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.154969417_154969422delinsGAGATT | CA2466848996 | F8 | c.918_923delinsAATCTC (p.Glu306=) c.*794_*799delinsAATCTC (n.*794_*799delinsAATCTC) c.813_818delinsAATCTC (p.Glu271=) | |
| 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.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=) | |
| X | g.154969480G>A | CA414918174 | F8 | c.860C>T (p.Ser287Leu) c.*736C>T (n.*736C>T) c.755C>T (p.Ser252Leu) | |
| X | g.154969480G>C | CA414918176 | F8 | c.860C>G (p.Ser287Ter) c.*736C>G (n.*736C>G) c.755C>G (p.Ser252Ter) | dbSNP |
| X | g.154969480G= | CA2466849034 | F8 | c.860C= (p.Ser287=) c.*736C= (n.*736C=) c.755C= (p.Ser252=) | |
| X | g.154969480G>T | CA414918178 | F8 | c.860C>A (p.Ser287Ter) c.*736C>A (n.*736C>A) c.755C>A (p.Ser252Ter) | dbSNP |
| X | g.154969481A>C | CA414918180 | F8 | c.859T>G (p.Ser287Ala) c.*735T>G (n.*735T>G) c.754T>G (p.Ser252Ala) | |
| X | g.154969481A>G | CA414918182 | F8 | c.859T>C (p.Ser287Pro) c.*735T>C (n.*735T>C) c.754T>C (p.Ser252Pro) | |
| X | g.154969481A>T | CA414918184 | F8 | c.859T>A (p.Ser287Thr) c.*735T>A (n.*735T>A) c.754T>A (p.Ser252Thr) | |
| X | g.154969482G>A | CA519367560 | F8 | c.858C>T (p.His286=) c.*734C>T (n.*734C>T) c.753C>T (p.His251=) | gnomAD v4 |
| X | g.154969482G>C | CA414918187 | F8 | c.858C>G (p.His286Gln) c.*734C>G (n.*734C>G) c.753C>G (p.His251Gln) | dbSNP |
| X | g.154969482G= | CA2466849035 | F8 | c.858C= (p.His286=) c.*734C= (n.*734C=) c.753C= (p.His251=) | |
| X | g.154969482G>T | CA414918185 | F8 | c.858C>A (p.His286Gln) c.*734C>A (n.*734C>A) c.753C>A (p.His251Gln) | |
| X | g.154969483T>A | CA414918189 | F8 | c.857A>T (p.His286Leu) c.*733A>T (n.*733A>T) c.752A>T (p.His251Leu) | |
| X | g.154969483T>C | CA414918191 | F8 | c.857A>G (p.His286Arg) c.*733A>G (n.*733A>G) c.752A>G (p.His251Arg) | dbSNP |
| X | g.154969483T>G | CA414918192 | F8 | c.857A>C (p.His286Pro) c.*733A>C (n.*733A>C) c.752A>C (p.His251Pro) | |
| X | g.154969483T= | CA2466849036 | F8 | c.857A= (p.His286=) c.*733A= (n.*733A=) c.752A= (p.His251=) | |
| X | g.154969483dup | CA2695237471 | F8 | c.857dup (p.His286GlnfsTer?) c.*733dup (n.*733dup) c.752dup (p.His251GlnfsTer?) | |
| X | g.154969484G>A | CA414918193 | F8 | c.856C>T (p.His286Tyr) c.*732C>T (n.*732C>T) c.751C>T (p.His251Tyr) | dbSNP |
| X | g.154969484G>C | CA414918194 | F8 | c.856C>G (p.His286Asp) c.*732C>G (n.*732C>G) c.751C>G (p.His251Asp) | |
| X | g.154969484G= | CA2466849037 | F8 | c.856C= (p.His286=) c.*732C= (n.*732C=) c.751C= (p.His251=) | |
| X | g.154969484G>T | CA414918196 | F8 | c.856C>A (p.His286Asn) c.*732C>A (n.*732C>A) c.751C>A (p.His251Asn) | |
| X | g.154969485C>A | CA519367569 | F8 | c.855G>T (p.Val285=) c.*731G>T (n.*731G>T) c.750G>T (p.Val250=) | |
| X | g.154969485C= | CA2466849038 | F8 | c.855G= (p.Val285=) c.*731G= (n.*731G=) c.750G= (p.Val250=) | |
| X | g.154969485C>G | CA519367571 | F8 | c.855G>C (p.Val285=) c.*731G>C (n.*731G>C) c.750G>C (p.Val250=) | |
| X | g.154969485C>T | CA519367572 | F8 | c.855G>A (p.Val285=) c.*731G>A (n.*731G>A) c.750G>A (p.Val250=) | dbSNP COSMIC COSMIC |
| X | g.154969485dup | CA2695237474 | F8 | c.855dup (p.His286AlafsTer?) c.*731dup (n.*731dup) c.750dup (p.His251AlafsTer?) | |
| X | g.154969486A= | CA2466849039 | F8 | c.854T= (p.Val285=) c.*730T= (n.*730T=) c.749T= (p.Val250=) | |
| X | g.154969486A>C | CA255076 | F8 | c.854T>G (p.Val285Gly) c.*730T>G (n.*730T>G) c.749T>G (p.Val250Gly) | ClinVar dbSNP |
| X | g.154969486A>G | CA414918199 | F8 | c.854T>C (p.Val285Ala) c.*730T>C (n.*730T>C) c.749T>C (p.Val250Ala) | |
| X | g.154969486A>T | CA414918201 | F8 | c.854T>A (p.Val285Glu) c.*730T>A (n.*730T>A) c.749T>A (p.Val250Glu) | |
| X | g.154969487C>A | CA414918203 | F8 | c.853G>T (p.Val285Leu) c.*729G>T (n.*729G>T) c.748G>T (p.Val250Leu) | |
| X | g.154969487C= | CA2466849040 | F8 | c.853G= (p.Val285=) c.*729G= (n.*729G=) c.748G= (p.Val250=) | |
| X | g.154969487C>G | CA414918205 | F8 | c.853G>C (p.Val285Leu) c.*729G>C (n.*729G>C) c.748G>C (p.Val250Leu) | |
| X | g.154969487C>T | CA414918207 | F8 | c.853G>A (p.Val285Met) c.*729G>A (n.*729G>A) c.748G>A (p.Val250Met) | ClinVar dbSNP |
| X | g.154969488T>A | CA414918209 | F8 | c.852A>T (p.Glu284Asp) c.*728A>T (n.*728A>T) c.747A>T (p.Glu249Asp) | |
| X | g.154969488T>C | CA519367580 | F8 | c.852A>G (p.Glu284=) c.*728A>G (n.*728A>G) c.747A>G (p.Glu249=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154969488T>G | CA414918210 | F8 | c.852A>C (p.Glu284Asp) c.*728A>C (n.*728A>C) c.747A>C (p.Glu249Asp) | gnomAD v4 |
| X | g.154969488T= | CA2466849041 | F8 | c.852A= (p.Glu284=) c.*728A= (n.*728A=) c.747A= (p.Glu249=) | |
| X | g.154969489T>A | CA414918212 | F8 | c.851A>T (p.Glu284Val) c.*727A>T (n.*727A>T) c.746A>T (p.Glu249Val) | |
| X | g.154969489T>C | CA414918213 | F8 | c.851A>G (p.Glu284Gly) c.*727A>G (n.*727A>G) c.746A>G (p.Glu249Gly) | gnomAD v4 |
| X | g.154969489T>G | CA414918215 | F8 | c.851A>C (p.Glu284Ala) c.*727A>C (n.*727A>C) c.746A>C (p.Glu249Ala) | |
| X | g.154969490C>A | CA414918220 | F8 | c.850G>T (p.Glu284Ter) c.*726G>T (n.*726G>T) c.745G>T (p.Glu249Ter) | |
| X | g.154969490C>G | CA414918221 | F8 | c.850G>C (p.Glu284Gln) c.*726G>C (n.*726G>C) c.745G>C (p.Glu249Gln) | |
| X | g.154969490C>T | CA414918223 | F8 | c.850G>A (p.Glu284Lys) c.*726G>A (n.*726G>A) c.745G>A (p.Glu249Lys) | |
| X | g.154969490_154969491delinsCA | CA2466849042 | F8 | c.849_850delinsTG (p.Pro283=) c.*725_*726delinsTG (n.*725_*726delinsTG) c.744_745delinsTG (p.Pro248=) | |
| X | g.154969491del | CA255075 | F8 | c.849del (p.Glu284LysfsTer14) c.*725del (n.*725del) c.744del (p.Glu249LysfsTer14) | ClinVar dbSNP |
| X | g.154969491A>C | CA519367595 | F8 | c.849T>G (p.Pro283=) c.*725T>G (n.*725T>G) c.744T>G (p.Pro248=) | |
| X | g.154969491A>G | CA519367593 | F8 | c.849T>C (p.Pro283=) c.*725T>C (n.*725T>C) c.744T>C (p.Pro248=) | |
| X | g.154969491A>T | CA519367590 | F8 | c.849T>A (p.Pro283=) c.*725T>A (n.*725T>A) c.744T>A (p.Pro248=) | |
| X | g.154969492G>A | CA414918228 | F8 | c.848C>T (p.Pro283Leu) c.*724C>T (n.*724C>T) c.743C>T (p.Pro248Leu) | |
| X | g.154969492G>C | CA414918230 | F8 | c.848C>G (p.Pro283Arg) c.*724C>G (n.*724C>G) c.743C>G (p.Pro248Arg) | |
| X | g.154969492G>T | CA414918232 | F8 | c.848C>A (p.Pro283His) c.*724C>A (n.*724C>A) c.743C>A (p.Pro248His) | |
| X | g.154969493G>A | CA414918238 | F8 | c.847C>T (p.Pro283Ser) c.*723C>T (n.*723C>T) c.742C>T (p.Pro248Ser) | |
| X | g.154969493G>C | CA414918236 | F8 | c.847C>G (p.Pro283Ala) c.*723C>G (n.*723C>G) c.742C>G (p.Pro248Ala) | |
| X | g.154969493G>T | CA414918234 | F8 | c.847C>A (p.Pro283Thr) c.*723C>A (n.*723C>A) c.742C>A (p.Pro248Thr) | gnomAD v4 |
| X | g.154969494A>C | CA519367608 | F8 | c.846T>G (p.Thr282=) c.*722T>G (n.*722T>G) c.741T>G (p.Thr247=) | |
| X | g.154969494A>G | CA519367610 | F8 | c.846T>C (p.Thr282=) c.*722T>C (n.*722T>C) c.741T>C (p.Thr247=) | |
| X | g.154969494A>T | CA519367612 | F8 | c.846T>A (p.Thr282=) c.*722T>A (n.*722T>A) c.741T>A (p.Thr247=) | |
| X | g.154969495G>A | CA414918239 | F8 | c.845C>T (p.Thr282Ile) c.*721C>T (n.*721C>T) c.740C>T (p.Thr247Ile) | dbSNP |
| X | g.154969495G>C | CA414918240 | F8 | c.845C>G (p.Thr282Ser) c.*721C>G (n.*721C>G) c.740C>G (p.Thr247Ser) | |
| X | g.154969495G= | CA2466849043 | F8 | c.845C= (p.Thr282=) c.*721C= (n.*721C=) c.740C= (p.Thr247=) | |
| X | g.154969495G>T | CA414918242 | F8 | c.845C>A (p.Thr282Asn) c.*721C>A (n.*721C>A) c.740C>A (p.Thr247Asn) | |
| X | g.154969496T>A | CA414918243 | F8 | c.844A>T (p.Thr282Ser) c.*720A>T (n.*720A>T) c.739A>T (p.Thr247Ser) | |
| X | g.154969496T>C | CA414918245 | F8 | c.844A>G (p.Thr282Ala) c.*720A>G (n.*720A>G) c.739A>G (p.Thr247Ala) | dbSNP |
| X | g.154969496T>G | CA414918247 | F8 | c.844A>C (p.Thr282Pro) c.*720A>C (n.*720A>C) c.739A>C (p.Thr247Pro) | |
| X | g.154969496T= | CA2466849044 | F8 | c.844A= (p.Thr282=) c.*720A= (n.*720A=) c.739A= (p.Thr247=) | |
| X | g.154969497G>A | CA519367620 | F8 | c.843C>T (p.Thr281=) c.*719C>T (n.*719C>T) c.738C>T (p.Thr246=) | gnomAD v4 |
| X | g.154969497G>C | CA519367624 | F8 | c.843C>G (p.Thr281=) c.*719C>G (n.*719C>G) c.738C>G (p.Thr246=) | |
| X | g.154969497G>T | CA519367622 | F8 | c.843C>A (p.Thr281=) c.*719C>A (n.*719C>A) c.738C>A (p.Thr246=) | |
| X | g.154969498del | CA2695237479 | F8 | c.843del (p.Thr282LeufsTer16) c.*719del (n.*719del) c.738del (p.Thr247LeufsTer16) | |
| X | g.154969498G>A | CA414918249 | F8 | c.842C>T (p.Thr281Ile) c.*718C>T (n.*718C>T) c.737C>T (p.Thr246Ile) | ClinVar |
| X | g.154969498G>C | CA414918251 | F8 | c.842C>G (p.Thr281Ser) c.*718C>G (n.*718C>G) c.737C>G (p.Thr246Ser) | |
| X | g.154969498G= | CA2466849045 | F8 | c.842C= (p.Thr281=) c.*718C= (n.*718C=) c.737C= (p.Thr246=) | |
| X | g.154969498G>T | CA414918253 | F8 | c.842C>A (p.Thr281Asn) c.*718C>A (n.*718C>A) c.737C>A (p.Thr246Asn) | dbSNP gnomAD v4 |
| X | g.154969499T>A | CA414918256 | F8 | c.841A>T (p.Thr281Ser) c.*717A>T (n.*717A>T) c.736A>T (p.Thr246Ser) | |
| X | g.154969499T>C | CA10568530 | F8 | c.841A>G (p.Thr281Ala) c.*717A>G (n.*717A>G) c.736A>G (p.Thr246Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154969499T>G | CA414918258 | F8 | c.841A>C (p.Thr281Pro) c.*717A>C (n.*717A>C) c.736A>C (p.Thr246Pro) | |
| X | g.154969499T= | CA2466849046 | F8 | c.841A= (p.Thr281=) c.*717A= (n.*717A=) c.736A= (p.Thr246=) | |
| X | g.154969500_154969530del | CA2695237480 | F8 | c.811_841del (p.Ser271ProfsTer17) c.*687_*717del (n.*687_*717del) c.706_736del (p.Ser236ProfsTer17) | |
| X | g.154969500G>A | CA519367632 | F8 | c.840C>T (p.Gly280=) c.*716C>T (n.*716C>T) c.735C>T (p.Gly245=) | |
| X | g.154969500G>C | CA519367631 | F8 | c.840C>G (p.Gly280=) c.*716C>G (n.*716C>G) c.735C>G (p.Gly245=) | |
| X | g.154969500G>T | CA519367628 | F8 | c.840C>A (p.Gly280=) c.*716C>A (n.*716C>A) c.735C>A (p.Gly245=) | gnomAD v4 |
| X | g.154969501C>A | CA414918262 | F8 | c.839G>T (p.Gly280Val) c.*715G>T (n.*715G>T) c.734G>T (p.Gly245Val) | dbSNP |
| X | g.154969501C= | CA2466849047 | F8 | c.839G= (p.Gly280=) c.*715G= (n.*715G=) c.734G= (p.Gly245=) | |
| X | g.154969501C>G | CA414918264 | F8 | c.839G>C (p.Gly280Ala) c.*715G>C (n.*715G>C) c.734G>C (p.Gly245Ala) | |
| X | g.154969501C>T | CA414918260 | F8 | c.839G>A (p.Gly280Asp) c.*715G>A (n.*715G>A) c.734G>A (p.Gly245Asp) | ClinVar |
| X | g.154969502C>A | CA414918268 | F8 | c.838G>T (p.Gly280Cys) c.*714G>T (n.*714G>T) c.733G>T (p.Gly245Cys) | |
| X | g.154969502C= | CA2466849048 | F8 | c.838G= (p.Gly280=) c.*714G= (n.*714G=) c.733G= (p.Gly245=) | |
| X | g.154969502C>G | CA414918266 | F8 | c.838G>C (p.Gly280Arg) c.*714G>C (n.*714G>C) c.733G>C (p.Gly245Arg) | |
| X | g.154969502C>T | CA414918269 | F8 | c.838G>A (p.Gly280Ser) c.*714G>A (n.*714G>A) c.733G>A (p.Gly245Ser) | dbSNP |
| X | g.154969503C>A | CA414918272 | F8 | c.837G>T (p.Met279Ile) c.*713G>T (n.*713G>T) c.732G>T (p.Met244Ile) | |
| X | g.154969503C>G | CA414918274 | F8 | c.837G>C (p.Met279Ile) c.*713G>C (n.*713G>C) c.732G>C (p.Met244Ile) | |
| X | g.154969503C>T | CA414918275 | F8 | c.837G>A (p.Met279Ile) c.*713G>A (n.*713G>A) c.732G>A (p.Met244Ile) | |
| X | g.154969504A>C | CA414918277 | F8 | c.836T>G (p.Met279Arg) c.*712T>G (n.*712T>G) c.731T>G (p.Met244Arg) | ClinVar |
| X | g.154969504A>G | CA414918279 | F8 | c.836T>C (p.Met279Thr) c.*712T>C (n.*712T>C) c.731T>C (p.Met244Thr) | gnomAD v4 |
| X | g.154969504A>T | CA414918280 | F8 | c.836T>A (p.Met279Lys) c.*712T>A (n.*712T>A) c.731T>A (p.Met244Lys) | |
| X | g.154969505T>A | CA414918283 | F8 | c.835A>T (p.Met279Leu) c.*711A>T (n.*711A>T) c.730A>T (p.Met244Leu) | |
| X | g.154969505T>C | CA414918284 | F8 | c.835A>G (p.Met279Val) c.*711A>G (n.*711A>G) c.730A>G (p.Met244Val) | |
| X | g.154969505T>G | CA414918286 | F8 | c.835A>C (p.Met279Leu) c.*711A>C (n.*711A>C) c.730A>C (p.Met244Leu) | |
| X | g.154969506T>A | CA519367653 | F8 | c.834A>T (p.Gly278=) c.*710A>T (n.*710A>T) c.729A>T (p.Gly243=) | |
| X | g.154969506T>C | CA519367655 | F8 | c.834A>G (p.Gly278=) c.*710A>G (n.*710A>G) c.729A>G (p.Gly243=) | |
| X | g.154969506T>G | CA519367657 | F8 | c.834A>C (p.Gly278=) c.*710A>C (n.*710A>C) c.729A>C (p.Gly243=) | |
| X | g.154969507C>A | CA414918288 | F8 | c.833G>T (p.Gly278Val) c.*709G>T (n.*709G>T) c.728G>T (p.Gly243Val) | |
| X | g.154969507C>G | CA414918290 | F8 | c.833G>C (p.Gly278Ala) c.*709G>C (n.*709G>C) c.728G>C (p.Gly243Ala) | |
| X | g.154969507C>T | CA414918291 | F8 | c.833G>A (p.Gly278Glu) c.*709G>A (n.*709G>A) c.728G>A (p.Gly243Glu) | |
| X | g.154969508C>A | CA414918294 | F8 | c.832G>T (p.Gly278Ter) c.*708G>T (n.*708G>T) c.727G>T (p.Gly243Ter) | |
| X | g.154969508C= | CA2466849049 | F8 | c.832G= (p.Gly278=) c.*708G= (n.*708G=) c.727G= (p.Gly243=) | |
| X | g.154969508C>G | CA414918292 | F8 | c.832G>C (p.Gly278Arg) c.*708G>C (n.*708G>C) c.727G>C (p.Gly243Arg) | |
| X | g.154969508C>T | CA255074 | F8 | c.832G>A (p.Gly278Arg) c.*708G>A (n.*708G>A) c.727G>A (p.Gly243Arg) | ClinVar dbSNP |
| X | g.154969509A>C | CA414918296 | F8 | c.831T>G (p.Ile277Met) c.*707T>G (n.*707T>G) c.726T>G (p.Ile242Met) | |
| X | g.154969509A>G | CA519367671 | F8 | c.831T>C (p.Ile277=) c.*707T>C (n.*707T>C) c.726T>C (p.Ile242=) | |
| X | g.154969509A>T | CA519367673 | F8 | c.831T>A (p.Ile277=) c.*707T>A (n.*707T>A) c.726T>A (p.Ile242=) | |
| X | g.154969510A>C | CA414918299 | F8 | c.830T>G (p.Ile277Ser) c.*706T>G (n.*706T>G) c.725T>G (p.Ile242Ser) | |
| X | g.154969510A>G | CA414918300 | F8 | c.830T>C (p.Ile277Thr) c.*706T>C (n.*706T>C) c.725T>C (p.Ile242Thr) | |
| X | g.154969510A>T | CA414918302 | F8 | c.830T>A (p.Ile277Asn) c.*706T>A (n.*706T>A) c.725T>A (p.Ile242Asn) | |
| X | g.154969511T>A | CA414918305 | F8 | c.829A>T (p.Ile277Phe) c.*705A>T (n.*705A>T) c.724A>T (p.Ile242Phe) | |
| X | g.154969511T>C | CA414918306 | F8 | c.829A>G (p.Ile277Val) c.*705A>G (n.*705A>G) c.724A>G (p.Ile242Val) | |
| X | g.154969511T>G | CA414918308 | F8 | c.829A>C (p.Ile277Leu) c.*705A>C (n.*705A>C) c.724A>C (p.Ile242Leu) | |
| X | g.154969512C>A | CA519367687 | F8 | c.828G>T (p.Val276=) c.*704G>T (n.*704G>T) c.723G>T (p.Val241=) | |
| X | g.154969512C>G | CA519367688 | F8 | c.828G>C (p.Val276=) c.*704G>C (n.*704G>C) c.723G>C (p.Val241=) | |
| X | g.154969512C>T | CA519367690 | F8 | c.828G>A (p.Val276=) c.*704G>A (n.*704G>A) c.723G>A (p.Val241=) | |
| X | g.154969513A>C | CA414918310 | F8 | c.827T>G (p.Val276Gly) c.*703T>G (n.*703T>G) c.722T>G (p.Val241Gly) | |
| X | g.154969513A>G | CA414918312 | F8 | c.827T>C (p.Val276Ala) c.*703T>C (n.*703T>C) c.722T>C (p.Val241Ala) | |
| X | g.154969513A>T | CA414918313 | F8 | c.827T>A (p.Val276Glu) c.*703T>A (n.*703T>A) c.722T>A (p.Val241Glu) | |
| X | g.154969514C>A | CA414918318 | F8 | c.826G>T (p.Val276Leu) c.*702G>T (n.*702G>T) c.721G>T (p.Val241Leu) | |
| X | g.154969514C>G | CA414918317 | F8 | c.826G>C (p.Val276Leu) c.*702G>C (n.*702G>C) c.721G>C (p.Val241Leu) | |
| X | g.154969514C>T | CA414918315 | F8 | c.826G>A (p.Val276Met) c.*702G>A (n.*702G>A) c.721G>A (p.Val241Met) | |
| X | g.154969515A>C | CA414918320 | F8 | c.825T>G (p.His275Gln) c.*701T>G (n.*701T>G) c.720T>G (p.His240Gln) | |
| X | g.154969515A>G | CA519367698 | F8 | c.825T>C (p.His275=) c.*701T>C (n.*701T>C) c.720T>C (p.His240=) | |
| X | g.154969515A>T | CA414918321 | F8 | c.825T>A (p.His275Gln) c.*701T>A (n.*701T>A) c.720T>A (p.His240Gln) | |
| X | g.154969516T>A | CA414918323 | F8 | c.824A>T (p.His275Leu) c.*700A>T (n.*700A>T) c.719A>T (p.His240Leu) | |
| X | g.154969516T>C | CA414918325 | F8 | c.824A>G (p.His275Arg) c.*700A>G (n.*700A>G) c.719A>G (p.His240Arg) | dbSNP |
| X | g.154969516T>G | CA414918327 | F8 | c.824A>C (p.His275Pro) c.*700A>C (n.*700A>C) c.719A>C (p.His240Pro) | |
| X | g.154969516T= | CA2466849050 | F8 | c.824A= (p.His275=) c.*700A= (n.*700A=) c.719A= (p.His240=) | |
| X | g.154969517G>A | CA414918328 | F8 | c.823C>T (p.His275Tyr) c.*699C>T (n.*699C>T) c.718C>T (p.His240Tyr) | |
| X | g.154969517G>C | CA414918330 | F8 | c.823C>G (p.His275Asp) c.*699C>G (n.*699C>G) c.718C>G (p.His240Asp) | |
| X | g.154969517G>T | CA414918332 | F8 | c.823C>A (p.His275Asn) c.*699C>A (n.*699C>A) c.718C>A (p.His240Asn) | |
| X | g.154969518C>A | CA337337669 | F8 | c.822G>T (p.Trp274Cys) c.*698G>T (n.*698G>T) c.717G>T (p.Trp239Cys) | dbSNP |
| X | g.154969518C= | CA2466849051 | F8 | c.822G= (p.Trp274=) c.*698G= (n.*698G=) c.717G= (p.Trp239=) | |
| X | g.154969518C>G | CA414918336 | F8 | c.822G>C (p.Trp274Cys) c.*698G>C (n.*698G>C) c.717G>C (p.Trp239Cys) | |
| X | g.154969518C>T | CA255072 | F8 | c.822G>A (p.Trp274Ter) c.*698G>A (n.*698G>A) c.717G>A (p.Trp239Ter) | ClinVar dbSNP |
| X | g.154969519C>A | CA414918345 | F8 | c.821G>T (p.Trp274Leu) c.*697G>T (n.*697G>T) c.716G>T (p.Trp239Leu) | |
| X | g.154969519C= | CA2466849052 | F8 | c.821G= (p.Trp274=) c.*697G= (n.*697G=) c.716G= (p.Trp239=) | |
| X | g.154969519C>G | CA414918343 | F8 | c.821G>C (p.Trp274Ser) c.*697G>C (n.*697G>C) c.716G>C (p.Trp239Ser) | |
| X | g.154969519C>T | CA414918342 | F8 | c.821G>A (p.Trp274Ter) c.*697G>A (n.*697G>A) c.716G>A (p.Trp239Ter) | dbSNP |
| X | g.154969520A>C | CA414918348 | F8 | c.820T>G (p.Trp274Gly) c.*696T>G (n.*696T>G) c.715T>G (p.Trp239Gly) | |
| X | g.154969520A>G | CA414918349 | F8 | c.820T>C (p.Trp274Arg) c.*696T>C (n.*696T>C) c.715T>C (p.Trp239Arg) | |
| X | g.154969520A>T | CA414918351 | F8 | c.820T>A (p.Trp274Arg) c.*696T>A (n.*696T>A) c.715T>A (p.Trp239Arg) |