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.154837577_154837772del | CA915940534 | F8 | c.6901-20_*20del c.634-20_*20del c.496-20_*20del c.6796-20_*20del | |
| X | g.154837673_154837681del | CA2695237110 | F8 | c.6972_6980del (p.Leu2325_Ile2327del) c.705_713del (p.Leu236_Ile238del) c.567_575del (p.Leu190_Ile192del) c.6867_6875del (p.Leu2290_Ile2292del) | |
| X | g.154837679_154837687del | CA2695237111 | F8 | c.6969_6977del (p.Tyr2324_Arg2326del) c.702_710del (p.Tyr235_Arg237del) c.564_572del (p.Tyr189_Arg191del) c.6864_6872del (p.Tyr2289_Arg2291del) | |
| X | g.154837679del | CA2573055171 | F8 | c.6975del (p.Arg2326GlufsTer13) c.708del (p.Arg237GlufsTer13) c.570del (p.Arg191GlufsTer13) c.6870del (p.Arg2291GlufsTer13) | ClinVar dbSNP |
| X | g.154837679A>C | CA414897176 | F8 | c.6974T>G (p.Leu2325Arg) c.707T>G (p.Leu236Arg) c.569T>G (p.Leu190Arg) c.6869T>G (p.Leu2290Arg) | |
| X | g.154837679A>G | CA414897180 | F8 | c.6974T>C (p.Leu2325Pro) c.707T>C (p.Leu236Pro) c.569T>C (p.Leu190Pro) c.6869T>C (p.Leu2290Pro) | |
| X | g.154837679A>T | CA414897183 | F8 | c.6974T>A (p.Leu2325His) c.707T>A (p.Leu236His) c.569T>A (p.Leu190His) c.6869T>A (p.Leu2290His) | |
| X | g.154837680G>A | CA414897188 | F8 | c.6973C>T (p.Leu2325Phe) c.706C>T (p.Leu236Phe) c.568C>T (p.Leu190Phe) c.6868C>T (p.Leu2290Phe) | gnomAD v4 |
| X | g.154837680G>C | CA414897194 | F8 | c.6973C>G (p.Leu2325Val) c.706C>G (p.Leu236Val) c.568C>G (p.Leu190Val) c.6868C>G (p.Leu2290Val) | |
| X | g.154837680G>T | CA414897197 | F8 | c.6973C>A (p.Leu2325Ile) c.706C>A (p.Leu236Ile) c.568C>A (p.Leu190Ile) c.6868C>A (p.Leu2290Ile) | |
| X | g.154837681G>A | CA519355255 | F8 | c.6972C>T (p.Tyr2324=) c.705C>T (p.Tyr235=) c.567C>T (p.Tyr189=) c.6867C>T (p.Tyr2289=) | |
| X | g.154837681G>C | CA414897200 | F8 | c.6972C>G (p.Tyr2324Ter) c.705C>G (p.Tyr235Ter) c.567C>G (p.Tyr189Ter) c.6867C>G (p.Tyr2289Ter) | |
| X | g.154837681G= | CA2466807439 | F8 | c.6972C= (p.Tyr2324=) c.705C= (p.Tyr235=) c.567C= (p.Tyr189=) c.6867C= (p.Tyr2289=) | |
| X | g.154837681G>T | CA414897203 | F8 | c.6972C>A (p.Tyr2324Ter) c.705C>A (p.Tyr235Ter) c.567C>A (p.Tyr189Ter) c.6867C>A (p.Tyr2289Ter) | dbSNP |
| X | g.154837682T>A | CA414897216 | F8 | c.6971A>T (p.Tyr2324Phe) c.704A>T (p.Tyr235Phe) c.566A>T (p.Tyr189Phe) c.6866A>T (p.Tyr2289Phe) | |
| X | g.154837682T>C | CA414897210 | F8 | c.6971A>G (p.Tyr2324Cys) c.704A>G (p.Tyr235Cys) c.566A>G (p.Tyr189Cys) c.6866A>G (p.Tyr2289Cys) | |
| X | g.154837682T>G | CA414897213 | F8 | c.6971A>C (p.Tyr2324Ser) c.704A>C (p.Tyr235Ser) c.566A>C (p.Tyr189Ser) c.6866A>C (p.Tyr2289Ser) | |
| X | g.154837683A>C | CA414897220 | F8 | c.6970T>G (p.Tyr2324Asp) c.703T>G (p.Tyr235Asp) c.565T>G (p.Tyr189Asp) c.6865T>G (p.Tyr2289Asp) | |
| X | g.154837683A>G | CA414897223 | F8 | c.6970T>C (p.Tyr2324His) c.703T>C (p.Tyr235His) c.565T>C (p.Tyr189His) c.6865T>C (p.Tyr2289His) | |
| X | g.154837683A>T | CA414897226 | F8 | c.6970T>A (p.Tyr2324Asn) c.703T>A (p.Tyr235Asn) c.565T>A (p.Tyr189Asn) c.6865T>A (p.Tyr2289Asn) | |
| X | g.154837684G>A | CA519355259 | F8 | c.6969C>T (p.Arg2323=) c.702C>T (p.Arg234=) c.564C>T (p.Arg188=) c.6864C>T (p.Arg2288=) | |
| X | g.154837684G>C | CA519355260 | F8 | c.6969C>G (p.Arg2323=) c.702C>G (p.Arg234=) c.564C>G (p.Arg188=) c.6864C>G (p.Arg2288=) | |
| X | g.154837684G>T | CA519355261 | F8 | c.6969C>A (p.Arg2323=) c.702C>A (p.Arg234=) c.564C>A (p.Arg188=) c.6864C>A (p.Arg2288=) | |
| X | g.154837685C>A | CA414897232 | F8 | c.6968G>T (p.Arg2323Leu) c.701G>T (p.Arg234Leu) c.563G>T (p.Arg188Leu) c.6863G>T (p.Arg2288Leu) | |
| X | g.154837685C= | CA2466807440 | F8 | c.6968G= (p.Arg2323=) c.701G= (p.Arg234=) c.563G= (p.Arg188=) c.6863G= (p.Arg2288=) | |
| X | g.154837685C>G | CA414897240 | F8 | c.6968G>C (p.Arg2323Pro) c.701G>C (p.Arg234Pro) c.563G>C (p.Arg188Pro) c.6863G>C (p.Arg2288Pro) | ClinVar dbSNP |
| X | g.154837685C>T | CA255226 | F8 | c.6968G>A (p.Arg2323His) c.701G>A (p.Arg234His) c.563G>A (p.Arg188His) c.6863G>A (p.Arg2288His) | ClinVar dbSNP |
| X | g.154837686G>A | CA255225 | F8 | c.6967C>T (p.Arg2323Cys) c.700C>T (p.Arg234Cys) c.562C>T (p.Arg188Cys) c.6862C>T (p.Arg2288Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154837686G>C | CA414897249 | F8 | c.6967C>G (p.Arg2323Gly) c.700C>G (p.Arg234Gly) c.562C>G (p.Arg188Gly) c.6862C>G (p.Arg2288Gly) | ClinVar dbSNP |
| X | g.154837686G= | CA2466807441 | F8 | c.6967C= (p.Arg2323=) c.700C= (p.Arg234=) c.562C= (p.Arg188=) c.6862C= (p.Arg2288=) | |
| X | g.154837686G>T | CA414897252 | F8 | c.6967C>A (p.Arg2323Ser) c.700C>A (p.Arg234Ser) c.562C>A (p.Arg188Ser) c.6862C>A (p.Arg2288Ser) | |
| X | g.154837687A= | CA2466807442 | F8 | c.6966T= (p.Thr2322=) c.699T= (p.Thr233=) c.561T= (p.Thr187=) c.6861T= (p.Thr2287=) | |
| X | g.154837687A>C | CA519355265 | F8 | c.6966T>G (p.Thr2322=) c.699T>G (p.Thr233=) c.561T>G (p.Thr187=) c.6861T>G (p.Thr2287=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154837687A>G | CA519355266 | F8 | c.6966T>C (p.Thr2322=) c.699T>C (p.Thr233=) c.561T>C (p.Thr187=) c.6861T>C (p.Thr2287=) | |
| X | g.154837687A>T | CA519355267 | F8 | c.6966T>A (p.Thr2322=) c.699T>A (p.Thr233=) c.561T>A (p.Thr187=) c.6861T>A (p.Thr2287=) | |
| X | g.154837690_154837693dup | CA2695237112 | F8 | c.6963_6966dup (p.Arg2323AspfsTer?) c.696_699dup (p.Arg234AspfsTer?) c.558_561dup (p.Arg188AspfsTer?) c.6858_6861dup (p.Arg2288AspfsTer?) | |
| X | g.154837688G>A | CA414897256 | F8 | c.6965C>T (p.Thr2322Ile) c.698C>T (p.Thr233Ile) c.560C>T (p.Thr187Ile) c.6860C>T (p.Thr2287Ile) | |
| X | g.154837688G>C | CA414897260 | F8 | c.6965C>G (p.Thr2322Ser) c.698C>G (p.Thr233Ser) c.560C>G (p.Thr187Ser) c.6860C>G (p.Thr2287Ser) | |
| X | g.154837688G= | CA2466807443 | F8 | c.6965C= (p.Thr2322=) c.698C= (p.Thr233=) c.560C= (p.Thr187=) c.6860C= (p.Thr2287=) | |
| X | g.154837688G>T | CA414897299 | F8 | c.6965C>A (p.Thr2322Asn) c.698C>A (p.Thr233Asn) c.560C>A (p.Thr187Asn) c.6860C>A (p.Thr2287Asn) | dbSNP |
| X | g.154837689T>A | CA414897313 | F8 | c.6964A>T (p.Thr2322Ser) c.697A>T (p.Thr233Ser) c.559A>T (p.Thr187Ser) c.6859A>T (p.Thr2287Ser) | |
| X | g.154837689T>C | CA414897308 | F8 | c.6964A>G (p.Thr2322Ala) c.697A>G (p.Thr233Ala) c.559A>G (p.Thr187Ala) c.6859A>G (p.Thr2287Ala) | |
| X | g.154837689T>G | CA414897306 | F8 | c.6964A>C (p.Thr2322Pro) c.697A>C (p.Thr233Pro) c.559A>C (p.Thr187Pro) c.6859A>C (p.Thr2287Pro) | |
| X | g.154837690C>A | CA519355269 | F8 | c.6963G>T (p.Leu2321=) c.696G>T (p.Leu232=) c.558G>T (p.Leu186=) c.6858G>T (p.Leu2286=) | |
| X | g.154837690C>G | CA519355270 | F8 | c.6963G>C (p.Leu2321=) c.696G>C (p.Leu232=) c.558G>C (p.Leu186=) c.6858G>C (p.Leu2286=) | |
| X | g.154837690C>T | CA519355271 | F8 | c.6963G>A (p.Leu2321=) c.696G>A (p.Leu232=) c.558G>A (p.Leu186=) c.6858G>A (p.Leu2286=) | |
| X | g.154837691A>C | CA414897317 | F8 | c.6962T>G (p.Leu2321Arg) c.695T>G (p.Leu232Arg) c.557T>G (p.Leu186Arg) c.6857T>G (p.Leu2286Arg) | |
| X | g.154837691A>G | CA414897321 | F8 | c.6962T>C (p.Leu2321Pro) c.695T>C (p.Leu232Pro) c.557T>C (p.Leu186Pro) c.6857T>C (p.Leu2286Pro) | |
| X | g.154837691A>T | CA414897324 | F8 | c.6962T>A (p.Leu2321Gln) c.695T>A (p.Leu232Gln) c.557T>A (p.Leu186Gln) c.6857T>A (p.Leu2286Gln) | |
| X | g.154837692G>A | CA519355273 | F8 | c.6961C>T (p.Leu2321=) c.694C>T (p.Leu232=) c.556C>T (p.Leu186=) c.6856C>T (p.Leu2286=) | |
| X | g.154837692G>C | CA414897326 | F8 | c.6961C>G (p.Leu2321Val) c.694C>G (p.Leu232Val) c.556C>G (p.Leu186Val) c.6856C>G (p.Leu2286Val) | |
| X | g.154837692G>T | CA414897329 | F8 | c.6961C>A (p.Leu2321Met) c.694C>A (p.Leu232Met) c.556C>A (p.Leu186Met) c.6856C>A (p.Leu2286Met) | |
| X | g.154837693T>A | CA414897334 | F8 | c.6960A>T (p.Leu2320Phe) c.693A>T (p.Leu231Phe) c.555A>T (p.Leu185Phe) c.6855A>T (p.Leu2285Phe) | |
| X | g.154837693T>C | CA519355274 | F8 | c.6960A>G (p.Leu2320=) c.693A>G (p.Leu231=) c.555A>G (p.Leu185=) c.6855A>G (p.Leu2285=) | |
| X | g.154837693T>G | CA414897335 | F8 | c.6960A>C (p.Leu2320Phe) c.693A>C (p.Leu231Phe) c.555A>C (p.Leu185Phe) c.6855A>C (p.Leu2285Phe) | |
| X | g.154837694A>C | CA414897339 | F8 | c.6959T>G (p.Leu2320Ter) c.692T>G (p.Leu231Ter) c.554T>G (p.Leu185Ter) c.6854T>G (p.Leu2285Ter) | ClinVar dbSNP |
| X | g.154837694A>G | CA414897342 | F8 | c.6959T>C (p.Leu2320Ser) c.692T>C (p.Leu231Ser) c.554T>C (p.Leu185Ser) c.6854T>C (p.Leu2285Ser) | |
| X | g.154837694A>T | CA414897345 | F8 | c.6959T>A (p.Leu2320Ter) c.692T>A (p.Leu231Ter) c.554T>A (p.Leu185Ter) c.6854T>A (p.Leu2285Ter) | |
| X | g.154837695A= | CA2466807444 | F8 | c.6958T= (p.Leu2320=) c.691T= (p.Leu231=) c.553T= (p.Leu185=) c.6853T= (p.Leu2285=) | |
| X | g.154837695A>C | CA414897348 | F8 | c.6958T>G (p.Leu2320Val) c.691T>G (p.Leu231Val) c.553T>G (p.Leu185Val) c.6853T>G (p.Leu2285Val) | |
| X | g.154837695A>G | CA337319404 | F8 | c.6958T>C (p.Leu2320=) c.691T>C (p.Leu231=) c.553T>C (p.Leu185=) c.6853T>C (p.Leu2285=) | dbSNP |
| X | g.154837695A>T | CA414897351 | F8 | c.6958T>A (p.Leu2320Ile) c.691T>A (p.Leu231Ile) c.553T>A (p.Leu185Ile) c.6853T>A (p.Leu2285Ile) | |
| X | g.154837696C>A | CA519355277 | F8 | c.6957G>T (p.Pro2319=) c.690G>T (p.Pro230=) c.552G>T (p.Pro184=) c.6852G>T (p.Pro2284=) | |
| X | g.154837696C= | CA2466807445 | F8 | c.6957G= (p.Pro2319=) c.690G= (p.Pro230=) c.552G= (p.Pro184=) c.6852G= (p.Pro2284=) | |
| X | g.154837696C>G | CA519355279 | F8 | c.6957G>C (p.Pro2319=) c.690G>C (p.Pro230=) c.552G>C (p.Pro184=) c.6852G>C (p.Pro2284=) | |
| X | g.154837696C>T | CA10567726 | F8 | c.6957G>A (p.Pro2319=) c.690G>A (p.Pro230=) c.552G>A (p.Pro184=) c.6852G>A (p.Pro2284=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.154837697G>A | CA255224 | F8 | c.6956C>T (p.Pro2319Leu) c.689C>T (p.Pro230Leu) c.551C>T (p.Pro184Leu) c.6851C>T (p.Pro2284Leu) | ClinVar dbSNP gnomAD v4 |
| X | g.154837697G>C | CA414897362 | F8 | c.6956C>G (p.Pro2319Arg) c.689C>G (p.Pro230Arg) c.551C>G (p.Pro184Arg) c.6851C>G (p.Pro2284Arg) | dbSNP COSMIC COSMIC |
| X | g.154837697G= | CA2466807446 | F8 | c.6956C= (p.Pro2319=) c.689C= (p.Pro230=) c.551C= (p.Pro184=) c.6851C= (p.Pro2284=) | |
| X | g.154837697G>T | CA414897365 | F8 | c.6956C>A (p.Pro2319Gln) c.689C>A (p.Pro230Gln) c.551C>A (p.Pro184Gln) c.6851C>A (p.Pro2284Gln) | |
| X | g.154837698dup | CA873360978 | F8 | c.6956dup (p.Leu2320ValfsTer?) c.689dup (p.Leu231ValfsTer?) c.551dup (p.Leu185ValfsTer?) c.6851dup (p.Leu2285ValfsTer?) | ClinVar dbSNP |
| X | g.154837700_154837703dup | CA2695237113 | F8 | c.6953_6956dup (p.Leu2320ThrfsTer?) c.686_689dup (p.Leu231ThrfsTer?) c.548_551dup (p.Leu185ThrfsTer?) c.6848_6851dup (p.Leu2285ThrfsTer?) | |
| X | g.154837698G>A | CA255041 | F8 | c.6955C>T (p.Pro2319Ser) c.688C>T (p.Pro230Ser) c.550C>T (p.Pro184Ser) c.6850C>T (p.Pro2284Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154837698G>C | CA414897373 | F8 | c.6955C>G (p.Pro2319Ala) c.688C>G (p.Pro230Ala) c.550C>G (p.Pro184Ala) c.6850C>G (p.Pro2284Ala) | |
| X | g.154837698G= | CA2466807447 | F8 | c.6955C= (p.Pro2319=) c.688C= (p.Pro230=) c.550C= (p.Pro184=) c.6850C= (p.Pro2284=) | |
| X | g.154837698G>T | CA414897376 | F8 | c.6955C>A (p.Pro2319Thr) c.688C>A (p.Pro230Thr) c.550C>A (p.Pro184Thr) c.6850C>A (p.Pro2284Thr) | |
| X | g.154837699T>A | CA519355280 | F8 | c.6954A>T (p.Pro2318=) c.687A>T (p.Pro229=) c.549A>T (p.Pro183=) c.6849A>T (p.Pro2283=) | |
| X | g.154837699T>C | CA519355282 | F8 | c.6954A>G (p.Pro2318=) c.687A>G (p.Pro229=) c.549A>G (p.Pro183=) c.6849A>G (p.Pro2283=) | |
| X | g.154837699T>G | CA519355281 | F8 | c.6954A>C (p.Pro2318=) c.687A>C (p.Pro229=) c.549A>C (p.Pro183=) c.6849A>C (p.Pro2283=) | |
| X | g.154837699_154837700delinsTG | CA2466807448 | F8 | c.6953_6954delinsCA (p.Pro2318=) c.686_687delinsCA (p.Pro229=) c.548_549delinsCA (p.Pro183=) c.6848_6849delinsCA (p.Pro2283=) | |
| X | g.154837700G>A | CA414897382 | F8 | c.6953C>T (p.Pro2318Leu) c.686C>T (p.Pro229Leu) c.548C>T (p.Pro183Leu) c.6848C>T (p.Pro2283Leu) | |
| X | g.154837700G>C | CA414897385 | F8 | c.6953C>G (p.Pro2318Arg) c.686C>G (p.Pro229Arg) c.548C>G (p.Pro183Arg) c.6848C>G (p.Pro2283Arg) | |
| X | g.154837700G>T | CA414897388 | F8 | c.6953C>A (p.Pro2318Gln) c.686C>A (p.Pro229Gln) c.548C>A (p.Pro183Gln) c.6848C>A (p.Pro2283Gln) | |
| X | g.154837702del | CA2466807449 | F8 | c.6953del (p.Pro2318HisfsTer4) c.686del (p.Pro229HisfsTer4) c.548del (p.Pro183HisfsTer4) c.6848del (p.Pro2283HisfsTer4) | dbSNP |
| X | g.154837701G>A | CA414897391 | F8 | c.6952C>T (p.Pro2318Ser) c.685C>T (p.Pro229Ser) c.547C>T (p.Pro183Ser) c.6847C>T (p.Pro2283Ser) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154837701G>C | CA414897394 | F8 | c.6952C>G (p.Pro2318Ala) c.685C>G (p.Pro229Ala) c.547C>G (p.Pro183Ala) c.6847C>G (p.Pro2283Ala) | |
| X | g.154837701G= | CA2466807450 | F8 | c.6952C= (p.Pro2318=) c.685C= (p.Pro229=) c.547C= (p.Pro183=) c.6847C= (p.Pro2283=) | |
| X | g.154837701G>T | CA414897398 | F8 | c.6952C>A (p.Pro2318Thr) c.685C>A (p.Pro229Thr) c.547C>A (p.Pro183Thr) c.6847C>A (p.Pro2283Thr) | |
| X | g.154837702G>A | CA519355286 | F8 | c.6951C>T (p.Asp2317=) c.684C>T (p.Asp228=) c.546C>T (p.Asp182=) c.6846C>T (p.Asp2282=) | |
| X | g.154837702G>C | CA10567727 | F8 | c.6951C>G (p.Asp2317Glu) c.684C>G (p.Asp228Glu) c.546C>G (p.Asp182Glu) c.6846C>G (p.Asp2282Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154837702G= | CA2466807451 | F8 | c.6951C= (p.Asp2317=) c.684C= (p.Asp228=) c.546C= (p.Asp182=) c.6846C= (p.Asp2282=) | |
| X | g.154837702G>T | CA414897405 | F8 | c.6951C>A (p.Asp2317Glu) c.684C>A (p.Asp228Glu) c.546C>A (p.Asp182Glu) c.6846C>A (p.Asp2282Glu) | |
| X | g.154837703T>A | CA414897416 | F8 | c.6950A>T (p.Asp2317Val) c.683A>T (p.Asp228Val) c.545A>T (p.Asp182Val) c.6845A>T (p.Asp2282Val) | gnomAD v4 |
| X | g.154837703T>C | CA414897409 | F8 | c.6950A>G (p.Asp2317Gly) c.683A>G (p.Asp228Gly) c.545A>G (p.Asp182Gly) c.6845A>G (p.Asp2282Gly) | |
| X | g.154837703T>G | CA414897413 | F8 | c.6950A>C (p.Asp2317Ala) c.683A>C (p.Asp228Ala) c.545A>C (p.Asp182Ala) c.6845A>C (p.Asp2282Ala) | gnomAD v4 |
| X | g.154837704C>A | CA414897420 | F8 | c.6949G>T (p.Asp2317Tyr) c.682G>T (p.Asp228Tyr) c.544G>T (p.Asp182Tyr) c.6844G>T (p.Asp2282Tyr) | |
| X | g.154837704C>G | CA414897422 | F8 | c.6949G>C (p.Asp2317His) c.682G>C (p.Asp228His) c.544G>C (p.Asp182His) c.6844G>C (p.Asp2282His) | |
| X | g.154837704C>T | CA414897426 | F8 | c.6949G>A (p.Asp2317Asn) c.682G>A (p.Asp228Asn) c.544G>A (p.Asp182Asn) c.6844G>A (p.Asp2282Asn) | |
| X | g.154837705T>A | CA519355287 | F8 | c.6948A>T (p.Leu2316=) c.681A>T (p.Leu227=) c.543A>T (p.Leu181=) c.6843A>T (p.Leu2281=) | |
| X | g.154837705T>C | CA10567728 | F8 | c.6948A>G (p.Leu2316=) c.681A>G (p.Leu227=) c.543A>G (p.Leu181=) c.6843A>G (p.Leu2281=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154837705T>G | CA519355288 | F8 | c.6948A>C (p.Leu2316=) c.681A>C (p.Leu227=) c.543A>C (p.Leu181=) c.6843A>C (p.Leu2281=) | |
| X | g.154837705T= | CA2466807452 | F8 | c.6948A= (p.Leu2316=) c.681A= (p.Leu227=) c.543A= (p.Leu181=) c.6843A= (p.Leu2281=) | |
| X | g.154837706A>C | CA414897444 | F8 | c.6947T>G (p.Leu2316Arg) c.680T>G (p.Leu227Arg) c.542T>G (p.Leu181Arg) c.6842T>G (p.Leu2281Arg) | |
| X | g.154837706A>G | CA414897447 | F8 | c.6947T>C (p.Leu2316Pro) c.680T>C (p.Leu227Pro) c.542T>C (p.Leu181Pro) c.6842T>C (p.Leu2281Pro) | |
| X | g.154837706A>T | CA414897449 | F8 | c.6947T>A (p.Leu2316Gln) c.680T>A (p.Leu227Gln) c.542T>A (p.Leu181Gln) c.6842T>A (p.Leu2281Gln) | |
| X | g.154837706dup | CA2695237114 | F8 | c.6947dup (p.Asp2317ArgfsTer?) c.680dup (p.Asp228ArgfsTer?) c.542dup (p.Asp182ArgfsTer?) c.6842dup (p.Asp2282ArgfsTer?) | |
| X | g.154837707G>A | CA519355289 | F8 | c.6946C>T (p.Leu2316=) c.679C>T (p.Leu227=) c.541C>T (p.Leu181=) c.6841C>T (p.Leu2281=) | |
| X | g.154837707G>C | CA414897454 | F8 | c.6946C>G (p.Leu2316Val) c.679C>G (p.Leu227Val) c.541C>G (p.Leu181Val) c.6841C>G (p.Leu2281Val) | |
| X | g.154837707G>T | CA414897457 | F8 | c.6946C>A (p.Leu2316Ile) c.679C>A (p.Leu227Ile) c.541C>A (p.Leu181Ile) c.6841C>A (p.Leu2281Ile) | |
| X | g.154837708A= | CA2466807453 | F8 | c.6945T= (p.Ser2315=) c.678T= (p.Ser226=) c.540T= (p.Ser180=) c.6840T= (p.Ser2280=) | |
| X | g.154837708A>C | CA519355291 | F8 | c.6945T>G (p.Ser2315=) c.678T>G (p.Ser226=) c.540T>G (p.Ser180=) c.6840T>G (p.Ser2280=) | |
| X | g.154837708A>G | CA519355292 | F8 | c.6945T>C (p.Ser2315=) c.678T>C (p.Ser226=) c.540T>C (p.Ser180=) c.6840T>C (p.Ser2280=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154837708A>T | CA519355290 | F8 | c.6945T>A (p.Ser2315=) c.678T>A (p.Ser226=) c.540T>A (p.Ser180=) c.6840T>A (p.Ser2280=) | |
