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 |
|---|---|---|---|---|---|
| MT | m.5774_14768del | CA2580610836 | |||
| MT | m.5780_14107del | CA2580610932 | |||
| MT | m.5782_13922del | CA250413 | ClinVar | ||
| MT | m.5788_13923del | CA2580618295 | |||
| MT | m.5794_14876del | CA250414 | ClinVar | ||
| MT | m.6470_15588del | CA645373332 | ClinVar | ||
| MT | m.7129_13991del | CA645373333 | ClinVar | ||
| MT | m.8290_13040del | CA645373335 | ClinVar | ||
| MT | m.8350_13450del | CA915952048 | ClinVar | ||
| MT | m.8483_13459del | CA645373336 | ClinVar | ||
| MT | m.8480_13440del | CA915952050 | ClinVar | ||
| MT | m.8587_12967del | CA645373337 | ClinVar | ||
| MT | m.8815_13722del | CA645373338 | ClinVar | ||
| MT | m.8839_14895del | CA645373339 | ClinVar | ||
| MT | m.9062_16052del | CA2580618296 | |||
| MT | m.10106_15067del | CA645373340 | ClinVar | ||
| MT | m.10775_14941del | CA2740090229 | ClinVar | ||
| MT | m.10950_15540del | CA2580102079 | ClinVar | ||
| MT | m.11263_15374del | CA645373341 | ClinVar | ||
| MT | m.11989_11990del | CA2573105227 | MT-ND4 | c.1230_1231del (p.Phe411TyrfsTer13) | |
| MT | m.11990T>A | CA414811980 | MT-ND4 | c.1231T>A (p.Phe411Ile) | |
| MT | m.11990T>C | CA414811982 | MT-ND4 | c.1231T>C (p.Phe411Leu) | ClinVar dbSNP |
| MT | m.11990T>G | CA414811984 | MT-ND4 | c.1231T>G (p.Phe411Val) | |
| MT | m.11990T= | CA2499567361 | MT-ND4 | c.1231T= (p.Phe411=) | |
| MT | m.11991T>A | CA414811986 | MT-ND4 | c.1232T>A (p.Phe411Tyr) | |
| MT | m.11991T>C | CA414811988 | MT-ND4 | c.1232T>C (p.Phe411Ser) | COSMIC |
| MT | m.11991T>G | CA414811990 | MT-ND4 | c.1232T>G (p.Phe411Cys) | |
| MT | m.11991T= | CA2573328694 | MT-ND4 | c.1232T= (p.Phe411=) | |
| MT | m.11992T>A | CA414811994 | MT-ND4 | c.1233T>A (p.Phe411Leu) | |
| MT | m.11992T>C | CA645611413 | MT-ND4 | c.1233T>C (p.Phe411=) | dbSNP COSMIC COSMIC |
| MT | m.11992T>G | CA414811993 | MT-ND4 | c.1233T>G (p.Phe411Leu) | |
| MT | m.11992T= | CA2499567362 | MT-ND4 | c.1233T= (p.Phe411=) | |
| MT | m.11993A= | CA2573328698 | MT-ND4 | c.1234A= (p.Thr412=) | |
| MT | m.11993A>C | CA414811997 | MT-ND4 | c.1234A>C (p.Thr412Pro) | |
| MT | m.11993A>G | CA414812000 | MT-ND4 | c.1234A>G (p.Thr412Ala) | |
| MT | m.11993A>T | CA414811998 | MT-ND4 | c.1234A>T (p.Thr412Ser) | |
| MT | m.11994C>A | CA414812003 | MT-ND4 | c.1235C>A (p.Thr412Asn) | |
| MT | m.11994C= | CA2573328699 | MT-ND4 | c.1235C= (p.Thr412=) | |
| MT | m.11994C>G | CA414812004 | MT-ND4 | c.1235C>G (p.Thr412Ser) | |
| MT | m.11994C>T | CA414812006 | MT-ND4 | c.1235C>T (p.Thr412Ile) | |
| MT | m.11994_11995insAAGAG | CA2740098354 | MT-ND4 | c.1235_1236insAAGAG (p.Thr413ArgfsTer16) | |
| MT | m.11995C>A | CA913169268 | MT-ND4 | c.1236C>A (p.Thr412=) | |
| MT | m.11995C= | CA2499567363 | MT-ND4 | c.1236C= (p.Thr412=) | |
| MT | m.11995C>G | CA913169267 | MT-ND4 | c.1236C>G (p.Thr412=) | |
| MT | m.11995C>T | CA913169266 | MT-ND4 | c.1236C>T (p.Thr412=) | dbSNP |
| MT | m.11996A= | CA2573328700 | MT-ND4 | c.1237A= (p.Thr413=) | |
| MT | m.11996A>C | CA414812009 | MT-ND4 | c.1237A>C (p.Thr413Pro) | |
| MT | m.11996A>G | CA414812011 | MT-ND4 | c.1237A>G (p.Thr413Ala) | |
| MT | m.11996A>T | CA414812012 | MT-ND4 | c.1237A>T (p.Thr413Ser) | |
| MT | m.11997C>A | CA414812015 | MT-ND4 | c.1238C>A (p.Thr413Lys) | |
| MT | m.11997C= | CA2573328703 | MT-ND4 | c.1238C= (p.Thr413=) | |
| MT | m.11997C>G | CA414812017 | MT-ND4 | c.1238C>G (p.Thr413Arg) | |
| MT | m.11997C>T | CA414812019 | MT-ND4 | c.1238C>T (p.Thr413Ile) | |
| MT | m.11998A= | CA2573328704 | MT-ND4 | c.1239A= (p.Thr413=) | |
| MT | m.11998A>C | CA913169270 | MT-ND4 | c.1239A>C (p.Thr413=) | |
| MT | m.11998A>G | CA913169269 | MT-ND4 | c.1239A>G (p.Thr413=) | |
| MT | m.11998A>T | CA913169271 | MT-ND4 | c.1239A>T (p.Thr413=) | |
