Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.6182017T>A | CA362737271 | F13A1 | c.1430A>T (p.Asp477Val) c.1592A>T (p.Asp531Val) | |
6 | g.6182017T>C | CA362737272 | F13A1 | c.1430A>G (p.Asp477Gly) c.1592A>G (p.Asp531Gly) | ClinVar |
6 | g.6182017T>G | CA362737274 | F13A1 | c.1430A>C (p.Asp477Ala) c.1592A>C (p.Asp531Ala) | gnomAD v4 |
6 | g.6182018C>A | CA362737276 | F13A1 | c.1429G>T (p.Asp477Tyr) c.1591G>T (p.Asp531Tyr) | |
6 | g.6182018C= | CA1607973385 | F13A1 | c.1429G= (p.Asp477=) c.1591G= (p.Asp531=) | |
6 | g.6182018C>G | CA362737277 | F13A1 | c.1429G>C (p.Asp477His) c.1591G>C (p.Asp531His) | dbSNP |
6 | g.6182018C>T | CA362737280 | F13A1 | c.1429G>A (p.Asp477Asn) c.1591G>A (p.Asp531Asn) | |
6 | g.6182019C>A | CA362737282 | F13A1 | c.1428G>T (p.Met476Ile) c.1590G>T (p.Met530Ile) | |
6 | g.6182019C= | CA1607973386 | F13A1 | c.1428G= (p.Met476=) c.1590G= (p.Met530=) | |
6 | g.6182019C>G | CA362737283 | F13A1 | c.1428G>C (p.Met476Ile) c.1590G>C (p.Met530Ile) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
6 | g.6182019C>T | CA362737285 | F13A1 | c.1428G>A (p.Met476Ile) c.1590G>A (p.Met530Ile) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
6 | g.6182020A= | CA1607973387 | F13A1 | c.1427T= (p.Met476=) c.1589T= (p.Met530=) | |
6 | g.6182020A>C | CA3624356 | F13A1 | c.1427T>G (p.Met476Arg) c.1589T>G (p.Met530Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.6182020A>G | CA362737287 | F13A1 | c.1427T>C (p.Met476Thr) c.1589T>C (p.Met530Thr) | |
6 | g.6182020A>T | CA362737288 | F13A1 | c.1427T>A (p.Met476Lys) c.1589T>A (p.Met530Lys) | |
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) | |
6 | g.6182036C>T | CA362737348 | F13A1 | c.1411G>A (p.Gly471Arg) c.1573G>A (p.Gly525Arg) | ClinVar |
6 | g.6182037A>C | CA362737350 | F13A1 | c.1410T>G (p.Ile470Met) c.1572T>G (p.Ile524Met) | |
6 | g.6182037A>G | CA448640494 | F13A1 | c.1410T>C (p.Ile470=) c.1572T>C (p.Ile524=) | gnomAD v4 |
6 | g.6182037A>T | CA448640495 | F13A1 | c.1410T>A (p.Ile470=) c.1572T>A (p.Ile524=) | |
6 | g.6182038A>C | CA362737352 | F13A1 | c.1409T>G (p.Ile470Ser) c.1571T>G (p.Ile524Ser) | |
6 | g.6182038A>G | CA362737353 | F13A1 | c.1409T>C (p.Ile470Thr) c.1571T>C (p.Ile524Thr) | |
6 | g.6182038A>T | CA362737357 | F13A1 | c.1409T>A (p.Ile470Asn) c.1571T>A (p.Ile524Asn) | |
6 | g.6182038_6182042delinsATTTG | CA1607973391 | F13A1 | c.1405_1409delinsCAAAT (p.Gln469=) c.1567_1571delinsCAAAT (p.Gln523=) | |
6 | g.6182039T>A | CA362737362 | F13A1 | c.1408A>T (p.Ile470Phe) c.1570A>T (p.Ile524Phe) | |
6 | g.6182039T>C | CA362737363 | F13A1 | c.1408A>G (p.Ile470Val) c.1570A>G (p.Ile524Val) | |
6 | g.6182039T>G | CA362737364 | F13A1 | c.1408A>C (p.Ile470Leu) c.1570A>C (p.Ile524Leu) | |
6 | g.6182043_6182046del | CA913184712 | F13A1 | c.1405_1408del (p.Gln469LeufsTer6) c.1567_1570del (p.Gln523LeufsTer6) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.6182040T>A | CA362737366 | F13A1 | c.1407A>T (p.Gln469His) c.1569A>T (p.Gln523His) | |
6 | g.6182040T>C | CA448640497 | F13A1 | c.1407A>G (p.Gln469=) c.1569A>G (p.Gln523=) | |
6 | g.6182040T>G | CA362737367 | F13A1 | c.1407A>C (p.Gln469His) c.1569A>C (p.Gln523His) | |
6 | g.6182041T>A | CA362737369 | F13A1 | c.1406A>T (p.Gln469Leu) c.1568A>T (p.Gln523Leu) | |
6 | g.6182041T>C | CA362737370 | F13A1 | c.1406A>G (p.Gln469Arg) c.1568A>G (p.Gln523Arg) | gnomAD v4 |
6 | g.6182041T>G | CA362737375 | F13A1 | c.1406A>C (p.Gln469Pro) c.1568A>C (p.Gln523Pro) | |
