Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.46704276A>C | CA406489045 | PRKD2 | c.782T>G (p.Val261Gly) c.311T>G (p.Val104Gly) c.41-3164T>G (n.41-3164T>G) | |
19 | g.46704276A>G | CA406489047 | PRKD2 | c.782T>C (p.Val261Ala) c.311T>C (p.Val104Ala) c.41-3164T>C (n.41-3164T>C) | |
19 | g.46704276A>T | CA406489048 | PRKD2 | c.782T>A (p.Val261Asp) c.311T>A (p.Val104Asp) c.41-3164T>A (n.41-3164T>A) | |
19 | g.46704277C>A | CA406489050 | PRKD2 | c.781G>T (p.Val261Phe) c.310G>T (p.Val104Phe) c.41-3165G>T (n.41-3165G>T) | |
19 | g.46704277C>G | CA406489052 | PRKD2 | c.781G>C (p.Val261Leu) c.310G>C (p.Val104Leu) c.41-3165G>C (n.41-3165G>C) | |
19 | g.46704277C>T | CA406489054 | PRKD2 | c.781G>A (p.Val261Ile) c.310G>A (p.Val104Ile) c.41-3165G>A (n.41-3165G>A) | gnomAD v4 |
19 | g.46704278C>A | CA406489056 | PRKD2 | c.780G>T (p.Lys260Asn) c.309G>T (p.Lys103Asn) c.41-3166G>T (n.41-3166G>T) | dbSNP |
19 | g.46704278C= | CA2339041888 | PRKD2 | c.780G= (p.Lys260=) c.309G= (p.Lys103=) c.41-3166G= (n.41-3166G=) | |
19 | g.46704278C>G | CA406489057 | PRKD2 | c.780G>C (p.Lys260Asn) c.309G>C (p.Lys103Asn) c.41-3166G>C (n.41-3166G>C) | |
19 | g.46704278C>T | CA309105287 | PRKD2 | c.780G>A (p.Lys260=) c.309G>A (p.Lys103=) c.41-3166G>A (n.41-3166G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.46704279T>A | CA406489059 | PRKD2 | c.779A>T (p.Lys260Met) c.308A>T (p.Lys103Met) c.41-3167A>T (n.41-3167A>T) | |
19 | g.46704279T>C | CA406489060 | PRKD2 | c.779A>G (p.Lys260Arg) c.308A>G (p.Lys103Arg) c.41-3167A>G (n.41-3167A>G) | gnomAD v4 |
19 | g.46704279T>G | CA406489062 | PRKD2 | c.779A>C (p.Lys260Thr) c.308A>C (p.Lys103Thr) c.41-3167A>C (n.41-3167A>C) | |
19 | g.46704280T>A | CA406489064 | PRKD2 | c.778A>T (p.Lys260Ter) c.307A>T (p.Lys103Ter) c.41-3168A>T (n.41-3168A>T) | |
19 | g.46704280T>C | CA406489065 | PRKD2 | c.778A>G (p.Lys260Glu) c.307A>G (p.Lys103Glu) c.41-3168A>G (n.41-3168A>G) | |
19 | g.46704280T>G | CA406489067 | PRKD2 | c.778A>C (p.Lys260Gln) c.307A>C (p.Lys103Gln) c.41-3168A>C (n.41-3168A>C) | |
19 | g.46704281G>A | CA309105294 | PRKD2 | c.777C>T (p.Ser259=) c.306C>T (p.Ser102=) c.41-3169C>T (n.41-3169C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.46704281G>C | CA507974855 | PRKD2 | c.777C>G (p.Ser259=) c.306C>G (p.Ser102=) c.41-3169C>G (n.41-3169C>G) | |
19 | g.46704281G= | CA2339041889 | PRKD2 | c.777C= (p.Ser259=) c.306C= (p.Ser102=) c.41-3169C= (n.41-3169C=) | |
19 | g.46704281G>T | CA507974854 | PRKD2 | c.777C>A (p.Ser259=) c.306C>A (p.Ser102=) c.41-3169C>A (n.41-3169C>A) | |
19 | g.46704282G>A | CA309105297 | PRKD2 | c.776C>T (p.Ser259Phe) c.305C>T (p.Ser102Phe) c.41-3170C>T (n.41-3170C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.46704282G>C | CA9531039 | PRKD2 | c.776C>G (p.Ser259Cys) c.305C>G (p.Ser102Cys) c.41-3170C>G (n.41-3170C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.46704282G= | CA2339041890 | PRKD2 | c.776C= (p.Ser259=) c.305C= (p.Ser102=) c.41-3170C= (n.41-3170C=) | |
19 | g.46704282G>T | CA406489069 | PRKD2 | c.776C>A (p.Ser259Tyr) c.305C>A (p.Ser102Tyr) c.41-3170C>A (n.41-3170C>A) | |
19 | g.46704283A>C | CA406489071 | PRKD2 | c.775T>G (p.Ser259Ala) c.304T>G (p.Ser102Ala) c.41-3171T>G (n.41-3171T>G) | |
19 | g.46704283A>G | CA406489073 | PRKD2 | c.775T>C (p.Ser259Pro) c.304T>C (p.Ser102Pro) c.41-3171T>C (n.41-3171T>C) | |
19 | g.46704283A>T | CA406489074 | PRKD2 | c.775T>A (p.Ser259Thr) c.304T>A (p.Ser102Thr) c.41-3171T>A (n.41-3171T>A) | |
19 | g.46704284G>A | CA507974856 | PRKD2 | c.774C>T (p.Leu258=) c.303C>T (p.Leu101=) c.41-3172C>T (n.41-3172C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.46704284G>C | CA507974858 | PRKD2 | c.774C>G (p.Leu258=) c.303C>G (p.Leu101=) c.41-3172C>G (n.41-3172C>G) | |
19 | g.46704284G= | CA2339041891 | PRKD2 | c.774C= (p.Leu258=) c.303C= (p.Leu101=) c.41-3172C= (n.41-3172C=) | |
19 | g.46704284G>T | CA507974857 | PRKD2 | c.774C>A (p.Leu258=) c.303C>A (p.Leu101=) c.41-3172C>A (n.41-3172C>A) | |
19 | g.46704285A>C | CA406489077 | PRKD2 | c.773T>G (p.Leu258Arg) c.302T>G (p.Leu101Arg) c.41-3173T>G (n.41-3173T>G) | |
19 | g.46704285A>G | CA406489078 | PRKD2 | c.773T>C (p.Leu258Pro) c.302T>C (p.Leu101Pro) c.41-3173T>C (n.41-3173T>C) | gnomAD v4 |
19 | g.46704285A>T | CA406489076 | PRKD2 | c.773T>A (p.Leu258His) c.302T>A (p.Leu101His) c.41-3173T>A (n.41-3173T>A) | |
19 | g.46704286G>A | CA406489080 | PRKD2 | c.772C>T (p.Leu258Phe) c.301C>T (p.Leu101Phe) c.41-3174C>T (n.41-3174C>T) | gnomAD v4 |
19 | g.46704286G>C | CA406489082 | PRKD2 | c.772C>G (p.Leu258Val) c.301C>G (p.Leu101Val) c.41-3174C>G (n.41-3174C>G) | |
19 | g.46704286G>T | CA406489083 | PRKD2 | c.772C>A (p.Leu258Ile) c.301C>A (p.Leu101Ile) c.41-3174C>A (n.41-3174C>A) | |
19 | g.46704287C>A | CA507974859 | PRKD2 | c.771G>T (p.Leu257=) c.300G>T (p.Leu100=) c.41-3175G>T (n.41-3175G>T) | |
19 | g.46704287C>G | CA507974860 | PRKD2 | c.771G>C (p.Leu257=) c.300G>C (p.Leu100=) c.41-3175G>C (n.41-3175G>C) | |
19 | g.46704287C>T | CA507974861 | PRKD2 | c.771G>A (p.Leu257=) c.300G>A (p.Leu100=) c.41-3175G>A (n.41-3175G>A) | gnomAD v4 |
19 | g.46704288A>C | CA406489085 | PRKD2 | c.770T>G (p.Leu257Arg) c.299T>G (p.Leu100Arg) c.41-3176T>G (n.41-3176T>G) | |
19 | g.46704288A>G | CA406489087 | PRKD2 | c.770T>C (p.Leu257Pro) c.299T>C (p.Leu100Pro) c.41-3176T>C (n.41-3176T>C) | |
19 | g.46704288A>T | CA406489089 | PRKD2 | c.770T>A (p.Leu257Gln) c.299T>A (p.Leu100Gln) c.41-3176T>A (n.41-3176T>A) | |
19 | g.46704289G>A | CA507974862 | PRKD2 | c.769C>T (p.Leu257=) c.298C>T (p.Leu100=) c.41-3177C>T (n.41-3177C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.46704289G>C | CA406489090 | PRKD2 | c.769C>G (p.Leu257Val) c.298C>G (p.Leu100Val) c.41-3177C>G (n.41-3177C>G) | |
19 | g.46704289G= | CA2339041892 | PRKD2 | c.769C= (p.Leu257=) c.298C= (p.Leu100=) c.41-3177C= (n.41-3177C=) | |
19 | g.46704289G>T | CA406489091 | PRKD2 | c.769C>A (p.Leu257Met) c.298C>A (p.Leu100Met) c.41-3177C>A (n.41-3177C>A) | |
