UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154969329_154969448del | CA2695237407 | F8 | c.893_1009+3del c.*769_*885+3del c.788_904+3del | |
| X | g.154969379C>A | CA414917756 | F8 | c.961G>T (p.Asp321Tyr) c.*837G>T (n.*837G>T) c.856G>T (p.Asp286Tyr) | |
| X | g.154969379C>G | CA414917752 | F8 | c.961G>C (p.Asp321His) c.*837G>C (n.*837G>C) c.856G>C (p.Asp286His) | |
| X | g.154969379C>T | CA414917754 | F8 | c.961G>A (p.Asp321Asn) c.*837G>A (n.*837G>A) c.856G>A (p.Asp286Asn) | |
| X | g.154969380C>A | CA414917757 | F8 | c.960G>T (p.Met320Ile) c.*836G>T (n.*836G>T) c.855G>T (p.Met285Ile) | |
| X | g.154969380C>G | CA414917759 | F8 | c.960G>C (p.Met320Ile) c.*836G>C (n.*836G>C) c.855G>C (p.Met285Ile) | |
| X | g.154969380C>T | CA414917760 | F8 | c.960G>A (p.Met320Ile) c.*836G>A (n.*836G>A) c.855G>A (p.Met285Ile) | |
| X | g.154969382_154969384del | CA2695237427 | F8 | c.958_960del (p.Met320del) c.*834_*836del (n.*834_*836del) c.853_855del (p.Met285del) | |
| X | g.154969381A>C | CA414917761 | F8 | c.959T>G (p.Met320Arg) c.*835T>G (n.*835T>G) c.854T>G (p.Met285Arg) | |
| X | g.154969381A>G | CA414917762 | F8 | c.959T>C (p.Met320Thr) c.*835T>C (n.*835T>C) c.854T>C (p.Met285Thr) | |
| X | g.154969381A>T | CA414917764 | F8 | c.959T>A (p.Met320Lys) c.*835T>A (n.*835T>A) c.854T>A (p.Met285Lys) | |
| X | g.154969382T>A | CA414917766 | F8 | c.958A>T (p.Met320Leu) c.*834A>T (n.*834A>T) c.853A>T (p.Met285Leu) | |
| X | g.154969382T>C | CA414917767 | F8 | c.958A>G (p.Met320Val) c.*834A>G (n.*834A>G) c.853A>G (p.Met285Val) | |
| X | g.154969382T>G | CA414917769 | F8 | c.958A>C (p.Met320Leu) c.*834A>C (n.*834A>C) c.853A>C (p.Met285Leu) | |
| X | g.154969383_154969391del | CA2695237430 | F8 | c.950_958del (p.Thr317_Leu319del) c.*826_*834del (n.*826_*834del) c.845_853del (p.Thr282_Leu284del) | |
| X | g.154969383C>A | CA414917771 | F8 | c.957G>T (p.Leu319Phe) c.*833G>T (n.*833G>T) c.852G>T (p.Leu284Phe) | |
| X | g.154969383C>G | CA414917773 | F8 | c.957G>C (p.Leu319Phe) c.*833G>C (n.*833G>C) c.852G>C (p.Leu284Phe) | |
| X | g.154969383C>T | CA519367203 | F8 | c.957G>A (p.Leu319=) c.*833G>A (n.*833G>A) c.852G>A (p.Leu284=) | |
| X | g.154969384A>C | CA414917774 | F8 | c.956T>G (p.Leu319Trp) c.*832T>G (n.*832T>G) c.851T>G (p.Leu284Trp) | |
| X | g.154969384A>G | CA414917778 | F8 | c.956T>C (p.Leu319Ser) c.*832T>C (n.*832T>C) c.851T>C (p.Leu284Ser) | |
| X | g.154969384A>T | CA414917776 | F8 | c.956T>A (p.Leu319Ter) c.*832T>A (n.*832T>A) c.851T>A (p.Leu284Ter) | |
| X | g.154969385del | CA2695237431 | F8 | c.956del (p.Leu319Ter) c.*832del (n.*832del) c.851del (p.Leu284Ter) | |
| X | g.154969385A= | CA2466848983 | F8 | c.955T= (p.Leu319=) c.*831T= (n.*831T=) c.850T= (p.Leu284=) | |
| X | g.154969385A>C | CA414917780 | F8 | c.955T>G (p.Leu319Val) c.*831T>G (n.*831T>G) c.850T>G (p.Leu284Val) | |
| X | g.154969385A>G | CA519367207 | F8 | c.955T>C (p.Leu319=) c.*831T>C (n.*831T>C) c.850T>C (p.Leu284=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154969385A>T | CA414917781 | F8 | c.955T>A (p.Leu319Met) c.*831T>A (n.*831T>A) c.850T>A (p.Leu284Met) | |
| X | g.154969387_154969388del | CA2695237432 | F8 | c.954_955del (p.Leu319AspfsTer18) c.*830_*831del (n.*830_*831del) c.849_850del (p.Leu284AspfsTer18) | |
| X | g.154969386G>A | CA519367209 | F8 | c.954C>T (p.Leu318=) c.*830C>T (n.*830C>T) c.849C>T (p.Leu283=) | |
| X | g.154969386G>C | CA519367210 | F8 | c.954C>G (p.Leu318=) c.*830C>G (n.*830C>G) c.849C>G (p.Leu283=) | |
| X | g.154969386G>T | CA519367211 | F8 | c.954C>A (p.Leu318=) c.*830C>A (n.*830C>A) c.849C>A (p.Leu283=) | |
| X | g.154969387del | CA2695237433 | F8 | c.953del (p.Leu318ProfsTer2) c.*829del (n.*829del) c.848del (p.Leu283ProfsTer2) | |
| X | g.154969387A>C | CA414917783 | F8 | c.953T>G (p.Leu318Arg) c.*829T>G (n.*829T>G) c.848T>G (p.Leu283Arg) | |
| X | g.154969387A>G | CA414917784 | F8 | c.953T>C (p.Leu318Pro) c.*829T>C (n.*829T>C) c.848T>C (p.Leu283Pro) | gnomAD v4 |
| X | g.154969387A>T | CA414917786 | F8 | c.953T>A (p.Leu318His) c.*829T>A (n.*829T>A) c.848T>A (p.Leu283His) | |
| X | g.154969388del | CA2695237435 | F8 | c.952del (p.Leu318SerfsTer2) c.*828del (n.*828del) c.847del (p.Leu283SerfsTer2) | |
| X | g.154969388G>A | CA414917789 | F8 | c.952C>T (p.Leu318Phe) c.*828C>T (n.*828C>T) c.847C>T (p.Leu283Phe) | dbSNP gnomAD v4 |
| X | g.154969388G>C | CA414917790 | F8 | c.952C>G (p.Leu318Val) c.*828C>G (n.*828C>G) c.847C>G (p.Leu283Val) | |
| X | g.154969388G= | CA2466848984 | F8 | c.952C= (p.Leu318=) c.*828C= (n.*828C=) c.847C= (p.Leu283=) | |
| X | g.154969388G>T | CA414917792 | F8 | c.952C>A (p.Leu318Ile) c.*828C>A (n.*828C>A) c.847C>A (p.Leu283Ile) | |
| X | g.154969389T>A | CA519367218 | F8 | c.951A>T (p.Thr317=) c.*827A>T (n.*827A>T) c.846A>T (p.Thr282=) | |
| X | g.154969389T>C | CA519367220 | F8 | c.951A>G (p.Thr317=) c.*827A>G (n.*827A>G) c.846A>G (p.Thr282=) | |
| X | g.154969389T>G | CA519367222 | F8 | c.951A>C (p.Thr317=) c.*827A>C (n.*827A>C) c.846A>C (p.Thr282=) | |
| X | g.154969391_154969394del | CA2695237437 | F8 | c.948_951del (p.Gln316HisfsTer3) c.*824_*827del (n.*824_*827del) c.843_846del (p.Gln281HisfsTer3) | |
| X | g.154969390G>A | CA414917793 | F8 | c.950C>T (p.Thr317Ile) c.*826C>T (n.*826C>T) c.845C>T (p.Thr282Ile) | |
| X | g.154969390G>C | CA414917795 | F8 | c.950C>G (p.Thr317Arg) c.*826C>G (n.*826C>G) c.845C>G (p.Thr282Arg) | |
| X | g.154969390G>T | CA414917797 | F8 | c.950C>A (p.Thr317Lys) c.*826C>A (n.*826C>A) c.845C>A (p.Thr282Lys) | |
| X | g.154969391T>A | CA414917801 | F8 | c.949A>T (p.Thr317Ser) c.*825A>T (n.*825A>T) c.844A>T (p.Thr282Ser) | |
| X | g.154969391T>C | CA414917799 | F8 | c.949A>G (p.Thr317Ala) c.*825A>G (n.*825A>G) c.844A>G (p.Thr282Ala) | |