6 | g.6182042G>A | CA362737384 | F13A1 | c.1405C>T (p.Gln469Ter) c.1567C>T (p.Gln523Ter) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.6182042G>C | CA134386667 | F13A1 | c.1405C>G (p.Gln469Glu) c.1567C>G (p.Gln523Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.6182042G= | CA1607973392 | F13A1 | c.1405C= (p.Gln469=) c.1567C= (p.Gln523=) | |
6 | g.6182042G>T | CA3624358 | F13A1 | c.1405C>A (p.Gln469Lys) c.1567C>A (p.Gln523Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.6182043T>A | CA362737385 | F13A1 | c.1404A>T (p.Lys468Asn) c.1566A>T (p.Lys522Asn) | |
6 | g.6182043T>C | CA448640498 | F13A1 | c.1404A>G (p.Lys468=) c.1566A>G (p.Lys522=) | |
6 | g.6182043T>G | CA362737388 | F13A1 | c.1404A>C (p.Lys468Asn) c.1566A>C (p.Lys522Asn) | |
6 | g.6182045dup | CA2677190769 | F13A1 | c.1404dup (p.Gln469ThrfsTer12) c.1566dup (p.Gln523ThrfsTer12) | gnomAD v4 |
6 | g.6182044T>A | CA362737390 | F13A1 | c.1403A>T (p.Lys468Ile) c.1565A>T (p.Lys522Ile) | |
6 | g.6182044T>C | CA134386668 | F13A1 | c.1403A>G (p.Lys468Arg) c.1565A>G (p.Lys522Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.6182044T>G | CA362737393 | F13A1 | c.1403A>C (p.Lys468Thr) c.1565A>C (p.Lys522Thr) | gnomAD v4 |
6 | g.6182044T= | CA1607973393 | F13A1 | c.1403A= (p.Lys468=) c.1565A= (p.Lys522=) | |
6 | g.6182045T>A | CA362737395 | F13A1 | c.1402A>T (p.Lys468Ter) c.1564A>T (p.Lys522Ter) | |
6 | g.6182045T>C | CA362737396 | F13A1 | c.1402A>G (p.Lys468Glu) c.1564A>G (p.Lys522Glu) | |
6 | g.6182045T>G | CA362737397 | F13A1 | c.1402A>C (p.Lys468Gln) c.1564A>C (p.Lys522Gln) | |
6 | g.6182046G>A | CA134386669 | F13A1 | c.1401C>T (p.Thr467=) c.1563C>T (p.Thr521=) | dbSNP gnomAD v4 |
6 | g.6182046G>C | CA448640499 | F13A1 | c.1401C>G (p.Thr467=) c.1563C>G (p.Thr521=) | |
6 | g.6182046G= | CA1607973394 | F13A1 | c.1401C= (p.Thr467=) c.1563C= (p.Thr521=) | |
6 | g.6182046G>T | CA448640500 | F13A1 | c.1401C>A (p.Thr467=) c.1563C>A (p.Thr521=) | |
6 | g.6182047G>A | CA362737398 | F13A1 | c.1400C>T (p.Thr467Ile) c.1562C>T (p.Thr521Ile) | |
6 | g.6182047G>C | CA362737399 | F13A1 | c.1400C>G (p.Thr467Ser) c.1562C>G (p.Thr521Ser) | |
6 | g.6182047G>T | CA362737400 | F13A1 | c.1400C>A (p.Thr467Asn) c.1562C>A (p.Thr521Asn) | |
6 | g.6182048T>A | CA362737404 | F13A1 | c.1399A>T (p.Thr467Ser) c.1561A>T (p.Thr521Ser) | |
6 | g.6182048T>C | CA362737403 | F13A1 | c.1399A>G (p.Thr467Ala) c.1561A>G (p.Thr521Ala) | |
6 | g.6182048T>G | CA362737401 | F13A1 | c.1399A>C (p.Thr467Pro) c.1561A>C (p.Thr521Pro) | |
6 | g.6182049C>A | CA448640501 | F13A1 | c.1398G>T (p.Val466=) c.1560G>T (p.Val520=) | |
6 | g.6182049C>G | CA448640502 | F13A1 | c.1398G>C (p.Val466=) c.1560G>C (p.Val520=) | |
6 | g.6182049C>T | CA448640503 | F13A1 | c.1398G>A (p.Val466=) c.1560G>A (p.Val520=) | |
6 | g.6182050A>C | CA362737406 | F13A1 | c.1397T>G (p.Val466Gly) c.1559T>G (p.Val520Gly) | |
6 | g.6182050A>G | CA362737408 | F13A1 | c.1397T>C (p.Val466Ala) c.1559T>C (p.Val520Ala) | |
6 | g.6182050A>T | CA362737410 | F13A1 | c.1397T>A (p.Val466Glu) c.1559T>A (p.Val520Glu) | |
6 | g.6182051C>A | CA362737411 | F13A1 | c.1396G>T (p.Val466Leu) c.1558G>T (p.Val520Leu) | |
6 | g.6182051C>G | CA362737413 | F13A1 | c.1396G>C (p.Val466Leu) c.1558G>C (p.Val520Leu) | |
6 | g.6182051C>T | CA362737418 | F13A1 | c.1396G>A (p.Val466Met) c.1558G>A (p.Val520Met) | gnomAD v4 |
6 | g.6182052A= | CA1607973395 | F13A1 | c.1395T= (p.Ile465=) c.1557T= (p.Ile519=) | |
6 | g.6182052A>C | CA362737419 | F13A1 | c.1395T>G (p.Ile465Met) c.1557T>G (p.Ile519Met) | |
6 | g.6182052A>G | CA448640504 | F13A1 | c.1395T>C (p.Ile465=) c.1557T>C (p.Ile519=) | |
6 | g.6182052A>T | CA448640505 | F13A1 | c.1395T>A (p.Ile465=) c.1557T>A (p.Ile519=) | dbSNP |
