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 |
|---|---|---|---|---|---|
| X | g.46853764dup | CA2695233385 | RP2 | c.391dup (p.Cys131LeufsTer8) | |
| X | g.46853764T>A | CA413039581 | RP2 | c.391T>A (p.Cys131Ser) | |
| X | g.46853764T>C | CA413039582 | RP2 | c.391T>C (p.Cys131Arg) | dbSNP COSMIC |
| X | g.46853764T>G | CA413039585 | RP2 | c.391T>G (p.Cys131Gly) | |
| X | g.46853764T= | CA2427731429 | RP2 | c.391T= (p.Cys131=) | |
| X | g.46853764_46853765delinsTG | CA2427731430 | RP2 | c.391_392delinsTG (p.Cys131=) | |
| X | g.46853765del | CA16621891 | RP2 | c.392del (p.Cys131LeufsTer25) | ClinVar dbSNP |
| X | g.46853765G>A | CA413039590 | RP2 | c.392G>A (p.Cys131Tyr) | ClinVar COSMIC |
| X | g.46853765G>C | CA413039592 | RP2 | c.392G>C (p.Cys131Ser) | |
| X | g.46853765G>T | CA413039594 | RP2 | c.392G>T (p.Cys131Phe) | |
| X | g.46853766T>A | CA413039596 | RP2 | c.393T>A (p.Cys131Ter) | |
| X | g.46853766T>C | CA516371000 | RP2 | c.393T>C (p.Cys131=) | |
| X | g.46853766T>G | CA413039599 | RP2 | c.393T>G (p.Cys131Trp) | |
| X | g.46853767G>A | CA413039602 | RP2 | c.394G>A (p.Ala132Thr) | dbSNP |
| X | g.46853767G>C | CA413039606 | RP2 | c.394G>C (p.Ala132Pro) | |
| X | g.46853767G= | CA2427731431 | RP2 | c.394G= (p.Ala132=) | |
| X | g.46853767G>T | CA413039604 | RP2 | c.394G>T (p.Ala132Ser) | |
| X | g.46853767_46853768del | CA2739273472 | RP2 | c.394_395del (p.Ala132HisfsTer6) | ClinVar |
| X | g.46853768C>A | CA413039609 | RP2 | c.395C>A (p.Ala132Asp) | |
| X | g.46853768C>G | CA413039610 | RP2 | c.395C>G (p.Ala132Gly) | |
| X | g.46853768C>T | CA413039613 | RP2 | c.395C>T (p.Ala132Val) | |
| X | g.46853769_46853793del | CA2695233386 | RP2 | c.396_420del (p.Thr133GlnfsTer15) | |
| X | g.46853769C>A | CA516371011 | RP2 | c.396C>A (p.Ala132=) | |
| X | g.46853769C= | CA2427731432 | RP2 | c.396C= (p.Ala132=) | |
| X | g.46853769C>G | CA329691493 | RP2 | c.396C>G (p.Ala132=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.46853769C>T | CA516371015 | RP2 | c.396C>T (p.Ala132=) | |
| X | g.46853770A>C | CA413039617 | RP2 | c.397A>C (p.Thr133Pro) | |
| X | g.46853770A>G | CA413039619 | RP2 | c.397A>G (p.Thr133Ala) | |
| X | g.46853770A>T | CA413039621 | RP2 | c.397A>T (p.Thr133Ser) | |
| X | g.46853771C>A | CA413039623 | RP2 | c.398C>A (p.Thr133Asn) | |
| X | g.46853771C>G | CA413039625 | RP2 | c.398C>G (p.Thr133Ser) | |
| X | g.46853771C>T | CA413039627 | RP2 | c.398C>T (p.Thr133Ile) | COSMIC |
| X | g.46853772T>A | CA516371020 | RP2 | c.399T>A (p.Thr133=) | |
| X | g.46853772T>C | CA516371021 | RP2 | c.399T>C (p.Thr133=) | |
| X | g.46853772T>G | CA516371022 | RP2 | c.399T>G (p.Thr133=) | |
| X | g.46853773C>A | CA413039630 | RP2 | c.400C>A (p.Gln134Lys) | |
| X | g.46853773C= | CA2427731433 | RP2 | c.400C= (p.Gln134=) | |
| X | g.46853773C>G | CA413039632 | RP2 | c.400C>G (p.Gln134Glu) | |
| X | g.46853773C>T | CA413039634 | RP2 | c.400C>T (p.Gln134Ter) | ClinVar dbSNP |
| X | g.46853774A= | CA2427731434 | RP2 | c.401A= (p.Gln134=) | |
| X | g.46853774A>C | CA413039641 | RP2 | c.401A>C (p.Gln134Pro) | |
| X | g.46853774A>G | CA413039637 | RP2 | c.401A>G (p.Gln134Arg) | ClinVar dbSNP |
| X | g.46853774A>T | CA413039639 | RP2 | c.401A>T (p.Gln134Leu) | |
| X | g.46853775A>C | CA413039644 | RP2 | c.402A>C (p.Gln134His) | |
| X | g.46853775A>G | CA516371040 | RP2 | c.402A>G (p.Gln134=) | |
| X | g.46853775A>T | CA413039646 | RP2 | c.402A>T (p.Gln134His) | |
| X | g.46853776C>A | CA413039650 | RP2 | c.403C>A (p.Pro135Thr) | |
| X | g.46853776C>G | CA413039652 | RP2 | c.403C>G (p.Pro135Ala) | |
| X | g.46853776C>T | CA413039654 | RP2 | c.403C>T (p.Pro135Ser) | |
| X | g.46853777C>A | CA413039657 | RP2 | c.404C>A (p.Pro135His) | |
| X | g.46853777C>G | CA413039659 | RP2 | c.404C>G (p.Pro135Arg) | |
| X | g.46853777C>T | CA413039662 | RP2 | c.404C>T (p.Pro135Leu) | |
| X | g.46853778C>A | CA516371046 | RP2 | c.405C>A (p.Pro135=) | |
| X | g.46853778C>G | CA516371050 | RP2 | c.405C>G (p.Pro135=) | |
| X | g.46853778C>T | CA516371054 | RP2 | c.405C>T (p.Pro135=) | |
| X | g.46853779A>C | CA413039665 | RP2 | c.406A>C (p.Ile136Leu) | |
| X | g.46853779A>G | CA413039667 | RP2 | c.406A>G (p.Ile136Val) | |
| X | g.46853779A>T | CA413039669 | RP2 | c.406A>T (p.Ile136Phe) | |
| X | g.46853780T>A | CA413039676 | RP2 | c.407T>A (p.Ile136Asn) | |
| X | g.46853780T>C | CA413039674 | RP2 | c.407T>C (p.Ile136Thr) | |
| X | g.46853780T>G | CA413039672 | RP2 | c.407T>G (p.Ile136Ser) | |
| X | g.46853781C>A | CA516371071 | RP2 | c.408C>A (p.Ile136=) | |
| X | g.46853781C>G | CA413039678 | RP2 | c.408C>G (p.Ile136Met) | |
| X | g.46853781C>T | CA516371078 | RP2 | c.408C>T (p.Ile136=) | |
| X | g.46853781_46853784delinsCATT | CA2427731435 | RP2 | c.408_411delinsCATT (p.Ile136=) | |
| X | g.46853781_46853804delinsCATTGAGTCTTCCTCAAATATCAA | CA2427731436 | RP2 | c.408_431delinsCATTGAGTCTTCCTCAAATATCAA (p.Ile136=) | |
| X | g.46853782A>C | CA413039685 | RP2 | c.409A>C (p.Ile137Leu) | gnomAD v4 |
| X | g.46853782A>G | CA413039681 | RP2 | c.409A>G (p.Ile137Val) | gnomAD v4 |
| X | g.46853782A>T | CA413039683 | RP2 | c.409A>T (p.Ile137Phe) | |
| X | g.46853782_46853784del | CA916083940 | RP2 | c.409_411del (p.Ile137del) | ClinVar dbSNP |
| X | g.46853785_46853807del | CA916083941 | RP2 | c.412_434del (p.Glu138TrpfsTer9) | ClinVar dbSNP |
| X | g.46853783T>A | CA413039688 | RP2 | c.410T>A (p.Ile137Asn) | |
| X | g.46853783T>C | CA413039690 | RP2 | c.410T>C (p.Ile137Thr) | ClinVar dbSNP gnomAD v4 |
| X | g.46853783T>G | CA413039693 | RP2 | c.410T>G (p.Ile137Ser) | |
| X | g.46853784T>A | CA516371084 | RP2 | c.411T>A (p.Ile137=) | |
| X | g.46853784T>C | CA516371085 | RP2 | c.411T>C (p.Ile137=) | |
| X | g.46853784T>G | CA413039695 | RP2 | c.411T>G (p.Ile137Met) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.46853784T= | CA2427731437 | RP2 | c.411T= (p.Ile137=) | |
| X | g.46853785G>A | CA413039702 | RP2 | c.412G>A (p.Glu138Lys) | |
| X | g.46853785G>C | CA413039698 | RP2 | c.412G>C (p.Glu138Gln) | |
| X | g.46853785G>T | CA413039700 | RP2 | c.412G>T (p.Glu138Ter) | |
| X | g.46853786A= | CA2427731438 | RP2 | c.413A= (p.Glu138=) | |
| X | g.46853786A>C | CA413039704 | RP2 | c.413A>C (p.Glu138Ala) | ClinVar dbSNP |
| X | g.46853786A>G | CA413039706 | RP2 | c.413A>G (p.Glu138Gly) | |
| X | g.46853786A>T | CA413039709 | RP2 | c.413A>T (p.Glu138Val) | |
| X | g.46853787G>A | CA329691494 | RP2 | c.414G>A (p.Glu138=) | dbSNP |
| X | g.46853787G>C | CA413039711 | RP2 | c.414G>C (p.Glu138Asp) | |
| X | g.46853787G= | CA2427731439 | RP2 | c.414G= (p.Glu138=) | |
| X | g.46853787G>T | CA413039714 | RP2 | c.414G>T (p.Glu138Asp) | |
| X | g.46853788T>A | CA413039717 | RP2 | c.415T>A (p.Ser139Thr) | |
| X | g.46853788T>C | CA413039721 | RP2 | c.415T>C (p.Ser139Pro) | ClinVar dbSNP |
| X | g.46853788T>G | CA413039719 | RP2 | c.415T>G (p.Ser139Ala) | |
| X | g.46853788T= | CA2427731440 | RP2 | c.415T= (p.Ser139=) | |
| X | g.46853789C>A | CA413039724 | RP2 | c.416C>A (p.Ser139Tyr) | |
| X | g.46853789C>G | CA413039726 | RP2 | c.416C>G (p.Ser139Cys) | |
| X | g.46853789C>T | CA413039728 | RP2 | c.416C>T (p.Ser139Phe) | |
| X | g.46853790T>A | CA516371104 | RP2 | c.417T>A (p.Ser139=) | |
| X | g.46853790T>C | CA516371107 | RP2 | c.417T>C (p.Ser139=) | |
| X | g.46853790T>G | CA516371109 | RP2 | c.417T>G (p.Ser139=) | |
| X | g.46853791T>A | CA413039731 | RP2 | c.418T>A (p.Ser140Thr) | |
| X | g.46853791T>C | CA413039733 | RP2 | c.418T>C (p.Ser140Pro) | |
| X | g.46853791T>G | CA413039735 | RP2 | c.418T>G (p.Ser140Ala) | |
| X | g.46853792_46853799del | CA2695233387 | RP2 | c.419_426del (p.Ser140TyrfsTer12) | |
| X | g.46853792C>A | CA413039738 | RP2 | c.419C>A (p.Ser140Tyr) | |
| X | g.46853792C>G | CA413039740 | RP2 | c.419C>G (p.Ser140Cys) | |
| X | g.46853792C>T | CA413039742 | RP2 | c.419C>T (p.Ser140Phe) | |
| X | g.46853793C>A | CA516371115 | RP2 | c.420C>A (p.Ser140=) | |
| X | g.46853793C= | CA2427731441 | RP2 | c.420C= (p.Ser140=) | |
| X | g.46853793C>G | CA516371118 | RP2 | c.420C>G (p.Ser140=) | |
| X | g.46853793C>T | CA10394210 | RP2 | c.420C>T (p.Ser140=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.46853794T>A | CA413039750 | RP2 | c.421T>A (p.Ser141Thr) | COSMIC |
| X | g.46853794T>C | CA413039748 | RP2 | c.421T>C (p.Ser141Pro) | |
| X | g.46853794T>G | CA413039746 | RP2 | c.421T>G (p.Ser141Ala) | |
| X | g.46853795C>A | CA413039753 | RP2 | c.422C>A (p.Ser141Ter) | |
| X | g.46853795C= | CA2427731442 | RP2 | c.422C= (p.Ser141=) | |
| X | g.46853795C>G | CA413039755 | RP2 | c.422C>G (p.Ser141Ter) | |
| X | g.46853795C>T | CA413039758 | RP2 | c.422C>T (p.Ser141Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.46853796A>C | CA516371131 | RP2 | c.423A>C (p.Ser141=) | |
| X | g.46853796A>G | CA516371132 | RP2 | c.423A>G (p.Ser141=) | |
| X | g.46853796A>T | CA516371133 | RP2 | c.423A>T (p.Ser141=) | |
| X | g.46853798del | CA2579593054 | RP2 | c.425del (p.Asn142IlefsTer14) | |
| X | g.46853797A>C | CA413039760 | RP2 | c.424A>C (p.Asn142His) | gnomAD v4 |
| X | g.46853797A>G | CA413039763 | RP2 | c.424A>G (p.Asn142Asp) | gnomAD v4 |
| X | g.46853797A>T | CA413039765 | RP2 | c.424A>T (p.Asn142Tyr) | |
| X | g.46853798A= | CA2427731443 | RP2 | c.425A= (p.Asn142=) | |
| X | g.46853798A>C | CA10394211 | RP2 | c.425A>C (p.Asn142Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.46853798A>G | CA413039768 | RP2 | c.425A>G (p.Asn142Ser) | dbSNP gnomAD v4 |
| X | g.46853798A>T | CA413039770 | RP2 | c.425A>T (p.Asn142Ile) | |
| X | g.46853799T>A | CA413039774 | RP2 | c.426T>A (p.Asn142Lys) | |
| X | g.46853799T>C | CA516371152 | RP2 | c.426T>C (p.Asn142=) | |
| X | g.46853799T>G | CA413039775 | RP2 | c.426T>G (p.Asn142Lys) | |
| X | g.46853800A>C | CA413039779 | RP2 | c.427A>C (p.Ile143Leu) | |
| X | g.46853800A>G | CA413039781 | RP2 | c.427A>G (p.Ile143Val) | |
| X | g.46853800A>T | CA413039783 | RP2 | c.427A>T (p.Ile143Phe) | |
| X | g.46853801T>A | CA413039786 | RP2 | c.428T>A (p.Ile143Asn) | |
| X | g.46853801T>C | CA329691495 | RP2 | c.428T>C (p.Ile143Thr) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.46853801T>G | CA413039788 | RP2 | c.428T>G (p.Ile143Ser) | |
| X | g.46853801T= | CA2427731444 | RP2 | c.428T= (p.Ile143=) | |
| X | g.46853802C>A | CA516371163 | RP2 | c.429C>A (p.Ile143=) | ClinVar gnomAD v4 |
| X | g.46853802C>G | CA413039792 | RP2 | c.429C>G (p.Ile143Met) | |
| X | g.46853802C>T | CA516371168 | RP2 | c.429C>T (p.Ile143=) | |
| X | g.46853803A>C | CA413039794 | RP2 | c.430A>C (p.Lys144Gln) | |
| X | g.46853803A>G | CA413039797 | RP2 | c.430A>G (p.Lys144Glu) | |
| X | g.46853803A>T | CA413039799 | RP2 | c.430A>T (p.Lys144Ter) | ClinVar |
| X | g.46853804A= | CA2427731445 | RP2 | c.431A= (p.Lys144=) | |
| X | g.46853804A>C | CA413039801 | RP2 | c.431A>C (p.Lys144Thr) | |
| X | g.46853804A>G | CA329691496 | RP2 | c.431A>G (p.Lys144Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.46853804A>T | CA413039805 | RP2 | c.431A>T (p.Lys144Ile) | |
| X | g.46853805A>C | CA413039808 | RP2 | c.432A>C (p.Lys144Asn) | |
| X | g.46853805A>G | CA516371187 | RP2 | c.432A>G (p.Lys144=) | |
| X | g.46853805A>T | CA413039810 | RP2 | c.432A>T (p.Lys144Asn) | |
| X | g.46853806T>A | CA413039813 | RP2 | c.433T>A (p.Phe145Ile) | |
| X | g.46853806T>C | CA413039815 | RP2 | c.433T>C (p.Phe145Leu) | |
| X | g.46853806T>G | CA413039817 | RP2 | c.433T>G (p.Phe145Val) | |
| X | g.46853807T>A | CA413039820 | RP2 | c.434T>A (p.Phe145Tyr) | |
| X | g.46853807T>C | CA329691497 | RP2 | c.434T>C (p.Phe145Ser) | ClinVar dbSNP gnomAD v4 |
| X | g.46853807T>G | CA413039819 | RP2 | c.434T>G (p.Phe145Cys) | |
| X | g.46853807T= | CA2427731446 | RP2 | c.434T= (p.Phe145=) | |
| X | g.46853808T>A | CA413039825 | RP2 | c.435T>A (p.Phe145Leu) | |
| X | g.46853808T>C | CA516371208 | RP2 | c.435T>C (p.Phe145=) | |
| X | g.46853808T>G | CA413039824 | RP2 | c.435T>G (p.Phe145Leu) | |
| X | g.46853809G>A | CA413039831 | RP2 | c.436G>A (p.Gly146Arg) | |
| X | g.46853809G>C | CA413039828 | RP2 | c.436G>C (p.Gly146Arg) | |
| X | g.46853809G>T | CA413039830 | RP2 | c.436G>T (p.Gly146Ter) | |
| X | g.46853810G>A | CA413039833 | RP2 | c.437G>A (p.Gly146Glu) | |
| X | g.46853810G>C | CA413039835 | RP2 | c.437G>C (p.Gly146Ala) | |
| X | g.46853810G>T | CA413039836 | RP2 | c.437G>T (p.Gly146Val) | |
| X | g.46853811A= | CA2427731447 | RP2 | c.438A= (p.Gly146=) | |
| X | g.46853811A>C | CA516371216 | RP2 | c.438A>C (p.Gly146=) | |
| X | g.46853811A>G | CA10394212 | RP2 | c.438A>G (p.Gly146=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.46853811A>T | CA516371217 | RP2 | c.438A>T (p.Gly146=) | |
| X | g.46853812T>A | CA413039845 | RP2 | c.439T>A (p.Cys147Ser) | |
| X | g.46853812T>C | CA413039841 | RP2 | c.439T>C (p.Cys147Arg) | |
| X | g.46853812T>G | CA413039843 | RP2 | c.439T>G (p.Cys147Gly) | |
| X | g.46853813G>A | CA413039849 | RP2 | c.440G>A (p.Cys147Tyr) | ClinVar dbSNP |
| X | g.46853813G>C | CA413039850 | RP2 | c.440G>C (p.Cys147Ser) | |
| X | g.46853813G= | CA2427731448 | RP2 | c.440G= (p.Cys147=) | |
| X | g.46853813G>T | CA413039853 | RP2 | c.440G>T (p.Cys147Phe) | |
| X | g.46853814T>A | CA413039855 | RP2 | c.441T>A (p.Cys147Ter) | |
| X | g.46853814T>C | CA516371228 | RP2 | c.441T>C (p.Cys147=) | |
| X | g.46853814T>G | CA413039857 | RP2 | c.441T>G (p.Cys147Trp) | |
| X | g.46853815T>A | CA413039860 | RP2 | c.442T>A (p.Phe148Ile) | |
| X | g.46853815T>C | CA413039865 | RP2 | c.442T>C (p.Phe148Leu) | |
| X | g.46853815T>G | CA413039863 | RP2 | c.442T>G (p.Phe148Val) | gnomAD v4 |
| X | g.46853816T>A | CA413039868 | RP2 | c.443T>A (p.Phe148Tyr) | |
| X | g.46853816T>C | CA413039869 | RP2 | c.443T>C (p.Phe148Ser) | |
| X | g.46853816T>G | CA413039872 | RP2 | c.443T>G (p.Phe148Cys) | |
| X | g.46853817T>A | CA413039874 | RP2 | c.444T>A (p.Phe148Leu) | |
| X | g.46853817T>C | CA516371246 | RP2 | c.444T>C (p.Phe148=) | |
| X | g.46853817T>G | CA413039877 | RP2 | c.444T>G (p.Phe148Leu) | |
| X | g.46853818C>A | CA413039879 | RP2 | c.445C>A (p.Gln149Lys) | |
| X | g.46853818C>G | CA413039881 | RP2 | c.445C>G (p.Gln149Glu) | |
| X | g.46853818C>T | CA413039884 | RP2 | c.445C>T (p.Gln149Ter) | |
| X | g.46853819A>C | CA413039886 | RP2 | c.446A>C (p.Gln149Pro) | |
| X | g.46853819A>G | CA413039888 | RP2 | c.446A>G (p.Gln149Arg) | |
| X | g.46853819A>T | CA413039890 | RP2 | c.446A>T (p.Gln149Leu) | |
| X | g.46853820A= | CA2427731449 | RP2 | c.447A= (p.Gln149=) | |
| X | g.46853820A>C | CA413039892 | RP2 | c.447A>C (p.Gln149His) | |
| X | g.46853820A>G | CA516371253 | RP2 | c.447A>G (p.Gln149=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.46853820A>T | CA413039895 | RP2 | c.447A>T (p.Gln149His) | |
| X | g.46853821T>A | CA413039897 | RP2 | c.448T>A (p.Trp150Arg) | |
| X | g.46853821T>C | CA413039900 | RP2 | c.448T>C (p.Trp150Arg) | |
| X | g.46853821T>G | CA413039901 | RP2 | c.448T>G (p.Trp150Gly) | |
| X | g.46853822G>A | CA413039904 | RP2 | c.449G>A (p.Trp150Ter) | COSMIC |
| X | g.46853822G>C | CA413039906 | RP2 | c.449G>C (p.Trp150Ser) | |
| X | g.46853822G>T | CA413039908 | RP2 | c.449G>T (p.Trp150Leu) | |
| X | g.46853823G>A | CA413039911 | RP2 | c.450G>A (p.Trp150Ter) | ClinVar dbSNP |
| X | g.46853823G>C | CA413039913 | RP2 | c.450G>C (p.Trp150Cys) | ClinVar |
| X | g.46853823G= | CA2427731450 | RP2 | c.450G= (p.Trp150=) | |
| X | g.46853823G>T | CA413039915 | RP2 | c.450G>T (p.Trp150Cys) | ClinVar dbSNP |
| X | g.46853824T>A | CA413039918 | RP2 | c.451T>A (p.Tyr151Asn) | |
| X | g.46853824T>C | CA413039920 | RP2 | c.451T>C (p.Tyr151His) | |
| X | g.46853824T>G | CA413039923 | RP2 | c.451T>G (p.Tyr151Asp) | |
| X | g.46853825A>C | CA413039931 | RP2 | c.452A>C (p.Tyr151Ser) | |
| X | g.46853825A>G | CA413039928 | RP2 | c.452A>G (p.Tyr151Cys) | |
| X | g.46853825A>T | CA413039925 | RP2 | c.452A>T (p.Tyr151Phe) | |
| X | g.46853826del | CA2499226730 | RP2 | c.453del (p.Tyr152IlefsTer4) | ClinVar dbSNP |
| X | g.46853826C>A | CA413039933 | RP2 | c.453C>A (p.Tyr151Ter) | |
| X | g.46853826C= | CA2427731451 | RP2 | c.453C= (p.Tyr151=) | |
| X | g.46853826C>G | CA255302 | RP2 | c.453C>G (p.Tyr151Ter) | ClinVar dbSNP |
| X | g.46853826C>T | CA516371270 | RP2 | c.453C>T (p.Tyr151=) | gnomAD v4 |
| X | g.46853827T>A | CA413039938 | RP2 | c.454T>A (p.Tyr152Asn) | |
| X | g.46853827T>C | CA413039940 | RP2 | c.454T>C (p.Tyr152His) | |
| X | g.46853827T>G | CA413039942 | RP2 | c.454T>G (p.Tyr152Asp) | |
| X | g.46853828A>C | CA413039945 | RP2 | c.455A>C (p.Tyr152Ser) | |
| X | g.46853828A>G | CA413039947 | RP2 | c.455A>G (p.Tyr152Cys) | |
| X | g.46853828A>T | CA413039950 | RP2 | c.455A>T (p.Tyr152Phe) | |
| X | g.46853829T>A | CA413039953 | RP2 | c.456T>A (p.Tyr152Ter) | |
| X | g.46853829T>C | CA516371276 | RP2 | c.456T>C (p.Tyr152=) | |
| X | g.46853829T>G | CA413039955 | RP2 | c.456T>G (p.Tyr152Ter) | |
| X | g.46853830C>A | CA413039958 | RP2 | c.457C>A (p.Pro153Thr) | |
| X | g.46853830C>G | CA413039960 | RP2 | c.457C>G (p.Pro153Ala) | |
| X | g.46853830C>T | CA413039962 | RP2 | c.457C>T (p.Pro153Ser) | gnomAD v4 |
| X | g.46853831C>A | CA413039970 | RP2 | c.458C>A (p.Pro153His) | |
| X | g.46853831C>G | CA413039967 | RP2 | c.458C>G (p.Pro153Arg) | |
| X | g.46853831C>T | CA413039965 | RP2 | c.458C>T (p.Pro153Leu) | |
| X | g.46853832T>A | CA516371284 | RP2 | c.459T>A (p.Pro153=) | |
| X | g.46853832T>C | CA516371285 | RP2 | c.459T>C (p.Pro153=) | |
| X | g.46853832T>G | CA516371287 | RP2 | c.459T>G (p.Pro153=) | |
| X | g.46853833G>A | CA413039974 | RP2 | c.460G>A (p.Glu154Lys) | |
| X | g.46853833G>C | CA413039972 | RP2 | c.460G>C (p.Glu154Gln) | |
| X | g.46853833G>T | CA413039976 | RP2 | c.460G>T (p.Glu154Ter) | |
| X | g.46853834A>C | CA413039979 | RP2 | c.461A>C (p.Glu154Ala) | |
| X | g.46853834A>G | CA413039981 | RP2 | c.461A>G (p.Glu154Gly) | |
| X | g.46853834A>T | CA413039982 | RP2 | c.461A>T (p.Glu154Val) | |
| X | g.46853834_46853836dup | CA2580101004 | RP2 | c.461_463dup (p.Leu155Ter) | ClinVar |
| X | g.46853835A>C | CA413039983 | RP2 | c.462A>C (p.Glu154Asp) | |
| X | g.46853835A>G | CA516371292 | RP2 | c.462A>G (p.Glu154=) | |
| X | g.46853835A>T | CA413039984 | RP2 | c.462A>T (p.Glu154Asp) | |
| X | g.46853836T>A | CA413039985 | RP2 | c.463T>A (p.Leu155Ile) | |
| X | g.46853836T>C | CA516371295 | RP2 | c.463T>C (p.Leu155=) | |
| X | g.46853836T>G | CA413039986 | RP2 | c.463T>G (p.Leu155Val) | |
| X | g.46853837T>A | CA413039987 | RP2 | c.464T>A (p.Leu155Ter) | |
| X | g.46853837T>C | CA413039988 | RP2 | c.464T>C (p.Leu155Ser) | |
| X | g.46853837T>G | CA413039989 | RP2 | c.464T>G (p.Leu155Ter) | |
| X | g.46853838_46853841dup | CA2499226731 | RP2 | c.465_468dup (p.Phe157SerfsTer18) | ClinVar dbSNP |
| X | g.46853838A= | CA2427731452 | RP2 | c.465A= (p.Leu155=) | |
| X | g.46853838A>C | CA413039990 | RP2 | c.465A>C (p.Leu155Phe) | ClinVar dbSNP gnomAD v4 |
| X | g.46853838A>G | CA516371301 | RP2 | c.465A>G (p.Leu155=) | |
| X | g.46853838A>T | CA413039991 | RP2 | c.465A>T (p.Leu155Phe) | |
| X | g.46853839G>A | CA413039994 | RP2 | c.466G>A (p.Ala156Thr) | |
| X | g.46853839G>C | CA413039993 | RP2 | c.466G>C (p.Ala156Pro) | |
| X | g.46853839G>T | CA413039992 | RP2 | c.466G>T (p.Ala156Ser) | |
| X | g.46853840C>A | CA413039995 | RP2 | c.467C>A (p.Ala156Asp) | COSMIC |
| X | g.46853840C= | CA2427731453 | RP2 | c.467C= (p.Ala156=) | |
| X | g.46853840C>G | CA413039996 | RP2 | c.467C>G (p.Ala156Gly) | |
| X | g.46853840C>T | CA413039997 | RP2 | c.467C>T (p.Ala156Val) | |
| X | g.46853841T>A | CA516370407 | RP2 | c.468T>A (p.Ala156=) | gnomAD v4 |
| X | g.46853841T>C | CA516370408 | RP2 | c.468T>C (p.Ala156=) | |
| X | g.46853841T>G | CA516370409 | RP2 | c.468T>G (p.Ala156=) | |
| X | g.46853843dup | CA329691498 | RP2 | c.470dup (p.Gln158ProfsTer16) | dbSNP |
| X | g.46853842T>A | CA413039998 | RP2 | c.469T>A (p.Phe157Ile) | |
| X | g.46853842T>C | CA413039999 | RP2 | c.469T>C (p.Phe157Leu) | |
| X | g.46853842T>G | CA413040000 | RP2 | c.469T>G (p.Phe157Val) | |
| X | g.46853843T>A | CA413040001 | RP2 | c.470T>A (p.Phe157Tyr) | |
| X | g.46853843T>C | CA413040002 | RP2 | c.470T>C (p.Phe157Ser) | |
| X | g.46853843T>G | CA413040003 | RP2 | c.470T>G (p.Phe157Cys) | |
| X | g.46853844C>A | CA413040004 | RP2 | c.471C>A (p.Phe157Leu) | |
| X | g.46853844C= | CA2427731454 | RP2 | c.471C= (p.Phe157=) | |
| X | g.46853844C>G | CA413040005 | RP2 | c.471C>G (p.Phe157Leu) | |
| X | g.46853844C>T | CA516370410 | RP2 | c.471C>T (p.Phe157=) | dbSNP |
| X | g.46853845C>A | CA413040008 | RP2 | c.472C>A (p.Gln158Lys) | |
| X | g.46853845C>G | CA413040007 | RP2 | c.472C>G (p.Gln158Glu) | |
| X | g.46853845C>T | CA413040006 | RP2 | c.472C>T (p.Gln158Ter) | ClinVar dbSNP |
| X | g.46853846A>C | CA413040009 | RP2 | c.473A>C (p.Gln158Pro) | |
| X | g.46853846A>G | CA413040010 | RP2 | c.473A>G (p.Gln158Arg) | |
| X | g.46853846A>T | CA413040011 | RP2 | c.473A>T (p.Gln158Leu) | |
| X | g.46853847G>A | CA516370411 | RP2 | c.474G>A (p.Gln158=) | |
| X | g.46853847G>C | CA413040012 | RP2 | c.474G>C (p.Gln158His) | |
| X | g.46853847G>T | CA413040013 | RP2 | c.474G>T (p.Gln158His) | |
| X | g.46853848T>A | CA413040014 | RP2 | c.475T>A (p.Phe159Ile) | |
| X | g.46853848T>C | CA413040015 | RP2 | c.475T>C (p.Phe159Leu) | |
| X | g.46853848T>G | CA413040016 | RP2 | c.475T>G (p.Phe159Val) | |
| X | g.46853849T>A | CA413040017 | RP2 | c.476T>A (p.Phe159Tyr) | |
| X | g.46853849T>C | CA413040018 | RP2 | c.476T>C (p.Phe159Ser) | |
| X | g.46853849T>G | CA413040019 | RP2 | c.476T>G (p.Phe159Cys) | |
| X | g.46853850C>A | CA413040020 | RP2 | c.477C>A (p.Phe159Leu) | |
| X | g.46853850C>G | CA413040021 | RP2 | c.477C>G (p.Phe159Leu) | |
| X | g.46853850C>T | CA516370412 | RP2 | c.477C>T (p.Phe159=) | |
| X | g.46853851A>C | CA413040024 | RP2 | c.478A>C (p.Lys160Gln) | |
| X | g.46853851A>G | CA413040022 | RP2 | c.478A>G (p.Lys160Glu) | |
| X | g.46853851A>T | CA413040023 | RP2 | c.478A>T (p.Lys160Ter) | |
| X | g.46853852A>C | CA413040025 | RP2 | c.479A>C (p.Lys160Thr) | |
| X | g.46853852A>G | CA413040026 | RP2 | c.479A>G (p.Lys160Arg) | |
| X | g.46853852A>T | CA413040027 | RP2 | c.479A>T (p.Lys160Ile) | |
| X | g.46853853A>C | CA413040028 | RP2 | c.480A>C (p.Lys160Asn) | |
| X | g.46853853A>G | CA516370413 | RP2 | c.480A>G (p.Lys160=) | |
| X | g.46853853A>T | CA413040029 | RP2 | c.480A>T (p.Lys160Asn) | |
| X | g.46853854G>A | CA413040030 | RP2 | c.481G>A (p.Asp161Asn) | |
| X | g.46853854G>C | CA413040031 | RP2 | c.481G>C (p.Asp161His) | |
| X | g.46853854G= | CA2427731455 | RP2 | c.481G= (p.Asp161=) | |
| X | g.46853854G>T | CA10394213 | RP2 | c.481G>T (p.Asp161Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.46853854_46853855delinsGA | CA2427731456 | RP2 | c.481_482delinsGA (p.Asp161=) | |
| X | g.46853855del | CA1139667498 | RP2 | c.482del (p.Asp161ValfsTer4) | ClinVar dbSNP |
| X | g.46853855A>C | CA413040032 | RP2 | c.482A>C (p.Asp161Ala) | |
| X | g.46853855A>G | CA413040033 | RP2 | c.482A>G (p.Asp161Gly) | |
| X | g.46853855A>T | CA413040034 | RP2 | c.482A>T (p.Asp161Val) | |
| X | g.46853856T>A | CA413040035 | RP2 | c.483T>A (p.Asp161Glu) | |
| X | g.46853856T>C | CA516370414 | RP2 | c.483T>C (p.Asp161=) | |
| X | g.46853856T>G | CA413040036 | RP2 | c.483T>G (p.Asp161Glu) | |
| X | g.46853856_46853861delinsTGCAGG | CA2427731457 | RP2 | c.483_488delinsTGCAGG (p.Asp161=) | |
| X | g.46853857G>A | CA413040038 | RP2 | c.484G>A (p.Ala162Thr) | |
| X | g.46853857G>C | CA413040039 | RP2 | c.484G>C (p.Ala162Pro) | |
| X | g.46853857G>T | CA413040037 | RP2 | c.484G>T (p.Ala162Ser) | |
| X | g.46853857_46853858insGGCTAAG | CA2695233388 | RP2 | c.484_485insGGCTAAG (p.Ala162GlyfsTer14) | |
| X | g.46853859_46853863del | CA658825030 | RP2 | c.486_490del (p.Gly163LysfsTer9) | ClinVar dbSNP |
| X | g.46853858C>A | CA413040040 | RP2 | c.485C>A (p.Ala162Glu) | |
| X | g.46853858C>G | CA413040042 | RP2 | c.485C>G (p.Ala162Gly) | |
| X | g.46853858C>T | CA413040041 | RP2 | c.485C>T (p.Ala162Val) | |
| X | g.46853859A= | CA2427731458 | RP2 | c.486A= (p.Ala162=) | |
| X | g.46853859A>C | CA516370415 | RP2 | c.486A>C (p.Ala162=) | |
| X | g.46853859A>G | CA516370416 | RP2 | c.486A>G (p.Ala162=) | dbSNP gnomAD v4 |
| X | g.46853859A>T | CA516370417 | RP2 | c.486A>T (p.Ala162=) | |
| X | g.46853860G>A | CA413040043 | RP2 | c.487G>A (p.Gly163Arg) | |
| X | g.46853860G>C | CA413040045 | RP2 | c.487G>C (p.Gly163Arg) | |
| X | g.46853860G>T | CA413040044 | RP2 | c.487G>T (p.Gly163Trp) | |
| X | g.46853861G>A | CA413040046 | RP2 | c.488G>A (p.Gly163Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.46853861G>C | CA413040047 | RP2 | c.488G>C (p.Gly163Ala) | |
| X | g.46853861G= | CA2427731459 | RP2 | c.488G= (p.Gly163=) | |
| X | g.46853861G>T | CA413040048 | RP2 | c.488G>T (p.Gly163Val) | COSMIC |
| X | g.46853862G>A | CA516370418 | RP2 | c.489G>A (p.Gly163=) | ClinVar gnomAD v4 |
| X | g.46853862G>C | CA516370419 | RP2 | c.489G>C (p.Gly163=) | |
| X | g.46853862G>T | CA516370420 | RP2 | c.489G>T (p.Gly163=) | |
| X | g.46853863C>A | CA413040049 | RP2 | c.490C>A (p.Leu164Ile) | |
| X | g.46853863C>G | CA413040050 | RP2 | c.490C>G (p.Leu164Val) | |
| X | g.46853863C>T | CA516370421 | RP2 | c.490C>T (p.Leu164=) | |
| X | g.46853864T>A | CA413040051 | RP2 | c.491T>A (p.Leu164Gln) | |
| X | g.46853864T>C | CA413040052 | RP2 | c.491T>C (p.Leu164Pro) | ClinVar |
| X | g.46853864T>G | CA413040053 | RP2 | c.491T>G (p.Leu164Arg) |