Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
16 | g.3256464G>A | CA7860530 | MEFV | c.124C>T (p.Arg42Trp) n.313C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3256464G>C | CA394484515 | MEFV | c.124C>G (p.Arg42Gly) n.313C>G | dbSNP |
16 | g.3256464G= | CA2202665933 | MEFV | c.124C= (p.Arg42=) n.313C= | |
16 | g.3256464G>T | CA7860531 | MEFV | c.124C>A (p.Arg42=) n.313C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3256468del | CA645583243 | MEFV | c.124del (p.Arg42GlyfsTer10) n.313del | COSMIC COSMIC |
16 | g.3256465G>A | CA493384611 | MEFV | c.123C>T (p.Pro41=) n.312C>T | |
16 | g.3256465G>C | CA493384612 | MEFV | c.123C>G (p.Pro41=) n.312C>G | |
16 | g.3256465G>T | CA493384613 | MEFV | c.123C>A (p.Pro41=) n.312C>A | |
16 | g.3256466G>A | CA394484526 | MEFV | c.122C>T (p.Pro41Leu) n.311C>T | gnomAD v4 |
16 | g.3256466G>C | CA394484523 | MEFV | c.122C>G (p.Pro41Arg) n.311C>G | dbSNP gnomAD v4 |
16 | g.3256466G= | CA2202665934 | MEFV | c.122C= (p.Pro41=) n.311C= | |
16 | g.3256466G>T | CA394484520 | MEFV | c.122C>A (p.Pro41His) n.311C>A | |
16 | g.3256467G>A | CA394484530 | MEFV | c.121C>T (p.Pro41Ser) n.310C>T | COSMIC COSMIC |
16 | g.3256467G>C | CA394484531 | MEFV | c.121C>G (p.Pro41Ala) n.310C>G | |
16 | g.3256467G>T | CA394484532 | MEFV | c.121C>A (p.Pro41Thr) n.310C>A | |
16 | g.3256468G>A | CA493384614 | MEFV | c.120C>T (p.Ile40=) n.309C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
16 | g.3256468G>C | CA394484536 | MEFV | c.120C>G (p.Ile40Met) n.309C>G | |
16 | g.3256468G= | CA2202665935 | MEFV | c.120C= (p.Ile40=) n.309C= | |
16 | g.3256468G>T | CA493384615 | MEFV | c.120C>A (p.Ile40=) n.309C>A | gnomAD v4 |
16 | g.3256469A>C | CA394484542 | MEFV | c.119T>G (p.Ile40Ser) n.308T>G | |
16 | g.3256469A>G | CA394484555 | MEFV | c.119T>C (p.Ile40Thr) n.308T>C | |
16 | g.3256469A>T | CA394484559 | MEFV | c.119T>A (p.Ile40Asn) n.308T>A | |
16 | g.3256470T>A | CA394484565 | MEFV | c.118A>T (p.Ile40Phe) n.307A>T | |
16 | g.3256470T>C | CA394484570 | MEFV | c.118A>G (p.Ile40Val) n.307A>G | |
16 | g.3256470T>G | CA394484574 | MEFV | c.118A>C (p.Ile40Leu) n.307A>C | |
16 | g.3256471C>A | CA394484577 | MEFV | c.117G>T (p.Arg39Ser) n.306G>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3256471C= | CA2202665936 | MEFV | c.117G= (p.Arg39=) n.306G= | |
16 | g.3256471C>G | CA394484583 | MEFV | c.117G>C (p.Arg39Ser) n.306G>C | COSMIC COSMIC |
16 | g.3256471C>T | CA493384618 | MEFV | c.117G>A (p.Arg39=) n.306G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.3256472C>A | CA394484590 | MEFV | c.116G>T (p.Arg39Met) n.305G>T | |
16 | g.3256472C= | CA2202665937 | MEFV | c.116G= (p.Arg39=) n.305G= | |
16 | g.3256472C>G | CA394484589 | MEFV | c.116G>C (p.Arg39Thr) n.305G>C | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
16 | g.3256472C>T | CA7860532 | MEFV | c.116G>A (p.Arg39Lys) n.305G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3256473T>A | CA394484594 | MEFV | c.115A>T (p.Arg39Trp) n.304A>T | |
16 | g.3256473T>C | CA394484596 | MEFV | c.115A>G (p.Arg39Gly) n.304A>G | |
16 | g.3256473T>G | CA493384619 | MEFV | c.115A>C (p.Arg39=) n.304A>C | |
16 | g.3256474G>A | CA493384620 | MEFV | c.114C>T (p.Ser38=) n.303C>T | gnomAD v4 |
16 | g.3256474G>C | CA493384621 | MEFV | c.114C>G (p.Ser38=) n.303C>G | |
16 | g.3256474G>T | CA493384622 | MEFV | c.114C>A (p.Ser38=) n.303C>A | |
16 | g.3256475G>A | CA394484605 | MEFV | c.113C>T (p.Ser38Phe) n.302C>T | COSMIC COSMIC |
16 | g.3256475G>C | CA394484622 | MEFV | c.113C>G (p.Ser38Cys) n.302C>G | |
16 | g.3256475G>T | CA394484629 | MEFV | c.113C>A (p.Ser38Tyr) n.302C>A | |
16 | g.3256476A>C | CA394484634 | MEFV | c.112T>G (p.Ser38Ala) n.301T>G | |
16 | g.3256476A>G | CA394484636 | MEFV | c.112T>C (p.Ser38Pro) n.301T>C | |
16 | g.3256476A>T | CA394484637 | MEFV | c.112T>A (p.Ser38Thr) n.301T>A | |
16 | g.3256477G>A | CA493384625 | MEFV | c.111C>T (p.His37=) n.300C>T | dbSNP gnomAD v4 |
16 | g.3256477G>C | CA394484641 | MEFV | c.111C>G (p.His37Gln) n.300C>G | |
16 | g.3256477G= | CA2202665938 | MEFV | c.111C= (p.His37=) n.300C= | |
16 | g.3256477G>T | CA394484645 | MEFV | c.111C>A (p.His37Gln) n.300C>A | |
16 | g.3256478T>A | CA394484650 | MEFV | c.110A>T (p.His37Leu) n.299A>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3256478T>C | CA394484653 | MEFV | c.110A>G (p.His37Arg) n.299A>G | |
16 | g.3256478T>G | CA394484655 | MEFV | c.110A>C (p.His37Pro) n.299A>C | |
16 | g.3256478T= | CA2202665939 | MEFV | c.110A= (p.His37=) n.299A= | |
16 | g.3256479G>A | CA394484665 | MEFV | c.109C>T (p.His37Tyr) n.298C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3256479G>C | CA394484660 | MEFV | c.109C>G (p.His37Asp) n.298C>G | |
16 | g.3256479G= | CA2202665940 | MEFV | c.109C= (p.His37=) n.298C= | |
16 | g.3256479G>T | CA394484657 | MEFV | c.109C>A (p.His37Asn) n.298C>A | |
16 | g.3256480C>A | CA394484669 | MEFV | c.108G>T (p.Glu36Asp) n.297G>T | |
16 | g.3256480C= | CA2202665941 | MEFV | c.108G= (p.Glu36=) n.297G= | |
16 | g.3256480C>G | CA394484673 | MEFV | c.108G>C (p.Glu36Asp) n.297G>C | |
16 | g.3256480C>T | CA7860533 | MEFV | c.108G>A (p.Glu36=) n.297G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3256481T>A | CA394484688 | MEFV | c.107A>T (p.Glu36Val) n.296A>T | |
16 | g.3256481T>C | CA276904511 | MEFV | c.107A>G (p.Glu36Gly) n.296A>G | dbSNP |
16 | g.3256481T>G | CA394484691 | MEFV | c.107A>C (p.Glu36Ala) n.296A>C | |
16 | g.3256481T= | CA2202665942 | MEFV | c.107A= (p.Glu36=) n.296A= | |
16 | g.3256482C>A | CA394484696 | MEFV | c.106G>T (p.Glu36Ter) n.295G>T | |
16 | g.3256482C= | CA2202665943 | MEFV | c.106G= (p.Glu36=) n.295G= | |
16 | g.3256482C>G | CA394484697 | MEFV | c.106G>C (p.Glu36Gln) n.295G>C | gnomAD v4 |
16 | g.3256482C>T | CA276904521 | MEFV | c.106G>A (p.Glu36Lys) n.295G>A | dbSNP |
16 | g.3256482_3256485delinsCCTT | CA2202665944 | MEFV | c.103_106delinsAAGG (p.Lys35=) n.292_295delinsAAGG | |
16 | g.3256483C>A | CA394484700 | MEFV | c.105G>T (p.Lys35Asn) n.294G>T | |
16 | g.3256483C>G | CA394484703 | MEFV | c.105G>C (p.Lys35Asn) n.294G>C | |
16 | g.3256483C>T | CA493384627 | MEFV | c.105G>A (p.Lys35=) n.294G>A | gnomAD v4 |
16 | g.3256485_3256487del | CA2202665945 | MEFV | c.103_105del (p.Lys35del) n.292_294del | dbSNP |
16 | g.3256484T>A | CA394484707 | MEFV | c.104A>T (p.Lys35Met) n.293A>T | |
16 | g.3256484T>C | CA394484708 | MEFV | c.104A>G (p.Lys35Arg) n.293A>G | |
16 | g.3256484T>G | CA394484709 | MEFV | c.104A>C (p.Lys35Thr) n.293A>C | gnomAD v4 |
16 | g.3256485T>A | CA394484716 | MEFV | c.103A>T (p.Lys35Ter) n.292A>T | gnomAD v4 |
16 | g.3256485T>C | CA394484720 | MEFV | c.103A>G (p.Lys35Glu) n.292A>G | |
16 | g.3256485T>G | CA394484712 | MEFV | c.103A>C (p.Lys35Gln) n.292A>C | |
16 | g.3256486C>A | CA394484727 | MEFV | c.102G>T (p.Gln34His) n.291G>T | |
16 | g.3256486C= | CA2202665946 | MEFV | c.102G= (p.Gln34=) n.291G= | |
16 | g.3256486C>G | CA394484728 | MEFV | c.102G>C (p.Gln34His) n.291G>C | |
16 | g.3256486C>T | CA493384629 | MEFV | c.102G>A (p.Gln34=) n.291G>A | dbSNP gnomAD v2 |
