Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |