OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| MT | m.4677C>A | CA414775276 | MT-ND2 | c.208C>A (p.Leu70Ile) | |
| MT | m.4677C= | CA2499563964 | MT-ND2 | c.208C= (p.Leu70=) | |
| MT | m.4677C>G | CA414775277 | MT-ND2 | c.208C>G (p.Leu70Val) | |
| MT | m.4677C>T | CA414775279 | MT-ND2 | c.208C>T (p.Leu70Phe) | dbSNP |
| MT | m.4678T>A | CA414775281 | MT-ND2 | c.209T>A (p.Leu70His) | |
| MT | m.4678T>C | CA414775285 | MT-ND2 | c.209T>C (p.Leu70Pro) | |
| MT | m.4678T>G | CA414775283 | MT-ND2 | c.209T>G (p.Leu70Arg) | |
| MT | m.4678T= | CA2573330155 | MT-ND2 | c.209T= (p.Leu70=) | |
| MT | m.4679T>A | CA913178563 | MT-ND2 | c.210T>A (p.Leu70=) | |
| MT | m.4679T>C | CA913178564 | MT-ND2 | c.210T>C (p.Leu70=) | dbSNP |
| MT | m.4679T>G | CA913178565 | MT-ND2 | c.210T>G (p.Leu70=) | |
| MT | m.4679T= | CA2499563965 | MT-ND2 | c.210T= (p.Leu70=) | |
| MT | m.4680C>A | CA414775286 | MT-ND2 | c.211C>A (p.Leu71Ile) | ClinVar dbSNP |
| MT | m.4680C= | CA2499563966 | MT-ND2 | c.211C= (p.Leu71=) | |
| MT | m.4680C>G | CA414775288 | MT-ND2 | c.211C>G (p.Leu71Val) | |
| MT | m.4680C>T | CA913178566 | MT-ND2 | c.211C>T (p.Leu71=) | |
| MT | m.4681T>A | CA414775290 | MT-ND2 | c.212T>A (p.Leu71Gln) | |
| MT | m.4681T>C | CA120644 | MT-ND2 | c.212T>C (p.Leu71Pro) | ClinVar dbSNP |
| MT | m.4681T>G | CA414775293 | MT-ND2 | c.212T>G (p.Leu71Arg) | |
| MT | m.4681T= | CA2499563967 | MT-ND2 | c.212T= (p.Leu71=) | |
| MT | m.4682A= | CA2573330160 | MT-ND2 | c.213A= (p.Leu71=) | |
| MT | m.4682A>C | CA913178567 | MT-ND2 | c.213A>C (p.Leu71=) | |
| MT | m.4682A>G | CA913178568 | MT-ND2 | c.213A>G (p.Leu71=) | |
| MT | m.4682A>T | CA913178570 | MT-ND2 | c.213A>T (p.Leu71=) | |
| MT | m.4683A= | CA2573330161 | MT-ND2 | c.214A= (p.Ile72=) | |
| MT | m.4683A>C | CA414775297 | MT-ND2 | c.214A>C (p.Ile72Leu) | |
| MT | m.4683A>G | CA414775298 | MT-ND2 | c.214A>G (p.Ile72Val) | |
| MT | m.4683A>T | CA414775300 | MT-ND2 | c.214A>T (p.Ile72Leu) | |
| MT | m.4684T>A | CA414775304 | MT-ND2 | c.215T>A (p.Ile72Lys) | |
| MT | m.4684T>C | CA414775305 | MT-ND2 | c.215T>C (p.Ile72Thr) | |
| MT | m.4684T>G | CA414775303 | MT-ND2 | c.215T>G (p.Ile72Arg) | |
| MT | m.4684T= | CA2573330162 | MT-ND2 | c.215T= (p.Ile72=) | |
| MT | m.4685A= | CA2499563968 | MT-ND2 | c.216A= (p.Ile72=) | |
| MT | m.4685A>C | CA913178573 | MT-ND2 | c.216A>C (p.Ile72=) | |
| MT | m.4685A>G | CA414775306 | MT-ND2 | c.216A>G (p.Ile72Met) | dbSNP |
| MT | m.4685A>T | CA913178574 | MT-ND2 | c.216A>T (p.Ile72=) | |
| MT | m.4686G>A | CA414775307 | MT-ND2 | c.217G>A (p.Ala73Thr) | dbSNP |
| MT | m.4686G>C | CA414775308 | MT-ND2 | c.217G>C (p.Ala73Pro) | |
| MT | m.4686G= | CA2573330164 | MT-ND2 | c.217G= (p.Ala73=) | |
| MT | m.4686G>T | CA414775309 | MT-ND2 | c.217G>T (p.Ala73Ser) | |
| MT | m.4687C>A | CA414775310 | MT-ND2 | c.218C>A (p.Ala73Asp) | |
| MT | m.4687C= | CA2513015705 | MT-ND2 | c.218C= (p.Ala73=) | |
| MT | m.4687C>G | CA414775311 | MT-ND2 | c.218C>G (p.Ala73Gly) | |
| MT | m.4687C>T | CA414775312 | MT-ND2 | c.218C>T (p.Ala73Val) | |
| MT | m.4688T>A | CA913178577 | MT-ND2 | c.219T>A (p.Ala73=) | dbSNP |
| MT | m.4688T>C | CA10581339 | MT-ND2 | c.219T>C (p.Ala73=) | ClinVar dbSNP |
| MT | m.4688T>G | CA913178581 | MT-ND2 | c.219T>G (p.Ala73=) | |
| MT | m.4688T= | CA2499563969 | MT-ND2 | c.219T= (p.Ala73=) | |
| MT | m.4689A= | CA2499563970 | MT-ND2 | c.220A= (p.Ile74=) | |
| MT | m.4689A>C | CA414775316 | MT-ND2 | c.220A>C (p.Ile74Leu) | |