16 | g.3256487T>A | CA394484731 | MEFV | c.101A>T (p.Gln34Leu) n.290A>T | |
16 | g.3256487T>C | CA394484732 | MEFV | c.101A>G (p.Gln34Arg) n.290A>G | |
16 | g.3256487T>G | CA394484735 | MEFV | c.101A>C (p.Gln34Pro) n.290A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.3256487T= | CA2202665947 | MEFV | c.101A= (p.Gln34=) n.290A= | |
16 | g.3256488G>A | CA394484744 | MEFV | c.100C>T (p.Gln34Ter) n.289C>T | |
16 | g.3256488G>C | CA394484757 | MEFV | c.100C>G (p.Gln34Glu) n.289C>G | |
16 | g.3256488G>T | CA394484760 | MEFV | c.100C>A (p.Gln34Lys) n.289C>A | |
16 | g.3256489C>A | CA493384630 | MEFV | c.99G>T (p.Val33=) n.288G>T | |
16 | g.3256489C= | CA2202665948 | MEFV | c.99G= (p.Val33=) n.288G= | |
16 | g.3256489C>G | CA493384631 | MEFV | c.99G>C (p.Val33=) n.288G>C | |
16 | g.3256489C>T | CA7860534 | MEFV | c.99G>A (p.Val33=) n.288G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3256490A>C | CA394484765 | MEFV | c.98T>G (p.Val33Gly) n.287T>G | ClinVar |
16 | g.3256490A>G | CA394484766 | MEFV | c.98T>C (p.Val33Ala) n.287T>C | |
16 | g.3256490A>T | CA394484769 | MEFV | c.98T>A (p.Val33Glu) n.287T>A | |
16 | g.3256491C>A | CA280289 | MEFV | c.97G>T (p.Val33Leu) n.286G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3256491C= | CA2202665949 | MEFV | c.97G= (p.Val33=) n.286G= | |
16 | g.3256491C>G | CA394484780 | MEFV | c.97G>C (p.Val33Leu) n.286G>C | |
16 | g.3256491C>T | CA394484777 | MEFV | c.97G>A (p.Val33Met) n.286G>A | gnomAD v4 |
16 | g.3256492A= | CA2202665950 | MEFV | c.96T= (p.Ser32=) n.285T= | |
16 | g.3256492A>C | CA394484787 | MEFV | c.96T>G (p.Ser32Arg) n.285T>G | |
16 | g.3256492A>G | CA7860535 | MEFV | c.96T>C (p.Ser32=) n.285T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3256492A>T | CA394484800 | MEFV | c.96T>A (p.Ser32Arg) n.285T>A | COSMIC |
16 | g.3256493C>A | CA394484804 | MEFV | c.95G>T (p.Ser32Ile) n.284G>T | gnomAD v4 |
16 | g.3256493C= | CA2202665951 | MEFV | c.95G= (p.Ser32=) n.284G= | |
16 | g.3256493C>G | CA394484805 | MEFV | c.95G>C (p.Ser32Thr) n.284G>C | |
16 | g.3256493C>T | CA7860536 | MEFV | c.95G>A (p.Ser32Asn) n.284G>A | dbSNP ExAC gnomAD v2 |
16 | g.3256494T>A | CA394484813 | MEFV | c.94A>T (p.Ser32Cys) n.283A>T | ClinVar dbSNP |
16 | g.3256494T>C | CA394484821 | MEFV | c.94A>G (p.Ser32Gly) n.283A>G | |
16 | g.3256494T>G | CA394484827 | MEFV | c.94A>C (p.Ser32Arg) n.283A>C | |
16 | g.3256494T= | CA2202665952 | MEFV | c.94A= (p.Ser32=) n.283A= | |
16 | g.3256495G>A | CA493384632 | MEFV | c.93C>T (p.Thr31=) n.282C>T | |
16 | g.3256495G>C | CA493384633 | MEFV | c.93C>G (p.Thr31=) n.282C>G | |
16 | g.3256495G>T | CA493384634 | MEFV | c.93C>A (p.Thr31=) n.282C>A | |
16 | g.3256496G>A | CA394484833 | MEFV | c.92C>T (p.Thr31Ile) n.281C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3256496G>C | CA394484834 | MEFV | c.92C>G (p.Thr31Ser) n.281C>G | |
16 | g.3256496G= | CA2202665953 | MEFV | c.92C= (p.Thr31=) n.281C= | |
16 | g.3256496G>T | CA394484835 | MEFV | c.92C>A (p.Thr31Asn) n.281C>A | COSMIC COSMIC |
16 | g.3256497T>A | CA394484848 | MEFV | c.91A>T (p.Thr31Ser) n.280A>T | |
16 | g.3256497T>C | CA394484844 | MEFV | c.91A>G (p.Thr31Ala) n.280A>G | |
16 | g.3256497T>G | CA394484836 | MEFV | c.91A>C (p.Thr31Pro) n.280A>C | |
16 | g.3256498G>A | CA493384635 | MEFV | c.90C>T (p.Asn30=) n.279C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3256498G>C | CA394484852 | MEFV | c.90C>G (p.Asn30Lys) n.279C>G | |
16 | g.3256498G= | CA2202665954 | MEFV | c.90C= (p.Asn30=) n.279C= | |
16 | g.3256498G>T | CA394484854 | MEFV | c.90C>A (p.Asn30Lys) n.279C>A | |
16 | g.3256499T>A | CA394484858 | MEFV | c.89A>T (p.Asn30Ile) n.278A>T | |
16 | g.3256499T>C | CA394484859 | MEFV | c.89A>G (p.Asn30Ser) n.278A>G | |
16 | g.3256499T>G | CA394484860 | MEFV | c.89A>C (p.Asn30Thr) n.278A>C | |
16 | g.3256500T>A | CA394484863 | MEFV | c.88A>T (p.Asn30Tyr) n.277A>T | |
16 | g.3256500T>C | CA394484866 | MEFV | c.88A>G (p.Asn30Asp) n.277A>G | |
16 | g.3256500T>G | CA394484871 | MEFV | c.88A>C (p.Asn30His) n.277A>C | |
16 | g.3256501C>A | CA394484875 | MEFV | c.87G>T (p.Gln29His) n.276G>T | |
16 | g.3256501C= | CA2202665955 | MEFV | c.87G= (p.Gln29=) n.276G= | |
16 | g.3256501C>G | CA394484876 | MEFV | c.87G>C (p.Gln29His) n.276G>C | |
16 | g.3256501C>T | CA7860537 | MEFV | c.87G>A (p.Gln29=) n.276G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3256502T>A | CA394484882 | MEFV | c.86A>T (p.Gln29Leu) n.275A>T | |
16 | g.3256502T>C | CA394484883 | MEFV | c.86A>G (p.Gln29Arg) n.275A>G | |
16 | g.3256502T>G | CA394484884 | MEFV | c.86A>C (p.Gln29Pro) n.275A>C | |
16 | g.3256503G>A | CA394484903 | MEFV | c.85C>T (p.Gln29Ter) n.274C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3256503G>C | CA394484889 | MEFV | c.85C>G (p.Gln29Glu) n.274C>G | |
16 | g.3256503G= | CA2202665956 | MEFV | c.85C= (p.Gln29=) n.274C= | |
16 | g.3256503G>T | CA394484886 | MEFV | c.85C>A (p.Gln29Lys) n.274C>A | |
16 | g.3256503_3256504insGATTTTGGTAGACCTGAGACTCCCAATCCC | CA2805617951 | MEFV | c.84_85insGGGATTGGGAGTCTCAGGTCTACCAAAATC (p.Leu28_Gln29insGlyIleGlySerLeuArgSerThrLysIle) n.273_274insGGGATTGGGAGTCTCAGGTCTACCAAAATC | |
16 | g.3256504C>A | CA493384636 | MEFV | c.84G>T (p.Leu28=) n.273G>T | |
16 | g.3256504C= | CA2202665957 | MEFV | c.84G= (p.Leu28=) n.273G= | |
16 | g.3256504C>G | CA493384638 | MEFV | c.84G>C (p.Leu28=) n.273G>C | |
16 | g.3256504C>T | CA493384637 | MEFV | c.84G>A (p.Leu28=) n.273G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.3256505A>C | CA394484908 | MEFV | c.83T>G (p.Leu28Arg) n.272T>G | |
16 | g.3256505A>G | CA394484909 | MEFV | c.83T>C (p.Leu28Pro) n.272T>C | |
16 | g.3256505A>T | CA394484910 | MEFV | c.83T>A (p.Leu28Gln) n.272T>A | |
16 | g.3256506G>A | CA493384639 | MEFV | c.82C>T (p.Leu28=) n.271C>T | dbSNP |
16 | g.3256506G>C | CA7860538 | MEFV | c.82C>G (p.Leu28Val) n.271C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3256506G= | CA2202665958 | MEFV | c.82C= (p.Leu28=) n.271C= | |
16 | g.3256506G>T | CA394484917 | MEFV | c.82C>A (p.Leu28Met) n.271C>A | gnomAD v4 |
16 | g.3256507C>A | CA394484925 | MEFV | c.81G>T (p.Lys27Asn) n.270G>T | |
16 | g.3256507C>G | CA394484929 | MEFV | c.81G>C (p.Lys27Asn) n.270G>C | |
16 | g.3256507C>T | CA493384640 | MEFV | c.81G>A (p.Lys27=) n.270G>A | gnomAD v4 |
16 | g.3256516_3256521dup | CA2202665959 | MEFV | c.76_81dup (p.Lys27_Leu28insPheLys) n.265_270dup | dbSNP |
16 | g.3256508T>A | CA394484938 | MEFV | c.80A>T (p.Lys27Met) n.269A>T | |
16 | g.3256508T>C | CA394484943 | MEFV | c.80A>G (p.Lys27Arg) n.269A>G | |
16 | g.3256508T>G | CA394484952 | MEFV | c.80A>C (p.Lys27Thr) n.269A>C | |
16 | g.3256509T>A | CA394484970 | MEFV | c.79A>T (p.Lys27Ter) n.268A>T | |
16 | g.3256509T>C | CA394484985 | MEFV | c.79A>G (p.Lys27Glu) n.268A>G | |
16 | g.3256509T>G | CA394485003 | MEFV | c.79A>C (p.Lys27Gln) n.268A>C | |
16 | g.3256510G>A | CA493384641 | MEFV | c.78C>T (p.Phe26=) n.267C>T | |
16 | g.3256510G>C | CA394485016 | MEFV | c.78C>G (p.Phe26Leu) n.267C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3256510G= | CA2202665960 | MEFV | c.78C= (p.Phe26=) n.267C= | |
