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.88136700_88136703del | CA144396 | CEP290 | c.384_387del (p.Asp128GlufsTer?) c.384_387del (p.Asp128GlufsTer23) c.384_387del (p.Asp128GlufsTer20) n.611_614del c.282_285del (p.Asp94GlufsTer?) c.243_246del (p.Asp81GlufsTer20) n.728_731del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.88136700_88136702delinsATC | CA2052931315 | CEP290 | c.382_384delinsGAT (p.Asp128=) n.609_611delinsGAT c.280_282delinsGAT (p.Asp94=) c.241_243delinsGAT (p.Asp81=) n.726_728delinsGAT | |
| 12 | g.88136701_88136703delinsTCT | CA2052931325 | CEP290 | c.381_383delinsAGA (p.Lys127=) n.608_610delinsAGA c.279_281delinsAGA (p.Lys93=) c.240_242delinsAGA (p.Lys80=) n.725_727delinsAGA | |
| 12 | g.88136702_88136703del | CA241165144 | CEP290 | c.382_383del (p.Asp128Ter) n.609_610del c.280_281del (p.Asp94Ter) c.241_242del (p.Asp81Ter) n.726_727del | dbSNP |
| 12 | g.88136702C>A | CA385987399 | CEP290 | c.382G>T (p.Asp128Tyr) n.609G>T c.280G>T (p.Asp94Tyr) c.241G>T (p.Asp81Tyr) n.726G>T | ClinVar dbSNP COSMIC |
| 12 | g.88136702C= | CA2052931338 | CEP290 | c.382G= (p.Asp128=) n.609G= c.280G= (p.Asp94=) c.241G= (p.Asp81=) n.726G= | |
| 12 | g.88136702C>G | CA6712817 | CEP290 | c.382G>C (p.Asp128His) n.609G>C c.280G>C (p.Asp94His) c.241G>C (p.Asp81His) n.726G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.88136702C>T | CA385987396 | CEP290 | c.382G>A (p.Asp128Asn) n.609G>A c.280G>A (p.Asp94Asn) c.241G>A (p.Asp81Asn) n.726G>A | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.88136702_88136703delinsA | CA144395 | CEP290 | c.381_382delinsT (p.Lys127AsnfsTer?) c.381_382delinsT (p.Lys127AsnfsTer25) c.381_382delinsT (p.Lys127AsnfsTer22) n.608_609delinsT c.279_280delinsT (p.Lys93AsnfsTer?) c.240_241delinsT (p.Lys80AsnfsTer22) n.725_726delinsT | ClinVar dbSNP |
| 12 | g.88136702_88136703delinsCT | CA2052931345 | CEP290 | c.381_382delinsAG (p.Lys127=) n.608_609delinsAG c.279_280delinsAG (p.Lys93=) c.240_241delinsAG (p.Lys80=) n.725_726delinsAG | |
| 12 | g.88136703T>A | CA385987402 | CEP290 | c.381A>T (p.Lys127Asn) n.608A>T c.279A>T (p.Lys93Asn) c.240A>T (p.Lys80Asn) n.725A>T | |
| 12 | g.88136703T>C | CA481054314 | CEP290 | c.381A>G (p.Lys127=) n.608A>G c.279A>G (p.Lys93=) c.240A>G (p.Lys80=) n.725A>G | |
| 12 | g.88136703T>G | CA385987404 | CEP290 | c.381A>C (p.Lys127Asn) n.608A>C c.279A>C (p.Lys93Asn) c.240A>C (p.Lys80Asn) n.725A>C | gnomAD v4 |
| 12 | g.88136707del | CA693103051 | CEP290 | c.381del (p.Asp128IlefsTer?) c.381del (p.Asp128IlefsTer24) c.381del (p.Asp128IlefsTer21) n.608del c.279del (p.Asp94IlefsTer?) c.240del (p.Asp81IlefsTer21) n.725del | ClinVar dbSNP gnomAD v4 |
| 12 | g.88136706_88136707del | CA2695217120 | CEP290 | c.380_381del (p.Lys127ArgfsTer2) n.607_608del c.278_279del (p.Lys93ArgfsTer2) c.239_240del (p.Lys80ArgfsTer2) n.724_725del | |
| 12 | g.88136704T>A | CA385987406 | CEP290 | c.380A>T (p.Lys127Ile) n.607A>T c.278A>T (p.Lys93Ile) c.239A>T (p.Lys80Ile) n.724A>T | |
| 12 | g.88136704T>C | CA385987408 | CEP290 | c.380A>G (p.Lys127Arg) n.607A>G c.278A>G (p.Lys93Arg) c.239A>G (p.Lys80Arg) n.724A>G | |
| 12 | g.88136704T>G | CA385987410 | CEP290 | c.380A>C (p.Lys127Thr) n.607A>C c.278A>C (p.Lys93Thr) c.239A>C (p.Lys80Thr) n.724A>C | |
| 12 | g.88136705T>A | CA385987413 | CEP290 | c.379A>T (p.Lys127Ter) n.606A>T c.277A>T (p.Lys93Ter) c.238A>T (p.Lys80Ter) n.723A>T | |
| 12 | g.88136705T>C | CA385987415 | CEP290 | c.379A>G (p.Lys127Glu) n.606A>G c.277A>G (p.Lys93Glu) c.238A>G (p.Lys80Glu) n.723A>G | dbSNP gnomAD v2 |
| 12 | g.88136705T>G | CA6712818 | CEP290 | c.379A>C (p.Lys127Gln) n.606A>C c.277A>C (p.Lys93Gln) c.238A>C (p.Lys80Gln) n.723A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.88136705T= | CA2052931360 | CEP290 | c.379A= (p.Lys127=) n.606A= c.277A= (p.Lys93=) c.238A= (p.Lys80=) n.723A= | |
| 12 | g.88136706T>A | CA385987419 | CEP290 | c.378A>T (p.Gln126His) n.605A>T c.276A>T (p.Gln92His) c.237A>T (p.Gln79His) n.722A>T | |
| 12 | g.88136706T>C | CA481054315 | CEP290 | c.378A>G (p.Gln126=) n.605A>G c.276A>G (p.Gln92=) c.237A>G (p.Gln79=) n.722A>G | gnomAD v4 |
| 12 | g.88136706T>G | CA385987421 | CEP290 | c.378A>C (p.Gln126His) n.605A>C c.276A>C (p.Gln92His) c.237A>C (p.Gln79His) n.722A>C | |
| 12 | g.88136707T>A | CA6712819 | CEP290 | c.377A>T (p.Gln126Leu) n.604A>T c.275A>T (p.Gln92Leu) c.236A>T (p.Gln79Leu) n.721A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.88136707T>C | CA385987428 | CEP290 | c.377A>G (p.Gln126Arg) n.604A>G c.275A>G (p.Gln92Arg) c.236A>G (p.Gln79Arg) n.721A>G | |
| 12 | g.88136707T>G | CA385987423 | CEP290 | c.377A>C (p.Gln126Pro) n.604A>C c.275A>C (p.Gln92Pro) c.236A>C (p.Gln79Pro) n.721A>C | gnomAD v4 |
| 12 | g.88136707T= | CA2052931369 | CEP290 | c.377A= (p.Gln126=) n.604A= c.275A= (p.Gln92=) c.236A= (p.Gln79=) n.721A= | |
| 12 | g.88136708G>A | CA385987434 | CEP290 | c.376C>T (p.Gln126Ter) n.603C>T c.274C>T (p.Gln92Ter) c.235C>T (p.Gln79Ter) n.720C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.88136708G>C | CA385987436 | CEP290 | c.376C>G (p.Gln126Glu) n.603C>G c.274C>G (p.Gln92Glu) c.235C>G (p.Gln79Glu) n.720C>G | dbSNP gnomAD v4 |
| 12 | g.88136708G= | CA2052931374 | CEP290 | c.376C= (p.Gln126=) n.603C= c.274C= (p.Gln92=) c.235C= (p.Gln79=) n.720C= | |
| 12 | g.88136708G>T | CA385987437 | CEP290 | c.376C>A (p.Gln126Lys) n.603C>A c.274C>A (p.Gln92Lys) c.235C>A (p.Gln79Lys) n.720C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.88136709T>A | CA385987438 | CEP290 | c.375A>T (p.Glu125Asp) n.602A>T c.273A>T (p.Glu91Asp) c.234A>T (p.Glu78Asp) n.719A>T | |
| 12 | g.88136709T>C | CA481054317 | CEP290 | c.375A>G (p.Glu125=) n.602A>G c.273A>G (p.Glu91=) c.234A>G (p.Glu78=) n.719A>G | |
| 12 | g.88136709T>G | CA385987440 | CEP290 | c.375A>C (p.Glu125Asp) n.602A>C c.273A>C (p.Glu91Asp) c.234A>C (p.Glu78Asp) n.719A>C | |
| 12 | g.88136710T>A | CA385987443 | CEP290 | c.374A>T (p.Glu125Val) n.601A>T c.272A>T (p.Glu91Val) c.233A>T (p.Glu78Val) n.718A>T | |
| 12 | g.88136710T>C | CA385987445 | CEP290 | c.374A>G (p.Glu125Gly) n.601A>G c.272A>G (p.Glu91Gly) c.233A>G (p.Glu78Gly) n.718A>G | |
| 12 | g.88136710T>G | CA385987447 | CEP290 | c.374A>C (p.Glu125Ala) n.601A>C c.272A>C (p.Glu91Ala) c.233A>C (p.Glu78Ala) n.718A>C | dbSNP |
| 12 | g.88136710T= | CA2052931381 | CEP290 | c.374A= (p.Glu125=) n.601A= c.272A= (p.Glu91=) c.233A= (p.Glu78=) n.718A= | |
| 12 | g.88136711C>A | CA385987450 | CEP290 | c.373G>T (p.Glu125Ter) n.600G>T c.271G>T (p.Glu91Ter) c.232G>T (p.Glu78Ter) n.717G>T | ClinVar dbSNP |
| 12 | g.88136711C= | CA2052931389 | CEP290 | c.373G= (p.Glu125=) n.600G= c.271G= (p.Glu91=) c.232G= (p.Glu78=) n.717G= | |
| 12 | g.88136711C>G | CA385987452 | CEP290 | c.373G>C (p.Glu125Gln) n.600G>C c.271G>C (p.Glu91Gln) c.232G>C (p.Glu78Gln) n.717G>C | |
| 12 | g.88136711C>T | CA385987454 | CEP290 | c.373G>A (p.Glu125Lys) n.600G>A c.271G>A (p.Glu91Lys) c.232G>A (p.Glu78Lys) n.717G>A | ClinVar gnomAD v4 |
| 12 | g.88136712T>A | CA385987455 | CEP290 | c.372A>T (p.Leu124Phe) n.599A>T c.270A>T (p.Leu90Phe) c.231A>T (p.Leu77Phe) n.716A>T | |
| 12 | g.88136712T>C | CA481054322 | CEP290 | c.372A>G (p.Leu124=) n.599A>G c.270A>G (p.Leu90=) c.231A>G (p.Leu77=) n.716A>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.88136712T>G | CA385987457 | CEP290 | c.372A>C (p.Leu124Phe) n.599A>C c.270A>C (p.Leu90Phe) c.231A>C (p.Leu77Phe) n.716A>C | |
| 12 | g.88136712T= | CA2052931397 | CEP290 | c.372A= (p.Leu124=) n.599A= c.270A= (p.Leu90=) c.231A= (p.Leu77=) n.716A= | |
| 12 | g.88136713A= | CA2052931400 | CEP290 | c.371T= (p.Leu124=) n.598T= c.269T= (p.Leu90=) c.230T= (p.Leu77=) n.715T= | |
| 12 | g.88136713A>C | CA385987460 | CEP290 | c.371T>G (p.Leu124Ter) n.598T>G c.269T>G (p.Leu90Ter) c.230T>G (p.Leu77Ter) n.715T>G |