| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154863161G>A | CA255013 | F8 | c.6496C>T (p.Arg2166Ter) c.229C>T (p.Arg77Ter) c.91C>T (p.Arg31Ter) c.6391C>T (p.Arg2131Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.154863161G>C | CA414907560 | F8 | c.6496C>G (p.Arg2166Gly) c.229C>G (p.Arg77Gly) c.91C>G (p.Arg31Gly) c.6391C>G (p.Arg2131Gly) | |
| X | g.154863161G= | CA2466815654 | F8 | c.6496C= (p.Arg2166=) c.229C= (p.Arg77=) c.91C= (p.Arg31=) c.6391C= (p.Arg2131=) | |
| X | g.154863161G>T | CA519357907 | F8 | c.6496C>A (p.Arg2166=) c.229C>A (p.Arg77=) c.91C>A (p.Arg31=) c.6391C>A (p.Arg2131=) | |
| X | g.154863162A>C | CA519357908 | F8 | c.6495T>G (p.Ala2165=) c.228T>G (p.Ala76=) c.90T>G (p.Ala30=) c.6390T>G (p.Ala2130=) | gnomAD v4 |
| X | g.154863162A>G | CA519357909 | F8 | c.6495T>C (p.Ala2165=) c.228T>C (p.Ala76=) c.90T>C (p.Ala30=) c.6390T>C (p.Ala2130=) | |
| X | g.154863162A>T | CA519357910 | F8 | c.6495T>A (p.Ala2165=) c.228T>A (p.Ala76=) c.90T>A (p.Ala30=) c.6390T>A (p.Ala2130=) | |
| X | g.154863163del | CA2695237172 | F8 | c.6494del (p.Ala2165ValfsTer21) c.227del (p.Ala76ValfsTer21) c.89del (p.Ala30ValfsTer21) c.6389del (p.Ala2130ValfsTer21) | |
| X | g.154863163G>A | CA414907578 | F8 | c.6494C>T (p.Ala2165Val) c.227C>T (p.Ala76Val) c.89C>T (p.Ala30Val) c.6389C>T (p.Ala2130Val) | dbSNP COSMIC COSMIC |
| X | g.154863163G>C | CA414907573 | F8 | c.6494C>G (p.Ala2165Gly) c.227C>G (p.Ala76Gly) c.89C>G (p.Ala30Gly) c.6389C>G (p.Ala2130Gly) | |
| X | g.154863163G= | CA2466815655 | F8 | c.6494C= (p.Ala2165=) c.227C= (p.Ala76=) c.89C= (p.Ala30=) c.6389C= (p.Ala2130=) | |
| X | g.154863163G>T | CA414907566 | F8 | c.6494C>A (p.Ala2165Asp) c.227C>A (p.Ala76Asp) c.89C>A (p.Ala30Asp) c.6389C>A (p.Ala2130Asp) | |
| X | g.154863164C>A | CA414907583 | F8 | c.6493G>T (p.Ala2165Ser) c.226G>T (p.Ala76Ser) c.88G>T (p.Ala30Ser) c.6388G>T (p.Ala2130Ser) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154863164C= | CA2466815656 | F8 | c.6493G= (p.Ala2165=) c.226G= (p.Ala76=) c.88G= (p.Ala30=) c.6388G= (p.Ala2130=) | |
| X | g.154863164C>G | CA414907586 | F8 | c.6493G>C (p.Ala2165Pro) c.226G>C (p.Ala76Pro) c.88G>C (p.Ala30Pro) c.6388G>C (p.Ala2130Pro) | |
| X | g.154863164C>T | CA414907588 | F8 | c.6493G>A (p.Ala2165Thr) c.226G>A (p.Ala76Thr) c.88G>A (p.Ala30Thr) c.6388G>A (p.Ala2130Thr) | |
| X | g.154863165A= | CA2466815657 | F8 | c.6492T= (p.Ile2164=) c.225T= (p.Ile75=) c.87T= (p.Ile29=) c.6387T= (p.Ile2129=) | |
| X | g.154863165A>C | CA414907591 | F8 | c.6492T>G (p.Ile2164Met) c.225T>G (p.Ile75Met) c.87T>G (p.Ile29Met) c.6387T>G (p.Ile2129Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154863165A>G | CA519357918 | F8 | c.6492T>C (p.Ile2164=) c.225T>C (p.Ile75=) c.87T>C (p.Ile29=) c.6387T>C (p.Ile2129=) | |
| X | g.154863165A>T | CA519357914 | F8 | c.6492T>A (p.Ile2164=) c.225T>A (p.Ile75=) c.87T>A (p.Ile29=) c.6387T>A (p.Ile2129=) | |
| X | g.154863166A>C | CA414907596 | F8 | c.6491T>G (p.Ile2164Ser) c.224T>G (p.Ile75Ser) c.86T>G (p.Ile29Ser) c.6386T>G (p.Ile2129Ser) | |
| X | g.154863166A>G | CA414907603 | F8 | c.6491T>C (p.Ile2164Thr) c.224T>C (p.Ile75Thr) c.86T>C (p.Ile29Thr) c.6386T>C (p.Ile2129Thr) | |
| X | g.154863166A>T | CA414907608 | F8 | c.6491T>A (p.Ile2164Asn) c.224T>A (p.Ile75Asn) c.86T>A (p.Ile29Asn) c.6386T>A (p.Ile2129Asn) | |
| X | g.154863167T>A | CA414907613 | F8 | c.6490A>T (p.Ile2164Phe) c.223A>T (p.Ile75Phe) c.85A>T (p.Ile29Phe) c.6385A>T (p.Ile2129Phe) | |
| X | g.154863167T>C | CA414907615 | F8 | c.6490A>G (p.Ile2164Val) c.223A>G (p.Ile75Val) c.85A>G (p.Ile29Val) c.6385A>G (p.Ile2129Val) | COSMIC COSMIC |
| X | g.154863167T>G | CA414907622 | F8 | c.6490A>C (p.Ile2164Leu) c.223A>C (p.Ile75Leu) c.85A>C (p.Ile29Leu) c.6385A>C (p.Ile2129Leu) | |
| X | g.154863167T= | CA2466815658 | F8 | c.6490A= (p.Ile2164=) c.223A= (p.Ile75=) c.85A= (p.Ile29=) c.6385A= (p.Ile2129=) | |
| X | g.154863168A>C | CA414907626 | F8 | c.6489T>G (p.Ile2163Met) c.222T>G (p.Ile74Met) c.84T>G (p.Ile28Met) c.6384T>G (p.Ile2128Met) | |
| X | g.154863168A>G | CA519357921 | F8 | c.6489T>C (p.Ile2163=) c.222T>C (p.Ile74=) c.84T>C (p.Ile28=) c.6384T>C (p.Ile2128=) | |
| X | g.154863168A>T | CA519357922 | F8 | c.6489T>A (p.Ile2163=) c.222T>A (p.Ile74=) c.84T>A (p.Ile28=) c.6384T>A (p.Ile2128=) | |
| X | g.154863168_154863169dup | CA2466815659 | F8 | c.6488_6489dup (p.Ile2164LeufsTer23) c.221_222dup (p.Ile75LeufsTer23) c.83_84dup (p.Ile29LeufsTer23) c.6383_6384dup (p.Ile2129LeufsTer23) | dbSNP |
| X | g.154863169del | CA2695237173 | F8 | c.6489del (p.Ile2164LeufsTer22) c.222del (p.Ile75LeufsTer22) c.84del (p.Ile29LeufsTer22) c.6384del (p.Ile2129LeufsTer22) | |
| X | g.154863169A>C | CA414907631 | F8 | c.6488T>G (p.Ile2163Ser) c.221T>G (p.Ile74Ser) c.83T>G (p.Ile28Ser) c.6383T>G (p.Ile2128Ser) | |
| X | g.154863169A>G | CA414907630 | F8 | c.6488T>C (p.Ile2163Thr) c.221T>C (p.Ile74Thr) c.83T>C (p.Ile28Thr) c.6383T>C (p.Ile2128Thr) | |
| X | g.154863169A>T | CA414907629 | F8 | c.6488T>A (p.Ile2163Asn) c.221T>A (p.Ile74Asn) c.83T>A (p.Ile28Asn) c.6383T>A (p.Ile2128Asn) | |
| X | g.154863170T>A | CA414907633 | F8 | c.6487A>T (p.Ile2163Phe) c.220A>T (p.Ile74Phe) c.82A>T (p.Ile28Phe) c.6382A>T (p.Ile2128Phe) | |
| X | g.154863170T>C | CA414907636 | F8 | c.6487A>G (p.Ile2163Val) c.220A>G (p.Ile74Val) c.82A>G (p.Ile28Val) c.6382A>G (p.Ile2128Val) | gnomAD v4 |
| X | g.154863170T>G | CA414907637 | F8 | c.6487A>C (p.Ile2163Leu) c.220A>C (p.Ile74Leu) c.82A>C (p.Ile28Leu) c.6382A>C (p.Ile2128Leu) | |
| X | g.154863171T>A | CA519357931 | F8 | c.6486A>T (p.Pro2162=) c.219A>T (p.Pro73=) c.81A>T (p.Pro27=) c.6381A>T (p.Pro2127=) | |
| X | g.154863171T>C | CA519357935 | F8 | c.6486A>G (p.Pro2162=) c.219A>G (p.Pro73=) c.81A>G (p.Pro27=) c.6381A>G (p.Pro2127=) | |
| X | g.154863171T>G | CA519357940 | F8 | c.6486A>C (p.Pro2162=) c.219A>C (p.Pro73=) c.81A>C (p.Pro27=) c.6381A>C (p.Pro2127=) | |
| X | g.154863171_154863172delinsACATC | CA2695237174 | F8 | c.6485_6486delinsGATGT (p.Pro2162delinsArgCys) c.218_219delinsGATGT (p.Pro73delinsArgCys) c.80_81delinsGATGT (p.Pro27delinsArgCys) c.6380_6381delinsGATGT (p.Pro2127delinsArgCys) | |
| X | g.154863172G>A | CA414907641 | F8 | c.6485C>T (p.Pro2162Leu) c.218C>T (p.Pro73Leu) c.80C>T (p.Pro27Leu) c.6380C>T (p.Pro2127Leu) | ClinVar dbSNP |
| X | g.154863172G>C | CA414907642 | F8 | c.6485C>G (p.Pro2162Arg) c.218C>G (p.Pro73Arg) c.80C>G (p.Pro27Arg) c.6380C>G (p.Pro2127Arg) | |
| X | g.154863172G= | CA2466815660 | F8 | c.6485C= (p.Pro2162=) c.218C= (p.Pro73=) c.80C= (p.Pro27=) c.6380C= (p.Pro2127=) | |
| X | g.154863172G>T | CA414907646 | F8 | c.6485C>A (p.Pro2162Gln) c.218C>A (p.Pro73Gln) c.80C>A (p.Pro27Gln) c.6380C>A (p.Pro2127Gln) | gnomAD v4 |
| X | g.154863173G>A | CA414907653 | F8 | c.6484C>T (p.Pro2162Ser) c.217C>T (p.Pro73Ser) c.79C>T (p.Pro27Ser) c.6379C>T (p.Pro2127Ser) | |
| X | g.154863173G>C | CA414907657 | F8 | c.6484C>G (p.Pro2162Ala) c.217C>G (p.Pro73Ala) c.79C>G (p.Pro27Ala) c.6379C>G (p.Pro2127Ala) | |
| X | g.154863173G>T | CA414907664 | F8 | c.6484C>A (p.Pro2162Thr) c.217C>A (p.Pro73Thr) c.79C>A (p.Pro27Thr) c.6379C>A (p.Pro2127Thr) | |
| X | g.154863174del | CA2579752264 | F8 | c.6483del (p.Pro2162GlnfsTer24) c.216del (p.Pro73GlnfsTer24) c.78del (p.Pro27GlnfsTer24) c.6378del (p.Pro2127GlnfsTer24) |