| X | g.154969391T>G | CA414917800 | F8 | c.949A>C (p.Thr317Pro) c.*825A>C (n.*825A>C) c.844A>C (p.Thr282Pro) | |
| X | g.154969393dup | CA2695237438 | F8 | c.949dup (p.Thr317AsnfsTer21) c.*825dup (n.*825dup) c.844dup (p.Thr282AsnfsTer21) | |
| X | g.154969392T>A | CA414917802 | F8 | c.948A>T (p.Gln316His) c.*824A>T (n.*824A>T) c.843A>T (p.Gln281His) | |
| X | g.154969392T>C | CA519367230 | F8 | c.948A>G (p.Gln316=) c.*824A>G (n.*824A>G) c.843A>G (p.Gln281=) | |
| X | g.154969392T>G | CA414917803 | F8 | c.948A>C (p.Gln316His) c.*824A>C (n.*824A>C) c.843A>C (p.Gln281His) | |
| X | g.154969393T>A | CA414917804 | F8 | c.947A>T (p.Gln316Leu) c.*823A>T (n.*823A>T) c.842A>T (p.Gln281Leu) | |
| X | g.154969393T>C | CA414917807 | F8 | c.947A>G (p.Gln316Arg) c.*823A>G (n.*823A>G) c.842A>G (p.Gln281Arg) | |
| X | g.154969393T>G | CA414917809 | F8 | c.947A>C (p.Gln316Pro) c.*823A>C (n.*823A>C) c.842A>C (p.Gln281Pro) | |
| X | g.154969394G>A | CA414917812 | F8 | c.946C>T (p.Gln316Ter) c.*822C>T (n.*822C>T) c.841C>T (p.Gln281Ter) | |
| X | g.154969394G>C | CA414917813 | F8 | c.946C>G (p.Gln316Glu) c.*822C>G (n.*822C>G) c.841C>G (p.Gln281Glu) | gnomAD v4 |
| X | g.154969394G>T | CA414917815 | F8 | c.946C>A (p.Gln316Lys) c.*822C>A (n.*822C>A) c.841C>A (p.Gln281Lys) | |
| X | g.154969395A>C | CA519367239 | F8 | c.945T>G (p.Ala315=) c.*821T>G (n.*821T>G) c.840T>G (p.Ala280=) | |
| X | g.154969395A>G | CA519367242 | F8 | c.945T>C (p.Ala315=) c.*821T>C (n.*821T>C) c.840T>C (p.Ala280=) | |
| X | g.154969395A>T | CA519367243 | F8 | c.945T>A (p.Ala315=) c.*821T>A (n.*821T>A) c.840T>A (p.Ala280=) | |
| X | g.154969397_154969399dup | CA2695237441 | F8 | c.943_945dup (p.Ala315_Gln316insAla) c.*819_*821dup (n.*819_*821dup) c.838_840dup (p.Ala280_Gln281insAla) | |
| X | g.154969396G>A | CA414917816 | F8 | c.944C>T (p.Ala315Val) c.*820C>T (n.*820C>T) c.839C>T (p.Ala280Val) | gnomAD v4 |
| X | g.154969396G>C | CA414917817 | F8 | c.944C>G (p.Ala315Gly) c.*820C>G (n.*820C>G) c.839C>G (p.Ala280Gly) | ClinVar dbSNP |
| X | g.154969396G>T | CA414917818 | F8 | c.944C>A (p.Ala315Asp) c.*820C>A (n.*820C>A) c.839C>A (p.Ala280Asp) | |
| X | g.154969396_154969397delinsGC | CA2466848985 | F8 | c.943_944delinsGC (p.Ala315=) c.*819_*820delinsGC (n.*819_*820delinsGC) c.838_839delinsGC (p.Ala280=) | |
| X | g.154969397del | CA255085 | F8 | c.943del (p.Ala315LeufsTer5) c.*819del (n.*819del) c.838del (p.Ala280LeufsTer5) | ClinVar dbSNP |
| X | g.154969397C>A | CA414917823 | F8 | c.943G>T (p.Ala315Ser) c.*819G>T (n.*819G>T) c.838G>T (p.Ala280Ser) | |
| X | g.154969397C>G | CA414917825 | F8 | c.943G>C (p.Ala315Pro) c.*819G>C (n.*819G>C) c.838G>C (p.Ala280Pro) | |
| X | g.154969397C>T | CA414917820 | F8 | c.943G>A (p.Ala315Thr) c.*819G>A (n.*819G>A) c.838G>A (p.Ala280Thr) | |
| X | g.154969398del | CA2695237443 | F8 | c.942del (p.Ala315LeufsTer5) c.*818del (n.*818del) c.837del (p.Ala280LeufsTer5) | |
| X | g.154969398A>C | CA519367246 | F8 | c.942T>G (p.Thr314=) c.*818T>G (n.*818T>G) c.837T>G (p.Thr279=) | |
| X | g.154969398A>G | CA519367247 | F8 | c.942T>C (p.Thr314=) c.*818T>C (n.*818T>C) c.837T>C (p.Thr279=) | |
| X | g.154969398A>T | CA519367248 | F8 | c.942T>A (p.Thr314=) c.*818T>A (n.*818T>A) c.837T>A (p.Thr279=) | |
| X | g.154969399G>A | CA414917829 | F8 | c.941C>T (p.Thr314Ile) c.*817C>T (n.*817C>T) c.836C>T (p.Thr279Ile) | |
| X | g.154969399G>C | CA414917827 | F8 | c.941C>G (p.Thr314Ser) c.*817C>G (n.*817C>G) c.836C>G (p.Thr279Ser) | |
| X | g.154969399G= | CA2466848986 | F8 | c.941C= (p.Thr314=) c.*817C= (n.*817C=) c.836C= (p.Thr279=) | |
| X | g.154969399G>T | CA414917831 | F8 | c.941C>A (p.Thr314Asn) c.*817C>A (n.*817C>A) c.836C>A (p.Thr279Asn) | dbSNP |
| X | g.154969400T>A | CA414917833 | F8 | c.940A>T (p.Thr314Ser) c.*816A>T (n.*816A>T) c.835A>T (p.Thr279Ser) | |
| X | g.154969400T>C | CA255084 | F8 | c.940A>G (p.Thr314Ala) c.*816A>G (n.*816A>G) c.835A>G (p.Thr279Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.154969400T>G | CA414917836 | F8 | c.940A>C (p.Thr314Pro) c.*816A>C (n.*816A>C) c.835A>C (p.Thr279Pro) | ClinVar dbSNP |
| X | g.154969400T= | CA2466848987 | F8 | c.940A= (p.Thr314=) c.*816A= (n.*816A=) c.835A= (p.Thr279=) | |
| X | g.154969401A>C | CA519367261 | F8 | c.939T>G (p.Leu313=) c.*815T>G (n.*815T>G) c.834T>G (p.Leu278=) | |
| X | g.154969401A>G | CA519367264 | F8 | c.939T>C (p.Leu313=) c.*815T>C (n.*815T>C) c.834T>C (p.Leu278=) | |
| X | g.154969401A>T | CA519367266 | F8 | c.939T>A (p.Leu313=) c.*815T>A (n.*815T>A) c.834T>A (p.Leu278=) | |
| X | g.154969403_154969406del | CA2695237445 | F8 | c.936_939del (p.Phe312LeufsTer7) c.*812_*815del (n.*812_*815del) c.831_834del (p.Phe277LeufsTer7) | |
| X | g.154969402A>C | CA414917837 | F8 | c.938T>G (p.Leu313Arg) c.*814T>G (n.*814T>G) c.833T>G (p.Leu278Arg) | |
| X | g.154969402A>G | CA414917839 | F8 | c.938T>C (p.Leu313Pro) c.*814T>C (n.*814T>C) c.833T>C (p.Leu278Pro) | |
| X | g.154969402A>T | CA414917841 | F8 | c.938T>A (p.Leu313His) c.*814T>A (n.*814T>A) c.833T>A (p.Leu278His) | |
| X | g.154969403G>A | CA414917843 | F8 | c.937C>T (p.Leu313Phe) c.*813C>T (n.*813C>T) c.832C>T (p.Leu278Phe) | COSMIC COSMIC |
| X | g.154969403G>C | CA414917845 | F8 | c.937C>G (p.Leu313Val) c.*813C>G (n.*813C>G) c.832C>G (p.Leu278Val) | |
| X | g.154969403G>T | CA414917847 | F8 | c.937C>A (p.Leu313Ile) c.*813C>A (n.*813C>A) c.832C>A (p.Leu278Ile) | |
| X | g.154969404G>A | CA519367272 | F8 | c.936C>T (p.Phe312=) c.*812C>T (n.*812C>T) c.831C>T (p.Phe277=) | |
| X | g.154969404G>C | CA414917848 | F8 | c.936C>G (p.Phe312Leu) c.*812C>G (n.*812C>G) c.831C>G (p.Phe277Leu) | |
| X | g.154969404G>T | CA414917850 | F8 | c.936C>A (p.Phe312Leu) c.*812C>A (n.*812C>A) c.831C>A (p.Phe277Leu) | |
| X | g.154969405A= | CA2466848988 | F8 | c.935T= (p.Phe312=) c.*811T= (n.*811T=) c.830T= (p.Phe277=) | |
| X | g.154969405A>C | CA414917855 | F8 | c.935T>G (p.Phe312Cys) c.*811T>G (n.*811T>G) c.830T>G (p.Phe277Cys) | |
| X | g.154969405A>G | CA255083 | F8 | c.935T>C (p.Phe312Ser) c.*811T>C (n.*811T>C) c.830T>C (p.Phe277Ser) | ClinVar dbSNP gnomAD v4 |
| X | g.154969405A>T | CA414917852 | F8 | c.935T>A (p.Phe312Tyr) c.*811T>A (n.*811T>A) c.830T>A (p.Phe277Tyr) | |
| X | g.154969407del | CA2695237448 | F8 | c.935del (p.Phe312SerfsTer8) c.*811del (n.*811del) c.830del (p.Phe277SerfsTer8) | |
| X | g.154969406_154969407del | CA2695237449 | F8 | c.934_935del (p.Phe312ProfsTer25) c.*810_*811del (n.*810_*811del) c.829_830del (p.Phe277ProfsTer25) | |
| X | g.154969406A>C | CA414917856 | F8 | c.934T>G (p.Phe312Val) c.*810T>G (n.*810T>G) c.829T>G (p.Phe277Val) | |
| X | g.154969406A>G | CA414917857 | F8 | c.934T>C (p.Phe312Leu) c.*810T>C (n.*810T>C) c.829T>C (p.Phe277Leu) | |
| X | g.154969406A>T | CA414917858 | F8 | c.934T>A (p.Phe312Ile) c.*810T>A (n.*810T>A) c.829T>A (p.Phe277Ile) | |
| X | g.154969407A= | CA2466848989 | F8 | c.933T= (p.Thr311=) c.*809T= (n.*809T=) c.828T= (p.Thr276=) | |
| X | g.154969407A>C | CA519367289 | F8 | c.933T>G (p.Thr311=) c.*809T>G (n.*809T>G) c.828T>G (p.Thr276=) | |
| X | g.154969407A>G | CA519367291 | F8 | c.933T>C (p.Thr311=) c.*809T>C (n.*809T>C) c.828T>C (p.Thr276=) | gnomAD v4 |
| X | g.154969407A>T | CA10568524 | F8 | c.933T>A (p.Thr311=) c.*809T>A (n.*809T>A) c.828T>A (p.Thr276=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154969408G>A | CA414917860 | F8 | c.932C>T (p.Thr311Ile) c.*808C>T (n.*808C>T) c.827C>T (p.Thr276Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154969408G>C | CA414917862 | F8 | c.932C>G (p.Thr311Ser) c.*808C>G (n.*808C>G) c.827C>G (p.Thr276Ser) | |
| X | g.154969408G= | CA2466848990 | F8 | c.932C= (p.Thr311=) c.*808C= (n.*808C=) c.827C= (p.Thr276=) | |
| X | g.154969408G>T | CA414917865 | F8 | c.932C>A (p.Thr311Asn) c.*808C>A (n.*808C>A) c.827C>A (p.Thr276Asn) | |
| X | g.154969409T>A | CA414917868 | F8 | c.931A>T (p.Thr311Ser) c.*807A>T (n.*807A>T) c.826A>T (p.Thr276Ser) | |
| X | g.154969409T>C | CA414917870 | F8 | c.931A>G (p.Thr311Ala) c.*807A>G (n.*807A>G) c.826A>G (p.Thr276Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154969409T>G | CA414917872 | F8 | c.931A>C (p.Thr311Pro) c.*807A>C (n.*807A>C) c.826A>C (p.Thr276Pro) | |
| X | g.154969409T= | CA2466848991 | F8 | c.931A= (p.Thr311=) c.*807A= (n.*807A=) c.826A= (p.Thr276=) | |
| X | g.154969410T>A | CA519367301 | F8 | c.930A>T (p.Ile310=) c.*806A>T (n.*806A>T) c.825A>T (p.Ile275=) | |
| X | g.154969410T>C | CA414917874 | F8 | c.930A>G (p.Ile310Met) c.*806A>G (n.*806A>G) c.825A>G (p.Ile275Met) | COSMIC COSMIC |
| X | g.154969410T>G | CA519367305 | F8 | c.930A>C (p.Ile310=) c.*806A>C (n.*806A>C) c.825A>C (p.Ile275=) | |
| X | g.154969411A>C | CA414917878 | F8 | c.929T>G (p.Ile310Arg) c.*805T>G (n.*805T>G) c.824T>G (p.Ile275Arg) | |
| X | g.154969411A>G | CA414917877 | F8 | c.929T>C (p.Ile310Thr) c.*805T>C (n.*805T>C) c.824T>C (p.Ile275Thr) | |
| X | g.154969411A>T | CA414917876 | F8 | c.929T>A (p.Ile310Lys) c.*805T>A (n.*805T>A) c.824T>A (p.Ile275Lys) | |
| X | g.154969412T>A | CA414917880 | F8 | c.928A>T (p.Ile310Leu) c.*804A>T (n.*804A>T) c.823A>T (p.Ile275Leu) | |
| X | g.154969412T>C | CA414917882 | F8 | c.928A>G (p.Ile310Val) c.*804A>G (n.*804A>G) c.823A>G (p.Ile275Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154969412T>G | CA414917883 | F8 | c.928A>C (p.Ile310Leu) c.*804A>C (n.*804A>C) c.823A>C (p.Ile275Leu) | |
| X | g.154969412T= | CA2466848992 | F8 | c.928A= (p.Ile310=) c.*804A= (n.*804A=) c.823A= (p.Ile275=) | |
| X | g.154969413T>A | CA519367322 | F8 | c.927A>T (p.Pro309=) c.*803A>T (n.*803A>T) c.822A>T (p.Pro274=) | |
| X | g.154969413T>C | CA519367320 | F8 | c.927A>G (p.Pro309=) c.*803A>G (n.*803A>G) c.822A>G (p.Pro274=) | |
| X | g.154969413T>G | CA519367315 | F8 | c.927A>C (p.Pro309=) c.*803A>C (n.*803A>C) c.822A>C (p.Pro274=) | |
| X | g.154969414G>A | CA414917885 | F8 | c.926C>T (p.Pro309Leu) c.*802C>T (n.*802C>T) c.821C>T (p.Pro274Leu) | ClinVar dbSNP |
| X | g.154969414G>C | CA414917887 | F8 | c.926C>G (p.Pro309Arg) c.*802C>G (n.*802C>G) c.821C>G (p.Pro274Arg) | |
| X | g.154969414G= | CA2466848993 | F8 | c.926C= (p.Pro309=) c.*802C= (n.*802C=) c.821C= (p.Pro274=) | |
| X | g.154969414G>T | CA414917889 | F8 | c.926C>A (p.Pro309Gln) c.*802C>A (n.*802C>A) c.821C>A (p.Pro274Gln) | |
| X | g.154969415del | CA2739149510 | F8 | c.926del (p.Pro309GlnfsTer2) c.*802del (n.*802del) c.821del (p.Pro274GlnfsTer2) | dbSNP |
| X | g.154969415G>A | CA414917890 | F8 | c.925C>T (p.Pro309Ser) c.*801C>T (n.*801C>T) c.820C>T (p.Pro274Ser) | |
| X | g.154969415G>C | CA414917892 | F8 | c.925C>G (p.Pro309Ala) c.*801C>G (n.*801C>G) c.820C>G (p.Pro274Ala) | |
| X | g.154969415G>T | CA414917894 | F8 | c.925C>A (p.Pro309Thr) c.*801C>A (n.*801C>A) c.820C>A (p.Pro274Thr) | |
| X | g.154969416C>A | CA519367331 | F8 | c.924G>T (p.Ser308=) c.*800G>T (n.*800G>T) c.819G>T (p.Ser273=) | |
| X | g.154969416C= | CA2466848994 | F8 | c.924G= (p.Ser308=) c.*800G= (n.*800G=) c.819G= (p.Ser273=) | |
| X | g.154969416C>G | CA519367333 | F8 | c.924G>C (p.Ser308=) c.*800G>C (n.*800G>C) c.819G>C (p.Ser273=) | gnomAD v4 |
| X | g.154969416C>T | CA10568525 | F8 | c.924G>A (p.Ser308=) c.*800G>A (n.*800G>A) c.819G>A (p.Ser273=) | dbSNP ExAC gnomAD v4 COSMIC COSMIC |