19 | g.46704290C>A | CA406489092 | PRKD2 | c.768G>T (p.Met256Ile) c.297G>T (p.Met99Ile) c.41-3178G>T (n.41-3178G>T) | |
19 | g.46704290C>G | CA406489093 | PRKD2 | c.768G>C (p.Met256Ile) c.297G>C (p.Met99Ile) c.41-3178G>C (n.41-3178G>C) | |
19 | g.46704290C>T | CA406489095 | PRKD2 | c.768G>A (p.Met256Ile) c.297G>A (p.Met99Ile) c.41-3178G>A (n.41-3178G>A) | |
19 | g.46704291A>C | CA406489097 | PRKD2 | c.767T>G (p.Met256Arg) c.296T>G (p.Met99Arg) c.41-3179T>G (n.41-3179T>G) | |
19 | g.46704291A>G | CA406489098 | PRKD2 | c.767T>C (p.Met256Thr) c.296T>C (p.Met99Thr) c.41-3179T>C (n.41-3179T>C) | |
19 | g.46704291A>T | CA406489099 | PRKD2 | c.767T>A (p.Met256Lys) c.296T>A (p.Met99Lys) c.41-3179T>A (n.41-3179T>A) | |
19 | g.46704292T>A | CA406489103 | PRKD2 | c.766A>T (p.Met256Leu) c.295A>T (p.Met99Leu) c.41-3180A>T (n.41-3180A>T) | |
19 | g.46704292T>C | CA406489105 | PRKD2 | c.766A>G (p.Met256Val) c.295A>G (p.Met99Val) c.41-3180A>G (n.41-3180A>G) | |
19 | g.46704292T>G | CA406489101 | PRKD2 | c.766A>C (p.Met256Leu) c.295A>C (p.Met99Leu) c.41-3180A>C (n.41-3180A>C) | |
19 | g.46704293C>A | CA406489112 | PRKD2 | c.765G>T (p.Lys255Asn) c.294G>T (p.Lys98Asn) c.41-3181G>T (n.41-3181G>T) | |
19 | g.46704293C>G | CA406489109 | PRKD2 | c.765G>C (p.Lys255Asn) c.294G>C (p.Lys98Asn) c.41-3181G>C (n.41-3181G>C) | |
19 | g.46704293C>T | CA507974863 | PRKD2 | c.765G>A (p.Lys255=) c.294G>A (p.Lys98=) c.41-3181G>A (n.41-3181G>A) | |
19 | g.46704294T>A | CA406489114 | PRKD2 | c.764A>T (p.Lys255Met) c.293A>T (p.Lys98Met) c.41-3182A>T (n.41-3182A>T) | |
19 | g.46704294T>C | CA406489116 | PRKD2 | c.764A>G (p.Lys255Arg) c.293A>G (p.Lys98Arg) c.41-3182A>G (n.41-3182A>G) | |
19 | g.46704294T>G | CA406489118 | PRKD2 | c.764A>C (p.Lys255Thr) c.293A>C (p.Lys98Thr) c.41-3182A>C (n.41-3182A>C) | |
19 | g.46704295T>A | CA406489120 | PRKD2 | c.763A>T (p.Lys255Ter) c.292A>T (p.Lys98Ter) c.41-3183A>T (n.41-3183A>T) | |
19 | g.46704295T>C | CA406489121 | PRKD2 | c.763A>G (p.Lys255Glu) c.292A>G (p.Lys98Glu) c.41-3183A>G (n.41-3183A>G) | |
19 | g.46704295T>G | CA406489123 | PRKD2 | c.763A>C (p.Lys255Gln) c.292A>C (p.Lys98Gln) c.41-3183A>C (n.41-3183A>C) | |
19 | g.46704296G>A | CA507974864 | PRKD2 | c.762C>T (p.Asp254=) c.291C>T (p.Asp97=) c.41-3184C>T (n.41-3184C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.46704296G>C | CA406489125 | PRKD2 | c.762C>G (p.Asp254Glu) c.291C>G (p.Asp97Glu) c.41-3184C>G (n.41-3184C>G) | |
19 | g.46704296G= | CA2339041893 | PRKD2 | c.762C= (p.Asp254=) c.291C= (p.Asp97=) c.41-3184C= (n.41-3184C=) | |
19 | g.46704296G>T | CA309105303 | PRKD2 | c.762C>A (p.Asp254Glu) c.291C>A (p.Asp97Glu) c.41-3184C>A (n.41-3184C>A) | dbSNP gnomAD v4 |
19 | g.46704297T>A | CA406489128 | PRKD2 | c.761A>T (p.Asp254Val) c.290A>T (p.Asp97Val) c.41-3185A>T (n.41-3185A>T) | |
19 | g.46704297T>C | CA406489129 | PRKD2 | c.761A>G (p.Asp254Gly) c.290A>G (p.Asp97Gly) c.41-3185A>G (n.41-3185A>G) | |
19 | g.46704297T>G | CA406489131 | PRKD2 | c.761A>C (p.Asp254Ala) c.290A>C (p.Asp97Ala) c.41-3185A>C (n.41-3185A>C) | |
19 | g.46704298C>A | CA406489134 | PRKD2 | c.760G>T (p.Asp254Tyr) c.289G>T (p.Asp97Tyr) c.41-3186G>T (n.41-3186G>T) | |
19 | g.46704298C>G | CA406489135 | PRKD2 | c.760G>C (p.Asp254His) c.289G>C (p.Asp97His) c.41-3186G>C (n.41-3186G>C) | |
19 | g.46704298C>T | CA406489137 | PRKD2 | c.760G>A (p.Asp254Asn) c.289G>A (p.Asp97Asn) c.41-3186G>A (n.41-3186G>A) | |
19 | g.46704299dup | CA2841149990 | PRKD2 | c.760dup (p.Asp254GlyfsTer?) c.289dup (p.Asp97GlyfsTer?) c.41-3186dup (n.41-3186dup) | |
19 | g.46704299C>A | CA9531041 | PRKD2 | c.759G>T (p.Leu253=) c.288G>T (p.Leu96=) c.41-3187G>T (n.41-3187G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.46704299C= | CA2339041894 | PRKD2 | c.759G= (p.Leu253=) c.288G= (p.Leu96=) c.41-3187G= (n.41-3187G=) | |
19 | g.46704299C>G | CA507974867 | PRKD2 | c.759G>C (p.Leu253=) c.288G>C (p.Leu96=) c.41-3187G>C (n.41-3187G>C) | |
19 | g.46704299C>T | CA9531040 | PRKD2 | c.759G>A (p.Leu253=) c.288G>A (p.Leu96=) c.41-3187G>A (n.41-3187G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.46704300A>C | CA406489141 | PRKD2 | c.758T>G (p.Leu253Arg) c.287T>G (p.Leu96Arg) c.41-3188T>G (n.41-3188T>G) | |
19 | g.46704300A>G | CA406489143 | PRKD2 | c.758T>C (p.Leu253Pro) c.287T>C (p.Leu96Pro) c.41-3188T>C (n.41-3188T>C) | |
19 | g.46704300A>T | CA406489144 | PRKD2 | c.758T>A (p.Leu253Gln) c.287T>A (p.Leu96Gln) c.41-3188T>A (n.41-3188T>A) | |
19 | g.46704301G>A | CA507974868 | PRKD2 | c.757C>T (p.Leu253=) c.286C>T (p.Leu96=) c.41-3189C>T (n.41-3189C>T) | dbSNP gnomAD v4 |
19 | g.46704301G>C | CA406489146 | PRKD2 | c.757C>G (p.Leu253Val) c.286C>G (p.Leu96Val) c.41-3189C>G (n.41-3189C>G) | gnomAD v4 |
19 | g.46704301G= | CA2339041895 | PRKD2 | c.757C= (p.Leu253=) c.286C= (p.Leu96=) c.41-3189C= (n.41-3189C=) | |
19 | g.46704301G>T | CA406489147 | PRKD2 | c.757C>A (p.Leu253Met) c.286C>A (p.Leu96Met) c.41-3189C>A (n.41-3189C>A) | |
19 | g.46704302C>A | CA406489149 | PRKD2 | c.756G>T (p.Glu252Asp) c.285G>T (p.Glu95Asp) c.41-3190G>T (n.41-3190G>T) | |
19 | g.46704302C>G | CA406489150 | PRKD2 | c.756G>C (p.Glu252Asp) c.285G>C (p.Glu95Asp) c.41-3190G>C (n.41-3190G>C) | gnomAD v4 |
19 | g.46704302C>T | CA507974871 | PRKD2 | c.756G>A (p.Glu252=) c.285G>A (p.Glu95=) c.41-3190G>A (n.41-3190G>A) | |
19 | g.46704303T>A | CA406489151 | PRKD2 | c.755A>T (p.Glu252Val) c.284A>T (p.Glu95Val) c.41-3191A>T (n.41-3191A>T) | |
19 | g.46704303T>C | CA406489152 | PRKD2 | c.755A>G (p.Glu252Gly) c.284A>G (p.Glu95Gly) c.41-3191A>G (n.41-3191A>G) | |
19 | g.46704303T>G | CA406489153 | PRKD2 | c.755A>C (p.Glu252Ala) c.284A>C (p.Glu95Ala) c.41-3191A>C (n.41-3191A>C) | |
19 | g.46704304C>A | CA406489154 | PRKD2 | c.754G>T (p.Glu252Ter) c.283G>T (p.Glu95Ter) c.41-3192G>T (n.41-3192G>T) | |
19 | g.46704304C= | CA2339041896 | PRKD2 | c.754G= (p.Glu252=) c.283G= (p.Glu95=) c.41-3192G= (n.41-3192G=) | |
19 | g.46704304C>G | CA406489156 | PRKD2 | c.754G>C (p.Glu252Gln) c.283G>C (p.Glu95Gln) c.41-3192G>C (n.41-3192G>C) | |
