X | g.46853769_46853793del | CA2695233386 | RP2 | c.396_420del (p.Thr133GlnfsTer15)
| |
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)
| |
X | g.46853865A>C | CA516370422 | RP2 | c.492A>C (p.Leu164=)
| |
X | g.46853865A>G | CA516370423 | RP2 | c.492A>G (p.Leu164=)
| |
X | g.46853865A>T | CA516370424 | RP2 | c.492A>T (p.Leu164=)
| |
X | g.46853866A>C | CA413040054 | RP2 | c.493A>C (p.Ser165Arg)
| |
X | g.46853866A>G | CA413040055 | RP2 | c.493A>G (p.Ser165Gly)
| |
X | g.46853866A>T | CA413040056 | RP2 | c.493A>T (p.Ser165Cys)
| |
X | g.46853867G>A | CA413040057 | RP2 | c.494G>A (p.Ser165Asn)
| |
X | g.46853867G>C | CA413040059 | RP2 | c.494G>C (p.Ser165Thr)
| |
X | g.46853867G>T | CA413040058 | RP2 | c.494G>T (p.Ser165Ile)
| |
X | g.46853868T>A | CA413040060 | RP2 | c.495T>A (p.Ser165Arg)
| |
X | g.46853868T>C | CA516370425 | RP2 | c.495T>C (p.Ser165=)
| |
X | g.46853868T>G | CA413040061 | RP2 | c.495T>G (p.Ser165Arg)
| |
X | g.46853869A= | CA2427731460 | RP2 | c.496A= (p.Ile166=)
| |
X | g.46853869A>C | CA413040062 | RP2 | c.496A>C (p.Ile166Leu)
| |
X | g.46853869A>G | CA10394214 | RP2 | c.496A>G (p.Ile166Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.46853869A>T | CA413040063 | RP2 | c.496A>T (p.Ile166Phe)
| |
X | g.46853870T>A | CA413040064 | RP2 | c.497T>A (p.Ile166Asn)
| |
X | g.46853870T>C | CA413040065 | RP2 | c.497T>C (p.Ile166Thr)
| |
X | g.46853870T>G | CA413040066 | RP2 | c.497T>G (p.Ile166Ser)
| |