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.3313A= | CA2499563364 | MT-ND1 | c.7A= (p.Met3=) | |
| MT | m.3313A>C | CA414772517 | MT-ND1 | c.7A>C (p.Met3Leu) | |
| MT | m.3313A>G | CA414772518 | MT-ND1 | c.7A>G (p.Met3Val) | ClinVar dbSNP |
| MT | m.3313A>T | CA414772519 | MT-ND1 | c.7A>T (p.Met3Leu) | |
| MT | m.3314T>A | CA414772520 | MT-ND1 | c.8T>A (p.Met3Lys) | |
| MT | m.3314T>C | CA414772521 | MT-ND1 | c.8T>C (p.Met3Thr) | dbSNP |
| MT | m.3314T>G | CA414772522 | MT-ND1 | c.8T>G (p.Met3Arg) | |
| MT | m.3314T= | CA2499563365 | MT-ND1 | c.8T= (p.Met3=) | |
| MT | m.3315G>A | CA414772523 | MT-ND1 | c.9G>A (p.Met3Ile) | dbSNP |
| MT | m.3315G>C | CA414772524 | MT-ND1 | c.9G>C (p.Met3Ile) | |
| MT | m.3315G= | CA2499563366 | MT-ND1 | c.9G= (p.Met3=) | |
| MT | m.3315G>T | CA414772525 | MT-ND1 | c.9G>T (p.Met3Ile) | |
| MT | m.3316G>A | CA337096493 | MT-ND1 | c.10G>A (p.Ala4Thr) | ClinVar dbSNP |
| MT | m.3316G>C | CA414772526 | MT-ND1 | c.10G>C (p.Ala4Pro) | ClinVar dbSNP |
| MT | m.3316G= | CA2499563367 | MT-ND1 | c.10G= (p.Ala4=) | |
| MT | m.3316G>T | CA414772527 | MT-ND1 | c.10G>T (p.Ala4Ser) | |
| MT | m.3317C>A | CA414772528 | MT-ND1 | c.11C>A (p.Ala4Asp) | |
| MT | m.3317C= | CA2573327187 | MT-ND1 | c.11C= (p.Ala4=) | |
| MT | m.3317C>G | CA414772530 | MT-ND1 | c.11C>G (p.Ala4Gly) | |
| MT | m.3317C>T | CA414772529 | MT-ND1 | c.11C>T (p.Ala4Val) | |
| MT | m.3318C>A | CA913169195 | MT-ND1 | c.12C>A (p.Ala4=) | |
| MT | m.3318C= | CA2573327190 | MT-ND1 | c.12C= (p.Ala4=) | |
| MT | m.3318C>G | CA913169197 | MT-ND1 | c.12C>G (p.Ala4=) | |
| MT | m.3318C>T | CA913169196 | MT-ND1 | c.12C>T (p.Ala4=) | dbSNP |
| MT | m.3319A= | CA2573327193 | MT-ND1 | c.13A= (p.Asn5=) | |
| MT | m.3319A>C | CA414772531 | MT-ND1 | c.13A>C (p.Asn5His) | |
| MT | m.3319A>G | CA414772532 | MT-ND1 | c.13A>G (p.Asn5Asp) | |
| MT | m.3319A>T | CA414772533 | MT-ND1 | c.13A>T (p.Asn5Tyr) | |
| MT | m.3320A= | CA2499563368 | MT-ND1 | c.14A= (p.Asn5=) | |
| MT | m.3320A>C | CA414772534 | MT-ND1 | c.14A>C (p.Asn5Thr) | |
| MT | m.3320A>G | CA414772535 | MT-ND1 | c.14A>G (p.Asn5Ser) | ClinVar dbSNP |
| MT | m.3320A>T | CA414772536 | MT-ND1 | c.14A>T (p.Asn5Ile) | |
| MT | m.3321C>A | CA414772537 | MT-ND1 | c.15C>A (p.Asn5Lys) | |
| MT | m.3321C= | CA2573327199 | MT-ND1 | c.15C= (p.Asn5=) | |
| MT | m.3321C>G | CA414772538 | MT-ND1 | c.15C>G (p.Asn5Lys) | |
| MT | m.3321C>T | CA913169201 | MT-ND1 | c.15C>T (p.Asn5=) | |
| MT | m.3322C>A | CA414772539 | MT-ND1 | c.16C>A (p.Leu6Ile) | |
| MT | m.3322C= | CA2573327202 | MT-ND1 | c.16C= (p.Leu6=) | |
| MT | m.3322C>G | CA414772540 | MT-ND1 | c.16C>G (p.Leu6Val) | |
| MT | m.3322C>T | CA414772541 | MT-ND1 | c.16C>T (p.Leu6Phe) | |
| MT | m.3323T>A | CA414772544 | MT-ND1 | c.17T>A (p.Leu6His) | dbSNP |
| MT | m.3323T>C | CA414772543 | MT-ND1 | c.17T>C (p.Leu6Pro) | |
| MT | m.3323T>G | CA414772542 | MT-ND1 | c.17T>G (p.Leu6Arg) | |
| MT | m.3323T= | CA2573327206 | MT-ND1 | c.17T= (p.Leu6=) | |
| MT | m.3324C>A | CA913169202 | MT-ND1 | c.18C>A (p.Leu6=) | |
| MT | m.3324C= | CA2499563369 | MT-ND1 | c.18C= (p.Leu6=) | |
| MT | m.3324C>G | CA913169203 | MT-ND1 | c.18C>G (p.Leu6=) | |
| MT | m.3324C>T | CA913169204 | MT-ND1 | c.18C>T (p.Leu6=) | dbSNP |
| MT | m.3325C>A | CA414772545 | MT-ND1 | c.19C>A (p.Leu7Ile) | |
| MT | m.3325C= | CA2499563370 | MT-ND1 | c.19C= (p.Leu7=) | |
| MT | m.3325C>G | CA414772546 | MT-ND1 | c.19C>G (p.Leu7Val) | |