19 | g.46704304C>T | CA9531042 | PRKD2 | c.754G>A (p.Glu252Lys) c.283G>A (p.Glu95Lys) c.41-3192G>A (n.41-3192G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.46704305A= | CA2339041897 | PRKD2 | c.753T= (p.Ile251=) c.282T= (p.Ile94=) c.41-3193T= (n.41-3193T=) | |
19 | g.46704305A>C | CA406489158 | PRKD2 | c.753T>G (p.Ile251Met) c.282T>G (p.Ile94Met) c.41-3193T>G (n.41-3193T>G) | |
19 | g.46704305A>G | CA9531043 | PRKD2 | c.753T>C (p.Ile251=) c.282T>C (p.Ile94=) c.41-3193T>C (n.41-3193T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.46704305A>T | CA507974874 | PRKD2 | c.753T>A (p.Ile251=) c.282T>A (p.Ile94=) c.41-3193T>A (n.41-3193T>A) | |
19 | g.46704306A= | CA2339041898 | PRKD2 | c.752T= (p.Ile251=) c.281T= (p.Ile94=) c.41-3194T= (n.41-3194T=) | |
19 | g.46704306A>C | CA406489160 | PRKD2 | c.752T>G (p.Ile251Ser) c.281T>G (p.Ile94Ser) c.41-3194T>G (n.41-3194T>G) | |
19 | g.46704306A>G | CA309105313 | PRKD2 | c.752T>C (p.Ile251Thr) c.281T>C (p.Ile94Thr) c.41-3194T>C (n.41-3194T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.46704306A>T | CA406489163 | PRKD2 | c.752T>A (p.Ile251Asn) c.281T>A (p.Ile94Asn) c.41-3194T>A (n.41-3194T>A) | |
19 | g.46704307T>A | CA406489165 | PRKD2 | c.751A>T (p.Ile251Phe) c.280A>T (p.Ile94Phe) c.41-3195A>T (n.41-3195A>T) | |
19 | g.46704307T>C | CA9531044 | PRKD2 | c.751A>G (p.Ile251Val) c.280A>G (p.Ile94Val) c.41-3195A>G (n.41-3195A>G) | dbSNP ExAC gnomAD v4 |
19 | g.46704307T>G | CA406489168 | PRKD2 | c.751A>C (p.Ile251Leu) c.280A>C (p.Ile94Leu) c.41-3195A>C (n.41-3195A>C) | |
19 | g.46704307T= | CA2339041899 | PRKD2 | c.751A= (p.Ile251=) c.280A= (p.Ile94=) c.41-3195A= (n.41-3195A=) | |
19 | g.46704308G>A | CA507974875 | PRKD2 | c.750C>T (p.Pro250=) c.279C>T (p.Pro93=) c.41-3196C>T (n.41-3196C>T) | |
19 | g.46704308G>C | CA507974876 | PRKD2 | c.750C>G (p.Pro250=) c.279C>G (p.Pro93=) c.41-3196C>G (n.41-3196C>G) | |
19 | g.46704308G>T | CA507974877 | PRKD2 | c.750C>A (p.Pro250=) c.279C>A (p.Pro93=) c.41-3196C>A (n.41-3196C>A) | |
19 | g.46704309G>A | CA406489174 | PRKD2 | c.749C>T (p.Pro250Leu) c.278C>T (p.Pro93Leu) c.41-3197C>T (n.41-3197C>T) | |
19 | g.46704309G>C | CA406489172 | PRKD2 | c.749C>G (p.Pro250Arg) c.278C>G (p.Pro93Arg) c.41-3197C>G (n.41-3197C>G) | |
19 | g.46704309G>T | CA406489170 | PRKD2 | c.749C>A (p.Pro250His) c.278C>A (p.Pro93His) c.41-3197C>A (n.41-3197C>A) | |
19 | g.46704310G>A | CA406489175 | PRKD2 | c.748C>T (p.Pro250Ser) c.277C>T (p.Pro93Ser) c.41-3198C>T (n.41-3198C>T) | |
19 | g.46704310G>C | CA406489177 | PRKD2 | c.748C>G (p.Pro250Ala) c.277C>G (p.Pro93Ala) c.41-3198C>G (n.41-3198C>G) | |
19 | g.46704310G>T | CA406489179 | PRKD2 | c.748C>A (p.Pro250Thr) c.277C>A (p.Pro93Thr) c.41-3198C>A (n.41-3198C>A) | |
19 | g.46704311G>A | CA507974878 | PRKD2 | c.747C>T (p.Arg249=) c.276C>T (p.Arg92=) c.41-3199C>T (n.41-3199C>T) | |
19 | g.46704311G>C | CA507974880 | PRKD2 | c.747C>G (p.Arg249=) c.276C>G (p.Arg92=) c.41-3199C>G (n.41-3199C>G) | |
19 | g.46704311G>T | CA507974879 | PRKD2 | c.747C>A (p.Arg249=) c.276C>A (p.Arg92=) c.41-3199C>A (n.41-3199C>A) | |
19 | g.46704312C>A | CA406489180 | PRKD2 | c.746G>T (p.Arg249Leu) c.275G>T (p.Arg92Leu) c.41-3200G>T (n.41-3200G>T) | |
19 | g.46704312C= | CA2339041900 | PRKD2 | c.746G= (p.Arg249=) c.275G= (p.Arg92=) c.41-3200G= (n.41-3200G=) | |
19 | g.46704312C>G | CA406489182 | PRKD2 | c.746G>C (p.Arg249Pro) c.275G>C (p.Arg92Pro) c.41-3200G>C (n.41-3200G>C) | |
19 | g.46704312C>T | CA309105319 | PRKD2 | c.746G>A (p.Arg249His) c.275G>A (p.Arg92His) c.41-3200G>A (n.41-3200G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.46704313G>A | CA9531045 | PRKD2 | c.745C>T (p.Arg249Cys) c.274C>T (p.Arg92Cys) c.41-3201C>T (n.41-3201C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.46704313G>C | CA406489187 | PRKD2 | c.745C>G (p.Arg249Gly) c.274C>G (p.Arg92Gly) c.41-3201C>G (n.41-3201C>G) | |
19 | g.46704313G= | CA2339041901 | PRKD2 | c.745C= (p.Arg249=) c.274C= (p.Arg92=) c.41-3201C= (n.41-3201C=) | |
19 | g.46704313G>T | CA406489185 | PRKD2 | c.745C>A (p.Arg249Ser) c.274C>A (p.Arg92Ser) c.41-3201C>A (n.41-3201C>A) | |
19 | g.46704314G>A | CA9531046 | PRKD2 | c.744C>T (p.Gly248=) c.273C>T (p.Gly91=) c.41-3202C>T (n.41-3202C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.46704314G>C | CA507974882 | PRKD2 | c.744C>G (p.Gly248=) c.273C>G (p.Gly91=) c.41-3202C>G (n.41-3202C>G) | |
19 | g.46704314G= | CA2339041902 | PRKD2 | c.744C= (p.Gly248=) c.273C= (p.Gly91=) c.41-3202C= (n.41-3202C=) | |
19 | g.46704314G>T | CA507974881 | PRKD2 | c.744C>A (p.Gly248=) c.273C>A (p.Gly91=) c.41-3202C>A (n.41-3202C>A) | |
19 | g.46704315C>A | CA406489189 | PRKD2 | c.743G>T (p.Gly248Val) c.272G>T (p.Gly91Val) c.41-3203G>T (n.41-3203G>T) | |
19 | g.46704315C= | CA2339041903 | PRKD2 | c.743G= (p.Gly248=) c.272G= (p.Gly91=) c.41-3203G= (n.41-3203G=) | |
19 | g.46704315C>G | CA309105326 | PRKD2 | c.743G>C (p.Gly248Ala) c.272G>C (p.Gly91Ala) c.41-3203G>C (n.41-3203G>C) | dbSNP |
19 | g.46704315C>T | CA406489190 | PRKD2 | c.743G>A (p.Gly248Asp) c.272G>A (p.Gly91Asp) c.41-3203G>A (n.41-3203G>A) | |
19 | g.46704316C>A | CA406489192 | PRKD2 | c.742G>T (p.Gly248Cys) c.271G>T (p.Gly91Cys) c.41-3204G>T (n.41-3204G>T) | |
19 | g.46704316C>G | CA406489194 | PRKD2 | c.742G>C (p.Gly248Arg) c.271G>C (p.Gly91Arg) c.41-3204G>C (n.41-3204G>C) | |
19 | g.46704316C>T | CA406489195 | PRKD2 | c.742G>A (p.Gly248Ser) c.271G>A (p.Gly91Ser) c.41-3204G>A (n.41-3204G>A) | |
19 | g.46704317C>A | CA507974883 | PRKD2 | c.741G>T (p.Thr247=) c.270G>T (p.Thr90=) c.41-3205G>T (n.41-3205G>T) | |
19 | g.46704317C= | CA2339041904 | PRKD2 | c.741G= (p.Thr247=) c.270G= (p.Thr90=) c.41-3205G= (n.41-3205G=) | |
19 | g.46704317C>G | CA507974884 | PRKD2 | c.741G>C (p.Thr247=) c.270G>C (p.Thr90=) c.41-3205G>C (n.41-3205G>C) | |
19 | g.46704317C>T | CA309105328 | PRKD2 | c.741G>A (p.Thr247=) c.270G>A (p.Thr90=) c.41-3205G>A (n.41-3205G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.46704318G>A | CA9531047 | PRKD2 | c.740C>T (p.Thr247Met) c.269C>T (p.Thr90Met) c.41-3206C>T (n.41-3206C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.46704318G>C | CA406489198 | PRKD2 | c.740C>G (p.Thr247Arg) c.269C>G (p.Thr90Arg) c.41-3206C>G (n.41-3206C>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.46704318G= | CA2339041905 | PRKD2 | c.740C= (p.Thr247=) c.269C= (p.Thr90=) c.41-3206C= (n.41-3206C=) | |
19 | g.46704318G>T | CA406489200 | PRKD2 | c.740C>A (p.Thr247Lys) c.269C>A (p.Thr90Lys) c.41-3206C>A (n.41-3206C>A) | |
19 | g.46704319T>A | CA406489205 | PRKD2 | c.739A>T (p.Thr247Ser) c.268A>T (p.Thr90Ser) c.41-3207A>T (n.41-3207A>T) | |
19 | g.46704319T>C | CA406489202 | PRKD2 | c.739A>G (p.Thr247Ala) c.268A>G (p.Thr90Ala) c.41-3207A>G (n.41-3207A>G) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.46704319T>G | CA406489204 | PRKD2 | c.739A>C (p.Thr247Pro) c.268A>C (p.Thr90Pro) c.41-3207A>C (n.41-3207A>C) | |
19 | g.46704319T= | CA2339041906 | PRKD2 | c.739A= (p.Thr247=) c.268A= (p.Thr90=) c.41-3207A= (n.41-3207A=) | |
19 | g.46704320A= | CA2339041907 | PRKD2 | c.738T= (p.Tyr246=) c.267T= (p.Tyr89=) c.41-3208T= (n.41-3208T=) | |
19 | g.46704320A>C | CA406489207 | PRKD2 | c.738T>G (p.Tyr246Ter) c.267T>G (p.Tyr89Ter) c.41-3208T>G (n.41-3208T>G) | |
19 | g.46704320A>G | CA9531048 | PRKD2 | c.738T>C (p.Tyr246=) c.267T>C (p.Tyr89=) c.41-3208T>C (n.41-3208T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.46704320A>T | CA406489209 | PRKD2 | c.738T>A (p.Tyr246Ter) c.267T>A (p.Tyr89Ter) c.41-3208T>A (n.41-3208T>A) | |
19 | g.46704321T>A | CA406489212 | PRKD2 | c.737A>T (p.Tyr246Phe) c.266A>T (p.Tyr89Phe) c.41-3209A>T (n.41-3209A>T) | |
19 | g.46704321T>C | CA406489213 | PRKD2 | c.737A>G (p.Tyr246Cys) c.266A>G (p.Tyr89Cys) c.41-3209A>G (n.41-3209A>G) | gnomAD v4 |
19 | g.46704321T>G | CA406489215 | PRKD2 | c.737A>C (p.Tyr246Ser) c.266A>C (p.Tyr89Ser) c.41-3209A>C (n.41-3209A>C) | |
19 | g.46704322A>C | CA406489217 | PRKD2 | c.736T>G (p.Tyr246Asp) c.265T>G (p.Tyr89Asp) c.41-3210T>G (n.41-3210T>G) | |
19 | g.46704322A>G | CA406489219 | PRKD2 | c.736T>C (p.Tyr246His) c.265T>C (p.Tyr89His) c.41-3210T>C (n.41-3210T>C) | |
19 | g.46704322A>T | CA406489220 | PRKD2 | c.736T>A (p.Tyr246Asn) c.265T>A (p.Tyr89Asn) c.41-3210T>A (n.41-3210T>A) | |
19 | g.46704323C>A | CA507974885 | PRKD2 | c.735G>T (p.Ser245=) c.264G>T (p.Ser88=) c.41-3211G>T (n.41-3211G>T) | |
19 | g.46704323C= | CA2339041908 | PRKD2 | c.735G= (p.Ser245=) c.264G= (p.Ser88=) c.41-3211G= (n.41-3211G=) | |
19 | g.46704323C>G | CA507974886 | PRKD2 | c.735G>C (p.Ser245=) c.264G>C (p.Ser88=) c.41-3211G>C (n.41-3211G>C) | gnomAD v4 |
19 | g.46704323C>T | CA9531049 | PRKD2 | c.735G>A (p.Ser245=) c.264G>A (p.Ser88=) c.41-3211G>A (n.41-3211G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.46704324G>A | CA9531050 | PRKD2 | c.734C>T (p.Ser245Leu) c.263C>T (p.Ser88Leu) c.41-3212C>T (n.41-3212C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.46704324G>C | CA406489224 | PRKD2 | c.734C>G (p.Ser245Trp) c.263C>G (p.Ser88Trp) c.41-3212C>G (n.41-3212C>G) | |
19 | g.46704324G= | CA2339041909 | PRKD2 | c.734C= (p.Ser245=) c.263C= (p.Ser88=) c.41-3212C= (n.41-3212C=) | |
19 | g.46704324G>T | CA406489225 | PRKD2 | c.734C>A (p.Ser245Ter) c.263C>A (p.Ser88Ter) c.41-3212C>A (n.41-3212C>A) | |
19 | g.46704325A>C | CA406489231 | PRKD2 | c.733T>G (p.Ser245Ala) c.262T>G (p.Ser88Ala) c.41-3213T>G (n.41-3213T>G) | gnomAD v4 |
19 | g.46704325A>G | CA406489229 | PRKD2 | c.733T>C (p.Ser245Pro) c.262T>C (p.Ser88Pro) c.41-3213T>C (n.41-3213T>C) | |
19 | g.46704325A>T | CA406489227 | PRKD2 | c.733T>A (p.Ser245Thr) c.262T>A (p.Ser88Thr) c.41-3213T>A (n.41-3213T>A) | |
19 | g.46704326T>A | CA507974887 | PRKD2 | c.732A>T (p.Ser244=) c.261A>T (p.Ser87=) c.41-3214A>T (n.41-3214A>T) | |
19 | g.46704326T>C | CA507974888 | PRKD2 | c.732A>G (p.Ser244=) c.261A>G (p.Ser87=) c.41-3214A>G (n.41-3214A>G) | gnomAD v4 |
19 | g.46704326T>G | CA507974889 | PRKD2 | c.732A>C (p.Ser244=) c.261A>C (p.Ser87=) c.41-3214A>C (n.41-3214A>C) | |
19 | g.46704327G>A | CA406489232 | PRKD2 | c.731C>T (p.Ser244Leu) c.260C>T (p.Ser87Leu) c.41-3215C>T (n.41-3215C>T) | gnomAD v4 |
19 | g.46704327G>C | CA406489233 | PRKD2 | c.731C>G (p.Ser244Ter) c.260C>G (p.Ser87Ter) c.41-3215C>G (n.41-3215C>G) | |
19 | g.46704327G>T | CA406489235 | PRKD2 | c.731C>A (p.Ser244Ter) c.260C>A (p.Ser87Ter) c.41-3215C>A (n.41-3215C>A) | |
19 | g.46704328A>C | CA406489237 | PRKD2 | c.730T>G (p.Ser244Ala) c.259T>G (p.Ser87Ala) c.41-3216T>G (n.41-3216T>G) | |
19 | g.46704328A>G | CA406489238 | PRKD2 | c.730T>C (p.Ser244Pro) c.259T>C (p.Ser87Pro) c.41-3216T>C (n.41-3216T>C) | |
19 | g.46704328A>T | CA406489240 | PRKD2 | c.730T>A (p.Ser244Thr) c.259T>A (p.Ser87Thr) c.41-3216T>A (n.41-3216T>A) | |
19 | g.46704329G>A | CA507974890 | PRKD2 | c.729C>T (p.Ala243=) c.258C>T (p.Ala86=) c.41-3217C>T (n.41-3217C>T) | gnomAD v4 |
19 | g.46704329G>C | CA507974891 | PRKD2 | c.729C>G (p.Ala243=) c.258C>G (p.Ala86=) c.41-3217C>G (n.41-3217C>G) | |
19 | g.46704329G>T | CA507974892 | PRKD2 | c.729C>A (p.Ala243=) c.258C>A (p.Ala86=) c.41-3217C>A (n.41-3217C>A) | |
19 | g.46704330G>A | CA406489242 | PRKD2 | c.728C>T (p.Ala243Val) c.257C>T (p.Ala86Val) c.41-3218C>T (n.41-3218C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.46704330G>C | CA406489244 | PRKD2 | c.728C>G (p.Ala243Gly) c.257C>G (p.Ala86Gly) c.41-3218C>G (n.41-3218C>G) | |
19 | g.46704330G= | CA2339041910 | PRKD2 | c.728C= (p.Ala243=) c.257C= (p.Ala86=) c.41-3218C= (n.41-3218C=) | |
19 | g.46704330G>T | CA406489246 | PRKD2 | c.728C>A (p.Ala243Asp) c.257C>A (p.Ala86Asp) c.41-3218C>A (n.41-3218C>A) | |
19 | g.46704331C>A | CA406489247 | PRKD2 | c.727G>T (p.Ala243Ser) c.256G>T (p.Ala86Ser) c.41-3219G>T (n.41-3219G>T) | |
19 | g.46704331C>G | CA406489249 | PRKD2 | c.727G>C (p.Ala243Pro) c.256G>C (p.Ala86Pro) c.41-3219G>C (n.41-3219G>C) | |
19 | g.46704331C>T | CA406489251 | PRKD2 | c.727G>A (p.Ala243Thr) c.256G>A (p.Ala86Thr) c.41-3219G>A (n.41-3219G>A) | |
19 | g.46704331_46704340delinsCAGAAGAGGA | CA2339041911 | PRKD2 | c.718_727delinsTCCTCTTCTG (p.Ser240=) c.247_256delinsTCCTCTTCTG (p.Ser83=) c.41-3228_41-3219delinsTCCTCTTCTG (n.41-3228_41-3219delinsTCCTCTTCTG) | |
19 | g.46704332A= | CA2339041913 | PRKD2 | c.726T= (p.Ser242=) c.255T= (p.Ser85=) c.41-3220T= (n.41-3220T=) | |
19 | g.46704332A>C | CA507974893 | PRKD2 | c.726T>G (p.Ser242=) c.255T>G (p.Ser85=) c.41-3220T>G (n.41-3220T>G) | |
19 | g.46704332A>G | CA9531052 | PRKD2 | c.726T>C (p.Ser242=) c.255T>C (p.Ser85=) c.41-3220T>C (n.41-3220T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.46704332A>T | CA9531051 | PRKD2 | c.726T>A (p.Ser242=) c.255T>A (p.Ser85=) c.41-3220T>A (n.41-3220T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.46704332_46704340del | CA2339041912 | PRKD2 | c.718_726del (p.Ser240_Ser242del) c.247_255del (p.Ser83_Ser85del) c.41-3228_41-3220del (n.41-3228_41-3220del) | dbSNP |
19 | g.46704333G>A | CA406489257 | PRKD2 | c.725C>T (p.Ser242Phe) c.254C>T (p.Ser85Phe) c.41-3221C>T (n.41-3221C>T) | gnomAD v4 |
19 | g.46704333G>C | CA406489256 | PRKD2 | c.725C>G (p.Ser242Cys) c.254C>G (p.Ser85Cys) c.41-3221C>G (n.41-3221C>G) | |
19 | g.46704333G>T | CA406489254 | PRKD2 | c.725C>A (p.Ser242Tyr) c.254C>A (p.Ser85Tyr) c.41-3221C>A (n.41-3221C>A) | |
19 | g.46704334A>C | CA406489258 | PRKD2 | c.724T>G (p.Ser242Ala) c.253T>G (p.Ser85Ala) c.41-3222T>G (n.41-3222T>G) | |
19 | g.46704334A>G | CA406489260 | PRKD2 | c.724T>C (p.Ser242Pro) c.253T>C (p.Ser85Pro) c.41-3222T>C (n.41-3222T>C) | |
19 | g.46704334A>T | CA406489261 | PRKD2 | c.724T>A (p.Ser242Thr) c.253T>A (p.Ser85Thr) c.41-3222T>A (n.41-3222T>A) | |
19 | g.46704335A>C | CA507974894 | PRKD2 | c.723T>G (p.Ser241=) c.252T>G (p.Ser84=) c.41-3223T>G (n.41-3223T>G) | |
19 | g.46704335A>G | CA507974895 | PRKD2 | c.723T>C (p.Ser241=) c.252T>C (p.Ser84=) c.41-3223T>C (n.41-3223T>C) | |
19 | g.46704335A>T | CA507974896 | PRKD2 | c.723T>A (p.Ser241=) c.252T>A (p.Ser84=) c.41-3223T>A (n.41-3223T>A) | |
19 | g.46704335_46704338delinsAGAG | CA2339041914 | PRKD2 | c.720_723delinsCTCT (p.Ser240=) c.249_252delinsCTCT (p.Ser83=) c.41-3226_41-3223delinsCTCT (n.41-3226_41-3223delinsCTCT) | |
19 | g.46704336G>A | CA406489262 | PRKD2 | c.722C>T (p.Ser241Phe) c.251C>T (p.Ser84Phe) c.41-3224C>T (n.41-3224C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.46704336G>C | CA406489263 | PRKD2 | c.722C>G (p.Ser241Cys) c.251C>G (p.Ser84Cys) c.41-3224C>G (n.41-3224C>G) | |
19 | g.46704336G= | CA2339041915 | PRKD2 | c.722C= (p.Ser241=) c.251C= (p.Ser84=) c.41-3224C= (n.41-3224C=) | |
19 | g.46704336G>T | CA406489264 | PRKD2 | c.722C>A (p.Ser241Tyr) c.251C>A (p.Ser84Tyr) c.41-3224C>A (n.41-3224C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.46704341_46704343del | CA309105335 | PRKD2 | c.720_722del (p.Ser241del) c.249_251del (p.Ser84del) c.41-3226_41-3224del (n.41-3226_41-3224del) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.46704337A>C | CA406489266 | PRKD2 | c.721T>G (p.Ser241Ala) c.456T>G (n.456T>G) c.250T>G (p.Ser84Ala) c.41-3225T>G (n.41-3225T>G) | |
19 | g.46704337A>G | CA406489267 | PRKD2 | c.721T>C (p.Ser241Pro) c.456T>C (n.456T>C) c.250T>C (p.Ser84Pro) c.41-3225T>C (n.41-3225T>C) | |
19 | g.46704337A>T | CA406489269 | PRKD2 | c.721T>A (p.Ser241Thr) c.456T>A (n.456T>A) c.250T>A (p.Ser84Thr) c.41-3225T>A (n.41-3225T>A) | |
19 | g.46704338G>A | CA507974898 | PRKD2 | c.720C>T (p.Ser240=) c.455C>T (n.455C>T) c.249C>T (p.Ser83=) c.41-3226C>T (n.41-3226C>T) | COSMIC |
19 | g.46704338G>C | CA507974900 | PRKD2 | c.720C>G (p.Ser240=) c.455C>G (n.455C>G) c.249C>G (p.Ser83=) c.41-3226C>G (n.41-3226C>G) | |
19 | g.46704338G= | CA2339041916 | PRKD2 | c.720C= (p.Ser240=) c.455C= (n.455C=) c.249C= (p.Ser83=) c.41-3226C= (n.41-3226C=) | |
19 | g.46704338G>T | CA507974902 | PRKD2 | c.720C>A (p.Ser240=) c.455C>A (n.455C>A) c.249C>A (p.Ser83=) c.41-3226C>A (n.41-3226C>A) | dbSNP gnomAD v4 |
19 | g.46704339G>A | CA406489270 | PRKD2 | c.719C>T (p.Ser240Phe) c.454C>T (n.454C>T) c.248C>T (p.Ser83Phe) c.41-3227C>T (n.41-3227C>T) | |
19 | g.46704339G>C | CA406489272 | PRKD2 | c.719C>G (p.Ser240Cys) c.454C>G (n.454C>G) c.248C>G (p.Ser83Cys) c.41-3227C>G (n.41-3227C>G) | |
19 | g.46704339G>T | CA406489273 | PRKD2 | c.719C>A (p.Ser240Tyr) c.454C>A (n.454C>A) c.248C>A (p.Ser83Tyr) c.41-3227C>A (n.41-3227C>A) | |
19 | g.46704340A>C | CA406489279 | PRKD2 | c.718T>G (p.Ser240Ala) c.453T>G (n.453T>G) c.247T>G (p.Ser83Ala) c.41-3228T>G (n.41-3228T>G) | |
19 | g.46704340A>G | CA406489277 | PRKD2 | c.718T>C (p.Ser240Pro) c.453T>C (n.453T>C) c.247T>C (p.Ser83Pro) c.41-3228T>C (n.41-3228T>C) | |
19 | g.46704340A>T | CA406489275 | PRKD2 | c.718T>A (p.Ser240Thr) c.453T>A (n.453T>A) c.247T>A (p.Ser83Thr) c.41-3228T>A (n.41-3228T>A) | |
19 | g.46704341G>A | CA507974903 | PRKD2 | c.717C>T (p.Ser239=) c.452C>T (n.452C>T) c.246C>T (p.Ser82=) c.41-3229C>T (n.41-3229C>T) | |
19 | g.46704341G>C | CA507974905 | PRKD2 | c.717C>G (p.Ser239=) c.452C>G (n.452C>G) c.246C>G (p.Ser82=) c.41-3229C>G (n.41-3229C>G) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.46704341G= | CA2339041917 | PRKD2 | c.717C= (p.Ser239=) c.452C= (n.452C=) c.246C= (p.Ser82=) c.41-3229C= (n.41-3229C=) | |
19 | g.46704341G>T | CA507974907 | PRKD2 | c.717C>A (p.Ser239=) c.452C>A (n.452C>A) c.246C>A (p.Ser82=) c.41-3229C>A (n.41-3229C>A) | |
19 | g.46704342G>A | CA406489280 | PRKD2 | c.716C>T (p.Ser239Phe) c.451C>T (n.451C>T) c.245C>T (p.Ser82Phe) c.41-3230C>T (n.41-3230C>T) | COSMIC |
19 | g.46704342G>C | CA406489282 | PRKD2 | c.716C>G (p.Ser239Cys) c.451C>G (n.451C>G) c.245C>G (p.Ser82Cys) c.41-3230C>G (n.41-3230C>G) | |
19 | g.46704342G>T | CA406489284 | PRKD2 | c.716C>A (p.Ser239Tyr) c.451C>A (n.451C>A) c.245C>A (p.Ser82Tyr) c.41-3230C>A (n.41-3230C>A) | |
19 | g.46704343A>C | CA406489286 | PRKD2 | c.715T>G (p.Ser239Ala) c.450T>G (n.450T>G) c.244T>G (p.Ser82Ala) c.41-3231T>G (n.41-3231T>G) | |
19 | g.46704343A>G | CA406489287 | PRKD2 | c.715T>C (p.Ser239Pro) c.450T>C (n.450T>C) c.244T>C (p.Ser82Pro) c.41-3231T>C (n.41-3231T>C) | |
19 | g.46704343A>T | CA406489288 | PRKD2 | c.715T>A (p.Ser239Thr) c.450T>A (n.450T>A) c.244T>A (p.Ser82Thr) c.41-3231T>A (n.41-3231T>A) | |
19 | g.46704344A>C | CA507974909 | PRKD2 | c.714T>G (p.Ser238=) c.449T>G (n.449T>G) c.243T>G (p.Ser81=) c.41-3232T>G (n.41-3232T>G) | |
19 | g.46704344A>G | CA507974910 | PRKD2 | c.714T>C (p.Ser238=) c.449T>C (n.449T>C) c.243T>C (p.Ser81=) c.41-3232T>C (n.41-3232T>C) | |
19 | g.46704344A>T | CA507974911 | PRKD2 | c.714T>A (p.Ser238=) c.449T>A (n.449T>A) c.243T>A (p.Ser81=) c.41-3232T>A (n.41-3232T>A) | |
19 | g.46704345G>A | CA406489291 | PRKD2 | c.713C>T (p.Ser238Phe) c.448C>T (n.448C>T) c.242C>T (p.Ser81Phe) c.41-3233C>T (n.41-3233C>T) | gnomAD v4 |
19 | g.46704345G>C | CA406489292 | PRKD2 | c.713C>G (p.Ser238Cys) c.448C>G (n.448C>G) c.242C>G (p.Ser81Cys) c.41-3233C>G (n.41-3233C>G) | |
19 | g.46704345G>T | CA406489294 | PRKD2 | c.713C>A (p.Ser238Tyr) c.448C>A (n.448C>A) c.242C>A (p.Ser81Tyr) c.41-3233C>A (n.41-3233C>A) | |
19 | g.46704346A>C | CA406489295 | PRKD2 | c.712T>G (p.Ser238Ala) c.447T>G (n.447T>G) c.241T>G (p.Ser81Ala) c.41-3234T>G (n.41-3234T>G) | |
19 | g.46704346A>G | CA406489296 | PRKD2 | c.712T>C (p.Ser238Pro) c.447T>C (n.447T>C) c.241T>C (p.Ser81Pro) c.41-3234T>C (n.41-3234T>C) | |
19 | g.46704346A>T | CA406489297 | PRKD2 | c.712T>A (p.Ser238Thr) c.447T>A (n.447T>A) c.241T>A (p.Ser81Thr) c.41-3234T>A (n.41-3234T>A) | |
19 | g.46704347G>A | CA9531053 | PRKD2 | c.711C>T (p.Ser237=) c.446C>T (n.446C>T) c.240C>T (p.Ser80=) c.41-3235C>T (n.41-3235C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.46704347G>C | CA507974914 | PRKD2 | c.711C>G (p.Ser237=) c.446C>G (n.446C>G) c.240C>G (p.Ser80=) c.41-3235C>G (n.41-3235C>G) | |
19 | g.46704347G= | CA2339041918 | PRKD2 | c.711C= (p.Ser237=) c.446C= (n.446C=) c.240C= (p.Ser80=) c.41-3235C= (n.41-3235C=) | |
19 | g.46704347G>T | CA507974915 | PRKD2 | c.711C>A (p.Ser237=) c.446C>A (n.446C>A) c.240C>A (p.Ser80=) c.41-3235C>A (n.41-3235C>A) | |
19 | g.46704348G>A | CA406489301 | PRKD2 | c.710C>T (p.Ser237Phe) c.445C>T (n.445C>T) c.239C>T (p.Ser80Phe) c.41-3236C>T (n.41-3236C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.46704348G>C | CA406489302 | PRKD2 | c.710C>G (p.Ser237Cys) c.445C>G (n.445C>G) c.239C>G (p.Ser80Cys) c.41-3236C>G (n.41-3236C>G) | |
19 | g.46704348G= | CA2339041919 | PRKD2 | c.710C= (p.Ser237=) c.445C= (n.445C=) c.239C= (p.Ser80=) c.41-3236C= (n.41-3236C=) | |
19 | g.46704348G>T | CA406489299 | PRKD2 | c.710C>A (p.Ser237Tyr) c.445C>A (n.445C>A) c.239C>A (p.Ser80Tyr) c.41-3236C>A (n.41-3236C>A) | |
19 | g.46704349A= | CA2339041920 | PRKD2 | c.709T= (p.Ser237=) c.444T= (n.444T=) c.238T= (p.Ser80=) c.41-3237T= (n.41-3237T=) | |
19 | g.46704349A>C | CA406489303 | PRKD2 | c.709T>G (p.Ser237Ala) c.444T>G (n.444T>G) c.238T>G (p.Ser80Ala) c.41-3237T>G (n.41-3237T>G) | dbSNP |
19 | g.46704349A>G | CA406489307 | PRKD2 | c.709T>C (p.Ser237Pro) c.444T>C (n.444T>C) c.238T>C (p.Ser80Pro) c.41-3237T>C (n.41-3237T>C) | |
19 | g.46704349A>T | CA406489305 | PRKD2 | c.709T>A (p.Ser237Thr) c.444T>A (n.444T>A) c.238T>A (p.Ser80Thr) c.41-3237T>A (n.41-3237T>A) | |
19 | g.46704350T>A | CA507974917 | PRKD2 | c.708A>T (p.Ser236=) c.443A>T (n.443A>T) c.237A>T (p.Ser79=) c.41-3238A>T (n.41-3238A>T) | |
19 | g.46704350T>C | CA507974918 | PRKD2 | c.708A>G (p.Ser236=) c.443A>G (n.443A>G) c.237A>G (p.Ser79=) c.41-3238A>G (n.41-3238A>G) | |
19 | g.46704350T>G | CA507974919 | PRKD2 | c.708A>C (p.Ser236=) c.443A>C (n.443A>C) c.237A>C (p.Ser79=) c.41-3238A>C (n.41-3238A>C) | |
19 | g.46704351G>A | CA406489308 | PRKD2 | c.707C>T (p.Ser236Leu) c.442C>T (n.442C>T) c.236C>T (p.Ser79Leu) c.41-3239C>T (n.41-3239C>T) | |
19 | g.46704351G>C | CA406489310 | PRKD2 | c.707C>G (p.Ser236Ter) c.442C>G (n.442C>G) c.236C>G (p.Ser79Ter) c.41-3239C>G (n.41-3239C>G) | |
19 | g.46704351G>T | CA406489311 | PRKD2 | c.707C>A (p.Ser236Ter) c.442C>A (n.442C>A) c.236C>A (p.Ser79Ter) c.41-3239C>A (n.41-3239C>A) | |
19 | g.46704352A>C | CA406489313 | PRKD2 | c.706T>G (p.Ser236Ala) c.441T>G (n.441T>G) c.235T>G (p.Ser79Ala) c.41-3240T>G (n.41-3240T>G) | |
19 | g.46704352A>G | CA406489315 | PRKD2 | c.706T>C (p.Ser236Pro) c.441T>C (n.441T>C) c.235T>C (p.Ser79Pro) c.41-3240T>C (n.41-3240T>C) | gnomAD v4 |
19 | g.46704352A>T | CA406489316 | PRKD2 | c.706T>A (p.Ser236Thr) c.441T>A (n.441T>A) c.235T>A (p.Ser79Thr) c.41-3240T>A (n.41-3240T>A) | |
19 | g.46704353C>A | CA507974923 | PRKD2 | c.705G>T (p.Pro235=) c.440G>T (n.440G>T) c.234G>T (p.Pro78=) c.41-3241G>T (n.41-3241G>T) | |
19 | g.46704353C= | CA2339041921 | PRKD2 | c.705G= (p.Pro235=) c.440G= (n.440G=) c.234G= (p.Pro78=) c.41-3241G= (n.41-3241G=) | |
19 | g.46704353C>G | CA507974924 | PRKD2 | c.705G>C (p.Pro235=) c.440G>C (n.440G>C) c.234G>C (p.Pro78=) c.41-3241G>C (n.41-3241G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.46704353C>T | CA9531054 | PRKD2 | c.705G>A (p.Pro235=) c.440G>A (n.440G>A) c.234G>A (p.Pro78=) c.41-3241G>A (n.41-3241G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.46704354G>A | CA9531055 | PRKD2 | c.704C>T (p.Pro235Leu) c.439C>T (n.439C>T) c.233C>T (p.Pro78Leu) c.41-3242C>T (n.41-3242C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.46704354G>C | CA406489319 | PRKD2 | c.704C>G (p.Pro235Arg) c.439C>G (n.439C>G) c.233C>G (p.Pro78Arg) c.41-3242C>G (n.41-3242C>G) | gnomAD v4 |
19 | g.46704354G= | CA2339041922 | PRKD2 | c.704C= (p.Pro235=) c.439C= (n.439C=) c.233C= (p.Pro78=) c.41-3242C= (n.41-3242C=) | |
19 | g.46704354G>T | CA406489321 | PRKD2 | c.704C>A (p.Pro235Gln) c.439C>A (n.439C>A) c.233C>A (p.Pro78Gln) c.41-3242C>A (n.41-3242C>A) | |
19 | g.46704358del | CA507974927 | PRKD2 | c.704del (p.Pro235ArgfsTer?) c.439del (n.439del) c.233del (p.Pro78ArgfsTer?) c.41-3242del (n.41-3242del) | COSMIC |
19 | g.46704355G>A | CA406489322 | PRKD2 | c.703C>T (p.Pro235Ser) c.438C>T (n.438C>T) c.232C>T (p.Pro78Ser) c.41-3243C>T (n.41-3243C>T) | dbSNP gnomAD v4 |
19 | g.46704355G>C | CA406489323 | PRKD2 | c.703C>G (p.Pro235Ala) c.438C>G (n.438C>G) c.232C>G (p.Pro78Ala) c.41-3243C>G (n.41-3243C>G) | |
