| 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.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) | |
| MT | m.12422A= | CA2573329469 | MT-ND5 | c.86A= (p.Lys29=) | |
| MT | m.12422A>C | CA414813077 | MT-ND5 | c.86A>C (p.Lys29Thr) | |
| MT | m.12422A>G | CA414813079 | MT-ND5 | c.86A>G (p.Lys29Arg) | |
| MT | m.12422A>T | CA414813081 | MT-ND5 | c.86A>T (p.Lys29Ile) | |
| MT | m.12423A= | CA2499567580 | MT-ND5 | c.87A= (p.Lys29=) | |
| MT | m.12423A>C | CA414813083 | MT-ND5 | c.87A>C (p.Lys29Asn) | |
| MT | m.12423A>G | CA913170268 | MT-ND5 | c.87A>G (p.Lys29=) | dbSNP |
| MT | m.12423A>T | CA414813085 | MT-ND5 | c.87A>T (p.Lys29Asn) | |
| MT | m.12424A= | CA2499567581 | MT-ND5 | c.88A= (p.Asn30=) | |
| MT | m.12424A>C | CA414813087 | MT-ND5 | c.88A>C (p.Asn30His) | |
| MT | m.12424A>G | CA414813089 | MT-ND5 | c.88A>G (p.Asn30Asp) | ClinVar dbSNP |
| MT | m.12424A>T | CA414813091 | MT-ND5 | c.88A>T (p.Asn30Tyr) | |
| MT | m.12425A= | CA2499567582 | MT-ND5 | c.89A= (p.Asn30=) | |
| MT | m.12425A>C | CA414813093 | MT-ND5 | c.89A>C (p.Asn30Thr) | |
| MT | m.12425A>G | CA414813095 | MT-ND5 | c.89A>G (p.Asn30Ser) | ClinVar dbSNP |
| MT | m.12425A>T | CA414813097 | MT-ND5 | c.89A>T (p.Asn30Ile) | |
| MT | m.12426C>A | CA414813102 | MT-ND5 | c.90C>A (p.Asn30Lys) | ClinVar dbSNP |
| MT | m.12426C= | CA2499567583 | MT-ND5 | c.90C= (p.Asn30=) | |
| MT | m.12426C>G | CA337099487 | MT-ND5 | c.90C>G (p.Asn30Lys) | |
| MT | m.12426C>T | CA337099485 | MT-ND5 | c.90C>T (p.Asn30=) | |
| MT | m.12427T>A | CA414813105 | MT-ND5 | c.91T>A (p.Ser31Thr) | |
| MT | m.12427T>C | CA414813106 | MT-ND5 | c.91T>C (p.Ser31Pro) | dbSNP |
| MT | m.12427T>G | CA414813107 | MT-ND5 | c.91T>G (p.Ser31Ala) | |
| MT | m.12427T= | CA2499567584 | MT-ND5 | c.91T= (p.Ser31=) | |
| MT | m.12428C>A | CA414813111 | MT-ND5 | c.92C>A (p.Ser31Ter) | |
| MT | m.12428C= | CA2573329479 | MT-ND5 | c.92C= (p.Ser31=) | |
| MT | m.12428C>G | CA414813112 | MT-ND5 | c.92C>G (p.Ser31Ter) | |
| MT | m.12428C>T | CA414813114 | MT-ND5 | c.92C>T (p.Ser31Leu) | |
| MT | m.12429A= | CA2499567585 | MT-ND5 | c.93A= (p.Ser31=) | |
| MT | m.12429A>C | CA913170269 | MT-ND5 | c.93A>C (p.Ser31=) | |
| MT | m.12429A>G | CA913170270 | MT-ND5 | c.93A>G (p.Ser31=) | dbSNP |
| MT | m.12429A>T | CA913170274 | MT-ND5 | c.93A>T (p.Ser31=) | |
| MT | m.12430T>A | CA414813116 | MT-ND5 | c.94T>A (p.Tyr32Asn) | |
| MT | m.12430T>C | CA414813118 | MT-ND5 | c.94T>C (p.Tyr32His) | |
| MT | m.12430T>G | CA414813119 | MT-ND5 | c.94T>G (p.Tyr32Asp) | |
| MT | m.12430T= | CA2573329483 | MT-ND5 | c.94T= (p.Tyr32=) | |
| MT | m.12431A= | CA2573329484 | MT-ND5 | c.95A= (p.Tyr32=) | |
| MT | m.12431A>C | CA414813122 | MT-ND5 | c.95A>C (p.Tyr32Ser) | |
| MT | m.12431A>G | CA414813124 | MT-ND5 | c.95A>G (p.Tyr32Cys) | |
| MT | m.12431A>T | CA414813125 | MT-ND5 | c.95A>T (p.Tyr32Phe) | |
| MT | m.12432C>A | CA414813128 | MT-ND5 | c.96C>A (p.Tyr32Ter) | |
| MT | m.12432C= | CA2499567586 | MT-ND5 | c.96C= (p.Tyr32=) | |
| MT | m.12432C>G | CA414813130 | MT-ND5 | c.96C>G (p.Tyr32Ter) | |
| MT | m.12432C>T | CA10581323 | MT-ND5 | c.96C>T (p.Tyr32=) | ClinVar dbSNP |
| MT | m.12436dup | CA2740098377 | MT-ND5 | c.100dup (p.His34ProfsTer?) | |
| MT | m.12436del | CA2739234597 | MT-ND5 | c.100del (p.His34IlefsTer3) | dbSNP |
| MT | m.12433C>A | CA414813133 | MT-ND5 | c.97C>A (p.Pro33Thr) | |
| MT | m.12433C= | CA2573329487 | MT-ND5 | c.97C= (p.Pro33=) | |
| MT | m.12433C>G | CA414813134 | MT-ND5 | c.97C>G (p.Pro33Ala) | |
| MT | m.12433C>T | CA414813136 | MT-ND5 | c.97C>T (p.Pro33Ser) | |
| MT | m.12434C>A | CA414813138 | MT-ND5 | c.98C>A (p.Pro33His) | |
| MT | m.12434C= | CA2573329489 | MT-ND5 | c.98C= (p.Pro33=) | |
| MT | m.12434C>G | CA414813140 | MT-ND5 | c.98C>G (p.Pro33Arg) | |
| MT | m.12434C>T | CA414813142 | MT-ND5 | c.98C>T (p.Pro33Leu) | |
| MT | m.12435C>A | CA913170277 | MT-ND5 | c.99C>A (p.Pro33=) | |
| MT | m.12435C= | CA2573329491 | MT-ND5 | c.99C= (p.Pro33=) | |
| MT | m.12435C>G | CA913170278 | MT-ND5 | c.99C>G (p.Pro33=) | |
| MT | m.12435C>T | CA913170279 | MT-ND5 | c.99C>T (p.Pro33=) | |
| MT | m.12436C>A | CA414813148 | MT-ND5 | c.100C>A (p.His34Asn) | |
| MT | m.12436C= | CA2499567587 | MT-ND5 | c.100C= (p.His34=) | |
| MT | m.12436C>G | CA414813144 | MT-ND5 | c.100C>G (p.His34Asp) | |
| MT | m.12436C>T | CA414813146 | MT-ND5 | c.100C>T (p.His34Tyr) | ClinVar dbSNP |
| MT | m.12437A= | CA2499567588 | MT-ND5 | c.101A= (p.His34=) | |
| MT | m.12437A>C | CA414813151 | MT-ND5 | c.101A>C (p.His34Pro) | |
| MT | m.12437A>G | CA414813153 | MT-ND5 | c.101A>G (p.His34Arg) | ClinVar dbSNP |
| MT | m.12437A>T | CA414813155 | MT-ND5 | c.101A>T (p.His34Leu) | |
| MT | m.12438T>A | CA414813158 | MT-ND5 | c.102T>A (p.His34Gln) | dbSNP |
| MT | m.12438T>C | CA913170280 | MT-ND5 | c.102T>C (p.His34=) | dbSNP |
| MT | m.12438T>G | CA414813159 | MT-ND5 | c.102T>G (p.His34Gln) | |
| MT | m.12438T= | CA2499567589 | MT-ND5 | c.102T= (p.His34=) | |
| MT | m.12439T>A | CA414813161 | MT-ND5 | c.103T>A (p.Tyr35Asn) | |
| MT | m.12439T>C | CA414813165 | MT-ND5 | c.103T>C (p.Tyr35His) | dbSNP |
| MT | m.12439T>G | CA414813163 | MT-ND5 | c.103T>G (p.Tyr35Asp) | |
| MT | m.12439T= | CA2499567590 | MT-ND5 | c.103T= (p.Tyr35=) | |
| MT | m.12440A= | CA2573329499 | MT-ND5 | c.104A= (p.Tyr35=) | |
| MT | m.12440A>C | CA414813167 | MT-ND5 | c.104A>C (p.Tyr35Ser) | |
| MT | m.12440A>G | CA414813169 | MT-ND5 | c.104A>G (p.Tyr35Cys) | |
| MT | m.12440A>T | CA414813171 | MT-ND5 | c.104A>T (p.Tyr35Phe) | |
| MT | m.12441T>A | CA414813174 | MT-ND5 | c.105T>A (p.Tyr35Ter) | |
| MT | m.12441T>C | CA913170283 | MT-ND5 | c.105T>C (p.Tyr35=) | dbSNP |
| MT | m.12441T>G | CA414813175 | MT-ND5 | c.105T>G (p.Tyr35Ter) | |
| MT | m.12441T= | CA2499567591 | MT-ND5 | c.105T= (p.Tyr35=) | |
| MT | m.12442G>A | CA414813178 | MT-ND5 | c.106G>A (p.Val36Ile) | dbSNP |
| MT | m.12442G>C | CA414813180 | MT-ND5 | c.106G>C (p.Val36Leu) | |
| MT | m.12442G= | CA2499567592 | MT-ND5 | c.106G= (p.Val36=) | |
| MT | m.12442G>T | CA414813181 | MT-ND5 | c.106G>T (p.Val36Leu) | |
| MT | m.12443T>A | CA414813184 | MT-ND5 | c.107T>A (p.Val36Glu) | |
| MT | m.12443T>C | CA414813186 | MT-ND5 | c.107T>C (p.Val36Ala) | |
| MT | m.12443T>G | CA414813187 | MT-ND5 | c.107T>G (p.Val36Gly) | |
| MT | m.12443T= | CA2573329505 | MT-ND5 | c.107T= (p.Val36=) | |
| MT | m.12444A= | CA2499567593 | MT-ND5 | c.108A= (p.Val36=) | |
| MT | m.12444A>C | CA913170284 | MT-ND5 | c.108A>C (p.Val36=) | |
| MT | m.12444A>G | CA913170286 | MT-ND5 | c.108A>G (p.Val36=) | dbSNP |
| MT | m.12444A>T | CA913170285 | MT-ND5 | c.108A>T (p.Val36=) | |
| MT | m.12445A= | CA2573329509 | MT-ND5 | c.109A= (p.Lys37=) | |
| MT | m.12445A>C | CA414813190 | MT-ND5 | c.109A>C (p.Lys37Gln) | |
| MT | m.12445A>G | CA414813194 | MT-ND5 | c.109A>G (p.Lys37Glu) | |
| MT | m.12445A>T | CA414813192 | MT-ND5 | c.109A>T (p.Lys37Ter) | |
| MT | m.12446A= | CA2573329514 | MT-ND5 | c.110A= (p.Lys37=) | |
| MT | m.12446A>C | CA414813196 | MT-ND5 | c.110A>C (p.Lys37Thr) | |
| MT | m.12446A>G | CA414813197 | MT-ND5 | c.110A>G (p.Lys37Arg) | |
| MT | m.12446A>T | CA414813199 | MT-ND5 | c.110A>T (p.Lys37Ile) | |
| MT | m.12447A= | CA2499567594 | MT-ND5 | c.111A= (p.Lys37=) | |
| MT | m.12447A>C | CA414813202 | MT-ND5 | c.111A>C (p.Lys37Asn) | |
| MT | m.12447A>G | CA913170292 | MT-ND5 | c.111A>G (p.Lys37=) | dbSNP |
| MT | m.12447A>T | CA414813203 | MT-ND5 | c.111A>T (p.Lys37Asn) | |
| MT | m.12448T>A | CA414813206 | MT-ND5 | c.112T>A (p.Ser38Thr) | ClinVar dbSNP |
| MT | m.12448T>C | CA414813208 | MT-ND5 | c.112T>C (p.Ser38Pro) | ClinVar dbSNP |
| MT | m.12448T>G | CA414813210 | MT-ND5 | c.112T>G (p.Ser38Ala) | |
| MT | m.12448T= | CA2499567595 | MT-ND5 | c.112T= (p.Ser38=) | |
| MT | m.12449C>A | CA414813212 | MT-ND5 | c.113C>A (p.Ser38Tyr) | |
| MT | m.12449C= | CA2573329523 | MT-ND5 | c.113C= (p.Ser38=) | |
| MT | m.12449C>G | CA414813214 | MT-ND5 | c.113C>G (p.Ser38Cys) | |
| MT | m.12449C>T | CA414813216 | MT-ND5 | c.113C>T (p.Ser38Phe) | |
| MT | m.12450C>A | CA913170293 | MT-ND5 | c.114C>A (p.Ser38=) | |
| MT | m.12450C= | CA2573329528 | MT-ND5 | c.114C= (p.Ser38=) | |
| MT | m.12450C>G | CA913170295 | MT-ND5 | c.114C>G (p.Ser38=) | |
| MT | m.12450C>T | CA913170296 | MT-ND5 | c.114C>T (p.Ser38=) | |
| MT | m.12451A= | CA2499567596 | MT-ND5 | c.115A= (p.Ile39=) | |
| MT | m.12451A>C | CA414813222 | MT-ND5 | c.115A>C (p.Ile39Leu) | |
| MT | m.12451A>G | CA414813218 | MT-ND5 | c.115A>G (p.Ile39Val) | ClinVar dbSNP |
| MT | m.12451A>T | CA414813220 | MT-ND5 | c.115A>T (p.Ile39Phe) | |
| MT | m.12452T>A | CA414813225 | MT-ND5 | c.116T>A (p.Ile39Asn) | |
| MT | m.12452T>C | CA414813227 | MT-ND5 | c.116T>C (p.Ile39Thr) | |
| MT | m.12452T>G | CA414813228 | MT-ND5 | c.116T>G (p.Ile39Ser) | |
| MT | m.12452T= | CA2573329532 | MT-ND5 | c.116T= (p.Ile39=) | |
| MT | m.12453T>A | CA913170300 | MT-ND5 | c.117T>A (p.Ile39=) | |
| MT | m.12453T>C | CA913170299 | MT-ND5 | c.117T>C (p.Ile39=) | dbSNP |
| MT | m.12453T>G | CA414813230 | MT-ND5 | c.117T>G (p.Ile39Met) | |
| MT | m.12453T= | CA2499567597 | MT-ND5 | c.117T= (p.Ile39=) | |
| MT | m.12454G>A | CA337099490 | MT-ND5 | c.118G>A (p.Val40Ile) | ClinVar dbSNP |
| MT | m.12454G>C | CA414813234 | MT-ND5 | c.118G>C (p.Val40Leu) | |
| MT | m.12454G= | CA2499567598 | MT-ND5 | c.118G= (p.Val40=) | |
| MT | m.12454G>T | CA414813236 | MT-ND5 | c.118G>T (p.Val40Phe) | |
| MT | m.12455T>A | CA414813238 | MT-ND5 | c.119T>A (p.Val40Asp) | |
| MT | m.12455T>C | CA414813240 | MT-ND5 | c.119T>C (p.Val40Ala) | |
| MT | m.12455T>G | CA414813242 | MT-ND5 | c.119T>G (p.Val40Gly) | |
| MT | m.12455T= | CA2573329537 | MT-ND5 | c.119T= (p.Val40=) | |
| MT | m.12456C>A | CA913170304 | MT-ND5 | c.120C>A (p.Val40=) | |
| MT | m.12456C= | CA2573329540 | MT-ND5 | c.120C= (p.Val40=) | |
| MT | m.12456C>G | CA913170305 | MT-ND5 | c.120C>G (p.Val40=) | |
| MT | m.12456C>T | CA913170306 | MT-ND5 | c.120C>T (p.Val40=) | |
| MT | m.12457G>A | CA414813249 | MT-ND5 | c.121G>A (p.Ala41Thr) | ClinVar dbSNP COSMIC |
| MT | m.12457G>C | CA414813246 | MT-ND5 | c.121G>C (p.Ala41Pro) | |
| MT | m.12457G= | CA2499567599 | MT-ND5 | c.121G= (p.Ala41=) | |
| MT | m.12457G>T | CA414813244 | MT-ND5 | c.121G>T (p.Ala41Ser) | |
| MT | m.12458C>A | CA414813251 | MT-ND5 | c.122C>A (p.Ala41Glu) | |
| MT | m.12458C= | CA2499567600 | MT-ND5 | c.122C= (p.Ala41=) | |
| MT | m.12458C>G | CA414813254 | MT-ND5 | c.122C>G (p.Ala41Gly) | |
| MT | m.12458C>T | CA414813253 | MT-ND5 | c.122C>T (p.Ala41Val) | ClinVar dbSNP |
| MT | m.12459A= | CA2573329545 | MT-ND5 | c.123A= (p.Ala41=) | |
| MT | m.12459A>C | CA913170307 | MT-ND5 | c.123A>C (p.Ala41=) | |
| MT | m.12459A>G | CA913170309 | MT-ND5 | c.123A>G (p.Ala41=) | |
| MT | m.12459A>T | CA913170310 | MT-ND5 | c.123A>T (p.Ala41=) | |
| MT | m.12460T>A | CA414813257 | MT-ND5 | c.124T>A (p.Ser42Thr) | |
| MT | m.12460T>C | CA414813260 | MT-ND5 | c.124T>C (p.Ser42Pro) | |
| MT | m.12460T>G | CA414813259 | MT-ND5 | c.124T>G (p.Ser42Ala) | |
| MT | m.12460T= | CA2573329548 | MT-ND5 | c.124T= (p.Ser42=) | |
| MT | m.12461C>A | CA414813263 | MT-ND5 | c.125C>A (p.Ser42Tyr) | |
| MT | m.12461C= | CA2573329550 | MT-ND5 | c.125C= (p.Ser42=) | |
| MT | m.12461C>G | CA414813266 | MT-ND5 | c.125C>G (p.Ser42Cys) | |
| MT | m.12461C>T | CA414813265 | MT-ND5 | c.125C>T (p.Ser42Phe) | |
| MT | m.12462C>A | CA913170311 | MT-ND5 | c.126C>A (p.Ser42=) | |
| MT | m.12462C= | CA2573329552 | MT-ND5 | c.126C= (p.Ser42=) | |
| MT | m.12462C>G | CA913170314 | MT-ND5 | c.126C>G (p.Ser42=) | |
| MT | m.12462C>T | CA913170313 | MT-ND5 | c.126C>T (p.Ser42=) | |
| MT | m.12463A= | CA2573329555 | MT-ND5 | c.127A= (p.Thr43=) | |
| MT | m.12463A>C | CA414813269 | MT-ND5 | c.127A>C (p.Thr43Pro) | |
| MT | m.12463A>G | CA414813271 | MT-ND5 | c.127A>G (p.Thr43Ala) | |
| MT | m.12463A>T | CA414813273 | MT-ND5 | c.127A>T (p.Thr43Ser) | |
| MT | m.12464C>A | CA414813276 | MT-ND5 | c.128C>A (p.Thr43Asn) | |
| MT | m.12464C= | CA2573329558 | MT-ND5 | c.128C= (p.Thr43=) | |
| MT | m.12464C>G | CA414813277 | MT-ND5 | c.128C>G (p.Thr43Ser) | |
| MT | m.12464C>T | CA414813280 | MT-ND5 | c.128C>T (p.Thr43Ile) | |
| MT | m.12465C>A | CA913170315 | MT-ND5 | c.129C>A (p.Thr43=) | |
| MT | m.12465C= | CA2499567601 | MT-ND5 | c.129C= (p.Thr43=) | |
| MT | m.12465C>G | CA913170318 | MT-ND5 | c.129C>G (p.Thr43=) | |
| MT | m.12465C>T | CA913170316 | MT-ND5 | c.129C>T (p.Thr43=) | dbSNP |
| MT | m.12466T>A | CA414813286 | MT-ND5 | c.130T>A (p.Phe44Ile) | |
| MT | m.12466T>C | CA414813282 | MT-ND5 | c.130T>C (p.Phe44Leu) | |
| MT | m.12466T>G | CA414813284 | MT-ND5 | c.130T>G (p.Phe44Val) | |
| MT | m.12466T= | CA2573329560 | MT-ND5 | c.130T= (p.Phe44=) | |
| MT | m.12467T>A | CA414813288 | MT-ND5 | c.131T>A (p.Phe44Tyr) | |
| MT | m.12467T>C | CA414813290 | MT-ND5 | c.131T>C (p.Phe44Ser) | |
| MT | m.12467T>G | CA414813292 | MT-ND5 | c.131T>G (p.Phe44Cys) | |
| MT | m.12467T= | CA2573329561 | MT-ND5 | c.131T= (p.Phe44=) | |
| MT | m.12468T>A | CA414813294 | MT-ND5 | c.132T>A (p.Phe44Leu) | |
| MT | m.12468T>C | CA913170327 | MT-ND5 | c.132T>C (p.Phe44=) | dbSNP |
| MT | m.12468T>G | CA414813296 | MT-ND5 | c.132T>G (p.Phe44Leu) | |
| MT | m.12468T= | CA2499567602 | MT-ND5 | c.132T= (p.Phe44=) | |
| MT | m.12469A= | CA2499567603 | MT-ND5 | c.133A= (p.Ile45=) | |
| MT | m.12469A>C | CA414813298 | MT-ND5 | c.133A>C (p.Ile45Leu) | |
| MT | m.12469A>G | CA414813302 | MT-ND5 | c.133A>G (p.Ile45Val) | dbSNP |
| MT | m.12469A>T | CA414813300 | MT-ND5 | c.133A>T (p.Ile45Phe) | |
| MT | m.12470T>A | CA414813305 | MT-ND5 | c.134T>A (p.Ile45Asn) | |
| MT | m.12470T>C | CA414813306 | MT-ND5 | c.134T>C (p.Ile45Thr) | |
| MT | m.12470T>G | CA414813308 | MT-ND5 | c.134T>G (p.Ile45Ser) | |
| MT | m.12470T= | CA2573329565 | MT-ND5 | c.134T= (p.Ile45=) | |
| MT | m.12471T>A | CA913170328 | MT-ND5 | c.135T>A (p.Ile45=) | |
| MT | m.12471T>C | CA913170329 | MT-ND5 | c.135T>C (p.Ile45=) | dbSNP |
| MT | m.12471T>G | CA414813310 | MT-ND5 | c.135T>G (p.Ile45Met) | |
| MT | m.12471T= | CA2573329569 | MT-ND5 | c.135T= (p.Ile45=) | |
| MT | m.12472A= | CA2573329571 | MT-ND5 | c.136A= (p.Ile46=) | |
| MT | m.12472A>C | CA414813313 | MT-ND5 | c.136A>C (p.Ile46Leu) | |
| MT | m.12472A>G | CA414813315 | MT-ND5 | c.136A>G (p.Ile46Val) | |
| MT | m.12472A>T | CA414813317 | MT-ND5 | c.136A>T (p.Ile46Phe) | |
| MT | m.12473T>A | CA414813320 | MT-ND5 | c.137T>A (p.Ile46Asn) | |
| MT | m.12473T>C | CA414813322 | MT-ND5 | c.137T>C (p.Ile46Thr) | |
| MT | m.12473T>G | CA414813323 | MT-ND5 | c.137T>G (p.Ile46Ser) | |
| MT | m.12473T= | CA2573329573 | MT-ND5 | c.137T= (p.Ile46=) | |
| MT | m.12474C>A | CA913170334 | MT-ND5 | c.138C>A (p.Ile46=) | |
| MT | m.12474C= | CA2499567604 | MT-ND5 | c.138C= (p.Ile46=) | |
| MT | m.12474C>G | CA414813326 | MT-ND5 | c.138C>G (p.Ile46Met) | |
| MT | m.12474C>T | CA913170333 | MT-ND5 | c.138C>T (p.Ile46=) | dbSNP |
| MT | m.12475A= | CA2573329574 | MT-ND5 | c.139A= (p.Ser47=) | |
| MT | m.12475A>C | CA414813332 | MT-ND5 | c.139A>C (p.Ser47Arg) | |
| MT | m.12475A>G | CA414813328 | MT-ND5 | c.139A>G (p.Ser47Gly) | |
| MT | m.12475A>T | CA414813330 | MT-ND5 | c.139A>T (p.Ser47Cys) | |
| MT | m.12476G>A | CA414813334 | MT-ND5 | c.140G>A (p.Ser47Asn) | dbSNP |
| MT | m.12476G>C | CA414813336 | MT-ND5 | c.140G>C (p.Ser47Thr) | |
| MT | m.12476G= | CA2499567605 | MT-ND5 | c.140G= (p.Ser47=) | |
| MT | m.12476G>T | CA414813338 | MT-ND5 | c.140G>T (p.Ser47Ile) | |
| MT | m.12477T>A | CA414813340 | MT-ND5 | c.141T>A (p.Ser47Arg) | |
| MT | m.12477T>C | CA337099492 | MT-ND5 | c.141T>C (p.Ser47=) | dbSNP |
| MT | m.12477T>G | CA414813343 | MT-ND5 | c.141T>G (p.Ser47Arg) | |
| MT | m.12477T= | CA2499567606 | MT-ND5 | c.141T= (p.Ser47=) | |
| MT | m.12478C>A | CA414813345 | MT-ND5 | c.142C>A (p.Leu48Ile) | |
| MT | m.12478C= | CA2573329578 | MT-ND5 | c.142C= (p.Leu48=) | |
| MT | m.12478C>G | CA414813347 | MT-ND5 | c.142C>G (p.Leu48Val) | |
| MT | m.12478C>T | CA414813349 | MT-ND5 | c.142C>T (p.Leu48Phe) | |
| MT | m.12479T>A | CA414813351 | MT-ND5 | c.143T>A (p.Leu48His) | |
| MT | m.12479T>C | CA414813354 | MT-ND5 | c.143T>C (p.Leu48Pro) | ClinVar dbSNP |
| MT | m.12479T>G | CA414813355 | MT-ND5 | c.143T>G (p.Leu48Arg) | |
| MT | m.12479T= | CA2499567607 | MT-ND5 | c.143T= (p.Leu48=) | |
| MT | m.12480C>A | CA913170340 | MT-ND5 | c.144C>A (p.Leu48=) | |
| MT | m.12480C= | CA2499567608 | MT-ND5 | c.144C= (p.Leu48=) | |
| MT | m.12480C>G | CA913170341 | MT-ND5 | c.144C>G (p.Leu48=) | |
| MT | m.12480C>T | CA913170342 | MT-ND5 | c.144C>T (p.Leu48=) | dbSNP |
| MT | m.12481T>A | CA414813361 | MT-ND5 | c.145T>A (p.Phe49Ile) | ClinVar dbSNP |
| MT | m.12481T>C | CA414813358 | MT-ND5 | c.145T>C (p.Phe49Leu) | ClinVar dbSNP |
| MT | m.12481T>G | CA414813360 | MT-ND5 | c.145T>G (p.Phe49Val) | |
| MT | m.12481T= | CA2499567609 | MT-ND5 | c.145T= (p.Phe49=) | |
| MT | m.12482T>A | CA414813364 | MT-ND5 | c.146T>A (p.Phe49Tyr) | |
| MT | m.12482T>C | CA414813365 | MT-ND5 | c.146T>C (p.Phe49Ser) | |
| MT | m.12482T>G | CA414813367 | MT-ND5 | c.146T>G (p.Phe49Cys) | |
| MT | m.12482T= | CA2513684389 | MT-ND5 | c.146T= (p.Phe49=) | |
| MT | m.12483C>A | CA414813370 | MT-ND5 | c.147C>A (p.Phe49Leu) | |
| MT | m.12483C= | CA2573329585 | MT-ND5 | c.147C= (p.Phe49=) | |
| MT | m.12483C>G | CA414813372 | MT-ND5 | c.147C>G (p.Phe49Leu) | |
| MT | m.12483C>T | CA913170346 | MT-ND5 | c.147C>T (p.Phe49=) | |
| MT | m.12486dup | CA2740098378 | MT-ND5 | c.150dup (p.Thr51HisfsTer?) | |
| MT | m.12484C>A | CA414813374 | MT-ND5 | c.148C>A (p.Pro50Thr) | |
| MT | m.12484C= | CA2573329587 | MT-ND5 | c.148C= (p.Pro50=) | |
| MT | m.12484C>G | CA414813376 | MT-ND5 | c.148C>G (p.Pro50Ala) | |
| MT | m.12484C>T | CA414813377 | MT-ND5 | c.148C>T (p.Pro50Ser) | |
| MT | m.12485C>A | CA414813380 | MT-ND5 | c.149C>A (p.Pro50His) | |
| MT | m.12485C= | CA2573329588 | MT-ND5 | c.149C= (p.Pro50=) | |
| MT | m.12485C>G | CA414813382 | MT-ND5 | c.149C>G (p.Pro50Arg) | |
| MT | m.12485C>T | CA414813384 | MT-ND5 | c.149C>T (p.Pro50Leu) | |
| MT | m.12486C>A | CA913170349 | MT-ND5 | c.150C>A (p.Pro50=) | |
| MT | m.12486C= | CA2499567610 | MT-ND5 | c.150C= (p.Pro50=) | |
| MT | m.12486C>G | CA913170348 | MT-ND5 | c.150C>G (p.Pro50=) | |
| MT | m.12486C>T | CA913170347 | MT-ND5 | c.150C>T (p.Pro50=) | dbSNP |
| MT | m.12487A= | CA2573329589 | MT-ND5 | c.151A= (p.Thr51=) | |
| MT | m.12487A>C | CA414813390 | MT-ND5 | c.151A>C (p.Thr51Pro) | |
| MT | m.12487A>G | CA414813386 | MT-ND5 | c.151A>G (p.Thr51Ala) | |
| MT | m.12487A>T | CA414813388 | MT-ND5 | c.151A>T (p.Thr51Ser) | |
| MT | m.12488C>A | CA414813392 | MT-ND5 | c.152C>A (p.Thr51Lys) | |
| MT | m.12488C= | CA2573329590 | MT-ND5 | c.152C= (p.Thr51=) | |
| MT | m.12488C>G | CA414813394 | MT-ND5 | c.152C>G (p.Thr51Arg) | |
| MT | m.12488C>T | CA414813396 | MT-ND5 | c.152C>T (p.Thr51Ile) | |
| MT | m.12489A= | CA2573329592 | MT-ND5 | c.153A= (p.Thr51=) | |
| MT | m.12489A>C | CA913170351 | MT-ND5 | c.153A>C (p.Thr51=) | |
| MT | m.12489A>G | CA913170353 | MT-ND5 | c.153A>G (p.Thr51=) | dbSNP |
| MT | m.12489A>T | CA913170352 | MT-ND5 | c.153A>T (p.Thr51=) | |
| MT | m.12490A= | CA2499567611 | MT-ND5 | c.154A= (p.Thr52=) | |
| MT | m.12490A>C | CA414813398 | MT-ND5 | c.154A>C (p.Thr52Pro) | |
| MT | m.12490A>G | CA414813400 | MT-ND5 | c.154A>G (p.Thr52Ala) | ClinVar dbSNP |
| MT | m.12490A>T | CA414813402 | MT-ND5 | c.154A>T (p.Thr52Ser) | |
| MT | m.12491C>A | CA414813404 | MT-ND5 | c.155C>A (p.Thr52Lys) | |
| MT | m.12491C= | CA2573329596 | MT-ND5 | c.155C= (p.Thr52=) | |
| MT | m.12491C>G | CA414813406 | MT-ND5 | c.155C>G (p.Thr52Arg) | |
| MT | m.12491C>T | CA414813408 | MT-ND5 | c.155C>T (p.Thr52Ile) | |
| MT | m.12492A= | CA2499567612 | MT-ND5 | c.156A= (p.Thr52=) | |
| MT | m.12492A>C | CA913170356 | MT-ND5 | c.156A>C (p.Thr52=) | |
| MT | m.12492A>G | CA913170355 | MT-ND5 | c.156A>G (p.Thr52=) | dbSNP |
| MT | m.12492A>T | CA913170354 | MT-ND5 | c.156A>T (p.Thr52=) | dbSNP |
| MT | m.12493A= | CA2499567613 | MT-ND5 | c.157A= (p.Ile53=) | |
| MT | m.12493A>C | CA414813411 | MT-ND5 | c.157A>C (p.Ile53Leu) | |
| MT | m.12493A>G | CA414813413 | MT-ND5 | c.157A>G (p.Ile53Val) | ClinVar dbSNP |
| MT | m.12493A>T | CA414813415 | MT-ND5 | c.157A>T (p.Ile53Leu) | |
| MT | m.12495_12496del | CA2573105240 | MT-ND5 | c.159_160del (p.Phe54HisfsTer?) | |
| MT | m.12494T>A | CA414813421 | MT-ND5 | c.158T>A (p.Ile53Lys) | |
| MT | m.12494T>C | CA414813420 | MT-ND5 | c.158T>C (p.Ile53Thr) | dbSNP |
| MT | m.12494T>G | CA414813418 | MT-ND5 | c.158T>G (p.Ile53Arg) | |
| MT | m.12494T= | CA2499567614 | MT-ND5 | c.158T= (p.Ile53=) | |
| MT | m.12495A= | CA2573329601 | MT-ND5 | c.159A= (p.Ile53=) | |
| MT | m.12495A>C | CA913170358 | MT-ND5 | c.159A>C (p.Ile53=) | |
| MT | m.12495A>G | CA414813424 | MT-ND5 | c.159A>G (p.Ile53Met) | |
| MT | m.12495A>T | CA913170357 | MT-ND5 | c.159A>T (p.Ile53=) | |
| MT | m.12496T>A | CA414813426 | MT-ND5 | c.160T>A (p.Phe54Ile) | |
| MT | m.12496T>C | CA414813428 | MT-ND5 | c.160T>C (p.Phe54Leu) | |
| MT | m.12496T>G | CA414813430 | MT-ND5 | c.160T>G (p.Phe54Val) | |
| MT | m.12496T= | CA2573329604 | MT-ND5 | c.160T= (p.Phe54=) | |
| MT | m.12497T>A | CA414813433 | MT-ND5 | c.161T>A (p.Phe54Tyr) | |
| MT | m.12497T>C | CA414813435 | MT-ND5 | c.161T>C (p.Phe54Ser) | |
| MT | m.12497T>G | CA414813436 | MT-ND5 | c.161T>G (p.Phe54Cys) | |
| MT | m.12497T= | CA2513158238 | MT-ND5 | c.161T= (p.Phe54=) | |
| MT | m.12498C>A | CA414813439 | MT-ND5 | c.162C>A (p.Phe54Leu) | |
| MT | m.12498C= | CA2499567615 | MT-ND5 | c.162C= (p.Phe54=) | |
| MT | m.12498C>G | CA414813441 | MT-ND5 | c.162C>G (p.Phe54Leu) | |
| MT | m.12498C>T | CA913170359 | MT-ND5 | c.162C>T (p.Phe54=) | dbSNP |
| MT | m.12499A= | CA2499567616 | MT-ND5 | c.163A= (p.Met55=) | |
| MT | m.12499A>C | CA414813443 | MT-ND5 | c.163A>C (p.Met55Leu) | |
| MT | m.12499A>G | CA414813445 | MT-ND5 | c.163A>G (p.Met55Val) | ClinVar dbSNP |
| MT | m.12499A>T | CA414813447 | MT-ND5 | c.163A>T (p.Met55Leu) | |
| MT | m.12500T>A | CA414813453 | MT-ND5 | c.164T>A (p.Met55Lys) | |
| MT | m.12500T>C | CA414813450 | MT-ND5 | c.164T>C (p.Met55Thr) | COSMIC |
| MT | m.12500T>G | CA414813451 | MT-ND5 | c.164T>G (p.Met55Arg) | |
| MT | m.12500T= | CA2573329610 | MT-ND5 | c.164T= (p.Met55=) | |
| MT | m.12501G>A | CA337099494 | MT-ND5 | c.165G>A (p.Met55Ile) | dbSNP |
| MT | m.12501G>C | CA414813456 | MT-ND5 | c.165G>C (p.Met55Ile) | ClinVar dbSNP |
| MT | m.12501G= | CA2499567617 | MT-ND5 | c.165G= (p.Met55=) | |
| MT | m.12501G>T | CA414813457 | MT-ND5 | c.165G>T (p.Met55Ile) | |
| MT | m.12502T>A | CA414813461 | MT-ND5 | c.166T>A (p.Cys56Ser) | |
| MT | m.12502T>C | CA414813462 | MT-ND5 | c.166T>C (p.Cys56Arg) | |
| MT | m.12502T>G | CA414813463 | MT-ND5 | c.166T>G (p.Cys56Gly) | |
| MT | m.12502T= | CA2573329615 | MT-ND5 | c.166T= (p.Cys56=) | |
| MT | m.12503G>A | CA414813466 | MT-ND5 | c.167G>A (p.Cys56Tyr) | |
| MT | m.12503G>C | CA414813468 | MT-ND5 | c.167G>C (p.Cys56Ser) | |
| MT | m.12503G= | CA2573329617 | MT-ND5 | c.167G= (p.Cys56=) | |
| MT | m.12503G>T | CA414813470 | MT-ND5 | c.167G>T (p.Cys56Phe) | |
| MT | m.12504C>A | CA414813472 | MT-ND5 | c.168C>A (p.Cys56Ter) | |
| MT | m.12504C= | CA2499567618 | MT-ND5 | c.168C= (p.Cys56=) | |
| MT | m.12504C>G | CA414813474 | MT-ND5 | c.168C>G (p.Cys56Trp) | |
| MT | m.12504C>T | CA913170360 | MT-ND5 | c.168C>T (p.Cys56=) | dbSNP |
| MT | m.12505C>A | CA414813476 | MT-ND5 | c.169C>A (p.Leu57Ile) | |
| MT | m.12505C= | CA2499567619 | MT-ND5 | c.169C= (p.Leu57=) | |
| MT | m.12505C>G | CA414813478 | MT-ND5 | c.169C>G (p.Leu57Val) | |
| MT | m.12505C>T | CA913170361 | MT-ND5 | c.169C>T (p.Leu57=) | dbSNP |
| MT | m.12506T>A | CA414813481 | MT-ND5 | c.170T>A (p.Leu57Gln) | |
| MT | m.12506T>C | CA414813485 | MT-ND5 | c.170T>C (p.Leu57Pro) | |
| MT | m.12506T>G | CA414813482 | MT-ND5 | c.170T>G (p.Leu57Arg) | |
| MT | m.12506T= | CA2573329620 | MT-ND5 | c.170T= (p.Leu57=) | |
| MT | m.12507A= | CA2499567620 | MT-ND5 | c.171A= (p.Leu57=) | |
| MT | m.12507A>C | CA913170362 | MT-ND5 | c.171A>C (p.Leu57=) | |
| MT | m.12507A>G | CA337099496 | MT-ND5 | c.171A>G (p.Leu57=) | dbSNP |
| MT | m.12507A>T | CA913170363 | MT-ND5 | c.171A>T (p.Leu57=) | |
| MT | m.12508G>A | CA414813489 | MT-ND5 | c.172G>A (p.Asp58Asn) | COSMIC |
| MT | m.12508G>C | CA414813490 | MT-ND5 | c.172G>C (p.Asp58His) | |
| MT | m.12508G= | CA2573329623 | MT-ND5 | c.172G= (p.Asp58=) | |
| MT | m.12508G>T | CA414813493 | MT-ND5 | c.172G>T (p.Asp58Tyr) | |
| MT | m.12509A= | CA2499567621 | MT-ND5 | c.173A= (p.Asp58=) | |
| MT | m.12509A>C | CA414813495 | MT-ND5 | c.173A>C (p.Asp58Ala) | |
| MT | m.12509A>G | CA414813497 | MT-ND5 | c.173A>G (p.Asp58Gly) | ClinVar dbSNP |
| MT | m.12509A>T | CA414813499 | MT-ND5 | c.173A>T (p.Asp58Val) | |
| MT | m.12510C>A | CA414813501 | MT-ND5 | c.174C>A (p.Asp58Glu) | |
| MT | m.12510C= | CA2499567622 | MT-ND5 | c.174C= (p.Asp58=) | |
| MT | m.12510C>G | CA414813502 | MT-ND5 | c.174C>G (p.Asp58Glu) | |
| MT | m.12510C>T | CA913170364 | MT-ND5 | c.174C>T (p.Asp58=) | dbSNP |
| MT | m.12511C>A | CA414813506 | MT-ND5 | c.175C>A (p.Gln59Lys) | |
| MT | m.12511C= | CA2573329626 | MT-ND5 | c.175C= (p.Gln59=) | |
| MT | m.12511C>G | CA414813509 | MT-ND5 | c.175C>G (p.Gln59Glu) | |
| MT | m.12511C>T | CA414813507 | MT-ND5 | c.175C>T (p.Gln59Ter) | |
| MT | m.12512A= | CA2499567623 | MT-ND5 | c.176A= (p.Gln59=) | |
| MT | m.12512A>C | CA414813511 | MT-ND5 | c.176A>C (p.Gln59Pro) | |
| MT | m.12512A>G | CA414813513 | MT-ND5 | c.176A>G (p.Gln59Arg) | |
| MT | m.12512A>T | CA414813515 | MT-ND5 | c.176A>T (p.Gln59Leu) | ClinVar dbSNP |
| MT | m.12513A= | CA2499567624 | MT-ND5 | c.177A= (p.Gln59=) | |
| MT | m.12513A>C | CA414813518 | MT-ND5 | c.177A>C (p.Gln59His) | |
| MT | m.12513A>G | CA913170365 | MT-ND5 | c.177A>G (p.Gln59=) | dbSNP |
| MT | m.12513A>T | CA414813520 | MT-ND5 | c.177A>T (p.Gln59His) | |
| MT | m.12514G>A | CA414813523 | MT-ND5 | c.178G>A (p.Glu60Lys) | |
| MT | m.12514G>C | CA414813525 | MT-ND5 | c.178G>C (p.Glu60Gln) | |
| MT | m.12514G= | CA2573329630 | MT-ND5 | c.178G= (p.Glu60=) | |
| MT | m.12514G>T | CA414813526 | MT-ND5 | c.178G>T (p.Glu60Ter) | |
| MT | m.12515A= | CA2573329632 | MT-ND5 | c.179A= (p.Glu60=) | |
| MT | m.12515A>C | CA414813529 | MT-ND5 | c.179A>C (p.Glu60Ala) | |
| MT | m.12515A>G | CA414813531 | MT-ND5 | c.179A>G (p.Glu60Gly) | |
| MT | m.12515A>T | CA414813532 | MT-ND5 | c.179A>T (p.Glu60Val) | |
| MT | m.12516A= | CA2573329634 | MT-ND5 | c.180A= (p.Glu60=) | |
| MT | m.12516A>C | CA414813534 | MT-ND5 | c.180A>C (p.Glu60Asp) | |
| MT | m.12516A>G | CA913170366 | MT-ND5 | c.180A>G (p.Glu60=) | |
| MT | m.12516A>T | CA414813536 | MT-ND5 | c.180A>T (p.Glu60Asp) | |
| MT | m.12517G>A | CA414813542 | MT-ND5 | c.181G>A (p.Val61Ile) | |
| MT | m.12517G>C | CA414813538 | MT-ND5 | c.181G>C (p.Val61Leu) | |
| MT | m.12517G= | CA2573329636 | MT-ND5 | c.181G= (p.Val61=) | |
| MT | m.12517G>T | CA414813539 | MT-ND5 | c.181G>T (p.Val61Phe) | |
| MT | m.12518T>A | CA414813544 | MT-ND5 | c.182T>A (p.Val61Asp) | |
| MT | m.12518T>C | CA414813546 | MT-ND5 | c.182T>C (p.Val61Ala) | COSMIC |
| MT | m.12518T>G | CA414813548 | MT-ND5 | c.182T>G (p.Val61Gly) | |
| MT | m.12518T= | CA2573329637 | MT-ND5 | c.182T= (p.Val61=) |