16 | g.3256510G>T | CA394485009 | MEFV | c.78C>A (p.Phe26Leu) n.267C>A | |
16 | g.3256511A>C | CA394485017 | MEFV | c.77T>G (p.Phe26Cys) n.266T>G | |
16 | g.3256511A>G | CA394485018 | MEFV | c.77T>C (p.Phe26Ser) n.266T>C | |
16 | g.3256511A>T | CA394485021 | MEFV | c.77T>A (p.Phe26Tyr) n.266T>A | |
16 | g.3256512A= | CA2202665961 | MEFV | c.76T= (p.Phe26=) n.265T= | |
16 | g.3256512A>C | CA394485026 | MEFV | c.76T>G (p.Phe26Val) n.265T>G | |
16 | g.3256512A>G | CA7860539 | MEFV | c.76T>C (p.Phe26Leu) n.265T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3256512A>T | CA394485030 | MEFV | c.76T>A (p.Phe26Ile) n.265T>A | |
16 | g.3256513C>A | CA394485050 | MEFV | c.75G>T (p.Lys25Asn) n.264G>T | gnomAD v4 |
16 | g.3256513C= | CA2202665962 | MEFV | c.75G= (p.Lys25=) n.264G= | |
16 | g.3256513C>G | CA394485054 | MEFV | c.75G>C (p.Lys25Asn) n.264G>C | |
16 | g.3256513C>T | CA493384642 | MEFV | c.75G>A (p.Lys25=) n.264G>A | dbSNP |
16 | g.3256514T>A | CA394485056 | MEFV | c.74A>T (p.Lys25Met) n.263A>T | |
16 | g.3256514T>C | CA276904550 | MEFV | c.74A>G (p.Lys25Arg) n.263A>G | ClinVar dbSNP gnomAD v4 |
16 | g.3256514T>G | CA276904559 | MEFV | c.74A>C (p.Lys25Thr) n.263A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
16 | g.3256514T= | CA2202665963 | MEFV | c.74A= (p.Lys25=) n.263A= | |
16 | g.3256515T>A | CA394485068 | MEFV | c.73A>T (p.Lys25Ter) n.262A>T | |
16 | g.3256515T>C | CA394485071 | MEFV | c.73A>G (p.Lys25Glu) n.262A>G | |
16 | g.3256515T>G | CA394485072 | MEFV | c.73A>C (p.Lys25Gln) n.262A>C | |
16 | g.3256516G>A | CA493384643 | MEFV | c.72C>T (p.Phe24=) n.261C>T | |
16 | g.3256516G>C | CA394485076 | MEFV | c.72C>G (p.Phe24Leu) n.261C>G | |
16 | g.3256516G>T | CA394485074 | MEFV | c.72C>A (p.Phe24Leu) n.261C>A | |
16 | g.3256519_3256527del | CA2631357236 | MEFV | c.64_72del (p.Glu22_Phe24del) n.253_261del | gnomAD v4 |
16 | g.3256517A>C | CA394485086 | MEFV | c.71T>G (p.Phe24Cys) n.260T>G | |
16 | g.3256517A>G | CA394485095 | MEFV | c.71T>C (p.Phe24Ser) n.260T>C | |
16 | g.3256517A>T | CA394485099 | MEFV | c.71T>A (p.Phe24Tyr) n.260T>A | |
16 | g.3256518A= | CA2202665964 | MEFV | c.70T= (p.Phe24=) n.259T= | |
16 | g.3256518A>C | CA394485103 | MEFV | c.70T>G (p.Phe24Val) n.259T>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3256518A>G | CA394485124 | MEFV | c.70T>C (p.Phe24Leu) n.259T>C | |
16 | g.3256518A>T | CA394485127 | MEFV | c.70T>A (p.Phe24Ile) n.259T>A | |
16 | g.3256519C>A | CA394485152 | MEFV | c.69G>T (p.Lys23Asn) n.258G>T | |
16 | g.3256519C= | CA2202665965 | MEFV | c.69G= (p.Lys23=) n.258G= | |
16 | g.3256519C>G | CA7860540 | MEFV | c.69G>C (p.Lys23Asn) n.258G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3256519C>T | CA493384644 | MEFV | c.69G>A (p.Lys23=) n.258G>A | gnomAD v4 |
16 | g.3256520T>A | CA394485153 | MEFV | c.68A>T (p.Lys23Met) n.257A>T | |
16 | g.3256520T>C | CA7860541 | MEFV | c.68A>G (p.Lys23Arg) n.257A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3256520T>G | CA394485161 | MEFV | c.68A>C (p.Lys23Thr) n.257A>C | |
16 | g.3256520T= | CA2202665966 | MEFV | c.68A= (p.Lys23=) n.257A= | |
16 | g.3256521T>A | CA394485171 | MEFV | c.67A>T (p.Lys23Ter) n.256A>T | |
16 | g.3256521T>C | CA394485180 | MEFV | c.67A>G (p.Lys23Glu) n.256A>G | |
16 | g.3256521T>G | CA394485191 | MEFV | c.67A>C (p.Lys23Gln) n.256A>C | |
16 | g.3256522C>A | CA394485199 | MEFV | c.66G>T (p.Glu22Asp) n.255G>T | |
16 | g.3256522C= | CA2202665967 | MEFV | c.66G= (p.Glu22=) n.255G= | |
16 | g.3256522C>G | CA394485214 | MEFV | c.66G>C (p.Glu22Asp) n.255G>C | gnomAD v4 |
16 | g.3256522C>T | CA7860542 | MEFV | c.66G>A (p.Glu22=) n.255G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3256522_3256523delinsCT | CA2202665968 | MEFV | c.65_66delinsAG (p.Glu22=) n.254_255delinsAG | |
16 | g.3256523del | CA7860543 | MEFV | c.65del (p.Glu22GlyfsTer30) n.254del | ClinVar dbSNP ExAC gnomAD v4 |
16 | g.3256523T>A | CA394485229 | MEFV | c.65A>T (p.Glu22Val) n.254A>T | |
16 | g.3256523T>C | CA394485232 | MEFV | c.65A>G (p.Glu22Gly) n.254A>G | gnomAD v4 |
16 | g.3256523T>G | CA394485243 | MEFV | c.65A>C (p.Glu22Ala) n.254A>C | |
16 | g.3256524C>A | CA394485257 | MEFV | c.64G>T (p.Glu22Ter) n.253G>T | |
16 | g.3256524C= | CA2202665969 | MEFV | c.64G= (p.Glu22=) n.253G= | |
16 | g.3256524C>G | CA394485260 | MEFV | c.64G>C (p.Glu22Gln) n.253G>C | |
16 | g.3256524C>T | CA7860544 | MEFV | c.64G>A (p.Glu22Lys) n.253G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3256525G>A | CA493384645 | MEFV | c.63C>T (p.Phe21=) n.252C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.3256525G>C | CA394485270 | MEFV | c.63C>G (p.Phe21Leu) n.252C>G | ClinVar dbSNP gnomAD v4 |
16 | g.3256525G= | CA2202665970 | MEFV | c.63C= (p.Phe21=) n.252C= | |
16 | g.3256525G>T | CA394485271 | MEFV | c.63C>A (p.Phe21Leu) n.252C>A | ClinVar dbSNP gnomAD v4 |
16 | g.3256526A= | CA2202665971 | MEFV | c.62T= (p.Phe21=) n.251T= | |
16 | g.3256526A>C | CA394485281 | MEFV | c.62T>G (p.Phe21Cys) n.251T>G | |
16 | g.3256526A>G | CA394485284 | MEFV | c.62T>C (p.Phe21Ser) n.251T>C | |
16 | g.3256526A>T | CA394485288 | MEFV | c.62T>A (p.Phe21Tyr) n.251T>A | dbSNP COSMIC COSMIC |
16 | g.3256527dup | CA7860545 | MEFV | c.62dup (p.Glu22ArgfsTer?) n.251dup | dbSNP ExAC gnomAD v2 |
16 | g.3256527A>C | CA394485292 | MEFV | c.61T>G (p.Phe21Val) n.250T>G | |
16 | g.3256527A>G | CA394485295 | MEFV | c.61T>C (p.Phe21Leu) n.250T>C | ClinVar gnomAD v4 |
16 | g.3256527A>T | CA394485300 | MEFV | c.61T>A (p.Phe21Ile) n.250T>A | |
16 | g.3256528G>A | CA493384646 | MEFV | c.60C>T (p.Asp20=) n.249C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3256528G>C | CA7860546 | MEFV | c.60C>G (p.Asp20Glu) n.249C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3256528G= | CA2202665972 | MEFV | c.60C= (p.Asp20=) n.249C= | |
16 | g.3256528G>T | CA394485306 | MEFV | c.60C>A (p.Asp20Glu) n.249C>A | |
16 | g.3256529T>A | CA394485313 | MEFV | c.59A>T (p.Asp20Val) n.248A>T | |
16 | g.3256529T>C | CA394485314 | MEFV | c.59A>G (p.Asp20Gly) n.248A>G | gnomAD v4 |
16 | g.3256529T>G | CA394485315 | MEFV | c.59A>C (p.Asp20Ala) n.248A>C | |
16 | g.3256529T= | CA2202665973 | MEFV | c.59A= (p.Asp20=) n.248A= | |
16 | g.3256529_3256530insTTTTAAG | CA919641903 | MEFV | c.58_59insCTTAAAA (p.Asp20AlafsTer2) n.247_248insCTTAAAA | dbSNP |
16 | g.3256530C>A | CA394485320 | MEFV | c.58G>T (p.Asp20Tyr) n.247G>T | |
16 | g.3256530C= | CA2202665974 | MEFV | c.58G= (p.Asp20=) n.247G= | |
16 | g.3256530C>G | CA394485327 | MEFV | c.58G>C (p.Asp20His) n.247G>C | |
16 | g.3256530C>T | CA394485334 | MEFV | c.58G>A (p.Asp20Asn) n.247G>A | gnomAD v4 |
16 | g.3256531A>C | CA394485341 | MEFV | c.57T>G (p.Tyr19Ter) n.246T>G | |
16 | g.3256531A>G | CA493384647 | MEFV | c.57T>C (p.Tyr19=) n.246T>C | gnomAD v4 |
16 | g.3256531A>T | CA394485356 | MEFV | c.57T>A (p.Tyr19Ter) n.246T>A | |
16 | g.3256531_3256532insGGACAACTGTTTCAAATAAGATCTTACACAGGTCAGCAAAACCCAGATTATACGCTTTAAAAATAAAAA | CA919641904 | MEFV | c.57_58insTTTTATTTTTAAAGCGTATAATCTGGGTTTTGCTGACCTGTGTAAGATCTTATTTGAAACAGTTGTCCT n.246_247insTTTTATTTTTAAAGCGTATAATCTGGGTTTTGCTGACCTGTGTAAGATCTTATTTGAAACAGTTGTCCT | dbSNP |
16 | g.3256532T>A | CA394485361 | MEFV | c.56A>T (p.Tyr19Phe) n.245A>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3256532T>C | CA7860547 | MEFV | c.56A>G (p.Tyr19Cys) n.245A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3256532T>G | CA394485373 | MEFV | c.56A>C (p.Tyr19Ser) n.245A>C | |
16 | g.3256532T= | CA2202665975 | MEFV | c.56A= (p.Tyr19=) n.245A= | |
16 | g.3256533A= | CA2202665976 | MEFV | c.55T= (p.Tyr19=) n.244T= | |
16 | g.3256533A>C | CA276904574 | MEFV | c.55T>G (p.Tyr19Asp) n.244T>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3256533A>G | CA394485382 | MEFV | c.55T>C (p.Tyr19His) n.244T>C | |
16 | g.3256533A>T | CA394485378 | MEFV | c.55T>A (p.Tyr19Asn) n.244T>A | |
16 | g.3256534G>A | CA493384648 | MEFV | c.54C>T (p.Pro18=) n.243C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.3256534G>C | CA493384649 | MEFV | c.54C>G (p.Pro18=) n.243C>G | |
16 | g.3256534G= | CA2202665977 | MEFV | c.54C= (p.Pro18=) n.243C= | |
16 | g.3256534G>T | CA493384650 | MEFV | c.54C>A (p.Pro18=) n.243C>A | |
16 | g.3256535G>A | CA394485424 | MEFV | c.53C>T (p.Pro18Leu) n.242C>T | |
16 | g.3256535G>C | CA394485425 | MEFV | c.53C>G (p.Pro18Arg) n.242C>G | |
16 | g.3256535G>T | CA394485426 | MEFV | c.53C>A (p.Pro18His) n.242C>A | gnomAD v4 |
16 | g.3256536G>A | CA394485429 | MEFV | c.52C>T (p.Pro18Ser) n.241C>T | |
16 | g.3256536G>C | CA394485438 | MEFV | c.52C>G (p.Pro18Ala) n.241C>G | |
16 | g.3256536G= | CA2202665978 | MEFV | c.52C= (p.Pro18=) n.241C= | |
16 | g.3256536G>T | CA276904577 | MEFV | c.52C>A (p.Pro18Thr) n.241C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3256537C>A | CA493384651 | MEFV | c.51G>T (p.Val17=) n.240G>T | |
16 | g.3256537C= | CA2202665979 | MEFV | c.51G= (p.Val17=) n.240G= | |
16 | g.3256537C>G | CA493384652 | MEFV | c.51G>C (p.Val17=) n.240G>C | |
16 | g.3256537C>T | CA493384653 | MEFV | c.51G>A (p.Val17=) n.240G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3256538A>C | CA394485444 | MEFV | c.50T>G (p.Val17Gly) n.239T>G | |
16 | g.3256538A>G | CA394485447 | MEFV | c.50T>C (p.Val17Ala) n.239T>C | |
16 | g.3256538A>T | CA394485449 | MEFV | c.50T>A (p.Val17Glu) n.239T>A | |
16 | g.3256539C>A | CA394485453 | MEFV | c.49G>T (p.Val17Leu) n.238G>T | gnomAD v4 |
16 | g.3256539C= | CA2202665980 | MEFV | c.49G= (p.Val17=) n.238G= | |
16 | g.3256539C>G | CA394485459 | MEFV | c.49G>C (p.Val17Leu) n.238G>C | dbSNP gnomAD v2 |
16 | g.3256539C>T | CA394485464 | MEFV | c.49G>A (p.Val17Met) n.238G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3256540C>A | CA493384655 | MEFV | c.48G>T (p.Leu16=) n.237G>T | gnomAD v4 |
16 | g.3256540C= | CA2202665981 | MEFV | c.48G= (p.Leu16=) n.237G= | |
16 | g.3256540C>G | CA493384654 | MEFV | c.48G>C (p.Leu16=) n.237G>C | |
16 | g.3256540C>T | CA7860548 | MEFV | c.48G>A (p.Leu16=) n.237G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3256541A>C | CA394485479 | MEFV | c.47T>G (p.Leu16Arg) n.236T>G | |
16 | g.3256541A>G | CA394485474 | MEFV | c.47T>C (p.Leu16Pro) n.236T>C | |
16 | g.3256541A>T | CA394485475 | MEFV | c.47T>A (p.Leu16Gln) n.236T>A | |
16 | g.3256542G>A | CA7860549 | MEFV | c.46C>T (p.Leu16=) n.235C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3256542G>C | CA394485486 | MEFV | c.46C>G (p.Leu16Val) n.235C>G | dbSNP |
16 | g.3256542G= | CA2202665982 | MEFV | c.46C= (p.Leu16=) n.235C= | |
16 | g.3256542G>T | CA394485487 | MEFV | c.46C>A (p.Leu16Met) n.235C>A | |
16 | g.3256543C>A | CA394485491 | MEFV | c.45G>T (p.Glu15Asp) n.234G>T | |
16 | g.3256543C= | CA2202665983 | MEFV | c.45G= (p.Glu15=) n.234G= | |
16 | g.3256543C>G | CA394485497 | MEFV | c.45G>C (p.Glu15Asp) n.234G>C | |
16 | g.3256543C>T | CA493384656 | MEFV | c.45G>A (p.Glu15=) n.234G>A | dbSNP |
16 | g.3256544del | CA2575889923 | MEFV | c.44del (p.Glu15GlyfsTer?) n.233del | |
16 | g.3256544T>A | CA394485519 | MEFV | c.44A>T (p.Glu15Val) n.233A>T | |
16 | g.3256544T>C | CA394485526 | MEFV | c.44A>G (p.Glu15Gly) n.233A>G | |
16 | g.3256544T>G | CA394485527 | MEFV | c.44A>C (p.Glu15Ala) n.233A>C | |
16 | g.3256545C>A | CA394485534 | MEFV | c.43G>T (p.Glu15Ter) n.232G>T | |
16 | g.3256545C>G | CA394485552 | MEFV | c.43G>C (p.Glu15Gln) n.232G>C | |
16 | g.3256545C>T | CA394485559 | MEFV | c.43G>A (p.Glu15Lys) n.232G>A | gnomAD v4 COSMIC COSMIC |
16 | g.3256546C>A | CA394485574 | MEFV | c.42G>T (p.Glu14Asp) n.231G>T | |
16 | g.3256546C= | CA2202665984 | MEFV | c.42G= (p.Glu14=) n.231G= | |
16 | g.3256546C>G | CA394485565 | MEFV | c.42G>C (p.Glu14Asp) n.231G>C | |
16 | g.3256546C>T | CA292057 | MEFV | c.42G>A (p.Glu14=) n.231G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3256547T>A | CA394485588 | MEFV | c.41A>T (p.Glu14Val) n.230A>T | |
16 | g.3256547T>C | CA394485592 | MEFV | c.41A>G (p.Glu14Gly) n.230A>G | |
16 | g.3256547T>G | CA394485589 | MEFV | c.41A>C (p.Glu14Ala) n.230A>C | |
16 | g.3256548C>A | CA394485597 | MEFV | c.40G>T (p.Glu14Ter) n.229G>T | |
16 | g.3256548C>G | CA394485607 | MEFV | c.40G>C (p.Glu14Gln) n.229G>C | gnomAD v4 |
16 | g.3256548C>T | CA394485603 | MEFV | c.40G>A (p.Glu14Lys) n.229G>A | |
16 | g.3256549C>A | CA493384657 | MEFV | c.39G>T (p.Leu13=) n.228G>T | |
16 | g.3256549C= | CA2202665985 | MEFV | c.39G= (p.Leu13=) n.228G= | |
16 | g.3256549C>G | CA493384659 | MEFV | c.39G>C (p.Leu13=) n.228G>C | |
16 | g.3256549C>T | CA493384658 | MEFV | c.39G>A (p.Leu13=) n.228G>A | dbSNP COSMIC COSMIC |
16 | g.3256550A= | CA2202665986 | MEFV | c.38T= (p.Leu13=) n.227T= | |
16 | g.3256550A>C | CA394485613 | MEFV | c.38T>G (p.Leu13Arg) n.227T>G | |
16 | g.3256550A>G | CA394485627 | MEFV | c.38T>C (p.Leu13Pro) n.227T>C | |
16 | g.3256550A>T | CA394485619 | MEFV | c.38T>A (p.Leu13Gln) n.227T>A | ClinVar dbSNP |
16 | g.3256551G>A | CA493384660 | MEFV | c.37C>T (p.Leu13=) n.226C>T | |
16 | g.3256551G>C | CA7860550 | MEFV | c.37C>G (p.Leu13Val) n.226C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3256551G= | CA2202665987 | MEFV | c.37C= (p.Leu13=) n.226C= | |
16 | g.3256551G>T | CA394485640 | MEFV | c.37C>A (p.Leu13Met) n.226C>A | |
16 | g.3256552G>A | CA493384661 | MEFV | c.36C>T (p.Thr12=) n.225C>T | |
16 | g.3256552G>C | CA493384662 | MEFV | c.36C>G (p.Thr12=) n.225C>G | |
16 | g.3256552G>T | CA493384663 | MEFV | c.36C>A (p.Thr12=) n.225C>A | COSMIC COSMIC |
16 | g.3256553G>A | CA7860551 | MEFV | c.35C>T (p.Thr12Ile) n.224C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3256553G>C | CA394485654 | MEFV | c.35C>G (p.Thr12Ser) n.224C>G | |
16 | g.3256553G= | CA2202665988 | MEFV | c.35C= (p.Thr12=) n.224C= | |
16 | g.3256553G>T | CA394485649 | MEFV | c.35C>A (p.Thr12Asn) n.224C>A | gnomAD v4 |
16 | g.3256554T>A | CA394485657 | MEFV | c.34A>T (p.Thr12Ser) n.223A>T | |
16 | g.3256554T>C | CA394485660 | MEFV | c.34A>G (p.Thr12Ala) n.223A>G | |
16 | g.3256554T>G | CA394485659 | MEFV | c.34A>C (p.Thr12Pro) n.223A>C | gnomAD v4 |