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.99583322_99583324del | CA2671532872 | MTTP | c.250-52_250-50del (n.250-52_250-50del) c.1-52_1-50del (n.1-52_1-50del) c.*340-52_*340-50del (n.*340-52_*340-50del) c.280-52_280-50del (n.280-52_280-50del) c.331-52_331-50del (n.331-52_331-50del) c.*313-52_*313-50del (n.*313-52_*313-50del) | gnomAD v4 |
| 4 | g.99583324A= | CA1480066456 | MTTP | c.250-50A= (n.250-50A=) c.1-50A= (n.1-50A=) c.*340-50A= (n.*340-50A=) c.280-50A= (n.280-50A=) c.331-50A= (n.331-50A=) c.*313-50A= (n.*313-50A=) | |
| 4 | g.99583324A>G | CA1480066457 | MTTP | c.250-50A>G (n.250-50A>G) c.1-50A>G (n.1-50A>G) c.*340-50A>G (n.*340-50A>G) c.280-50A>G (n.280-50A>G) c.331-50A>G (n.331-50A>G) c.*313-50A>G (n.*313-50A>G) | dbSNP |
| 4 | g.99583325A>C | CA2671532877 | MTTP | c.250-49A>C (n.250-49A>C) c.1-49A>C (n.1-49A>C) c.*340-49A>C (n.*340-49A>C) c.280-49A>C (n.280-49A>C) c.331-49A>C (n.331-49A>C) c.*313-49A>C (n.*313-49A>C) | gnomAD v4 |
| 4 | g.99583330_99583331del | CA2671532878 | MTTP | c.250-44_250-43del (n.250-44_250-43del) c.1-44_1-43del (n.1-44_1-43del) c.*340-44_*340-43del (n.*340-44_*340-43del) c.280-44_280-43del (n.280-44_280-43del) c.331-44_331-43del (n.331-44_331-43del) c.*313-44_*313-43del (n.*313-44_*313-43del) | gnomAD v4 |
| 4 | g.99583330G>C | CA2671532879 | MTTP | c.250-44G>C (n.250-44G>C) c.1-44G>C (n.1-44G>C) c.*340-44G>C (n.*340-44G>C) c.280-44G>C (n.280-44G>C) c.331-44G>C (n.331-44G>C) c.*313-44G>C (n.*313-44G>C) | gnomAD v4 |
| 4 | g.99583331A>G | CA2671532880 | MTTP | c.250-43A>G (n.250-43A>G) c.1-43A>G (n.1-43A>G) c.*340-43A>G (n.*340-43A>G) c.280-43A>G (n.280-43A>G) c.331-43A>G (n.331-43A>G) c.*313-43A>G (n.*313-43A>G) | gnomAD v4 |
| 4 | g.99583332T>C | CA2671532881 | MTTP | c.250-42T>C (n.250-42T>C) c.1-42T>C (n.1-42T>C) c.*340-42T>C (n.*340-42T>C) c.280-42T>C (n.280-42T>C) c.331-42T>C (n.331-42T>C) c.*313-42T>C (n.*313-42T>C) | gnomAD v4 |
| 4 | g.99583333A>G | CA2671532882 | MTTP | c.250-41A>G (n.250-41A>G) c.1-41A>G (n.1-41A>G) c.*340-41A>G (n.*340-41A>G) c.280-41A>G (n.280-41A>G) c.331-41A>G (n.331-41A>G) c.*313-41A>G (n.*313-41A>G) | gnomAD v4 |
| 4 | g.99583334T>A | CA2555156919 | MTTP | c.250-40T>A (n.250-40T>A) c.1-40T>A (n.1-40T>A) c.*340-40T>A (n.*340-40T>A) c.280-40T>A (n.280-40T>A) c.331-40T>A (n.331-40T>A) c.*313-40T>A (n.*313-40T>A) | |
| 4 | g.99583334T>C | CA3021780 | MTTP | c.250-40T>C (n.250-40T>C) c.1-40T>C (n.1-40T>C) c.*340-40T>C (n.*340-40T>C) c.280-40T>C (n.280-40T>C) c.331-40T>C (n.331-40T>C) c.*313-40T>C (n.*313-40T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99583334T= | CA1480066460 | MTTP | c.250-40T= (n.250-40T=) c.1-40T= (n.1-40T=) c.*340-40T= (n.*340-40T=) c.280-40T= (n.280-40T=) c.331-40T= (n.331-40T=) c.*313-40T= (n.*313-40T=) | |
| 4 | g.99583336G>A | CA3021782 | MTTP | c.250-38G>A (n.250-38G>A) c.1-38G>A (n.1-38G>A) c.*340-38G>A (n.*340-38G>A) c.280-38G>A (n.280-38G>A) c.331-38G>A (n.331-38G>A) c.*313-38G>A (n.*313-38G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.99583336G>C | CA3021781 | MTTP | c.250-38G>C (n.250-38G>C) c.1-38G>C (n.1-38G>C) c.*340-38G>C (n.*340-38G>C) c.280-38G>C (n.280-38G>C) c.331-38G>C (n.331-38G>C) c.*313-38G>C (n.*313-38G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99583336G= | CA1480066462 | MTTP | c.250-38G= (n.250-38G=) c.1-38G= (n.1-38G=) c.*340-38G= (n.*340-38G=) c.280-38G= (n.280-38G=) c.331-38G= (n.331-38G=) c.*313-38G= (n.*313-38G=) | |
| 4 | g.99583337G>A | CA2671532883 | MTTP | c.250-37G>A (n.250-37G>A) c.1-37G>A (n.1-37G>A) c.*340-37G>A (n.*340-37G>A) c.280-37G>A (n.280-37G>A) c.331-37G>A (n.331-37G>A) c.*313-37G>A (n.*313-37G>A) | gnomAD v4 |
| 4 | g.99583338A>G | CA2578152139 | MTTP | c.250-36A>G (n.250-36A>G) c.1-36A>G (n.1-36A>G) c.*340-36A>G (n.*340-36A>G) c.280-36A>G (n.280-36A>G) c.331-36A>G (n.331-36A>G) c.*313-36A>G (n.*313-36A>G) | |
| 4 | g.99583339A= | CA1480066464 | MTTP | c.250-35A= (n.250-35A=) c.1-35A= (n.1-35A=) c.*340-35A= (n.*340-35A=) c.280-35A= (n.280-35A=) c.331-35A= (n.331-35A=) c.*313-35A= (n.*313-35A=) | |
| 4 | g.99583339A>C | CA3021783 | MTTP | c.250-35A>C (n.250-35A>C) c.1-35A>C (n.1-35A>C) c.*340-35A>C (n.*340-35A>C) c.280-35A>C (n.280-35A>C) c.331-35A>C (n.331-35A>C) c.*313-35A>C (n.*313-35A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.99583340G= | CA1480066467 | MTTP | c.250-34G= (n.250-34G=) c.1-34G= (n.1-34G=) c.*340-34G= (n.*340-34G=) c.280-34G= (n.280-34G=) c.331-34G= (n.331-34G=) c.*313-34G= (n.*313-34G=) | |
| 4 | g.99583340G>T | CA3021786 | MTTP | c.250-34G>T (n.250-34G>T) c.1-34G>T (n.1-34G>T) c.*340-34G>T (n.*340-34G>T) c.280-34G>T (n.280-34G>T) c.331-34G>T (n.331-34G>T) c.*313-34G>T (n.*313-34G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.99583340_99583341delinsGT | CA1480066466 | MTTP | c.250-34_250-33delinsGT (n.250-34_250-33delinsGT) c.1-34_1-33delinsGT (n.1-34_1-33delinsGT) c.*340-34_*340-33delinsGT (n.*340-34_*340-33delinsGT) c.280-34_280-33delinsGT (n.280-34_280-33delinsGT) c.331-34_331-33delinsGT (n.331-34_331-33delinsGT) c.*313-34_*313-33delinsGT (n.*313-34_*313-33delinsGT) | |
| 4 | g.99583341T>A | CA3021787 | MTTP | c.250-33T>A (n.250-33T>A) c.1-33T>A (n.1-33T>A) c.*340-33T>A (n.*340-33T>A) c.280-33T>A (n.280-33T>A) c.331-33T>A (n.331-33T>A) c.*313-33T>A (n.*313-33T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.99583341T>C | CA553568362 | MTTP | c.250-33T>C (n.250-33T>C) c.1-33T>C (n.1-33T>C) c.*340-33T>C (n.*340-33T>C) c.280-33T>C (n.280-33T>C) c.331-33T>C (n.331-33T>C) c.*313-33T>C (n.*313-33T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.99583341T>G | CA2671532884 | MTTP | c.250-33T>G (n.250-33T>G) c.1-33T>G (n.1-33T>G) c.*340-33T>G (n.*340-33T>G) c.280-33T>G (n.280-33T>G) c.331-33T>G (n.331-33T>G) c.*313-33T>G (n.*313-33T>G) | gnomAD v4 |
| 4 | g.99583341T= | CA1480066477 | MTTP | c.250-33T= (n.250-33T=) c.1-33T= (n.1-33T=) c.*340-33T= (n.*340-33T=) c.280-33T= (n.280-33T=) c.331-33T= (n.331-33T=) c.*313-33T= (n.*313-33T=) | |
| 4 | g.99583348dup | CA3021785 | MTTP | c.250-26dup (n.250-26dup) c.1-26dup (n.1-26dup) c.*340-26dup (n.*340-26dup) c.280-26dup (n.280-26dup) c.331-26dup (n.331-26dup) c.*313-26dup (n.*313-26dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.99583348del | CA3021784 | MTTP | c.250-26del (n.250-26del) c.1-26del (n.1-26del) c.*340-26del (n.*340-26del) c.280-26del (n.280-26del) c.331-26del (n.331-26del) c.*313-26del (n.*313-26del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99583343T>C | CA2578152141 | MTTP | c.250-31T>C (n.250-31T>C) c.1-31T>C (n.1-31T>C) c.*340-31T>C (n.*340-31T>C) c.280-31T>C (n.280-31T>C) c.331-31T>C (n.331-31T>C) c.*313-31T>C (n.*313-31T>C) | |
| 4 | g.99583344T>C | CA2671532885 | MTTP | c.250-30T>C (n.250-30T>C) c.1-30T>C (n.1-30T>C) c.*340-30T>C (n.*340-30T>C) c.280-30T>C (n.280-30T>C) c.331-30T>C (n.331-30T>C) c.*313-30T>C (n.*313-30T>C) | gnomAD v4 |
| 4 | g.99583346T>A | CA1065939206 | MTTP | c.250-28T>A (n.250-28T>A) c.1-28T>A (n.1-28T>A) c.*340-28T>A (n.*340-28T>A) c.280-28T>A (n.280-28T>A) c.331-28T>A (n.331-28T>A) c.*313-28T>A (n.*313-28T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.99583346T>C | CA3021788 | MTTP | c.250-28T>C (n.250-28T>C) c.1-28T>C (n.1-28T>C) c.*340-28T>C (n.*340-28T>C) c.280-28T>C (n.280-28T>C) c.331-28T>C (n.331-28T>C) c.*313-28T>C (n.*313-28T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99583346T= | CA1480066482 | MTTP | c.250-28T= (n.250-28T=) c.1-28T= (n.1-28T=) c.*340-28T= (n.*340-28T=) c.280-28T= (n.280-28T=) c.331-28T= (n.331-28T=) c.*313-28T= (n.*313-28T=) | |
| 4 | g.99583347T>C | CA553568363 | MTTP | c.250-27T>C (n.250-27T>C) c.1-27T>C (n.1-27T>C) c.*340-27T>C (n.*340-27T>C) c.280-27T>C (n.280-27T>C) c.331-27T>C (n.331-27T>C) c.*313-27T>C (n.*313-27T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99583347T= | CA1480066484 | MTTP | c.250-27T= (n.250-27T=) c.1-27T= (n.1-27T=) c.*340-27T= (n.*340-27T=) c.280-27T= (n.280-27T=) c.331-27T= (n.331-27T=) c.*313-27T= (n.*313-27T=) | |
| 4 | g.99583348T= | CA1480066486 | MTTP | c.250-26T= (n.250-26T=) c.1-26T= (n.1-26T=) c.*340-26T= (n.*340-26T=) c.280-26T= (n.280-26T=) c.331-26T= (n.331-26T=) c.*313-26T= (n.*313-26T=) | |
| 4 | g.99583348_99583354delinsTAACAGC | CA1480066487 | MTTP | c.250-26_250-20delinsTAACAGC (n.250-26_250-20delinsTAACAGC) c.1-26_1-20delinsTAACAGC (n.1-26_1-20delinsTAACAGC) c.*340-26_*340-20delinsTAACAGC (n.*340-26_*340-20delinsTAACAGC) c.280-26_280-20delinsTAACAGC (n.280-26_280-20delinsTAACAGC) c.331-26_331-20delinsTAACAGC (n.331-26_331-20delinsTAACAGC) c.*313-26_*313-20delinsTAACAGC (n.*313-26_*313-20delinsTAACAGC) | |
| 4 | g.99583349A= | CA1480066489 | MTTP | c.250-25A= (n.250-25A=) c.1-25A= (n.1-25A=) c.*340-25A= (n.*340-25A=) c.280-25A= (n.280-25A=) c.331-25A= (n.331-25A=) c.*313-25A= (n.*313-25A=) | |
| 4 | g.99583349A>G | CA2671532887 | MTTP | c.250-25A>G (n.250-25A>G) c.1-25A>G (n.1-25A>G) c.*340-25A>G (n.*340-25A>G) c.280-25A>G (n.280-25A>G) c.331-25A>G (n.331-25A>G) c.*313-25A>G (n.*313-25A>G) | gnomAD v4 |
| 4 | g.99583349A>T | CA800747286 | MTTP | c.250-25A>T (n.250-25A>T) c.1-25A>T (n.1-25A>T) c.*340-25A>T (n.*340-25A>T) c.280-25A>T (n.280-25A>T) c.331-25A>T (n.331-25A>T) c.*313-25A>T (n.*313-25A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.99583350dup | CA553568364 | MTTP | c.250-24dup (n.250-24dup) c.1-24dup (n.1-24dup) c.*340-24dup (n.*340-24dup) c.280-24dup (n.280-24dup) c.331-24dup (n.331-24dup) c.*313-24dup (n.*313-24dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99583350del | CA2671532886 | MTTP | c.250-24del (n.250-24del) c.1-24del (n.1-24del) c.*340-24del (n.*340-24del) c.280-24del (n.280-24del) c.331-24del (n.331-24del) c.*313-24del (n.*313-24del) | gnomAD v4 |
| 4 | g.99583349_99583354del | CA553568366 | MTTP | c.250-25_250-20del (n.250-25_250-20del) c.1-25_1-20del (n.1-25_1-20del) c.*340-25_*340-20del (n.*340-25_*340-20del) c.280-25_280-20del (n.280-25_280-20del) c.331-25_331-20del (n.331-25_331-20del) c.*313-25_*313-20del (n.*313-25_*313-20del) | dbSNP gnomAD v2 |
| 4 | g.99583351C= | CA1480066496 | MTTP | c.250-23C= (n.250-23C=) c.1-23C= (n.1-23C=) c.*340-23C= (n.*340-23C=) c.280-23C= (n.280-23C=) c.331-23C= (n.331-23C=) c.*313-23C= (n.*313-23C=) | |
| 4 | g.99583351C>T | CA102617354 | MTTP | c.250-23C>T (n.250-23C>T) c.1-23C>T (n.1-23C>T) c.*340-23C>T (n.*340-23C>T) c.280-23C>T (n.280-23C>T) c.331-23C>T (n.331-23C>T) c.*313-23C>T (n.*313-23C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.99583351_99583355delinsCAGCT | CA1480066498 | MTTP | c.250-23_250-19delinsCAGCT (n.250-23_250-19delinsCAGCT) c.1-23_1-19delinsCAGCT (n.1-23_1-19delinsCAGCT) c.*340-23_*340-19delinsCAGCT (n.*340-23_*340-19delinsCAGCT) c.280-23_280-19delinsCAGCT (n.280-23_280-19delinsCAGCT) c.331-23_331-19delinsCAGCT (n.331-23_331-19delinsCAGCT) c.*313-23_*313-19delinsCAGCT (n.*313-23_*313-19delinsCAGCT) | |
| 4 | g.99583352_99583355del | CA553568440 | MTTP | c.250-22_250-19del (n.250-22_250-19del) c.1-22_1-19del (n.1-22_1-19del) c.*340-22_*340-19del (n.*340-22_*340-19del) c.280-22_280-19del (n.280-22_280-19del) c.331-22_331-19del (n.331-22_331-19del) c.*313-22_*313-19del (n.*313-22_*313-19del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99583353G>A | CA3021789 | MTTP | c.250-21G>A (n.250-21G>A) c.1-21G>A (n.1-21G>A) c.*340-21G>A (n.*340-21G>A) c.280-21G>A (n.280-21G>A) c.331-21G>A (n.331-21G>A) c.*313-21G>A (n.*313-21G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99583353G= | CA1480066505 | MTTP | c.250-21G= (n.250-21G=) c.1-21G= (n.1-21G=) c.*340-21G= (n.*340-21G=) c.280-21G= (n.280-21G=) c.331-21G= (n.331-21G=) c.*313-21G= (n.*313-21G=) | |
| 4 | g.99583353G>T | CA102617370 | MTTP | c.250-21G>T (n.250-21G>T) c.1-21G>T (n.1-21G>T) c.*340-21G>T (n.*340-21G>T) c.280-21G>T (n.280-21G>T) c.331-21G>T (n.331-21G>T) c.*313-21G>T (n.*313-21G>T) | dbSNP |
| 4 | g.99583354C>A | CA3021790 | MTTP | c.250-20C>A (n.250-20C>A) c.1-20C>A (n.1-20C>A) c.*340-20C>A (n.*340-20C>A) c.280-20C>A (n.280-20C>A) c.331-20C>A (n.331-20C>A) c.*313-20C>A (n.*313-20C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.99583354C= | CA1480066508 | MTTP | c.250-20C= (n.250-20C=) c.1-20C= (n.1-20C=) c.*340-20C= (n.*340-20C=) c.280-20C= (n.280-20C=) c.331-20C= (n.331-20C=) c.*313-20C= (n.*313-20C=) | |
| 4 | g.99583354C>T | CA2671532888 | MTTP | c.250-20C>T (n.250-20C>T) c.1-20C>T (n.1-20C>T) c.*340-20C>T (n.*340-20C>T) c.280-20C>T (n.280-20C>T) c.331-20C>T (n.331-20C>T) c.*313-20C>T (n.*313-20C>T) | gnomAD v4 |
| 4 | g.99583355T>A | CA2578152142 | MTTP | c.250-19T>A (n.250-19T>A) c.1-19T>A (n.1-19T>A) c.*340-19T>A (n.*340-19T>A) c.280-19T>A (n.280-19T>A) c.331-19T>A (n.331-19T>A) c.*313-19T>A (n.*313-19T>A) | gnomAD v4 |
| 4 | g.99583357_99583358insTTTTTT | CA553568441 | MTTP | c.250-17_250-16insTTTTTT (n.250-17_250-16insTTTTTT) c.1-17_1-16insTTTTTT (n.1-17_1-16insTTTTTT) c.*340-17_*340-16insTTTTTT (n.*340-17_*340-16insTTTTTT) c.280-17_280-16insTTTTTT (n.280-17_280-16insTTTTTT) c.331-17_331-16insTTTTTT (n.331-17_331-16insTTTTTT) c.*313-17_*313-16insTTTTTT (n.*313-17_*313-16insTTTTTT) | dbSNP gnomAD v2 |
| 4 | g.99583356T>A | CA553568442 | MTTP | c.250-18T>A (n.250-18T>A) c.1-18T>A (n.1-18T>A) c.*340-18T>A (n.*340-18T>A) c.280-18T>A (n.280-18T>A) c.331-18T>A (n.331-18T>A) c.*313-18T>A (n.*313-18T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.99583356T= | CA1480066513 | MTTP | c.250-18T= (n.250-18T=) c.1-18T= (n.1-18T=) c.*340-18T= (n.*340-18T=) c.280-18T= (n.280-18T=) c.331-18T= (n.331-18T=) c.*313-18T= (n.*313-18T=) | |
| 4 | g.99583358C>A | CA553568443 | MTTP | c.250-16C>A (n.250-16C>A) c.1-16C>A (n.1-16C>A) c.*340-16C>A (n.*340-16C>A) c.280-16C>A (n.280-16C>A) c.331-16C>A (n.331-16C>A) c.*313-16C>A (n.*313-16C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.99583358C= | CA1480066516 | MTTP | c.250-16C= (n.250-16C=) c.1-16C= (n.1-16C=) c.*340-16C= (n.*340-16C=) c.280-16C= (n.280-16C=) c.331-16C= (n.331-16C=) c.*313-16C= (n.*313-16C=) | |
| 4 | g.99583361T>C | CA2671532889 | MTTP | c.250-13T>C (n.250-13T>C) c.1-13T>C (n.1-13T>C) c.*340-13T>C (n.*340-13T>C) c.280-13T>C (n.280-13T>C) c.331-13T>C (n.331-13T>C) c.*313-13T>C (n.*313-13T>C) | gnomAD v4 |
| 4 | g.99583362C>G | CA2671532890 | MTTP | c.250-12C>G (n.250-12C>G) c.1-12C>G (n.1-12C>G) c.*340-12C>G (n.*340-12C>G) c.280-12C>G (n.280-12C>G) c.331-12C>G (n.331-12C>G) c.*313-12C>G (n.*313-12C>G) | gnomAD v4 |
| 4 | g.99583363T>G | CA2762811567 | MTTP | c.250-11T>G (n.250-11T>G) c.1-11T>G (n.1-11T>G) c.*340-11T>G (n.*340-11T>G) c.280-11T>G (n.280-11T>G) c.331-11T>G (n.331-11T>G) c.*313-11T>G (n.*313-11T>G) | |
| 4 | g.99583364G>C | CA440328584 | MTTP | c.250-10G>C (n.250-10G>C) c.1-10G>C (n.1-10G>C) c.*340-10G>C (n.*340-10G>C) c.280-10G>C (n.280-10G>C) c.331-10G>C (n.331-10G>C) c.*313-10G>C (n.*313-10G>C) | ClinVar dbSNP |
| 4 | g.99583364G= | CA1480066519 | MTTP | c.250-10G= (n.250-10G=) c.1-10G= (n.1-10G=) c.*340-10G= (n.*340-10G=) c.280-10G= (n.280-10G=) c.331-10G= (n.331-10G=) c.*313-10G= (n.*313-10G=) | |
| 4 | g.99583364G>T | CA3021791 | MTTP | c.250-10G>T (n.250-10G>T) c.1-10G>T (n.1-10G>T) c.*340-10G>T (n.*340-10G>T) c.280-10G>T (n.280-10G>T) c.331-10G>T (n.331-10G>T) c.*313-10G>T (n.*313-10G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.99583366T>G | CA553568444 | MTTP | c.250-8T>G (n.250-8T>G) c.1-8T>G (n.1-8T>G) c.*340-8T>G (n.*340-8T>G) c.280-8T>G (n.280-8T>G) c.331-8T>G (n.331-8T>G) c.*313-8T>G (n.*313-8T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.99583366T= | CA1480066520 | MTTP | c.250-8T= (n.250-8T=) c.1-8T= (n.1-8T=) c.*340-8T= (n.*340-8T=) c.280-8T= (n.280-8T=) c.331-8T= (n.331-8T=) c.*313-8T= (n.*313-8T=) | |
| 4 | g.99583367A>G | CA2578152143 | MTTP | c.250-7A>G (n.250-7A>G) c.1-7A>G (n.1-7A>G) c.*340-7A>G (n.*340-7A>G) c.280-7A>G (n.280-7A>G) c.331-7A>G (n.331-7A>G) c.*313-7A>G (n.*313-7A>G) | gnomAD v4 |
| 4 | g.99583368C>A | CA2671532891 | MTTP | c.250-6C>A (n.250-6C>A) c.1-6C>A (n.1-6C>A) c.*340-6C>A (n.*340-6C>A) c.280-6C>A (n.280-6C>A) c.331-6C>A (n.331-6C>A) c.*313-6C>A (n.*313-6C>A) | gnomAD v4 |
| 4 | g.99583368C>T | CA2671532892 | MTTP | c.250-6C>T (n.250-6C>T) c.1-6C>T (n.1-6C>T) c.*340-6C>T (n.*340-6C>T) c.280-6C>T (n.280-6C>T) c.331-6C>T (n.331-6C>T) c.*313-6C>T (n.*313-6C>T) | gnomAD v4 |
| 4 | g.99583369T>C | CA2671532893 | MTTP | c.250-5T>C (n.250-5T>C) c.1-5T>C (n.1-5T>C) c.*340-5T>C (n.*340-5T>C) c.280-5T>C (n.280-5T>C) c.331-5T>C (n.331-5T>C) c.*313-5T>C (n.*313-5T>C) | gnomAD v4 |
| 4 | g.99583371C>A | CA3021792 | MTTP | c.250-3C>A (n.250-3C>A) c.1-3C>A (n.1-3C>A) c.*340-3C>A (n.*340-3C>A) c.280-3C>A (n.280-3C>A) c.331-3C>A (n.331-3C>A) c.*313-3C>A (n.*313-3C>A) | dbSNP ExAC gnomAD v2 |
| 4 | g.99583371C= | CA1480066522 | MTTP | c.250-3C= (n.250-3C=) c.1-3C= (n.1-3C=) c.*340-3C= (n.*340-3C=) c.280-3C= (n.280-3C=) c.331-3C= (n.331-3C=) c.*313-3C= (n.*313-3C=) | |
| 4 | g.99583371C>T | CA2671532894 | MTTP | c.250-3C>T (n.250-3C>T) c.1-3C>T (n.1-3C>T) c.*340-3C>T (n.*340-3C>T) c.280-3C>T (n.280-3C>T) c.331-3C>T (n.331-3C>T) c.*313-3C>T (n.*313-3C>T) | gnomAD v4 |
| 4 | g.99583372A>C | CA357501915 | MTTP | c.250-2A>C (n.250-2A>C) c.1-2A>C (n.1-2A>C) c.*340-2A>C (n.*340-2A>C) c.280-2A>C (n.280-2A>C) c.331-2A>C (n.331-2A>C) c.*313-2A>C (n.*313-2A>C) | |
| 4 | g.99583372A>G | CA357501917 | MTTP | c.250-2A>G (n.250-2A>G) c.1-2A>G (n.1-2A>G) c.*340-2A>G (n.*340-2A>G) c.280-2A>G (n.280-2A>G) c.331-2A>G (n.331-2A>G) c.*313-2A>G (n.*313-2A>G) | |
| 4 | g.99583372A>T | CA357501919 | MTTP | c.250-2A>T (n.250-2A>T) c.1-2A>T (n.1-2A>T) c.*340-2A>T (n.*340-2A>T) c.280-2A>T (n.280-2A>T) c.331-2A>T (n.331-2A>T) c.*313-2A>T (n.*313-2A>T) | |
| 4 | g.99583373G>A | CA357501921 | MTTP | c.250-1G>A (n.250-1G>A) c.1-1G>A (n.1-1G>A) c.*340-1G>A (n.*340-1G>A) c.280-1G>A (n.280-1G>A) c.331-1G>A (n.331-1G>A) c.*313-1G>A (n.*313-1G>A) | |
| 4 | g.99583373G>C | CA357501923 | MTTP | c.250-1G>C (n.250-1G>C) c.1-1G>C (n.1-1G>C) c.*340-1G>C (n.*340-1G>C) c.280-1G>C (n.280-1G>C) c.331-1G>C (n.331-1G>C) c.*313-1G>C (n.*313-1G>C) | |
| 4 | g.99583373G>T | CA357501924 | MTTP | c.250-1G>T (n.250-1G>T) c.1-1G>T (n.1-1G>T) c.*340-1G>T (n.*340-1G>T) c.280-1G>T (n.280-1G>T) c.331-1G>T (n.331-1G>T) c.*313-1G>T (n.*313-1G>T) | |
| 4 | g.99583374A= | CA1480066524 | MTTP | c.250A= (p.Met84=) c.1A= (p.Met1=) c.*340A= (n.*340A=) c.280A= (p.Met94=) c.331A= (p.Met111=) c.*313A= (n.*313A=) | |
| 4 | g.99583374A>C | CA357501925 | MTTP | c.250A>C (p.Met84Leu) c.1A>C (p.Met1Leu) c.*340A>C (n.*340A>C) c.280A>C (p.Met94Leu) c.331A>C (p.Met111Leu) c.*313A>C (n.*313A>C) | |
| 4 | g.99583374A>G | CA357501926 | MTTP | c.250A>G (p.Met84Val) c.1A>G (p.Met1Val) c.*340A>G (n.*340A>G) c.280A>G (p.Met94Val) c.331A>G (p.Met111Val) c.*313A>G (n.*313A>G) | |
| 4 | g.99583374A>T | CA3021793 | MTTP | c.250A>T (p.Met84Leu) c.1A>T (p.Met1Leu) c.*340A>T (n.*340A>T) c.280A>T (p.Met94Leu) c.331A>T (p.Met111Leu) c.*313A>T (n.*313A>T) | ClinVar dbSNP ExAC gnomAD v4 |
| 4 | g.99583375T>A | CA357501928 | MTTP | c.251T>A (p.Met84Lys) c.2T>A (p.Met1Lys) c.*341T>A (n.*341T>A) c.281T>A (p.Met94Lys) c.332T>A (p.Met111Lys) c.*314T>A (n.*314T>A) | dbSNP gnomAD v4 |
| 4 | g.99583375T>C | CA102617399 | MTTP | c.251T>C (p.Met84Thr) c.2T>C (p.Met1Thr) c.*341T>C (n.*341T>C) c.281T>C (p.Met94Thr) c.332T>C (p.Met111Thr) c.*314T>C (n.*314T>C) | dbSNP gnomAD v4 |
| 4 | g.99583375T>G | CA357501927 | MTTP | c.251T>G (p.Met84Arg) c.2T>G (p.Met1Arg) c.*341T>G (n.*341T>G) c.281T>G (p.Met94Arg) c.332T>G (p.Met111Arg) c.*314T>G (n.*314T>G) | |
| 4 | g.99583375T= | CA1480066527 | MTTP | c.251T= (p.Met84=) c.2T= (p.Met1=) c.*341T= (n.*341T=) c.281T= (p.Met94=) c.332T= (p.Met111=) c.*314T= (n.*314T=) | |
| 4 | g.99583376G>A | CA357501930 | MTTP | c.252G>A (p.Met84Ile) c.3G>A (p.Met1Ile) c.*342G>A (n.*342G>A) c.282G>A (p.Met94Ile) c.333G>A (p.Met111Ile) c.*315G>A (n.*315G>A) | dbSNP |
| 4 | g.99583376G>C | CA357501932 | MTTP | c.252G>C (p.Met84Ile) c.3G>C (p.Met1Ile) c.*342G>C (n.*342G>C) c.282G>C (p.Met94Ile) c.333G>C (p.Met111Ile) c.*315G>C (n.*315G>C) | |
| 4 | g.99583376G>T | CA357501933 | MTTP | c.252G>T (p.Met84Ile) c.3G>T (p.Met1Ile) c.*342G>T (n.*342G>T) c.282G>T (p.Met94Ile) c.333G>T (p.Met111Ile) c.*315G>T (n.*315G>T) | |
| 4 | g.99583377A>C | CA357501935 | MTTP | c.253A>C (p.Lys85Gln) c.4A>C (p.Lys2Gln) c.*343A>C (n.*343A>C) c.283A>C (p.Lys95Gln) c.334A>C (p.Lys112Gln) c.*316A>C (n.*316A>C) | |
| 4 | g.99583377A>G | CA357501937 | MTTP | c.253A>G (p.Lys85Glu) c.4A>G (p.Lys2Glu) c.*343A>G (n.*343A>G) c.283A>G (p.Lys95Glu) c.334A>G (p.Lys112Glu) c.*316A>G (n.*316A>G) | |
| 4 | g.99583377A>T | CA357501938 | MTTP | c.253A>T (p.Lys85Ter) c.4A>T (p.Lys2Ter) c.*343A>T (n.*343A>T) c.283A>T (p.Lys95Ter) c.334A>T (p.Lys112Ter) c.*316A>T (n.*316A>T) | |
| 4 | g.99583378A>C | CA357501944 | MTTP | c.254A>C (p.Lys85Thr) c.5A>C (p.Lys2Thr) c.*344A>C (n.*344A>C) c.284A>C (p.Lys95Thr) c.335A>C (p.Lys112Thr) c.*317A>C (n.*317A>C) | gnomAD v4 |
| 4 | g.99583378A>G | CA357501948 | MTTP | c.254A>G (p.Lys85Arg) c.5A>G (p.Lys2Arg) c.*344A>G (n.*344A>G) c.284A>G (p.Lys95Arg) c.335A>G (p.Lys112Arg) c.*317A>G (n.*317A>G) | COSMIC |
| 4 | g.99583378A>T | CA357501946 | MTTP | c.254A>T (p.Lys85Met) c.5A>T (p.Lys2Met) c.*344A>T (n.*344A>T) c.284A>T (p.Lys95Met) c.335A>T (p.Lys112Met) c.*317A>T (n.*317A>T) | |
| 4 | g.99583379G>A | CA440328585 | MTTP | c.255G>A (p.Lys85=) c.6G>A (p.Lys2=) c.*345G>A (n.*345G>A) c.285G>A (p.Lys95=) c.336G>A (p.Lys112=) c.*318G>A (n.*318G>A) | dbSNP gnomAD v4 |
| 4 | g.99583379G>C | CA357501951 | MTTP | c.255G>C (p.Lys85Asn) c.6G>C (p.Lys2Asn) c.*345G>C (n.*345G>C) c.285G>C (p.Lys95Asn) c.336G>C (p.Lys112Asn) c.*318G>C (n.*318G>C) | |
| 4 | g.99583379G= | CA1480066530 | MTTP | c.255G= (p.Lys85=) c.6G= (p.Lys2=) c.*345G= (n.*345G=) c.285G= (p.Lys95=) c.336G= (p.Lys112=) c.*318G= (n.*318G=) | |
| 4 | g.99583379G>T | CA357501953 | MTTP | c.255G>T (p.Lys85Asn) c.6G>T (p.Lys2Asn) c.*345G>T (n.*345G>T) c.285G>T (p.Lys95Asn) c.336G>T (p.Lys112Asn) c.*318G>T (n.*318G>T) | |
| 4 | g.99583380G>A | CA357501954 | MTTP | c.256G>A (p.Asp86Asn) c.7G>A (p.Asp3Asn) c.*346G>A (n.*346G>A) c.286G>A (p.Asp96Asn) c.337G>A (p.Asp113Asn) c.*319G>A (n.*319G>A) | |
| 4 | g.99583380G>C | CA357501956 | MTTP | c.256G>C (p.Asp86His) c.7G>C (p.Asp3His) c.*346G>C (n.*346G>C) c.286G>C (p.Asp96His) c.337G>C (p.Asp113His) c.*319G>C (n.*319G>C) | |
| 4 | g.99583380G>T | CA357501958 | MTTP | c.256G>T (p.Asp86Tyr) c.7G>T (p.Asp3Tyr) c.*346G>T (n.*346G>T) c.286G>T (p.Asp96Tyr) c.337G>T (p.Asp113Tyr) c.*319G>T (n.*319G>T) | gnomAD v4 |
| 4 | g.99583381A>C | CA357501961 | MTTP | c.257A>C (p.Asp86Ala) c.8A>C (p.Asp3Ala) c.*347A>C (n.*347A>C) c.287A>C (p.Asp96Ala) c.338A>C (p.Asp113Ala) c.*320A>C (n.*320A>C) | |
| 4 | g.99583381A>G | CA357501965 | MTTP | c.257A>G (p.Asp86Gly) c.8A>G (p.Asp3Gly) c.*347A>G (n.*347A>G) c.287A>G (p.Asp96Gly) c.338A>G (p.Asp113Gly) c.*320A>G (n.*320A>G) | |
| 4 | g.99583381A>T | CA357501960 | MTTP | c.257A>T (p.Asp86Val) c.8A>T (p.Asp3Val) c.*347A>T (n.*347A>T) c.287A>T (p.Asp96Val) c.338A>T (p.Asp113Val) c.*320A>T (n.*320A>T) | |
| 4 | g.99583382T>A | CA357501968 | MTTP | c.258T>A (p.Asp86Glu) c.9T>A (p.Asp3Glu) c.*348T>A (n.*348T>A) c.288T>A (p.Asp96Glu) c.339T>A (p.Asp113Glu) c.*321T>A (n.*321T>A) | |
| 4 | g.99583382T>C | CA102617412 | MTTP | c.258T>C (p.Asp86=) c.9T>C (p.Asp3=) c.*348T>C (n.*348T>C) c.288T>C (p.Asp96=) c.339T>C (p.Asp113=) c.*321T>C (n.*321T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99583382T>G | CA357501969 | MTTP | c.258T>G (p.Asp86Glu) c.9T>G (p.Asp3Glu) c.*348T>G (n.*348T>G) c.288T>G (p.Asp96Glu) c.339T>G (p.Asp113Glu) c.*321T>G (n.*321T>G) | |
| 4 | g.99583382T= | CA1480066532 | MTTP | c.258T= (p.Asp86=) c.9T= (p.Asp3=) c.*348T= (n.*348T=) c.288T= (p.Asp96=) c.339T= (p.Asp113=) c.*321T= (n.*321T=) | |
| 4 | g.99583383G>A | CA357501972 | MTTP | c.259G>A (p.Val87Ile) c.10G>A (p.Val4Ile) c.*349G>A (n.*349G>A) c.289G>A (p.Val97Ile) c.340G>A (p.Val114Ile) c.*322G>A (n.*322G>A) | gnomAD v4 |
| 4 | g.99583383G>C | CA357501974 | MTTP | c.259G>C (p.Val87Leu) c.10G>C (p.Val4Leu) c.*349G>C (n.*349G>C) c.289G>C (p.Val97Leu) c.340G>C (p.Val114Leu) c.*322G>C (n.*322G>C) | |
| 4 | g.99583383G>T | CA357501976 | MTTP | c.259G>T (p.Val87Leu) c.10G>T (p.Val4Leu) c.*349G>T (n.*349G>T) c.289G>T (p.Val97Leu) c.340G>T (p.Val114Leu) c.*322G>T (n.*322G>T) | |
| 4 | g.99583384T>A | CA357501978 | MTTP | c.260T>A (p.Val87Glu) c.11T>A (p.Val4Glu) c.*350T>A (n.*350T>A) c.290T>A (p.Val97Glu) c.341T>A (p.Val114Glu) c.*323T>A (n.*323T>A) | |
| 4 | g.99583384T>C | CA357501980 | MTTP | c.260T>C (p.Val87Ala) c.11T>C (p.Val4Ala) c.*350T>C (n.*350T>C) c.290T>C (p.Val97Ala) c.341T>C (p.Val114Ala) c.*323T>C (n.*323T>C) | |
| 4 | g.99583384T>G | CA357501982 | MTTP | c.260T>G (p.Val87Gly) c.11T>G (p.Val4Gly) c.*350T>G (n.*350T>G) c.290T>G (p.Val97Gly) c.341T>G (p.Val114Gly) c.*323T>G (n.*323T>G) | gnomAD v4 |
| 4 | g.99583384_99583385delinsTA | CA1480066535 | MTTP | c.260_261delinsTA (p.Val87=) c.11_12delinsTA (p.Val4=) c.*350_*351delinsTA (n.*350_*351delinsTA) c.290_291delinsTA (p.Val97=) c.341_342delinsTA (p.Val114=) c.*323_*324delinsTA (n.*323_*324delinsTA) | |
| 4 | g.99583385A>C | CA440328586 | MTTP | c.261A>C (p.Val87=) c.12A>C (p.Val4=) c.*351A>C (n.*351A>C) c.291A>C (p.Val97=) c.342A>C (p.Val114=) c.*324A>C (n.*324A>C) | |
| 4 | g.99583385A>G | CA440328587 | MTTP | c.261A>G (p.Val87=) c.12A>G (p.Val4=) c.*351A>G (n.*351A>G) c.291A>G (p.Val97=) c.342A>G (p.Val114=) c.*324A>G (n.*324A>G) | |
| 4 | g.99583385A>T | CA440328588 | MTTP | c.261A>T (p.Val87=) c.12A>T (p.Val4=) c.*351A>T (n.*351A>T) c.291A>T (p.Val97=) c.342A>T (p.Val114=) c.*324A>T (n.*324A>T) | |
| 4 | g.99583387del | CA553568445 | MTTP | c.263del (p.Asn88MetfsTer5) c.14del (p.Asn5MetfsTer5) c.*353del (n.*353del) c.293del (p.Asn98MetfsTer5) c.344del (p.Asn115MetfsTer5) c.*326del (n.*326del) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.99583386A>C | CA357501984 | MTTP | c.262A>C (p.Asn88His) c.13A>C (p.Asn5His) c.*352A>C (n.*352A>C) c.292A>C (p.Asn98His) c.343A>C (p.Asn115His) c.*325A>C (n.*325A>C) | |
| 4 | g.99583386A>G | CA357501986 | MTTP | c.262A>G (p.Asn88Asp) c.13A>G (p.Asn5Asp) c.*352A>G (n.*352A>G) c.292A>G (p.Asn98Asp) c.343A>G (p.Asn115Asp) c.*325A>G (n.*325A>G) | |
| 4 | g.99583386A>T | CA357501987 | MTTP | c.262A>T (p.Asn88Tyr) c.13A>T (p.Asn5Tyr) c.*352A>T (n.*352A>T) c.292A>T (p.Asn98Tyr) c.343A>T (p.Asn115Tyr) c.*325A>T (n.*325A>T) | |
| 4 | g.99583387A= | CA1480066538 | MTTP | c.263A= (p.Asn88=) c.14A= (p.Asn5=) c.*353A= (n.*353A=) c.293A= (p.Asn98=) c.344A= (p.Asn115=) c.*326A= (n.*326A=) | |
| 4 | g.99583387A>C | CA357501989 | MTTP | c.263A>C (p.Asn88Thr) c.14A>C (p.Asn5Thr) c.*353A>C (n.*353A>C) c.293A>C (p.Asn98Thr) c.344A>C (p.Asn115Thr) c.*326A>C (n.*326A>C) | |
| 4 | g.99583387A>G | CA357501991 | MTTP | c.263A>G (p.Asn88Ser) c.14A>G (p.Asn5Ser) c.*353A>G (n.*353A>G) c.293A>G (p.Asn98Ser) c.344A>G (p.Asn115Ser) c.*326A>G (n.*326A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.99583387A>T | CA357501996 | MTTP | c.263A>T (p.Asn88Ile) c.14A>T (p.Asn5Ile) c.*353A>T (n.*353A>T) c.293A>T (p.Asn98Ile) c.344A>T (p.Asn115Ile) c.*326A>T (n.*326A>T) | |
| 4 | g.99583388T>A | CA357502000 | MTTP | c.264T>A (p.Asn88Lys) c.15T>A (p.Asn5Lys) c.*354T>A (n.*354T>A) c.294T>A (p.Asn98Lys) c.345T>A (p.Asn115Lys) c.*327T>A (n.*327T>A) | |
| 4 | g.99583388T>C | CA440328589 | MTTP | c.264T>C (p.Asn88=) c.15T>C (p.Asn5=) c.*354T>C (n.*354T>C) c.294T>C (p.Asn98=) c.345T>C (p.Asn115=) c.*327T>C (n.*327T>C) | COSMIC |
| 4 | g.99583388T>G | CA357501998 | MTTP | c.264T>G (p.Asn88Lys) c.15T>G (p.Asn5Lys) c.*354T>G (n.*354T>G) c.294T>G (p.Asn98Lys) c.345T>G (p.Asn115Lys) c.*327T>G (n.*327T>G) | |
| 4 | g.99583389G>A | CA3021794 | MTTP | c.265G>A (p.Val89Ile) c.16G>A (p.Val6Ile) c.*355G>A (n.*355G>A) c.295G>A (p.Val99Ile) c.346G>A (p.Val116Ile) c.*328G>A (n.*328G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99583389G>C | CA357502004 | MTTP | c.265G>C (p.Val89Leu) c.16G>C (p.Val6Leu) c.*355G>C (n.*355G>C) c.295G>C (p.Val99Leu) c.346G>C (p.Val116Leu) c.*328G>C (n.*328G>C) | |
| 4 | g.99583389G= | CA1480066540 | MTTP | c.265G= (p.Val89=) c.16G= (p.Val6=) c.*355G= (n.*355G=) c.295G= (p.Val99=) c.346G= (p.Val116=) c.*328G= (n.*328G=) | |
| 4 | g.99583389G>T | CA357502006 | MTTP | c.265G>T (p.Val89Phe) c.16G>T (p.Val6Phe) c.*355G>T (n.*355G>T) c.295G>T (p.Val99Phe) c.346G>T (p.Val116Phe) c.*328G>T (n.*328G>T) | |
| 4 | g.99583390T>A | CA357502008 | MTTP | c.266T>A (p.Val89Asp) c.17T>A (p.Val6Asp) c.*356T>A (n.*356T>A) c.296T>A (p.Val99Asp) c.347T>A (p.Val116Asp) c.*329T>A (n.*329T>A) | |
| 4 | g.99583390T>C | CA102617438 | MTTP | c.266T>C (p.Val89Ala) c.17T>C (p.Val6Ala) c.*356T>C (n.*356T>C) c.296T>C (p.Val99Ala) c.347T>C (p.Val116Ala) c.*329T>C (n.*329T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.99583390T>G | CA357502011 | MTTP | c.266T>G (p.Val89Gly) c.17T>G (p.Val6Gly) c.*356T>G (n.*356T>G) c.296T>G (p.Val99Gly) c.347T>G (p.Val116Gly) c.*329T>G (n.*329T>G) | |
| 4 | g.99583390T= | CA1480066543 | MTTP | c.266T= (p.Val89=) c.17T= (p.Val6=) c.*356T= (n.*356T=) c.296T= (p.Val99=) c.347T= (p.Val116=) c.*329T= (n.*329T=) | |
| 4 | g.99583391T>A | CA440328590 | MTTP | c.267T>A (p.Val89=) c.18T>A (p.Val6=) c.*357T>A (n.*357T>A) c.297T>A (p.Val99=) c.348T>A (p.Val116=) c.*330T>A (n.*330T>A) | |
| 4 | g.99583391T>C | CA440328591 | MTTP | c.267T>C (p.Val89=) c.18T>C (p.Val6=) c.*357T>C (n.*357T>C) c.297T>C (p.Val99=) c.348T>C (p.Val116=) c.*330T>C (n.*330T>C) | ClinVar dbSNP gnomAD v4 |
| 4 | g.99583391T>G | CA440328592 | MTTP | c.267T>G (p.Val89=) c.18T>G (p.Val6=) c.*357T>G (n.*357T>G) c.297T>G (p.Val99=) c.348T>G (p.Val116=) c.*330T>G (n.*330T>G) | |
| 4 | g.99583391T= | CA1480066546 | MTTP | c.267T= (p.Val89=) c.18T= (p.Val6=) c.*357T= (n.*357T=) c.297T= (p.Val99=) c.348T= (p.Val116=) c.*330T= (n.*330T=) | |
| 4 | g.99583392G>A | CA357502018 | MTTP | c.268G>A (p.Glu90Lys) c.19G>A (p.Glu7Lys) c.*358G>A (n.*358G>A) c.298G>A (p.Glu100Lys) c.349G>A (p.Glu117Lys) c.*331G>A (n.*331G>A) | |
| 4 | g.99583392G>C | CA357502014 | MTTP | c.268G>C (p.Glu90Gln) c.19G>C (p.Glu7Gln) c.*358G>C (n.*358G>C) c.298G>C (p.Glu100Gln) c.349G>C (p.Glu117Gln) c.*331G>C (n.*331G>C) | |
| 4 | g.99583392G>T | CA357502012 | MTTP | c.268G>T (p.Glu90Ter) c.19G>T (p.Glu7Ter) c.*358G>T (n.*358G>T) c.298G>T (p.Glu100Ter) c.349G>T (p.Glu117Ter) c.*331G>T (n.*331G>T) | |
| 4 | g.99583393A>C | CA357502019 | MTTP | c.269A>C (p.Glu90Ala) c.20A>C (p.Glu7Ala) c.*359A>C (n.*359A>C) c.299A>C (p.Glu100Ala) c.350A>C (p.Glu117Ala) c.*332A>C (n.*332A>C) | |
| 4 | g.99583393A>G | CA357502021 | MTTP | c.269A>G (p.Glu90Gly) c.20A>G (p.Glu7Gly) c.*359A>G (n.*359A>G) c.299A>G (p.Glu100Gly) c.350A>G (p.Glu117Gly) c.*332A>G (n.*332A>G) | |
| 4 | g.99583393A>T | CA357502022 | MTTP | c.269A>T (p.Glu90Val) c.20A>T (p.Glu7Val) c.*359A>T (n.*359A>T) c.299A>T (p.Glu100Val) c.350A>T (p.Glu117Val) c.*332A>T (n.*332A>T) | |
| 4 | g.99583394A= | CA1480066548 | MTTP | c.270A= (p.Glu90=) c.21A= (p.Glu7=) c.*360A= (n.*360A=) c.300A= (p.Glu100=) c.351A= (p.Glu117=) c.*333A= (n.*333A=) | |
| 4 | g.99583394A>C | CA357502023 | MTTP | c.270A>C (p.Glu90Asp) c.21A>C (p.Glu7Asp) c.*360A>C (n.*360A>C) c.300A>C (p.Glu100Asp) c.351A>C (p.Glu117Asp) c.*333A>C (n.*333A>C) | |
| 4 | g.99583394A>G | CA3021795 | MTTP | c.270A>G (p.Glu90=) c.21A>G (p.Glu7=) c.*360A>G (n.*360A>G) c.300A>G (p.Glu100=) c.351A>G (p.Glu117=) c.*333A>G (n.*333A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.99583394A>T | CA357502025 | MTTP | c.270A>T (p.Glu90Asp) c.21A>T (p.Glu7Asp) c.*360A>T (n.*360A>T) c.300A>T (p.Glu100Asp) c.351A>T (p.Glu117Asp) c.*333A>T (n.*333A>T) | |
| 4 | g.99583395A>C | CA357502027 | MTTP | c.271A>C (p.Asn91His) c.22A>C (p.Asn8His) c.*361A>C (n.*361A>C) c.301A>C (p.Asn101His) c.352A>C (p.Asn118His) c.*334A>C (n.*334A>C) | gnomAD v4 |
| 4 | g.99583395A>G | CA357502031 | MTTP | c.271A>G (p.Asn91Asp) c.22A>G (p.Asn8Asp) c.*361A>G (n.*361A>G) c.301A>G (p.Asn101Asp) c.352A>G (p.Asn118Asp) c.*334A>G (n.*334A>G) | |
| 4 | g.99583395A>T | CA357502029 | MTTP | c.271A>T (p.Asn91Tyr) c.22A>T (p.Asn8Tyr) c.*361A>T (n.*361A>T) c.301A>T (p.Asn101Tyr) c.352A>T (p.Asn118Tyr) c.*334A>T (n.*334A>T) | |
| 4 | g.99583396A>C | CA357502033 | MTTP | c.272A>C (p.Asn91Thr) c.23A>C (p.Asn8Thr) c.*362A>C (n.*362A>C) c.302A>C (p.Asn101Thr) c.353A>C (p.Asn118Thr) c.*335A>C (n.*335A>C) | |
| 4 | g.99583396A>G | CA357502035 | MTTP | c.272A>G (p.Asn91Ser) c.23A>G (p.Asn8Ser) c.*362A>G (n.*362A>G) c.302A>G (p.Asn101Ser) c.353A>G (p.Asn118Ser) c.*335A>G (n.*335A>G) | |
| 4 | g.99583396A>T | CA357502037 | MTTP | c.272A>T (p.Asn91Ile) c.23A>T (p.Asn8Ile) c.*362A>T (n.*362A>T) c.302A>T (p.Asn101Ile) c.353A>T (p.Asn118Ile) c.*335A>T (n.*335A>T) | gnomAD v4 |
| 4 | g.99583397T>A | CA357502038 | MTTP | c.273T>A (p.Asn91Lys) c.24T>A (p.Asn8Lys) c.*363T>A (n.*363T>A) c.303T>A (p.Asn101Lys) c.354T>A (p.Asn118Lys) c.*336T>A (n.*336T>A) | |
| 4 | g.99583397T>C | CA440328593 | MTTP | c.273T>C (p.Asn91=) c.24T>C (p.Asn8=) c.*363T>C (n.*363T>C) c.303T>C (p.Asn101=) c.354T>C (p.Asn118=) c.*336T>C (n.*336T>C) | |
| 4 | g.99583397T>G | CA357502040 | MTTP | c.273T>G (p.Asn91Lys) c.24T>G (p.Asn8Lys) c.*363T>G (n.*363T>G) c.303T>G (p.Asn101Lys) c.354T>G (p.Asn118Lys) c.*336T>G (n.*336T>G) | |
| 4 | g.99583399_99583400del | CA2580616120 | MTTP | c.275_276del (p.Val92GlufsTer17) c.26_27del (p.Val9GlufsTer?) c.26_27del (p.Val9GlufsTer17) c.*365_*366del (n.*365_*366del) c.305_306del (p.Val102GlufsTer17) c.356_357del (p.Val119GlufsTer17) c.*338_*339del (n.*338_*339del) | ClinVar |
| 4 | g.99583398G>A | CA357502043 | MTTP | c.274G>A (p.Val92Met) c.25G>A (p.Val9Met) c.*364G>A (n.*364G>A) c.304G>A (p.Val102Met) c.355G>A (p.Val119Met) c.*337G>A (n.*337G>A) | dbSNP |
| 4 | g.99583398G>C | CA357502042 | MTTP | c.274G>C (p.Val92Leu) c.25G>C (p.Val9Leu) c.*364G>C (n.*364G>C) c.304G>C (p.Val102Leu) c.355G>C (p.Val119Leu) c.*337G>C (n.*337G>C) | |
| 4 | g.99583398G= | CA1480066553 | MTTP | c.274G= (p.Val92=) c.25G= (p.Val9=) c.*364G= (n.*364G=) c.304G= (p.Val102=) c.355G= (p.Val119=) c.*337G= (n.*337G=) | |
| 4 | g.99583398G>T | CA357502041 | MTTP | c.274G>T (p.Val92Leu) c.25G>T (p.Val9Leu) c.*364G>T (n.*364G>T) c.304G>T (p.Val102Leu) c.355G>T (p.Val119Leu) c.*337G>T (n.*337G>T) | |
| 4 | g.99583399T>A | CA357502044 | MTTP | c.275T>A (p.Val92Glu) c.26T>A (p.Val9Glu) c.*365T>A (n.*365T>A) c.305T>A (p.Val102Glu) c.356T>A (p.Val119Glu) c.*338T>A (n.*338T>A) | |
| 4 | g.99583399T>C | CA357502045 | MTTP | c.275T>C (p.Val92Ala) c.26T>C (p.Val9Ala) c.*365T>C (n.*365T>C) c.305T>C (p.Val102Ala) c.356T>C (p.Val119Ala) c.*338T>C (n.*338T>C) | |
| 4 | g.99583399T>G | CA357502046 | MTTP | c.275T>G (p.Val92Gly) c.26T>G (p.Val9Gly) c.*365T>G (n.*365T>G) c.305T>G (p.Val102Gly) c.356T>G (p.Val119Gly) c.*338T>G (n.*338T>G) | |
| 4 | g.99583400G>A | CA440328594 | MTTP | c.276G>A (p.Val92=) c.27G>A (p.Val9=) c.*366G>A (n.*366G>A) c.306G>A (p.Val102=) c.357G>A (p.Val119=) c.*339G>A (n.*339G>A) | |
| 4 | g.99583400G>C | CA440328595 | MTTP | c.276G>C (p.Val92=) c.27G>C (p.Val9=) c.*366G>C (n.*366G>C) c.306G>C (p.Val102=) c.357G>C (p.Val119=) c.*339G>C (n.*339G>C) | |
| 4 | g.99583400G>T | CA440328596 | MTTP | c.276G>T (p.Val92=) c.27G>T (p.Val9=) c.*366G>T (n.*366G>T) c.306G>T (p.Val102=) c.357G>T (p.Val119=) c.*339G>T (n.*339G>T) | |
| 4 | g.99583402_99583412del | CA2671532895 | MTTP | c.278_288del (p.Asn93ArgfsTer13) c.29_39del (p.Asn10ArgfsTer?) c.29_39del (p.Asn10ArgfsTer13) c.*368_*378del (n.*368_*378del) c.308_318del (p.Asn103ArgfsTer13) c.359_369del (p.Asn120ArgfsTer13) c.*341_*351del (n.*341_*351del) | gnomAD v4 |
| 4 | g.99583401A>C | CA357502047 | MTTP | c.277A>C (p.Asn93His) c.28A>C (p.Asn10His) c.*367A>C (n.*367A>C) c.307A>C (p.Asn103His) c.358A>C (p.Asn120His) c.*340A>C (n.*340A>C) | |
| 4 | g.99583401A>G | CA357502048 | MTTP | c.277A>G (p.Asn93Asp) c.28A>G (p.Asn10Asp) c.*367A>G (n.*367A>G) c.307A>G (p.Asn103Asp) c.358A>G (p.Asn120Asp) c.*340A>G (n.*340A>G) | |
| 4 | g.99583401A>T | CA357502050 | MTTP | c.277A>T (p.Asn93Tyr) c.28A>T (p.Asn10Tyr) c.*367A>T (n.*367A>T) c.307A>T (p.Asn103Tyr) c.358A>T (p.Asn120Tyr) c.*340A>T (n.*340A>T) | |
| 4 | g.99583402A>C | CA357502052 | MTTP | c.278A>C (p.Asn93Thr) c.29A>C (p.Asn10Thr) c.*368A>C (n.*368A>C) c.308A>C (p.Asn103Thr) c.359A>C (p.Asn120Thr) c.*341A>C (n.*341A>C) | |
| 4 | g.99583402A>G | CA357502055 | MTTP | c.278A>G (p.Asn93Ser) c.29A>G (p.Asn10Ser) c.*368A>G (n.*368A>G) c.308A>G (p.Asn103Ser) c.359A>G (p.Asn120Ser) c.*341A>G (n.*341A>G) | |
| 4 | g.99583402A>T | CA357502053 | MTTP | c.278A>T (p.Asn93Ile) c.29A>T (p.Asn10Ile) c.*368A>T (n.*368A>T) c.308A>T (p.Asn103Ile) c.359A>T (p.Asn120Ile) c.*341A>T (n.*341A>T) | |
| 4 | g.99583403T>A | CA357502056 | MTTP | c.279T>A (p.Asn93Lys) c.30T>A (p.Asn10Lys) c.*369T>A (n.*369T>A) c.309T>A (p.Asn103Lys) c.360T>A (p.Asn120Lys) c.*342T>A (n.*342T>A) | dbSNP |
| 4 | g.99583403T>C | CA3021796 | MTTP | c.279T>C (p.Asn93=) c.30T>C (p.Asn10=) c.*369T>C (n.*369T>C) c.309T>C (p.Asn103=) c.360T>C (p.Asn120=) c.*342T>C (n.*342T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.99583403T>G | CA357502058 | MTTP | c.279T>G (p.Asn93Lys) c.30T>G (p.Asn10Lys) c.*369T>G (n.*369T>G) c.309T>G (p.Asn103Lys) c.360T>G (p.Asn120Lys) c.*342T>G (n.*342T>G) | |
| 4 | g.99583403T= | CA1480066555 | MTTP | c.279T= (p.Asn93=) c.30T= (p.Asn10=) c.*369T= (n.*369T=) c.309T= (p.Asn103=) c.360T= (p.Asn120=) c.*342T= (n.*342T=) | |
| 4 | g.99583404C>A | CA357502060 | MTTP | c.280C>A (p.Gln94Lys) c.31C>A (p.Gln11Lys) c.*370C>A (n.*370C>A) c.310C>A (p.Gln104Lys) c.361C>A (p.Gln121Lys) c.*343C>A (n.*343C>A) | dbSNP gnomAD v2 |
| 4 | g.99583404C= | CA1480066557 | MTTP | c.280C= (p.Gln94=) c.31C= (p.Gln11=) c.*370C= (n.*370C=) c.310C= (p.Gln104=) c.361C= (p.Gln121=) c.*343C= (n.*343C=) | |
| 4 | g.99583404C>G | CA357502061 | MTTP | c.280C>G (p.Gln94Glu) c.31C>G (p.Gln11Glu) c.*370C>G (n.*370C>G) c.310C>G (p.Gln104Glu) c.361C>G (p.Gln121Glu) c.*343C>G (n.*343C>G) | |
| 4 | g.99583404C>T | CA357502062 | MTTP | c.280C>T (p.Gln94Ter) c.31C>T (p.Gln11Ter) c.*370C>T (n.*370C>T) c.310C>T (p.Gln104Ter) c.361C>T (p.Gln121Ter) c.*343C>T (n.*343C>T) | |
| 4 | g.99583405A= | CA1480066559 | MTTP | c.281A= (p.Gln94=) c.32A= (p.Gln11=) c.*371A= (n.*371A=) c.311A= (p.Gln104=) c.362A= (p.Gln121=) c.*344A= (n.*344A=) | |
| 4 | g.99583405A>C | CA357502063 | MTTP | c.281A>C (p.Gln94Pro) c.32A>C (p.Gln11Pro) c.*371A>C (n.*371A>C) c.311A>C (p.Gln104Pro) c.362A>C (p.Gln121Pro) c.*344A>C (n.*344A>C) | gnomAD v4 |
| 4 | g.99583405A>G | CA357502064 | MTTP | c.281A>G (p.Gln94Arg) c.32A>G (p.Gln11Arg) c.*371A>G (n.*371A>G) c.311A>G (p.Gln104Arg) c.362A>G (p.Gln121Arg) c.*344A>G (n.*344A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.99583405A>T | CA357502065 | MTTP | c.281A>T (p.Gln94Leu) c.32A>T (p.Gln11Leu) c.*371A>T (n.*371A>T) c.311A>T (p.Gln104Leu) c.362A>T (p.Gln121Leu) c.*344A>T (n.*344A>T) | |
| 4 | g.99583406G>A | CA440328597 | MTTP | c.282G>A (p.Gln94=) c.33G>A (p.Gln11=) c.*372G>A (n.*372G>A) c.312G>A (p.Gln104=) c.363G>A (p.Gln121=) c.*345G>A (n.*345G>A) | gnomAD v4 |
| 4 | g.99583406G>C | CA357502067 | MTTP | c.282G>C (p.Gln94His) c.33G>C (p.Gln11His) c.*372G>C (n.*372G>C) c.312G>C (p.Gln104His) c.363G>C (p.Gln121His) c.*345G>C (n.*345G>C) | |
| 4 | g.99583406G>T | CA357502068 | MTTP | c.282G>T (p.Gln94His) c.33G>T (p.Gln11His) c.*372G>T (n.*372G>T) c.312G>T (p.Gln104His) c.363G>T (p.Gln121His) c.*345G>T (n.*345G>T) | |
| 4 | g.99583407C>A | CA357502069 | MTTP | c.283C>A (p.Gln95Lys) c.34C>A (p.Gln12Lys) c.*373C>A (n.*373C>A) c.313C>A (p.Gln105Lys) c.364C>A (p.Gln122Lys) c.*346C>A (n.*346C>A) | |
| 4 | g.99583407C>G | CA357502071 | MTTP | c.283C>G (p.Gln95Glu) c.34C>G (p.Gln12Glu) c.*373C>G (n.*373C>G) c.313C>G (p.Gln105Glu) c.364C>G (p.Gln122Glu) c.*346C>G (n.*346C>G) | |
| 4 | g.99583407C>T | CA357502070 | MTTP | c.283C>T (p.Gln95Ter) c.34C>T (p.Gln12Ter) c.*373C>T (n.*373C>T) c.313C>T (p.Gln105Ter) c.364C>T (p.Gln122Ter) c.*346C>T (n.*346C>T) | ClinVar |
| 4 | g.99583408A>C | CA357502073 | MTTP | c.284A>C (p.Gln95Pro) c.35A>C (p.Gln12Pro) c.*374A>C (n.*374A>C) c.314A>C (p.Gln105Pro) c.365A>C (p.Gln122Pro) c.*347A>C (n.*347A>C) | |
| 4 | g.99583408A>G | CA357502076 | MTTP | c.284A>G (p.Gln95Arg) c.35A>G (p.Gln12Arg) c.*374A>G (n.*374A>G) c.314A>G (p.Gln105Arg) c.365A>G (p.Gln122Arg) c.*347A>G (n.*347A>G) | |
| 4 | g.99583408A>T | CA357502075 | MTTP | c.284A>T (p.Gln95Leu) c.35A>T (p.Gln12Leu) c.*374A>T (n.*374A>T) c.314A>T (p.Gln105Leu) c.365A>T (p.Gln122Leu) c.*347A>T (n.*347A>T) | |
| 4 | g.99583412_99583413del | CA2671532896 | MTTP | c.288_289del (p.Gly97ArgfsTer12) c.39_40del (p.Gly14ArgfsTer?) c.39_40del (p.Gly14ArgfsTer12) c.*378_*379del (n.*378_*379del) c.318_319del (p.Gly107ArgfsTer12) c.369_370del (p.Gly124ArgfsTer12) c.*351_*352del (n.*351_*352del) | gnomAD v4 |
| 4 | g.99583409G>A | CA440328598 | MTTP | c.285G>A (p.Gln95=) c.36G>A (p.Gln12=) c.*375G>A (n.*375G>A) c.315G>A (p.Gln105=) c.366G>A (p.Gln122=) c.*348G>A (n.*348G>A) | gnomAD v4 |
| 4 | g.99583409G>C | CA202705 | MTTP | c.285G>C (p.Gln95His) c.36G>C (p.Gln12His) c.*375G>C (n.*375G>C) c.315G>C (p.Gln105His) c.366G>C (p.Gln122His) c.*348G>C (n.*348G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99583409G= | CA1480066677 | MTTP | c.285G= (p.Gln95=) c.36G= (p.Gln12=) c.*375G= (n.*375G=) c.315G= (p.Gln105=) c.366G= (p.Gln122=) c.*348G= (n.*348G=) | |
| 4 | g.99583409G>T | CA357502078 | MTTP | c.285G>T (p.Gln95His) c.36G>T (p.Gln12His) c.*375G>T (n.*375G>T) c.315G>T (p.Gln105His) c.366G>T (p.Gln122His) c.*348G>T (n.*348G>T) | |
| 4 | g.99583410A>C | CA440328599 | MTTP | c.286A>C (p.Arg96=) c.37A>C (p.Arg13=) c.*376A>C (n.*376A>C) c.316A>C (p.Arg106=) c.367A>C (p.Arg123=) c.*349A>C (n.*349A>C) | |
| 4 | g.99583410A>G | CA357502080 | MTTP | c.286A>G (p.Arg96Gly) c.37A>G (p.Arg13Gly) c.*376A>G (n.*376A>G) c.316A>G (p.Arg106Gly) c.367A>G (p.Arg123Gly) c.*349A>G (n.*349A>G) | |
| 4 | g.99583410A>T | CA357502082 | MTTP | c.286A>T (p.Arg96Ter) c.37A>T (p.Arg13Ter) c.*376A>T (n.*376A>T) c.316A>T (p.Arg106Ter) c.367A>T (p.Arg123Ter) c.*349A>T (n.*349A>T) | |
| 4 | g.99583411G>A | CA357502084 | MTTP | c.287G>A (p.Arg96Lys) c.38G>A (p.Arg13Lys) c.*377G>A (n.*377G>A) c.317G>A (p.Arg106Lys) c.368G>A (p.Arg123Lys) c.*350G>A (n.*350G>A) | dbSNP |
| 4 | g.99583411G>C | CA357502086 | MTTP | c.287G>C (p.Arg96Thr) c.38G>C (p.Arg13Thr) c.*377G>C (n.*377G>C) c.317G>C (p.Arg106Thr) c.368G>C (p.Arg123Thr) c.*350G>C (n.*350G>C) | |
| 4 | g.99583411G= | CA1480066682 | MTTP | c.287G= (p.Arg96=) c.38G= (p.Arg13=) c.*377G= (n.*377G=) c.317G= (p.Arg106=) c.368G= (p.Arg123=) c.*350G= (n.*350G=) | |
| 4 | g.99583411G>T | CA357502087 | MTTP | c.287G>T (p.Arg96Ile) c.38G>T (p.Arg13Ile) c.*377G>T (n.*377G>T) c.317G>T (p.Arg106Ile) c.368G>T (p.Arg123Ile) c.*350G>T (n.*350G>T) | |
| 4 | g.99583412A>C | CA357502088 | MTTP | c.288A>C (p.Arg96Ser) c.39A>C (p.Arg13Ser) c.*378A>C (n.*378A>C) c.318A>C (p.Arg106Ser) c.369A>C (p.Arg123Ser) c.*351A>C (n.*351A>C) | |
| 4 | g.99583412A>G | CA440328600 | MTTP | c.288A>G (p.Arg96=) c.39A>G (p.Arg13=) c.*378A>G (n.*378A>G) c.318A>G (p.Arg106=) c.369A>G (p.Arg123=) c.*351A>G (n.*351A>G) | ClinVar |
| 4 | g.99583412A>T | CA357502091 | MTTP | c.288A>T (p.Arg96Ser) c.39A>T (p.Arg13Ser) c.*378A>T (n.*378A>T) c.318A>T (p.Arg106Ser) c.369A>T (p.Arg123Ser) c.*351A>T (n.*351A>T) | |
| 4 | g.99583413G>A | CA357502093 | MTTP | c.289G>A (p.Gly97Arg) c.40G>A (p.Gly14Arg) c.*379G>A (n.*379G>A) c.319G>A (p.Gly107Arg) c.370G>A (p.Gly124Arg) c.*352G>A (n.*352G>A) | gnomAD v4 |
| 4 | g.99583413G>C | CA357502095 | MTTP | c.289G>C (p.Gly97Arg) c.40G>C (p.Gly14Arg) c.*379G>C (n.*379G>C) c.319G>C (p.Gly107Arg) c.370G>C (p.Gly124Arg) c.*352G>C (n.*352G>C) | |
| 4 | g.99583413G>T | CA357502097 | MTTP | c.289G>T (p.Gly97Ter) c.40G>T (p.Gly14Ter) c.*379G>T (n.*379G>T) c.319G>T (p.Gly107Ter) c.370G>T (p.Gly124Ter) c.*352G>T (n.*352G>T) | |
| 4 | g.99583414del | CA2499217351 | MTTP | c.290del (p.Gly97GlufsTer14) c.41del (p.Gly14GlufsTer?) c.41del (p.Gly14GlufsTer14) c.*380del (n.*380del) c.320del (p.Gly107GlufsTer14) c.371del (p.Gly124GlufsTer14) c.*353del (n.*353del) | ClinVar dbSNP |
| 4 | g.99583414G>A | CA3021797 | MTTP | c.290G>A (p.Gly97Glu) c.41G>A (p.Gly14Glu) c.*380G>A (n.*380G>A) c.320G>A (p.Gly107Glu) c.371G>A (p.Gly124Glu) c.*353G>A (n.*353G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99583414G>C | CA357502099 | MTTP | c.290G>C (p.Gly97Ala) c.41G>C (p.Gly14Ala) c.*380G>C (n.*380G>C) c.320G>C (p.Gly107Ala) c.371G>C (p.Gly124Ala) c.*353G>C (n.*353G>C) | |
| 4 | g.99583414G= | CA1480066689 | MTTP | c.290G= (p.Gly97=) c.41G= (p.Gly14=) c.*380G= (n.*380G=) c.320G= (p.Gly107=) c.371G= (p.Gly124=) c.*353G= (n.*353G=) | |
| 4 | g.99583414G>T | CA357502100 | MTTP | c.290G>T (p.Gly97Val) c.41G>T (p.Gly14Val) c.*380G>T (n.*380G>T) c.320G>T (p.Gly107Val) c.371G>T (p.Gly124Val) c.*353G>T (n.*353G>T) | |
| 4 | g.99583415A>C | CA440328601 | MTTP | c.291A>C (p.Gly97=) c.42A>C (p.Gly14=) c.*381A>C (n.*381A>C) c.321A>C (p.Gly107=) c.372A>C (p.Gly124=) c.*354A>C (n.*354A>C) | ClinVar dbSNP gnomAD v4 |
| 4 | g.99583415A>G | CA440328602 | MTTP | c.291A>G (p.Gly97=) c.42A>G (p.Gly14=) c.*381A>G (n.*381A>G) c.321A>G (p.Gly107=) c.372A>G (p.Gly124=) c.*354A>G (n.*354A>G) | |
| 4 | g.99583415A>T | CA440328603 | MTTP | c.291A>T (p.Gly97=) c.42A>T (p.Gly14=) c.*381A>T (n.*381A>T) c.321A>T (p.Gly107=) c.372A>T (p.Gly124=) c.*354A>T (n.*354A>T) | |
| 4 | g.99583416G>A | CA357502104 | MTTP | c.292G>A (p.Glu98Lys) c.43G>A (p.Glu15Lys) c.*382G>A (n.*382G>A) c.322G>A (p.Glu108Lys) c.373G>A (p.Glu125Lys) c.*355G>A (n.*355G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.99583416G>C | CA3021798 | MTTP | c.292G>C (p.Glu98Gln) c.43G>C (p.Glu15Gln) c.*382G>C (n.*382G>C) c.322G>C (p.Glu108Gln) c.373G>C (p.Glu125Gln) c.*355G>C (n.*355G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.99583416G= | CA1480066693 | MTTP | c.292G= (p.Glu98=) c.43G= (p.Glu15=) c.*382G= (n.*382G=) c.322G= (p.Glu108=) c.373G= (p.Glu125=) c.*355G= (n.*355G=) | |
| 4 | g.99583416G>T | CA357502107 | MTTP | c.292G>T (p.Glu98Ter) c.43G>T (p.Glu15Ter) c.*382G>T (n.*382G>T) c.322G>T (p.Glu108Ter) c.373G>T (p.Glu125Ter) c.*355G>T (n.*355G>T) | |
| 4 | g.99583417A= | CA1480066696 | MTTP | c.293A= (p.Glu98=) c.44A= (p.Glu15=) c.*383A= (n.*383A=) c.323A= (p.Glu108=) c.374A= (p.Glu125=) c.*356A= (n.*356A=) | |
| 4 | g.99583417A>C | CA357502110 | MTTP | c.293A>C (p.Glu98Ala) c.44A>C (p.Glu15Ala) c.*383A>C (n.*383A>C) c.323A>C (p.Glu108Ala) c.374A>C (p.Glu125Ala) c.*356A>C (n.*356A>C) | dbSNP |
| 4 | g.99583417A>G | CA357502112 | MTTP | c.293A>G (p.Glu98Gly) c.44A>G (p.Glu15Gly) c.*383A>G (n.*383A>G) c.323A>G (p.Glu108Gly) c.374A>G (p.Glu125Gly) c.*356A>G (n.*356A>G) | dbSNP gnomAD v4 |
| 4 | g.99583417A>T | CA357502114 | MTTP | c.293A>T (p.Glu98Val) c.44A>T (p.Glu15Val) c.*383A>T (n.*383A>T) c.323A>T (p.Glu108Val) c.374A>T (p.Glu125Val) c.*356A>T (n.*356A>T) | |
| 4 | g.99583418G>A | CA440328604 | MTTP | c.294G>A (p.Glu98=) c.45G>A (p.Glu15=) c.*384G>A (n.*384G>A) c.324G>A (p.Glu108=) c.375G>A (p.Glu125=) c.*357G>A (n.*357G>A) | dbSNP |
| 4 | g.99583418G>C | CA3021799 | MTTP | c.294G>C (p.Glu98Asp) c.45G>C (p.Glu15Asp) c.*384G>C (n.*384G>C) c.324G>C (p.Glu108Asp) c.375G>C (p.Glu125Asp) c.*357G>C (n.*357G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99583418G= | CA1480066702 | MTTP | c.294G= (p.Glu98=) c.45G= (p.Glu15=) c.*384G= (n.*384G=) c.324G= (p.Glu108=) c.375G= (p.Glu125=) c.*357G= (n.*357G=) | |
| 4 | g.99583418G>T | CA102617498 | MTTP | c.294G>T (p.Glu98Asp) c.45G>T (p.Glu15Asp) c.*384G>T (n.*384G>T) c.324G>T (p.Glu108Asp) c.375G>T (p.Glu125Asp) c.*357G>T (n.*357G>T) | dbSNP |
| 4 | g.99583419A>C | CA357502116 | MTTP | c.295A>C (p.Lys99Gln) c.46A>C (p.Lys16Gln) c.*385A>C (n.*385A>C) c.325A>C (p.Lys109Gln) c.376A>C (p.Lys126Gln) c.*358A>C (n.*358A>C) | |
| 4 | g.99583419A>G | CA357502118 | MTTP | c.295A>G (p.Lys99Glu) c.46A>G (p.Lys16Glu) c.*385A>G (n.*385A>G) c.325A>G (p.Lys109Glu) c.376A>G (p.Lys126Glu) c.*358A>G (n.*358A>G) | |
| 4 | g.99583419A>T | CA357502126 | MTTP | c.295A>T (p.Lys99Ter) c.46A>T (p.Lys16Ter) c.*385A>T (n.*385A>T) c.325A>T (p.Lys109Ter) c.376A>T (p.Lys126Ter) c.*358A>T (n.*358A>T) | |
| 4 | g.99583420A= | CA1480066703 | MTTP | c.296A= (p.Lys99=) c.47A= (p.Lys16=) c.*386A= (n.*386A=) c.326A= (p.Lys109=) c.377A= (p.Lys126=) c.*359A= (n.*359A=) | |
| 4 | g.99583420A>C | CA357502131 | MTTP | c.296A>C (p.Lys99Thr) c.47A>C (p.Lys16Thr) c.*386A>C (n.*386A>C) c.326A>C (p.Lys109Thr) c.377A>C (p.Lys126Thr) c.*359A>C (n.*359A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.99583420A>G | CA357502129 | MTTP | c.296A>G (p.Lys99Arg) c.47A>G (p.Lys16Arg) c.*386A>G (n.*386A>G) c.326A>G (p.Lys109Arg) c.377A>G (p.Lys126Arg) c.*359A>G (n.*359A>G) | |
| 4 | g.99583420A>T | CA357502128 | MTTP | c.296A>T (p.Lys99Met) c.47A>T (p.Lys16Met) c.*386A>T (n.*386A>T) c.326A>T (p.Lys109Met) c.377A>T (p.Lys126Met) c.*359A>T (n.*359A>T) | |
| 4 | g.99583421G>A | CA440328605 | MTTP | c.297G>A (p.Lys99=) c.48G>A (p.Lys16=) c.*387G>A (n.*387G>A) c.327G>A (p.Lys109=) c.378G>A (p.Lys126=) c.*360G>A (n.*360G>A) | ClinVar dbSNP |
| 4 | g.99583421G>C | CA357502132 | MTTP | c.297G>C (p.Lys99Asn) c.48G>C (p.Lys16Asn) c.*387G>C (n.*387G>C) c.327G>C (p.Lys109Asn) c.378G>C (p.Lys126Asn) c.*360G>C (n.*360G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.99583421G= | CA1480066708 | MTTP | c.297G= (p.Lys99=) c.48G= (p.Lys16=) c.*387G= (n.*387G=) c.327G= (p.Lys109=) c.378G= (p.Lys126=) c.*360G= (n.*360G=) | |
| 4 | g.99583421G>T | CA357502136 | MTTP | c.297G>T (p.Lys99Asn) c.48G>T (p.Lys16Asn) c.*387G>T (n.*387G>T) c.327G>T (p.Lys109Asn) c.378G>T (p.Lys126Asn) c.*360G>T (n.*360G>T) | COSMIC |
| 4 | g.99583422A>C | CA357502137 | MTTP | c.298A>C (p.Ser100Arg) c.49A>C c.49A>C (p.Ser17Arg) c.*388A>C (n.*388A>C) c.328A>C (p.Ser110Arg) c.379A>C (p.Ser127Arg) c.*361A>C (n.*361A>C) | |
| 4 | g.99583422A>G | CA357502138 | MTTP | c.298A>G (p.Ser100Gly) c.49A>G c.49A>G (p.Ser17Gly) c.*388A>G (n.*388A>G) c.328A>G (p.Ser110Gly) c.379A>G (p.Ser127Gly) c.*361A>G (n.*361A>G) | gnomAD v4 |
| 4 | g.99583422A>T | CA357502140 | MTTP | c.298A>T (p.Ser100Cys) c.49A>T c.49A>T (p.Ser17Cys) c.*388A>T (n.*388A>T) c.328A>T (p.Ser110Cys) c.379A>T (p.Ser127Cys) c.*361A>T (n.*361A>T) | |
| 4 | g.99583423G>A | CA357502142 | MTTP | c.299G>A (p.Ser100Asn) c.50G>A (p.Ser17Asn) c.329G>A (p.Ser110Asn) c.380G>A (p.Ser127Asn) c.*362G>A (n.*362G>A) | |
| 4 | g.99583423G>C | CA357502144 | MTTP | c.299G>C (p.Ser100Thr) c.50G>C (p.Ser17Thr) c.329G>C (p.Ser110Thr) c.380G>C (p.Ser127Thr) c.*362G>C (n.*362G>C) | |
| 4 | g.99583423G>T | CA357502146 | MTTP | c.299G>T (p.Ser100Ile) c.50G>T (p.Ser17Ile) c.329G>T (p.Ser110Ile) c.380G>T (p.Ser127Ile) c.*362G>T (n.*362G>T) |