| MT | m.3325C>T | CA913169205 | MT-ND1 | c.19C>T (p.Leu7=) | dbSNP |
| MT | m.3326T>A | CA414772547 | MT-ND1 | c.20T>A (p.Leu7Gln) | |
| MT | m.3326T>C | CA414772548 | MT-ND1 | c.20T>C (p.Leu7Pro) | |
| MT | m.3326T>G | CA414772549 | MT-ND1 | c.20T>G (p.Leu7Arg) | |
| MT | m.3326T= | CA2573327213 | MT-ND1 | c.20T= (p.Leu7=) | |
| MT | m.3327A= | CA2499563371 | MT-ND1 | c.21A= (p.Leu7=) | |
| MT | m.3327A>C | CA913169207 | MT-ND1 | c.21A>C (p.Leu7=) | |
| MT | m.3327A>G | CA913169208 | MT-ND1 | c.21A>G (p.Leu7=) | dbSNP |
| MT | m.3327A>T | CA913169211 | MT-ND1 | c.21A>T (p.Leu7=) | |
| MT | m.3328C>A | CA414772550 | MT-ND1 | c.22C>A (p.Leu8Ile) | |
| MT | m.3328C= | CA2499563372 | MT-ND1 | c.22C= (p.Leu8=) | |
| MT | m.3328C>G | CA414772551 | MT-ND1 | c.22C>G (p.Leu8Val) | |
| MT | m.3328C>T | CA414772552 | MT-ND1 | c.22C>T (p.Leu8Phe) | ClinVar dbSNP |
| MT | m.3329T>A | CA414772553 | MT-ND1 | c.23T>A (p.Leu8His) | |
| MT | m.3329T>C | CA414772554 | MT-ND1 | c.23T>C (p.Leu8Pro) | |
| MT | m.3329T>G | CA414772555 | MT-ND1 | c.23T>G (p.Leu8Arg) | |
| MT | m.3329T= | CA2573327220 | MT-ND1 | c.23T= (p.Leu8=) | |
| MT | m.3330C>A | CA913169215 | MT-ND1 | c.24C>A (p.Leu8=) | |
| MT | m.3330C= | CA2499563373 | MT-ND1 | c.24C= (p.Leu8=) | |
| MT | m.3330C>G | CA913169213 | MT-ND1 | c.24C>G (p.Leu8=) | |
| MT | m.3330C>T | CA913169214 | MT-ND1 | c.24C>T (p.Leu8=) | dbSNP |
| MT | m.3331C>A | CA414772556 | MT-ND1 | c.25C>A (p.Leu9Ile) | |
| MT | m.3331C= | CA2499563374 | MT-ND1 | c.25C= (p.Leu9=) | |
| MT | m.3331C>G | CA414772557 | MT-ND1 | c.25C>G (p.Leu9Val) | |
| MT | m.3331C>T | CA337096495 | MT-ND1 | c.25C>T (p.Leu9Phe) | dbSNP |
| MT | m.3332T>A | CA414772558 | MT-ND1 | c.26T>A (p.Leu9His) | |
| MT | m.3332T>C | CA414772559 | MT-ND1 | c.26T>C (p.Leu9Pro) | |
| MT | m.3332T>G | CA414772560 | MT-ND1 | c.26T>G (p.Leu9Arg) | |
| MT | m.3332T= | CA2513276427 | MT-ND1 | c.26T= (p.Leu9=) | |
| MT | m.3333C>A | CA913169219 | MT-ND1 | c.27C>A (p.Leu9=) | |
| MT | m.3333C= | CA2499563375 | MT-ND1 | c.27C= (p.Leu9=) | |
| MT | m.3333C>G | CA913169216 | MT-ND1 | c.27C>G (p.Leu9=) | |
| MT | m.3333C>T | CA913169217 | MT-ND1 | c.27C>T (p.Leu9=) | dbSNP |
| MT | m.3334A= | CA2573327230 | MT-ND1 | c.28A= (p.Ile10=) | |
| MT | m.3334A>C | CA414772561 | MT-ND1 | c.28A>C (p.Ile10Leu) | |
| MT | m.3334A>G | CA414772562 | MT-ND1 | c.28A>G (p.Ile10Val) | dbSNP |
| MT | m.3334A>T | CA414772563 | MT-ND1 | c.28A>T (p.Ile10Phe) | |
| MT | m.3335T>A | CA414772565 | MT-ND1 | c.29T>A (p.Ile10Asn) | |
| MT | m.3335T>C | CA337096497 | MT-ND1 | c.29T>C (p.Ile10Thr) | ClinVar dbSNP |
| MT | m.3335T>G | CA414772564 | MT-ND1 | c.29T>G (p.Ile10Ser) | |
| MT | m.3335T= | CA2499563376 | MT-ND1 | c.29T= (p.Ile10=) | |
| MT | m.3336T>A | CA913169223 | MT-ND1 | c.30T>A (p.Ile10=) | |
| MT | m.3336T>C | CA337096501 | MT-ND1 | c.30T>C (p.Ile10=) | dbSNP |
| MT | m.3336T>G | CA337096499 | MT-ND1 | c.30T>G (p.Ile10Met) | dbSNP |
| MT | m.3336T= | CA2499563377 | MT-ND1 | c.30T= (p.Ile10=) | |
| MT | m.3337G>A | CA414772566 | MT-ND1 | c.31G>A (p.Val11Ile) | ClinVar dbSNP |
| MT | m.3337G>C | CA414772567 | MT-ND1 | c.31G>C (p.Val11Leu) | dbSNP |
| MT | m.3337G= | CA2499563378 | MT-ND1 | c.31G= (p.Val11=) | |
| MT | m.3337G>T | CA414772568 | MT-ND1 | c.31G>T (p.Val11Leu) | |
| MT | m.3338T>A | CA414772569 | MT-ND1 | c.32T>A (p.Val11Glu) | |
| MT | m.3338T>C | CA337096503 | MT-ND1 | c.32T>C (p.Val11Ala) | ClinVar dbSNP |
