| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3254499_3254523del | CA7860395 | MEFV | c.537_561del (p.Leu182ProfsTer5) c.277+1780_277+1804del (p.=) n.726_750del n.277+1780_277+1804del (p.=) n.537_561del (p.Leu182ProfsTer5) | dbSNP ExAC gnomAD |
| 16 | g.3254526G>A | CA394480892 | MEFV | c.542C>T (p.Ala181Val) c.277+1785C>T (p.=) n.731C>T n.277+1785C>T (p.=) n.542C>T (p.Ala181Val) | |
| 16 | g.3254526G>C | CA394480893 | MEFV | c.542C>G (p.Ala181Gly) c.277+1785C>G (p.=) n.731C>G n.277+1785C>G (p.=) n.542C>G (p.Ala181Gly) | |
| 16 | g.3254526G>T | CA394480895 | MEFV | c.542C>A (p.Ala181Asp) c.277+1785C>A (p.=) n.731C>A n.277+1785C>A (p.=) n.542C>A (p.Ala181Asp) | gnomAD |
| 16 | g.3254527C>A | CA394480898 | MEFV | c.541G>T (p.Ala181Ser) c.277+1784G>T (p.=) n.730G>T n.277+1784G>T (p.=) n.541G>T (p.Ala181Ser) | |
| 16 | g.3254527C>G | CA394480899 | MEFV | c.541G>C (p.Ala181Pro) c.277+1784G>C (p.=) n.730G>C n.277+1784G>C (p.=) n.541G>C (p.Ala181Pro) | |
| 16 | g.3254527C>T | CA394480901 | MEFV | c.541G>A (p.Ala181Thr) c.277+1784G>A (p.=) n.730G>A n.277+1784G>A (p.=) n.541G>A (p.Ala181Thr) | |
| 16 | g.3254528C>A | CA493384170 | MEFV | c.540G>T (p.Pro180=) c.277+1783G>T (p.=) n.729G>T n.277+1783G>T (p.=) n.540G>T (p.Pro180=) | |
| 16 | g.3254528C>G | CA280626 | MEFV | c.540G>C (p.Pro180=) c.277+1783G>C (p.=) n.729G>C n.277+1783G>C (p.=) n.540G>C (p.Pro180=) | ClinVar dbSNP ExAC gnomAD |
| 16 | g.3254528C>T | CA493384169 | MEFV | c.540G>A (p.Pro180=) c.277+1783G>A (p.=) n.729G>A n.277+1783G>A (p.=) n.540G>A (p.Pro180=) | |
| 16 | g.3254529G>A | CA276902697 | MEFV | c.539C>T (p.Pro180Leu) c.277+1782C>T (p.=) n.728C>T n.277+1782C>T (p.=) n.539C>T (p.Pro180Leu) | ClinVar dbSNP gnomAD |
| 16 | g.3254529G>C | CA280623 | MEFV | c.539C>G (p.Pro180Arg) c.277+1782C>G (p.=) n.728C>G n.277+1782C>G (p.=) n.539C>G (p.Pro180Arg) | ClinVar dbSNP ExAC gnomAD |
| 16 | g.3254529G>T | CA10588616 | MEFV | c.539C>A (p.Pro180Gln) c.277+1782C>A (p.=) n.728C>A n.277+1782C>A (p.=) n.539C>A (p.Pro180Gln) | dbSNP gnomAD |
| 16 | g.3254530G>A | CA394480909 | MEFV | c.538C>T (p.Pro180Ser) c.277+1781C>T (p.=) n.727C>T n.277+1781C>T (p.=) n.538C>T (p.Pro180Ser) | |
| 16 | g.3254530G>C | CA394480912 | MEFV | c.538C>G (p.Pro180Ala) c.277+1781C>G (p.=) n.727C>G n.277+1781C>G (p.=) n.538C>G (p.Pro180Ala) | |
| 16 | g.3254530G>T | CA394480914 | MEFV | c.538C>A (p.Pro180Thr) c.277+1781C>A (p.=) n.727C>A n.277+1781C>A (p.=) n.538C>A (p.Pro180Thr) | |
