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.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.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) | |
| 4 | g.99622735A>C | CA440333023 | MTTP | c.2572A>C (p.Arg858=) c.2323A>C (p.Arg775=) c.2653A>C (p.Arg885=) c.*1019A>C (n.*1019A>C) | ClinVar |
| 4 | g.99622735A>G | CA357520324 | MTTP | c.2572A>G (p.Arg858Gly) c.2323A>G (p.Arg775Gly) c.2653A>G (p.Arg885Gly) c.*1019A>G (n.*1019A>G) | |
| 4 | g.99622735A>T | CA357520325 | MTTP | c.2572A>T (p.Arg858Ter) c.2323A>T (p.Arg775Ter) c.2653A>T (p.Arg885Ter) c.*1019A>T (n.*1019A>T) | |
| 4 | g.99622736G>A | CA357520327 | MTTP | c.2573G>A (p.Arg858Lys) c.2324G>A (p.Arg775Lys) c.2654G>A (p.Arg885Lys) c.*1020G>A (n.*1020G>A) | |
| 4 | g.99622736G>C | CA357520329 | MTTP | c.2573G>C (p.Arg858Thr) c.2324G>C (p.Arg775Thr) c.2654G>C (p.Arg885Thr) c.*1020G>C (n.*1020G>C) | dbSNP gnomAD v4 |
| 4 | g.99622736G= | CA1480087961 | MTTP | c.2573G= (p.Arg858=) c.2324G= (p.Arg775=) c.2654G= (p.Arg885=) c.*1020G= (n.*1020G=) | |
| 4 | g.99622736G>T | CA357520331 | MTTP | c.2573G>T (p.Arg858Ile) c.2324G>T (p.Arg775Ile) c.2654G>T (p.Arg885Ile) c.*1020G>T (n.*1020G>T) | |
| 4 | g.99622737A>C | CA357520332 | MTTP | c.2574A>C (p.Arg858Ser) c.2325A>C (p.Arg775Ser) c.2655A>C (p.Arg885Ser) c.*1021A>C (n.*1021A>C) | |
| 4 | g.99622737A>G | CA440333026 | MTTP | c.2574A>G (p.Arg858=) c.2325A>G (p.Arg775=) c.2655A>G (p.Arg885=) c.*1021A>G (n.*1021A>G) | |
| 4 | g.99622737A>T | CA357520334 | MTTP | c.2574A>T (p.Arg858Ser) c.2325A>T (p.Arg775Ser) c.2655A>T (p.Arg885Ser) c.*1021A>T (n.*1021A>T) | |
| 4 | g.99622740del | CA913103298 | MTTP | c.2577del (p.Glu860LysfsTer4) c.2328del (p.Glu777LysfsTer4) c.2658del (p.Glu887LysfsTer4) c.*1024del (n.*1024del) | |
| 4 | g.99622738A>C | CA357520336 | MTTP | c.2575A>C (p.Lys859Gln) c.2326A>C (p.Lys776Gln) c.2656A>C (p.Lys886Gln) c.*1022A>C (n.*1022A>C) | |
| 4 | g.99622738A>G | CA357520338 | MTTP | c.2575A>G (p.Lys859Glu) c.2326A>G (p.Lys776Glu) c.2656A>G (p.Lys886Glu) c.*1022A>G (n.*1022A>G) | |
| 4 | g.99622738A>T | CA357520339 | MTTP | c.2575A>T (p.Lys859Ter) c.2326A>T (p.Lys776Ter) c.2656A>T (p.Lys886Ter) c.*1022A>T (n.*1022A>T) | |
| 4 | g.99622738_99622741delinsAAAG | CA1480087962 | MTTP | c.2575_2578delinsAAAG (p.Lys859=) c.2326_2329delinsAAAG (p.Lys776=) c.2656_2659delinsAAAG (p.Lys886=) c.*1022_*1025delinsAAAG (n.*1022_*1025delinsAAAG) | |
| 4 | g.99622739A>C | CA357520340 | MTTP | c.2576A>C (p.Lys859Thr) c.2327A>C (p.Lys776Thr) c.2657A>C (p.Lys886Thr) c.*1023A>C (n.*1023A>C) | |
| 4 | g.99622739A>G | CA357520342 | MTTP | c.2576A>G (p.Lys859Arg) c.2327A>G (p.Lys776Arg) c.2657A>G (p.Lys886Arg) c.*1023A>G (n.*1023A>G) | gnomAD v4 |
| 4 | g.99622739A>T | CA357520344 | MTTP | c.2576A>T (p.Lys859Ile) c.2327A>T (p.Lys776Ile) c.2657A>T (p.Lys886Ile) c.*1023A>T (n.*1023A>T) | |
| 4 | g.99622741_99622743del | CA553568510 | MTTP | c.2578_2580del (p.Glu860del) c.2329_2331del (p.Glu777del) c.2659_2661del (p.Glu887del) c.*1025_*1027del (n.*1025_*1027del) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.99622740A= | CA1480087963 | MTTP | c.2577A= (p.Lys859=) c.2328A= (p.Lys776=) c.2658A= (p.Lys886=) c.*1024A= (n.*1024A=) | |
| 4 | g.99622740A>C | CA357520345 | MTTP | c.2577A>C (p.Lys859Asn) c.2328A>C (p.Lys776Asn) c.2658A>C (p.Lys886Asn) c.*1024A>C (n.*1024A>C) | |
| 4 | g.99622740A>G | CA440333031 | MTTP | c.2577A>G (p.Lys859=) c.2328A>G (p.Lys776=) c.2658A>G (p.Lys886=) c.*1024A>G (n.*1024A>G) | |
| 4 | g.99622740A>T | CA357520346 | MTTP | c.2577A>T (p.Lys859Asn) c.2328A>T (p.Lys776Asn) c.2658A>T (p.Lys886Asn) c.*1024A>T (n.*1024A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99622741G>A | CA357520348 | MTTP | c.2578G>A (p.Glu860Lys) c.2329G>A (p.Glu777Lys) c.2659G>A (p.Glu887Lys) c.*1025G>A (n.*1025G>A) | |
| 4 | g.99622741G>C | CA357520349 | MTTP | c.2578G>C (p.Glu860Gln) c.2329G>C (p.Glu777Gln) c.2659G>C (p.Glu887Gln) c.*1025G>C (n.*1025G>C) | |
| 4 | g.99622741G= | CA1480087964 | MTTP | c.2578G= (p.Glu860=) c.2329G= (p.Glu777=) c.2659G= (p.Glu887=) c.*1025G= (n.*1025G=) | |
| 4 | g.99622741G>T | CA357520351 | MTTP | c.2578G>T (p.Glu860Ter) c.2329G>T (p.Glu777Ter) c.2659G>T (p.Glu887Ter) c.*1025G>T (n.*1025G>T) | ClinVar dbSNP COSMIC |
| 4 | g.99622742A>C | CA357520352 | MTTP | c.2579A>C (p.Glu860Ala) c.2330A>C (p.Glu777Ala) c.2660A>C (p.Glu887Ala) c.*1026A>C (n.*1026A>C) | gnomAD v4 |
| 4 | g.99622742A>G | CA357520354 | MTTP | c.2579A>G (p.Glu860Gly) c.2330A>G (p.Glu777Gly) c.2660A>G (p.Glu887Gly) c.*1026A>G (n.*1026A>G) | |
| 4 | g.99622742A>T | CA357520355 | MTTP | c.2579A>T (p.Glu860Val) c.2330A>T (p.Glu777Val) c.2660A>T (p.Glu887Val) c.*1026A>T (n.*1026A>T) | |
| 4 | g.99622744dup | CA2671535542 | MTTP | c.2581dup (p.Ser861LysfsTer7) c.2332dup (p.Ser778LysfsTer7) c.2662dup (p.Ser888LysfsTer7) c.*1028dup (n.*1028dup) | gnomAD v4 |
| 4 | g.99622743A>C | CA357520357 | MTTP | c.2580A>C (p.Glu860Asp) c.2331A>C (p.Glu777Asp) c.2661A>C (p.Glu887Asp) c.*1027A>C (n.*1027A>C) | |