6 | g.6182056_6182059del | CA891866560 | F13A1 | c.1392_1395del (p.Ile465Ter) c.1554_1557del (p.Ile519Ter) | |
6 | g.6182053A= | CA1607973396 | F13A1 | c.1394T= (p.Ile465=) c.1556T= (p.Ile519=) | |
6 | g.6182053A>C | CA362737421 | F13A1 | c.1394T>G (p.Ile465Ser) c.1556T>G (p.Ile519Ser) | |
6 | g.6182053A>G | CA362737423 | F13A1 | c.1394T>C (p.Ile465Thr) c.1556T>C (p.Ile519Thr) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.6182053A>T | CA362737425 | F13A1 | c.1394T>A (p.Ile465Asn) c.1556T>A (p.Ile519Asn) | |
6 | g.6182054T>A | CA362737426 | F13A1 | c.1393A>T (p.Ile465Phe) c.1555A>T (p.Ile519Phe) | |
6 | g.6182054T>C | CA362737427 | F13A1 | c.1393A>G (p.Ile465Val) c.1555A>G (p.Ile519Val) | |
6 | g.6182054T>G | CA362737429 | F13A1 | c.1393A>C (p.Ile465Leu) c.1555A>C (p.Ile519Leu) | |
6 | g.6182055T>A | CA362737432 | F13A1 | c.1392A>T (p.Leu464Phe) c.1554A>T (p.Leu518Phe) | |
6 | g.6182055T>C | CA448640506 | F13A1 | c.1392A>G (p.Leu464=) c.1554A>G (p.Leu518=) | |
6 | g.6182055T>G | CA362737431 | F13A1 | c.1392A>C (p.Leu464Phe) c.1554A>C (p.Leu518Phe) | |
6 | g.6182056A>C | CA362737434 | F13A1 | c.1391T>G (p.Leu464Ter) c.1553T>G (p.Leu518Ter) | |
6 | g.6182056A>G | CA362737439 | F13A1 | c.1391T>C (p.Leu464Ser) c.1553T>C (p.Leu518Ser) | |
6 | g.6182056A>T | CA362737438 | F13A1 | c.1391T>A (p.Leu464Ter) c.1553T>A (p.Leu518Ter) | |
6 | g.6182057A= | CA1607973397 | F13A1 | c.1390T= (p.Leu464=) c.1552T= (p.Leu518=) | |
6 | g.6182057A>C | CA3624359 | F13A1 | c.1390T>G (p.Leu464Val) c.1552T>G (p.Leu518Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.6182057A>G | CA448640507 | F13A1 | c.1390T>C (p.Leu464=) c.1552T>C (p.Leu518=) | |
6 | g.6182057A>T | CA362737440 | F13A1 | c.1390T>A (p.Leu464Ile) c.1552T>A (p.Leu518Ile) | |
6 | g.6182058T>A | CA362737442 | F13A1 | c.1389A>T (p.Lys463Asn) c.1551A>T (p.Lys517Asn) | |
6 | g.6182058T>C | CA448640508 | F13A1 | c.1389A>G (p.Lys463=) c.1551A>G (p.Lys517=) | |
6 | g.6182058T>G | CA362737444 | F13A1 | c.1389A>C (p.Lys463Asn) c.1551A>C (p.Lys517Asn) | |
6 | g.6182059T>A | CA362737446 | F13A1 | c.1388A>T (p.Lys463Ile) c.1550A>T (p.Lys517Ile) | |
6 | g.6182059T>C | CA362737448 | F13A1 | c.1388A>G (p.Lys463Arg) c.1550A>G (p.Lys517Arg) | |
6 | g.6182059T>G | CA362737450 | F13A1 | c.1388A>C (p.Lys463Thr) c.1550A>C (p.Lys517Thr) | |
6 | g.6182060T>A | CA362737451 | F13A1 | c.1387A>T (p.Lys463Ter) c.1549A>T (p.Lys517Ter) | COSMIC |
6 | g.6182060T>C | CA362737453 | F13A1 | c.1387A>G (p.Lys463Glu) c.1549A>G (p.Lys517Glu) | |
6 | g.6182060T>G | CA362737454 | F13A1 | c.1387A>C (p.Lys463Gln) c.1549A>C (p.Lys517Gln) | |
6 | g.6182061C>A | CA448640509 | F13A1 | c.1386G>T (p.Gly462=) c.1548G>T (p.Gly516=) | COSMIC |
6 | g.6182061C= | CA1607973398 | F13A1 | c.1386G= (p.Gly462=) c.1548G= (p.Gly516=) | |
6 | g.6182061C>G | CA448640511 | F13A1 | c.1386G>C (p.Gly462=) c.1548G>C (p.Gly516=) | |
6 | g.6182061C>T | CA448640510 | F13A1 | c.1386G>A (p.Gly462=) c.1548G>A (p.Gly516=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.6182062C>A | CA362737459 | F13A1 | c.1385G>T (p.Gly462Val) c.1547G>T (p.Gly516Val) | COSMIC |
6 | g.6182062C>G | CA362737458 | F13A1 | c.1385G>C (p.Gly462Ala) c.1547G>C (p.Gly516Ala) | |
6 | g.6182062C>T | CA362737456 | F13A1 | c.1385G>A (p.Gly462Glu) c.1547G>A (p.Gly516Glu) | gnomAD v4 |
6 | g.6182063C>A | CA362737464 | F13A1 | c.1384G>T (p.Gly462Trp) c.1546G>T (p.Gly516Trp) | COSMIC |
6 | g.6182063C>G | CA362737466 | F13A1 | c.1384G>C (p.Gly462Arg) c.1546G>C (p.Gly516Arg) | |
6 | g.6182063C>T | CA362737467 | F13A1 | c.1384G>A (p.Gly462Arg) c.1546G>A (p.Gly516Arg) | gnomAD v4 |
