Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.3256343_3256363dup | CA2202665854 | MEFV | c.229_249dup (p.Ala83_Glu84insIleAsnGlnArgLeuLeuAla) n.418_438dup | dbSNP |
16 | g.3256361_3256363delinsGCC | CA2202665872 | MEFV | c.225_227delinsGGC (p.Arg75=) n.414_416delinsGGC | |
16 | g.3256364dup | CA2631356924 | MEFV | c.226dup (p.Ala76GlyfsTer28) c.226dup (p.Ala76GlyfsTer?) c.226dup (p.Ala76GlyfsTer24) n.415dup | gnomAD v4 |
16 | g.3256363_3256364del | CA919641893 | MEFV | c.225_226del (p.Ala76HisfsTer27) c.225_226del (p.Ala76HisfsTer?) c.225_226del (p.Ala76HisfsTer23) n.414_415del | dbSNP |
16 | g.3256363C>A | CA493384427 | MEFV | c.225G>T (p.Arg75=) n.414G>T | |
16 | g.3256363C= | CA2202665873 | MEFV | c.225G= (p.Arg75=) n.414G= | |
16 | g.3256363C>G | CA493384428 | MEFV | c.225G>C (p.Arg75=) n.414G>C | |
16 | g.3256363C>T | CA493384430 | MEFV | c.225G>A (p.Arg75=) n.414G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3256364C>A | CA394483644 | MEFV | c.224G>T (p.Arg75Leu) n.413G>T | dbSNP |
16 | g.3256364C= | CA2202665874 | MEFV | c.224G= (p.Arg75=) n.413G= | |
16 | g.3256364C>G | CA394483647 | MEFV | c.224G>C (p.Arg75Pro) n.413G>C | |
16 | g.3256364C>T | CA7860505 | MEFV | c.224G>A (p.Arg75Gln) n.413G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3256365del | CA2631356936 | MEFV | c.223del (p.Arg75GlyfsTer?) n.412del | gnomAD v4 |
16 | g.3256365G>A | CA276904353 | MEFV | c.223C>T (p.Arg75Trp) n.412C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3256365G>C | CA394483651 | MEFV | c.223C>G (p.Arg75Gly) n.412C>G | gnomAD v4 |
16 | g.3256365G= | CA2202665875 | MEFV | c.223C= (p.Arg75=) n.412C= | |
16 | g.3256365G>T | CA493384431 | MEFV | c.223C>A (p.Arg75=) n.412C>A | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
16 | g.3256366C>A | CA493384433 | MEFV | c.222G>T (p.Leu74=) n.411G>T | |
16 | g.3256366C= | CA2202665876 | MEFV | c.222G= (p.Leu74=) n.411G= | |
16 | g.3256366C>G | CA493384434 | MEFV | c.222G>C (p.Leu74=) n.411G>C | |
16 | g.3256366C>T | CA7860506 | MEFV | c.222G>A (p.Leu74=) n.411G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3256366_3256367delinsCA | CA2202665877 | MEFV | c.221_222delinsTG (p.Leu74=) n.410_411delinsTG | |
16 | g.3256367del | CA919641894 | MEFV | c.221del (p.Leu74ArgfsTer?) n.410del | dbSNP |
16 | g.3256367A>C | CA394483654 | MEFV | c.221T>G (p.Leu74Arg) n.410T>G | |
16 | g.3256367A>G | CA394483657 | MEFV | c.221T>C (p.Leu74Pro) n.410T>C | gnomAD v4 |
16 | g.3256367A>T | CA394483659 | MEFV | c.221T>A (p.Leu74Gln) n.410T>A | |
16 | g.3256368G>A | CA493384437 | MEFV | c.220C>T (p.Leu74=) n.409C>T | |
16 | g.3256368G>C | CA394483661 | MEFV | c.220C>G (p.Leu74Val) n.409C>G | |
16 | g.3256368G>T | CA394483664 | MEFV | c.220C>A (p.Leu74Met) n.409C>A | |
16 | g.3256369G>A | CA493384438 | MEFV | c.219C>T (p.Val73=) n.408C>T | |
16 | g.3256369G>C | CA493384439 | MEFV | c.219C>G (p.Val73=) n.408C>G | |
16 | g.3256369G>T | CA493384440 | MEFV | c.219C>A (p.Val73=) n.408C>A | |
16 | g.3256370A>C | CA394483667 | MEFV | c.218T>G (p.Val73Gly) n.407T>G | |
16 | g.3256370A>G | CA394483670 | MEFV | c.218T>C (p.Val73Ala) n.407T>C | |
16 | g.3256370A>T | CA394483673 | MEFV | c.218T>A (p.Val73Asp) n.407T>A | |
16 | g.3256371C>A | CA394483676 | MEFV | c.217G>T (p.Val73Phe) n.406G>T | |
16 | g.3256371C>G | CA394483678 | MEFV | c.217G>C (p.Val73Leu) n.406G>C | gnomAD v4 |
16 | g.3256371C>T | CA394483682 | MEFV | c.217G>A (p.Val73Ile) n.406G>A | ClinVar dbSNP |
16 | g.3256372C>A | CA394483688 | MEFV | c.216G>T (p.Gln72His) n.405G>T | |
16 | g.3256372C>G | CA394483685 | MEFV | c.216G>C (p.Gln72His) n.405G>C | |
16 | g.3256372C>T | CA493384444 | MEFV | c.216G>A (p.Gln72=) n.405G>A | |
16 | g.3256373T>A | CA394483693 | MEFV | c.215A>T (p.Gln72Leu) n.404A>T | |
16 | g.3256373T>C | CA394483694 | MEFV | c.215A>G (p.Gln72Arg) n.404A>G | |
16 | g.3256373T>G | CA394483697 | MEFV | c.215A>C (p.Gln72Pro) n.404A>C | |
16 | g.3256374G>A | CA394483698 | MEFV | c.214C>T (p.Gln72Ter) n.403C>T | ClinVar dbSNP |
16 | g.3256374G>C | CA394483699 | MEFV | c.214C>G (p.Gln72Glu) n.403C>G | |
16 | g.3256374G= | CA2202665878 | MEFV | c.214C= (p.Gln72=) n.403C= | |
16 | g.3256374G>T | CA394483700 | MEFV | c.214C>A (p.Gln72Lys) n.403C>A | |
16 | g.3256375_3256393del | CA2575889922 | MEFV | c.196_214del (p.Ala66ArgfsTer?) n.385_403del | gnomAD v4 |
16 | g.3256374_3256375insAGCC | CA919641897 | MEFV | c.213_214insGGCT (p.Gln72GlyfsTer?) c.213_214insGGCT (p.Gln72GlyfsTer29) n.402_403insGGCT | dbSNP |
16 | g.3256375C>A | CA493384446 | MEFV | c.213G>T (p.Leu71=) n.402G>T | |
16 | g.3256375C>G | CA493384447 | MEFV | c.213G>C (p.Leu71=) n.402G>C | |
16 | g.3256375C>T | CA493384449 | MEFV | c.213G>A (p.Leu71=) n.402G>A | ClinVar dbSNP gnomAD v4 |
16 | g.3256376A>C | CA394483705 | MEFV | c.212T>G (p.Leu71Arg) n.401T>G | |
16 | g.3256376A>G | CA394483702 | MEFV | c.212T>C (p.Leu71Pro) n.401T>C | gnomAD v4 |
16 | g.3256376A>T | CA394483703 | MEFV | c.212T>A (p.Leu71Gln) n.401T>A | |
16 | g.3256376_3256386delinsAGGGTGAGCTG | CA2202665879 | MEFV | c.202_212delinsCAGCTCACCCT (p.Gln68=) n.391_401delinsCAGCTCACCCT | |
16 | g.3256377G>A | CA493384452 | MEFV | c.211C>T (p.Leu71=) n.400C>T | ClinVar |
16 | g.3256377G>C | CA394483708 | MEFV | c.211C>G (p.Leu71Val) n.400C>G | |
16 | g.3256377G>T | CA394483711 | MEFV | c.211C>A (p.Leu71Met) n.400C>A | |
16 | g.3256377_3256386del | CA919641898 | MEFV | c.202_211del (p.Gln68CysfsTer?) n.391_400del | dbSNP |
16 | g.3256378G>A | CA493384453 | MEFV | c.210C>T (p.Thr70=) n.399C>T | gnomAD v4 |
16 | g.3256378G>C | CA493384456 | MEFV | c.210C>G (p.Thr70=) n.399C>G | |
16 | g.3256378G>T | CA493384454 | MEFV | c.210C>A (p.Thr70=) n.399C>A | ClinVar |
16 | g.3256379G>A | CA7860507 | MEFV | c.209C>T (p.Thr70Ile) n.398C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
16 | g.3256379G>C | CA394483717 | MEFV | c.209C>G (p.Thr70Ser) n.398C>G | ClinVar dbSNP |
16 | g.3256379G= | CA2202665880 | MEFV | c.209C= (p.Thr70=) n.398C= | |
16 | g.3256379G>T | CA394483719 | MEFV | c.209C>A (p.Thr70Asn) n.398C>A | |
16 | g.3256380T>A | CA394483723 | MEFV | c.208A>T (p.Thr70Ser) n.397A>T | |
16 | g.3256380T>C | CA394483728 | MEFV | c.208A>G (p.Thr70Ala) n.397A>G | |
16 | g.3256380T>G | CA394483725 | MEFV | c.208A>C (p.Thr70Pro) n.397A>C | dbSNP |
16 | g.3256380T= | CA2202665881 | MEFV | c.208A= (p.Thr70=) n.397A= | |
16 | g.3256381G>A | CA7860508 | MEFV | c.207C>T (p.Leu69=) n.396C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3256381G>C | CA493384461 | MEFV | c.207C>G (p.Leu69=) n.396C>G | |
16 | g.3256381G= | CA2202665882 | MEFV | c.207C= (p.Leu69=) n.396C= | |
16 | g.3256381G>T | CA493384460 | MEFV | c.207C>A (p.Leu69=) n.396C>A | |
16 | g.3256382A>C | CA394483732 | MEFV | c.206T>G (p.Leu69Arg) n.395T>G | |
16 | g.3256382A>G | CA394483735 | MEFV | c.206T>C (p.Leu69Pro) n.395T>C | |
16 | g.3256382A>T | CA394483737 | MEFV | c.206T>A (p.Leu69His) n.395T>A | |
16 | g.3256383G>A | CA394483741 | MEFV | c.205C>T (p.Leu69Phe) n.394C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3256383G>C | CA394483743 | MEFV | c.205C>G (p.Leu69Val) n.394C>G | |
16 | g.3256383G= | CA2202665883 | MEFV | c.205C= (p.Leu69=) n.394C= | |
16 | g.3256383G>T | CA394483745 | MEFV | c.205C>A (p.Leu69Ile) n.394C>A | |
16 | g.3256384C>A | CA394483747 | MEFV | c.204G>T (p.Gln68His) n.393G>T | |
16 | g.3256384C= | CA2202665884 | MEFV | c.204G= (p.Gln68=) n.393G= | |
16 | g.3256384C>G | CA394483749 | MEFV | c.204G>C (p.Gln68His) n.393G>C | |
16 | g.3256384C>T | CA276904366 | MEFV | c.204G>A (p.Gln68=) n.393G>A | ClinVar dbSNP gnomAD v4 |
16 | g.3256385T>A | CA394483752 | MEFV | c.203A>T (p.Gln68Leu) n.392A>T | |
16 | g.3256385T>C | CA394483755 | MEFV | c.203A>G (p.Gln68Arg) n.392A>G | |
16 | g.3256385T>G | CA394483758 | MEFV | c.203A>C (p.Gln68Pro) n.392A>C | gnomAD v4 |
16 | g.3256386G>A | CA7860509 | MEFV | c.202C>T (p.Gln68Ter) n.391C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
16 | g.3256386G>C | CA394483760 | MEFV | c.202C>G (p.Gln68Glu) n.391C>G | |
16 | g.3256386G= | CA2202665885 | MEFV | c.202C= (p.Gln68=) n.391C= | |
16 | g.3256386G>T | CA394483762 | MEFV | c.202C>A (p.Gln68Lys) n.391C>A | gnomAD v4 |
16 | g.3256386_3256387delinsAA | CA2202665887 | MEFV | c.201_202delinsTT (p.Val68Ter) n.390_391delinsTT | ClinVar dbSNP |
16 | g.3256386_3256387delinsGC | CA2202665886 | MEFV | c.201_202delinsGC (p.Val67=) n.390_391delinsGC | |
16 | g.3256387C>A | CA7860510 | MEFV | c.201G>T (p.Val67=) n.390G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3256387C= | CA2202665888 | MEFV | c.201G= (p.Val67=) n.390G= | |
16 | g.3256387C>G | CA493384464 | MEFV | c.201G>C (p.Val67=) n.390G>C | |
16 | g.3256387C>T | CA493384465 | MEFV | c.201G>A (p.Val67=) n.390G>A | gnomAD v4 |
16 | g.3256388A>C | CA394483770 | MEFV | c.200T>G (p.Val67Gly) n.389T>G | |
16 | g.3256388A>G | CA394483771 | MEFV | c.200T>C (p.Val67Ala) n.389T>C | |
16 | g.3256388A>T | CA394483773 | MEFV | c.200T>A (p.Val67Glu) n.389T>A | |
16 | g.3256389C>A | CA394483778 | MEFV | c.199G>T (p.Val67Leu) n.388G>T | |
16 | g.3256389C= | CA2202665889 | MEFV | c.199G= (p.Val67=) n.388G= | |
16 | g.3256389C>G | CA394483779 | MEFV | c.199G>C (p.Val67Leu) n.388G>C | |
16 | g.3256389C>T | CA394483782 | MEFV | c.199G>A (p.Val67Met) n.388G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.3256390G>A | CA7860511 | MEFV | c.198C>T (p.Ala66=) n.387C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3256390G>C | CA493384466 | MEFV | c.198C>G (p.Ala66=) n.387C>G | dbSNP |
16 | g.3256390G= | CA2202665890 | MEFV | c.198C= (p.Ala66=) n.387C= | |
16 | g.3256390G>T | CA493384468 | MEFV | c.198C>A (p.Ala66=) n.387C>A | |
16 | g.3256390_3256391insATCAAT | CA919641899 | MEFV | c.197_198insATTGAT (p.Ala66_Val67insLeuIle) n.386_387insATTGAT | dbSNP |
16 | g.3256391G>A | CA276904401 | MEFV | c.197C>T (p.Ala66Val) n.386C>T | dbSNP |
16 | g.3256391G>C | CA394483789 | MEFV | c.197C>G (p.Ala66Gly) n.386C>G | |
16 | g.3256391G= | CA2202665891 | MEFV | c.197C= (p.Ala66=) n.386C= | |
16 | g.3256391G>T | CA394483792 | MEFV | c.197C>A (p.Ala66Asp) n.386C>A | |
16 | g.3256391_3256392delinsGC | CA2202665892 | MEFV | c.196_197delinsGC (p.Ala66=) n.385_386delinsGC | |
16 | g.3256392del | CA919641900 | MEFV | c.196del (p.Ala66ProfsTer?) n.385del | dbSNP |
16 | g.3256392C>A | CA394483795 | MEFV | c.196G>T (p.Ala66Ser) n.385G>T | |
16 | g.3256392C= | CA2202665893 | MEFV | c.196G= (p.Ala66=) n.385G= | |
16 | g.3256392C>G | CA394483796 | MEFV | c.196G>C (p.Ala66Pro) n.385G>C | dbSNP |
16 | g.3256392C>T | CA7860512 | MEFV | c.196G>A (p.Ala66Thr) n.385G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3256393G>A | CA280475 | MEFV | c.195C>T (p.Tyr65=) n.384C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3256393G>C | CA394483800 | MEFV | c.195C>G (p.Tyr65Ter) n.384C>G | |
16 | g.3256393G= | CA2202665894 | MEFV | c.195C= (p.Tyr65=) n.384C= | |
16 | g.3256393G>T | CA394483799 | MEFV | c.195C>A (p.Tyr65Ter) n.384C>A | |
16 | g.3256394T>A | CA394483804 | MEFV | c.194A>T (p.Tyr65Phe) n.383A>T | |
16 | g.3256394T>C | CA394483809 | MEFV | c.194A>G (p.Tyr65Cys) n.383A>G | |
16 | g.3256394T>G | CA394483806 | MEFV | c.194A>C (p.Tyr65Ser) n.383A>C | |
16 | g.3256394_3256396delinsTAC | CA2202665895 | MEFV | c.192_194delinsGTA (p.Glu64=) n.381_383delinsGTA | |
16 | g.3256395A>C | CA394483813 | MEFV | c.193T>G (p.Tyr65Asp) n.382T>G | |
16 | g.3256395A>G | CA394483817 | MEFV | c.193T>C (p.Tyr65His) n.382T>C | |
16 | g.3256395A>T | CA394483818 | MEFV | c.193T>A (p.Tyr65Asn) n.382T>A | |
16 | g.3256395_3256396del | CA919641901 | MEFV | c.192_193del (p.Tyr65ArgfsTer?) n.381_382del | dbSNP |
16 | g.3256396C>A | CA394483822 | MEFV | c.192G>T (p.Glu64Asp) n.381G>T | |
16 | g.3256396C= | CA2202665896 | MEFV | c.192G= (p.Glu64=) n.381G= | |
16 | g.3256396C>G | CA394483823 | MEFV | c.192G>C (p.Glu64Asp) n.381G>C | |
16 | g.3256396C>T | CA7860513 | MEFV | c.192G>A (p.Glu64=) n.381G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3256397T>A | CA394483826 | MEFV | c.191A>T (p.Glu64Val) n.380A>T | dbSNP |
16 | g.3256397T>C | CA394483828 | MEFV | c.191A>G (p.Glu64Gly) n.380A>G | |
16 | g.3256397T>G | CA394483829 | MEFV | c.191A>C (p.Glu64Ala) n.380A>C | |
16 | g.3256397T= | CA2202665897 | MEFV | c.191A= (p.Glu64=) n.380A= | |
16 | g.3256398C>A | CA394483834 | MEFV | c.190G>T (p.Glu64Ter) n.379G>T | COSMIC COSMIC |
16 | g.3256398C>G | CA394483836 | MEFV | c.190G>C (p.Glu64Gln) n.379G>C | |
16 | g.3256398C>T | CA394483838 | MEFV | c.190G>A (p.Glu64Lys) n.379G>A | |
16 | g.3256399T>A | CA394483843 | MEFV | c.189A>T (p.Glu63Asp) n.378A>T | |
16 | g.3256399T>C | CA493384474 | MEFV | c.189A>G (p.Glu63=) n.378A>G | |
16 | g.3256399T>G | CA394483849 | MEFV | c.189A>C (p.Glu63Asp) n.378A>C | |
16 | g.3256400T>A | CA394483851 | MEFV | c.188A>T (p.Glu63Val) n.377A>T | |
16 | g.3256400T>C | CA394483853 | MEFV | c.188A>G (p.Glu63Gly) n.377A>G | |
16 | g.3256400T>G | CA394483854 | MEFV | c.188A>C (p.Glu63Ala) n.377A>C | |
16 | g.3256401C>A | CA394483857 | MEFV | c.187G>T (p.Glu63Ter) n.376G>T | COSMIC COSMIC |
16 | g.3256401C= | CA2202665898 | MEFV | c.187G= (p.Glu63=) n.376G= | |
16 | g.3256401C>G | CA394483859 | MEFV | c.187G>C (p.Glu63Gln) n.376G>C | |
16 | g.3256401C>T | CA394483861 | MEFV | c.187G>A (p.Glu63Lys) n.376G>A | dbSNP |
16 | g.3256402C>A | CA493384475 | MEFV | c.186G>T (p.Gly62=) n.375G>T | |
16 | g.3256402C= | CA2202665899 | MEFV | c.186G= (p.Gly62=) n.375G= | |
16 | g.3256402C>G | CA493384476 | MEFV | c.186G>C (p.Gly62=) n.375G>C | |
16 | g.3256402C>T | CA7860514 | MEFV | c.186G>A (p.Gly62=) n.375G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3256402_3256403insA | CA919641902 | MEFV | c.185_186insT (p.Glu63GlyfsTer?) n.374_375insT | dbSNP |
16 | g.3256403C>A | CA394483867 | MEFV | c.185G>T (p.Gly62Val) n.374G>T | |
16 | g.3256403C>G | CA394483877 | MEFV | c.185G>C (p.Gly62Ala) n.374G>C | |
16 | g.3256403C>T | CA394483879 | MEFV | c.185G>A (p.Gly62Glu) n.374G>A | |
16 | g.3256404C>A | CA394483888 | MEFV | c.184G>T (p.Gly62Trp) n.373G>T | gnomAD v4 |
16 | g.3256404C= | CA2202665900 | MEFV | c.184G= (p.Gly62=) n.373G= | |
16 | g.3256404C>G | CA394483887 | MEFV | c.184G>C (p.Gly62Arg) n.373G>C | |
16 | g.3256404C>T | CA394483884 | MEFV | c.184G>A (p.Gly62Arg) n.373G>A | dbSNP |
16 | g.3256405A= | CA2202665901 | MEFV | c.183T= (p.Tyr61=) n.372T= | |
16 | g.3256405A>C | CA394483892 | MEFV | c.183T>G (p.Tyr61Ter) n.372T>G | |
16 | g.3256405A>G | CA7860515 | MEFV | c.183T>C (p.Tyr61=) n.372T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3256405A>T | CA394483895 | MEFV | c.183T>A (p.Tyr61Ter) n.372T>A | |
16 | g.3256406T>A | CA394483898 | MEFV | c.182A>T (p.Tyr61Phe) n.371A>T | COSMIC COSMIC |
16 | g.3256406T>C | CA276904447 | MEFV | c.182A>G (p.Tyr61Cys) n.371A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3256406T>G | CA7860516 | MEFV | c.182A>C (p.Tyr61Ser) n.371A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3256406T= | CA2202665902 | MEFV | c.182A= (p.Tyr61=) n.371A= | |
16 | g.3256407A= | CA2202665903 | MEFV | c.181T= (p.Tyr61=) n.370T= | |
16 | g.3256407A>C | CA394483905 | MEFV | c.181T>G (p.Tyr61Asp) n.370T>G | |
16 | g.3256407A>G | CA7860517 | MEFV | c.181T>C (p.Tyr61His) n.370T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3256407A>T | CA394483908 | MEFV | c.181T>A (p.Tyr61Asn) n.370T>A | ClinVar dbSNP |
16 | g.3256408G>A | CA493384483 | MEFV | c.180C>T (p.Tyr60=) n.369C>T | ClinVar dbSNP gnomAD v4 |
16 | g.3256408G>C | CA394483911 | MEFV | c.180C>G (p.Tyr60Ter) n.369C>G | |
16 | g.3256408G= | CA2202665904 | MEFV | c.180C= (p.Tyr60=) n.369C= | |
16 | g.3256408G>T | CA7860518 | MEFV | c.180C>A (p.Tyr60Ter) n.369C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3256409T>A | CA394483923 | MEFV | c.179A>T (p.Tyr60Phe) n.368A>T | |
