| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.99594765G>A | CA357505708 | MTTP | c.791G>A (p.Gly264Asp) c.542G>A (p.Gly181Asp) c.872G>A (p.Gly291Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99594765G>C | CA357505709 | MTTP | c.791G>C (p.Gly264Ala) c.542G>C (p.Gly181Ala) c.872G>C (p.Gly291Ala) | |
| 4 | g.99594765G= | CA1480076899 | MTTP | c.791G= (p.Gly264=) c.542G= (p.Gly181=) c.872G= (p.Gly291=) | |
| 4 | g.99594765G>T | CA357505710 | MTTP | c.791G>T (p.Gly264Val) c.542G>T (p.Gly181Val) c.872G>T (p.Gly291Val) | |
| 4 | g.99594766C>A | CA440329180 | MTTP | c.792C>A (p.Gly264=) c.543C>A (p.Gly181=) c.873C>A (p.Gly291=) | |
| 4 | g.99594766C>G | CA440329181 | MTTP | c.792C>G (p.Gly264=) c.543C>G (p.Gly181=) c.873C>G (p.Gly291=) | |
| 4 | g.99594766C>T | CA440329182 | MTTP | c.792C>T (p.Gly264=) c.543C>T (p.Gly181=) c.873C>T (p.Gly291=) | ClinVar |
| 4 | g.99594767C>A | CA357505711 | MTTP | c.793C>A (p.Pro265Thr) c.544C>A (p.Pro182Thr) c.874C>A (p.Pro292Thr) | |
| 4 | g.99594767C>G | CA357505712 | MTTP | c.793C>G (p.Pro265Ala) c.544C>G (p.Pro182Ala) c.874C>G (p.Pro292Ala) | |
| 4 | g.99594767C>T | CA357505713 | MTTP | c.793C>T (p.Pro265Ser) c.544C>T (p.Pro182Ser) c.874C>T (p.Pro292Ser) | |
| 4 | g.99594768C>A | CA357505714 | MTTP | c.794C>A (p.Pro265Gln) c.545C>A (p.Pro182Gln) c.875C>A (p.Pro292Gln) | |
| 4 | g.99594768C>G | CA357505715 | MTTP | c.794C>G (p.Pro265Arg) c.545C>G (p.Pro182Arg) c.875C>G (p.Pro292Arg) | |
| 4 | g.99594768C>T | CA357505716 | MTTP | c.794C>T (p.Pro265Leu) c.545C>T (p.Pro182Leu) c.875C>T (p.Pro292Leu) | gnomAD v4 |
| 4 | g.99594769A= | CA1480076900 | MTTP | c.795A= (p.Pro265=) c.546A= (p.Pro182=) c.876A= (p.Pro292=) | |
| 4 | g.99594769A>C | CA440329185 | MTTP | c.795A>C (p.Pro265=) c.546A>C (p.Pro182=) c.876A>C (p.Pro292=) | |
| 4 | g.99594769A>G | CA440329184 | MTTP | c.795A>G (p.Pro265=) c.546A>G (p.Pro182=) c.876A>G (p.Pro292=) | dbSNP gnomAD v4 |
| 4 | g.99594769A>T | CA440329183 | MTTP | c.795A>T (p.Pro265=) c.546A>T (p.Pro182=) c.876A>T (p.Pro292=) | |
| 4 | g.99594770A>C | CA440329186 | MTTP | c.796A>C (p.Arg266=) c.547A>C (p.Arg183=) c.877A>C (p.Arg293=) | |
| 4 | g.99594770A>G | CA357505717 | MTTP | c.796A>G (p.Arg266Gly) c.547A>G (p.Arg183Gly) c.877A>G (p.Arg293Gly) | |
| 4 | g.99594770A>T | CA357505718 | MTTP | c.796A>T (p.Arg266Ter) c.547A>T (p.Arg183Ter) c.877A>T (p.Arg293Ter) | |
| 4 | g.99594771G>A | CA357505719 | MTTP | c.797G>A (p.Arg266Lys) c.548G>A (p.Arg183Lys) c.878G>A (p.Arg293Lys) | dbSNP gnomAD v4 |
| 4 | g.99594771G>C | CA357505721 | MTTP | c.797G>C (p.Arg266Thr) c.548G>C (p.Arg183Thr) c.878G>C (p.Arg293Thr) | |
| 4 | g.99594771G= | CA1480076901 | MTTP | c.797G= (p.Arg266=) c.548G= (p.Arg183=) c.878G= (p.Arg293=) | |
| 4 | g.99594771G>T | CA357505720 | MTTP | c.797G>T (p.Arg266Ile) c.548G>T (p.Arg183Ile) c.878G>T (p.Arg293Ile) | |
| 4 | g.99594772A>C | CA357505722 | MTTP | c.798A>C (p.Arg266Ser) c.549A>C (p.Arg183Ser) c.879A>C (p.Arg293Ser) | |
| 4 | g.99594772A>G | CA440329187 | MTTP | c.798A>G (p.Arg266=) c.549A>G (p.Arg183=) c.879A>G (p.Arg293=) | |
| 4 | g.99594772A>T | CA357505723 | MTTP | c.798A>T (p.Arg266Ser) c.549A>T (p.Arg183Ser) c.879A>T (p.Arg293Ser) | |
| 4 | g.99594773T>A | CA357505724 | MTTP | c.799T>A (p.Leu267Met) c.550T>A (p.Leu184Met) c.880T>A (p.Leu294Met) | |
| 4 | g.99594773T>C | CA3021953 | MTTP | c.799T>C (p.Leu267=) c.550T>C (p.Leu184=) c.880T>C (p.Leu294=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99594773T>G | CA357505725 | MTTP | c.799T>G (p.Leu267Val) c.550T>G (p.Leu184Val) c.880T>G (p.Leu294Val) | |
| 4 | g.99594773T= | CA1480076902 | MTTP | c.799T= (p.Leu267=) c.550T= (p.Leu184=) c.880T= (p.Leu294=) | |
| 4 | g.99594774T>A | CA357505726 | MTTP | c.800T>A (p.Leu267Ter) c.551T>A (p.Leu184Ter) c.881T>A (p.Leu294Ter) | |
| 4 | g.99594774T>C | CA357505727 | MTTP | c.800T>C (p.Leu267Ser) c.551T>C (p.Leu184Ser) c.881T>C (p.Leu294Ser) | gnomAD v4 |
| 4 | g.99594774T>G | CA357505728 | MTTP | c.800T>G (p.Leu267Trp) c.551T>G (p.Leu184Trp) c.881T>G (p.Leu294Trp) | |
| 4 | g.99594775G>A | CA440329188 | MTTP | c.801G>A (p.Leu267=) c.552G>A (p.Leu184=) c.882G>A (p.Leu294=) | |
| 4 | g.99594775G>C | CA357505729 | MTTP | c.801G>C (p.Leu267Phe) c.552G>C (p.Leu184Phe) c.882G>C (p.Leu294Phe) | |
| 4 | g.99594775G>T | CA357505730 | MTTP | c.801G>T (p.Leu267Phe) c.552G>T (p.Leu184Phe) c.882G>T (p.Leu294Phe) | |
| 4 | g.99594776A>C | CA357505731 | MTTP | c.802A>C (p.Met268Leu) c.553A>C (p.Met185Leu) c.883A>C (p.Met295Leu) | |
| 4 | g.99594776A>G | CA357505732 | MTTP | c.802A>G (p.Met268Val) c.553A>G (p.Met185Val) c.883A>G (p.Met295Val) | gnomAD v4 |
| 4 | g.99594776A>T | CA357505733 | MTTP | c.802A>T (p.Met268Leu) c.553A>T (p.Met185Leu) c.883A>T (p.Met295Leu) | |
| 4 | g.99594777T>A | CA357505735 | MTTP | c.803T>A (p.Met268Lys) c.554T>A (p.Met185Lys) c.884T>A (p.Met295Lys) | |
| 4 | g.99594777T>C | CA3021954 | MTTP | c.803T>C (p.Met268Thr) c.554T>C (p.Met185Thr) c.884T>C (p.Met295Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.99594777T>G | CA357505734 | MTTP | c.803T>G (p.Met268Arg) c.554T>G (p.Met185Arg) c.884T>G (p.Met295Arg) | |
| 4 | g.99594777T= | CA1480076903 | MTTP | c.803T= (p.Met268=) c.554T= (p.Met185=) c.884T= (p.Met295=) | |
| 4 | g.99594778G>A | CA357505736 | MTTP | c.804G>A (p.Met268Ile) c.555G>A (p.Met185Ile) c.885G>A (p.Met295Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.99594778G>C | CA357505737 | MTTP | c.804G>C (p.Met268Ile) c.555G>C (p.Met185Ile) c.885G>C (p.Met295Ile) | |
| 4 | g.99594778G= | CA1480076904 | MTTP | c.804G= (p.Met268=) c.555G= (p.Met185=) c.885G= (p.Met295=) | |
| 4 | g.99594778G>T | CA357505738 | MTTP | c.804G>T (p.Met268Ile) c.555G>T (p.Met185Ile) c.885G>T (p.Met295Ile) | gnomAD v4 |
| 4 | g.99594779T>A | CA357505739 | MTTP | c.805T>A (p.Ser269Thr) c.556T>A (p.Ser186Thr) c.886T>A (p.Ser296Thr) | |
| 4 | g.99594779T>C | CA357505740 | MTTP | c.805T>C (p.Ser269Pro) c.556T>C (p.Ser186Pro) c.886T>C (p.Ser296Pro) | gnomAD v4 |