Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154957062G>A | CA519358613 | F8 | c.1647C>T (p.Thr549=) c.*1523C>T (n.*1523C>T) c.1542C>T (p.Thr514=) | |
X | g.154957062G>C | CA519358614 | F8 | c.1647C>G (p.Thr549=) c.*1523C>G (n.*1523C>G) c.1542C>G (p.Thr514=) | |
X | g.154957062G>T | CA519358616 | F8 | c.1647C>A (p.Thr549=) c.*1523C>A (n.*1523C>A) c.1542C>A (p.Thr514=) | |
X | g.154957063G>A | CA10568425 | F8 | c.1646C>T (p.Thr549Ile) c.*1522C>T (n.*1522C>T) c.1541C>T (p.Thr514Ile) | dbSNP ExAC gnomAD v2 |
X | g.154957063G>C | CA414911844 | F8 | c.1646C>G (p.Thr549Ser) c.*1522C>G (n.*1522C>G) c.1541C>G (p.Thr514Ser) | |
X | g.154957063G= | CA2466845346 | F8 | c.1646C= (p.Thr549=) c.*1522C= (n.*1522C=) c.1541C= (p.Thr514=) | |
X | g.154957063G>T | CA414911846 | F8 | c.1646C>A (p.Thr549Asn) c.*1522C>A (n.*1522C>A) c.1541C>A (p.Thr514Asn) | dbSNP |
X | g.154957064T>A | CA414911850 | F8 | c.1645A>T (p.Thr549Ser) c.*1521A>T (n.*1521A>T) c.1540A>T (p.Thr514Ser) | |
X | g.154957064T>C | CA414911851 | F8 | c.1645A>G (p.Thr549Ala) c.*1521A>G (n.*1521A>G) c.1540A>G (p.Thr514Ala) | |
X | g.154957064T>G | CA414911848 | F8 | c.1645A>C (p.Thr549Pro) c.*1521A>C (n.*1521A>C) c.1540A>C (p.Thr514Pro) | |
X | g.154957065C>A | CA519358622 | F8 | c.1644G>T (p.Leu548=) c.*1520G>T (n.*1520G>T) c.1539G>T (p.Leu513=) | gnomAD v4 |
X | g.154957065C>G | CA519358626 | F8 | c.1644G>C (p.Leu548=) c.*1520G>C (n.*1520G>C) c.1539G>C (p.Leu513=) | |
X | g.154957065C>T | CA519358624 | F8 | c.1644G>A (p.Leu548=) c.*1520G>A (n.*1520G>A) c.1539G>A (p.Leu513=) | |
X | g.154957066A>C | CA414911852 | F8 | c.1643T>G (p.Leu548Arg) c.*1519T>G (n.*1519T>G) c.1538T>G (p.Leu513Arg) | |
X | g.154957066A>G | CA16609330 | F8 | c.1643T>C (p.Leu548Pro) c.*1519T>C (n.*1519T>C) c.1538T>C (p.Leu513Pro) | |
X | g.154957066A>T | CA414911854 | F8 | c.1643T>A (p.Leu548Gln) c.*1519T>A (n.*1519T>A) c.1538T>A (p.Leu513Gln) | |
X | g.154957067G>A | CA519358632 | F8 | c.1642C>T (p.Leu548=) c.*1518C>T (n.*1518C>T) c.1537C>T (p.Leu513=) | |
X | g.154957067G>C | CA414911856 | F8 | c.1642C>G (p.Leu548Val) c.*1518C>G (n.*1518C>G) c.1537C>G (p.Leu513Val) | COSMIC COSMIC |
X | g.154957067G>T | CA414911858 | F8 | c.1642C>A (p.Leu548Met) c.*1518C>A (n.*1518C>A) c.1537C>A (p.Leu513Met) | |
X | g.154957068G>A | CA519358636 | F8 | c.1641C>T (p.Cys547=) c.*1517C>T (n.*1517C>T) c.1536C>T (p.Cys512=) | |
X | g.154957068G>C | CA414911863 | F8 | c.1641C>G (p.Cys547Trp) c.*1517C>G (n.*1517C>G) c.1536C>G (p.Cys512Trp) | |
X | g.154957068G>T | CA414911860 | F8 | c.1641C>A (p.Cys547Ter) c.*1517C>A (n.*1517C>A) c.1536C>A (p.Cys512Ter) | |
X | g.154957069C>A | CA414911866 | F8 | c.1640G>T (p.Cys547Phe) c.*1516G>T (n.*1516G>T) c.1535G>T (p.Cys512Phe) | dbSNP |
X | g.154957069C= | CA2466845347 | F8 | c.1640G= (p.Cys547=) c.*1516G= (n.*1516G=) c.1535G= (p.Cys512=) | |
X | g.154957069C>G | CA414911869 | F8 | c.1640G>C (p.Cys547Ser) c.*1516G>C (n.*1516G>C) c.1535G>C (p.Cys512Ser) | |
X | g.154957069C>T | CA414911871 | F8 | c.1640G>A (p.Cys547Tyr) c.*1516G>A (n.*1516G>A) c.1535G>A (p.Cys512Tyr) | dbSNP |
X | g.154957070A= | CA2466845348 | F8 | c.1639T= (p.Cys547=) c.*1515T= (n.*1515T=) c.1534T= (p.Cys512=) | |
X | g.154957070A>C | CA414911873 | F8 | c.1639T>G (p.Cys547Gly) c.*1515T>G (n.*1515T>G) c.1534T>G (p.Cys512Gly) | |
X | g.154957070A>G | CA414911874 | F8 | c.1639T>C (p.Cys547Arg) c.*1515T>C (n.*1515T>C) c.1534T>C (p.Cys512Arg) | ClinVar dbSNP |
X | g.154957070A>T | CA10568426 | F8 | c.1639T>A (p.Cys547Ser) c.*1515T>A (n.*1515T>A) c.1534T>A (p.Cys512Ser) | dbSNP ExAC |
X | g.154957071C>A | CA519358649 | F8 | c.1638G>T (p.Arg546=) c.*1514G>T (n.*1514G>T) c.1533G>T (p.Arg511=) | |
X | g.154957071C= | CA2466845349 | F8 | c.1638G= (p.Arg546=) c.*1514G= (n.*1514G=) c.1533G= (p.Arg511=) | |
X | g.154957071C>G | CA519358650 | F8 | c.1638G>C (p.Arg546=) c.*1514G>C (n.*1514G>C) c.1533G>C (p.Arg511=) | COSMIC COSMIC |
X | g.154957071C>T | CA519358653 | F8 | c.1638G>A (p.Arg546=) c.*1514G>A (n.*1514G>A) c.1533G>A (p.Arg511=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154957072C>A | CA414911876 | F8 | c.1637G>T (p.Arg546Leu) c.*1513G>T (n.*1513G>T) c.1532G>T (p.Arg511Leu) | |
X | g.154957072C= | CA2466845350 | F8 | c.1637G= (p.Arg546=) c.*1513G= (n.*1513G=) c.1532G= (p.Arg511=) | |
X | g.154957072C>G | CA414911879 | F8 | c.1637G>C (p.Arg546Pro) c.*1513G>C (n.*1513G>C) c.1532G>C (p.Arg511Pro) | |
X | g.154957072C>T | CA10568427 | F8 | c.1637G>A (p.Arg546Gln) c.*1513G>A (n.*1513G>A) c.1532G>A (p.Arg511Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.154957073G>A | CA255112 | F8 | c.1636C>T (p.Arg546Trp) c.*1512C>T (n.*1512C>T) c.1531C>T (p.Arg511Trp) | ClinVar dbSNP gnomAD v4 |
X | g.154957073G>C | CA414911881 | F8 | c.1636C>G (p.Arg546Gly) c.*1512C>G (n.*1512C>G) c.1531C>G (p.Arg511Gly) | |
X | g.154957073G= | CA2466845351 | F8 | c.1636C= (p.Arg546=) c.*1512C= (n.*1512C=) c.1531C= (p.Arg511=) | |
X | g.154957073G>T | CA519358660 | F8 | c.1636C>A (p.Arg546=) c.*1512C>A (n.*1512C>A) c.1531C>A (p.Arg511=) | dbSNP gnomAD v4 |
X | g.154957074A>C | CA519358665 | F8 | c.1635T>G (p.Pro545=) c.*1511T>G (n.*1511T>G) c.1530T>G (p.Pro510=) | |
X | g.154957074A>G | CA519358663 | F8 | c.1635T>C (p.Pro545=) c.*1511T>C (n.*1511T>C) c.1530T>C (p.Pro510=) | |
X | g.154957074A>T | CA519358661 | F8 | c.1635T>A (p.Pro545=) c.*1511T>A (n.*1511T>A) c.1530T>A (p.Pro510=) | COSMIC COSMIC |
X | g.154957075G>A | CA414911884 | F8 | c.1634C>T (p.Pro545Leu) c.*1510C>T (n.*1510C>T) c.1529C>T (p.Pro510Leu) | |
X | g.154957075G>C | CA414911889 | F8 | c.1634C>G (p.Pro545Arg) c.*1510C>G (n.*1510C>G) c.1529C>G (p.Pro510Arg) | |
X | g.154957075G>T | CA414911891 | F8 | c.1634C>A (p.Pro545His) c.*1510C>A (n.*1510C>A) c.1529C>A (p.Pro510His) | |
X | g.154957076del | CA2695237257 | F8 | c.1634del (p.Pro545LeufsTer4) c.*1510del (n.*1510del) c.1529del (p.Pro510LeufsTer4) | |
X | g.154957076G>A | CA414911893 | F8 | c.1633C>T (p.Pro545Ser) c.*1509C>T (n.*1509C>T) c.1528C>T (p.Pro510Ser) | |
X | g.154957076G>C | CA414911894 | F8 | c.1633C>G (p.Pro545Ala) c.*1509C>G (n.*1509C>G) c.1528C>G (p.Pro510Ala) | |
X | g.154957076G>T | CA414911896 | F8 | c.1633C>A (p.Pro545Thr) c.*1509C>A (n.*1509C>A) c.1528C>A (p.Pro510Thr) | |
X | g.154957077A>C | CA414911898 | F8 | c.1632T>G (p.Asp544Glu) c.*1508T>G (n.*1508T>G) c.1527T>G (p.Asp509Glu) | |
X | g.154957077A>G | CA519358672 | F8 | c.1632T>C (p.Asp544=) c.*1508T>C (n.*1508T>C) c.1527T>C (p.Asp509=) | |
X | g.154957077A>T | CA414911899 | F8 | c.1632T>A (p.Asp544Glu) c.*1508T>A (n.*1508T>A) c.1527T>A (p.Asp509Glu) | |
X | g.154957077_154957078del | CA2695237258 | F8 | c.1631_1632del (p.Asp544AlafsTer10) c.*1507_*1508del (n.*1507_*1508del) c.1526_1527del (p.Asp509AlafsTer10) | |
X | g.154957078T>A | CA414911901 | F8 | c.1631A>T (p.Asp544Val) c.*1507A>T (n.*1507A>T) c.1526A>T (p.Asp509Val) | dbSNP |
X | g.154957078T>C | CA414911903 | F8 | c.1631A>G (p.Asp544Gly) c.*1507A>G (n.*1507A>G) c.1526A>G (p.Asp509Gly) | |
X | g.154957078T>G | CA414911902 | F8 | c.1631A>C (p.Asp544Ala) c.*1507A>C (n.*1507A>C) c.1526A>C (p.Asp509Ala) | |
X | g.154957078T= | CA2466845352 | F8 | c.1631A= (p.Asp544=) c.*1507A= (n.*1507A=) c.1526A= (p.Asp509=) | |
X | g.154957079C>A | CA414911904 | F8 | c.1630G>T (p.Asp544Tyr) c.*1506G>T (n.*1506G>T) c.1525G>T (p.Asp509Tyr) | |
X | g.154957079C= | CA2466845353 | F8 | c.1630G= (p.Asp544=) c.*1506G= (n.*1506G=) c.1525G= (p.Asp509=) | |
X | g.154957079C>G | CA414911905 | F8 | c.1630G>C (p.Asp544His) c.*1506G>C (n.*1506G>C) c.1525G>C (p.Asp509His) | |
X | g.154957079C>T | CA255111 | F8 | c.1630G>A (p.Asp544Asn) c.*1506G>A (n.*1506G>A) c.1525G>A (p.Asp509Asn) | ClinVar dbSNP |
X | g.154957080T>A | CA519358683 | F8 | c.1629A>T (p.Ser543=) c.*1505A>T (n.*1505A>T) c.1524A>T (p.Ser508=) | |
X | g.154957080T>C | CA519358684 | F8 | c.1629A>G (p.Ser543=) c.*1505A>G (n.*1505A>G) c.1524A>G (p.Ser508=) | |
X | g.154957080T>G | CA519358687 | F8 | c.1629A>C (p.Ser543=) c.*1505A>C (n.*1505A>C) c.1524A>C (p.Ser508=) | |
X | g.154957081_154957084dup | CA2695237259 | F8 | c.1626_1629dup (p.Asp544IlefsTer12) c.*1502_*1505dup (n.*1502_*1505dup) c.1521_1524dup (p.Asp509IlefsTer12) | |
X | g.154957081G>A | CA414911906 | F8 | c.1628C>T (p.Ser543Leu) c.*1504C>T (n.*1504C>T) c.1523C>T (p.Ser508Leu) | gnomAD v4 |
X | g.154957081G>C | CA414911908 | F8 | c.1628C>G (p.Ser543Ter) c.*1504C>G (n.*1504C>G) c.1523C>G (p.Ser508Ter) | |
X | g.154957081G>T | CA414911907 | F8 | c.1628C>A (p.Ser543Ter) c.*1504C>A (n.*1504C>A) c.1523C>A (p.Ser508Ter) | |
X | g.154957082del | CA2695237260 | F8 | c.1627del (p.Ser543GlnfsTer6) c.*1503del (n.*1503del) c.1522del (p.Ser508GlnfsTer6) | |
X | g.154957082A>C | CA414911909 | F8 | c.1627T>G (p.Ser543Ala) c.*1503T>G (n.*1503T>G) c.1522T>G (p.Ser508Ala) | |
X | g.154957082A>G | CA414911913 | F8 | c.1627T>C (p.Ser543Pro) c.*1503T>C (n.*1503T>C) c.1522T>C (p.Ser508Pro) | |
X | g.154957082A>T | CA414911915 | F8 | c.1627T>A (p.Ser543Thr) c.*1503T>A (n.*1503T>A) c.1522T>A (p.Ser508Thr) | |
X | g.154957083T>A | CA414911916 | F8 | c.1626A>T (p.Lys542Asn) c.*1502A>T (n.*1502A>T) c.1521A>T (p.Lys507Asn) | |
X | g.154957083T>C | CA519358697 | F8 | c.1626A>G (p.Lys542=) c.*1502A>G (n.*1502A>G) c.1521A>G (p.Lys507=) | |
X | g.154957083T>G | CA414911918 | F8 | c.1626A>C (p.Lys542Asn) c.*1502A>C (n.*1502A>C) c.1521A>C (p.Lys507Asn) | |
X | g.154957084T>A | CA414911925 | F8 | c.1625A>T (p.Lys542Ile) c.*1501A>T (n.*1501A>T) c.1520A>T (p.Lys507Ile) | |
X | g.154957084T>C | CA414911926 | F8 | c.1625A>G (p.Lys542Arg) c.*1501A>G (n.*1501A>G) c.1520A>G (p.Lys507Arg) | |
X | g.154957084T>G | CA414911927 | F8 | c.1625A>C (p.Lys542Thr) c.*1501A>C (n.*1501A>C) c.1520A>C (p.Lys507Thr) | |
X | g.154957085T>A | CA414911928 | F8 | c.1624A>T (p.Lys542Ter) c.*1500A>T (n.*1500A>T) c.1519A>T (p.Lys507Ter) | |
X | g.154957085T>C | CA414911930 | F8 | c.1624A>G (p.Lys542Glu) c.*1500A>G (n.*1500A>G) c.1519A>G (p.Lys507Glu) | |
X | g.154957085T>G | CA414911931 | F8 | c.1624A>C (p.Lys542Gln) c.*1500A>C (n.*1500A>C) c.1519A>C (p.Lys507Gln) | |
X | g.154957086A>C | CA519358705 | F8 | c.1623T>G (p.Thr541=) c.*1499T>G (n.*1499T>G) c.1518T>G (p.Thr506=) | |
X | g.154957086A>G | CA519358707 | F8 | c.1623T>C (p.Thr541=) c.*1499T>C (n.*1499T>C) c.1518T>C (p.Thr506=) | |
X | g.154957086A>T | CA519358713 | F8 | c.1623T>A (p.Thr541=) c.*1499T>A (n.*1499T>A) c.1518T>A (p.Thr506=) | |
