| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.99622749_99622772del | CA645520133 | MTTP | c.2586_2609del (p.Leu863_Leu870del) c.2337_2360del (p.Leu780_Leu787del) c.2667_2690del (p.Leu890_Leu897del) c.*1033_*1056del (n.*1033_*1056del) | COSMIC |
| 4 | g.99622756G>A | CA357520402 | MTTP | c.2593G>A (p.Gly865Arg) c.2344G>A (p.Gly782Arg) c.2674G>A (p.Gly892Arg) c.*1040G>A (n.*1040G>A) | COSMIC |
| 4 | g.99622756G>C | CA357520404 | MTTP | c.2593G>C (p.Gly865Arg) c.2344G>C (p.Gly782Arg) c.2674G>C (p.Gly892Arg) c.*1040G>C (n.*1040G>C) | |
| 4 | g.99622756G= | CA1480087971 | MTTP | c.2593G= (p.Gly865=) c.2344G= (p.Gly782=) c.2674G= (p.Gly892=) c.*1040G= (n.*1040G=) | |
| 4 | g.99622756G>T | CA123825 | MTTP | c.2593G>T (p.Gly865Ter) c.2344G>T (p.Gly782Ter) c.2674G>T (p.Gly892Ter) c.*1040G>T (n.*1040G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99622757G>A | CA357520407 | MTTP | c.2594G>A (p.Gly865Glu) c.2345G>A (p.Gly782Glu) c.2675G>A (p.Gly892Glu) c.*1041G>A (n.*1041G>A) | gnomAD v4 |
| 4 | g.99622757G>C | CA357520410 | MTTP | c.2594G>C (p.Gly865Ala) c.2345G>C (p.Gly782Ala) c.2675G>C (p.Gly892Ala) c.*1041G>C (n.*1041G>C) | |
| 4 | g.99622757G>T | CA357520411 | MTTP | c.2594G>T (p.Gly865Val) c.2345G>T (p.Gly782Val) c.2675G>T (p.Gly892Val) c.*1041G>T (n.*1041G>T) | |
| 4 | g.99622758A>C | CA440333095 | MTTP | c.2595A>C (p.Gly865=) c.2346A>C (p.Gly782=) c.2676A>C (p.Gly892=) c.*1042A>C (n.*1042A>C) | |
| 4 | g.99622758A>G | CA440333097 | MTTP | c.2595A>G (p.Gly865=) c.2346A>G (p.Gly782=) c.2676A>G (p.Gly892=) c.*1042A>G (n.*1042A>G) | |
| 4 | g.99622758A>T | CA440333099 | MTTP | c.2595A>T (p.Gly865=) c.2346A>T (p.Gly782=) c.2676A>T (p.Gly892=) c.*1042A>T (n.*1042A>T) | ClinVar |
| 4 | g.99622759T>A | CA357520419 | MTTP | c.2596T>A (p.Cys866Ser) c.2347T>A (p.Cys783Ser) c.2677T>A (p.Cys893Ser) c.*1043T>A (n.*1043T>A) | |
| 4 | g.99622759T>C | CA357520417 | MTTP | c.2596T>C (p.Cys866Arg) c.2347T>C (p.Cys783Arg) c.2677T>C (p.Cys893Arg) c.*1043T>C (n.*1043T>C) | |
| 4 | g.99622759T>G | CA357520415 | MTTP | c.2596T>G (p.Cys866Gly) c.2347T>G (p.Cys783Gly) c.2677T>G (p.Cys893Gly) c.*1043T>G (n.*1043T>G) | |
| 4 | g.99622760G>A | CA357520421 | MTTP | c.2597G>A (p.Cys866Tyr) c.2348G>A (p.Cys783Tyr) c.2678G>A (p.Cys893Tyr) c.*1044G>A (n.*1044G>A) | gnomAD v4 |
| 4 | g.99622760G>C | CA357520422 | MTTP | c.2597G>C (p.Cys866Ser) c.2348G>C (p.Cys783Ser) c.2678G>C (p.Cys893Ser) c.*1044G>C (n.*1044G>C) | |
| 4 | g.99622760G>T | CA357520425 | MTTP | c.2597G>T (p.Cys866Phe) c.2348G>T (p.Cys783Phe) c.2678G>T (p.Cys893Phe) c.*1044G>T (n.*1044G>T) | |
| 4 | g.99622761T>A | CA357520426 | MTTP | c.2598T>A (p.Cys866Ter) c.2349T>A (p.Cys783Ter) c.2679T>A (p.Cys893Ter) c.*1045T>A (n.*1045T>A) | |
| 4 | g.99622761T>C | CA440333114 | MTTP | c.2598T>C (p.Cys866=) c.2349T>C (p.Cys783=) c.2679T>C (p.Cys893=) c.*1045T>C (n.*1045T>C) | |
| 4 | g.99622761T>G | CA357520427 | MTTP | c.2598T>G (p.Cys866Trp) c.2349T>G (p.Cys783Trp) c.2679T>G (p.Cys893Trp) c.*1045T>G (n.*1045T>G) | |
| 4 | g.99622762G>A | CA357520429 | MTTP | c.2599G>A (p.Glu867Lys) c.2350G>A (p.Glu784Lys) c.2680G>A (p.Glu894Lys) c.*1046G>A (n.*1046G>A) | |
| 4 | g.99622762G>C | CA357520430 | MTTP | c.2599G>C (p.Glu867Gln) c.2350G>C (p.Glu784Gln) c.2680G>C (p.Glu894Gln) c.*1046G>C (n.*1046G>C) | dbSNP |
| 4 | g.99622762G= | CA1480087972 | MTTP | c.2599G= (p.Glu867=) c.2350G= (p.Glu784=) c.2680G= (p.Glu894=) c.*1046G= (n.*1046G=) | |
| 4 | g.99622762G>T | CA357520432 | MTTP | c.2599G>T (p.Glu867Ter) c.2350G>T (p.Glu784Ter) c.2680G>T (p.Glu894Ter) c.*1046G>T (n.*1046G>T) | |
| 4 | g.99622763A>C | CA357520433 | MTTP | c.2600A>C (p.Glu867Ala) c.2351A>C (p.Glu784Ala) c.2681A>C (p.Glu894Ala) c.*1047A>C (n.*1047A>C) | |
| 4 | g.99622763A>G | CA357520435 | MTTP | c.2600A>G (p.Glu867Gly) c.2351A>G (p.Glu784Gly) c.2681A>G (p.Glu894Gly) c.*1047A>G (n.*1047A>G) | |
| 4 | g.99622763A>T | CA357520434 | MTTP | c.2600A>T (p.Glu867Val) c.2351A>T (p.Glu784Val) c.2681A>T (p.Glu894Val) c.*1047A>T (n.*1047A>T) | |
| 4 | g.99622764A>C | CA357520437 | MTTP | c.2601A>C (p.Glu867Asp) c.2352A>C (p.Glu784Asp) c.2682A>C (p.Glu894Asp) c.*1048A>C (n.*1048A>C) | |
| 4 | g.99622764A>G | CA440333125 | MTTP | c.2601A>G (p.Glu867=) c.2352A>G (p.Glu784=) c.2682A>G (p.Glu894=) c.*1048A>G (n.*1048A>G) | gnomAD v4 |
| 4 | g.99622764A>T | CA357520439 | MTTP | c.2601A>T (p.Glu867Asp) c.2352A>T (p.Glu784Asp) c.2682A>T (p.Glu894Asp) c.*1048A>T (n.*1048A>T) | |
| 4 | g.99622765T>A | CA357520441 | MTTP | c.2602T>A (p.Phe868Ile) c.2353T>A (p.Phe785Ile) c.2683T>A (p.Phe895Ile) c.*1049T>A (n.*1049T>A) | |
| 4 | g.99622765T>C | CA357520442 | MTTP | c.2602T>C (p.Phe868Leu) c.2353T>C (p.Phe785Leu) c.2683T>C (p.Phe895Leu) c.*1049T>C (n.*1049T>C) | |
| 4 | g.99622765T>G | CA357520443 | MTTP | c.2602T>G (p.Phe868Val) c.2353T>G (p.Phe785Val) c.2683T>G (p.Phe895Val) c.*1049T>G (n.*1049T>G) | |
| 4 | g.99622766T>A | CA357520445 | MTTP | c.2603T>A (p.Phe868Tyr) c.2354T>A (p.Phe785Tyr) c.2684T>A (p.Phe895Tyr) c.*1050T>A (n.*1050T>A) | |
| 4 | g.99622766T>C | CA357520448 | MTTP | c.2603T>C (p.Phe868Ser) c.2354T>C (p.Phe785Ser) c.2684T>C (p.Phe895Ser) c.*1050T>C (n.*1050T>C) | |
| 4 | g.99622766T>G | CA357520447 | MTTP | c.2603T>G (p.Phe868Cys) c.2354T>G (p.Phe785Cys) c.2684T>G (p.Phe895Cys) c.*1050T>G (n.*1050T>G) | |
| 4 | g.99622767C>A | CA357520450 | MTTP | c.2604C>A (p.Phe868Leu) c.2355C>A (p.Phe785Leu) c.2685C>A (p.Phe895Leu) c.*1051C>A (n.*1051C>A) | |
| 4 | g.99622767C>G | CA357520453 | MTTP | c.2604C>G (p.Phe868Leu) c.2355C>G (p.Phe785Leu) c.2685C>G (p.Phe895Leu) c.*1051C>G (n.*1051C>G) | |
| 4 | g.99622767C>T | CA440333143 | MTTP | c.2604C>T (p.Phe868=) c.2355C>T (p.Phe785=) c.2685C>T (p.Phe895=) c.*1051C>T (n.*1051C>T) | |
| 4 | g.99622768C>A | CA3022411 | MTTP | c.2605C>A (p.Pro869Thr) c.2356C>A (p.Pro786Thr) c.2686C>A (p.Pro896Thr) c.*1052C>A (n.*1052C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.99622768C= | CA1480087973 | MTTP | c.2605C= (p.Pro869=) c.2356C= (p.Pro786=) c.2686C= (p.Pro896=) c.*1052C= (n.*1052C=) | |
| 4 | g.99622768C>G | CA357520456 | MTTP | c.2605C>G (p.Pro869Ala) c.2356C>G (p.Pro786Ala) c.2686C>G (p.Pro896Ala) c.*1052C>G (n.*1052C>G) | |
| 4 | g.99622768C>T | CA357520457 | MTTP | c.2605C>T (p.Pro869Ser) c.2356C>T (p.Pro786Ser) c.2686C>T (p.Pro896Ser) c.*1052C>T (n.*1052C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.99622769C>A | CA3022412 | MTTP | c.2606C>A (p.Pro869Gln) c.2357C>A (p.Pro786Gln) c.2687C>A (p.Pro896Gln) c.*1053C>A (n.*1053C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.99622769C= | CA1480087974 | MTTP | c.2606C= (p.Pro869=) c.2357C= (p.Pro786=) c.2687C= (p.Pro896=) c.*1053C= (n.*1053C=) | |
| 4 | g.99622769C>G | CA357520460 | MTTP | c.2606C>G (p.Pro869Arg) c.2357C>G (p.Pro786Arg) c.2687C>G (p.Pro896Arg) c.*1053C>G (n.*1053C>G) | |
| 4 | g.99622769C>T | CA357520462 | MTTP | c.2606C>T (p.Pro869Leu) c.2357C>T (p.Pro786Leu) c.2687C>T (p.Pro896Leu) c.*1053C>T (n.*1053C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.99622769_99622770delinsTT | CA645520134 | MTTP | c.2606_2607delinsTT (p.Pro869Leu) c.2357_2358delinsTT (p.Pro786Leu) c.2687_2688delinsTT (p.Pro896Leu) c.*1053_*1054delinsTT (n.*1053_*1054delinsTT) | COSMIC |
| 4 | g.99622770G>A | CA3022413 | MTTP | c.2607G>A (p.Pro869=) c.2358G>A (p.Pro786=) c.2688G>A (p.Pro896=) c.*1054G>A (n.*1054G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99622770G>C | CA440333158 | MTTP | c.2607G>C (p.Pro869=) c.2358G>C (p.Pro786=) c.2688G>C (p.Pro896=) c.*1054G>C (n.*1054G>C) |