| MT | m.3338T>G | CA414772570 | MT-ND1 | c.32T>G (p.Val11Gly) | |
| MT | m.3338T= | CA2499563379 | MT-ND1 | c.32T= (p.Val11=) | |
| MT | m.3339A= | CA2573327245 | MT-ND1 | c.33A= (p.Val11=) | |
| MT | m.3339A>C | CA913169227 | MT-ND1 | c.33A>C (p.Val11=) | |
| MT | m.3339A>G | CA913169230 | MT-ND1 | c.33A>G (p.Val11=) | |
| MT | m.3339A>T | CA913169226 | MT-ND1 | c.33A>T (p.Val11=) | |
| MT | m.3340C>A | CA414772571 | MT-ND1 | c.34C>A (p.Pro12Thr) | |
| MT | m.3340C= | CA2499563380 | MT-ND1 | c.34C= (p.Pro12=) | |
| MT | m.3340C>G | CA414772572 | MT-ND1 | c.34C>G (p.Pro12Ala) | |
| MT | m.3340C>T | CA414772573 | MT-ND1 | c.34C>T (p.Pro12Ser) | ClinVar dbSNP |
| MT | m.3341C>A | CA414772574 | MT-ND1 | c.35C>A (p.Pro12His) | |
| MT | m.3341C= | CA2573327251 | MT-ND1 | c.35C= (p.Pro12=) | |
| MT | m.3341C>G | CA414772575 | MT-ND1 | c.35C>G (p.Pro12Arg) | |
| MT | m.3341C>T | CA414772576 | MT-ND1 | c.35C>T (p.Pro12Leu) | |
| MT | m.3342C>A | CA913169233 | MT-ND1 | c.36C>A (p.Pro12=) | |
| MT | m.3342C= | CA2499563381 | MT-ND1 | c.36C= (p.Pro12=) | |
| MT | m.3342C>G | CA913169232 | MT-ND1 | c.36C>G (p.Pro12=) | |
| MT | m.3342C>T | CA337096505 | MT-ND1 | c.36C>T (p.Pro12=) | dbSNP |
| MT | m.3343A= | CA2499563382 | MT-ND1 | c.37A= (p.Ile13=) | |
| MT | m.3343A>C | CA414772577 | MT-ND1 | c.37A>C (p.Ile13Leu) | |
| MT | m.3343A>G | CA414772578 | MT-ND1 | c.37A>G (p.Ile13Val) | dbSNP |
| MT | m.3343A>T | CA414772579 | MT-ND1 | c.37A>T (p.Ile13Phe) | |
| MT | m.3344T>A | CA414772580 | MT-ND1 | c.38T>A (p.Ile13Asn) | |
| MT | m.3344T>C | CA414772582 | MT-ND1 | c.38T>C (p.Ile13Thr) | ClinVar dbSNP |
| MT | m.3344T>G | CA414772581 | MT-ND1 | c.38T>G (p.Ile13Ser) | |
| MT | m.3344T= | CA2499563383 | MT-ND1 | c.38T= (p.Ile13=) | |
| MT | m.3345T>A | CA913169237 | MT-ND1 | c.39T>A (p.Ile13=) | |
| MT | m.3345T>C | CA913169239 | MT-ND1 | c.39T>C (p.Ile13=) | dbSNP |
| MT | m.3345T>G | CA414772583 | MT-ND1 | c.39T>G (p.Ile13Met) | |
| MT | m.3345T= | CA2499563384 | MT-ND1 | c.39T= (p.Ile13=) | |
| MT | m.3346C>A | CA414772584 | MT-ND1 | c.40C>A (p.Leu14Ile) | |
| MT | m.3346C= | CA2499563385 | MT-ND1 | c.40C= (p.Leu14=) | |
| MT | m.3346C>G | CA414772585 | MT-ND1 | c.40C>G (p.Leu14Val) | |
| MT | m.3346C>T | CA913169240 | MT-ND1 | c.40C>T (p.Leu14=) | dbSNP |
| MT | m.3347T>A | CA414772586 | MT-ND1 | c.41T>A (p.Leu14Gln) | |
| MT | m.3347T>C | CA414772587 | MT-ND1 | c.41T>C (p.Leu14Pro) | |
| MT | m.3347T>G | CA414772588 | MT-ND1 | c.41T>G (p.Leu14Arg) | |
| MT | m.3347T= | CA2573327264 | MT-ND1 | c.41T= (p.Leu14=) | |
| MT | m.3348A= | CA2499563386 | MT-ND1 | c.42A= (p.Leu14=) | |
| MT | m.3348A>C | CA337096507 | MT-ND1 | c.42A>C (p.Leu14=) | |
| MT | m.3348A>G | CA337096509 | MT-ND1 | c.42A>G (p.Leu14=) | dbSNP |
| MT | m.3348A>T | CA337096511 | MT-ND1 | c.42A>T (p.Leu14=) | |
| MT | m.3349A= | CA2499563387 | MT-ND1 | c.43A= (p.Ile15=) | |
| MT | m.3349A>C | CA414772589 | MT-ND1 | c.43A>C (p.Ile15Leu) | |
| MT | m.3349A>G | CA337096513 | MT-ND1 | c.43A>G (p.Ile15Val) | ClinVar dbSNP |
| MT | m.3349A>T | CA414772590 | MT-ND1 | c.43A>T (p.Ile15Phe) | |
| MT | m.3350T>A | CA414772591 | MT-ND1 | c.44T>A (p.Ile15Asn) | |
| MT | m.3350T>C | CA414772593 | MT-ND1 | c.44T>C (p.Ile15Thr) | ClinVar dbSNP |
| MT | m.3350T>G | CA414772592 | MT-ND1 | c.44T>G (p.Ile15Ser) | |
| MT | m.3350T= | CA2499563388 | MT-ND1 | c.44T= (p.Ile15=) | |
| MT | m.3351C>A | CA913169245 | MT-ND1 | c.45C>A (p.Ile15=) | dbSNP |
