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.99618964_99619033del | CA2544456484 | MTTP | c.2218-10_2277del c.1969-10_2028del c.2299-10_2358del c.*665-10_*724del | |
| 4 | g.99618994A>C | CA440331333 | MTTP | c.2238A>C (p.Gly746=) c.1989A>C (p.Gly663=) c.2319A>C (p.Gly773=) c.*685A>C (n.*685A>C) | ClinVar dbSNP |
| 4 | g.99618994A>G | CA440331334 | MTTP | c.2238A>G (p.Gly746=) c.1989A>G (p.Gly663=) c.2319A>G (p.Gly773=) c.*685A>G (n.*685A>G) | gnomAD v4 |
| 4 | g.99618994A>T | CA440331335 | MTTP | c.2238A>T (p.Gly746=) c.1989A>T (p.Gly663=) c.2319A>T (p.Gly773=) c.*685A>T (n.*685A>T) | |
| 4 | g.99618995C>A | CA357518153 | MTTP | c.2239C>A (p.Leu747Ile) c.1990C>A (p.Leu664Ile) c.2320C>A (p.Leu774Ile) c.*686C>A (n.*686C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.99618995C= | CA1480086473 | MTTP | c.2239C= (p.Leu747=) c.1990C= (p.Leu664=) c.2320C= (p.Leu774=) c.*686C= (n.*686C=) | |
| 4 | g.99618995C>G | CA357518154 | MTTP | c.2239C>G (p.Leu747Val) c.1990C>G (p.Leu664Val) c.2320C>G (p.Leu774Val) c.*686C>G (n.*686C>G) | |
| 4 | g.99618995C>T | CA440331336 | MTTP | c.2239C>T (p.Leu747=) c.1990C>T (p.Leu664=) c.2320C>T (p.Leu774=) c.*686C>T (n.*686C>T) | gnomAD v4 |
| 4 | g.99618996T>A | CA357518155 | MTTP | c.2240T>A (p.Leu747Gln) c.1991T>A (p.Leu664Gln) c.2321T>A (p.Leu774Gln) c.*687T>A (n.*687T>A) | |
| 4 | g.99618996T>C | CA357518157 | MTTP | c.2240T>C (p.Leu747Pro) c.1991T>C (p.Leu664Pro) c.2321T>C (p.Leu774Pro) c.*687T>C (n.*687T>C) | |
| 4 | g.99618996T>G | CA357518158 | MTTP | c.2240T>G (p.Leu747Arg) c.1991T>G (p.Leu664Arg) c.2321T>G (p.Leu774Arg) c.*687T>G (n.*687T>G) | gnomAD v4 |
| 4 | g.99618996dup | CA2578152491 | MTTP | c.2240dup (p.Ala749SerfsTer12) c.1991dup (p.Ala666SerfsTer12) c.2321dup (p.Ala776SerfsTer12) c.*687dup (n.*687dup) | |
| 4 | g.99618997A>C | CA440331337 | MTTP | c.2241A>C (p.Leu747=) c.1992A>C (p.Leu664=) c.2322A>C (p.Leu774=) c.*688A>C (n.*688A>C) | |
| 4 | g.99618997A>G | CA440331339 | MTTP | c.2241A>G (p.Leu747=) c.1992A>G (p.Leu664=) c.2322A>G (p.Leu774=) c.*688A>G (n.*688A>G) | |
| 4 | g.99618997A>T | CA440331338 | MTTP | c.2241A>T (p.Leu747=) c.1992A>T (p.Leu664=) c.2322A>T (p.Leu774=) c.*688A>T (n.*688A>T) | |
| 4 | g.99618998A>C | CA357518160 | MTTP | c.2242A>C (p.Lys748Gln) c.1993A>C (p.Lys665Gln) c.2323A>C (p.Lys775Gln) c.*689A>C (n.*689A>C) | |
| 4 | g.99618998A>G | CA357518162 | MTTP | c.2242A>G (p.Lys748Glu) c.1993A>G (p.Lys665Glu) c.2323A>G (p.Lys775Glu) c.*689A>G (n.*689A>G) | |
| 4 | g.99618998A>T | CA357518163 | MTTP | c.2242A>T (p.Lys748Ter) c.1993A>T (p.Lys665Ter) c.2323A>T (p.Lys775Ter) c.*689A>T (n.*689A>T) | |
| 4 | g.99618999A>C | CA357518165 | MTTP | c.2243A>C (p.Lys748Thr) c.1994A>C (p.Lys665Thr) c.2324A>C (p.Lys775Thr) c.*690A>C (n.*690A>C) | |
| 4 | g.99618999A>G | CA357518167 | MTTP | c.2243A>G (p.Lys748Arg) c.1994A>G (p.Lys665Arg) c.2324A>G (p.Lys775Arg) c.*690A>G (n.*690A>G) | |
| 4 | g.99618999A>T | CA357518169 | MTTP | c.2243A>T (p.Lys748Ile) c.1994A>T (p.Lys665Ile) c.2324A>T (p.Lys775Ile) c.*690A>T (n.*690A>T) | |
| 4 | g.99619000A>C | CA357518173 | MTTP | c.2244A>C (p.Lys748Asn) c.1995A>C (p.Lys665Asn) c.2325A>C (p.Lys775Asn) c.*691A>C (n.*691A>C) | gnomAD v4 |
| 4 | g.99619000A>G | CA440331340 | MTTP | c.2244A>G (p.Lys748=) c.1995A>G (p.Lys665=) c.2325A>G (p.Lys775=) c.*691A>G (n.*691A>G) | |
| 4 | g.99619000A>T | CA357518172 | MTTP | c.2244A>T (p.Lys748Asn) c.1995A>T (p.Lys665Asn) c.2325A>T (p.Lys775Asn) c.*691A>T (n.*691A>T) | |
| 4 | g.99619001G>A | CA357518175 | MTTP | c.2245G>A (p.Ala749Thr) c.1996G>A (p.Ala666Thr) c.2326G>A (p.Ala776Thr) c.*692G>A (n.*692G>A) | dbSNP |
| 4 | g.99619001G>C | CA357518178 | MTTP | c.2245G>C (p.Ala749Pro) c.1996G>C (p.Ala666Pro) c.2326G>C (p.Ala776Pro) c.*692G>C (n.*692G>C) | |
| 4 | g.99619001G= | CA1480086474 | MTTP | c.2245G= (p.Ala749=) c.1996G= (p.Ala666=) c.2326G= (p.Ala776=) c.*692G= (n.*692G=) | |
| 4 | g.99619001G>T | CA357518176 | MTTP | c.2245G>T (p.Ala749Ser) c.1996G>T (p.Ala666Ser) c.2326G>T (p.Ala776Ser) c.*692G>T (n.*692G>T) | |
| 4 | g.99619002C>A | CA357518180 | MTTP | c.2246C>A (p.Ala749Asp) c.1997C>A (p.Ala666Asp) c.2327C>A (p.Ala776Asp) c.*693C>A (n.*693C>A) | |
| 4 | g.99619002C= | CA1480086475 | MTTP | c.2246C= (p.Ala749=) c.1997C= (p.Ala666=) c.2327C= (p.Ala776=) c.*693C= (n.*693C=) | |
| 4 | g.99619002C>G | CA357518182 | MTTP | c.2246C>G (p.Ala749Gly) c.1997C>G (p.Ala666Gly) c.2327C>G (p.Ala776Gly) c.*693C>G (n.*693C>G) | |
| 4 | g.99619002C>T | CA3022326 | MTTP | c.2246C>T (p.Ala749Val) c.1997C>T (p.Ala666Val) c.2327C>T (p.Ala776Val) c.*693C>T (n.*693C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99619003C>A | CA440331341 | MTTP | c.2247C>A (p.Ala749=) c.1998C>A (p.Ala666=) c.2328C>A (p.Ala776=) c.*694C>A (n.*694C>A) | |
| 4 | g.99619003C>G | CA440331342 | MTTP | c.2247C>G (p.Ala749=) c.1998C>G (p.Ala666=) c.2328C>G (p.Ala776=) c.*694C>G (n.*694C>G) | |
| 4 | g.99619003C>T | CA440331343 | MTTP | c.2247C>T (p.Ala749=) c.1998C>T (p.Ala666=) c.2328C>T (p.Ala776=) c.*694C>T (n.*694C>T) | |
| 4 | g.99619004A>C | CA357518184 | MTTP | c.2248A>C (p.Asn750His) c.1999A>C (p.Asn667His) c.2329A>C (p.Asn777His) c.*695A>C (n.*695A>C) | gnomAD v4 |
| 4 | g.99619004A>G | CA357518186 | MTTP | c.2248A>G (p.Asn750Asp) c.1999A>G (p.Asn667Asp) c.2329A>G (p.Asn777Asp) c.*695A>G (n.*695A>G) | |
| 4 | g.99619004A>T | CA357518188 | MTTP | c.2248A>T (p.Asn750Tyr) c.1999A>T (p.Asn667Tyr) c.2329A>T (p.Asn777Tyr) c.*695A>T (n.*695A>T) | |
| 4 | g.99619005A= | CA1480086476 | MTTP | c.2249A= (p.Asn750=) c.2000A= (p.Asn667=) c.2330A= (p.Asn777=) c.*696A= (n.*696A=) | |
| 4 | g.99619005A>C | CA102649388 | MTTP | c.2249A>C (p.Asn750Thr) c.2000A>C (p.Asn667Thr) c.2330A>C (p.Asn777Thr) c.*696A>C (n.*696A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99619005A>G | CA3022327 | MTTP | c.2249A>G (p.Asn750Ser) c.2000A>G (p.Asn667Ser) c.2330A>G (p.Asn777Ser) c.*696A>G (n.*696A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99619005A>T | CA357518191 | MTTP | c.2249A>T (p.Asn750Ile) c.2000A>T (p.Asn667Ile) c.2330A>T (p.Asn777Ile) c.*696A>T (n.*696A>T) | |
| 4 | g.99619006T>A | CA357518193 | MTTP | c.2250T>A (p.Asn750Lys) c.2001T>A (p.Asn667Lys) c.2331T>A (p.Asn777Lys) c.*697T>A (n.*697T>A) | |
| 4 | g.99619006T>C | CA440331344 | MTTP | c.2250T>C (p.Asn750=) c.2001T>C (p.Asn667=) c.2331T>C (p.Asn777=) c.*697T>C (n.*697T>C) | dbSNP gnomAD v4 |
| 4 | g.99619006T>G | CA357518195 | MTTP | c.2250T>G (p.Asn750Lys) c.2001T>G (p.Asn667Lys) c.2331T>G (p.Asn777Lys) c.*697T>G (n.*697T>G) | |
| 4 | g.99619006T= | CA1480086477 | MTTP | c.2250T= (p.Asn750=) c.2001T= (p.Asn667=) c.2331T= (p.Asn777=) c.*697T= (n.*697T=) | |
| 4 | g.99619007A>C | CA357518201 | MTTP | c.2251A>C (p.Ile751Leu) c.2002A>C (p.Ile668Leu) c.2332A>C (p.Ile778Leu) c.*698A>C (n.*698A>C) | |
| 4 | g.99619007A>G | CA357518199 | MTTP | c.2251A>G (p.Ile751Val) c.2002A>G (p.Ile668Val) c.2332A>G (p.Ile778Val) c.*698A>G (n.*698A>G) | |
| 4 | g.99619007A>T | CA357518197 | MTTP | c.2251A>T (p.Ile751Leu) c.2002A>T (p.Ile668Leu) c.2332A>T (p.Ile778Leu) c.*698A>T (n.*698A>T) | |
| 4 | g.99619008T>A | CA357518203 | MTTP | c.2252T>A (p.Ile751Lys) c.2003T>A (p.Ile668Lys) c.2333T>A (p.Ile778Lys) c.*699T>A (n.*699T>A) | |
| 4 | g.99619008T>C | CA357518205 | MTTP | c.2252T>C (p.Ile751Thr) c.2003T>C (p.Ile668Thr) c.2333T>C (p.Ile778Thr) c.*699T>C (n.*699T>C) | dbSNP gnomAD v2 |
| 4 | g.99619008T>G | CA357518206 | MTTP | c.2252T>G (p.Ile751Arg) c.2003T>G (p.Ile668Arg) c.2333T>G (p.Ile778Arg) c.*699T>G (n.*699T>G) | |
| 4 | g.99619008T= | CA1480086478 | MTTP | c.2252T= (p.Ile751=) c.2003T= (p.Ile668=) c.2333T= (p.Ile778=) c.*699T= (n.*699T=) | |
| 4 | g.99619008_99619018delinsTAGAGGTCCAG | CA1480086479 | MTTP | c.2252_2262delinsTAGAGGTCCAG (p.Ile751=) c.2003_2013delinsTAGAGGTCCAG (p.Ile668=) c.2333_2343delinsTAGAGGTCCAG (p.Ile778=) c.*699_*709delinsTAGAGGTCCAG (n.*699_*709delinsTAGAGGTCCAG) | |
| 4 | g.99619009A>C | CA440331345 | MTTP | c.2253A>C (p.Ile751=) c.2004A>C (p.Ile668=) c.2334A>C (p.Ile778=) c.*700A>C (n.*700A>C) | |
| 4 | g.99619009A>G | CA357518208 | MTTP | c.2253A>G (p.Ile751Met) c.2004A>G (p.Ile668Met) c.2334A>G (p.Ile778Met) c.*700A>G (n.*700A>G) | |
| 4 | g.99619009A>T | CA440331346 | MTTP | c.2253A>T (p.Ile751=) c.2004A>T (p.Ile668=) c.2334A>T (p.Ile778=) c.*700A>T (n.*700A>T) | COSMIC |
| 4 | g.99619009_99619018del | CA553131009 | MTTP | c.2253_2262del (p.Ile751MetfsTer4) c.2004_2013del (p.Ile668MetfsTer4) c.2334_2343del (p.Ile778MetfsTer4) c.*700_*709del (n.*700_*709del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.99619010G>A | CA357518210 | MTTP | c.2254G>A (p.Glu752Lys) c.2005G>A (p.Glu669Lys) c.2335G>A (p.Glu779Lys) c.*701G>A (n.*701G>A) | |
| 4 | g.99619010G>C | CA357518212 | MTTP | c.2254G>C (p.Glu752Gln) c.2005G>C (p.Glu669Gln) c.2335G>C (p.Glu779Gln) c.*701G>C (n.*701G>C) | |
| 4 | g.99619010G>T | CA357518214 | MTTP | c.2254G>T (p.Glu752Ter) c.2005G>T (p.Glu669Ter) c.2335G>T (p.Glu779Ter) c.*701G>T (n.*701G>T) | gnomAD v4 |
| 4 | g.99619011A>C | CA357518216 | MTTP | c.2255A>C (p.Glu752Ala) c.2006A>C (p.Glu669Ala) c.2336A>C (p.Glu779Ala) c.*702A>C (n.*702A>C) | |
| 4 | g.99619011A>G | CA357518218 | MTTP | c.2255A>G (p.Glu752Gly) c.2006A>G (p.Glu669Gly) c.2336A>G (p.Glu779Gly) c.*702A>G (n.*702A>G) | |
| 4 | g.99619011A>T | CA357518220 | MTTP | c.2255A>T (p.Glu752Val) c.2006A>T (p.Glu669Val) c.2336A>T (p.Glu779Val) c.*702A>T (n.*702A>T) | |
| 4 | g.99619012G>A | CA440331347 | MTTP | c.2256G>A (p.Glu752=) c.2007G>A (p.Glu669=) c.2337G>A (p.Glu779=) c.*703G>A (n.*703G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.99619012G>C | CA357518222 | MTTP | c.2256G>C (p.Glu752Asp) c.2007G>C (p.Glu669Asp) c.2337G>C (p.Glu779Asp) c.*703G>C (n.*703G>C) | |
| 4 | g.99619012G= | CA1480086480 | MTTP | c.2256G= (p.Glu752=) c.2007G= (p.Glu669=) c.2337G= (p.Glu779=) c.*703G= (n.*703G=) | |
| 4 | g.99619012G>T | CA357518224 | MTTP | c.2256G>T (p.Glu752Asp) c.2007G>T (p.Glu669Asp) c.2337G>T (p.Glu779Asp) c.*703G>T (n.*703G>T) | |
| 4 | g.99619012_99619013insCCAATATA | CA2573138520 | MTTP | c.2256_2257insCCAATATA (p.Val753ProfsTer3) c.2007_2008insCCAATATA (p.Val670ProfsTer3) c.2337_2338insCCAATATA (p.Val780ProfsTer3) c.*703_*704insCCAATATA (n.*703_*704insCCAATATA) | ClinVar dbSNP |
| 4 | g.99619013G>A | CA357518230 | MTTP | c.2257G>A (p.Val753Ile) c.2008G>A (p.Val670Ile) c.2338G>A (p.Val780Ile) c.*704G>A (n.*704G>A) | |
| 4 | g.99619013G>C | CA357518228 | MTTP | c.2257G>C (p.Val753Leu) c.2008G>C (p.Val670Leu) c.2338G>C (p.Val780Leu) c.*704G>C (n.*704G>C) | |
| 4 | g.99619013G>T | CA357518226 | MTTP | c.2257G>T (p.Val753Phe) c.2008G>T (p.Val670Phe) c.2338G>T (p.Val780Phe) c.*704G>T (n.*704G>T) | |
| 4 | g.99619013_99619014del | CA2671535191 | MTTP | c.2257_2258del (p.Val753ProfsTer7) c.2008_2009del (p.Val670ProfsTer7) c.2338_2339del (p.Val780ProfsTer7) c.*704_*705del (n.*704_*705del) | gnomAD v4 |
| 4 | g.99619014T>A | CA357518236 | MTTP | c.2258T>A (p.Val753Asp) c.2009T>A (p.Val670Asp) c.2339T>A (p.Val780Asp) c.*705T>A (n.*705T>A) | |
| 4 | g.99619014T>C | CA357518232 | MTTP | c.2258T>C (p.Val753Ala) c.2009T>C (p.Val670Ala) c.2339T>C (p.Val780Ala) c.*705T>C (n.*705T>C) | |
| 4 | g.99619014T>G | CA357518234 | MTTP | c.2258T>G (p.Val753Gly) c.2009T>G (p.Val670Gly) c.2339T>G (p.Val780Gly) c.*705T>G (n.*705T>G) | |
| 4 | g.99619015C>A | CA3022328 | MTTP | c.2259C>A (p.Val753=) c.2010C>A (p.Val670=) c.2340C>A (p.Val780=) c.*706C>A (n.*706C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.99619015C= | CA1480086481 | MTTP | c.2259C= (p.Val753=) c.2010C= (p.Val670=) c.2340C= (p.Val780=) c.*706C= (n.*706C=) | |
| 4 | g.99619015C>G | CA440331353 | MTTP | c.2259C>G (p.Val753=) c.2010C>G (p.Val670=) c.2340C>G (p.Val780=) c.*706C>G (n.*706C>G) | |
| 4 | g.99619015C>T | CA440331354 | MTTP | c.2259C>T (p.Val753=) c.2010C>T (p.Val670=) c.2340C>T (p.Val780=) c.*706C>T (n.*706C>T) | gnomAD v4 |
| 4 | g.99619016C>A | CA357518239 | MTTP | c.2260C>A (p.Gln754Lys) c.2011C>A (p.Gln671Lys) c.2341C>A (p.Gln781Lys) c.*707C>A (n.*707C>A) | |
| 4 | g.99619016C= | CA1480086482 | MTTP | c.2260C= (p.Gln754=) c.2011C= (p.Gln671=) c.2341C= (p.Gln781=) c.*707C= (n.*707C=) | |
| 4 | g.99619016C>G | CA357518241 | MTTP | c.2260C>G (p.Gln754Glu) c.2011C>G (p.Gln671Glu) c.2341C>G (p.Gln781Glu) c.*707C>G (n.*707C>G) | |
| 4 | g.99619016C>T | CA357518242 | MTTP | c.2260C>T (p.Gln754Ter) c.2011C>T (p.Gln671Ter) c.2341C>T (p.Gln781Ter) c.*707C>T (n.*707C>T) | ClinVar dbSNP |
| 4 | g.99619017A>C | CA357518247 | MTTP | c.2261A>C (p.Gln754Pro) c.2012A>C (p.Gln671Pro) c.2342A>C (p.Gln781Pro) c.*708A>C (n.*708A>C) | |
| 4 | g.99619017A>G | CA357518244 | MTTP | c.2261A>G (p.Gln754Arg) c.2012A>G (p.Gln671Arg) c.2342A>G (p.Gln781Arg) c.*708A>G (n.*708A>G) | |
| 4 | g.99619017A>T | CA357518245 | MTTP | c.2261A>T (p.Gln754Leu) c.2012A>T (p.Gln671Leu) c.2342A>T (p.Gln781Leu) c.*708A>T (n.*708A>T) | |