X | g.154957087G>A | CA414911935 | F8 | c.1622C>T (p.Thr541Ile) c.*1498C>T (n.*1498C>T) c.1517C>T (p.Thr506Ile) | |
X | g.154957087G>C | CA414911933 | F8 | c.1622C>G (p.Thr541Ser) c.*1498C>G (n.*1498C>G) c.1517C>G (p.Thr506Ser) | |
X | g.154957087G>T | CA414911932 | F8 | c.1622C>A (p.Thr541Asn) c.*1498C>A (n.*1498C>A) c.1517C>A (p.Thr506Asn) | |
X | g.154957088T>A | CA337332977 | F8 | c.1621A>T (p.Thr541Ser) c.*1497A>T (n.*1497A>T) c.1516A>T (p.Thr506Ser) | ClinVar dbSNP gnomAD v4 |
X | g.154957088T>C | CA414911938 | F8 | c.1621A>G (p.Thr541Ala) c.*1497A>G (n.*1497A>G) c.1516A>G (p.Thr506Ala) | |
X | g.154957088T>G | CA414911940 | F8 | c.1621A>C (p.Thr541Pro) c.*1497A>C (n.*1497A>C) c.1516A>C (p.Thr506Pro) | dbSNP |
X | g.154957088T= | CA2466845354 | F8 | c.1621A= (p.Thr541=) c.*1497A= (n.*1497A=) c.1516A= (p.Thr506=) | |
X | g.154957089T>A | CA519358721 | F8 | c.1620A>T (p.Pro540=) c.*1496A>T (n.*1496A>T) c.1515A>T (p.Pro505=) | |
X | g.154957089T>C | CA519358723 | F8 | c.1620A>G (p.Pro540=) c.*1496A>G (n.*1496A>G) c.1515A>G (p.Pro505=) | |
X | g.154957089T>G | CA519358725 | F8 | c.1620A>C (p.Pro540=) c.*1496A>C (n.*1496A>C) c.1515A>C (p.Pro505=) | |
X | g.154957090G>A | CA414911942 | F8 | c.1619C>T (p.Pro540Leu) c.*1495C>T (n.*1495C>T) c.1514C>T (p.Pro505Leu) | |
X | g.154957090G>C | CA414911944 | F8 | c.1619C>G (p.Pro540Arg) c.*1495C>G (n.*1495C>G) c.1514C>G (p.Pro505Arg) | |
X | g.154957090G>T | CA414911945 | F8 | c.1619C>A (p.Pro540Gln) c.*1495C>A (n.*1495C>A) c.1514C>A (p.Pro505Gln) | |
X | g.154957091del | CA2695237261 | F8 | c.1619del (p.Pro540GlnfsTer9) c.*1495del (n.*1495del) c.1514del (p.Pro505GlnfsTer9) | |
X | g.154957091G>A | CA414911947 | F8 | c.1618C>T (p.Pro540Ser) c.*1494C>T (n.*1494C>T) c.1513C>T (p.Pro505Ser) | dbSNP |
X | g.154957091G>C | CA414911948 | F8 | c.1618C>G (p.Pro540Ala) c.*1494C>G (n.*1494C>G) c.1513C>G (p.Pro505Ala) | |
X | g.154957091G= | CA2466845355 | F8 | c.1618C= (p.Pro540=) c.*1494C= (n.*1494C=) c.1513C= (p.Pro505=) | |
X | g.154957091G>T | CA414911950 | F8 | c.1618C>A (p.Pro540Thr) c.*1494C>A (n.*1494C>A) c.1513C>A (p.Pro505Thr) | |
X | g.154957092C>A | CA519358733 | F8 | c.1617G>T (p.Gly539=) c.*1493G>T (n.*1493G>T) c.1512G>T (p.Gly504=) | |
X | g.154957092C>G | CA519358734 | F8 | c.1617G>C (p.Gly539=) c.*1493G>C (n.*1493G>C) c.1512G>C (p.Gly504=) | |
X | g.154957092C>T | CA519358736 | F8 | c.1617G>A (p.Gly539=) c.*1493G>A (n.*1493G>A) c.1512G>A (p.Gly504=) | |
X | g.154957093_154957094del | CA2579744705 | F8 | c.1616_1617del (p.Gly539AlafsTer3) c.*1492_*1493del (n.*1492_*1493del) c.1511_1512del (p.Gly504AlafsTer3) | |
X | g.154957093C>A | CA414911951 | F8 | c.1616G>T (p.Gly539Val) c.*1492G>T (n.*1492G>T) c.1511G>T (p.Gly504Val) | |
X | g.154957093C>G | CA414911954 | F8 | c.1616G>C (p.Gly539Ala) c.*1492G>C (n.*1492G>C) c.1511G>C (p.Gly504Ala) | |
X | g.154957093C>T | CA414911955 | F8 | c.1616G>A (p.Gly539Glu) c.*1492G>A (n.*1492G>A) c.1511G>A (p.Gly504Glu) | COSMIC COSMIC |
X | g.154957094C>A | CA414911956 | F8 | c.1615G>T (p.Gly539Trp) c.*1491G>T (n.*1491G>T) c.1510G>T (p.Gly504Trp) | |
X | g.154957094C>G | CA414911959 | F8 | c.1615G>C (p.Gly539Arg) c.*1491G>C (n.*1491G>C) c.1510G>C (p.Gly504Arg) | |
X | g.154957094C>T | CA414911958 | F8 | c.1615G>A (p.Gly539Arg) c.*1491G>A (n.*1491G>A) c.1510G>A (p.Gly504Arg) | |
X | g.154957095A>C | CA414911960 | F8 | c.1614T>G (p.Asp538Glu) c.*1490T>G (n.*1490T>G) c.1509T>G (p.Asp503Glu) | |
X | g.154957095A>G | CA519358747 | F8 | c.1614T>C (p.Asp538=) c.*1490T>C (n.*1490T>C) c.1509T>C (p.Asp503=) | |
X | g.154957095A>T | CA414911961 | F8 | c.1614T>A (p.Asp538Glu) c.*1490T>A (n.*1490T>A) c.1509T>A (p.Asp503Glu) | |
X | g.154957096T>A | CA414911963 | F8 | c.1613A>T (p.Asp538Val) c.*1489A>T (n.*1489A>T) c.1508A>T (p.Asp503Val) | gnomAD v4 |
X | g.154957096T>C | CA414911964 | F8 | c.1613A>G (p.Asp538Gly) c.*1489A>G (n.*1489A>G) c.1508A>G (p.Asp503Gly) | |
X | g.154957096T>G | CA414911966 | F8 | c.1613A>C (p.Asp538Ala) c.*1489A>C (n.*1489A>C) c.1508A>C (p.Asp503Ala) | |
X | g.154957097C>A | CA414911968 | F8 | c.1612G>T (p.Asp538Tyr) c.*1488G>T (n.*1488G>T) c.1507G>T (p.Asp503Tyr) | |
X | g.154957097C= | CA2466845356 | F8 | c.1612G= (p.Asp538=) c.*1488G= (n.*1488G=) c.1507G= (p.Asp503=) | |
X | g.154957097C>G | CA414911970 | F8 | c.1612G>C (p.Asp538His) c.*1488G>C (n.*1488G>C) c.1507G>C (p.Asp503His) | |
X | g.154957097C>T | CA414911972 | F8 | c.1612G>A (p.Asp538Asn) c.*1488G>A (n.*1488G>A) c.1507G>A (p.Asp503Asn) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154957098T>A | CA414911973 | F8 | c.1611A>T (p.Glu537Asp) c.*1487A>T (n.*1487A>T) c.1506A>T (p.Glu502Asp) | |
X | g.154957098T>C | CA519358757 | F8 | c.1611A>G (p.Glu537=) c.*1487A>G (n.*1487A>G) c.1506A>G (p.Glu502=) | gnomAD v4 |
X | g.154957098T>G | CA414911974 | F8 | c.1611A>C (p.Glu537Asp) c.*1487A>C (n.*1487A>C) c.1506A>C (p.Glu502Asp) | |
X | g.154957099T>A | CA414911978 | F8 | c.1610A>T (p.Glu537Val) c.*1486A>T (n.*1486A>T) c.1505A>T (p.Glu502Val) | |
X | g.154957099T>C | CA414911975 | F8 | c.1610A>G (p.Glu537Gly) c.*1486A>G (n.*1486A>G) c.1505A>G (p.Glu502Gly) | |
X | g.154957099T>G | CA414911977 | F8 | c.1610A>C (p.Glu537Ala) c.*1486A>C (n.*1486A>C) c.1505A>C (p.Glu502Ala) | |
X | g.154957100C>A | CA414911979 | F8 | c.1609G>T (p.Glu537Ter) c.*1485G>T (n.*1485G>T) c.1504G>T (p.Glu502Ter) | |
X | g.154957100C>G | CA414911981 | F8 | c.1609G>C (p.Glu537Gln) c.*1485G>C (n.*1485G>C) c.1504G>C (p.Glu502Gln) | |
X | g.154957100C>T | CA414911982 | F8 | c.1609G>A (p.Glu537Lys) c.*1485G>A (n.*1485G>A) c.1504G>A (p.Glu502Lys) | |
X | g.154957100_154957103delinsAAGCATCATG | CA2695237262 | F8 | c.1606_1609delinsCATGATGCTT (p.Val536HisfsTer4) c.*1482_*1485delinsCATGATGCTT (n.*1482_*1485delinsCATGATGCTT) c.1501_1504delinsCATGATGCTT (p.Val501HisfsTer4) | |
X | g.154957101T>A | CA519358781 | F8 | c.1608A>T (p.Val536=) c.*1484A>T (n.*1484A>T) c.1503A>T (p.Val501=) | |
X | g.154957101T>C | CA519358779 | F8 | c.1608A>G (p.Val536=) c.*1484A>G (n.*1484A>G) c.1503A>G (p.Val501=) | gnomAD v4 |
X | g.154957101T>G | CA519358777 | F8 | c.1608A>C (p.Val536=) c.*1484A>C (n.*1484A>C) c.1503A>C (p.Val501=) | |
X | g.154957102A>C | CA414911984 | F8 | c.1607T>G (p.Val536Gly) c.*1483T>G (n.*1483T>G) c.1502T>G (p.Val501Gly) | |
X | g.154957102A>G | CA414911985 | F8 | c.1607T>C (p.Val536Ala) c.*1483T>C (n.*1483T>C) c.1502T>C (p.Val501Ala) | gnomAD v4 |
X | g.154957102A>T | CA414911987 | F8 | c.1607T>A (p.Val536Glu) c.*1483T>A (n.*1483T>A) c.1502T>A (p.Val501Glu) | |
X | g.154957103C>A | CA414911989 | F8 | c.1606G>T (p.Val536Leu) c.*1482G>T (n.*1482G>T) c.1501G>T (p.Val501Leu) | |
X | g.154957103C>G | CA414911990 | F8 | c.1606G>C (p.Val536Leu) c.*1482G>C (n.*1482G>C) c.1501G>C (p.Val501Leu) | |
X | g.154957103C>T | CA414911991 | F8 | c.1606G>A (p.Val536Ile) c.*1482G>A (n.*1482G>A) c.1501G>A (p.Val501Ile) | gnomAD v4 |
X | g.154957104del | CA2695237263 | F8 | c.1605del (p.Val536Ter) c.*1481del (n.*1481del) c.1500del (p.Val501Ter) | |
X | g.154957104A>C | CA519358788 | F8 | c.1605T>G (p.Thr535=) c.*1481T>G (n.*1481T>G) c.1500T>G (p.Thr500=) | |
X | g.154957104A>G | CA519358790 | F8 | c.1605T>C (p.Thr535=) c.*1481T>C (n.*1481T>C) c.1500T>C (p.Thr500=) | |
X | g.154957104A>T | CA519358791 | F8 | c.1605T>A (p.Thr535=) c.*1481T>A (n.*1481T>A) c.1500T>A (p.Thr500=) | |
X | g.154957105G>A | CA414911996 | F8 | c.1604C>T (p.Thr535Ile) c.*1480C>T (n.*1480C>T) c.1499C>T (p.Thr500Ile) | dbSNP |
X | g.154957105G>C | CA414911994 | F8 | c.1604C>G (p.Thr535Ser) c.*1480C>G (n.*1480C>G) c.1499C>G (p.Thr500Ser) | |
X | g.154957105G= | CA2466845357 | F8 | c.1604C= (p.Thr535=) c.*1480C= (n.*1480C=) c.1499C= (p.Thr500=) | |
X | g.154957105G>T | CA414911992 | F8 | c.1604C>A (p.Thr535Asn) c.*1480C>A (n.*1480C>A) c.1499C>A (p.Thr500Asn) | |
X | g.154957106T>A | CA414911997 | F8 | c.1603A>T (p.Thr535Ser) c.*1479A>T (n.*1479A>T) c.1498A>T (p.Thr500Ser) | |
X | g.154957106T>C | CA414911998 | F8 | c.1603A>G (p.Thr535Ala) c.*1479A>G (n.*1479A>G) c.1498A>G (p.Thr500Ala) | |
X | g.154957106T>G | CA414912000 | F8 | c.1603A>C (p.Thr535Pro) c.*1479A>C (n.*1479A>C) c.1498A>C (p.Thr500Pro) | |
X | g.154957107C>A | CA519358800 | F8 | c.1602G>T (p.Val534=) c.*1478G>T (n.*1478G>T) c.1497G>T (p.Val499=) | gnomAD v4 |
X | g.154957107C>G | CA519358803 | F8 | c.1602G>C (p.Val534=) c.*1478G>C (n.*1478G>C) c.1497G>C (p.Val499=) | |
X | g.154957107C>T | CA519358802 | F8 | c.1602G>A (p.Val534=) c.*1478G>A (n.*1478G>A) c.1497G>A (p.Val499=) | |
X | g.154957108A= | CA2466845358 | F8 | c.1601T= (p.Val534=) c.*1477T= (n.*1477T=) c.1496T= (p.Val499=) | |
X | g.154957108A>C | CA414912001 | F8 | c.1601T>G (p.Val534Gly) c.*1477T>G (n.*1477T>G) c.1496T>G (p.Val499Gly) | |
X | g.154957108A>G | CA414912004 | F8 | c.1601T>C (p.Val534Ala) c.*1477T>C (n.*1477T>C) c.1496T>C (p.Val499Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.154957108A>T | CA414912006 | F8 | c.1601T>A (p.Val534Glu) c.*1477T>A (n.*1477T>A) c.1496T>A (p.Val499Glu) | |
X | g.154957108_154957130del | CA2695237264 | F8 | c.1579_1601del (p.Ile527AspfsTer8) c.*1455_*1477del (n.*1455_*1477del) c.1474_1496del (p.Ile492AspfsTer8) | |
X | g.154957109C>A | CA414912009 | F8 | c.1600G>T (p.Val534Leu) c.*1476G>T (n.*1476G>T) c.1495G>T (p.Val499Leu) | |
X | g.154957109C= | CA2466845359 | F8 | c.1600G= (p.Val534=) c.*1476G= (n.*1476G=) c.1495G= (p.Val499=) | |
X | g.154957109C>G | CA414912012 | F8 | c.1600G>C (p.Val534Leu) c.*1476G>C (n.*1476G>C) c.1495G>C (p.Val499Leu) | |
X | g.154957109C>T | CA10568428 | F8 | c.1600G>A (p.Val534Met) c.*1476G>A (n.*1476G>A) c.1495G>A (p.Val499Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154957110T>A | CA519358813 | F8 | c.1599A>T (p.Thr533=) c.*1475A>T (n.*1475A>T) c.1494A>T (p.Thr498=) | |
X | g.154957110T>C | CA519358814 | F8 | c.1599A>G (p.Thr533=) c.*1475A>G (n.*1475A>G) c.1494A>G (p.Thr498=) | |
X | g.154957110T>G | CA519358816 | F8 | c.1599A>C (p.Thr533=) c.*1475A>C (n.*1475A>C) c.1494A>C (p.Thr498=) | |
X | g.154957111G>A | CA414912015 | F8 | c.1598C>T (p.Thr533Ile) c.*1474C>T (n.*1474C>T) c.1493C>T (p.Thr498Ile) | |
X | g.154957111G>C | CA414912016 | F8 | c.1598C>G (p.Thr533Arg) c.*1474C>G (n.*1474C>G) c.1493C>G (p.Thr498Arg) | |
X | g.154957111G>T | CA414912018 | F8 | c.1598C>A (p.Thr533Lys) c.*1474C>A (n.*1474C>A) c.1493C>A (p.Thr498Lys) | |
X | g.154957112T>A | CA414912024 | F8 | c.1597A>T (p.Thr533Ser) c.*1473A>T (n.*1473A>T) c.1492A>T (p.Thr498Ser) | |
X | g.154957112T>C | CA414912022 | F8 | c.1597A>G (p.Thr533Ala) c.*1473A>G (n.*1473A>G) c.1492A>G (p.Thr498Ala) | |
X | g.154957112T>G | CA414912020 | F8 | c.1597A>C (p.Thr533Pro) c.*1473A>C (n.*1473A>C) c.1492A>C (p.Thr498Pro) | |
X | g.154957112T= | CA2466845360 | F8 | c.1597A= (p.Thr533=) c.*1473A= (n.*1473A=) c.1492A= (p.Thr498=) | |
X | g.154957113C>A | CA414912038 | F8 | c.1596G>T (p.Trp532Cys) c.*1472G>T (n.*1472G>T) c.1491G>T (p.Trp497Cys) | |
X | g.154957113C>G | CA414912042 | F8 | c.1596G>C (p.Trp532Cys) c.*1472G>C (n.*1472G>C) c.1491G>C (p.Trp497Cys) | |
X | g.154957113C>T | CA414912044 | F8 | c.1596G>A (p.Trp532Ter) c.*1472G>A (n.*1472G>A) c.1491G>A (p.Trp497Ter) | |
X | g.154957114dup | CA255110 | F8 | c.1596dup (p.Thr533AspfsTer10) c.*1472dup (n.*1472dup) c.1491dup (p.Thr498AspfsTer10) | ClinVar dbSNP |
X | g.154957114C>A | CA414912046 | F8 | c.1595G>T (p.Trp532Leu) c.*1471G>T (n.*1471G>T) c.1490G>T (p.Trp497Leu) | |
X | g.154957114C>G | CA414912051 | F8 | c.1595G>C (p.Trp532Ser) c.*1471G>C (n.*1471G>C) c.1490G>C (p.Trp497Ser) | |
X | g.154957114C>T | CA414912060 | F8 | c.1595G>A (p.Trp532Ter) c.*1471G>A (n.*1471G>A) c.1490G>A (p.Trp497Ter) | |
X | g.154957115A= | CA2466845361 | F8 | c.1594T= (p.Trp532=) c.*1470T= (n.*1470T=) c.1489T= (p.Trp497=) | |
X | g.154957115A>C | CA414912064 | F8 | c.1594T>G (p.Trp532Gly) c.*1470T>G (n.*1470T>G) c.1489T>G (p.Trp497Gly) | |
X | g.154957115A>G | CA414912067 | F8 | c.1594T>C (p.Trp532Arg) c.*1470T>C (n.*1470T>C) c.1489T>C (p.Trp497Arg) | dbSNP |
X | g.154957115A>T | CA414912071 | F8 | c.1594T>A (p.Trp532Arg) c.*1470T>A (n.*1470T>A) c.1489T>A (p.Trp497Arg) | |
X | g.154957116T>A | CA414912074 | F8 | c.1593A>T (p.Lys531Asn) c.*1469A>T (n.*1469A>T) c.1488A>T (p.Lys496Asn) | |
X | g.154957116T>C | CA519358832 | F8 | c.1593A>G (p.Lys531=) c.*1469A>G (n.*1469A>G) c.1488A>G (p.Lys496=) | dbSNP |
X | g.154957116T>G | CA414912076 | F8 | c.1593A>C (p.Lys531Asn) c.*1469A>C (n.*1469A>C) c.1488A>C (p.Lys496Asn) | |
X | g.154957116T= | CA2466845362 | F8 | c.1593A= (p.Lys531=) c.*1469A= (n.*1469A=) c.1488A= (p.Lys496=) | |
X | g.154957117T>A | CA414912080 | F8 | c.1592A>T (p.Lys531Ile) c.*1468A>T (n.*1468A>T) c.1487A>T (p.Lys496Ile) | |
X | g.154957117T>C | CA414912084 | F8 | c.1592A>G (p.Lys531Arg) c.*1468A>G (n.*1468A>G) c.1487A>G (p.Lys496Arg) | |
X | g.154957117T>G | CA414912082 | F8 | c.1592A>C (p.Lys531Thr) c.*1468A>C (n.*1468A>C) c.1487A>C (p.Lys496Thr) | |
X | g.154957118T>A | CA414912086 | F8 | c.1591A>T (p.Lys531Ter) c.*1467A>T (n.*1467A>T) c.1486A>T (p.Lys496Ter) | |
X | g.154957118T>C | CA414912089 | F8 | c.1591A>G (p.Lys531Glu) c.*1467A>G (n.*1467A>G) c.1486A>G (p.Lys496Glu) | |
X | g.154957118T>G | CA414912091 | F8 | c.1591A>C (p.Lys531Gln) c.*1467A>C (n.*1467A>C) c.1486A>C (p.Lys496Gln) | |
X | g.154957119A>C | CA414912095 | F8 | c.1590T>G (p.Tyr530Ter) c.*1466T>G (n.*1466T>G) c.1485T>G (p.Tyr495Ter) | |
X | g.154957119A>G | CA519358842 | F8 | c.1590T>C (p.Tyr530=) c.*1466T>C (n.*1466T>C) c.1485T>C (p.Tyr495=) | |
X | g.154957119A>T | CA414912096 | F8 | c.1590T>A (p.Tyr530Ter) c.*1466T>A (n.*1466T>A) c.1485T>A (p.Tyr495Ter) | |
X | g.154957120T>A | CA414912100 | F8 | c.1589A>T (p.Tyr530Phe) c.*1465A>T (n.*1465A>T) c.1484A>T (p.Tyr495Phe) | |
X | g.154957120T>C | CA414912104 | F8 | c.1589A>G (p.Tyr530Cys) c.*1465A>G (n.*1465A>G) c.1484A>G (p.Tyr495Cys) | ClinVar dbSNP |
X | g.154957120T>G | CA414912105 | F8 | c.1589A>C (p.Tyr530Ser) c.*1465A>C (n.*1465A>C) c.1484A>C (p.Tyr495Ser) | |
X | g.154957120T= | CA2466845363 | F8 | c.1589A= (p.Tyr530=) c.*1465A= (n.*1465A=) c.1484A= (p.Tyr495=) | |
X | g.154957121A>C | CA414912107 | F8 | c.1588T>G (p.Tyr530Asp) c.*1464T>G (n.*1464T>G) c.1483T>G (p.Tyr495Asp) | |
X | g.154957121A>G | CA414912108 | F8 | c.1588T>C (p.Tyr530His) c.*1464T>C (n.*1464T>C) c.1483T>C (p.Tyr495His) | |
X | g.154957121A>T | CA414912111 | F8 | c.1588T>A (p.Tyr530Asn) c.*1464T>A (n.*1464T>A) c.1483T>A (p.Tyr495Asn) | |
X | g.154957121_154957127del | CA2695237265 | F8 | c.1582_1588del (p.Phe528IlefsTer5) c.*1458_*1464del (n.*1458_*1464del) c.1477_1483del (p.Phe493IlefsTer5) | |
X | g.154957122T>A | CA414912116 | F8 | c.1587A>T (p.Lys529Asn) c.*1463A>T (n.*1463A>T) c.1482A>T (p.Lys494Asn) | |
X | g.154957122T>C | CA519358851 | F8 | c.1587A>G (p.Lys529=) c.*1463A>G (n.*1463A>G) c.1482A>G (p.Lys494=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.154957122T>G | CA414912113 | F8 | c.1587A>C (p.Lys529Asn) c.*1463A>C (n.*1463A>C) c.1482A>C (p.Lys494Asn) | |
X | g.154957122T= | CA2466845364 | F8 | c.1587A= (p.Lys529=) c.*1463A= (n.*1463A=) c.1482A= (p.Lys494=) | |
X | g.154957124del | CA2695237266 | F8 | c.1587del (p.Lys529AsnfsTer6) c.*1463del (n.*1463del) c.1482del (p.Lys494AsnfsTer6) | |
X | g.154957123T>A | CA414912119 | F8 | c.1586A>T (p.Lys529Ile) c.*1462A>T (n.*1462A>T) c.1481A>T (p.Lys494Ile) | |
X | g.154957123T>C | CA414912122 | F8 | c.1586A>G (p.Lys529Arg) c.*1462A>G (n.*1462A>G) c.1481A>G (p.Lys494Arg) | |
X | g.154957123T>G | CA414912124 | F8 | c.1586A>C (p.Lys529Thr) c.*1462A>C (n.*1462A>C) c.1481A>C (p.Lys494Thr) | COSMIC COSMIC |
X | g.154957124T>A | CA414912126 | F8 | c.1585A>T (p.Lys529Ter) c.*1461A>T (n.*1461A>T) c.1480A>T (p.Lys494Ter) | |
X | g.154957124T>C | CA414912128 | F8 | c.1585A>G (p.Lys529Glu) c.*1461A>G (n.*1461A>G) c.1480A>G (p.Lys494Glu) | |
X | g.154957124T>G | CA414912130 | F8 | c.1585A>C (p.Lys529Gln) c.*1461A>C (n.*1461A>C) c.1480A>C (p.Lys494Gln) | |
X | g.154957125G>A | CA519358869 | F8 | c.1584C>T (p.Phe528=) c.*1460C>T (n.*1460C>T) c.1479C>T (p.Phe493=) | |
X | g.154957125G>C | CA414912132 | F8 | c.1584C>G (p.Phe528Leu) c.*1460C>G (n.*1460C>G) c.1479C>G (p.Phe493Leu) | |
X | g.154957125G>T | CA414912135 | F8 | c.1584C>A (p.Phe528Leu) c.*1460C>A (n.*1460C>A) c.1479C>A (p.Phe493Leu) | |
X | g.154957126A>C | CA414912137 | F8 | c.1583T>G (p.Phe528Cys) c.*1459T>G (n.*1459T>G) c.1478T>G (p.Phe493Cys) | |
X | g.154957126A>G | CA414912140 | F8 | c.1583T>C (p.Phe528Ser) c.*1459T>C (n.*1459T>C) c.1478T>C (p.Phe493Ser) | |
X | g.154957126A>T | CA414912141 | F8 | c.1583T>A (p.Phe528Tyr) c.*1459T>A (n.*1459T>A) c.1478T>A (p.Phe493Tyr) | |
X | g.154957127A>C | CA414912149 | F8 | c.1582T>G (p.Phe528Val) c.*1458T>G (n.*1458T>G) c.1477T>G (p.Phe493Val) | |
X | g.154957127A>G | CA414912151 | F8 | c.1582T>C (p.Phe528Leu) c.*1458T>C (n.*1458T>C) c.1477T>C (p.Phe493Leu) | gnomAD v4 |
X | g.154957127A>T | CA414912143 | F8 | c.1582T>A (p.Phe528Ile) c.*1458T>A (n.*1458T>A) c.1477T>A (p.Phe493Ile) | |
X | g.154957128T>A | CA519358880 | F8 | c.1581A>T (p.Ile527=) c.*1457A>T (n.*1457A>T) c.1476A>T (p.Ile492=) | |
X | g.154957128T>C | CA10568429 | F8 | c.1581A>G (p.Ile527Met) c.*1457A>G (n.*1457A>G) c.1476A>G (p.Ile492Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154957128T>G | CA519358882 | F8 | c.1581A>C (p.Ile527=) c.*1457A>C (n.*1457A>C) c.1476A>C (p.Ile492=) | |
X | g.154957128T= | CA2466845365 | F8 | c.1581A= (p.Ile527=) c.*1457A= (n.*1457A=) c.1476A= (p.Ile492=) | |
X | g.154957129A>C | CA414912156 | F8 | c.1580T>G (p.Ile527Arg) c.*1456T>G (n.*1456T>G) c.1475T>G (p.Ile492Arg) | |
X | g.154957129A>G | CA414912160 | F8 | c.1580T>C (p.Ile527Thr) c.*1456T>C (n.*1456T>C) c.1475T>C (p.Ile492Thr) | |
X | g.154957129A>T | CA414912158 | F8 | c.1580T>A (p.Ile527Lys) c.*1456T>A (n.*1456T>A) c.1475T>A (p.Ile492Lys) | |
X | g.154957130T>A | CA414912163 | F8 | c.1579A>T (p.Ile527Leu) c.*1455A>T (n.*1455A>T) c.1474A>T (p.Ile492Leu) | |
X | g.154957130T>C | CA414912164 | F8 | c.1579A>G (p.Ile527Val) c.*1455A>G (n.*1455A>G) c.1474A>G (p.Ile492Val) | |
X | g.154957130T>G | CA414912167 | F8 | c.1579A>C (p.Ile527Leu) c.*1455A>C (n.*1455A>C) c.1474A>C (p.Ile492Leu) | |
X | g.154957132del | CA2579744706 | F8 | c.1579del (p.Ile527TyrfsTer8) c.*1455del (n.*1455del) c.1474del (p.Ile492TyrfsTer8) | |
X | g.154957131T>A | CA414912170 | F8 | c.1578A>T (p.Glu526Asp) c.*1454A>T (n.*1454A>T) c.1473A>T (p.Glu491Asp) | |
X | g.154957131T>C | CA519358890 | F8 | c.1578A>G (p.Glu526=) c.*1454A>G (n.*1454A>G) c.1473A>G (p.Glu491=) | |
X | g.154957131T>G | CA414912173 | F8 | c.1578A>C (p.Glu526Asp) c.*1454A>C (n.*1454A>C) c.1473A>C (p.Glu491Asp) | |
X | g.154957132T>A | CA337333012 | F8 | c.1577A>T (p.Glu526Val) c.*1453A>T (n.*1453A>T) c.1472A>T (p.Glu491Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154957132T>C | CA414912177 | F8 | c.1577A>G (p.Glu526Gly) c.*1453A>G (n.*1453A>G) c.1472A>G (p.Glu491Gly) | |
X | g.154957132T>G | CA414912180 | F8 | c.1577A>C (p.Glu526Ala) c.*1453A>C (n.*1453A>C) c.1472A>C (p.Glu491Ala) | |
X | g.154957132T= | CA2466845366 | F8 | c.1577A= (p.Glu526=) c.*1453A= (n.*1453A=) c.1472A= (p.Glu491=) | |
X | g.154957133C>A | CA414912182 | F8 | c.1576G>T (p.Glu526Ter) c.*1452G>T (n.*1452G>T) c.1471G>T (p.Glu491Ter) | COSMIC COSMIC |
X | g.154957133C>G | CA414912185 | F8 | c.1576G>C (p.Glu526Gln) c.*1452G>C (n.*1452G>C) c.1471G>C (p.Glu491Gln) | |
X | g.154957133C>T | CA414912187 | F8 | c.1576G>A (p.Glu526Lys) c.*1452G>A (n.*1452G>A) c.1471G>A (p.Glu491Lys) | gnomAD v4 |
X | g.154957134T>A | CA519358893 | F8 | c.1575A>T (p.Gly525=) c.*1451A>T (n.*1451A>T) c.1470A>T (p.Gly490=) | |
X | g.154957134T>C | CA519358894 | F8 | c.1575A>G (p.Gly525=) c.*1451A>G (n.*1451A>G) c.1470A>G (p.Gly490=) | |
X | g.154957134T>G | CA519358897 | F8 | c.1575A>C (p.Gly525=) c.*1451A>C (n.*1451A>C) c.1470A>C (p.Gly490=) | |
X | g.154957135C>A | CA414912190 | F8 | c.1574G>T (p.Gly525Val) c.*1450G>T (n.*1450G>T) c.1469G>T (p.Gly490Val) | |
X | g.154957135C>G | CA414912188 | F8 | c.1574G>C (p.Gly525Ala) c.*1450G>C (n.*1450G>C) c.1469G>C (p.Gly490Ala) | |
X | g.154957135C>T | CA414912189 | F8 | c.1574G>A (p.Gly525Glu) c.*1450G>A (n.*1450G>A) c.1469G>A (p.Gly490Glu) | |
X | g.154957136C>A | CA414912191 | F8 | c.1573G>T (p.Gly525Ter) c.*1449G>T (n.*1449G>T) c.1468G>T (p.Gly490Ter) | |
X | g.154957136C= | CA2466845367 | F8 | c.1573G= (p.Gly525=) c.*1449G= (n.*1449G=) c.1468G= (p.Gly490=) | |
X | g.154957136C>G | CA414912192 | F8 | c.1573G>C (p.Gly525Arg) c.*1449G>C (n.*1449G>C) c.1468G>C (p.Gly490Arg) | |
X | g.154957136C>T | CA414912194 | F8 | c.1573G>A (p.Gly525Arg) c.*1449G>A (n.*1449G>A) c.1468G>A (p.Gly490Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154957137T>A | CA519358904 | F8 | c.1572A>T (p.Pro524=) c.*1448A>T (n.*1448A>T) c.1467A>T (p.Pro489=) | |
X | g.154957137T>C | CA519358902 | F8 | c.1572A>G (p.Pro524=) c.*1448A>G (n.*1448A>G) c.1467A>G (p.Pro489=) | gnomAD v4 |
X | g.154957137T>G | CA519358900 | F8 | c.1572A>C (p.Pro524=) c.*1448A>C (n.*1448A>C) c.1467A>C (p.Pro489=) | gnomAD v4 |
X | g.154957138G>A | CA414912196 | F8 | c.1571C>T (p.Pro524Leu) c.*1447C>T (n.*1447C>T) c.1466C>T (p.Pro489Leu) | dbSNP |
X | g.154957138G>C | CA414912201 | F8 | c.1571C>G (p.Pro524Arg) c.*1447C>G (n.*1447C>G) c.1466C>G (p.Pro489Arg) | |
X | g.154957138G= | CA2466845368 | F8 | c.1571C= (p.Pro524=) c.*1447C= (n.*1447C=) c.1466C= (p.Pro489=) | |
X | g.154957138G>T | CA414912203 | F8 | c.1571C>A (p.Pro524Gln) c.*1447C>A (n.*1447C>A) c.1466C>A (p.Pro489Gln) | |
X | g.154957139G>A | CA414912205 | F8 | c.1570C>T (p.Pro524Ser) c.*1446C>T (n.*1446C>T) c.1465C>T (p.Pro489Ser) | |
X | g.154957139G>C | CA414912208 | F8 | c.1570C>G (p.Pro524Ala) c.*1446C>G (n.*1446C>G) c.1465C>G (p.Pro489Ala) | gnomAD v4 |
X | g.154957139G>T | CA414912210 | F8 | c.1570C>A (p.Pro524Thr) c.*1446C>A (n.*1446C>A) c.1465C>A (p.Pro489Thr) | |
X | g.154957140C>A | CA10568430 | F8 | c.1569G>T (p.Leu523=) c.*1445G>T (n.*1445G>T) c.1464G>T (p.Leu488=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154957140C= | CA2466845369 | F8 | c.1569G= (p.Leu523=) c.*1445G= (n.*1445G=) c.1464G= (p.Leu488=) | |
X | g.154957140C>G | CA519358924 | F8 | c.1569G>C (p.Leu523=) c.*1445G>C (n.*1445G>C) c.1464G>C (p.Leu488=) | |
X | g.154957140C>T | CA519358927 | F8 | c.1569G>A (p.Leu523=) c.*1445G>A (n.*1445G>A) c.1464G>A (p.Leu488=) | gnomAD v4 |
X | g.154957141A>C | CA414912217 | F8 | c.1568T>G (p.Leu523Arg) c.*1444T>G (n.*1444T>G) c.1463T>G (p.Leu488Arg) | |
X | g.154957141A>G | CA414912214 | F8 | c.1568T>C (p.Leu523Pro) c.*1444T>C (n.*1444T>C) c.1463T>C (p.Leu488Pro) | |
X | g.154957141A>T | CA414912213 | F8 | c.1568T>A (p.Leu523Gln) c.*1444T>A (n.*1444T>A) c.1463T>A (p.Leu488Gln) | |
X | g.154957142G>A | CA519358940 | F8 | c.1567C>T (p.Leu523=) c.*1443C>T (n.*1443C>T) c.1462C>T (p.Leu488=) | |
X | g.154957142G>C | CA414912221 | F8 | c.1567C>G (p.Leu523Val) c.*1443C>G (n.*1443C>G) c.1462C>G (p.Leu488Val) | |
X | g.154957142G>T | CA414912223 | F8 | c.1567C>A (p.Leu523Met) c.*1443C>A (n.*1443C>A) c.1462C>A (p.Leu488Met) | |
X | g.154957143A>C | CA414912226 | F8 | c.1566T>G (p.Ile522Met) c.*1442T>G (n.*1442T>G) c.1461T>G (p.Ile487Met) | |
X | g.154957143A>G | CA519358945 | F8 | c.1566T>C (p.Ile522=) c.*1442T>C (n.*1442T>C) c.1461T>C (p.Ile487=) | |
X | g.154957143A>T | CA519358947 | F8 | c.1566T>A (p.Ile522=) c.*1442T>A (n.*1442T>A) c.1461T>A (p.Ile487=) | gnomAD v4 |
X | g.154957144A>C | CA414912230 | F8 | c.1565T>G (p.Ile522Ser) c.*1441T>G (n.*1441T>G) c.1460T>G (p.Ile487Ser) | |
X | g.154957144A>G | CA414912231 | F8 | c.1565T>C (p.Ile522Thr) c.*1441T>C (n.*1441T>C) c.1460T>C (p.Ile487Thr) | |
X | g.154957144A>T | CA414912234 | F8 | c.1565T>A (p.Ile522Asn) c.*1441T>A (n.*1441T>A) c.1460T>A (p.Ile487Asn) | |
X | g.154957144_154957145delinsTA | CA2695237267 | F8 | c.1564_1565delinsTA (p.Ile522Tyr) c.*1440_*1441delinsTA (n.*1440_*1441delinsTA) c.1459_1460delinsTA (p.Ile487Tyr) | |
X | g.154957145T>A | CA414912237 | F8 | c.1564A>T (p.Ile522Phe) c.*1440A>T (n.*1440A>T) c.1459A>T (p.Ile487Phe) | |
X | g.154957145T>C | CA414912238 | F8 | c.1564A>G (p.Ile522Val) c.*1440A>G (n.*1440A>G) c.1459A>G (p.Ile487Val) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154957145T>G | CA414912240 | F8 | c.1564A>C (p.Ile522Leu) c.*1440A>C (n.*1440A>C) c.1459A>C (p.Ile487Leu) | |
X | g.154957145T= | CA2466845370 | F8 | c.1564A= (p.Ile522=) c.*1440A= (n.*1440A=) c.1459A= (p.Ile487=) | |
X | g.154957146T>A | CA519358959 | F8 | c.1563A>T (p.Pro521=) c.*1439A>T (n.*1439A>T) c.1458A>T (p.Pro486=) | |
X | g.154957146T>C | CA519358961 | F8 | c.1563A>G (p.Pro521=) c.*1439A>G (n.*1439A>G) c.1458A>G (p.Pro486=) | |
X | g.154957146T>G | CA519358963 | F8 | c.1563A>C (p.Pro521=) c.*1439A>C (n.*1439A>C) c.1458A>C (p.Pro486=) | |
X | g.154957147G>A | CA414912242 | F8 | c.1562C>T (p.Pro521Leu) c.*1438C>T (n.*1438C>T) c.1457C>T (p.Pro486Leu) | |
X | g.154957147G>C | CA414912243 | F8 | c.1562C>G (p.Pro521Arg) c.*1438C>G (n.*1438C>G) c.1457C>G (p.Pro486Arg) | |
X | g.154957147G>T | CA414912244 | F8 | c.1562C>A (p.Pro521Gln) c.*1438C>A (n.*1438C>A) c.1457C>A (p.Pro486Gln) | |
X | g.154957148G>A | CA10568431 | F8 | c.1561C>T (p.Pro521Ser) c.*1437C>T (n.*1437C>T) c.1456C>T (p.Pro486Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154957148G>C | CA414912248 | F8 | c.1561C>G (p.Pro521Ala) c.*1437C>G (n.*1437C>G) c.1456C>G (p.Pro486Ala) | |
X | g.154957148G= | CA2466845371 | F8 | c.1561C= (p.Pro521=) c.*1437C= (n.*1437C=) c.1456C= (p.Pro486=) | |
X | g.154957148G>T | CA414912250 | F8 | c.1561C>A (p.Pro521Thr) c.*1437C>A (n.*1437C>A) c.1456C>A (p.Pro486Thr) | gnomAD v4 |
X | g.154957149A>C | CA414912254 | F8 | c.1560T>G (p.Phe520Leu) c.*1436T>G (n.*1436T>G) c.1455T>G (p.Phe485Leu) | |
X | g.154957149A>G | CA519358977 | F8 | c.1560T>C (p.Phe520=) c.*1436T>C (n.*1436T>C) c.1455T>C (p.Phe485=) | |
X | g.154957149A>T | CA414912257 | F8 | c.1560T>A (p.Phe520Leu) c.*1436T>A (n.*1436T>A) c.1455T>A (p.Phe485Leu) | |
X | g.154957152del | CA915940900 | F8 | c.1560del (p.Pro521GlnfsTer14) c.*1436del (n.*1436del) c.1455del (p.Pro486GlnfsTer14) | |
X | g.154957150A>C | CA414912261 | F8 | c.1559T>G (p.Phe520Cys) c.*1435T>G (n.*1435T>G) c.1454T>G (p.Phe485Cys) | |
X | g.154957150A>G | CA414912263 | F8 | c.1559T>C (p.Phe520Ser) c.*1435T>C (n.*1435T>C) c.1454T>C (p.Phe485Ser) | |
X | g.154957150A>T | CA414912266 | F8 | c.1559T>A (p.Phe520Tyr) c.*1435T>A (n.*1435T>A) c.1454T>A (p.Phe485Tyr) | |
X | g.154957151A>C | CA414912267 | F8 | c.1558T>G (p.Phe520Val) c.*1434T>G (n.*1434T>G) c.1453T>G (p.Phe485Val) | |
X | g.154957151A>G | CA414912269 | F8 | c.1558T>C (p.Phe520Leu) c.*1434T>C (n.*1434T>C) c.1453T>C (p.Phe485Leu) | |
X | g.154957151A>T | CA414912271 | F8 | c.1558T>A (p.Phe520Ile) c.*1434T>A (n.*1434T>A) c.1453T>A (p.Phe485Ile) | |
X | g.154957152A>C | CA414912273 | F8 | c.1557T>G (p.Asp519Glu) c.*1433T>G (n.*1433T>G) c.1452T>G (p.Asp484Glu) | |
X | g.154957152A>G | CA519358998 | F8 | c.1557T>C (p.Asp519=) c.*1433T>C (n.*1433T>C) c.1452T>C (p.Asp484=) | COSMIC COSMIC |
X | g.154957152A>T | CA414912276 | F8 | c.1557T>A (p.Asp519Glu) c.*1433T>A (n.*1433T>A) c.1452T>A (p.Asp484Glu) | |
X | g.154957153T>A | CA414912284 | F8 | c.1556A>T (p.Asp519Val) c.*1432A>T (n.*1432A>T) c.1451A>T (p.Asp484Val) | |
X | g.154957153T>C | CA414912282 | F8 | c.1556A>G (p.Asp519Gly) c.*1432A>G (n.*1432A>G) c.1451A>G (p.Asp484Gly) | |
X | g.154957153T>G | CA414912280 | F8 | c.1556A>C (p.Asp519Ala) c.*1432A>C (n.*1432A>C) c.1451A>C (p.Asp484Ala) | |
X | g.154957153_154957154dup | CA2580101847 | F8 | c.1555_1556dup (p.Asp519GlufsTer17) c.*1431_*1432dup (n.*1431_*1432dup) c.1450_1451dup (p.Asp484GlufsTer17) | ClinVar |
X | g.154957154C>A | CA414912287 | F8 | c.1555G>T (p.Asp519Tyr) c.*1431G>T (n.*1431G>T) c.1450G>T (p.Asp484Tyr) | |
X | g.154957154C= | CA2466845372 | F8 | c.1555G= (p.Asp519=) c.*1431G= (n.*1431G=) c.1450G= (p.Asp484=) | |
X | g.154957154C>G | CA414912288 | F8 | c.1555G>C (p.Asp519His) c.*1431G>C (n.*1431G>C) c.1450G>C (p.Asp484His) | |
X | g.154957154C>T | CA10568432 | F8 | c.1555G>A (p.Asp519Asn) c.*1431G>A (n.*1431G>A) c.1450G>A (p.Asp484Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154957155C>A | CA414912293 | F8 | c.1554G>T (p.Lys518Asn) c.*1430G>T (n.*1430G>T) c.1449G>T (p.Lys483Asn) | |
X | g.154957155C>G | CA414912295 | F8 | c.1554G>C (p.Lys518Asn) c.*1430G>C (n.*1430G>C) c.1449G>C (p.Lys483Asn) | |
X | g.154957155C>T | CA519359022 | F8 | c.1554G>A (p.Lys518=) c.*1430G>A (n.*1430G>A) c.1449G>A (p.Lys483=) | |
X | g.154957156T>A | CA414912298 | F8 | c.1553A>T (p.Lys518Met) c.*1429A>T (n.*1429A>T) c.1448A>T (p.Lys483Met) | |
X | g.154957156T>C | CA414912301 | F8 | c.1553A>G (p.Lys518Arg) c.*1429A>G (n.*1429A>G) c.1448A>G (p.Lys483Arg) | |
X | g.154957156T>G | CA414912303 | F8 | c.1553A>C (p.Lys518Thr) c.*1429A>C (n.*1429A>C) c.1448A>C (p.Lys483Thr) | |
X | g.154957157T>A | CA414912306 | F8 | c.1552A>T (p.Lys518Ter) c.*1428A>T (n.*1428A>T) c.1447A>T (p.Lys483Ter) | |
X | g.154957157T>C | CA414912308 | F8 | c.1552A>G (p.Lys518Glu) c.*1428A>G (n.*1428A>G) c.1447A>G (p.Lys483Glu) | |
X | g.154957157T>G | CA414912311 | F8 | c.1552A>C (p.Lys518Gln) c.*1428A>C (n.*1428A>C) c.1447A>C (p.Lys483Gln) | |
X | g.154957158C>A | CA414912320 | F8 | c.1551G>T (p.Leu517Phe) c.*1427G>T (n.*1427G>T) c.1446G>T (p.Leu482Phe) | dbSNP |
X | g.154957158C= | CA2466845373 | F8 | c.1551G= (p.Leu517=) c.*1427G= (n.*1427G=) c.1446G= (p.Leu482=) | |
X | g.154957158C>G | CA414912321 | F8 | c.1551G>C (p.Leu517Phe) c.*1427G>C (n.*1427G>C) c.1446G>C (p.Leu482Phe) | |
X | g.154957158C>T | CA519359038 | F8 | c.1551G>A (p.Leu517=) c.*1427G>A (n.*1427G>A) c.1446G>A (p.Leu482=) | ClinVar dbSNP |
X | g.154957159A= | CA2466845374 | F8 | c.1550T= (p.Leu517=) c.*1426T= (n.*1426T=) c.1445T= (p.Leu482=) | |
X | g.154957159A>C | CA414912335 | F8 | c.1550T>G (p.Leu517Trp) c.*1426T>G (n.*1426T>G) c.1445T>G (p.Leu482Trp) | dbSNP |
X | g.154957159A>G | CA414912323 | F8 | c.1550T>C (p.Leu517Ser) c.*1426T>C (n.*1426T>C) c.1445T>C (p.Leu482Ser) | |
X | g.154957159A>T | CA414912327 | F8 | c.1550T>A (p.Leu517Ter) c.*1426T>A (n.*1426T>A) c.1445T>A (p.Leu482Ter) | |
X | g.154957160A>C | CA414912337 | F8 | c.1549T>G (p.Leu517Val) c.*1425T>G (n.*1425T>G) c.1444T>G (p.Leu482Val) | |
X | g.154957160A>G | CA519359044 | F8 | c.1549T>C (p.Leu517=) c.*1425T>C (n.*1425T>C) c.1444T>C (p.Leu482=) | |
X | g.154957160A>T | CA414912339 | F8 | c.1549T>A (p.Leu517Met) c.*1425T>A (n.*1425T>A) c.1444T>A (p.Leu482Met) | |
X | g.154957161A>C | CA414912342 | F8 | c.1548T>G (p.His516Gln) c.*1424T>G (n.*1424T>G) c.1443T>G (p.His481Gln) | |
X | g.154957161A>G | CA519359051 | F8 | c.1548T>C (p.His516=) c.*1424T>C (n.*1424T>C) c.1443T>C (p.His481=) | |
X | g.154957161A>T | CA414912345 | F8 | c.1548T>A (p.His516Gln) c.*1424T>A (n.*1424T>A) c.1443T>A (p.His481Gln) | |
X | g.154957162T>A | CA414912348 | F8 | c.1547A>T (p.His516Leu) c.*1423A>T (n.*1423A>T) c.1442A>T (p.His481Leu) | |
X | g.154957162T>C | CA414912353 | F8 | c.1547A>G (p.His516Arg) c.*1423A>G (n.*1423A>G) c.1442A>G (p.His481Arg) | |
X | g.154957162T>G | CA414912355 | F8 | c.1547A>C (p.His516Pro) c.*1423A>C (n.*1423A>C) c.1442A>C (p.His481Pro) |