| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3254507_3254531dup | CA2631355003 | MEFV | c.545_569dup (p.Cys191AlafsTer?) c.277+1788_277+1812dup (n.277+1788_277+1812dup) n.734_758dup | gnomAD v4 |
| 16 | g.3254507_3254531del | CA7860395 | MEFV | c.545_569del (p.Leu182ProfsTer5) c.277+1788_277+1812del (n.277+1788_277+1812del) n.734_758del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3254526dup | CA2956803054 | MEFV | c.544dup (p.Leu182ProfsTer?) c.277+1787dup (n.277+1787dup) n.733dup | |
| 16 | g.3254526del | CA2631355061 | MEFV | c.544del (p.Leu182CysfsTer13) c.277+1787del (n.277+1787del) n.733del | ClinVar gnomAD v4 |
| 16 | g.3254526G>A | CA394480892 | MEFV | c.542C>T (p.Ala181Val) c.277+1785C>T (n.277+1785C>T) n.731C>T | gnomAD v4 |
| 16 | g.3254526G>C | CA394480893 | MEFV | c.542C>G (p.Ala181Gly) c.277+1785C>G (n.277+1785C>G) n.731C>G | |
| 16 | g.3254526G= | CA2202664848 | MEFV | c.542C= (p.Ala181=) c.277+1785C= (n.277+1785C=) n.731C= | |
| 16 | g.3254526G>T | CA394480895 | MEFV | c.542C>A (p.Ala181Asp) c.277+1785C>A (n.277+1785C>A) n.731C>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3254527C>A | CA394480898 | MEFV | c.541G>T (p.Ala181Ser) c.277+1784G>T (n.277+1784G>T) n.730G>T | gnomAD v4 |
| 16 | g.3254527C>G | CA394480899 | MEFV | c.541G>C (p.Ala181Pro) c.277+1784G>C (n.277+1784G>C) n.730G>C | |
| 16 | g.3254527C>T | CA394480901 | MEFV | c.541G>A (p.Ala181Thr) c.277+1784G>A (n.277+1784G>A) n.730G>A | gnomAD v4 |
| 16 | g.3254528C>A | CA493384170 | MEFV | c.540G>T (p.Pro180=) c.277+1783G>T (n.277+1783G>T) n.729G>T | gnomAD v4 |
| 16 | g.3254528C= | CA2202664849 | MEFV | c.540G= (p.Pro180=) c.277+1783G= (n.277+1783G=) n.729G= | |
| 16 | g.3254528C>G | CA280626 | MEFV | c.540G>C (p.Pro180=) c.277+1783G>C (n.277+1783G>C) n.729G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3254528C>T | CA493384169 | MEFV | c.540G>A (p.Pro180=) c.277+1783G>A (n.277+1783G>A) n.729G>A | ClinVar dbSNP gnomAD v4 |
| 16 | g.3254529G>A | CA276902697 | MEFV | c.539C>T (p.Pro180Leu) c.277+1782C>T (n.277+1782C>T) n.728C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3254529G>C | CA280623 | MEFV | c.539C>G (p.Pro180Arg) c.277+1782C>G (n.277+1782C>G) n.728C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3254529G= | CA2202664850 | MEFV | c.539C= (p.Pro180=) c.277+1782C= (n.277+1782C=) n.728C= | |
| 16 | g.3254529G>T | CA10588616 | MEFV | c.539C>A (p.Pro180Gln) c.277+1782C>A (n.277+1782C>A) n.728C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3254531del | CA2631355078 | MEFV | c.539del (p.Pro180ArgfsTer15) c.277+1782del (n.277+1782del) n.728del | gnomAD v4 |
| 16 | g.3254530G>A | CA394480909 | MEFV | c.538C>T (p.Pro180Ser) c.277+1781C>T (n.277+1781C>T) n.727C>T | |
| 16 | g.3254530G>C | CA394480912 | MEFV | c.538C>G (p.Pro180Ala) c.277+1781C>G (n.277+1781C>G) n.727C>G | |
| 16 | g.3254530G>T | CA394480914 | MEFV | c.538C>A (p.Pro180Thr) c.277+1781C>A (n.277+1781C>A) n.727C>A | |
| 16 | g.3254531G>A | CA493384175 | MEFV | c.537C>T (p.Ser179=) c.277+1780C>T (n.277+1780C>T) n.726C>T | gnomAD v4 |
| 16 | g.3254531G>C | CA394480918 | MEFV | c.537C>G (p.Ser179Arg) c.277+1780C>G (n.277+1780C>G) n.726C>G | |
| 16 | g.3254531G>T | CA394480916 | MEFV | c.537C>A (p.Ser179Arg) c.277+1780C>A (n.277+1780C>A) n.726C>A | gnomAD v4 |
| 16 | g.3254532C>A | CA280620 | MEFV | c.536G>T (p.Ser179Ile) c.277+1779G>T (n.277+1779G>T) n.725G>T | ClinVar dbSNP gnomAD v4 |
| 16 | g.3254532C= | CA2202664851 | MEFV | c.536G= (p.Ser179=) c.277+1779G= (n.277+1779G=) n.725G= | |
| 16 | g.3254532C>G | CA394480923 | MEFV | c.536G>C (p.Ser179Thr) c.277+1779G>C (n.277+1779G>C) n.725G>C | |
| 16 | g.3254532C>T | CA7860402 | MEFV | c.536G>A (p.Ser179Asn) c.277+1779G>A (n.277+1779G>A) n.725G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3254533T>A | CA394480927 | MEFV | c.535A>T (p.Ser179Cys) c.277+1778A>T (n.277+1778A>T) n.724A>T | |
| 16 | g.3254533T>C | CA394480928 | MEFV | c.535A>G (p.Ser179Gly) c.277+1778A>G (n.277+1778A>G) n.724A>G | gnomAD v4 |
| 16 | g.3254533T>G | CA394480929 | MEFV | c.535A>C (p.Ser179Arg) c.277+1778A>C (n.277+1778A>C) n.724A>C | |
| 16 | g.3254534C>A | CA493384182 | MEFV | c.534G>T (p.Arg178=) c.277+1777G>T (n.277+1777G>T) n.723G>T | gnomAD v4 |
| 16 | g.3254534C>G | CA493384183 | MEFV | c.534G>C (p.Arg178=) c.277+1777G>C (n.277+1777G>C) n.723G>C | |
| 16 | g.3254534C>T | CA493384185 | MEFV | c.534G>A (p.Arg178=) c.277+1777G>A (n.277+1777G>A) n.723G>A | |
| 16 | g.3254535C>A | CA394480932 | MEFV | c.533G>T (p.Arg178Leu) c.277+1776G>T (n.277+1776G>T) n.722G>T | gnomAD v4 |
| 16 | g.3254535C= | CA2202664852 | MEFV | c.533G= (p.Arg178=) c.277+1776G= (n.277+1776G=) n.722G= | |
| 16 | g.3254535C>G | CA394480934 | MEFV | c.533G>C (p.Arg178Pro) c.277+1776G>C (n.277+1776G>C) n.722G>C | |
| 16 | g.3254535C>T | CA7860403 | MEFV | c.533G>A (p.Arg178Gln) c.277+1776G>A (n.277+1776G>A) n.722G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3254535_3254536del | CA2956803073 | MEFV | c.532_533del (p.Arg178GlufsTer?) c.277+1775_277+1776del (n.277+1775_277+1776del) n.721_722del | |
| 16 | g.3254536G>A | CA394480937 | MEFV | c.532C>T (p.Arg178Trp) c.277+1775C>T (n.277+1775C>T) n.721C>T | ClinVar dbSNP gnomAD v4 |
| 16 | g.3254536G>C | CA394480939 | MEFV | c.532C>G (p.Arg178Gly) c.277+1775C>G (n.277+1775C>G) n.721C>G | |
| 16 | g.3254536G= | CA2202664853 | MEFV | c.532C= (p.Arg178=) c.277+1775C= (n.277+1775C=) n.721C= | |
| 16 | g.3254536G>T | CA493384186 | MEFV | c.532C>A (p.Arg178=) c.277+1775C>A (n.277+1775C>A) n.721C>A | gnomAD v4 |
| 16 | g.3254537G>A | CA493384193 | MEFV | c.531C>T (p.Thr177=) c.277+1774C>T (n.277+1774C>T) n.720C>T | gnomAD v4 |
| 16 | g.3254537G>C | CA493384194 | MEFV | c.531C>G (p.Thr177=) c.277+1774C>G (n.277+1774C>G) n.720C>G | dbSNP gnomAD v4 |
| 16 | g.3254537G= | CA2202664854 | MEFV | c.531C= (p.Thr177=) c.277+1774C= (n.277+1774C=) n.720C= | |
| 16 | g.3254537G>T | CA493384195 | MEFV | c.531C>A (p.Thr177=) c.277+1774C>A (n.277+1774C>A) n.720C>A | dbSNP gnomAD v4 |
| 16 | g.3254538G>A | CA280618 | MEFV | c.530C>T (p.Thr177Ile) c.277+1773C>T (n.277+1773C>T) n.719C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |