Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.46704143_46704157delinsTGTCCTCCCCGACAG | CA2339041854 | PRKD2 | c.889+12_889+26delinsCTGTCGGGGAGGACA (n.889+12_889+26delinsCTGTCGGGGAGGACA) c.418+12_418+26delinsCTGTCGGGGAGGACA (n.418+12_418+26delinsCTGTCGGGGAGGACA) c.41-3045_41-3031delinsCTGTCGGGGAGGACA (n.41-3045_41-3031delinsCTGTCGGGGAGGACA) | |
19 | g.46704145_46704158del | CA9531024 | PRKD2 | c.889+12_889+25del (n.889+12_889+25del) c.418+12_418+25del (n.418+12_418+25del) c.41-3045_41-3032del (n.41-3045_41-3032del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.46704158G>A | CA9531028 | PRKD2 | c.889+11C>T (n.889+11C>T) c.418+11C>T (n.418+11C>T) c.41-3046C>T (n.41-3046C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.46704158G= | CA2339041858 | PRKD2 | c.889+11C= (n.889+11C=) c.418+11C= (n.418+11C=) c.41-3046C= (n.41-3046C=) | |
19 | g.46704161_46704162delinsCA | CA2339041859 | PRKD2 | c.889+7_889+8delinsTG (n.889+7_889+8delinsTG) c.418+7_418+8delinsTG (n.418+7_418+8delinsTG) c.41-3050_41-3049delinsTG (n.41-3050_41-3049delinsTG) | |
19 | g.46704162del | CA9531029 | PRKD2 | c.889+7del (n.889+7del) c.418+7del (n.418+7del) c.41-3050del (n.41-3050del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.46704162A>G | CA2585971174 | PRKD2 | c.889+7T>C (n.889+7T>C) c.418+7T>C (n.418+7T>C) c.41-3050T>C (n.41-3050T>C) | gnomAD v4 |
19 | g.46704166A= | CA2339041860 | PRKD2 | c.889+3T= (n.889+3T=) c.418+3T= (n.418+3T=) c.41-3054T= (n.41-3054T=) | |
19 | g.46704166A>C | CA9531030 | PRKD2 | c.889+3T>G (n.889+3T>G) c.418+3T>G (n.418+3T>G) c.41-3054T>G (n.41-3054T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.46704167A>C | CA406488781 | PRKD2 | c.889+2T>G (n.889+2T>G) c.418+2T>G (n.418+2T>G) c.41-3055T>G (n.41-3055T>G) | |
19 | g.46704167A>G | CA406488782 | PRKD2 | c.889+2T>C (n.889+2T>C) c.418+2T>C (n.418+2T>C) c.41-3055T>C (n.41-3055T>C) | |
19 | g.46704167A>T | CA406488783 | PRKD2 | c.889+2T>A (n.889+2T>A) c.418+2T>A (n.418+2T>A) c.41-3055T>A (n.41-3055T>A) | |
19 | g.46704168C>A | CA406488784 | PRKD2 | c.889+1G>T (n.889+1G>T) c.418+1G>T (n.418+1G>T) c.41-3056G>T (n.41-3056G>T) | |
19 | g.46704168C= | CA2339041861 | PRKD2 | c.889+1G= (n.889+1G=) c.418+1G= (n.418+1G=) c.41-3056G= (n.41-3056G=) | |
19 | g.46704168C>G | CA406488785 | PRKD2 | c.889+1G>C (n.889+1G>C) c.418+1G>C (n.418+1G>C) c.41-3056G>C (n.41-3056G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.46704168C>T | CA406488786 | PRKD2 | c.889+1G>A (n.889+1G>A) c.418+1G>A (n.418+1G>A) c.41-3056G>A (n.41-3056G>A) | |
19 | g.46704169C>A | CA406488787 | PRKD2 | c.889G>T (p.Asp297Tyr) c.418G>T (p.Asp140Tyr) c.41-3057G>T (n.41-3057G>T) | |
19 | g.46704169C>G | CA406488789 | PRKD2 | c.889G>C (p.Asp297His) c.418G>C (p.Asp140His) c.41-3057G>C (n.41-3057G>C) | |
19 | g.46704169C>T | CA406488788 | PRKD2 | c.889G>A (p.Asp297Asn) c.418G>A (p.Asp140Asn) c.41-3057G>A (n.41-3057G>A) | |
19 | g.46704170T>A | CA406488790 | PRKD2 | c.888A>T (p.Lys296Asn) c.417A>T (p.Lys139Asn) c.41-3058A>T (n.41-3058A>T) | |
19 | g.46704170T>C | CA507974714 | PRKD2 | c.888A>G (p.Lys296=) c.417A>G (p.Lys139=) c.41-3058A>G (n.41-3058A>G) | |
19 | g.46704170T>G | CA406488791 | PRKD2 | c.888A>C (p.Lys296Asn) c.417A>C (p.Lys139Asn) c.41-3058A>C (n.41-3058A>C) | |
19 | g.46704171T>A | CA406488792 | PRKD2 | c.887A>T (p.Lys296Ile) c.416A>T (p.Lys139Ile) c.41-3059A>T (n.41-3059A>T) | |
19 | g.46704171T>C | CA9531031 | PRKD2 | c.887A>G (p.Lys296Arg) c.416A>G (p.Lys139Arg) c.41-3059A>G (n.41-3059A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.46704171T>G | CA406488793 | PRKD2 | c.887A>C (p.Lys296Thr) c.416A>C (p.Lys139Thr) c.41-3059A>C (n.41-3059A>C) | |
19 | g.46704171T= | CA2339041862 | PRKD2 | c.887A= (p.Lys296=) c.416A= (p.Lys139=) c.41-3059A= (n.41-3059A=) | |
19 | g.46704172T>A | CA406488794 | PRKD2 | c.886A>T (p.Lys296Ter) c.415A>T (p.Lys139Ter) c.41-3060A>T (n.41-3060A>T) | |
19 | g.46704172T>C | CA406488795 | PRKD2 | c.886A>G (p.Lys296Glu) c.415A>G (p.Lys139Glu) c.41-3060A>G (n.41-3060A>G) | |
19 | g.46704172T>G | CA406488796 | PRKD2 | c.886A>C (p.Lys296Gln) c.415A>C (p.Lys139Gln) c.41-3060A>C (n.41-3060A>C) | |
19 | g.46704173G>A | CA507974715 | PRKD2 | c.885C>T (p.Cys295=) c.414C>T (p.Cys138=) c.41-3061C>T (n.41-3061C>T) | |
19 | g.46704173G>C | CA406488797 | PRKD2 | c.885C>G (p.Cys295Trp) c.414C>G (p.Cys138Trp) c.41-3061C>G (n.41-3061C>G) | |
19 | g.46704173G>T | CA406488798 | PRKD2 | c.885C>A (p.Cys295Ter) c.414C>A (p.Cys138Ter) c.41-3061C>A (n.41-3061C>A) | |
19 | g.46704174C>A | CA406488799 | PRKD2 | c.884G>T (p.Cys295Phe) c.413G>T (p.Cys138Phe) c.41-3062G>T (n.41-3062G>T) | |
19 | g.46704174C>G | CA406488800 | PRKD2 | c.884G>C (p.Cys295Ser) c.413G>C (p.Cys138Ser) c.41-3062G>C (n.41-3062G>C) | |
19 | g.46704174C>T | CA406488801 | PRKD2 | c.884G>A (p.Cys295Tyr) c.413G>A (p.Cys138Tyr) c.41-3062G>A (n.41-3062G>A) | |
19 | g.46704175A>C | CA406488804 | PRKD2 | c.883T>G (p.Cys295Gly) c.412T>G (p.Cys138Gly) c.41-3063T>G (n.41-3063T>G) | |
19 | g.46704175A>G | CA406488802 | PRKD2 | c.883T>C (p.Cys295Arg) c.412T>C (p.Cys138Arg) c.41-3063T>C (n.41-3063T>C) | |
19 | g.46704175A>T | CA406488803 | PRKD2 | c.883T>A (p.Cys295Ser) c.412T>A (p.Cys138Ser) c.41-3063T>A (n.41-3063T>A) | |
19 | g.46704176T>A | CA406488805 | PRKD2 | c.882A>T (p.Gln294His) c.411A>T (p.Gln137His) c.41-3064A>T (n.41-3064A>T) | |
19 | g.46704176T>C | CA9531032 | PRKD2 | c.882A>G (p.Gln294=) c.411A>G (p.Gln137=) c.41-3064A>G (n.41-3064A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.46704176T>G | CA406488806 | PRKD2 | c.882A>C (p.Gln294His) c.411A>C (p.Gln137His) c.41-3064A>C (n.41-3064A>C) | |
19 | g.46704176T= | CA2339041863 | PRKD2 | c.882A= (p.Gln294=) c.411A= (p.Gln137=) c.41-3064A= (n.41-3064A=) | |
19 | g.46704177T>A | CA406488807 | PRKD2 | c.881A>T (p.Gln294Leu) c.410A>T (p.Gln137Leu) c.41-3065A>T (n.41-3065A>T) | |
19 | g.46704177T>C | CA406488808 | PRKD2 | c.881A>G (p.Gln294Arg) c.410A>G (p.Gln137Arg) c.41-3065A>G (n.41-3065A>G) | |
19 | g.46704177T>G | CA406488809 | PRKD2 | c.881A>C (p.Gln294Pro) c.410A>C (p.Gln137Pro) c.41-3065A>C (n.41-3065A>C) | |
19 | g.46704178G>A | CA406488810 | PRKD2 | c.880C>T (p.Gln294Ter) c.409C>T (p.Gln137Ter) c.41-3066C>T (n.41-3066C>T) | |
19 | g.46704178G>C | CA406488811 | PRKD2 | c.880C>G (p.Gln294Glu) c.409C>G (p.Gln137Glu) c.41-3066C>G (n.41-3066C>G) | |
19 | g.46704178G>T | CA406488812 | PRKD2 | c.880C>A (p.Gln294Lys) c.409C>A (p.Gln137Lys) c.41-3066C>A (n.41-3066C>A) | |
19 | g.46704179C>A | CA507974772 | PRKD2 | c.879G>T (p.Leu293=) c.408G>T (p.Leu136=) c.41-3067G>T (n.41-3067G>T) | |
19 | g.46704179C= | CA2339041864 | PRKD2 | c.879G= (p.Leu293=) c.408G= (p.Leu136=) c.41-3067G= (n.41-3067G=) | |
19 | g.46704179C>G | CA507974773 | PRKD2 | c.879G>C (p.Leu293=) c.408G>C (p.Leu136=) c.41-3067G>C (n.41-3067G>C) | |
19 | g.46704179C>T | CA507974774 | PRKD2 | c.879G>A (p.Leu293=) c.408G>A (p.Leu136=) c.41-3067G>A (n.41-3067G>A) | dbSNP |
19 | g.46704180A>C | CA406488813 | PRKD2 | c.878T>G (p.Leu293Arg) c.407T>G (p.Leu136Arg) c.41-3068T>G (n.41-3068T>G) | |
19 | g.46704180A>G | CA406488814 | PRKD2 | c.878T>C (p.Leu293Pro) c.407T>C (p.Leu136Pro) c.41-3068T>C (n.41-3068T>C) | COSMIC |
19 | g.46704180A>T | CA406488815 | PRKD2 | c.878T>A (p.Leu293Gln) c.407T>A (p.Leu136Gln) c.41-3068T>A (n.41-3068T>A) | |
19 | g.46704181G>A | CA507974776 | PRKD2 | c.877C>T (p.Leu293=) c.406C>T (p.Leu136=) c.41-3069C>T (n.41-3069C>T) | |
19 | g.46704181G>C | CA406488817 | PRKD2 | c.877C>G (p.Leu293Val) c.406C>G (p.Leu136Val) c.41-3069C>G (n.41-3069C>G) | |
19 | g.46704181G>T | CA406488816 | PRKD2 | c.877C>A (p.Leu293Met) c.406C>A (p.Leu136Met) c.41-3069C>A (n.41-3069C>A) | |
19 | g.46704182G>A | CA507974777 | PRKD2 | c.876C>T (p.Gly292=) c.405C>T (p.Gly135=) c.41-3070C>T (n.41-3070C>T) | gnomAD v4 |
19 | g.46704182G>C | CA507974778 | PRKD2 | c.876C>G (p.Gly292=) c.405C>G (p.Gly135=) c.41-3070C>G (n.41-3070C>G) | |
19 | g.46704182G>T | CA507974779 | PRKD2 | c.876C>A (p.Gly292=) c.405C>A (p.Gly135=) c.41-3070C>A (n.41-3070C>A) | gnomAD v4 |
19 | g.46704183C>A | CA406488818 | PRKD2 | c.875G>T (p.Gly292Val) c.404G>T (p.Gly135Val) c.41-3071G>T (n.41-3071G>T) | |
19 | g.46704183C>G | CA406488820 | PRKD2 | c.875G>C (p.Gly292Ala) c.404G>C (p.Gly135Ala) c.41-3071G>C (n.41-3071G>C) | |
19 | g.46704183C>T | CA406488819 | PRKD2 | c.875G>A (p.Gly292Asp) c.404G>A (p.Gly135Asp) c.41-3071G>A (n.41-3071G>A) | |
19 | g.46704185del | CA2585971175 | PRKD2 | c.875del (p.Gly292AlafsTer?) c.404del (p.Gly135AlafsTer?) c.41-3071del (n.41-3071del) | gnomAD v4 |
19 | g.46704184C>A | CA406488821 | PRKD2 | c.874G>T (p.Gly292Cys) c.403G>T (p.Gly135Cys) c.41-3072G>T (n.41-3072G>T) | |
19 | g.46704184C>G | CA406488823 | PRKD2 | c.874G>C (p.Gly292Arg) c.403G>C (p.Gly135Arg) c.41-3072G>C (n.41-3072G>C) | |
19 | g.46704184C>T | CA406488822 | PRKD2 | c.874G>A (p.Gly292Ser) c.403G>A (p.Gly135Ser) c.41-3072G>A (n.41-3072G>A) | |
19 | g.46704185C>A | CA406488824 | PRKD2 | c.873G>T (p.Gln291His) c.402G>T (p.Gln134His) c.41-3073G>T (n.41-3073G>T) | |
19 | g.46704185C>G | CA406488825 | PRKD2 | c.873G>C (p.Gln291His) c.402G>C (p.Gln134His) c.41-3073G>C (n.41-3073G>C) | |
19 | g.46704185C>T | CA507974782 | PRKD2 | c.873G>A (p.Gln291=) c.402G>A (p.Gln134=) c.41-3073G>A (n.41-3073G>A) | |
19 | g.46704186T>A | CA406488826 | PRKD2 | c.872A>T (p.Gln291Leu) c.401A>T (p.Gln134Leu) c.41-3074A>T (n.41-3074A>T) | |
19 | g.46704186T>C | CA406488828 | PRKD2 | c.872A>G (p.Gln291Arg) c.401A>G (p.Gln134Arg) c.41-3074A>G (n.41-3074A>G) | |
19 | g.46704186T>G | CA406488827 | PRKD2 | c.872A>C (p.Gln291Pro) c.401A>C (p.Gln134Pro) c.41-3074A>C (n.41-3074A>C) | dbSNP gnomAD v4 |
19 | g.46704186T= | CA2339041865 | PRKD2 | c.872A= (p.Gln291=) c.401A= (p.Gln134=) c.41-3074A= (n.41-3074A=) | |
19 | g.46704187G>A | CA406488829 | PRKD2 | c.871C>T (p.Gln291Ter) c.400C>T (p.Gln134Ter) c.41-3075C>T (n.41-3075C>T) | |
19 | g.46704187G>C | CA406488831 | PRKD2 | c.871C>G (p.Gln291Glu) c.400C>G (p.Gln134Glu) c.41-3075C>G (n.41-3075C>G) | |
19 | g.46704187G>T | CA406488830 | PRKD2 | c.871C>A (p.Gln291Lys) c.400C>A (p.Gln134Lys) c.41-3075C>A (n.41-3075C>A) | |
19 | g.46704188C>A | CA507974787 | PRKD2 | c.870G>T (p.Arg290=) c.399G>T (p.Arg133=) c.41-3076G>T (n.41-3076G>T) | |
19 | g.46704188C>G | CA507974786 | PRKD2 | c.870G>C (p.Arg290=) c.399G>C (p.Arg133=) c.41-3076G>C (n.41-3076G>C) | |
19 | g.46704188C>T | CA507974785 | PRKD2 | c.870G>A (p.Arg290=) c.399G>A (p.Arg133=) c.41-3076G>A (n.41-3076G>A) | |
19 | g.46704189C>A | CA406488832 | PRKD2 | c.869G>T (p.Arg290Leu) c.398G>T (p.Arg133Leu) c.41-3077G>T (n.41-3077G>T) | gnomAD v4 |
19 | g.46704189C= | CA2339041866 | PRKD2 | c.869G= (p.Arg290=) c.398G= (p.Arg133=) c.41-3077G= (n.41-3077G=) | |
19 | g.46704189C>G | CA406488833 | PRKD2 | c.869G>C (p.Arg290Pro) c.398G>C (p.Arg133Pro) c.41-3077G>C (n.41-3077G>C) | |
19 | g.46704189C>T | CA406488834 | PRKD2 | c.869G>A (p.Arg290Gln) c.398G>A (p.Arg133Gln) c.41-3077G>A (n.41-3077G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.46704190G>A | CA406488835 | PRKD2 | c.868C>T (p.Arg290Trp) c.397C>T (p.Arg133Trp) c.41-3078C>T (n.41-3078C>T) | |
19 | g.46704190G>C | CA406488836 | PRKD2 | c.868C>G (p.Arg290Gly) c.397C>G (p.Arg133Gly) c.41-3078C>G (n.41-3078C>G) | |
19 | g.46704190G= | CA2339041867 | PRKD2 | c.868C= (p.Arg290=) c.397C= (p.Arg133=) c.41-3078C= (n.41-3078C=) | |
19 | g.46704190G>T | CA9531033 | PRKD2 | c.868C>A (p.Arg290=) c.397C>A (p.Arg133=) c.41-3078C>A (n.41-3078C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.46704191G>A | CA507974788 | PRKD2 | c.867C>T (p.Phe289=) c.396C>T (p.Phe132=) c.41-3079C>T (n.41-3079C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.46704191G>C | CA406488837 | PRKD2 | c.867C>G (p.Phe289Leu) c.396C>G (p.Phe132Leu) c.41-3079C>G (n.41-3079C>G) | |
19 | g.46704191G= | CA2339041868 | PRKD2 | c.867C= (p.Phe289=) c.396C= (p.Phe132=) c.41-3079C= (n.41-3079C=) | |
19 | g.46704191G>T | CA406488838 | PRKD2 | c.867C>A (p.Phe289Leu) c.396C>A (p.Phe132Leu) c.41-3079C>A (n.41-3079C>A) | |
19 | g.46704192A>C | CA406488839 | PRKD2 | c.866T>G (p.Phe289Cys) c.395T>G (p.Phe132Cys) c.41-3080T>G (n.41-3080T>G) | |
19 | g.46704192A>G | CA406488840 | PRKD2 | c.866T>C (p.Phe289Ser) c.395T>C (p.Phe132Ser) c.41-3080T>C (n.41-3080T>C) | |
19 | g.46704192A>T | CA406488841 | PRKD2 | c.866T>A (p.Phe289Tyr) c.395T>A (p.Phe132Tyr) c.41-3080T>A (n.41-3080T>A) | |
19 | g.46704193A>C | CA406488842 | PRKD2 | c.865T>G (p.Phe289Val) c.394T>G (p.Phe132Val) c.41-3081T>G (n.41-3081T>G) | |
19 | g.46704193A>G | CA406488844 | PRKD2 | c.865T>C (p.Phe289Leu) c.394T>C (p.Phe132Leu) c.41-3081T>C (n.41-3081T>C) | |
19 | g.46704193A>T | CA406488843 | PRKD2 | c.865T>A (p.Phe289Ile) c.394T>A (p.Phe132Ile) c.41-3081T>A (n.41-3081T>A) | |
19 | g.46704194G>A | CA507974789 | PRKD2 | c.864C>T (p.Leu288=) c.393C>T (p.Leu131=) c.41-3082C>T (n.41-3082C>T) | |
19 | g.46704194G>C | CA507974790 | PRKD2 | c.864C>G (p.Leu288=) c.393C>G (p.Leu131=) c.41-3082C>G (n.41-3082C>G) | |
19 | g.46704194G= | CA2339041869 | PRKD2 | c.864C= (p.Leu288=) c.393C= (p.Leu131=) c.41-3082C= (n.41-3082C=) | |
19 | g.46704194G>T | CA507974791 | PRKD2 | c.864C>A (p.Leu288=) c.393C>A (p.Leu131=) c.41-3082C>A (n.41-3082C>A) | dbSNP |
19 | g.46704195A>C | CA406488845 | PRKD2 | c.863T>G (p.Leu288Arg) c.392T>G (p.Leu131Arg) c.41-3083T>G (n.41-3083T>G) | |
19 | g.46704195A>G | CA406488846 | PRKD2 | c.863T>C (p.Leu288Pro) c.392T>C (p.Leu131Pro) c.41-3083T>C (n.41-3083T>C) | |
19 | g.46704195A>T | CA406488847 | PRKD2 | c.863T>A (p.Leu288His) c.392T>A (p.Leu131His) c.41-3083T>A (n.41-3083T>A) | |
19 | g.46704196G>A | CA406488848 | PRKD2 | c.862C>T (p.Leu288Phe) c.391C>T (p.Leu131Phe) c.41-3084C>T (n.41-3084C>T) | |
19 | g.46704196G>C | CA406488849 | PRKD2 | c.862C>G (p.Leu288Val) c.391C>G (p.Leu131Val) c.41-3084C>G (n.41-3084C>G) | |
19 | g.46704196G>T | CA406488850 | PRKD2 | c.862C>A (p.Leu288Ile) c.391C>A (p.Leu131Ile) c.41-3084C>A (n.41-3084C>A) | |
19 | g.46704197G>A | CA507974792 | PRKD2 | c.861C>T (p.Gly287=) c.390C>T (p.Gly130=) c.41-3085C>T (n.41-3085C>T) | |
19 | g.46704197G>C | CA507974793 | PRKD2 | c.861C>G (p.Gly287=) c.390C>G (p.Gly130=) c.41-3085C>G (n.41-3085C>G) | |
19 | g.46704197G>T | CA507974794 | PRKD2 | c.861C>A (p.Gly287=) c.390C>A (p.Gly130=) c.41-3085C>A (n.41-3085C>A) | |
19 | g.46704198C>A | CA406488851 | PRKD2 | c.860G>T (p.Gly287Val) c.389G>T (p.Gly130Val) c.41-3086G>T (n.41-3086G>T) | |
19 | g.46704198C>G | CA406488852 | PRKD2 | c.860G>C (p.Gly287Ala) c.389G>C (p.Gly130Ala) c.41-3086G>C (n.41-3086G>C) | |
19 | g.46704198C>T | CA406488853 | PRKD2 | c.860G>A (p.Gly287Asp) c.389G>A (p.Gly130Asp) c.41-3086G>A (n.41-3086G>A) | |
19 | g.46704199C>A | CA406488855 | PRKD2 | c.859G>T (p.Gly287Cys) c.388G>T (p.Gly130Cys) c.41-3087G>T (n.41-3087G>T) | |
19 | g.46704199C>G | CA406488856 | PRKD2 | c.859G>C (p.Gly287Arg) c.388G>C (p.Gly130Arg) c.41-3087G>C (n.41-3087G>C) | |
19 | g.46704199C>T | CA406488854 | PRKD2 | c.859G>A (p.Gly287Ser) c.388G>A (p.Gly130Ser) c.41-3087G>A (n.41-3087G>A) | |
19 | g.46704200C>A | CA406488857 | PRKD2 | c.858G>T (p.Lys286Asn) c.387G>T (p.Lys129Asn) c.41-3088G>T (n.41-3088G>T) | |
19 | g.46704200C>G | CA406488858 | PRKD2 | c.858G>C (p.Lys286Asn) c.387G>C (p.Lys129Asn) c.41-3088G>C (n.41-3088G>C) | |
19 | g.46704200C>T | CA507974795 | PRKD2 | c.858G>A (p.Lys286=) c.387G>A (p.Lys129=) c.41-3088G>A (n.41-3088G>A) | |
19 | g.46704201T>A | CA406488859 | PRKD2 | c.857A>T (p.Lys286Met) c.386A>T (p.Lys129Met) c.41-3089A>T (n.41-3089A>T) | |
19 | g.46704201T>C | CA406488860 | PRKD2 | c.857A>G (p.Lys286Arg) c.386A>G (p.Lys129Arg) c.41-3089A>G (n.41-3089A>G) | |
19 | g.46704201T>G | CA406488861 | PRKD2 | c.857A>C (p.Lys286Thr) c.386A>C (p.Lys129Thr) c.41-3089A>C (n.41-3089A>C) | |
19 | g.46704202T>A | CA406488862 | PRKD2 | c.856A>T (p.Lys286Ter) c.385A>T (p.Lys129Ter) c.41-3090A>T (n.41-3090A>T) | |
19 | g.46704202T>C | CA406488863 | PRKD2 | c.856A>G (p.Lys286Glu) c.385A>G (p.Lys129Glu) c.41-3090A>G (n.41-3090A>G) | gnomAD v4 |
19 | g.46704202T>G | CA406488864 | PRKD2 | c.856A>C (p.Lys286Gln) c.385A>C (p.Lys129Gln) c.41-3090A>C (n.41-3090A>C) | |
19 | g.46704203G>A | CA507974796 | PRKD2 | c.855C>T (p.Leu285=) c.384C>T (p.Leu128=) c.41-3091C>T (n.41-3091C>T) | gnomAD v4 |
19 | g.46704203G>C | CA507974797 | PRKD2 | c.855C>G (p.Leu285=) c.384C>G (p.Leu128=) c.41-3091C>G (n.41-3091C>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.46704203G= | CA2339041870 | PRKD2 | c.855C= (p.Leu285=) c.384C= (p.Leu128=) c.41-3091C= (n.41-3091C=) | |
19 | g.46704203G>T | CA507974798 | PRKD2 | c.855C>A (p.Leu285=) c.384C>A (p.Leu128=) c.41-3091C>A (n.41-3091C>A) | |
19 | g.46704204A>C | CA406488865 | PRKD2 | c.854T>G (p.Leu285Arg) c.383T>G (p.Leu128Arg) c.41-3092T>G (n.41-3092T>G) | |
19 | g.46704204A>G | CA406488866 | PRKD2 | c.854T>C (p.Leu285Pro) c.383T>C (p.Leu128Pro) c.41-3092T>C (n.41-3092T>C) | |
19 | g.46704204A>T | CA406488867 | PRKD2 | c.854T>A (p.Leu285His) c.383T>A (p.Leu128His) c.41-3092T>A (n.41-3092T>A) | |
19 | g.46704205G>A | CA406488869 | PRKD2 | c.853C>T (p.Leu285Phe) c.382C>T (p.Leu128Phe) c.41-3093C>T (n.41-3093C>T) | |
19 | g.46704205G>C | CA406488870 | PRKD2 | c.853C>G (p.Leu285Val) c.382C>G (p.Leu128Val) c.41-3093C>G (n.41-3093C>G) | |
19 | g.46704205G>T | CA406488868 | PRKD2 | c.853C>A (p.Leu285Ile) c.382C>A (p.Leu128Ile) c.41-3093C>A (n.41-3093C>A) | |
19 | g.46704206G>A | CA507974799 | PRKD2 | c.852C>T (p.Leu284=) c.381C>T (p.Leu127=) c.41-3094C>T (n.41-3094C>T) | |
19 | g.46704206G>C | CA507974800 | PRKD2 | c.852C>G (p.Leu284=) c.381C>G (p.Leu127=) c.41-3094C>G (n.41-3094C>G) | |
19 | g.46704206G= | CA2339041871 | PRKD2 | c.852C= (p.Leu284=) c.381C= (p.Leu127=) c.41-3094C= (n.41-3094C=) | |
19 | g.46704206G>T | CA309105268 | PRKD2 | c.852C>A (p.Leu284=) c.381C>A (p.Leu127=) c.41-3094C>A (n.41-3094C>A) | dbSNP gnomAD v4 |
19 | g.46704207A>C | CA406488871 | PRKD2 | c.851T>G (p.Leu284Arg) c.380T>G (p.Leu127Arg) c.41-3095T>G (n.41-3095T>G) | |
19 | g.46704207A>G | CA406488872 | PRKD2 | c.851T>C (p.Leu284Pro) c.380T>C (p.Leu127Pro) c.41-3095T>C (n.41-3095T>C) | |
19 | g.46704207A>T | CA406488873 | PRKD2 | c.851T>A (p.Leu284His) c.380T>A (p.Leu127His) c.41-3095T>A (n.41-3095T>A) | |
19 | g.46704208G>A | CA406488874 | PRKD2 | c.850C>T (p.Leu284Phe) c.379C>T (p.Leu127Phe) c.41-3096C>T (n.41-3096C>T) | dbSNP |
19 | g.46704208G>C | CA406488875 | PRKD2 | c.850C>G (p.Leu284Val) c.379C>G (p.Leu127Val) c.41-3096C>G (n.41-3096C>G) | |
19 | g.46704208G= | CA2339041872 | PRKD2 | c.850C= (p.Leu284=) c.379C= (p.Leu127=) c.41-3096C= (n.41-3096C=) | |
19 | g.46704208G>T | CA406488876 | PRKD2 | c.850C>A (p.Leu284Ile) c.379C>A (p.Leu127Ile) c.41-3096C>A (n.41-3096C>A) | |
19 | g.46704209T>A | CA406488877 | PRKD2 | c.849A>T (p.Lys283Asn) c.378A>T (p.Lys126Asn) c.41-3097A>T (n.41-3097A>T) | |
19 | g.46704209T>C | CA507974801 | PRKD2 | c.849A>G (p.Lys283=) c.378A>G (p.Lys126=) c.41-3097A>G (n.41-3097A>G) | |
19 | g.46704209T>G | CA406488878 | PRKD2 | c.849A>C (p.Lys283Asn) c.378A>C (p.Lys126Asn) c.41-3097A>C (n.41-3097A>C) | gnomAD v3 gnomAD v4 |
19 | g.46704210T>A | CA406488879 | PRKD2 | c.848A>T (p.Lys283Ile) c.377A>T (p.Lys126Ile) c.41-3098A>T (n.41-3098A>T) | |
19 | g.46704210T>C | CA406488880 | PRKD2 | c.848A>G (p.Lys283Arg) c.377A>G (p.Lys126Arg) c.41-3098A>G (n.41-3098A>G) | |
19 | g.46704210T>G | CA406488881 | PRKD2 | c.848A>C (p.Lys283Thr) c.377A>C (p.Lys126Thr) c.41-3098A>C (n.41-3098A>C) | |
19 | g.46704211T>A | CA406488882 | PRKD2 | c.847A>T (p.Lys283Ter) c.376A>T (p.Lys126Ter) c.41-3099A>T (n.41-3099A>T) | |
19 | g.46704211T>C | CA406488883 | PRKD2 | c.847A>G (p.Lys283Glu) c.376A>G (p.Lys126Glu) c.41-3099A>G (n.41-3099A>G) | |
19 | g.46704211T>G | CA406488884 | PRKD2 | c.847A>C (p.Lys283Gln) c.376A>C (p.Lys126Gln) c.41-3099A>C (n.41-3099A>C) | |
19 | g.46704212C>A | CA406488885 | PRKD2 | c.846G>T (p.Lys282Asn) c.375G>T (p.Lys125Asn) c.41-3100G>T (n.41-3100G>T) | gnomAD v4 |
19 | g.46704212C>G | CA406488886 | PRKD2 | c.846G>C (p.Lys282Asn) c.375G>C (p.Lys125Asn) c.41-3100G>C (n.41-3100G>C) | |
19 | g.46704212C>T | CA507974802 | PRKD2 | c.846G>A (p.Lys282=) c.375G>A (p.Lys125=) c.41-3100G>A (n.41-3100G>A) | |
19 | g.46704213T>A | CA406488887 | PRKD2 | c.845A>T (p.Lys282Met) c.374A>T (p.Lys125Met) c.41-3101A>T (n.41-3101A>T) | |
19 | g.46704213T>C | CA406488889 | PRKD2 | c.845A>G (p.Lys282Arg) c.374A>G (p.Lys125Arg) c.41-3101A>G (n.41-3101A>G) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.46704213T>G | CA406488888 | PRKD2 | c.845A>C (p.Lys282Thr) c.374A>C (p.Lys125Thr) c.41-3101A>C (n.41-3101A>C) | |
19 | g.46704213T= | CA2339041873 | PRKD2 | c.845A= (p.Lys282=) c.374A= (p.Lys125=) c.41-3101A= (n.41-3101A=) | |
19 | g.46704214dup | CA2838557826 | PRKD2 | c.845dup (p.Lys283GlufsTer19) c.374dup (p.Lys126GlufsTer19) c.41-3101dup (n.41-3101dup) | |
19 | g.46704214T>A | CA406488890 | PRKD2 | c.844A>T (p.Lys282Ter) c.373A>T (p.Lys125Ter) c.41-3102A>T (n.41-3102A>T) | |
19 | g.46704214T>C | CA406488891 | PRKD2 | c.844A>G (p.Lys282Glu) c.373A>G (p.Lys125Glu) c.41-3102A>G (n.41-3102A>G) | |
19 | g.46704214T>G | CA406488892 | PRKD2 | c.844A>C (p.Lys282Gln) c.373A>C (p.Lys125Gln) c.41-3102A>C (n.41-3102A>C) | |
19 | g.46704215G>A | CA507974803 | PRKD2 | c.843C>T (p.Cys281=) c.372C>T (p.Cys124=) c.41-3103C>T (n.41-3103C>T) | |
19 | g.46704215G>C | CA406488893 | PRKD2 | c.843C>G (p.Cys281Trp) c.372C>G (p.Cys124Trp) c.41-3103C>G (n.41-3103C>G) | |
19 | g.46704215G>T | CA406488894 | PRKD2 | c.843C>A (p.Cys281Ter) c.372C>A (p.Cys124Ter) c.41-3103C>A (n.41-3103C>A) | |
19 | g.46704216C>A | CA406488895 | PRKD2 | c.842G>T (p.Cys281Phe) c.371G>T (p.Cys124Phe) c.41-3104G>T (n.41-3104G>T) | |
19 | g.46704216C>G | CA406488896 | PRKD2 | c.842G>C (p.Cys281Ser) c.371G>C (p.Cys124Ser) c.41-3104G>C (n.41-3104G>C) | |
19 | g.46704216C>T | CA406488897 | PRKD2 | c.842G>A (p.Cys281Tyr) c.371G>A (p.Cys124Tyr) c.41-3104G>A (n.41-3104G>A) | |
19 | g.46704217A>C | CA406488898 | PRKD2 | c.841T>G (p.Cys281Gly) c.370T>G (p.Cys124Gly) c.41-3105T>G (n.41-3105T>G) | |
19 | g.46704217A>G | CA406488899 | PRKD2 | c.841T>C (p.Cys281Arg) c.370T>C (p.Cys124Arg) c.41-3105T>C (n.41-3105T>C) | |
19 | g.46704217A>T | CA406488900 | PRKD2 | c.841T>A (p.Cys281Ser) c.370T>A (p.Cys124Ser) c.41-3105T>A (n.41-3105T>A) | |
19 | g.46704218A= | CA2339041874 | PRKD2 | c.840T= (p.Ala280=) c.369T= (p.Ala123=) c.41-3106T= (n.41-3106T=) | |
19 | g.46704218A>C | CA507974804 | PRKD2 | c.840T>G (p.Ala280=) c.369T>G (p.Ala123=) c.41-3106T>G (n.41-3106T>G) | |
19 | g.46704218A>G | CA507974805 | PRKD2 | c.840T>C (p.Ala280=) c.369T>C (p.Ala123=) c.41-3106T>C (n.41-3106T>C) | |
19 | g.46704218A>T | CA507974806 | PRKD2 | c.840T>A (p.Ala280=) c.369T>A (p.Ala123=) c.41-3106T>A (n.41-3106T>A) | dbSNP |
19 | g.46704219G>A | CA406488903 | PRKD2 | c.839C>T (p.Ala280Val) c.368C>T (p.Ala123Val) c.41-3107C>T (n.41-3107C>T) | |
19 | g.46704219G>C | CA406488901 | PRKD2 | c.839C>G (p.Ala280Gly) c.368C>G (p.Ala123Gly) c.41-3107C>G (n.41-3107C>G) | |
19 | g.46704219G>T | CA406488902 | PRKD2 | c.839C>A (p.Ala280Asp) c.368C>A (p.Ala123Asp) c.41-3107C>A (n.41-3107C>A) | |
19 | g.46704220C>A | CA406488904 | PRKD2 | c.838G>T (p.Ala280Ser) c.367G>T (p.Ala123Ser) c.41-3108G>T (n.41-3108G>T) | gnomAD v4 |
19 | g.46704220C>G | CA406488905 | PRKD2 | c.838G>C (p.Ala280Pro) c.367G>C (p.Ala123Pro) c.41-3108G>C (n.41-3108G>C) | |
19 | g.46704220C>T | CA406488906 | PRKD2 | c.838G>A (p.Ala280Thr) c.367G>A (p.Ala123Thr) c.41-3108G>A (n.41-3108G>A) | |
19 | g.46704221C>A | CA406488907 | PRKD2 | c.837G>T (p.Gln279His) c.366G>T (p.Gln122His) c.41-3109G>T (n.41-3109G>T) | |
19 | g.46704221C>G | CA406488908 | PRKD2 | c.837G>C (p.Gln279His) c.366G>C (p.Gln122His) c.41-3109G>C (n.41-3109G>C) | |
19 | g.46704221C>T | CA507974807 | PRKD2 | c.837G>A (p.Gln279=) c.366G>A (p.Gln122=) c.41-3109G>A (n.41-3109G>A) | |
19 | g.46704222T>A | CA406488909 | PRKD2 | c.836A>T (p.Gln279Leu) c.365A>T (p.Gln122Leu) c.41-3110A>T (n.41-3110A>T) | |
19 | g.46704222T>C | CA406488910 | PRKD2 | c.836A>G (p.Gln279Arg) c.365A>G (p.Gln122Arg) c.41-3110A>G (n.41-3110A>G) | |
19 | g.46704222T>G | CA406488911 | PRKD2 | c.836A>C (p.Gln279Pro) c.365A>C (p.Gln122Pro) c.41-3110A>C (n.41-3110A>C) | |
19 | g.46704223G>A | CA406488912 | PRKD2 | c.835C>T (p.Gln279Ter) c.364C>T (p.Gln122Ter) c.41-3111C>T (n.41-3111C>T) | |
19 | g.46704223G>C | CA406488913 | PRKD2 | c.835C>G (p.Gln279Glu) c.364C>G (p.Gln122Glu) c.41-3111C>G (n.41-3111C>G) | gnomAD v4 |
19 | g.46704223G>T | CA406488914 | PRKD2 | c.835C>A (p.Gln279Lys) c.364C>A (p.Gln122Lys) c.41-3111C>A (n.41-3111C>A) | |
19 | g.46704224G>A | CA507974808 | PRKD2 | c.834C>T (p.Cys278=) c.363C>T (p.Cys121=) c.41-3112C>T (n.41-3112C>T) | |
19 | g.46704224G>C | CA406488916 | PRKD2 | c.834C>G (p.Cys278Trp) c.363C>G (p.Cys121Trp) c.41-3112C>G (n.41-3112C>G) | |
19 | g.46704224G>T | CA406488915 | PRKD2 | c.834C>A (p.Cys278Ter) c.363C>A (p.Cys121Ter) c.41-3112C>A (n.41-3112C>A) | |
19 | g.46704225C>A | CA406488917 | PRKD2 | c.833G>T (p.Cys278Phe) c.362G>T (p.Cys121Phe) c.41-3113G>T (n.41-3113G>T) | |
19 | g.46704225C>G | CA406488918 | PRKD2 | c.833G>C (p.Cys278Ser) c.362G>C (p.Cys121Ser) c.41-3113G>C (n.41-3113G>C) | |
19 | g.46704225C>T | CA406488919 | PRKD2 | c.833G>A (p.Cys278Tyr) c.362G>A (p.Cys121Tyr) c.41-3113G>A (n.41-3113G>A) | |
19 | g.46704226A>C | CA406488920 | PRKD2 | c.832T>G (p.Cys278Gly) c.361T>G (p.Cys121Gly) c.41-3114T>G (n.41-3114T>G) | |
19 | g.46704226A>G | CA406488921 | PRKD2 | c.832T>C (p.Cys278Arg) c.361T>C (p.Cys121Arg) c.41-3114T>C (n.41-3114T>C) | |
19 | g.46704226A>T | CA406488922 | PRKD2 | c.832T>A (p.Cys278Ser) c.361T>A (p.Cys121Ser) c.41-3114T>A (n.41-3114T>A) | |
19 | g.46704227A>C | CA507974809 | PRKD2 | c.831T>G (p.Val277=) c.360T>G (p.Val120=) c.41-3115T>G (n.41-3115T>G) | |
19 | g.46704227A>G | CA507974810 | PRKD2 | c.831T>C (p.Val277=) c.360T>C (p.Val120=) c.41-3115T>C (n.41-3115T>C) | |
19 | g.46704227A>T | CA507974811 | PRKD2 | c.831T>A (p.Val277=) c.360T>A (p.Val120=) c.41-3115T>A (n.41-3115T>A) | |
19 | g.46704228A>C | CA406488923 | PRKD2 | c.830T>G (p.Val277Gly) c.359T>G (p.Val120Gly) c.41-3116T>G (n.41-3116T>G) | |
19 | g.46704228A>G | CA406488924 | PRKD2 | c.830T>C (p.Val277Ala) c.359T>C (p.Val120Ala) c.41-3116T>C (n.41-3116T>C) | |
19 | g.46704228A>T | CA406488925 | PRKD2 | c.830T>A (p.Val277Asp) c.359T>A (p.Val120Asp) c.41-3116T>A (n.41-3116T>A) | |
19 | g.46704229C>A | CA406488926 | PRKD2 | c.829G>T (p.Val277Phe) c.358G>T (p.Val120Phe) c.41-3117G>T (n.41-3117G>T) | |
19 | g.46704229C= | CA2339041875 | PRKD2 | c.829G= (p.Val277=) c.358G= (p.Val120=) c.41-3117G= (n.41-3117G=) | |
19 | g.46704229C>G | CA406488927 | PRKD2 | c.829G>C (p.Val277Leu) c.358G>C (p.Val120Leu) c.41-3117G>C (n.41-3117G>C) | |
19 | g.46704229C>T | CA406488928 | PRKD2 | c.829G>A (p.Val277Ile) c.358G>A (p.Val120Ile) c.41-3117G>A (n.41-3117G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.46704230G>A | CA507974814 | PRKD2 | c.828C>T (p.Thr276=) c.357C>T (p.Thr119=) c.41-3118C>T (n.41-3118C>T) | dbSNP gnomAD v4 |
19 | g.46704230G>C | CA507974813 | PRKD2 | c.828C>G (p.Thr276=) c.357C>G (p.Thr119=) c.41-3118C>G (n.41-3118C>G) | |
19 | g.46704230G= | CA2339041876 | PRKD2 | c.828C= (p.Thr276=) c.357C= (p.Thr119=) c.41-3118C= (n.41-3118C=) | |
19 | g.46704230G>T | CA507974812 | PRKD2 | c.828C>A (p.Thr276=) c.357C>A (p.Thr119=) c.41-3118C>A (n.41-3118C>A) | |
19 | g.46704231G>A | CA406488930 | PRKD2 | c.827C>T (p.Thr276Ile) c.356C>T (p.Thr119Ile) c.41-3119C>T (n.41-3119C>T) | |
19 | g.46704231G>C | CA406488931 | PRKD2 | c.827C>G (p.Thr276Ser) c.356C>G (p.Thr119Ser) c.41-3119C>G (n.41-3119C>G) | |
19 | g.46704231G>T | CA406488929 | PRKD2 | c.827C>A (p.Thr276Asn) c.356C>A (p.Thr119Asn) c.41-3119C>A (n.41-3119C>A) | |
19 | g.46704232T>A | CA406488932 | PRKD2 | c.826A>T (p.Thr276Ser) c.355A>T (p.Thr119Ser) c.41-3120A>T (n.41-3120A>T) | |
19 | g.46704232T>C | CA406488933 | PRKD2 | c.826A>G (p.Thr276Ala) c.355A>G (p.Thr119Ala) c.41-3120A>G (n.41-3120A>G) | |
19 | g.46704232T>G | CA406488934 | PRKD2 | c.826A>C (p.Thr276Pro) c.355A>C (p.Thr119Pro) c.41-3120A>C (n.41-3120A>C) | |
19 | g.46704233G>A | CA507974815 | PRKD2 | c.825C>T (p.Pro275=) c.354C>T (p.Pro118=) c.41-3121C>T (n.41-3121C>T) | |
19 | g.46704233G>C | CA507974816 | PRKD2 | c.825C>G (p.Pro275=) c.354C>G (p.Pro118=) c.41-3121C>G (n.41-3121C>G) | |
19 | g.46704233G>T | CA507974817 | PRKD2 | c.825C>A (p.Pro275=) c.354C>A (p.Pro118=) c.41-3121C>A (n.41-3121C>A) | |
19 | g.46704234G>A | CA406488935 | PRKD2 | c.824C>T (p.Pro275Leu) c.353C>T (p.Pro118Leu) c.41-3122C>T (n.41-3122C>T) | gnomAD v4 |
19 | g.46704234G>C | CA406488936 | PRKD2 | c.824C>G (p.Pro275Arg) c.353C>G (p.Pro118Arg) c.41-3122C>G (n.41-3122C>G) | |
19 | g.46704234G>T | CA406488937 | PRKD2 | c.824C>A (p.Pro275His) c.353C>A (p.Pro118His) c.41-3122C>A (n.41-3122C>A) | |
19 | g.46704235G>A | CA406488938 | PRKD2 | c.823C>T (p.Pro275Ser) c.352C>T (p.Pro118Ser) c.41-3123C>T (n.41-3123C>T) | |
19 | g.46704235G>C | CA406488940 | PRKD2 | c.823C>G (p.Pro275Ala) c.352C>G (p.Pro118Ala) c.41-3123C>G (n.41-3123C>G) | |
19 | g.46704235G>T | CA406488939 | PRKD2 | c.823C>A (p.Pro275Thr) c.352C>A (p.Pro118Thr) c.41-3123C>A (n.41-3123C>A) | |
19 | g.46704236C>A | CA507974818 | PRKD2 | c.822G>T (p.Arg274=) c.351G>T (p.Arg117=) c.41-3124G>T (n.41-3124G>T) | |
19 | g.46704236C>G | CA507974819 | PRKD2 | c.822G>C (p.Arg274=) c.351G>C (p.Arg117=) c.41-3124G>C (n.41-3124G>C) | |
19 | g.46704236C>T | CA507974820 | PRKD2 | c.822G>A (p.Arg274=) c.351G>A (p.Arg117=) c.41-3124G>A (n.41-3124G>A) | COSMIC |
19 | g.46704237C>A | CA406488941 | PRKD2 | c.821G>T (p.Arg274Leu) c.350G>T (p.Arg117Leu) c.41-3125G>T (n.41-3125G>T) | |
19 | g.46704237C= | CA2339041877 | PRKD2 | c.821G= (p.Arg274=) c.350G= (p.Arg117=) c.41-3125G= (n.41-3125G=) | |
19 | g.46704237C>G | CA406488942 | PRKD2 | c.821G>C (p.Arg274Pro) c.350G>C (p.Arg117Pro) c.41-3125G>C (n.41-3125G>C) | |
19 | g.46704237C>T | CA406488943 | PRKD2 | c.821G>A (p.Arg274Gln) c.350G>A (p.Arg117Gln) c.41-3125G>A (n.41-3125G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.46704238G>A | CA406488944 | PRKD2 | c.820C>T (p.Arg274Trp) c.349C>T (p.Arg117Trp) c.41-3126C>T (n.41-3126C>T) | |
19 | g.46704238G>C | CA406488945 | PRKD2 | c.820C>G (p.Arg274Gly) c.349C>G (p.Arg117Gly) c.41-3126C>G (n.41-3126C>G) | |
19 | g.46704238G= | CA2339041878 | PRKD2 | c.820C= (p.Arg274=) c.349C= (p.Arg117=) c.41-3126C= (n.41-3126C=) | |
19 | g.46704238G>T | CA507974821 | PRKD2 | c.820C>A (p.Arg274=) c.349C>A (p.Arg117=) c.41-3126C>A (n.41-3126C>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.46704239T>A | CA9531035 | PRKD2 | c.819A>T (p.Thr273=) c.348A>T (p.Thr116=) c.41-3127A>T (n.41-3127A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.46704239T>C | CA9531034 | PRKD2 | c.819A>G (p.Thr273=) c.348A>G (p.Thr116=) c.41-3127A>G (n.41-3127A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.46704239T>G | CA507974822 | PRKD2 | c.819A>C (p.Thr273=) c.348A>C (p.Thr116=) c.41-3127A>C (n.41-3127A>C) | |
19 | g.46704239T= | CA2339041879 | PRKD2 | c.819A= (p.Thr273=) c.348A= (p.Thr116=) c.41-3127A= (n.41-3127A=) | |
19 | g.46704240G>A | CA406488946 | PRKD2 | c.818C>T (p.Thr273Ile) c.347C>T (p.Thr116Ile) c.41-3128C>T (n.41-3128C>T) | |
19 | g.46704240G>C | CA406488948 | PRKD2 | c.818C>G (p.Thr273Arg) c.347C>G (p.Thr116Arg) c.41-3128C>G (n.41-3128C>G) | |
19 | g.46704240G>T | CA406488947 | PRKD2 | c.818C>A (p.Thr273Lys) c.347C>A (p.Thr116Lys) c.41-3128C>A (n.41-3128C>A) | |
19 | g.46704241T>A | CA406488949 | PRKD2 | c.817A>T (p.Thr273Ser) c.346A>T (p.Thr116Ser) c.41-3129A>T (n.41-3129A>T) | |
19 | g.46704241T>C | CA406488950 | PRKD2 | c.817A>G (p.Thr273Ala) c.346A>G (p.Thr116Ala) c.41-3129A>G (n.41-3129A>G) | gnomAD v4 |
19 | g.46704241T>G | CA406488951 | PRKD2 | c.817A>C (p.Thr273Pro) c.346A>C (p.Thr116Pro) c.41-3129A>C (n.41-3129A>C) | |
19 | g.46704242A>C | CA406488952 | PRKD2 | c.816T>G (p.Tyr272Ter) c.345T>G (p.Tyr115Ter) c.41-3130T>G (n.41-3130T>G) | |
19 | g.46704242A>G | CA507974823 | PRKD2 | c.816T>C (p.Tyr272=) c.345T>C (p.Tyr115=) c.41-3130T>C (n.41-3130T>C) | gnomAD v4 |
19 | g.46704242A>T | CA406488953 | PRKD2 | c.816T>A (p.Tyr272Ter) c.345T>A (p.Tyr115Ter) c.41-3130T>A (n.41-3130T>A) | |
19 | g.46704243T>A | CA406488954 | PRKD2 | c.815A>T (p.Tyr272Phe) c.344A>T (p.Tyr115Phe) c.41-3131A>T (n.41-3131A>T) | |
19 | g.46704243T>C | CA406488955 | PRKD2 | c.815A>G (p.Tyr272Cys) c.344A>G (p.Tyr115Cys) c.41-3131A>G (n.41-3131A>G) | |
19 | g.46704243T>G | CA406488956 | PRKD2 | c.815A>C (p.Tyr272Ser) c.344A>C (p.Tyr115Ser) c.41-3131A>C (n.41-3131A>C) | |
19 | g.46704244A>C | CA406488957 | PRKD2 | c.814T>G (p.Tyr272Asp) c.343T>G (p.Tyr115Asp) c.41-3132T>G (n.41-3132T>G) | |
19 | g.46704244A>G | CA406488958 | PRKD2 | c.814T>C (p.Tyr272His) c.343T>C (p.Tyr115His) c.41-3132T>C (n.41-3132T>C) | |
19 | g.46704244A>T | CA406488959 | PRKD2 | c.814T>A (p.Tyr272Asn) c.343T>A (p.Tyr115Asn) c.41-3132T>A (n.41-3132T>A) | |
19 | g.46704245G>A | CA507974824 | PRKD2 | c.813C>T (p.Ser271=) c.342C>T (p.Ser114=) c.41-3133C>T (n.41-3133C>T) | |
19 | g.46704245G>C | CA406488960 | PRKD2 | c.813C>G (p.Ser271Arg) c.342C>G (p.Ser114Arg) c.41-3133C>G (n.41-3133C>G) | |
19 | g.46704245G>T | CA406488961 | PRKD2 | c.813C>A (p.Ser271Arg) c.342C>A (p.Ser114Arg) c.41-3133C>A (n.41-3133C>A) | |
19 | g.46704246C>A | CA406488963 | PRKD2 | c.812G>T (p.Ser271Ile) c.341G>T (p.Ser114Ile) c.41-3134G>T (n.41-3134G>T) | |
19 | g.46704246C= | CA2339041880 | PRKD2 | c.812G= (p.Ser271=) c.341G= (p.Ser114=) c.41-3134G= (n.41-3134G=) | |
19 | g.46704246C>G | CA406488962 | PRKD2 | c.812G>C (p.Ser271Thr) c.341G>C (p.Ser114Thr) c.41-3134G>C (n.41-3134G>C) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.46704246C>T | CA309105275 | PRKD2 | c.812G>A (p.Ser271Asn) c.341G>A (p.Ser114Asn) c.41-3134G>A (n.41-3134G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.46704247T>A | CA406488964 | PRKD2 | c.811A>T (p.Ser271Cys) c.340A>T (p.Ser114Cys) c.41-3135A>T (n.41-3135A>T) | |
19 | g.46704247T>C | CA406488965 | PRKD2 | c.811A>G (p.Ser271Gly) c.340A>G (p.Ser114Gly) c.41-3135A>G (n.41-3135A>G) | gnomAD v4 |
19 | g.46704247T>G | CA406488966 | PRKD2 | c.811A>C (p.Ser271Arg) c.340A>C (p.Ser114Arg) c.41-3135A>C (n.41-3135A>C) | |
19 | g.46704248G>A | CA507974825 | PRKD2 | c.810C>T (p.His270=) c.339C>T (p.His113=) c.41-3136C>T (n.41-3136C>T) | |
19 | g.46704248G>C | CA9531036 | PRKD2 | c.810C>G (p.His270Gln) c.339C>G (p.His113Gln) c.41-3136C>G (n.41-3136C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.46704248G= | CA2339041881 | PRKD2 | c.810C= (p.His270=) c.339C= (p.His113=) c.41-3136C= (n.41-3136C=) | |
19 | g.46704248G>T | CA406488967 | PRKD2 | c.810C>A (p.His270Gln) c.339C>A (p.His113Gln) c.41-3136C>A (n.41-3136C>A) | |
19 | g.46704249T>A | CA406488968 | PRKD2 | c.809A>T (p.His270Leu) c.338A>T (p.His113Leu) c.41-3137A>T (n.41-3137A>T) | gnomAD v4 |
19 | g.46704249T>C | CA9531037 | PRKD2 | c.809A>G (p.His270Arg) c.338A>G (p.His113Arg) c.41-3137A>G (n.41-3137A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.46704249T>G | CA406488969 | PRKD2 | c.809A>C (p.His270Pro) c.338A>C (p.His113Pro) c.41-3137A>C (n.41-3137A>C) | |
19 | g.46704249T= | CA2339041882 | PRKD2 | c.809A= (p.His270=) c.338A= (p.His113=) c.41-3137A= (n.41-3137A=) | |
19 | g.46704250G>A | CA406488970 | PRKD2 | c.808C>T (p.His270Tyr) c.337C>T (p.His113Tyr) c.41-3138C>T (n.41-3138C>T) | |
19 | g.46704250G>C | CA406488971 | PRKD2 | c.808C>G (p.His270Asp) c.337C>G (p.His113Asp) c.41-3138C>G (n.41-3138C>G) | |
19 | g.46704250G>T | CA406488972 | PRKD2 | c.808C>A (p.His270Asn) c.337C>A (p.His113Asn) c.41-3138C>A (n.41-3138C>A) | |
19 | g.46704251G>A | CA507974826 | PRKD2 | c.807C>T (p.Ile269=) c.336C>T (p.Ile112=) c.41-3139C>T (n.41-3139C>T) | |
19 | g.46704251G>C | CA406488973 | PRKD2 | c.807C>G (p.Ile269Met) c.336C>G (p.Ile112Met) c.41-3139C>G (n.41-3139C>G) | |
19 | g.46704251G>T | CA507974827 | PRKD2 | c.807C>A (p.Ile269=) c.336C>A (p.Ile112=) c.41-3139C>A (n.41-3139C>A) | gnomAD v4 |
19 | g.46704252A>C | CA406488974 | PRKD2 | c.806T>G (p.Ile269Ser) c.335T>G (p.Ile112Ser) c.41-3140T>G (n.41-3140T>G) | |
19 | g.46704252A>G | CA406488976 | PRKD2 | c.806T>C (p.Ile269Thr) c.335T>C (p.Ile112Thr) c.41-3140T>C (n.41-3140T>C) | |
19 | g.46704252A>T | CA406488975 | PRKD2 | c.806T>A (p.Ile269Asn) c.335T>A (p.Ile112Asn) c.41-3140T>A (n.41-3140T>A) | |
19 | g.46704253T>A | CA406488977 | PRKD2 | c.805A>T (p.Ile269Phe) c.334A>T (p.Ile112Phe) c.41-3141A>T (n.41-3141A>T) | gnomAD v4 |
19 | g.46704253T>C | CA406488978 | PRKD2 | c.805A>G (p.Ile269Val) c.334A>G (p.Ile112Val) c.41-3141A>G (n.41-3141A>G) | dbSNP COSMIC |
19 | g.46704253T>G | CA406488979 | PRKD2 | c.805A>C (p.Ile269Leu) c.334A>C (p.Ile112Leu) c.41-3141A>C (n.41-3141A>C) | |
19 | g.46704253T= | CA2339041883 | PRKD2 | c.805A= (p.Ile269=) c.334A= (p.Ile112=) c.41-3141A= (n.41-3141A=) | |
19 | g.46704254G>A | CA507974828 | PRKD2 | c.804C>T (p.Leu268=) c.333C>T (p.Leu111=) c.41-3142C>T (n.41-3142C>T) | |
19 | g.46704254G>C | CA507974829 | PRKD2 | c.804C>G (p.Leu268=) c.333C>G (p.Leu111=) c.41-3142C>G (n.41-3142C>G) | |
19 | g.46704254G>T | CA507974830 | PRKD2 | c.804C>A (p.Leu268=) c.333C>A (p.Leu111=) c.41-3142C>A (n.41-3142C>A) | |
19 | g.46704255A>C | CA406488980 | PRKD2 | c.803T>G (p.Leu268Arg) c.332T>G (p.Leu111Arg) c.41-3143T>G (n.41-3143T>G) | |
19 | g.46704255A>G | CA406488981 | PRKD2 | c.803T>C (p.Leu268Pro) c.332T>C (p.Leu111Pro) c.41-3143T>C (n.41-3143T>C) | |
19 | g.46704255A>T | CA406488982 | PRKD2 | c.803T>A (p.Leu268His) c.332T>A (p.Leu111His) c.41-3143T>A (n.41-3143T>A) | gnomAD v4 |
19 | g.46704256G>A | CA406488983 | PRKD2 | c.802C>T (p.Leu268Phe) c.331C>T (p.Leu111Phe) c.41-3144C>T (n.41-3144C>T) | |
19 | g.46704256G>C | CA406488984 | PRKD2 | c.802C>G (p.Leu268Val) c.331C>G (p.Leu111Val) c.41-3144C>G (n.41-3144C>G) | |
19 | g.46704256G>T | CA406488985 | PRKD2 | c.802C>A (p.Leu268Ile) c.331C>A (p.Leu111Ile) c.41-3144C>A (n.41-3144C>A) | |
19 | g.46704257G>A | CA507974831 | PRKD2 | c.801C>T (p.Phe267=) c.330C>T (p.Phe110=) c.41-3145C>T (n.41-3145C>T) | gnomAD v4 |
19 | g.46704257G>C | CA406488986 | PRKD2 | c.801C>G (p.Phe267Leu) c.330C>G (p.Phe110Leu) c.41-3145C>G (n.41-3145C>G) | |
19 | g.46704257G>T | CA406488987 | PRKD2 | c.801C>A (p.Phe267Leu) c.330C>A (p.Phe110Leu) c.41-3145C>A (n.41-3145C>A) |