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.3730T>A | CA414773392 | MT-ND1 | c.424T>A (p.Tyr142Asn) | |
| MT | m.3730T>C | CA414773393 | MT-ND1 | c.424T>C (p.Tyr142His) | |
| MT | m.3730T>G | CA414773394 | MT-ND1 | c.424T>G (p.Tyr142Asp) | |
| MT | m.3730T= | CA2573328423 | MT-ND1 | c.424T= (p.Tyr142=) | |
| MT | m.3731A= | CA2573328427 | MT-ND1 | c.425A= (p.Tyr142=) | |
| MT | m.3731A>C | CA414773395 | MT-ND1 | c.425A>C (p.Tyr142Ser) | |
| MT | m.3731A>G | CA414773396 | MT-ND1 | c.425A>G (p.Tyr142Cys) | |
| MT | m.3731A>T | CA414773397 | MT-ND1 | c.425A>T (p.Tyr142Phe) | |
| MT | m.3732T>A | CA414773398 | MT-ND1 | c.426T>A (p.Tyr142Ter) | |
| MT | m.3732T>C | CA645608452 | MT-ND1 | c.426T>C (p.Tyr142=) | dbSNP COSMIC COSMIC |
| MT | m.3732T>G | CA337096655 | MT-ND1 | c.426T>G (p.Tyr142Ter) | dbSNP |
| MT | m.3732T= | CA2499563573 | MT-ND1 | c.426T= (p.Tyr142=) | |
| MT | m.3733G>A | CA340950 | MT-ND1 | c.427G>A (p.Glu143Lys) | ClinVar dbSNP |
| MT | m.3733G>C | CA414773399 | MT-ND1 | c.427G>C (p.Glu143Gln) | |
| MT | m.3733G= | CA2499563574 | MT-ND1 | c.427G= (p.Glu143=) | |
| MT | m.3733G>T | CA414773400 | MT-ND1 | c.427G>T (p.Glu143Ter) | |
| MT | m.3734A= | CA2499563575 | MT-ND1 | c.428A= (p.Glu143=) | |
| MT | m.3734A>C | CA414773401 | MT-ND1 | c.428A>C (p.Glu143Ala) | |
| MT | m.3734A>G | CA414773403 | MT-ND1 | c.428A>G (p.Glu143Gly) | dbSNP |
| MT | m.3734A>T | CA414773402 | MT-ND1 | c.428A>T (p.Glu143Val) | |
| MT | m.3735A= | CA2499563576 | MT-ND1 | c.429A= (p.Glu143=) | |
| MT | m.3735A>C | CA414773404 | MT-ND1 | c.429A>C (p.Glu143Asp) | |
| MT | m.3735A>G | CA913170226 | MT-ND1 | c.429A>G (p.Glu143=) | dbSNP |
| MT | m.3735A>T | CA414773405 | MT-ND1 | c.429A>T (p.Glu143Asp) | |
| MT | m.3736G>A | CA337096658 | MT-ND1 | c.430G>A (p.Val144Ile) | ClinVar dbSNP |
| MT | m.3736G>C | CA414773406 | MT-ND1 | c.430G>C (p.Val144Leu) | dbSNP |
| MT | m.3736G= | CA2499563577 | MT-ND1 | c.430G= (p.Val144=) | |
| MT | m.3736G>T | CA414773407 | MT-ND1 | c.430G>T (p.Val144Phe) | |
| MT | m.3737T>A | CA414773408 | MT-ND1 | c.431T>A (p.Val144Asp) | |
| MT | m.3737T>C | CA414773409 | MT-ND1 | c.431T>C (p.Val144Ala) | dbSNP |
| MT | m.3737T>G | CA414773410 | MT-ND1 | c.431T>G (p.Val144Gly) | |
| MT | m.3737T= | CA2499563578 | MT-ND1 | c.431T= (p.Val144=) | |
| MT | m.3738C>A | CA913170230 | MT-ND1 | c.432C>A (p.Val144=) | |
| MT | m.3738C= | CA2499563579 | MT-ND1 | c.432C= (p.Val144=) | |
| MT | m.3738C>G | CA913170231 | MT-ND1 | c.432C>G (p.Val144=) | |
| MT | m.3738C>T | CA337096660 | MT-ND1 | c.432C>T (p.Val144=) | dbSNP |
| MT | m.3739A= | CA2573328443 | MT-ND1 | c.433A= (p.Thr145=) | |
| MT | m.3739A>C | CA414773412 | MT-ND1 | c.433A>C (p.Thr145Pro) | |
| MT | m.3739A>G | CA414773413 | MT-ND1 | c.433A>G (p.Thr145Ala) | |
| MT | m.3739A>T | CA414773411 | MT-ND1 | c.433A>T (p.Thr145Ser) | |
| MT | m.3740C>A | CA414773416 | MT-ND1 | c.434C>A (p.Thr145Asn) | |
| MT | m.3740C= | CA2573328445 | MT-ND1 | c.434C= (p.Thr145=) | |
| MT | m.3740C>G | CA414773414 | MT-ND1 | c.434C>G (p.Thr145Ser) | |
| MT | m.3740C>T | CA414773415 | MT-ND1 | c.434C>T (p.Thr145Ile) | |
| MT | m.3741C>A | CA913170235 | MT-ND1 | c.435C>A (p.Thr145=) | |
| MT | m.3741C= | CA2499563580 | MT-ND1 | c.435C= (p.Thr145=) | |
| MT | m.3741C>G | CA913170236 | MT-ND1 | c.435C>G (p.Thr145=) | |
| MT | m.3741C>T | CA337096662 | MT-ND1 | c.435C>T (p.Thr145=) | dbSNP |
| MT | m.3742C>A | CA414773417 | MT-ND1 | c.436C>A (p.Leu146Ile) | |
| MT | m.3742C= | CA2573328451 | MT-ND1 | c.436C= (p.Leu146=) | |
| MT | m.3742C>G | CA414773418 | MT-ND1 | c.436C>G (p.Leu146Val) | |
| MT | m.3742C>T | CA913170237 | MT-ND1 | c.436C>T (p.Leu146=) | |
| MT | m.3743T>A | CA414773419 | MT-ND1 | c.437T>A (p.Leu146Gln) | |
| MT | m.3743T>C | CA414773420 | MT-ND1 | c.437T>C (p.Leu146Pro) | |
| MT | m.3743T>G | CA414773421 | MT-ND1 | c.437T>G (p.Leu146Arg) | |
| MT | m.3743T= | CA2573328455 | MT-ND1 | c.437T= (p.Leu146=) | |
| MT | m.3744A= | CA2499563581 | MT-ND1 | c.438A= (p.Leu146=) | |
| MT | m.3744A>C | CA913170242 | MT-ND1 | c.438A>C (p.Leu146=) | |
| MT | m.3744A>G | CA913170243 | MT-ND1 | c.438A>G (p.Leu146=) | dbSNP |
| MT | m.3744A>T | CA913170238 | MT-ND1 | c.438A>T (p.Leu146=) | |
| MT | m.3745G>A | CA414773422 | MT-ND1 | c.439G>A (p.Ala147Thr) | ClinVar dbSNP |
| MT | m.3745G>C | CA414773423 | MT-ND1 | c.439G>C (p.Ala147Pro) | |
| MT | m.3745G= | CA2499563582 | MT-ND1 | c.439G= (p.Ala147=) | |
| MT | m.3745G>T | CA414773424 | MT-ND1 | c.439G>T (p.Ala147Ser) | dbSNP |
| MT | m.3746C>A | CA414773426 | MT-ND1 | c.440C>A (p.Ala147Asp) | |
| MT | m.3746C= | CA2499563583 | MT-ND1 | c.440C= (p.Ala147=) | |
| MT | m.3746C>G | CA414773425 | MT-ND1 | c.440C>G (p.Ala147Gly) | |
| MT | m.3746C>T | CA337096664 | MT-ND1 | c.440C>T (p.Ala147Val) | ClinVar dbSNP |
| MT | m.3747C>A | CA913170249 | MT-ND1 | c.441C>A (p.Ala147=) | |
| MT | m.3747C= | CA2499563584 | MT-ND1 | c.441C= (p.Ala147=) | |
| MT | m.3747C>G | CA913170247 | MT-ND1 | c.441C>G (p.Ala147=) | |
| MT | m.3747C>T | CA913170248 | MT-ND1 | c.441C>T (p.Ala147=) | dbSNP |
| MT | m.3748A= | CA2573328470 | MT-ND1 | c.442A= (p.Ile148=) | |
| MT | m.3748A>C | CA414773427 | MT-ND1 | c.442A>C (p.Ile148Leu) | |
| MT | m.3748A>G | CA414773428 | MT-ND1 | c.442A>G (p.Ile148Val) | |
| MT | m.3748A>T | CA414773429 | MT-ND1 | c.442A>T (p.Ile148Phe) | |
| MT | m.3749T>A | CA414773430 | MT-ND1 | c.443T>A (p.Ile148Asn) | |
| MT | m.3749T>C | CA414773431 | MT-ND1 | c.443T>C (p.Ile148Thr) | ClinVar dbSNP |
| MT | m.3749T>G | CA414773432 | MT-ND1 | c.443T>G (p.Ile148Ser) | |
| MT | m.3749T= | CA2499563585 | MT-ND1 | c.443T= (p.Ile148=) | |
| MT | m.3750C>A | CA913170251 | MT-ND1 | c.444C>A (p.Ile148=) | |
| MT | m.3750C= | CA2499563586 | MT-ND1 | c.444C= (p.Ile148=) | |
| MT | m.3750C>G | CA414773433 | MT-ND1 | c.444C>G (p.Ile148Met) | |
| MT | m.3750C>T | CA337096666 | MT-ND1 | c.444C>T (p.Ile148=) | dbSNP |
| MT | m.3751A= | CA2499563587 | MT-ND1 | c.445A= (p.Ile149=) | |
| MT | m.3751A>C | CA414773434 | MT-ND1 | c.445A>C (p.Ile149Leu) | |
| MT | m.3751A>G | CA414773435 | MT-ND1 | c.445A>G (p.Ile149Val) | ClinVar dbSNP |
| MT | m.3751A>T | CA414773436 | MT-ND1 | c.445A>T (p.Ile149Phe) | |
| MT | m.3752T>A | CA414773439 | MT-ND1 | c.446T>A (p.Ile149Asn) | |
| MT | m.3752T>C | CA414773438 | MT-ND1 | c.446T>C (p.Ile149Thr) | |
| MT | m.3752T>G | CA414773437 | MT-ND1 | c.446T>G (p.Ile149Ser) | |
| MT | m.3752T= | CA2573328487 | MT-ND1 | c.446T= (p.Ile149=) | |
| MT | m.3753T>A | CA913170255 | MT-ND1 | c.447T>A (p.Ile149=) | |
| MT | m.3753T>C | CA337096668 | MT-ND1 | c.447T>C (p.Ile149=) | dbSNP |
| MT | m.3753T>G | CA414773440 | MT-ND1 | c.447T>G (p.Ile149Met) | |
| MT | m.3753T= | CA2499563588 | MT-ND1 | c.447T= (p.Ile149=) | |
| MT | m.3754C>A | CA414773441 | MT-ND1 | c.448C>A (p.Leu150Ile) | |
| MT | m.3754C= | CA2499563589 | MT-ND1 | c.448C= (p.Leu150=) | |
| MT | m.3754C>G | CA337096670 | MT-ND1 | c.448C>G (p.Leu150Val) | dbSNP |
| MT | m.3754C>T | CA337096672 | MT-ND1 | c.448C>T (p.Leu150=) | |
| MT | m.3755T>A | CA414773442 | MT-ND1 | c.449T>A (p.Leu150Gln) | |
| MT | m.3755T>C | CA414773443 | MT-ND1 | c.449T>C (p.Leu150Pro) | |
| MT | m.3755T>G | CA414773444 | MT-ND1 | c.449T>G (p.Leu150Arg) | |
| MT | m.3755T= | CA2573328494 | MT-ND1 | c.449T= (p.Leu150=) | |
| MT | m.3756A= | CA2499563590 | MT-ND1 | c.450A= (p.Leu150=) | |
| MT | m.3756A>C | CA913170259 | MT-ND1 | c.450A>C (p.Leu150=) | |
| MT | m.3756A>G | CA913170260 | MT-ND1 | c.450A>G (p.Leu150=) | dbSNP |
| MT | m.3756A>T | CA913170261 | MT-ND1 | c.450A>T (p.Leu150=) | |
| MT | m.3757C>A | CA414773445 | MT-ND1 | c.451C>A (p.Leu151Ile) | |
| MT | m.3757C= | CA2573328499 | MT-ND1 | c.451C= (p.Leu151=) | |
| MT | m.3757C>G | CA414773446 | MT-ND1 | c.451C>G (p.Leu151Val) | |
| MT | m.3757C>T | CA913170263 | MT-ND1 | c.451C>T (p.Leu151=) | |
| MT | m.3758T>A | CA414773447 | MT-ND1 | c.452T>A (p.Leu151Gln) | |
| MT | m.3758T>C | CA414773448 | MT-ND1 | c.452T>C (p.Leu151Pro) | |
| MT | m.3758T>G | CA414773449 | MT-ND1 | c.452T>G (p.Leu151Arg) | |
| MT | m.3758T= | CA2573328502 | MT-ND1 | c.452T= (p.Leu151=) | |
| MT | m.3759A= | CA2499563591 | MT-ND1 | c.453A= (p.Leu151=) | |
| MT | m.3759A>C | CA913170265 | MT-ND1 | c.453A>C (p.Leu151=) | |
| MT | m.3759A>G | CA913170266 | MT-ND1 | c.453A>G (p.Leu151=) | dbSNP |
| MT | m.3759A>T | CA913170267 | MT-ND1 | c.453A>T (p.Leu151=) | |
| MT | m.3760T>A | CA414773450 | MT-ND1 | c.454T>A (p.Ser152Thr) | |
| MT | m.3760T>C | CA414773452 | MT-ND1 | c.454T>C (p.Ser152Pro) | |
| MT | m.3760T>G | CA414773451 | MT-ND1 | c.454T>G (p.Ser152Ala) | dbSNP |
| MT | m.3760T= | CA2499563592 | MT-ND1 | c.454T= (p.Ser152=) | |
| MT | m.3761C>A | CA414773453 | MT-ND1 | c.455C>A (p.Ser152Ter) | ClinVar dbSNP |
| MT | m.3761C= | CA2499563593 | MT-ND1 | c.455C= (p.Ser152=) | |
| MT | m.3761C>G | CA414773454 | MT-ND1 | c.455C>G (p.Ser152Ter) | |
| MT | m.3761C>T | CA414773455 | MT-ND1 | c.455C>T (p.Ser152Leu) | |
| MT | m.3762A= | CA2573328512 | MT-ND1 | c.456A= (p.Ser152=) | |
| MT | m.3762A>C | CA913170271 | MT-ND1 | c.456A>C (p.Ser152=) | |
| MT | m.3762A>G | CA913170272 | MT-ND1 | c.456A>G (p.Ser152=) | dbSNP |
| MT | m.3762A>T | CA913170273 | MT-ND1 | c.456A>T (p.Ser152=) | |
| MT | m.3763A= | CA2499563594 | MT-ND1 | c.457A= (p.Thr153=) | |
| MT | m.3763A>C | CA414773456 | MT-ND1 | c.457A>C (p.Thr153Pro) | |
| MT | m.3763A>G | CA414773457 | MT-ND1 | c.457A>G (p.Thr153Ala) | dbSNP |
| MT | m.3763A>T | CA414773458 | MT-ND1 | c.457A>T (p.Thr153Ser) | |
| MT | m.3764C>A | CA414773459 | MT-ND1 | c.458C>A (p.Thr153Lys) | |
| MT | m.3764C= | CA2499563595 | MT-ND1 | c.458C= (p.Thr153=) | |
| MT | m.3764C>G | CA414773460 | MT-ND1 | c.458C>G (p.Thr153Arg) | |
| MT | m.3764C>T | CA414773461 | MT-ND1 | c.458C>T (p.Thr153Ile) | ClinVar dbSNP |
| MT | m.3765A= | CA2573328520 | MT-ND1 | c.459A= (p.Thr153=) | |
| MT | m.3765A>C | CA913170275 | MT-ND1 | c.459A>C (p.Thr153=) | |
| MT | m.3765A>G | CA645608453 | MT-ND1 | c.459A>G (p.Thr153=) | COSMIC COSMIC |
| MT | m.3765A>T | CA913170276 | MT-ND1 | c.459A>T (p.Thr153=) | |
| MT | m.3766T>A | CA414773462 | MT-ND1 | c.460T>A (p.Leu154Ile) | |
| MT | m.3766T>C | CA645608454 | MT-ND1 | c.460T>C (p.Leu154=) | dbSNP COSMIC COSMIC |
| MT | m.3766T>G | CA414773463 | MT-ND1 | c.460T>G (p.Leu154Val) | |
| MT | m.3766T= | CA2499563596 | MT-ND1 | c.460T= (p.Leu154=) | |
| MT | m.3767T>A | CA414773465 | MT-ND1 | c.461T>A (p.Leu154Ter) | |
| MT | m.3767T>C | CA414773466 | MT-ND1 | c.461T>C (p.Leu154Ser) | |
| MT | m.3767T>G | CA414773464 | MT-ND1 | c.461T>G (p.Leu154Ter) | |
| MT | m.3767T= | CA2573328527 | MT-ND1 | c.461T= (p.Leu154=) | |
| MT | m.3768A= | CA2499563597 | MT-ND1 | c.462A= (p.Leu154=) | |
| MT | m.3768A>C | CA414773468 | MT-ND1 | c.462A>C (p.Leu154Phe) | |
| MT | m.3768A>G | CA913170281 | MT-ND1 | c.462A>G (p.Leu154=) | dbSNP |
| MT | m.3768A>T | CA414773467 | MT-ND1 | c.462A>T (p.Leu154Phe) | |
| MT | m.3769C>A | CA414773469 | MT-ND1 | c.463C>A (p.Leu155Ile) | |
| MT | m.3769C= | CA2499563598 | MT-ND1 | c.463C= (p.Leu155=) | |
| MT | m.3769C>G | CA414773470 | MT-ND1 | c.463C>G (p.Leu155Val) | |
| MT | m.3769C>T | CA913170282 | MT-ND1 | c.463C>T (p.Leu155=) | dbSNP |
| MT | m.3770T>A | CA414773471 | MT-ND1 | c.464T>A (p.Leu155Gln) | |
| MT | m.3770T>C | CA414773472 | MT-ND1 | c.464T>C (p.Leu155Pro) | |
| MT | m.3770T>G | CA414773473 | MT-ND1 | c.464T>G (p.Leu155Arg) | |
| MT | m.3770T= | CA2573328529 | MT-ND1 | c.464T= (p.Leu155=) | |
| MT | m.3771A= | CA2499563599 | MT-ND1 | c.465A= (p.Leu155=) | |
| MT | m.3771A>C | CA913170287 | MT-ND1 | c.465A>C (p.Leu155=) | |
| MT | m.3771A>G | CA913170288 | MT-ND1 | c.465A>G (p.Leu155=) | dbSNP |
| MT | m.3771A>T | CA913170289 | MT-ND1 | c.465A>T (p.Leu155=) | |
| MT | m.3772A= | CA2499563600 | MT-ND1 | c.466A= (p.Ile156=) | |
| MT | m.3772A>C | CA414773474 | MT-ND1 | c.466A>C (p.Ile156Leu) | |
| MT | m.3772A>G | CA414773475 | MT-ND1 | c.466A>G (p.Ile156Val) | ClinVar dbSNP |
| MT | m.3772A>T | CA414773476 | MT-ND1 | c.466A>T (p.Ile156Leu) | |
| MT | m.3773T>A | CA414773477 | MT-ND1 | c.467T>A (p.Ile156Lys) | |
| MT | m.3773T>C | CA414773478 | MT-ND1 | c.467T>C (p.Ile156Thr) | |
| MT | m.3773T>G | CA414773479 | MT-ND1 | c.467T>G (p.Ile156Arg) | |
| MT | m.3773T= | CA2573328541 | MT-ND1 | c.467T= (p.Ile156=) | |
| MT | m.3774A= | CA2573328544 | MT-ND1 | c.468A= (p.Ile156=) | |
| MT | m.3774A>C | CA913170291 | MT-ND1 | c.468A>C (p.Ile156=) | |
| MT | m.3774A>G | CA414773480 | MT-ND1 | c.468A>G (p.Ile156Met) | |
| MT | m.3774A>T | CA913170290 | MT-ND1 | c.468A>T (p.Ile156=) | |
| MT | m.3775A= | CA2499563601 | MT-ND1 | c.469A= (p.Ser157=) | |
| MT | m.3775A>C | CA414773481 | MT-ND1 | c.469A>C (p.Ser157Arg) | |
| MT | m.3775A>G | CA414773483 | MT-ND1 | c.469A>G (p.Ser157Gly) | |
| MT | m.3775A>T | CA414773482 | MT-ND1 | c.469A>T (p.Ser157Cys) | ClinVar dbSNP |
| MT | m.3776G>A | CA414773484 | MT-ND1 | c.470G>A (p.Ser157Asn) | dbSNP |
| MT | m.3776G>C | CA414773485 | MT-ND1 | c.470G>C (p.Ser157Thr) | |
| MT | m.3776G= | CA2499563602 | MT-ND1 | c.470G= (p.Ser157=) | |
| MT | m.3776G>T | CA414773486 | MT-ND1 | c.470G>T (p.Ser157Ile) | |
| MT | m.3777T>A | CA337096674 | MT-ND1 | c.471T>A (p.Ser157Arg) | |
| MT | m.3777T>C | CA913170294 | MT-ND1 | c.471T>C (p.Ser157=) | dbSNP |
| MT | m.3777T>G | CA337096676 | MT-ND1 | c.471T>G (p.Ser157Arg) | |
| MT | m.3777T= | CA2499563603 | MT-ND1 | c.471T= (p.Ser157=) | |
| MT | m.3778G>A | CA414773487 | MT-ND1 | c.472G>A (p.Gly158Ser) | |
| MT | m.3778G>C | CA414773488 | MT-ND1 | c.472G>C (p.Gly158Arg) | |
| MT | m.3778G= | CA2573328555 | MT-ND1 | c.472G= (p.Gly158=) | |
| MT | m.3778G>T | CA414773489 | MT-ND1 | c.472G>T (p.Gly158Cys) | |
| MT | m.3779G>A | CA414773490 | MT-ND1 | c.473G>A (p.Gly158Asp) | |
| MT | m.3779G>C | CA414773491 | MT-ND1 | c.473G>C (p.Gly158Ala) | |
| MT | m.3779G= | CA2573328560 | MT-ND1 | c.473G= (p.Gly158=) | |
| MT | m.3779G>T | CA414773492 | MT-ND1 | c.473G>T (p.Gly158Val) | |
| MT | m.3780C>A | CA913170297 | MT-ND1 | c.474C>A (p.Gly158=) | |
| MT | m.3780C= | CA2499563604 | MT-ND1 | c.474C= (p.Gly158=) | |
| MT | m.3780C>G | CA913170298 | MT-ND1 | c.474C>G (p.Gly158=) | |
| MT | m.3780C>T | CA337096678 | MT-ND1 | c.474C>T (p.Gly158=) | dbSNP |
| MT | m.3781T>A | CA414773495 | MT-ND1 | c.475T>A (p.Ser159Thr) | |
| MT | m.3781T>C | CA414773493 | MT-ND1 | c.475T>C (p.Ser159Pro) | |
| MT | m.3781T>G | CA414773494 | MT-ND1 | c.475T>G (p.Ser159Ala) | |
| MT | m.3781T= | CA2573328564 | MT-ND1 | c.475T= (p.Ser159=) | |
| MT | m.3782C>A | CA414773496 | MT-ND1 | c.476C>A (p.Ser159Tyr) | |
| MT | m.3782C= | CA2573328592 | MT-ND1 | c.476C= (p.Ser159=) | |
| MT | m.3782C>G | CA414773497 | MT-ND1 | c.476C>G (p.Ser159Cys) | |
| MT | m.3782C>T | CA414773498 | MT-ND1 | c.476C>T (p.Ser159Phe) | |
| MT | m.3783C>A | CA913170302 | MT-ND1 | c.477C>A (p.Ser159=) | |
| MT | m.3783C= | CA2573328596 | MT-ND1 | c.477C= (p.Ser159=) | |
| MT | m.3783C>G | CA913170303 | MT-ND1 | c.477C>G (p.Ser159=) | |
| MT | m.3783C>T | CA913170301 | MT-ND1 | c.477C>T (p.Ser159=) | |
| MT | m.3784T>A | CA414773499 | MT-ND1 | c.478T>A (p.Phe160Ile) | |
| MT | m.3784T>C | CA414773500 | MT-ND1 | c.478T>C (p.Phe160Leu) | |
| MT | m.3784T>G | CA414773501 | MT-ND1 | c.478T>G (p.Phe160Val) | |
| MT | m.3784T= | CA2573328599 | MT-ND1 | c.478T= (p.Phe160=) | |
| MT | m.3785T>A | CA414773502 | MT-ND1 | c.479T>A (p.Phe160Tyr) | |
| MT | m.3785T>C | CA414773503 | MT-ND1 | c.479T>C (p.Phe160Ser) | |
| MT | m.3785T>G | CA414773504 | MT-ND1 | c.479T>G (p.Phe160Cys) | |
| MT | m.3785T= | CA2573328601 | MT-ND1 | c.479T= (p.Phe160=) | |
| MT | m.3786T>A | CA414773505 | MT-ND1 | c.480T>A (p.Phe160Leu) | |
| MT | m.3786T>C | CA913170308 | MT-ND1 | c.480T>C (p.Phe160=) | dbSNP |
| MT | m.3786T>G | CA414773506 | MT-ND1 | c.480T>G (p.Phe160Leu) | |
| MT | m.3786T= | CA2499563605 | MT-ND1 | c.480T= (p.Phe160=) | |
| MT | m.3787A= | CA2573328606 | MT-ND1 | c.481A= (p.Asn161=) | |
| MT | m.3787A>C | CA414773509 | MT-ND1 | c.481A>C (p.Asn161His) | |
| MT | m.3787A>G | CA414773507 | MT-ND1 | c.481A>G (p.Asn161Asp) | |
| MT | m.3787A>T | CA414773508 | MT-ND1 | c.481A>T (p.Asn161Tyr) | |
| MT | m.3788A= | CA2499563606 | MT-ND1 | c.482A= (p.Asn161=) | |
| MT | m.3788A>C | CA414773510 | MT-ND1 | c.482A>C (p.Asn161Thr) | |
| MT | m.3788A>G | CA414773511 | MT-ND1 | c.482A>G (p.Asn161Ser) | dbSNP |
| MT | m.3788A>T | CA414773512 | MT-ND1 | c.482A>T (p.Asn161Ile) | |
| MT | m.3789C>A | CA414773513 | MT-ND1 | c.483C>A (p.Asn161Lys) | |
| MT | m.3789C= | CA2499563607 | MT-ND1 | c.483C= (p.Asn161=) | |
| MT | m.3789C>G | CA414773514 | MT-ND1 | c.483C>G (p.Asn161Lys) | |
| MT | m.3789C>T | CA913170312 | MT-ND1 | c.483C>T (p.Asn161=) | dbSNP |
| MT | m.3790C>A | CA414773515 | MT-ND1 | c.484C>A (p.Leu162Ile) | |
| MT | m.3790C= | CA2573328614 | MT-ND1 | c.484C= (p.Leu162=) | |
| MT | m.3790C>G | CA414773516 | MT-ND1 | c.484C>G (p.Leu162Val) | |
| MT | m.3790C>T | CA414773517 | MT-ND1 | c.484C>T (p.Leu162Phe) | |
| MT | m.3791T>A | CA414773518 | MT-ND1 | c.485T>A (p.Leu162His) | |
| MT | m.3791T>C | CA414773519 | MT-ND1 | c.485T>C (p.Leu162Pro) | |
| MT | m.3791T>G | CA414773520 | MT-ND1 | c.485T>G (p.Leu162Arg) | |
| MT | m.3791T= | CA2573328617 | MT-ND1 | c.485T= (p.Leu162=) | |
| MT | m.3792C>A | CA913170320 | MT-ND1 | c.486C>A (p.Leu162=) | |
| MT | m.3792C= | CA2573328620 | MT-ND1 | c.486C= (p.Leu162=) | |
| MT | m.3792C>G | CA913170317 | MT-ND1 | c.486C>G (p.Leu162=) | |
| MT | m.3792C>T | CA913170319 | MT-ND1 | c.486C>T (p.Leu162=) | |
| MT | m.3793T>A | CA414773523 | MT-ND1 | c.487T>A (p.Ser163Thr) | |
| MT | m.3793T>C | CA414773521 | MT-ND1 | c.487T>C (p.Ser163Pro) | ClinVar dbSNP |
| MT | m.3793T>G | CA414773522 | MT-ND1 | c.487T>G (p.Ser163Ala) | |
| MT | m.3793T= | CA2499563608 | MT-ND1 | c.487T= (p.Ser163=) | |
| MT | m.3794C>A | CA414773524 | MT-ND1 | c.488C>A (p.Ser163Tyr) | |
| MT | m.3794C= | CA2573328628 | MT-ND1 | c.488C= (p.Ser163=) | |
| MT | m.3794C>G | CA414773525 | MT-ND1 | c.488C>G (p.Ser163Cys) | |
| MT | m.3794C>T | CA414773526 | MT-ND1 | c.488C>T (p.Ser163Phe) | |
| MT | m.3795C>A | CA913170323 | MT-ND1 | c.489C>A (p.Ser163=) | |
| MT | m.3795C= | CA2499563609 | MT-ND1 | c.489C= (p.Ser163=) | |
| MT | m.3795C>G | CA913170321 | MT-ND1 | c.489C>G (p.Ser163=) | |
| MT | m.3795C>T | CA913170322 | MT-ND1 | c.489C>T (p.Ser163=) | dbSNP |
| MT | m.3796A= | CA2499563610 | MT-ND1 | c.490A= (p.Thr164=) | |
| MT | m.3796A>C | CA414773527 | MT-ND1 | c.490A>C (p.Thr164Pro) | |
| MT | m.3796A>G | CA340947 | MT-ND1 | c.490A>G (p.Thr164Ala) | ClinVar dbSNP |
| MT | m.3796A>T | CA10581388 | MT-ND1 | c.490A>T (p.Thr164Ser) | ClinVar dbSNP |
| MT | m.3797C>A | CA414773528 | MT-ND1 | c.491C>A (p.Thr164Asn) | |
| MT | m.3797C= | CA2573328638 | MT-ND1 | c.491C= (p.Thr164=) | |
| MT | m.3797C>G | CA414773529 | MT-ND1 | c.491C>G (p.Thr164Ser) | |
| MT | m.3797C>T | CA414773530 | MT-ND1 | c.491C>T (p.Thr164Ile) | |
| MT | m.3798C>A | CA913170324 | MT-ND1 | c.492C>A (p.Thr164=) | |
| MT | m.3798C= | CA2499563611 | MT-ND1 | c.492C= (p.Thr164=) | |
| MT | m.3798C>G | CA913170325 | MT-ND1 | c.492C>G (p.Thr164=) | |
| MT | m.3798C>T | CA913170326 | MT-ND1 | c.492C>T (p.Thr164=) | dbSNP |
| MT | m.3799C>A | CA414773531 | MT-ND1 | c.493C>A (p.Leu165Ile) | |
| MT | m.3799C= | CA2573328643 | MT-ND1 | c.493C= (p.Leu165=) | |
| MT | m.3799C>G | CA414773532 | MT-ND1 | c.493C>G (p.Leu165Val) | |
| MT | m.3799C>T | CA414773533 | MT-ND1 | c.493C>T (p.Leu165Phe) | |
| MT | m.3800T>A | CA414773536 | MT-ND1 | c.494T>A (p.Leu165His) | |
| MT | m.3800T>C | CA414773535 | MT-ND1 | c.494T>C (p.Leu165Pro) | |
| MT | m.3800T>G | CA414773534 | MT-ND1 | c.494T>G (p.Leu165Arg) | |
| MT | m.3800T= | CA2573328645 | MT-ND1 | c.494T= (p.Leu165=) | |
| MT | m.3801T>A | CA913170330 | MT-ND1 | c.495T>A (p.Leu165=) | |
| MT | m.3801T>C | CA913170331 | MT-ND1 | c.495T>C (p.Leu165=) | dbSNP |
| MT | m.3801T>G | CA913170332 | MT-ND1 | c.495T>G (p.Leu165=) | |
| MT | m.3801T= | CA2499563612 | MT-ND1 | c.495T= (p.Leu165=) | |
| MT | m.3802A= | CA2573328648 | MT-ND1 | c.496A= (p.Ile166=) | |
| MT | m.3802A>C | CA414773537 | MT-ND1 | c.496A>C (p.Ile166Leu) | |
| MT | m.3802A>G | CA414773538 | MT-ND1 | c.496A>G (p.Ile166Val) | |
| MT | m.3802A>T | CA414773539 | MT-ND1 | c.496A>T (p.Ile166Phe) | |
| MT | m.3803T>A | CA414773540 | MT-ND1 | c.497T>A (p.Ile166Asn) | |
| MT | m.3803T>C | CA414773541 | MT-ND1 | c.497T>C (p.Ile166Thr) | dbSNP |
| MT | m.3803T>G | CA414773542 | MT-ND1 | c.497T>G (p.Ile166Ser) | |
| MT | m.3803T= | CA2499563613 | MT-ND1 | c.497T= (p.Ile166=) | |
| MT | m.3804C>A | CA913170335 | MT-ND1 | c.498C>A (p.Ile166=) | |
| MT | m.3804C= | CA2499563614 | MT-ND1 | c.498C= (p.Ile166=) | |
| MT | m.3804C>G | CA414773543 | MT-ND1 | c.498C>G (p.Ile166Met) | |
| MT | m.3804C>T | CA913170336 | MT-ND1 | c.498C>T (p.Ile166=) | dbSNP |
| MT | m.3805A= | CA2573328654 | MT-ND1 | c.499A= (p.Thr167=) | |
| MT | m.3805A>C | CA414773544 | MT-ND1 | c.499A>C (p.Thr167Pro) | |
| MT | m.3805A>G | CA414773545 | MT-ND1 | c.499A>G (p.Thr167Ala) | |
| MT | m.3805A>T | CA414773546 | MT-ND1 | c.499A>T (p.Thr167Ser) | |
| MT | m.3806C>A | CA414773547 | MT-ND1 | c.500C>A (p.Thr167Lys) | |
| MT | m.3806C= | CA2573328659 | MT-ND1 | c.500C= (p.Thr167=) | |
| MT | m.3806C>G | CA414773548 | MT-ND1 | c.500C>G (p.Thr167Arg) | |
| MT | m.3806C>T | CA414773549 | MT-ND1 | c.500C>T (p.Thr167Ile) | |
| MT | m.3807A= | CA2499563615 | MT-ND1 | c.501A= (p.Thr167=) | |
| MT | m.3807A>C | CA913170338 | MT-ND1 | c.501A>C (p.Thr167=) | |
| MT | m.3807A>G | CA913170337 | MT-ND1 | c.501A>G (p.Thr167=) | dbSNP |
| MT | m.3807A>T | CA913170339 | MT-ND1 | c.501A>T (p.Thr167=) | |
| MT | m.3808A= | CA2499563616 | MT-ND1 | c.502A= (p.Thr168=) | |
| MT | m.3808A>C | CA414773551 | MT-ND1 | c.502A>C (p.Thr168Pro) | |
| MT | m.3808A>G | CA337096682 | MT-ND1 | c.502A>G (p.Thr168Ala) | ClinVar dbSNP |
| MT | m.3808A>T | CA414773550 | MT-ND1 | c.502A>T (p.Thr168Ser) | |
| MT | m.3809C>A | CA414773552 | MT-ND1 | c.503C>A (p.Thr168Lys) | |
| MT | m.3809C= | CA2573328665 | MT-ND1 | c.503C= (p.Thr168=) | |
| MT | m.3809C>G | CA414773553 | MT-ND1 | c.503C>G (p.Thr168Arg) | |
| MT | m.3809C>T | CA414773554 | MT-ND1 | c.503C>T (p.Thr168Ile) | |
| MT | m.3810A= | CA2573328669 | MT-ND1 | c.504A= (p.Thr168=) | |
| MT | m.3810A>C | CA913170344 | MT-ND1 | c.504A>C (p.Thr168=) | |
| MT | m.3810A>G | CA913170343 | MT-ND1 | c.504A>G (p.Thr168=) | |
| MT | m.3810A>T | CA913170345 | MT-ND1 | c.504A>T (p.Thr168=) | |
| MT | m.3811C>A | CA414773555 | MT-ND1 | c.505C>A (p.Gln169Lys) | |
| MT | m.3811C= | CA2573328671 | MT-ND1 | c.505C= (p.Gln169=) | |
| MT | m.3811C>G | CA414773556 | MT-ND1 | c.505C>G (p.Gln169Glu) | |
| MT | m.3811C>T | CA414773557 | MT-ND1 | c.505C>T (p.Gln169Ter) | |
| MT | m.3812A= | CA2573328672 | MT-ND1 | c.506A= (p.Gln169=) | |
| MT | m.3812A>C | CA414773558 | MT-ND1 | c.506A>C (p.Gln169Pro) | |
| MT | m.3812A>G | CA414773559 | MT-ND1 | c.506A>G (p.Gln169Arg) | |
| MT | m.3812A>T | CA414773560 | MT-ND1 | c.506A>T (p.Gln169Leu) | |
| MT | m.3813A= | CA2573328675 | MT-ND1 | c.507A= (p.Gln169=) | |
| MT | m.3813A>C | CA414773562 | MT-ND1 | c.507A>C (p.Gln169His) | |
| MT | m.3813A>G | CA913170350 | MT-ND1 | c.507A>G (p.Gln169=) | |
| MT | m.3813A>T | CA414773563 | MT-ND1 | c.507A>T (p.Gln169His) | |
| MT | m.3814G>A | CA414773566 | MT-ND1 | c.508G>A (p.Glu170Lys) | COSMIC COSMIC |
| MT | m.3814G>C | CA414773565 | MT-ND1 | c.508G>C (p.Glu170Gln) | |
| MT | m.3814G= | CA2573328678 | MT-ND1 | c.508G= (p.Glu170=) | |
| MT | m.3814G>T | CA414773564 | MT-ND1 | c.508G>T (p.Glu170Ter) | |
| MT | m.3815A= | CA2573328680 | MT-ND1 | c.509A= (p.Glu170=) | |
| MT | m.3815A>C | CA414773567 | MT-ND1 | c.509A>C (p.Glu170Ala) | |
| MT | m.3815A>G | CA414773568 | MT-ND1 | c.509A>G (p.Glu170Gly) | |
| MT | m.3815A>T | CA414773569 | MT-ND1 | c.509A>T (p.Glu170Val) | |
| MT | m.3816A= | CA2499563617 | MT-ND1 | c.510A= (p.Glu170=) | |
| MT | m.3816A>C | CA337096688 | MT-ND1 | c.510A>C (p.Glu170Asp) | |
| MT | m.3816A>G | CA337096684 | MT-ND1 | c.510A>G (p.Glu170=) | dbSNP |
| MT | m.3816A>T | CA337096686 | MT-ND1 | c.510A>T (p.Glu170Asp) | |
| MT | m.3817C>A | CA414773570 | MT-ND1 | c.511C>A (p.His171Asn) | |
| MT | m.3817C= | CA2573328685 | MT-ND1 | c.511C= (p.His171=) | |
| MT | m.3817C>G | CA414773571 | MT-ND1 | c.511C>G (p.His171Asp) | |
| MT | m.3817C>T | CA414773572 | MT-ND1 | c.511C>T (p.His171Tyr) | |
| MT | m.3818A= | CA2573328687 | MT-ND1 | c.512A= (p.His171=) | |
| MT | m.3818A>C | CA414773573 | MT-ND1 | c.512A>C (p.His171Pro) | |
| MT | m.3818A>G | CA414773574 | MT-ND1 | c.512A>G (p.His171Arg) | |
| MT | m.3818A>T | CA414773575 | MT-ND1 | c.512A>T (p.His171Leu) | |
| MT | m.3819C>A | CA414773576 | MT-ND1 | c.513C>A (p.His171Gln) | |
| MT | m.3819C= | CA2499563618 | MT-ND1 | c.513C= (p.His171=) | |
| MT | m.3819C>G | CA414773577 | MT-ND1 | c.513C>G (p.His171Gln) | |
| MT | m.3819C>T | CA337096690 | MT-ND1 | c.513C>T (p.His171=) | dbSNP |
| MT | m.3820C>A | CA414773578 | MT-ND1 | c.514C>A (p.Leu172Ile) | |
| MT | m.3820C= | CA2573328690 | MT-ND1 | c.514C= (p.Leu172=) | |
| MT | m.3820C>G | CA414773579 | MT-ND1 | c.514C>G (p.Leu172Val) | |
| MT | m.3820C>T | CA414773580 | MT-ND1 | c.514C>T (p.Leu172Phe) | |
| MT | m.3821T>A | CA414773581 | MT-ND1 | c.515T>A (p.Leu172His) | |
| MT | m.3821T>C | CA414773582 | MT-ND1 | c.515T>C (p.Leu172Pro) | |
| MT | m.3821T>G | CA414773583 | MT-ND1 | c.515T>G (p.Leu172Arg) | |
| MT | m.3821T= | CA2573328693 | MT-ND1 | c.515T= (p.Leu172=) | |
| MT | m.3822C>A | CA913175532 | MT-ND1 | c.516C>A (p.Leu172=) | |
| MT | m.3822C= | CA2573328696 | MT-ND1 | c.516C= (p.Leu172=) | |
| MT | m.3822C>G | CA913175534 | MT-ND1 | c.516C>G (p.Leu172=) | |
| MT | m.3822C>T | CA913175533 | MT-ND1 | c.516C>T (p.Leu172=) | |
| MT | m.3823T>A | CA414773584 | MT-ND1 | c.517T>A (p.Ter173Arg) | |
| MT | m.3823T>C | CA414773585 | MT-ND1 | c.517T>C (p.Ter173Arg) | |
| MT | m.3823T>G | CA414773586 | MT-ND1 | c.517T>G (p.Ter173Gly) | |
| MT | m.3823T= | CA414773587 | MT-ND1 | c.517T= (p.Ter173=) | |
| MT | m.3824G>A | CA414773591 | MT-ND1 | c.518G>A (p.Ter173=) | |
| MT | m.3824G>C | CA414773590 | MT-ND1 | c.518G>C (p.Ter173Ser) | |
| MT | m.3824G= | CA414773589 | MT-ND1 | c.518G= (p.Ter173=) | |
| MT | m.3824G>T | CA414773588 | MT-ND1 | c.518G>T (p.Ter173Leu) | |
| MT | m.3825A= | CA414773592 | MT-ND1 | c.519A= (p.Ter173=) | |
| MT | m.3825A>C | CA414773593 | MT-ND1 | c.519A>C (p.Ter173Cys) | |
| MT | m.3825A>G | CA414773594 | MT-ND1 | c.519A>G (p.Ter173Trp) | |
| MT | m.3825A>T | CA414773595 | MT-ND1 | c.519A>T (p.Ter173Cys) | |
| MT | m.3826T>A | CA414773596 | MT-ND1 | c.520T>A (p.Leu174Ile) | |
| MT | m.3826T>C | CA337096692 | MT-ND1 | c.520T>C (p.Leu174=) | dbSNP |
| MT | m.3826T>G | CA414773597 | MT-ND1 | c.520T>G (p.Leu174Val) | |
| MT | m.3826T= | CA2499563619 | MT-ND1 | c.520T= (p.Leu174=) | |
| MT | m.3827T>A | CA414773598 | MT-ND1 | c.521T>A (p.Leu174Ter) | |
| MT | m.3827T>C | CA337096694 | MT-ND1 | c.521T>C (p.Leu174Ser) | dbSNP |
| MT | m.3827T>G | CA414773599 | MT-ND1 | c.521T>G (p.Leu174Ter) | |
| MT | m.3827T= | CA2499563620 | MT-ND1 | c.521T= (p.Leu174=) | |
| MT | m.3828A= | CA2573328706 | MT-ND1 | c.522A= (p.Leu174=) | |
| MT | m.3828A>C | CA414773600 | MT-ND1 | c.522A>C (p.Leu174Phe) | |
| MT | m.3828A>G | CA913175561 | MT-ND1 | c.522A>G (p.Leu174=) | dbSNP |
| MT | m.3828A>T | CA414773601 | MT-ND1 | c.522A>T (p.Leu174Phe) | |
| MT | m.3829C>A | CA414773604 | MT-ND1 | c.523C>A (p.Leu175Ile) | |
| MT | m.3829C= | CA2573328708 | MT-ND1 | c.523C= (p.Leu175=) | |
| MT | m.3829C>G | CA414773602 | MT-ND1 | c.523C>G (p.Leu175Val) | |
| MT | m.3829C>T | CA414773603 | MT-ND1 | c.523C>T (p.Leu175Phe) | |
| MT | m.3830T>A | CA414773605 | MT-ND1 | c.524T>A (p.Leu175His) | |
| MT | m.3830T>C | CA414773606 | MT-ND1 | c.524T>C (p.Leu175Pro) | |
| MT | m.3830T>G | CA414773607 | MT-ND1 | c.524T>G (p.Leu175Arg) | |
| MT | m.3830T= | CA2573328710 | MT-ND1 | c.524T= (p.Leu175=) |