Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.46704281G>ACA309105294PRKD2c.777C>T (p.Ser259=)
c.306C>T (p.Ser102=)
c.41-3169C>T (n.41-3169C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.46704281G>CCA507974855PRKD2c.777C>G (p.Ser259=)
c.306C>G (p.Ser102=)
c.41-3169C>G (n.41-3169C>G)
19g.46704281G=CA2339041889PRKD2c.777C= (p.Ser259=)
c.306C= (p.Ser102=)
c.41-3169C= (n.41-3169C=)
19g.46704281G>TCA507974854PRKD2c.777C>A (p.Ser259=)
c.306C>A (p.Ser102=)
c.41-3169C>A (n.41-3169C>A)
19g.46704282G>ACA309105297PRKD2c.776C>T (p.Ser259Phe)
c.305C>T (p.Ser102Phe)
c.41-3170C>T (n.41-3170C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.46704282G>CCA9531039PRKD2c.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
19g.46704282G=CA2339041890PRKD2c.776C= (p.Ser259=)
c.305C= (p.Ser102=)
c.41-3170C= (n.41-3170C=)
19g.46704282G>TCA406489069PRKD2c.776C>A (p.Ser259Tyr)
c.305C>A (p.Ser102Tyr)
c.41-3170C>A (n.41-3170C>A)
19g.46704283A>CCA406489071PRKD2c.775T>G (p.Ser259Ala)
c.304T>G (p.Ser102Ala)
c.41-3171T>G (n.41-3171T>G)
19g.46704283A>GCA406489073PRKD2c.775T>C (p.Ser259Pro)
c.304T>C (p.Ser102Pro)
c.41-3171T>C (n.41-3171T>C)
19g.46704283A>TCA406489074PRKD2c.775T>A (p.Ser259Thr)
c.304T>A (p.Ser102Thr)
c.41-3171T>A (n.41-3171T>A)
19g.46704284G>ACA507974856PRKD2c.774C>T (p.Leu258=)
c.303C>T (p.Leu101=)
c.41-3172C>T (n.41-3172C>T)
dbSNP gnomAD v3 gnomAD v4
19g.46704284G>CCA507974858PRKD2c.774C>G (p.Leu258=)
c.303C>G (p.Leu101=)
c.41-3172C>G (n.41-3172C>G)
19g.46704284G=CA2339041891PRKD2c.774C= (p.Leu258=)
c.303C= (p.Leu101=)
c.41-3172C= (n.41-3172C=)
19g.46704284G>TCA507974857PRKD2c.774C>A (p.Leu258=)
c.303C>A (p.Leu101=)
c.41-3172C>A (n.41-3172C>A)
19g.46704285A>CCA406489077PRKD2c.773T>G (p.Leu258Arg)
c.302T>G (p.Leu101Arg)
c.41-3173T>G (n.41-3173T>G)
19g.46704285A>GCA406489078PRKD2c.773T>C (p.Leu258Pro)
c.302T>C (p.Leu101Pro)
c.41-3173T>C (n.41-3173T>C)
gnomAD v4
19g.46704285A>TCA406489076PRKD2c.773T>A (p.Leu258His)
c.302T>A (p.Leu101His)
c.41-3173T>A (n.41-3173T>A)
19g.46704286G>ACA406489080PRKD2c.772C>T (p.Leu258Phe)
c.301C>T (p.Leu101Phe)
c.41-3174C>T (n.41-3174C>T)
gnomAD v4
19g.46704286G>CCA406489082PRKD2c.772C>G (p.Leu258Val)
c.301C>G (p.Leu101Val)
c.41-3174C>G (n.41-3174C>G)
19g.46704286G>TCA406489083PRKD2c.772C>A (p.Leu258Ile)
c.301C>A (p.Leu101Ile)
c.41-3174C>A (n.41-3174C>A)
19g.46704287C>ACA507974859PRKD2c.771G>T (p.Leu257=)
c.300G>T (p.Leu100=)
c.41-3175G>T (n.41-3175G>T)
19g.46704287C>GCA507974860PRKD2c.771G>C (p.Leu257=)
c.300G>C (p.Leu100=)
c.41-3175G>C (n.41-3175G>C)
19g.46704287C>TCA507974861PRKD2c.771G>A (p.Leu257=)
c.300G>A (p.Leu100=)
c.41-3175G>A (n.41-3175G>A)
gnomAD v4
19g.46704288A>CCA406489085PRKD2c.770T>G (p.Leu257Arg)
c.299T>G (p.Leu100Arg)
c.41-3176T>G (n.41-3176T>G)
19g.46704288A>GCA406489087PRKD2c.770T>C (p.Leu257Pro)
c.299T>C (p.Leu100Pro)
c.41-3176T>C (n.41-3176T>C)
19g.46704288A>TCA406489089PRKD2c.770T>A (p.Leu257Gln)
c.299T>A (p.Leu100Gln)
c.41-3176T>A (n.41-3176T>A)
19g.46704289G>ACA507974862PRKD2c.769C>T (p.Leu257=)
c.298C>T (p.Leu100=)
c.41-3177C>T (n.41-3177C>T)
dbSNP gnomAD v2 gnomAD v4
19g.46704289G>CCA406489090PRKD2c.769C>G (p.Leu257Val)
c.298C>G (p.Leu100Val)
c.41-3177C>G (n.41-3177C>G)
19g.46704289G=CA2339041892PRKD2c.769C= (p.Leu257=)
c.298C= (p.Leu100=)
c.41-3177C= (n.41-3177C=)
19g.46704289G>TCA406489091PRKD2c.769C>A (p.Leu257Met)
c.298C>A (p.Leu100Met)
c.41-3177C>A (n.41-3177C>A)
19g.46704290C>ACA406489092PRKD2c.768G>T (p.Met256Ile)
c.297G>T (p.Met99Ile)
c.41-3178G>T (n.41-3178G>T)
19g.46704290C>GCA406489093PRKD2c.768G>C (p.Met256Ile)
c.297G>C (p.Met99Ile)
c.41-3178G>C (n.41-3178G>C)
19g.46704290C>TCA406489095PRKD2c.768G>A (p.Met256Ile)
c.297G>A (p.Met99Ile)
c.41-3178G>A (n.41-3178G>A)
19g.46704291A>CCA406489097PRKD2c.767T>G (p.Met256Arg)
c.296T>G (p.Met99Arg)
c.41-3179T>G (n.41-3179T>G)
19g.46704291A>GCA406489098PRKD2c.767T>C (p.Met256Thr)
c.296T>C (p.Met99Thr)
c.41-3179T>C (n.41-3179T>C)
19g.46704291A>TCA406489099PRKD2c.767T>A (p.Met256Lys)
c.296T>A (p.Met99Lys)
c.41-3179T>A (n.41-3179T>A)
19g.46704292T>ACA406489103PRKD2c.766A>T (p.Met256Leu)
c.295A>T (p.Met99Leu)
c.41-3180A>T (n.41-3180A>T)
19g.46704292T>CCA406489105PRKD2c.766A>G (p.Met256Val)
c.295A>G (p.Met99Val)
c.41-3180A>G (n.41-3180A>G)
19g.46704292T>GCA406489101PRKD2c.766A>C (p.Met256Leu)
c.295A>C (p.Met99Leu)
c.41-3180A>C (n.41-3180A>C)
19g.46704293C>ACA406489112PRKD2c.765G>T (p.Lys255Asn)
c.294G>T (p.Lys98Asn)
c.41-3181G>T (n.41-3181G>T)
19g.46704293C>GCA406489109PRKD2c.765G>C (p.Lys255Asn)
c.294G>C (p.Lys98Asn)
c.41-3181G>C (n.41-3181G>C)
19g.46704293C>TCA507974863PRKD2c.765G>A (p.Lys255=)
c.294G>A (p.Lys98=)
c.41-3181G>A (n.41-3181G>A)
19g.46704294T>ACA406489114PRKD2c.764A>T (p.Lys255Met)
c.293A>T (p.Lys98Met)
c.41-3182A>T (n.41-3182A>T)
19g.46704294T>CCA406489116PRKD2c.764A>G (p.Lys255Arg)
c.293A>G (p.Lys98Arg)
c.41-3182A>G (n.41-3182A>G)
19g.46704294T>GCA406489118PRKD2c.764A>C (p.Lys255Thr)
c.293A>C (p.Lys98Thr)
c.41-3182A>C (n.41-3182A>C)
19g.46704295T>ACA406489120PRKD2c.763A>T (p.Lys255Ter)
c.292A>T (p.Lys98Ter)
c.41-3183A>T (n.41-3183A>T)
19g.46704295T>CCA406489121PRKD2c.763A>G (p.Lys255Glu)
c.292A>G (p.Lys98Glu)
c.41-3183A>G (n.41-3183A>G)
19g.46704295T>GCA406489123PRKD2c.763A>C (p.Lys255Gln)
c.292A>C (p.Lys98Gln)
c.41-3183A>C (n.41-3183A>C)
19g.46704296G>ACA507974864PRKD2c.762C>T (p.Asp254=)
c.291C>T (p.Asp97=)
c.41-3184C>T (n.41-3184C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.46704296G>CCA406489125PRKD2c.762C>G (p.Asp254Glu)
c.291C>G (p.Asp97Glu)
c.41-3184C>G (n.41-3184C>G)
19g.46704296G=CA2339041893PRKD2c.762C= (p.Asp254=)
c.291C= (p.Asp97=)
c.41-3184C= (n.41-3184C=)
19g.46704296G>TCA309105303PRKD2c.762C>A (p.Asp254Glu)
c.291C>A (p.Asp97Glu)
c.41-3184C>A (n.41-3184C>A)
dbSNP gnomAD v4
19g.46704297T>ACA406489128PRKD2c.761A>T (p.Asp254Val)
c.290A>T (p.Asp97Val)
c.41-3185A>T (n.41-3185A>T)
19g.46704297T>CCA406489129PRKD2c.761A>G (p.Asp254Gly)
c.290A>G (p.Asp97Gly)
c.41-3185A>G (n.41-3185A>G)
19g.46704297T>GCA406489131PRKD2c.761A>C (p.Asp254Ala)
c.290A>C (p.Asp97Ala)
c.41-3185A>C (n.41-3185A>C)
19g.46704298C>ACA406489134PRKD2c.760G>T (p.Asp254Tyr)
c.289G>T (p.Asp97Tyr)
c.41-3186G>T (n.41-3186G>T)
19g.46704298C>GCA406489135PRKD2c.760G>C (p.Asp254His)
c.289G>C (p.Asp97His)
c.41-3186G>C (n.41-3186G>C)
19g.46704298C>TCA406489137PRKD2c.760G>A (p.Asp254Asn)
c.289G>A (p.Asp97Asn)
c.41-3186G>A (n.41-3186G>A)
19g.46704299C>ACA9531041PRKD2c.759G>T (p.Leu253=)
c.288G>T (p.Leu96=)
c.41-3187G>T (n.41-3187G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.46704299C=CA2339041894PRKD2c.759G= (p.Leu253=)
c.288G= (p.Leu96=)
c.41-3187G= (n.41-3187G=)
19g.46704299C>GCA507974867PRKD2c.759G>C (p.Leu253=)
c.288G>C (p.Leu96=)
c.41-3187G>C (n.41-3187G>C)
19g.46704299C>TCA9531040PRKD2c.759G>A (p.Leu253=)
c.288G>A (p.Leu96=)
c.41-3187G>A (n.41-3187G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.46704300A>CCA406489141PRKD2c.758T>G (p.Leu253Arg)
c.287T>G (p.Leu96Arg)
c.41-3188T>G (n.41-3188T>G)
19g.46704300A>GCA406489143PRKD2c.758T>C (p.Leu253Pro)
c.287T>C (p.Leu96Pro)
c.41-3188T>C (n.41-3188T>C)
19g.46704300A>TCA406489144PRKD2c.758T>A (p.Leu253Gln)
c.287T>A (p.Leu96Gln)
c.41-3188T>A (n.41-3188T>A)
19g.46704301G>ACA507974868PRKD2c.757C>T (p.Leu253=)
c.286C>T (p.Leu96=)
c.41-3189C>T (n.41-3189C>T)
dbSNP gnomAD v4
19g.46704301G>CCA406489146PRKD2c.757C>G (p.Leu253Val)
c.286C>G (p.Leu96Val)
c.41-3189C>G (n.41-3189C>G)
gnomAD v4
19g.46704301G=CA2339041895PRKD2c.757C= (p.Leu253=)
c.286C= (p.Leu96=)
c.41-3189C= (n.41-3189C=)
19g.46704301G>TCA406489147PRKD2c.757C>A (p.Leu253Met)
c.286C>A (p.Leu96Met)
c.41-3189C>A (n.41-3189C>A)
19g.46704302C>ACA406489149PRKD2c.756G>T (p.Glu252Asp)
c.285G>T (p.Glu95Asp)
c.41-3190G>T (n.41-3190G>T)
19g.46704302C>GCA406489150PRKD2c.756G>C (p.Glu252Asp)
c.285G>C (p.Glu95Asp)
c.41-3190G>C (n.41-3190G>C)
gnomAD v4
19g.46704302C>TCA507974871PRKD2c.756G>A (p.Glu252=)
c.285G>A (p.Glu95=)
c.41-3190G>A (n.41-3190G>A)
19g.46704303T>ACA406489151PRKD2c.755A>T (p.Glu252Val)
c.284A>T (p.Glu95Val)
c.41-3191A>T (n.41-3191A>T)
19g.46704303T>CCA406489152PRKD2c.755A>G (p.Glu252Gly)
c.284A>G (p.Glu95Gly)
c.41-3191A>G (n.41-3191A>G)
19g.46704303T>GCA406489153PRKD2c.755A>C (p.Glu252Ala)
c.284A>C (p.Glu95Ala)
c.41-3191A>C (n.41-3191A>C)
19g.46704304C>ACA406489154PRKD2c.754G>T (p.Glu252Ter)
c.283G>T (p.Glu95Ter)
c.41-3192G>T (n.41-3192G>T)
19g.46704304C=CA2339041896PRKD2c.754G= (p.Glu252=)
c.283G= (p.Glu95=)
c.41-3192G= (n.41-3192G=)
19g.46704304C>GCA406489156PRKD2c.754G>C (p.Glu252Gln)
c.283G>C (p.Glu95Gln)
c.41-3192G>C (n.41-3192G>C)
19g.46704304C>TCA9531042PRKD2c.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
19g.46704305A=CA2339041897PRKD2c.753T= (p.Ile251=)
c.282T= (p.Ile94=)
c.41-3193T= (n.41-3193T=)
19g.46704305A>CCA406489158PRKD2c.753T>G (p.Ile251Met)
c.282T>G (p.Ile94Met)
c.41-3193T>G (n.41-3193T>G)
19g.46704305A>GCA9531043PRKD2c.753T>C (p.Ile251=)
c.282T>C (p.Ile94=)
c.41-3193T>C (n.41-3193T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.46704305A>TCA507974874PRKD2c.753T>A (p.Ile251=)
c.282T>A (p.Ile94=)
c.41-3193T>A (n.41-3193T>A)
19g.46704306A=CA2339041898PRKD2c.752T= (p.Ile251=)
c.281T= (p.Ile94=)
c.41-3194T= (n.41-3194T=)
19g.46704306A>CCA406489160PRKD2c.752T>G (p.Ile251Ser)
c.281T>G (p.Ile94Ser)
c.41-3194T>G (n.41-3194T>G)
19g.46704306A>GCA309105313PRKD2c.752T>C (p.Ile251Thr)
c.281T>C (p.Ile94Thr)
c.41-3194T>C (n.41-3194T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.46704306A>TCA406489163PRKD2c.752T>A (p.Ile251Asn)
c.281T>A (p.Ile94Asn)
c.41-3194T>A (n.41-3194T>A)
19g.46704307T>ACA406489165PRKD2c.751A>T (p.Ile251Phe)
c.280A>T (p.Ile94Phe)
c.41-3195A>T (n.41-3195A>T)
19g.46704307T>CCA9531044PRKD2c.751A>G (p.Ile251Val)
c.280A>G (p.Ile94Val)
c.41-3195A>G (n.41-3195A>G)
dbSNP ExAC gnomAD v4
19g.46704307T>GCA406489168PRKD2c.751A>C (p.Ile251Leu)
c.280A>C (p.Ile94Leu)
c.41-3195A>C (n.41-3195A>C)
19g.46704307T=CA2339041899PRKD2c.751A= (p.Ile251=)
c.280A= (p.Ile94=)
c.41-3195A= (n.41-3195A=)
19g.46704308G>ACA507974875PRKD2c.750C>T (p.Pro250=)
c.279C>T (p.Pro93=)
c.41-3196C>T (n.41-3196C>T)
19g.46704308G>CCA507974876PRKD2c.750C>G (p.Pro250=)
c.279C>G (p.Pro93=)
c.41-3196C>G (n.41-3196C>G)
19g.46704308G>TCA507974877PRKD2c.750C>A (p.Pro250=)
c.279C>A (p.Pro93=)
c.41-3196C>A (n.41-3196C>A)
19g.46704309G>ACA406489174PRKD2c.749C>T (p.Pro250Leu)
c.278C>T (p.Pro93Leu)
c.41-3197C>T (n.41-3197C>T)
19g.46704309G>CCA406489172PRKD2c.749C>G (p.Pro250Arg)
c.278C>G (p.Pro93Arg)
c.41-3197C>G (n.41-3197C>G)
19g.46704309G>TCA406489170PRKD2c.749C>A (p.Pro250His)
c.278C>A (p.Pro93His)
c.41-3197C>A (n.41-3197C>A)
19g.46704310G>ACA406489175PRKD2c.748C>T (p.Pro250Ser)
c.277C>T (p.Pro93Ser)
c.41-3198C>T (n.41-3198C>T)
19g.46704310G>CCA406489177PRKD2c.748C>G (p.Pro250Ala)
c.277C>G (p.Pro93Ala)
c.41-3198C>G (n.41-3198C>G)
19g.46704310G>TCA406489179PRKD2c.748C>A (p.Pro250Thr)
c.277C>A (p.Pro93Thr)
c.41-3198C>A (n.41-3198C>A)
19g.46704311G>ACA507974878PRKD2c.747C>T (p.Arg249=)
c.276C>T (p.Arg92=)
c.41-3199C>T (n.41-3199C>T)
19g.46704311G>CCA507974880PRKD2c.747C>G (p.Arg249=)
c.276C>G (p.Arg92=)
c.41-3199C>G (n.41-3199C>G)
19g.46704311G>TCA507974879PRKD2c.747C>A (p.Arg249=)
c.276C>A (p.Arg92=)
c.41-3199C>A (n.41-3199C>A)
19g.46704312C>ACA406489180PRKD2c.746G>T (p.Arg249Leu)
c.275G>T (p.Arg92Leu)
c.41-3200G>T (n.41-3200G>T)
19g.46704312C=CA2339041900PRKD2c.746G= (p.Arg249=)
c.275G= (p.Arg92=)
c.41-3200G= (n.41-3200G=)
19g.46704312C>GCA406489182PRKD2c.746G>C (p.Arg249Pro)
c.275G>C (p.Arg92Pro)
c.41-3200G>C (n.41-3200G>C)
19g.46704312C>TCA309105319PRKD2c.746G>A (p.Arg249His)
c.275G>A (p.Arg92His)
c.41-3200G>A (n.41-3200G>A)
dbSNP gnomAD v2 gnomAD v4
19g.46704313G>ACA9531045PRKD2c.745C>T (p.Arg249Cys)
c.274C>T (p.Arg92Cys)
c.41-3201C>T (n.41-3201C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.46704313G>CCA406489187PRKD2c.745C>G (p.Arg249Gly)
c.274C>G (p.Arg92Gly)
c.41-3201C>G (n.41-3201C>G)
19g.46704313G=CA2339041901PRKD2c.745C= (p.Arg249=)
c.274C= (p.Arg92=)
c.41-3201C= (n.41-3201C=)
19g.46704313G>TCA406489185PRKD2c.745C>A (p.Arg249Ser)
c.274C>A (p.Arg92Ser)
c.41-3201C>A (n.41-3201C>A)
19g.46704314G>ACA9531046PRKD2c.744C>T (p.Gly248=)
c.273C>T (p.Gly91=)
c.41-3202C>T (n.41-3202C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.46704314G>CCA507974882PRKD2c.744C>G (p.Gly248=)
c.273C>G (p.Gly91=)
c.41-3202C>G (n.41-3202C>G)
19g.46704314G=CA2339041902PRKD2c.744C= (p.Gly248=)
c.273C= (p.Gly91=)
c.41-3202C= (n.41-3202C=)
19g.46704314G>TCA507974881PRKD2c.744C>A (p.Gly248=)
c.273C>A (p.Gly91=)
c.41-3202C>A (n.41-3202C>A)
19g.46704315C>ACA406489189PRKD2c.743G>T (p.Gly248Val)
c.272G>T (p.Gly91Val)
c.41-3203G>T (n.41-3203G>T)
19g.46704315C=CA2339041903PRKD2c.743G= (p.Gly248=)
c.272G= (p.Gly91=)
c.41-3203G= (n.41-3203G=)
19g.46704315C>GCA309105326PRKD2c.743G>C (p.Gly248Ala)
c.272G>C (p.Gly91Ala)
c.41-3203G>C (n.41-3203G>C)
dbSNP
19g.46704315C>TCA406489190PRKD2c.743G>A (p.Gly248Asp)
c.272G>A (p.Gly91Asp)
c.41-3203G>A (n.41-3203G>A)
19g.46704316C>ACA406489192PRKD2c.742G>T (p.Gly248Cys)
c.271G>T (p.Gly91Cys)
c.41-3204G>T (n.41-3204G>T)
19g.46704316C>GCA406489194PRKD2c.742G>C (p.Gly248Arg)
c.271G>C (p.Gly91Arg)
c.41-3204G>C (n.41-3204G>C)
19g.46704316C>TCA406489195PRKD2c.742G>A (p.Gly248Ser)
c.271G>A (p.Gly91Ser)
c.41-3204G>A (n.41-3204G>A)
19g.46704317C>ACA507974883PRKD2c.741G>T (p.Thr247=)
c.270G>T (p.Thr90=)
c.41-3205G>T (n.41-3205G>T)
19g.46704317C=CA2339041904PRKD2c.741G= (p.Thr247=)
c.270G= (p.Thr90=)
c.41-3205G= (n.41-3205G=)
19g.46704317C>GCA507974884PRKD2c.741G>C (p.Thr247=)
c.270G>C (p.Thr90=)
c.41-3205G>C (n.41-3205G>C)
19g.46704317C>TCA309105328PRKD2c.741G>A (p.Thr247=)
c.270G>A (p.Thr90=)
c.41-3205G>A (n.41-3205G>A)
dbSNP gnomAD v2 gnomAD v4
19g.46704318G>ACA9531047PRKD2c.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
19g.46704318G>CCA406489198PRKD2c.740C>G (p.Thr247Arg)
c.269C>G (p.Thr90Arg)
c.41-3206C>G (n.41-3206C>G)
dbSNP gnomAD v3 gnomAD v4
19g.46704318G=CA2339041905PRKD2c.740C= (p.Thr247=)
c.269C= (p.Thr90=)
c.41-3206C= (n.41-3206C=)
19g.46704318G>TCA406489200PRKD2c.740C>A (p.Thr247Lys)
c.269C>A (p.Thr90Lys)
c.41-3206C>A (n.41-3206C>A)
19g.46704319T>ACA406489205PRKD2c.739A>T (p.Thr247Ser)
c.268A>T (p.Thr90Ser)
c.41-3207A>T (n.41-3207A>T)
19g.46704319T>CCA406489202PRKD2c.739A>G (p.Thr247Ala)
c.268A>G (p.Thr90Ala)
c.41-3207A>G (n.41-3207A>G)
dbSNP gnomAD v2 gnomAD v4
19g.46704319T>GCA406489204PRKD2c.739A>C (p.Thr247Pro)
c.268A>C (p.Thr90Pro)
c.41-3207A>C (n.41-3207A>C)
19g.46704319T=CA2339041906PRKD2c.739A= (p.Thr247=)
c.268A= (p.Thr90=)
c.41-3207A= (n.41-3207A=)
19g.46704320A=CA2339041907PRKD2c.738T= (p.Tyr246=)
c.267T= (p.Tyr89=)
c.41-3208T= (n.41-3208T=)
19g.46704320A>CCA406489207PRKD2c.738T>G (p.Tyr246Ter)
c.267T>G (p.Tyr89Ter)
c.41-3208T>G (n.41-3208T>G)
19g.46704320A>GCA9531048PRKD2c.738T>C (p.Tyr246=)
c.267T>C (p.Tyr89=)
c.41-3208T>C (n.41-3208T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.46704320A>TCA406489209PRKD2c.738T>A (p.Tyr246Ter)
c.267T>A (p.Tyr89Ter)
c.41-3208T>A (n.41-3208T>A)
19g.46704321T>ACA406489212PRKD2c.737A>T (p.Tyr246Phe)
c.266A>T (p.Tyr89Phe)
c.41-3209A>T (n.41-3209A>T)
19g.46704321T>CCA406489213PRKD2c.737A>G (p.Tyr246Cys)
c.266A>G (p.Tyr89Cys)
c.41-3209A>G (n.41-3209A>G)
gnomAD v4
19g.46704321T>GCA406489215PRKD2c.737A>C (p.Tyr246Ser)
c.266A>C (p.Tyr89Ser)
c.41-3209A>C (n.41-3209A>C)
19g.46704322A>CCA406489217PRKD2c.736T>G (p.Tyr246Asp)
c.265T>G (p.Tyr89Asp)
c.41-3210T>G (n.41-3210T>G)
19g.46704322A>GCA406489219PRKD2c.736T>C (p.Tyr246His)
c.265T>C (p.Tyr89His)
c.41-3210T>C (n.41-3210T>C)
19g.46704322A>TCA406489220PRKD2c.736T>A (p.Tyr246Asn)
c.265T>A (p.Tyr89Asn)
c.41-3210T>A (n.41-3210T>A)
19g.46704323C>ACA507974885PRKD2c.735G>T (p.Ser245=)
c.264G>T (p.Ser88=)
c.41-3211G>T (n.41-3211G>T)
19g.46704323C=CA2339041908PRKD2c.735G= (p.Ser245=)
c.264G= (p.Ser88=)
c.41-3211G= (n.41-3211G=)
19g.46704323C>GCA507974886PRKD2c.735G>C (p.Ser245=)
c.264G>C (p.Ser88=)
c.41-3211G>C (n.41-3211G>C)
gnomAD v4
19g.46704323C>TCA9531049PRKD2c.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
19g.46704324G>ACA9531050PRKD2c.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
19g.46704324G>CCA406489224PRKD2c.734C>G (p.Ser245Trp)
c.263C>G (p.Ser88Trp)
c.41-3212C>G (n.41-3212C>G)
19g.46704324G=CA2339041909PRKD2c.734C= (p.Ser245=)
c.263C= (p.Ser88=)
c.41-3212C= (n.41-3212C=)
19g.46704324G>TCA406489225PRKD2c.734C>A (p.Ser245Ter)
c.263C>A (p.Ser88Ter)
c.41-3212C>A (n.41-3212C>A)
19g.46704325A>CCA406489231PRKD2c.733T>G (p.Ser245Ala)
c.262T>G (p.Ser88Ala)
c.41-3213T>G (n.41-3213T>G)
gnomAD v4
19g.46704325A>GCA406489229PRKD2c.733T>C (p.Ser245Pro)
c.262T>C (p.Ser88Pro)
c.41-3213T>C (n.41-3213T>C)
19g.46704325A>TCA406489227PRKD2c.733T>A (p.Ser245Thr)
c.262T>A (p.Ser88Thr)
c.41-3213T>A (n.41-3213T>A)
19g.46704326T>ACA507974887PRKD2c.732A>T (p.Ser244=)
c.261A>T (p.Ser87=)
c.41-3214A>T (n.41-3214A>T)
19g.46704326T>CCA507974888PRKD2c.732A>G (p.Ser244=)
c.261A>G (p.Ser87=)
c.41-3214A>G (n.41-3214A>G)
gnomAD v4
19g.46704326T>GCA507974889PRKD2c.732A>C (p.Ser244=)
c.261A>C (p.Ser87=)
c.41-3214A>C (n.41-3214A>C)
19g.46704327G>ACA406489232PRKD2c.731C>T (p.Ser244Leu)
c.260C>T (p.Ser87Leu)
c.41-3215C>T (n.41-3215C>T)
gnomAD v4
19g.46704327G>CCA406489233PRKD2c.731C>G (p.Ser244Ter)
c.260C>G (p.Ser87Ter)
c.41-3215C>G (n.41-3215C>G)
19g.46704327G>TCA406489235PRKD2c.731C>A (p.Ser244Ter)
c.260C>A (p.Ser87Ter)
c.41-3215C>A (n.41-3215C>A)
19g.46704328A>CCA406489237PRKD2c.730T>G (p.Ser244Ala)
c.259T>G (p.Ser87Ala)
c.41-3216T>G (n.41-3216T>G)
19g.46704328A>GCA406489238PRKD2c.730T>C (p.Ser244Pro)
c.259T>C (p.Ser87Pro)
c.41-3216T>C (n.41-3216T>C)
19g.46704328A>TCA406489240PRKD2c.730T>A (p.Ser244Thr)
c.259T>A (p.Ser87Thr)
c.41-3216T>A (n.41-3216T>A)
19g.46704329G>ACA507974890PRKD2c.729C>T (p.Ala243=)
c.258C>T (p.Ala86=)
c.41-3217C>T (n.41-3217C>T)
gnomAD v4
19g.46704329G>CCA507974891PRKD2c.729C>G (p.Ala243=)
c.258C>G (p.Ala86=)
c.41-3217C>G (n.41-3217C>G)
19g.46704329G>TCA507974892PRKD2c.729C>A (p.Ala243=)
c.258C>A (p.Ala86=)
c.41-3217C>A (n.41-3217C>A)
19g.46704330G>ACA406489242PRKD2c.728C>T (p.Ala243Val)
c.257C>T (p.Ala86Val)
c.41-3218C>T (n.41-3218C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.46704330G>CCA406489244PRKD2c.728C>G (p.Ala243Gly)
c.257C>G (p.Ala86Gly)
c.41-3218C>G (n.41-3218C>G)
19g.46704330G=CA2339041910PRKD2c.728C= (p.Ala243=)
c.257C= (p.Ala86=)
c.41-3218C= (n.41-3218C=)
19g.46704330G>TCA406489246PRKD2c.728C>A (p.Ala243Asp)
c.257C>A (p.Ala86Asp)
c.41-3218C>A (n.41-3218C>A)
19g.46704331C>ACA406489247PRKD2c.727G>T (p.Ala243Ser)
c.256G>T (p.Ala86Ser)
c.41-3219G>T (n.41-3219G>T)
19g.46704331C>GCA406489249PRKD2c.727G>C (p.Ala243Pro)
c.256G>C (p.Ala86Pro)
c.41-3219G>C (n.41-3219G>C)
19g.46704331C>TCA406489251PRKD2c.727G>A (p.Ala243Thr)
c.256G>A (p.Ala86Thr)
c.41-3219G>A (n.41-3219G>A)
19g.46704331_46704340delinsCAGAAGAGGACA2339041911PRKD2c.718_727delinsTCCTCTTCTG (p.Ser240=)
c.247_256delinsTCCTCTTCTG (p.Ser83=)
c.41-3228_41-3219delinsTCCTCTTCTG (n.41-3228_41-3219delinsTCCTCTTCTG)
19g.46704332A=CA2339041913PRKD2c.726T= (p.Ser242=)
c.255T= (p.Ser85=)
c.41-3220T= (n.41-3220T=)
19g.46704332A>CCA507974893PRKD2c.726T>G (p.Ser242=)
c.255T>G (p.Ser85=)
c.41-3220T>G (n.41-3220T>G)
19g.46704332A>GCA9531052PRKD2c.726T>C (p.Ser242=)
c.255T>C (p.Ser85=)
c.41-3220T>C (n.41-3220T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.46704332A>TCA9531051PRKD2c.726T>A (p.Ser242=)
c.255T>A (p.Ser85=)
c.41-3220T>A (n.41-3220T>A)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.46704332_46704340delCA2339041912PRKD2c.718_726del (p.Ser240_Ser242del)
c.247_255del (p.Ser83_Ser85del)
c.41-3228_41-3220del (n.41-3228_41-3220del)
dbSNP
19g.46704333G>ACA406489257PRKD2c.725C>T (p.Ser242Phe)
c.254C>T (p.Ser85Phe)
c.41-3221C>T (n.41-3221C>T)
gnomAD v4
19g.46704333G>CCA406489256PRKD2c.725C>G (p.Ser242Cys)
c.254C>G (p.Ser85Cys)
c.41-3221C>G (n.41-3221C>G)
19g.46704333G>TCA406489254PRKD2c.725C>A (p.Ser242Tyr)
c.254C>A (p.Ser85Tyr)
c.41-3221C>A (n.41-3221C>A)
19g.46704334A>CCA406489258PRKD2c.724T>G (p.Ser242Ala)
c.253T>G (p.Ser85Ala)
c.41-3222T>G (n.41-3222T>G)
19g.46704334A>GCA406489260PRKD2c.724T>C (p.Ser242Pro)
c.253T>C (p.Ser85Pro)
c.41-3222T>C (n.41-3222T>C)
19g.46704334A>TCA406489261PRKD2c.724T>A (p.Ser242Thr)
c.253T>A (p.Ser85Thr)
c.41-3222T>A (n.41-3222T>A)
19g.46704335A>CCA507974894PRKD2c.723T>G (p.Ser241=)
c.252T>G (p.Ser84=)
c.41-3223T>G (n.41-3223T>G)
19g.46704335A>GCA507974895PRKD2c.723T>C (p.Ser241=)
c.252T>C (p.Ser84=)
c.41-3223T>C (n.41-3223T>C)
19g.46704335A>TCA507974896PRKD2c.723T>A (p.Ser241=)
c.252T>A (p.Ser84=)
c.41-3223T>A (n.41-3223T>A)
19g.46704335_46704338delinsAGAGCA2339041914PRKD2c.720_723delinsCTCT (p.Ser240=)
c.249_252delinsCTCT (p.Ser83=)
c.41-3226_41-3223delinsCTCT (n.41-3226_41-3223delinsCTCT)
19g.46704336G>ACA406489262PRKD2c.722C>T (p.Ser241Phe)
c.251C>T (p.Ser84Phe)
c.41-3224C>T (n.41-3224C>T)
dbSNP gnomAD v2 gnomAD v4
19g.46704336G>CCA406489263PRKD2c.722C>G (p.Ser241Cys)
c.251C>G (p.Ser84Cys)
c.41-3224C>G (n.41-3224C>G)
19g.46704336G=CA2339041915PRKD2c.722C= (p.Ser241=)
c.251C= (p.Ser84=)
c.41-3224C= (n.41-3224C=)
19g.46704336G>TCA406489264PRKD2c.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
19g.46704341_46704343delCA309105335PRKD2c.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
19g.46704337A>CCA406489266PRKD2c.721T>G (p.Ser241Ala)
c.456T>G (n.456T>G)
c.250T>G (p.Ser84Ala)
c.41-3225T>G (n.41-3225T>G)
19g.46704337A>GCA406489267PRKD2c.721T>C (p.Ser241Pro)
c.456T>C (n.456T>C)
c.250T>C (p.Ser84Pro)
c.41-3225T>C (n.41-3225T>C)
19g.46704337A>TCA406489269PRKD2c.721T>A (p.Ser241Thr)
c.456T>A (n.456T>A)
c.250T>A (p.Ser84Thr)
c.41-3225T>A (n.41-3225T>A)
19g.46704338G>ACA507974898PRKD2c.720C>T (p.Ser240=)
c.455C>T (n.455C>T)
c.249C>T (p.Ser83=)
c.41-3226C>T (n.41-3226C>T)
COSMIC
19g.46704338G>CCA507974900PRKD2c.720C>G (p.Ser240=)
c.455C>G (n.455C>G)
c.249C>G (p.Ser83=)
c.41-3226C>G (n.41-3226C>G)
19g.46704338G=CA2339041916PRKD2c.720C= (p.Ser240=)
c.455C= (n.455C=)
c.249C= (p.Ser83=)
c.41-3226C= (n.41-3226C=)
19g.46704338G>TCA507974902PRKD2c.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
19g.46704339G>ACA406489270PRKD2c.719C>T (p.Ser240Phe)
c.454C>T (n.454C>T)
c.248C>T (p.Ser83Phe)
c.41-3227C>T (n.41-3227C>T)
19g.46704339G>CCA406489272PRKD2c.719C>G (p.Ser240Cys)
c.454C>G (n.454C>G)
c.248C>G (p.Ser83Cys)
c.41-3227C>G (n.41-3227C>G)
19g.46704339G>TCA406489273PRKD2c.719C>A (p.Ser240Tyr)
c.454C>A (n.454C>A)
c.248C>A (p.Ser83Tyr)
c.41-3227C>A (n.41-3227C>A)
19g.46704340A>CCA406489279PRKD2c.718T>G (p.Ser240Ala)
c.453T>G (n.453T>G)
c.247T>G (p.Ser83Ala)
c.41-3228T>G (n.41-3228T>G)
19g.46704340A>GCA406489277PRKD2c.718T>C (p.Ser240Pro)
c.453T>C (n.453T>C)
c.247T>C (p.Ser83Pro)
c.41-3228T>C (n.41-3228T>C)
19g.46704340A>TCA406489275PRKD2c.718T>A (p.Ser240Thr)
c.453T>A (n.453T>A)
c.247T>A (p.Ser83Thr)
c.41-3228T>A (n.41-3228T>A)
19g.46704341G>ACA507974903PRKD2c.717C>T (p.Ser239=)
c.452C>T (n.452C>T)
c.246C>T (p.Ser82=)
c.41-3229C>T (n.41-3229C>T)
19g.46704341G>CCA507974905PRKD2c.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
19g.46704341G=CA2339041917PRKD2c.717C= (p.Ser239=)
c.452C= (n.452C=)
c.246C= (p.Ser82=)
c.41-3229C= (n.41-3229C=)
19g.46704341G>TCA507974907PRKD2c.717C>A (p.Ser239=)
c.452C>A (n.452C>A)
c.246C>A (p.Ser82=)
c.41-3229C>A (n.41-3229C>A)
19g.46704342G>ACA406489280PRKD2c.716C>T (p.Ser239Phe)
c.451C>T (n.451C>T)
c.245C>T (p.Ser82Phe)
c.41-3230C>T (n.41-3230C>T)
COSMIC
19g.46704342G>CCA406489282PRKD2c.716C>G (p.Ser239Cys)
c.451C>G (n.451C>G)
c.245C>G (p.Ser82Cys)
c.41-3230C>G (n.41-3230C>G)
19g.46704342G>TCA406489284PRKD2c.716C>A (p.Ser239Tyr)
c.451C>A (n.451C>A)
c.245C>A (p.Ser82Tyr)
c.41-3230C>A (n.41-3230C>A)
19g.46704343A>CCA406489286PRKD2c.715T>G (p.Ser239Ala)
c.450T>G (n.450T>G)
c.244T>G (p.Ser82Ala)
c.41-3231T>G (n.41-3231T>G)
19g.46704343A>GCA406489287PRKD2c.715T>C (p.Ser239Pro)
c.450T>C (n.450T>C)
c.244T>C (p.Ser82Pro)
c.41-3231T>C (n.41-3231T>C)
19g.46704343A>TCA406489288PRKD2c.715T>A (p.Ser239Thr)
c.450T>A (n.450T>A)
c.244T>A (p.Ser82Thr)
c.41-3231T>A (n.41-3231T>A)
19g.46704344A>CCA507974909PRKD2c.714T>G (p.Ser238=)
c.449T>G (n.449T>G)
c.243T>G (p.Ser81=)
c.41-3232T>G (n.41-3232T>G)
19g.46704344A>GCA507974910PRKD2c.714T>C (p.Ser238=)
c.449T>C (n.449T>C)
c.243T>C (p.Ser81=)
c.41-3232T>C (n.41-3232T>C)
19g.46704344A>TCA507974911PRKD2c.714T>A (p.Ser238=)
c.449T>A (n.449T>A)
c.243T>A (p.Ser81=)
c.41-3232T>A (n.41-3232T>A)
19g.46704345G>ACA406489291PRKD2c.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
19g.46704345G>CCA406489292PRKD2c.713C>G (p.Ser238Cys)
c.448C>G (n.448C>G)
c.242C>G (p.Ser81Cys)
c.41-3233C>G (n.41-3233C>G)
19g.46704345G>TCA406489294PRKD2c.713C>A (p.Ser238Tyr)
c.448C>A (n.448C>A)
c.242C>A (p.Ser81Tyr)
c.41-3233C>A (n.41-3233C>A)
19g.46704346A>CCA406489295PRKD2c.712T>G (p.Ser238Ala)
c.447T>G (n.447T>G)
c.241T>G (p.Ser81Ala)
c.41-3234T>G (n.41-3234T>G)
19g.46704346A>GCA406489296PRKD2c.712T>C (p.Ser238Pro)
c.447T>C (n.447T>C)
c.241T>C (p.Ser81Pro)
c.41-3234T>C (n.41-3234T>C)
19g.46704346A>TCA406489297PRKD2c.712T>A (p.Ser238Thr)
c.447T>A (n.447T>A)
c.241T>A (p.Ser81Thr)
c.41-3234T>A (n.41-3234T>A)
19g.46704347G>ACA9531053PRKD2c.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
19g.46704347G>CCA507974914PRKD2c.711C>G (p.Ser237=)
c.446C>G (n.446C>G)
c.240C>G (p.Ser80=)
c.41-3235C>G (n.41-3235C>G)
19g.46704347G=CA2339041918PRKD2c.711C= (p.Ser237=)
c.446C= (n.446C=)
c.240C= (p.Ser80=)
c.41-3235C= (n.41-3235C=)
19g.46704347G>TCA507974915PRKD2c.711C>A (p.Ser237=)
c.446C>A (n.446C>A)
c.240C>A (p.Ser80=)
c.41-3235C>A (n.41-3235C>A)
19g.46704348G>ACA406489301PRKD2c.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
19g.46704348G>CCA406489302PRKD2c.710C>G (p.Ser237Cys)
c.445C>G (n.445C>G)
c.239C>G (p.Ser80Cys)
c.41-3236C>G (n.41-3236C>G)
19g.46704348G=CA2339041919PRKD2c.710C= (p.Ser237=)
c.445C= (n.445C=)
c.239C= (p.Ser80=)
c.41-3236C= (n.41-3236C=)
19g.46704348G>TCA406489299PRKD2c.710C>A (p.Ser237Tyr)
c.445C>A (n.445C>A)
c.239C>A (p.Ser80Tyr)
c.41-3236C>A (n.41-3236C>A)
19g.46704349A=CA2339041920PRKD2c.709T= (p.Ser237=)
c.444T= (n.444T=)
c.238T= (p.Ser80=)
c.41-3237T= (n.41-3237T=)
19g.46704349A>CCA406489303PRKD2c.709T>G (p.Ser237Ala)
c.444T>G (n.444T>G)
c.238T>G (p.Ser80Ala)
c.41-3237T>G (n.41-3237T>G)
dbSNP
19g.46704349A>GCA406489307PRKD2c.709T>C (p.Ser237Pro)
c.444T>C (n.444T>C)
c.238T>C (p.Ser80Pro)
c.41-3237T>C (n.41-3237T>C)
19g.46704349A>TCA406489305PRKD2c.709T>A (p.Ser237Thr)
c.444T>A (n.444T>A)
c.238T>A (p.Ser80Thr)
c.41-3237T>A (n.41-3237T>A)
19g.46704350T>ACA507974917PRKD2c.708A>T (p.Ser236=)
c.443A>T (n.443A>T)
c.237A>T (p.Ser79=)
c.41-3238A>T (n.41-3238A>T)
19g.46704350T>CCA507974918PRKD2c.708A>G (p.Ser236=)
c.443A>G (n.443A>G)
c.237A>G (p.Ser79=)
c.41-3238A>G (n.41-3238A>G)
19g.46704350T>GCA507974919PRKD2c.708A>C (p.Ser236=)
c.443A>C (n.443A>C)
c.237A>C (p.Ser79=)
c.41-3238A>C (n.41-3238A>C)
19g.46704351G>ACA406489308PRKD2c.707C>T (p.Ser236Leu)
c.442C>T (n.442C>T)
c.236C>T (p.Ser79Leu)
c.41-3239C>T (n.41-3239C>T)
19g.46704351G>CCA406489310PRKD2c.707C>G (p.Ser236Ter)
c.442C>G (n.442C>G)
c.236C>G (p.Ser79Ter)
c.41-3239C>G (n.41-3239C>G)
19g.46704351G>TCA406489311PRKD2c.707C>A (p.Ser236Ter)
c.442C>A (n.442C>A)
c.236C>A (p.Ser79Ter)
c.41-3239C>A (n.41-3239C>A)
19g.46704352A>CCA406489313PRKD2c.706T>G (p.Ser236Ala)
c.441T>G (n.441T>G)
c.235T>G (p.Ser79Ala)
c.41-3240T>G (n.41-3240T>G)
19g.46704352A>GCA406489315PRKD2c.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
19g.46704352A>TCA406489316PRKD2c.706T>A (p.Ser236Thr)
c.441T>A (n.441T>A)
c.235T>A (p.Ser79Thr)
c.41-3240T>A (n.41-3240T>A)
19g.46704353C>ACA507974923PRKD2c.705G>T (p.Pro235=)
c.440G>T (n.440G>T)
c.234G>T (p.Pro78=)
c.41-3241G>T (n.41-3241G>T)
19g.46704353C=CA2339041921PRKD2c.705G= (p.Pro235=)
c.440G= (n.440G=)
c.234G= (p.Pro78=)
c.41-3241G= (n.41-3241G=)
19g.46704353C>GCA507974924PRKD2c.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
19g.46704353C>TCA9531054PRKD2c.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
19g.46704354G>ACA9531055PRKD2c.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
19g.46704354G>CCA406489319PRKD2c.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
19g.46704354G=CA2339041922PRKD2c.704C= (p.Pro235=)
c.439C= (n.439C=)
c.233C= (p.Pro78=)
c.41-3242C= (n.41-3242C=)
19g.46704354G>TCA406489321PRKD2c.704C>A (p.Pro235Gln)
c.439C>A (n.439C>A)
c.233C>A (p.Pro78Gln)
c.41-3242C>A (n.41-3242C>A)
19g.46704358delCA507974927PRKD2c.704del (p.Pro235ArgfsTer?)
c.439del (n.439del)
c.233del (p.Pro78ArgfsTer?)
c.41-3242del (n.41-3242del)
COSMIC
19g.46704355G>ACA406489322PRKD2c.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
19g.46704355G>CCA406489323PRKD2c.703C>G (p.Pro235Ala)
c.438C>G (n.438C>G)
c.232C>G (p.Pro78Ala)
c.41-3243C>G (n.41-3243C>G)
19g.46704355G=CA2339041923PRKD2c.703C= (p.Pro235=)
c.438C= (n.438C=)
c.232C= (p.Pro78=)
c.41-3243C= (n.41-3243C=)
19g.46704355G>TCA406489325PRKD2c.703C>A (p.Pro235Thr)
c.438C>A (n.438C>A)
c.232C>A (p.Pro78Thr)
c.41-3243C>A (n.41-3243C>A)
19g.46704356G>ACA507974929PRKD2c.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
19g.46704356G>CCA507974930PRKD2c.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
19g.46704356G=CA2339041924PRKD2c.702C= (p.Pro234=)
c.437C= (n.437C=)
c.231C= (p.Pro77=)
c.41-3244C= (n.41-3244C=)
19g.46704356G>TCA507974931PRKD2c.702C>A (p.Pro234=)
c.437C>A (n.437C>A)
c.231C>A (p.Pro77=)
c.41-3244C>A (n.41-3244C>A)
19g.46704357G>ACA406489327PRKD2c.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
19g.46704357G>CCA406489330PRKD2c.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
19g.46704357G>TCA406489329PRKD2c.701C>A (p.Pro234His)
c.436C>A (n.436C>A)
c.230C>A (p.Pro77His)
c.41-3245C>A (n.41-3245C>A)
19g.46704357_46704363delinsGGACGGCCA2339041925PRKD2c.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)
19g.46704358G>ACA309105348PRKD2c.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
19g.46704358G>CCA406489331PRKD2c.700C>G (p.Pro234Ala)
c.435C>G (n.435C>G)
c.229C>G (p.Pro77Ala)
c.41-3246C>G (n.41-3246C>G)
19g.46704358G=CA2339041927PRKD2c.700C= (p.Pro234=)
c.435C= (n.435C=)
c.229C= (p.Pro77=)
c.41-3246C= (n.41-3246C=)
19g.46704358G>TCA406489332PRKD2c.700C>A (p.Pro234Thr)
c.435C>A (n.435C>A)
c.229C>A (p.Pro77Thr)
c.41-3246C>A (n.41-3246C>A)
19g.46704360_46704365delCA2339041926PRKD2c.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
19g.46704359A=CA2339041928PRKD2c.699T= (p.Arg233=)
c.434T= (n.434T=)
c.228T= (p.Arg76=)
c.41-3247T= (n.41-3247T=)
19g.46704359A>CCA507974932PRKD2c.699T>G (p.Arg233=)
c.434T>G (n.434T>G)
c.228T>G (p.Arg76=)
c.41-3247T>G (n.41-3247T>G)
19g.46704359A>GCA9531056PRKD2c.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
19g.46704359A>TCA507974933PRKD2c.699T>A (p.Arg233=)
c.434T>A (n.434T>A)
c.228T>A (p.Arg76=)
c.41-3247T>A (n.41-3247T>A)
19g.46704360C>ACA9531058PRKD2c.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
19g.46704360C=CA2339041929PRKD2c.698G= (p.Arg233=)
c.433G= (n.433G=)
c.227G= (p.Arg76=)
c.41-3248G= (n.41-3248G=)
19g.46704360C>GCA406489335PRKD2c.698G>C (p.Arg233Pro)
c.433G>C (n.433G>C)
c.227G>C (p.Arg76Pro)
c.41-3248G>C (n.41-3248G>C)
19g.46704360C>TCA9531057PRKD2c.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
19g.46704361G>ACA9531059PRKD2c.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
19g.46704361G>CCA406489337PRKD2c.697C>G (p.Arg233Gly)
c.432C>G (n.432C>G)
c.226C>G (p.Arg76Gly)
c.41-3249C>G (n.41-3249C>G)
19g.46704361G=CA2339041930PRKD2c.697C= (p.Arg233=)
c.432C= (n.432C=)
c.226C= (p.Arg76=)
c.41-3249C= (n.41-3249C=)
19g.46704361G>TCA406489338PRKD2c.697C>A (p.Arg233Ser)
c.432C>A (n.432C>A)
c.226C>A (p.Arg76Ser)
c.41-3249C>A (n.41-3249C>A)
19g.46704362G>ACA507974935PRKD2c.696C>T (p.Arg232=)
c.431C>T (n.431C>T)
c.225C>T (p.Arg75=)
c.41-3250C>T (n.41-3250C>T)
COSMIC
19g.46704362G>CCA507974936PRKD2c.696C>G (p.Arg232=)
c.431C>G (n.431C>G)
c.225C>G (p.Arg75=)
c.41-3250C>G (n.41-3250C>G)
19g.46704362G>TCA507974937PRKD2c.696C>A (p.Arg232=)
c.431C>A (n.431C>A)
c.225C>A (p.Arg75=)
c.41-3250C>A (n.41-3250C>A)
19g.46704363C>ACA406489341PRKD2c.695G>T (p.Arg232Leu)
c.430G>T (n.430G>T)
c.224G>T (p.Arg75Leu)
c.41-3251G>T (n.41-3251G>T)
19g.46704363C>GCA406489340PRKD2c.695G>C (p.Arg232Pro)
c.430G>C (n.430G>C)
c.224G>C (p.Arg75Pro)
c.41-3251G>C (n.41-3251G>C)
19g.46704363C>TCA406489339PRKD2c.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
19g.46704364G>ACA406489346PRKD2c.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
19g.46704364G>CCA406489343PRKD2c.694C>G (p.Arg232Gly)
c.429C>G (n.429C>G)
c.223C>G (p.Arg75Gly)
c.41-3252C>G (n.41-3252C>G)
19g.46704364G=CA2339041931PRKD2c.694C= (p.Arg232=)
c.429C= (n.429C=)
c.223C= (p.Arg75=)
c.41-3252C= (n.41-3252C=)
19g.46704364G>TCA406489344PRKD2c.694C>A (p.Arg232Ser)
c.429C>A (n.429C>A)
c.223C>A (p.Arg75Ser)
c.41-3252C>A (n.41-3252C>A)
19g.46704365A>CCA507974941PRKD2c.693T>G (p.Pro231=)
c.428T>G (n.428T>G)
c.222T>G (p.Pro74=)
c.41-3253T>G (n.41-3253T>G)
19g.46704365A>GCA507974942PRKD2c.693T>C (p.Pro231=)
c.428T>C (n.428T>C)
c.222T>C (p.Pro74=)
c.41-3253T>C (n.41-3253T>C)
19g.46704365A>TCA507974943PRKD2c.693T>A (p.Pro231=)
c.428T>A (n.428T>A)
c.222T>A (p.Pro74=)
c.41-3253T>A (n.41-3253T>A)
19g.46704366G>ACA406489348PRKD2c.692C>T (p.Pro231Leu)
c.427C>T (n.427C>T)
c.221C>T (p.Pro74Leu)
c.41-3254C>T (n.41-3254C>T)
19g.46704366G>CCA406489349PRKD2c.692C>G (p.Pro231Arg)
c.427C>G (n.427C>G)
c.221C>G (p.Pro74Arg)
c.41-3254C>G (n.41-3254C>G)
19g.46704366G=CA2339041932PRKD2c.692C= (p.Pro231=)
c.427C= (n.427C=)
c.221C= (p.Pro74=)
c.41-3254C= (n.41-3254C=)
19g.46704366G>TCA406489350PRKD2c.692C>A (p.Pro231His)
c.427C>A (n.427C>A)
c.221C>A (p.Pro74His)
c.41-3254C>A (n.41-3254C>A)
dbSNP
19g.46704367G>ACA406489355PRKD2c.691C>T (p.Pro231Ser)
c.426C>T (n.426C>T)
c.220C>T (p.Pro74Ser)
c.41-3255C>T (n.41-3255C>T)
19g.46704367G>CCA406489354PRKD2c.691C>G (p.Pro231Ala)
c.426C>G (n.426C>G)
c.220C>G (p.Pro74Ala)
c.41-3255C>G (n.41-3255C>G)
19g.46704367G>TCA406489352PRKD2c.691C>A (p.Pro231Thr)
c.426C>A (n.426C>A)
c.220C>A (p.Pro74Thr)
c.41-3255C>A (n.41-3255C>A)
19g.46704368C>ACA9531060PRKD2c.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
19g.46704368C=CA2339041933PRKD2c.690G= (p.Leu230=)
c.425G= (n.425G=)
c.219G= (p.Leu73=)
c.41-3256G= (n.41-3256G=)
19g.46704368C>GCA507974946PRKD2c.690G>C (p.Leu230=)
c.425G>C (n.425G>C)
c.219G>C (p.Leu73=)
c.41-3256G>C (n.41-3256G>C)
19g.46704368C>TCA507974947PRKD2c.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
19g.46704369A>CCA406489357PRKD2c.689T>G (p.Leu230Arg)
c.424T>G (n.424T>G)
c.218T>G (p.Leu73Arg)
c.41-3257T>G (n.41-3257T>G)
19g.46704369A>GCA406489358PRKD2c.689T>C (p.Leu230Pro)
c.424T>C (n.424T>C)
c.218T>C (p.Leu73Pro)
c.41-3257T>C (n.41-3257T>C)
19g.46704369A>TCA406489359PRKD2c.689T>A (p.Leu230Gln)
c.424T>A (n.424T>A)
c.218T>A (p.Leu73Gln)
c.41-3257T>A (n.41-3257T>A)
19g.46704370G>ACA507974950PRKD2c.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
19g.46704370G>CCA406489361PRKD2c.688C>G (p.Leu230Val)
c.423C>G (n.423C>G)
c.217C>G (p.Leu73Val)
c.41-3258C>G (n.41-3258C>G)
19g.46704370G=CA2339041934PRKD2c.688C= (p.Leu230=)
c.423C= (n.423C=)
c.217C= (p.Leu73=)
c.41-3258C= (n.41-3258C=)
19g.46704370G>TCA406489362PRKD2c.688C>A (p.Leu230Met)
c.423C>A (n.423C>A)
c.217C>A (p.Leu73Met)
c.41-3258C>A (n.41-3258C>A)
19g.46704371G>ACA507974952PRKD2c.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
19g.46704371G>CCA507974953PRKD2c.687C>G (p.Leu229=)
c.422C>G (n.422C>G)
c.216C>G (p.Leu72=)
c.41-3259C>G (n.41-3259C>G)
19g.46704371G=CA2339041935PRKD2c.687C= (p.Leu229=)
c.422C= (n.422C=)
c.216C= (p.Leu72=)
c.41-3259C= (n.41-3259C=)
19g.46704371G>TCA507974954PRKD2c.687C>A (p.Leu229=)
c.422C>A (n.422C>A)
c.216C>A (p.Leu72=)
c.41-3259C>A (n.41-3259C>A)
19g.46704372A=CA2339041936PRKD2c.686T= (p.Leu229=)
c.421T= (n.421T=)
c.215T= (p.Leu72=)
c.41-3260T= (n.41-3260T=)
19g.46704372A>CCA406489364PRKD2c.686T>G (p.Leu229Arg)
c.421T>G (n.421T>G)
c.215T>G (p.Leu72Arg)
c.41-3260T>G (n.41-3260T>G)
19g.46704372A>GCA406489367PRKD2c.686T>C (p.Leu229Pro)
c.421T>C (n.421T>C)
c.215T>C (p.Leu72Pro)
c.41-3260T>C (n.41-3260T>C)
dbSNP
19g.46704372A>TCA406489365PRKD2c.686T>A (p.Leu229His)
c.421T>A (n.421T>A)
c.215T>A (p.Leu72His)
c.41-3260T>A (n.41-3260T>A)
19g.46704373G>ACA9531062PRKD2c.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
19g.46704373G>CCA9531061PRKD2c.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
19g.46704373G=CA2339041937PRKD2c.685C= (p.Leu229=)
c.420C= (n.420C=)
c.214C= (p.Leu72=)
c.41-3261C= (n.41-3261C=)
19g.46704373G>TCA406489370PRKD2c.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
19g.46704374T>ACA406489371PRKD2c.684A>T (p.Glu228Asp)
c.419A>T (n.419A>T)
c.213A>T (p.Glu71Asp)
c.41-3262A>T (n.41-3262A>T)
19g.46704374T>CCA507974957PRKD2c.684A>G (p.Glu228=)
c.419A>G (n.419A>G)
c.213A>G (p.Glu71=)
c.41-3262A>G (n.41-3262A>G)
19g.46704374T>GCA406489373PRKD2c.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
19g.46704375_46704376insTTTCA2585971176PRKD2c.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
19g.46704375T>ACA406489375PRKD2c.683A>T (p.Glu228Val)
c.418A>T (n.418A>T)
c.212A>T (p.Glu71Val)
c.41-3263A>T (n.41-3263A>T)
19g.46704375T>CCA406489376PRKD2c.683A>G (p.Glu228Gly)
c.418A>G (n.418A>G)
c.212A>G (p.Glu71Gly)
c.41-3263A>G (n.41-3263A>G)
19g.46704375T>GCA406489377PRKD2c.683A>C (p.Glu228Ala)
c.418A>C (n.418A>C)
c.212A>C (p.Glu71Ala)
c.41-3263A>C (n.41-3263A>C)
19g.46704376C>ACA406489379PRKD2c.682G>T (p.Glu228Ter)
c.417G>T (n.417G>T)
c.211G>T (p.Glu71Ter)
c.41-3264G>T (n.41-3264G>T)
19g.46704376C=CA2339041938PRKD2c.682G= (p.Glu228=)
c.417G= (n.417G=)
c.211G= (p.Glu71=)
c.41-3264G= (n.41-3264G=)
19g.46704376C>GCA406489381PRKD2c.682G>C (p.Glu228Gln)
c.417G>C (n.417G>C)
c.211G>C (p.Glu71Gln)
c.41-3264G>C (n.41-3264G>C)
19g.46704376C>TCA9531063PRKD2c.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
19g.46704377G>ACA9531064PRKD2c.681C>T (p.Thr227=)
c.416C>T (n.416C>T)
c.210C>T (p.Thr70=)
c.41-3265C>T (n.41-3265C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.46704377G>CCA507974959PRKD2c.681C>G (p.Thr227=)
c.416C>G (n.416C>G)
c.210C>G (p.Thr70=)
c.41-3265C>G (n.41-3265C>G)
gnomAD v4
19g.46704377G=CA2339041939PRKD2c.681C= (p.Thr227=)
c.416C= (n.416C=)
c.210C= (p.Thr70=)
c.41-3265C= (n.41-3265C=)
19g.46704377G>TCA507974958PRKD2c.681C>A (p.Thr227=)
c.416C>A (n.416C>A)
c.210C>A (p.Thr70=)
c.41-3265C>A (n.41-3265C>A)
19g.46704378G>ACA406489384PRKD2c.680C>T (p.Thr227Ile)
c.415C>T (n.415C>T)
c.209C>T (p.Thr70Ile)
c.41-3266C>T (n.41-3266C>T)
19g.46704378G>CCA406489386PRKD2c.680C>G (p.Thr227Ser)
c.415C>G (n.415C>G)
c.209C>G (p.Thr70Ser)
c.41-3266C>G (n.41-3266C>G)
19g.46704378G=CA2339041940PRKD2c.680C= (p.Thr227=)
c.415C= (n.415C=)
c.209C= (p.Thr70=)
c.41-3266C= (n.41-3266C=)
19g.46704378G>TCA9531065PRKD2c.680C>A (p.Thr227Asn)
c.415C>A (n.415C>A)
c.209C>A (p.Thr70Asn)
c.41-3266C>A (n.41-3266C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.46704379T>ACA406489388PRKD2c.679A>T (p.Thr227Ser)
c.414A>T (n.414A>T)
c.208A>T (p.Thr70Ser)
c.41-3267A>T (n.41-3267A>T)
gnomAD v4
19g.46704379T>CCA406489389PRKD2c.679A>G (p.Thr227Ala)
c.414A>G (n.414A>G)
c.208A>G (p.Thr70Ala)
c.41-3267A>G (n.41-3267A>G)
19g.46704379T>GCA406489390PRKD2c.679A>C (p.Thr227Pro)
c.414A>C (n.414A>C)
c.208A>C (p.Thr70Pro)
c.41-3267A>C (n.41-3267A>C)
dbSNP
19g.46704379T=CA2339041941PRKD2c.679A= (p.Thr227=)
c.414A= (n.414A=)
c.208A= (p.Thr70=)
c.41-3267A= (n.41-3267A=)
19g.46704380G>ACA507974963PRKD2c.678C>T (p.Thr226=)
c.413C>T (n.413C>T)
c.207C>T (p.Thr69=)
c.41-3268C>T (n.41-3268C>T)
dbSNP gnomAD v2 gnomAD v4
19g.46704380G>CCA507974964PRKD2c.678C>G (p.Thr226=)
c.413C>G (n.413C>G)
c.207C>G (p.Thr69=)
c.41-3268C>G (n.41-3268C>G)
19g.46704380G=CA2339041942PRKD2c.678C= (p.Thr226=)
c.413C= (n.413C=)
c.207C= (p.Thr69=)
c.41-3268C= (n.41-3268C=)
19g.46704380G>TCA507974965PRKD2c.678C>A (p.Thr226=)
c.413C>A (n.413C>A)
c.207C>A (p.Thr69=)
c.41-3268C>A (n.41-3268C>A)
19g.46704381G>ACA406489391PRKD2c.677C>T (p.Thr226Ile)
c.412C>T (n.412C>T)
c.206C>T (p.Thr69Ile)
c.41-3269C>T (n.41-3269C>T)
19g.46704381G>CCA406489393PRKD2c.677C>G (p.Thr226Ser)
c.412C>G (n.412C>G)
c.206C>G (p.Thr69Ser)
c.41-3269C>G (n.41-3269C>G)
19g.46704381G>TCA406489394PRKD2c.677C>A (p.Thr226Asn)
c.412C>A (n.412C>A)
c.206C>A (p.Thr69Asn)
c.41-3269C>A (n.41-3269C>A)

Number of alleles fetched