.1584C>A (p.Gly528=) | |
6 | g.6182026C>A | CA362737306 | F13A1 | c.1421G>T (p.Gly474Val) c.1583G>T (p.Gly528Val) | |
6 | g.6182026C>G | CA362737307 | F13A1 | c.1421G>C (p.Gly474Ala) c.1583G>C (p.Gly528Ala) | |
6 | g.6182026C>T | CA362737309 | F13A1 | c.1421G>A (p.Gly474Asp) c.1583G>A (p.Gly528Asp) | |
6 | g.6182027C>A | CA362737312 | F13A1 | c.1420G>T (p.Gly474Cys) c.1582G>T (p.Gly528Cys) | |
6 | g.6182027C= | CA1607973389 | F13A1 | c.1420G= (p.Gly474=) c.1582G= (p.Gly528=) | |
6 | g.6182027C>G | CA362737318 | F13A1 | c.1420G>C (p.Gly474Arg) c.1582G>C (p.Gly528Arg) | |
6 | g.6182027C>T | CA362737316 | F13A1 | c.1420G>A (p.Gly474Ser) c.1582G>A (p.Gly528Ser) | dbSNP |
6 | g.6182028A= | CA1607973390 | F13A1 | c.1419T= (p.Asp473=) c.1581T= (p.Asp527=) | |
6 | g.6182028A>C | CA362737320 | F13A1 | c.1419T>G (p.Asp473Glu) c.1581T>G (p.Asp527Glu) | |
6 | g.6182028A>G | CA3624357 | F13A1 | c.1419T>C (p.Asp473=) c.1581T>C (p.Asp527=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.6182028A>T | CA362737321 | F13A1 | c.1419T>A (p.Asp473Glu) c.1581T>A (p.Asp527Glu) | |
6 | g.6182029T>A | CA362737323 | F13A1 | c.1418A>T (p.Asp473Val) c.1580A>T (p.Asp527Val) | |
6 | g.6182029T>C | CA362737326 | F13A1 | c.1418A>G (p.Asp473Gly) c.1580A>G (p.Asp527Gly) | |
6 | g.6182029T>G | CA362737324 | F13A1 | c.1418A>C (p.Asp473Ala) c.1580A>C (p.Asp527Ala) | |
6 | g.6182030C>A | CA362737328 | F13A1 | c.1417G>T (p.Asp473Tyr) c.1579G>T (p.Asp527Tyr) | |
6 | g.6182030C>G | CA362737331 | F13A1 | c.1417G>C (p.Asp473His) c.1579G>C (p.Asp527His) | |
6 | g.6182030C>T | CA362737330 | F13A1 | c.1417G>A (p.Asp473Asn) c.1579G>A (p.Asp527Asn) | gnomAD v4 |
6 | g.6182031T>A | CA448640488 | F13A1 | c.1416A>T (p.Gly472=) c.1578A>T (p.Gly526=) | |
6 | g.6182031T>C | CA448640489 | F13A1 | c.1416A>G (p.Gly472=) c.1578A>G (p.Gly526=) | |
6 | g.6182031T>G | CA448640490 | F13A1 | c.1416A>C (p.Gly472=) c.1578A>C (p.Gly526=) | |
6 | g.6182032C>A | CA362737332 | F13A1 | c.1415G>T (p.Gly472Val) c.1577G>T (p.Gly526Val) | |
6 | g.6182032C>G | CA362737333 | F13A1 | c.1415G>C (p.Gly472Ala) c.1577G>C (p.Gly526Ala) | |
6 | g.6182032C>T | CA362737336 | F13A1 | c.1415G>A (p.Gly472Glu) c.1577G>A (p.Gly526Glu) | |
6 | g.6182033C>A | CA362737338 | F13A1 | c.1414G>T (p.Gly472Ter) c.1576G>T (p.Gly526Ter) | |
6 | g.6182033C>G | CA362737340 | F13A1 | c.1414G>C (p.Gly472Arg) c.1576G>C (p.Gly526Arg) | |
6 | g.6182033C>T | CA362737341 | F13A1 | c.1414G>A (p.Gly472Arg) c.1576G>A (p.Gly526Arg) | |
6 | g.6182034T>A | CA448640491 | F13A1 | c.1413A>T (p.Gly471=) c.1575A>T (p.Gly525=) | |
6 | g.6182034T>C | CA448640493 | F13A1 | c.1413A>G (p.Gly471=) c.1575A>G (p.Gly525=) | |
6 | g.6182034T>G | CA448640492 | F13A1 | c.1413A>C (p.Gly471=) c.1575A>C (p.Gly525=) | |
6 | g.6182035C>A | CA362737343 | F13A1 | c.1412G>T (p.Gly471Val) c.1574G>T (p.Gly525Val) | |
6 | g.6182035C>G | CA362737344 | F13A1 | c.1412G>C (p.Gly471Ala) c.1574G>C (p.Gly525Ala) | |
6 | g.6182035C>T | CA362737345 | F13A1 | c.1412G>A (p.Gly471Glu) c.1574G>A (p.Gly525Glu) | |
6 | g.6182036C>A | CA362737346 | F13A1 | c.1411G>T (p.Gly471Ter) c.1573G>T (p.Gly525Ter) | |
6 | g.6182036C>G | CA362737347 | F13A1 | c.1411G>C (p.Gly471Arg) c.1573G>C (p.Gly525Arg) |