UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.99622754_99622756del | CA2762808581 | MTTP | c.2591_2593del (p.Ala864del) c.2342_2344del (p.Ala781del) c.2672_2674del (p.Ala891del) c.*1038_*1040del (n.*1038_*1040del) | |
| 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) | |
| 4 | g.99622770G= | CA1480087975 | MTTP | c.2607G= (p.Pro869=) c.2358G= (p.Pro786=) c.2688G= (p.Pro896=) c.*1054G= (n.*1054G=) | |
| 4 | g.99622770G>T | CA440333156 | MTTP | c.2607G>T (p.Pro869=) c.2358G>T (p.Pro786=) c.2688G>T (p.Pro896=) c.*1054G>T (n.*1054G>T) | |
| 4 | g.99622771C>A | CA357520465 | MTTP | c.2608C>A (p.Leu870Ile) c.2359C>A (p.Leu787Ile) c.2689C>A (p.Leu897Ile) c.*1055C>A (n.*1055C>A) | |
| 4 | g.99622771C>G | CA357520467 | MTTP | c.2608C>G (p.Leu870Val) c.2359C>G (p.Leu787Val) c.2689C>G (p.Leu897Val) c.*1055C>G (n.*1055C>G) | |
| 4 | g.99622771C>T | CA357520469 | MTTP | c.2608C>T (p.Leu870Phe) c.2359C>T (p.Leu787Phe) c.2689C>T (p.Leu897Phe) c.*1055C>T (n.*1055C>T) | gnomAD v4 |
| 4 | g.99622772T>A | CA357520471 | MTTP | c.2609T>A (p.Leu870His) c.2360T>A (p.Leu787His) c.2690T>A (p.Leu897His) c.*1056T>A (n.*1056T>A) | |
| 4 | g.99622772T>C | CA357520473 | MTTP | c.2609T>C (p.Leu870Pro) c.2360T>C (p.Leu787Pro) c.2690T>C (p.Leu897Pro) c.*1056T>C (n.*1056T>C) | |
| 4 | g.99622772T>G | CA357520472 | MTTP | c.2609T>G (p.Leu870Arg) c.2360T>G (p.Leu787Arg) c.2690T>G (p.Leu897Arg) c.*1056T>G (n.*1056T>G) | |
| 4 | g.99622773C>A | CA440333173 | MTTP | c.2610C>A (p.Leu870=) c.2361C>A (p.Leu787=) c.2691C>A (p.Leu897=) c.*1057C>A (n.*1057C>A) | ClinVar dbSNP |
| 4 | g.99622773C= | CA1480087976 | MTTP | c.2610C= (p.Leu870=) c.2361C= (p.Leu787=) c.2691C= (p.Leu897=) c.*1057C= (n.*1057C=) | |
| 4 | g.99622773C>G | CA440333172 | MTTP | c.2610C>G (p.Leu870=) c.2361C>G (p.Leu787=) c.2691C>G (p.Leu897=) c.*1057C>G (n.*1057C>G) | |
| 4 | g.99622773C>T | CA440333171 | MTTP | c.2610C>T (p.Leu870=) c.2361C>T (p.Leu787=) c.2691C>T (p.Leu897=) c.*1057C>T (n.*1057C>T) | |
| 4 | g.99622774del | CA2695203670 | MTTP | c.2611del (p.His871IlefsTer29) c.2362del (p.His788IlefsTer29) c.2692del (p.His898IlefsTer29) c.*1058del (n.*1058del) | |
| 4 | g.99622774C>A | CA357520475 | MTTP | c.2611C>A (p.His871Asn) c.2362C>A (p.His788Asn) c.2692C>A (p.His898Asn) c.*1058C>A (n.*1058C>A) | |
| 4 | g.99622774C= | CA1480087977 | MTTP | c.2611C= (p.His871=) c.2362C= (p.His788=) c.2692C= (p.His898=) c.*1058C= (n.*1058C=) | |
| 4 | g.99622774C>G | CA357520477 | MTTP | c.2611C>G (p.His871Asp) c.2362C>G (p.His788Asp) c.2692C>G (p.His898Asp) c.*1058C>G (n.*1058C>G) | |
| 4 | g.99622774C>T | CA3022414 | MTTP | c.2611C>T (p.His871Tyr) c.2362C>T (p.His788Tyr) c.2692C>T (p.His898Tyr) c.*1058C>T (n.*1058C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.99622775A= | CA1480087978 | MTTP | c.2612A= (p.His871=) c.2363A= (p.His788=) c.2693A= (p.His898=) c.*1059A= (n.*1059A=) | |
| 4 | g.99622775A>C | CA357520479 | MTTP | c.2612A>C (p.His871Pro) c.2363A>C (p.His788Pro) c.2693A>C (p.His898Pro) c.*1059A>C (n.*1059A>C) | gnomAD v4 |
| 4 | g.99622775A>G | CA357520481 | MTTP | c.2612A>G (p.His871Arg) c.2363A>G (p.His788Arg) c.2693A>G (p.His898Arg) c.*1059A>G (n.*1059A>G) | |
| 4 | g.99622775A>T | CA3022415 | MTTP | c.2612A>T (p.His871Leu) c.2363A>T (p.His788Leu) c.2693A>T (p.His898Leu) c.*1059A>T (n.*1059A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.99622775_99622776insG | CA1480087979 | MTTP | c.2612_2613insG (p.His871GlnfsTer18) c.2363_2364insG (p.His788GlnfsTer18) c.2693_2694insG (p.His898GlnfsTer18) c.*1059_*1060insG (n.*1059_*1060insG) | dbSNP |
| 4 | g.99622776T>A | CA357520484 | MTTP | c.2613T>A (p.His871Gln) c.2364T>A (p.His788Gln) c.2694T>A (p.His898Gln) c.*1060T>A (n.*1060T>A) | |
| 4 | g.99622776T>C | CA440333187 | MTTP | c.2613T>C (p.His871=) c.2364T>C (p.His788=) c.2694T>C (p.His898=) c.*1060T>C (n.*1060T>C) | dbSNP |
| 4 | g.99622776T>G | CA357520483 | MTTP | c.2613T>G (p.His871Gln) c.2364T>G (p.His788Gln) c.2694T>G (p.His898Gln) c.*1060T>G (n.*1060T>G) | |
| 4 | g.99622776T= | CA1480087980 | MTTP | c.2613T= (p.His871=) c.2364T= (p.His788=) c.2694T= (p.His898=) c.*1060T= (n.*1060T=) | |
| 4 | g.99622777C>A | CA357520486 | MTTP | c.2614C>A (p.Gln872Lys) c.2365C>A (p.Gln789Lys) c.2695C>A (p.Gln899Lys) c.*1061C>A (n.*1061C>A) | |
| 4 | g.99622777C>G | CA357520487 | MTTP | c.2614C>G (p.Gln872Glu) c.2365C>G (p.Gln789Glu) c.2695C>G (p.Gln899Glu) c.*1061C>G (n.*1061C>G) | |
| 4 | g.99622777C>T | CA357520488 | MTTP | c.2614C>T (p.Gln872Ter) c.2365C>T (p.Gln789Ter) c.2695C>T (p.Gln899Ter) c.*1061C>T (n.*1061C>T) | |
| 4 | g.99622778A>C | CA357520490 | MTTP | c.2615A>C (p.Gln872Pro) c.2366A>C (p.Gln789Pro) c.2696A>C (p.Gln899Pro) c.*1062A>C (n.*1062A>C) | |
| 4 | g.99622778A>G | CA357520491 | MTTP | c.2615A>G (p.Gln872Arg) c.2366A>G (p.Gln789Arg) c.2696A>G (p.Gln899Arg) c.*1062A>G (n.*1062A>G) | |
| 4 | g.99622778A>T | CA357520493 | MTTP | c.2615A>T (p.Gln872Leu) c.2366A>T (p.Gln789Leu) c.2696A>T (p.Gln899Leu) c.*1062A>T (n.*1062A>T) | COSMIC |
| 4 | g.99622779A= | CA1480087981 | MTTP | c.2616A= (p.Gln872=) c.2367A= (p.Gln789=) c.2697A= (p.Gln899=) c.*1063A= (n.*1063A=) | |
| 4 | g.99622779A>C | CA357520495 | MTTP | c.2616A>C (p.Gln872His) c.2367A>C (p.Gln789His) c.2697A>C (p.Gln899His) c.*1063A>C (n.*1063A>C) | |