| X | g.154969417G>A | CA255082 | F8 | c.923C>T (p.Ser308Leu) c.*799C>T (n.*799C>T) c.818C>T (p.Ser273Leu) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.154969417G>C | CA414917900 | F8 | c.923C>G (p.Ser308Trp) c.*799C>G (n.*799C>G) c.818C>G (p.Ser273Trp) | |
| X | g.154969417G= | CA2466848995 | F8 | c.923C= (p.Ser308=) c.*799C= (n.*799C=) c.818C= (p.Ser273=) | |
| X | g.154969417G>T | CA414917901 | F8 | c.923C>A (p.Ser308Ter) c.*799C>A (n.*799C>A) c.818C>A (p.Ser273Ter) | |
| X | g.154969417_154969422delinsGAGATT | CA2466848996 | F8 | c.918_923delinsAATCTC (p.Glu306=) c.*794_*799delinsAATCTC (n.*794_*799delinsAATCTC) c.813_818delinsAATCTC (p.Glu271=) | |
| X | g.154969418A>C | CA414917902 | F8 | c.922T>G (p.Ser308Ala) c.*798T>G (n.*798T>G) c.817T>G (p.Ser273Ala) | |
| X | g.154969418A>G | CA414917906 | F8 | c.922T>C (p.Ser308Pro) c.*798T>C (n.*798T>C) c.817T>C (p.Ser273Pro) | |
| X | g.154969418A>T | CA414917903 | F8 | c.922T>A (p.Ser308Thr) c.*798T>A (n.*798T>A) c.817T>A (p.Ser273Thr) | |
| X | g.154969418_154969422del | CA2466848997 | F8 | c.918_922del (p.Glu306AspfsTer30) c.*794_*798del (n.*794_*798del) c.813_817del (p.Glu271AspfsTer30) | dbSNP |
| X | g.154969419G>A | CA519367340 | F8 | c.921C>T (p.Ile307=) c.*797C>T (n.*797C>T) c.816C>T (p.Ile272=) | |
| X | g.154969419G>C | CA414917908 | F8 | c.921C>G (p.Ile307Met) c.*797C>G (n.*797C>G) c.816C>G (p.Ile272Met) | |
| X | g.154969419G>T | CA519367342 | F8 | c.921C>A (p.Ile307=) c.*797C>A (n.*797C>A) c.816C>A (p.Ile272=) | |
| X | g.154969420A= | CA2466848998 | F8 | c.920T= (p.Ile307=) c.*796T= (n.*796T=) c.815T= (p.Ile272=) | |
| X | g.154969420A>C | CA414917909 | F8 | c.920T>G (p.Ile307Ser) c.*796T>G (n.*796T>G) c.815T>G (p.Ile272Ser) | |
| X | g.154969420A>G | CA414917910 | F8 | c.920T>C (p.Ile307Thr) c.*796T>C (n.*796T>C) c.815T>C (p.Ile272Thr) | dbSNP |
| X | g.154969420A>T | CA414917911 | F8 | c.920T>A (p.Ile307Asn) c.*796T>A (n.*796T>A) c.815T>A (p.Ile272Asn) | |
| X | g.154969421T>A | CA414917913 | F8 | c.919A>T (p.Ile307Phe) c.*795A>T (n.*795A>T) c.814A>T (p.Ile272Phe) | |
| X | g.154969421T>C | CA10568526 | F8 | c.919A>G (p.Ile307Val) c.*795A>G (n.*795A>G) c.814A>G (p.Ile272Val) | dbSNP ExAC |
| X | g.154969421T>G | CA414917915 | F8 | c.919A>C (p.Ile307Leu) c.*795A>C (n.*795A>C) c.814A>C (p.Ile272Leu) | |
| X | g.154969421T= | CA2466848999 | F8 | c.919A= (p.Ile307=) c.*795A= (n.*795A=) c.814A= (p.Ile272=) | |
| X | g.154969423del | CA2695237453 | F8 | c.919del (p.Ile307SerfsTer4) c.*795del (n.*795del) c.814del (p.Ile272SerfsTer4) | |
| X | g.154969422T>A | CA414917917 | F8 | c.918A>T (p.Glu306Asp) c.*794A>T (n.*794A>T) c.813A>T (p.Glu271Asp) | |
| X | g.154969422T>C | CA519367354 | F8 | c.918A>G (p.Glu306=) c.*794A>G (n.*794A>G) c.813A>G (p.Glu271=) | |
| X | g.154969422T>G | CA414917919 | F8 | c.918A>C (p.Glu306Asp) c.*794A>C (n.*794A>C) c.813A>C (p.Glu271Asp) | |
| X | g.154969423T>A | CA414917924 | F8 | c.917A>T (p.Glu306Val) c.*793A>T (n.*793A>T) c.812A>T (p.Glu271Val) | |
| X | g.154969423T>C | CA414917923 | F8 | c.917A>G (p.Glu306Gly) c.*793A>G (n.*793A>G) c.812A>G (p.Glu271Gly) | |
| X | g.154969423T>G | CA414917921 | F8 | c.917A>C (p.Glu306Ala) c.*793A>C (n.*793A>C) c.812A>C (p.Glu271Ala) | |
| X | g.154969424C>A | CA414917926 | F8 | c.916G>T (p.Glu306Ter) c.*792G>T (n.*792G>T) c.811G>T (p.Glu271Ter) | |
| X | g.154969424C>G | CA414917930 | F8 | c.916G>C (p.Glu306Gln) c.*792G>C (n.*792G>C) c.811G>C (p.Glu271Gln) | |
| X | g.154969424C>T | CA414917928 | F8 | c.916G>A (p.Glu306Lys) c.*792G>A (n.*792G>A) c.811G>A (p.Glu271Lys) | |
| X | g.154969425C>A | CA414917932 | F8 | c.915G>T (p.Leu305Phe) c.*791G>T (n.*791G>T) c.810G>T (p.Leu270Phe) | |
| X | g.154969425C= | CA2466849000 | F8 | c.915G= (p.Leu305=) c.*791G= (n.*791G=) c.810G= (p.Leu270=) | |
| X | g.154969425C>G | CA414917934 | F8 | c.915G>C (p.Leu305Phe) c.*791G>C (n.*791G>C) c.810G>C (p.Leu270Phe) | |
| X | g.154969425C>T | CA10568527 | F8 | c.915G>A (p.Leu305=) c.*791G>A (n.*791G>A) c.810G>A (p.Leu270=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.154969426A= | CA2466849001 | F8 | c.914T= (p.Leu305=) c.*790T= (n.*790T=) c.809T= (p.Leu270=) | |
| X | g.154969426A>C | CA414917937 | F8 | c.914T>G (p.Leu305Trp) c.*790T>G (n.*790T>G) c.809T>G (p.Leu270Trp) | dbSNP |
| X | g.154969426A>G | CA414917938 | F8 | c.914T>C (p.Leu305Ser) c.*790T>C (n.*790T>C) c.809T>C (p.Leu270Ser) | dbSNP |
| X | g.154969426A>T | CA414917940 | F8 | c.914T>A (p.Leu305Ter) c.*790T>A (n.*790T>A) c.809T>A (p.Leu270Ter) | dbSNP |
| X | g.154969427A= | CA2466849002 | F8 | c.913T= (p.Leu305=) c.*789T= (n.*789T=) c.808T= (p.Leu270=) | |
| X | g.154969427A>C | CA414917942 | F8 | c.913T>G (p.Leu305Val) c.*789T>G (n.*789T>G) c.808T>G (p.Leu270Val) | |
| X | g.154969427A>G | CA519367365 | F8 | c.913T>C (p.Leu305=) c.*789T>C (n.*789T>C) c.808T>C (p.Leu270=) | |
| X | g.154969427A>T | CA414917944 | F8 | c.913T>A (p.Leu305Met) c.*789T>A (n.*789T>A) c.808T>A (p.Leu270Met) | dbSNP |
| X | g.154969428G>A | CA519367368 | F8 | c.912C>T (p.Ser304=) c.*788C>T (n.*788C>T) c.807C>T (p.Ser269=) | |
| X | g.154969428G>C | CA519367370 | F8 | c.912C>G (p.Ser304=) c.*788C>G (n.*788C>G) c.807C>G (p.Ser269=) | |
| X | g.154969428G>T | CA519367372 | F8 | c.912C>A (p.Ser304=) c.*788C>A (n.*788C>A) c.807C>A (p.Ser269=) | |
| X | g.154969429G>A | CA414917949 | F8 | c.911C>T (p.Ser304Phe) c.*787C>T (n.*787C>T) c.806C>T (p.Ser269Phe) | |
| X | g.154969429G>C | CA414917951 | F8 | c.911C>G (p.Ser304Cys) c.*787C>G (n.*787C>G) c.806C>G (p.Ser269Cys) | |
| X | g.154969429G>T | CA414917953 | F8 | c.911C>A (p.Ser304Tyr) c.*787C>A (n.*787C>A) c.806C>A (p.Ser269Tyr) | |
| X | g.154969430A= | CA2466849003 | F8 | c.910T= (p.Ser304=) c.*786T= (n.*786T=) c.805T= (p.Ser269=) | |
| X | g.154969430A>C | CA414917957 | F8 | c.910T>G (p.Ser304Ala) c.*786T>G (n.*786T>G) c.805T>G (p.Ser269Ala) | |
| X | g.154969430A>G | CA414917955 | F8 | c.910T>C (p.Ser304Pro) c.*786T>C (n.*786T>C) c.805T>C (p.Ser269Pro) | |
| X | g.154969430A>T | CA414917956 | F8 | c.910T>A (p.Ser304Thr) c.*786T>A (n.*786T>A) c.805T>A (p.Ser269Thr) | |
| X | g.154969430_154969431insAATCT | CA2466849005 | F8 | c.909_910insAGATT (p.Ser304ArgfsTer9) c.*785_*786insAGATT (n.*785_*786insAGATT) c.804_805insAGATT (p.Ser269ArgfsTer9) | dbSNP |
| X | g.154969431C>A | CA519367386 | F8 | c.909G>T (p.Ala303=) c.*785G>T (n.*785G>T) c.804G>T (p.Ala268=) | |
| X | g.154969431C= | CA2466849004 | F8 | c.909G= (p.Ala303=) c.*785G= (n.*785G=) c.804G= (p.Ala268=) | |
| X | g.154969431C>G | CA519367381 | F8 | c.909G>C (p.Ala303=) c.*785G>C (n.*785G>C) c.804G>C (p.Ala268=) | |
| X | g.154969431C>T | CA10568528 | F8 | c.909G>A (p.Ala303=) c.*785G>A (n.*785G>A) c.804G>A (p.Ala268=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154969433_154969439del | CA2695237454 | F8 | c.903_909del (p.Gln302ProfsTer7) c.*779_*785del (n.*779_*785del) c.798_804del (p.Gln267ProfsTer7) | |
| X | g.154969432G>A | CA337337547 | F8 | c.908C>T (p.Ala303Val) c.*784C>T (n.*784C>T) c.803C>T (p.Ala268Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154969432G>C | CA414917958 | F8 | c.908C>G (p.Ala303Gly) c.*784C>G (n.*784C>G) c.803C>G (p.Ala268Gly) | |
| X | g.154969432G= | CA2466849007 | F8 | c.908C= (p.Ala303=) c.*784C= (n.*784C=) c.803C= (p.Ala268=) | |
| X | g.154969432G>T | CA414917960 | F8 | c.908C>A (p.Ala303Glu) c.*784C>A (n.*784C>A) c.803C>A (p.Ala268Glu) | gnomAD v4 |
| X | g.154969432_154969433delinsGC | CA2466849006 | F8 | c.907_908delinsGC (p.Ala303=) c.*783_*784delinsGC (n.*783_*784delinsGC) c.802_803delinsGC (p.Ala268=) | |
| X | g.154969433C>A | CA414917964 | F8 | c.907G>T (p.Ala303Ser) c.*783G>T (n.*783G>T) c.802G>T (p.Ala268Ser) | gnomAD v4 |
| X | g.154969433C= | CA2466849008 | F8 | c.907G= (p.Ala303=) c.*783G= (n.*783G=) c.802G= (p.Ala268=) | |
| X | g.154969433C>G | CA414917966 | F8 | c.907G>C (p.Ala303Pro) c.*783G>C (n.*783G>C) c.802G>C (p.Ala268Pro) | dbSNP |
| X | g.154969433C>T | CA414917967 | F8 | c.907G>A (p.Ala303Thr) c.*783G>A (n.*783G>A) c.802G>A (p.Ala268Thr) | |
| X | g.154969434del | CA255081 | F8 | c.907del (p.Ala303ArgfsTer8) c.*783del (n.*783del) c.802del (p.Ala268ArgfsTer8) | ClinVar dbSNP |
| X | g.154969434C>A | CA414917973 | F8 | c.906G>T (p.Gln302His) c.*782G>T (n.*782G>T) c.801G>T (p.Gln267His) | |
| X | g.154969434C= | CA2466849010 | F8 | c.906G= (p.Gln302=) c.*782G= (n.*782G=) c.801G= (p.Gln267=) | |
| X | g.154969434C>G | CA414917975 | F8 | c.906G>C (p.Gln302His) c.*782G>C (n.*782G>C) c.801G>C (p.Gln267His) | |
| X | g.154969434C>T | CA519367392 | F8 | c.906G>A (p.Gln302=) c.*782G>A (n.*782G>A) c.801G>A (p.Gln267=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154969434_154969435insAATAAC | CA2466849009 | F8 | c.906_907insTTATTG (p.Gln302_Ala303insLeuLeu) c.*782_*783insTTATTG (n.*782_*783insTTATTG) c.801_802insTTATTG (p.Gln267_Ala268insLeuLeu) | dbSNP |
| X | g.154969434_154969436del | CA2695237457 | F8 | c.904_906del (p.Gln302del) c.*780_*782del (n.*780_*782del) c.799_801del (p.Gln267del) | |
| X | g.154969435T>A | CA414917980 | F8 | c.905A>T (p.Gln302Leu) c.*781A>T (n.*781A>T) c.800A>T (p.Gln267Leu) | |
| X | g.154969435T>C | CA414917979 | F8 | c.905A>G (p.Gln302Arg) c.*781A>G (n.*781A>G) c.800A>G (p.Gln267Arg) | |
| X | g.154969435T>G | CA414917978 | F8 | c.905A>C (p.Gln302Pro) c.*781A>C (n.*781A>C) c.800A>C (p.Gln267Pro) | |
| X | g.154969436G>A | CA414917981 | F8 | c.904C>T (p.Gln302Ter) c.*780C>T (n.*780C>T) c.799C>T (p.Gln267Ter) | dbSNP |
| X | g.154969436G>C | CA414917982 | F8 | c.904C>G (p.Gln302Glu) c.*780C>G (n.*780C>G) c.799C>G (p.Gln267Glu) | |
| X | g.154969436G= | CA2466849011 | F8 | c.904C= (p.Gln302=) c.*780C= (n.*780C=) c.799C= (p.Gln267=) | |
| X | g.154969436G>T | CA414917984 | F8 | c.904C>A (p.Gln302Lys) c.*780C>A (n.*780C>A) c.799C>A (p.Gln267Lys) | COSMIC COSMIC |
| X | g.154969437G>A | CA519367402 | F8 | c.903C>T (p.Arg301=) c.*779C>T (n.*779C>T) c.798C>T (p.Arg266=) | dbSNP gnomAD v4 |
| X | g.154969437G>C | CA519367404 | F8 | c.903C>G (p.Arg301=) c.*779C>G (n.*779C>G) c.798C>G (p.Arg266=) | |
| X | g.154969437G= | CA2466849012 | F8 | c.903C= (p.Arg301=) c.*779C= (n.*779C=) c.798C= (p.Arg266=) | |
| X | g.154969437G>T | CA519367406 | F8 | c.903C>A (p.Arg301=) c.*779C>A (n.*779C>A) c.798C>A (p.Arg266=) | |
| X | g.154969438C>A | CA255080 | F8 | c.902G>T (p.Arg301Leu) c.*778G>T (n.*778G>T) c.797G>T (p.Arg266Leu) | ClinVar dbSNP |
| X | g.154969438C= | CA2466849013 | F8 | c.902G= (p.Arg301=) c.*778G= (n.*778G=) c.797G= (p.Arg266=) | |
| X | g.154969438C>G | CA414917987 | F8 | c.902G>C (p.Arg301Pro) c.*778G>C (n.*778G>C) c.797G>C (p.Arg266Pro) | |
| X | g.154969438C>T | CA255079 | F8 | c.902G>A (p.Arg301His) c.*778G>A (n.*778G>A) c.797G>A (p.Arg266His) | ClinVar dbSNP |
| X | g.154969438dup | CA2695237460 | F8 | c.902dup (p.Gln302ProfsTer?) c.*778dup (n.*778dup) c.797dup (p.Gln267ProfsTer?) | |
| X | g.154969438_154969450delinsAATTTC | CA2695237459 | F8 | c.890_902delinsGAAATT (p.Val297GlyfsTer12) c.*766_*778delinsGAAATT (n.*766_*778delinsGAAATT) c.785_797delinsGAAATT (p.Val262GlyfsTer12) | |
| X | g.154969439G>A | CA414917990 | F8 | c.901C>T (p.Arg301Cys) c.*777C>T (n.*777C>T) c.796C>T (p.Arg266Cys) | ClinVar dbSNP |
| X | g.154969439G>C | CA414917992 | F8 | c.901C>G (p.Arg301Gly) c.*777C>G (n.*777C>G) c.796C>G (p.Arg266Gly) | |
| X | g.154969439G= | CA2466849014 | F8 | c.901C= (p.Arg301=) c.*777C= (n.*777C=) c.796C= (p.Arg266=) | |