| 4 | g.99622743A>G | CA440333044 | MTTP | c.2580A>G (p.Glu860=) c.2331A>G (p.Glu777=) c.2661A>G (p.Glu887=) c.*1027A>G (n.*1027A>G) | |
| 4 | g.99622743A>T | CA357520359 | MTTP | c.2580A>T (p.Glu860Asp) c.2331A>T (p.Glu777Asp) c.2661A>T (p.Glu887Asp) c.*1027A>T (n.*1027A>T) | |
| 4 | g.99622744A>C | CA357520360 | MTTP | c.2581A>C (p.Ser861Arg) c.2332A>C (p.Ser778Arg) c.2662A>C (p.Ser888Arg) c.*1028A>C (n.*1028A>C) | |
| 4 | g.99622744A>G | CA357520362 | MTTP | c.2581A>G (p.Ser861Gly) c.2332A>G (p.Ser778Gly) c.2662A>G (p.Ser888Gly) c.*1028A>G (n.*1028A>G) | |
| 4 | g.99622744A>T | CA357520363 | MTTP | c.2581A>T (p.Ser861Cys) c.2332A>T (p.Ser778Cys) c.2662A>T (p.Ser888Cys) c.*1028A>T (n.*1028A>T) | |
| 4 | g.99622745G>A | CA3022407 | MTTP | c.2582G>A (p.Ser861Asn) c.2333G>A (p.Ser778Asn) c.2663G>A (p.Ser888Asn) c.*1029G>A (n.*1029G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99622745G>C | CA357520370 | MTTP | c.2582G>C (p.Ser861Thr) c.2333G>C (p.Ser778Thr) c.2663G>C (p.Ser888Thr) c.*1029G>C (n.*1029G>C) | |
| 4 | g.99622745G= | CA1480087965 | MTTP | c.2582G= (p.Ser861=) c.2333G= (p.Ser778=) c.2663G= (p.Ser888=) c.*1029G= (n.*1029G=) | |
| 4 | g.99622745G>T | CA357520366 | MTTP | c.2582G>T (p.Ser861Ile) c.2333G>T (p.Ser778Ile) c.2663G>T (p.Ser888Ile) c.*1029G>T (n.*1029G>T) | |
| 4 | g.99622746C>A | CA357520372 | MTTP | c.2583C>A (p.Ser861Arg) c.2334C>A (p.Ser778Arg) c.2664C>A (p.Ser888Arg) c.*1030C>A (n.*1030C>A) | gnomAD v4 |
| 4 | g.99622746C= | CA1480087966 | MTTP | c.2583C= (p.Ser861=) c.2334C= (p.Ser778=) c.2664C= (p.Ser888=) c.*1030C= (n.*1030C=) | |
| 4 | g.99622746C>G | CA357520373 | MTTP | c.2583C>G (p.Ser861Arg) c.2334C>G (p.Ser778Arg) c.2664C>G (p.Ser888Arg) c.*1030C>G (n.*1030C>G) | |
| 4 | g.99622746C>T | CA3022408 | MTTP | c.2583C>T (p.Ser861=) c.2334C>T (p.Ser778=) c.2664C>T (p.Ser888=) c.*1030C>T (n.*1030C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.99622747G>A | CA3022409 | MTTP | c.2584G>A (p.Val862Ile) c.2335G>A (p.Val779Ile) c.2665G>A (p.Val889Ile) c.*1031G>A (n.*1031G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.99622747G>C | CA357520376 | MTTP | c.2584G>C (p.Val862Leu) c.2335G>C (p.Val779Leu) c.2665G>C (p.Val889Leu) c.*1031G>C (n.*1031G>C) | gnomAD v4 |
| 4 | g.99622747G= | CA1480087967 | MTTP | c.2584G= (p.Val862=) c.2335G= (p.Val779=) c.2665G= (p.Val889=) c.*1031G= (n.*1031G=) | |
| 4 | g.99622747G>T | CA102652360 | MTTP | c.2584G>T (p.Val862Leu) c.2335G>T (p.Val779Leu) c.2665G>T (p.Val889Leu) c.*1031G>T (n.*1031G>T) | dbSNP |
| 4 | g.99622748T>A | CA357520378 | MTTP | c.2585T>A (p.Val862Glu) c.2336T>A (p.Val779Glu) c.2666T>A (p.Val889Glu) c.*1032T>A (n.*1032T>A) | |
| 4 | g.99622748T>C | CA357520379 | MTTP | c.2585T>C (p.Val862Ala) c.2336T>C (p.Val779Ala) c.2666T>C (p.Val889Ala) c.*1032T>C (n.*1032T>C) | |
| 4 | g.99622748T>G | CA357520381 | MTTP | c.2585T>G (p.Val862Gly) c.2336T>G (p.Val779Gly) c.2666T>G (p.Val889Gly) c.*1032T>G (n.*1032T>G) | |
| 4 | g.99622749_99622772del | CA645520133 | MTTP | c.2586_2609del (p.Leu863_Leu870del) c.2337_2360del (p.Leu780_Leu787del) c.2667_2690del (p.Leu890_Leu897del) c.*1033_*1056del (n.*1033_*1056del) | COSMIC |
| 4 | g.99622749A>C | CA440333060 | MTTP | c.2586A>C (p.Val862=) c.2337A>C (p.Val779=) c.2667A>C (p.Val889=) c.*1033A>C (n.*1033A>C) | |
| 4 | g.99622749A>G | CA440333061 | MTTP | c.2586A>G (p.Val862=) c.2337A>G (p.Val779=) c.2667A>G (p.Val889=) c.*1033A>G (n.*1033A>G) | ClinVar |
| 4 | g.99622749A>T | CA440333058 | MTTP | c.2586A>T (p.Val862=) c.2337A>T (p.Val779=) c.2667A>T (p.Val889=) c.*1033A>T (n.*1033A>T) | |
| 4 | g.99622750T>A | CA357520382 | MTTP | c.2587T>A (p.Leu863Ile) c.2338T>A (p.Leu780Ile) c.2668T>A (p.Leu890Ile) c.*1034T>A (n.*1034T>A) | |
| 4 | g.99622750T>C | CA440333063 | MTTP | c.2587T>C (p.Leu863=) c.2338T>C (p.Leu780=) c.2668T>C (p.Leu890=) c.*1034T>C (n.*1034T>C) | |
| 4 | g.99622750T>G | CA357520384 | MTTP | c.2587T>G (p.Leu863Val) c.2338T>G (p.Leu780Val) c.2668T>G (p.Leu890Val) c.*1034T>G (n.*1034T>G) | |
| 4 | g.99622751T>A | CA357520386 | MTTP | c.2588T>A (p.Leu863Ter) c.2339T>A (p.Leu780Ter) c.2669T>A (p.Leu890Ter) c.*1035T>A (n.*1035T>A) | |
| 4 | g.99622751T>C | CA357520387 | MTTP | c.2588T>C (p.Leu863Ser) c.2339T>C (p.Leu780Ser) c.2669T>C (p.Leu890Ser) c.*1035T>C (n.*1035T>C) | |
| 4 | g.99622751T>G | CA357520388 | MTTP | c.2588T>G (p.Leu863Ter) c.2339T>G (p.Leu780Ter) c.2669T>G (p.Leu890Ter) c.*1035T>G (n.*1035T>G) | |
| 4 | g.99622752A>C | CA357520390 | MTTP | c.2589A>C (p.Leu863Phe) c.2340A>C (p.Leu780Phe) c.2670A>C (p.Leu890Phe) c.*1036A>C (n.*1036A>C) | |
| 4 | g.99622752A>G | CA440333072 | MTTP | c.2589A>G (p.Leu863=) c.2340A>G (p.Leu780=) c.2670A>G (p.Leu890=) c.*1036A>G (n.*1036A>G) | |
| 4 | g.99622752A>T | CA357520392 | MTTP | c.2589A>T (p.Leu863Phe) c.2340A>T (p.Leu780Phe) c.2670A>T (p.Leu890Phe) c.*1036A>T (n.*1036A>T) | |
| 4 | g.99622754_99622756del | CA2762808581 | MTTP | c.2591_2593del (p.Ala864del) c.2342_2344del (p.Ala781del) c.2672_2674del (p.Ala891del) c.*1038_*1040del (n.*1038_*1040del) | |
| 4 | g.99622753G>A | CA357520393 | MTTP | c.2590G>A (p.Ala864Thr) c.2341G>A (p.Ala781Thr) c.2671G>A (p.Ala891Thr) c.*1037G>A (n.*1037G>A) | gnomAD v4 |
| 4 | g.99622753G>C | CA3022410 | MTTP | c.2590G>C (p.Ala864Pro) c.2341G>C (p.Ala781Pro) c.2671G>C (p.Ala891Pro) c.*1037G>C (n.*1037G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99622753G= | CA1480087968 | MTTP | c.2590G= (p.Ala864=) c.2341G= (p.Ala781=) c.2671G= (p.Ala891=) c.*1037G= (n.*1037G=) | |
| 4 | g.99622753G>T | CA357520395 | MTTP | c.2590G>T (p.Ala864Ser) c.2341G>T (p.Ala781Ser) c.2671G>T (p.Ala891Ser) c.*1037G>T (n.*1037G>T) | |
| 4 | g.99622754C>A | CA357520397 | MTTP | c.2591C>A (p.Ala864Glu) c.2342C>A (p.Ala781Glu) c.2672C>A (p.Ala891Glu) c.*1038C>A (n.*1038C>A) | |
| 4 | g.99622754C= | CA1480087969 | MTTP | c.2591C= (p.Ala864=) c.2342C= (p.Ala781=) c.2672C= (p.Ala891=) c.*1038C= (n.*1038C=) | |
| 4 | g.99622754C>G | CA357520399 | MTTP | c.2591C>G (p.Ala864Gly) c.2342C>G (p.Ala781Gly) c.2672C>G (p.Ala891Gly) c.*1038C>G (n.*1038C>G) | |
| 4 | g.99622754C>T | CA357520400 | MTTP | c.2591C>T (p.Ala864Val) c.2342C>T (p.Ala781Val) c.2672C>T (p.Ala891Val) c.*1038C>T (n.*1038C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.99622755A= | CA1480087970 | MTTP | c.2592A= (p.Ala864=) c.2343A= (p.Ala781=) c.2673A= (p.Ala891=) c.*1039A= (n.*1039A=) | |
| 4 | g.99622755A>C | CA440333085 | MTTP | c.2592A>C (p.Ala864=) c.2343A>C (p.Ala781=) c.2673A>C (p.Ala891=) c.*1039A>C (n.*1039A>C) | |
| 4 | g.99622755A>G | CA102652362 | MTTP | c.2592A>G (p.Ala864=) c.2343A>G (p.Ala781=) c.2673A>G (p.Ala891=) c.*1039A>G (n.*1039A>G) | dbSNP |
| 4 | g.99622755A>T | CA440333082 | MTTP | c.2592A>T (p.Ala864=) c.2343A>T (p.Ala781=) c.2673A>T (p.Ala891=) c.*1039A>T (n.*1039A>T) | |
| 4 | g.99622756G>A | CA357520402 | MTTP | c.2593G>A (p.Gly865Arg) c.2344G>A (p.Gly782Arg) c.2674G>A (p.Gly892Arg) c.*1040G>A (n.*1040G>A) | COSMIC |
| 4 | g.99622756G>C | CA357520404 | MTTP | c.2593G>C (p.Gly865Arg) c.2344G>C (p.Gly782Arg) c.2674G>C (p.Gly892Arg) c.*1040G>C (n.*1040G>C) | |
| 4 | g.99622756G= | CA1480087971 | MTTP | c.2593G= (p.Gly865=) c.2344G= (p.Gly782=) c.2674G= (p.Gly892=) c.*1040G= (n.*1040G=) | |
| 4 | g.99622756G>T | CA123825 | MTTP | c.2593G>T (p.Gly865Ter) c.2344G>T (p.Gly782Ter) c.2674G>T (p.Gly892Ter) c.*1040G>T (n.*1040G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99622757G>A | CA357520407 | MTTP | c.2594G>A (p.Gly865Glu) c.2345G>A (p.Gly782Glu) c.2675G>A (p.Gly892Glu) c.*1041G>A (n.*1041G>A) | gnomAD v4 |
| 4 | g.99622757G>C | CA357520410 | MTTP | c.2594G>C (p.Gly865Ala) c.2345G>C (p.Gly782Ala) c.2675G>C (p.Gly892Ala) c.*1041G>C (n.*1041G>C) | |
| 4 | g.99622757G>T | CA357520411 | MTTP | c.2594G>T (p.Gly865Val) c.2345G>T (p.Gly782Val) c.2675G>T (p.Gly892Val) c.*1041G>T (n.*1041G>T) | |
| 4 | g.99622758A>C | CA440333095 | MTTP | c.2595A>C (p.Gly865=) c.2346A>C (p.Gly782=) c.2676A>C (p.Gly892=) c.*1042A>C (n.*1042A>C) | |
| 4 | g.99622758A>G | CA440333097 | MTTP | c.2595A>G (p.Gly865=) c.2346A>G (p.Gly782=) c.2676A>G (p.Gly892=) c.*1042A>G (n.*1042A>G) | |
| 4 | g.99622758A>T | CA440333099 | MTTP | c.2595A>T (p.Gly865=) c.2346A>T (p.Gly782=) c.2676A>T (p.Gly892=) c.*1042A>T (n.*1042A>T) | ClinVar |
| 4 | g.99622759T>A | CA357520419 | MTTP | c.2596T>A (p.Cys866Ser) c.2347T>A (p.Cys783Ser) c.2677T>A (p.Cys893Ser) c.*1043T>A (n.*1043T>A) | |
| 4 | g.99622759T>C | CA357520417 | MTTP | c.2596T>C (p.Cys866Arg) c.2347T>C (p.Cys783Arg) c.2677T>C (p.Cys893Arg) c.*1043T>C (n.*1043T>C) | |
| 4 | g.99622759T>G | CA357520415 | MTTP | c.2596T>G (p.Cys866Gly) c.2347T>G (p.Cys783Gly) c.2677T>G (p.Cys893Gly) c.*1043T>G (n.*1043T>G) | |
| 4 | g.99622760G>A | CA357520421 | MTTP | c.2597G>A (p.Cys866Tyr) c.2348G>A (p.Cys783Tyr) c.2678G>A (p.Cys893Tyr) c.*1044G>A (n.*1044G>A) | gnomAD v4 |
| 4 | g.99622760G>C | CA357520422 | MTTP | c.2597G>C (p.Cys866Ser) c.2348G>C (p.Cys783Ser) c.2678G>C (p.Cys893Ser) c.*1044G>C (n.*1044G>C) | |
| 4 | g.99622760G>T | CA357520425 | MTTP | c.2597G>T (p.Cys866Phe) c.2348G>T (p.Cys783Phe) c.2678G>T (p.Cys893Phe) c.*1044G>T (n.*1044G>T) | |
| 4 | g.99622761T>A | CA357520426 | MTTP | c.2598T>A (p.Cys866Ter) c.2349T>A (p.Cys783Ter) c.2679T>A (p.Cys893Ter) c.*1045T>A (n.*1045T>A) | |
| 4 | g.99622761T>C | CA440333114 | MTTP | c.2598T>C (p.Cys866=) c.2349T>C (p.Cys783=) c.2679T>C (p.Cys893=) c.*1045T>C (n.*1045T>C) | |
| 4 | g.99622761T>G | CA357520427 | MTTP | c.2598T>G (p.Cys866Trp) c.2349T>G (p.Cys783Trp) c.2679T>G (p.Cys893Trp) c.*1045T>G (n.*1045T>G) | |
| 4 | g.99622762G>A | CA357520429 | MTTP | c.2599G>A (p.Glu867Lys) c.2350G>A (p.Glu784Lys) c.2680G>A (p.Glu894Lys) c.*1046G>A (n.*1046G>A) | |
| 4 | g.99622762G>C | CA357520430 | MTTP | c.2599G>C (p.Glu867Gln) c.2350G>C (p.Glu784Gln) c.2680G>C (p.Glu894Gln) c.*1046G>C (n.*1046G>C) | dbSNP |
| 4 | g.99622762G= | CA1480087972 | MTTP | c.2599G= (p.Glu867=) c.2350G= (p.Glu784=) c.2680G= (p.Glu894=) c.*1046G= (n.*1046G=) | |
| 4 | g.99622762G>T | CA357520432 | MTTP | c.2599G>T (p.Glu867Ter) c.2350G>T (p.Glu784Ter) c.2680G>T (p.Glu894Ter) c.*1046G>T (n.*1046G>T) | |
| 4 | g.99622763A>C | CA357520433 | MTTP | c.2600A>C (p.Glu867Ala) c.2351A>C (p.Glu784Ala) c.2681A>C (p.Glu894Ala) c.*1047A>C (n.*1047A>C) | |
| 4 | g.99622763A>G | CA357520435 | MTTP | c.2600A>G (p.Glu867Gly) c.2351A>G (p.Glu784Gly) c.2681A>G (p.Glu894Gly) c.*1047A>G (n.*1047A>G) | |
| 4 | g.99622763A>T | CA357520434 | MTTP | c.2600A>T (p.Glu867Val) c.2351A>T (p.Glu784Val) c.2681A>T (p.Glu894Val) c.*1047A>T (n.*1047A>T) | |
| 4 | g.99622764A>C | CA357520437 | MTTP | c.2601A>C (p.Glu867Asp) c.2352A>C (p.Glu784Asp) c.2682A>C (p.Glu894Asp) c.*1048A>C (n.*1048A>C) | |
| 4 | g.99622764A>G | CA440333125 | MTTP | c.2601A>G (p.Glu867=) c.2352A>G (p.Glu784=) c.2682A>G (p.Glu894=) c.*1048A>G (n.*1048A>G) | gnomAD v4 |
| 4 | g.99622764A>T | CA357520439 | MTTP | c.2601A>T (p.Glu867Asp) c.2352A>T (p.Glu784Asp) c.2682A>T (p.Glu894Asp) c.*1048A>T (n.*1048A>T) | |
| 4 | g.99622765T>A | CA357520441 | MTTP | c.2602T>A (p.Phe868Ile) c.2353T>A (p.Phe785Ile) c.2683T>A (p.Phe895Ile) c.*1049T>A (n.*1049T>A) | |
| 4 | g.99622765T>C | CA357520442 | MTTP | c.2602T>C (p.Phe868Leu) c.2353T>C (p.Phe785Leu) c.2683T>C (p.Phe895Leu) c.*1049T>C (n.*1049T>C) | |
| 4 | g.99622765T>G | CA357520443 | MTTP | c.2602T>G (p.Phe868Val) c.2353T>G (p.Phe785Val) c.2683T>G (p.Phe895Val) c.*1049T>G (n.*1049T>G) | |
| 4 | g.99622766T>A | CA357520445 | MTTP | c.2603T>A (p.Phe868Tyr) c.2354T>A (p.Phe785Tyr) c.2684T>A (p.Phe895Tyr) c.*1050T>A (n.*1050T>A) | |
| 4 | g.99622766T>C | CA357520448 | MTTP | c.2603T>C (p.Phe868Ser) c.2354T>C (p.Phe785Ser) c.2684T>C (p.Phe895Ser) c.*1050T>C (n.*1050T>C) | |
| 4 | g.99622766T>G | CA357520447 | MTTP | c.2603T>G (p.Phe868Cys) c.2354T>G (p.Phe785Cys) c.2684T>G (p.Phe895Cys) c.*1050T>G (n.*1050T>G) | |
| 4 | g.99622767C>A | CA357520450 | MTTP | c.2604C>A (p.Phe868Leu) c.2355C>A (p.Phe785Leu) c.2685C>A (p.Phe895Leu) c.*1051C>A (n.*1051C>A) | |
| 4 | g.99622767C>G | CA357520453 | MTTP | c.2604C>G (p.Phe868Leu) c.2355C>G (p.Phe785Leu) c.2685C>G (p.Phe895Leu) c.*1051C>G (n.*1051C>G) | |
| 4 | g.99622767C>T | CA440333143 | MTTP | c.2604C>T (p.Phe868=) c.2355C>T (p.Phe785=) c.2685C>T (p.Phe895=) c.*1051C>T (n.*1051C>T) |