| X | g.154837709G>A | CA414897461 | F8 | c.6944C>T (p.Ser2315Phe) c.677C>T (p.Ser226Phe) c.539C>T (p.Ser180Phe) c.6839C>T (p.Ser2280Phe) | dbSNP gnomAD v4 |
| X | g.154837709G>C | CA414897464 | F8 | c.6944C>G (p.Ser2315Cys) c.677C>G (p.Ser226Cys) c.539C>G (p.Ser180Cys) c.6839C>G (p.Ser2280Cys) | |
| X | g.154837709G= | CA2466807454 | F8 | c.6944C= (p.Ser2315=) c.677C= (p.Ser226=) c.539C= (p.Ser180=) c.6839C= (p.Ser2280=) | |
| X | g.154837709G>T | CA414897467 | F8 | c.6944C>A (p.Ser2315Tyr) c.677C>A (p.Ser226Tyr) c.539C>A (p.Ser180Tyr) c.6839C>A (p.Ser2280Tyr) | |
| X | g.154837710A>C | CA414897486 | F8 | c.6943T>G (p.Ser2315Ala) c.676T>G (p.Ser226Ala) c.538T>G (p.Ser180Ala) c.6838T>G (p.Ser2280Ala) | |
| X | g.154837710A>G | CA414897473 | F8 | c.6943T>C (p.Ser2315Pro) c.676T>C (p.Ser226Pro) c.538T>C (p.Ser180Pro) c.6838T>C (p.Ser2280Pro) | |
| X | g.154837710A>T | CA414897483 | F8 | c.6943T>A (p.Ser2315Thr) c.676T>A (p.Ser226Thr) c.538T>A (p.Ser180Thr) c.6838T>A (p.Ser2280Thr) | |
| X | g.154837711G>A | CA519355294 | F8 | c.6942C>T (p.Asn2314=) c.675C>T (p.Asn225=) c.537C>T (p.Asn179=) c.6837C>T (p.Asn2279=) | |
| X | g.154837711G>C | CA10567729 | F8 | c.6942C>G (p.Asn2314Lys) c.675C>G (p.Asn225Lys) c.537C>G (p.Asn179Lys) c.6837C>G (p.Asn2279Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154837711G= | CA2466807455 | F8 | c.6942C= (p.Asn2314=) c.675C= (p.Asn225=) c.537C= (p.Asn179=) c.6837C= (p.Asn2279=) | |
| X | g.154837711G>T | CA414897491 | F8 | c.6942C>A (p.Asn2314Lys) c.675C>A (p.Asn225Lys) c.537C>A (p.Asn179Lys) c.6837C>A (p.Asn2279Lys) | |
| X | g.154837712T>A | CA414897498 | F8 | c.6941A>T (p.Asn2314Ile) c.674A>T (p.Asn225Ile) c.536A>T (p.Asn179Ile) c.6836A>T (p.Asn2279Ile) | gnomAD v4 |
| X | g.154837712T>C | CA414897501 | F8 | c.6941A>G (p.Asn2314Ser) c.674A>G (p.Asn225Ser) c.536A>G (p.Asn179Ser) c.6836A>G (p.Asn2279Ser) | |
| X | g.154837712T>G | CA414897504 | F8 | c.6941A>C (p.Asn2314Thr) c.674A>C (p.Asn225Thr) c.536A>C (p.Asn179Thr) c.6836A>C (p.Asn2279Thr) | |
| X | g.154837713T>A | CA414897507 | F8 | c.6940A>T (p.Asn2314Tyr) c.673A>T (p.Asn225Tyr) c.535A>T (p.Asn179Tyr) c.6835A>T (p.Asn2279Tyr) | |
| X | g.154837713T>C | CA414897510 | F8 | c.6940A>G (p.Asn2314Asp) c.673A>G (p.Asn225Asp) c.535A>G (p.Asn179Asp) c.6835A>G (p.Asn2279Asp) | |
| X | g.154837713T>G | CA414897514 | F8 | c.6940A>C (p.Asn2314His) c.673A>C (p.Asn225His) c.535A>C (p.Asn179His) c.6835A>C (p.Asn2279His) | |
| X | g.154837714C>A | CA519355297 | F8 | c.6939G>T (p.Val2313=) c.672G>T (p.Val224=) c.534G>T (p.Val178=) c.6834G>T (p.Val2278=) | |
| X | g.154837714C>G | CA519355299 | F8 | c.6939G>C (p.Val2313=) c.672G>C (p.Val224=) c.534G>C (p.Val178=) c.6834G>C (p.Val2278=) | |
| X | g.154837714C>T | CA519355300 | F8 | c.6939G>A (p.Val2313=) c.672G>A (p.Val224=) c.534G>A (p.Val178=) c.6834G>A (p.Val2278=) | |
| X | g.154837715A>C | CA414897519 | F8 | c.6938T>G (p.Val2313Gly) c.671T>G (p.Val224Gly) c.533T>G (p.Val178Gly) c.6833T>G (p.Val2278Gly) | |
| X | g.154837715A>G | CA414897522 | F8 | c.6938T>C (p.Val2313Ala) c.671T>C (p.Val224Ala) c.533T>C (p.Val178Ala) c.6833T>C (p.Val2278Ala) | |
| X | g.154837715A>T | CA414897524 | F8 | c.6938T>A (p.Val2313Glu) c.671T>A (p.Val224Glu) c.533T>A (p.Val178Glu) c.6833T>A (p.Val2278Glu) | |
| X | g.154837716C>A | CA414897530 | F8 | c.6937G>T (p.Val2313Leu) c.670G>T (p.Val224Leu) c.532G>T (p.Val178Leu) c.6832G>T (p.Val2278Leu) | |
| X | g.154837716C>G | CA414897548 | F8 | c.6937G>C (p.Val2313Leu) c.670G>C (p.Val224Leu) c.532G>C (p.Val178Leu) c.6832G>C (p.Val2278Leu) | |
| X | g.154837716C>T | CA414897533 | F8 | c.6937G>A (p.Val2313Met) c.670G>A (p.Val224Met) c.532G>A (p.Val178Met) c.6832G>A (p.Val2278Met) | gnomAD v4 |
| X | g.154837717C>A | CA519355301 | F8 | c.6936G>T (p.Val2312=) c.669G>T (p.Val223=) c.531G>T (p.Val177=) c.6831G>T (p.Val2277=) | |
| X | g.154837717C= | CA2466807456 | F8 | c.6936G= (p.Val2312=) c.669G= (p.Val223=) c.531G= (p.Val177=) c.6831G= (p.Val2277=) | |
| X | g.154837717C>G | CA519355302 | F8 | c.6936G>C (p.Val2312=) c.669G>C (p.Val223=) c.531G>C (p.Val177=) c.6831G>C (p.Val2277=) | |
| X | g.154837717C>T | CA519355303 | F8 | c.6936G>A (p.Val2312=) c.669G>A (p.Val223=) c.531G>A (p.Val177=) c.6831G>A (p.Val2277=) | |
| X | g.154837718A>C | CA414897552 | F8 | c.6935T>G (p.Val2312Gly) c.668T>G (p.Val223Gly) c.530T>G (p.Val177Gly) c.6830T>G (p.Val2277Gly) | |
| X | g.154837718A>G | CA414897555 | F8 | c.6935T>C (p.Val2312Ala) c.668T>C (p.Val223Ala) c.530T>C (p.Val177Ala) c.6830T>C (p.Val2277Ala) | |
| X | g.154837718A>T | CA414897558 | F8 | c.6935T>A (p.Val2312Glu) c.668T>A (p.Val223Glu) c.530T>A (p.Val177Glu) c.6830T>A (p.Val2277Glu) | |
| X | g.154837718dup | CA645237060 | F8 | c.6935dup (p.Val2313GlyfsTer?) c.668dup (p.Val224GlyfsTer?) c.530dup (p.Val178GlyfsTer?) c.6830dup (p.Val2278GlyfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154837719C>A | CA414897561 | F8 | c.6934G>T (p.Val2312Leu) c.667G>T (p.Val223Leu) c.529G>T (p.Val177Leu) c.6829G>T (p.Val2277Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154837719C= | CA2466807457 | F8 | c.6934G= (p.Val2312=) c.667G= (p.Val223=) c.529G= (p.Val177=) c.6829G= (p.Val2277=) | |
| X | g.154837719C>G | CA414897565 | F8 | c.6934G>C (p.Val2312Leu) c.667G>C (p.Val223Leu) c.529G>C (p.Val177Leu) c.6829G>C (p.Val2277Leu) | |
| X | g.154837719C>T | CA414897568 | F8 | c.6934G>A (p.Val2312Met) c.667G>A (p.Val223Met) c.529G>A (p.Val177Met) c.6829G>A (p.Val2277Met) | |
