| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154956957_154956965del | CA2695237250 | F8 | c.1745_1752+1del c.*1621_*1628+1del c.1640_1647+1del | |
| X | g.154956964C>A | CA414911615 | F8 | c.1745G>T (p.Gly582Val) c.*1621G>T (n.*1621G>T) c.1640G>T (p.Gly547Val) | |
| X | g.154956964C>G | CA414911616 | F8 | c.1745G>C (p.Gly582Ala) c.*1621G>C (n.*1621G>C) c.1640G>C (p.Gly547Ala) | |
| X | g.154956964C>T | CA414911614 | F8 | c.1745G>A (p.Gly582Glu) c.*1621G>A (n.*1621G>A) c.1640G>A (p.Gly547Glu) | COSMIC COSMIC |
| X | g.154956965C>A | CA414911617 | F8 | c.1744G>T (p.Gly582Ter) c.*1620G>T (n.*1620G>T) c.1639G>T (p.Gly547Ter) | |
| X | g.154956965C>G | CA414911618 | F8 | c.1744G>C (p.Gly582Arg) c.*1620G>C (n.*1620G>C) c.1639G>C (p.Gly547Arg) | |
| X | g.154956965C>T | CA414911619 | F8 | c.1744G>A (p.Gly582Arg) c.*1620G>A (n.*1620G>A) c.1639G>A (p.Gly547Arg) | |
| X | g.154956966T>A | CA414911620 | F8 | c.1743A>T (p.Arg581Ser) c.*1619A>T (n.*1619A>T) c.1638A>T (p.Arg546Ser) | |
| X | g.154956966T>C | CA519358226 | F8 | c.1743A>G (p.Arg581=) c.*1619A>G (n.*1619A>G) c.1638A>G (p.Arg546=) | |
| X | g.154956966T>G | CA414911621 | F8 | c.1743A>C (p.Arg581Ser) c.*1619A>C (n.*1619A>C) c.1638A>C (p.Arg546Ser) | |
| X | g.154956967C>A | CA414911622 | F8 | c.1742G>T (p.Arg581Ile) c.*1618G>T (n.*1618G>T) c.1637G>T (p.Arg546Ile) | COSMIC COSMIC |
| X | g.154956967C>G | CA414911623 | F8 | c.1742G>C (p.Arg581Thr) c.*1618G>C (n.*1618G>C) c.1637G>C (p.Arg546Thr) | gnomAD v4 |
| X | g.154956967C>T | CA414911624 | F8 | c.1742G>A (p.Arg581Lys) c.*1618G>A (n.*1618G>A) c.1637G>A (p.Arg546Lys) | |
| X | g.154956968T>A | CA414911625 | F8 | c.1741A>T (p.Arg581Ter) c.*1617A>T (n.*1617A>T) c.1636A>T (p.Arg546Ter) | |
| X | g.154956968T>C | CA414911626 | F8 | c.1741A>G (p.Arg581Gly) c.*1617A>G (n.*1617A>G) c.1636A>G (p.Arg546Gly) | |
| X | g.154956968T>G | CA519358235 | F8 | c.1741A>C (p.Arg581=) c.*1617A>C (n.*1617A>C) c.1636A>C (p.Arg546=) | |
| X | g.154956969_154956970del | CA2695237252 | F8 | c.1740_1741del (p.Gly582LysfsTer17) c.*1616_*1617del (n.*1616_*1617del) c.1635_1636del (p.Gly547LysfsTer17) | |
| X | g.154956969T>A | CA414911627 | F8 | c.1740A>T (p.Gln580His) c.*1616A>T (n.*1616A>T) c.1635A>T (p.Gln545His) | |
| X | g.154956969T>C | CA519358238 | F8 | c.1740A>G (p.Gln580=) c.*1616A>G (n.*1616A>G) c.1635A>G (p.Gln545=) | |
| X | g.154956969T>G | CA414911628 | F8 | c.1740A>C (p.Gln580His) c.*1616A>C (n.*1616A>C) c.1635A>C (p.Gln545His) | |
| X | g.154956970T>A | CA414911631 | F8 | c.1739A>T (p.Gln580Leu) c.*1615A>T (n.*1615A>T) c.1634A>T (p.Gln545Leu) | |
| X | g.154956970T>C | CA414911629 | F8 | c.1739A>G (p.Gln580Arg) c.*1615A>G (n.*1615A>G) c.1634A>G (p.Gln545Arg) | |
| X | g.154956970T>G | CA414911630 | F8 | c.1739A>C (p.Gln580Pro) c.*1615A>C (n.*1615A>C) c.1634A>C (p.Gln545Pro) | |
| X | g.154956971G>A | CA414911632 | F8 | c.1738C>T (p.Gln580Ter) c.*1614C>T (n.*1614C>T) c.1633C>T (p.Gln545Ter) | |
| X | g.154956971G>C | CA414911633 | F8 | c.1738C>G (p.Gln580Glu) c.*1614C>G (n.*1614C>G) c.1633C>G (p.Gln545Glu) | |
| X | g.154956971G>T | CA414911634 | F8 | c.1738C>A (p.Gln580Lys) c.*1614C>A (n.*1614C>A) c.1633C>A (p.Gln545Lys) | |
| X | g.154956972A>C | CA414911635 | F8 | c.1737T>G (p.Asp579Glu) c.*1613T>G (n.*1613T>G) c.1632T>G (p.Asp544Glu) | |
| X | g.154956972A>G | CA519358248 | F8 | c.1737T>C (p.Asp579=) c.*1613T>C (n.*1613T>C) c.1632T>C (p.Asp544=) | gnomAD v4 |
| X | g.154956972A>T | CA414911636 | F8 | c.1737T>A (p.Asp579Glu) c.*1613T>A (n.*1613T>A) c.1632T>A (p.Asp544Glu) | |
| X | g.154956973T>A | CA414911637 | F8 | c.1736A>T (p.Asp579Val) c.*1612A>T (n.*1612A>T) c.1631A>T (p.Asp544Val) | |
| X | g.154956973T>C | CA414911638 | F8 | c.1736A>G (p.Asp579Gly) c.*1612A>G (n.*1612A>G) c.1631A>G (p.Asp544Gly) | |
| X | g.154956973T>G | CA414911639 | F8 | c.1736A>C (p.Asp579Ala) c.*1612A>C (n.*1612A>C) c.1631A>C (p.Asp544Ala) | |
| X | g.154956974C>A | CA414911640 | F8 | c.1735G>T (p.Asp579Tyr) c.*1611G>T (n.*1611G>T) c.1630G>T (p.Asp544Tyr) | |
| X | g.154956974C>G | CA414911641 | F8 | c.1735G>C (p.Asp579His) c.*1611G>C (n.*1611G>C) c.1630G>C (p.Asp544His) | |
| X | g.154956974C>T | CA414911642 | F8 | c.1735G>A (p.Asp579Asn) c.*1611G>A (n.*1611G>A) c.1630G>A (p.Asp544Asn) | |
| X | g.154956975T>A | CA519358260 | F8 | c.1734A>T (p.Val578=) c.*1610A>T (n.*1610A>T) c.1629A>T (p.Val543=) | |
| X | g.154956975T>C | CA519358262 | F8 | c.1734A>G (p.Val578=) c.*1610A>G (n.*1610A>G) c.1629A>G (p.Val543=) | |
| X | g.154956975T>G | CA519358264 | F8 | c.1734A>C (p.Val578=) c.*1610A>C (n.*1610A>C) c.1629A>C (p.Val543=) | |
| X | g.154956975_154956977delinsTAC | CA2466845305 | F8 | c.1732_1734delinsGTA (p.Val578=) c.*1608_*1610delinsGTA (n.*1608_*1610delinsGTA) c.1627_1629delinsGTA (p.Val543=) | |
| X | g.154956976A>C | CA414911643 | F8 | c.1733T>G (p.Val578Gly) c.*1609T>G (n.*1609T>G) c.1628T>G (p.Val543Gly) | |
| X | g.154956976A>G | CA414911645 | F8 | c.1733T>C (p.Val578Ala) c.*1609T>C (n.*1609T>C) c.1628T>C (p.Val543Ala) | |
| X | g.154956976A>T | CA414911644 | F8 | c.1733T>A (p.Val578Glu) c.*1609T>A (n.*1609T>A) c.1628T>A (p.Val543Glu) | |
| X | g.154956977_154956978del | CA2466845306 | F8 | c.1732_1733del (p.Val578ArgfsTer21) c.*1608_*1609del (n.*1608_*1609del) c.1627_1628del (p.Val543ArgfsTer21) | dbSNP |
| X | g.154956977C>A | CA10568416 | F8 | c.1732G>T (p.Val578Leu) c.*1608G>T (n.*1608G>T) c.1627G>T (p.Val543Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154956977C= | CA2466845307 | F8 | c.1732G= (p.Val578=) c.*1608G= (n.*1608G=) c.1627G= (p.Val543=) | |
| X | g.154956977C>G | CA414911647 | F8 | c.1732G>C (p.Val578Leu) c.*1608G>C (n.*1608G>C) c.1627G>C (p.Val543Leu) | |
| X | g.154956977C>T | CA414911646 | F8 | c.1732G>A (p.Val578Ile) c.*1608G>A (n.*1608G>A) c.1627G>A (p.Val543Ile) | |
| X | g.154956978A>C | CA519358274 | F8 | c.1731T>G (p.Ser577=) c.*1607T>G (n.*1607T>G) c.1626T>G (p.Ser542=) | |
| X | g.154956978A>G | CA519358276 | F8 | c.1731T>C (p.Ser577=) c.*1607T>C (n.*1607T>C) c.1626T>C (p.Ser542=) | |
| X | g.154956978A>T | CA519358278 | F8 | c.1731T>A (p.Ser577=) c.*1607T>A (n.*1607T>A) c.1626T>A (p.Ser542=) |