| 4 | g.99622779A>G | CA3022416 | MTTP | c.2616A>G (p.Gln872=) c.2367A>G (p.Gln789=) c.2697A>G (p.Gln899=) c.*1063A>G (n.*1063A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99622779A>T | CA357520497 | MTTP | c.2616A>T (p.Gln872His) c.2367A>T (p.Gln789His) c.2697A>T (p.Gln899His) c.*1063A>T (n.*1063A>T) | |
| 4 | g.99622780G>A | CA357520501 | MTTP | c.2617G>A (p.Glu873Lys) c.2368G>A (p.Glu790Lys) c.2698G>A (p.Glu900Lys) c.*1064G>A (n.*1064G>A) | |
| 4 | g.99622780G>C | CA357520509 | MTTP | c.2617G>C (p.Glu873Gln) c.2368G>C (p.Glu790Gln) c.2698G>C (p.Glu900Gln) c.*1064G>C (n.*1064G>C) | |
| 4 | g.99622780G>T | CA357520511 | MTTP | c.2617G>T (p.Glu873Ter) c.2368G>T (p.Glu790Ter) c.2698G>T (p.Glu900Ter) c.*1064G>T (n.*1064G>T) | |
| 4 | g.99622780_99622781insTTACTG | CA1480087982 | MTTP | c.2617_2618insTTACTG (p.Gln872_Glu873insValThr) c.2368_2369insTTACTG (p.Gln789_Glu790insValThr) c.2698_2699insTTACTG (p.Gln899_Glu900insValThr) c.*1064_*1065insTTACTG (n.*1064_*1065insTTACTG) | dbSNP |
| 4 | g.99622781A>C | CA357520515 | MTTP | c.2618A>C (p.Glu873Ala) c.2369A>C (p.Glu790Ala) c.2699A>C (p.Glu900Ala) c.*1065A>C (n.*1065A>C) | |
| 4 | g.99622781A>G | CA357520518 | MTTP | c.2618A>G (p.Glu873Gly) c.2369A>G (p.Glu790Gly) c.2699A>G (p.Glu900Gly) c.*1065A>G (n.*1065A>G) | |
| 4 | g.99622781A>T | CA357520519 | MTTP | c.2618A>T (p.Glu873Val) c.2369A>T (p.Glu790Val) c.2699A>T (p.Glu900Val) c.*1065A>T (n.*1065A>T) | |
| 4 | g.99622782G>A | CA440333209 | MTTP | c.2619G>A (p.Glu873=) c.2370G>A (p.Glu790=) c.2700G>A (p.Glu900=) c.*1066G>A (n.*1066G>A) | |
| 4 | g.99622782G>C | CA357520522 | MTTP | c.2619G>C (p.Glu873Asp) c.2370G>C (p.Glu790Asp) c.2700G>C (p.Glu900Asp) c.*1066G>C (n.*1066G>C) | ClinVar gnomAD v4 |
| 4 | g.99622782G= | CA1480087983 | MTTP | c.2619G= (p.Glu873=) c.2370G= (p.Glu790=) c.2700G= (p.Glu900=) c.*1066G= (n.*1066G=) | |
| 4 | g.99622782G>T | CA357520524 | MTTP | c.2619G>T (p.Glu873Asp) c.2370G>T (p.Glu790Asp) c.2700G>T (p.Glu900Asp) c.*1066G>T (n.*1066G>T) | dbSNP COSMIC |
| 4 | g.99622783A>C | CA357520528 | MTTP | c.2620A>C (p.Asn874His) c.2371A>C (p.Asn791His) c.2701A>C (p.Asn901His) c.*1067A>C (n.*1067A>C) | |
| 4 | g.99622783A>G | CA357520531 | MTTP | c.2620A>G (p.Asn874Asp) c.2371A>G (p.Asn791Asp) c.2701A>G (p.Asn901Asp) c.*1067A>G (n.*1067A>G) | ClinVar dbSNP |
| 4 | g.99622783A>T | CA357520533 | MTTP | c.2620A>T (p.Asn874Tyr) c.2371A>T (p.Asn791Tyr) c.2701A>T (p.Asn901Tyr) c.*1067A>T (n.*1067A>T) | |
| 4 | g.99622784A>C | CA357520535 | MTTP | c.2621A>C (p.Asn874Thr) c.2372A>C (p.Asn791Thr) c.2702A>C (p.Asn901Thr) c.*1068A>C (n.*1068A>C) | |
| 4 | g.99622784A>G | CA357520540 | MTTP | c.2621A>G (p.Asn874Ser) c.2372A>G (p.Asn791Ser) c.2702A>G (p.Asn901Ser) c.*1068A>G (n.*1068A>G) | gnomAD v4 |
| 4 | g.99622784A>T | CA357520537 | MTTP | c.2621A>T (p.Asn874Ile) c.2372A>T (p.Asn791Ile) c.2702A>T (p.Asn901Ile) c.*1068A>T (n.*1068A>T) | |
| 4 | g.99622785C>A | CA357520543 | MTTP | c.2622C>A (p.Asn874Lys) c.2373C>A (p.Asn791Lys) c.2703C>A (p.Asn901Lys) c.*1069C>A (n.*1069C>A) | |
| 4 | g.99622785C>G | CA357520544 | MTTP | c.2622C>G (p.Asn874Lys) c.2373C>G (p.Asn791Lys) c.2703C>G (p.Asn901Lys) c.*1069C>G (n.*1069C>G) | |
| 4 | g.99622785C>T | CA440333224 | MTTP | c.2622C>T (p.Asn874=) c.2373C>T (p.Asn791=) c.2703C>T (p.Asn901=) c.*1069C>T (n.*1069C>T) | gnomAD v4 |
| 4 | g.99622786T>A | CA357520546 | MTTP | c.2623T>A (p.Ser875Thr) c.2374T>A (p.Ser792Thr) c.2704T>A (p.Ser902Thr) c.*1070T>A (n.*1070T>A) | dbSNP |
| 4 | g.99622786T>C | CA3022417 | MTTP | c.2623T>C (p.Ser875Pro) c.2374T>C (p.Ser792Pro) c.2704T>C (p.Ser902Pro) c.*1070T>C (n.*1070T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.99622786T>G | CA357520549 | MTTP | c.2623T>G (p.Ser875Ala) c.2374T>G (p.Ser792Ala) c.2704T>G (p.Ser902Ala) c.*1070T>G (n.*1070T>G) | |
| 4 | g.99622786T= | CA1480087984 | MTTP | c.2623T= (p.Ser875=) c.2374T= (p.Ser792=) c.2704T= (p.Ser902=) c.*1070T= (n.*1070T=) | |
| 4 | g.99622787C>A | CA357520552 | MTTP | c.2624C>A (p.Ser875Ter) c.2375C>A (p.Ser792Ter) c.2705C>A (p.Ser902Ter) c.*1071C>A (n.*1071C>A) | |
| 4 | g.99622787C>G | CA357520555 | MTTP | c.2624C>G (p.Ser875Ter) c.2375C>G (p.Ser792Ter) c.2705C>G (p.Ser902Ter) c.*1071C>G (n.*1071C>G) | |
| 4 | g.99622787C>T | CA357520557 | MTTP | c.2624C>T (p.Ser875Leu) c.2375C>T (p.Ser792Leu) c.2705C>T (p.Ser902Leu) c.*1071C>T (n.*1071C>T) | |
| 4 | g.99622788A>C | CA440333228 | MTTP | c.2625A>C (p.Ser875=) c.2376A>C (p.Ser792=) c.2706A>C (p.Ser902=) c.*1072A>C (n.*1072A>C) | gnomAD v4 COSMIC |
| 4 | g.99622788A>G | CA440333230 | MTTP | c.2625A>G (p.Ser875=) c.2376A>G (p.Ser792=) c.2706A>G (p.Ser902=) c.*1072A>G (n.*1072A>G) | dbSNP |
| 4 | g.99622788A>T | CA440333232 | MTTP | c.2625A>T (p.Ser875=) c.2376A>T (p.Ser792=) c.2706A>T (p.Ser902=) c.*1072A>T (n.*1072A>T) | |
| 4 | g.99622789G>A | CA357520560 | MTTP | c.2626G>A (p.Glu876Lys) c.2377G>A (p.Glu793Lys) c.2707G>A (p.Glu903Lys) c.*1073G>A (n.*1073G>A) | |
| 4 | g.99622789G>C | CA357520563 | MTTP | c.2626G>C (p.Glu876Gln) c.2377G>C (p.Glu793Gln) c.2707G>C (p.Glu903Gln) c.*1073G>C (n.*1073G>C) | |
| 4 | g.99622789G>T | CA357520566 | MTTP | c.2626G>T (p.Glu876Ter) c.2377G>T (p.Glu793Ter) c.2707G>T (p.Glu903Ter) c.*1073G>T (n.*1073G>T) | |
| 4 | g.99622790A>C | CA357520569 | MTTP | c.2627A>C (p.Glu876Ala) c.2378A>C (p.Glu793Ala) c.2708A>C (p.Glu903Ala) c.*1074A>C (n.*1074A>C) | |
| 4 | g.99622790A>G | CA357520572 | MTTP | c.2627A>G (p.Glu876Gly) c.2378A>G (p.Glu793Gly) c.2708A>G (p.Glu903Gly) c.*1074A>G (n.*1074A>G) | |
| 4 | g.99622790A>T | CA357520573 | MTTP | c.2627A>T (p.Glu876Val) c.2378A>T (p.Glu793Val) c.2708A>T (p.Glu903Val) c.*1074A>T (n.*1074A>T) | |
| 4 | g.99622791G>A | CA440333236 | MTTP | c.2628G>A (p.Glu876=) c.2379G>A (p.Glu793=) c.2709G>A (p.Glu903=) c.*1075G>A (n.*1075G>A) | |
| 4 | g.99622791G>C | CA357520578 | MTTP | c.2628G>C (p.Glu876Asp) c.2379G>C (p.Glu793Asp) c.2709G>C (p.Glu903Asp) c.*1075G>C (n.*1075G>C) | |
| 4 | g.99622791G>T | CA357520576 | MTTP | c.2628G>T (p.Glu876Asp) c.2379G>T (p.Glu793Asp) c.2709G>T (p.Glu903Asp) c.*1075G>T (n.*1075G>T) | |
| 4 | g.99622792A= | CA1480087985 | MTTP | c.2629A= (p.Met877=) c.2380A= (p.Met794=) c.2710A= (p.Met904=) c.*1076A= (n.*1076A=) | |
| 4 | g.99622792A>C | CA357520582 | MTTP | c.2629A>C (p.Met877Leu) c.2380A>C (p.Met794Leu) c.2710A>C (p.Met904Leu) c.*1076A>C (n.*1076A>C) | |
| 4 | g.99622792A>G | CA357520584 | MTTP | c.2629A>G (p.Met877Val) c.2380A>G (p.Met794Val) c.2710A>G (p.Met904Val) c.*1076A>G (n.*1076A>G) | ClinVar dbSNP |
| 4 | g.99622792A>T | CA357520586 | MTTP | c.2629A>T (p.Met877Leu) c.2380A>T (p.Met794Leu) c.2710A>T (p.Met904Leu) c.*1076A>T (n.*1076A>T) | |
| 4 | g.99622793T>A | CA357520588 | MTTP | c.2630T>A (p.Met877Lys) c.2381T>A (p.Met794Lys) c.2711T>A (p.Met904Lys) c.*1077T>A (n.*1077T>A) | gnomAD v4 |
| 4 | g.99622793T>C | CA357520591 | MTTP | c.2630T>C (p.Met877Thr) c.2381T>C (p.Met794Thr) c.2711T>C (p.Met904Thr) c.*1077T>C (n.*1077T>C) | |
| 4 | g.99622793T>G | CA357520594 | MTTP | c.2630T>G (p.Met877Arg) c.2381T>G (p.Met794Arg) c.2711T>G (p.Met904Arg) c.*1077T>G (n.*1077T>G) | |
| 4 | g.99622794G>A | CA3022418 | MTTP | c.2631G>A (p.Met877Ile) c.2382G>A (p.Met794Ile) c.2712G>A (p.Met904Ile) c.*1078G>A (n.*1078G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.99622794G>C | CA357520597 | MTTP | c.2631G>C (p.Met877Ile) c.2382G>C (p.Met794Ile) c.2712G>C (p.Met904Ile) c.*1078G>C (n.*1078G>C) | |
| 4 | g.99622794G= | CA1480087986 | MTTP | c.2631G= (p.Met877=) c.2382G= (p.Met794=) c.2712G= (p.Met904=) c.*1078G= (n.*1078G=) | |
| 4 | g.99622794G>T | CA357520599 | MTTP | c.2631G>T (p.Met877Ile) c.2382G>T (p.Met794Ile) c.2712G>T (p.Met904Ile) c.*1078G>T (n.*1078G>T) | |
| 4 | g.99622795T>A | CA357520600 | MTTP | c.2632T>A (p.Cys878Ser) c.2383T>A (p.Cys795Ser) c.2713T>A (p.Cys905Ser) c.*1079T>A (n.*1079T>A) | |
| 4 | g.99622795T>C | CA357520602 | MTTP | c.2632T>C (p.Cys878Arg) c.2383T>C (p.Cys795Arg) c.2713T>C (p.Cys905Arg) c.*1079T>C (n.*1079T>C) | |
| 4 | g.99622795T>G | CA357520605 | MTTP | c.2632T>G (p.Cys878Gly) c.2383T>G (p.Cys795Gly) c.2713T>G (p.Cys905Gly) c.*1079T>G (n.*1079T>G) | gnomAD v4 |
| 4 | g.99622796G>A | CA357520614 | MTTP | c.2633G>A (p.Cys878Tyr) c.2384G>A (p.Cys795Tyr) c.2714G>A (p.Cys905Tyr) c.*1080G>A (n.*1080G>A) | COSMIC |
| 4 | g.99622796G>C | CA357520611 | MTTP | c.2633G>C (p.Cys878Ser) c.2384G>C (p.Cys795Ser) c.2714G>C (p.Cys905Ser) c.*1080G>C (n.*1080G>C) | |
| 4 | g.99622796G>T | CA357520609 | MTTP | c.2633G>T (p.Cys878Phe) c.2384G>T (p.Cys795Phe) c.2714G>T (p.Cys905Phe) c.*1080G>T (n.*1080G>T) | |
| 4 | g.99622797C>A | CA357520617 | MTTP | c.2634C>A (p.Cys878Ter) c.2385C>A (p.Cys795Ter) c.2715C>A (p.Cys905Ter) c.*1081C>A (n.*1081C>A) | |
| 4 | g.99622797C= | CA1480087987 | MTTP | c.2634C= (p.Cys878=) c.2385C= (p.Cys795=) c.2715C= (p.Cys905=) c.*1081C= (n.*1081C=) | |
| 4 | g.99622797C>G | CA357520619 | MTTP | c.2634C>G (p.Cys878Trp) c.2385C>G (p.Cys795Trp) c.2715C>G (p.Cys905Trp) c.*1081C>G (n.*1081C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99622797C>T | CA440333252 | MTTP | c.2634C>T (p.Cys878=) c.2385C>T (p.Cys795=) c.2715C>T (p.Cys905=) c.*1081C>T (n.*1081C>T) | dbSNP |
| 4 | g.99622798A= | CA1480087988 | MTTP | c.2635A= (p.Lys879=) c.2386A= (p.Lys796=) c.2716A= (p.Lys906=) c.*1082A= (n.*1082A=) | |
| 4 | g.99622798A>C | CA357520623 | MTTP | c.2635A>C (p.Lys879Gln) c.2386A>C (p.Lys796Gln) c.2716A>C (p.Lys906Gln) c.*1082A>C (n.*1082A>C) | gnomAD v4 |
| 4 | g.99622798A>G | CA357520625 | MTTP | c.2635A>G (p.Lys879Glu) c.2386A>G (p.Lys796Glu) c.2716A>G (p.Lys906Glu) c.*1082A>G (n.*1082A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.99622798A>T | CA357520628 | MTTP | c.2635A>T (p.Lys879Ter) c.2386A>T (p.Lys796Ter) c.2716A>T (p.Lys906Ter) c.*1082A>T (n.*1082A>T) | |
| 4 | g.99622799A= | CA1480087989 | MTTP | c.2636A= (p.Lys879=) c.2387A= (p.Lys796=) c.2717A= (p.Lys906=) c.*1083A= (n.*1083A=) | |
| 4 | g.99622799A>C | CA357520632 | MTTP | c.2636A>C (p.Lys879Thr) c.2387A>C (p.Lys796Thr) c.2717A>C (p.Lys906Thr) c.*1083A>C (n.*1083A>C) | |
| 4 | g.99622799A>G | CA3022419 | MTTP | c.2636A>G (p.Lys879Arg) c.2387A>G (p.Lys796Arg) c.2717A>G (p.Lys906Arg) c.*1083A>G (n.*1083A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99622799A>T | CA357520637 | MTTP | c.2636A>T (p.Lys879Ile) c.2387A>T (p.Lys796Ile) c.2717A>T (p.Lys906Ile) c.*1083A>T (n.*1083A>T) | |
| 4 | g.99622800A>C | CA357520639 | MTTP | c.2637A>C (p.Lys879Asn) c.2388A>C (p.Lys796Asn) c.2718A>C (p.Lys906Asn) c.*1084A>C (n.*1084A>C) | |
| 4 | g.99622800A>G | CA440333260 | MTTP | c.2637A>G (p.Lys879=) c.2388A>G (p.Lys796=) c.2718A>G (p.Lys906=) c.*1084A>G (n.*1084A>G) | |
| 4 | g.99622800A>T | CA357520641 | MTTP | c.2637A>T (p.Lys879Asn) c.2388A>T (p.Lys796Asn) c.2718A>T (p.Lys906Asn) c.*1084A>T (n.*1084A>T) | |
| 4 | g.99622801G>A | CA357520645 | MTTP | c.2638G>A (p.Val880Met) c.2389G>A (p.Val797Met) c.2719G>A (p.Val907Met) c.*1085G>A (n.*1085G>A) | gnomAD v4 |
| 4 | g.99622801G>C | CA357520647 | MTTP | c.2638G>C (p.Val880Leu) c.2389G>C (p.Val797Leu) c.2719G>C (p.Val907Leu) c.*1085G>C (n.*1085G>C) | |
| 4 | g.99622801G>T | CA357520648 | MTTP | c.2638G>T (p.Val880Leu) c.2389G>T (p.Val797Leu) c.2719G>T (p.Val907Leu) c.*1085G>T (n.*1085G>T) | |
| 4 | g.99622802T>A | CA357520653 | MTTP | c.2639T>A (p.Val880Glu) c.2390T>A (p.Val797Glu) c.2720T>A (p.Val907Glu) c.*1086T>A (n.*1086T>A) | |
| 4 | g.99622802T>C | CA3022420 | MTTP | c.2639T>C (p.Val880Ala) c.2390T>C (p.Val797Ala) c.2720T>C (p.Val907Ala) c.*1086T>C (n.*1086T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.99622802T>G | CA357520651 | MTTP | c.2639T>G (p.Val880Gly) c.2390T>G (p.Val797Gly) c.2720T>G (p.Val907Gly) c.*1086T>G (n.*1086T>G) | |
| 4 | g.99622802T= | CA1480087990 | MTTP | c.2639T= (p.Val880=) c.2390T= (p.Val797=) c.2720T= (p.Val907=) c.*1086T= (n.*1086T=) | |
| 4 | g.99622803G>A | CA440333269 | MTTP | c.2640G>A (p.Val880=) c.2391G>A (p.Val797=) c.2721G>A (p.Val907=) c.*1087G>A (n.*1087G>A) | |
| 4 | g.99622803G>C | CA440333270 | MTTP | c.2640G>C (p.Val880=) c.2391G>C (p.Val797=) c.2721G>C (p.Val907=) c.*1087G>C (n.*1087G>C) | dbSNP gnomAD v4 |
| 4 | g.99622803G= | CA1480087991 | MTTP | c.2640G= (p.Val880=) c.2391G= (p.Val797=) c.2721G= (p.Val907=) c.*1087G= (n.*1087G=) | |
| 4 | g.99622803G>T | CA440333271 | MTTP | c.2640G>T (p.Val880=) c.2391G>T (p.Val797=) c.2721G>T (p.Val907=) c.*1087G>T (n.*1087G>T) | gnomAD v4 |
| 4 | g.99622804G>A | CA357520655 | MTTP | c.2641G>A (p.Val881Met) c.2392G>A (p.Val798Met) c.2722G>A (p.Val908Met) c.*1088G>A (n.*1088G>A) | dbSNP |
| 4 | g.99622804G>C | CA357520657 | MTTP | c.2641G>C (p.Val881Leu) c.2392G>C (p.Val798Leu) c.2722G>C (p.Val908Leu) c.*1088G>C (n.*1088G>C) | |
| 4 | g.99622804G= | CA1480087992 | MTTP | c.2641G= (p.Val881=) c.2392G= (p.Val798=) c.2722G= (p.Val908=) c.*1088G= (n.*1088G=) | |
| 4 | g.99622804G>T | CA357520658 | MTTP | c.2641G>T (p.Val881Leu) c.2392G>T (p.Val798Leu) c.2722G>T (p.Val908Leu) c.*1088G>T (n.*1088G>T) | |
| 4 | g.99622805T>A | CA357520661 | MTTP | c.2642T>A (p.Val881Glu) c.2393T>A (p.Val798Glu) c.2723T>A (p.Val908Glu) c.*1089T>A (n.*1089T>A) | |
| 4 | g.99622805T>C | CA357520664 | MTTP | c.2642T>C (p.Val881Ala) c.2393T>C (p.Val798Ala) c.2723T>C (p.Val908Ala) c.*1089T>C (n.*1089T>C) | |
| 4 | g.99622805T>G | CA357520666 | MTTP | c.2642T>G (p.Val881Gly) c.2393T>G (p.Val798Gly) c.2723T>G (p.Val908Gly) c.*1089T>G (n.*1089T>G) | |
| 4 | g.99622806G>A | CA440333278 | MTTP | c.2643G>A (p.Val881=) c.2394G>A (p.Val798=) c.2724G>A (p.Val908=) c.*1090G>A (n.*1090G>A) | |
| 4 | g.99622806G>C | CA440333280 | MTTP | c.2643G>C (p.Val881=) c.2394G>C (p.Val798=) c.2724G>C (p.Val908=) c.*1090G>C (n.*1090G>C) | |
| 4 | g.99622806G>T | CA440333282 | MTTP | c.2643G>T (p.Val881=) c.2394G>T (p.Val798=) c.2724G>T (p.Val908=) c.*1090G>T (n.*1090G>T) | |
| 4 | g.99622807T>A | CA357520668 | MTTP | c.2644T>A (p.Phe882Ile) c.2395T>A (p.Phe799Ile) c.2725T>A (p.Phe909Ile) c.*1091T>A (n.*1091T>A) | |
| 4 | g.99622807T>C | CA357520672 | MTTP | c.2644T>C (p.Phe882Leu) c.2395T>C (p.Phe799Leu) c.2725T>C (p.Phe909Leu) c.*1091T>C (n.*1091T>C) | |
| 4 | g.99622807T>G | CA357520676 | MTTP | c.2644T>G (p.Phe882Val) c.2395T>G (p.Phe799Val) c.2725T>G (p.Phe909Val) c.*1091T>G (n.*1091T>G) | |
| 4 | g.99622808T>A | CA357520679 | MTTP | c.2645T>A (p.Phe882Tyr) c.2396T>A (p.Phe799Tyr) c.2726T>A (p.Phe909Tyr) c.*1092T>A (n.*1092T>A) | |
| 4 | g.99622808T>C | CA357520681 | MTTP | c.2645T>C (p.Phe882Ser) c.2396T>C (p.Phe799Ser) c.2726T>C (p.Phe909Ser) c.*1092T>C (n.*1092T>C) | |
| 4 | g.99622808T>G | CA357520683 | MTTP | c.2645T>G (p.Phe882Cys) c.2396T>G (p.Phe799Cys) c.2726T>G (p.Phe909Cys) c.*1092T>G (n.*1092T>G) | |
| 4 | g.99622809T>A | CA357520685 | MTTP | c.2646T>A (p.Phe882Leu) c.2397T>A (p.Phe799Leu) c.2727T>A (p.Phe909Leu) c.*1093T>A (n.*1093T>A) | |
| 4 | g.99622809T>C | CA440333291 | MTTP | c.2646T>C (p.Phe882=) c.2397T>C (p.Phe799=) c.2727T>C (p.Phe909=) c.*1093T>C (n.*1093T>C) | |
| 4 | g.99622809T>G | CA357520687 | MTTP | c.2646T>G (p.Phe882Leu) c.2397T>G (p.Phe799Leu) c.2727T>G (p.Phe909Leu) c.*1093T>G (n.*1093T>G) | |
| 4 | g.99622810G>A | CA357520691 | MTTP | c.2647G>A (p.Ala883Thr) c.2398G>A (p.Ala800Thr) c.2728G>A (p.Ala910Thr) c.*1094G>A (n.*1094G>A) | gnomAD v4 |
| 4 | g.99622810G>C | CA357520697 | MTTP | c.2647G>C (p.Ala883Pro) c.2398G>C (p.Ala800Pro) c.2728G>C (p.Ala910Pro) c.*1094G>C (n.*1094G>C) | |
| 4 | g.99622810G>T | CA357520694 | MTTP | c.2647G>T (p.Ala883Ser) c.2398G>T (p.Ala800Ser) c.2728G>T (p.Ala910Ser) c.*1094G>T (n.*1094G>T) | gnomAD v4 |
| 4 | g.99622811C>A | CA357520698 | MTTP | c.2648C>A (p.Ala883Asp) c.2399C>A (p.Ala800Asp) c.2729C>A (p.Ala910Asp) c.*1095C>A (n.*1095C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.99622811C= | CA1480087993 | MTTP | c.2648C= (p.Ala883=) c.2399C= (p.Ala800=) c.2729C= (p.Ala910=) c.*1095C= (n.*1095C=) | |
| 4 | g.99622811C>G | CA357520703 | MTTP | c.2648C>G (p.Ala883Gly) c.2399C>G (p.Ala800Gly) c.2729C>G (p.Ala910Gly) c.*1095C>G (n.*1095C>G) | |
| 4 | g.99622811C>T | CA357520701 | MTTP | c.2648C>T (p.Ala883Val) c.2399C>T (p.Ala800Val) c.2729C>T (p.Ala910Val) c.*1095C>T (n.*1095C>T) | ClinVar |
| 4 | g.99622812C>A | CA440333300 | MTTP | c.2649C>A (p.Ala883=) c.2400C>A (p.Ala800=) c.2730C>A (p.Ala910=) c.*1096C>A (n.*1096C>A) | |
| 4 | g.99622812C>G | CA440333301 | MTTP | c.2649C>G (p.Ala883=) c.2400C>G (p.Ala800=) c.2730C>G (p.Ala910=) c.*1096C>G (n.*1096C>G) | |
| 4 | g.99622812C>T | CA440333303 | MTTP | c.2649C>T (p.Ala883=) c.2400C>T (p.Ala800=) c.2730C>T (p.Ala910=) c.*1096C>T (n.*1096C>T) | |
| 4 | g.99622813C>A | CA357520706 | MTTP | c.2650C>A (p.Pro884Thr) c.2401C>A (p.Pro801Thr) c.2731C>A (p.Pro911Thr) c.*1097C>A (n.*1097C>A) | |
| 4 | g.99622813C= | CA1480087994 | MTTP | c.2650C= (p.Pro884=) c.2401C= (p.Pro801=) c.2731C= (p.Pro911=) c.*1097C= (n.*1097C=) | |
| 4 | g.99622813C>G | CA357520710 | MTTP | c.2650C>G (p.Pro884Ala) c.2401C>G (p.Pro801Ala) c.2731C>G (p.Pro911Ala) c.*1097C>G (n.*1097C>G) | |
| 4 | g.99622813C>T | CA357520708 | MTTP | c.2650C>T (p.Pro884Ser) c.2401C>T (p.Pro801Ser) c.2731C>T (p.Pro911Ser) c.*1097C>T (n.*1097C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.99622814C>A | CA357520713 | MTTP | c.2651C>A (p.Pro884His) c.2402C>A (p.Pro801His) c.2732C>A (p.Pro911His) c.*1098C>A (n.*1098C>A) | |
| 4 | g.99622814C>G | CA357520717 | MTTP | c.2651C>G (p.Pro884Arg) c.2402C>G (p.Pro801Arg) c.2732C>G (p.Pro911Arg) c.*1098C>G (n.*1098C>G) | |
| 4 | g.99622814C>T | CA357520715 | MTTP | c.2651C>T (p.Pro884Leu) c.2402C>T (p.Pro801Leu) c.2732C>T (p.Pro911Leu) c.*1098C>T (n.*1098C>T) | gnomAD v4 |
| 4 | g.99622815del | CA2671535543 | MTTP | c.2652del (p.Gln885SerfsTer15) c.2403del (p.Gln802SerfsTer15) c.2733del (p.Gln912SerfsTer15) c.*1099del (n.*1099del) | gnomAD v4 |
| 4 | g.99622815T>A | CA440333311 | MTTP | c.2652T>A (p.Pro884=) c.2403T>A (p.Pro801=) c.2733T>A (p.Pro911=) c.*1099T>A (n.*1099T>A) | |
| 4 | g.99622815T>C | CA3022421 | MTTP | c.2652T>C (p.Pro884=) c.2403T>C (p.Pro801=) c.2733T>C (p.Pro911=) c.*1099T>C (n.*1099T>C) | dbSNP ExAC |
| 4 | g.99622815T>G | CA440333313 | MTTP | c.2652T>G (p.Pro884=) c.2403T>G (p.Pro801=) c.2733T>G (p.Pro911=) c.*1099T>G (n.*1099T>G) | |
| 4 | g.99622815T= | CA1480087995 | MTTP | c.2652T= (p.Pro884=) c.2403T= (p.Pro801=) c.2733T= (p.Pro911=) c.*1099T= (n.*1099T=) | |
| 4 | g.99622816C>A | CA357520725 | MTTP | c.2653C>A (p.Gln885Lys) c.2404C>A (p.Gln802Lys) c.2734C>A (p.Gln912Lys) c.*1100C>A (n.*1100C>A) | |
| 4 | g.99622816C= | CA1480087996 | MTTP | c.2653C= (p.Gln885=) c.2404C= (p.Gln802=) c.2734C= (p.Gln912=) c.*1100C= (n.*1100C=) | |
| 4 | g.99622816C>G | CA357520727 | MTTP | c.2653C>G (p.Gln885Glu) c.2404C>G (p.Gln802Glu) c.2734C>G (p.Gln912Glu) c.*1100C>G (n.*1100C>G) | |
| 4 | g.99622816C>T | CA357520730 | MTTP | c.2653C>T (p.Gln885Ter) c.2404C>T (p.Gln802Ter) c.2734C>T (p.Gln912Ter) c.*1100C>T (n.*1100C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99622817A>C | CA357520734 | MTTP | c.2654A>C (p.Gln885Pro) c.2405A>C (p.Gln802Pro) c.2735A>C (p.Gln912Pro) c.*1101A>C (n.*1101A>C) | |
| 4 | g.99622817A>G | CA357520737 | MTTP | c.2654A>G (p.Gln885Arg) c.2405A>G (p.Gln802Arg) c.2735A>G (p.Gln912Arg) c.*1101A>G (n.*1101A>G) | |
| 4 | g.99622817A>T | CA357520739 | MTTP | c.2654A>T (p.Gln885Leu) c.2405A>T (p.Gln802Leu) c.2735A>T (p.Gln912Leu) c.*1101A>T (n.*1101A>T) | |
| 4 | g.99622818G>A | CA440333321 | MTTP | c.2655G>A (p.Gln885=) c.2406G>A (p.Gln802=) c.2736G>A (p.Gln912=) c.*1102G>A (n.*1102G>A) | |
| 4 | g.99622818G>C | CA357520741 | MTTP | c.2655G>C (p.Gln885His) c.2406G>C (p.Gln802His) c.2736G>C (p.Gln912His) c.*1102G>C (n.*1102G>C) | |
| 4 | g.99622818G>T | CA357520743 | MTTP | c.2655G>T (p.Gln885His) c.2406G>T (p.Gln802His) c.2736G>T (p.Gln912His) c.*1102G>T (n.*1102G>T) | |
| 4 | g.99622819C>A | CA357520746 | MTTP | c.2656C>A (p.Pro886Thr) c.2407C>A (p.Pro803Thr) c.2737C>A (p.Pro913Thr) c.*1103C>A (n.*1103C>A) | |
| 4 | g.99622819C= | CA1480087997 | MTTP | c.2656C= (p.Pro886=) c.2407C= (p.Pro803=) c.2737C= (p.Pro913=) c.*1103C= (n.*1103C=) | |
| 4 | g.99622819C>G | CA357520748 | MTTP | c.2656C>G (p.Pro886Ala) c.2407C>G (p.Pro803Ala) c.2737C>G (p.Pro913Ala) c.*1103C>G (n.*1103C>G) | |
| 4 | g.99622819C>T | CA357520750 | MTTP | c.2656C>T (p.Pro886Ser) c.2407C>T (p.Pro803Ser) c.2737C>T (p.Pro913Ser) c.*1103C>T (n.*1103C>T) | dbSNP |
| 4 | g.99622820C>A | CA357520752 | MTTP | c.2657C>A (p.Pro886Gln) c.2408C>A (p.Pro803Gln) c.2738C>A (p.Pro913Gln) c.*1104C>A (n.*1104C>A) | |
| 4 | g.99622820C= | CA1480087998 | MTTP | c.2657C= (p.Pro886=) c.2408C= (p.Pro803=) c.2738C= (p.Pro913=) c.*1104C= (n.*1104C=) | |
| 4 | g.99622820C>G | CA357520756 | MTTP | c.2657C>G (p.Pro886Arg) c.2408C>G (p.Pro803Arg) c.2738C>G (p.Pro913Arg) c.*1104C>G (n.*1104C>G) | |
| 4 | g.99622820C>T | CA3022422 | MTTP | c.2657C>T (p.Pro886Leu) c.2408C>T (p.Pro803Leu) c.2738C>T (p.Pro913Leu) c.*1104C>T (n.*1104C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99622821G>A | CA3022423 | MTTP | c.2658G>A (p.Pro886=) c.2409G>A (p.Pro803=) c.2739G>A (p.Pro913=) c.*1105G>A (n.*1105G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99622821G>C | CA440333330 | MTTP | c.2658G>C (p.Pro886=) c.2409G>C (p.Pro803=) c.2739G>C (p.Pro913=) c.*1105G>C (n.*1105G>C) | |
| 4 | g.99622821G= | CA1480087999 | MTTP | c.2658G= (p.Pro886=) c.2409G= (p.Pro803=) c.2739G= (p.Pro913=) c.*1105G= (n.*1105G=) | |
| 4 | g.99622821G>T | CA440333332 | MTTP | c.2658G>T (p.Pro886=) c.2409G>T (p.Pro803=) c.2739G>T (p.Pro913=) c.*1105G>T (n.*1105G>T) | |
| 4 | g.99622822G>A | CA357520759 | MTTP | c.2659G>A (p.Asp887Asn) c.2410G>A (p.Asp804Asn) c.2740G>A (p.Asp914Asn) c.*1106G>A (n.*1106G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.99622822G>C | CA357520762 | MTTP | c.2659G>C (p.Asp887His) c.2410G>C (p.Asp804His) c.2740G>C (p.Asp914His) c.*1106G>C (n.*1106G>C) | |
| 4 | g.99622822G= | CA1480088000 | MTTP | c.2659G= (p.Asp887=) c.2410G= (p.Asp804=) c.2740G= (p.Asp914=) c.*1106G= (n.*1106G=) | |
| 4 | g.99622822G>T | CA357520763 | MTTP | c.2659G>T (p.Asp887Tyr) c.2410G>T (p.Asp804Tyr) c.2740G>T (p.Asp914Tyr) c.*1106G>T (n.*1106G>T) | |
| 4 | g.99622823A>C | CA357520766 | MTTP | c.2660A>C (p.Asp887Ala) c.2411A>C (p.Asp804Ala) c.2741A>C (p.Asp914Ala) c.*1107A>C (n.*1107A>C) | |
| 4 | g.99622823A>G | CA357520768 | MTTP | c.2660A>G (p.Asp887Gly) c.2411A>G (p.Asp804Gly) c.2741A>G (p.Asp914Gly) c.*1107A>G (n.*1107A>G) | gnomAD v4 |
| 4 | g.99622823A>T | CA357520771 | MTTP | c.2660A>T (p.Asp887Val) c.2411A>T (p.Asp804Val) c.2741A>T (p.Asp914Val) c.*1107A>T (n.*1107A>T) | |
| 4 | g.99622824_99622825del | CA645520135 | MTTP | c.2661_2662del (p.Asp887GlufsTer?) c.2412_2413del (p.Asp804GlufsTer?) c.2742_2743del (p.Asp914GlufsTer?) c.*1108_*1109del (n.*1108_*1109del) | COSMIC COSMIC |
| 4 | g.99622824T>A | CA3022425 | MTTP | c.2661T>A (p.Asp887Glu) c.2412T>A (p.Asp804Glu) c.2742T>A (p.Asp914Glu) c.*1108T>A (n.*1108T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.99622824T>C | CA440333340 | MTTP | c.2661T>C (p.Asp887=) c.2412T>C (p.Asp804=) c.2742T>C (p.Asp914=) c.*1108T>C (n.*1108T>C) | ClinVar gnomAD v4 |
| 4 | g.99622824T>G | CA3022424 | MTTP | c.2661T>G (p.Asp887Glu) c.2412T>G (p.Asp804Glu) c.2742T>G (p.Asp914Glu) c.*1108T>G (n.*1108T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99622824T= | CA1480088001 | MTTP | c.2661T= (p.Asp887=) c.2412T= (p.Asp804=) c.2742T= (p.Asp914=) c.*1108T= (n.*1108T=) | |
| 4 | g.99622825A= | CA1480088002 | MTTP | c.2662A= (p.Ser888=) c.2413A= (p.Ser805=) c.2743A= (p.Ser915=) c.*1109A= (n.*1109A=) | |
| 4 | g.99622825A>C | CA357520782 | MTTP | c.2662A>C (p.Ser888Arg) c.2413A>C (p.Ser805Arg) c.2743A>C (p.Ser915Arg) c.*1109A>C (n.*1109A>C) | |
| 4 | g.99622825A>G | CA357520780 | MTTP | c.2662A>G (p.Ser888Gly) c.2413A>G (p.Ser805Gly) c.2743A>G (p.Ser915Gly) c.*1109A>G (n.*1109A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99622825A>T | CA357520777 | MTTP | c.2662A>T (p.Ser888Cys) c.2413A>T (p.Ser805Cys) c.2743A>T (p.Ser915Cys) c.*1109A>T (n.*1109A>T) | |
| 4 | g.99622826G>A | CA357520785 | MTTP | c.2663G>A (p.Ser888Asn) c.2414G>A (p.Ser805Asn) c.2744G>A (p.Ser915Asn) c.*1110G>A (n.*1110G>A) | ClinVar gnomAD v4 |
| 4 | g.99622826G>C | CA357520786 | MTTP | c.2663G>C (p.Ser888Thr) c.2414G>C (p.Ser805Thr) c.2744G>C (p.Ser915Thr) c.*1110G>C (n.*1110G>C) | |
| 4 | g.99622826G>T | CA357520788 | MTTP | c.2663G>T (p.Ser888Ile) c.2414G>T (p.Ser805Ile) c.2744G>T (p.Ser915Ile) c.*1110G>T (n.*1110G>T) | |
| 4 | g.99622827T>A | CA357520790 | MTTP | c.2664T>A (p.Ser888Arg) c.2415T>A (p.Ser805Arg) c.2745T>A (p.Ser915Arg) c.*1111T>A (n.*1111T>A) | |
| 4 | g.99622827T>C | CA440333349 | MTTP | c.2664T>C (p.Ser888=) c.2415T>C (p.Ser805=) c.2745T>C (p.Ser915=) c.*1111T>C (n.*1111T>C) | |
| 4 | g.99622827T>G | CA357520792 | MTTP | c.2664T>G (p.Ser888Arg) c.2415T>G (p.Ser805Arg) c.2745T>G (p.Ser915Arg) c.*1111T>G (n.*1111T>G) | |
| 4 | g.99622828A>C | CA357520794 | MTTP | c.2665A>C (p.Thr889Pro) c.2416A>C (p.Thr806Pro) c.2746A>C (p.Thr916Pro) c.*1112A>C (n.*1112A>C) | |
| 4 | g.99622828A>G | CA357520796 | MTTP | c.2665A>G (p.Thr889Ala) c.2416A>G (p.Thr806Ala) c.2746A>G (p.Thr916Ala) c.*1112A>G (n.*1112A>G) | gnomAD v4 |
| 4 | g.99622828A>T | CA357520798 | MTTP | c.2665A>T (p.Thr889Ser) c.2416A>T (p.Thr806Ser) c.2746A>T (p.Thr916Ser) c.*1112A>T (n.*1112A>T) | |
| 4 | g.99622829C>A | CA357520801 | MTTP | c.2666C>A (p.Thr889Asn) c.2417C>A (p.Thr806Asn) c.2747C>A (p.Thr916Asn) c.*1113C>A (n.*1113C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99622829C= | CA1480088003 | MTTP | c.2666C= (p.Thr889=) c.2417C= (p.Thr806=) c.2747C= (p.Thr916=) c.*1113C= (n.*1113C=) | |
| 4 | g.99622829C>G | CA357520804 | MTTP | c.2666C>G (p.Thr889Ser) c.2417C>G (p.Thr806Ser) c.2747C>G (p.Thr916Ser) c.*1113C>G (n.*1113C>G) | |
| 4 | g.99622829C>T | CA357520805 | MTTP | c.2666C>T (p.Thr889Ile) c.2417C>T (p.Thr806Ile) c.2747C>T (p.Thr916Ile) c.*1113C>T (n.*1113C>T) | |
| 4 | g.99622830T>A | CA440333358 | MTTP | c.2667T>A (p.Thr889=) c.2418T>A (p.Thr806=) c.2748T>A (p.Thr916=) c.*1114T>A (n.*1114T>A) | |
| 4 | g.99622830T>C | CA440333360 | MTTP | c.2667T>C (p.Thr889=) c.2418T>C (p.Thr806=) c.2748T>C (p.Thr916=) c.*1114T>C (n.*1114T>C) | |
| 4 | g.99622830T>G | CA440333362 | MTTP | c.2667T>G (p.Thr889=) c.2418T>G (p.Thr806=) c.2748T>G (p.Thr916=) c.*1114T>G (n.*1114T>G) | ClinVar dbSNP |
| 4 | g.99622831T>A | CA357520808 | MTTP | c.2668T>A (p.Ser890Thr) c.2419T>A (p.Ser807Thr) c.2749T>A (p.Ser917Thr) c.*1115T>A (n.*1115T>A) | |
| 4 | g.99622831T>C | CA357520807 | MTTP | c.2668T>C (p.Ser890Pro) c.2419T>C (p.Ser807Pro) c.2749T>C (p.Ser917Pro) c.*1115T>C (n.*1115T>C) | ClinVar dbSNP COSMIC |
| 4 | g.99622831T>G | CA357520806 | MTTP | c.2668T>G (p.Ser890Ala) c.2419T>G (p.Ser807Ala) c.2749T>G (p.Ser917Ala) c.*1115T>G (n.*1115T>G) | |
| 4 | g.99622831T= | CA1480088004 | MTTP | c.2668T= (p.Ser890=) c.2419T= (p.Ser807=) c.2749T= (p.Ser917=) c.*1115T= (n.*1115T=) | |
| 4 | g.99622832C>A | CA357520810 | MTTP | c.2669C>A (p.Ser890Tyr) c.2420C>A (p.Ser807Tyr) c.2750C>A (p.Ser917Tyr) c.*1116C>A (n.*1116C>A) | |
| 4 | g.99622832C= | CA1480088005 | MTTP | c.2669C= (p.Ser890=) c.2420C= (p.Ser807=) c.2750C= (p.Ser917=) c.*1116C= (n.*1116C=) | |
| 4 | g.99622832C>G | CA357520812 | MTTP | c.2669C>G (p.Ser890Cys) c.2420C>G (p.Ser807Cys) c.2750C>G (p.Ser917Cys) c.*1116C>G (n.*1116C>G) | gnomAD v4 |
| 4 | g.99622832C>T | CA3022426 | MTTP | c.2669C>T (p.Ser890Phe) c.2420C>T (p.Ser807Phe) c.2750C>T (p.Ser917Phe) c.*1116C>T (n.*1116C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.99622833C>A | CA440333369 | MTTP | c.2670C>A (p.Ser890=) c.2421C>A (p.Ser807=) c.2751C>A (p.Ser917=) c.*1117C>A (n.*1117C>A) | |
| 4 | g.99622833C>G | CA440333371 | MTTP | c.2670C>G (p.Ser890=) c.2421C>G (p.Ser807=) c.2751C>G (p.Ser917=) c.*1117C>G (n.*1117C>G) | gnomAD v4 |
| 4 | g.99622833C>T | CA440333373 | MTTP | c.2670C>T (p.Ser890=) c.2421C>T (p.Ser807=) c.2751C>T (p.Ser917=) c.*1117C>T (n.*1117C>T) | gnomAD v4 |
| 4 | g.99622834A>C | CA357520818 | MTTP | c.2671A>C (p.Ser891Arg) c.2422A>C (p.Ser808Arg) c.2752A>C (p.Ser918Arg) c.*1118A>C (n.*1118A>C) | |
| 4 | g.99622834A>G | CA357520820 | MTTP | c.2671A>G (p.Ser891Gly) c.2422A>G (p.Ser808Gly) c.2752A>G (p.Ser918Gly) c.*1118A>G (n.*1118A>G) | |
| 4 | g.99622834A>T | CA357520823 | MTTP | c.2671A>T (p.Ser891Cys) c.2422A>T (p.Ser808Cys) c.2752A>T (p.Ser918Cys) c.*1118A>T (n.*1118A>T) | |
| 4 | g.99622835G>A | CA357520830 | MTTP | c.2672G>A (p.Ser891Asn) c.2423G>A (p.Ser808Asn) c.2753G>A (p.Ser918Asn) c.*1119G>A (n.*1119G>A) | |
| 4 | g.99622835G>C | CA357520832 | MTTP | c.2672G>C (p.Ser891Thr) c.2423G>C (p.Ser808Thr) c.2753G>C (p.Ser918Thr) c.*1119G>C (n.*1119G>C) | gnomAD v4 |
| 4 | g.99622835G>T | CA357520835 | MTTP | c.2672G>T (p.Ser891Ile) c.2423G>T (p.Ser808Ile) c.2753G>T (p.Ser918Ile) c.*1119G>T (n.*1119G>T) | |
| 4 | g.99622836C>A | CA357520838 | MTTP | c.2673C>A (p.Ser891Arg) c.2424C>A (p.Ser808Arg) c.2754C>A (p.Ser918Arg) c.*1120C>A (n.*1120C>A) | |
| 4 | g.99622836C= | CA1480088006 | MTTP | c.2673C= (p.Ser891=) c.2424C= (p.Ser808=) c.2754C= (p.Ser918=) c.*1120C= (n.*1120C=) | |
| 4 | g.99622836C>G | CA357520841 | MTTP | c.2673C>G (p.Ser891Arg) c.2424C>G (p.Ser808Arg) c.2754C>G (p.Ser918Arg) c.*1120C>G (n.*1120C>G) | |
| 4 | g.99622836C>T | CA3022427 | MTTP | c.2673C>T (p.Ser891=) c.2424C>T (p.Ser808=) c.2754C>T (p.Ser918=) c.*1120C>T (n.*1120C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99622837G>A | CA102652458 | MTTP | c.2674G>A (p.Gly892Arg) c.2425G>A (p.Gly809Arg) c.2755G>A (p.Gly919Arg) c.*1121G>A (n.*1121G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99622837G>C | CA357520848 | MTTP | c.2674G>C (p.Gly892Arg) c.2425G>C (p.Gly809Arg) c.2755G>C (p.Gly919Arg) c.*1121G>C (n.*1121G>C) | |
| 4 | g.99622837G= | CA1480088007 | MTTP | c.2674G= (p.Gly892=) c.2425G= (p.Gly809=) c.2755G= (p.Gly919=) c.*1121G= (n.*1121G=) | |
| 4 | g.99622837G>T | CA357520846 | MTTP | c.2674G>T (p.Gly892Ter) c.2425G>T (p.Gly809Ter) c.2755G>T (p.Gly919Ter) c.*1121G>T (n.*1121G>T) | |
| 4 | g.99622838G>A | CA357520857 | MTTP | c.2675G>A (p.Gly892Glu) c.2426G>A (p.Gly809Glu) c.2756G>A (p.Gly919Glu) c.*1122G>A (n.*1122G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.99622838G>C | CA357520851 | MTTP | c.2675G>C (p.Gly892Ala) c.2426G>C (p.Gly809Ala) c.2756G>C (p.Gly919Ala) c.*1122G>C (n.*1122G>C) | |
| 4 | g.99622838G= | CA1480088008 | MTTP | c.2675G= (p.Gly892=) c.2426G= (p.Gly809=) c.2756G= (p.Gly919=) c.*1122G= (n.*1122G=) | |
| 4 | g.99622838G>T | CA357520854 | MTTP | c.2675G>T (p.Gly892Val) c.2426G>T (p.Gly809Val) c.2756G>T (p.Gly919Val) c.*1122G>T (n.*1122G>T) | |
| 4 | g.99622839A>C | CA440333386 | MTTP | c.2676A>C (p.Gly892=) c.2427A>C (p.Gly809=) c.2757A>C (p.Gly919=) c.*1123A>C (n.*1123A>C) | |
| 4 | g.99622839A>G | CA440333387 | MTTP | c.2676A>G (p.Gly892=) c.2427A>G (p.Gly809=) c.2757A>G (p.Gly919=) c.*1123A>G (n.*1123A>G) | |
| 4 | g.99622839A>T | CA440333389 | MTTP | c.2676A>T (p.Gly892=) c.2427A>T (p.Gly809=) c.2757A>T (p.Gly919=) c.*1123A>T (n.*1123A>T) | |
| 4 | g.99622840T>A | CA357520859 | MTTP | c.2677T>A (p.Trp893Arg) c.2428T>A (p.Trp810Arg) c.2758T>A (p.Trp920Arg) c.*1124T>A (n.*1124T>A) | gnomAD v4 |
| 4 | g.99622840T>C | CA357520860 | MTTP | c.2677T>C (p.Trp893Arg) c.2428T>C (p.Trp810Arg) c.2758T>C (p.Trp920Arg) c.*1124T>C (n.*1124T>C) | |
| 4 | g.99622840T>G | CA357520863 | MTTP | c.2677T>G (p.Trp893Gly) c.2428T>G (p.Trp810Gly) c.2758T>G (p.Trp920Gly) c.*1124T>G (n.*1124T>G) | |
| 4 | g.99622841G>A | CA3022428 | MTTP | c.2678G>A (p.Trp893Ter) c.2429G>A (p.Trp810Ter) c.2759G>A (p.Trp920Ter) c.*1125G>A (n.*1125G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.99622841G>C | CA357520867 | MTTP | c.2678G>C (p.Trp893Ser) c.2429G>C (p.Trp810Ser) c.2759G>C (p.Trp920Ser) c.*1125G>C (n.*1125G>C) | |
| 4 | g.99622841G= | CA1480088009 | MTTP | c.2678G= (p.Trp893=) c.2429G= (p.Trp810=) c.2759G= (p.Trp920=) c.*1125G= (n.*1125G=) | |
| 4 | g.99622841G>T | CA357520869 | MTTP | c.2678G>T (p.Trp893Leu) c.2429G>T (p.Trp810Leu) c.2759G>T (p.Trp920Leu) c.*1125G>T (n.*1125G>T) | |
| 4 | g.99622842G>A | CA357520872 | MTTP | c.2679G>A (p.Trp893Ter) c.2430G>A (p.Trp810Ter) c.2760G>A (p.Trp920Ter) c.*1126G>A (n.*1126G>A) | |
| 4 | g.99622842G>C | CA357520874 | MTTP | c.2679G>C (p.Trp893Cys) c.2430G>C (p.Trp810Cys) c.2760G>C (p.Trp920Cys) c.*1126G>C (n.*1126G>C) | |
| 4 | g.99622842G>T | CA357520876 | MTTP | c.2679G>T (p.Trp893Cys) c.2430G>T (p.Trp810Cys) c.2760G>T (p.Trp920Cys) c.*1126G>T (n.*1126G>T) | |
| 4 | g.99622843T>A | CA357520883 | MTTP | c.2680T>A (p.Phe894Ile) c.2431T>A (p.Phe811Ile) c.2761T>A (p.Phe921Ile) c.*1127T>A (n.*1127T>A) | |
| 4 | g.99622843T>C | CA357520881 | MTTP | c.2680T>C (p.Phe894Leu) c.2431T>C (p.Phe811Leu) c.2761T>C (p.Phe921Leu) c.*1127T>C (n.*1127T>C) | |
| 4 | g.99622843T>G | CA357520878 | MTTP | c.2680T>G (p.Phe894Val) c.2431T>G (p.Phe811Val) c.2761T>G (p.Phe921Val) c.*1127T>G (n.*1127T>G) | |
| 4 | g.99622844T>A | CA357520887 | MTTP | c.2681T>A (p.Phe894Tyr) c.2432T>A (p.Phe811Tyr) c.2762T>A (p.Phe921Tyr) c.*1128T>A (n.*1128T>A) | |
| 4 | g.99622844T>C | CA357520889 | MTTP | c.2681T>C (p.Phe894Ser) c.2432T>C (p.Phe811Ser) c.2762T>C (p.Phe921Ser) c.*1128T>C (n.*1128T>C) | |
| 4 | g.99622844T>G | CA357520891 | MTTP | c.2681T>G (p.Phe894Cys) c.2432T>G (p.Phe811Cys) c.2762T>G (p.Phe921Cys) c.*1128T>G (n.*1128T>G) | |
| 4 | g.99622845T>A | CA357520895 | MTTP | c.2682T>A (p.Phe894Leu) c.2433T>A (p.Phe811Leu) c.2763T>A (p.Phe921Leu) c.*1129T>A (n.*1129T>A) | |
| 4 | g.99622845T>C | CA440333401 | MTTP | c.2682T>C (p.Phe894=) c.2433T>C (p.Phe811=) c.2763T>C (p.Phe921=) c.*1129T>C (n.*1129T>C) | |
| 4 | g.99622845T>G | CA357520897 | MTTP | c.2682T>G (p.Phe894Leu) c.2433T>G (p.Phe811Leu) c.2763T>G (p.Phe921Leu) c.*1129T>G (n.*1129T>G) | |
| 4 | g.99622845_99622846insCCC | CA3022429 | MTTP | c.2682_2683insCCC (p.Phe894_Ter895insPro) c.2433_2434insCCC (p.Phe811_Ter812insPro) c.2763_2764insCCC (p.Phe921_Ter922insPro) c.*1129_*1130insCCC (n.*1129_*1130insCCC) | ExAC gnomAD v4 |
| 4 | g.99622846T>A | CA357520903 | MTTP | c.2683T>A (p.Ter895Arg) c.2434T>A (p.Ter812Arg) c.2764T>A (p.Ter922Arg) c.*1130T>A (n.*1130T>A) | |
| 4 | g.99622846T>C | CA357520905 | MTTP | c.2683T>C (p.Ter895Arg) c.2434T>C (p.Ter812Arg) c.2764T>C (p.Ter922Arg) c.*1130T>C (n.*1130T>C) | |
| 4 | g.99622846T>G | CA357520907 | MTTP | c.2683T>G (p.Ter895Gly) c.2434T>G (p.Ter812Gly) c.2764T>G (p.Ter922Gly) c.*1130T>G (n.*1130T>G) | |
| 4 | g.99622846_99622847insAATCA | CA3022430 | MTTP | c.2683_2684insAATCA (p.Ter895=) c.2434_2435insAATCA (p.Ter812=) c.2764_2765insAATCA (p.Ter922=) c.*1130_*1131insAATCA (n.*1130_*1131insAATCA) | ExAC gnomAD v4 |
| 4 | g.99622847G>A | CA440333409 | MTTP | c.2684G>A (p.Ter895=) c.2435G>A (p.Ter812=) c.2765G>A (p.Ter922=) c.*1131G>A (n.*1131G>A) | |
| 4 | g.99622847G>C | CA357520913 | MTTP | c.2684G>C (p.Ter895Ser) c.2435G>C (p.Ter812Ser) c.2765G>C (p.Ter922Ser) c.*1131G>C (n.*1131G>C) | |
| 4 | g.99622847G>T | CA357520915 | MTTP | c.2684G>T (p.Ter895Leu) c.2435G>T (p.Ter812Leu) c.2765G>T (p.Ter922Leu) c.*1131G>T (n.*1131G>T) | |
| 4 | g.99622847_99622848insGAAA | CA3022431 | MTTP | c.2684_2685insGAAA (p.Ter895TrpextTer?) c.2435_2436insGAAA (p.Ter812TrpextTer?) c.2765_2766insGAAA (p.Ter922TrpextTer?) c.*1131_*1132insGAAA (n.*1131_*1132insGAAA) | ExAC |
| 4 | g.99622847_99622848insGAAAAAAAAAAAAAA | CA2671535544 | MTTP | c.2684_2685insGAAAAAAAAAAAAAA (p.Ter895delinsTrpLysLysLysLysLys) c.2435_2436insGAAAAAAAAAAAAAA (p.Ter812delinsTrpLysLysLysLysLys) c.2765_2766insGAAAAAAAAAAAAAA (p.Ter922delinsTrpLysLysLysLysLys) c.*1131_*1132insGAAAAAAAAAAAAAA (n.*1131_*1132insGAAAAAAAAAAAAAA) | gnomAD v4 |
| 4 | g.99622848A>C | CA357520925 | MTTP | c.2685A>C (p.Ter895Cys) c.2436A>C (p.Ter812Cys) c.2766A>C (p.Ter922Cys) c.*1132A>C (n.*1132A>C) | ClinVar |
| 4 | g.99622848A>G | CA357520922 | MTTP | c.2685A>G (p.Ter895Trp) c.2436A>G (p.Ter812Trp) c.2766A>G (p.Ter922Trp) c.*1132A>G (n.*1132A>G) | |
| 4 | g.99622848A>T | CA357520920 | MTTP | c.2685A>T (p.Ter895Cys) c.2436A>T (p.Ter812Cys) c.2766A>T (p.Ter922Cys) c.*1132A>T (n.*1132A>T) | |
| 4 | g.99622849A>C | CA2671535545 | MTTP | c.*1A>C (n.*1A>C) c.*1133A>C (n.*1133A>C) | gnomAD v4 |
| 4 | g.99622852T>C | CA800730482 | MTTP | c.*4T>C (n.*4T>C) c.*1136T>C (n.*1136T>C) | dbSNP gnomAD v4 |
| 4 | g.99622852T= | CA1480088010 | MTTP | c.*4T= (n.*4T=) c.*1136T= (n.*1136T=) | |
| 4 | g.99622853G>C | CA2578152536 | MTTP | c.*5G>C (n.*5G>C) c.*1137G>C (n.*1137G>C) | gnomAD v4 |
| 4 | g.99622854A= | CA1480088011 | MTTP | c.*6A= (n.*6A=) c.*1138A= (n.*1138A=) | |
| 4 | g.99622854A>T | CA3022432 | MTTP | c.*6A>T (n.*6A>T) c.*1138A>T (n.*1138A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99622855C= | CA1480088012 | MTTP | c.*7C= (n.*7C=) c.*1139C= (n.*1139C=) | |
| 4 | g.99622855C>T | CA800730495 | MTTP | c.*7C>T (n.*7C>T) c.*1139C>T (n.*1139C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.99622856C>G | CA2671535546 | MTTP | c.*8C>G (n.*8C>G) c.*1140C>G (n.*1140C>G) | gnomAD v4 |