| X | g.154969439G>T | CA414917994 | F8 | c.901C>A (p.Arg301Ser) c.*777C>A (n.*777C>A) c.796C>A (p.Arg266Ser) | COSMIC COSMIC |
| X | g.154969440_154969443dup | CA873345583 | F8 | c.898_901dup (p.Arg301ProfsTer?) c.*774_*777dup (n.*774_*777dup) c.793_796dup (p.Arg266ProfsTer?) | dbSNP |
| X | g.154969440A>C | CA414917995 | F8 | c.900T>G (p.His300Gln) c.*776T>G (n.*776T>G) c.795T>G (p.His265Gln) | |
| X | g.154969440A>G | CA519367414 | F8 | c.900T>C (p.His300=) c.*776T>C (n.*776T>C) c.795T>C (p.His265=) | |
| X | g.154969440A>T | CA414917996 | F8 | c.900T>A (p.His300Gln) c.*776T>A (n.*776T>A) c.795T>A (p.His265Gln) | |
| X | g.154969441T>A | CA414918000 | F8 | c.899A>T (p.His300Leu) c.*775A>T (n.*775A>T) c.794A>T (p.His265Leu) | |
| X | g.154969441T>C | CA414917999 | F8 | c.899A>G (p.His300Arg) c.*775A>G (n.*775A>G) c.794A>G (p.His265Arg) | |
| X | g.154969441T>G | CA414917997 | F8 | c.899A>C (p.His300Pro) c.*775A>C (n.*775A>C) c.794A>C (p.His265Pro) | dbSNP |
| X | g.154969441T= | CA2466849015 | F8 | c.899A= (p.His300=) c.*775A= (n.*775A=) c.794A= (p.His265=) | |
| X | g.154969442G>A | CA414918002 | F8 | c.898C>T (p.His300Tyr) c.*774C>T (n.*774C>T) c.793C>T (p.His265Tyr) | |
| X | g.154969442G>C | CA414918003 | F8 | c.898C>G (p.His300Asp) c.*774C>G (n.*774C>G) c.793C>G (p.His265Asp) | |
| X | g.154969442G>T | CA414918005 | F8 | c.898C>A (p.His300Asn) c.*774C>A (n.*774C>A) c.793C>A (p.His265Asn) | |
| X | g.154969443G>A | CA519367425 | F8 | c.897C>T (p.Asn299=) c.*773C>T (n.*773C>T) c.792C>T (p.Asn264=) | |
| X | g.154969443G>C | CA414918007 | F8 | c.897C>G (p.Asn299Lys) c.*773C>G (n.*773C>G) c.792C>G (p.Asn264Lys) | |
| X | g.154969443G>T | CA414918009 | F8 | c.897C>A (p.Asn299Lys) c.*773C>A (n.*773C>A) c.792C>A (p.Asn264Lys) | |
| X | g.154969443_154969444insCGACGCCTTG | CA2580101795 | F8 | c.897_898insAAGGCGTCGC (p.His300LysfsTer?) c.*773_*774insAAGGCGTCGC (n.*773_*774insAAGGCGTCGC) c.792_793insAAGGCGTCGC (p.His265LysfsTer?) | ClinVar |
| X | g.154969444T>A | CA255078 | F8 | c.896A>T (p.Asn299Ile) c.*772A>T (n.*772A>T) c.791A>T (p.Asn264Ile) | ClinVar dbSNP |
| X | g.154969444T>C | CA414918012 | F8 | c.896A>G (p.Asn299Ser) c.*772A>G (n.*772A>G) c.791A>G (p.Asn264Ser) | |
| X | g.154969444T>G | CA414918013 | F8 | c.896A>C (p.Asn299Thr) c.*772A>C (n.*772A>C) c.791A>C (p.Asn264Thr) | |
| X | g.154969444T= | CA2466849016 | F8 | c.896A= (p.Asn299=) c.*772A= (n.*772A=) c.791A= (p.Asn264=) | |
| X | g.154969444_154969445insAATATCTTGGATC | CA2466849017 | F8 | c.895_896insGATCCAAGATATT (p.Asn299ArgfsTer?) c.*771_*772insGATCCAAGATATT (n.*771_*772insGATCCAAGATATT) c.790_791insGATCCAAGATATT (p.Asn264ArgfsTer?) | dbSNP |
| X | g.154969445T>A | CA414918016 | F8 | c.895A>T (p.Asn299Tyr) c.*771A>T (n.*771A>T) c.790A>T (p.Asn264Tyr) | |
| X | g.154969445T>C | CA414918018 | F8 | c.895A>G (p.Asn299Asp) c.*771A>G (n.*771A>G) c.790A>G (p.Asn264Asp) | |
| X | g.154969445T>G | CA414918020 | F8 | c.895A>C (p.Asn299His) c.*771A>C (n.*771A>C) c.790A>C (p.Asn264His) | |
| X | g.154969446C>A | CA414918022 | F8 | c.894G>T (p.Arg298Ser) c.*770G>T (n.*770G>T) c.789G>T (p.Arg263Ser) | COSMIC COSMIC |
| X | g.154969446C>G | CA414918026 | F8 | c.894G>C (p.Arg298Ser) c.*770G>C (n.*770G>C) c.789G>C (p.Arg263Ser) | |
| X | g.154969446C>T | CA519367440 | F8 | c.894G>A (p.Arg298=) c.*770G>A (n.*770G>A) c.789G>A (p.Arg263=) | |
| X | g.154969447C>A | CA414918030 | F8 | c.893G>T (p.Arg298Met) c.*769G>T (n.*769G>T) c.788G>T (p.Arg263Met) | |
| X | g.154969447C>G | CA414918032 | F8 | c.893G>C (p.Arg298Thr) c.*769G>C (n.*769G>C) c.788G>C (p.Arg263Thr) | |
| X | g.154969447C>T | CA414918028 | F8 | c.893G>A (p.Arg298Lys) c.*769G>A (n.*769G>A) c.788G>A (p.Arg263Lys) | |
| X | g.154969448T>A | CA414918036 | F8 | c.892A>T (p.Arg298Trp) c.*768A>T (n.*768A>T) c.787A>T (p.Arg263Trp) | |
| X | g.154969448T>C | CA414918034 | F8 | c.892A>G (p.Arg298Gly) c.*768A>G (n.*768A>G) c.787A>G (p.Arg263Gly) | |
| X | g.154969448T>G | CA519367446 | F8 | c.892A>C (p.Arg298=) c.*768A>C (n.*768A>C) c.787A>C (p.Arg263=) | |
| X | g.154969449C>A | CA519367448 | F8 | c.891G>T (p.Val297=) c.*767G>T (n.*767G>T) c.786G>T (p.Val262=) | |
| X | g.154969449C= | CA2466849018 | F8 | c.891G= (p.Val297=) c.*767G= (n.*767G=) c.786G= (p.Val262=) | |
| X | g.154969449C>G | CA519367450 | F8 | c.891G>C (p.Val297=) c.*767G>C (n.*767G>C) c.786G>C (p.Val262=) | |
| X | g.154969449C>T | CA519367453 | F8 | c.891G>A (p.Val297=) c.*767G>A (n.*767G>A) c.786G>A (p.Val262=) | dbSNP |
| X | g.154969450A= | CA2466849019 | F8 | c.890T= (p.Val297=) c.*766T= (n.*766T=) c.785T= (p.Val262=) | |
| X | g.154969450A>C | CA414918040 | F8 | c.890T>G (p.Val297Gly) c.*766T>G (n.*766T>G) c.785T>G (p.Val262Gly) | |
| X | g.154969450A>G | CA414918038 | F8 | c.890T>C (p.Val297Ala) c.*766T>C (n.*766T>C) c.785T>C (p.Val262Ala) | dbSNP |
| X | g.154969450A>T | CA414918041 | F8 | c.890T>A (p.Val297Glu) c.*766T>A (n.*766T>A) c.785T>A (p.Val262Glu) | |
| X | g.154969451del | CA2695237462 | F8 | c.889del (p.Val297Ter) c.*765del (n.*765del) c.784del (p.Val262Ter) | |
| X | g.154969451C>A | CA414918043 | F8 | c.889G>T (p.Val297Leu) c.*765G>T (n.*765G>T) c.784G>T (p.Val262Leu) | |
| X | g.154969451C>G | CA414918051 | F8 | c.889G>C (p.Val297Leu) c.*765G>C (n.*765G>C) c.784G>C (p.Val262Leu) | |
| X | g.154969451C>T | CA414918045 | F8 | c.889G>A (p.Val297Met) c.*765G>A (n.*765G>A) c.784G>A (p.Val262Met) | |
| X | g.154969452A>C | CA519367463 | F8 | c.888T>G (p.Leu296=) c.*764T>G (n.*764T>G) c.783T>G (p.Leu261=) | |
| X | g.154969452A>G | CA519367464 | F8 | c.888T>C (p.Leu296=) c.*764T>C (n.*764T>C) c.783T>C (p.Leu261=) | |
| X | g.154969452A>T | CA519367466 | F8 | c.888T>A (p.Leu296=) c.*764T>A (n.*764T>A) c.783T>A (p.Leu261=) | |
| X | g.154969453A>C | CA414918053 | F8 | c.887T>G (p.Leu296Arg) c.*763T>G (n.*763T>G) c.782T>G (p.Leu261Arg) | |
| X | g.154969453A>G | CA414918057 | F8 | c.887T>C (p.Leu296Pro) c.*763T>C (n.*763T>C) c.782T>C (p.Leu261Pro) | |
| X | g.154969453A>T | CA414918056 | F8 | c.887T>A (p.Leu296His) c.*763T>A (n.*763T>A) c.782T>A (p.Leu261His) | |
| X | g.154969454G>A | CA414918059 | F8 | c.886C>T (p.Leu296Phe) c.*762C>T (n.*762C>T) c.781C>T (p.Leu261Phe) | COSMIC COSMIC |
| X | g.154969454G>C | CA414918062 | F8 | c.886C>G (p.Leu296Val) c.*762C>G (n.*762C>G) c.781C>G (p.Leu261Val) | |
| X | g.154969454G>T | CA414918064 | F8 | c.886C>A (p.Leu296Ile) c.*762C>A (n.*762C>A) c.781C>A (p.Leu261Ile) | |
| X | g.154969455A>C | CA414918066 | F8 | c.885T>G (p.Phe295Leu) c.*761T>G (n.*761T>G) c.780T>G (p.Phe260Leu) | |
| X | g.154969455A>G | CA519367477 | F8 | c.885T>C (p.Phe295=) c.*761T>C (n.*761T>C) c.780T>C (p.Phe260=) | |
| X | g.154969455A>T | CA414918068 | F8 | c.885T>A (p.Phe295Leu) c.*761T>A (n.*761T>A) c.780T>A (p.Phe260Leu) | |
| X | g.154969456A>C | CA414918071 | F8 | c.884T>G (p.Phe295Cys) c.*760T>G (n.*760T>G) c.779T>G (p.Phe260Cys) | |
| X | g.154969456A>G | CA414918072 | F8 | c.884T>C (p.Phe295Ser) c.*760T>C (n.*760T>C) c.779T>C (p.Phe260Ser) | |
| X | g.154969456A>T | CA414918074 | F8 | c.884T>A (p.Phe295Tyr) c.*760T>A (n.*760T>A) c.779T>A (p.Phe260Tyr) | |
| X | g.154969457A>C | CA414918076 | F8 | c.883T>G (p.Phe295Val) c.*759T>G (n.*759T>G) c.778T>G (p.Phe260Val) | |
| X | g.154969457A>G | CA414918080 | F8 | c.883T>C (p.Phe295Leu) c.*759T>C (n.*759T>C) c.778T>C (p.Phe260Leu) | |
| X | g.154969457A>T | CA414918082 | F8 | c.883T>A (p.Phe295Ile) c.*759T>A (n.*759T>A) c.778T>A (p.Phe260Ile) | |
| X | g.154969457_154969459delinsATG | CA2466849020 | F8 | c.881_883delinsCAT (p.Thr294=) c.*757_*759delinsCAT (n.*757_*759delinsCAT) c.776_778delinsCAT (p.Thr259=) | |
| X | g.154969458T>A | CA519367488 | F8 | c.882A>T (p.Thr294=) c.*758A>T (n.*758A>T) c.777A>T (p.Thr259=) | |
| X | g.154969458T>C | CA519367485 | F8 | c.882A>G (p.Thr294=) c.*758A>G (n.*758A>G) c.777A>G (p.Thr259=) | |
| X | g.154969458T>G | CA519367487 | F8 | c.882A>C (p.Thr294=) c.*758A>C (n.*758A>C) c.777A>C (p.Thr259=) | |
| X | g.154969462_154969463del | CA2466849021 | F8 | c.881_882del (p.Thr294IlefsTer?) c.*757_*758del (n.*757_*758del) c.776_777del (p.Thr259IlefsTer?) | dbSNP |
| X | g.154969459G>A | CA255077 | F8 | c.881C>T (p.Thr294Ile) c.*757C>T (n.*757C>T) c.776C>T (p.Thr259Ile) | ClinVar dbSNP |
| X | g.154969459G>C | CA414918087 | F8 | c.881C>G (p.Thr294Arg) c.*757C>G (n.*757C>G) c.776C>G (p.Thr259Arg) | ClinVar |
| X | g.154969459G= | CA2466849022 | F8 | c.881C= (p.Thr294=) c.*757C= (n.*757C=) c.776C= (p.Thr259=) | |
| X | g.154969459G>T | CA414918084 | F8 | c.881C>A (p.Thr294Lys) c.*757C>A (n.*757C>A) c.776C>A (p.Thr259Lys) | |
| X | g.154969460T>A | CA414918090 | F8 | c.880A>T (p.Thr294Ser) c.*756A>T (n.*756A>T) c.775A>T (p.Thr259Ser) | COSMIC COSMIC |
| X | g.154969460T>C | CA414918091 | F8 | c.880A>G (p.Thr294Ala) c.*756A>G (n.*756A>G) c.775A>G (p.Thr259Ala) | |
| X | g.154969460T>G | CA414918093 | F8 | c.880A>C (p.Thr294Pro) c.*756A>C (n.*756A>C) c.775A>C (p.Thr259Pro) | |
| X | g.154969461G>A | CA10568529 | F8 | c.879C>T (p.His293=) c.*755C>T (n.*755C>T) c.774C>T (p.His258=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154969461G>C | CA414918095 | F8 | c.879C>G (p.His293Gln) c.*755C>G (n.*755C>G) c.774C>G (p.His258Gln) | |
| X | g.154969461G= | CA2466849023 | F8 | c.879C= (p.His293=) c.*755C= (n.*755C=) c.774C= (p.His258=) | |
| X | g.154969461G>T | CA414918096 | F8 | c.879C>A (p.His293Gln) c.*755C>A (n.*755C>A) c.774C>A (p.His258Gln) | |
| X | g.154969462T>A | CA414918098 | F8 | c.878A>T (p.His293Leu) c.*754A>T (n.*754A>T) c.773A>T (p.His258Leu) | |
| X | g.154969462T>C | CA414918100 | F8 | c.878A>G (p.His293Arg) c.*754A>G (n.*754A>G) c.773A>G (p.His258Arg) | dbSNP |
| X | g.154969462T>G | CA414918102 | F8 | c.878A>C (p.His293Pro) c.*754A>C (n.*754A>C) c.773A>C (p.His258Pro) | gnomAD v4 |
| X | g.154969462T= | CA2466849024 | F8 | c.878A= (p.His293=) c.*754A= (n.*754A=) c.773A= (p.His258=) | |
| X | g.154969463G>A | CA414918105 | F8 | c.877C>T (p.His293Tyr) c.*753C>T (n.*753C>T) c.772C>T (p.His258Tyr) | |
| X | g.154969463G>C | CA414918107 | F8 | c.877C>G (p.His293Asp) c.*753C>G (n.*753C>G) c.772C>G (p.His258Asp) | ClinVar dbSNP |
| X | g.154969463G= | CA2466849025 | F8 | c.877C= (p.His293=) c.*753C= (n.*753C=) c.772C= (p.His258=) | |
| X | g.154969463G>T | CA414918108 | F8 | c.877C>A (p.His293Asn) c.*753C>A (n.*753C>A) c.772C>A (p.His258Asn) | |
| X | g.154969464A>C | CA519367503 | F8 | c.876T>G (p.Gly292=) c.*752T>G (n.*752T>G) c.771T>G (p.Gly257=) | |
| X | g.154969464A>G | CA519367504 | F8 | c.876T>C (p.Gly292=) c.*752T>C (n.*752T>C) c.771T>C (p.Gly257=) | |
| X | g.154969464A>T | CA519367505 | F8 | c.876T>A (p.Gly292=) c.*752T>A (n.*752T>A) c.771T>A (p.Gly257=) | |
| X | g.154969465C>A | CA414918110 | F8 | c.875G>T (p.Gly292Val) c.*751G>T (n.*751G>T) c.770G>T (p.Gly257Val) | |
| X | g.154969465C= | CA2466849026 | F8 | c.875G= (p.Gly292=) c.*751G= (n.*751G=) c.770G= (p.Gly257=) | |
| X | g.154969465C>G | CA414918114 | F8 | c.875G>C (p.Gly292Ala) c.*751G>C (n.*751G>C) c.770G>C (p.Gly257Ala) | |
| X | g.154969465C>T | CA414918112 | F8 | c.875G>A (p.Gly292Asp) c.*751G>A (n.*751G>A) c.770G>A (p.Gly257Asp) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154969466C>A | CA414918116 | F8 | c.874G>T (p.Gly292Cys) c.*750G>T (n.*750G>T) c.769G>T (p.Gly257Cys) | |
| X | g.154969466C>G | CA414918120 | F8 | c.874G>C (p.Gly292Arg) c.*750G>C (n.*750G>C) c.769G>C (p.Gly257Arg) | |
| X | g.154969466C>T | CA414918121 | F8 | c.874G>A (p.Gly292Ser) c.*750G>A (n.*750G>A) c.769G>A (p.Gly257Ser) | |
| X | g.154969467T>A | CA414918122 | F8 | c.873A>T (p.Glu291Asp) c.*749A>T (n.*749A>T) c.768A>T (p.Glu256Asp) | |
| X | g.154969467T>C | CA519367512 | F8 | c.873A>G (p.Glu291=) c.*749A>G (n.*749A>G) c.768A>G (p.Glu256=) | |
| X | g.154969467T>G | CA414918124 | F8 | c.873A>C (p.Glu291Asp) c.*749A>C (n.*749A>C) c.768A>C (p.Glu256Asp) | |
| X | g.154969468T>A | CA414918127 | F8 | c.872A>T (p.Glu291Val) c.*748A>T (n.*748A>T) c.767A>T (p.Glu256Val) | |
| X | g.154969468T>C | CA255017 | F8 | c.872A>G (p.Glu291Gly) c.*748A>G (n.*748A>G) c.767A>G (p.Glu256Gly) | ClinVar dbSNP |
| X | g.154969468T>G | CA414918129 | F8 | c.872A>C (p.Glu291Ala) c.*748A>C (n.*748A>C) c.767A>C (p.Glu256Ala) | |
| X | g.154969468T= | CA2466849027 | F8 | c.872A= (p.Glu291=) c.*748A= (n.*748A=) c.767A= (p.Glu256=) | |
| X | g.154969469del | CA2695237468 | F8 | c.871del (p.Glu291LysfsTer7) c.*747del (n.*747del) c.766del (p.Glu256LysfsTer7) | |
| X | g.154969469C>A | CA414918132 | F8 | c.871G>T (p.Glu291Ter) c.*747G>T (n.*747G>T) c.766G>T (p.Glu256Ter) | |
| X | g.154969469C= | CA2466849028 | F8 | c.871G= (p.Glu291=) c.*747G= (n.*747G=) c.766G= (p.Glu256=) | |
| X | g.154969469C>G | CA414918133 | F8 | c.871G>C (p.Glu291Gln) c.*747G>C (n.*747G>C) c.766G>C (p.Glu256Gln) | |
| X | g.154969469C>T | CA414918134 | F8 | c.871G>A (p.Glu291Lys) c.*747G>A (n.*747G>A) c.766G>A (p.Glu256Lys) | ClinVar dbSNP gnomAD v4 |
| X | g.154969470G>A | CA337337622 | F8 | c.870C>T (p.Leu290=) c.*746C>T (n.*746C>T) c.765C>T (p.Leu255=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154969470G>C | CA519367521 | F8 | c.870C>G (p.Leu290=) c.*746C>G (n.*746C>G) c.765C>G (p.Leu255=) | |
| X | g.154969470G= | CA2466849029 | F8 | c.870C= (p.Leu290=) c.*746C= (n.*746C=) c.765C= (p.Leu255=) | |
| X | g.154969470G>T | CA519367524 | F8 | c.870C>A (p.Leu290=) c.*746C>A (n.*746C>A) c.765C>A (p.Leu255=) | |
| X | g.154969471A= | CA2466849030 | F8 | c.869T= (p.Leu290=) c.*745T= (n.*745T=) c.764T= (p.Leu255=) | |
| X | g.154969471A>C | CA414918137 | F8 | c.869T>G (p.Leu290Arg) c.*745T>G (n.*745T>G) c.764T>G (p.Leu255Arg) | |
| X | g.154969471A>G | CA414918139 | F8 | c.869T>C (p.Leu290Pro) c.*745T>C (n.*745T>C) c.764T>C (p.Leu255Pro) | dbSNP |
| X | g.154969471A>T | CA414918138 | F8 | c.869T>A (p.Leu290His) c.*745T>A (n.*745T>A) c.764T>A (p.Leu255His) | |
| X | g.154969472G>A | CA414918141 | F8 | c.868C>T (p.Leu290Phe) c.*744C>T (n.*744C>T) c.763C>T (p.Leu255Phe) | |
| X | g.154969472G>C | CA414918143 | F8 | c.868C>G (p.Leu290Val) c.*744C>G (n.*744C>G) c.763C>G (p.Leu255Val) | |
| X | g.154969472G>T | CA414918144 | F8 | c.868C>A (p.Leu290Ile) c.*744C>A (n.*744C>A) c.763C>A (p.Leu255Ile) | COSMIC COSMIC |
| X | g.154969473G>A | CA337337638 | F8 | c.867C>T (p.Phe289=) c.*743C>T (n.*743C>T) c.762C>T (p.Phe254=) | dbSNP gnomAD v4 |
| X | g.154969473G>C | CA414918145 | F8 | c.867C>G (p.Phe289Leu) c.*743C>G (n.*743C>G) c.762C>G (p.Phe254Leu) | |
| X | g.154969473G= | CA2466849031 | F8 | c.867C= (p.Phe289=) c.*743C= (n.*743C=) c.762C= (p.Phe254=) | |
| X | g.154969473G>T | CA414918147 | F8 | c.867C>A (p.Phe289Leu) c.*743C>A (n.*743C>A) c.762C>A (p.Phe254Leu) | |
| X | g.154969474A>C | CA414918150 | F8 | c.866T>G (p.Phe289Cys) c.*742T>G (n.*742T>G) c.761T>G (p.Phe254Cys) | |
| X | g.154969474A>G | CA414918151 | F8 | c.866T>C (p.Phe289Ser) c.*742T>C (n.*742T>C) c.761T>C (p.Phe254Ser) | |
| X | g.154969474A>T | CA414918152 | F8 | c.866T>A (p.Phe289Tyr) c.*742T>A (n.*742T>A) c.761T>A (p.Phe254Tyr) | |
| X | g.154969475A>C | CA414918157 | F8 | c.865T>G (p.Phe289Val) c.*741T>G (n.*741T>G) c.760T>G (p.Phe254Val) | |
| X | g.154969475A>G | CA414918155 | F8 | c.865T>C (p.Phe289Leu) c.*741T>C (n.*741T>C) c.760T>C (p.Phe254Leu) | |
| X | g.154969475A>T | CA414918153 | F8 | c.865T>A (p.Phe289Ile) c.*741T>A (n.*741T>A) c.760T>A (p.Phe254Ile) | |
| X | g.154969476T>A | CA519367536 | F8 | c.864A>T (p.Ile288=) c.*740A>T (n.*740A>T) c.759A>T (p.Ile253=) | |
| X | g.154969476T>C | CA414918159 | F8 | c.864A>G (p.Ile288Met) c.*740A>G (n.*740A>G) c.759A>G (p.Ile253Met) | |
| X | g.154969476T>G | CA519367538 | F8 | c.864A>C (p.Ile288=) c.*740A>C (n.*740A>C) c.759A>C (p.Ile253=) | |
| X | g.154969477A>C | CA414918165 | F8 | c.863T>G (p.Ile288Arg) c.*739T>G (n.*739T>G) c.758T>G (p.Ile253Arg) | |
| X | g.154969477A>G | CA414918161 | F8 | c.863T>C (p.Ile288Thr) c.*739T>C (n.*739T>C) c.758T>C (p.Ile253Thr) | |
| X | g.154969477A>T | CA414918163 | F8 | c.863T>A (p.Ile288Lys) c.*739T>A (n.*739T>A) c.758T>A (p.Ile253Lys) | |
| X | g.154969478T>A | CA414918167 | F8 | c.862A>T (p.Ile288Leu) c.*738A>T (n.*738A>T) c.757A>T (p.Ile253Leu) | |
| X | g.154969478T>C | CA414918170 | F8 | c.862A>G (p.Ile288Val) c.*738A>G (n.*738A>G) c.757A>G (p.Ile253Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154969478T>G | CA414918172 | F8 | c.862A>C (p.Ile288Leu) c.*738A>C (n.*738A>C) c.757A>C (p.Ile253Leu) | |
| X | g.154969478T= | CA2466849032 | F8 | c.862A= (p.Ile288=) c.*738A= (n.*738A=) c.757A= (p.Ile253=) | |
| X | g.154969479del | CA2695237470 | F8 | c.862del (p.Ile288TyrfsTer10) c.*738del (n.*738del) c.757del (p.Ile253TyrfsTer10) | |
| X | g.154969479T>A | CA519367547 | F8 | c.861A>T (p.Ser287=) c.*737A>T (n.*737A>T) c.756A>T (p.Ser252=) | |
| X | g.154969479T>C | CA519367549 | F8 | c.861A>G (p.Ser287=) c.*737A>G (n.*737A>G) c.756A>G (p.Ser252=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154969479T>G | CA519367551 | F8 | c.861A>C (p.Ser287=) c.*737A>C (n.*737A>C) c.756A>C (p.Ser252=) | |
| X | g.154969479T= | CA2466849033 | F8 | c.861A= (p.Ser287=) c.*737A= (n.*737A=) c.756A= (p.Ser252=) |