| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154863151C>A | CA414907460 | F8 | c.6506G>T (p.Arg2169Leu) c.239G>T (p.Arg80Leu) c.101G>T (p.Arg34Leu) c.6401G>T (p.Arg2134Leu) | dbSNP |
| X | g.154863151C= | CA2466815650 | F8 | c.6506G= (p.Arg2169=) c.239G= (p.Arg80=) c.101G= (p.Arg34=) c.6401G= (p.Arg2134=) | |
| X | g.154863151C>G | CA414907465 | F8 | c.6506G>C (p.Arg2169Pro) c.239G>C (p.Arg80Pro) c.101G>C (p.Arg34Pro) c.6401G>C (p.Arg2134Pro) | |
| X | g.154863151C>T | CA255208 | F8 | c.6506G>A (p.Arg2169His) c.239G>A (p.Arg80His) c.101G>A (p.Arg34His) c.6401G>A (p.Arg2134His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154863152G>A | CA10567800 | F8 | c.6505C>T (p.Arg2169Cys) c.238C>T (p.Arg80Cys) c.100C>T (p.Arg34Cys) c.6400C>T (p.Arg2134Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154863152G>C | CA414907471 | F8 | c.6505C>G (p.Arg2169Gly) c.238C>G (p.Arg80Gly) c.100C>G (p.Arg34Gly) c.6400C>G (p.Arg2134Gly) | |
| X | g.154863152G= | CA2466815651 | F8 | c.6505C= (p.Arg2169=) c.238C= (p.Arg80=) c.100C= (p.Arg34=) c.6400C= (p.Arg2134=) | |
| X | g.154863152G>T | CA414907477 | F8 | c.6505C>A (p.Arg2169Ser) c.238C>A (p.Arg80Ser) c.100C>A (p.Arg34Ser) c.6400C>A (p.Arg2134Ser) | |
| X | g.154863153G>A | CA519357895 | F8 | c.6504C>T (p.Ile2168=) c.237C>T (p.Ile79=) c.99C>T (p.Ile33=) c.6399C>T (p.Ile2133=) | |
| X | g.154863153G>C | CA414907482 | F8 | c.6504C>G (p.Ile2168Met) c.237C>G (p.Ile79Met) c.99C>G (p.Ile33Met) c.6399C>G (p.Ile2133Met) | |
| X | g.154863153G>T | CA519357896 | F8 | c.6504C>A (p.Ile2168=) c.237C>A (p.Ile79=) c.99C>A (p.Ile33=) c.6399C>A (p.Ile2133=) | |
| X | g.154863154A>C | CA414907488 | F8 | c.6503T>G (p.Ile2168Ser) c.236T>G (p.Ile79Ser) c.98T>G (p.Ile33Ser) c.6398T>G (p.Ile2133Ser) | |
| X | g.154863154A>G | CA414907491 | F8 | c.6503T>C (p.Ile2168Thr) c.236T>C (p.Ile79Thr) c.98T>C (p.Ile33Thr) c.6398T>C (p.Ile2133Thr) | |
| X | g.154863154A>T | CA414907498 | F8 | c.6503T>A (p.Ile2168Asn) c.236T>A (p.Ile79Asn) c.98T>A (p.Ile33Asn) c.6398T>A (p.Ile2133Asn) | |
| X | g.154863155T>A | CA414907501 | F8 | c.6502A>T (p.Ile2168Phe) c.235A>T (p.Ile79Phe) c.97A>T (p.Ile33Phe) c.6397A>T (p.Ile2133Phe) | gnomAD v4 |
| X | g.154863155T>C | CA414907503 | F8 | c.6502A>G (p.Ile2168Val) c.235A>G (p.Ile79Val) c.97A>G (p.Ile33Val) c.6397A>G (p.Ile2133Val) | gnomAD v4 |
| X | g.154863155T>G | CA414907507 | F8 | c.6502A>C (p.Ile2168Leu) c.235A>C (p.Ile79Leu) c.97A>C (p.Ile33Leu) c.6397A>C (p.Ile2133Leu) | |
| X | g.154863156del | CA2695237170 | F8 | c.6501del (p.Tyr2167Ter) c.234del (p.Tyr78Ter) c.96del (p.Tyr32Ter) c.6396del (p.Tyr2132Ter) | |
| X | g.154863156G>A | CA519357898 | F8 | c.6501C>T (p.Tyr2167=) c.234C>T (p.Tyr78=) c.96C>T (p.Tyr32=) c.6396C>T (p.Tyr2132=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154863156G>C | CA414907512 | F8 | c.6501C>G (p.Tyr2167Ter) c.234C>G (p.Tyr78Ter) c.96C>G (p.Tyr32Ter) c.6396C>G (p.Tyr2132Ter) | |
| X | g.154863156G= | CA2466815652 | F8 | c.6501C= (p.Tyr2167=) c.234C= (p.Tyr78=) c.96C= (p.Tyr32=) c.6396C= (p.Tyr2132=) | |
| X | g.154863156G>T | CA414907514 | F8 | c.6501C>A (p.Tyr2167Ter) c.234C>A (p.Tyr78Ter) c.96C>A (p.Tyr32Ter) c.6396C>A (p.Tyr2132Ter) | |
| X | g.154863157T>A | CA414907521 | F8 | c.6500A>T (p.Tyr2167Phe) c.233A>T (p.Tyr78Phe) c.95A>T (p.Tyr32Phe) c.6395A>T (p.Tyr2132Phe) | |
| X | g.154863157T>C | CA414907531 | F8 | c.6500A>G (p.Tyr2167Cys) c.233A>G (p.Tyr78Cys) c.95A>G (p.Tyr32Cys) c.6395A>G (p.Tyr2132Cys) | gnomAD v4 |
| X | g.154863157T>G | CA414907525 | F8 | c.6500A>C (p.Tyr2167Ser) c.233A>C (p.Tyr78Ser) c.95A>C (p.Tyr32Ser) c.6395A>C (p.Tyr2132Ser) | |
| X | g.154863158A>C | CA414907538 | F8 | c.6499T>G (p.Tyr2167Asp) c.232T>G (p.Tyr78Asp) c.94T>G (p.Tyr32Asp) c.6394T>G (p.Tyr2132Asp) | COSMIC COSMIC |
| X | g.154863158A>G | CA414907540 | F8 | c.6499T>C (p.Tyr2167His) c.232T>C (p.Tyr78His) c.94T>C (p.Tyr32His) c.6394T>C (p.Tyr2132His) | |
| X | g.154863158A>T | CA414907544 | F8 | c.6499T>A (p.Tyr2167Asn) c.232T>A (p.Tyr78Asn) c.94T>A (p.Tyr32Asn) c.6394T>A (p.Tyr2132Asn) | |
| X | g.154863159T>A | CA519357901 | F8 | c.6498A>T (p.Arg2166=) c.231A>T (p.Arg77=) c.93A>T (p.Arg31=) c.6393A>T (p.Arg2131=) | |
| X | g.154863159T>C | CA519357902 | F8 | c.6498A>G (p.Arg2166=) c.231A>G (p.Arg77=) c.93A>G (p.Arg31=) c.6393A>G (p.Arg2131=) | |
| X | g.154863159T>G | CA519357903 | F8 | c.6498A>C (p.Arg2166=) c.231A>C (p.Arg77=) c.93A>C (p.Arg31=) c.6393A>C (p.Arg2131=) | |
| X | g.154863160del | CA2695237171 | F8 | c.6497del (p.Arg2166HisfsTer20) c.230del (p.Arg77HisfsTer20) c.92del (p.Arg31HisfsTer20) c.6392del (p.Arg2131HisfsTer20) | |
| X | g.154863160C>A | CA414907549 | F8 | c.6497G>T (p.Arg2166Leu) c.230G>T (p.Arg77Leu) c.92G>T (p.Arg31Leu) c.6392G>T (p.Arg2131Leu) | |
| X | g.154863160C= | CA2466815653 | F8 | c.6497G= (p.Arg2166=) c.230G= (p.Arg77=) c.92G= (p.Arg31=) c.6392G= (p.Arg2131=) | |
| X | g.154863160C>G | CA414907552 | F8 | c.6497G>C (p.Arg2166Pro) c.230G>C (p.Arg77Pro) c.92G>C (p.Arg31Pro) c.6392G>C (p.Arg2131Pro) | dbSNP |
| X | g.154863160C>T | CA10567801 | F8 | c.6497G>A (p.Arg2166Gln) c.230G>A (p.Arg77Gln) c.92G>A (p.Arg31Gln) c.6392G>A (p.Arg2131Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 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=) |