16 | g.3256409T>C | CA394483918 | MEFV | c.179A>G (p.Tyr60Cys) n.368A>G | gnomAD v4 |
16 | g.3256409T>G | CA394483916 | MEFV | c.179A>C (p.Tyr60Ser) n.368A>C | |
16 | g.3256410A= | CA2202665905 | MEFV | c.178T= (p.Tyr60=) n.367T= | |
16 | g.3256410A>C | CA394483928 | MEFV | c.178T>G (p.Tyr60Asp) n.367T>G | |
16 | g.3256410A>G | CA7860520 | MEFV | c.178T>C (p.Tyr60His) n.367T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3256410A>T | CA7860519 | MEFV | c.178T>A (p.Tyr60Asn) n.367T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3256411G>A | CA493384486 | MEFV | c.177C>T (p.Thr59=) n.366C>T | |
16 | g.3256411G>C | CA493384487 | MEFV | c.177C>G (p.Thr59=) n.366C>G | gnomAD v4 |
16 | g.3256411G>T | CA493384488 | MEFV | c.177C>A (p.Thr59=) n.366C>A | gnomAD v4 |
16 | g.3256412G>A | CA394483942 | MEFV | c.176C>T (p.Thr59Ile) n.365C>T | |
16 | g.3256412G>C | CA394483953 | MEFV | c.176C>G (p.Thr59Ser) n.365C>G | ClinVar dbSNP |
16 | g.3256412G= | CA2202665906 | MEFV | c.176C= (p.Thr59=) n.365C= | |
16 | g.3256412G>T | CA394483955 | MEFV | c.176C>A (p.Thr59Asn) n.365C>A | |
16 | g.3256413T>A | CA394483958 | MEFV | c.175A>T (p.Thr59Ser) n.364A>T | |
16 | g.3256413T>C | CA394483960 | MEFV | c.175A>G (p.Thr59Ala) n.364A>G | |
16 | g.3256413T>G | CA394483962 | MEFV | c.175A>C (p.Thr59Pro) n.364A>C | |
16 | g.3256414G>A | CA493384493 | MEFV | c.174C>T (p.Val58=) n.363C>T | |
16 | g.3256414G>C | CA493384491 | MEFV | c.174C>G (p.Val58=) n.363C>G | |
16 | g.3256414G= | CA2202665907 | MEFV | c.174C= (p.Val58=) n.363C= | |
16 | g.3256414G>T | CA493384492 | MEFV | c.174C>A (p.Val58=) n.363C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.3256415A>C | CA394483966 | MEFV | c.173T>G (p.Val58Gly) n.362T>G | |
16 | g.3256415A>G | CA394483969 | MEFV | c.173T>C (p.Val58Ala) n.362T>C | |
16 | g.3256415A>T | CA394483971 | MEFV | c.173T>A (p.Val58Asp) n.362T>A | |
16 | g.3256416C>A | CA7860521 | MEFV | c.172G>T (p.Val58Phe) n.361G>T | dbSNP ExAC gnomAD v2 |
16 | g.3256416C= | CA2202665908 | MEFV | c.172G= (p.Val58=) n.361G= | |
16 | g.3256416C>G | CA394483976 | MEFV | c.172G>C (p.Val58Leu) n.361G>C | |
16 | g.3256416C>T | CA394483974 | MEFV | c.172G>A (p.Val58Ile) n.361G>A | |
16 | g.3256417C>A | CA493384494 | MEFV | c.171G>T (p.Leu57=) n.360G>T | |
16 | g.3256417C>G | CA493384496 | MEFV | c.171G>C (p.Leu57=) n.360G>C | |
16 | g.3256417C>T | CA493384498 | MEFV | c.171G>A (p.Leu57=) n.360G>A | |
16 | g.3256418A= | CA2202665909 | MEFV | c.170T= (p.Leu57=) n.359T= | |
16 | g.3256418A>C | CA394483982 | MEFV | c.170T>G (p.Leu57Arg) n.359T>G | dbSNP gnomAD v4 |
16 | g.3256418A>G | CA394483987 | MEFV | c.170T>C (p.Leu57Pro) n.359T>C | |
16 | g.3256418A>T | CA394483984 | MEFV | c.170T>A (p.Leu57Gln) n.359T>A | |
16 | g.3256419G>A | CA493384500 | MEFV | c.169C>T (p.Leu57=) n.358C>T | dbSNP |
16 | g.3256419G>C | CA394483990 | MEFV | c.169C>G (p.Leu57Val) n.358C>G | |
16 | g.3256419G= | CA2202665910 | MEFV | c.169C= (p.Leu57=) n.358C= | |
16 | g.3256419G>T | CA394483992 | MEFV | c.169C>A (p.Leu57Met) n.358C>A | |
16 | g.3256420C>A | CA493384501 | MEFV | c.168G>T (p.Leu56=) n.357G>T | |
16 | g.3256420C= | CA2202665911 | MEFV | c.168G= (p.Leu56=) n.357G= | |
16 | g.3256420C>G | CA493384503 | MEFV | c.168G>C (p.Leu56=) n.357G>C | |
16 | g.3256420C>T | CA493384502 | MEFV | c.168G>A (p.Leu56=) n.357G>A | dbSNP |
16 | g.3256421A>C | CA394483996 | MEFV | c.167T>G (p.Leu56Arg) n.356T>G | |
16 | g.3256421A>G | CA394484002 | MEFV | c.167T>C (p.Leu56Pro) n.356T>C | |
16 | g.3256421A>T | CA394484005 | MEFV | c.167T>A (p.Leu56Gln) n.356T>A | |
16 | g.3256422G>A | CA493384506 | MEFV | c.166C>T (p.Leu56=) n.355C>T | ClinVar |
16 | g.3256422G>C | CA394484009 | MEFV | c.166C>G (p.Leu56Val) n.355C>G | dbSNP gnomAD v4 |
16 | g.3256422G= | CA2202665912 | MEFV | c.166C= (p.Leu56=) n.355C= | |
16 | g.3256422G>T | CA394484018 | MEFV | c.166C>A (p.Leu56Met) n.355C>A | |
16 | g.3256423A>C | CA493384507 | MEFV | c.165T>G (p.Thr55=) n.354T>G | |
16 | g.3256423A>G | CA493384508 | MEFV | c.165T>C (p.Thr55=) n.354T>C | |
16 | g.3256423A>T | CA493384509 | MEFV | c.165T>A (p.Thr55=) n.354T>A | |
16 | g.3256424G>A | CA7860523 | MEFV | c.164C>T (p.Thr55Ile) n.353C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3256424G>C | CA394484030 | MEFV | c.164C>G (p.Thr55Ser) n.353C>G | |
16 | g.3256424G= | CA2202665913 | MEFV | c.164C= (p.Thr55=) n.353C= | |
16 | g.3256424G>T | CA7860522 | MEFV | c.164C>A (p.Thr55Asn) n.353C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3256425T>A | CA394484054 | MEFV | c.163A>T (p.Thr55Ser) n.352A>T | |
16 | g.3256425T>C | CA394484059 | MEFV | c.163A>G (p.Thr55Ala) n.352A>G | ClinVar gnomAD v4 |
16 | g.3256425T>G | CA394484063 | MEFV | c.163A>C (p.Thr55Pro) n.352A>C | gnomAD v4 |
16 | g.3256426G>A | CA493384511 | MEFV | c.162C>T (p.Ala54=) n.351C>T | ClinVar dbSNP gnomAD v4 |
16 | g.3256426G>C | CA493384513 | MEFV | c.162C>G (p.Ala54=) n.351C>G | |
16 | g.3256426G>T | CA493384512 | MEFV | c.162C>A (p.Ala54=) n.351C>A | |
16 | g.3256427G>A | CA394484068 | MEFV | c.161C>T (p.Ala54Val) n.350C>T | |
16 | g.3256427G>C | CA394484073 | MEFV | c.161C>G (p.Ala54Gly) n.350C>G | dbSNP |
16 | g.3256427G= | CA2202665914 | MEFV | c.161C= (p.Ala54=) n.350C= | |
16 | g.3256427G>T | CA394484071 | MEFV | c.161C>A (p.Ala54Asp) n.350C>A | |
16 | g.3256428C>A | CA394484074 | MEFV | c.160G>T (p.Ala54Ser) n.349G>T | |
16 | g.3256428C>G | CA394484076 | MEFV | c.160G>C (p.Ala54Pro) n.349G>C | |
16 | g.3256428C>T | CA394484087 | MEFV | c.160G>A (p.Ala54Thr) n.349G>A | |
16 | g.3256429C>A | CA394484111 | MEFV | c.159G>T (p.Met53Ile) n.348G>T | |
16 | g.3256429C>G | CA394484126 | MEFV | c.159G>C (p.Met53Ile) n.348G>C | |
16 | g.3256429C>T | CA394484127 | MEFV | c.159G>A (p.Met53Ile) n.348G>A | gnomAD v4 |
16 | g.3256430A= | CA2202665915 | MEFV | c.158T= (p.Met53=) n.347T= | |
16 | g.3256430A>C | CA394484128 | MEFV | c.158T>G (p.Met53Arg) n.347T>G | |
16 | g.3256430A>G | CA394484129 | MEFV | c.158T>C (p.Met53Thr) n.347T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3256430A>T | CA394484132 | MEFV | c.158T>A (p.Met53Lys) n.347T>A | |
16 | g.3256431T>A | CA394484138 | MEFV | c.157A>T (p.Met53Leu) n.346A>T | |
16 | g.3256431T>C | CA394484136 | MEFV | c.157A>G (p.Met53Val) n.346A>G | |
16 | g.3256431T>G | CA394484135 | MEFV | c.157A>C (p.Met53Leu) n.346A>C | |
16 | g.3256432C>A | CA394484142 | MEFV | c.156G>T (p.Lys52Asn) n.345G>T | gnomAD v4 |
16 | g.3256432C= | CA2202665916 | MEFV | c.156G= (p.Lys52=) n.345G= | |
16 | g.3256432C>G | CA394484145 | MEFV | c.156G>C (p.Lys52Asn) n.345G>C | dbSNP gnomAD v2 |
16 | g.3256432C>T | CA493384515 | MEFV | c.156G>A (p.Lys52=) n.345G>A | |
16 | g.3256433T>A | CA394484148 | MEFV | c.155A>T (p.Lys52Met) n.344A>T | |
16 | g.3256433T>C | CA394484154 | MEFV | c.155A>G (p.Lys52Arg) n.344A>G | COSMIC COSMIC |
16 | g.3256433T>G | CA394484157 | MEFV | c.155A>C (p.Lys52Thr) n.344A>C | |
16 | g.3256434T>A | CA394484162 | MEFV | c.154A>T (p.Lys52Ter) n.343A>T | |
16 | g.3256434T>C | CA394484181 | MEFV | c.154A>G (p.Lys52Glu) n.343A>G | |
16 | g.3256434T>G | CA394484190 | MEFV | c.154A>C (p.Lys52Gln) n.343A>C | |
16 | g.3256435C>A | CA493384522 | MEFV | c.153G>T (p.Val51=) n.342G>T | ClinVar |
16 | g.3256435C= | CA2202665917 | MEFV | c.153G= (p.Val51=) n.342G= | |
16 | g.3256435C>G | CA493384520 | MEFV | c.153G>C (p.Val51=) n.342G>C | |
16 | g.3256435C>T | CA493384521 | MEFV | c.153G>A (p.Val51=) n.342G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3256436A>C | CA394484194 | MEFV | c.152T>G (p.Val51Gly) n.341T>G | gnomAD v4 |
16 | g.3256436A>G | CA394484197 | MEFV | c.152T>C (p.Val51Ala) n.341T>C | gnomAD v4 |
16 | g.3256436A>T | CA394484203 | MEFV | c.152T>A (p.Val51Glu) n.341T>A | |
16 | g.3256437C>A | CA394484208 | MEFV | c.151G>T (p.Val51Leu) n.340G>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3256437C= | CA2202665918 | MEFV | c.151G= (p.Val51=) n.340G= | |
16 | g.3256437C>G | CA394484225 | MEFV | c.151G>C (p.Val51Leu) n.340G>C | |
16 | g.3256437C>T | CA394484228 | MEFV | c.151G>A (p.Val51Met) n.340G>A | |
16 | g.3256438C>A | CA493384526 | MEFV | c.150G>T (p.Pro50=) n.339G>T | |
16 | g.3256438C= | CA2202665919 | MEFV | c.150G= (p.Pro50=) n.339G= | |
16 | g.3256438C>G | CA493384527 | MEFV | c.150G>C (p.Pro50=) n.339G>C | |
16 | g.3256438C>T | CA7860524 | MEFV | c.150G>A (p.Pro50=) n.339G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3256439G>A | CA7860525 | MEFV | c.149C>T (p.Pro50Leu) n.338C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3256439G>C | CA394484235 | MEFV | c.149C>G (p.Pro50Arg) n.338C>G | |
16 | g.3256439G= | CA2202665920 | MEFV | c.149C= (p.Pro50=) n.338C= | |
16 | g.3256439G>T | CA394484237 | MEFV | c.149C>A (p.Pro50Gln) n.338C>A | dbSNP |
16 | g.3256440G>A | CA394484248 | MEFV | c.148C>T (p.Pro50Ser) n.337C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3256440G>C | CA394484252 | MEFV | c.148C>G (p.Pro50Ala) n.337C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.3256440G= | CA2202665921 | MEFV | c.148C= (p.Pro50=) n.337C= | |
16 | g.3256440G>T | CA394484253 | MEFV | c.148C>A (p.Pro50Thr) n.337C>A | dbSNP |
16 | g.3256441C>A | CA394484260 | MEFV | c.147G>T (p.Arg49Ser) n.336G>T | |
16 | g.3256441C>G | CA394484266 | MEFV | c.147G>C (p.Arg49Ser) n.336G>C | |
16 | g.3256441C>T | CA493384530 | MEFV | c.147G>A (p.Arg49=) n.336G>A | |
16 | g.3256442C>A | CA394484274 | MEFV | c.146G>T (p.Arg49Met) n.335G>T | |
16 | g.3256442C>G | CA394484281 | MEFV | c.146G>C (p.Arg49Thr) n.335G>C | |
16 | g.3256442C>T | CA394484284 | MEFV | c.146G>A (p.Arg49Lys) n.335G>A | gnomAD v4 |
16 | g.3256443T>A | CA394484303 | MEFV | c.145A>T (p.Arg49Trp) n.334A>T | |
16 | g.3256443T>C | CA394484306 | MEFV | c.145A>G (p.Arg49Gly) n.334A>G | |
16 | g.3256443T>G | CA493384534 | MEFV | c.145A>C (p.Arg49=) n.334A>C | ClinVar |
16 | g.3256444G>A | CA493384591 | MEFV | c.144C>T (p.Ala48=) n.333C>T | |
16 | g.3256444G>C | CA493384592 | MEFV | c.144C>G (p.Ala48=) n.333C>G | |
16 | g.3256444G= | CA2202665922 | MEFV | c.144C= (p.Ala48=) n.333C= | |
16 | g.3256444G>T | CA493384593 | MEFV | c.144C>A (p.Ala48=) n.333C>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3256445G>A | CA394484320 | MEFV | c.143C>T (p.Ala48Val) n.332C>T | |
16 | g.3256445G>C | CA394484321 | MEFV | c.143C>G (p.Ala48Gly) n.332C>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3256445G= | CA2202665923 | MEFV | c.143C= (p.Ala48=) n.332C= | |
16 | g.3256445G>T | CA394484312 | MEFV | c.143C>A (p.Ala48Asp) n.332C>A | |
16 | g.3256446C>A | CA394484327 | MEFV | c.142G>T (p.Ala48Ser) n.331G>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3256446C= | CA2202665924 | MEFV | c.142G= (p.Ala48=) n.331G= | |
16 | g.3256446C>G | CA394484326 | MEFV | c.142G>C (p.Ala48Pro) n.331G>C | |
16 | g.3256446C>T | CA394484329 | MEFV | c.142G>A (p.Ala48Thr) n.331G>A | |
16 | g.3256447T>A | CA394484331 | MEFV | c.141A>T (p.Arg47Ser) n.330A>T | |
16 | g.3256447T>C | CA493384596 | MEFV | c.141A>G (p.Arg47=) n.330A>G | |
16 | g.3256447T>G | CA394484334 | MEFV | c.141A>C (p.Arg47Ser) n.330A>C | |
16 | g.3256448C>A | CA394484335 | MEFV | c.140G>T (p.Arg47Ile) n.329G>T | dbSNP gnomAD v4 |
16 | g.3256448C= | CA2202665925 | MEFV | c.140G= (p.Arg47=) n.329G= | |
16 | g.3256448C>G | CA394484336 | MEFV | c.140G>C (p.Arg47Thr) n.329G>C | |
16 | g.3256448C>T | CA7860526 | MEFV | c.140G>A (p.Arg47Lys) n.329G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3256449T>A | CA394484352 | MEFV | c.139A>T (p.Arg47Ter) n.328A>T | |
16 | g.3256449T>C | CA394484367 | MEFV | c.139A>G (p.Arg47Gly) n.328A>G | |
16 | g.3256449T>G | CA493384597 | MEFV | c.139A>C (p.Arg47=) n.328A>C | |
16 | g.3256450C>A | CA394484371 | MEFV | c.138G>T (p.Gln46His) n.327G>T | |
16 | g.3256450C>G | CA394484372 | MEFV | c.138G>C (p.Gln46His) n.327G>C | |
16 | g.3256450C>T | CA493384598 | MEFV | c.138G>A (p.Gln46=) n.327G>A | |
16 | g.3256451T>A | CA394484375 | MEFV | c.137A>T (p.Gln46Leu) n.326A>T | COSMIC COSMIC |
16 | g.3256451T>C | CA7860527 | MEFV | c.137A>G (p.Gln46Arg) n.326A>G | dbSNP ExAC gnomAD v2 |
16 | g.3256451T>G | CA394484378 | MEFV | c.137A>C (p.Gln46Pro) n.326A>C | |
16 | g.3256451T= | CA2202665926 | MEFV | c.137A= (p.Gln46=) n.326A= | |
16 | g.3256452G>A | CA394484396 | MEFV | c.136C>T (p.Gln46Ter) n.325C>T | |
16 | g.3256452G>C | CA394484397 | MEFV | c.136C>G (p.Gln46Glu) n.325C>G | |
16 | g.3256452G>T | CA394484398 | MEFV | c.136C>A (p.Gln46Lys) n.325C>A | |
16 | g.3256453G>A | CA493384599 | MEFV | c.135C>T (p.Ile45=) n.324C>T | |
16 | g.3256453G>C | CA394484400 | MEFV | c.135C>G (p.Ile45Met) n.324C>G | dbSNP |
16 | g.3256453G= | CA2202665927 | MEFV | c.135C= (p.Ile45=) n.324C= | |
16 | g.3256453G>T | CA493384600 | MEFV | c.135C>A (p.Ile45=) n.324C>A | |
16 | g.3256454A>C | CA394484405 | MEFV | c.134T>G (p.Ile45Ser) n.323T>G | |
16 | g.3256454A>G | CA394484422 | MEFV | c.134T>C (p.Ile45Thr) n.323T>C | |
16 | g.3256454A>T | CA394484408 | MEFV | c.134T>A (p.Ile45Asn) n.323T>A | |
16 | g.3256455T>A | CA394484434 | MEFV | c.133A>T (p.Ile45Phe) n.322A>T | |
16 | g.3256455T>C | CA394484435 | MEFV | c.133A>G (p.Ile45Val) n.322A>G | |
16 | g.3256455T>G | CA394484436 | MEFV | c.133A>C (p.Ile45Leu) n.322A>C | gnomAD v4 |
16 | g.3256456C>A | CA394484441 | MEFV | c.132G>T (p.Gln44His) n.321G>T | |
16 | g.3256456C>G | CA394484450 | MEFV | c.132G>C (p.Gln44His) n.321G>C | |
16 | g.3256456C>T | CA493384604 | MEFV | c.132G>A (p.Gln44=) n.321G>A | |
16 | g.3256457T>A | CA394484457 | MEFV | c.131A>T (p.Gln44Leu) n.320A>T | gnomAD v4 |
16 | g.3256457T>C | CA394484462 | MEFV | c.131A>G (p.Gln44Arg) n.320A>G | |
16 | g.3256457T>G | CA394484465 | MEFV | c.131A>C (p.Gln44Pro) n.320A>C | |
16 | g.3256458G>A | CA394484471 | MEFV | c.130C>T (p.Gln44Ter) n.319C>T | ClinVar dbSNP |
16 | g.3256458G>C | CA394484473 | MEFV | c.130C>G (p.Gln44Glu) n.319C>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3256458G= | CA2202665928 | MEFV | c.130C= (p.Gln44=) n.319C= | |
16 | g.3256458G>T | CA394484475 | MEFV | c.130C>A (p.Gln44Lys) n.319C>A | |
16 | g.3256459G>A | CA493384605 | MEFV | c.129C>T (p.Ser43=) n.318C>T | ClinVar dbSNP gnomAD v4 |
16 | g.3256459G>C | CA394484478 | MEFV | c.129C>G (p.Ser43Arg) n.318C>G | |
16 | g.3256459G>T | CA394484481 | MEFV | c.129C>A (p.Ser43Arg) n.318C>A | |
16 | g.3256460C>A | CA394484484 | MEFV | c.128G>T (p.Ser43Ile) n.317G>T | |
16 | g.3256460C= | CA2202665929 | MEFV | c.128G= (p.Ser43=) n.317G= | |
16 | g.3256460C>G | CA394484488 | MEFV | c.128G>C (p.Ser43Thr) n.317G>C | |
16 | g.3256460C>T | CA7860528 | MEFV | c.128G>A (p.Ser43Asn) n.317G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3256461T>A | CA394484495 | MEFV | c.127A>T (p.Ser43Cys) n.316A>T | |
16 | g.3256461T>C | CA394484496 | MEFV | c.127A>G (p.Ser43Gly) n.316A>G | |
16 | g.3256461T>G | CA394484497 | MEFV | c.127A>C (p.Ser43Arg) n.316A>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3256461T= | CA2202665930 | MEFV | c.127A= (p.Ser43=) n.316A= | |
16 | g.3256462C>A | CA493384608 | MEFV | c.126G>T (p.Arg42=) n.315G>T | |
16 | g.3256462C= | CA2202665931 | MEFV | c.126G= (p.Arg42=) n.315G= | |
16 | g.3256462C>G | CA493384609 | MEFV | c.126G>C (p.Arg42=) n.315G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.3256462C>T | CA493384610 | MEFV | c.126G>A (p.Arg42=) n.315G>A | ClinVar |
16 | g.3256463C>A | CA394484501 | MEFV | c.125G>T (p.Arg42Leu) n.314G>T | |
16 | g.3256463C= | CA2202665932 | MEFV | c.125G= (p.Arg42=) n.314G= | |
16 | g.3256463C>G | CA394484503 | MEFV | c.125G>C (p.Arg42Pro) n.314G>C | |
16 | g.3256463C>T | CA7860529 | MEFV | c.125G>A (p.Arg42Gln) n.314G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |