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 |
|---|---|---|---|---|---|
| 12 | g.88136743C>A | CA385987630 | CEP290 | c.341G>T (p.Arg114Leu) n.568G>T c.239G>T (p.Arg80Leu) c.200G>T (p.Arg67Leu) n.685G>T | |
| 12 | g.88136743C= | CA2052931466 | CEP290 | c.341G= (p.Arg114=) n.568G= c.239G= (p.Arg80=) c.200G= (p.Arg67=) n.685G= | |
| 12 | g.88136743C>G | CA385987631 | CEP290 | c.341G>C (p.Arg114Pro) n.568G>C c.239G>C (p.Arg80Pro) c.200G>C (p.Arg67Pro) n.685G>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.88136743C>T | CA246817 | CEP290 | c.341G>A (p.Arg114His) n.568G>A c.239G>A (p.Arg80His) c.200G>A (p.Arg67His) n.685G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.88136744G>A | CA6712826 | CEP290 | c.340C>T (p.Arg114Cys) n.567C>T c.238C>T (p.Arg80Cys) c.199C>T (p.Arg67Cys) n.684C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.88136744G>C | CA385987638 | CEP290 | c.340C>G (p.Arg114Gly) n.567C>G c.238C>G (p.Arg80Gly) c.199C>G (p.Arg67Gly) n.684C>G | |
| 12 | g.88136744G= | CA2052931481 | CEP290 | c.340C= (p.Arg114=) n.567C= c.238C= (p.Arg80=) c.199C= (p.Arg67=) n.684C= | |
| 12 | g.88136744G>T | CA385987636 | CEP290 | c.340C>A (p.Arg114Ser) n.567C>A c.238C>A (p.Arg80Ser) c.199C>A (p.Arg67Ser) n.684C>A | dbSNP |
| 12 | g.88136744_88136745insGCATATTG | CA2528190266 | CEP290 | c.340_341insAATATGCC (p.Arg114GlnfsTer14) n.567_568insAATATGCC c.238_239insAATATGCC (p.Arg80GlnfsTer14) c.199_200insAATATGCC (p.Arg67GlnfsTer14) n.684_685insAATATGCC | |
| 12 | g.88136745T>A | CA385987641 | CEP290 | c.339A>T (p.Leu113Phe) n.566A>T c.237A>T (p.Leu79Phe) c.198A>T (p.Leu66Phe) n.683A>T | |
| 12 | g.88136745T>C | CA481054364 | CEP290 | c.339A>G (p.Leu113=) n.566A>G c.237A>G (p.Leu79=) c.198A>G (p.Leu66=) n.683A>G | |
| 12 | g.88136745T>G | CA385987642 | CEP290 | c.339A>C (p.Leu113Phe) n.566A>C c.237A>C (p.Leu79Phe) c.198A>C (p.Leu66Phe) n.683A>C | |
| 12 | g.88136746A= | CA2052931488 | CEP290 | c.338T= (p.Leu113=) n.565T= c.236T= (p.Leu79=) c.197T= (p.Leu66=) n.682T= | |
| 12 | g.88136746A>C | CA385987644 | CEP290 | c.338T>G (p.Leu113Ter) n.565T>G c.236T>G (p.Leu79Ter) c.197T>G (p.Leu66Ter) n.682T>G | |
| 12 | g.88136746A>G | CA385987647 | CEP290 | c.338T>C (p.Leu113Ser) n.565T>C c.236T>C (p.Leu79Ser) c.197T>C (p.Leu66Ser) n.682T>C | |
| 12 | g.88136746A>T | CA385987649 | CEP290 | c.338T>A (p.Leu113Ter) n.565T>A c.236T>A (p.Leu79Ter) c.197T>A (p.Leu66Ter) n.682T>A | ClinVar dbSNP |
