| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154930894_154933976del | CA2018007668 | F8 | c.2114-2298_2898del c.*1780-2298_*2564del c.2009-2298_2793del | |
| X | g.154931307T>A | CA414901604 | F8 | c.2483A>T (p.Gln828Leu) c.*2149A>T (n.*2149A>T) c.2378A>T (p.Gln793Leu) | |
| X | g.154931307T>C | CA414901605 | F8 | c.2483A>G (p.Gln828Arg) c.*2149A>G (n.*2149A>G) c.2378A>G (p.Gln793Arg) | |
| X | g.154931307T>G | CA414901606 | F8 | c.2483A>C (p.Gln828Pro) c.*2149A>C (n.*2149A>C) c.2378A>C (p.Gln793Pro) | |
| X | g.154931308G>A | CA414901607 | F8 | c.2482C>T (p.Gln828Ter) c.*2148C>T (n.*2148C>T) c.2377C>T (p.Gln793Ter) | |
| X | g.154931308G>C | CA414901608 | F8 | c.2482C>G (p.Gln828Glu) c.*2148C>G (n.*2148C>G) c.2377C>G (p.Gln793Glu) | |
| X | g.154931308G>T | CA414901609 | F8 | c.2482C>A (p.Gln828Lys) c.*2148C>A (n.*2148C>A) c.2377C>A (p.Gln793Lys) | |
| X | g.154931309G>A | CA337325639 | F8 | c.2481C>T (p.Leu827=) c.*2147C>T (n.*2147C>T) c.2376C>T (p.Leu792=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154931309G>C | CA519719867 | F8 | c.2481C>G (p.Leu827=) c.*2147C>G (n.*2147C>G) c.2376C>G (p.Leu792=) | |
| X | g.154931309G= | CA2466836643 | F8 | c.2481C= (p.Leu827=) c.*2147C= (n.*2147C=) c.2376C= (p.Leu792=) | |
| X | g.154931309G>T | CA519719868 | F8 | c.2481C>A (p.Leu827=) c.*2147C>A (n.*2147C>A) c.2376C>A (p.Leu792=) | |
| X | g.154931310A>C | CA414901610 | F8 | c.2480T>G (p.Leu827Arg) c.*2146T>G (n.*2146T>G) c.2375T>G (p.Leu792Arg) | |
| X | g.154931310A>G | CA414901612 | F8 | c.2480T>C (p.Leu827Pro) c.*2146T>C (n.*2146T>C) c.2375T>C (p.Leu792Pro) | |
| X | g.154931310A>T | CA414901611 | F8 | c.2480T>A (p.Leu827His) c.*2146T>A (n.*2146T>A) c.2375T>A (p.Leu792His) | |
| X | g.154931311G>A | CA414901613 | F8 | c.2479C>T (p.Leu827Phe) c.*2145C>T (n.*2145C>T) c.2374C>T (p.Leu792Phe) | |
| X | g.154931311G>C | CA414901614 | F8 | c.2479C>G (p.Leu827Val) c.*2145C>G (n.*2145C>G) c.2374C>G (p.Leu792Val) | |
| X | g.154931311G>T | CA414901615 | F8 | c.2479C>A (p.Leu827Ile) c.*2145C>A (n.*2145C>A) c.2374C>A (p.Leu792Ile) | |
| X | g.154931312A>C | CA414901616 | F8 | c.2478T>G (p.Asp826Glu) c.*2144T>G (n.*2144T>G) c.2373T>G (p.Asp791Glu) | |
| X | g.154931312A>G | CA519719879 | F8 | c.2478T>C (p.Asp826=) c.*2144T>C (n.*2144T>C) c.2373T>C (p.Asp791=) | |
| X | g.154931312A>T | CA414901617 | F8 | c.2478T>A (p.Asp826Glu) c.*2144T>A (n.*2144T>A) c.2373T>A (p.Asp791Glu) | |
| X | g.154931313T>A | CA414901618 | F8 | c.2477A>T (p.Asp826Val) c.*2143A>T (n.*2143A>T) c.2372A>T (p.Asp791Val) | |
| X | g.154931313T>C | CA414901619 | F8 | c.2477A>G (p.Asp826Gly) c.*2143A>G (n.*2143A>G) c.2372A>G (p.Asp791Gly) | |
| X | g.154931313T>G | CA414901620 | F8 | c.2477A>C (p.Asp826Ala) c.*2143A>C (n.*2143A>C) c.2372A>C (p.Asp791Ala) | |
| X | g.154931314C>A | CA414901621 | F8 | c.2476G>T (p.Asp826Tyr) c.*2142G>T (n.*2142G>T) c.2371G>T (p.Asp791Tyr) | |
| X | g.154931314C>G | CA414901622 | F8 | c.2476G>C (p.Asp826His) c.*2142G>C (n.*2142G>C) c.2371G>C (p.Asp791His) | |
| X | g.154931314C>T | CA414901623 | F8 | c.2476G>A (p.Asp826Asn) c.*2142G>A (n.*2142G>A) c.2371G>A (p.Asp791Asn) | |
| X | g.154931315A= | CA2466836644 | F8 | c.2475T= (p.Ser825=) c.*2141T= (n.*2141T=) c.2370T= (p.Ser790=) | |
| X | g.154931315A>C | CA519719884 | F8 | c.2475T>G (p.Ser825=) c.*2141T>G (n.*2141T>G) c.2370T>G (p.Ser790=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154931315A>G | CA519719886 | F8 | c.2475T>C (p.Ser825=) c.*2141T>C (n.*2141T>C) c.2370T>C (p.Ser790=) | |
| X | g.154931315A>T | CA519719887 | F8 | c.2475T>A (p.Ser825=) c.*2141T>A (n.*2141T>A) c.2370T>A (p.Ser790=) | |
| X | g.154931316G>A | CA414901626 | F8 | c.2474C>T (p.Ser825Phe) c.*2140C>T (n.*2140C>T) c.2369C>T (p.Ser790Phe) | |
| X | g.154931316G>C | CA414901625 | F8 | c.2474C>G (p.Ser825Cys) c.*2140C>G (n.*2140C>G) c.2369C>G (p.Ser790Cys) | |
| X | g.154931316G>T | CA414901624 | F8 | c.2474C>A (p.Ser825Tyr) c.*2140C>A (n.*2140C>A) c.2369C>A (p.Ser790Tyr) | |
| X | g.154931317A>C | CA414901627 | F8 | c.2473T>G (p.Ser825Ala) c.*2139T>G (n.*2139T>G) c.2368T>G (p.Ser790Ala) | |
| X | g.154931317A>G | CA414901628 | F8 | c.2473T>C (p.Ser825Pro) c.*2139T>C (n.*2139T>C) c.2368T>C (p.Ser790Pro) | |
| X | g.154931317A>T | CA414901629 | F8 | c.2473T>A (p.Ser825Thr) c.*2139T>A (n.*2139T>A) c.2368T>A (p.Ser790Thr) | |
| X | g.154931318T>A | CA414901630 | F8 | c.2472A>T (p.Leu824Phe) c.*2138A>T (n.*2138A>T) c.2367A>T (p.Leu789Phe) | |
| X | g.154931318T>C | CA519719894 | F8 | c.2472A>G (p.Leu824=) c.*2138A>G (n.*2138A>G) c.2367A>G (p.Leu789=) | |
| X | g.154931318T>G | CA414901631 | F8 | c.2472A>C (p.Leu824Phe) c.*2138A>C (n.*2138A>C) c.2367A>C (p.Leu789Phe) | |
| X | g.154931319A>C | CA414901632 | F8 | c.2471T>G (p.Leu824Ter) c.*2137T>G (n.*2137T>G) c.2366T>G (p.Leu789Ter) | |
| X | g.154931319A>G | CA414901633 | F8 | c.2471T>C (p.Leu824Ser) c.*2137T>C (n.*2137T>C) c.2366T>C (p.Leu789Ser) | |
| X | g.154931319A>T | CA414901634 | F8 | c.2471T>A (p.Leu824Ter) c.*2137T>A (n.*2137T>A) c.2366T>A (p.Leu789Ter) | |
| X | g.154931320A>C | CA414901635 | F8 | c.2470T>G (p.Leu824Val) c.*2136T>G (n.*2136T>G) c.2365T>G (p.Leu789Val) | |
| X | g.154931320A>G | CA519719900 | F8 | c.2470T>C (p.Leu824=) c.*2136T>C (n.*2136T>C) c.2365T>C (p.Leu789=) | |
| X | g.154931320A>T | CA414901636 | F8 | c.2470T>A (p.Leu824Ile) c.*2136T>A (n.*2136T>A) c.2365T>A (p.Leu789Ile) | |
| X | g.154931321G>A | CA10568318 | F8 | c.2469C>T (p.Ser823=) c.*2135C>T (n.*2135C>T) c.2364C>T (p.Ser788=) | dbSNP ExAC |
| X | g.154931321G>C | CA519719902 | F8 | c.2469C>G (p.Ser823=) c.*2135C>G (n.*2135C>G) c.2364C>G (p.Ser788=) | |
| X | g.154931321G= | CA2466836645 | F8 | c.2469C= (p.Ser823=) c.*2135C= (n.*2135C=) c.2364C= (p.Ser788=) | |
| X | g.154931321G>T | CA519719904 | F8 | c.2469C>A (p.Ser823=) c.*2135C>A (n.*2135C>A) c.2364C>A (p.Ser788=) | |
| X | g.154931322G>A | CA414901637 | F8 | c.2468C>T (p.Ser823Phe) c.*2134C>T (n.*2134C>T) c.2363C>T (p.Ser788Phe) | |
| X | g.154931322G>C | CA414901639 | F8 | c.2468C>G (p.Ser823Cys) c.*2134C>G (n.*2134C>G) c.2363C>G (p.Ser788Cys) | |
| X | g.154931322G>T | CA414901638 | F8 | c.2468C>A (p.Ser823Tyr) c.*2134C>A (n.*2134C>A) c.2363C>A (p.Ser788Tyr) | |
| X | g.154931323A>C | CA414901640 | F8 | c.2467T>G (p.Ser823Ala) c.*2133T>G (n.*2133T>G) c.2362T>G (p.Ser788Ala) | |
| X | g.154931323A>G | CA414901642 | F8 | c.2467T>C (p.Ser823Pro) c.*2133T>C (n.*2133T>C) c.2362T>C (p.Ser788Pro) | |
| X | g.154931323A>T | CA414901641 | F8 | c.2467T>A (p.Ser823Thr) c.*2133T>A (n.*2133T>A) c.2362T>A (p.Ser788Thr) | |
| X | g.154931324T>A | CA519719912 | F8 | c.2466A>T (p.Leu822=) c.*2132A>T (n.*2132A>T) c.2361A>T (p.Leu787=) | |
| X | g.154931324T>C | CA519719913 | F8 | c.2466A>G (p.Leu822=) c.*2132A>G (n.*2132A>G) c.2361A>G (p.Leu787=) | |
| X | g.154931324T>G | CA519719914 | F8 | c.2466A>C (p.Leu822=) c.*2132A>C (n.*2132A>C) c.2361A>C (p.Leu787=) | |
| X | g.154931325A= | CA2466836646 | F8 | c.2465T= (p.Leu822=) c.*2131T= (n.*2131T=) c.2360T= (p.Leu787=) | |
| X | g.154931325A>C | CA414901643 | F8 | c.2465T>G (p.Leu822Arg) c.*2131T>G (n.*2131T>G) c.2360T>G (p.Leu787Arg) | |
| X | g.154931325A>G | CA414901644 | F8 | c.2465T>C (p.Leu822Pro) c.*2131T>C (n.*2131T>C) c.2360T>C (p.Leu787Pro) | dbSNP gnomAD v4 |
| X | g.154931325A>T | CA414901645 | F8 | c.2465T>A (p.Leu822Gln) c.*2131T>A (n.*2131T>A) c.2360T>A (p.Leu787Gln) | |
| X | g.154931326del | CA2695238363 | F8 | c.2464del (p.Leu822TyrfsTer23) c.*2130del (n.*2130del) c.2359del (p.Leu787TyrfsTer23) | |
| X | g.154931326G>A | CA519719916 | F8 | c.2464C>T (p.Leu822=) c.*2130C>T (n.*2130C>T) c.2359C>T (p.Leu787=) | |
| X | g.154931326G>C | CA414901646 | F8 | c.2464C>G (p.Leu822Val) c.*2130C>G (n.*2130C>G) c.2359C>G (p.Leu787Val) | |
| X | g.154931326G>T | CA414901647 | F8 | c.2464C>A (p.Leu822Ile) c.*2130C>A (n.*2130C>A) c.2359C>A (p.Leu787Ile) | |
| X | g.154931327C>A | CA519719917 | F8 | c.2463G>T (p.Gly821=) c.*2129G>T (n.*2129G>T) c.2358G>T (p.Gly786=) | |
| X | g.154931327C>G | CA519719918 | F8 | c.2463G>C (p.Gly821=) c.*2129G>C (n.*2129G>C) c.2358G>C (p.Gly786=) | |
| X | g.154931327C>T | CA519719919 | F8 | c.2463G>A (p.Gly821=) c.*2129G>A (n.*2129G>A) c.2358G>A (p.Gly786=) | |
| X | g.154931328C>A | CA414901648 | F8 | c.2462G>T (p.Gly821Val) c.*2128G>T (n.*2128G>T) c.2357G>T (p.Gly786Val) | |
| X | g.154931328C= | CA2466836647 | F8 | c.2462G= (p.Gly821=) c.*2128G= (n.*2128G=) c.2357G= (p.Gly786=) | |
| X | g.154931328C>G | CA414901649 | F8 | c.2462G>C (p.Gly821Ala) c.*2128G>C (n.*2128G>C) c.2357G>C (p.Gly786Ala) | |
| X | g.154931328C>T | CA414901650 | F8 | c.2462G>A (p.Gly821Glu) c.*2128G>A (n.*2128G>A) c.2357G>A (p.Gly786Glu) | dbSNP gnomAD v2 |
| X | g.154931329C>A | CA414901651 | F8 | c.2461G>T (p.Gly821Trp) c.*2127G>T (n.*2127G>T) c.2356G>T (p.Gly786Trp) | |
| X | g.154931329C= | CA2466836648 | F8 | c.2461G= (p.Gly821=) c.*2127G= (n.*2127G=) c.2356G= (p.Gly786=) | |
| X | g.154931329C>G | CA414901652 | F8 | c.2461G>C (p.Gly821Arg) c.*2127G>C (n.*2127G>C) c.2356G>C (p.Gly786Arg) | |
| X | g.154931329C>T | CA414901653 | F8 | c.2461G>A (p.Gly821Arg) c.*2127G>A (n.*2127G>A) c.2356G>A (p.Gly786Arg) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154931330A>C | CA414901654 | F8 | c.2460T>G (p.His820Gln) c.*2126T>G (n.*2126T>G) c.2355T>G (p.His785Gln) | |
| X | g.154931330A>G | CA519719925 | F8 | c.2460T>C (p.His820=) c.*2126T>C (n.*2126T>C) c.2355T>C (p.His785=) | |
| X | g.154931330A>T | CA414901655 | F8 | c.2460T>A (p.His820Gln) c.*2126T>A (n.*2126T>A) c.2355T>A (p.His785Gln) | |
| X | g.154931331T>A | CA414901656 | F8 | c.2459A>T (p.His820Leu) c.*2125A>T (n.*2125A>T) c.2354A>T (p.His785Leu) | |
| X | g.154931331T>C | CA10568319 | F8 | c.2459A>G (p.His820Arg) c.*2125A>G (n.*2125A>G) c.2354A>G (p.His785Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154931331T>G | CA414901657 | F8 | c.2459A>C (p.His820Pro) c.*2125A>C (n.*2125A>C) c.2354A>C (p.His785Pro) | dbSNP gnomAD v4 |
| X | g.154931331T= | CA2466836649 | F8 | c.2459A= (p.His820=) c.*2125A= (n.*2125A=) c.2354A= (p.His785=) | |
| X | g.154931332G>A | CA414901658 | F8 | c.2458C>T (p.His820Tyr) c.*2124C>T (n.*2124C>T) c.2353C>T (p.His785Tyr) | |
| X | g.154931332G>C | CA414901659 | F8 | c.2458C>G (p.His820Asp) c.*2124C>G (n.*2124C>G) c.2353C>G (p.His785Asp) | |
| X | g.154931332G= | CA2466836650 | F8 | c.2458C= (p.His820=) c.*2124C= (n.*2124C=) c.2353C= (p.His785=) | |
| X | g.154931332G>T | CA10568320 | F8 | c.2458C>A (p.His820Asn) c.*2124C>A (n.*2124C>A) c.2353C>A (p.His785Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154931333T>A | CA519719935 | F8 | c.2457A>T (p.Pro819=) c.*2123A>T (n.*2123A>T) c.2352A>T (p.Pro784=) | |
| X | g.154931333T>C | CA519719933 | F8 | c.2457A>G (p.Pro819=) c.*2123A>G (n.*2123A>G) c.2352A>G (p.Pro784=) | |
| X | g.154931333T>G | CA519719931 | F8 | c.2457A>C (p.Pro819=) c.*2123A>C (n.*2123A>C) c.2352A>C (p.Pro784=) | |
| X | g.154931334G>A | CA414901660 | F8 | c.2456C>T (p.Pro819Leu) c.*2122C>T (n.*2122C>T) c.2351C>T (p.Pro784Leu) | |
| X | g.154931334G>C | CA10568321 | F8 | c.2456C>G (p.Pro819Arg) c.*2122C>G (n.*2122C>G) c.2351C>G (p.Pro784Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154931334G= | CA2466836651 | F8 | c.2456C= (p.Pro819=) c.*2122C= (n.*2122C=) c.2351C= (p.Pro784=) | |
| X | g.154931334G>T | CA414901661 | F8 | c.2456C>A (p.Pro819Gln) c.*2122C>A (n.*2122C>A) c.2351C>A (p.Pro784Gln) | |
| X | g.154931335G>A | CA414901663 | F8 | c.2455C>T (p.Pro819Ser) c.*2121C>T (n.*2121C>T) c.2350C>T (p.Pro784Ser) | |
| X | g.154931335G>C | CA414901664 | F8 | c.2455C>G (p.Pro819Ala) c.*2121C>G (n.*2121C>G) c.2350C>G (p.Pro784Ala) | gnomAD v4 |
| X | g.154931335G>T | CA414901662 | F8 | c.2455C>A (p.Pro819Thr) c.*2121C>A (n.*2121C>A) c.2350C>A (p.Pro784Thr) | |
| X | g.154931336A= | CA2466836652 | F8 | c.2454T= (p.Thr818=) c.*2120T= (n.*2120T=) c.2349T= (p.Thr783=) | |
| X | g.154931336A>C | CA519719941 | F8 | c.2454T>G (p.Thr818=) c.*2120T>G (n.*2120T>G) c.2349T>G (p.Thr783=) | |
| X | g.154931336A>G | CA10568322 | F8 | c.2454T>C (p.Thr818=) c.*2120T>C (n.*2120T>C) c.2349T>C (p.Thr783=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154931336A>T | CA519719942 | F8 | c.2454T>A (p.Thr818=) c.*2120T>A (n.*2120T>A) c.2349T>A (p.Thr783=) | |
| X | g.154931337G>A | CA10568323 | F8 | c.2453C>T (p.Thr818Ile) c.*2119C>T (n.*2119C>T) c.2348C>T (p.Thr783Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154931337G>C | CA414901665 | F8 | c.2453C>G (p.Thr818Ser) c.*2119C>G (n.*2119C>G) c.2348C>G (p.Thr783Ser) | |
| X | g.154931337G= | CA2466836653 | F8 | c.2453C= (p.Thr818=) c.*2119C= (n.*2119C=) c.2348C= (p.Thr783=) | |
| X | g.154931337G>T | CA414901666 | F8 | c.2453C>A (p.Thr818Asn) c.*2119C>A (n.*2119C>A) c.2348C>A (p.Thr783Asn) | |
| X | g.154931338T>A | CA414901667 | F8 | c.2452A>T (p.Thr818Ser) c.*2118A>T (n.*2118A>T) c.2347A>T (p.Thr783Ser) | gnomAD v4 |
| X | g.154931338T>C | CA414901668 | F8 | c.2452A>G (p.Thr818Ala) c.*2118A>G (n.*2118A>G) c.2347A>G (p.Thr783Ala) | |
| X | g.154931338T>G | CA10568324 | F8 | c.2452A>C (p.Thr818Pro) c.*2118A>C (n.*2118A>C) c.2347A>C (p.Thr783Pro) | dbSNP ExAC gnomAD v2 |
| X | g.154931338T= | CA2466836654 | F8 | c.2452A= (p.Thr818=) c.*2118A= (n.*2118A=) c.2347A= (p.Thr783=) | |
| X | g.154931338dup | CA2695238364 | F8 | c.2452dup (p.Thr818AsnfsTer9) c.*2118dup (n.*2118dup) c.2347dup (p.Thr783AsnfsTer9) | |
| X | g.154931339A>C | CA519719943 | F8 | c.2451T>G (p.Pro817=) c.*2117T>G (n.*2117T>G) c.2346T>G (p.Pro782=) | |
| X | g.154931339A>G | CA519719946 | F8 | c.2451T>C (p.Pro817=) c.*2117T>C (n.*2117T>C) c.2346T>C (p.Pro782=) | |
| X | g.154931339A>T | CA519719944 | F8 | c.2451T>A (p.Pro817=) c.*2117T>A (n.*2117T>A) c.2346T>A (p.Pro782=) | |
| X | g.154931340G>A | CA414901669 | F8 | c.2450C>T (p.Pro817Leu) c.*2116C>T (n.*2116C>T) c.2345C>T (p.Pro782Leu) | gnomAD v4 |
| X | g.154931340G>C | CA414901670 | F8 | c.2450C>G (p.Pro817Arg) c.*2116C>G (n.*2116C>G) c.2345C>G (p.Pro782Arg) | gnomAD v4 |
| X | g.154931340G>T | CA414901671 | F8 | c.2450C>A (p.Pro817His) c.*2116C>A (n.*2116C>A) c.2345C>A (p.Pro782His) | |
| X | g.154931341G>A | CA414901674 | F8 | c.2449C>T (p.Pro817Ser) c.*2115C>T (n.*2115C>T) c.2344C>T (p.Pro782Ser) | |
| X | g.154931341G>C | CA414901673 | F8 | c.2449C>G (p.Pro817Ala) c.*2115C>G (n.*2115C>G) c.2344C>G (p.Pro782Ala) | COSMIC COSMIC |
| X | g.154931341G>T | CA414901672 | F8 | c.2449C>A (p.Pro817Thr) c.*2115C>A (n.*2115C>A) c.2344C>A (p.Pro782Thr) | |
| X | g.154931342A>C | CA414901675 | F8 | c.2448T>G (p.Ser816Arg) c.*2114T>G (n.*2114T>G) c.2343T>G (p.Ser781Arg) | |
| X | g.154931342A>G | CA519719953 | F8 | c.2448T>C (p.Ser816=) c.*2114T>C (n.*2114T>C) c.2343T>C (p.Ser781=) | |
| X | g.154931342A>T | CA414901676 | F8 | c.2448T>A (p.Ser816Arg) c.*2114T>A (n.*2114T>A) c.2343T>A (p.Ser781Arg) | |
| X | g.154931343_154931353del | CA2695238365 | F8 | c.2438_2448del (p.Leu813SerfsTer10) c.*2104_*2114del (n.*2104_*2114del) c.2333_2343del (p.Leu778SerfsTer10) | |
| X | g.154931343C>A | CA414901677 | F8 | c.2447G>T (p.Ser816Ile) c.*2113G>T (n.*2113G>T) c.2342G>T (p.Ser781Ile) | |
| X | g.154931343C>G | CA414901678 | F8 | c.2447G>C (p.Ser816Thr) c.*2113G>C (n.*2113G>C) c.2342G>C (p.Ser781Thr) | |
| X | g.154931343C>T | CA414901679 | F8 | c.2447G>A (p.Ser816Asn) c.*2113G>A (n.*2113G>A) c.2342G>A (p.Ser781Asn) | |
| X | g.154931345_154931346del | CA2695238366 | F8 | c.2446_2447del (p.Pro817TyrfsTer9) c.*2112_*2113del (n.*2112_*2113del) c.2341_2342del (p.Pro782TyrfsTer9) | |
| X | g.154931344T>A | CA414901680 | F8 | c.2446A>T (p.Ser816Cys) c.*2112A>T (n.*2112A>T) c.2341A>T (p.Ser781Cys) | |
| X | g.154931344T>C | CA414901681 | F8 | c.2446A>G (p.Ser816Gly) c.*2112A>G (n.*2112A>G) c.2341A>G (p.Ser781Gly) | |
| X | g.154931344T>G | CA414901682 | F8 | c.2446A>C (p.Ser816Arg) c.*2112A>C (n.*2112A>C) c.2341A>C (p.Ser781Arg) | |
| X | g.154931345C>A | CA414901683 | F8 | c.2445G>T (p.Gln815His) c.*2111G>T (n.*2111G>T) c.2340G>T (p.Gln780His) | |
| X | g.154931345C= | CA2466836655 | F8 | c.2445G= (p.Gln815=) c.*2111G= (n.*2111G=) c.2340G= (p.Gln780=) | |
| X | g.154931345C>G | CA10568325 | F8 | c.2445G>C (p.Gln815His) c.*2111G>C (n.*2111G>C) c.2340G>C (p.Gln780His) | dbSNP ExAC gnomAD v4 |
| X | g.154931345C>T | CA519719956 | F8 | c.2445G>A (p.Gln815=) c.*2111G>A (n.*2111G>A) c.2340G>A (p.Gln780=) | COSMIC COSMIC |
| X | g.154931346T>A | CA414901684 | F8 | c.2444A>T (p.Gln815Leu) c.*2110A>T (n.*2110A>T) c.2339A>T (p.Gln780Leu) | |
| X | g.154931346T>C | CA414901685 | F8 | c.2444A>G (p.Gln815Arg) c.*2110A>G (n.*2110A>G) c.2339A>G (p.Gln780Arg) | |
| X | g.154931346T>G | CA414901686 | F8 | c.2444A>C (p.Gln815Pro) c.*2110A>C (n.*2110A>C) c.2339A>C (p.Gln780Pro) | |
| X | g.154931346T= | CA2466836656 | F8 | c.2444A= (p.Gln815=) c.*2110A= (n.*2110A=) c.2339A= (p.Gln780=) | |
| X | g.154931346dup | CA2695238367 | F8 | c.2444dup (p.Ser816GlufsTer11) c.*2110dup (n.*2110dup) c.2339dup (p.Ser781GlufsTer11) | |
| X | g.154931347G>A | CA414901688 | F8 | c.2443C>T (p.Gln815Ter) c.*2109C>T (n.*2109C>T) c.2338C>T (p.Gln780Ter) | dbSNP |
| X | g.154931347G>C | CA414901689 | F8 | c.2443C>G (p.Gln815Glu) c.*2109C>G (n.*2109C>G) c.2338C>G (p.Gln780Glu) | |
| X | g.154931347G= | CA2466836657 | F8 | c.2443C= (p.Gln815=) c.*2109C= (n.*2109C=) c.2338C= (p.Gln780=) | |
| X | g.154931347G>T | CA414901687 | F8 | c.2443C>A (p.Gln815Lys) c.*2109C>A (n.*2109C>A) c.2338C>A (p.Gln780Lys) | |
| X | g.154931347_154931348insGG | CA873344242 | F8 | c.2443_2444insCC (p.Gln815ProfsTer31) c.*2109_*2110insCC (n.*2109_*2110insCC) c.2338_2339insCC (p.Gln780ProfsTer31) | dbSNP |
| X | g.154931348T>A | CA519719962 | F8 | c.2442A>T (p.Arg814=) c.*2108A>T (n.*2108A>T) c.2337A>T (p.Arg779=) | |
| X | g.154931348T>C | CA519719963 | F8 | c.2442A>G (p.Arg814=) c.*2108A>G (n.*2108A>G) c.2337A>G (p.Arg779=) | dbSNP |
| X | g.154931348T>G | CA519719961 | F8 | c.2442A>C (p.Arg814=) c.*2108A>C (n.*2108A>C) c.2337A>C (p.Arg779=) | |
| X | g.154931348T= | CA2466836658 | F8 | c.2442A= (p.Arg814=) c.*2108A= (n.*2108A=) c.2337A= (p.Arg779=) | |
| X | g.154931348delinsGGC | CA2695238368 | F8 | c.2442delinsGCC (p.Gln815ProfsTer?) c.*2108delinsGCC (n.*2108delinsGCC) c.2337delinsGCC (p.Gln780ProfsTer?) | |
| X | g.154931349C>A | CA414901691 | F8 | c.2441G>T (p.Arg814Leu) c.*2107G>T (n.*2107G>T) c.2336G>T (p.Arg779Leu) | |
| X | g.154931349C= | CA2466836659 | F8 | c.2441G= (p.Arg814=) c.*2107G= (n.*2107G=) c.2336G= (p.Arg779=) | |
| X | g.154931349C>G | CA414901690 | F8 | c.2441G>C (p.Arg814Pro) c.*2107G>C (n.*2107G>C) c.2336G>C (p.Arg779Pro) | |
| X | g.154931349C>T | CA10568326 | F8 | c.2441G>A (p.Arg814Gln) c.*2107G>A (n.*2107G>A) c.2336G>A (p.Arg779Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.154931350G>A | CA337325695 | F8 | c.2440C>T (p.Arg814Ter) c.*2106C>T (n.*2106C>T) c.2335C>T (p.Arg779Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.154931350G>C | CA414901692 | F8 | c.2440C>G (p.Arg814Gly) c.*2106C>G (n.*2106C>G) c.2335C>G (p.Arg779Gly) | gnomAD v4 |
| X | g.154931350G= | CA2466836660 | F8 | c.2440C= (p.Arg814=) c.*2106C= (n.*2106C=) c.2335C= (p.Arg779=) | |
| X | g.154931350G>T | CA519719966 | F8 | c.2440C>A (p.Arg814=) c.*2106C>A (n.*2106C>A) c.2335C>A (p.Arg779=) | |
| X | g.154931351C>A | CA414901693 | F8 | c.2439G>T (p.Leu813Phe) c.*2105G>T (n.*2105G>T) c.2334G>T (p.Leu778Phe) | |
| X | g.154931351C= | CA2466836661 | F8 | c.2439G= (p.Leu813=) c.*2105G= (n.*2105G=) c.2334G= (p.Leu778=) | |
| X | g.154931351C>G | CA414901694 | F8 | c.2439G>C (p.Leu813Phe) c.*2105G>C (n.*2105G>C) c.2334G>C (p.Leu778Phe) | |
| X | g.154931351C>T | CA10568327 | F8 | c.2439G>A (p.Leu813=) c.*2105G>A (n.*2105G>A) c.2334G>A (p.Leu778=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154931352A>C | CA414901695 | F8 | c.2438T>G (p.Leu813Trp) c.*2104T>G (n.*2104T>G) c.2333T>G (p.Leu778Trp) | |
| X | g.154931352A>G | CA414901696 | F8 | c.2438T>C (p.Leu813Ser) c.*2104T>C (n.*2104T>C) c.2333T>C (p.Leu778Ser) | |
| X | g.154931352A>T | CA414901697 | F8 | c.2438T>A (p.Leu813Ter) c.*2104T>A (n.*2104T>A) c.2333T>A (p.Leu778Ter) | |
| X | g.154931353A= | CA2466836662 | F8 | c.2437T= (p.Leu813=) c.*2103T= (n.*2103T=) c.2332T= (p.Leu778=) | |
| X | g.154931353A>C | CA414901698 | F8 | c.2437T>G (p.Leu813Val) c.*2103T>G (n.*2103T>G) c.2332T>G (p.Leu778Val) | |
| X | g.154931353A>G | CA10568328 | F8 | c.2437T>C (p.Leu813=) c.*2103T>C (n.*2103T>C) c.2332T>C (p.Leu778=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154931353A>T | CA414901699 | F8 | c.2437T>A (p.Leu813Met) c.*2103T>A (n.*2103T>A) c.2332T>A (p.Leu778Met) | |
| X | g.154931354G>A | CA519719972 | F8 | c.2436C>T (p.Leu812=) c.*2102C>T (n.*2102C>T) c.2331C>T (p.Leu777=) | gnomAD v4 |
| X | g.154931354G>C | CA519719973 | F8 | c.2436C>G (p.Leu812=) c.*2102C>G (n.*2102C>G) c.2331C>G (p.Leu777=) | |
| X | g.154931354G>T | CA519719974 | F8 | c.2436C>A (p.Leu812=) c.*2102C>A (n.*2102C>A) c.2331C>A (p.Leu777=) | |
| X | g.154931355A>C | CA414901700 | F8 | c.2435T>G (p.Leu812Arg) c.*2101T>G (n.*2101T>G) c.2330T>G (p.Leu777Arg) | |
| X | g.154931355A>G | CA414901702 | F8 | c.2435T>C (p.Leu812Pro) c.*2101T>C (n.*2101T>C) c.2330T>C (p.Leu777Pro) | gnomAD v4 |
| X | g.154931355A>T | CA414901701 | F8 | c.2435T>A (p.Leu812His) c.*2101T>A (n.*2101T>A) c.2330T>A (p.Leu777His) | |
| X | g.154931356G>A | CA414901703 | F8 | c.2434C>T (p.Leu812Phe) c.*2100C>T (n.*2100C>T) c.2329C>T (p.Leu777Phe) | |
| X | g.154931356G>C | CA414901704 | F8 | c.2434C>G (p.Leu812Val) c.*2100C>G (n.*2100C>G) c.2329C>G (p.Leu777Val) | |
| X | g.154931356G>T | CA414901705 | F8 | c.2434C>A (p.Leu812Ile) c.*2100C>A (n.*2100C>A) c.2329C>A (p.Leu777Ile) | |
| X | g.154931357C>A | CA414901706 | F8 | c.2433G>T (p.Met811Ile) c.*2099G>T (n.*2099G>T) c.2328G>T (p.Met776Ile) | |
| X | g.154931357C= | CA2466836663 | F8 | c.2433G= (p.Met811=) c.*2099G= (n.*2099G=) c.2328G= (p.Met776=) | |
| X | g.154931357C>G | CA414901707 | F8 | c.2433G>C (p.Met811Ile) c.*2099G>C (n.*2099G>C) c.2328G>C (p.Met776Ile) | |
| X | g.154931357C>T | CA414901708 | F8 | c.2433G>A (p.Met811Ile) c.*2099G>A (n.*2099G>A) c.2328G>A (p.Met776Ile) | dbSNP gnomAD v4 |
| X | g.154931358A>C | CA414901709 | F8 | c.2432T>G (p.Met811Arg) c.*2098T>G (n.*2098T>G) c.2327T>G (p.Met776Arg) | |
| X | g.154931358A>G | CA414901710 | F8 | c.2432T>C (p.Met811Thr) c.*2098T>C (n.*2098T>C) c.2327T>C (p.Met776Thr) | gnomAD v4 |
| X | g.154931358A>T | CA414901711 | F8 | c.2432T>A (p.Met811Lys) c.*2098T>A (n.*2098T>A) c.2327T>A (p.Met776Lys) | |
| X | g.154931359T>A | CA414901713 | F8 | c.2431A>T (p.Met811Leu) c.*2097A>T (n.*2097A>T) c.2326A>T (p.Met776Leu) | |
| X | g.154931359T>C | CA414901714 | F8 | c.2431A>G (p.Met811Val) c.*2097A>G (n.*2097A>G) c.2326A>G (p.Met776Val) | |
| X | g.154931359T>G | CA414901712 | F8 | c.2431A>C (p.Met811Leu) c.*2097A>C (n.*2097A>C) c.2326A>C (p.Met776Leu) | |
| X | g.154931360C>A | CA10568329 | F8 | c.2430G>T (p.Leu810Phe) c.*2096G>T (n.*2096G>T) c.2325G>T (p.Leu775Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154931360C= | CA2466836664 | F8 | c.2430G= (p.Leu810=) c.*2096G= (n.*2096G=) c.2325G= (p.Leu775=) | |
| X | g.154931360C>G | CA414901715 | F8 | c.2430G>C (p.Leu810Phe) c.*2096G>C (n.*2096G>C) c.2325G>C (p.Leu775Phe) | |
| X | g.154931360C>T | CA519719986 | F8 | c.2430G>A (p.Leu810=) c.*2096G>A (n.*2096G>A) c.2325G>A (p.Leu775=) | |
| X | g.154931361A= | CA2466836665 | F8 | c.2429T= (p.Leu810=) c.*2095T= (n.*2095T=) c.2324T= (p.Leu775=) | |
| X | g.154931361A>C | CA414901716 | F8 | c.2429T>G (p.Leu810Trp) c.*2095T>G (n.*2095T>G) c.2324T>G (p.Leu775Trp) | |
| X | g.154931361A>G | CA414901717 | F8 | c.2429T>C (p.Leu810Ser) c.*2095T>C (n.*2095T>C) c.2324T>C (p.Leu775Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154931361A>T | CA414901718 | F8 | c.2429T>A (p.Leu810Ter) c.*2095T>A (n.*2095T>A) c.2324T>A (p.Leu775Ter) | |
| X | g.154931362A>C | CA414901719 | F8 | c.2428T>G (p.Leu810Val) c.*2094T>G (n.*2094T>G) c.2323T>G (p.Leu775Val) | |
| X | g.154931362A>G | CA519719991 | F8 | c.2428T>C (p.Leu810=) c.*2094T>C (n.*2094T>C) c.2323T>C (p.Leu775=) | COSMIC COSMIC |
| X | g.154931362A>T | CA414901720 | F8 | c.2428T>A (p.Leu810Met) c.*2094T>A (n.*2094T>A) c.2323T>A (p.Leu775Met) | |
| X | g.154931363C>A | CA414901721 | F8 | c.2427G>T (p.Leu809Phe) c.*2093G>T (n.*2093G>T) c.2322G>T (p.Leu774Phe) | |
| X | g.154931363C>G | CA414901722 | F8 | c.2427G>C (p.Leu809Phe) c.*2093G>C (n.*2093G>C) c.2322G>C (p.Leu774Phe) | |
| X | g.154931363C>T | CA519719995 | F8 | c.2427G>A (p.Leu809=) c.*2093G>A (n.*2093G>A) c.2322G>A (p.Leu774=) | |
| X | g.154931364A>C | CA414901723 | F8 | c.2426T>G (p.Leu809Trp) c.*2092T>G (n.*2092T>G) c.2321T>G (p.Leu774Trp) | |
| X | g.154931364A>G | CA414901724 | F8 | c.2426T>C (p.Leu809Ser) c.*2092T>C (n.*2092T>C) c.2321T>C (p.Leu774Ser) | |
| X | g.154931364A>T | CA414901725 | F8 | c.2426T>A (p.Leu809Ter) c.*2092T>A (n.*2092T>A) c.2321T>A (p.Leu774Ter) | |
| X | g.154931365A>C | CA414901727 | F8 | c.2425T>G (p.Leu809Val) c.*2091T>G (n.*2091T>G) c.2320T>G (p.Leu774Val) | |
| X | g.154931365A>G | CA519719997 | F8 | c.2425T>C (p.Leu809=) c.*2091T>C (n.*2091T>C) c.2320T>C (p.Leu774=) | gnomAD v4 |
| X | g.154931365A>T | CA414901726 | F8 | c.2425T>A (p.Leu809Met) c.*2091T>A (n.*2091T>A) c.2320T>A (p.Leu774Met) | |
| X | g.154931366A>C | CA414901728 | F8 | c.2424T>G (p.Asp808Glu) c.*2090T>G (n.*2090T>G) c.2319T>G (p.Asp773Glu) | |
| X | g.154931366A>G | CA519719998 | F8 | c.2424T>C (p.Asp808=) c.*2090T>C (n.*2090T>C) c.2319T>C (p.Asp773=) | |
| X | g.154931366A>T | CA414901729 | F8 | c.2424T>A (p.Asp808Glu) c.*2090T>A (n.*2090T>A) c.2319T>A (p.Asp773Glu) | |
| X | g.154931367T>A | CA414901730 | F8 | c.2423A>T (p.Asp808Val) c.*2089A>T (n.*2089A>T) c.2318A>T (p.Asp773Val) | |
| X | g.154931367T>C | CA414901731 | F8 | c.2423A>G (p.Asp808Gly) c.*2089A>G (n.*2089A>G) c.2318A>G (p.Asp773Gly) | |
| X | g.154931367T>G | CA414901732 | F8 | c.2423A>C (p.Asp808Ala) c.*2089A>C (n.*2089A>C) c.2318A>C (p.Asp773Ala) | |
| X | g.154931368C>A | CA414901733 | F8 | c.2422G>T (p.Asp808Tyr) c.*2088G>T (n.*2088G>T) c.2317G>T (p.Asp773Tyr) | |
| X | g.154931368C>G | CA414901734 | F8 | c.2422G>C (p.Asp808His) c.*2088G>C (n.*2088G>C) c.2317G>C (p.Asp773His) | |
| X | g.154931368C>T | CA414901735 | F8 | c.2422G>A (p.Asp808Asn) c.*2088G>A (n.*2088G>A) c.2317G>A (p.Asp773Asn) | |
| X | g.154931369A>C | CA414901736 | F8 | c.2421T>G (p.Ser807Arg) c.*2087T>G (n.*2087T>G) c.2316T>G (p.Ser772Arg) | |
| X | g.154931369A>G | CA519720003 | F8 | c.2421T>C (p.Ser807=) c.*2087T>C (n.*2087T>C) c.2316T>C (p.Ser772=) | gnomAD v4 |
| X | g.154931369A>T | CA414901737 | F8 | c.2421T>A (p.Ser807Arg) c.*2087T>A (n.*2087T>A) c.2316T>A (p.Ser772Arg) | |
| X | g.154931371_154931380del | CA2695238369 | F8 | c.2412_2421del (p.Ser805IlefsTer3) c.*2078_*2087del (n.*2078_*2087del) c.2307_2316del (p.Ser770IlefsTer3) | |
| X | g.154931370C>A | CA414901738 | F8 | c.2420G>T (p.Ser807Ile) c.*2086G>T (n.*2086G>T) c.2315G>T (p.Ser772Ile) | |
| X | g.154931370C= | CA2466836666 | F8 | c.2420G= (p.Ser807=) c.*2086G= (n.*2086G=) c.2315G= (p.Ser772=) | |
| X | g.154931370C>G | CA414901739 | F8 | c.2420G>C (p.Ser807Thr) c.*2086G>C (n.*2086G>C) c.2315G>C (p.Ser772Thr) | |
| X | g.154931370C>T | CA414901740 | F8 | c.2420G>A (p.Ser807Asn) c.*2086G>A (n.*2086G>A) c.2315G>A (p.Ser772Asn) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154931371T>A | CA414901742 | F8 | c.2419A>T (p.Ser807Cys) c.*2085A>T (n.*2085A>T) c.2314A>T (p.Ser772Cys) | |
| X | g.154931371T>C | CA337325720 | F8 | c.2419A>G (p.Ser807Gly) c.*2085A>G (n.*2085A>G) c.2314A>G (p.Ser772Gly) | dbSNP gnomAD v4 |
| X | g.154931371T>G | CA414901741 | F8 | c.2419A>C (p.Ser807Arg) c.*2085A>C (n.*2085A>C) c.2314A>C (p.Ser772Arg) | |
| X | g.154931371T= | CA2466836667 | F8 | c.2419A= (p.Ser807=) c.*2085A= (n.*2085A=) c.2314A= (p.Ser772=) | |
| X | g.154931371dup | CA2695238370 | F8 | c.2419dup (p.Ser807LysfsTer2) c.*2085dup (n.*2085dup) c.2314dup (p.Ser772LysfsTer2) | |
| X | g.154931372A>C | CA519720009 | F8 | c.2418T>G (p.Ser806=) c.*2084T>G (n.*2084T>G) c.2313T>G (p.Ser771=) | |
| X | g.154931372A>G | CA519720010 | F8 | c.2418T>C (p.Ser806=) c.*2084T>C (n.*2084T>C) c.2313T>C (p.Ser771=) | |
| X | g.154931372A>T | CA519720014 | F8 | c.2418T>A (p.Ser806=) c.*2084T>A (n.*2084T>A) c.2313T>A (p.Ser771=) | |
| X | g.154931375_154931379dup | CA2695238371 | F8 | c.2414_2418dup (p.Ser807ProfsTer6) c.*2080_*2084dup (n.*2080_*2084dup) c.2309_2313dup (p.Ser772ProfsTer6) | |
| X | g.154931373del | CA2695238372 | F8 | c.2417del (p.Ser806LeufsTer5) c.*2083del (n.*2083del) c.2312del (p.Ser771LeufsTer5) | |
| X | g.154931373G>A | CA414901743 | F8 | c.2417C>T (p.Ser806Phe) c.*2083C>T (n.*2083C>T) c.2312C>T (p.Ser771Phe) | dbSNP |
| X | g.154931373G>C | CA414901744 | F8 | c.2417C>G (p.Ser806Cys) c.*2083C>G (n.*2083C>G) c.2312C>G (p.Ser771Cys) | |
| X | g.154931373G= | CA2466836668 | F8 | c.2417C= (p.Ser806=) c.*2083C= (n.*2083C=) c.2312C= (p.Ser771=) | |
| X | g.154931373G>T | CA414901745 | F8 | c.2417C>A (p.Ser806Tyr) c.*2083C>A (n.*2083C>A) c.2312C>A (p.Ser771Tyr) | gnomAD v4 |
| X | g.154931373_154931380dup | CA2695238373 | F8 | c.2410_2417dup (p.Asp808ProfsTer6) c.*2076_*2083dup (n.*2076_*2083dup) c.2305_2312dup (p.Asp773ProfsTer6) | |
| X | g.154931374A>C | CA414901746 | F8 | c.2416T>G (p.Ser806Ala) c.*2082T>G (n.*2082T>G) c.2311T>G (p.Ser771Ala) | |
| X | g.154931374A>G | CA414901747 | F8 | c.2416T>C (p.Ser806Pro) c.*2082T>C (n.*2082T>C) c.2311T>C (p.Ser771Pro) | |
| X | g.154931374A>T | CA414901748 | F8 | c.2416T>A (p.Ser806Thr) c.*2082T>A (n.*2082T>A) c.2311T>A (p.Ser771Thr) | |
| X | g.154931374_154931375delinsAG | CA2466836669 | F8 | c.2415_2416delinsCT (p.Ser805=) c.*2081_*2082delinsCT (n.*2081_*2082delinsCT) c.2310_2311delinsCT (p.Ser770=) | |
| X | g.154931375G>A | CA337325731 | F8 | c.2415C>T (p.Ser805=) c.*2081C>T (n.*2081C>T) c.2310C>T (p.Ser770=) | dbSNP |
| X | g.154931375G>C | CA519720022 | F8 | c.2415C>G (p.Ser805=) c.*2081C>G (n.*2081C>G) c.2310C>G (p.Ser770=) | |
| X | g.154931375G= | CA2466836670 | F8 | c.2415C= (p.Ser805=) c.*2081C= (n.*2081C=) c.2310C= (p.Ser770=) | |
| X | g.154931375G>T | CA519720023 | F8 | c.2415C>A (p.Ser805=) c.*2081C>A (n.*2081C>A) c.2310C>A (p.Ser770=) | |
| X | g.154931376del | CA873344280 | F8 | c.2415del (p.Ser806LeufsTer5) c.*2081del (n.*2081del) c.2310del (p.Ser771LeufsTer5) | dbSNP |
| X | g.154931376G>A | CA414901749 | F8 | c.2414C>T (p.Ser805Phe) c.*2080C>T (n.*2080C>T) c.2309C>T (p.Ser770Phe) | |
| X | g.154931376G>C | CA414901750 | F8 | c.2414C>G (p.Ser805Cys) c.*2080C>G (n.*2080C>G) c.2309C>G (p.Ser770Cys) | |
| X | g.154931376G>T | CA414901751 | F8 | c.2414C>A (p.Ser805Tyr) c.*2080C>A (n.*2080C>A) c.2309C>A (p.Ser770Tyr) | |
| X | g.154931377A>C | CA414901752 | F8 | c.2413T>G (p.Ser805Ala) c.*2079T>G (n.*2079T>G) c.2308T>G (p.Ser770Ala) | |
| X | g.154931377A>G | CA414901753 | F8 | c.2413T>C (p.Ser805Pro) c.*2079T>C (n.*2079T>C) c.2308T>C (p.Ser770Pro) | |
| X | g.154931377A>T | CA414901754 | F8 | c.2413T>A (p.Ser805Thr) c.*2079T>A (n.*2079T>A) c.2308T>A (p.Ser770Thr) | |
| X | g.154931378G>A | CA519720025 | F8 | c.2412C>T (p.Val804=) c.*2078C>T (n.*2078C>T) c.2307C>T (p.Val769=) | |
| X | g.154931378G>C | CA519720026 | F8 | c.2412C>G (p.Val804=) c.*2078C>G (n.*2078C>G) c.2307C>G (p.Val769=) | |
| X | g.154931378G>T | CA519720028 | F8 | c.2412C>A (p.Val804=) c.*2078C>A (n.*2078C>A) c.2307C>A (p.Val769=) | |
| X | g.154931379A>C | CA414901757 | F8 | c.2411T>G (p.Val804Gly) c.*2077T>G (n.*2077T>G) c.2306T>G (p.Val769Gly) | |
| X | g.154931379A>G | CA414901756 | F8 | c.2411T>C (p.Val804Ala) c.*2077T>C (n.*2077T>C) c.2306T>C (p.Val769Ala) | |
| X | g.154931379A>T | CA414901755 | F8 | c.2411T>A (p.Val804Asp) c.*2077T>A (n.*2077T>A) c.2306T>A (p.Val769Asp) | |
| X | g.154931380C>A | CA414901758 | F8 | c.2410G>T (p.Val804Phe) c.*2076G>T (n.*2076G>T) c.2305G>T (p.Val769Phe) | |
| X | g.154931380C>G | CA414901759 | F8 | c.2410G>C (p.Val804Leu) c.*2076G>C (n.*2076G>C) c.2305G>C (p.Val769Leu) | |
| X | g.154931380C>T | CA414901760 | F8 | c.2410G>A (p.Val804Ile) c.*2076G>A (n.*2076G>A) c.2305G>A (p.Val769Ile) | |
| X | g.154931381del | CA2695238374 | F8 | c.2409del (p.Asn803LysfsTer8) c.*2075del (n.*2075del) c.2304del (p.Asn768LysfsTer8) | |
| X | g.154931381A>C | CA414901761 | F8 | c.2409T>G (p.Asn803Lys) c.*2075T>G (n.*2075T>G) c.2304T>G (p.Asn768Lys) | |
| X | g.154931381A>G | CA519720033 | F8 | c.2409T>C (p.Asn803=) c.*2075T>C (n.*2075T>C) c.2304T>C (p.Asn768=) | |
| X | g.154931381A>T | CA414901762 | F8 | c.2409T>A (p.Asn803Lys) c.*2075T>A (n.*2075T>A) c.2304T>A (p.Asn768Lys) | |
| X | g.154931382T>A | CA414901763 | F8 | c.2408A>T (p.Asn803Ile) c.*2074A>T (n.*2074A>T) c.2303A>T (p.Asn768Ile) | |
| X | g.154931382T>C | CA414901764 | F8 | c.2408A>G (p.Asn803Ser) c.*2074A>G (n.*2074A>G) c.2303A>G (p.Asn768Ser) | |
| X | g.154931382T>G | CA414901765 | F8 | c.2408A>C (p.Asn803Thr) c.*2074A>C (n.*2074A>C) c.2303A>C (p.Asn768Thr) | |
| X | g.154931383T>A | CA414901766 | F8 | c.2407A>T (p.Asn803Tyr) c.*2073A>T (n.*2073A>T) c.2302A>T (p.Asn768Tyr) | |
| X | g.154931383T>C | CA414901767 | F8 | c.2407A>G (p.Asn803Asp) c.*2073A>G (n.*2073A>G) c.2302A>G (p.Asn768Asp) | |
| X | g.154931383T>G | CA414901768 | F8 | c.2407A>C (p.Asn803His) c.*2073A>C (n.*2073A>C) c.2302A>C (p.Asn768His) | gnomAD v4 |
| X | g.154931384T>A | CA414901769 | F8 | c.2406A>T (p.Gln802His) c.*2072A>T (n.*2072A>T) c.2301A>T (p.Gln767His) | |
| X | g.154931384T>C | CA519720038 | F8 | c.2406A>G (p.Gln802=) c.*2072A>G (n.*2072A>G) c.2301A>G (p.Gln767=) | |
| X | g.154931384T>G | CA414901770 | F8 | c.2406A>C (p.Gln802His) c.*2072A>C (n.*2072A>C) c.2301A>C (p.Gln767His) | |
| X | g.154931385T>A | CA414901772 | F8 | c.2405A>T (p.Gln802Leu) c.*2071A>T (n.*2071A>T) c.2300A>T (p.Gln767Leu) | |
| X | g.154931385T>C | CA414901773 | F8 | c.2405A>G (p.Gln802Arg) c.*2071A>G (n.*2071A>G) c.2300A>G (p.Gln767Arg) | |
| X | g.154931385T>G | CA414901771 | F8 | c.2405A>C (p.Gln802Pro) c.*2071A>C (n.*2071A>C) c.2300A>C (p.Gln767Pro) | |
| X | g.154931386G>A | CA414901774 | F8 | c.2404C>T (p.Gln802Ter) c.*2070C>T (n.*2070C>T) c.2299C>T (p.Gln767Ter) | dbSNP |
| X | g.154931386G>C | CA414901775 | F8 | c.2404C>G (p.Gln802Glu) c.*2070C>G (n.*2070C>G) c.2299C>G (p.Gln767Glu) | |
| X | g.154931386G= | CA2466836671 | F8 | c.2404C= (p.Gln802=) c.*2070C= (n.*2070C=) c.2299C= (p.Gln767=) | |
| X | g.154931386G>T | CA414901776 | F8 | c.2404C>A (p.Gln802Lys) c.*2070C>A (n.*2070C>A) c.2299C>A (p.Gln767Lys) | |
| X | g.154931387T>A | CA519720044 | F8 | c.2403A>T (p.Ile801=) c.*2069A>T (n.*2069A>T) c.2298A>T (p.Ile766=) | |
| X | g.154931387T>C | CA414901777 | F8 | c.2403A>G (p.Ile801Met) c.*2069A>G (n.*2069A>G) c.2298A>G (p.Ile766Met) | dbSNP |
| X | g.154931387T>G | CA519720047 | F8 | c.2403A>C (p.Ile801=) c.*2069A>C (n.*2069A>C) c.2298A>C (p.Ile766=) | |
| X | g.154931387T= | CA2466836672 | F8 | c.2403A= (p.Ile801=) c.*2069A= (n.*2069A=) c.2298A= (p.Ile766=) | |
| X | g.154931388A>C | CA414901778 | F8 | c.2402T>G (p.Ile801Arg) c.*2068T>G (n.*2068T>G) c.2297T>G (p.Ile766Arg) | |
| X | g.154931388A>G | CA414901779 | F8 | c.2402T>C (p.Ile801Thr) c.*2068T>C (n.*2068T>C) c.2297T>C (p.Ile766Thr) | |
| X | g.154931388A>T | CA414901780 | F8 | c.2402T>A (p.Ile801Lys) c.*2068T>A (n.*2068T>A) c.2297T>A (p.Ile766Lys) | |
| X | g.154931389T>A | CA414901783 | F8 | c.2401A>T (p.Ile801Leu) c.*2067A>T (n.*2067A>T) c.2296A>T (p.Ile766Leu) | |
| X | g.154931389T>C | CA414901784 | F8 | c.2401A>G (p.Ile801Val) c.*2067A>G (n.*2067A>G) c.2296A>G (p.Ile766Val) | gnomAD v4 |
| X | g.154931389T>G | CA414901785 | F8 | c.2401A>C (p.Ile801Leu) c.*2067A>C (n.*2067A>C) c.2296A>C (p.Ile766Leu) | |
| X | g.154931392del | CA645616773 | F8 | c.2401del (p.Ile801TyrfsTer10) c.*2067del (n.*2067del) c.2296del (p.Ile766TyrfsTer10) | COSMIC COSMIC |
| X | g.154931390T>A | CA414901786 | F8 | c.2400A>T (p.Lys800Asn) c.*2066A>T (n.*2066A>T) c.2295A>T (p.Lys765Asn) | |
| X | g.154931390T>C | CA519720049 | F8 | c.2400A>G (p.Lys800=) c.*2066A>G (n.*2066A>G) c.2295A>G (p.Lys765=) | |
| X | g.154931390T>G | CA414901787 | F8 | c.2400A>C (p.Lys800Asn) c.*2066A>C (n.*2066A>C) c.2295A>C (p.Lys765Asn) | |
| X | g.154931391T>A | CA414901792 | F8 | c.2399A>T (p.Lys800Ile) c.*2065A>T (n.*2065A>T) c.2294A>T (p.Lys765Ile) | |
| X | g.154931391T>C | CA414901788 | F8 | c.2399A>G (p.Lys800Arg) c.*2065A>G (n.*2065A>G) c.2294A>G (p.Lys765Arg) | |
| X | g.154931391T>G | CA414901790 | F8 | c.2399A>C (p.Lys800Thr) c.*2065A>C (n.*2065A>C) c.2294A>C (p.Lys765Thr) | |
| X | g.154931392T>A | CA414901794 | F8 | c.2398A>T (p.Lys800Ter) c.*2064A>T (n.*2064A>T) c.2293A>T (p.Lys765Ter) | |
| X | g.154931392T>C | CA414901798 | F8 | c.2398A>G (p.Lys800Glu) c.*2064A>G (n.*2064A>G) c.2293A>G (p.Lys765Glu) | |
| X | g.154931392T>G | CA414901808 | F8 | c.2398A>C (p.Lys800Gln) c.*2064A>C (n.*2064A>C) c.2293A>C (p.Lys765Gln) | |
| X | g.154931393del | CA2695238375 | F8 | c.2397del (p.Ile801TyrfsTer10) c.*2063del (n.*2063del) c.2292del (p.Ile766TyrfsTer10) | |
| X | g.154931393A>C | CA519720053 | F8 | c.2397T>G (p.Pro799=) c.*2063T>G (n.*2063T>G) c.2292T>G (p.Pro764=) | gnomAD v4 |
| X | g.154931393A>G | CA519720054 | F8 | c.2397T>C (p.Pro799=) c.*2063T>C (n.*2063T>C) c.2292T>C (p.Pro764=) | |
| X | g.154931393A>T | CA519720056 | F8 | c.2397T>A (p.Pro799=) c.*2063T>A (n.*2063T>A) c.2292T>A (p.Pro764=) | |
| X | g.154931394G>A | CA414901811 | F8 | c.2396C>T (p.Pro799Leu) c.*2062C>T (n.*2062C>T) c.2291C>T (p.Pro764Leu) | |
| X | g.154931394G>C | CA414901815 | F8 | c.2396C>G (p.Pro799Arg) c.*2062C>G (n.*2062C>G) c.2291C>G (p.Pro764Arg) | |
| X | g.154931394G>T | CA414901818 | F8 | c.2396C>A (p.Pro799His) c.*2062C>A (n.*2062C>A) c.2291C>A (p.Pro764His) | |
| X | g.154931395G>A | CA414901821 | F8 | c.2395C>T (p.Pro799Ser) c.*2061C>T (n.*2061C>T) c.2290C>T (p.Pro764Ser) | COSMIC COSMIC |
| X | g.154931395G>C | CA10568330 | F8 | c.2395C>G (p.Pro799Ala) c.*2061C>G (n.*2061C>G) c.2290C>G (p.Pro764Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154931395G= | CA2466836673 | F8 | c.2395C= (p.Pro799=) c.*2061C= (n.*2061C=) c.2290C= (p.Pro764=) | |
| X | g.154931395G>T | CA414901824 | F8 | c.2395C>A (p.Pro799Thr) c.*2061C>A (n.*2061C>A) c.2290C>A (p.Pro764Thr) | gnomAD v4 |
| X | g.154931396C>A | CA414901827 | F8 | c.2394G>T (p.Met798Ile) c.*2060G>T (n.*2060G>T) c.2289G>T (p.Met763Ile) | |
| X | g.154931396C>G | CA414901829 | F8 | c.2394G>C (p.Met798Ile) c.*2060G>C (n.*2060G>C) c.2289G>C (p.Met763Ile) | |
| X | g.154931396C>T | CA414901832 | F8 | c.2394G>A (p.Met798Ile) c.*2060G>A (n.*2060G>A) c.2289G>A (p.Met763Ile) | |
| X | g.154931397A= | CA2466836674 | F8 | c.2393T= (p.Met798=) c.*2059T= (n.*2059T=) c.2288T= (p.Met763=) | |
| X | g.154931397A>C | CA414901840 | F8 | c.2393T>G (p.Met798Arg) c.*2059T>G (n.*2059T>G) c.2288T>G (p.Met763Arg) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154931397A>G | CA414901842 | F8 | c.2393T>C (p.Met798Thr) c.*2059T>C (n.*2059T>C) c.2288T>C (p.Met763Thr) | |
| X | g.154931397A>T | CA414901838 | F8 | c.2393T>A (p.Met798Lys) c.*2059T>A (n.*2059T>A) c.2288T>A (p.Met763Lys) | |
| X | g.154931398T>A | CA414901849 | F8 | c.2392A>T (p.Met798Leu) c.*2058A>T (n.*2058A>T) c.2287A>T (p.Met763Leu) | |
| X | g.154931398T>C | CA414901846 | F8 | c.2392A>G (p.Met798Val) c.*2058A>G (n.*2058A>G) c.2287A>G (p.Met763Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154931398T>G | CA414901851 | F8 | c.2392A>C (p.Met798Leu) c.*2058A>C (n.*2058A>C) c.2287A>C (p.Met763Leu) | |
| X | g.154931398T= | CA2466836675 | F8 | c.2392A= (p.Met798=) c.*2058A= (n.*2058A=) c.2287A= (p.Met763=) | |
| X | g.154931399A>C | CA519720060 | F8 | c.2391T>G (p.Pro797=) c.*2057T>G (n.*2057T>G) c.2286T>G (p.Pro762=) | |
| X | g.154931399A>G | CA519720061 | F8 | c.2391T>C (p.Pro797=) c.*2057T>C (n.*2057T>C) c.2286T>C (p.Pro762=) | |
| X | g.154931399A>T | CA519720062 | F8 | c.2391T>A (p.Pro797=) c.*2057T>A (n.*2057T>A) c.2286T>A (p.Pro762=) | |
| X | g.154931400G>A | CA414901854 | F8 | c.2390C>T (p.Pro797Leu) c.*2056C>T (n.*2056C>T) c.2285C>T (p.Pro762Leu) | |
| X | g.154931400G>C | CA414901858 | F8 | c.2390C>G (p.Pro797Arg) c.*2056C>G (n.*2056C>G) c.2285C>G (p.Pro762Arg) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154931400G= | CA2466836676 | F8 | c.2390C= (p.Pro797=) c.*2056C= (n.*2056C=) c.2285C= (p.Pro762=) | |
| X | g.154931400G>T | CA414901857 | F8 | c.2390C>A (p.Pro797His) c.*2056C>A (n.*2056C>A) c.2285C>A (p.Pro762His) | |
| X | g.154931401G>A | CA414901860 | F8 | c.2389C>T (p.Pro797Ser) c.*2055C>T (n.*2055C>T) c.2284C>T (p.Pro762Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154931401G>C | CA414901863 | F8 | c.2389C>G (p.Pro797Ala) c.*2055C>G (n.*2055C>G) c.2284C>G (p.Pro762Ala) | |
| X | g.154931401G= | CA2466836677 | F8 | c.2389C= (p.Pro797=) c.*2055C= (n.*2055C=) c.2284C= (p.Pro762=) | |
| X | g.154931401G>T | CA414901864 | F8 | c.2389C>A (p.Pro797Thr) c.*2055C>A (n.*2055C>A) c.2284C>A (p.Pro762Thr) | gnomAD v3 gnomAD v4 |
| X | g.154931402T>A | CA519720064 | F8 | c.2388A>T (p.Thr796=) c.*2054A>T (n.*2054A>T) c.2283A>T (p.Thr761=) | |
| X | g.154931402T>C | CA519720065 | F8 | c.2388A>G (p.Thr796=) c.*2054A>G (n.*2054A>G) c.2283A>G (p.Thr761=) | |
| X | g.154931402T>G | CA519720067 | F8 | c.2388A>C (p.Thr796=) c.*2054A>C (n.*2054A>C) c.2283A>C (p.Thr761=) | |
| X | g.154931402_154931403delinsTG | CA2466836678 | F8 | c.2387_2388delinsCA (p.Thr796=) c.*2053_*2054delinsCA (n.*2053_*2054delinsCA) c.2282_2283delinsCA (p.Thr761=) | |
| X | g.154931405_154931409del | CA2695238376 | F8 | c.2384_2388del (p.Arg795ThrfsTer4) c.*2050_*2054del (n.*2050_*2054del) c.2279_2283del (p.Arg760ThrfsTer4) | |
| X | g.154931403del | CA873344282 | F8 | c.2387del (p.Thr796AsnfsTer15) c.*2053del (n.*2053del) c.2282del (p.Thr761AsnfsTer15) | dbSNP |
| X | g.154931403G>A | CA414901872 | F8 | c.2387C>T (p.Thr796Ile) c.*2053C>T (n.*2053C>T) c.2282C>T (p.Thr761Ile) | |
| X | g.154931403G>C | CA414901873 | F8 | c.2387C>G (p.Thr796Arg) c.*2053C>G (n.*2053C>G) c.2282C>G (p.Thr761Arg) | |
| X | g.154931403G>T | CA414901875 | F8 | c.2387C>A (p.Thr796Lys) c.*2053C>A (n.*2053C>A) c.2282C>A (p.Thr761Lys) | |
| X | g.154931403_154931404delinsGT | CA2466836679 | F8 | c.2386_2387delinsAC (p.Thr796=) c.*2052_*2053delinsAC (n.*2052_*2053delinsAC) c.2281_2282delinsAC (p.Thr761=) | |
| X | g.154931404T>A | CA414901877 | F8 | c.2386A>T (p.Thr796Ser) c.*2052A>T (n.*2052A>T) c.2281A>T (p.Thr761Ser) | |
| X | g.154931404T>C | CA414901879 | F8 | c.2386A>G (p.Thr796Ala) c.*2052A>G (n.*2052A>G) c.2281A>G (p.Thr761Ala) | |
| X | g.154931404T>G | CA414901883 | F8 | c.2386A>C (p.Thr796Pro) c.*2052A>C (n.*2052A>C) c.2281A>C (p.Thr761Pro) | |
| X | g.154931405del | CA873344283 | F8 | c.2386del (p.Thr796HisfsTer15) c.*2052del (n.*2052del) c.2281del (p.Thr761HisfsTer15) | dbSNP |
| X | g.154931405T>A | CA414901885 | F8 | c.2385A>T (p.Arg795Ser) c.*2051A>T (n.*2051A>T) c.2280A>T (p.Arg760Ser) | |
| X | g.154931405T>C | CA10568331 | F8 | c.2385A>G (p.Arg795=) c.*2051A>G (n.*2051A>G) c.2280A>G (p.Arg760=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154931405T>G | CA414901890 | F8 | c.2385A>C (p.Arg795Ser) c.*2051A>C (n.*2051A>C) c.2280A>C (p.Arg760Ser) | |
| X | g.154931405T= | CA2466836680 | F8 | c.2385A= (p.Arg795=) c.*2051A= (n.*2051A=) c.2280A= (p.Arg760=) | |
| X | g.154931406C>A | CA414901898 | F8 | c.2384G>T (p.Arg795Ile) c.*2050G>T (n.*2050G>T) c.2279G>T (p.Arg760Ile) | |
| X | g.154931406C>G | CA414901896 | F8 | c.2384G>C (p.Arg795Thr) c.*2050G>C (n.*2050G>C) c.2279G>C (p.Arg760Thr) | |
| X | g.154931406C>T | CA414901893 | F8 | c.2384G>A (p.Arg795Lys) c.*2050G>A (n.*2050G>A) c.2279G>A (p.Arg760Lys) | |
| X | g.154931407T>A | CA255140 | F8 | c.2383A>T (p.Arg795Ter) c.*2049A>T (n.*2049A>T) c.2278A>T (p.Arg760Ter) | ClinVar dbSNP |
| X | g.154931407T>C | CA10568332 | F8 | c.2383A>G (p.Arg795Gly) c.*2049A>G (n.*2049A>G) c.2278A>G (p.Arg760Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154931407T>G | CA519719763 | F8 | c.2383A>C (p.Arg795=) c.*2049A>C (n.*2049A>C) c.2278A>C (p.Arg760=) | |
| X | g.154931407T= | CA2466836681 | F8 | c.2383A= (p.Arg795=) c.*2049A= (n.*2049A=) c.2278A= (p.Arg760=) |