Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.99622501_99622655del | CA2762808574 | MTTP | c.2514-176_2514-22del (n.2514-176_2514-22del) c.2265-176_2265-22del (n.2265-176_2265-22del) c.2595-176_2595-22del (n.2595-176_2595-22del) c.*961-176_*961-22del (n.*961-176_*961-22del) | |
4 | g.99622636A>G | CA2671535529 | MTTP | c.2514-41A>G (n.2514-41A>G) c.2265-41A>G (n.2265-41A>G) c.2595-41A>G (n.2595-41A>G) c.*961-41A>G (n.*961-41A>G) | gnomAD v4 |
4 | g.99622637C>T | CA2671535530 | MTTP | c.2514-40C>T (n.2514-40C>T) c.2265-40C>T (n.2265-40C>T) c.2595-40C>T (n.2595-40C>T) c.*961-40C>T (n.*961-40C>T) | gnomAD v4 |
4 | g.99622637_99622639delinsCTG | CA1480087907 | MTTP | c.2514-40_2514-38delinsCTG (n.2514-40_2514-38delinsCTG) c.2265-40_2265-38delinsCTG (n.2265-40_2265-38delinsCTG) c.2595-40_2595-38delinsCTG (n.2595-40_2595-38delinsCTG) c.*961-40_*961-38delinsCTG (n.*961-40_*961-38delinsCTG) | |
4 | g.99622638T>A | CA3022387 | MTTP | c.2514-39T>A (n.2514-39T>A) c.2265-39T>A (n.2265-39T>A) c.2595-39T>A (n.2595-39T>A) c.*961-39T>A (n.*961-39T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.99622638T>C | CA2578152534 | MTTP | c.2514-39T>C (n.2514-39T>C) c.2265-39T>C (n.2265-39T>C) c.2595-39T>C (n.2595-39T>C) c.*961-39T>C (n.*961-39T>C) | |
4 | g.99622638T>G | CA1480087909 | MTTP | c.2514-39T>G (n.2514-39T>G) c.2265-39T>G (n.2265-39T>G) c.2595-39T>G (n.2595-39T>G) c.*961-39T>G (n.*961-39T>G) | dbSNP |
4 | g.99622638T= | CA1480087908 | MTTP | c.2514-39T= (n.2514-39T=) c.2265-39T= (n.2265-39T=) c.2595-39T= (n.2595-39T=) c.*961-39T= (n.*961-39T=) | |
4 | g.99622638_99622639delinsTG | CA1480087910 | MTTP | c.2514-39_2514-38delinsTG (n.2514-39_2514-38delinsTG) c.2265-39_2265-38delinsTG (n.2265-39_2265-38delinsTG) c.2595-39_2595-38delinsTG (n.2595-39_2595-38delinsTG) c.*961-39_*961-38delinsTG (n.*961-39_*961-38delinsTG) | |
4 | g.99622645_99622646del | CA3022386 | MTTP | c.2514-32_2514-31del (n.2514-32_2514-31del) c.2265-32_2265-31del (n.2265-32_2265-31del) c.2595-32_2595-31del (n.2595-32_2595-31del) c.*961-32_*961-31del (n.*961-32_*961-31del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.99622639del | CA553568500 | MTTP | c.2514-38del (n.2514-38del) c.2265-38del (n.2265-38del) c.2595-38del (n.2595-38del) c.*961-38del (n.*961-38del) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99622640T>C | CA553568501 | MTTP | c.2514-37T>C (n.2514-37T>C) c.2265-37T>C (n.2265-37T>C) c.2595-37T>C (n.2595-37T>C) c.*961-37T>C (n.*961-37T>C) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99622640T= | CA1480087911 | MTTP | c.2514-37T= (n.2514-37T=) c.2265-37T= (n.2265-37T=) c.2595-37T= (n.2595-37T=) c.*961-37T= (n.*961-37T=) | |
4 | g.99622641G= | CA1480087912 | MTTP | c.2514-36G= (n.2514-36G=) c.2265-36G= (n.2265-36G=) c.2595-36G= (n.2595-36G=) c.*961-36G= (n.*961-36G=) | |
4 | g.99622641G>T | CA3022388 | MTTP | c.2514-36G>T (n.2514-36G>T) c.2265-36G>T (n.2265-36G>T) c.2595-36G>T (n.2595-36G>T) c.*961-36G>T (n.*961-36G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.99622642T>C | CA2671535531 | MTTP | c.2514-35T>C (n.2514-35T>C) c.2265-35T>C (n.2265-35T>C) c.2595-35T>C (n.2595-35T>C) c.*961-35T>C (n.*961-35T>C) | gnomAD v4 |
4 | g.99622643G>A | CA2671535532 | MTTP | c.2514-34G>A (n.2514-34G>A) c.2265-34G>A (n.2265-34G>A) c.2595-34G>A (n.2595-34G>A) c.*961-34G>A (n.*961-34G>A) | gnomAD v4 |
4 | g.99622645G>A | CA2671535533 | MTTP | c.2514-32G>A (n.2514-32G>A) c.2265-32G>A (n.2265-32G>A) c.2595-32G>A (n.2595-32G>A) c.*961-32G>A (n.*961-32G>A) | gnomAD v4 |
4 | g.99622645G= | CA1480087913 | MTTP | c.2514-32G= (n.2514-32G=) c.2265-32G= (n.2265-32G=) c.2595-32G= (n.2595-32G=) c.*961-32G= (n.*961-32G=) | |
4 | g.99622645G>T | CA3022389 | MTTP | c.2514-32G>T (n.2514-32G>T) c.2265-32G>T (n.2265-32G>T) c.2595-32G>T (n.2595-32G>T) c.*961-32G>T (n.*961-32G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.99622647A= | CA1480087914 | MTTP | c.2514-30A= (n.2514-30A=) c.2265-30A= (n.2265-30A=) c.2595-30A= (n.2595-30A=) c.*961-30A= (n.*961-30A=) | |
4 | g.99622647A>C | CA800730098 | MTTP | c.2514-30A>C (n.2514-30A>C) c.2265-30A>C (n.2265-30A>C) c.2595-30A>C (n.2595-30A>C) c.*961-30A>C (n.*961-30A>C) | dbSNP |
4 | g.99622649T>A | CA1480087916 | MTTP | c.2514-28T>A (n.2514-28T>A) c.2265-28T>A (n.2265-28T>A) c.2595-28T>A (n.2595-28T>A) c.*961-28T>A (n.*961-28T>A) | dbSNP |
4 | g.99622649T= | CA1480087915 | MTTP | c.2514-28T= (n.2514-28T=) c.2265-28T= (n.2265-28T=) c.2595-28T= (n.2595-28T=) c.*961-28T= (n.*961-28T=) | |
4 | g.99622652T>C | CA2671535534 | MTTP | c.2514-25T>C (n.2514-25T>C) c.2265-25T>C (n.2265-25T>C) c.2595-25T>C (n.2595-25T>C) c.*961-25T>C (n.*961-25T>C) | gnomAD v4 |
4 | g.99622653G>A | CA2671535535 | MTTP | c.2514-24G>A (n.2514-24G>A) c.2265-24G>A (n.2265-24G>A) c.2595-24G>A (n.2595-24G>A) c.*961-24G>A (n.*961-24G>A) | gnomAD v4 |
4 | g.99622653G>T | CA2578152535 | MTTP | c.2514-24G>T (n.2514-24G>T) c.2265-24G>T (n.2265-24G>T) c.2595-24G>T (n.2595-24G>T) c.*961-24G>T (n.*961-24G>T) | |
4 | g.99622654T>A | CA553568502 | MTTP | c.2514-23T>A (n.2514-23T>A) c.2265-23T>A (n.2265-23T>A) c.2595-23T>A (n.2595-23T>A) c.*961-23T>A (n.*961-23T>A) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99622654T= | CA1480087917 | MTTP | c.2514-23T= (n.2514-23T=) c.2265-23T= (n.2265-23T=) c.2595-23T= (n.2595-23T=) c.*961-23T= (n.*961-23T=) | |
4 | g.99622655T>C | CA2671535536 | MTTP | c.2514-22T>C (n.2514-22T>C) c.2265-22T>C (n.2265-22T>C) c.2595-22T>C (n.2595-22T>C) c.*961-22T>C (n.*961-22T>C) | gnomAD v4 |
4 | g.99622656A= | CA1480087919 | MTTP | c.2514-21A= (n.2514-21A=) c.2265-21A= (n.2265-21A=) c.2595-21A= (n.2595-21A=) c.*961-21A= (n.*961-21A=) | |
4 | g.99622656A>G | CA553568503 | MTTP | c.2514-21A>G (n.2514-21A>G) c.2265-21A>G (n.2265-21A>G) c.2595-21A>G (n.2595-21A>G) c.*961-21A>G (n.*961-21A>G) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99622656_99622659delinsATTG | CA1480087918 | MTTP | c.2514-21_2514-18delinsATTG (n.2514-21_2514-18delinsATTG) c.2265-21_2265-18delinsATTG (n.2265-21_2265-18delinsATTG) c.2595-21_2595-18delinsATTG (n.2595-21_2595-18delinsATTG) c.*961-21_*961-18delinsATTG (n.*961-21_*961-18delinsATTG) | |
4 | g.99622657T>C | CA553568505 | MTTP | c.2514-20T>C (n.2514-20T>C) c.2265-20T>C (n.2265-20T>C) c.2595-20T>C (n.2595-20T>C) c.*961-20T>C (n.*961-20T>C) | dbSNP gnomAD v2 |
4 | g.99622657T= | CA1480087920 | MTTP | c.2514-20T= (n.2514-20T=) c.2265-20T= (n.2265-20T=) c.2595-20T= (n.2595-20T=) c.*961-20T= (n.*961-20T=) | |
4 | g.99622660_99622662del | CA553568504 | MTTP | c.2514-17_2514-15del (n.2514-17_2514-15del) c.2265-17_2265-15del (n.2265-17_2265-15del) c.2595-17_2595-15del (n.2595-17_2595-15del) c.*961-17_*961-15del (n.*961-17_*961-15del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.99622658T>C | CA3022390 | MTTP | c.2514-19T>C (n.2514-19T>C) c.2265-19T>C (n.2265-19T>C) c.2595-19T>C (n.2595-19T>C) c.*961-19T>C (n.*961-19T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99622658T>G | CA2671535537 | MTTP | c.2514-19T>G (n.2514-19T>G) c.2265-19T>G (n.2265-19T>G) c.2595-19T>G (n.2595-19T>G) c.*961-19T>G (n.*961-19T>G) | gnomAD v4 |
4 | g.99622658T= | CA1480087921 | MTTP | c.2514-19T= (n.2514-19T=) c.2265-19T= (n.2265-19T=) c.2595-19T= (n.2595-19T=) c.*961-19T= (n.*961-19T=) | |
4 | g.99622659G>A | CA3022391 | MTTP | c.2514-18G>A (n.2514-18G>A) c.2265-18G>A (n.2265-18G>A) c.2595-18G>A (n.2595-18G>A) c.*961-18G>A (n.*961-18G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99622659G>C | CA2671535538 | MTTP | c.2514-18G>C (n.2514-18G>C) c.2265-18G>C (n.2265-18G>C) c.2595-18G>C (n.2595-18G>C) c.*961-18G>C (n.*961-18G>C) | gnomAD v4 |
4 | g.99622659G= | CA1480087922 | MTTP | c.2514-18G= (n.2514-18G=) c.2265-18G= (n.2265-18G=) c.2595-18G= (n.2595-18G=) c.*961-18G= (n.*961-18G=) | |
4 | g.99622659_99622660delinsGT | CA1480087923 | MTTP | c.2514-18_2514-17delinsGT (n.2514-18_2514-17delinsGT) c.2265-18_2265-17delinsGT (n.2265-18_2265-17delinsGT) c.2595-18_2595-17delinsGT (n.2595-18_2595-17delinsGT) c.*961-18_*961-17delinsGT (n.*961-18_*961-17delinsGT) | |
4 | g.99622660T>A | CA2671535539 | MTTP | c.2514-17T>A (n.2514-17T>A) c.2265-17T>A (n.2265-17T>A) c.2595-17T>A (n.2595-17T>A) c.*961-17T>A (n.*961-17T>A) | gnomAD v4 |
4 | g.99622660T>G | CA553568506 | MTTP | c.2514-17T>G (n.2514-17T>G) c.2265-17T>G (n.2265-17T>G) c.2595-17T>G (n.2595-17T>G) c.*961-17T>G (n.*961-17T>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.99622660T= | CA1480087924 | MTTP | c.2514-17T= (n.2514-17T=) c.2265-17T= (n.2265-17T=) c.2595-17T= (n.2595-17T=) c.*961-17T= (n.*961-17T=) | |
4 | g.99622661del | CA800730114 | MTTP | c.2514-16del (n.2514-16del) c.2265-16del (n.2265-16del) c.2595-16del (n.2595-16del) c.*961-16del (n.*961-16del) | dbSNP |
4 | g.99622661T>C | CA3022392 | MTTP | c.2514-16T>C (n.2514-16T>C) c.2265-16T>C (n.2265-16T>C) c.2595-16T>C (n.2595-16T>C) c.*961-16T>C (n.*961-16T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.99622661T= | CA1480087925 | MTTP | c.2514-16T= (n.2514-16T=) c.2265-16T= (n.2265-16T=) c.2595-16T= (n.2595-16T=) c.*961-16T= (n.*961-16T=) | |
4 | g.99622663C>T | CA2671535540 | MTTP | c.2514-14C>T (n.2514-14C>T) c.2265-14C>T (n.2265-14C>T) c.2595-14C>T (n.2595-14C>T) c.*961-14C>T (n.*961-14C>T) | gnomAD v4 |
4 | g.99622663_99622666delinsCTGT | CA1480087926 | MTTP | c.2514-14_2514-11delinsCTGT (n.2514-14_2514-11delinsCTGT) c.2265-14_2265-11delinsCTGT (n.2265-14_2265-11delinsCTGT) c.2595-14_2595-11delinsCTGT (n.2595-14_2595-11delinsCTGT) c.*961-14_*961-11delinsCTGT (n.*961-14_*961-11delinsCTGT) | |
4 | g.99622670_99622672del | CA553568507 | MTTP | c.2514-7_2514-5del (n.2514-7_2514-5del) c.2265-7_2265-5del (n.2265-7_2265-5del) c.2595-7_2595-5del (n.2595-7_2595-5del) c.*961-7_*961-5del (n.*961-7_*961-5del) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99622665G>A | CA3022393 | MTTP | c.2514-12G>A (n.2514-12G>A) c.2265-12G>A (n.2265-12G>A) c.2595-12G>A (n.2595-12G>A) c.*961-12G>A (n.*961-12G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99622665G= | CA1480087927 | MTTP | c.2514-12G= (n.2514-12G=) c.2265-12G= (n.2265-12G=) c.2595-12G= (n.2595-12G=) c.*961-12G= (n.*961-12G=) | |
4 | g.99622666T>C | CA1480087929 | MTTP | c.2514-11T>C (n.2514-11T>C) c.2265-11T>C (n.2265-11T>C) c.2595-11T>C (n.2595-11T>C) c.*961-11T>C (n.*961-11T>C) | dbSNP |
4 | g.99622666T= | CA1480087928 | MTTP | c.2514-11T= (n.2514-11T=) c.2265-11T= (n.2265-11T=) c.2595-11T= (n.2595-11T=) c.*961-11T= (n.*961-11T=) | |
4 | g.99622668del | CA2671535541 | MTTP | c.2514-9del (n.2514-9del) c.2265-9del (n.2265-9del) c.2595-9del (n.2595-9del) c.*961-9del (n.*961-9del) | gnomAD v4 |