| MT | m.3351C= | CA2499563389 | MT-ND1 | c.45C= (p.Ile15=) | |
| MT | m.3351C>G | CA414772594 | MT-ND1 | c.45C>G (p.Ile15Met) | |
| MT | m.3351C>T | CA913169248 | MT-ND1 | c.45C>T (p.Ile15=) | dbSNP |
| MT | m.3352G>A | CA414772595 | MT-ND1 | c.46G>A (p.Ala16Thr) | dbSNP |
| MT | m.3352G>C | CA414772596 | MT-ND1 | c.46G>C (p.Ala16Pro) | |
| MT | m.3352G= | CA2499563390 | MT-ND1 | c.46G= (p.Ala16=) | |
| MT | m.3352G>T | CA414772597 | MT-ND1 | c.46G>T (p.Ala16Ser) | |
| MT | m.3353C>A | CA414772598 | MT-ND1 | c.47C>A (p.Ala16Glu) | |
| MT | m.3353C= | CA2573327282 | MT-ND1 | c.47C= (p.Ala16=) | |
| MT | m.3353C>G | CA414772599 | MT-ND1 | c.47C>G (p.Ala16Gly) | |
| MT | m.3353C>T | CA414772600 | MT-ND1 | c.47C>T (p.Ala16Val) | |
| MT | m.3354A= | CA2573327286 | MT-ND1 | c.48A= (p.Ala16=) | |
| MT | m.3354A>C | CA913169255 | MT-ND1 | c.48A>C (p.Ala16=) | |
| MT | m.3354A>G | CA913169253 | MT-ND1 | c.48A>G (p.Ala16=) | |
| MT | m.3354A>T | CA913169254 | MT-ND1 | c.48A>T (p.Ala16=) | |
| MT | m.3355A= | CA2499563391 | MT-ND1 | c.49A= (p.Met17=) | |
| MT | m.3355A>C | CA414772601 | MT-ND1 | c.49A>C (p.Met17Leu) | |
| MT | m.3355A>G | CA414772602 | MT-ND1 | c.49A>G (p.Met17Val) | dbSNP |
| MT | m.3355A>T | CA414772603 | MT-ND1 | c.49A>T (p.Met17Leu) | |
| MT | m.3356T>A | CA414772605 | MT-ND1 | c.50T>A (p.Met17Lys) | |
| MT | m.3356T>C | CA414772606 | MT-ND1 | c.50T>C (p.Met17Thr) | |
| MT | m.3356T>G | CA414772604 | MT-ND1 | c.50T>G (p.Met17Arg) | |
| MT | m.3356T= | CA2573327292 | MT-ND1 | c.50T= (p.Met17=) | |
| MT | m.3357G>A | CA414772607 | MT-ND1 | c.51G>A (p.Met17Ile) | dbSNP |
| MT | m.3357G>C | CA414772609 | MT-ND1 | c.51G>C (p.Met17Ile) | ClinVar dbSNP |
| MT | m.3357G= | CA2499563392 | MT-ND1 | c.51G= (p.Met17=) | |
| MT | m.3357G>T | CA414772608 | MT-ND1 | c.51G>T (p.Met17Ile) | |
| MT | m.3358G>A | CA414772610 | MT-ND1 | c.52G>A (p.Ala18Thr) | ClinVar dbSNP |
| MT | m.3358G>C | CA414772612 | MT-ND1 | c.52G>C (p.Ala18Pro) | |
| MT | m.3358G= | CA2499563393 | MT-ND1 | c.52G= (p.Ala18=) | |
| MT | m.3358G>T | CA414772611 | MT-ND1 | c.52G>T (p.Ala18Ser) | |
| MT | m.3359C>A | CA414772613 | MT-ND1 | c.53C>A (p.Ala18Glu) | |
| MT | m.3359C= | CA2573327304 | MT-ND1 | c.53C= (p.Ala18=) | |
| MT | m.3359C>G | CA414772614 | MT-ND1 | c.53C>G (p.Ala18Gly) | |
| MT | m.3359C>T | CA414772615 | MT-ND1 | c.53C>T (p.Ala18Val) | |
| MT | m.3360A= | CA2499563394 | MT-ND1 | c.54A= (p.Ala18=) | |
| MT | m.3360A>C | CA913169257 | MT-ND1 | c.54A>C (p.Ala18=) | |
| MT | m.3360A>G | CA337096515 | MT-ND1 | c.54A>G (p.Ala18=) | dbSNP |
| MT | m.3360A>T | CA913169258 | MT-ND1 | c.54A>T (p.Ala18=) | |
| MT | m.3361T>A | CA414772616 | MT-ND1 | c.55T>A (p.Phe19Ile) | |
| MT | m.3361T>C | CA414772617 | MT-ND1 | c.55T>C (p.Phe19Leu) | |
| MT | m.3361T>G | CA414772618 | MT-ND1 | c.55T>G (p.Phe19Val) | |
| MT | m.3361T= | CA2573327312 | MT-ND1 | c.55T= (p.Phe19=) | |
| MT | m.3362T>A | CA414772619 | MT-ND1 | c.56T>A (p.Phe19Tyr) | |
| MT | m.3362T>C | CA414772620 | MT-ND1 | c.56T>C (p.Phe19Ser) | |
| MT | m.3362T>G | CA414772621 | MT-ND1 | c.56T>G (p.Phe19Cys) | |
| MT | m.3362T= | CA2573327315 | MT-ND1 | c.56T= (p.Phe19=) | |
| MT | m.3363C>A | CA414772622 | MT-ND1 | c.57C>A (p.Phe19Leu) | |
| MT | m.3363C= | CA2573327316 | MT-ND1 | c.57C= (p.Phe19=) | |
| MT | m.3363C>G | CA414772623 | MT-ND1 | c.57C>G (p.Phe19Leu) | |
| MT | m.3363C>T | CA913169261 | MT-ND1 | c.57C>T (p.Phe19=) | |
| MT | m.3364C>A | CA414772625 | MT-ND1 | c.58C>A (p.Leu20Ile) | |
| MT | m.3364C= | CA2499563395 | MT-ND1 | c.58C= (p.Leu20=) | |
| MT | m.3364C>G | CA414772624 | MT-ND1 | c.58C>G (p.Leu20Val) | dbSNP |
| MT | m.3364C>T | CA913169262 | MT-ND1 | c.58C>T (p.Leu20=) | |
| MT | m.3365T>A | CA414772626 | MT-ND1 | c.59T>A (p.Leu20Gln) | |
| MT | m.3365T>C | CA414772627 | MT-ND1 | c.59T>C (p.Leu20Pro) | |
| MT | m.3365T>G | CA414772628 | MT-ND1 | c.59T>G (p.Leu20Arg) | |
| MT | m.3365T= | CA2573327322 | MT-ND1 | c.59T= (p.Leu20=) | |
| MT | m.3366A= | CA2573327327 | MT-ND1 | c.60A= (p.Leu20=) | |
| MT | m.3366A>C | CA913169263 | MT-ND1 | c.60A>C (p.Leu20=) | |
| MT | m.3366A>G | CA913169264 | MT-ND1 | c.60A>G (p.Leu20=) | |
| MT | m.3366A>T | CA913169265 | MT-ND1 | c.60A>T (p.Leu20=) | |
| MT | m.3367A= | CA2573327331 | MT-ND1 | c.61A= (p.Met21=) | |
| MT | m.3367A>C | CA414772629 | MT-ND1 | c.61A>C (p.Met21Leu) | |
| MT | m.3367A>G | CA414772630 | MT-ND1 | c.61A>G (p.Met21Val) | |
| MT | m.3367A>T | CA414772631 | MT-ND1 | c.61A>T (p.Met21Leu) | |
| MT | m.3368T>A | CA414772632 | MT-ND1 | c.62T>A (p.Met21Lys) | |
| MT | m.3368T>C | CA414772633 | MT-ND1 | c.62T>C (p.Met21Thr) | ClinVar dbSNP |
| MT | m.3368T>G | CA414772634 | MT-ND1 | c.62T>G (p.Met21Arg) | |
| MT | m.3368T= | CA2499563396 | MT-ND1 | c.62T= (p.Met21=) | |
| MT | m.3369G>A | CA414772635 | MT-ND1 | c.63G>A (p.Met21Ile) | dbSNP |
| MT | m.3369G>C | CA414772636 | MT-ND1 | c.63G>C (p.Met21Ile) | |
| MT | m.3369G= | CA2499563397 | MT-ND1 | c.63G= (p.Met21=) | |
| MT | m.3369G>T | CA414772637 | MT-ND1 | c.63G>T (p.Met21Ile) | |
| MT | m.3370C>A | CA414772638 | MT-ND1 | c.64C>A (p.Leu22Ile) | |
| MT | m.3370C= | CA2573327342 | MT-ND1 | c.64C= (p.Leu22=) | |
| MT | m.3370C>G | CA414772640 | MT-ND1 | c.64C>G (p.Leu22Val) | |
| MT | m.3370C>T | CA414772639 | MT-ND1 | c.64C>T (p.Leu22Phe) | |
| MT | m.3371T>A | CA414772641 | MT-ND1 | c.65T>A (p.Leu22His) | |
| MT | m.3371T>C | CA414772642 | MT-ND1 | c.65T>C (p.Leu22Pro) | |
| MT | m.3371T>G | CA414772643 | MT-ND1 | c.65T>G (p.Leu22Arg) | |
| MT | m.3371T= | CA2573327346 | MT-ND1 | c.65T= (p.Leu22=) | |
| MT | m.3372T>A | CA913169274 | MT-ND1 | c.66T>A (p.Leu22=) | |
| MT | m.3372T>C | CA913169273 | MT-ND1 | c.66T>C (p.Leu22=) | dbSNP |
| MT | m.3372T>G | CA913169272 | MT-ND1 | c.66T>G (p.Leu22=) | |
| MT | m.3372T= | CA2499563398 | MT-ND1 | c.66T= (p.Leu22=) | |
| MT | m.3373A= | CA2573327349 | MT-ND1 | c.67A= (p.Thr23=) | |
| MT | m.3373A>C | CA414772644 | MT-ND1 | c.67A>C (p.Thr23Pro) | |
| MT | m.3373A>G | CA414772645 | MT-ND1 | c.67A>G (p.Thr23Ala) | |
| MT | m.3373A>T | CA414772646 | MT-ND1 | c.67A>T (p.Thr23Ser) | |
| MT | m.3374C>A | CA414772647 | MT-ND1 | c.68C>A (p.Thr23Asn) | |
| MT | m.3374C= | CA2573327350 | MT-ND1 | c.68C= (p.Thr23=) | |
| MT | m.3374C>G | CA414772648 | MT-ND1 | c.68C>G (p.Thr23Ser) | |
| MT | m.3374C>T | CA414772649 | MT-ND1 | c.68C>T (p.Thr23Ile) | |
| MT | m.3375C>A | CA913169279 | MT-ND1 | c.69C>A (p.Thr23=) | |
| MT | m.3375C= | CA2499563399 | MT-ND1 | c.69C= (p.Thr23=) | |
| MT | m.3375C>G | CA913169275 | MT-ND1 | c.69C>G (p.Thr23=) | |
| MT | m.3375C>T | CA913169280 | MT-ND1 | c.69C>T (p.Thr23=) | dbSNP |
| MT | m.3376G>A | CA345259 | MT-ND1 | c.70G>A (p.Glu24Lys) | ClinVar dbSNP |
| MT | m.3376G>C | CA414772651 | MT-ND1 | c.70G>C (p.Glu24Gln) | |
| MT | m.3376G= | CA2499563400 | MT-ND1 | c.70G= (p.Glu24=) | |
| MT | m.3376G>T | CA414772650 | MT-ND1 | c.70G>T (p.Glu24Ter) | |
| MT | m.3377A= | CA2573327365 | MT-ND1 | c.71A= (p.Glu24=) | |
| MT | m.3377A>C | CA414772652 | MT-ND1 | c.71A>C (p.Glu24Ala) | |
| MT | m.3377A>G | CA414772653 | MT-ND1 | c.71A>G (p.Glu24Gly) | |
| MT | m.3377A>T | CA414772654 | MT-ND1 | c.71A>T (p.Glu24Val) | |
| MT | m.3378A= | CA2499563401 | MT-ND1 | c.72A= (p.Glu24=) | |
| MT | m.3378A>C | CA414772655 | MT-ND1 | c.72A>C (p.Glu24Asp) | |
| MT | m.3378A>G | CA913169282 | MT-ND1 | c.72A>G (p.Glu24=) | dbSNP |
| MT | m.3378A>T | CA414772656 | MT-ND1 | c.72A>T (p.Glu24Asp) | |
| MT | m.3379C>A | CA913169283 | MT-ND1 | c.73C>A (p.Arg25=) | |
| MT | m.3379C= | CA2573327367 | MT-ND1 | c.73C= (p.Arg25=) | |
| MT | m.3379C>G | CA414772657 | MT-ND1 | c.73C>G (p.Arg25Gly) | |
| MT | m.3379C>T | CA414772658 | MT-ND1 | c.73C>T (p.Arg25Ter) | |
| MT | m.3380G>A | CA414772659 | MT-ND1 | c.74G>A (p.Arg25Gln) | ClinVar dbSNP COSMIC COSMIC |
| MT | m.3380G>C | CA414772660 | MT-ND1 | c.74G>C (p.Arg25Pro) | |
| MT | m.3380G= | CA2499563402 | MT-ND1 | c.74G= (p.Arg25=) | |
| MT | m.3380G>T | CA414772661 | MT-ND1 | c.74G>T (p.Arg25Leu) | |
| MT | m.3381A= | CA2499563403 | MT-ND1 | c.75A= (p.Arg25=) | |
| MT | m.3381A>C | CA913169284 | MT-ND1 | c.75A>C (p.Arg25=) | |
| MT | m.3381A>G | CA913169285 | MT-ND1 | c.75A>G (p.Arg25=) | dbSNP |
| MT | m.3381A>T | CA913169286 | MT-ND1 | c.75A>T (p.Arg25=) | |
| MT | m.3382A= | CA2573327376 | MT-ND1 | c.76A= (p.Lys26=) | |
| MT | m.3382A>C | CA414772664 | MT-ND1 | c.76A>C (p.Lys26Gln) | |
| MT | m.3382A>G | CA414772663 | MT-ND1 | c.76A>G (p.Lys26Glu) | |
| MT | m.3382A>T | CA414772662 | MT-ND1 | c.76A>T (p.Lys26Ter) | |
| MT | m.3383A= | CA2573327378 | MT-ND1 | c.77A= (p.Lys26=) | |
| MT | m.3383A>C | CA414772665 | MT-ND1 | c.77A>C (p.Lys26Thr) | |
| MT | m.3383A>G | CA414772666 | MT-ND1 | c.77A>G (p.Lys26Arg) | |
| MT | m.3383A>T | CA414772667 | MT-ND1 | c.77A>T (p.Lys26Ile) | |
| MT | m.3383_3384insT | CA2573104436 | MT-ND1 | c.77_78insT (p.Lys26AsnfsTer26) | |
| MT | m.3384A= | CA2499563404 | MT-ND1 | c.78A= (p.Lys26=) | |
| MT | m.3384A>C | CA414772668 | MT-ND1 | c.78A>C (p.Lys26Asn) | |
| MT | m.3384A>G | CA337096518 | MT-ND1 | c.78A>G (p.Lys26=) | dbSNP |
| MT | m.3384A>T | CA414772669 | MT-ND1 | c.78A>T (p.Lys26Asn) | |
| MT | m.3385A= | CA2499563405 | MT-ND1 | c.79A= (p.Ile27=) | |
| MT | m.3385A>C | CA414772670 | MT-ND1 | c.79A>C (p.Ile27Leu) | |
| MT | m.3385A>G | CA337096520 | MT-ND1 | c.79A>G (p.Ile27Val) | ClinVar dbSNP |
| MT | m.3385A>T | CA414772671 | MT-ND1 | c.79A>T (p.Ile27Phe) | |
| MT | m.3386T>A | CA414772672 | MT-ND1 | c.80T>A (p.Ile27Asn) | |
| MT | m.3386T>C | CA414772673 | MT-ND1 | c.80T>C (p.Ile27Thr) | |
| MT | m.3386T>G | CA414772674 | MT-ND1 | c.80T>G (p.Ile27Ser) | |
| MT | m.3386T= | CA2573327386 | MT-ND1 | c.80T= (p.Ile27=) | |
| MT | m.3387T>A | CA913169290 | MT-ND1 | c.81T>A (p.Ile27=) | |
| MT | m.3387T>C | CA913169289 | MT-ND1 | c.81T>C (p.Ile27=) | dbSNP |
| MT | m.3387T>G | CA414772675 | MT-ND1 | c.81T>G (p.Ile27Met) | dbSNP |
| MT | m.3387T= | CA2499563406 | MT-ND1 | c.81T= (p.Ile27=) | |
| MT | m.3388C>A | CA259736 | MT-ND1 | c.82C>A (p.Leu28Ile) | ClinVar dbSNP |
| MT | m.3388C= | CA2499563407 | MT-ND1 | c.82C= (p.Leu28=) | |
| MT | m.3388C>G | CA414772676 | MT-ND1 | c.82C>G (p.Leu28Val) | |
| MT | m.3388C>T | CA913169292 | MT-ND1 | c.82C>T (p.Leu28=) | dbSNP |
| MT | m.3389T>A | CA414772677 | MT-ND1 | c.83T>A (p.Leu28Gln) | |
| MT | m.3389T>C | CA414772678 | MT-ND1 | c.83T>C (p.Leu28Pro) | |
| MT | m.3389T>G | CA414772679 | MT-ND1 | c.83T>G (p.Leu28Arg) | |
| MT | m.3389T= | CA2573327394 | MT-ND1 | c.83T= (p.Leu28=) | |
| MT | m.3390A= | CA2499563408 | MT-ND1 | c.84A= (p.Leu28=) | |
| MT | m.3390A>C | CA913169293 | MT-ND1 | c.84A>C (p.Leu28=) | |
| MT | m.3390A>G | CA913169294 | MT-ND1 | c.84A>G (p.Leu28=) | dbSNP |
| MT | m.3390A>T | CA913169295 | MT-ND1 | c.84A>T (p.Leu28=) | |
| MT | m.3391G>A | CA414772680 | MT-ND1 | c.85G>A (p.Gly29Ser) | ClinVar dbSNP |
| MT | m.3391G>C | CA414772681 | MT-ND1 | c.85G>C (p.Gly29Arg) | |
| MT | m.3391G= | CA2499563409 | MT-ND1 | c.85G= (p.Gly29=) | |
| MT | m.3391G>T | CA414772682 | MT-ND1 | c.85G>T (p.Gly29Cys) | |
| MT | m.3392G>A | CA414772683 | MT-ND1 | c.86G>A (p.Gly29Asp) | |
| MT | m.3392G>C | CA414772684 | MT-ND1 | c.86G>C (p.Gly29Ala) | dbSNP |
| MT | m.3392G= | CA2499563410 | MT-ND1 | c.86G= (p.Gly29=) | |
| MT | m.3392G>T | CA414772685 | MT-ND1 | c.86G>T (p.Gly29Val) | |
| MT | m.3393C>A | CA913169298 | MT-ND1 | c.87C>A (p.Gly29=) | |
| MT | m.3393C= | CA2499563411 | MT-ND1 | c.87C= (p.Gly29=) | |
| MT | m.3393C>G | CA913169297 | MT-ND1 | c.87C>G (p.Gly29=) | |
| MT | m.3393C>T | CA913169299 | MT-ND1 | c.87C>T (p.Gly29=) | dbSNP |
| MT | m.3394T>A | CA414772686 | MT-ND1 | c.88T>A (p.Tyr30Asn) | |
| MT | m.3394T>C | CA340944 | MT-ND1 | c.88T>C (p.Tyr30His) | ClinVar dbSNP |
| MT | m.3394T>G | CA414772687 | MT-ND1 | c.88T>G (p.Tyr30Asp) | |
| MT | m.3394T= | CA2499563412 | MT-ND1 | c.88T= (p.Tyr30=) | |
| MT | m.3398_3399del | CA2740098094 | MT-ND1 | c.92_93del (p.Ile31ThrfsTer20) | |
| MT | m.3395A= | CA2499563413 | MT-ND1 | c.89A= (p.Tyr30=) | |
| MT | m.3395A>C | CA414772688 | MT-ND1 | c.89A>C (p.Tyr30Ser) | ClinVar dbSNP |
| MT | m.3395A>G | CA414772690 | MT-ND1 | c.89A>G (p.Tyr30Cys) | ClinVar dbSNP |
| MT | m.3395A>T | CA414772689 | MT-ND1 | c.89A>T (p.Tyr30Phe) | |
| MT | m.3396T>A | CA414772691 | MT-ND1 | c.90T>A (p.Tyr30Ter) | |
| MT | m.3396T>C | CA10581299 | MT-ND1 | c.90T>C (p.Tyr30=) | ClinVar dbSNP COSMIC COSMIC |
| MT | m.3396T>G | CA414772692 | MT-ND1 | c.90T>G (p.Tyr30Ter) | |
| MT | m.3396T= | CA2499563414 | MT-ND1 | c.90T= (p.Tyr30=) | |
| MT | m.3397A= | CA2499563415 | MT-ND1 | c.91A= (p.Ile31=) | |
| MT | m.3397A>C | CA414772693 | MT-ND1 | c.91A>C (p.Ile31Leu) | |
| MT | m.3397A>G | CA254859 | MT-ND1 | c.91A>G (p.Ile31Val) | ClinVar dbSNP |
| MT | m.3397A>T | CA414772694 | MT-ND1 | c.91A>T (p.Ile31Leu) | |
| MT | m.3398T>A | CA414772695 | MT-ND1 | c.92T>A (p.Ile31Lys) | |
| MT | m.3398T>C | CA337096526 | MT-ND1 | c.92T>C (p.Ile31Thr) | ClinVar dbSNP |
| MT | m.3398T>G | CA414772696 | MT-ND1 | c.92T>G (p.Ile31Arg) | |
| MT | m.3398T= | CA2499563416 | MT-ND1 | c.92T= (p.Ile31=) | |
| MT | m.3399A= | CA2499563417 | MT-ND1 | c.93A= (p.Ile31=) | |
| MT | m.3399A>C | CA913169300 | MT-ND1 | c.93A>C (p.Ile31=) | dbSNP |
| MT | m.3399A>G | CA414772697 | MT-ND1 | c.93A>G (p.Ile31Met) | dbSNP |
| MT | m.3399A>T | CA337096528 | MT-ND1 | c.93A>T (p.Ile31=) | ClinVar dbSNP |
| MT | m.3400C>A | CA414772700 | MT-ND1 | c.94C>A (p.Gln32Lys) | |
| MT | m.3400C= | CA2573327423 | MT-ND1 | c.94C= (p.Gln32=) | |
| MT | m.3400C>G | CA414772698 | MT-ND1 | c.94C>G (p.Gln32Glu) | |
| MT | m.3400C>T | CA414772699 | MT-ND1 | c.94C>T (p.Gln32Ter) | |
| MT | m.3401A= | CA2573327426 | MT-ND1 | c.95A= (p.Gln32=) | |
| MT | m.3401A>C | CA414772701 | MT-ND1 | c.95A>C (p.Gln32Pro) | |