| 16 | g.3254531G>A | CA493384175 | MEFV | c.537C>T (p.Ser179=) c.277+1780C>T (p.=) n.726C>T n.277+1780C>T (p.=) n.537C>T (p.Ser179=) | |
| 16 | g.3254531G>C | CA394480918 | MEFV | c.537C>G (p.Ser179Arg) c.277+1780C>G (p.=) n.726C>G n.277+1780C>G (p.=) n.537C>G (p.Ser179Arg) | |
| 16 | g.3254531G>T | CA394480916 | MEFV | c.537C>A (p.Ser179Arg) c.277+1780C>A (p.=) n.726C>A n.277+1780C>A (p.=) n.537C>A (p.Ser179Arg) | |
| 16 | g.3254532C>A | CA280620 | MEFV | c.536G>T (p.Ser179Ile) c.277+1779G>T (p.=) n.725G>T n.277+1779G>T (p.=) n.536G>T (p.Ser179Ile) | ClinVar dbSNP |
| 16 | g.3254532C>G | CA394480923 | MEFV | c.536G>C (p.Ser179Thr) c.277+1779G>C (p.=) n.725G>C n.277+1779G>C (p.=) n.536G>C (p.Ser179Thr) | |
| 16 | g.3254532C>T | CA7860402 | MEFV | c.536G>A (p.Ser179Asn) c.277+1779G>A (p.=) n.725G>A n.277+1779G>A (p.=) n.536G>A (p.Ser179Asn) | ClinVar dbSNP ExAC gnomAD |
| 16 | g.3254533T>A | CA394480927 | MEFV | c.535A>T (p.Ser179Cys) c.277+1778A>T (p.=) n.724A>T n.277+1778A>T (p.=) n.535A>T (p.Ser179Cys) | |
| 16 | g.3254533T>C | CA394480928 | MEFV | c.535A>G (p.Ser179Gly) c.277+1778A>G (p.=) n.724A>G n.277+1778A>G (p.=) n.535A>G (p.Ser179Gly) | |
| 16 | g.3254533T>G | CA394480929 | MEFV | c.535A>C (p.Ser179Arg) c.277+1778A>C (p.=) n.724A>C n.277+1778A>C (p.=) n.535A>C (p.Ser179Arg) | |
| 16 | g.3254534C>A | CA493384182 | MEFV | c.534G>T (p.Arg178=) c.277+1777G>T (p.=) n.723G>T n.277+1777G>T (p.=) n.534G>T (p.Arg178=) | |
| 16 | g.3254534C>G | CA493384183 | MEFV | c.534G>C (p.Arg178=) c.277+1777G>C (p.=) n.723G>C n.277+1777G>C (p.=) n.534G>C (p.Arg178=) | |
| 16 | g.3254534C>T | CA493384185 | MEFV | c.534G>A (p.Arg178=) c.277+1777G>A (p.=) n.723G>A n.277+1777G>A (p.=) n.534G>A (p.Arg178=) | |
| 16 | g.3254535C>A | CA394480932 | MEFV | c.533G>T (p.Arg178Leu) c.277+1776G>T (p.=) n.722G>T n.277+1776G>T (p.=) n.533G>T (p.Arg178Leu) | |
| 16 | g.3254535C>G | CA394480934 | MEFV | c.533G>C (p.Arg178Pro) c.277+1776G>C (p.=) n.722G>C n.277+1776G>C (p.=) n.533G>C (p.Arg178Pro) | |
| 16 | g.3254535C>T | CA7860403 | MEFV | c.533G>A (p.Arg178Gln) c.277+1776G>A (p.=) n.722G>A n.277+1776G>A (p.=) n.533G>A (p.Arg178Gln) | dbSNP ExAC gnomAD |
| 16 | g.3254536G>A | CA394480937 | MEFV | c.532C>T (p.Arg178Trp) c.277+1775C>T (p.=) n.721C>T n.277+1775C>T (p.=) n.532C>T (p.Arg178Trp) | ClinVar |
| 16 | g.3254536G>C | CA394480939 | MEFV | c.532C>G (p.Arg178Gly) c.277+1775C>G (p.=) n.721C>G n.277+1775C>G (p.=) n.532C>G (p.Arg178Gly) | |
| 16 | g.3254536G>T | CA493384186 | MEFV | c.532C>A (p.Arg178=) c.277+1775C>A (p.=) n.721C>A n.277+1775C>A (p.=) n.532C>A (p.Arg178=) | |
| 16 | g.3254537G>A | CA493384193 | MEFV | c.531C>T (p.Thr177=) c.277+1774C>T (p.=) n.720C>T n.277+1774C>T (p.=) n.531C>T (p.Thr177=) | |
| 16 | g.3254537G>C | CA493384194 | MEFV | c.531C>G (p.Thr177=) c.277+1774C>G (p.=) n.720C>G n.277+1774C>G (p.=) n.531C>G (p.Thr177=) | |
| 16 | g.3254537G>T | CA493384195 | MEFV | c.531C>A (p.Thr177=) c.277+1774C>A (p.=) n.720C>A n.277+1774C>A (p.=) n.531C>A (p.Thr177=) | |
| 16 | g.3254538G>A | CA280618 | MEFV | c.530C>T (p.Thr177Ile) c.277+1773C>T (p.=) n.719C>T n.277+1773C>T (p.=) n.530C>T (p.Thr177Ile) | ClinVar dbSNP gnomAD |
| 16 | g.3254538G>C | CA394480942 | MEFV | c.530C>G (p.Thr177Ser) c.277+1773C>G (p.=) n.719C>G n.277+1773C>G (p.=) n.530C>G (p.Thr177Ser) | |
| 16 | g.3254538G>T | CA394480944 | MEFV | c.530C>A (p.Thr177Asn) c.277+1773C>A (p.=) n.719C>A n.277+1773C>A (p.=) n.530C>A (p.Thr177Asn) | |
| 16 | g.3254539T>A | CA394480951 | MEFV | c.529A>T (p.Thr177Ser) c.277+1772A>T (p.=) n.718A>T n.277+1772A>T (p.=) n.529A>T (p.Thr177Ser) | |
| 16 | g.3254539T>C | CA394480949 | MEFV | c.529A>G (p.Thr177Ala) c.277+1772A>G (p.=) n.718A>G n.277+1772A>G (p.=) n.529A>G (p.Thr177Ala) | |
| 16 | g.3254539T>G | CA394480947 | MEFV | c.529A>C (p.Thr177Pro) c.277+1772A>C (p.=) n.718A>C n.277+1772A>C (p.=) n.529A>C (p.Thr177Pro) | |
| 16 | g.3254539dup | CA620713359 | MEFV | c.529dup (p.Thr177AsnfsTer?) c.277+1772dup (p.=) n.718dup n.277+1772dup (p.=) n.529dup (p.Thr177AsnfsTer?) | dbSNP gnomAD |
| 16 | g.3254540C>A | CA493384199 | MEFV | c.528G>T (p.Arg176=) c.277+1771G>T (p.=) n.717G>T n.277+1771G>T (p.=) n.528G>T (p.Arg176=) | |
| 16 | g.3254540C>G | CA493384201 | MEFV | c.528G>C (p.Arg176=) c.277+1771G>C (p.=) n.717G>C n.277+1771G>C (p.=) n.528G>C (p.Arg176=) | |
| 16 | g.3254540C>T | CA493384203 | MEFV | c.528G>A (p.Arg176=) c.277+1771G>A (p.=) n.717G>A n.277+1771G>A (p.=) n.528G>A (p.Arg176=) | gnomAD |
| 16 | g.3254540del | CA620713360 | MEFV | c.527del (p.Thr177ProfsTer18) c.277+1770del (p.=) n.716del n.277+1770del (p.=) n.527del (p.Thr177ProfsTer18) | dbSNP gnomAD |
| 16 | g.3254541C>A | CA394480956 | MEFV | c.527G>T (p.Arg176Leu) c.277+1770G>T (p.=) n.716G>T n.277+1770G>T (p.=) n.527G>T (p.Arg176Leu) | |
| 16 | g.3254541C>G | CA394480953 | MEFV | c.527G>C (p.Arg176Pro) c.277+1770G>C (p.=) n.716G>C n.277+1770G>C (p.=) n.527G>C (p.Arg176Pro) |