4 | g.99622669T>C | CA3022394 | MTTP | c.2514-8T>C (n.2514-8T>C) c.2265-8T>C (n.2265-8T>C) c.2595-8T>C (n.2595-8T>C) c.*961-8T>C (n.*961-8T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.99622669T= | CA1480087930 | MTTP | c.2514-8T= (n.2514-8T=) c.2265-8T= (n.2265-8T=) c.2595-8T= (n.2595-8T=) c.*961-8T= (n.*961-8T=) | |
4 | g.99622670T>C | CA3022395 | MTTP | c.2514-7T>C (n.2514-7T>C) c.2265-7T>C (n.2265-7T>C) c.2595-7T>C (n.2595-7T>C) c.*961-7T>C (n.*961-7T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.99622670T= | CA1480087931 | MTTP | c.2514-7T= (n.2514-7T=) c.2265-7T= (n.2265-7T=) c.2595-7T= (n.2595-7T=) c.*961-7T= (n.*961-7T=) | |
4 | g.99622671G>A | CA2499217362 | MTTP | c.2514-6G>A (n.2514-6G>A) c.2265-6G>A (n.2265-6G>A) c.2595-6G>A (n.2595-6G>A) c.*961-6G>A (n.*961-6G>A) | ClinVar dbSNP gnomAD v4 |
4 | g.99622671G>T | CA2573138523 | MTTP | c.2514-6G>T (n.2514-6G>T) c.2265-6G>T (n.2265-6G>T) c.2595-6G>T (n.2595-6G>T) c.*961-6G>T (n.*961-6G>T) | ClinVar dbSNP gnomAD v4 |
4 | g.99622672T>C | CA1480087933 | MTTP | c.2514-5T>C (n.2514-5T>C) c.2265-5T>C (n.2265-5T>C) c.2595-5T>C (n.2595-5T>C) c.*961-5T>C (n.*961-5T>C) | dbSNP |
4 | g.99622672T>G | CA2762808580 | MTTP | c.2514-5T>G (n.2514-5T>G) c.2265-5T>G (n.2265-5T>G) c.2595-5T>G (n.2595-5T>G) c.*961-5T>G (n.*961-5T>G) | |
4 | g.99622672T= | CA1480087932 | MTTP | c.2514-5T= (n.2514-5T=) c.2265-5T= (n.2265-5T=) c.2595-5T= (n.2595-5T=) c.*961-5T= (n.*961-5T=) | |
4 | g.99622673A= | CA1480087934 | MTTP | c.2514-4A= (n.2514-4A=) c.2265-4A= (n.2265-4A=) c.2595-4A= (n.2595-4A=) c.*961-4A= (n.*961-4A=) | |
4 | g.99622673A>G | CA1480087935 | MTTP | c.2514-4A>G (n.2514-4A>G) c.2265-4A>G (n.2265-4A>G) c.2595-4A>G (n.2595-4A>G) c.*961-4A>G (n.*961-4A>G) | dbSNP |
4 | g.99622674C>A | CA102652202 | MTTP | c.2514-3C>A (n.2514-3C>A) c.2265-3C>A (n.2265-3C>A) c.2595-3C>A (n.2595-3C>A) c.*961-3C>A (n.*961-3C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99622674C= | CA1480087936 | MTTP | c.2514-3C= (n.2514-3C=) c.2265-3C= (n.2265-3C=) c.2595-3C= (n.2595-3C=) c.*961-3C= (n.*961-3C=) | |
4 | g.99622674C>T | CA553568508 | MTTP | c.2514-3C>T (n.2514-3C>T) c.2265-3C>T (n.2265-3C>T) c.2595-3C>T (n.2595-3C>T) c.*961-3C>T (n.*961-3C>T) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99622675A>C | CA357520107 | MTTP | c.2514-2A>C (n.2514-2A>C) c.2265-2A>C (n.2265-2A>C) c.2595-2A>C (n.2595-2A>C) c.*961-2A>C (n.*961-2A>C) | |
4 | g.99622675A>G | CA357520104 | MTTP | c.2514-2A>G (n.2514-2A>G) c.2265-2A>G (n.2265-2A>G) c.2595-2A>G (n.2595-2A>G) c.*961-2A>G (n.*961-2A>G) | |
4 | g.99622675A>T | CA357520106 | MTTP | c.2514-2A>T (n.2514-2A>T) c.2265-2A>T (n.2265-2A>T) c.2595-2A>T (n.2595-2A>T) c.*961-2A>T (n.*961-2A>T) | |
4 | g.99622676G>A | CA357520109 | MTTP | c.2514-1G>A (n.2514-1G>A) c.2265-1G>A (n.2265-1G>A) c.2595-1G>A (n.2595-1G>A) c.*961-1G>A (n.*961-1G>A) | |
4 | g.99622676G>C | CA357520110 | MTTP | c.2514-1G>C (n.2514-1G>C) c.2265-1G>C (n.2265-1G>C) c.2595-1G>C (n.2595-1G>C) c.*961-1G>C (n.*961-1G>C) | |
4 | g.99622676G>T | CA357520112 | MTTP | c.2514-1G>T (n.2514-1G>T) c.2265-1G>T (n.2265-1G>T) c.2595-1G>T (n.2595-1G>T) c.*961-1G>T (n.*961-1G>T) | |
4 | g.99622677G>A | CA440332807 | MTTP | c.2514G>A (p.Arg838=) c.2265G>A (p.Arg755=) c.2595G>A (p.Arg865=) c.*961G>A (n.*961G>A) | gnomAD v4 |
4 | g.99622677G>C | CA357520113 | MTTP | c.2514G>C (p.Arg838Ser) c.2265G>C (p.Arg755Ser) c.2595G>C (p.Arg865Ser) c.*961G>C (n.*961G>C) | |
4 | g.99622677G>T | CA357520115 | MTTP | c.2514G>T (p.Arg838Ser) c.2265G>T (p.Arg755Ser) c.2595G>T (p.Arg865Ser) c.*961G>T (n.*961G>T) | gnomAD v4 |
4 | g.99622678C>A | CA357520116 | MTTP | c.2515C>A (p.Gln839Lys) c.2266C>A (p.Gln756Lys) c.2596C>A (p.Gln866Lys) c.*962C>A (n.*962C>A) | |
4 | g.99622678C= | CA1480087937 | MTTP | c.2515C= (p.Gln839=) c.2266C= (p.Gln756=) c.2596C= (p.Gln866=) c.*962C= (n.*962C=) | |
4 | g.99622678C>G | CA357520118 | MTTP | c.2515C>G (p.Gln839Glu) c.2266C>G (p.Gln756Glu) c.2596C>G (p.Gln866Glu) c.*962C>G (n.*962C>G) | |
4 | g.99622678C>T | CA357520120 | MTTP | c.2515C>T (p.Gln839Ter) c.2266C>T (p.Gln756Ter) c.2596C>T (p.Gln866Ter) c.*962C>T (n.*962C>T) | ClinVar dbSNP |
4 | g.99622679A= | CA1480087938 | MTTP | c.2516A= (p.Gln839=) c.2267A= (p.Gln756=) c.2597A= (p.Gln866=) c.*963A= (n.*963A=) | |
4 | g.99622679A>C | CA357520121 | MTTP | c.2516A>C (p.Gln839Pro) c.2267A>C (p.Gln756Pro) c.2597A>C (p.Gln866Pro) c.*963A>C (n.*963A>C) | |
4 | g.99622679A>G | CA357520123 | MTTP | c.2516A>G (p.Gln839Arg) c.2267A>G (p.Gln756Arg) c.2597A>G (p.Gln866Arg) c.*963A>G (n.*963A>G) | gnomAD v4 |
4 | g.99622679A>T | CA3022396 | MTTP | c.2516A>T (p.Gln839Leu) c.2267A>T (p.Gln756Leu) c.2597A>T (p.Gln866Leu) c.*963A>T (n.*963A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99622680A= | CA1480087939 | MTTP | c.2517A= (p.Gln839=) c.2268A= (p.Gln756=) c.2598A= (p.Gln866=) c.*964A= (n.*964A=) | |
4 | g.99622680A>C | CA357520128 | MTTP | c.2517A>C (p.Gln839His) c.2268A>C (p.Gln756His) c.2598A>C (p.Gln866His) c.*964A>C (n.*964A>C) | |
4 | g.99622680A>G | CA3022397 | MTTP | c.2517A>G (p.Gln839=) c.2268A>G (p.Gln756=) c.2598A>G (p.Gln866=) c.*964A>G (n.*964A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.99622680A>T | CA357520125 | MTTP | c.2517A>T (p.Gln839His) c.2268A>T (p.Gln756His) c.2598A>T (p.Gln866His) c.*964A>T (n.*964A>T) | |
4 | g.99622681T>A | CA357520129 | MTTP | c.2518T>A (p.Phe840Ile) c.2269T>A (p.Phe757Ile) c.2599T>A (p.Phe867Ile) c.*965T>A (n.*965T>A) | |
4 | g.99622681T>C | CA357520131 | MTTP | c.2518T>C (p.Phe840Leu) c.2269T>C (p.Phe757Leu) c.2599T>C (p.Phe867Leu) c.*965T>C (n.*965T>C) | |
4 | g.99622681T>G | CA357520130 | MTTP | c.2518T>G (p.Phe840Val) c.2269T>G (p.Phe757Val) c.2599T>G (p.Phe867Val) c.*965T>G (n.*965T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99622681T= | CA1480087940 | MTTP | c.2518T= (p.Phe840=) c.2269T= (p.Phe757=) c.2599T= (p.Phe867=) c.*965T= (n.*965T=) | |
4 | g.99622682T>A | CA357520134 | MTTP | c.2519T>A (p.Phe840Tyr) c.2270T>A (p.Phe757Tyr) c.2600T>A (p.Phe867Tyr) c.*966T>A (n.*966T>A) | |
4 | g.99622682T>C | CA357520136 | MTTP | c.2519T>C (p.Phe840Ser) c.2270T>C (p.Phe757Ser) c.2600T>C (p.Phe867Ser) c.*966T>C (n.*966T>C) | COSMIC |
4 | g.99622682T>G | CA357520137 | MTTP | c.2519T>G (p.Phe840Cys) c.2270T>G (p.Phe757Cys) c.2600T>G (p.Phe867Cys) c.*966T>G (n.*966T>G) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99622682T= | CA1480087941 | MTTP | c.2519T= (p.Phe840=) c.2270T= (p.Phe757=) c.2600T= (p.Phe867=) c.*966T= (n.*966T=) | |
4 | g.99622683T>A | CA357520139 | MTTP | c.2520T>A (p.Phe840Leu) c.2271T>A (p.Phe757Leu) c.2601T>A (p.Phe867Leu) c.*967T>A (n.*967T>A) | |
4 | g.99622683T>C | CA440332823 | MTTP | c.2520T>C (p.Phe840=) c.2271T>C (p.Phe757=) c.2601T>C (p.Phe867=) c.*967T>C (n.*967T>C) | |
4 | g.99622683T>G | CA357520140 | MTTP | c.2520T>G (p.Phe840Leu) c.2271T>G (p.Phe757Leu) c.2601T>G (p.Phe867Leu) c.*967T>G (n.*967T>G) | |
4 | g.99622684G>A | CA357520142 | MTTP | c.2521G>A (p.Glu841Lys) c.2272G>A (p.Glu758Lys) c.2602G>A (p.Glu868Lys) c.*968G>A (n.*968G>A) | |
4 | g.99622684G>C | CA357520143 | MTTP | c.2521G>C (p.Glu841Gln) c.2272G>C (p.Glu758Gln) c.2602G>C (p.Glu868Gln) c.*968G>C (n.*968G>C) | |
4 | g.99622684G>T | CA357520145 | MTTP | c.2521G>T (p.Glu841Ter) c.2272G>T (p.Glu758Ter) c.2602G>T (p.Glu868Ter) c.*968G>T (n.*968G>T) | |
4 | g.99622685A= | CA1480087942 | MTTP | c.2522A= (p.Glu841=) c.2273A= (p.Glu758=) c.2603A= (p.Glu868=) c.*969A= (n.*969A=) | |
4 | g.99622685A>C | CA357520147 | MTTP | c.2522A>C (p.Glu841Ala) c.2273A>C (p.Glu758Ala) c.2603A>C (p.Glu868Ala) c.*969A>C (n.*969A>C) | |
4 | g.99622685A>G | CA3022398 | MTTP | c.2522A>G (p.Glu841Gly) c.2273A>G (p.Glu758Gly) c.2603A>G (p.Glu868Gly) c.*969A>G (n.*969A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.99622685A>T | CA357520148 | MTTP | c.2522A>T (p.Glu841Val) c.2273A>T (p.Glu758Val) c.2603A>T (p.Glu868Val) c.*969A>T (n.*969A>T) | |
4 | g.99622686G>A | CA440332836 | MTTP | c.2523G>A (p.Glu841=) c.2274G>A (p.Glu758=) c.2604G>A (p.Glu868=) c.*970G>A (n.*970G>A) | COSMIC |
4 | g.99622686G>C | CA357520152 | MTTP | c.2523G>C (p.Glu841Asp) c.2274G>C (p.Glu758Asp) c.2604G>C (p.Glu868Asp) c.*970G>C (n.*970G>C) | |
4 | g.99622686G>T | CA357520150 | MTTP | c.2523G>T (p.Glu841Asp) c.2274G>T (p.Glu758Asp) c.2604G>T (p.Glu868Asp) c.*970G>T (n.*970G>T) | |
4 | g.99622687A>C | CA357520154 | MTTP | c.2524A>C (p.Lys842Gln) c.2275A>C (p.Lys759Gln) c.2605A>C (p.Lys869Gln) c.*971A>C (n.*971A>C) | |
4 | g.99622687A>G | CA357520155 | MTTP | c.2524A>G (p.Lys842Glu) c.2275A>G (p.Lys759Glu) c.2605A>G (p.Lys869Glu) c.*971A>G (n.*971A>G) | |
4 | g.99622687A>T | CA357520156 | MTTP | c.2524A>T (p.Lys842Ter) c.2275A>T (p.Lys759Ter) c.2605A>T (p.Lys869Ter) c.*971A>T (n.*971A>T) | |
4 | g.99622688A>C | CA357520158 | MTTP | c.2525A>C (p.Lys842Thr) c.2276A>C (p.Lys759Thr) c.2606A>C (p.Lys869Thr) c.*972A>C (n.*972A>C) | |
4 | g.99622688A>G | CA357520160 | MTTP | c.2525A>G (p.Lys842Arg) c.2276A>G (p.Lys759Arg) c.2606A>G (p.Lys869Arg) c.*972A>G (n.*972A>G) | |
4 | g.99622688A>T | CA357520161 | MTTP | c.2525A>T (p.Lys842Ile) c.2276A>T (p.Lys759Ile) c.2606A>T (p.Lys869Ile) c.*972A>T (n.*972A>T) | |
4 | g.99622689A= | CA1480087943 | MTTP | c.2526A= (p.Lys842=) c.2277A= (p.Lys759=) c.2607A= (p.Lys869=) c.*973A= (n.*973A=) | |
4 | g.99622689A>C | CA357520163 | MTTP | c.2526A>C (p.Lys842Asn) c.2277A>C (p.Lys759Asn) c.2607A>C (p.Lys869Asn) c.*973A>C (n.*973A>C) | |
4 | g.99622689A>G | CA102652244 | MTTP | c.2526A>G (p.Lys842=) c.2277A>G (p.Lys759=) c.2607A>G (p.Lys869=) c.*973A>G (n.*973A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.99622689A>T | CA357520166 | MTTP | c.2526A>T (p.Lys842Asn) c.2277A>T (p.Lys759Asn) c.2607A>T (p.Lys869Asn) c.*973A>T (n.*973A>T) | |
4 | g.99622690A>C | CA357520167 | MTTP | c.2527A>C (p.Lys843Gln) c.2278A>C (p.Lys760Gln) c.2608A>C (p.Lys870Gln) c.*974A>C (n.*974A>C) | |
4 | g.99622690A>G | CA357520168 | MTTP | c.2527A>G (p.Lys843Glu) c.2278A>G (p.Lys760Glu) c.2608A>G (p.Lys870Glu) c.*974A>G (n.*974A>G) | |
4 | g.99622690A>T | CA357520170 | MTTP | c.2527A>T (p.Lys843Ter) c.2278A>T (p.Lys760Ter) c.2608A>T (p.Lys870Ter) c.*974A>T (n.*974A>T) | |
4 | g.99622691A>C | CA357520172 | MTTP | c.2528A>C (p.Lys843Thr) c.2279A>C (p.Lys760Thr) c.2609A>C (p.Lys870Thr) c.*975A>C (n.*975A>C) | |
4 | g.99622691A>G | CA357520174 | MTTP | c.2528A>G (p.Lys843Arg) c.2279A>G (p.Lys760Arg) c.2609A>G (p.Lys870Arg) c.*975A>G (n.*975A>G) | |
4 | g.99622691A>T | CA357520171 | MTTP | c.2528A>T (p.Lys843Met) c.2279A>T (p.Lys760Met) c.2609A>T (p.Lys870Met) c.*975A>T (n.*975A>T) | |
4 | g.99622692G>A | CA440332855 | MTTP | c.2529G>A (p.Lys843=) c.2280G>A (p.Lys760=) c.2610G>A (p.Lys870=) c.*976G>A (n.*976G>A) | |
4 | g.99622692G>C | CA357520175 | MTTP | c.2529G>C (p.Lys843Asn) c.2280G>C (p.Lys760Asn) c.2610G>C (p.Lys870Asn) c.*976G>C (n.*976G>C) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.99622692G= | CA1480087944 | MTTP | c.2529G= (p.Lys843=) c.2280G= (p.Lys760=) c.2610G= (p.Lys870=) c.*976G= (n.*976G=) | |
4 | g.99622692G>T | CA357520176 | MTTP | c.2529G>T (p.Lys843Asn) c.2280G>T (p.Lys760Asn) c.2610G>T (p.Lys870Asn) c.*976G>T (n.*976G>T) | gnomAD v4 |
4 | g.99622693T>A | CA357520179 | MTTP | c.2530T>A (p.Tyr844Asn) c.2281T>A (p.Tyr761Asn) c.2611T>A (p.Tyr871Asn) c.*977T>A (n.*977T>A) | |
4 | g.99622693T>C | CA357520180 | MTTP | c.2530T>C (p.Tyr844His) c.2281T>C (p.Tyr761His) c.2611T>C (p.Tyr871His) c.*977T>C (n.*977T>C) | |
4 | g.99622693T>G | CA357520182 | MTTP | c.2530T>G (p.Tyr844Asp) c.2281T>G (p.Tyr761Asp) c.2611T>G (p.Tyr871Asp) c.*977T>G (n.*977T>G) | |
4 | g.99622694A>C | CA357520186 | MTTP | c.2531A>C (p.Tyr844Ser) c.2282A>C (p.Tyr761Ser) c.2612A>C (p.Tyr871Ser) c.*978A>C (n.*978A>C) | |
4 | g.99622694A>G | CA357520184 | MTTP | c.2531A>G (p.Tyr844Cys) c.2282A>G (p.Tyr761Cys) c.2612A>G (p.Tyr871Cys) c.*978A>G (n.*978A>G) | |
4 | g.99622694A>T | CA357520183 | MTTP | c.2531A>T (p.Tyr844Phe) c.2282A>T (p.Tyr761Phe) c.2612A>T (p.Tyr871Phe) c.*978A>T (n.*978A>T) | |
4 | g.99622695C>A | CA357520188 | MTTP | c.2532C>A (p.Tyr844Ter) c.2283C>A (p.Tyr761Ter) c.2613C>A (p.Tyr871Ter) c.*979C>A (n.*979C>A) | |
4 | g.99622695C= | CA1480087945 | MTTP | c.2532C= (p.Tyr844=) c.2283C= (p.Tyr761=) c.2613C= (p.Tyr871=) c.*979C= (n.*979C=) | |
4 | g.99622695C>G | CA357520190 | MTTP | c.2532C>G (p.Tyr844Ter) c.2283C>G (p.Tyr761Ter) c.2613C>G (p.Tyr871Ter) c.*979C>G (n.*979C>G) | |
4 | g.99622695C>T | CA3022399 | MTTP | c.2532C>T (p.Tyr844=) c.2283C>T (p.Tyr761=) c.2613C>T (p.Tyr871=) c.*979C>T (n.*979C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.99622696G>A | CA3022400 | MTTP | c.2533G>A (p.Glu845Lys) c.2284G>A (p.Glu762Lys) c.2614G>A (p.Glu872Lys) c.*980G>A (n.*980G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.99622696G>C | CA357520192 | MTTP | c.2533G>C (p.Glu845Gln) c.2284G>C (p.Glu762Gln) c.2614G>C (p.Glu872Gln) c.*980G>C (n.*980G>C) | gnomAD v4 |
4 | g.99622696G= | CA1480087946 | MTTP | c.2533G= (p.Glu845=) c.2284G= (p.Glu762=) c.2614G= (p.Glu872=) c.*980G= (n.*980G=) | |
4 | g.99622696G>T | CA357520194 | MTTP | c.2533G>T (p.Glu845Ter) c.2284G>T (p.Glu762Ter) c.2614G>T (p.Glu872Ter) c.*980G>T (n.*980G>T) | COSMIC |
4 | g.99622697A>C | CA357520196 | MTTP | c.2534A>C (p.Glu845Ala) c.2285A>C (p.Glu762Ala) c.2615A>C (p.Glu872Ala) c.*981A>C (n.*981A>C) | |
4 | g.99622697A>G | CA357520199 | MTTP | c.2534A>G (p.Glu845Gly) c.2285A>G (p.Glu762Gly) c.2615A>G (p.Glu872Gly) c.*981A>G (n.*981A>G) | |
4 | g.99622697A>T | CA357520197 | MTTP | c.2534A>T (p.Glu845Val) c.2285A>T (p.Glu762Val) c.2615A>T (p.Glu872Val) c.*981A>T (n.*981A>T) | |
4 | g.99622698A= | CA1480087947 | MTTP | c.2535A= (p.Glu845=) c.2286A= (p.Glu762=) c.2616A= (p.Glu872=) c.*982A= (n.*982A=) | |
4 | g.99622698A>C | CA357520201 | MTTP | c.2535A>C (p.Glu845Asp) c.2286A>C (p.Glu762Asp) c.2616A>C (p.Glu872Asp) c.*982A>C (n.*982A>C) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99622698A>G | CA440332871 | MTTP | c.2535A>G (p.Glu845=) c.2286A>G (p.Glu762=) c.2616A>G (p.Glu872=) c.*982A>G (n.*982A>G) | |
4 | g.99622698A>T | CA357520202 | MTTP | c.2535A>T (p.Glu845Asp) c.2286A>T (p.Glu762Asp) c.2616A>T (p.Glu872Asp) c.*982A>T (n.*982A>T) | |
4 | g.99622699A= | CA1480087948 | MTTP | c.2536A= (p.Arg846=) c.2287A= (p.Arg763=) c.2617A= (p.Arg873=) c.*983A= (n.*983A=) | |
4 | g.99622699A>C | CA440332874 | MTTP | c.2536A>C (p.Arg846=) c.2287A>C (p.Arg763=) c.2617A>C (p.Arg873=) c.*983A>C (n.*983A>C) | ClinVar |
4 | g.99622699A>G | CA357520203 | MTTP | c.2536A>G (p.Arg846Gly) c.2287A>G (p.Arg763Gly) c.2617A>G (p.Arg873Gly) c.*983A>G (n.*983A>G) | |
4 | g.99622699A>T | CA102652265 | MTTP | c.2536A>T (p.Arg846Trp) c.2287A>T (p.Arg763Trp) c.2617A>T (p.Arg873Trp) c.*983A>T (n.*983A>T) | dbSNP |
4 | g.99622700G>A | CA357520206 | MTTP | c.2537G>A (p.Arg846Lys) c.2288G>A (p.Arg763Lys) c.2618G>A (p.Arg873Lys) c.*984G>A (n.*984G>A) | |
4 | g.99622700G>C | CA357520207 | MTTP | c.2537G>C (p.Arg846Thr) c.2288G>C (p.Arg763Thr) c.2618G>C (p.Arg873Thr) c.*984G>C (n.*984G>C) | |
4 | g.99622700G= | CA1480087949 | MTTP | c.2537G= (p.Arg846=) c.2288G= (p.Arg763=) c.2618G= (p.Arg873=) c.*984G= (n.*984G=) | |
4 | g.99622700G>T | CA357520208 | MTTP | c.2537G>T (p.Arg846Met) c.2288G>T (p.Arg763Met) c.2618G>T (p.Arg873Met) c.*984G>T (n.*984G>T) | dbSNP |
4 | g.99622701G>A | CA440332881 | MTTP | c.2538G>A (p.Arg846=) c.2289G>A (p.Arg763=) c.2619G>A (p.Arg873=) c.*985G>A (n.*985G>A) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99622701G>C | CA3022401 | MTTP | c.2538G>C (p.Arg846Ser) c.2289G>C (p.Arg763Ser) c.2619G>C (p.Arg873Ser) c.*985G>C (n.*985G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.99622701G= | CA1480087950 | MTTP | c.2538G= (p.Arg846=) c.2289G= (p.Arg763=) c.2619G= (p.Arg873=) c.*985G= (n.*985G=) | |
4 | g.99622701G>T | CA357520211 | MTTP | c.2538G>T (p.Arg846Ser) c.2289G>T (p.Arg763Ser) c.2619G>T (p.Arg873Ser) c.*985G>T (n.*985G>T) | dbSNP gnomAD v4 |
4 | g.99622702C>A | CA357520213 | MTTP | c.2539C>A (p.Leu847Met) c.2290C>A (p.Leu764Met) c.2620C>A (p.Leu874Met) c.*986C>A (n.*986C>A) | |
4 | g.99622702C>G | CA357520214 | MTTP | c.2539C>G (p.Leu847Val) c.2290C>G (p.Leu764Val) c.2620C>G (p.Leu874Val) c.*986C>G (n.*986C>G) | |
4 | g.99622702C>T | CA440332886 | MTTP | c.2539C>T (p.Leu847=) c.2290C>T (p.Leu764=) c.2620C>T (p.Leu874=) c.*986C>T (n.*986C>T) | |
4 | g.99622703T>A | CA357520219 | MTTP | c.2540T>A (p.Leu847Gln) c.2291T>A (p.Leu764Gln) c.2621T>A (p.Leu874Gln) c.*987T>A (n.*987T>A) | |
4 | g.99622703T>C | CA357520218 | MTTP | c.2540T>C (p.Leu847Pro) c.2291T>C (p.Leu764Pro) c.2621T>C (p.Leu874Pro) c.*987T>C (n.*987T>C) | |
4 | g.99622703T>G | CA357520216 | MTTP | c.2540T>G (p.Leu847Arg) c.2291T>G (p.Leu764Arg) c.2621T>G (p.Leu874Arg) c.*987T>G (n.*987T>G) | |
4 | g.99622704G>A | CA440332891 | MTTP | c.2541G>A (p.Leu847=) c.2292G>A (p.Leu764=) c.2622G>A (p.Leu874=) c.*988G>A (n.*988G>A) | ClinVar dbSNP gnomAD v4 |
4 | g.99622704G>C | CA440332893 | MTTP | c.2541G>C (p.Leu847=) c.2292G>C (p.Leu764=) c.2622G>C (p.Leu874=) c.*988G>C (n.*988G>C) | |
4 | g.99622704G>T | CA440332894 | MTTP | c.2541G>T (p.Leu847=) c.2292G>T (p.Leu764=) c.2622G>T (p.Leu874=) c.*988G>T (n.*988G>T) | |
4 | g.99622705T>A | CA357520222 | MTTP | c.2542T>A (p.Ser848Thr) c.2293T>A (p.Ser765Thr) c.2623T>A (p.Ser875Thr) c.*989T>A (n.*989T>A) | |
4 | g.99622705T>C | CA357520224 | MTTP | c.2542T>C (p.Ser848Pro) c.2293T>C (p.Ser765Pro) c.2623T>C (p.Ser875Pro) c.*989T>C (n.*989T>C) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99622705T>G | CA357520223 | MTTP | c.2542T>G (p.Ser848Ala) c.2293T>G (p.Ser765Ala) c.2623T>G (p.Ser875Ala) c.*989T>G (n.*989T>G) | |
4 | g.99622705T= | CA1480087951 | MTTP | c.2542T= (p.Ser848=) c.2293T= (p.Ser765=) c.2623T= (p.Ser875=) c.*989T= (n.*989T=) | |
4 | g.99622706C>A | CA357520226 | MTTP | c.2543C>A (p.Ser848Tyr) c.2294C>A (p.Ser765Tyr) c.2624C>A (p.Ser875Tyr) c.*990C>A (n.*990C>A) | |
4 | g.99622706C>G | CA357520229 | MTTP | c.2543C>G (p.Ser848Cys) c.2294C>G (p.Ser765Cys) c.2624C>G (p.Ser875Cys) c.*990C>G (n.*990C>G) | |
4 | g.99622706C>T | CA357520228 | MTTP | c.2543C>T (p.Ser848Phe) c.2294C>T (p.Ser765Phe) c.2624C>T (p.Ser875Phe) c.*990C>T (n.*990C>T) | |
4 | g.99622707C>A | CA440332905 | MTTP | c.2544C>A (p.Ser848=) c.2295C>A (p.Ser765=) c.2625C>A (p.Ser875=) c.*991C>A (n.*991C>A) | |
4 | g.99622707C>G | CA440332908 | MTTP | c.2544C>G (p.Ser848=) c.2295C>G (p.Ser765=) c.2625C>G (p.Ser875=) c.*991C>G (n.*991C>G) | |
4 | g.99622707C>T | CA440332907 | MTTP | c.2544C>T (p.Ser848=) c.2295C>T (p.Ser765=) c.2625C>T (p.Ser875=) c.*991C>T (n.*991C>T) | |
4 | g.99622708A>C | CA357520231 | MTTP | c.2545A>C (p.Thr849Pro) c.2296A>C (p.Thr766Pro) c.2626A>C (p.Thr876Pro) c.*992A>C (n.*992A>C) | |
4 | g.99622708A>G | CA357520234 | MTTP | c.2545A>G (p.Thr849Ala) c.2296A>G (p.Thr766Ala) c.2626A>G (p.Thr876Ala) c.*992A>G (n.*992A>G) | |
4 | g.99622708A>T | CA357520232 | MTTP | c.2545A>T (p.Thr849Ser) c.2296A>T (p.Thr766Ser) c.2626A>T (p.Thr876Ser) c.*992A>T (n.*992A>T) | |
4 | g.99622709C>A | CA357520236 | MTTP | c.2546C>A (p.Thr849Lys) c.2297C>A (p.Thr766Lys) c.2627C>A (p.Thr876Lys) c.*993C>A (n.*993C>A) | |
4 | g.99622709C= | CA1480087952 | MTTP | c.2546C= (p.Thr849=) c.2297C= (p.Thr766=) c.2627C= (p.Thr876=) c.*993C= (n.*993C=) | |
4 | g.99622709C>G | CA357520238 | MTTP | c.2546C>G (p.Thr849Arg) c.2297C>G (p.Thr766Arg) c.2627C>G (p.Thr876Arg) c.*993C>G (n.*993C>G) | dbSNP gnomAD v2 |
4 | g.99622709C>T | CA357520239 | MTTP | c.2546C>T (p.Thr849Ile) c.2297C>T (p.Thr766Ile) c.2627C>T (p.Thr876Ile) c.*993C>T (n.*993C>T) | gnomAD v4 |
4 | g.99622710A>C | CA440332918 | MTTP | c.2547A>C (p.Thr849=) c.2298A>C (p.Thr766=) c.2628A>C (p.Thr876=) c.*994A>C (n.*994A>C) | |
4 | g.99622710A>G | CA440332920 | MTTP | c.2547A>G (p.Thr849=) c.2298A>G (p.Thr766=) c.2628A>G (p.Thr876=) c.*994A>G (n.*994A>G) | |
4 | g.99622710A>T | CA440332922 | MTTP | c.2547A>T (p.Thr849=) c.2298A>T (p.Thr766=) c.2628A>T (p.Thr876=) c.*994A>T (n.*994A>T) | |
4 | g.99622711G>A | CA357520240 | MTTP | c.2548G>A (p.Gly850Ser) c.2299G>A (p.Gly767Ser) c.2629G>A (p.Gly877Ser) c.*995G>A (n.*995G>A) | gnomAD v4 |
4 | g.99622711G>C | CA357520242 | MTTP | c.2548G>C (p.Gly850Arg) c.2299G>C (p.Gly767Arg) c.2629G>C (p.Gly877Arg) c.*995G>C (n.*995G>C) | |
4 | g.99622711G>T | CA357520243 | MTTP | c.2548G>T (p.Gly850Cys) c.2299G>T (p.Gly767Cys) c.2629G>T (p.Gly877Cys) c.*995G>T (n.*995G>T) | |
4 | g.99622712G>A | CA357520245 | MTTP | c.2549G>A (p.Gly850Asp) c.2300G>A (p.Gly767Asp) c.2630G>A (p.Gly877Asp) c.*996G>A (n.*996G>A) | gnomAD v4 |
4 | g.99622712G>C | CA357520247 | MTTP | c.2549G>C (p.Gly850Ala) c.2300G>C (p.Gly767Ala) c.2630G>C (p.Gly877Ala) c.*996G>C (n.*996G>C) | |
4 | g.99622712G>T | CA357520248 | MTTP | c.2549G>T (p.Gly850Val) c.2300G>T (p.Gly767Val) c.2630G>T (p.Gly877Val) c.*996G>T (n.*996G>T) | |
4 | g.99622713C>A | CA440332930 | MTTP | c.2550C>A (p.Gly850=) c.2301C>A (p.Gly767=) c.2631C>A (p.Gly877=) c.*997C>A (n.*997C>A) | |
4 | g.99622713C= | CA1480087953 | MTTP | c.2550C= (p.Gly850=) c.2301C= (p.Gly767=) c.2631C= (p.Gly877=) c.*997C= (n.*997C=) | |
4 | g.99622713C>G | CA440332932 | MTTP | c.2550C>G (p.Gly850=) c.2301C>G (p.Gly767=) c.2631C>G (p.Gly877=) c.*997C>G (n.*997C>G) | ClinVar dbSNP |
4 | g.99622713C>T | CA440332934 | MTTP | c.2550C>T (p.Gly850=) c.2301C>T (p.Gly767=) c.2631C>T (p.Gly877=) c.*997C>T (n.*997C>T) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99622714A= | CA1480087954 | MTTP | c.2551A= (p.Arg851=) c.2302A= (p.Arg768=) c.2632A= (p.Arg878=) c.*998A= (n.*998A=) | |
4 | g.99622714A>C | CA440332936 | MTTP | c.2551A>C (p.Arg851=) c.2302A>C (p.Arg768=) c.2632A>C (p.Arg878=) c.*998A>C (n.*998A>C) | |
4 | g.99622714A>G | CA357520249 | MTTP | c.2551A>G (p.Arg851Gly) c.2302A>G (p.Arg768Gly) c.2632A>G (p.Arg878Gly) c.*998A>G (n.*998A>G) | |
4 | g.99622714A>T | CA357520251 | MTTP | c.2551A>T (p.Arg851Ter) c.2302A>T (p.Arg768Ter) c.2632A>T (p.Arg878Ter) c.*998A>T (n.*998A>T) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99622715G>A | CA357520256 | MTTP | c.2552G>A (p.Arg851Lys) c.2303G>A (p.Arg768Lys) c.2633G>A (p.Arg878Lys) c.*999G>A (n.*999G>A) | gnomAD v4 |
4 | g.99622715G>C | CA357520255 | MTTP | c.2552G>C (p.Arg851Thr) c.2303G>C (p.Arg768Thr) c.2633G>C (p.Arg878Thr) c.*999G>C (n.*999G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.99622715G= | CA1480087955 | MTTP | c.2552G= (p.Arg851=) c.2303G= (p.Arg768=) c.2633G= (p.Arg878=) c.*999G= (n.*999G=) | |
4 | g.99622715G>T | CA357520253 | MTTP | c.2552G>T (p.Arg851Ile) c.2303G>T (p.Arg768Ile) c.2633G>T (p.Arg878Ile) c.*999G>T (n.*999G>T) | |
4 | g.99622716A= | CA1480087956 | MTTP | c.2553A= (p.Arg851=) c.2304A= (p.Arg768=) c.2634A= (p.Arg878=) c.*1000A= (n.*1000A=) | |
4 | g.99622716A>C | CA357520257 | MTTP | c.2553A>C (p.Arg851Ser) c.2304A>C (p.Arg768Ser) c.2634A>C (p.Arg878Ser) c.*1000A>C (n.*1000A>C) | dbSNP gnomAD v4 |
4 | g.99622716A>G | CA440332943 | MTTP | c.2553A>G (p.Arg851=) c.2304A>G (p.Arg768=) c.2634A>G (p.Arg878=) c.*1000A>G (n.*1000A>G) | |
4 | g.99622716A>T | CA357520259 | MTTP | c.2553A>T (p.Arg851Ser) c.2304A>T (p.Arg768Ser) c.2634A>T (p.Arg878Ser) c.*1000A>T (n.*1000A>T) | |
4 | g.99622717G>A | CA357520261 | MTTP | c.2554G>A (p.Gly852Ser) c.2305G>A (p.Gly769Ser) c.2635G>A (p.Gly879Ser) c.*1001G>A (n.*1001G>A) | |
4 | g.99622717G>C | CA357520262 | MTTP | c.2554G>C (p.Gly852Arg) c.2305G>C (p.Gly769Arg) c.2635G>C (p.Gly879Arg) c.*1001G>C (n.*1001G>C) | |
4 | g.99622717G>T | CA357520263 | MTTP | c.2554G>T (p.Gly852Cys) c.2305G>T (p.Gly769Cys) c.2635G>T (p.Gly879Cys) c.*1001G>T (n.*1001G>T) | |
4 | g.99622717_99622723dup | CA553568509 | MTTP | c.2554_2560dup (p.Val854GlyfsTer16) c.2305_2311dup (p.Val771GlyfsTer16) c.2635_2641dup (p.Val881GlyfsTer16) c.*1001_*1007dup (n.*1001_*1007dup) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99622718G>A | CA357520265 | MTTP | c.2555G>A (p.Gly852Asp) c.2306G>A (p.Gly769Asp) c.2636G>A (p.Gly879Asp) c.*1002G>A (n.*1002G>A) | gnomAD v4 |
4 | g.99622718G>C | CA357520266 | MTTP | c.2555G>C (p.Gly852Ala) c.2306G>C (p.Gly769Ala) c.2636G>C (p.Gly879Ala) c.*1002G>C (n.*1002G>C) | |
4 | g.99622718G>T | CA357520268 | MTTP | c.2555G>T (p.Gly852Val) c.2306G>T (p.Gly769Val) c.2636G>T (p.Gly879Val) c.*1002G>T (n.*1002G>T) | |
4 | g.99622719T>A | CA440332954 | MTTP | c.2556T>A (p.Gly852=) c.2307T>A (p.Gly769=) c.2637T>A (p.Gly879=) c.*1003T>A (n.*1003T>A) | |
4 | g.99622719T>C | CA440332959 | MTTP | c.2556T>C (p.Gly852=) c.2307T>C (p.Gly769=) c.2637T>C (p.Gly879=) c.*1003T>C (n.*1003T>C) | |
4 | g.99622719T>G | CA440332956 | MTTP | c.2556T>G (p.Gly852=) c.2307T>G (p.Gly769=) c.2637T>G (p.Gly879=) c.*1003T>G (n.*1003T>G) | |
4 | g.99622720T>A | CA357520270 | MTTP | c.2557T>A (p.Tyr853Asn) c.2308T>A (p.Tyr770Asn) c.2638T>A (p.Tyr880Asn) c.*1004T>A (n.*1004T>A) | |
4 | g.99622720T>C | CA357520271 | MTTP | c.2557T>C (p.Tyr853His) c.2308T>C (p.Tyr770His) c.2638T>C (p.Tyr880His) c.*1004T>C (n.*1004T>C) | |
4 | g.99622720T>G | CA357520272 | MTTP | c.2557T>G (p.Tyr853Asp) c.2308T>G (p.Tyr770Asp) c.2638T>G (p.Tyr880Asp) c.*1004T>G (n.*1004T>G) | |
4 | g.99622721A>C | CA357520277 | MTTP | c.2558A>C (p.Tyr853Ser) c.2309A>C (p.Tyr770Ser) c.2639A>C (p.Tyr880Ser) c.*1005A>C (n.*1005A>C) | |
4 | g.99622721A>G | CA357520276 | MTTP | c.2558A>G (p.Tyr853Cys) c.2309A>G (p.Tyr770Cys) c.2639A>G (p.Tyr880Cys) c.*1005A>G (n.*1005A>G) | |
4 | g.99622721A>T | CA357520275 | MTTP | c.2558A>T (p.Tyr853Phe) c.2309A>T (p.Tyr770Phe) c.2639A>T (p.Tyr880Phe) c.*1005A>T (n.*1005A>T) | |
4 | g.99622722T>A | CA357520278 | MTTP | c.2559T>A (p.Tyr853Ter) c.2310T>A (p.Tyr770Ter) c.2640T>A (p.Tyr880Ter) c.*1006T>A (n.*1006T>A) | |
4 | g.99622722T>C | CA440332970 | MTTP | c.2559T>C (p.Tyr853=) c.2310T>C (p.Tyr770=) c.2640T>C (p.Tyr880=) c.*1006T>C (n.*1006T>C) | |
4 | g.99622722T>G | CA357520280 | MTTP | c.2559T>G (p.Tyr853Ter) c.2310T>G (p.Tyr770Ter) c.2640T>G (p.Tyr880Ter) c.*1006T>G (n.*1006T>G) | |
4 | g.99622723G>A | CA3022402 | MTTP | c.2560G>A (p.Val854Ile) c.2311G>A (p.Val771Ile) c.2641G>A (p.Val881Ile) c.*1007G>A (n.*1007G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
4 | g.99622723G>C | CA357520283 | MTTP | c.2560G>C (p.Val854Leu) c.2311G>C (p.Val771Leu) c.2641G>C (p.Val881Leu) c.*1007G>C (n.*1007G>C) | |
4 | g.99622723G= | CA1480087957 | MTTP | c.2560G= (p.Val854=) c.2311G= (p.Val771=) c.2641G= (p.Val881=) c.*1007G= (n.*1007G=) | |
4 | g.99622723G>T | CA357520284 | MTTP | c.2560G>T (p.Val854Phe) c.2311G>T (p.Val771Phe) c.2641G>T (p.Val881Phe) c.*1007G>T (n.*1007G>T) | |
4 | g.99622724T>A | CA357520286 | MTTP | c.2561T>A (p.Val854Asp) c.2312T>A (p.Val771Asp) c.2642T>A (p.Val881Asp) c.*1008T>A (n.*1008T>A) | |
4 | g.99622724T>C | CA3022403 | MTTP | c.2561T>C (p.Val854Ala) c.2312T>C (p.Val771Ala) c.2642T>C (p.Val881Ala) c.*1008T>C (n.*1008T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99622724T>G | CA357520288 | MTTP | c.2561T>G (p.Val854Gly) c.2312T>G (p.Val771Gly) c.2642T>G (p.Val881Gly) c.*1008T>G (n.*1008T>G) | |
4 | g.99622724T= | CA1480087958 | MTTP | c.2561T= (p.Val854=) c.2312T= (p.Val771=) c.2642T= (p.Val881=) c.*1008T= (n.*1008T=) | |
4 | g.99622725C>A | CA440332982 | MTTP | c.2562C>A (p.Val854=) c.2313C>A (p.Val771=) c.2643C>A (p.Val881=) c.*1009C>A (n.*1009C>A) | |
4 | g.99622725C>G | CA440332985 | MTTP | c.2562C>G (p.Val854=) c.2313C>G (p.Val771=) c.2643C>G (p.Val881=) c.*1009C>G (n.*1009C>G) | |
4 | g.99622725C>T | CA440332986 | MTTP | c.2562C>T (p.Val854=) c.2313C>T (p.Val771=) c.2643C>T (p.Val881=) c.*1009C>T (n.*1009C>T) | |
4 | g.99622726T>A | CA357520290 | MTTP | c.2563T>A (p.Ser855Thr) c.2314T>A (p.Ser772Thr) c.2644T>A (p.Ser882Thr) c.*1010T>A (n.*1010T>A) | |
4 | g.99622726T>C | CA357520291 | MTTP | c.2563T>C (p.Ser855Pro) c.2314T>C (p.Ser772Pro) c.2644T>C (p.Ser882Pro) c.*1010T>C (n.*1010T>C) | |
4 | g.99622726T>G | CA357520293 | MTTP | c.2563T>G (p.Ser855Ala) c.2314T>G (p.Ser772Ala) c.2644T>G (p.Ser882Ala) c.*1010T>G (n.*1010T>G) | |
4 | g.99622727C>A | CA357520298 | MTTP | c.2564C>A (p.Ser855Tyr) c.2315C>A (p.Ser772Tyr) c.2645C>A (p.Ser882Tyr) c.*1011C>A (n.*1011C>A) | |
4 | g.99622727C>G | CA357520297 | MTTP | c.2564C>G (p.Ser855Cys) c.2315C>G (p.Ser772Cys) c.2645C>G (p.Ser882Cys) c.*1011C>G (n.*1011C>G) | |
4 | g.99622727C>T | CA357520295 | MTTP | c.2564C>T (p.Ser855Phe) c.2315C>T (p.Ser772Phe) c.2645C>T (p.Ser882Phe) c.*1011C>T (n.*1011C>T) | |
4 | g.99622728T>A | CA440332992 | MTTP | c.2565T>A (p.Ser855=) c.2316T>A (p.Ser772=) c.2646T>A (p.Ser882=) c.*1012T>A (n.*1012T>A) | |
4 | g.99622728T>C | CA440332995 | MTTP | c.2565T>C (p.Ser855=) c.2316T>C (p.Ser772=) c.2646T>C (p.Ser882=) c.*1012T>C (n.*1012T>C) | |
4 | g.99622728T>G | CA440332998 | MTTP | c.2565T>G (p.Ser855=) c.2316T>G (p.Ser772=) c.2646T>G (p.Ser882=) c.*1012T>G (n.*1012T>G) | |
4 | g.99622729C>A | CA357520299 | MTTP | c.2566C>A (p.Gln856Lys) c.2317C>A (p.Gln773Lys) c.2647C>A (p.Gln883Lys) c.*1013C>A (n.*1013C>A) | |
4 | g.99622729C>G | CA357520301 | MTTP | c.2566C>G (p.Gln856Glu) c.2317C>G (p.Gln773Glu) c.2647C>G (p.Gln883Glu) c.*1013C>G (n.*1013C>G) | |
4 | g.99622729C>T | CA357520303 | MTTP | c.2566C>T (p.Gln856Ter) c.2317C>T (p.Gln773Ter) c.2647C>T (p.Gln883Ter) c.*1013C>T (n.*1013C>T) | |
4 | g.99622730A>C | CA357520305 | MTTP | c.2567A>C (p.Gln856Pro) c.2318A>C (p.Gln773Pro) c.2648A>C (p.Gln883Pro) c.*1014A>C (n.*1014A>C) | |
4 | g.99622730A>G | CA357520306 | MTTP | c.2567A>G (p.Gln856Arg) c.2318A>G (p.Gln773Arg) c.2648A>G (p.Gln883Arg) c.*1014A>G (n.*1014A>G) | |
4 | g.99622730A>T | CA357520307 | MTTP | c.2567A>T (p.Gln856Leu) c.2318A>T (p.Gln773Leu) c.2648A>T (p.Gln883Leu) c.*1014A>T (n.*1014A>T) | |
4 | g.99622731G>A | CA3022404 | MTTP | c.2568G>A (p.Gln856=) c.2319G>A (p.Gln773=) c.2649G>A (p.Gln883=) c.*1015G>A (n.*1015G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99622731G>C | CA357520310 | MTTP | c.2568G>C (p.Gln856His) c.2319G>C (p.Gln773His) c.2649G>C (p.Gln883His) c.*1015G>C (n.*1015G>C) | |
4 | g.99622731G= | CA1480087959 | MTTP | c.2568G= (p.Gln856=) c.2319G= (p.Gln773=) c.2649G= (p.Gln883=) c.*1015G= (n.*1015G=) | |
4 | g.99622731G>T | CA357520312 | MTTP | c.2568G>T (p.Gln856His) c.2319G>T (p.Gln773His) c.2649G>T (p.Gln883His) c.*1015G>T (n.*1015G>T) | |
4 | g.99622732A= | CA1480087960 | MTTP | c.2569A= (p.Lys857=) c.2320A= (p.Lys774=) c.2650A= (p.Lys884=) c.*1016A= (n.*1016A=) | |
4 | g.99622732A>C | CA3022406 | MTTP | c.2569A>C (p.Lys857Gln) c.2320A>C (p.Lys774Gln) c.2650A>C (p.Lys884Gln) c.*1016A>C (n.*1016A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.99622732A>G | CA3022405 | MTTP | c.2569A>G (p.Lys857Glu) c.2320A>G (p.Lys774Glu) c.2650A>G (p.Lys884Glu) c.*1016A>G (n.*1016A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.99622732A>T | CA357520314 | MTTP | c.2569A>T (p.Lys857Ter) c.2320A>T (p.Lys774Ter) c.2650A>T (p.Lys884Ter) c.*1016A>T (n.*1016A>T) | |
4 | g.99622733A>C | CA357520319 | MTTP | c.2570A>C (p.Lys857Thr) c.2321A>C (p.Lys774Thr) c.2651A>C (p.Lys884Thr) c.*1017A>C (n.*1017A>C) | |
4 | g.99622733A>G | CA357520318 | MTTP | c.2570A>G (p.Lys857Arg) c.2321A>G (p.Lys774Arg) c.2651A>G (p.Lys884Arg) c.*1017A>G (n.*1017A>G) | |
4 | g.99622733A>T | CA357520316 | MTTP | c.2570A>T (p.Lys857Ile) c.2321A>T (p.Lys774Ile) c.2651A>T (p.Lys884Ile) c.*1017A>T (n.*1017A>T) | |
4 | g.99622734A>C | CA357520321 | MTTP | c.2571A>C (p.Lys857Asn) c.2322A>C (p.Lys774Asn) c.2652A>C (p.Lys884Asn) c.*1018A>C (n.*1018A>C) | |
4 | g.99622734A>G | CA440333020 | MTTP | c.2571A>G (p.Lys857=) c.2322A>G (p.Lys774=) c.2652A>G (p.Lys884=) c.*1018A>G (n.*1018A>G) | |
4 | g.99622734A>T | CA357520322 | MTTP | c.2571A>T (p.Lys857Asn) c.2322A>T (p.Lys774Asn) c.2652A>T (p.Lys884Asn) c.*1018A>T (n.*1018A>T) |