| MT | m.11999A= | CA2573328707 | MT-ND4 | c.1240A= (p.Thr414=) | |
| MT | m.11999A>C | CA414812021 | MT-ND4 | c.1240A>C (p.Thr414Pro) | |
| MT | m.11999A>G | CA414812023 | MT-ND4 | c.1240A>G (p.Thr414Ala) | |
| MT | m.11999A>T | CA414812025 | MT-ND4 | c.1240A>T (p.Thr414Ser) | |
| MT | m.12000C>A | CA414812027 | MT-ND4 | c.1241C>A (p.Thr414Lys) | |
| MT | m.12000C= | CA2573328709 | MT-ND4 | c.1241C= (p.Thr414=) | |
| MT | m.12000C>G | CA414812031 | MT-ND4 | c.1241C>G (p.Thr414Arg) | |
| MT | m.12000C>T | CA414812029 | MT-ND4 | c.1241C>T (p.Thr414Ile) | |
| MT | m.12001A= | CA2573328711 | MT-ND4 | c.1242A= (p.Thr414=) | |
| MT | m.12001A>C | CA913169278 | MT-ND4 | c.1242A>C (p.Thr414=) | dbSNP |
| MT | m.12001A>G | CA913169277 | MT-ND4 | c.1242A>G (p.Thr414=) | |
| MT | m.12001A>T | CA913169276 | MT-ND4 | c.1242A>T (p.Thr414=) | |
| MT | m.12002C>A | CA414812033 | MT-ND4 | c.1243C>A (p.Gln415Lys) | |
| MT | m.12002C= | CA2573328712 | MT-ND4 | c.1243C= (p.Gln415=) | |
| MT | m.12002C>G | CA414812035 | MT-ND4 | c.1243C>G (p.Gln415Glu) | |
| MT | m.12002C>T | CA414812037 | MT-ND4 | c.1243C>T (p.Gln415Ter) | |
| MT | m.12003A= | CA2573328715 | MT-ND4 | c.1244A= (p.Gln415=) | |
| MT | m.12003A>C | CA414812039 | MT-ND4 | c.1244A>C (p.Gln415Pro) | |
| MT | m.12003A>G | CA414812041 | MT-ND4 | c.1244A>G (p.Gln415Arg) | |
| MT | m.12003A>T | CA414812043 | MT-ND4 | c.1244A>T (p.Gln415Leu) | |
| MT | m.12004A= | CA2499567364 | MT-ND4 | c.1245A= (p.Gln415=) | |
| MT | m.12004A>C | CA414812045 | MT-ND4 | c.1245A>C (p.Gln415His) | |
| MT | m.12004A>G | CA913169281 | MT-ND4 | c.1245A>G (p.Gln415=) | dbSNP |
| MT | m.12004A>T | CA414812047 | MT-ND4 | c.1245A>T (p.Gln415His) | |
| MT | m.12005T>A | CA414812053 | MT-ND4 | c.1246T>A (p.Trp416Arg) | |
| MT | m.12005T>C | CA414812051 | MT-ND4 | c.1246T>C (p.Trp416Arg) | COSMIC COSMIC |
| MT | m.12005T>G | CA414812049 | MT-ND4 | c.1246T>G (p.Trp416Gly) | |
| MT | m.12005T= | CA2573328719 | MT-ND4 | c.1246T= (p.Trp416=) | |
| MT | m.12006G>A | CA414812056 | MT-ND4 | c.1247G>A (p.Trp416Ter) | dbSNP |
| MT | m.12006G>C | CA414812057 | MT-ND4 | c.1247G>C (p.Trp416Ser) | |
| MT | m.12006G= | CA2499567365 | MT-ND4 | c.1247G= (p.Trp416=) | |
| MT | m.12006G>T | CA414812059 | MT-ND4 | c.1247G>T (p.Trp416Leu) | |
| MT | m.12007G>A | CA337099365 | MT-ND4 | c.1248G>A (p.Trp416Ter) | ClinVar dbSNP |
| MT | m.12007G>C | CA414812062 | MT-ND4 | c.1248G>C (p.Trp416Cys) | |
| MT | m.12007G= | CA2499567366 | MT-ND4 | c.1248G= (p.Trp416=) | |
| MT | m.12007G>T | CA414812064 | MT-ND4 | c.1248G>T (p.Trp416Cys) | |
| MT | m.12008G>A | CA414812067 | MT-ND4 | c.1249G>A (p.Gly417Ser) | dbSNP |
| MT | m.12008G>C | CA414812068 | MT-ND4 | c.1249G>C (p.Gly417Arg) | |
| MT | m.12008G= | CA2499567367 | MT-ND4 | c.1249G= (p.Gly417=) | |
| MT | m.12008G>T | CA414812070 | MT-ND4 | c.1249G>T (p.Gly417Cys) | |
| MT | m.12009G>A | CA414812073 | MT-ND4 | c.1250G>A (p.Gly417Asp) | COSMIC COSMIC |
| MT | m.12009G>C | CA414812074 | MT-ND4 | c.1250G>C (p.Gly417Ala) | |
| MT | m.12009G= | CA2573328722 | MT-ND4 | c.1250G= (p.Gly417=) | |
| MT | m.12009G>T | CA414812076 | MT-ND4 | c.1250G>T (p.Gly417Val) | |
| MT | m.12010C>A | CA913169287 | MT-ND4 | c.1251C>A (p.Gly417=) | |
| MT | m.12010C= | CA2499567368 | MT-ND4 | c.1251C= (p.Gly417=) | |
| MT | m.12010C>G | CA913169288 | MT-ND4 | c.1251C>G (p.Gly417=) | |
| MT | m.12010C>T | CA16040632 | MT-ND4 | c.1251C>T (p.Gly417=) | ClinVar dbSNP |
| MT | m.12015_12018del | CA2740098355 | MT-ND4 | c.1256_1259del (p.Leu419ProfsTer7) | |
| MT | m.12011T>A | CA414812081 | MT-ND4 | c.1252T>A (p.Ser418Thr) | |
| MT | m.12011T>C | CA337099368 | MT-ND4 | c.1252T>C (p.Ser418Pro) | ClinVar dbSNP |
| MT | m.12011T>G | CA414812083 | MT-ND4 | c.1252T>G (p.Ser418Ala) | ClinVar dbSNP |
| MT | m.12011T= | CA2499567369 | MT-ND4 | c.1252T= (p.Ser418=) | |
| MT | m.12012C>A | CA414812086 | MT-ND4 | c.1253C>A (p.Ser418Ter) | |
| MT | m.12012C= | CA2573328730 | MT-ND4 | c.1253C= (p.Ser418=) | |
| MT | m.12012C>G | CA414812088 | MT-ND4 | c.1253C>G (p.Ser418Ter) | |
| MT | m.12012C>T | CA414812089 | MT-ND4 | c.1253C>T (p.Ser418Leu) | |
| MT | m.12013A= | CA2499567370 | MT-ND4 | c.1254A= (p.Ser418=) | |
| MT | m.12013A>C | CA913169296 | MT-ND4 | c.1254A>C (p.Ser418=) | |
| MT | m.12013A>G | CA16040633 | MT-ND4 | c.1254A>G (p.Ser418=) | ClinVar dbSNP |
| MT | m.12013A>T | CA913169291 | MT-ND4 | c.1254A>T (p.Ser418=) | |
| MT | m.12014C>A | CA414812093 | MT-ND4 | c.1255C>A (p.Leu419Ile) | |
| MT | m.12014C= | CA2499567371 | MT-ND4 | c.1255C= (p.Leu419=) | |
| MT | m.12014C>G | CA414812094 | MT-ND4 | c.1255C>G (p.Leu419Val) | |
| MT | m.12014C>T | CA414812096 | MT-ND4 | c.1255C>T (p.Leu419Phe) | ClinVar dbSNP |
| MT | m.12015T>A | CA414812099 | MT-ND4 | c.1256T>A (p.Leu419His) | |
| MT | m.12015T>C | CA414812101 | MT-ND4 | c.1256T>C (p.Leu419Pro) | ClinVar dbSNP COSMIC |
| MT | m.12015T>G | CA414812103 | MT-ND4 | c.1256T>G (p.Leu419Arg) | |
| MT | m.12015T= | CA2499567372 | MT-ND4 | c.1256T= (p.Leu419=) | |
| MT | m.12016C>A | CA913169301 | MT-ND4 | c.1257C>A (p.Leu419=) | |
| MT | m.12016C= | CA2573328734 | MT-ND4 | c.1257C= (p.Leu419=) | |
| MT | m.12016C>G | CA913169303 | MT-ND4 | c.1257C>G (p.Leu419=) | |
| MT | m.12016C>T | CA913169302 | MT-ND4 | c.1257C>T (p.Leu419=) | |
| MT | m.12017A= | CA2499567373 | MT-ND4 | c.1258A= (p.Thr420=) | |
| MT | m.12017A>C | CA414812108 | MT-ND4 | c.1258A>C (p.Thr420Pro) | |
| MT | m.12017A>G | CA337099371 | MT-ND4 | c.1258A>G (p.Thr420Ala) | ClinVar dbSNP |
| MT | m.12017A>T | CA414812105 | MT-ND4 | c.1258A>T (p.Thr420Ser) | |
| MT | m.12017_12018insTTA | CA2740098356 | MT-ND4 | c.1258_1259insTTA (p.Leu419_Thr420insIle) | |
| MT | m.12018C>A | CA414812112 | MT-ND4 | c.1259C>A (p.Thr420Asn) | |
| MT | m.12018C= | CA2499567374 | MT-ND4 | c.1259C= (p.Thr420=) | |
| MT | m.12018C>G | CA16040634 | MT-ND4 | c.1259C>G (p.Thr420Ser) | ClinVar dbSNP |
| MT | m.12018C>T | CA414812113 | MT-ND4 | c.1259C>T (p.Thr420Ile) | |
| MT | m.12019C>A | CA913169305 | MT-ND4 | c.1260C>A (p.Thr420=) | |
| MT | m.12019C= | CA2499567375 | MT-ND4 | c.1260C= (p.Thr420=) | |
| MT | m.12019C>G | CA913169307 | MT-ND4 | c.1260C>G (p.Thr420=) | |
| MT | m.12019C>T | CA913169308 | MT-ND4 | c.1260C>T (p.Thr420=) | dbSNP |
| MT | m.12020C>A | CA414812116 | MT-ND4 | c.1261C>A (p.His421Asn) | |
| MT | m.12020C= | CA2499567376 | MT-ND4 | c.1261C= (p.His421=) | |
| MT | m.12020C>G | CA414812119 | MT-ND4 | c.1261C>G (p.His421Asp) | |
| MT | m.12020C>T | CA414812118 | MT-ND4 | c.1261C>T (p.His421Tyr) | ClinVar dbSNP |
| MT | m.12021A= | CA2499567377 | MT-ND4 | c.1262A= (p.His421=) | |
| MT | m.12021A>C | CA414812122 | MT-ND4 | c.1262A>C (p.His421Pro) | dbSNP |
| MT | m.12021A>G | CA414812124 | MT-ND4 | c.1262A>G (p.His421Arg) | |
| MT | m.12021A>T | CA414812125 | MT-ND4 | c.1262A>T (p.His421Leu) | |
| MT | m.12022C>A | CA414812128 | MT-ND4 | c.1263C>A (p.His421Gln) | |
| MT | m.12022C= | CA2573328744 | MT-ND4 | c.1263C= (p.His421=) | |
| MT | m.12022C>G | CA414812130 | MT-ND4 | c.1263C>G (p.His421Gln) | |
| MT | m.12022C>T | CA913169311 | MT-ND4 | c.1263C>T (p.His421=) | dbSNP |
| MT | m.12023C>A | CA414812132 | MT-ND4 | c.1264C>A (p.His422Asn) | |
| MT | m.12023C= | CA2573328746 | MT-ND4 | c.1264C= (p.His422=) | |
| MT | m.12023C>G | CA414812134 | MT-ND4 | c.1264C>G (p.His422Asp) | |
| MT | m.12023C>T | CA414812136 | MT-ND4 | c.1264C>T (p.His422Tyr) | |
| MT | m.12024A= | CA2573328750 | MT-ND4 | c.1265A= (p.His422=) | |
| MT | m.12024A>C | CA414812138 | MT-ND4 | c.1265A>C (p.His422Pro) | |
| MT | m.12024A>G | CA414812140 | MT-ND4 | c.1265A>G (p.His422Arg) | |
| MT | m.12024A>T | CA414812142 | MT-ND4 | c.1265A>T (p.His422Leu) | |
| MT | m.12025C>A | CA414812146 | MT-ND4 | c.1266C>A (p.His422Gln) | |
| MT | m.12025C= | CA2573328754 | MT-ND4 | c.1266C= (p.His422=) | |
| MT | m.12025C>G | CA414812144 | MT-ND4 | c.1266C>G (p.His422Gln) | |
| MT | m.12025C>T | CA913169313 | MT-ND4 | c.1266C>T (p.His422=) | |
| MT | m.12026A= | CA2499567378 | MT-ND4 | c.1267A= (p.Ile423=) | |
| MT | m.12026A>C | CA414812148 | MT-ND4 | c.1267A>C (p.Ile423Leu) | |
| MT | m.12026A>G | CA337099374 | MT-ND4 | c.1267A>G (p.Ile423Val) | ClinVar dbSNP |
| MT | m.12026A>T | CA414812151 | MT-ND4 | c.1267A>T (p.Ile423Phe) | |
| MT | m.12027T>A | CA414812153 | MT-ND4 | c.1268T>A (p.Ile423Asn) | |
| MT | m.12027T>C | CA414812155 | MT-ND4 | c.1268T>C (p.Ile423Thr) | dbSNP |
| MT | m.12027T>G | CA414812157 | MT-ND4 | c.1268T>G (p.Ile423Ser) | |
| MT | m.12027T= | CA2499567379 | MT-ND4 | c.1268T= (p.Ile423=) | |
| MT | m.12028T>A | CA913169318 | MT-ND4 | c.1269T>A (p.Ile423=) | |
| MT | m.12028T>C | CA913169316 | MT-ND4 | c.1269T>C (p.Ile423=) | dbSNP |
| MT | m.12028T>G | CA414812159 | MT-ND4 | c.1269T>G (p.Ile423Met) | |
| MT | m.12028T= | CA2499567380 | MT-ND4 | c.1269T= (p.Ile423=) | |
| MT | m.12029A= | CA2573328760 | MT-ND4 | c.1270A= (p.Asn424=) | |
| MT | m.12029A>C | CA414812161 | MT-ND4 | c.1270A>C (p.Asn424His) | |
| MT | m.12029A>G | CA414812163 | MT-ND4 | c.1270A>G (p.Asn424Asp) | |
| MT | m.12029A>T | CA414812165 | MT-ND4 | c.1270A>T (p.Asn424Tyr) | |
| MT | m.12030A= | CA2499567381 | MT-ND4 | c.1271A= (p.Asn424=) | |
| MT | m.12030A>C | CA414812171 | MT-ND4 | c.1271A>C (p.Asn424Thr) | |
| MT | m.12030A>G | CA414812169 | MT-ND4 | c.1271A>G (p.Asn424Ser) | ClinVar dbSNP |
| MT | m.12030A>T | CA414812168 | MT-ND4 | c.1271A>T (p.Asn424Ile) | |
| MT | m.12031C>A | CA414812174 | MT-ND4 | c.1272C>A (p.Asn424Lys) | ClinVar dbSNP |
| MT | m.12031C= | CA2499567382 | MT-ND4 | c.1272C= (p.Asn424=) | |
| MT | m.12031C>G | CA414812176 | MT-ND4 | c.1272C>G (p.Asn424Lys) | |
| MT | m.12031C>T | CA913169319 | MT-ND4 | c.1272C>T (p.Asn424=) | dbSNP |
| MT | m.12032A= | CA2573328765 | MT-ND4 | c.1273A= (p.Asn425=) | |
| MT | m.12032A>C | CA414812178 | MT-ND4 | c.1273A>C (p.Asn425His) | |
| MT | m.12032A>G | CA414812180 | MT-ND4 | c.1273A>G (p.Asn425Asp) | |
| MT | m.12032A>T | CA414812182 | MT-ND4 | c.1273A>T (p.Asn425Tyr) | |
| MT | m.12033A= | CA2499567383 | MT-ND4 | c.1274A= (p.Asn425=) | |
| MT | m.12033A>C | CA414812185 | MT-ND4 | c.1274A>C (p.Asn425Thr) | |
| MT | m.12033A>G | CA414812186 | MT-ND4 | c.1274A>G (p.Asn425Ser) | ClinVar dbSNP |
| MT | m.12033A>T | CA414812188 | MT-ND4 | c.1274A>T (p.Asn425Ile) | |
| MT | m.12034C>A | CA414812191 | MT-ND4 | c.1275C>A (p.Asn425Lys) | |
| MT | m.12034C= | CA2499567384 | MT-ND4 | c.1275C= (p.Asn425=) | |
| MT | m.12034C>G | CA414812192 | MT-ND4 | c.1275C>G (p.Asn425Lys) | |
| MT | m.12034C>T | CA913169324 | MT-ND4 | c.1275C>T (p.Asn425=) | dbSNP |
| MT | m.12035A= | CA2573328768 | MT-ND4 | c.1276A= (p.Ile426=) | |
| MT | m.12035A>C | CA414812195 | MT-ND4 | c.1276A>C (p.Ile426Leu) | |
| MT | m.12035A>G | CA414812197 | MT-ND4 | c.1276A>G (p.Ile426Val) | |
| MT | m.12035A>T | CA414812198 | MT-ND4 | c.1276A>T (p.Ile426Leu) | |
| MT | m.12036T>A | CA414812201 | MT-ND4 | c.1277T>A (p.Ile426Lys) | |
| MT | m.12036T>C | CA414812205 | MT-ND4 | c.1277T>C (p.Ile426Thr) | |
| MT | m.12036T>G | CA414812203 | MT-ND4 | c.1277T>G (p.Ile426Arg) | |
| MT | m.12036T= | CA2573328771 | MT-ND4 | c.1277T= (p.Ile426=) | |
| MT | m.12037A= | CA2573328772 | MT-ND4 | c.1278A= (p.Ile426=) | |
| MT | m.12037A>C | CA913169326 | MT-ND4 | c.1278A>C (p.Ile426=) | |
| MT | m.12037A>G | CA414812207 | MT-ND4 | c.1278A>G (p.Ile426Met) | |
| MT | m.12037A>T | CA913169325 | MT-ND4 | c.1278A>T (p.Ile426=) | |
| MT | m.12038A= | CA2573328775 | MT-ND4 | c.1279A= (p.Lys427=) | |
| MT | m.12038A>C | CA414812210 | MT-ND4 | c.1279A>C (p.Lys427Gln) | |
| MT | m.12038A>G | CA414812211 | MT-ND4 | c.1279A>G (p.Lys427Glu) | |
| MT | m.12038A>T | CA414812213 | MT-ND4 | c.1279A>T (p.Lys427Ter) | |
| MT | m.12039A= | CA2573328777 | MT-ND4 | c.1280A= (p.Lys427=) | |
| MT | m.12039A>C | CA414812215 | MT-ND4 | c.1280A>C (p.Lys427Thr) | |
| MT | m.12039A>G | CA414812217 | MT-ND4 | c.1280A>G (p.Lys427Arg) | |
| MT | m.12039A>T | CA414812219 | MT-ND4 | c.1280A>T (p.Lys427Ile) | |
| MT | m.12040A= | CA2499567385 | MT-ND4 | c.1281A= (p.Lys427=) | |
| MT | m.12040A>C | CA414812221 | MT-ND4 | c.1281A>C (p.Lys427Asn) | dbSNP |
| MT | m.12040A>G | CA913169330 | MT-ND4 | c.1281A>G (p.Lys427=) | dbSNP |
| MT | m.12040A>T | CA414812223 | MT-ND4 | c.1281A>T (p.Lys427Asn) | ClinVar dbSNP |
| MT | m.12041C>A | CA414812229 | MT-ND4 | c.1282C>A (p.Pro428Thr) | |
| MT | m.12041C= | CA2573328782 | MT-ND4 | c.1282C= (p.Pro428=) | |
| MT | m.12041C>G | CA414812227 | MT-ND4 | c.1282C>G (p.Pro428Ala) | |
| MT | m.12041C>T | CA414812226 | MT-ND4 | c.1282C>T (p.Pro428Ser) | |
| MT | m.12042C>A | CA414812232 | MT-ND4 | c.1283C>A (p.Pro428His) | |
| MT | m.12042C= | CA2573328785 | MT-ND4 | c.1283C= (p.Pro428=) | |
| MT | m.12042C>G | CA414812233 | MT-ND4 | c.1283C>G (p.Pro428Arg) | |
| MT | m.12042C>T | CA414812235 | MT-ND4 | c.1283C>T (p.Pro428Leu) | |
| MT | m.12043C>A | CA913169337 | MT-ND4 | c.1284C>A (p.Pro428=) | |
| MT | m.12043C= | CA2573328787 | MT-ND4 | c.1284C= (p.Pro428=) | |
| MT | m.12043C>G | CA913169336 | MT-ND4 | c.1284C>G (p.Pro428=) | |
| MT | m.12043C>T | CA913169335 | MT-ND4 | c.1284C>T (p.Pro428=) | |
| MT | m.12044T>A | CA414812238 | MT-ND4 | c.1285T>A (p.Ser429Thr) | |
| MT | m.12044T>C | CA414812239 | MT-ND4 | c.1285T>C (p.Ser429Pro) | |
| MT | m.12044T>G | CA414812241 | MT-ND4 | c.1285T>G (p.Ser429Ala) | |
| MT | m.12044T= | CA2573328789 | MT-ND4 | c.1285T= (p.Ser429=) | |
| MT | m.12045C>A | CA414812244 | MT-ND4 | c.1286C>A (p.Ser429Ter) | |
| MT | m.12045C= | CA2573328791 | MT-ND4 | c.1286C= (p.Ser429=) | |
| MT | m.12045C>G | CA414812245 | MT-ND4 | c.1286C>G (p.Ser429Ter) | |
| MT | m.12045C>T | CA414812247 | MT-ND4 | c.1286C>T (p.Ser429Leu) | |
| MT | m.12046A= | CA2573328793 | MT-ND4 | c.1287A= (p.Ser429=) | |
| MT | m.12046A>C | CA913169341 | MT-ND4 | c.1287A>C (p.Ser429=) | |
| MT | m.12046A>G | CA913169342 | MT-ND4 | c.1287A>G (p.Ser429=) | dbSNP |
| MT | m.12046A>T | CA913169343 | MT-ND4 | c.1287A>T (p.Ser429=) | |
| MT | m.12047T>A | CA414812250 | MT-ND4 | c.1288T>A (p.Phe430Ile) | |
| MT | m.12047T>C | CA414812252 | MT-ND4 | c.1288T>C (p.Phe430Leu) | dbSNP |
| MT | m.12047T>G | CA414812254 | MT-ND4 | c.1288T>G (p.Phe430Val) | |
| MT | m.12047T= | CA2573328795 | MT-ND4 | c.1288T= (p.Phe430=) | |
| MT | m.12048T>A | CA414812260 | MT-ND4 | c.1289T>A (p.Phe430Tyr) | |
| MT | m.12048T>C | CA414812258 | MT-ND4 | c.1289T>C (p.Phe430Ser) | dbSNP |
| MT | m.12048T>G | CA414812256 | MT-ND4 | c.1289T>G (p.Phe430Cys) | |
| MT | m.12048T= | CA2499567386 | MT-ND4 | c.1289T= (p.Phe430=) | |
| MT | m.12049C>A | CA414812261 | MT-ND4 | c.1290C>A (p.Phe430Leu) | |
| MT | m.12049C= | CA2499567387 | MT-ND4 | c.1290C= (p.Phe430=) | |
| MT | m.12049C>G | CA414812263 | MT-ND4 | c.1290C>G (p.Phe430Leu) | |
| MT | m.12049C>T | CA913169347 | MT-ND4 | c.1290C>T (p.Phe430=) | dbSNP |
| MT | m.12050A= | CA2573328798 | MT-ND4 | c.1291A= (p.Thr431=) | |
| MT | m.12050A>C | CA414812266 | MT-ND4 | c.1291A>C (p.Thr431Pro) | |
| MT | m.12050A>G | CA414812267 | MT-ND4 | c.1291A>G (p.Thr431Ala) | |
| MT | m.12050A>T | CA414812269 | MT-ND4 | c.1291A>T (p.Thr431Ser) | |
| MT | m.12051C>A | CA414812272 | MT-ND4 | c.1292C>A (p.Thr431Lys) | |
| MT | m.12051C= | CA2573328800 | MT-ND4 | c.1292C= (p.Thr431=) | |
| MT | m.12051C>G | CA414812274 | MT-ND4 | c.1292C>G (p.Thr431Arg) | |
| MT | m.12051C>T | CA414812276 | MT-ND4 | c.1292C>T (p.Thr431Ile) | |
| MT | m.12052A= | CA2499567388 | MT-ND4 | c.1293A= (p.Thr431=) | |
| MT | m.12052A>C | CA913169351 | MT-ND4 | c.1293A>C (p.Thr431=) | |
| MT | m.12052A>G | CA913169350 | MT-ND4 | c.1293A>G (p.Thr431=) | dbSNP |
| MT | m.12052A>T | CA913169349 | MT-ND4 | c.1293A>T (p.Thr431=) | |
| MT | m.12053C>A | CA913169353 | MT-ND4 | c.1294C>A (p.Arg432=) | |
| MT | m.12053C= | CA2499567389 | MT-ND4 | c.1294C= (p.Arg432=) | |
| MT | m.12053C>G | CA414812278 | MT-ND4 | c.1294C>G (p.Arg432Gly) | |
| MT | m.12053C>T | CA337099376 | MT-ND4 | c.1294C>T (p.Arg432Ter) | dbSNP |
| MT | m.12054G>A | CA414812281 | MT-ND4 | c.1295G>A (p.Arg432Gln) | ClinVar dbSNP |
| MT | m.12054G>C | CA414812283 | MT-ND4 | c.1295G>C (p.Arg432Pro) | |
| MT | m.12054G= | CA2499567390 | MT-ND4 | c.1295G= (p.Arg432=) | |
| MT | m.12054G>T | CA414812284 | MT-ND4 | c.1295G>T (p.Arg432Leu) | |
| MT | m.12055A= | CA2573328807 | MT-ND4 | c.1296A= (p.Arg432=) | |
| MT | m.12055A>C | CA913169355 | MT-ND4 | c.1296A>C (p.Arg432=) | |
| MT | m.12055A>G | CA913169356 | MT-ND4 | c.1296A>G (p.Arg432=) | |
| MT | m.12055A>T | CA913169357 | MT-ND4 | c.1296A>T (p.Arg432=) | |
| MT | m.12056G>A | CA414812289 | MT-ND4 | c.1297G>A (p.Glu433Lys) | |
| MT | m.12056G>C | CA414812290 | MT-ND4 | c.1297G>C (p.Glu433Gln) | |
| MT | m.12056G= | CA2573328811 | MT-ND4 | c.1297G= (p.Glu433=) | |
| MT | m.12056G>T | CA414812287 | MT-ND4 | c.1297G>T (p.Glu433Ter) | |
| MT | m.12057A= | CA2573328813 | MT-ND4 | c.1298A= (p.Glu433=) | |
| MT | m.12057A>C | CA414812293 | MT-ND4 | c.1298A>C (p.Glu433Ala) | |
| MT | m.12057A>G | CA414812295 | MT-ND4 | c.1298A>G (p.Glu433Gly) | |
| MT | m.12057A>T | CA414812296 | MT-ND4 | c.1298A>T (p.Glu433Val) | |
| MT | m.12058A= | CA2573328815 | MT-ND4 | c.1299A= (p.Glu433=) | |
| MT | m.12058A>C | CA414812299 | MT-ND4 | c.1299A>C (p.Glu433Asp) | |
| MT | m.12058A>G | CA913169359 | MT-ND4 | c.1299A>G (p.Glu433=) | |
| MT | m.12058A>T | CA414812301 | MT-ND4 | c.1299A>T (p.Glu433Asp) | |
| MT | m.12059A= | CA2573328817 | MT-ND4 | c.1300A= (p.Asn434=) | |
| MT | m.12059A>C | CA414812303 | MT-ND4 | c.1300A>C (p.Asn434His) | |
| MT | m.12059A>G | CA414812305 | MT-ND4 | c.1300A>G (p.Asn434Asp) | |
| MT | m.12059A>T | CA414812307 | MT-ND4 | c.1300A>T (p.Asn434Tyr) | |
| MT | m.12060A= | CA2573328819 | MT-ND4 | c.1301A= (p.Asn434=) | |
| MT | m.12060A>C | CA414812309 | MT-ND4 | c.1301A>C (p.Asn434Thr) | |
| MT | m.12060A>G | CA414812311 | MT-ND4 | c.1301A>G (p.Asn434Ser) | |
| MT | m.12060A>T | CA414812312 | MT-ND4 | c.1301A>T (p.Asn434Ile) | |
| MT | m.12061C>A | CA414812317 | MT-ND4 | c.1302C>A (p.Asn434Lys) | |
| MT | m.12061C= | CA2499567391 | MT-ND4 | c.1302C= (p.Asn434=) | |
| MT | m.12061C>G | CA414812315 | MT-ND4 | c.1302C>G (p.Asn434Lys) | |
| MT | m.12061C>T | CA913169363 | MT-ND4 | c.1302C>T (p.Asn434=) | dbSNP |
| MT | m.12062A= | CA2573328822 | MT-ND4 | c.1303A= (p.Thr435=) | |
| MT | m.12062A>C | CA414812319 | MT-ND4 | c.1303A>C (p.Thr435Pro) | |
| MT | m.12062A>G | CA414812321 | MT-ND4 | c.1303A>G (p.Thr435Ala) | |
| MT | m.12062A>T | CA414812323 | MT-ND4 | c.1303A>T (p.Thr435Ser) | |
| MT | m.12063C>A | CA414812325 | MT-ND4 | c.1304C>A (p.Thr435Asn) | |
| MT | m.12063C= | CA2499567392 | MT-ND4 | c.1304C= (p.Thr435=) | |
| MT | m.12063C>G | CA414812327 | MT-ND4 | c.1304C>G (p.Thr435Ser) | |
| MT | m.12063C>T | CA414812329 | MT-ND4 | c.1304C>T (p.Thr435Ile) | ClinVar dbSNP |
| MT | m.12064C>A | CA913169368 | MT-ND4 | c.1305C>A (p.Thr435=) | |
| MT | m.12064C= | CA2499567393 | MT-ND4 | c.1305C= (p.Thr435=) | |
| MT | m.12064C>G | CA913169369 | MT-ND4 | c.1305C>G (p.Thr435=) | |
| MT | m.12064C>T | CA913169373 | MT-ND4 | c.1305C>T (p.Thr435=) | dbSNP |
| MT | m.12065C>A | CA414812331 | MT-ND4 | c.1306C>A (p.Leu436Ile) | |
| MT | m.12065C= | CA2573328825 | MT-ND4 | c.1306C= (p.Leu436=) | |
| MT | m.12065C>G | CA414812333 | MT-ND4 | c.1306C>G (p.Leu436Val) | |
| MT | m.12065C>T | CA414812335 | MT-ND4 | c.1306C>T (p.Leu436Phe) | |
| MT | m.12066T>A | CA414812338 | MT-ND4 | c.1307T>A (p.Leu436His) | |
| MT | m.12066T>C | CA414812339 | MT-ND4 | c.1307T>C (p.Leu436Pro) | |
| MT | m.12066T>G | CA414812341 | MT-ND4 | c.1307T>G (p.Leu436Arg) | |
| MT | m.12066T= | CA2573328828 | MT-ND4 | c.1307T= (p.Leu436=) | |
| MT | m.12067C>A | CA913169376 | MT-ND4 | c.1308C>A (p.Leu436=) | |
| MT | m.12067C= | CA2499567394 | MT-ND4 | c.1308C= (p.Leu436=) | |
| MT | m.12067C>G | CA913169375 | MT-ND4 | c.1308C>G (p.Leu436=) | |
| MT | m.12067C>T | CA913169374 | MT-ND4 | c.1308C>T (p.Leu436=) | dbSNP |
| MT | m.12068A= | CA2499567395 | MT-ND4 | c.1309A= (p.Met437=) | |
| MT | m.12068A>C | CA414812345 | MT-ND4 | c.1309A>C (p.Met437Leu) | |
| MT | m.12068A>G | CA414812348 | MT-ND4 | c.1309A>G (p.Met437Val) | dbSNP |
| MT | m.12068A>T | CA414812344 | MT-ND4 | c.1309A>T (p.Met437Leu) | |
| MT | m.12069T>A | CA414812350 | MT-ND4 | c.1310T>A (p.Met437Lys) | |
| MT | m.12069T>C | CA414812354 | MT-ND4 | c.1310T>C (p.Met437Thr) | |
| MT | m.12069T>G | CA414812351 | MT-ND4 | c.1310T>G (p.Met437Arg) | |
| MT | m.12069T= | CA2573328831 | MT-ND4 | c.1310T= (p.Met437=) | |
| MT | m.12070G>A | CA414812356 | MT-ND4 | c.1311G>A (p.Met437Ile) | dbSNP |
| MT | m.12070G>C | CA414812360 | MT-ND4 | c.1311G>C (p.Met437Ile) | |
| MT | m.12070G= | CA2499567396 | MT-ND4 | c.1311G= (p.Met437=) | |
| MT | m.12070G>T | CA414812358 | MT-ND4 | c.1311G>T (p.Met437Ile) | |
| MT | m.12071T>A | CA414812363 | MT-ND4 | c.1312T>A (p.Phe438Ile) | |
| MT | m.12071T>C | CA414812366 | MT-ND4 | c.1312T>C (p.Phe438Leu) | dbSNP |
| MT | m.12071T>G | CA414812364 | MT-ND4 | c.1312T>G (p.Phe438Val) | |
| MT | m.12071T= | CA2499567397 | MT-ND4 | c.1312T= (p.Phe438=) | |
| MT | m.12072T>A | CA414812369 | MT-ND4 | c.1313T>A (p.Phe438Tyr) | |
| MT | m.12072T>C | CA414812370 | MT-ND4 | c.1313T>C (p.Phe438Ser) | |
| MT | m.12072T>G | CA414812372 | MT-ND4 | c.1313T>G (p.Phe438Cys) | |
| MT | m.12072T= | CA2573328836 | MT-ND4 | c.1313T= (p.Phe438=) | |
| MT | m.12073C>A | CA414812375 | MT-ND4 | c.1314C>A (p.Phe438Leu) | |
| MT | m.12073C= | CA2499567398 | MT-ND4 | c.1314C= (p.Phe438=) | |
| MT | m.12073C>G | CA414812376 | MT-ND4 | c.1314C>G (p.Phe438Leu) | |
| MT | m.12073C>T | CA913169380 | MT-ND4 | c.1314C>T (p.Phe438=) | dbSNP |
| MT | m.12074A= | CA2499567399 | MT-ND4 | c.1315A= (p.Ile439=) | |
| MT | m.12074A>C | CA414812379 | MT-ND4 | c.1315A>C (p.Ile439Leu) | ClinVar dbSNP |
| MT | m.12074A>G | CA414812380 | MT-ND4 | c.1315A>G (p.Ile439Val) | |
| MT | m.12074A>T | CA414812383 | MT-ND4 | c.1315A>T (p.Ile439Leu) | |
| MT | m.12075T>A | CA414812385 | MT-ND4 | c.1316T>A (p.Ile439Lys) | |
| MT | m.12075T>C | CA414812386 | MT-ND4 | c.1316T>C (p.Ile439Thr) | |
| MT | m.12075T>G | CA414812388 | MT-ND4 | c.1316T>G (p.Ile439Arg) | |
| MT | m.12075T= | CA2573328841 | MT-ND4 | c.1316T= (p.Ile439=) | |
| MT | m.12076A= | CA2499567400 | MT-ND4 | c.1317A= (p.Ile439=) | |
| MT | m.12076A>C | CA913169384 | MT-ND4 | c.1317A>C (p.Ile439=) | |
| MT | m.12076A>G | CA337099378 | MT-ND4 | c.1317A>G (p.Ile439Met) | dbSNP |
| MT | m.12076A>T | CA913169383 | MT-ND4 | c.1317A>T (p.Ile439=) | |
| MT | m.12077C>A | CA414812393 | MT-ND4 | c.1318C>A (p.His440Asn) | |
| MT | m.12077C= | CA2573328844 | MT-ND4 | c.1318C= (p.His440=) | |
| MT | m.12077C>G | CA414812396 | MT-ND4 | c.1318C>G (p.His440Asp) | |
| MT | m.12077C>T | CA414812395 | MT-ND4 | c.1318C>T (p.His440Tyr) | |
| MT | m.12078A= | CA2573328846 | MT-ND4 | c.1319A= (p.His440=) | |
| MT | m.12078A>C | CA414812399 | MT-ND4 | c.1319A>C (p.His440Pro) | |
| MT | m.12078A>G | CA414812401 | MT-ND4 | c.1319A>G (p.His440Arg) | |
| MT | m.12078A>T | CA414812403 | MT-ND4 | c.1319A>T (p.His440Leu) | |
| MT | m.12079C>A | CA414812405 | MT-ND4 | c.1320C>A (p.His440Gln) | |
| MT | m.12079C= | CA2573328848 | MT-ND4 | c.1320C= (p.His440=) | |
| MT | m.12079C>G | CA414812406 | MT-ND4 | c.1320C>G (p.His440Gln) | |
| MT | m.12079C>T | CA913169385 | MT-ND4 | c.1320C>T (p.His440=) | |
| MT | m.12080C>A | CA414812409 | MT-ND4 | c.1321C>A (p.Leu441Ile) | |
| MT | m.12080C= | CA2573328850 | MT-ND4 | c.1321C= (p.Leu441=) | |
| MT | m.12080C>G | CA414812410 | MT-ND4 | c.1321C>G (p.Leu441Val) | |
| MT | m.12080C>T | CA913169386 | MT-ND4 | c.1321C>T (p.Leu441=) | |
| MT | m.12081T>A | CA414812412 | MT-ND4 | c.1322T>A (p.Leu441Gln) | |
| MT | m.12081T>C | CA414812414 | MT-ND4 | c.1322T>C (p.Leu441Pro) | |
| MT | m.12081T>G | CA414812416 | MT-ND4 | c.1322T>G (p.Leu441Arg) | |
| MT | m.12081T= | CA2573328852 | MT-ND4 | c.1322T= (p.Leu441=) | |
| MT | m.12082A= | CA2499567401 | MT-ND4 | c.1323A= (p.Leu441=) | |
| MT | m.12082A>C | CA913169390 | MT-ND4 | c.1323A>C (p.Leu441=) | |
| MT | m.12082A>G | CA337099380 | MT-ND4 | c.1323A>G (p.Leu441=) | dbSNP |
| MT | m.12082A>T | CA913169391 | MT-ND4 | c.1323A>T (p.Leu441=) | |
| MT | m.12083T>A | CA414812423 | MT-ND4 | c.1324T>A (p.Ser442Thr) | |
| MT | m.12083T>C | CA414812420 | MT-ND4 | c.1324T>C (p.Ser442Pro) | |
| MT | m.12083T>G | CA414812422 | MT-ND4 | c.1324T>G (p.Ser442Ala) | ClinVar dbSNP |
| MT | m.12083T= | CA2499567402 | MT-ND4 | c.1324T= (p.Ser442=) | |
| MT | m.12084C>A | CA414812426 | MT-ND4 | c.1325C>A (p.Ser442Tyr) | |
| MT | m.12084C= | CA2499567403 | MT-ND4 | c.1325C= (p.Ser442=) | |
| MT | m.12084C>G | CA414812427 | MT-ND4 | c.1325C>G (p.Ser442Cys) | dbSNP |
| MT | m.12084C>T | CA414812429 | MT-ND4 | c.1325C>T (p.Ser442Phe) | ClinVar dbSNP |
| MT | m.12085C>A | CA913169395 | MT-ND4 | c.1326C>A (p.Ser442=) | |
| MT | m.12085C= | CA2499567404 | MT-ND4 | c.1326C= (p.Ser442=) | |
| MT | m.12085C>G | CA913169393 | MT-ND4 | c.1326C>G (p.Ser442=) | |
| MT | m.12085C>T | CA913169394 | MT-ND4 | c.1326C>T (p.Ser442=) | dbSNP |
| MT | m.12086C>A | CA414812432 | MT-ND4 | c.1327C>A (p.Pro443Thr) | |
| MT | m.12086C= | CA2499567405 | MT-ND4 | c.1327C= (p.Pro443=) | |
| MT | m.12086C>G | CA414812433 | MT-ND4 | c.1327C>G (p.Pro443Ala) | |
| MT | m.12086C>T | CA414812435 | MT-ND4 | c.1327C>T (p.Pro443Ser) | dbSNP |
| MT | m.12087C>A | CA414812437 | MT-ND4 | c.1328C>A (p.Pro443His) | |
| MT | m.12087C= | CA2573328864 | MT-ND4 | c.1328C= (p.Pro443=) | |
| MT | m.12087C>G | CA414812439 | MT-ND4 | c.1328C>G (p.Pro443Arg) | |
| MT | m.12087C>T | CA414812441 | MT-ND4 | c.1328C>T (p.Pro443Leu) | |
| MT | m.12088C>A | CA913169398 | MT-ND4 | c.1329C>A (p.Pro443=) | |
| MT | m.12088C= | CA2499567406 | MT-ND4 | c.1329C= (p.Pro443=) | |
| MT | m.12088C>G | CA913169397 | MT-ND4 | c.1329C>G (p.Pro443=) | |
| MT | m.12088C>T | CA337099382 | MT-ND4 | c.1329C>T (p.Pro443=) | dbSNP |
| MT | m.12089A= | CA2573328868 | MT-ND4 | c.1330A= (p.Ile444=) | |
| MT | m.12089A>C | CA414812448 | MT-ND4 | c.1330A>C (p.Ile444Leu) | |
| MT | m.12089A>G | CA414812445 | MT-ND4 | c.1330A>G (p.Ile444Val) | |
| MT | m.12089A>T | CA414812446 | MT-ND4 | c.1330A>T (p.Ile444Phe) | |
| MT | m.12090T>A | CA414812451 | MT-ND4 | c.1331T>A (p.Ile444Asn) | |
| MT | m.12090T>C | CA414812452 | MT-ND4 | c.1331T>C (p.Ile444Thr) | |
| MT | m.12090T>G | CA414812454 | MT-ND4 | c.1331T>G (p.Ile444Ser) | |
| MT | m.12090T= | CA2573328870 | MT-ND4 | c.1331T= (p.Ile444=) |