6 | g.6182064A>C | CA362737468 | F13A1 | c.1383T>G (p.Ile461Met) c.1545T>G (p.Ile515Met) | |
6 | g.6182064A>G | CA448640512 | F13A1 | c.1383T>C (p.Ile461=) c.1545T>C (p.Ile515=) | |
6 | g.6182064A>T | CA448640513 | F13A1 | c.1383T>A (p.Ile461=) c.1545T>A (p.Ile515=) | |
6 | g.6182065A= | CA1607973399 | F13A1 | c.1382T= (p.Ile461=) c.1544T= (p.Ile515=) | |
6 | g.6182065A>C | CA362737470 | F13A1 | c.1382T>G (p.Ile461Ser) c.1544T>G (p.Ile515Ser) | dbSNP |
6 | g.6182065A>G | CA3624360 | F13A1 | c.1382T>C (p.Ile461Thr) c.1544T>C (p.Ile515Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.6182065A>T | CA362737471 | F13A1 | c.1382T>A (p.Ile461Asn) c.1544T>A (p.Ile515Asn) | gnomAD v4 |
6 | g.6182066T>A | CA362737474 | F13A1 | c.1381A>T (p.Ile461Phe) c.1543A>T (p.Ile515Phe) | dbSNP |
6 | g.6182066T>C | CA362737475 | F13A1 | c.1381A>G (p.Ile461Val) c.1543A>G (p.Ile515Val) | |
6 | g.6182066T>G | CA362737477 | F13A1 | c.1381A>C (p.Ile461Leu) c.1543A>C (p.Ile515Leu) | |
6 | g.6182066T= | CA1607973400 | F13A1 | c.1381A= (p.Ile461=) c.1543A= (p.Ile515=) | |
6 | g.6182067G>A | CA448640514 | F13A1 | c.1380C>T (p.His460=) c.1542C>T (p.His514=) | dbSNP |
6 | g.6182067G>C | CA362737478 | F13A1 | c.1380C>G (p.His460Gln) c.1542C>G (p.His514Gln) | |
6 | g.6182067G= | CA1607973401 | F13A1 | c.1380C= (p.His460=) c.1542C= (p.His514=) | |
6 | g.6182067G>T | CA362737480 | F13A1 | c.1380C>A (p.His460Gln) c.1542C>A (p.His514Gln) | |
6 | g.6182068T>A | CA362737483 | F13A1 | c.1379A>T (p.His460Leu) c.1541A>T (p.His514Leu) | |
6 | g.6182068T>C | CA362737484 | F13A1 | c.1379A>G (p.His460Arg) c.1541A>G (p.His514Arg) | |
6 | g.6182068T>G | CA362737481 | F13A1 | c.1379A>C (p.His460Pro) c.1541A>C (p.His514Pro) | gnomAD v4 |
6 | g.6182069G>A | CA362737486 | F13A1 | c.1378C>T (p.His460Tyr) c.1540C>T (p.His514Tyr) | |
6 | g.6182069G>C | CA362737488 | F13A1 | c.1378C>G (p.His460Asp) c.1540C>G (p.His514Asp) | |
6 | g.6182069G>T | CA362737489 | F13A1 | c.1378C>A (p.His460Asn) c.1540C>A (p.His514Asn) | COSMIC |
6 | g.6182070G>A | CA448640515 | F13A1 | c.1377C>T (p.Thr459=) c.1539C>T (p.Thr513=) | |
6 | g.6182070G>C | CA448640516 | F13A1 | c.1377C>G (p.Thr459=) c.1539C>G (p.Thr513=) | |
6 | g.6182070G>T | CA448640517 | F13A1 | c.1377C>A (p.Thr459=) c.1539C>A (p.Thr513=) | |
6 | g.6182071G>A | CA362737491 | F13A1 | c.1376C>T (p.Thr459Ile) c.1538C>T (p.Thr513Ile) | gnomAD v4 |
6 | g.6182071G>C | CA362737492 | F13A1 | c.1376C>G (p.Thr459Ser) c.1538C>G (p.Thr513Ser) | |
6 | g.6182071G>T | CA362737494 | F13A1 | c.1376C>A (p.Thr459Asn) c.1538C>A (p.Thr513Asn) | ClinVar |
6 | g.6182072T>A | CA362737496 | F13A1 | c.1375A>T (p.Thr459Ser) c.1537A>T (p.Thr513Ser) | |
6 | g.6182072T>C | CA362737498 | F13A1 | c.1375A>G (p.Thr459Ala) c.1537A>G (p.Thr513Ala) | |
6 | g.6182072T>G | CA362737499 | F13A1 | c.1375A>C (p.Thr459Pro) c.1537A>C (p.Thr513Pro) | |
6 | g.6182073G>A | CA134386670 | F13A1 | c.1374C>T (p.Ala458=) c.1536C>T (p.Ala512=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.6182073G>C | CA448640518 | F13A1 | c.1374C>G (p.Ala458=) c.1536C>G (p.Ala512=) | |
6 | g.6182073G= | CA1607973402 | F13A1 | c.1374C= (p.Ala458=) c.1536C= (p.Ala512=) | |
6 | g.6182073G>T | CA448640519 | F13A1 | c.1374C>A (p.Ala458=) c.1536C>A (p.Ala512=) | |
6 | g.6182074G>A | CA362737501 | F13A1 | c.1373C>T (p.Ala458Val) c.1535C>T (p.Ala512Val) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.6182074G>C | CA362737502 | F13A1 | c.1373C>G (p.Ala458Gly) c.1535C>G (p.Ala512Gly) | |
6 | g.6182074G= | CA1607973403 | F13A1 | c.1373C= (p.Ala458=) c.1535C= (p.Ala512=) | |
6 | g.6182074G>T | CA362737504 | F13A1 | c.1373C>A (p.Ala458Asp) c.1535C>A (p.Ala512Asp) | |
6 | g.6182075C>A | CA362737506 | F13A1 | c.1372G>T (p.Ala458Ser) c.1534G>T (p.Ala512Ser) | |
6 | g.6182075C= | CA1607973404 | F13A1 | c.1372G= (p.Ala458=) c.1534G= (p.Ala512=) | |
6 | g.6182075C>G | CA362737507 | F13A1 | c.1372G>C (p.Ala458Pro) c.1534G>C (p.Ala512Pro) | |
6 | g.6182075C>T | CA3624361 | F13A1 | c.1372G>A (p.Ala458Thr) c.1534G>A (p.Ala512Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.6182076A>C | CA362737508 | F13A1 | c.1371T>G (p.Asp457Glu) c.1533T>G (p.Asp511Glu) | |
6 | g.6182076A>G | CA448640520 | F13A1 | c.1371T>C (p.Asp457=) c.1533T>C (p.Asp511=) | |
6 | g.6182076A>T | CA362737510 | F13A1 | c.1371T>A (p.Asp457Glu) c.1533T>A (p.Asp511Glu) | gnomAD v4 |
6 | g.6182077T>A | CA362737511 | F13A1 | c.1370A>T (p.Asp457Val) c.1532A>T (p.Asp511Val) | |
6 | g.6182077T>C | CA362737513 | F13A1 | c.1370A>G (p.Asp457Gly) c.1532A>G (p.Asp511Gly) | |
6 | g.6182077T>G | CA362737514 | F13A1 | c.1370A>C (p.Asp457Ala) c.1532A>C (p.Asp511Ala) | |
6 | g.6182078C>A | CA362737519 | F13A1 | c.1369G>T (p.Asp457Tyr) c.1531G>T (p.Asp511Tyr) | |
6 | g.6182078C= | CA1607973405 | F13A1 | c.1369G= (p.Asp457=) c.1531G= (p.Asp511=) | |
6 | g.6182078C>G | CA362737515 | F13A1 | c.1369G>C (p.Asp457His) c.1531G>C (p.Asp511His) | |
6 | g.6182078C>T | CA362737517 | F13A1 | c.1369G>A (p.Asp457Asn) c.1531G>A (p.Asp511Asn) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.6182079C>A | CA448640521 | F13A1 | c.1368G>T (p.Val456=) c.1530G>T (p.Val510=) | |
6 | g.6182079C>G | CA448640522 | F13A1 | c.1368G>C (p.Val456=) c.1530G>C (p.Val510=) | |
6 | g.6182079C>T | CA448640523 | F13A1 | c.1368G>A (p.Val456=) c.1530G>A (p.Val510=) | |
6 | g.6182080A>C | CA362737520 | F13A1 | c.1367T>G (p.Val456Gly) c.1529T>G (p.Val510Gly) | |
6 | g.6182080A>G | CA362737522 | F13A1 | c.1367T>C (p.Val456Ala) c.1529T>C (p.Val510Ala) | |
6 | g.6182080A>T | CA362737523 | F13A1 | c.1367T>A (p.Val456Glu) c.1529T>A (p.Val510Glu) | |
6 | g.6182081C>A | CA362737525 | F13A1 | c.1366G>T (p.Val456Leu) c.1528G>T (p.Val510Leu) | |
6 | g.6182081C>G | CA362737527 | F13A1 | c.1366G>C (p.Val456Leu) c.1528G>C (p.Val510Leu) | |
6 | g.6182081C>T | CA362737528 | F13A1 | c.1366G>A (p.Val456Met) c.1528G>A (p.Val510Met) | |
6 | g.6182082A= | CA1607973406 | F13A1 | c.1365T= (p.Asn455=) c.1527T= (p.Asn509=) | |
6 | g.6182082A>C | CA362737531 | F13A1 | c.1365T>G (p.Asn455Lys) c.1527T>G (p.Asn509Lys) | |
6 | g.6182082A>G | CA134386671 | F13A1 | c.1365T>C (p.Asn455=) c.1527T>C (p.Asn509=) | dbSNP gnomAD v4 |
6 | g.6182082A>T | CA362737530 | F13A1 | c.1365T>A (p.Asn455Lys) c.1527T>A (p.Asn509Lys) | |
6 | g.6182083T>A | CA362737536 | F13A1 | c.1364A>T (p.Asn455Ile) c.1526A>T (p.Asn509Ile) | |
6 | g.6182083T>C | CA362737539 | F13A1 | c.1364A>G (p.Asn455Ser) c.1526A>G (p.Asn509Ser) | |
6 | g.6182083T>G | CA362737537 | F13A1 | c.1364A>C (p.Asn455Thr) c.1526A>C (p.Asn509Thr) | |
6 | g.6182084T>A | CA362737540 | F13A1 | c.1363A>T (p.Asn455Tyr) c.1525A>T (p.Asn509Tyr) | |
6 | g.6182084T>C | CA362737542 | F13A1 | c.1363A>G (p.Asn455Asp) c.1525A>G (p.Asn509Asp) | |
6 | g.6182084T>G | CA362737541 | F13A1 | c.1363A>C (p.Asn455His) c.1525A>C (p.Asn509His) | |
6 | g.6182085T>A | CA362737544 | F13A1 | c.1362A>T (p.Glu454Asp) c.1524A>T (p.Glu508Asp) | |
6 | g.6182085T>C | CA448640524 | F13A1 | c.1362A>G (p.Glu454=) c.1524A>G (p.Glu508=) | |
6 | g.6182085T>G | CA362737545 | F13A1 | c.1362A>C (p.Glu454Asp) c.1524A>C (p.Glu508Asp) | |
6 | g.6182086T>A | CA362737547 | F13A1 | c.1361A>T (p.Glu454Val) c.1523A>T (p.Glu508Val) | |
6 | g.6182086T>C | CA362737548 | F13A1 | c.1361A>G (p.Glu454Gly) c.1523A>G (p.Glu508Gly) | |
6 | g.6182086T>G | CA362737550 | F13A1 | c.1361A>C (p.Glu454Ala) c.1523A>C (p.Glu508Ala) | |
6 | g.6182087C>A | CA362737551 | F13A1 | c.1360G>T (p.Glu454Ter) c.1522G>T (p.Glu508Ter) | |
6 | g.6182087C= | CA1607973407 | F13A1 | c.1360G= (p.Glu454=) c.1522G= (p.Glu508=) | |
6 | g.6182087C>G | CA362737553 | F13A1 | c.1360G>C (p.Glu454Gln) c.1522G>C (p.Glu508Gln) | |
6 | g.6182087C>T | CA3624362 | F13A1 | c.1360G>A (p.Glu454Lys) c.1522G>A (p.Glu508Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.6182088C>A | CA448640525 | F13A1 | c.1359G>T (p.Val453=) c.1521G>T (p.Val507=) | |
6 | g.6182088C= | CA1607973408 | F13A1 | c.1359G= (p.Val453=) c.1521G= (p.Val507=) | |
6 | g.6182088C>G | CA448640526 | F13A1 | c.1359G>C (p.Val453=) c.1521G>C (p.Val507=) | |
6 | g.6182088C>T | CA3624363 | F13A1 | c.1359G>A (p.Val453=) c.1521G>A (p.Val507=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.6182089A= | CA1607973409 | F13A1 | c.1358T= (p.Val453=) c.1520T= (p.Val507=) | |
6 | g.6182089A>C | CA3624364 | F13A1 | c.1358T>G (p.Val453Gly) c.1520T>G (p.Val507Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.6182089A>G | CA362737557 | F13A1 | c.1358T>C (p.Val453Ala) c.1520T>C (p.Val507Ala) | |
6 | g.6182089A>T | CA362737556 | F13A1 | c.1358T>A (p.Val453Glu) c.1520T>A (p.Val507Glu) | |
6 | g.6182090C>A | CA362737559 | F13A1 | c.1357G>T (p.Val453Leu) c.1519G>T (p.Val507Leu) | |
6 | g.6182090C>G | CA362737561 | F13A1 | c.1357G>C (p.Val453Leu) c.1519G>C (p.Val507Leu) | |
6 | g.6182090C>T | CA362737563 | F13A1 | c.1357G>A (p.Val453Met) c.1519G>A (p.Val507Met) | |
6 | g.6182091C>A | CA448640527 | F13A1 | c.1356G>T (p.Val452=) c.1518G>T (p.Val506=) | |
6 | g.6182091C>G | CA448640528 | F13A1 | c.1356G>C (p.Val452=) c.1518G>C (p.Val506=) | |
6 | g.6182091C>T | CA448640529 | F13A1 | c.1356G>A (p.Val452=) c.1518G>A (p.Val506=) | gnomAD v4 |
6 | g.6182092A= | CA1607973410 | F13A1 | c.1355T= (p.Val452=) c.1517T= (p.Val506=) | |
6 | g.6182092A>C | CA362737564 | F13A1 | c.1355T>G (p.Val452Gly) c.1517T>G (p.Val506Gly) | |
6 | g.6182092A>G | CA362737566 | F13A1 | c.1355T>C (p.Val452Ala) c.1517T>C (p.Val506Ala) | |
6 | g.6182092A>T | CA3624365 | F13A1 | c.1355T>A (p.Val452Glu) c.1517T>A (p.Val506Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.6182093C>A | CA362737568 | F13A1 | c.1354G>T (p.Val452Leu) c.1516G>T (p.Val506Leu) | COSMIC |
6 | g.6182093C= | CA1607973411 | F13A1 | c.1354G= (p.Val452=) c.1516G= (p.Val506=) | |
6 | g.6182093C>G | CA362737569 | F13A1 | c.1354G>C (p.Val452Leu) c.1516G>C (p.Val506Leu) | |
6 | g.6182093C>T | CA3624366 | F13A1 | c.1354G>A (p.Val452Met) c.1516G>A (p.Val506Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.6182093_6182095delinsCAT | CA1607973412 | F13A1 | c.1352_1354delinsATG (p.His451=) c.1514_1516delinsATG (p.His505=) | |
6 | g.6182094A= | CA1607973413 | F13A1 | c.1353T= (p.His451=) c.1515T= (p.His505=) | |
6 | g.6182094A>C | CA362737572 | F13A1 | c.1353T>G (p.His451Gln) c.1515T>G (p.His505Gln) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.6182094A>G | CA448640530 | F13A1 | c.1353T>C (p.His451=) c.1515T>C (p.His505=) | |
6 | g.6182094A>T | CA362737574 | F13A1 | c.1353T>A (p.His451Gln) c.1515T>A (p.His505Gln) | |
6 | g.6182094_6182095del | CA891842693 | F13A1 | c.1352_1353del (p.His451ArgfsTer29) c.1514_1515del (p.His505ArgfsTer29) | ClinVar dbSNP gnomAD v4 |
6 | g.6182095T>A | CA362737577 | F13A1 | c.1352A>T (p.His451Leu) c.1514A>T (p.His505Leu) | gnomAD v4 |
6 | g.6182095T>C | CA362737579 | F13A1 | c.1352A>G (p.His451Arg) c.1514A>G (p.His505Arg) | |
6 | g.6182095T>G | CA362737576 | F13A1 | c.1352A>C (p.His451Pro) c.1514A>C (p.His505Pro) | |
6 | g.6182096G>A | CA362737581 | F13A1 | c.1351C>T (p.His451Tyr) c.1513C>T (p.His505Tyr) | gnomAD v4 |
6 | g.6182096G>C | CA362737582 | F13A1 | c.1351C>G (p.His451Asp) c.1513C>G (p.His505Asp) | |
6 | g.6182096G>T | CA362737583 | F13A1 | c.1351C>A (p.His451Asn) c.1513C>A (p.His505Asn) | |
6 | g.6182097A>C | CA448640531 | F13A1 | c.1350T>G (p.Thr450=) c.1512T>G (p.Thr504=) | |
6 | g.6182097A>G | CA448640532 | F13A1 | c.1350T>C (p.Thr450=) c.1512T>C (p.Thr504=) | |
6 | g.6182097A>T | CA448640533 | F13A1 | c.1350T>A (p.Thr450=) c.1512T>A (p.Thr504=) | |
6 | g.6182098G>A | CA3624367 | F13A1 | c.1349C>T (p.Thr450Ile) c.1511C>T (p.Thr504Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.6182098G>C | CA362737588 | F13A1 | c.1349C>G (p.Thr450Ser) c.1511C>G (p.Thr504Ser) | |
6 | g.6182098G= | CA1607973414 | F13A1 | c.1349C= (p.Thr450=) c.1511C= (p.Thr504=) | |
6 | g.6182098G>T | CA362737590 | F13A1 | c.1349C>A (p.Thr450Asn) c.1511C>A (p.Thr504Asn) | |
6 | g.6182099T>A | CA362737591 | F13A1 | c.1348A>T (p.Thr450Ser) c.1510A>T (p.Thr504Ser) | |
6 | g.6182099T>C | CA362737593 | F13A1 | c.1348A>G (p.Thr450Ala) c.1510A>G (p.Thr504Ala) | |
6 | g.6182099T>G | CA362737594 | F13A1 | c.1348A>C (p.Thr450Pro) c.1510A>C (p.Thr504Pro) | |
6 | g.6182100G>A | CA448640534 | F13A1 | c.1347C>T (p.Gly449=) c.1509C>T (p.Gly503=) | |
6 | g.6182100G>C | CA448640535 | F13A1 | c.1347C>G (p.Gly449=) c.1509C>G (p.Gly503=) | |
6 | g.6182100G>T | CA448640536 | F13A1 | c.1347C>A (p.Gly449=) c.1509C>A (p.Gly503=) | |
6 | g.6182101C>A | CA362737595 | F13A1 | c.1346G>T (p.Gly449Val) c.1508G>T (p.Gly503Val) | |
6 | g.6182101C= | CA1607973415 | F13A1 | c.1346G= (p.Gly449=) c.1508G= (p.Gly503=) | |
6 | g.6182101C>G | CA362737597 | F13A1 | c.1346G>C (p.Gly449Ala) c.1508G>C (p.Gly503Ala) | ClinVar dbSNP |
6 | g.6182101C>T | CA362737598 | F13A1 | c.1346G>A (p.Gly449Asp) c.1508G>A (p.Gly503Asp) | dbSNP COSMIC |
6 | g.6182102C>A | CA362737603 | F13A1 | c.1345G>T (p.Gly449Cys) c.1507G>T (p.Gly503Cys) | |
6 | g.6182102C= | CA1607973416 | F13A1 | c.1345G= (p.Gly449=) c.1507G= (p.Gly503=) | |
6 | g.6182102C>G | CA362737601 | F13A1 | c.1345G>C (p.Gly449Arg) c.1507G>C (p.Gly503Arg) | |
6 | g.6182102C>T | CA362737602 | F13A1 | c.1345G>A (p.Gly449Ser) c.1507G>A (p.Gly503Ser) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.6182103A= | CA1607973417 | F13A1 | c.1344T= (p.Asp448=) c.1506T= (p.Asp502=) | |
6 | g.6182103A>C | CA362737605 | F13A1 | c.1344T>G (p.Asp448Glu) c.1506T>G (p.Asp502Glu) | |
6 | g.6182103A>G | CA448640537 | F13A1 | c.1344T>C (p.Asp448=) c.1506T>C (p.Asp502=) | dbSNP gnomAD v4 |
6 | g.6182103A>T | CA362737607 | F13A1 | c.1344T>A (p.Asp448Glu) c.1506T>A (p.Asp502Glu) | |
6 | g.6182104T>A | CA362737609 | F13A1 | c.1343A>T (p.Asp448Val) c.1505A>T (p.Asp502Val) | |
6 | g.6182104T>C | CA362737610 | F13A1 | c.1343A>G (p.Asp448Gly) c.1505A>G (p.Asp502Gly) | |
6 | g.6182104T>G | CA362737611 | F13A1 | c.1343A>C (p.Asp448Ala) c.1505A>C (p.Asp502Ala) | |
6 | g.6182105C>A | CA362737613 | F13A1 | c.1342G>T (p.Asp448Tyr) c.1504G>T (p.Asp502Tyr) | |
6 | g.6182105C>G | CA362737615 | F13A1 | c.1342G>C (p.Asp448His) c.1504G>C (p.Asp502His) | |
6 | g.6182105C>T | CA362737617 | F13A1 | c.1342G>A (p.Asp448Asn) c.1504G>A (p.Asp502Asn) | |
6 | g.6182106T>A | CA362737619 | F13A1 | c.1341A>T (p.Lys447Asn) c.1503A>T (p.Lys501Asn) | |
6 | g.6182106T>C | CA448640538 | F13A1 | c.1341A>G (p.Lys447=) c.1503A>G (p.Lys501=) | COSMIC |
6 | g.6182106T>G | CA362737620 | F13A1 | c.1341A>C (p.Lys447Asn) c.1503A>C (p.Lys501Asn) | |
6 | g.6182107T>A | CA362737622 | F13A1 | c.1340A>T (p.Lys447Ile) c.1502A>T (p.Lys501Ile) | |
6 | g.6182107T>C | CA362737624 | F13A1 | c.1340A>G (p.Lys447Arg) c.1502A>G (p.Lys501Arg) | gnomAD v4 |
6 | g.6182107T>G | CA362737625 | F13A1 | c.1340A>C (p.Lys447Thr) c.1502A>C (p.Lys501Thr) | |
6 | g.6182108T>A | CA362737632 | F13A1 | c.1339A>T (p.Lys447Ter) c.1501A>T (p.Lys501Ter) | |
6 | g.6182108T>C | CA362737634 | F13A1 | c.1339A>G (p.Lys447Glu) c.1501A>G (p.Lys501Glu) | |
6 | g.6182108T>G | CA362737627 | F13A1 | c.1339A>C (p.Lys447Gln) c.1501A>C (p.Lys501Gln) | |
6 | g.6182109C>A | CA362737638 | F13A1 | c.1338G>T (p.Lys446Asn) c.1500G>T (p.Lys500Asn) | |
6 | g.6182109C>G | CA362737636 | F13A1 | c.1338G>C (p.Lys446Asn) c.1500G>C (p.Lys500Asn) | |
6 | g.6182109C>T | CA448640539 | F13A1 | c.1338G>A (p.Lys446=) c.1500G>A (p.Lys500=) | |
6 | g.6182110T>A | CA362737640 | F13A1 | c.1337A>T (p.Lys446Met) c.1499A>T (p.Lys500Met) | |
6 | g.6182110T>C | CA362737641 | F13A1 | c.1337A>G (p.Lys446Arg) c.1499A>G (p.Lys500Arg) | |
6 | g.6182110T>G | CA362737642 | F13A1 | c.1337A>C (p.Lys446Thr) c.1499A>C (p.Lys500Thr) | |
6 | g.6182111T>A | CA362737644 | F13A1 | c.1336A>T (p.Lys446Ter) c.1498A>T (p.Lys500Ter) | |
6 | g.6182111T>C | CA3624368 | F13A1 | c.1336A>G (p.Lys446Glu) c.1498A>G (p.Lys500Glu) | dbSNP ExAC gnomAD v4 |
6 | g.6182111T>G | CA362737646 | F13A1 | c.1336A>C (p.Lys446Gln) c.1498A>C (p.Lys500Gln) | |
6 | g.6182111T= | CA1607973418 | F13A1 | c.1336A= (p.Lys446=) c.1498A= (p.Lys500=) | |
6 | g.6182112A>C | CA448640540 | F13A1 | c.1335T>G (p.Ala445=) c.1497T>G (p.Ala499=) | |
6 | g.6182112A>G | CA448640541 | F13A1 | c.1335T>C (p.Ala445=) c.1497T>C (p.Ala499=) | |
6 | g.6182112A>T | CA448640542 | F13A1 | c.1335T>A (p.Ala445=) c.1497T>A (p.Ala499=) | |
6 | g.6182113G>A | CA134386672 | F13A1 | c.1334C>T (p.Ala445Val) c.1496C>T (p.Ala499Val) | dbSNP gnomAD v4 |
6 | g.6182113G>C | CA362737648 | F13A1 | c.1334C>G (p.Ala445Gly) c.1496C>G (p.Ala499Gly) | |
6 | g.6182113G= | CA1607973419 | F13A1 | c.1334C= (p.Ala445=) c.1496C= (p.Ala499=) | |
6 | g.6182113G>T | CA362737649 | F13A1 | c.1334C>A (p.Ala445Asp) c.1496C>A (p.Ala499Asp) | |
6 | g.6182114C>A | CA362737650 | F13A1 | c.1333G>T (p.Ala445Ser) c.1495G>T (p.Ala499Ser) | gnomAD v4 |
6 | g.6182114C>G | CA362737652 | F13A1 | c.1333G>C (p.Ala445Pro) c.1495G>C (p.Ala499Pro) | |
6 | g.6182114C>T | CA362737653 | F13A1 | c.1333G>A (p.Ala445Thr) c.1495G>A (p.Ala499Thr) | |
6 | g.6182115T>A | CA448640543 | F13A1 | c.1332A>T (p.Thr444=) c.1494A>T (p.Thr498=) | |
6 | g.6182115T>C | CA448640544 | F13A1 | c.1332A>G (p.Thr444=) c.1494A>G (p.Thr498=) | |
6 | g.6182115T>G | CA448640545 | F13A1 | c.1332A>C (p.Thr444=) c.1494A>C (p.Thr498=) | |
6 | g.6182116G>A | CA362737655 | F13A1 | c.1331C>T (p.Thr444Ile) c.1493C>T (p.Thr498Ile) | gnomAD v4 |
6 | g.6182116G>C | CA362737658 | F13A1 | c.1331C>G (p.Thr444Arg) c.1493C>G (p.Thr498Arg) | |
6 | g.6182116G>T | CA362737656 | F13A1 | c.1331C>A (p.Thr444Lys) c.1493C>A (p.Thr498Lys) | |
6 | g.6182117T>A | CA362737660 | F13A1 | c.1330A>T (p.Thr444Ser) c.1492A>T (p.Thr498Ser) | |
6 | g.6182117T>C | CA362737661 | F13A1 | c.1330A>G (p.Thr444Ala) c.1492A>G (p.Thr498Ala) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.6182117T>G | CA362737663 | F13A1 | c.1330A>C (p.Thr444Pro) c.1492A>C (p.Thr498Pro) | |
6 | g.6182117T= | CA1607973421 | F13A1 | c.1330A= (p.Thr444=) c.1492A= (p.Thr498=) | |
6 | g.6182117_6182123delinsTAATGTA | CA1607973420 | F13A1 | c.1324_1330delinsTACATTA (p.Tyr442=) c.1486_1492delinsTACATTA (p.Tyr496=) |