| X | g.154837720A>C | CA519355304 | F8 | c.6933T>G (p.Pro2311=) c.666T>G (p.Pro222=) c.528T>G (p.Pro176=) c.6828T>G (p.Pro2276=) | |
| X | g.154837720A>G | CA519355306 | F8 | c.6933T>C (p.Pro2311=) c.666T>C (p.Pro222=) c.528T>C (p.Pro176=) c.6828T>C (p.Pro2276=) | gnomAD v4 |
| X | g.154837720A>T | CA519355305 | F8 | c.6933T>A (p.Pro2311=) c.666T>A (p.Pro222=) c.528T>A (p.Pro176=) c.6828T>A (p.Pro2276=) | |
| X | g.154837721G>A | CA337319432 | F8 | c.6932C>T (p.Pro2311Leu) c.665C>T (p.Pro222Leu) c.527C>T (p.Pro176Leu) c.6827C>T (p.Pro2276Leu) | dbSNP |
| X | g.154837721G>C | CA414897574 | F8 | c.6932C>G (p.Pro2311Arg) c.665C>G (p.Pro222Arg) c.527C>G (p.Pro176Arg) c.6827C>G (p.Pro2276Arg) | |
| X | g.154837721G= | CA2466807458 | F8 | c.6932C= (p.Pro2311=) c.665C= (p.Pro222=) c.527C= (p.Pro176=) c.6827C= (p.Pro2276=) | |
| X | g.154837721G>T | CA337319439 | F8 | c.6932C>A (p.Pro2311His) c.665C>A (p.Pro222His) c.527C>A (p.Pro176His) c.6827C>A (p.Pro2276His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.154837722G>A | CA414897581 | F8 | c.6931C>T (p.Pro2311Ser) c.664C>T (p.Pro222Ser) c.526C>T (p.Pro176Ser) c.6826C>T (p.Pro2276Ser) | gnomAD v4 |
| X | g.154837722G>C | CA414897585 | F8 | c.6931C>G (p.Pro2311Ala) c.664C>G (p.Pro222Ala) c.526C>G (p.Pro176Ala) c.6826C>G (p.Pro2276Ala) | |
| X | g.154837722G>T | CA414897588 | F8 | c.6931C>A (p.Pro2311Thr) c.664C>A (p.Pro222Thr) c.526C>A (p.Pro176Thr) c.6826C>A (p.Pro2276Thr) | gnomAD v4 |
| X | g.154837723T>A | CA519355307 | F8 | c.6930A>T (p.Thr2310=) c.663A>T (p.Thr221=) c.525A>T (p.Thr175=) c.6825A>T (p.Thr2275=) | |
| X | g.154837723T>C | CA519355308 | F8 | c.6930A>G (p.Thr2310=) c.663A>G (p.Thr221=) c.525A>G (p.Thr175=) c.6825A>G (p.Thr2275=) | |
| X | g.154837723T>G | CA519355309 | F8 | c.6930A>C (p.Thr2310=) c.663A>C (p.Thr221=) c.525A>C (p.Thr175=) c.6825A>C (p.Thr2275=) | dbSNP |
| X | g.154837723T= | CA2466807459 | F8 | c.6930A= (p.Thr2310=) c.663A= (p.Thr221=) c.525A= (p.Thr175=) c.6825A= (p.Thr2275=) | |
| X | g.154837724G>A | CA10567730 | F8 | c.6929C>T (p.Thr2310Ile) c.662C>T (p.Thr221Ile) c.524C>T (p.Thr175Ile) c.6824C>T (p.Thr2275Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154837724G>C | CA414897592 | F8 | c.6929C>G (p.Thr2310Arg) c.662C>G (p.Thr221Arg) c.524C>G (p.Thr175Arg) c.6824C>G (p.Thr2275Arg) | |
| X | g.154837724G= | CA2466807460 | F8 | c.6929C= (p.Thr2310=) c.662C= (p.Thr221=) c.524C= (p.Thr175=) c.6824C= (p.Thr2275=) | |
| X | g.154837724G>T | CA414897596 | F8 | c.6929C>A (p.Thr2310Lys) c.662C>A (p.Thr221Lys) c.524C>A (p.Thr175Lys) c.6824C>A (p.Thr2275Lys) | |
| X | g.154837725T>A | CA414897601 | F8 | c.6928A>T (p.Thr2310Ser) c.661A>T (p.Thr221Ser) c.523A>T (p.Thr175Ser) c.6823A>T (p.Thr2275Ser) | |
| X | g.154837725T>C | CA414897608 | F8 | c.6928A>G (p.Thr2310Ala) c.661A>G (p.Thr221Ala) c.523A>G (p.Thr175Ala) c.6823A>G (p.Thr2275Ala) | |
| X | g.154837725T>G | CA414897603 | F8 | c.6928A>C (p.Thr2310Pro) c.661A>C (p.Thr221Pro) c.523A>C (p.Thr175Pro) c.6823A>C (p.Thr2275Pro) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154837725T= | CA2466807461 | F8 | c.6928A= (p.Thr2310=) c.661A= (p.Thr221=) c.523A= (p.Thr175=) c.6823A= (p.Thr2275=) | |
| X | g.154837725_154837726delinsAAATC | CA2695237115 | F8 | c.6927_6928delinsGATTT (p.Phe2309_Thr2310delinsLeuIleSer) c.660_661delinsGATTT (p.Phe220_Thr221delinsLeuIleSer) c.522_523delinsGATTT (p.Phe174_Thr175delinsLeuIleSer) c.6822_6823delinsGATTT (p.Phe2274_Thr2275delinsLeuIleSer) | |
| X | g.154837726G>A | CA519355310 | F8 | c.6927C>T (p.Phe2309=) c.660C>T (p.Phe220=) c.522C>T (p.Phe174=) c.6822C>T (p.Phe2274=) | |
| X | g.154837726G>C | CA414897610 | F8 | c.6927C>G (p.Phe2309Leu) c.660C>G (p.Phe220Leu) c.522C>G (p.Phe174Leu) c.6822C>G (p.Phe2274Leu) | |
| X | g.154837726G>T | CA414897613 | F8 | c.6927C>A (p.Phe2309Leu) c.660C>A (p.Phe220Leu) c.522C>A (p.Phe174Leu) c.6822C>A (p.Phe2274Leu) | |
| X | g.154837727A>C | CA414897618 | F8 | c.6926T>G (p.Phe2309Cys) c.659T>G (p.Phe220Cys) c.521T>G (p.Phe174Cys) c.6821T>G (p.Phe2274Cys) | |
| X | g.154837727A>G | CA414897622 | F8 | c.6926T>C (p.Phe2309Ser) c.659T>C (p.Phe220Ser) c.521T>C (p.Phe174Ser) c.6821T>C (p.Phe2274Ser) | |
| X | g.154837727A>T | CA414897625 | F8 | c.6926T>A (p.Phe2309Tyr) c.659T>A (p.Phe220Tyr) c.521T>A (p.Phe174Tyr) c.6821T>A (p.Phe2274Tyr) | gnomAD v4 |
| X | g.154837727_154837730delinsAAGG | CA2466807462 | F8 | c.6923_6926delinsCCTT (p.Ser2308=) c.656_659delinsCCTT (p.Ser219=) c.518_521delinsCCTT (p.Ser173=) c.6818_6821delinsCCTT (p.Ser2273=) | |
| X | g.154837728A>C | CA414897633 | F8 | c.6925T>G (p.Phe2309Val) c.658T>G (p.Phe220Val) c.520T>G (p.Phe174Val) c.6820T>G (p.Phe2274Val) | |
| X | g.154837728A>G | CA414897650 | F8 | c.6925T>C (p.Phe2309Leu) c.658T>C (p.Phe220Leu) c.520T>C (p.Phe174Leu) c.6820T>C (p.Phe2274Leu) | gnomAD v4 |
| X | g.154837728A>T | CA414897665 | F8 | c.6925T>A (p.Phe2309Ile) c.658T>A (p.Phe220Ile) c.520T>A (p.Phe174Ile) c.6820T>A (p.Phe2274Ile) | |
| X | g.154837730_154837732del | CA2466807463 | F8 | c.6923_6925del (p.Ser2308del) c.656_658del (p.Ser219del) c.518_520del (p.Ser173del) c.6818_6820del (p.Ser2273del) | dbSNP |
| X | g.154837729G>A | CA519355311 | F8 | c.6924C>T (p.Ser2308=) c.657C>T (p.Ser219=) c.519C>T (p.Ser173=) c.6819C>T (p.Ser2273=) | |
| X | g.154837729G>C | CA519355312 | F8 | c.6924C>G (p.Ser2308=) c.657C>G (p.Ser219=) c.519C>G (p.Ser173=) c.6819C>G (p.Ser2273=) | |
| X | g.154837729G>T | CA519355313 | F8 | c.6924C>A (p.Ser2308=) c.657C>A (p.Ser219=) c.519C>A (p.Ser173=) c.6819C>A (p.Ser2273=) | |
| X | g.154837730G>A | CA414897673 | F8 | c.6923C>T (p.Ser2308Phe) c.656C>T (p.Ser219Phe) c.518C>T (p.Ser173Phe) c.6818C>T (p.Ser2273Phe) | gnomAD v4 |
| X | g.154837730G>C | CA414897678 | F8 | c.6923C>G (p.Ser2308Cys) c.656C>G (p.Ser219Cys) c.518C>G (p.Ser173Cys) c.6818C>G (p.Ser2273Cys) | |
| X | g.154837730G>T | CA414897681 | F8 | c.6923C>A (p.Ser2308Tyr) c.656C>A (p.Ser219Tyr) c.518C>A (p.Ser173Tyr) c.6818C>A (p.Ser2273Tyr) | COSMIC COSMIC |
| X | g.154837731A>C | CA414897685 | F8 | c.6922T>G (p.Ser2308Ala) c.655T>G (p.Ser219Ala) c.517T>G (p.Ser173Ala) c.6817T>G (p.Ser2273Ala) | |
| X | g.154837731A>G | CA414897702 | F8 | c.6922T>C (p.Ser2308Pro) c.655T>C (p.Ser219Pro) c.517T>C (p.Ser173Pro) c.6817T>C (p.Ser2273Pro) | |
| X | g.154837731A>T | CA414897698 | F8 | c.6922T>A (p.Ser2308Thr) c.655T>A (p.Ser219Thr) c.517T>A (p.Ser173Thr) c.6817T>A (p.Ser2273Thr) | |
| X | g.154837732G>A | CA519355314 | F8 | c.6921C>T (p.Asp2307=) c.654C>T (p.Asp218=) c.516C>T (p.Asp172=) c.6816C>T (p.Asp2272=) | |
| X | g.154837732G>C | CA414897707 | F8 | c.6921C>G (p.Asp2307Glu) c.654C>G (p.Asp218Glu) c.516C>G (p.Asp172Glu) c.6816C>G (p.Asp2272Glu) | |
| X | g.154837732G>T | CA414897711 | F8 | c.6921C>A (p.Asp2307Glu) c.654C>A (p.Asp218Glu) c.516C>A (p.Asp172Glu) c.6816C>A (p.Asp2272Glu) | |
| X | g.154837733T>A | CA414897719 | F8 | c.6920A>T (p.Asp2307Val) c.653A>T (p.Asp218Val) c.515A>T (p.Asp172Val) c.6815A>T (p.Asp2272Val) | |
| X | g.154837733T>C | CA414897725 | F8 | c.6920A>G (p.Asp2307Gly) c.653A>G (p.Asp218Gly) c.515A>G (p.Asp172Gly) c.6815A>G (p.Asp2272Gly) | |
| X | g.154837733T>G | CA414897728 | F8 | c.6920A>C (p.Asp2307Ala) c.653A>C (p.Asp218Ala) c.515A>C (p.Asp172Ala) c.6815A>C (p.Asp2272Ala) | ClinVar dbSNP |
| X | g.154837733T= | CA2466807464 | F8 | c.6920A= (p.Asp2307=) c.653A= (p.Asp218=) c.515A= (p.Asp172=) c.6815A= (p.Asp2272=) | |
| X | g.154837734_154837735del | CA2695237116 | F8 | c.6919_6920del (p.Asp2307LeufsTer?) c.652_653del (p.Asp218LeufsTer?) c.514_515del (p.Asp172LeufsTer?) c.6814_6815del (p.Asp2272LeufsTer?) | |
| X | g.154837734C>A | CA414897732 | F8 | c.6919G>T (p.Asp2307Tyr) c.652G>T (p.Asp218Tyr) c.514G>T (p.Asp172Tyr) c.6814G>T (p.Asp2272Tyr) | |
| X | g.154837734C>G | CA414897733 | F8 | c.6919G>C (p.Asp2307His) c.652G>C (p.Asp218His) c.514G>C (p.Asp172His) c.6814G>C (p.Asp2272His) | |
| X | g.154837734C>T | CA414897734 | F8 | c.6919G>A (p.Asp2307Asn) c.652G>A (p.Asp218Asn) c.514G>A (p.Asp172Asn) c.6814G>A (p.Asp2272Asn) | |
| X | g.154837734_154837739delinsCTTGAT | CA2466807465 | F8 | c.6914_6919delinsATCAAG (p.Asn2305=) c.647_652delinsATCAAG (p.Asn216=) c.509_514delinsATCAAG (p.Asn170=) c.6809_6814delinsATCAAG (p.Asn2270=) | |
| X | g.154837735T>A | CA414897738 | F8 | c.6918A>T (p.Gln2306His) c.651A>T (p.Gln217His) c.513A>T (p.Gln171His) c.6813A>T (p.Gln2271His) | COSMIC COSMIC |
| X | g.154837735T>C | CA519355315 | F8 | c.6918A>G (p.Gln2306=) c.651A>G (p.Gln217=) c.513A>G (p.Gln171=) c.6813A>G (p.Gln2271=) | gnomAD v4 |
| X | g.154837735T>G | CA414897741 | F8 | c.6918A>C (p.Gln2306His) c.651A>C (p.Gln217His) c.513A>C (p.Gln171His) c.6813A>C (p.Gln2271His) | |
| X | g.154837737_154837741del | CA255223 | F8 | c.6914_6918del (p.Asn2305ArgfsTer?) c.647_651del (p.Asn216ArgfsTer?) c.509_513del (p.Asn170ArgfsTer?) c.6809_6813del (p.Asn2270ArgfsTer?) | ClinVar dbSNP |
| X | g.154837736T>A | CA414897754 | F8 | c.6917A>T (p.Gln2306Leu) c.650A>T (p.Gln217Leu) c.512A>T (p.Gln171Leu) c.6812A>T (p.Gln2271Leu) | |
| X | g.154837736T>C | CA414897771 | F8 | c.6917A>G (p.Gln2306Arg) c.650A>G (p.Gln217Arg) c.512A>G (p.Gln171Arg) c.6812A>G (p.Gln2271Arg) | |
| X | g.154837736T>G | CA414897775 | F8 | c.6917A>C (p.Gln2306Pro) c.650A>C (p.Gln217Pro) c.512A>C (p.Gln171Pro) c.6812A>C (p.Gln2271Pro) | |
| X | g.154837736_154837737delinsTG | CA2466807466 | F8 | c.6916_6917delinsCA (p.Gln2306=) c.649_650delinsCA (p.Gln217=) c.511_512delinsCA (p.Gln171=) c.6811_6812delinsCA (p.Gln2271=) | |
| X | g.154837737del | CA873361049 | F8 | c.6916del (p.Gln2306LysfsTer8) c.649del (p.Gln217LysfsTer8) c.511del (p.Gln171LysfsTer8) c.6811del (p.Gln2271LysfsTer8) | dbSNP |
| X | g.154837737G>A | CA414897780 | F8 | c.6916C>T (p.Gln2306Ter) c.649C>T (p.Gln217Ter) c.511C>T (p.Gln171Ter) c.6811C>T (p.Gln2271Ter) | |
| X | g.154837737G>C | CA414897788 | F8 | c.6916C>G (p.Gln2306Glu) c.649C>G (p.Gln217Glu) c.511C>G (p.Gln171Glu) c.6811C>G (p.Gln2271Glu) | |
| X | g.154837737G>T | CA414897783 | F8 | c.6916C>A (p.Gln2306Lys) c.649C>A (p.Gln217Lys) c.511C>A (p.Gln171Lys) c.6811C>A (p.Gln2271Lys) | |
| X | g.154837738A>C | CA414897793 | F8 | c.6915T>G (p.Asn2305Lys) c.648T>G (p.Asn216Lys) c.510T>G (p.Asn170Lys) c.6810T>G (p.Asn2270Lys) | |
| X | g.154837738A>G | CA519355317 | F8 | c.6915T>C (p.Asn2305=) c.648T>C (p.Asn216=) c.510T>C (p.Asn170=) c.6810T>C (p.Asn2270=) | |
| X | g.154837738A>T | CA414897807 | F8 | c.6915T>A (p.Asn2305Lys) c.648T>A (p.Asn216Lys) c.510T>A (p.Asn170Lys) c.6810T>A (p.Asn2270Lys) | |
| X | g.154837739T>A | CA414897810 | F8 | c.6914A>T (p.Asn2305Ile) c.647A>T (p.Asn216Ile) c.509A>T (p.Asn170Ile) c.6809A>T (p.Asn2270Ile) | |
| X | g.154837739T>C | CA414897812 | F8 | c.6914A>G (p.Asn2305Ser) c.647A>G (p.Asn216Ser) c.509A>G (p.Asn170Ser) c.6809A>G (p.Asn2270Ser) | |
| X | g.154837739T>G | CA414897813 | F8 | c.6914A>C (p.Asn2305Thr) c.647A>C (p.Asn216Thr) c.509A>C (p.Asn170Thr) c.6809A>C (p.Asn2270Thr) | |
| X | g.154837740T>A | CA414897817 | F8 | c.6913A>T (p.Asn2305Tyr) c.646A>T (p.Asn216Tyr) c.508A>T (p.Asn170Tyr) c.6808A>T (p.Asn2270Tyr) | |
| X | g.154837740T>C | CA414897823 | F8 | c.6913A>G (p.Asn2305Asp) c.646A>G (p.Asn216Asp) c.508A>G (p.Asn170Asp) c.6808A>G (p.Asn2270Asp) | |
| X | g.154837740T>G | CA414897837 | F8 | c.6913A>C (p.Asn2305His) c.646A>C (p.Asn216His) c.508A>C (p.Asn170His) c.6808A>C (p.Asn2270His) | |
| X | g.154837741T>A | CA519355318 | F8 | c.6912A>T (p.Gly2304=) c.645A>T (p.Gly215=) c.507A>T (p.Gly169=) c.6807A>T (p.Gly2269=) | |
| X | g.154837741T>C | CA519355319 | F8 | c.6912A>G (p.Gly2304=) c.645A>G (p.Gly215=) c.507A>G (p.Gly169=) c.6807A>G (p.Gly2269=) | |
| X | g.154837741T>G | CA519355320 | F8 | c.6912A>C (p.Gly2304=) c.645A>C (p.Gly215=) c.507A>C (p.Gly169=) c.6807A>C (p.Gly2269=) | |
| X | g.154837742C>A | CA414897842 | F8 | c.6911G>T (p.Gly2304Val) c.644G>T (p.Gly215Val) c.506G>T (p.Gly169Val) c.6806G>T (p.Gly2269Val) | dbSNP |
| X | g.154837742C= | CA2466807467 | F8 | c.6911G= (p.Gly2304=) c.644G= (p.Gly215=) c.506G= (p.Gly169=) c.6806G= (p.Gly2269=) | |
| X | g.154837742C>G | CA414897853 | F8 | c.6911G>C (p.Gly2304Ala) c.644G>C (p.Gly215Ala) c.506G>C (p.Gly169Ala) c.6806G>C (p.Gly2269Ala) | |
| X | g.154837742C>T | CA414897850 | F8 | c.6911G>A (p.Gly2304Glu) c.644G>A (p.Gly215Glu) c.506G>A (p.Gly169Glu) c.6806G>A (p.Gly2269Glu) | dbSNP COSMIC COSMIC |
| X | g.154837743C>A | CA414897859 | F8 | c.6910G>T (p.Gly2304Ter) c.643G>T (p.Gly215Ter) c.505G>T (p.Gly169Ter) c.6805G>T (p.Gly2269Ter) | |
| X | g.154837743C>G | CA414897862 | F8 | c.6910G>C (p.Gly2304Arg) c.643G>C (p.Gly215Arg) c.505G>C (p.Gly169Arg) c.6805G>C (p.Gly2269Arg) | |
| X | g.154837743C>T | CA414897861 | F8 | c.6910G>A (p.Gly2304Arg) c.643G>A (p.Gly215Arg) c.505G>A (p.Gly169Arg) c.6805G>A (p.Gly2269Arg) | |
| X | g.154837744C>A | CA414897864 | F8 | c.6909G>T (p.Gln2303His) c.642G>T (p.Gln214His) c.504G>T (p.Gln168His) c.6804G>T (p.Gln2268His) | |
| X | g.154837744C>G | CA414897866 | F8 | c.6909G>C (p.Gln2303His) c.642G>C (p.Gln214His) c.504G>C (p.Gln168His) c.6804G>C (p.Gln2268His) | |
| X | g.154837744C>T | CA519355321 | F8 | c.6909G>A (p.Gln2303=) c.642G>A (p.Gln214=) c.504G>A (p.Gln168=) c.6804G>A (p.Gln2268=) | |
| X | g.154837745T>A | CA414897868 | F8 | c.6908A>T (p.Gln2303Leu) c.641A>T (p.Gln214Leu) c.503A>T (p.Gln168Leu) c.6803A>T (p.Gln2268Leu) | |
| X | g.154837745T>C | CA414897870 | F8 | c.6908A>G (p.Gln2303Arg) c.641A>G (p.Gln214Arg) c.503A>G (p.Gln168Arg) c.6803A>G (p.Gln2268Arg) | |
| X | g.154837745T>G | CA414897875 | F8 | c.6908A>C (p.Gln2303Pro) c.641A>C (p.Gln214Pro) c.503A>C (p.Gln168Pro) c.6803A>C (p.Gln2268Pro) | |
| X | g.154837745_154837746delinsTG | CA2466807468 | F8 | c.6907_6908delinsCA (p.Gln2303=) c.640_641delinsCA (p.Gln214=) c.502_503delinsCA (p.Gln168=) c.6802_6803delinsCA (p.Gln2268=) | |
| X | g.154837746del | CA873361072 | F8 | c.6907del (p.Gln2303ArgfsTer11) c.640del (p.Gln214ArgfsTer11) c.502del (p.Gln168ArgfsTer11) c.6802del (p.Gln2268ArgfsTer11) | dbSNP |
| X | g.154837746G>A | CA414897882 | F8 | c.6907C>T (p.Gln2303Ter) c.640C>T (p.Gln214Ter) c.502C>T (p.Gln168Ter) c.6802C>T (p.Gln2268Ter) | |
| X | g.154837746G>C | CA414897885 | F8 | c.6907C>G (p.Gln2303Glu) c.640C>G (p.Gln214Glu) c.502C>G (p.Gln168Glu) c.6802C>G (p.Gln2268Glu) | COSMIC COSMIC |
| X | g.154837746G>T | CA414897886 | F8 | c.6907C>A (p.Gln2303Lys) c.640C>A (p.Gln214Lys) c.502C>A (p.Gln168Lys) c.6802C>A (p.Gln2268Lys) | |
| X | g.154837747A>C | CA414897887 | F8 | c.6906T>G (p.Phe2302Leu) c.639T>G (p.Phe213Leu) c.501T>G (p.Phe167Leu) c.6801T>G (p.Phe2267Leu) | |
| X | g.154837747A>G | CA519355322 | F8 | c.6906T>C (p.Phe2302=) c.639T>C (p.Phe213=) c.501T>C (p.Phe167=) c.6801T>C (p.Phe2267=) | |
| X | g.154837747A>T | CA414897899 | F8 | c.6906T>A (p.Phe2302Leu) c.639T>A (p.Phe213Leu) c.501T>A (p.Phe167Leu) c.6801T>A (p.Phe2267Leu) | |
| X | g.154837751del | CA2695237117 | F8 | c.6906del (p.Gln2303ArgfsTer11) c.639del (p.Gln214ArgfsTer11) c.501del (p.Gln168ArgfsTer11) c.6801del (p.Gln2268ArgfsTer11) | |
| X | g.154837748A>C | CA414897912 | F8 | c.6905T>G (p.Phe2302Cys) c.638T>G (p.Phe213Cys) c.500T>G (p.Phe167Cys) c.6800T>G (p.Phe2267Cys) | |
| X | g.154837748A>G | CA414897905 | F8 | c.6905T>C (p.Phe2302Ser) c.638T>C (p.Phe213Ser) c.500T>C (p.Phe167Ser) c.6800T>C (p.Phe2267Ser) | |
| X | g.154837748A>T | CA414897908 | F8 | c.6905T>A (p.Phe2302Tyr) c.638T>A (p.Phe213Tyr) c.500T>A (p.Phe167Tyr) c.6800T>A (p.Phe2267Tyr) | |
| X | g.154837749A>C | CA414897921 | F8 | c.6904T>G (p.Phe2302Val) c.637T>G (p.Phe213Val) c.499T>G (p.Phe167Val) c.6799T>G (p.Phe2267Val) | |
| X | g.154837749A>G | CA414897926 | F8 | c.6904T>C (p.Phe2302Leu) c.637T>C (p.Phe213Leu) c.499T>C (p.Phe167Leu) c.6799T>C (p.Phe2267Leu) | |
| X | g.154837749A>T | CA414897933 | F8 | c.6904T>A (p.Phe2302Ile) c.637T>A (p.Phe213Ile) c.499T>A (p.Phe167Ile) c.6799T>A (p.Phe2267Ile) | |
| X | g.154837750A>C | CA519355323 | F8 | c.6903T>G (p.Val2301=) c.636T>G (p.Val212=) c.498T>G (p.Val166=) c.6798T>G (p.Val2266=) | |
| X | g.154837750A>G | CA519355324 | F8 | c.6903T>C (p.Val2301=) c.636T>C (p.Val212=) c.498T>C (p.Val166=) c.6798T>C (p.Val2266=) | |
| X | g.154837750A>T | CA519355325 | F8 | c.6903T>A (p.Val2301=) c.636T>A (p.Val212=) c.498T>A (p.Val166=) c.6798T>A (p.Val2266=) | |
| X | g.154837751A>C | CA414897938 | F8 | c.6902T>G (p.Val2301Gly) c.635T>G (p.Val212Gly) c.497T>G (p.Val166Gly) c.6797T>G (p.Val2266Gly) | COSMIC COSMIC |
| X | g.154837751A>G | CA414897940 | F8 | c.6902T>C (p.Val2301Ala) c.635T>C (p.Val212Ala) c.497T>C (p.Val166Ala) c.6797T>C (p.Val2266Ala) | |
| X | g.154837751A>T | CA414897941 | F8 | c.6902T>A (p.Val2301Asp) c.635T>A (p.Val212Asp) c.497T>A (p.Val166Asp) c.6797T>A (p.Val2266Asp) | |
| X | g.154837752C>A | CA414897946 | F8 | c.6901G>T (p.Val2301Phe) c.634G>T (p.Val212Phe) c.496G>T (p.Val166Phe) c.6796G>T (p.Val2266Phe) | |
| X | g.154837752C= | CA2466807469 | F8 | c.6901G= (p.Val2301=) c.634G= (p.Val212=) c.496G= (p.Val166=) c.6796G= (p.Val2266=) | |
| X | g.154837752C>G | CA414897949 | F8 | c.6901G>C (p.Val2301Leu) c.634G>C (p.Val212Leu) c.496G>C (p.Val166Leu) c.6796G>C (p.Val2266Leu) | |
| X | g.154837752C>T | CA337319469 | F8 | c.6901G>A (p.Val2301Ile) c.634G>A (p.Val212Ile) c.496G>A (p.Val166Ile) c.6796G>A (p.Val2266Ile) | dbSNP gnomAD v4 |
| X | g.154837753C>A | CA414897970 | F8 | c.6901-1G>T (n.6901-1G>T) c.634-1G>T (n.634-1G>T) c.496-1G>T (n.496-1G>T) c.6796-1G>T (n.6796-1G>T) | |
| X | g.154837753C>G | CA414897973 | F8 | c.6901-1G>C (n.6901-1G>C) c.634-1G>C (n.634-1G>C) c.496-1G>C (n.496-1G>C) c.6796-1G>C (n.6796-1G>C) | |
| X | g.154837753C>T | CA414897959 | F8 | c.6901-1G>A (n.6901-1G>A) c.634-1G>A (n.634-1G>A) c.496-1G>A (n.496-1G>A) c.6796-1G>A (n.6796-1G>A) | |
| X | g.154837754T>A | CA414897977 | F8 | c.6901-2A>T (n.6901-2A>T) c.634-2A>T (n.634-2A>T) c.496-2A>T (n.496-2A>T) c.6796-2A>T (n.6796-2A>T) | |
| X | g.154837754T>C | CA414897981 | F8 | c.6901-2A>G (n.6901-2A>G) c.634-2A>G (n.634-2A>G) c.496-2A>G (n.496-2A>G) c.6796-2A>G (n.6796-2A>G) | COSMIC COSMIC |
| X | g.154837754T>G | CA414897987 | F8 | c.6901-2A>C (n.6901-2A>C) c.634-2A>C (n.634-2A>C) c.496-2A>C (n.496-2A>C) c.6796-2A>C (n.6796-2A>C) | |
| X | g.154837756A= | CA2466807470 | F8 | c.6901-4T= (n.6901-4T=) c.634-4T= (n.634-4T=) c.496-4T= (n.496-4T=) c.6796-4T= (n.6796-4T=) | |
| X | g.154837756A>G | CA645237061 | F8 | c.6901-4T>C (n.6901-4T>C) c.634-4T>C (n.634-4T>C) c.496-4T>C (n.496-4T>C) c.6796-4T>C (n.6796-4T>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154837757A= | CA2466807471 | F8 | c.6901-5T= (n.6901-5T=) c.634-5T= (n.634-5T=) c.496-5T= (n.496-5T=) c.6796-5T= (n.6796-5T=) | |
| X | g.154837759_154837776dup | CA645237062 | F8 | c.6901-23_6901-6dup (n.6901-23_6901-6dup) c.634-23_634-6dup (n.634-23_634-6dup) c.496-23_496-6dup (n.496-23_496-6dup) c.6796-23_6796-6dup (n.6796-23_6796-6dup) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154837759G>A | CA645237063 | F8 | c.6901-7C>T (n.6901-7C>T) c.634-7C>T (n.634-7C>T) c.496-7C>T (n.496-7C>T) c.6796-7C>T (n.6796-7C>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154837759G= | CA2466807472 | F8 | c.6901-7C= (n.6901-7C=) c.634-7C= (n.634-7C=) c.496-7C= (n.496-7C=) c.6796-7C= (n.6796-7C=) | |
| X | g.154837760A= | CA2466807473 | F8 | c.6901-8T= (n.6901-8T=) c.634-8T= (n.634-8T=) c.496-8T= (n.496-8T=) c.6796-8T= (n.6796-8T=) | |
| X | g.154837760A>C | CA2466807474 | F8 | c.6901-8T>G (n.6901-8T>G) c.634-8T>G (n.634-8T>G) c.496-8T>G (n.496-8T>G) c.6796-8T>G (n.6796-8T>G) | dbSNP |
| X | g.154837760A>G | CA10567731 | F8 | c.6901-8T>C (n.6901-8T>C) c.634-8T>C (n.634-8T>C) c.496-8T>C (n.496-8T>C) c.6796-8T>C (n.6796-8T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154837764A>G | CA2824312711 | F8 | c.6901-12T>C (n.6901-12T>C) c.634-12T>C (n.634-12T>C) c.496-12T>C (n.496-12T>C) c.6796-12T>C (n.6796-12T>C) | |
| X | g.154837767A= | CA2466807475 | F8 | c.6901-15T= (n.6901-15T=) c.634-15T= (n.634-15T=) c.496-15T= (n.496-15T=) c.6796-15T= (n.6796-15T=) | |
| X | g.154837767A>C | CA2466807476 | F8 | c.6901-15T>G (n.6901-15T>G) c.634-15T>G (n.634-15T>G) c.496-15T>G (n.496-15T>G) c.6796-15T>G (n.6796-15T>G) | dbSNP |
| X | g.154837768_154837769del | CA2695167413 | F8 | c.6901-16_6901-15del (n.6901-16_6901-15del) c.634-16_634-15del (n.634-16_634-15del) c.496-16_496-15del (n.496-16_496-15del) c.6796-16_6796-15del (n.6796-16_6796-15del) | gnomAD v4 |
| X | g.154837767_154837768insAAAGAAAAAGAAAATCAAGAGAAAGAGGAGTTGCATCACAAATATACTCACATTCC | CA2741807119 | F8 | c.6901-16_6901-15insGGAATGTGAGTATATTTGTGATGCAACTCCTCTTTCTCTTGATTTTCTTTTTCTTT (n.6901-16_6901-15insGGAATGTGAGTATATTTGTGATGCAACTCCTCTTTCTCTTGATTTTCTTTTTCTTT) c.634-16_634-15insGGAATGTGAGTATATTTGTGATGCAACTCCTCTTTCTCTTGATTTTCTTTTTCTTT (n.634-16_634-15insGGAATGTGAGTATATTTGTGATGCAACTCCTCTTTCTCTTGATTTTCTTTTTCTTT) c.496-16_496-15insGGAATGTGAGTATATTTGTGATGCAACTCCTCTTTCTCTTGATTTTCTTTTTCTTT (n.496-16_496-15insGGAATGTGAGTATATTTGTGATGCAACTCCTCTTTCTCTTGATTTTCTTTTTCTTT) c.6796-16_6796-15insGGAATGTGAGTATATTTGTGATGCAACTCCTCTTTCTCTTGATTTTCTTTTTCTTT (n.6796-16_6796-15insGGAATGTGAGTATATTTGTGATGCAACTCCTCTTTCTCTTGATTTTCTTTTTCTTT) | |
| X | g.154837768T>C | CA645237064 | F8 | c.6901-16A>G (n.6901-16A>G) c.634-16A>G (n.634-16A>G) c.496-16A>G (n.496-16A>G) c.6796-16A>G (n.6796-16A>G) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154837768T= | CA2466807477 | F8 | c.6901-16A= (n.6901-16A=) c.634-16A= (n.634-16A=) c.496-16A= (n.496-16A=) c.6796-16A= (n.6796-16A=) | |
| X | g.154837770G>T | CA2695167414 | F8 | c.6901-18C>A (n.6901-18C>A) c.634-18C>A (n.634-18C>A) c.496-18C>A (n.496-18C>A) c.6796-18C>A (n.6796-18C>A) | gnomAD v4 |
| X | g.154837771C>T | CA2695167415 | F8 | c.6901-19G>A (n.6901-19G>A) c.634-19G>A (n.634-19G>A) c.496-19G>A (n.496-19G>A) c.6796-19G>A (n.6796-19G>A) | gnomAD v4 |
| X | g.154837772A>G | CA2695167416 | F8 | c.6901-20T>C (n.6901-20T>C) c.634-20T>C (n.634-20T>C) c.496-20T>C (n.496-20T>C) c.6796-20T>C (n.6796-20T>C) | gnomAD v4 |
| X | g.154837775T>C | CA2579744057 | F8 | c.6901-23A>G (n.6901-23A>G) c.634-23A>G (n.634-23A>G) c.496-23A>G (n.496-23A>G) c.6796-23A>G (n.6796-23A>G) | gnomAD v4 |