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 |
|---|---|---|---|---|---|
| 6 | g.63720626A= | CA1633380565 | EYS,PHF3 | c.*6918A= (n.*6918A=) c.9405T= (p.Tyr3135=) c.9468T= (p.Tyr3156=) c.363+9264A= | |
| 6 | g.63720626A>C | CA364382551 | EYS,PHF3 | c.*6918A>C (n.*6918A>C) c.9405T>G (p.Tyr3135Ter) c.9468T>G (p.Tyr3156Ter) c.363+9264A>C | |
| 6 | g.63720626A>G | CA450861711 | EYS,PHF3 | c.*6918A>G (n.*6918A>G) c.9405T>C (p.Tyr3135=) c.9468T>C (p.Tyr3156=) c.363+9264A>G | ClinVar dbSNP gnomAD v4 |
| 6 | g.63720626A>T | CA251493 | EYS,PHF3 | c.*6918A>T (n.*6918A>T) c.9405T>A (p.Tyr3135Ter) c.9468T>A (p.Tyr3156Ter) c.363+9264A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.[63720626A>T;64591961G>T] | CA658832941 | EYS | c.[3906C>A;9405T>A] (p.[His1302Gln;Tyr3135Ter]) c.[3906C>A;9468T>A] (p.[His1302Gln;Tyr3156Ter]) | ClinVar |
| 6 | g.63720627T>A | CA364382554 | EYS,PHF3 | c.*6919T>A (n.*6919T>A) c.9404A>T (p.Tyr3135Phe) c.9467A>T (p.Tyr3156Phe) c.363+9265T>A | |
| 6 | g.63720627T>C | CA364382553 | EYS,PHF3 | c.*6919T>C (n.*6919T>C) c.9404A>G (p.Tyr3135Cys) c.9467A>G (p.Tyr3156Cys) c.363+9265T>C | |
| 6 | g.63720627T>G | CA364382552 | EYS,PHF3 | c.*6919T>G (n.*6919T>G) c.9404A>C (p.Tyr3135Ser) c.9467A>C (p.Tyr3156Ser) c.363+9265T>G | |
| 6 | g.63720628A>C | CA364382555 | EYS,PHF3 | c.*6920A>C (n.*6920A>C) c.9403T>G (p.Tyr3135Asp) c.9466T>G (p.Tyr3156Asp) c.363+9266A>C | |
| 6 | g.63720628A>G | CA364382556 | EYS,PHF3 | c.*6920A>G (n.*6920A>G) c.9403T>C (p.Tyr3135His) c.9466T>C (p.Tyr3156His) c.363+9266A>G | ClinVar |
| 6 | g.63720628A>T | CA364382557 | EYS,PHF3 | c.*6920A>T (n.*6920A>T) c.9403T>A (p.Tyr3135Asn) c.9466T>A (p.Tyr3156Asn) c.363+9266A>T | |
| 6 | g.63720629A>C | CA450861718 | EYS,PHF3 | c.*6921A>C (n.*6921A>C) c.9402T>G (p.Val3134=) c.9465T>G (p.Val3155=) c.363+9267A>C | |
| 6 | g.63720629A>G | CA450861720 | EYS,PHF3 | c.*6921A>G (n.*6921A>G) c.9402T>C (p.Val3134=) c.9465T>C (p.Val3155=) c.363+9267A>G | |
| 6 | g.63720629A>T | CA450861722 | EYS,PHF3 | c.*6921A>T (n.*6921A>T) c.9402T>A (p.Val3134=) c.9465T>A (p.Val3155=) c.363+9267A>T | |
| 6 | g.63720630A>C | CA364382558 | EYS,PHF3 | c.*6922A>C (n.*6922A>C) c.9401T>G (p.Val3134Gly) c.9464T>G (p.Val3155Gly) c.363+9268A>C | |
| 6 | g.63720630A>G | CA364382559 | EYS,PHF3 | c.*6922A>G (n.*6922A>G) c.9401T>C (p.Val3134Ala) c.9464T>C (p.Val3155Ala) c.363+9268A>G | ClinVar dbSNP gnomAD v4 |
| 6 | g.63720630A>T | CA364382560 | EYS,PHF3 | c.*6922A>T (n.*6922A>T) c.9401T>A (p.Val3134Asp) c.9464T>A (p.Val3155Asp) c.363+9268A>T | |
| 6 | g.63720630_63720631delinsAC | CA1633380574 | EYS,PHF3 | c.*6922_*6923delinsAC (n.*6922_*6923delinsAC) c.9400_9401delinsGT (p.Val3134=) c.9463_9464delinsGT (p.Val3155=) c.363+9268_363+9269delinsAC | |
| 6 | g.63720631del | CA10604476 | EYS,PHF3 | c.*6923del (n.*6923del) c.9400del (p.Val3134PhefsTer?) c.9463del (p.Val3155PhefsTer?) c.363+9269del | ClinVar dbSNP gnomAD v4 |
| 6 | g.63720631C>A | CA364382561 | EYS,PHF3 | c.*6923C>A (n.*6923C>A) c.9400G>T (p.Val3134Phe) c.9463G>T (p.Val3155Phe) c.363+9269C>A | |
| 6 | g.63720631C>G | CA364382563 | EYS,PHF3 | c.*6923C>G (n.*6923C>G) c.9400G>C (p.Val3134Leu) c.9463G>C (p.Val3155Leu) c.363+9269C>G | |
| 6 | g.63720631C>T | CA364382562 | EYS,PHF3 | c.*6923C>T (n.*6923C>T) c.9400G>A (p.Val3134Ile) c.9463G>A (p.Val3155Ile) c.363+9269C>T | gnomAD v4 |
| 6 | g.63720631_63720651delinsCATTGTATCCTTCTAATTTAA | CA1633380581 | EYS,PHF3 | c.*6923_*6943delinsCATTGTATCCTTCTAATTTAA (n.*6923_*6943delinsCATTGTATCCTTCTAATTTAA) c.9380_9400delinsTTAAATTAGAAGGATACAATG (p.Ile3127=) c.9443_9463delinsTTAAATTAGAAGGATACAATG (p.Ile3148=) c.363+9269_363+9289delinsCATTGTATCCTTCTAATTTAA | |
| 6 | g.63720632del | CA2739273148 | EYS,PHF3 | c.*6924del (n.*6924del) c.9399del (p.Asn3133LysfsTer?) c.9462del (p.Asn3154LysfsTer?) c.363+9270del | ClinVar |
| 6 | g.63720632A>C | CA364382564 | EYS,PHF3 | c.*6924A>C (n.*6924A>C) c.9399T>G (p.Asn3133Lys) c.9462T>G (p.Asn3154Lys) c.363+9270A>C | |
| 6 | g.63720632A>G | CA450861726 | EYS,PHF3 | c.*6924A>G (n.*6924A>G) c.9399T>C (p.Asn3133=) c.9462T>C (p.Asn3154=) c.363+9270A>G | ClinVar dbSNP gnomAD v4 |
| 6 | g.63720632A>T | CA364382565 | EYS,PHF3 | c.*6924A>T (n.*6924A>T) c.9399T>A (p.Asn3133Lys) c.9462T>A (p.Asn3154Lys) c.363+9270A>T | |
| 6 | g.63720632_63720634dup | CA2679279862 | EYS,PHF3 | c.*6924_*6926dup (n.*6924_*6926dup) c.9397_9399dup (p.Asn3133_Val3134insAsn) c.9460_9462dup (p.Asn3154_Val3155insAsn) c.363+9270_363+9272dup | gnomAD v4 |
| 6 | g.63720632_63720651del | CA915944315 | EYS,PHF3 | c.*6924_*6943del (n.*6924_*6943del) c.9380_9399del (p.Ile3127SerfsTer3) c.9443_9462del (p.Ile3148SerfsTer3) c.363+9270_363+9289del | ClinVar dbSNP |
| 6 | g.63720633T>A | CA364382566 | EYS,PHF3 | c.*6925T>A (n.*6925T>A) c.9398A>T (p.Asn3133Ile) c.9461A>T (p.Asn3154Ile) c.363+9271T>A | |
| 6 | g.63720633T>C | CA364382567 | EYS,PHF3 | c.*6925T>C (n.*6925T>C) c.9398A>G (p.Asn3133Ser) c.9461A>G (p.Asn3154Ser) c.363+9271T>C | gnomAD v4 |
| 6 | g.63720633T>G | CA364382568 | EYS,PHF3 | c.*6925T>G (n.*6925T>G) c.9398A>C (p.Asn3133Thr) c.9461A>C (p.Asn3154Thr) c.363+9271T>G | |
| 6 | g.63720633_63720634dup | CA2695206625 | EYS,PHF3 | c.*6925_*6926dup (n.*6925_*6926dup) c.9397_9398dup (p.Asn3133LysfsTer?) c.9460_9461dup (p.Asn3154LysfsTer?) c.363+9271_363+9272dup | ClinVar |
| 6 | g.63720634T>A | CA364382569 | EYS,PHF3 | c.*6926T>A (n.*6926T>A) c.9397A>T (p.Asn3133Tyr) c.9460A>T (p.Asn3154Tyr) c.363+9272T>A | |
| 6 | g.63720634T>C | CA364382570 | EYS,PHF3 | c.*6926T>C (n.*6926T>C) c.9397A>G (p.Asn3133Asp) c.9460A>G (p.Asn3154Asp) c.363+9272T>C | |
| 6 | g.63720634T>G | CA364382571 | EYS,PHF3 | c.*6926T>G (n.*6926T>G) c.9397A>C (p.Asn3133His) c.9460A>C (p.Asn3154His) c.363+9272T>G | |
| 6 | g.63720635G>A | CA450861728 | EYS,PHF3 | c.*6927G>A (n.*6927G>A) c.9396C>T (p.Tyr3132=) c.9459C>T (p.Tyr3153=) c.363+9273G>A | ClinVar dbSNP gnomAD v4 |
| 6 | g.63720635G>C | CA364382572 | EYS,PHF3 | c.*6927G>C (n.*6927G>C) c.9396C>G (p.Tyr3132Ter) c.9459C>G (p.Tyr3153Ter) c.363+9273G>C | |
| 6 | g.63720635G>T | CA364382573 | EYS,PHF3 | c.*6927G>T (n.*6927G>T) c.9396C>A (p.Tyr3132Ter) c.9459C>A (p.Tyr3153Ter) c.363+9273G>T | |
| 6 | g.63720636T>A | CA364382575 | EYS,PHF3 | c.*6928T>A (n.*6928T>A) c.9395A>T (p.Tyr3132Phe) c.9458A>T (p.Tyr3153Phe) c.363+9274T>A | |
| 6 | g.63720636T>C | CA364382576 | EYS,PHF3 | c.*6928T>C (n.*6928T>C) c.9395A>G (p.Tyr3132Cys) c.9458A>G (p.Tyr3153Cys) c.363+9274T>C | |
| 6 | g.63720636T>G | CA364382574 | EYS,PHF3 | c.*6928T>G (n.*6928T>G) c.9395A>C (p.Tyr3132Ser) c.9458A>C (p.Tyr3153Ser) c.363+9274T>G | |
| 6 | g.63720637A>C | CA364382578 | EYS,PHF3 | c.*6929A>C (n.*6929A>C) c.9394T>G (p.Tyr3132Asp) c.9457T>G (p.Tyr3153Asp) c.363+9275A>C | |
| 6 | g.63720637A>G | CA364382577 | EYS,PHF3 | c.*6929A>G (n.*6929A>G) c.9394T>C (p.Tyr3132His) c.9457T>C (p.Tyr3153His) c.363+9275A>G | COSMIC |
| 6 | g.63720637A>T | CA364382579 | EYS,PHF3 | c.*6929A>T (n.*6929A>T) c.9394T>A (p.Tyr3132Asn) c.9457T>A (p.Tyr3153Asn) c.363+9275A>T | |
| 6 | g.63720638T>A | CA450861736 | EYS,PHF3 | c.*6930T>A (n.*6930T>A) c.9393A>T (p.Gly3131=) c.9456A>T (p.Gly3152=) c.363+9276T>A | gnomAD v4 |
| 6 | g.63720638T>C | CA450861737 | EYS,PHF3 | c.*6930T>C (n.*6930T>C) c.9393A>G (p.Gly3131=) c.9456A>G (p.Gly3152=) c.363+9276T>C | |
| 6 | g.63720638T>G | CA450861738 | EYS,PHF3 | c.*6930T>G (n.*6930T>G) c.9393A>C (p.Gly3131=) c.9456A>C (p.Gly3152=) c.363+9276T>G | COSMIC |
| 6 | g.63720639C>A | CA364382580 | EYS,PHF3 | c.*6931C>A (n.*6931C>A) c.9392G>T (p.Gly3131Val) c.9455G>T (p.Gly3152Val) c.363+9277C>A | |
| 6 | g.63720639C= | CA1633380590 | EYS,PHF3 | c.*6931C= (n.*6931C=) c.9392G= (p.Gly3131=) c.9455G= (p.Gly3152=) c.363+9277C= |