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.12114_14420del | CA645373342 | ClinVar | ||
| MT | m.12321A= | CA2573329320 | |||
| MT | m.12321A>C | CA913170101 | |||
| MT | m.12321A>G | CA913170103 | |||
| MT | m.12321A>T | CA913170102 | |||
| MT | m.12322C>A | CA913170107 | |||
| MT | m.12322C= | CA2573329321 | |||
| MT | m.12322C>G | CA913170105 | |||
| MT | m.12322C>T | CA913170104 | |||
| MT | m.12323T>A | CA913170108 | |||
| MT | m.12323T>C | CA913170109 | |||
| MT | m.12323T>G | CA913170110 | |||
| MT | m.12323T= | CA2573329322 | |||
| MT | m.12324C>A | CA913170115 | |||
| MT | m.12324C= | CA2573329323 | |||
| MT | m.12324C>G | CA913170112 | |||
| MT | m.12324C>T | CA913170111 | |||
| MT | m.12325del | CA2573105234 | |||
| MT | m.12325C>A | CA913170118 | |||
| MT | m.12325C= | CA2573329324 | |||
| MT | m.12325C>G | CA913170117 | |||
| MT | m.12325C>T | CA913170119 | |||
| MT | m.12326A= | CA2573329325 | |||
| MT | m.12326A>C | CA913170120 | |||
| MT | m.12326A>G | CA913170122 | |||
| MT | m.12326A>T | CA913170121 | |||
| MT | m.12327A= | CA2573329327 | |||
| MT | m.12327A>C | CA913170125 | |||
| MT | m.12327A>G | CA913170124 | |||
| MT | m.12327A>T | CA913170123 | |||
| MT | m.12328A= | CA2573329330 | |||
| MT | m.12328A>C | CA913170126 | |||
| MT | m.12328A>G | CA913170127 | |||
| MT | m.12328A>T | CA913170128 | |||
| MT | m.12329T>A | CA913170129 | |||
| MT | m.12329T>C | CA913170130 | |||
| MT | m.12329T>G | CA913170131 | |||
| MT | m.12329T= | CA2573329333 | |||
| MT | m.12330A= | CA2573329335 | |||
| MT | m.12330A>C | CA913170134 | |||
| MT | m.12330A>G | CA913170133 | dbSNP | ||
| MT | m.12330A>T | CA913170132 | |||
| MT | m.12331A= | CA2573329336 | |||
| MT | m.12331A>C | CA913170137 | |||
| MT | m.12331A>G | CA913170136 | |||
| MT | m.12331A>T | CA913170135 | |||
| MT | m.12332A= | CA2573329338 | |||
| MT | m.12332A>C | CA913170138 | |||
| MT | m.12332A>G | CA913170139 | |||
| MT | m.12332A>T | CA913170140 | |||
| MT | m.12333A= | CA2573329340 | |||
| MT | m.12333A>C | CA913170141 | |||
| MT | m.12333A>G | CA913170142 | |||
| MT | m.12333A>T | CA913170143 | |||
| MT | m.12334G>A | CA913170144 | |||
| MT | m.12334G>C | CA913170147 | |||
| MT | m.12334G= | CA2573329343 | |||
| MT | m.12334G>T | CA913170145 | |||
| MT | m.12335T>A | CA913170148 | |||
| MT | m.12335T>C | CA913170150 | ClinVar dbSNP | ||
| MT | m.12335T>G | CA913170151 | |||
| MT | m.12335T= | CA2499567527 | |||
| MT | m.12335_12336del | CA2573105235 | |||
| MT | m.12336A= | CA2573329347 | |||
| MT | m.12336A>C | CA913170152 | |||
| MT | m.12336A>G | CA913170153 | |||
| MT | m.12336A>T | CA913170154 | |||
| MT | m.12337A= | CA2499567528 | MT-ND5 | c.1A= (p.Ile1=) | |
| MT | m.12337A>C | CA414812704 | MT-ND5 | c.1A>C (p.Ile1Leu) | |
| MT | m.12337A>G | CA414812706 | MT-ND5 | c.1A>G (p.Ile1Val) | dbSNP |
| MT | m.12337A>T | CA414812707 | MT-ND5 | c.1A>T (p.Ile1Leu) | |
| MT | m.12338T>A | CA414812710 | MT-ND5 | c.2T>A (p.Ile1Lys) | |
| MT | m.12338T>C | CA259737 | MT-ND5 | c.2T>C (p.Ile1Thr) | ClinVar dbSNP |
| MT | m.12338T>G | CA414812712 | MT-ND5 | c.2T>G (p.Ile1Arg) | |
| MT | m.12338T= | CA2499567529 | MT-ND5 | c.2T= (p.Ile1=) | |
| MT | m.12339A= | CA2573329349 | MT-ND5 | c.3A= (p.Ile1=) | |
| MT | m.12339A>C | CA913170155 | MT-ND5 | c.3A>C (p.Ile1=) | |
| MT | m.12339A>G | CA414812715 | MT-ND5 | c.3A>G (p.Ile1Met) | |
| MT | m.12339A>T | CA913170156 | MT-ND5 | c.3A>T (p.Ile1=) | |
| MT | m.12340A= | CA2499567530 | MT-ND5 | c.4A= (p.Thr2=) | |
| MT | m.12340A>C | CA414812718 | MT-ND5 | c.4A>C (p.Thr2Pro) | |
| MT | m.12340A>G | CA337099449 | MT-ND5 | c.4A>G (p.Thr2Ala) | ClinVar dbSNP |
| MT | m.12340A>T | CA414812720 | MT-ND5 | c.4A>T (p.Thr2Ser) | |
| MT | m.12341C>A | CA414812723 | MT-ND5 | c.5C>A (p.Thr2Asn) | |
| MT | m.12341C= | CA2499567531 | MT-ND5 | c.5C= (p.Thr2=) | |
| MT | m.12341C>G | CA414812725 | MT-ND5 | c.5C>G (p.Thr2Ser) | |
| MT | m.12341C>T | CA414812726 | MT-ND5 | c.5C>T (p.Thr2Ile) | ClinVar dbSNP |
| MT | m.12342C>A | CA913170161 | MT-ND5 | c.6C>A (p.Thr2=) | |
| MT | m.12342C= | CA2499567532 | MT-ND5 | c.6C= (p.Thr2=) | |
| MT | m.12342C>G | CA913170162 | MT-ND5 | c.6C>G (p.Thr2=) | dbSNP |
| MT | m.12342C>T | CA913170163 | MT-ND5 | c.6C>T (p.Thr2=) | dbSNP |
| MT | m.12343A= | CA2573329357 | MT-ND5 | c.7A= (p.Met3=) | |
| MT | m.12343A>C | CA414812729 | MT-ND5 | c.7A>C (p.Met3Leu) | |
| MT | m.12343A>G | CA414812731 | MT-ND5 | c.7A>G (p.Met3Val) | |
| MT | m.12343A>T | CA414812732 | MT-ND5 | c.7A>T (p.Met3Leu) | |
| MT | m.12344T>A | CA414812735 | MT-ND5 | c.8T>A (p.Met3Lys) | |
| MT | m.12344T>C | CA414812738 | MT-ND5 | c.8T>C (p.Met3Thr) | ClinVar dbSNP COSMIC |
| MT | m.12344T>G | CA414812736 | MT-ND5 | c.8T>G (p.Met3Arg) | |
| MT | m.12344T= | CA2499567533 | MT-ND5 | c.8T= (p.Met3=) | |
| MT | m.12345G>A | CA414812741 | MT-ND5 | c.9G>A (p.Met3Ile) | |
| MT | m.12345G>C | CA414812742 | MT-ND5 | c.9G>C (p.Met3Ile) | |
| MT | m.12345G= | CA2573329360 | MT-ND5 | c.9G= (p.Met3=) | |
| MT | m.12345G>T | CA414812743 | MT-ND5 | c.9G>T (p.Met3Ile) | |
| MT | m.12346C>A | CA414812747 | MT-ND5 | c.10C>A (p.His4Asn) | |
| MT | m.12346C= | CA2499567534 | MT-ND5 | c.10C= (p.His4=) | |
| MT | m.12346C>G | CA414812748 | MT-ND5 | c.10C>G (p.His4Asp) | |
| MT | m.12346C>T | CA337099451 | MT-ND5 | c.10C>T (p.His4Tyr) | ClinVar dbSNP |
| MT | m.12347A= | CA2573329363 | MT-ND5 | c.11A= (p.His4=) | |
| MT | m.12347A>C | CA414812752 | MT-ND5 | c.11A>C (p.His4Pro) | |
| MT | m.12347A>G | CA414812753 | MT-ND5 | c.11A>G (p.His4Arg) | |
| MT | m.12347A>T | CA414812755 | MT-ND5 | c.11A>T (p.His4Leu) | |
| MT | m.12348C>A | CA414812758 | MT-ND5 | c.12C>A (p.His4Gln) | |
| MT | m.12348C= | CA2499567535 | MT-ND5 | c.12C= (p.His4=) | |
| MT | m.12348C>G | CA414812759 | MT-ND5 | c.12C>G (p.His4Gln) | |
| MT | m.12348C>T | CA337099453 | MT-ND5 | c.12C>T (p.His4=) | dbSNP |
| MT | m.12349A= | CA2499567536 | MT-ND5 | c.13A= (p.Thr5=) | |
| MT | m.12349A>C | CA414812762 | MT-ND5 | c.13A>C (p.Thr5Pro) | |
| MT | m.12349A>G | CA414812766 | MT-ND5 | c.13A>G (p.Thr5Ala) | ClinVar dbSNP |
| MT | m.12349A>T | CA414812764 | MT-ND5 | c.13A>T (p.Thr5Ser) | COSMIC |
| MT | m.12350C>A | CA414812769 | MT-ND5 | c.14C>A (p.Thr5Asn) | |
| MT | m.12350C= | CA2573329365 | MT-ND5 | c.14C= (p.Thr5=) | |
| MT | m.12350C>G | CA414812771 | MT-ND5 | c.14C>G (p.Thr5Ser) | |
| MT | m.12350C>T | CA414812773 | MT-ND5 | c.14C>T (p.Thr5Ile) | |
| MT | m.12351T>A | CA913170168 | MT-ND5 | c.15T>A (p.Thr5=) | |
| MT | m.12351T>C | CA337099455 | MT-ND5 | c.15T>C (p.Thr5=) | dbSNP |
| MT | m.12351T>G | CA913170169 | MT-ND5 | c.15T>G (p.Thr5=) | |
| MT | m.12351T= | CA2499567537 | MT-ND5 | c.15T= (p.Thr5=) | |
| MT | m.12352A= | CA2499567538 | MT-ND5 | c.16A= (p.Thr6=) | |
| MT | m.12352A>C | CA414812776 | MT-ND5 | c.16A>C (p.Thr6Pro) | |
| MT | m.12352A>G | CA414812778 | MT-ND5 | c.16A>G (p.Thr6Ala) | ClinVar dbSNP |
| MT | m.12352A>T | CA414812780 | MT-ND5 | c.16A>T (p.Thr6Ser) | |
| MT | m.12353C>A | CA414812782 | MT-ND5 | c.17C>A (p.Thr6Asn) | |
| MT | m.12353C= | CA2513033888 | MT-ND5 | c.17C= (p.Thr6=) | |
| MT | m.12353C>G | CA414812784 | MT-ND5 | c.17C>G (p.Thr6Ser) | |
| MT | m.12353C>T | CA414812786 | MT-ND5 | c.17C>T (p.Thr6Ile) | |
| MT | m.12354T>A | CA337099456 | MT-ND5 | c.18T>A (p.Thr6=) | |
| MT | m.12354T>C | CA913170173 | MT-ND5 | c.18T>C (p.Thr6=) | dbSNP |
| MT | m.12354T>G | CA337099457 | MT-ND5 | c.18T>G (p.Thr6=) | |
| MT | m.12354T= | CA2499567539 | MT-ND5 | c.18T= (p.Thr6=) | |
| MT | m.12355A= | CA2573329372 | MT-ND5 | c.19A= (p.Ile7=) | |
| MT | m.12355A>C | CA414812791 | MT-ND5 | c.19A>C (p.Ile7Leu) | |
| MT | m.12355A>G | CA414812794 | MT-ND5 | c.19A>G (p.Ile7Val) | |
| MT | m.12355A>T | CA414812792 | MT-ND5 | c.19A>T (p.Ile7Leu) | |
| MT | m.12356T>A | CA414812797 | MT-ND5 | c.20T>A (p.Ile7Lys) | |
| MT | m.12356T>C | CA414812801 | MT-ND5 | c.20T>C (p.Ile7Thr) | |
| MT | m.12356T>G | CA414812799 | MT-ND5 | c.20T>G (p.Ile7Arg) | |
| MT | m.12356T= | CA2573329374 | MT-ND5 | c.20T= (p.Ile7=) | |
| MT | m.12357A= | CA2573329376 | MT-ND5 | c.21A= (p.Ile7=) | |
| MT | m.12357A>C | CA913170176 | MT-ND5 | c.21A>C (p.Ile7=) | |
| MT | m.12357A>G | CA414812802 | MT-ND5 | c.21A>G (p.Ile7Met) | |
| MT | m.12357A>T | CA913170175 | MT-ND5 | c.21A>T (p.Ile7=) | |
| MT | m.12358A= | CA2499567540 | MT-ND5 | c.22A= (p.Thr8=) | |
| MT | m.12358A>C | CA414812805 | MT-ND5 | c.22A>C (p.Thr8Pro) | |
| MT | m.12358A>G | CA337099460 | MT-ND5 | c.22A>G (p.Thr8Ala) | ClinVar dbSNP |
| MT | m.12358A>T | CA414812807 | MT-ND5 | c.22A>T (p.Thr8Ser) | |
| MT | m.12359C>A | CA414812810 | MT-ND5 | c.23C>A (p.Thr8Asn) | |
| MT | m.12359C= | CA2573329380 | MT-ND5 | c.23C= (p.Thr8=) | |
| MT | m.12359C>G | CA414812812 | MT-ND5 | c.23C>G (p.Thr8Ser) | |
| MT | m.12359C>T | CA414812813 | MT-ND5 | c.23C>T (p.Thr8Ile) | |
| MT | m.12360C>A | CA913170181 | MT-ND5 | c.24C>A (p.Thr8=) | |
| MT | m.12360C= | CA2499567541 | MT-ND5 | c.24C= (p.Thr8=) | |
| MT | m.12360C>G | CA913170182 | MT-ND5 | c.24C>G (p.Thr8=) | |
| MT | m.12360C>T | CA913170183 | MT-ND5 | c.24C>T (p.Thr8=) | dbSNP |
| MT | m.12360_12365dup | CA2740098363 | MT-ND5 | c.24_29dup (p.Leu10_Thr11insThrLeu) | |
| MT | m.12361A= | CA2499567542 | MT-ND5 | c.25A= (p.Thr9=) | |
| MT | m.12361A>C | CA414812816 | MT-ND5 | c.25A>C (p.Thr9Pro) | |
| MT | m.12361A>G | CA337099462 | MT-ND5 | c.25A>G (p.Thr9Ala) | ClinVar dbSNP |
| MT | m.12361A>T | CA414812818 | MT-ND5 | c.25A>T (p.Thr9Ser) | |
| MT | m.12365_12366insGACCCT | CA2740098365 | MT-ND5 | c.29_30insGACCCT (p.Leu10_Thr11insThrLeu) | |
| MT | m.12365_12366insTACCCT | CA2740098366 | MT-ND5 | c.29_30insTACCCT (p.Leu10_Thr11insThrLeu) | |
| MT | m.12362C>A | CA414812821 | MT-ND5 | c.26C>A (p.Thr9Asn) | |
| MT | m.12362C= | CA2499567543 | MT-ND5 | c.26C= (p.Thr9=) | |
| MT | m.12362C>G | CA414812823 | MT-ND5 | c.26C>G (p.Thr9Ser) | |
| MT | m.12362C>T | CA414812824 | MT-ND5 | c.26C>T (p.Thr9Ile) | ClinVar dbSNP |
| MT | m.12366_12367insGCCCTA | CA2740098368 | MT-ND5 | c.30_31insGCCCTA (p.Leu10_Thr11insAlaLeu) | |
| MT | m.12363C>A | CA913170187 | MT-ND5 | c.27C>A (p.Thr9=) | dbSNP |
| MT | m.12363C= | CA2499567544 | MT-ND5 | c.27C= (p.Thr9=) | |
| MT | m.12363C>G | CA913170188 | MT-ND5 | c.27C>G (p.Thr9=) | |
| MT | m.12363C>T | CA913170189 | MT-ND5 | c.27C>T (p.Thr9=) | dbSNP |
| MT | m.12364C>A | CA414812827 | MT-ND5 | c.28C>A (p.Leu10Ile) | |
| MT | m.12364C= | CA2499567545 | MT-ND5 | c.28C= (p.Leu10=) | |
| MT | m.12364C>G | CA414812828 | MT-ND5 | c.28C>G (p.Leu10Val) | |
| MT | m.12364C>T | CA913170191 | MT-ND5 | c.28C>T (p.Leu10=) | dbSNP |
| MT | m.12365T>A | CA414812831 | MT-ND5 | c.29T>A (p.Leu10Gln) | |
| MT | m.12365T>C | CA414812833 | MT-ND5 | c.29T>C (p.Leu10Pro) | |
| MT | m.12365T>G | CA414812834 | MT-ND5 | c.29T>G (p.Leu10Arg) | |
| MT | m.12365T= | CA2573329388 | MT-ND5 | c.29T= (p.Leu10=) | |
| MT | m.12372_12414del | CA2740098370 | MT-ND5 | c.36_78del (p.Ser14LysfsTer9) | |
| MT | m.12366A= | CA2499567546 | MT-ND5 | c.30A= (p.Leu10=) | |
| MT | m.12366A>C | CA913170193 | MT-ND5 | c.30A>C (p.Leu10=) | |
| MT | m.12366A>G | CA913170195 | MT-ND5 | c.30A>G (p.Leu10=) | dbSNP |
| MT | m.12366A>T | CA913170197 | MT-ND5 | c.30A>T (p.Leu10=) | |
| MT | m.12367A= | CA2499567547 | MT-ND5 | c.31A= (p.Thr11=) | |
| MT | m.12367A>C | CA414812837 | MT-ND5 | c.31A>C (p.Thr11Pro) | |
| MT | m.12367A>G | CA414812839 | MT-ND5 | c.31A>G (p.Thr11Ala) | ClinVar dbSNP |
| MT | m.12367A>T | CA414812841 | MT-ND5 | c.31A>T (p.Thr11Ser) | |
| MT | m.12369_12374dup | CA2740098371 | MT-ND5 | c.33_38dup (p.Thr13_Ser14insLeuThr) | |
| MT | m.12368C>A | CA414812843 | MT-ND5 | c.32C>A (p.Thr11Asn) | |
| MT | m.12368C= | CA2573329395 | MT-ND5 | c.32C= (p.Thr11=) | |
| MT | m.12368C>G | CA414812845 | MT-ND5 | c.32C>G (p.Thr11Ser) | |
| MT | m.12368C>T | CA414812847 | MT-ND5 | c.32C>T (p.Thr11Ile) | |
| MT | m.12369C>A | CA913170201 | MT-ND5 | c.33C>A (p.Thr11=) | |
| MT | m.12369C= | CA2573329396 | MT-ND5 | c.33C= (p.Thr11=) | |
| MT | m.12369C>G | CA913170200 | MT-ND5 | c.33C>G (p.Thr11=) | |
| MT | m.12369C>T | CA913170199 | MT-ND5 | c.33C>T (p.Thr11=) | |
| MT | m.12370C>A | CA414812849 | MT-ND5 | c.34C>A (p.Leu12Met) | |
| MT | m.12370C= | CA2499567548 | MT-ND5 | c.34C= (p.Leu12=) | |
| MT | m.12370C>G | CA414812850 | MT-ND5 | c.34C>G (p.Leu12Val) | |
| MT | m.12370C>T | CA913170202 | MT-ND5 | c.34C>T (p.Leu12=) | dbSNP |
| MT | m.12371T>A | CA414812852 | MT-ND5 | c.35T>A (p.Leu12Gln) | |
| MT | m.12371T>C | CA414812856 | MT-ND5 | c.35T>C (p.Leu12Pro) | |
| MT | m.12371T>G | CA414812854 | MT-ND5 | c.35T>G (p.Leu12Arg) | dbSNP |
| MT | m.12371T= | CA2499567549 | MT-ND5 | c.35T= (p.Leu12=) | |
| MT | m.12372G>A | CA337099467 | MT-ND5 | c.36G>A (p.Leu12=) | ClinVar dbSNP |
| MT | m.12372G>C | CA337099466 | MT-ND5 | c.36G>C (p.Leu12=) | |
| MT | m.12372G= | CA2499567550 | MT-ND5 | c.36G= (p.Leu12=) | |
| MT | m.12372G>T | CA337099464 | MT-ND5 | c.36G>T (p.Leu12=) | |
| MT | m.12373A= | CA2499567551 | MT-ND5 | c.37A= (p.Thr13=) | |
| MT | m.12373A>C | CA414812863 | MT-ND5 | c.37A>C (p.Thr13Pro) | |
| MT | m.12373A>G | CA414812865 | MT-ND5 | c.37A>G (p.Thr13Ala) | ClinVar dbSNP |
| MT | m.12373A>T | CA414812866 | MT-ND5 | c.37A>T (p.Thr13Ser) | |
| MT | m.12374C>A | CA414812869 | MT-ND5 | c.38C>A (p.Thr13Asn) | |
| MT | m.12374C= | CA2573329407 | MT-ND5 | c.38C= (p.Thr13=) | |
| MT | m.12374C>G | CA414812870 | MT-ND5 | c.38C>G (p.Thr13Ser) | |
| MT | m.12374C>T | CA414812872 | MT-ND5 | c.38C>T (p.Thr13Ile) | dbSNP |
| MT | m.12375T>A | CA913170208 | MT-ND5 | c.39T>A (p.Thr13=) | |
| MT | m.12375T>C | CA913170207 | MT-ND5 | c.39T>C (p.Thr13=) | dbSNP |
| MT | m.12375T>G | CA913170206 | MT-ND5 | c.39T>G (p.Thr13=) | |
| MT | m.12375T= | CA2499567552 | MT-ND5 | c.39T= (p.Thr13=) | |
| MT | m.12376T>A | CA414812875 | MT-ND5 | c.40T>A (p.Ser14Thr) | |
| MT | m.12376T>C | CA414812876 | MT-ND5 | c.40T>C (p.Ser14Pro) | |
| MT | m.12376T>G | CA414812877 | MT-ND5 | c.40T>G (p.Ser14Ala) | |
| MT | m.12376T= | CA2573329411 | MT-ND5 | c.40T= (p.Ser14=) | |
| MT | m.12377C>A | CA414812880 | MT-ND5 | c.41C>A (p.Ser14Tyr) | |
| MT | m.12377C= | CA2573329413 | MT-ND5 | c.41C= (p.Ser14=) | |
| MT | m.12377C>G | CA414812884 | MT-ND5 | c.41C>G (p.Ser14Cys) | |
| MT | m.12377C>T | CA414812882 | MT-ND5 | c.41C>T (p.Ser14Phe) | |
| MT | m.12378C>A | CA913170211 | MT-ND5 | c.42C>A (p.Ser14=) | |
| MT | m.12378C= | CA2499567553 | MT-ND5 | c.42C= (p.Ser14=) | |
| MT | m.12378C>G | CA913170212 | MT-ND5 | c.42C>G (p.Ser14=) | |
| MT | m.12378C>T | CA913170213 | MT-ND5 | c.42C>T (p.Ser14=) | dbSNP |
| MT | m.12379C>A | CA414812887 | MT-ND5 | c.43C>A (p.Leu15Ile) | |
| MT | m.12379C= | CA2499567554 | MT-ND5 | c.43C= (p.Leu15=) | |
| MT | m.12379C>G | CA414812888 | MT-ND5 | c.43C>G (p.Leu15Val) | |
| MT | m.12379C>T | CA913170214 | MT-ND5 | c.43C>T (p.Leu15=) | dbSNP |
| MT | m.12380T>A | CA414812891 | MT-ND5 | c.44T>A (p.Leu15Gln) | |
| MT | m.12380T>C | CA414812893 | MT-ND5 | c.44T>C (p.Leu15Pro) | |
| MT | m.12380T>G | CA414812894 | MT-ND5 | c.44T>G (p.Leu15Arg) | |
| MT | m.12380T= | CA2573329415 | MT-ND5 | c.44T= (p.Leu15=) | |
| MT | m.12380_12384del | CA2573105236 | MT-ND5 | c.44_48del (p.Leu15ProfsTer9) | |
| MT | m.12381A= | CA2499567555 | MT-ND5 | c.45A= (p.Leu15=) | |
| MT | m.12381A>C | CA913170216 | MT-ND5 | c.45A>C (p.Leu15=) | |
| MT | m.12381A>G | CA913170220 | MT-ND5 | c.45A>G (p.Leu15=) | dbSNP |
| MT | m.12381A>T | CA913170218 | MT-ND5 | c.45A>T (p.Leu15=) | |
| MT | m.12382A= | CA2499567556 | MT-ND5 | c.46A= (p.Ile16=) | |
| MT | m.12382A>C | CA414812897 | MT-ND5 | c.46A>C (p.Ile16Leu) | |
| MT | m.12382A>G | CA414812899 | MT-ND5 | c.46A>G (p.Ile16Val) | ClinVar dbSNP |
| MT | m.12382A>T | CA414812900 | MT-ND5 | c.46A>T (p.Ile16Phe) | |
| MT | m.12383T>A | CA414812906 | MT-ND5 | c.47T>A (p.Ile16Asn) | |
| MT | m.12383T>C | CA414812905 | MT-ND5 | c.47T>C (p.Ile16Thr) | ClinVar dbSNP |
| MT | m.12383T>G | CA414812904 | MT-ND5 | c.47T>G (p.Ile16Ser) | |
| MT | m.12383T= | CA2499567557 | MT-ND5 | c.47T= (p.Ile16=) | |
| MT | m.12384T>A | CA913170221 | MT-ND5 | c.48T>A (p.Ile16=) | |
| MT | m.12384T>C | CA913170222 | MT-ND5 | c.48T>C (p.Ile16=) | dbSNP |
| MT | m.12384T>G | CA414812909 | MT-ND5 | c.48T>G (p.Ile16Met) | |
| MT | m.12384T= | CA2499567558 | MT-ND5 | c.48T= (p.Ile16=) | |
| MT | m.12385C>A | CA414812914 | MT-ND5 | c.49C>A (p.Pro17Thr) | |
| MT | m.12385C= | CA2573329423 | MT-ND5 | c.49C= (p.Pro17=) | |
| MT | m.12385C>G | CA414812911 | MT-ND5 | c.49C>G (p.Pro17Ala) | |
| MT | m.12385C>T | CA414812912 | MT-ND5 | c.49C>T (p.Pro17Ser) | |
| MT | m.12390dup | CA2573105237 | MT-ND5 | c.54dup (p.Ile19HisfsTer7) | |
| MT | m.12390del | CA2573105238 | MT-ND5 | c.54del (p.Ile19SerfsTer18) | |
| MT | m.12386C>A | CA414812917 | MT-ND5 | c.50C>A (p.Pro17His) | |
| MT | m.12386C= | CA2499567559 | MT-ND5 | c.50C= (p.Pro17=) | |
| MT | m.12386C>G | CA414812918 | MT-ND5 | c.50C>G (p.Pro17Arg) | |
| MT | m.12386C>T | CA414812920 | MT-ND5 | c.50C>T (p.Pro17Leu) | ClinVar dbSNP |
| MT | m.12387C>A | CA913170223 | MT-ND5 | c.51C>A (p.Pro17=) | |
| MT | m.12387C= | CA2499567560 | MT-ND5 | c.51C= (p.Pro17=) | |
| MT | m.12387C>G | CA913170224 | MT-ND5 | c.51C>G (p.Pro17=) | |
| MT | m.12387C>T | CA913170225 | MT-ND5 | c.51C>T (p.Pro17=) | dbSNP |
| MT | m.12388C>A | CA414812922 | MT-ND5 | c.52C>A (p.Pro18Thr) | |
| MT | m.12388C= | CA2573329427 | MT-ND5 | c.52C= (p.Pro18=) | |
| MT | m.12388C>G | CA414812923 | MT-ND5 | c.52C>G (p.Pro18Ala) | |
| MT | m.12388C>T | CA414812925 | MT-ND5 | c.52C>T (p.Pro18Ser) | |
| MT | m.12389C>A | CA414812928 | MT-ND5 | c.53C>A (p.Pro18His) | |
| MT | m.12389C= | CA2499567561 | MT-ND5 | c.53C= (p.Pro18=) | |
| MT | m.12389C>G | CA414812929 | MT-ND5 | c.53C>G (p.Pro18Arg) | |
| MT | m.12389C>T | CA414812931 | MT-ND5 | c.53C>T (p.Pro18Leu) | ClinVar dbSNP |
| MT | m.12390C>A | CA913170229 | MT-ND5 | c.54C>A (p.Pro18=) | |
| MT | m.12390C= | CA2499567562 | MT-ND5 | c.54C= (p.Pro18=) | |
| MT | m.12390C>G | CA913170227 | MT-ND5 | c.54C>G (p.Pro18=) | |
| MT | m.12390C>T | CA913170228 | MT-ND5 | c.54C>T (p.Pro18=) | dbSNP |
| MT | m.12391A= | CA2573329432 | MT-ND5 | c.55A= (p.Ile19=) | |
| MT | m.12391A>C | CA414812938 | MT-ND5 | c.55A>C (p.Ile19Leu) | |
| MT | m.12391A>G | CA414812934 | MT-ND5 | c.55A>G (p.Ile19Val) | |
| MT | m.12391A>T | CA414812936 | MT-ND5 | c.55A>T (p.Ile19Phe) | |
| MT | m.12391_12397del | CA2573105239 | MT-ND5 | c.55_61del (p.Ile19ProfsTer16) | |
| MT | m.12392T>A | CA414812940 | MT-ND5 | c.56T>A (p.Ile19Asn) | |
| MT | m.12392T>C | CA414812942 | MT-ND5 | c.56T>C (p.Ile19Thr) | dbSNP |
| MT | m.12392T>G | CA414812944 | MT-ND5 | c.56T>G (p.Ile19Ser) | |
| MT | m.12392T= | CA2499567563 | MT-ND5 | c.56T= (p.Ile19=) | |
| MT | m.12393C>A | CA913170233 | MT-ND5 | c.57C>A (p.Ile19=) | |
| MT | m.12393C= | CA2573329435 | MT-ND5 | c.57C= (p.Ile19=) | |
| MT | m.12393C>G | CA414812946 | MT-ND5 | c.57C>G (p.Ile19Met) | |
| MT | m.12393C>T | CA913170232 | MT-ND5 | c.57C>T (p.Ile19=) | dbSNP |
| MT | m.12394C>A | CA414812949 | MT-ND5 | c.58C>A (p.Leu20Ile) | |
| MT | m.12394C= | CA2499567564 | MT-ND5 | c.58C= (p.Leu20=) | |
| MT | m.12394C>G | CA414812950 | MT-ND5 | c.58C>G (p.Leu20Val) | |
| MT | m.12394C>T | CA337099470 | MT-ND5 | c.58C>T (p.Leu20Phe) | dbSNP |
| MT | m.12395T>A | CA414812953 | MT-ND5 | c.59T>A (p.Leu20His) | |
| MT | m.12395T>C | CA414812954 | MT-ND5 | c.59T>C (p.Leu20Pro) | |
| MT | m.12395T>G | CA414812957 | MT-ND5 | c.59T>G (p.Leu20Arg) | dbSNP |
| MT | m.12395T= | CA2499567565 | MT-ND5 | c.59T= (p.Leu20=) | |
| MT | m.12396T>A | CA414812961 | MT-ND5 | c.60T>A (p.Leu20=) | |
| MT | m.12396T>C | CA913170234 | MT-ND5 | c.60T>C (p.Leu20=) | dbSNP |
| MT | m.12396T>G | CA414812959 | MT-ND5 | c.60T>G (p.Leu20=) | |
| MT | m.12396T= | CA2499567566 | MT-ND5 | c.60T= (p.Leu20=) | |
| MT | m.12397A= | CA2499567567 | MT-ND5 | c.61A= (p.Thr21=) | |
| MT | m.12397A>C | CA414812963 | MT-ND5 | c.61A>C (p.Thr21Pro) | |
| MT | m.12397A>G | CA254856 | MT-ND5 | c.61A>G (p.Thr21Ala) | ClinVar dbSNP |
| MT | m.12397A>T | CA414812966 | MT-ND5 | c.61A>T (p.Thr21Ser) | |
| MT | m.12398C>A | CA414812968 | MT-ND5 | c.62C>A (p.Thr21Asn) | |
| MT | m.12398C= | CA2499567568 | MT-ND5 | c.62C= (p.Thr21=) | |
| MT | m.12398C>G | CA414812970 | MT-ND5 | c.62C>G (p.Thr21Ser) | |
| MT | m.12398C>T | CA414812972 | MT-ND5 | c.62C>T (p.Thr21Ile) | dbSNP |
| MT | m.12399C>A | CA913170239 | MT-ND5 | c.63C>A (p.Thr21=) | |
| MT | m.12399C= | CA2573329440 | MT-ND5 | c.63C= (p.Thr21=) | |
| MT | m.12399C>G | CA913170240 | MT-ND5 | c.63C>G (p.Thr21=) | |
| MT | m.12399C>T | CA913170241 | MT-ND5 | c.63C>T (p.Thr21=) | |
| MT | m.12400A= | CA2499567569 | MT-ND5 | c.64A= (p.Thr22=) | |
| MT | m.12400A>C | CA414812974 | MT-ND5 | c.64A>C (p.Thr22Pro) | |
| MT | m.12400A>G | CA337099473 | MT-ND5 | c.64A>G (p.Thr22Ala) | ClinVar dbSNP |
| MT | m.12400A>T | CA414812977 | MT-ND5 | c.64A>T (p.Thr22Ser) | |
| MT | m.12401C>A | CA414812980 | MT-ND5 | c.65C>A (p.Thr22Asn) | |
| MT | m.12401C= | CA2499567570 | MT-ND5 | c.65C= (p.Thr22=) | |
| MT | m.12401C>G | CA414812982 | MT-ND5 | c.65C>G (p.Thr22Ser) | |
| MT | m.12401C>T | CA414812983 | MT-ND5 | c.65C>T (p.Thr22Ile) | ClinVar dbSNP |
| MT | m.12402C>A | CA913170246 | MT-ND5 | c.66C>A (p.Thr22=) | |
| MT | m.12402C= | CA2573329445 | MT-ND5 | c.66C= (p.Thr22=) | |
| MT | m.12402C>G | CA913170245 | MT-ND5 | c.66C>G (p.Thr22=) | |
| MT | m.12402C>T | CA913170244 | MT-ND5 | c.66C>T (p.Thr22=) | |
| MT | m.12403C>A | CA414812988 | MT-ND5 | c.67C>A (p.Leu23Ile) | |
| MT | m.12403C= | CA2499567571 | MT-ND5 | c.67C= (p.Leu23=) | |
| MT | m.12403C>G | CA414812986 | MT-ND5 | c.67C>G (p.Leu23Val) | |
| MT | m.12403C>T | CA337099475 | MT-ND5 | c.67C>T (p.Leu23Phe) | ClinVar dbSNP |
| MT | m.12404T>A | CA414812991 | MT-ND5 | c.68T>A (p.Leu23His) | |
| MT | m.12404T>C | CA414812993 | MT-ND5 | c.68T>C (p.Leu23Pro) | |
| MT | m.12404T>G | CA414812994 | MT-ND5 | c.68T>G (p.Leu23Arg) | |
| MT | m.12404T= | CA2513183776 | MT-ND5 | c.68T= (p.Leu23=) | |
| MT | m.12405C>A | CA913170250 | MT-ND5 | c.69C>A (p.Leu23=) | |
| MT | m.12405C= | CA2499567572 | MT-ND5 | c.69C= (p.Leu23=) | |
| MT | m.12405C>G | CA913170252 | MT-ND5 | c.69C>G (p.Leu23=) | |
| MT | m.12405C>T | CA913170253 | MT-ND5 | c.69C>T (p.Leu23=) | dbSNP |
| MT | m.12406G>A | CA337099477 | MT-ND5 | c.70G>A (p.Val24Ile) | ClinVar dbSNP |
| MT | m.12406G>C | CA414812997 | MT-ND5 | c.70G>C (p.Val24Leu) | |
| MT | m.12406G= | CA2499567573 | MT-ND5 | c.70G= (p.Val24=) | |
| MT | m.12406G>T | CA414812999 | MT-ND5 | c.70G>T (p.Val24Phe) | |
| MT | m.12407T>A | CA414813002 | MT-ND5 | c.71T>A (p.Val24Asp) | |
| MT | m.12407T>C | CA414813004 | MT-ND5 | c.71T>C (p.Val24Ala) | |
| MT | m.12407T>G | CA414813006 | MT-ND5 | c.71T>G (p.Val24Gly) | |
| MT | m.12407T= | CA2573329451 | MT-ND5 | c.71T= (p.Val24=) | |
| MT | m.12408T>A | CA337099480 | MT-ND5 | c.72T>A (p.Val24=) | dbSNP |
| MT | m.12408T>C | CA913170254 | MT-ND5 | c.72T>C (p.Val24=) | dbSNP |
| MT | m.12408T>G | CA337099481 | MT-ND5 | c.72T>G (p.Val24=) | |
| MT | m.12408T= | CA2499567574 | MT-ND5 | c.72T= (p.Val24=) | |
| MT | m.12409A= | CA2573329454 | MT-ND5 | c.73A= (p.Asn25=) | |
| MT | m.12409A>C | CA414813012 | MT-ND5 | c.73A>C (p.Asn25His) | |
| MT | m.12409A>G | CA414813014 | MT-ND5 | c.73A>G (p.Asn25Asp) | |
| MT | m.12409A>T | CA414813010 | MT-ND5 | c.73A>T (p.Asn25Tyr) | |
| MT | m.12410A= | CA2499567575 | MT-ND5 | c.74A= (p.Asn25=) | |
| MT | m.12410A>C | CA414813016 | MT-ND5 | c.74A>C (p.Asn25Thr) | |
| MT | m.12410A>G | CA414813018 | MT-ND5 | c.74A>G (p.Asn25Ser) | ClinVar dbSNP |
| MT | m.12410A>T | CA414813020 | MT-ND5 | c.74A>T (p.Asn25Ile) | |
| MT | m.12411C>A | CA414813022 | MT-ND5 | c.75C>A (p.Asn25Lys) | |
| MT | m.12411C= | CA2499567576 | MT-ND5 | c.75C= (p.Asn25=) | |
| MT | m.12411C>G | CA414813024 | MT-ND5 | c.75C>G (p.Asn25Lys) | |
| MT | m.12411C>T | CA913170256 | MT-ND5 | c.75C>T (p.Asn25=) | dbSNP |
| MT | m.12412C>A | CA414813027 | MT-ND5 | c.76C>A (p.Pro26Thr) | |
| MT | m.12412C= | CA2573329456 | MT-ND5 | c.76C= (p.Pro26=) | |
| MT | m.12412C>G | CA414813028 | MT-ND5 | c.76C>G (p.Pro26Ala) | |
| MT | m.12412C>T | CA414813030 | MT-ND5 | c.76C>T (p.Pro26Ser) | |
| MT | m.12413C>A | CA414813032 | MT-ND5 | c.77C>A (p.Pro26His) | |
| MT | m.12413C= | CA2513089582 | MT-ND5 | c.77C= (p.Pro26=) | |
| MT | m.12413C>G | CA414813034 | MT-ND5 | c.77C>G (p.Pro26Arg) | |
| MT | m.12413C>T | CA414813035 | MT-ND5 | c.77C>T (p.Pro26Leu) | |
| MT | m.12414T>A | CA913170257 | MT-ND5 | c.78T>A (p.Pro26=) | |
| MT | m.12414T>C | CA337099483 | MT-ND5 | c.78T>C (p.Pro26=) | dbSNP |
| MT | m.12414T>G | CA913170258 | MT-ND5 | c.78T>G (p.Pro26=) | |
| MT | m.12414T= | CA2499567577 | MT-ND5 | c.78T= (p.Pro26=) | |
| MT | m.12415A= | CA2573329459 | MT-ND5 | c.79A= (p.Asn27=) | |
| MT | m.12415A>C | CA414813043 | MT-ND5 | c.79A>C (p.Asn27His) | |
| MT | m.12415A>G | CA414813042 | MT-ND5 | c.79A>G (p.Asn27Asp) | dbSNP |
| MT | m.12415A>T | CA414813040 | MT-ND5 | c.79A>T (p.Asn27Tyr) | |
| MT | m.12416A= | CA2573329461 | MT-ND5 | c.80A= (p.Asn27=) | |
| MT | m.12416A>C | CA414813046 | MT-ND5 | c.80A>C (p.Asn27Thr) | |
| MT | m.12416A>G | CA414813048 | MT-ND5 | c.80A>G (p.Asn27Ser) | |
| MT | m.12416A>T | CA414813049 | MT-ND5 | c.80A>T (p.Asn27Ile) | |
| MT | m.12417C>A | CA414813052 | MT-ND5 | c.81C>A (p.Asn27Lys) | dbSNP |
| MT | m.12417C= | CA2499567578 | MT-ND5 | c.81C= (p.Asn27=) | |
| MT | m.12417C>G | CA414813053 | MT-ND5 | c.81C>G (p.Asn27Lys) | |
| MT | m.12417C>T | CA913170262 | MT-ND5 | c.81C>T (p.Asn27=) | dbSNP |
| MT | m.12417_12418delinsCA | CA2499567579 | MT-ND5 | c.81_82delinsCA (p.Asn27=) | |
| MT | m.12418A= | CA2573329464 | MT-ND5 | c.82A= (p.Lys28=) | |
| MT | m.12418A>C | CA414813056 | MT-ND5 | c.82A>C (p.Lys28Gln) | |
| MT | m.12418A>G | CA414813057 | MT-ND5 | c.82A>G (p.Lys28Glu) | |
| MT | m.12418A>T | CA414813059 | MT-ND5 | c.82A>T (p.Lys28Ter) | |
| MT | m.12425dup | CA920603152 | MT-ND5 | c.89dup (p.Asn30LysfsTer?) | dbSNP |
| MT | m.12425del | CA915952147 | MT-ND5 | c.89del (p.Asn30ThrfsTer7) | ClinVar dbSNP |
| MT | m.12419A= | CA2573329465 | MT-ND5 | c.83A= (p.Lys28=) | |
| MT | m.12419A>C | CA414813061 | MT-ND5 | c.83A>C (p.Lys28Thr) | |
| MT | m.12419A>G | CA414813063 | MT-ND5 | c.83A>G (p.Lys28Arg) | |
| MT | m.12419A>T | CA414813065 | MT-ND5 | c.83A>T (p.Lys28Ile) | |
| MT | m.12420A= | CA2573329467 | MT-ND5 | c.84A= (p.Lys28=) | |
| MT | m.12420A>C | CA414813068 | MT-ND5 | c.84A>C (p.Lys28Asn) | |
| MT | m.12420A>G | CA913170264 | MT-ND5 | c.84A>G (p.Lys28=) | |
| MT | m.12420A>T | CA414813069 | MT-ND5 | c.84A>T (p.Lys28Asn) | |
| MT | m.12421A= | CA2573329468 | MT-ND5 | c.85A= (p.Lys29=) | |
| MT | m.12421A>C | CA414813074 | MT-ND5 | c.85A>C (p.Lys29Gln) | |
| MT | m.12421A>G | CA414813075 | MT-ND5 | c.85A>G (p.Lys29Glu) | |
| MT | m.12421A>T | CA414813072 | MT-ND5 | c.85A>T (p.Lys29Ter) |