19 | g.46704355G= | CA2339041923 | PRKD2 | c.703C= (p.Pro235=) c.438C= (n.438C=) c.232C= (p.Pro78=) c.41-3243C= (n.41-3243C=) | |
19 | g.46704355G>T | CA406489325 | PRKD2 | c.703C>A (p.Pro235Thr) c.438C>A (n.438C>A) c.232C>A (p.Pro78Thr) c.41-3243C>A (n.41-3243C>A) | |
19 | g.46704356G>A | CA507974929 | PRKD2 | c.702C>T (p.Pro234=) c.437C>T (n.437C>T) c.231C>T (p.Pro77=) c.41-3244C>T (n.41-3244C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.46704356G>C | CA507974930 | PRKD2 | c.702C>G (p.Pro234=) c.437C>G (n.437C>G) c.231C>G (p.Pro77=) c.41-3244C>G (n.41-3244C>G) | gnomAD v4 |
19 | g.46704356G= | CA2339041924 | PRKD2 | c.702C= (p.Pro234=) c.437C= (n.437C=) c.231C= (p.Pro77=) c.41-3244C= (n.41-3244C=) | |
19 | g.46704356G>T | CA507974931 | PRKD2 | c.702C>A (p.Pro234=) c.437C>A (n.437C>A) c.231C>A (p.Pro77=) c.41-3244C>A (n.41-3244C>A) | |
19 | g.46704357G>A | CA406489327 | PRKD2 | c.701C>T (p.Pro234Leu) c.436C>T (n.436C>T) c.230C>T (p.Pro77Leu) c.41-3245C>T (n.41-3245C>T) | gnomAD v4 |
19 | g.46704357G>C | CA406489330 | PRKD2 | c.701C>G (p.Pro234Arg) c.436C>G (n.436C>G) c.230C>G (p.Pro77Arg) c.41-3245C>G (n.41-3245C>G) | gnomAD v4 |
19 | g.46704357G>T | CA406489329 | PRKD2 | c.701C>A (p.Pro234His) c.436C>A (n.436C>A) c.230C>A (p.Pro77His) c.41-3245C>A (n.41-3245C>A) | |
19 | g.46704357_46704363delinsGGACGGC | CA2339041925 | PRKD2 | c.695_701delinsGCCGTCC (p.Arg232=) c.430_436delinsGCCGTCC (n.430_436delinsGCCGTCC) c.224_230delinsGCCGTCC (p.Arg75=) c.41-3251_41-3245delinsGCCGTCC (n.41-3251_41-3245delinsGCCGTCC) | |
19 | g.46704358G>A | CA309105348 | PRKD2 | c.700C>T (p.Pro234Ser) c.435C>T (n.435C>T) c.229C>T (p.Pro77Ser) c.41-3246C>T (n.41-3246C>T) | dbSNP gnomAD v4 |
19 | g.46704358G>C | CA406489331 | PRKD2 | c.700C>G (p.Pro234Ala) c.435C>G (n.435C>G) c.229C>G (p.Pro77Ala) c.41-3246C>G (n.41-3246C>G) | |
19 | g.46704358G= | CA2339041927 | PRKD2 | c.700C= (p.Pro234=) c.435C= (n.435C=) c.229C= (p.Pro77=) c.41-3246C= (n.41-3246C=) | |
19 | g.46704358G>T | CA406489332 | PRKD2 | c.700C>A (p.Pro234Thr) c.435C>A (n.435C>A) c.229C>A (p.Pro77Thr) c.41-3246C>A (n.41-3246C>A) | |
19 | g.46704360_46704365del | CA2339041926 | PRKD2 | c.695_700del (p.Arg232_Arg233del) c.430_435del (n.430_435del) c.224_229del (p.Arg75_Arg76del) c.41-3251_41-3246del (n.41-3251_41-3246del) | dbSNP |
19 | g.46704359A= | CA2339041928 | PRKD2 | c.699T= (p.Arg233=) c.434T= (n.434T=) c.228T= (p.Arg76=) c.41-3247T= (n.41-3247T=) | |
19 | g.46704359A>C | CA507974932 | PRKD2 | c.699T>G (p.Arg233=) c.434T>G (n.434T>G) c.228T>G (p.Arg76=) c.41-3247T>G (n.41-3247T>G) | |
19 | g.46704359A>G | CA9531056 | PRKD2 | c.699T>C (p.Arg233=) c.434T>C (n.434T>C) c.228T>C (p.Arg76=) c.41-3247T>C (n.41-3247T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.46704359A>T | CA507974933 | PRKD2 | c.699T>A (p.Arg233=) c.434T>A (n.434T>A) c.228T>A (p.Arg76=) c.41-3247T>A (n.41-3247T>A) | |
19 | g.46704360C>A | CA9531058 | PRKD2 | c.698G>T (p.Arg233Leu) c.433G>T (n.433G>T) c.227G>T (p.Arg76Leu) c.41-3248G>T (n.41-3248G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.46704360C= | CA2339041929 | PRKD2 | c.698G= (p.Arg233=) c.433G= (n.433G=) c.227G= (p.Arg76=) c.41-3248G= (n.41-3248G=) | |
19 | g.46704360C>G | CA406489335 | PRKD2 | c.698G>C (p.Arg233Pro) c.433G>C (n.433G>C) c.227G>C (p.Arg76Pro) c.41-3248G>C (n.41-3248G>C) | |
19 | g.46704360C>T | CA9531057 | PRKD2 | c.698G>A (p.Arg233His) c.433G>A (n.433G>A) c.227G>A (p.Arg76His) c.41-3248G>A (n.41-3248G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.46704361G>A | CA9531059 | PRKD2 | c.697C>T (p.Arg233Cys) c.432C>T (n.432C>T) c.226C>T (p.Arg76Cys) c.41-3249C>T (n.41-3249C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.46704361G>C | CA406489337 | PRKD2 | c.697C>G (p.Arg233Gly) c.432C>G (n.432C>G) c.226C>G (p.Arg76Gly) c.41-3249C>G (n.41-3249C>G) | |
19 | g.46704361G= | CA2339041930 | PRKD2 | c.697C= (p.Arg233=) c.432C= (n.432C=) c.226C= (p.Arg76=) c.41-3249C= (n.41-3249C=) | |
19 | g.46704361G>T | CA406489338 | PRKD2 | c.697C>A (p.Arg233Ser) c.432C>A (n.432C>A) c.226C>A (p.Arg76Ser) c.41-3249C>A (n.41-3249C>A) | |
19 | g.46704362G>A | CA507974935 | PRKD2 | c.696C>T (p.Arg232=) c.431C>T (n.431C>T) c.225C>T (p.Arg75=) c.41-3250C>T (n.41-3250C>T) | COSMIC |
19 | g.46704362G>C | CA507974936 | PRKD2 | c.696C>G (p.Arg232=) c.431C>G (n.431C>G) c.225C>G (p.Arg75=) c.41-3250C>G (n.41-3250C>G) | |
19 | g.46704362G>T | CA507974937 | PRKD2 | c.696C>A (p.Arg232=) c.431C>A (n.431C>A) c.225C>A (p.Arg75=) c.41-3250C>A (n.41-3250C>A) | |
19 | g.46704363C>A | CA406489341 | PRKD2 | c.695G>T (p.Arg232Leu) c.430G>T (n.430G>T) c.224G>T (p.Arg75Leu) c.41-3251G>T (n.41-3251G>T) | |
19 | g.46704363C>G | CA406489340 | PRKD2 | c.695G>C (p.Arg232Pro) c.430G>C (n.430G>C) c.224G>C (p.Arg75Pro) c.41-3251G>C (n.41-3251G>C) | |
19 | g.46704363C>T | CA406489339 | PRKD2 | c.695G>A (p.Arg232His) c.430G>A (n.430G>A) c.224G>A (p.Arg75His) c.41-3251G>A (n.41-3251G>A) | gnomAD v4 |
19 | g.46704364G>A | CA406489346 | PRKD2 | c.694C>T (p.Arg232Cys) c.429C>T (n.429C>T) c.223C>T (p.Arg75Cys) c.41-3252C>T (n.41-3252C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.46704364G>C | CA406489343 | PRKD2 | c.694C>G (p.Arg232Gly) c.429C>G (n.429C>G) c.223C>G (p.Arg75Gly) c.41-3252C>G (n.41-3252C>G) | |
19 | g.46704364G= | CA2339041931 | PRKD2 | c.694C= (p.Arg232=) c.429C= (n.429C=) c.223C= (p.Arg75=) c.41-3252C= (n.41-3252C=) | |
19 | g.46704364G>T | CA406489344 | PRKD2 | c.694C>A (p.Arg232Ser) c.429C>A (n.429C>A) c.223C>A (p.Arg75Ser) c.41-3252C>A (n.41-3252C>A) | |
19 | g.46704365A>C | CA507974941 | PRKD2 | c.693T>G (p.Pro231=) c.428T>G (n.428T>G) c.222T>G (p.Pro74=) c.41-3253T>G (n.41-3253T>G) | |
19 | g.46704365A>G | CA507974942 | PRKD2 | c.693T>C (p.Pro231=) c.428T>C (n.428T>C) c.222T>C (p.Pro74=) c.41-3253T>C (n.41-3253T>C) | |
19 | g.46704365A>T | CA507974943 | PRKD2 | c.693T>A (p.Pro231=) c.428T>A (n.428T>A) c.222T>A (p.Pro74=) c.41-3253T>A (n.41-3253T>A) | |
19 | g.46704366G>A | CA406489348 | PRKD2 | c.692C>T (p.Pro231Leu) c.427C>T (n.427C>T) c.221C>T (p.Pro74Leu) c.41-3254C>T (n.41-3254C>T) | |
19 | g.46704366G>C | CA406489349 | PRKD2 | c.692C>G (p.Pro231Arg) c.427C>G (n.427C>G) c.221C>G (p.Pro74Arg) c.41-3254C>G (n.41-3254C>G) | |
19 | g.46704366G= | CA2339041932 | PRKD2 | c.692C= (p.Pro231=) c.427C= (n.427C=) c.221C= (p.Pro74=) c.41-3254C= (n.41-3254C=) | |
19 | g.46704366G>T | CA406489350 | PRKD2 | c.692C>A (p.Pro231His) c.427C>A (n.427C>A) c.221C>A (p.Pro74His) c.41-3254C>A (n.41-3254C>A) | dbSNP |
19 | g.46704367G>A | CA406489355 | PRKD2 | c.691C>T (p.Pro231Ser) c.426C>T (n.426C>T) c.220C>T (p.Pro74Ser) c.41-3255C>T (n.41-3255C>T) | |
19 | g.46704367G>C | CA406489354 | PRKD2 | c.691C>G (p.Pro231Ala) c.426C>G (n.426C>G) c.220C>G (p.Pro74Ala) c.41-3255C>G (n.41-3255C>G) | |
19 | g.46704367G>T | CA406489352 | PRKD2 | c.691C>A (p.Pro231Thr) c.426C>A (n.426C>A) c.220C>A (p.Pro74Thr) c.41-3255C>A (n.41-3255C>A) | |
19 | g.46704368C>A | CA9531060 | PRKD2 | c.690G>T (p.Leu230=) c.425G>T (n.425G>T) c.219G>T (p.Leu73=) c.41-3256G>T (n.41-3256G>T) | dbSNP ExAC gnomAD v2 |
19 | g.46704368C= | CA2339041933 | PRKD2 | c.690G= (p.Leu230=) c.425G= (n.425G=) c.219G= (p.Leu73=) c.41-3256G= (n.41-3256G=) | |
19 | g.46704368C>G | CA507974946 | PRKD2 | c.690G>C (p.Leu230=) c.425G>C (n.425G>C) c.219G>C (p.Leu73=) c.41-3256G>C (n.41-3256G>C) | |
19 | g.46704368C>T | CA507974947 | PRKD2 | c.690G>A (p.Leu230=) c.425G>A (n.425G>A) c.219G>A (p.Leu73=) c.41-3256G>A (n.41-3256G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.46704369A>C | CA406489357 | PRKD2 | c.689T>G (p.Leu230Arg) c.424T>G (n.424T>G) c.218T>G (p.Leu73Arg) c.41-3257T>G (n.41-3257T>G) | |
19 | g.46704369A>G | CA406489358 | PRKD2 | c.689T>C (p.Leu230Pro) c.424T>C (n.424T>C) c.218T>C (p.Leu73Pro) c.41-3257T>C (n.41-3257T>C) | |
19 | g.46704369A>T | CA406489359 | PRKD2 | c.689T>A (p.Leu230Gln) c.424T>A (n.424T>A) c.218T>A (p.Leu73Gln) c.41-3257T>A (n.41-3257T>A) | |
19 | g.46704370G>A | CA507974950 | PRKD2 | c.688C>T (p.Leu230=) c.423C>T (n.423C>T) c.217C>T (p.Leu73=) c.41-3258C>T (n.41-3258C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.46704370G>C | CA406489361 | PRKD2 | c.688C>G (p.Leu230Val) c.423C>G (n.423C>G) c.217C>G (p.Leu73Val) c.41-3258C>G (n.41-3258C>G) | |
19 | g.46704370G= | CA2339041934 | PRKD2 | c.688C= (p.Leu230=) c.423C= (n.423C=) c.217C= (p.Leu73=) c.41-3258C= (n.41-3258C=) | |
19 | g.46704370G>T | CA406489362 | PRKD2 | c.688C>A (p.Leu230Met) c.423C>A (n.423C>A) c.217C>A (p.Leu73Met) c.41-3258C>A (n.41-3258C>A) | |
19 | g.46704371G>A | CA507974952 | PRKD2 | c.687C>T (p.Leu229=) c.422C>T (n.422C>T) c.216C>T (p.Leu72=) c.41-3259C>T (n.41-3259C>T) | dbSNP gnomAD v4 |
19 | g.46704371G>C | CA507974953 | PRKD2 | c.687C>G (p.Leu229=) c.422C>G (n.422C>G) c.216C>G (p.Leu72=) c.41-3259C>G (n.41-3259C>G) | |
19 | g.46704371G= | CA2339041935 | PRKD2 | c.687C= (p.Leu229=) c.422C= (n.422C=) c.216C= (p.Leu72=) c.41-3259C= (n.41-3259C=) | |
19 | g.46704371G>T | CA507974954 | PRKD2 | c.687C>A (p.Leu229=) c.422C>A (n.422C>A) c.216C>A (p.Leu72=) c.41-3259C>A (n.41-3259C>A) | |
19 | g.46704372A= | CA2339041936 | PRKD2 | c.686T= (p.Leu229=) c.421T= (n.421T=) c.215T= (p.Leu72=) c.41-3260T= (n.41-3260T=) | |
19 | g.46704372A>C | CA406489364 | PRKD2 | c.686T>G (p.Leu229Arg) c.421T>G (n.421T>G) c.215T>G (p.Leu72Arg) c.41-3260T>G (n.41-3260T>G) | |
19 | g.46704372A>G | CA406489367 | PRKD2 | c.686T>C (p.Leu229Pro) c.421T>C (n.421T>C) c.215T>C (p.Leu72Pro) c.41-3260T>C (n.41-3260T>C) | dbSNP |
19 | g.46704372A>T | CA406489365 | PRKD2 | c.686T>A (p.Leu229His) c.421T>A (n.421T>A) c.215T>A (p.Leu72His) c.41-3260T>A (n.41-3260T>A) | |
19 | g.46704373G>A | CA9531062 | PRKD2 | c.685C>T (p.Leu229Phe) c.420C>T (n.420C>T) c.214C>T (p.Leu72Phe) c.41-3261C>T (n.41-3261C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.46704373G>C | CA9531061 | PRKD2 | c.685C>G (p.Leu229Val) c.420C>G (n.420C>G) c.214C>G (p.Leu72Val) c.41-3261C>G (n.41-3261C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.46704373G= | CA2339041937 | PRKD2 | c.685C= (p.Leu229=) c.420C= (n.420C=) c.214C= (p.Leu72=) c.41-3261C= (n.41-3261C=) | |
19 | g.46704373G>T | CA406489370 | PRKD2 | c.685C>A (p.Leu229Ile) c.420C>A (n.420C>A) c.214C>A (p.Leu72Ile) c.41-3261C>A (n.41-3261C>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.46704374T>A | CA406489371 | PRKD2 | c.684A>T (p.Glu228Asp) c.419A>T (n.419A>T) c.213A>T (p.Glu71Asp) c.41-3262A>T (n.41-3262A>T) | |
19 | g.46704374T>C | CA507974957 | PRKD2 | c.684A>G (p.Glu228=) c.419A>G (n.419A>G) c.213A>G (p.Glu71=) c.41-3262A>G (n.41-3262A>G) | |
19 | g.46704374T>G | CA406489373 | PRKD2 | c.684A>C (p.Glu228Asp) c.419A>C (n.419A>C) c.213A>C (p.Glu71Asp) c.41-3262A>C (n.41-3262A>C) | gnomAD v3 gnomAD v4 |
19 | g.46704375_46704376insTTT | CA2585971176 | PRKD2 | c.684_685insAAA (p.Glu228_Leu229insLys) c.419_420insAAA (n.419_420insAAA) c.213_214insAAA (p.Glu71_Leu72insLys) c.41-3262_41-3261insAAA (n.41-3262_41-3261insAAA) | gnomAD v4 |
19 | g.46704375T>A | CA406489375 | PRKD2 | c.683A>T (p.Glu228Val) c.418A>T (n.418A>T) c.212A>T (p.Glu71Val) c.41-3263A>T (n.41-3263A>T) | |
19 | g.46704375T>C | CA406489376 | PRKD2 | c.683A>G (p.Glu228Gly) c.418A>G (n.418A>G) c.212A>G (p.Glu71Gly) c.41-3263A>G (n.41-3263A>G) | |
19 | g.46704375T>G | CA406489377 | PRKD2 | c.683A>C (p.Glu228Ala) c.418A>C (n.418A>C) c.212A>C (p.Glu71Ala) c.41-3263A>C (n.41-3263A>C) | |
19 | g.46704376C>A | CA406489379 | PRKD2 | c.682G>T (p.Glu228Ter) c.417G>T (n.417G>T) c.211G>T (p.Glu71Ter) c.41-3264G>T (n.41-3264G>T) | |
19 | g.46704376C= | CA2339041938 | PRKD2 | c.682G= (p.Glu228=) c.417G= (n.417G=) c.211G= (p.Glu71=) c.41-3264G= (n.41-3264G=) | |
19 | g.46704376C>G | CA406489381 | PRKD2 | c.682G>C (p.Glu228Gln) c.417G>C (n.417G>C) c.211G>C (p.Glu71Gln) c.41-3264G>C (n.41-3264G>C) | |
19 | g.46704376C>T | CA9531063 | PRKD2 | c.682G>A (p.Glu228Lys) c.417G>A (n.417G>A) c.211G>A (p.Glu71Lys) c.41-3264G>A (n.41-3264G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |