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.63721126C>A | CA364383708 | EYS,PHF3 | c.*7418C>A (n.*7418C>A) c.8905G>T (p.Asp2969Tyr) c.8968G>T (p.Asp2990Tyr) c.363+9764C>A | |
| 6 | g.63721126C>G | CA364383709 | EYS,PHF3 | c.*7418C>G (n.*7418C>G) c.8905G>C (p.Asp2969His) c.8968G>C (p.Asp2990His) c.363+9764C>G | |
| 6 | g.63721126C>T | CA364383707 | EYS,PHF3 | c.*7418C>T (n.*7418C>T) c.8905G>A (p.Asp2969Asn) c.8968G>A (p.Asp2990Asn) c.363+9764C>T | gnomAD v4 |
| 6 | g.63721127A>C | CA364383710 | EYS,PHF3 | c.*7419A>C (n.*7419A>C) c.8904T>G (p.Ile2968Met) c.8967T>G (p.Ile2989Met) c.363+9765A>C | |
| 6 | g.63721127A>G | CA450862148 | EYS,PHF3 | c.*7419A>G (n.*7419A>G) c.8904T>C (p.Ile2968=) c.8967T>C (p.Ile2989=) c.363+9765A>G | |
| 6 | g.63721127A>T | CA450862149 | EYS,PHF3 | c.*7419A>T (n.*7419A>T) c.8904T>A (p.Ile2968=) c.8967T>A (p.Ile2989=) c.363+9765A>T | |
| 6 | g.63721128A= | CA1633381492 | EYS,PHF3 | c.*7420A= (n.*7420A=) c.8903T= (p.Ile2968=) c.8966T= (p.Ile2989=) c.363+9766A= | |
| 6 | g.63721128A>C | CA364383711 | EYS,PHF3 | c.*7420A>C (n.*7420A>C) c.8903T>G (p.Ile2968Ser) c.8966T>G (p.Ile2989Ser) c.363+9766A>C | |
| 6 | g.63721128A>G | CA364383712 | EYS,PHF3 | c.*7420A>G (n.*7420A>G) c.8903T>C (p.Ile2968Thr) c.8966T>C (p.Ile2989Thr) c.363+9766A>G | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63721128A>T | CA364383713 | EYS,PHF3 | c.*7420A>T (n.*7420A>T) c.8903T>A (p.Ile2968Asn) c.8966T>A (p.Ile2989Asn) c.363+9766A>T | gnomAD v4 |
| 6 | g.63721129T>A | CA364383714 | EYS,PHF3 | c.*7421T>A (n.*7421T>A) c.8902A>T (p.Ile2968Phe) c.8965A>T (p.Ile2989Phe) c.363+9767T>A | |
| 6 | g.63721129T>C | CA364383715 | EYS,PHF3 | c.*7421T>C (n.*7421T>C) c.8902A>G (p.Ile2968Val) c.8965A>G (p.Ile2989Val) c.363+9767T>C | |
| 6 | g.63721129T>G | CA364383716 | EYS,PHF3 | c.*7421T>G (n.*7421T>G) c.8902A>C (p.Ile2968Leu) c.8965A>C (p.Ile2989Leu) c.363+9767T>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63721129T= | CA1633381495 | EYS,PHF3 | c.*7421T= (n.*7421T=) c.8902A= (p.Ile2968=) c.8965A= (p.Ile2989=) c.363+9767T= | |
| 6 | g.63721130G>A | CA450862154 | EYS,PHF3 | c.*7422G>A (n.*7422G>A) c.8901C>T (p.Tyr2967=) c.8964C>T (p.Tyr2988=) c.363+9768G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63721130G>C | CA364383717 | EYS,PHF3 | c.*7422G>C (n.*7422G>C) c.8901C>G (p.Tyr2967Ter) c.8964C>G (p.Tyr2988Ter) c.363+9768G>C | |
| 6 | g.63721130G= | CA1633381502 | EYS,PHF3 | c.*7422G= (n.*7422G=) c.8901C= (p.Tyr2967=) c.8964C= (p.Tyr2988=) c.363+9768G= | |
| 6 | g.63721130G>T | CA364383718 | EYS,PHF3 | c.*7422G>T (n.*7422G>T) c.8901C>A (p.Tyr2967Ter) c.8964C>A (p.Tyr2988Ter) c.363+9768G>T | |
| 6 | g.63721131T>A | CA364383719 | EYS,PHF3 | c.*7423T>A (n.*7423T>A) c.8900A>T (p.Tyr2967Phe) c.8963A>T (p.Tyr2988Phe) c.363+9769T>A | |
| 6 | g.63721131T>C | CA364383720 | EYS,PHF3 | c.*7423T>C (n.*7423T>C) c.8900A>G (p.Tyr2967Cys) c.8963A>G (p.Tyr2988Cys) c.363+9769T>C | gnomAD v4 |
| 6 | g.63721131T>G | CA364383721 | EYS,PHF3 | c.*7423T>G (n.*7423T>G) c.8900A>C (p.Tyr2967Ser) c.8963A>C (p.Tyr2988Ser) c.363+9769T>G | |
| 6 | g.63721132A= | CA1633381505 | EYS,PHF3 | c.*7424A= (n.*7424A=) c.8899T= (p.Tyr2967=) c.8962T= (p.Tyr2988=) c.363+9770A= | |
| 6 | g.63721132A>C | CA364383723 | EYS,PHF3 | c.*7424A>C (n.*7424A>C) c.8899T>G (p.Tyr2967Asp) c.8962T>G (p.Tyr2988Asp) c.363+9770A>C | |
| 6 | g.63721132A>G | CA3876684 | EYS,PHF3 | c.*7424A>G (n.*7424A>G) c.8899T>C (p.Tyr2967His) c.8962T>C (p.Tyr2988His) c.363+9770A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63721132A>T | CA364383722 | EYS,PHF3 | c.*7424A>T (n.*7424A>T) c.8899T>A (p.Tyr2967Asn) c.8962T>A (p.Tyr2988Asn) c.363+9770A>T | |
| 6 | g.63721133T>A | CA364383724 | EYS,PHF3 | c.*7425T>A (n.*7425T>A) c.8898A>T (p.Lys2966Asn) c.8961A>T (p.Lys2987Asn) c.363+9771T>A | |
| 6 | g.63721133T>C | CA450862158 | EYS,PHF3 | c.*7425T>C (n.*7425T>C) c.8898A>G (p.Lys2966=) c.8961A>G (p.Lys2987=) c.363+9771T>C | gnomAD v4 |
| 6 | g.63721133T>G | CA364383725 | EYS,PHF3 | c.*7425T>G (n.*7425T>G) c.8898A>C (p.Lys2966Asn) c.8961A>C (p.Lys2987Asn) c.363+9771T>G | |
| 6 | g.63721135del | CA2679279881 | EYS,PHF3 | c.*7427del (n.*7427del) c.8898del (p.Lys2966AsnfsTer9) c.8961del (p.Lys2987AsnfsTer9) c.363+9773del | gnomAD v4 |
| 6 | g.63721134T>A | CA364383726 | EYS,PHF3 | c.*7426T>A (n.*7426T>A) c.8897A>T (p.Lys2966Ile) c.8960A>T (p.Lys2987Ile) c.363+9772T>A | |
| 6 | g.63721134T>C | CA364383727 | EYS,PHF3 | c.*7426T>C (n.*7426T>C) c.8897A>G (p.Lys2966Arg) c.8960A>G (p.Lys2987Arg) c.363+9772T>C | |
| 6 | g.63721134T>G | CA364383728 | EYS,PHF3 | c.*7426T>G (n.*7426T>G) c.8897A>C (p.Lys2966Thr) c.8960A>C (p.Lys2987Thr) c.363+9772T>G | |
| 6 | g.63721134_63721139delinsTTAATG | CA1633381509 | EYS,PHF3 | c.*7426_*7431delinsTTAATG (n.*7426_*7431delinsTTAATG) c.8892_8897delinsCATTAA (p.Tyr2964=) c.8955_8960delinsCATTAA (p.Tyr2985=) c.363+9772_363+9777delinsTTAATG | |
| 6 | g.63721135T>A | CA364383729 | EYS,PHF3 | c.*7427T>A (n.*7427T>A) c.8896A>T (p.Lys2966Ter) c.8959A>T (p.Lys2987Ter) c.363+9773T>A | |
| 6 | g.63721135T>C | CA364383730 | EYS,PHF3 | c.*7427T>C (n.*7427T>C) c.8896A>G (p.Lys2966Glu) c.8959A>G (p.Lys2987Glu) c.363+9773T>C | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63721135T>G | CA364383731 | EYS,PHF3 | c.*7427T>G (n.*7427T>G) c.8896A>C (p.Lys2966Gln) c.8959A>C (p.Lys2987Gln) c.363+9773T>G | |
| 6 | g.63721135T= | CA1633381512 | EYS,PHF3 | c.*7427T= (n.*7427T=) c.8896A= (p.Lys2966=) c.8959A= (p.Lys2987=) c.363+9773T= | |
| 6 | g.63721138_63721142del | CA916082854 | EYS,PHF3 | c.*7430_*7434del (n.*7430_*7434del) c.8892_8896del (p.Tyr2964Ter) c.8955_8959del (p.Tyr2985Ter) c.363+9776_363+9780del | ClinVar dbSNP |
| 6 | g.63721136A= | CA1633381516 | EYS,PHF3 | c.*7428A= (n.*7428A=) c.8895T= (p.Ile2965=) c.8958T= (p.Ile2986=) c.363+9774A= | |
| 6 | g.63721136A>C | CA364383732 | EYS,PHF3 | c.*7428A>C (n.*7428A>C) c.8895T>G (p.Ile2965Met) c.8958T>G (p.Ile2986Met) c.363+9774A>C | |
| 6 | g.63721136A>G | CA450862162 | EYS,PHF3 | c.*7428A>G (n.*7428A>G) c.8895T>C (p.Ile2965=) c.8958T>C (p.Ile2986=) c.363+9774A>G | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63721136A>T | CA450862161 | EYS,PHF3 | c.*7428A>T (n.*7428A>T) c.8895T>A (p.Ile2965=) c.8958T>A (p.Ile2986=) c.363+9774A>T | |
| 6 | g.63721136_63721137del | CA2679279882 | EYS,PHF3 | c.*7428_*7429del (n.*7428_*7429del) c.8894_8895del (p.Ile2965LysfsTer4) c.8957_8958del (p.Ile2986LysfsTer4) c.363+9774_363+9775del | gnomAD v4 |
| 6 | g.63721137A>C | CA364383733 | EYS,PHF3 | c.*7429A>C (n.*7429A>C) c.8894T>G (p.Ile2965Ser) c.8957T>G (p.Ile2986Ser) c.363+9775A>C | |
| 6 | g.63721137A>G | CA364383734 | EYS,PHF3 | c.*7429A>G (n.*7429A>G) c.8894T>C (p.Ile2965Thr) c.8957T>C (p.Ile2986Thr) c.363+9775A>G | |
| 6 | g.63721137A>T | CA364383735 | EYS,PHF3 | c.*7429A>T (n.*7429A>T) c.8894T>A (p.Ile2965Asn) c.8957T>A (p.Ile2986Asn) c.363+9775A>T | |
| 6 | g.63721138T>A | CA364383736 | EYS,PHF3 | c.*7430T>A (n.*7430T>A) c.8893A>T (p.Ile2965Phe) c.8956A>T (p.Ile2986Phe) c.363+9776T>A | |
| 6 | g.63721138T>C | CA364383738 | EYS,PHF3 | c.*7430T>C (n.*7430T>C) c.8893A>G (p.Ile2965Val) c.8956A>G (p.Ile2986Val) c.363+9776T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63721138T>G | CA364383737 | EYS,PHF3 | c.*7430T>G (n.*7430T>G) c.8893A>C (p.Ile2965Leu) c.8956A>C (p.Ile2986Leu) c.363+9776T>G | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63721138T= | CA1633381520 | EYS,PHF3 | c.*7430T= (n.*7430T=) c.8893A= (p.Ile2965=) c.8956A= (p.Ile2986=) c.363+9776T= |