| MT | m.4689A>G | CA414775317 | MT-ND2 | c.220A>G (p.Ile74Val) | ClinVar dbSNP |
| MT | m.4689A>T | CA414775326 | MT-ND2 | c.220A>T (p.Ile74Phe) | |
| MT | m.4690T>A | CA414775332 | MT-ND2 | c.221T>A (p.Ile74Asn) | |
| MT | m.4690T>C | CA414775330 | MT-ND2 | c.221T>C (p.Ile74Thr) | ClinVar dbSNP |
| MT | m.4690T>G | CA414775328 | MT-ND2 | c.221T>G (p.Ile74Ser) | |
| MT | m.4690T= | CA2499563971 | MT-ND2 | c.221T= (p.Ile74=) | |
| MT | m.4691C>A | CA913178582 | MT-ND2 | c.222C>A (p.Ile74=) | |
| MT | m.4691C= | CA2499563972 | MT-ND2 | c.222C= (p.Ile74=) | |
| MT | m.4691C>G | CA414775334 | MT-ND2 | c.222C>G (p.Ile74Met) | |
| MT | m.4691C>T | CA913178583 | MT-ND2 | c.222C>T (p.Ile74=) | dbSNP |
| MT | m.4692C>A | CA414775337 | MT-ND2 | c.223C>A (p.Leu75Ile) | |
| MT | m.4692C= | CA2573330177 | MT-ND2 | c.223C= (p.Leu75=) | |
| MT | m.4692C>G | CA414775339 | MT-ND2 | c.223C>G (p.Leu75Val) | |
| MT | m.4692C>T | CA414775341 | MT-ND2 | c.223C>T (p.Leu75Phe) | |
| MT | m.4693T>A | CA414775344 | MT-ND2 | c.224T>A (p.Leu75His) | |
| MT | m.4693T>C | CA414775345 | MT-ND2 | c.224T>C (p.Leu75Pro) | dbSNP |
| MT | m.4693T>G | CA414775348 | MT-ND2 | c.224T>G (p.Leu75Arg) | |
| MT | m.4693T= | CA2499563973 | MT-ND2 | c.224T= (p.Leu75=) | |
| MT | m.4694C>A | CA913178589 | MT-ND2 | c.225C>A (p.Leu75=) | |
| MT | m.4694C= | CA2499563974 | MT-ND2 | c.225C= (p.Leu75=) | |
| MT | m.4694C>G | CA913178588 | MT-ND2 | c.225C>G (p.Leu75=) | |
| MT | m.4694C>T | CA913178584 | MT-ND2 | c.225C>T (p.Leu75=) | dbSNP |
| MT | m.4695T>A | CA414775351 | MT-ND2 | c.226T>A (p.Phe76Ile) | |
| MT | m.4695T>C | CA414775353 | MT-ND2 | c.226T>C (p.Phe76Leu) | ClinVar dbSNP |
| MT | m.4695T>G | CA414775356 | MT-ND2 | c.226T>G (p.Phe76Val) | |
| MT | m.4695T= | CA2499563975 | MT-ND2 | c.226T= (p.Phe76=) | |
| MT | m.4696T>A | CA414775358 | MT-ND2 | c.227T>A (p.Phe76Tyr) | |
| MT | m.4696T>C | CA414775360 | MT-ND2 | c.227T>C (p.Phe76Ser) | ClinVar dbSNP |
| MT | m.4696T>G | CA414775363 | MT-ND2 | c.227T>G (p.Phe76Cys) | |
| MT | m.4696T= | CA2499563976 | MT-ND2 | c.227T= (p.Phe76=) | |
| MT | m.4697C>A | CA337096937 | MT-ND2 | c.228C>A (p.Phe76Leu) | |
| MT | m.4697C= | CA2499563977 | MT-ND2 | c.228C= (p.Phe76=) | |
| MT | m.4697C>G | CA337096939 | MT-ND2 | c.228C>G (p.Phe76Leu) | |
| MT | m.4697C>T | CA913178590 | MT-ND2 | c.228C>T (p.Phe76=) | dbSNP |
| MT | m.4698A= | CA2573330181 | MT-ND2 | c.229A= (p.Asn77=) | |
| MT | m.4698A>C | CA414775365 | MT-ND2 | c.229A>C (p.Asn77His) | |
| MT | m.4698A>G | CA414775367 | MT-ND2 | c.229A>G (p.Asn77Asp) | |
| MT | m.4698A>T | CA414775369 | MT-ND2 | c.229A>T (p.Asn77Tyr) | |
| MT | m.4699A= | CA2573330182 | MT-ND2 | c.230A= (p.Asn77=) | |
| MT | m.4699A>C | CA414775371 | MT-ND2 | c.230A>C (p.Asn77Thr) | |
| MT | m.4699A>G | CA414775373 | MT-ND2 | c.230A>G (p.Asn77Ser) | |
| MT | m.4699A>T | CA414775375 | MT-ND2 | c.230A>T (p.Asn77Ile) | |
| MT | m.4700C>A | CA414775377 | MT-ND2 | c.231C>A (p.Asn77Lys) | |
| MT | m.4700C= | CA2499563978 | MT-ND2 | c.231C= (p.Asn77=) | |
| MT | m.4700C>G | CA414775379 | MT-ND2 | c.231C>G (p.Asn77Lys) | |
| MT | m.4700C>T | CA913178592 | MT-ND2 | c.231C>T (p.Asn77=) | dbSNP |
| MT | m.4701A= | CA2573330184 | MT-ND2 | c.232A= (p.Asn78=) | |
| MT | m.4701A>C | CA414775382 | MT-ND2 | c.232A>C (p.Asn78His) | |
| MT | m.4701A>G | CA414775384 | MT-ND2 | c.232A>G (p.Asn78Asp) | |
| MT | m.4701A>T | CA414775386 | MT-ND2 | c.232A>T (p.Asn78Tyr) | |
| MT | m.4702A= | CA2499563979 | MT-ND2 | c.233A= (p.Asn78=) | |
| MT | m.4702A>C | CA414775388 | MT-ND2 | c.233A>C (p.Asn78Thr) | |
| MT | m.4702A>G | CA414775390 | MT-ND2 | c.233A>G (p.Asn78Ser) | ClinVar dbSNP |
| MT | m.4702A>T | CA414775391 | MT-ND2 | c.233A>T (p.Asn78Ile) | |
| MT | m.4703T>A | CA337096943 | MT-ND2 | c.234T>A (p.Asn78Lys) | |
| MT | m.4703T>C | CA913178595 | MT-ND2 | c.234T>C (p.Asn78=) | dbSNP |
| MT | m.4703T>G | CA337096941 | MT-ND2 | c.234T>G (p.Asn78Lys) | |
| MT | m.4703T= | CA2499563980 | MT-ND2 | c.234T= (p.Asn78=) | |
| MT | m.4704A= | CA2499563981 | MT-ND2 | c.235A= (p.Ile79=) | |
| MT | m.4704A>C | CA414775398 | MT-ND2 | c.235A>C (p.Ile79Leu) | dbSNP |
| MT | m.4704A>G | CA414775399 | MT-ND2 | c.235A>G (p.Ile79Val) | |
| MT | m.4704A>T | CA414775400 | MT-ND2 | c.235A>T (p.Ile79Leu) | |
| MT | m.4705T>A | CA414775404 | MT-ND2 | c.236T>A (p.Ile79Lys) | |
| MT | m.4705T>C | CA414775405 | MT-ND2 | c.236T>C (p.Ile79Thr) | ClinVar dbSNP |
| MT | m.4705T>G | CA414775407 | MT-ND2 | c.236T>G (p.Ile79Arg) | |
| MT | m.4705T= | CA2499563982 | MT-ND2 | c.236T= (p.Ile79=) | |
| MT | m.4706A= | CA2499563983 | MT-ND2 | c.237A= (p.Ile79=) | |
| MT | m.4706A>C | CA913178599 | MT-ND2 | c.237A>C (p.Ile79=) | |
| MT | m.4706A>G | CA414775410 | MT-ND2 | c.237A>G (p.Ile79Met) | dbSNP |
| MT | m.4706A>T | CA913178598 | MT-ND2 | c.237A>T (p.Ile79=) | |
| MT | m.4707C>A | CA414775412 | MT-ND2 | c.238C>A (p.Leu80Ile) | |
| MT | m.4707C= | CA2499563984 | MT-ND2 | c.238C= (p.Leu80=) | |
| MT | m.4707C>G | CA414775414 | MT-ND2 | c.238C>G (p.Leu80Val) | |
| MT | m.4707C>T | CA414775416 | MT-ND2 | c.238C>T (p.Leu80Phe) | ClinVar dbSNP |
| MT | m.4708T>A | CA414775418 | MT-ND2 | c.239T>A (p.Leu80His) | |
| MT | m.4708T>C | CA414775419 | MT-ND2 | c.239T>C (p.Leu80Pro) | |
| MT | m.4708T>G | CA414775421 | MT-ND2 | c.239T>G (p.Leu80Arg) | |
| MT | m.4708T= | CA2573330187 | MT-ND2 | c.239T= (p.Leu80=) | |
| MT | m.4709C>A | CA913178602 | MT-ND2 | c.240C>A (p.Leu80=) | |
| MT | m.4709C= | CA2573330190 | MT-ND2 | c.240C= (p.Leu80=) | |
| MT | m.4709C>G | CA913178601 | MT-ND2 | c.240C>G (p.Leu80=) | |
| MT | m.4709C>T | CA913178600 | MT-ND2 | c.240C>T (p.Leu80=) | |
| MT | m.4710T>A | CA414775424 | MT-ND2 | c.241T>A (p.Ser81Thr) | dbSNP |
| MT | m.4710T>C | CA414775431 | MT-ND2 | c.241T>C (p.Ser81Pro) | |
| MT | m.4710T>G | CA414775425 | MT-ND2 | c.241T>G (p.Ser81Ala) | |
| MT | m.4710T= | CA2499563985 | MT-ND2 | c.241T= (p.Ser81=) | |
| MT | m.4711C>A | CA414775434 | MT-ND2 | c.242C>A (p.Ser81Tyr) | |
| MT | m.4711C= | CA2573330194 | MT-ND2 | c.242C= (p.Ser81=) | |
| MT | m.4711C>G | CA414775436 | MT-ND2 | c.242C>G (p.Ser81Cys) | |
| MT | m.4711C>T | CA414775437 | MT-ND2 | c.242C>T (p.Ser81Phe) | |
| MT | m.4712C>A | CA913178604 | MT-ND2 | c.243C>A (p.Ser81=) | |
| MT | m.4712C= | CA2573330195 | MT-ND2 | c.243C= (p.Ser81=) | |
| MT | m.4712C>G | CA913178605 | MT-ND2 | c.243C>G (p.Ser81=) | |
| MT | m.4712C>T | CA913178606 | MT-ND2 | c.243C>T (p.Ser81=) | dbSNP |
| MT | m.4713G>A | CA414775440 | MT-ND2 | c.244G>A (p.Gly82Arg) | dbSNP |
| MT | m.4713G>C | CA414775442 | MT-ND2 | c.244G>C (p.Gly82Arg) | |
| MT | m.4713G= | CA2573330196 | MT-ND2 | c.244G= (p.Gly82=) | |
| MT | m.4713G>T | CA414775443 | MT-ND2 | c.244G>T (p.Gly82Ter) | |
| MT | m.4714G>A | CA414775446 | MT-ND2 | c.245G>A (p.Gly82Glu) | dbSNP |
| MT | m.4714G>C | CA414775447 | MT-ND2 | c.245G>C (p.Gly82Ala) | |
| MT | m.4714G= | CA2513192064 | MT-ND2 | c.245G= (p.Gly82=) | |
| MT | m.4714G>T | CA414775450 | MT-ND2 | c.245G>T (p.Gly82Val) | |
| MT | m.4715A= | CA2499563986 | MT-ND2 | c.246A= (p.Gly82=) | |
| MT | m.4715A>C | CA913178611 | MT-ND2 | c.246A>C (p.Gly82=) | |
| MT | m.4715A>G | CA337096945 | MT-ND2 | c.246A>G (p.Gly82=) | dbSNP |
| MT | m.4715A>T | CA913178610 | MT-ND2 | c.246A>T (p.Gly82=) | |
| MT | m.4716C>A | CA414775454 | MT-ND2 | c.247C>A (p.Gln83Lys) | |
| MT | m.4716C= | CA2573330199 | MT-ND2 | c.247C= (p.Gln83=) | |
| MT | m.4716C>G | CA414775456 | MT-ND2 | c.247C>G (p.Gln83Glu) | |
| MT | m.4716C>T | CA414775458 | MT-ND2 | c.247C>T (p.Gln83Ter) | |
| MT | m.4717A= | CA2499563987 | MT-ND2 | c.248A= (p.Gln83=) | |
| MT | m.4717A>C | CA414775461 | MT-ND2 | c.248A>C (p.Gln83Pro) | |
| MT | m.4717A>G | CA414775464 | MT-ND2 | c.248A>G (p.Gln83Arg) | |
| MT | m.4717A>T | CA414775463 | MT-ND2 | c.248A>T (p.Gln83Leu) | ClinVar dbSNP |
| MT | m.4718A= | CA2499563988 | MT-ND2 | c.249A= (p.Gln83=) | |
| MT | m.4718A>C | CA414775467 | MT-ND2 | c.249A>C (p.Gln83His) | |
| MT | m.4718A>G | CA913178612 | MT-ND2 | c.249A>G (p.Gln83=) | dbSNP |
| MT | m.4718A>T | CA414775469 | MT-ND2 | c.249A>T (p.Gln83His) | |
| MT | m.4719T>A | CA414775471 | MT-ND2 | c.250T>A (p.Ter84Arg) | |
| MT | m.4719T>C | CA414775474 | MT-ND2 | c.250T>C (p.Ter84Arg) | |
| MT | m.4719T>G | CA414775475 | MT-ND2 | c.250T>G (p.Ter84Gly) | |
| MT | m.4719T= | CA414775478 | MT-ND2 | c.250T= (p.Ter84=) | |
| MT | m.4720G>A | CA414775479 | MT-ND2 | c.251G>A (p.Ter84=) | dbSNP |
| MT | m.4720G>C | CA414775481 | MT-ND2 | c.251G>C (p.Ter84Ser) | |
| MT | m.4720G= | CA414775483 | MT-ND2 | c.251G= (p.Ter84=) | |
| MT | m.4720G>T | CA414775485 | MT-ND2 | c.251G>T (p.Ter84Leu) | |
| MT | m.4721A= | CA414775487 | MT-ND2 | c.252A= (p.Ter84=) | |
| MT | m.4721A>C | CA414775491 | MT-ND2 | c.252A>C (p.Ter84Cys) | |
| MT | m.4721A>G | CA414775492 | MT-ND2 | c.252A>G (p.Ter84Trp) | dbSNP |
| MT | m.4721A>T | CA414775489 | MT-ND2 | c.252A>T (p.Ter84Cys) | |
| MT | m.4722A= | CA913178620 | MT-ND2 | c.253A= (p.Thr85=) | |
| MT | m.4722A>C | CA414775496 | MT-ND2 | c.253A>C (p.Thr85Pro) | |
| MT | m.4722A>G | CA414775494 | MT-ND2 | c.253A>G (p.Thr85Ala) | ClinVar dbSNP |
| MT | m.4722A>T | CA414775497 | MT-ND2 | c.253A>T (p.Thr85Ser) | |
| MT | m.4723C>A | CA414775500 | MT-ND2 | c.254C>A (p.Thr85Asn) | |
| MT | m.4723C= | CA2573330206 | MT-ND2 | c.254C= (p.Thr85=) | |
| MT | m.4723C>G | CA414775501 | MT-ND2 | c.254C>G (p.Thr85Ser) | |
| MT | m.4723C>T | CA414775503 | MT-ND2 | c.254C>T (p.Thr85Ile) | |
| MT | m.4724C>A | CA913178623 | MT-ND2 | c.255C>A (p.Thr85=) | |
| MT | m.4724C= | CA2573330210 | MT-ND2 | c.255C= (p.Thr85=) | |
| MT | m.4724C>G | CA913178622 | MT-ND2 | c.255C>G (p.Thr85=) | |
| MT | m.4724C>T | CA913178621 | MT-ND2 | c.255C>T (p.Thr85=) | |
| MT | m.4725A= | CA2499563989 | MT-ND2 | c.256A= (p.Ile86=) | |
| MT | m.4725A>C | CA414775505 | MT-ND2 | c.256A>C (p.Ile86Leu) | ClinVar dbSNP |
| MT | m.4725A>G | CA414775507 | MT-ND2 | c.256A>G (p.Ile86Val) | |
| MT | m.4725A>T | CA414775509 | MT-ND2 | c.256A>T (p.Ile86Leu) | ClinVar dbSNP |
| MT | m.4726T>A | CA414775511 | MT-ND2 | c.257T>A (p.Ile86Lys) | |
| MT | m.4726T>C | CA414775513 | MT-ND2 | c.257T>C (p.Ile86Thr) | |
| MT | m.4726T>G | CA414775514 | MT-ND2 | c.257T>G (p.Ile86Arg) | |
| MT | m.4726T= | CA2573330232 | MT-ND2 | c.257T= (p.Ile86=) | |
| MT | m.4727A= | CA2499563990 | MT-ND2 | c.258A= (p.Ile86=) | |
| MT | m.4727A>C | CA913178628 | MT-ND2 | c.258A>C (p.Ile86=) | |
| MT | m.4727A>G | CA414775516 | MT-ND2 | c.258A>G (p.Ile86Met) | dbSNP |
| MT | m.4727A>T | CA913178627 | MT-ND2 | c.258A>T (p.Ile86=) | |
| MT | m.4728A= | CA2499563991 | MT-ND2 | c.259A= (p.Thr87=) | |
| MT | m.4728A>C | CA414775519 | MT-ND2 | c.259A>C (p.Thr87Pro) | |
| MT | m.4728A>G | CA414775520 | MT-ND2 | c.259A>G (p.Thr87Ala) | ClinVar dbSNP |
| MT | m.4728A>T | CA414775522 | MT-ND2 | c.259A>T (p.Thr87Ser) | dbSNP |
| MT | m.4729C>A | CA414775525 | MT-ND2 | c.260C>A (p.Thr87Asn) | |
| MT | m.4729C= | CA2573330249 | MT-ND2 | c.260C= (p.Thr87=) | |
| MT | m.4729C>G | CA414775528 | MT-ND2 | c.260C>G (p.Thr87Ser) | |
| MT | m.4729C>T | CA414775526 | MT-ND2 | c.260C>T (p.Thr87Ile) | |
| MT | m.4730C>A | CA913178631 | MT-ND2 | c.261C>A (p.Thr87=) | |
| MT | m.4730C= | CA2573330252 | MT-ND2 | c.261C= (p.Thr87=) | |
| MT | m.4730C>G | CA913178632 | MT-ND2 | c.261C>G (p.Thr87=) | |
| MT | m.4730C>T | CA913178633 | MT-ND2 | c.261C>T (p.Thr87=) | |
| MT | m.4731A= | CA2573330254 | MT-ND2 | c.262A= (p.Asn88=) | |
| MT | m.4731A>C | CA414775530 | MT-ND2 | c.262A>C (p.Asn88His) | |
| MT | m.4731A>G | CA414775532 | MT-ND2 | c.262A>G (p.Asn88Asp) | |
| MT | m.4731A>T | CA414775534 | MT-ND2 | c.262A>T (p.Asn88Tyr) | |
| MT | m.4732A= | CA2499563992 | MT-ND2 | c.263A= (p.Asn88=) | |
| MT | m.4732A>C | CA414775536 | MT-ND2 | c.263A>C (p.Asn88Thr) | |
| MT | m.4732A>G | CA337096947 | MT-ND2 | c.263A>G (p.Asn88Ser) | ClinVar dbSNP |
| MT | m.4732A>T | CA414775538 | MT-ND2 | c.263A>T (p.Asn88Ile) | |
| MT | m.4733T>A | CA414775540 | MT-ND2 | c.264T>A (p.Asn88Lys) | |
| MT | m.4733T>C | CA10581365 | MT-ND2 | c.264T>C (p.Asn88=) | ClinVar dbSNP |
| MT | m.4733T>G | CA414775543 | MT-ND2 | c.264T>G (p.Asn88Lys) | |
| MT | m.4733T= | CA2499563993 | MT-ND2 | c.264T= (p.Asn88=) | |
| MT | m.4734A= | CA2499563994 | MT-ND2 | c.265A= (p.Thr89=) | |
| MT | m.4734A>C | CA414775549 | MT-ND2 | c.265A>C (p.Thr89Pro) | |
| MT | m.4734A>G | CA414775548 | MT-ND2 | c.265A>G (p.Thr89Ala) | ClinVar dbSNP |
| MT | m.4734A>T | CA414775546 | MT-ND2 | c.265A>T (p.Thr89Ser) | |
| MT | m.4735C>A | CA414775551 | MT-ND2 | c.266C>A (p.Thr89Asn) | ClinVar dbSNP |
| MT | m.4735C= | CA2499563995 | MT-ND2 | c.266C= (p.Thr89=) | |
| MT | m.4735C>G | CA414775553 | MT-ND2 | c.266C>G (p.Thr89Ser) | ClinVar dbSNP |
| MT | m.4735C>T | CA414775555 | MT-ND2 | c.266C>T (p.Thr89Ile) | |
| MT | m.4736T>A | CA913178639 | MT-ND2 | c.267T>A (p.Thr89=) | |
| MT | m.4736T>C | CA913178637 | MT-ND2 | c.267T>C (p.Thr89=) | dbSNP |
| MT | m.4736T>G | CA913178638 | MT-ND2 | c.267T>G (p.Thr89=) | |
| MT | m.4736T= | CA2499563996 | MT-ND2 | c.267T= (p.Thr89=) | |
| MT | m.4737A= | CA2573330289 | MT-ND2 | c.268A= (p.Thr90=) | |
| MT | m.4737A>C | CA414775557 | MT-ND2 | c.268A>C (p.Thr90Pro) | |
| MT | m.4737A>G | CA414775559 | MT-ND2 | c.268A>G (p.Thr90Ala) | |
| MT | m.4737A>T | CA414775560 | MT-ND2 | c.268A>T (p.Thr90Ser) | |
| MT | m.4738C>A | CA414775562 | MT-ND2 | c.269C>A (p.Thr90Asn) | |
| MT | m.4738C= | CA2573330295 | MT-ND2 | c.269C= (p.Thr90=) | |
| MT | m.4738C>G | CA414775564 | MT-ND2 | c.269C>G (p.Thr90Ser) | |
| MT | m.4738C>T | CA414775566 | MT-ND2 | c.269C>T (p.Thr90Ile) | |
| MT | m.4739C>A | CA913178646 | MT-ND2 | c.270C>A (p.Thr90=) | |
| MT | m.4739C= | CA2499563997 | MT-ND2 | c.270C= (p.Thr90=) | |
| MT | m.4739C>G | CA913178645 | MT-ND2 | c.270C>G (p.Thr90=) | |
| MT | m.4739C>T | CA913178647 | MT-ND2 | c.270C>T (p.Thr90=) | dbSNP |
| MT | m.4740A= | CA2573330304 | MT-ND2 | c.271A= (p.Asn91=) | |
| MT | m.4740A>C | CA414775568 | MT-ND2 | c.271A>C (p.Asn91His) | |
| MT | m.4740A>G | CA414775570 | MT-ND2 | c.271A>G (p.Asn91Asp) | |
| MT | m.4740A>T | CA414775572 | MT-ND2 | c.271A>T (p.Asn91Tyr) | |
| MT | m.4741A= | CA2573330308 | MT-ND2 | c.272A= (p.Asn91=) | |
| MT | m.4741A>C | CA414775577 | MT-ND2 | c.272A>C (p.Asn91Thr) | |
| MT | m.4741A>G | CA414775574 | MT-ND2 | c.272A>G (p.Asn91Ser) | |
| MT | m.4741A>T | CA414775576 | MT-ND2 | c.272A>T (p.Asn91Ile) | |
| MT | m.4742T>A | CA414775579 | MT-ND2 | c.273T>A (p.Asn91Lys) | |
| MT | m.4742T>C | CA913178648 | MT-ND2 | c.273T>C (p.Asn91=) | dbSNP |
| MT | m.4742T>G | CA414775581 | MT-ND2 | c.273T>G (p.Asn91Lys) | |
| MT | m.4742T= | CA2499563998 | MT-ND2 | c.273T= (p.Asn91=) | |
| MT | m.4743C>A | CA414775583 | MT-ND2 | c.274C>A (p.Gln92Lys) | |
| MT | m.4743C= | CA2573330325 | MT-ND2 | c.274C= (p.Gln92=) | |
| MT | m.4743C>G | CA414775585 | MT-ND2 | c.274C>G (p.Gln92Glu) | |
| MT | m.4743C>T | CA414775587 | MT-ND2 | c.274C>T (p.Gln92Ter) | |
| MT | m.4744A= | CA2573330331 | MT-ND2 | c.275A= (p.Gln92=) | |
| MT | m.4744A>C | CA414775589 | MT-ND2 | c.275A>C (p.Gln92Pro) | |
| MT | m.4744A>G | CA414775590 | MT-ND2 | c.275A>G (p.Gln92Arg) | |
| MT | m.4744A>T | CA414775592 | MT-ND2 | c.275A>T (p.Gln92Leu) | |
| MT | m.4745A= | CA2499563999 | MT-ND2 | c.276A= (p.Gln92=) | |
| MT | m.4745A>C | CA414775595 | MT-ND2 | c.276A>C (p.Gln92His) | |
| MT | m.4745A>G | CA913178652 | MT-ND2 | c.276A>G (p.Gln92=) | dbSNP |
| MT | m.4745A>T | CA414775596 | MT-ND2 | c.276A>T (p.Gln92His) | ClinVar dbSNP |
| MT | m.4746T>A | CA414775602 | MT-ND2 | c.277T>A (p.Tyr93Asn) | |
| MT | m.4746T>C | CA414775600 | MT-ND2 | c.277T>C (p.Tyr93His) | ClinVar dbSNP |
| MT | m.4746T>G | CA414775598 | MT-ND2 | c.277T>G (p.Tyr93Asp) | |
| MT | m.4746T= | CA2499564000 | MT-ND2 | c.277T= (p.Tyr93=) | |
| MT | m.4747A= | CA2573330343 | MT-ND2 | c.278A= (p.Tyr93=) | |
| MT | m.4747A>C | CA414775604 | MT-ND2 | c.278A>C (p.Tyr93Ser) | |
| MT | m.4747A>G | CA414775607 | MT-ND2 | c.278A>G (p.Tyr93Cys) | |
| MT | m.4747A>T | CA414775606 | MT-ND2 | c.278A>T (p.Tyr93Phe) | |
| MT | m.4748C>A | CA414775609 | MT-ND2 | c.279C>A (p.Tyr93Ter) | |
| MT | m.4748C= | CA2499564001 | MT-ND2 | c.279C= (p.Tyr93=) | |
| MT | m.4748C>G | CA414775611 | MT-ND2 | c.279C>G (p.Tyr93Ter) | |
| MT | m.4748C>T | CA913178653 | MT-ND2 | c.279C>T (p.Tyr93=) | dbSNP |
| MT | m.4749T>A | CA414775613 | MT-ND2 | c.280T>A (p.Ser94Thr) | |
| MT | m.4749T>C | CA414775615 | MT-ND2 | c.280T>C (p.Ser94Pro) | ClinVar dbSNP |
| MT | m.4749T>G | CA414775617 | MT-ND2 | c.280T>G (p.Ser94Ala) | |
| MT | m.4749T= | CA2499564002 | MT-ND2 | c.280T= (p.Ser94=) | |
| MT | m.4750C>A | CA414775619 | MT-ND2 | c.281C>A (p.Ser94Ter) | |
| MT | m.4750C= | CA2573330355 | MT-ND2 | c.281C= (p.Ser94=) | |
| MT | m.4750C>G | CA414775622 | MT-ND2 | c.281C>G (p.Ser94Ter) | |
| MT | m.4750C>T | CA414775623 | MT-ND2 | c.281C>T (p.Ser94Leu) | |
| MT | m.4751A= | CA2573330357 | MT-ND2 | c.282A= (p.Ser94=) | |
| MT | m.4751A>C | CA913178660 | MT-ND2 | c.282A>C (p.Ser94=) | |
| MT | m.4751A>G | CA913178661 | MT-ND2 | c.282A>G (p.Ser94=) | |
| MT | m.4751A>T | CA913178662 | MT-ND2 | c.282A>T (p.Ser94=) | |
| MT | m.4752T>A | CA414775626 | MT-ND2 | c.283T>A (p.Ser95Thr) | |
| MT | m.4752T>C | CA414775628 | MT-ND2 | c.283T>C (p.Ser95Pro) | dbSNP |
| MT | m.4752T>G | CA414775629 | MT-ND2 | c.283T>G (p.Ser95Ala) | |
| MT | m.4752T= | CA2499564003 | MT-ND2 | c.283T= (p.Ser95=) | |
| MT | m.4753C>A | CA414775636 | MT-ND2 | c.284C>A (p.Ser95Ter) | |
| MT | m.4753C= | CA2573330362 | MT-ND2 | c.284C= (p.Ser95=) | |
| MT | m.4753C>G | CA414775632 | MT-ND2 | c.284C>G (p.Ser95Ter) | |
| MT | m.4753C>T | CA414775634 | MT-ND2 | c.284C>T (p.Ser95Leu) | |
| MT | m.4754A= | CA2573330367 | MT-ND2 | c.285A= (p.Ser95=) | |
| MT | m.4754A>C | CA913178667 | MT-ND2 | c.285A>C (p.Ser95=) | |
| MT | m.4754A>G | CA913178668 | MT-ND2 | c.285A>G (p.Ser95=) | |
| MT | m.4754A>T | CA913178669 | MT-ND2 | c.285A>T (p.Ser95=) | |
| MT | m.4755T>A | CA414775637 | MT-ND2 | c.286T>A (p.Leu96Ile) | |
| MT | m.4755T>C | CA913178670 | MT-ND2 | c.286T>C (p.Leu96=) | dbSNP |
| MT | m.4755T>G | CA414775638 | MT-ND2 | c.286T>G (p.Leu96Val) | |
| MT | m.4755T= | CA2499564004 | MT-ND2 | c.286T= (p.Leu96=) | |
| MT | m.4756T>A | CA414775641 | MT-ND2 | c.287T>A (p.Leu96Ter) | |
| MT | m.4756T>C | CA414775643 | MT-ND2 | c.287T>C (p.Leu96Ser) | |
| MT | m.4756T>G | CA414775645 | MT-ND2 | c.287T>G (p.Leu96Ter) | |
| MT | m.4756T= | CA2573330373 | MT-ND2 | c.287T= (p.Leu96=) | |
| MT | m.4757A= | CA2573330376 | MT-ND2 | c.288A= (p.Leu96=) | |
| MT | m.4757A>C | CA414775648 | MT-ND2 | c.288A>C (p.Leu96Phe) | |
| MT | m.4757A>G | CA913178671 | MT-ND2 | c.288A>G (p.Leu96=) | |
| MT | m.4757A>T | CA414775649 | MT-ND2 | c.288A>T (p.Leu96Phe) | |
| MT | m.4758A= | CA2573330385 | MT-ND2 | c.289A= (p.Ile97=) | |
| MT | m.4758A>C | CA414775652 | MT-ND2 | c.289A>C (p.Ile97Leu) | |
| MT | m.4758A>G | CA414775653 | MT-ND2 | c.289A>G (p.Ile97Val) | |
| MT | m.4758A>T | CA414775654 | MT-ND2 | c.289A>T (p.Ile97Leu) | |
| MT | m.4759T>A | CA414775662 | MT-ND2 | c.290T>A (p.Ile97Lys) | |
| MT | m.4759T>C | CA414775660 | MT-ND2 | c.290T>C (p.Ile97Thr) | ClinVar dbSNP |
| MT | m.4759T>G | CA414775658 | MT-ND2 | c.290T>G (p.Ile97Arg) | |
| MT | m.4759T= | CA2499564005 | MT-ND2 | c.290T= (p.Ile97=) | |
| MT | m.4760A= | CA2499564006 | MT-ND2 | c.291A= (p.Ile97=) | |
| MT | m.4760A>C | CA913178673 | MT-ND2 | c.291A>C (p.Ile97=) | |
| MT | m.4760A>G | CA414775663 | MT-ND2 | c.291A>G (p.Ile97Met) | dbSNP |
| MT | m.4760A>T | CA913178674 | MT-ND2 | c.291A>T (p.Ile97=) | |
| MT | m.4761A= | CA2573330392 | MT-ND2 | c.292A= (p.Ile98=) | |
| MT | m.4761A>C | CA414775665 | MT-ND2 | c.292A>C (p.Ile98Leu) | |
| MT | m.4761A>G | CA414775667 | MT-ND2 | c.292A>G (p.Ile98Val) | |
| MT | m.4761A>T | CA414775668 | MT-ND2 | c.292A>T (p.Ile98Phe) | |
| MT | m.4762T>A | CA414775671 | MT-ND2 | c.293T>A (p.Ile98Asn) | |
| MT | m.4762T>C | CA414775673 | MT-ND2 | c.293T>C (p.Ile98Thr) | ClinVar dbSNP |
| MT | m.4762T>G | CA414775675 | MT-ND2 | c.293T>G (p.Ile98Ser) | |
| MT | m.4762T= | CA2499564007 | MT-ND2 | c.293T= (p.Ile98=) | |
| MT | m.4763C>A | CA913178675 | MT-ND2 | c.294C>A (p.Ile98=) | ClinVar dbSNP |
| MT | m.4763C= | CA2499564008 | MT-ND2 | c.294C= (p.Ile98=) | |
| MT | m.4763C>G | CA414775677 | MT-ND2 | c.294C>G (p.Ile98Met) | |
| MT | m.4763C>T | CA913178676 | MT-ND2 | c.294C>T (p.Ile98=) | dbSNP |
| MT | m.4764A= | CA2499564009 | MT-ND2 | c.295A= (p.Ile99=) | |
| MT | m.4764A>C | CA414775680 | MT-ND2 | c.295A>C (p.Ile99Leu) | |
| MT | m.4764A>G | CA414775681 | MT-ND2 | c.295A>G (p.Ile99Val) | ClinVar dbSNP |
| MT | m.4764A>T | CA414775683 | MT-ND2 | c.295A>T (p.Ile99Leu) | |
| MT | m.4765T>A | CA414775689 | MT-ND2 | c.296T>A (p.Ile99Lys) | |
| MT | m.4765T>C | CA414775687 | MT-ND2 | c.296T>C (p.Ile99Thr) | ClinVar dbSNP |
| MT | m.4765T>G | CA414775686 | MT-ND2 | c.296T>G (p.Ile99Arg) | |
| MT | m.4765T= | CA2499564010 | MT-ND2 | c.296T= (p.Ile99=) | |
| MT | m.4766A= | CA2573330430 | MT-ND2 | c.297A= (p.Ile99=) | |
| MT | m.4766A>C | CA913178680 | MT-ND2 | c.297A>C (p.Ile99=) | |
| MT | m.4766A>G | CA414775691 | MT-ND2 | c.297A>G (p.Ile99Met) | |
| MT | m.4766A>T | CA913178681 | MT-ND2 | c.297A>T (p.Ile99=) | |
| MT | m.4767A= | CA2499564011 | MT-ND2 | c.298A= (p.Ile100=) | |
| MT | m.4767A>C | CA414775693 | MT-ND2 | c.298A>C (p.Ile100Leu) | dbSNP |
| MT | m.4767A>G | CA414775695 | MT-ND2 | c.298A>G (p.Ile100Val) | ClinVar dbSNP |
| MT | m.4767A>T | CA414775697 | MT-ND2 | c.298A>T (p.Ile100Leu) | |
| MT | m.4768T>A | CA414775699 | MT-ND2 | c.299T>A (p.Ile100Lys) | |
| MT | m.4768T>C | CA10581304 | MT-ND2 | c.299T>C (p.Ile100Thr) | ClinVar dbSNP |
| MT | m.4768T>G | CA414775702 | MT-ND2 | c.299T>G (p.Ile100Arg) | |
| MT | m.4768T= | CA2499564012 | MT-ND2 | c.299T= (p.Ile100=) | |
| MT | m.4768_4769delinsCG | CA915952201 | MT-ND2 | c.299_300delinsCG (p.Ile100Thr) | ClinVar dbSNP |
| MT | m.4768_4769delinsTA | CA2499564013 | MT-ND2 | c.299_300delinsTA (p.Ile100=) | |
| MT | m.4769A= | CA2499564014 | MT-ND2 | c.300A= (p.Ile100=) | |
| MT | m.4769A>C | CA913178684 | MT-ND2 | c.300A>C (p.Ile100=) | |
| MT | m.4769A>G | CA337096951 | MT-ND2 | c.300A>G (p.Ile100Met) | ClinVar dbSNP |
| MT | m.4769A>T | CA913178685 | MT-ND2 | c.300A>T (p.Ile100=) | |
| MT | m.4770G>A | CA414775706 | MT-ND2 | c.301G>A (p.Ala101Thr) | ClinVar dbSNP |
| MT | m.4770G>C | CA414775708 | MT-ND2 | c.301G>C (p.Ala101Pro) | |
| MT | m.4770G= | CA2499564015 | MT-ND2 | c.301G= (p.Ala101=) | |
| MT | m.4770G>T | CA414775710 | MT-ND2 | c.301G>T (p.Ala101Ser) | |
| MT | m.4771C>A | CA414775716 | MT-ND2 | c.302C>A (p.Ala101Asp) | |
| MT | m.4771C= | CA2573330449 | MT-ND2 | c.302C= (p.Ala101=) | |
| MT | m.4771C>G | CA414775712 | MT-ND2 | c.302C>G (p.Ala101Gly) | |
| MT | m.4771C>T | CA414775714 | MT-ND2 | c.302C>T (p.Ala101Val) | |
| MT | m.4772T>A | CA337096953 | MT-ND2 | c.303T>A (p.Ala101=) | |
| MT | m.4772T>C | CA913178687 | MT-ND2 | c.303T>C (p.Ala101=) | dbSNP |
| MT | m.4772T>G | CA337096955 | MT-ND2 | c.303T>G (p.Ala101=) | |
| MT | m.4772T= | CA2499564016 | MT-ND2 | c.303T= (p.Ala101=) | |
| MT | m.4773A= | CA2573330463 | MT-ND2 | c.304A= (p.Ile102=) | |
| MT | m.4773A>C | CA414775720 | MT-ND2 | c.304A>C (p.Ile102Leu) | |
| MT | m.4773A>G | CA414775724 | MT-ND2 | c.304A>G (p.Ile102Val) | |
| MT | m.4773A>T | CA414775722 | MT-ND2 | c.304A>T (p.Ile102Leu) | |
| MT | m.4774T>A | CA414775726 | MT-ND2 | c.305T>A (p.Ile102Lys) | |
| MT | m.4774T>C | CA414775729 | MT-ND2 | c.305T>C (p.Ile102Thr) | |
| MT | m.4774T>G | CA414775727 | MT-ND2 | c.305T>G (p.Ile102Arg) | |
| MT | m.4774T= | CA2573330469 | MT-ND2 | c.305T= (p.Ile102=) | |
| MT | m.4775A= | CA2499564017 | MT-ND2 | c.306A= (p.Ile102=) | |
| MT | m.4775A>C | CA913178688 | MT-ND2 | c.306A>C (p.Ile102=) | |
| MT | m.4775A>G | CA414775732 | MT-ND2 | c.306A>G (p.Ile102Met) | dbSNP |
| MT | m.4775A>T | CA913178689 | MT-ND2 | c.306A>T (p.Ile102=) | |
| MT | m.4776G>A | CA414775733 | MT-ND2 | c.307G>A (p.Ala103Thr) | ClinVar dbSNP |
| MT | m.4776G>C | CA414775735 | MT-ND2 | c.307G>C (p.Ala103Pro) | |
| MT | m.4776G= | CA2499564018 | MT-ND2 | c.307G= (p.Ala103=) | |
| MT | m.4776G>T | CA414775737 | MT-ND2 | c.307G>T (p.Ala103Ser) | |
| MT | m.4777C>A | CA414775739 | MT-ND2 | c.308C>A (p.Ala103Glu) | |
| MT | m.4777C= | CA2573330476 | MT-ND2 | c.308C= (p.Ala103=) | |
| MT | m.4777C>G | CA414775740 | MT-ND2 | c.308C>G (p.Ala103Gly) | |
| MT | m.4777C>T | CA414775742 | MT-ND2 | c.308C>T (p.Ala103Val) |