| 12 | g.88136747A>C | CA385987652 | CEP290 | c.337T>G (p.Leu113Val) n.564T>G c.235T>G (p.Leu79Val) c.196T>G (p.Leu66Val) n.681T>G | |
| 12 | g.88136747A>G | CA481054365 | CEP290 | c.337T>C (p.Leu113=) n.564T>C c.235T>C (p.Leu79=) c.196T>C (p.Leu66=) n.681T>C | |
| 12 | g.88136747A>T | CA385987658 | CEP290 | c.337T>A (p.Leu113Ile) n.564T>A c.235T>A (p.Leu79Ile) c.196T>A (p.Leu66Ile) n.681T>A | |
| 12 | g.88136747_88136751del | CA2562961629 | CEP290 | c.333_337del (p.Phe112ThrfsTer2) n.560_564del c.231_235del (p.Phe78ThrfsTer2) c.192_196del (p.Phe65ThrfsTer2) n.677_681del | |
| 12 | g.88136748A>C | CA385987659 | CEP290 | c.336T>G (p.Phe112Leu) n.563T>G c.234T>G (p.Phe78Leu) c.195T>G (p.Phe65Leu) n.680T>G | |
| 12 | g.88136748A>G | CA481054367 | CEP290 | c.336T>C (p.Phe112=) n.563T>C c.234T>C (p.Phe78=) c.195T>C (p.Phe65=) n.680T>C | |
| 12 | g.88136748A>T | CA385987661 | CEP290 | c.336T>A (p.Phe112Leu) n.563T>A c.234T>A (p.Phe78Leu) c.195T>A (p.Phe65Leu) n.680T>A | |
| 12 | g.88136749A>C | CA385987664 | CEP290 | c.335T>G (p.Phe112Cys) n.562T>G c.233T>G (p.Phe78Cys) c.194T>G (p.Phe65Cys) n.679T>G | |
| 12 | g.88136749A>G | CA385987668 | CEP290 | c.335T>C (p.Phe112Ser) n.562T>C c.233T>C (p.Phe78Ser) c.194T>C (p.Phe65Ser) n.679T>C | |
| 12 | g.88136749A>T | CA385987666 | CEP290 | c.335T>A (p.Phe112Tyr) n.562T>A c.233T>A (p.Phe78Tyr) c.194T>A (p.Phe65Tyr) n.679T>A | |
| 12 | g.88136750A>C | CA385987671 | CEP290 | c.334T>G (p.Phe112Val) n.561T>G c.232T>G (p.Phe78Val) c.193T>G (p.Phe65Val) n.678T>G | |
| 12 | g.88136750A>G | CA385987673 | CEP290 | c.334T>C (p.Phe112Leu) n.561T>C c.232T>C (p.Phe78Leu) c.193T>C (p.Phe65Leu) n.678T>C | |
| 12 | g.88136750A>T | CA385987675 | CEP290 | c.334T>A (p.Phe112Ile) n.561T>A c.232T>A (p.Phe78Ile) c.193T>A (p.Phe65Ile) n.678T>A | |
| 12 | g.88136751C>A | CA481054370 | CEP290 | c.333G>T (p.Arg111=) n.560G>T c.231G>T (p.Arg77=) c.192G>T (p.Arg64=) n.677G>T | ClinVar dbSNP |
| 12 | g.88136751C>G | CA481054372 | CEP290 | c.333G>C (p.Arg111=) n.560G>C c.231G>C (p.Arg77=) c.192G>C (p.Arg64=) n.677G>C | |
| 12 | g.88136751C>T | CA481054371 | CEP290 | c.333G>A (p.Arg111=) n.560G>A c.231G>A (p.Arg77=) c.192G>A (p.Arg64=) n.677G>A | |
| 12 | g.88136752C>A | CA385987678 | CEP290 | c.332G>T (p.Arg111Leu) n.559G>T c.230G>T (p.Arg77Leu) c.191G>T (p.Arg64Leu) n.676G>T | |
| 12 | g.88136752C= | CA2052931498 | CEP290 | c.332G= (p.Arg111=) n.559G= c.230G= (p.Arg77=) c.191G= (p.Arg64=) n.676G= | |
| 12 | g.88136752C>G | CA385987680 | CEP290 | c.332G>C (p.Arg111Pro) n.559G>C c.230G>C (p.Arg77Pro) c.191G>C (p.Arg64Pro) n.676G>C | |
| 12 | g.88136752C>T | CA6712827 | CEP290 | c.332G>A (p.Arg111Gln) n.559G>A c.230G>A (p.Arg77Gln) c.191G>A (p.Arg64Gln) n.676G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.88136753G>A | CA241165275 | CEP290 | c.331C>T (p.Arg111Trp) n.558C>T c.229C>T (p.Arg77Trp) c.190C>T (p.Arg64Trp) n.675C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.88136753G>C | CA385987687 | CEP290 | c.331C>G (p.Arg111Gly) n.558C>G c.229C>G (p.Arg77Gly) c.190C>G (p.Arg64Gly) n.675C>G | |
| 12 | g.88136753G= | CA2052931510 | CEP290 | c.331C= (p.Arg111=) n.558C= c.229C= (p.Arg77=) c.190C= (p.Arg64=) n.675C= | |
| 12 | g.88136753G>T | CA481054374 | CEP290 | c.331C>A (p.Arg111=) n.558C>A c.229C>A (p.Arg77=) c.190C>A (p.Arg64=) n.675C>A | |
| 12 | g.88136754A>C | CA481054375 | CEP290 | c.330T>G (p.Thr110=) n.557T>G c.228T>G (p.Thr76=) c.189T>G (p.Thr63=) n.674T>G | |
| 12 | g.88136754A>G | CA481054377 | CEP290 | c.330T>C (p.Thr110=) n.557T>C c.228T>C (p.Thr76=) c.189T>C (p.Thr63=) n.674T>C | |
| 12 | g.88136754A>T | CA481054378 | CEP290 | c.330T>A (p.Thr110=) n.557T>A c.228T>A (p.Thr76=) c.189T>A (p.Thr63=) n.674T>A | |
| 12 | g.88136754_88136755insTTGCT | CA2572758562 | CEP290 | c.329_330insAGCAA (p.Arg111AlafsTer16) n.556_557insAGCAA c.227_228insAGCAA (p.Arg77AlafsTer16) c.188_189insAGCAA (p.Arg64AlafsTer16) n.673_674insAGCAA | |
| 12 | g.88136755G>A | CA6712828 | CEP290 | c.329C>T (p.Thr110Ile) n.556C>T c.227C>T (p.Thr76Ile) c.188C>T (p.Thr63Ile) n.673C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.88136755G>C | CA385987689 | CEP290 | c.329C>G (p.Thr110Ser) n.556C>G c.227C>G (p.Thr76Ser) c.188C>G (p.Thr63Ser) n.673C>G | |
| 12 | g.88136755G= | CA2052931520 | CEP290 | c.329C= (p.Thr110=) n.556C= c.227C= (p.Thr76=) c.188C= (p.Thr63=) n.673C= | |
| 12 | g.88136755G>T | CA385987691 | CEP290 | c.329C>A (p.Thr110Asn) n.556C>A c.227C>A (p.Thr76Asn) c.188C>A (p.Thr63Asn) n.673C>A | |
| 12 | g.88136756T>A | CA385987693 | CEP290 | c.328A>T (p.Thr110Ser) n.555A>T c.226A>T (p.Thr76Ser) c.187A>T (p.Thr63Ser) n.672A>T | |
| 12 | g.88136756T>C | CA385987696 | CEP290 | c.328A>G (p.Thr110Ala) n.555A>G c.226A>G (p.Thr76Ala) c.187A>G (p.Thr63Ala) n.672A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |