Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154953935_154953952del | CA2695237233 | F8 | c.1844_1861del (p.Pro615_Val620del) c.*1720_*1737del (n.*1720_*1737del) c.1739_1756del (p.Pro580_Val585del) | |
X | g.154953941A= | CA2466844325 | F8 | c.1854T= (p.Ala618=) c.*1730T= (n.*1730T=) c.1749T= (p.Ala583=) | |
X | g.154953941A>C | CA519357742 | F8 | c.1854T>G (p.Ala618=) c.*1730T>G (n.*1730T>G) c.1749T>G (p.Ala583=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154953941A>G | CA519357740 | F8 | c.1854T>C (p.Ala618=) c.*1730T>C (n.*1730T>C) c.1749T>C (p.Ala583=) | |
X | g.154953941A>T | CA519357741 | F8 | c.1854T>A (p.Ala618=) c.*1730T>A (n.*1730T>A) c.1749T>A (p.Ala583=) | |
X | g.154953942G>A | CA414910653 | F8 | c.1853C>T (p.Ala618Val) c.*1729C>T (n.*1729C>T) c.1748C>T (p.Ala583Val) | |
X | g.154953942G>C | CA414910657 | F8 | c.1853C>G (p.Ala618Gly) c.*1729C>G (n.*1729C>G) c.1748C>G (p.Ala583Gly) | |
X | g.154953942G>T | CA414910658 | F8 | c.1853C>A (p.Ala618Asp) c.*1729C>A (n.*1729C>A) c.1748C>A (p.Ala583Asp) | |
X | g.154953943C>A | CA10568391 | F8 | c.1852G>T (p.Ala618Ser) c.*1728G>T (n.*1728G>T) c.1747G>T (p.Ala583Ser) | dbSNP ExAC gnomAD v2 |
X | g.154953943C= | CA2466844326 | F8 | c.1852G= (p.Ala618=) c.*1728G= (n.*1728G=) c.1747G= (p.Ala583=) | |
X | g.154953943C>G | CA414910670 | F8 | c.1852G>C (p.Ala618Pro) c.*1728G>C (n.*1728G>C) c.1747G>C (p.Ala583Pro) | |
X | g.154953943C>T | CA414910666 | F8 | c.1852G>A (p.Ala618Thr) c.*1728G>A (n.*1728G>A) c.1747G>A (p.Ala583Thr) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154953944T>A | CA519357743 | F8 | c.1851A>T (p.Pro617=) c.*1727A>T (n.*1727A>T) c.1746A>T (p.Pro582=) | |
X | g.154953944T>C | CA10568392 | F8 | c.1851A>G (p.Pro617=) c.*1727A>G (n.*1727A>G) c.1746A>G (p.Pro582=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154953944T>G | CA519357744 | F8 | c.1851A>C (p.Pro617=) c.*1727A>C (n.*1727A>C) c.1746A>C (p.Pro582=) | |
X | g.154953944T= | CA2466844327 | F8 | c.1851A= (p.Pro617=) c.*1727A= (n.*1727A=) c.1746A= (p.Pro582=) | |
X | g.154953945G>A | CA414910673 | F8 | c.1850C>T (p.Pro617Leu) c.*1726C>T (n.*1726C>T) c.1745C>T (p.Pro582Leu) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154953945G>C | CA414910676 | F8 | c.1850C>G (p.Pro617Arg) c.*1726C>G (n.*1726C>G) c.1745C>G (p.Pro582Arg) | |
X | g.154953945G= | CA2466844328 | F8 | c.1850C= (p.Pro617=) c.*1726C= (n.*1726C=) c.1745C= (p.Pro582=) | |
X | g.154953945G>T | CA414910679 | F8 | c.1850C>A (p.Pro617Gln) c.*1726C>A (n.*1726C>A) c.1745C>A (p.Pro582Gln) | |
X | g.154953946G>A | CA414910683 | F8 | c.1849C>T (p.Pro617Ser) c.*1725C>T (n.*1725C>T) c.1744C>T (p.Pro582Ser) | gnomAD v4 |
X | g.154953946G>C | CA414910685 | F8 | c.1849C>G (p.Pro617Ala) c.*1725C>G (n.*1725C>G) c.1744C>G (p.Pro582Ala) | gnomAD v4 |
X | g.154953946G>T | CA414910686 | F8 | c.1849C>A (p.Pro617Thr) c.*1725C>A (n.*1725C>A) c.1744C>A (p.Pro582Thr) | |
X | g.154953947A= | CA2466844329 | F8 | c.1848T= (p.Asn616=) c.*1724T= (n.*1724T=) c.1743T= (p.Asn581=) | |
X | g.154953947A>C | CA414910688 | F8 | c.1848T>G (p.Asn616Lys) c.*1724T>G (n.*1724T>G) c.1743T>G (p.Asn581Lys) | |
X | g.154953947A>G | CA519357745 | F8 | c.1848T>C (p.Asn616=) c.*1724T>C (n.*1724T>C) c.1743T>C (p.Asn581=) | ClinVar dbSNP |
X | g.154953947A>T | CA414910691 | F8 | c.1848T>A (p.Asn616Lys) c.*1724T>A (n.*1724T>A) c.1743T>A (p.Asn581Lys) | |
X | g.154953948T>A | CA414910700 | F8 | c.1847A>T (p.Asn616Ile) c.*1723A>T (n.*1723A>T) c.1742A>T (p.Asn581Ile) | |
X | g.154953948T>C | CA10568393 | F8 | c.1847A>G (p.Asn616Ser) c.*1723A>G (n.*1723A>G) c.1742A>G (p.Asn581Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154953948T>G | CA414910697 | F8 | c.1847A>C (p.Asn616Thr) c.*1723A>C (n.*1723A>C) c.1742A>C (p.Asn581Thr) | |
X | g.154953948T= | CA2466844330 | F8 | c.1847A= (p.Asn616=) c.*1723A= (n.*1723A=) c.1742A= (p.Asn581=) | |
X | g.154953949T>A | CA414910702 | F8 | c.1846A>T (p.Asn616Tyr) c.*1722A>T (n.*1722A>T) c.1741A>T (p.Asn581Tyr) | |
X | g.154953949T>C | CA414910705 | F8 | c.1846A>G (p.Asn616Asp) c.*1722A>G (n.*1722A>G) c.1741A>G (p.Asn581Asp) | |
X | g.154953949T>G | CA414910710 | F8 | c.1846A>C (p.Asn616His) c.*1722A>C (n.*1722A>C) c.1741A>C (p.Asn581His) | |
X | g.154953950G>A | CA519357747 | F8 | c.1845C>T (p.Pro615=) c.*1721C>T (n.*1721C>T) c.1740C>T (p.Pro580=) | |
X | g.154953950G>C | CA519357748 | F8 | c.1845C>G (p.Pro615=) c.*1721C>G (n.*1721C>G) c.1740C>G (p.Pro580=) | |
X | g.154953950G>T | CA519357746 | F8 | c.1845C>A (p.Pro615=) c.*1721C>A (n.*1721C>A) c.1740C>A (p.Pro580=) | COSMIC COSMIC |
X | g.154953953del | CA2695237235 | F8 | c.1845del (p.Asn616IlefsTer?) c.*1721del (n.*1721del) c.1740del (p.Asn581IlefsTer?) | |
X | g.154953951G>A | CA414910713 | F8 | c.1844C>T (p.Pro615Leu) c.*1720C>T (n.*1720C>T) c.1739C>T (p.Pro580Leu) | COSMIC COSMIC |
X | g.154953951G>C | CA414910716 | F8 | c.1844C>G (p.Pro615Arg) c.*1720C>G (n.*1720C>G) c.1739C>G (p.Pro580Arg) | |
X | g.154953951G>T | CA414910721 | F8 | c.1844C>A (p.Pro615His) c.*1720C>A (n.*1720C>A) c.1739C>A (p.Pro580His) | |
X | g.154953952G>A | CA414910724 | F8 | c.1843C>T (p.Pro615Ser) c.*1719C>T (n.*1719C>T) c.1738C>T (p.Pro580Ser) | |
X | g.154953952G>C | CA414910725 | F8 | c.1843C>G (p.Pro615Ala) c.*1719C>G (n.*1719C>G) c.1738C>G (p.Pro580Ala) | dbSNP |
X | g.154953952G= | CA2466844331 | F8 | c.1843C= (p.Pro615=) c.*1719C= (n.*1719C=) c.1738C= (p.Pro580=) | |
X | g.154953952G>T | CA414910727 | F8 | c.1843C>A (p.Pro615Thr) c.*1719C>A (n.*1719C>A) c.1738C>A (p.Pro580Thr) | |
X | g.154953953G>A | CA519357750 | F8 | c.1842C>T (p.Leu614=) c.*1718C>T (n.*1718C>T) c.1737C>T (p.Leu579=) | gnomAD v4 |
X | g.154953953G>C | CA519357751 | F8 | c.1842C>G (p.Leu614=) c.*1718C>G (n.*1718C>G) c.1737C>G (p.Leu579=) | |
X | g.154953953G>T | CA519357752 | F8 | c.1842C>A (p.Leu614=) c.*1718C>A (n.*1718C>A) c.1737C>A (p.Leu579=) | |
X | g.154953954A= | CA2466844332 | F8 | c.1841T= (p.Leu614=) c.*1717T= (n.*1717T=) c.1736T= (p.Leu579=) | |
X | g.154953954A>C | CA414910730 | F8 | c.1841T>G (p.Leu614Arg) c.*1717T>G (n.*1717T>G) c.1736T>G (p.Leu579Arg) | dbSNP |