| MT | m.3401A>G | CA414772702 | MT-ND1 | c.95A>G (p.Gln32Arg) | |
| MT | m.3401A>T | CA414772703 | MT-ND1 | c.95A>T (p.Gln32Leu) | |
| MT | m.3402A= | CA2573327431 | MT-ND1 | c.96A= (p.Gln32=) | |
| MT | m.3402A>C | CA414772704 | MT-ND1 | c.96A>C (p.Gln32His) | |
| MT | m.3402A>G | CA913169304 | MT-ND1 | c.96A>G (p.Gln32=) | |
| MT | m.3402A>T | CA414772705 | MT-ND1 | c.96A>T (p.Gln32His) | |
| MT | m.3403C>A | CA414772706 | MT-ND1 | c.97C>A (p.Leu33Ile) | |
| MT | m.3403C= | CA2573327436 | MT-ND1 | c.97C= (p.Leu33=) | |
| MT | m.3403C>G | CA414772707 | MT-ND1 | c.97C>G (p.Leu33Val) | |
| MT | m.3403C>T | CA913169306 | MT-ND1 | c.97C>T (p.Leu33=) | |
| MT | m.3404T>A | CA414772708 | MT-ND1 | c.98T>A (p.Leu33Gln) | |
| MT | m.3404T>C | CA414772709 | MT-ND1 | c.98T>C (p.Leu33Pro) | |
| MT | m.3404T>G | CA414772710 | MT-ND1 | c.98T>G (p.Leu33Arg) | |
| MT | m.3404T= | CA2573327440 | MT-ND1 | c.98T= (p.Leu33=) | |
| MT | m.3405A= | CA2573327443 | MT-ND1 | c.99A= (p.Leu33=) | |
| MT | m.3405A>C | CA913169312 | MT-ND1 | c.99A>C (p.Leu33=) | |
| MT | m.3405A>G | CA913169309 | MT-ND1 | c.99A>G (p.Leu33=) | |
| MT | m.3405A>T | CA913169310 | MT-ND1 | c.99A>T (p.Leu33=) | |
| MT | m.3406C>A | CA414772712 | MT-ND1 | c.100C>A (p.Arg34Ser) | |
| MT | m.3406C= | CA2573327448 | MT-ND1 | c.100C= (p.Arg34=) | |
| MT | m.3406C>G | CA414772713 | MT-ND1 | c.100C>G (p.Arg34Gly) | |
| MT | m.3406C>T | CA414772711 | MT-ND1 | c.100C>T (p.Arg34Cys) | |
| MT | m.3407G>A | CA414772717 | MT-ND1 | c.101G>A (p.Arg34His) | dbSNP |
| MT | m.3407G>C | CA414772715 | MT-ND1 | c.101G>C (p.Arg34Pro) | |
| MT | m.3407G= | CA2499563418 | MT-ND1 | c.101G= (p.Arg34=) | |
| MT | m.3407G>T | CA414772718 | MT-ND1 | c.101G>T (p.Arg34Leu) | |
| MT | m.3408C>A | CA913169317 | MT-ND1 | c.102C>A (p.Arg34=) | |
| MT | m.3408C= | CA2499563419 | MT-ND1 | c.102C= (p.Arg34=) | |
| MT | m.3408C>G | CA913169314 | MT-ND1 | c.102C>G (p.Arg34=) | |
| MT | m.3408C>T | CA913169315 | MT-ND1 | c.102C>T (p.Arg34=) | dbSNP |
| MT | m.3409A= | CA2573327456 | MT-ND1 | c.103A= (p.Lys35=) | |
| MT | m.3409A>C | CA414772719 | MT-ND1 | c.103A>C (p.Lys35Gln) | |
| MT | m.3409A>G | CA414772720 | MT-ND1 | c.103A>G (p.Lys35Glu) | |
| MT | m.3409A>T | CA414772721 | MT-ND1 | c.103A>T (p.Lys35Ter) | |
| MT | m.3411del | CA2573104437 | MT-ND1 | c.105del (p.Gly36AlafsTer5) | |
| MT | m.3410A= | CA2573327460 | MT-ND1 | c.104A= (p.Lys35=) | |
| MT | m.3410A>C | CA414772722 | MT-ND1 | c.104A>C (p.Lys35Thr) | |
| MT | m.3410A>G | CA414772723 | MT-ND1 | c.104A>G (p.Lys35Arg) | |
| MT | m.3410A>T | CA414772724 | MT-ND1 | c.104A>T (p.Lys35Ile) | |
| MT | m.3411A= | CA2499563420 | MT-ND1 | c.105A= (p.Lys35=) | |
| MT | m.3411A>C | CA414772725 | MT-ND1 | c.105A>C (p.Lys35Asn) | |
| MT | m.3411A>G | CA913169320 | MT-ND1 | c.105A>G (p.Lys35=) | dbSNP |
| MT | m.3411A>T | CA414772726 | MT-ND1 | c.105A>T (p.Lys35Asn) | |
| MT | m.3412G>A | CA414772727 | MT-ND1 | c.106G>A (p.Gly36Ser) | |
| MT | m.3412G>C | CA414772728 | MT-ND1 | c.106G>C (p.Gly36Arg) | |
| MT | m.3412G= | CA2573327464 | MT-ND1 | c.106G= (p.Gly36=) | |
| MT | m.3412G>T | CA414772729 | MT-ND1 | c.106G>T (p.Gly36Cys) | |
| MT | m.3413G>A | CA414772730 | MT-ND1 | c.107G>A (p.Gly36Asp) | dbSNP |
| MT | m.3413G>C | CA414772732 | MT-ND1 | c.107G>C (p.Gly36Ala) | |
| MT | m.3413G= | CA2499563421 | MT-ND1 | c.107G= (p.Gly36=) | |
| MT | m.3413G>T | CA414772731 | MT-ND1 | c.107G>T (p.Gly36Val) |