| 4 | g.99619017_99619018insATATA | CA2671535192 | MTTP | c.2261_2262insATATA (p.Gly755TyrfsTer5) c.2012_2013insATATA (p.Gly672TyrfsTer5) c.2342_2343insATATA (p.Gly782TyrfsTer5) c.*708_*709insATATA (n.*708_*709insATATA) | gnomAD v4 |
| 4 | g.99619018G>A | CA440331359 | MTTP | c.2262G>A (p.Gln754=) c.2013G>A (p.Gln671=) c.2343G>A (p.Gln781=) c.*709G>A (n.*709G>A) | |
| 4 | g.99619018G>C | CA357518249 | MTTP | c.2262G>C (p.Gln754His) c.2013G>C (p.Gln671His) c.2343G>C (p.Gln781His) c.*709G>C (n.*709G>C) | |
| 4 | g.99619018G>T | CA357518250 | MTTP | c.2262G>T (p.Gln754His) c.2013G>T (p.Gln671His) c.2343G>T (p.Gln781His) c.*709G>T (n.*709G>T) | |
| 4 | g.99619018_99619019insACCAAT | CA2671535193 | MTTP | c.2262_2263insACCAAT (p.Gln754_Gly755insThrAsn) c.2013_2014insACCAAT (p.Gln671_Gly672insThrAsn) c.2343_2344insACCAAT (p.Gln781_Gly782insThrAsn) c.*709_*710insACCAAT (n.*709_*710insACCAAT) | gnomAD v4 |
| 4 | g.99619019G>A | CA357518253 | MTTP | c.2263G>A (p.Gly755Ser) c.2014G>A (p.Gly672Ser) c.2344G>A (p.Gly782Ser) c.*710G>A (n.*710G>A) | gnomAD v4 |
| 4 | g.99619019G>C | CA357518254 | MTTP | c.2263G>C (p.Gly755Arg) c.2014G>C (p.Gly672Arg) c.2344G>C (p.Gly782Arg) c.*710G>C (n.*710G>C) | |
| 4 | g.99619019G= | CA1480086483 | MTTP | c.2263G= (p.Gly755=) c.2014G= (p.Gly672=) c.2344G= (p.Gly782=) c.*710G= (n.*710G=) | |
| 4 | g.99619019G>T | CA3022329 | MTTP | c.2263G>T (p.Gly755Cys) c.2014G>T (p.Gly672Cys) c.2344G>T (p.Gly782Cys) c.*710G>T (n.*710G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.99619020G>A | CA357518257 | MTTP | c.2264G>A (p.Gly755Asp) c.2015G>A (p.Gly672Asp) c.2345G>A (p.Gly782Asp) c.*711G>A (n.*711G>A) | gnomAD v4 |
| 4 | g.99619020G>C | CA3022330 | MTTP | c.2264G>C (p.Gly755Ala) c.2015G>C (p.Gly672Ala) c.2345G>C (p.Gly782Ala) c.*711G>C (n.*711G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99619020G= | CA1480086484 | MTTP | c.2264G= (p.Gly755=) c.2015G= (p.Gly672=) c.2345G= (p.Gly782=) c.*711G= (n.*711G=) | |
| 4 | g.99619020G>T | CA357518259 | MTTP | c.2264G>T (p.Gly755Val) c.2015G>T (p.Gly672Val) c.2345G>T (p.Gly782Val) c.*711G>T (n.*711G>T) | |
| 4 | g.99619021T>A | CA440331362 | MTTP | c.2265T>A (p.Gly755=) c.2016T>A (p.Gly672=) c.2346T>A (p.Gly782=) c.*712T>A (n.*712T>A) | ClinVar dbSNP gnomAD v4 |
| 4 | g.99619021T>C | CA440331363 | MTTP | c.2265T>C (p.Gly755=) c.2016T>C (p.Gly672=) c.2346T>C (p.Gly782=) c.*712T>C (n.*712T>C) | |
| 4 | g.99619021T>G | CA3022331 | MTTP | c.2265T>G (p.Gly755=) c.2016T>G (p.Gly672=) c.2346T>G (p.Gly782=) c.*712T>G (n.*712T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99619021T= | CA1480086485 | MTTP | c.2265T= (p.Gly755=) c.2016T= (p.Gly672=) c.2346T= (p.Gly782=) c.*712T= (n.*712T=) | |
| 4 | g.99619022_99619026dup | CA553131017 | MTTP | c.2266_2270dup (p.Ala758ValfsTer2) c.2017_2021dup (p.Ala675ValfsTer2) c.2347_2351dup (p.Ala785ValfsTer2) c.*713_*717dup (n.*713_*717dup) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.99619022G>A | CA357518265 | MTTP | c.2266G>A (p.Gly756Ser) c.2017G>A (p.Gly673Ser) c.2347G>A (p.Gly783Ser) c.*713G>A (n.*713G>A) | |
| 4 | g.99619022G>C | CA357518267 | MTTP | c.2266G>C (p.Gly756Arg) c.2017G>C (p.Gly673Arg) c.2347G>C (p.Gly783Arg) c.*713G>C (n.*713G>C) | gnomAD v4 |
| 4 | g.99619022G>T | CA357518269 | MTTP | c.2266G>T (p.Gly756Cys) c.2017G>T (p.Gly673Cys) c.2347G>T (p.Gly783Cys) c.*713G>T (n.*713G>T) | |
| 4 | g.99619023G>A | CA357518271 | MTTP | c.2267G>A (p.Gly756Asp) c.2018G>A (p.Gly673Asp) c.2348G>A (p.Gly783Asp) c.*714G>A (n.*714G>A) | |
| 4 | g.99619023G>C | CA357518273 | MTTP | c.2267G>C (p.Gly756Ala) c.2018G>C (p.Gly673Ala) c.2348G>C (p.Gly783Ala) c.*714G>C (n.*714G>C) | |
| 4 | g.99619023G>T | CA357518275 | MTTP | c.2267G>T (p.Gly756Val) c.2018G>T (p.Gly673Val) c.2348G>T (p.Gly783Val) c.*714G>T (n.*714G>T) | |
| 4 | g.99619024T>A | CA440331364 | MTTP | c.2268T>A (p.Gly756=) c.2019T>A (p.Gly673=) c.2349T>A (p.Gly783=) c.*715T>A (n.*715T>A) | |
| 4 | g.99619024T>C | CA440331365 | MTTP | c.2268T>C (p.Gly756=) c.2019T>C (p.Gly673=) c.2349T>C (p.Gly783=) c.*715T>C (n.*715T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.99619024T>G | CA440331367 | MTTP | c.2268T>G (p.Gly756=) c.2019T>G (p.Gly673=) c.2349T>G (p.Gly783=) c.*715T>G (n.*715T>G) | |
| 4 | g.99619024T= | CA1480086486 | MTTP | c.2268T= (p.Gly756=) c.2019T= (p.Gly673=) c.2349T= (p.Gly783=) c.*715T= (n.*715T=) | |
| 4 | g.99619025C>A | CA357518276 | MTTP | c.2269C>A (p.Leu757Ile) c.2020C>A (p.Leu674Ile) c.2350C>A (p.Leu784Ile) c.*716C>A (n.*716C>A) | |
| 4 | g.99619025C>G | CA357518278 | MTTP | c.2269C>G (p.Leu757Val) c.2020C>G (p.Leu674Val) c.2350C>G (p.Leu784Val) c.*716C>G (n.*716C>G) | |
| 4 | g.99619025C>T | CA440331370 | MTTP | c.2269C>T (p.Leu757=) c.2020C>T (p.Leu674=) c.2350C>T (p.Leu784=) c.*716C>T (n.*716C>T) | |
| 4 | g.99619026T>A | CA357518280 | MTTP | c.2270T>A (p.Leu757Gln) c.2021T>A (p.Leu674Gln) c.2351T>A (p.Leu784Gln) c.*717T>A (n.*717T>A) | |
| 4 | g.99619026T>C | CA357518282 | MTTP | c.2270T>C (p.Leu757Pro) c.2021T>C (p.Leu674Pro) c.2351T>C (p.Leu784Pro) c.*717T>C (n.*717T>C) | gnomAD v4 |
| 4 | g.99619026T>G | CA357518283 | MTTP | c.2270T>G (p.Leu757Arg) c.2021T>G (p.Leu674Arg) c.2351T>G (p.Leu784Arg) c.*717T>G (n.*717T>G) | |
| 4 | g.99619027A>C | CA440331373 | MTTP | c.2271A>C (p.Leu757=) c.2022A>C (p.Leu674=) c.2352A>C (p.Leu784=) c.*718A>C (n.*718A>C) | |
| 4 | g.99619027A>G | CA440331371 | MTTP | c.2271A>G (p.Leu757=) c.2022A>G (p.Leu674=) c.2352A>G (p.Leu784=) c.*718A>G (n.*718A>G) | |
| 4 | g.99619027A>T | CA440331372 | MTTP | c.2271A>T (p.Leu757=) c.2022A>T (p.Leu674=) c.2352A>T (p.Leu784=) c.*718A>T (n.*718A>T) | |
| 4 | g.99619028G>A | CA357518287 | MTTP | c.2272G>A (p.Ala758Thr) c.2023G>A (p.Ala675Thr) c.2353G>A (p.Ala785Thr) c.*719G>A (n.*719G>A) | |
| 4 | g.99619028G>C | CA357518289 | MTTP | c.2272G>C (p.Ala758Pro) c.2023G>C (p.Ala675Pro) c.2353G>C (p.Ala785Pro) c.*719G>C (n.*719G>C) | |
| 4 | g.99619028G>T | CA357518286 | MTTP | c.2272G>T (p.Ala758Ser) c.2023G>T (p.Ala675Ser) c.2353G>T (p.Ala785Ser) c.*719G>T (n.*719G>T) | |
| 4 | g.99619029C>A | CA357518290 | MTTP | c.2273C>A (p.Ala758Asp) c.2024C>A (p.Ala675Asp) c.2354C>A (p.Ala785Asp) c.*720C>A (n.*720C>A) | dbSNP |
| 4 | g.99619029C= | CA1480086487 | MTTP | c.2273C= (p.Ala758=) c.2024C= (p.Ala675=) c.2354C= (p.Ala785=) c.*720C= (n.*720C=) | |
| 4 | g.99619029C>G | CA357518293 | MTTP | c.2273C>G (p.Ala758Gly) c.2024C>G (p.Ala675Gly) c.2354C>G (p.Ala785Gly) c.*720C>G (n.*720C>G) | |
| 4 | g.99619029C>T | CA357518291 | MTTP | c.2273C>T (p.Ala758Val) c.2024C>T (p.Ala675Val) c.2354C>T (p.Ala785Val) c.*720C>T (n.*720C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.99619030T>A | CA440331377 | MTTP | c.2274T>A (p.Ala758=) c.2025T>A (p.Ala675=) c.2355T>A (p.Ala785=) c.*721T>A (n.*721T>A) | |
| 4 | g.99619030T>C | CA440331379 | MTTP | c.2274T>C (p.Ala758=) c.2025T>C (p.Ala675=) c.2355T>C (p.Ala785=) c.*721T>C (n.*721T>C) | ClinVar dbSNP |
| 4 | g.99619030T>G | CA440331380 | MTTP | c.2274T>G (p.Ala758=) c.2025T>G (p.Ala675=) c.2355T>G (p.Ala785=) c.*721T>G (n.*721T>G) | |
| 4 | g.99619031A= | CA1480086489 | MTTP | c.2275A= (p.Ile759=) c.2026A= (p.Ile676=) c.2356A= (p.Ile786=) c.*722A= (n.*722A=) | |
| 4 | g.99619031A>C | CA357518294 | MTTP | c.2275A>C (p.Ile759Leu) c.2026A>C (p.Ile676Leu) c.2356A>C (p.Ile786Leu) c.*722A>C (n.*722A>C) | |
| 4 | g.99619031A>G | CA357518295 | MTTP | c.2275A>G (p.Ile759Val) c.2026A>G (p.Ile676Val) c.2356A>G (p.Ile786Val) c.*722A>G (n.*722A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99619031A>T | CA357518297 | MTTP | c.2275A>T (p.Ile759Phe) c.2026A>T (p.Ile676Phe) c.2356A>T (p.Ile786Phe) c.*722A>T (n.*722A>T) | |
| 4 | g.99619031_99619032delinsAT | CA1480086488 | MTTP | c.2275_2276delinsAT (p.Ile759=) c.2026_2027delinsAT (p.Ile676=) c.2356_2357delinsAT (p.Ile786=) c.*722_*723delinsAT (n.*722_*723delinsAT) | |
| 4 | g.99619032T>A | CA357518299 | MTTP | c.2276T>A (p.Ile759Asn) c.2027T>A (p.Ile676Asn) c.2357T>A (p.Ile786Asn) c.*723T>A (n.*723T>A) | |
| 4 | g.99619032T>C | CA357518302 | MTTP | c.2276T>C (p.Ile759Thr) c.2027T>C (p.Ile676Thr) c.2357T>C (p.Ile786Thr) c.*723T>C (n.*723T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99619032T>G | CA357518303 | MTTP | c.2276T>G (p.Ile759Ser) c.2027T>G (p.Ile676Ser) c.2357T>G (p.Ile786Ser) c.*723T>G (n.*723T>G) | |
| 4 | g.99619032T= | CA1480086490 | MTTP | c.2276T= (p.Ile759=) c.2027T= (p.Ile676=) c.2357T= (p.Ile786=) c.*723T= (n.*723T=) | |
| 4 | g.99619033del | CA1065946056 | MTTP | c.2277del (p.Ile759MetfsTer20) c.2028del (p.Ile676MetfsTer20) c.2358del (p.Ile786MetfsTer20) c.*724del (n.*724del) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.99619033T>A | CA440331387 | MTTP | c.2277T>A (p.Ile759=) c.2028T>A (p.Ile676=) c.2358T>A (p.Ile786=) c.*724T>A (n.*724T>A) | |
| 4 | g.99619033T>C | CA102649419 | MTTP | c.2277T>C (p.Ile759=) c.2028T>C (p.Ile676=) c.2358T>C (p.Ile786=) c.*724T>C (n.*724T>C) | dbSNP gnomAD v4 |
| 4 | g.99619033T>G | CA357518305 | MTTP | c.2277T>G (p.Ile759Met) c.2028T>G (p.Ile676Met) c.2358T>G (p.Ile786Met) c.*724T>G (n.*724T>G) | gnomAD v4 |
| 4 | g.99619033T= | CA1480086491 | MTTP | c.2277T= (p.Ile759=) c.2028T= (p.Ile676=) c.2358T= (p.Ile786=) c.*724T= (n.*724T=) | |
| 4 | g.99619034G>A | CA357518308 | MTTP | c.2278G>A (p.Asp760Asn) c.2029G>A (p.Asp677Asn) c.2359G>A (p.Asp787Asn) c.*725G>A (n.*725G>A) | |
| 4 | g.99619034G>C | CA357518309 | MTTP | c.2278G>C (p.Asp760His) c.2029G>C (p.Asp677His) c.2359G>C (p.Asp787His) c.*725G>C (n.*725G>C) | |
| 4 | g.99619034G>T | CA357518310 | MTTP | c.2278G>T (p.Asp760Tyr) c.2029G>T (p.Asp677Tyr) c.2359G>T (p.Asp787Tyr) c.*725G>T (n.*725G>T) | |
| 4 | g.99619035A>C | CA357518315 | MTTP | c.2279A>C (p.Asp760Ala) c.2030A>C (p.Asp677Ala) c.2360A>C (p.Asp787Ala) c.*726A>C (n.*726A>C) | |
| 4 | g.99619035A>G | CA357518314 | MTTP | c.2279A>G (p.Asp760Gly) c.2030A>G (p.Asp677Gly) c.2360A>G (p.Asp787Gly) c.*726A>G (n.*726A>G) | |
| 4 | g.99619035A>T | CA357518312 | MTTP | c.2279A>T (p.Asp760Val) c.2030A>T (p.Asp677Val) c.2360A>T (p.Asp787Val) c.*726A>T (n.*726A>T) | |
| 4 | g.99619036T>A | CA357518317 | MTTP | c.2280T>A (p.Asp760Glu) c.2031T>A (p.Asp677Glu) c.2361T>A (p.Asp787Glu) c.*727T>A (n.*727T>A) | |
| 4 | g.99619036T>C | CA440331392 | MTTP | c.2280T>C (p.Asp760=) c.2031T>C (p.Asp677=) c.2361T>C (p.Asp787=) c.*727T>C (n.*727T>C) | ClinVar dbSNP gnomAD v4 |
| 4 | g.99619036T>G | CA357518319 | MTTP | c.2280T>G (p.Asp760Glu) c.2031T>G (p.Asp677Glu) c.2361T>G (p.Asp787Glu) c.*727T>G (n.*727T>G) | |
| 4 | g.99619037A>C | CA357518321 | MTTP | c.2281A>C (p.Ile761Leu) c.2032A>C (p.Ile678Leu) c.2362A>C (p.Ile788Leu) c.*728A>C (n.*728A>C) | |
| 4 | g.99619037A>G | CA357518323 | MTTP | c.2281A>G (p.Ile761Val) c.2032A>G (p.Ile678Val) c.2362A>G (p.Ile788Val) c.*728A>G (n.*728A>G) | |
| 4 | g.99619037A>T | CA357518325 | MTTP | c.2281A>T (p.Ile761Phe) c.2032A>T (p.Ile678Phe) c.2362A>T (p.Ile788Phe) c.*728A>T (n.*728A>T) | |
| 4 | g.99619038T>A | CA357518327 | MTTP | c.2282T>A (p.Ile761Asn) c.2033T>A (p.Ile678Asn) c.2363T>A (p.Ile788Asn) c.*729T>A (n.*729T>A) | |
| 4 | g.99619038T>C | CA357518329 | MTTP | c.2282T>C (p.Ile761Thr) c.2033T>C (p.Ile678Thr) c.2363T>C (p.Ile788Thr) c.*729T>C (n.*729T>C) | gnomAD v4 COSMIC |
| 4 | g.99619038T>G | CA357518330 | MTTP | c.2282T>G (p.Ile761Ser) c.2033T>G (p.Ile678Ser) c.2363T>G (p.Ile788Ser) c.*729T>G (n.*729T>G) | |
| 4 | g.99619039T>A | CA440331395 | MTTP | c.2283T>A (p.Ile761=) c.2034T>A (p.Ile678=) c.2364T>A (p.Ile788=) c.*730T>A (n.*730T>A) | |
| 4 | g.99619039T>C | CA440331396 | MTTP | c.2283T>C (p.Ile761=) c.2034T>C (p.Ile678=) c.2364T>C (p.Ile788=) c.*730T>C (n.*730T>C) | |
| 4 | g.99619039T>G | CA357518332 | MTTP | c.2283T>G (p.Ile761Met) c.2034T>G (p.Ile678Met) c.2364T>G (p.Ile788Met) c.*730T>G (n.*730T>G) | |
| 4 | g.99619040T>A | CA357518334 | MTTP | c.2284T>A (p.Ser762Thr) c.2035T>A (p.Ser679Thr) c.2365T>A (p.Ser789Thr) c.*731T>A (n.*731T>A) | |
| 4 | g.99619040T>C | CA357518336 | MTTP | c.2284T>C (p.Ser762Pro) c.2035T>C (p.Ser679Pro) c.2365T>C (p.Ser789Pro) c.*731T>C (n.*731T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.99619040T>G | CA357518338 | MTTP | c.2284T>G (p.Ser762Ala) c.2035T>G (p.Ser679Ala) c.2365T>G (p.Ser789Ala) c.*731T>G (n.*731T>G) | |
| 4 | g.99619040T= | CA1480086492 | MTTP | c.2284T= (p.Ser762=) c.2035T= (p.Ser679=) c.2365T= (p.Ser789=) c.*731T= (n.*731T=) | |
| 4 | g.99619041C>A | CA357518341 | MTTP | c.2285C>A (p.Ser762Ter) c.2036C>A (p.Ser679Ter) c.2366C>A (p.Ser789Ter) c.*732C>A (n.*732C>A) | |
| 4 | g.99619041C>G | CA357518342 | MTTP | c.2285C>G (p.Ser762Ter) c.2036C>G (p.Ser679Ter) c.2366C>G (p.Ser789Ter) c.*732C>G (n.*732C>G) | |
| 4 | g.99619041C>T | CA357518339 | MTTP | c.2285C>T (p.Ser762Leu) c.2036C>T (p.Ser679Leu) c.2366C>T (p.Ser789Leu) c.*732C>T (n.*732C>T) | |
| 4 | g.99619042A= | CA1480086493 | MTTP | c.2286A= (p.Ser762=) c.2037A= (p.Ser679=) c.2367A= (p.Ser789=) c.*733A= (n.*733A=) | |
| 4 | g.99619042A>C | CA440331399 | MTTP | c.2286A>C (p.Ser762=) c.2037A>C (p.Ser679=) c.2367A>C (p.Ser789=) c.*733A>C (n.*733A>C) | |
| 4 | g.99619042A>G | CA440331400 | MTTP | c.2286A>G (p.Ser762=) c.2037A>G (p.Ser679=) c.2367A>G (p.Ser789=) c.*733A>G (n.*733A>G) | |
| 4 | g.99619042A>T | CA440331401 | MTTP | c.2286A>T (p.Ser762=) c.2037A>T (p.Ser679=) c.2367A>T (p.Ser789=) c.*733A>T (n.*733A>T) | dbSNP |
| 4 | g.99619043G>A | CA357518344 | MTTP | c.2287G>A (p.Gly763Ser) c.2038G>A (p.Gly680Ser) c.2368G>A (p.Gly790Ser) c.*734G>A (n.*734G>A) | |
| 4 | g.99619043G>C | CA357518346 | MTTP | c.2287G>C (p.Gly763Arg) c.2038G>C (p.Gly680Arg) c.2368G>C (p.Gly790Arg) c.*734G>C (n.*734G>C) | gnomAD v4 |
| 4 | g.99619043G>T | CA357518348 | MTTP | c.2287G>T (p.Gly763Cys) c.2038G>T (p.Gly680Cys) c.2368G>T (p.Gly790Cys) c.*734G>T (n.*734G>T) | |
| 4 | g.99619044G>A | CA357518350 | MTTP | c.2288G>A (p.Gly763Asp) c.2039G>A (p.Gly680Asp) c.2369G>A (p.Gly790Asp) c.*735G>A (n.*735G>A) | gnomAD v4 |
| 4 | g.99619044G>C | CA357518352 | MTTP | c.2288G>C (p.Gly763Ala) c.2039G>C (p.Gly680Ala) c.2369G>C (p.Gly790Ala) c.*735G>C (n.*735G>C) | |
| 4 | g.99619044G>T | CA357518353 | MTTP | c.2288G>T (p.Gly763Val) c.2039G>T (p.Gly680Val) c.2369G>T (p.Gly790Val) c.*735G>T (n.*735G>T) | |
| 4 | g.99619045T>A | CA440331409 | MTTP | c.2289T>A (p.Gly763=) c.2040T>A (p.Gly680=) c.2370T>A (p.Gly790=) c.*736T>A (n.*736T>A) | |
| 4 | g.99619045T>C | CA440331411 | MTTP | c.2289T>C (p.Gly763=) c.2040T>C (p.Gly680=) c.2370T>C (p.Gly790=) c.*736T>C (n.*736T>C) | |
| 4 | g.99619045T>G | CA440331412 | MTTP | c.2289T>G (p.Gly763=) c.2040T>G (p.Gly680=) c.2370T>G (p.Gly790=) c.*736T>G (n.*736T>G) | |
| 4 | g.99619046G>A | CA357518355 | MTTP | c.2290G>A (p.Ala764Thr) c.2041G>A (p.Ala681Thr) c.2371G>A (p.Ala791Thr) c.*737G>A (n.*737G>A) | |
| 4 | g.99619046G>C | CA357518357 | MTTP | c.2290G>C (p.Ala764Pro) c.2041G>C (p.Ala681Pro) c.2371G>C (p.Ala791Pro) c.*737G>C (n.*737G>C) | |
| 4 | g.99619046G= | CA1480086494 | MTTP | c.2290G= (p.Ala764=) c.2041G= (p.Ala681=) c.2371G= (p.Ala791=) c.*737G= (n.*737G=) | |
| 4 | g.99619046G>T | CA357518359 | MTTP | c.2290G>T (p.Ala764Ser) c.2041G>T (p.Ala681Ser) c.2371G>T (p.Ala791Ser) c.*737G>T (n.*737G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.99619047C>A | CA357518361 | MTTP | c.2291C>A (p.Ala764Glu) c.2042C>A (p.Ala681Glu) c.2372C>A (p.Ala791Glu) c.*738C>A (n.*738C>A) | |
| 4 | g.99619047C= | CA1480086495 | MTTP | c.2291C= (p.Ala764=) c.2042C= (p.Ala681=) c.2372C= (p.Ala791=) c.*738C= (n.*738C=) | |
| 4 | g.99619047C>G | CA357518363 | MTTP | c.2291C>G (p.Ala764Gly) c.2042C>G (p.Ala681Gly) c.2372C>G (p.Ala791Gly) c.*738C>G (n.*738C>G) | |
| 4 | g.99619047C>T | CA357518365 | MTTP | c.2291C>T (p.Ala764Val) c.2042C>T (p.Ala681Val) c.2372C>T (p.Ala791Val) c.*738C>T (n.*738C>T) | dbSNP |
| 4 | g.99619048A>C | CA440331414 | MTTP | c.2292A>C (p.Ala764=) c.2043A>C (p.Ala681=) c.2373A>C (p.Ala791=) c.*739A>C (n.*739A>C) | |
| 4 | g.99619048A>G | CA440331416 | MTTP | c.2292A>G (p.Ala764=) c.2043A>G (p.Ala681=) c.2373A>G (p.Ala791=) c.*739A>G (n.*739A>G) | gnomAD v4 |
| 4 | g.99619048A>T | CA440331417 | MTTP | c.2292A>T (p.Ala764=) c.2043A>T (p.Ala681=) c.2373A>T (p.Ala791=) c.*739A>T (n.*739A>T) | |
| 4 | g.99619049A>C | CA357518369 | MTTP | c.2293A>C (p.Met765Leu) c.2044A>C (p.Met682Leu) c.2374A>C (p.Met792Leu) c.*740A>C (n.*740A>C) | |
| 4 | g.99619049A>G | CA357518371 | MTTP | c.2293A>G (p.Met765Val) c.2044A>G (p.Met682Val) c.2374A>G (p.Met792Val) c.*740A>G (n.*740A>G) | gnomAD v4 |
| 4 | g.99619049A>T | CA357518367 | MTTP | c.2293A>T (p.Met765Leu) c.2044A>T (p.Met682Leu) c.2374A>T (p.Met792Leu) c.*740A>T (n.*740A>T) | |
| 4 | g.99619050T>A | CA357518372 | MTTP | c.2294T>A (p.Met765Lys) c.2045T>A (p.Met682Lys) c.2375T>A (p.Met792Lys) c.*741T>A (n.*741T>A) | |
| 4 | g.99619050T>C | CA357518373 | MTTP | c.2294T>C (p.Met765Thr) c.2045T>C (p.Met682Thr) c.2375T>C (p.Met792Thr) c.*741T>C (n.*741T>C) | |
| 4 | g.99619050T>G | CA357518374 | MTTP | c.2294T>G (p.Met765Arg) c.2045T>G (p.Met682Arg) c.2375T>G (p.Met792Arg) c.*741T>G (n.*741T>G) | |
| 4 | g.99619051G>A | CA357518376 | MTTP | c.2295G>A (p.Met765Ile) c.2046G>A (p.Met682Ile) c.2376G>A (p.Met792Ile) c.*742G>A (n.*742G>A) | COSMIC |
| 4 | g.99619051G>C | CA357518378 | MTTP | c.2295G>C (p.Met765Ile) c.2046G>C (p.Met682Ile) c.2376G>C (p.Met792Ile) c.*742G>C (n.*742G>C) | |
| 4 | g.99619051G>T | CA357518380 | MTTP | c.2295G>T (p.Met765Ile) c.2046G>T (p.Met682Ile) c.2376G>T (p.Met792Ile) c.*742G>T (n.*742G>T) | |
| 4 | g.99619052G>A | CA357518382 | MTTP | c.2296G>A (p.Glu766Lys) c.2047G>A (p.Glu683Lys) c.2377G>A (p.Glu793Lys) c.*743G>A (n.*743G>A) | |
| 4 | g.99619052G>C | CA357518385 | MTTP | c.2296G>C (p.Glu766Gln) c.2047G>C (p.Glu683Gln) c.2377G>C (p.Glu793Gln) c.*743G>C (n.*743G>C) | |
| 4 | g.99619052G>T | CA357518384 | MTTP | c.2296G>T (p.Glu766Ter) c.2047G>T (p.Glu683Ter) c.2377G>T (p.Glu793Ter) c.*743G>T (n.*743G>T) | COSMIC |
| 4 | g.99619053A>C | CA357518387 | MTTP | c.2297A>C (p.Glu766Ala) c.2048A>C (p.Glu683Ala) c.2378A>C (p.Glu793Ala) c.*744A>C (n.*744A>C) | |
| 4 | g.99619053A>G | CA357518389 | MTTP | c.2297A>G (p.Glu766Gly) c.2048A>G (p.Glu683Gly) c.2378A>G (p.Glu793Gly) c.*744A>G (n.*744A>G) | |
| 4 | g.99619053A>T | CA357518391 | MTTP | c.2297A>T (p.Glu766Val) c.2048A>T (p.Glu683Val) c.2378A>T (p.Glu793Val) c.*744A>T (n.*744A>T) | |
| 4 | g.99619054G>A | CA440331424 | MTTP | c.2298G>A (p.Glu766=) c.2049G>A (p.Glu683=) c.2379G>A (p.Glu793=) c.*745G>A (n.*745G>A) | dbSNP |
| 4 | g.99619054G>C | CA357518393 | MTTP | c.2298G>C (p.Glu766Asp) c.2049G>C (p.Glu683Asp) c.2379G>C (p.Glu793Asp) c.*745G>C (n.*745G>C) | |
| 4 | g.99619054G= | CA1480086496 | MTTP | c.2298G= (p.Glu766=) c.2049G= (p.Glu683=) c.2379G= (p.Glu793=) c.*745G= (n.*745G=) | |
| 4 | g.99619054G>T | CA357518395 | MTTP | c.2298G>T (p.Glu766Asp) c.2049G>T (p.Glu683Asp) c.2379G>T (p.Glu793Asp) c.*745G>T (n.*745G>T) | |
| 4 | g.99619055T>A | CA357518399 | MTTP | c.2299T>A (p.Phe767Ile) c.2050T>A (p.Phe684Ile) c.2380T>A (p.Phe794Ile) c.*746T>A (n.*746T>A) | |
| 4 | g.99619055T>C | CA357518401 | MTTP | c.2299T>C (p.Phe767Leu) c.2050T>C (p.Phe684Leu) c.2380T>C (p.Phe794Leu) c.*746T>C (n.*746T>C) | gnomAD v4 |
| 4 | g.99619055T>G | CA357518397 | MTTP | c.2299T>G (p.Phe767Val) c.2050T>G (p.Phe684Val) c.2380T>G (p.Phe794Val) c.*746T>G (n.*746T>G) | |
| 4 | g.99619055_99619056delinsA | CA2580071927 | MTTP | c.2299_2300delinsA (p.Phe767IlefsTer12) c.2050_2051delinsA (p.Phe684IlefsTer12) c.2380_2381delinsA (p.Phe794IlefsTer12) c.*746_*747delinsA (n.*746_*747delinsA) | ClinVar |
| 4 | g.99619056T>A | CA357518404 | MTTP | c.2300T>A (p.Phe767Tyr) c.2051T>A (p.Phe684Tyr) c.2381T>A (p.Phe794Tyr) c.*747T>A (n.*747T>A) | |
| 4 | g.99619056T>C | CA357518403 | MTTP | c.2300T>C (p.Phe767Ser) c.2051T>C (p.Phe684Ser) c.2381T>C (p.Phe794Ser) c.*747T>C (n.*747T>C) | |
| 4 | g.99619056T>G | CA357518406 | MTTP | c.2300T>G (p.Phe767Cys) c.2051T>G (p.Phe684Cys) c.2381T>G (p.Phe794Cys) c.*747T>G (n.*747T>G) | |
| 4 | g.99619057T>A | CA357518408 | MTTP | c.2301T>A (p.Phe767Leu) c.2052T>A (p.Phe684Leu) c.2382T>A (p.Phe794Leu) c.*748T>A (n.*748T>A) | |
| 4 | g.99619057T>C | CA440331431 | MTTP | c.2301T>C (p.Phe767=) c.2052T>C (p.Phe684=) c.2382T>C (p.Phe794=) c.*748T>C (n.*748T>C) | dbSNP |
| 4 | g.99619057T>G | CA357518410 | MTTP | c.2301T>G (p.Phe767Leu) c.2052T>G (p.Phe684Leu) c.2382T>G (p.Phe794Leu) c.*748T>G (n.*748T>G) | gnomAD v4 |
| 4 | g.99619057T= | CA1480086497 | MTTP | c.2301T= (p.Phe767=) c.2052T= (p.Phe684=) c.2382T= (p.Phe794=) c.*748T= (n.*748T=) | |
| 4 | g.99619058A= | CA1480086498 | MTTP | c.2302A= (p.Ser768=) c.2053A= (p.Ser685=) c.2383A= (p.Ser795=) c.*749A= (n.*749A=) | |
| 4 | g.99619058A>C | CA357518412 | MTTP | c.2302A>C (p.Ser768Arg) c.2053A>C (p.Ser685Arg) c.2383A>C (p.Ser795Arg) c.*749A>C (n.*749A>C) | |
| 4 | g.99619058A>G | CA102649429 | MTTP | c.2302A>G (p.Ser768Gly) c.2053A>G (p.Ser685Gly) c.2383A>G (p.Ser795Gly) c.*749A>G (n.*749A>G) | dbSNP |
| 4 | g.99619058A>T | CA357518415 | MTTP | c.2302A>T (p.Ser768Cys) c.2053A>T (p.Ser685Cys) c.2383A>T (p.Ser795Cys) c.*749A>T (n.*749A>T) | |
| 4 | g.99619059G>A | CA357518417 | MTTP | c.2303G>A (p.Ser768Asn) c.2054G>A (p.Ser685Asn) c.2384G>A (p.Ser795Asn) c.*750G>A (n.*750G>A) | |
| 4 | g.99619059G>C | CA357518419 | MTTP | c.2303G>C (p.Ser768Thr) c.2054G>C (p.Ser685Thr) c.2384G>C (p.Ser795Thr) c.*750G>C (n.*750G>C) | |
| 4 | g.99619059G>T | CA357518420 | MTTP | c.2303G>T (p.Ser768Ile) c.2054G>T (p.Ser685Ile) c.2384G>T (p.Ser795Ile) c.*750G>T (n.*750G>T) | dbSNP |
| 4 | g.99619060C>A | CA357518423 | MTTP | c.2304C>A (p.Ser768Arg) c.2055C>A (p.Ser685Arg) c.2385C>A (p.Ser795Arg) c.*751C>A (n.*751C>A) | |
| 4 | g.99619060C= | CA1480086499 | MTTP | c.2304C= (p.Ser768=) c.2055C= (p.Ser685=) c.2385C= (p.Ser795=) c.*751C= (n.*751C=) | |
| 4 | g.99619060C>G | CA357518424 | MTTP | c.2304C>G (p.Ser768Arg) c.2055C>G (p.Ser685Arg) c.2385C>G (p.Ser795Arg) c.*751C>G (n.*751C>G) | |
| 4 | g.99619060C>T | CA440331434 | MTTP | c.2304C>T (p.Ser768=) c.2055C>T (p.Ser685=) c.2385C>T (p.Ser795=) c.*751C>T (n.*751C>T) | dbSNP |
| 4 | g.99619061T>A | CA357518425 | MTTP | c.2305T>A (p.Leu769Met) c.2056T>A (p.Leu686Met) c.2386T>A (p.Leu796Met) c.*752T>A (n.*752T>A) | |
| 4 | g.99619061T>C | CA440331436 | MTTP | c.2305T>C (p.Leu769=) c.2056T>C (p.Leu686=) c.2386T>C (p.Leu796=) c.*752T>C (n.*752T>C) | dbSNP |
| 4 | g.99619061T>G | CA357518427 | MTTP | c.2305T>G (p.Leu769Val) c.2056T>G (p.Leu686Val) c.2386T>G (p.Leu796Val) c.*752T>G (n.*752T>G) | |
| 4 | g.99619061T= | CA1480086500 | MTTP | c.2305T= (p.Leu769=) c.2056T= (p.Leu686=) c.2386T= (p.Leu796=) c.*752T= (n.*752T=) | |
| 4 | g.99619062T>A | CA357518429 | MTTP | c.2306T>A (p.Leu769Ter) c.2057T>A (p.Leu686Ter) c.2387T>A (p.Leu796Ter) c.*753T>A (n.*753T>A) | gnomAD v4 |
| 4 | g.99619062T>C | CA357518431 | MTTP | c.2306T>C (p.Leu769Ser) c.2057T>C (p.Leu686Ser) c.2387T>C (p.Leu796Ser) c.*753T>C (n.*753T>C) | |
| 4 | g.99619062T>G | CA357518433 | MTTP | c.2306T>G (p.Leu769Trp) c.2057T>G (p.Leu686Trp) c.2387T>G (p.Leu796Trp) c.*753T>G (n.*753T>G) | |
| 4 | g.99619063G>A | CA440331440 | MTTP | c.2307G>A (p.Leu769=) c.2058G>A (p.Leu686=) c.2388G>A (p.Leu796=) c.*754G>A (n.*754G>A) | dbSNP gnomAD v4 |
| 4 | g.99619063G>C | CA357518437 | MTTP | c.2307G>C (p.Leu769Phe) c.2058G>C (p.Leu686Phe) c.2388G>C (p.Leu796Phe) c.*754G>C (n.*754G>C) | |
| 4 | g.99619063G= | CA1480086501 | MTTP | c.2307G= (p.Leu769=) c.2058G= (p.Leu686=) c.2388G= (p.Leu796=) c.*754G= (n.*754G=) | |
| 4 | g.99619063G>T | CA357518435 | MTTP | c.2307G>T (p.Leu769Phe) c.2058G>T (p.Leu686Phe) c.2388G>T (p.Leu796Phe) c.*754G>T (n.*754G>T) | |
| 4 | g.99619064T>A | CA357518438 | MTTP | c.2308T>A (p.Trp770Arg) c.2059T>A (p.Trp687Arg) c.2389T>A (p.Trp797Arg) c.*755T>A (n.*755T>A) | |
| 4 | g.99619064T>C | CA357518440 | MTTP | c.2308T>C (p.Trp770Arg) c.2059T>C (p.Trp687Arg) c.2389T>C (p.Trp797Arg) c.*755T>C (n.*755T>C) | |
| 4 | g.99619064T>G | CA357518441 | MTTP | c.2308T>G (p.Trp770Gly) c.2059T>G (p.Trp687Gly) c.2389T>G (p.Trp797Gly) c.*755T>G (n.*755T>G) | |
| 4 | g.99619065G>A | CA357518444 | MTTP | c.2309G>A (p.Trp770Ter) c.2060G>A (p.Trp687Ter) c.2390G>A (p.Trp797Ter) c.*756G>A (n.*756G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.99619065G>C | CA357518446 | MTTP | c.2309G>C (p.Trp770Ser) c.2060G>C (p.Trp687Ser) c.2390G>C (p.Trp797Ser) c.*756G>C (n.*756G>C) | |
| 4 | g.99619065G= | CA1480086502 | MTTP | c.2309G= (p.Trp770=) c.2060G= (p.Trp687=) c.2390G= (p.Trp797=) c.*756G= (n.*756G=) | |
| 4 | g.99619065G>T | CA357518447 | MTTP | c.2309G>T (p.Trp770Leu) c.2060G>T (p.Trp687Leu) c.2390G>T (p.Trp797Leu) c.*756G>T (n.*756G>T) | |
| 4 | g.99619066G>A | CA357518449 | MTTP | c.2310G>A (p.Trp770Ter) c.2061G>A (p.Trp687Ter) c.2391G>A (p.Trp797Ter) c.*757G>A (n.*757G>A) | COSMIC |
| 4 | g.99619066G>C | CA357518451 | MTTP | c.2310G>C (p.Trp770Cys) c.2061G>C (p.Trp687Cys) c.2391G>C (p.Trp797Cys) c.*757G>C (n.*757G>C) | dbSNP |
| 4 | g.99619066G= | CA1480086503 | MTTP | c.2310G= (p.Trp770=) c.2061G= (p.Trp687=) c.2391G= (p.Trp797=) c.*757G= (n.*757G=) | |
| 4 | g.99619066G>T | CA357518453 | MTTP | c.2310G>T (p.Trp770Cys) c.2061G>T (p.Trp687Cys) c.2391G>T (p.Trp797Cys) c.*757G>T (n.*757G>T) | |
| 4 | g.99619067T>A | CA357518455 | MTTP | c.2311T>A (p.Tyr771Asn) c.2062T>A (p.Tyr688Asn) c.2392T>A (p.Tyr798Asn) c.*758T>A (n.*758T>A) | |
| 4 | g.99619067T>C | CA357518457 | MTTP | c.2311T>C (p.Tyr771His) c.2062T>C (p.Tyr688His) c.2392T>C (p.Tyr798His) c.*758T>C (n.*758T>C) | |
| 4 | g.99619067T>G | CA357518459 | MTTP | c.2311T>G (p.Tyr771Asp) c.2062T>G (p.Tyr688Asp) c.2392T>G (p.Tyr798Asp) c.*758T>G (n.*758T>G) | |
| 4 | g.99619068A>C | CA357518464 | MTTP | c.2312A>C (p.Tyr771Ser) c.2063A>C (p.Tyr688Ser) c.2393A>C (p.Tyr798Ser) c.*759A>C (n.*759A>C) | |
| 4 | g.99619068A>G | CA357518463 | MTTP | c.2312A>G (p.Tyr771Cys) c.2063A>G (p.Tyr688Cys) c.2393A>G (p.Tyr798Cys) c.*759A>G (n.*759A>G) | COSMIC |
| 4 | g.99619068A>T | CA357518461 | MTTP | c.2312A>T (p.Tyr771Phe) c.2063A>T (p.Tyr688Phe) c.2393A>T (p.Tyr798Phe) c.*759A>T (n.*759A>T) | gnomAD v4 |
| 4 | g.99619069T>A | CA357518466 | MTTP | c.2313T>A (p.Tyr771Ter) c.2064T>A (p.Tyr688Ter) c.2394T>A (p.Tyr798Ter) c.*760T>A (n.*760T>A) | |
| 4 | g.99619069T>C | CA440331446 | MTTP | c.2313T>C (p.Tyr771=) c.2064T>C (p.Tyr688=) c.2394T>C (p.Tyr798=) c.*760T>C (n.*760T>C) | ClinVar dbSNP gnomAD v4 COSMIC |
| 4 | g.99619069T>G | CA357518468 | MTTP | c.2313T>G (p.Tyr771Ter) c.2064T>G (p.Tyr688Ter) c.2394T>G (p.Tyr798Ter) c.*760T>G (n.*760T>G) | |
| 4 | g.99619069T= | CA1480086504 | MTTP | c.2313T= (p.Tyr771=) c.2064T= (p.Tyr688=) c.2394T= (p.Tyr798=) c.*760T= (n.*760T=) | |
| 4 | g.99619069_99619070delinsAA | CA2695203667 | MTTP | c.2313_2314delinsAA (p.Tyr771Ter) c.2064_2065delinsAA (p.Tyr688Ter) c.2394_2395delinsAA (p.Tyr798Ter) c.*760_*761delinsAA (n.*760_*761delinsAA) | |
| 4 | g.99619070C>A | CA357518470 | MTTP | c.2314C>A (p.Arg772Ser) c.2065C>A (p.Arg689Ser) c.2395C>A (p.Arg799Ser) c.*761C>A (n.*761C>A) | |
| 4 | g.99619070C= | CA1480086505 | MTTP | c.2314C= (p.Arg772=) c.2065C= (p.Arg689=) c.2395C= (p.Arg799=) c.*761C= (n.*761C=) | |
| 4 | g.99619070C>G | CA357518472 | MTTP | c.2314C>G (p.Arg772Gly) c.2065C>G (p.Arg689Gly) c.2395C>G (p.Arg799Gly) c.*761C>G (n.*761C>G) | |
| 4 | g.99619070C>T | CA357518474 | MTTP | c.2314C>T (p.Arg772Cys) c.2065C>T (p.Arg689Cys) c.2395C>T (p.Arg799Cys) c.*761C>T (n.*761C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99619071G>A | CA3022332 | MTTP | c.2315G>A (p.Arg772His) c.2066G>A (p.Arg689His) c.2396G>A (p.Arg799His) c.*762G>A (n.*762G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99619071G>C | CA357518478 | MTTP | c.2315G>C (p.Arg772Pro) c.2066G>C (p.Arg689Pro) c.2396G>C (p.Arg799Pro) c.*762G>C (n.*762G>C) | gnomAD v4 |
| 4 | g.99619071G= | CA1480086506 | MTTP | c.2315G= (p.Arg772=) c.2066G= (p.Arg689=) c.2396G= (p.Arg799=) c.*762G= (n.*762G=) | |
| 4 | g.99619071G>T | CA357518479 | MTTP | c.2315G>T (p.Arg772Leu) c.2066G>T (p.Arg689Leu) c.2396G>T (p.Arg799Leu) c.*762G>T (n.*762G>T) | |
| 4 | g.99619072T>A | CA440331450 | MTTP | c.2316T>A (p.Arg772=) c.2067T>A (p.Arg689=) c.2397T>A (p.Arg799=) c.*763T>A (n.*763T>A) | dbSNP |
| 4 | g.99619072T>C | CA440331451 | MTTP | c.2316T>C (p.Arg772=) c.2067T>C (p.Arg689=) c.2397T>C (p.Arg799=) c.*763T>C (n.*763T>C) | gnomAD v4 |
| 4 | g.99619072T>G | CA440331452 | MTTP | c.2316T>G (p.Arg772=) c.2067T>G (p.Arg689=) c.2397T>G (p.Arg799=) c.*763T>G (n.*763T>G) | |
| 4 | g.99619072T= | CA1480086507 | MTTP | c.2316T= (p.Arg772=) c.2067T= (p.Arg689=) c.2397T= (p.Arg799=) c.*763T= (n.*763T=) | |
| 4 | g.99619073G>A | CA357518480 | MTTP | c.2317G>A (p.Glu773Lys) c.2068G>A (p.Glu690Lys) c.2398G>A (p.Glu800Lys) c.*764G>A (n.*764G>A) | gnomAD v4 |
| 4 | g.99619073G>C | CA357518483 | MTTP | c.2317G>C (p.Glu773Gln) c.2068G>C (p.Glu690Gln) c.2398G>C (p.Glu800Gln) c.*764G>C (n.*764G>C) | |
| 4 | g.99619073G>T | CA357518485 | MTTP | c.2317G>T (p.Glu773Ter) c.2068G>T (p.Glu690Ter) c.2398G>T (p.Glu800Ter) c.*764G>T (n.*764G>T) | |
| 4 | g.99619074A>C | CA357518487 | MTTP | c.2318A>C (p.Glu773Ala) c.2069A>C (p.Glu690Ala) c.2399A>C (p.Glu800Ala) c.*765A>C (n.*765A>C) | |
| 4 | g.99619074A>G | CA357518488 | MTTP | c.2318A>G (p.Glu773Gly) c.2069A>G (p.Glu690Gly) c.2399A>G (p.Glu800Gly) c.*765A>G (n.*765A>G) | |
| 4 | g.99619074A>T | CA357518490 | MTTP | c.2318A>T (p.Glu773Val) c.2069A>T (p.Glu690Val) c.2399A>T (p.Glu800Val) c.*765A>T (n.*765A>T) | |
| 4 | g.99619075G>A | CA440331457 | MTTP | c.2319G>A (p.Glu773=) c.2070G>A (p.Glu690=) c.2400G>A (p.Glu800=) c.*766G>A (n.*766G>A) | |
| 4 | g.99619075G>C | CA357518492 | MTTP | c.2319G>C (p.Glu773Asp) c.2070G>C (p.Glu690Asp) c.2400G>C (p.Glu800Asp) c.*766G>C (n.*766G>C) | |
| 4 | g.99619075G>T | CA357518493 | MTTP | c.2319G>T (p.Glu773Asp) c.2070G>T (p.Glu690Asp) c.2400G>T (p.Glu800Asp) c.*766G>T (n.*766G>T) | |
| 4 | g.99619076T>A | CA357518496 | MTTP | c.2320T>A (p.Ser774Thr) c.2071T>A (p.Ser691Thr) c.2401T>A (p.Ser801Thr) c.*767T>A (n.*767T>A) | |
| 4 | g.99619076T>C | CA357518497 | MTTP | c.2320T>C (p.Ser774Pro) c.2071T>C (p.Ser691Pro) c.2401T>C (p.Ser801Pro) c.*767T>C (n.*767T>C) | |
| 4 | g.99619076T>G | CA3022333 | MTTP | c.2320T>G (p.Ser774Ala) c.2071T>G (p.Ser691Ala) c.2401T>G (p.Ser801Ala) c.*767T>G (n.*767T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99619076T= | CA1480086508 | MTTP | c.2320T= (p.Ser774=) c.2071T= (p.Ser691=) c.2401T= (p.Ser801=) c.*767T= (n.*767T=) | |
| 4 | g.99619077C>A | CA357518499 | MTTP | c.2321C>A (p.Ser774Tyr) c.2072C>A (p.Ser691Tyr) c.2402C>A (p.Ser801Tyr) c.*768C>A (n.*768C>A) | |
| 4 | g.99619077C>G | CA357518501 | MTTP | c.2321C>G (p.Ser774Cys) c.2072C>G (p.Ser691Cys) c.2402C>G (p.Ser801Cys) c.*768C>G (n.*768C>G) | |
| 4 | g.99619077C>T | CA357518503 | MTTP | c.2321C>T (p.Ser774Phe) c.2072C>T (p.Ser691Phe) c.2402C>T (p.Ser801Phe) c.*768C>T (n.*768C>T) | gnomAD v4 |
| 4 | g.99619078T>A | CA440331462 | MTTP | c.2322T>A (p.Ser774=) c.2073T>A (p.Ser691=) c.2403T>A (p.Ser801=) c.*769T>A (n.*769T>A) | |
| 4 | g.99619078T>C | CA440331463 | MTTP | c.2322T>C (p.Ser774=) c.2073T>C (p.Ser691=) c.2403T>C (p.Ser801=) c.*769T>C (n.*769T>C) | |
| 4 | g.99619078T>G | CA440331464 | MTTP | c.2322T>G (p.Ser774=) c.2073T>G (p.Ser691=) c.2403T>G (p.Ser801=) c.*769T>G (n.*769T>G) | |
| 4 | g.99619079A= | CA1480086509 | MTTP | c.2323A= (p.Lys775=) c.2074A= (p.Lys692=) c.2404A= (p.Lys802=) c.*770A= (n.*770A=) | |
| 4 | g.99619079A>C | CA357518505 | MTTP | c.2323A>C (p.Lys775Gln) c.2074A>C (p.Lys692Gln) c.2404A>C (p.Lys802Gln) c.*770A>C (n.*770A>C) | |
| 4 | g.99619079A>G | CA102649460 | MTTP | c.2323A>G (p.Lys775Glu) c.2074A>G (p.Lys692Glu) c.2404A>G (p.Lys802Glu) c.*770A>G (n.*770A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99619079A>T | CA357518507 | MTTP | c.2323A>T (p.Lys775Ter) c.2074A>T (p.Lys692Ter) c.2404A>T (p.Lys802Ter) c.*770A>T (n.*770A>T) | |
| 4 | g.99619080A>C | CA357518509 | MTTP | c.2324A>C (p.Lys775Thr) c.2075A>C (p.Lys692Thr) c.2405A>C (p.Lys802Thr) c.*771A>C (n.*771A>C) | |
| 4 | g.99619080A>G | CA357518512 | MTTP | c.2324A>G (p.Lys775Arg) c.2075A>G (p.Lys692Arg) c.2405A>G (p.Lys802Arg) c.*771A>G (n.*771A>G) | |
| 4 | g.99619080A>T | CA357518513 | MTTP | c.2324A>T (p.Lys775Ile) c.2075A>T (p.Lys692Ile) c.2405A>T (p.Lys802Ile) c.*771A>T (n.*771A>T) | |
| 4 | g.99619081A>C | CA357518517 | MTTP | c.2325A>C (p.Lys775Asn) c.2076A>C (p.Lys692Asn) c.2406A>C (p.Lys802Asn) c.*772A>C (n.*772A>C) | |
| 4 | g.99619081A>G | CA440331471 | MTTP | c.2325A>G (p.Lys775=) c.2076A>G (p.Lys692=) c.2406A>G (p.Lys802=) c.*772A>G (n.*772A>G) | ClinVar dbSNP |
| 4 | g.99619081A>T | CA357518515 | MTTP | c.2325A>T (p.Lys775Asn) c.2076A>T (p.Lys692Asn) c.2406A>T (p.Lys802Asn) c.*772A>T (n.*772A>T) | |
| 4 | g.99619082A>C | CA357518519 | MTTP | c.2326A>C (p.Thr776Pro) c.2077A>C (p.Thr693Pro) c.2407A>C (p.Thr803Pro) c.*773A>C (n.*773A>C) | |
| 4 | g.99619082A>G | CA357518522 | MTTP | c.2326A>G (p.Thr776Ala) c.2077A>G (p.Thr693Ala) c.2407A>G (p.Thr803Ala) c.*773A>G (n.*773A>G) | gnomAD v4 |
| 4 | g.99619082A>T | CA357518520 | MTTP | c.2326A>T (p.Thr776Ser) c.2077A>T (p.Thr693Ser) c.2407A>T (p.Thr803Ser) c.*773A>T (n.*773A>T) | |
| 4 | g.99619083C>A | CA102649470 | MTTP | c.2327C>A (p.Thr776Asn) c.2078C>A (p.Thr693Asn) c.2408C>A (p.Thr803Asn) c.*774C>A (n.*774C>A) | dbSNP |
| 4 | g.99619083C= | CA1480086510 | MTTP | c.2327C= (p.Thr776=) c.2078C= (p.Thr693=) c.2408C= (p.Thr803=) c.*774C= (n.*774C=) | |
| 4 | g.99619083C>G | CA357518525 | MTTP | c.2327C>G (p.Thr776Ser) c.2078C>G (p.Thr693Ser) c.2408C>G (p.Thr803Ser) c.*774C>G (n.*774C>G) | |
| 4 | g.99619083C>T | CA357518527 | MTTP | c.2327C>T (p.Thr776Ile) c.2078C>T (p.Thr693Ile) c.2408C>T (p.Thr803Ile) c.*774C>T (n.*774C>T) | dbSNP gnomAD v2 |
| 4 | g.99619084C>A | CA440331472 | MTTP | c.2328C>A (p.Thr776=) c.2079C>A (p.Thr693=) c.2409C>A (p.Thr803=) c.*775C>A (n.*775C>A) | |
| 4 | g.99619084C>G | CA440331473 | MTTP | c.2328C>G (p.Thr776=) c.2079C>G (p.Thr693=) c.2409C>G (p.Thr803=) c.*775C>G (n.*775C>G) | |
| 4 | g.99619084C>T | CA440331474 | MTTP | c.2328C>T (p.Thr776=) c.2079C>T (p.Thr693=) c.2409C>T (p.Thr803=) c.*775C>T (n.*775C>T) | |
| 4 | g.99619085C>A | CA3022334 | MTTP | c.2329C>A (p.Arg777=) c.2080C>A (p.Arg694=) c.2410C>A (p.Arg804=) c.*776C>A (n.*776C>A) | ClinVar dbSNP ExAC gnomAD v4 |
| 4 | g.99619085C= | CA1480086511 | MTTP | c.2329C= (p.Arg777=) c.2080C= (p.Arg694=) c.2410C= (p.Arg804=) c.*776C= (n.*776C=) | |
| 4 | g.99619085C>G | CA357518529 | MTTP | c.2329C>G (p.Arg777Gly) c.2080C>G (p.Arg694Gly) c.2410C>G (p.Arg804Gly) c.*776C>G (n.*776C>G) | |
| 4 | g.99619085C>T | CA357518531 | MTTP | c.2329C>T (p.Arg777Ter) c.2080C>T (p.Arg694Ter) c.2410C>T (p.Arg804Ter) c.*776C>T (n.*776C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.99619086G>A | CA3022335 | MTTP | c.2330G>A (p.Arg777Gln) c.2081G>A (p.Arg694Gln) c.2411G>A (p.Arg804Gln) c.*777G>A (n.*777G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99619086G>C | CA357518534 | MTTP | c.2330G>C (p.Arg777Pro) c.2081G>C (p.Arg694Pro) c.2411G>C (p.Arg804Pro) c.*777G>C (n.*777G>C) | |
| 4 | g.99619086G= | CA1480086512 | MTTP | c.2330G= (p.Arg777=) c.2081G= (p.Arg694=) c.2411G= (p.Arg804=) c.*777G= (n.*777G=) | |
| 4 | g.99619086G>T | CA357518535 | MTTP | c.2330G>T (p.Arg777Leu) c.2081G>T (p.Arg694Leu) c.2411G>T (p.Arg804Leu) c.*777G>T (n.*777G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99619087A>C | CA440331484 | MTTP | c.2331A>C (p.Arg777=) c.2082A>C (p.Arg694=) c.2412A>C (p.Arg804=) c.*778A>C (n.*778A>C) | |
| 4 | g.99619087A>G | CA440331481 | MTTP | c.2331A>G (p.Arg777=) c.2082A>G (p.Arg694=) c.2412A>G (p.Arg804=) c.*778A>G (n.*778A>G) | |
| 4 | g.99619087A>T | CA440331480 | MTTP | c.2331A>T (p.Arg777=) c.2082A>T (p.Arg694=) c.2412A>T (p.Arg804=) c.*778A>T (n.*778A>T) | |
| 4 | g.99619088G>A | CA357518538 | MTTP | c.2332G>A (p.Val778Met) c.2083G>A (p.Val695Met) c.2413G>A (p.Val805Met) c.*779G>A (n.*779G>A) | |
| 4 | g.99619088G>C | CA357518539 | MTTP | c.2332G>C (p.Val778Leu) c.2083G>C (p.Val695Leu) c.2413G>C (p.Val805Leu) c.*779G>C (n.*779G>C) | gnomAD v4 |
| 4 | g.99619088G>T | CA357518541 | MTTP | c.2332G>T (p.Val778Leu) c.2083G>T (p.Val695Leu) c.2413G>T (p.Val805Leu) c.*779G>T (n.*779G>T) | |
| 4 | g.99619089T>A | CA357518548 | MTTP | c.2333T>A (p.Val778Glu) c.2084T>A (p.Val695Glu) c.2414T>A (p.Val805Glu) c.*780T>A (n.*780T>A) | |
| 4 | g.99619089T>C | CA357518545 | MTTP | c.2333T>C (p.Val778Ala) c.2084T>C (p.Val695Ala) c.2414T>C (p.Val805Ala) c.*780T>C (n.*780T>C) | gnomAD v4 |
| 4 | g.99619089T>G | CA357518547 | MTTP | c.2333T>G (p.Val778Gly) c.2084T>G (p.Val695Gly) c.2414T>G (p.Val805Gly) c.*780T>G (n.*780T>G) | |
| 4 | g.99619090G>A | CA440331488 | MTTP | c.2334G>A (p.Val778=) c.2085G>A (p.Val695=) c.2415G>A (p.Val805=) c.*781G>A (n.*781G>A) | |
| 4 | g.99619090G>C | CA440331489 | MTTP | c.2334G>C (p.Val778=) c.2085G>C (p.Val695=) c.2415G>C (p.Val805=) c.*781G>C (n.*781G>C) | |
| 4 | g.99619090G>T | CA440331490 | MTTP | c.2334G>T (p.Val778=) c.2085G>T (p.Val695=) c.2415G>T (p.Val805=) c.*781G>T (n.*781G>T) | |
| 4 | g.99619091A>C | CA357518551 | MTTP | c.2335A>C (p.Lys779Gln) c.2086A>C (p.Lys696Gln) c.2416A>C (p.Lys806Gln) c.*782A>C (n.*782A>C) | |
| 4 | g.99619091A>G | CA357518552 | MTTP | c.2335A>G (p.Lys779Glu) c.2086A>G (p.Lys696Glu) c.2416A>G (p.Lys806Glu) c.*782A>G (n.*782A>G) | |
| 4 | g.99619091A>T | CA357518554 | MTTP | c.2335A>T (p.Lys779Ter) c.2086A>T (p.Lys696Ter) c.2416A>T (p.Lys806Ter) c.*782A>T (n.*782A>T) | ClinVar dbSNP |
| 4 | g.99619092A>C | CA357518556 | MTTP | c.2336A>C (p.Lys779Thr) c.2087A>C (p.Lys696Thr) c.2417A>C (p.Lys806Thr) c.*783A>C (n.*783A>C) | |
| 4 | g.99619092A>G | CA357518557 | MTTP | c.2336A>G (p.Lys779Arg) c.2087A>G (p.Lys696Arg) c.2417A>G (p.Lys806Arg) c.*783A>G (n.*783A>G) | |
| 4 | g.99619092A>T | CA357518559 | MTTP | c.2336A>T (p.Lys779Ile) c.2087A>T (p.Lys696Ile) c.2417A>T (p.Lys806Ile) c.*783A>T (n.*783A>T) | |
| 4 | g.99619093A>C | CA357518561 | MTTP | c.2337A>C (p.Lys779Asn) c.2088A>C (p.Lys696Asn) c.2418A>C (p.Lys806Asn) c.*784A>C (n.*784A>C) | |
| 4 | g.99619093A>G | CA440331493 | MTTP | c.2337A>G (p.Lys779=) c.2088A>G (p.Lys696=) c.2418A>G (p.Lys806=) c.*784A>G (n.*784A>G) | |
| 4 | g.99619093A>T | CA357518563 | MTTP | c.2337A>T (p.Lys779Asn) c.2088A>T (p.Lys696Asn) c.2418A>T (p.Lys806Asn) c.*784A>T (n.*784A>T) | |
| 4 | g.99619094A= | CA1480086513 | MTTP | c.2338A= (p.Asn780=) c.2089A= (p.Asn697=) c.2419A= (p.Asn807=) c.*785A= (n.*785A=) | |
| 4 | g.99619094A>C | CA357518565 | MTTP | c.2338A>C (p.Asn780His) c.2089A>C (p.Asn697His) c.2419A>C (p.Asn807His) c.*785A>C (n.*785A>C) | |
| 4 | g.99619094A>G | CA357518567 | MTTP | c.2338A>G (p.Asn780Asp) c.2089A>G (p.Asn697Asp) c.2419A>G (p.Asn807Asp) c.*785A>G (n.*785A>G) | |
| 4 | g.99619094A>T | CA123821 | MTTP | c.2338A>T (p.Asn780Tyr) c.2089A>T (p.Asn697Tyr) c.2419A>T (p.Asn807Tyr) c.*785A>T (n.*785A>T) | ClinVar dbSNP |