Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.46704167A>CCA406488781PRKD2c.889+2T>G (n.889+2T>G)
c.418+2T>G (n.418+2T>G)
c.41-3055T>G (n.41-3055T>G)
19g.46704167A>GCA406488782PRKD2c.889+2T>C (n.889+2T>C)
c.418+2T>C (n.418+2T>C)
c.41-3055T>C (n.41-3055T>C)
19g.46704167A>TCA406488783PRKD2c.889+2T>A (n.889+2T>A)
c.418+2T>A (n.418+2T>A)
c.41-3055T>A (n.41-3055T>A)
19g.46704168C>ACA406488784PRKD2c.889+1G>T (n.889+1G>T)
c.418+1G>T (n.418+1G>T)
c.41-3056G>T (n.41-3056G>T)
19g.46704168C=CA2339041861PRKD2c.889+1G= (n.889+1G=)
c.418+1G= (n.418+1G=)
c.41-3056G= (n.41-3056G=)
19g.46704168C>GCA406488785PRKD2c.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
19g.46704168C>TCA406488786PRKD2c.889+1G>A (n.889+1G>A)
c.418+1G>A (n.418+1G>A)
c.41-3056G>A (n.41-3056G>A)
19g.46704169C>ACA406488787PRKD2c.889G>T (p.Asp297Tyr)
c.418G>T (p.Asp140Tyr)
c.41-3057G>T (n.41-3057G>T)
19g.46704169C>GCA406488789PRKD2c.889G>C (p.Asp297His)
c.418G>C (p.Asp140His)
c.41-3057G>C (n.41-3057G>C)
19g.46704169C>TCA406488788PRKD2c.889G>A (p.Asp297Asn)
c.418G>A (p.Asp140Asn)
c.41-3057G>A (n.41-3057G>A)
19g.46704170T>ACA406488790PRKD2c.888A>T (p.Lys296Asn)
c.417A>T (p.Lys139Asn)
c.41-3058A>T (n.41-3058A>T)
19g.46704170T>CCA507974714PRKD2c.888A>G (p.Lys296=)
c.417A>G (p.Lys139=)
c.41-3058A>G (n.41-3058A>G)
19g.46704170T>GCA406488791PRKD2c.888A>C (p.Lys296Asn)
c.417A>C (p.Lys139Asn)
c.41-3058A>C (n.41-3058A>C)
19g.46704171T>ACA406488792PRKD2c.887A>T (p.Lys296Ile)
c.416A>T (p.Lys139Ile)
c.41-3059A>T (n.41-3059A>T)
19g.46704171T>CCA9531031PRKD2c.887A>G (p.Lys296Arg)
c.416A>G (p.Lys139Arg)
c.41-3059A>G (n.41-3059A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.46704171T>GCA406488793PRKD2c.887A>C (p.Lys296Thr)
c.416A>C (p.Lys139Thr)
c.41-3059A>C (n.41-3059A>C)
19g.46704171T=CA2339041862PRKD2c.887A= (p.Lys296=)
c.416A= (p.Lys139=)
c.41-3059A= (n.41-3059A=)
19g.46704172T>ACA406488794PRKD2c.886A>T (p.Lys296Ter)
c.415A>T (p.Lys139Ter)
c.41-3060A>T (n.41-3060A>T)
19g.46704172T>CCA406488795PRKD2c.886A>G (p.Lys296Glu)
c.415A>G (p.Lys139Glu)
c.41-3060A>G (n.41-3060A>G)
19g.46704172T>GCA406488796PRKD2c.886A>C (p.Lys296Gln)
c.415A>C (p.Lys139Gln)
c.41-3060A>C (n.41-3060A>C)
19g.46704173G>ACA507974715PRKD2c.885C>T (p.Cys295=)
c.414C>T (p.Cys138=)
c.41-3061C>T (n.41-3061C>T)
19g.46704173G>CCA406488797PRKD2c.885C>G (p.Cys295Trp)
c.414C>G (p.Cys138Trp)
c.41-3061C>G (n.41-3061C>G)
19g.46704173G>TCA406488798PRKD2c.885C>A (p.Cys295Ter)
c.414C>A (p.Cys138Ter)
c.41-3061C>A (n.41-3061C>A)
19g.46704174C>ACA406488799PRKD2c.884G>T (p.Cys295Phe)
c.413G>T (p.Cys138Phe)
c.41-3062G>T (n.41-3062G>T)
19g.46704174C>GCA406488800PRKD2c.884G>C (p.Cys295Ser)
c.413G>C (p.Cys138Ser)
c.41-3062G>C (n.41-3062G>C)
19g.46704174C>TCA406488801PRKD2c.884G>A (p.Cys295Tyr)
c.413G>A (p.Cys138Tyr)
c.41-3062G>A (n.41-3062G>A)
19g.46704175A>CCA406488804PRKD2c.883T>G (p.Cys295Gly)
c.412T>G (p.Cys138Gly)
c.41-3063T>G (n.41-3063T>G)
19g.46704175A>GCA406488802PRKD2c.883T>C (p.Cys295Arg)
c.412T>C (p.Cys138Arg)
c.41-3063T>C (n.41-3063T>C)
19g.46704175A>TCA406488803PRKD2c.883T>A (p.Cys295Ser)
c.412T>A (p.Cys138Ser)
c.41-3063T>A (n.41-3063T>A)
19g.46704176T>ACA406488805PRKD2c.882A>T (p.Gln294His)
c.411A>T (p.Gln137His)
c.41-3064A>T (n.41-3064A>T)
19g.46704176T>CCA9531032PRKD2c.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
19g.46704176T>GCA406488806PRKD2c.882A>C (p.Gln294His)
c.411A>C (p.Gln137His)
c.41-3064A>C (n.41-3064A>C)
19g.46704176T=CA2339041863PRKD2c.882A= (p.Gln294=)
c.411A= (p.Gln137=)
c.41-3064A= (n.41-3064A=)
19g.46704177T>ACA406488807PRKD2c.881A>T (p.Gln294Leu)
c.410A>T (p.Gln137Leu)
c.41-3065A>T (n.41-3065A>T)
19g.46704177T>CCA406488808PRKD2c.881A>G (p.Gln294Arg)
c.410A>G (p.Gln137Arg)
c.41-3065A>G (n.41-3065A>G)
19g.46704177T>GCA406488809PRKD2c.881A>C (p.Gln294Pro)
c.410A>C (p.Gln137Pro)
c.41-3065A>C (n.41-3065A>C)
19g.46704178G>ACA406488810PRKD2c.880C>T (p.Gln294Ter)
c.409C>T (p.Gln137Ter)
c.41-3066C>T (n.41-3066C>T)
19g.46704178G>CCA406488811PRKD2c.880C>G (p.Gln294Glu)
c.409C>G (p.Gln137Glu)
c.41-3066C>G (n.41-3066C>G)
19g.46704178G>TCA406488812PRKD2c.880C>A (p.Gln294Lys)
c.409C>A (p.Gln137Lys)
c.41-3066C>A (n.41-3066C>A)
19g.46704179C>ACA507974772PRKD2c.879G>T (p.Leu293=)
c.408G>T (p.Leu136=)
c.41-3067G>T (n.41-3067G>T)
19g.46704179C=CA2339041864PRKD2c.879G= (p.Leu293=)
c.408G= (p.Leu136=)
c.41-3067G= (n.41-3067G=)
19g.46704179C>GCA507974773PRKD2c.879G>C (p.Leu293=)
c.408G>C (p.Leu136=)
c.41-3067G>C (n.41-3067G>C)
19g.46704179C>TCA507974774PRKD2c.879G>A (p.Leu293=)
c.408G>A (p.Leu136=)
c.41-3067G>A (n.41-3067G>A)
dbSNP
19g.46704180A>CCA406488813PRKD2c.878T>G (p.Leu293Arg)
c.407T>G (p.Leu136Arg)
c.41-3068T>G (n.41-3068T>G)
19g.46704180A>GCA406488814PRKD2c.878T>C (p.Leu293Pro)
c.407T>C (p.Leu136Pro)
c.41-3068T>C (n.41-3068T>C)
COSMIC
19g.46704180A>TCA406488815PRKD2c.878T>A (p.Leu293Gln)
c.407T>A (p.Leu136Gln)
c.41-3068T>A (n.41-3068T>A)
19g.46704181G>ACA507974776PRKD2c.877C>T (p.Leu293=)
c.406C>T (p.Leu136=)
c.41-3069C>T (n.41-3069C>T)
19g.46704181G>CCA406488817PRKD2c.877C>G (p.Leu293Val)
c.406C>G (p.Leu136Val)
c.41-3069C>G (n.41-3069C>G)
19g.46704181G>TCA406488816PRKD2c.877C>A (p.Leu293Met)
c.406C>A (p.Leu136Met)
c.41-3069C>A (n.41-3069C>A)
19g.46704182G>ACA507974777PRKD2c.876C>T (p.Gly292=)
c.405C>T (p.Gly135=)
c.41-3070C>T (n.41-3070C>T)
gnomAD v4
19g.46704182G>CCA507974778PRKD2c.876C>G (p.Gly292=)
c.405C>G (p.Gly135=)
c.41-3070C>G (n.41-3070C>G)
19g.46704182G>TCA507974779PRKD2c.876C>A (p.Gly292=)
c.405C>A (p.Gly135=)
c.41-3070C>A (n.41-3070C>A)
gnomAD v4
19g.46704183C>ACA406488818PRKD2c.875G>T (p.Gly292Val)
c.404G>T (p.Gly135Val)
c.41-3071G>T (n.41-3071G>T)
19g.46704183C>GCA406488820PRKD2c.875G>C (p.Gly292Ala)
c.404G>C (p.Gly135Ala)
c.41-3071G>C (n.41-3071G>C)
19g.46704183C>TCA406488819PRKD2c.875G>A (p.Gly292Asp)
c.404G>A (p.Gly135Asp)
c.41-3071G>A (n.41-3071G>A)
19g.46704185delCA2585971175PRKD2c.875del (p.Gly292AlafsTer?)
c.404del (p.Gly135AlafsTer?)
c.41-3071del (n.41-3071del)
gnomAD v4
19g.46704184C>ACA406488821PRKD2c.874G>T (p.Gly292Cys)
c.403G>T (p.Gly135Cys)
c.41-3072G>T (n.41-3072G>T)
19g.46704184C>GCA406488823PRKD2c.874G>C (p.Gly292Arg)
c.403G>C (p.Gly135Arg)
c.41-3072G>C (n.41-3072G>C)
19g.46704184C>TCA406488822PRKD2c.874G>A (p.Gly292Ser)
c.403G>A (p.Gly135Ser)
c.41-3072G>A (n.41-3072G>A)
19g.46704185C>ACA406488824PRKD2c.873G>T (p.Gln291His)
c.402G>T (p.Gln134His)
c.41-3073G>T (n.41-3073G>T)
19g.46704185C>GCA406488825PRKD2c.873G>C (p.Gln291His)
c.402G>C (p.Gln134His)
c.41-3073G>C (n.41-3073G>C)
19g.46704185C>TCA507974782PRKD2c.873G>A (p.Gln291=)
c.402G>A (p.Gln134=)
c.41-3073G>A (n.41-3073G>A)
19g.46704186T>ACA406488826PRKD2c.872A>T (p.Gln291Leu)
c.401A>T (p.Gln134Leu)
c.41-3074A>T (n.41-3074A>T)
19g.46704186T>CCA406488828PRKD2c.872A>G (p.Gln291Arg)
c.401A>G (p.Gln134Arg)
c.41-3074A>G (n.41-3074A>G)
19g.46704186T>GCA406488827PRKD2c.872A>C (p.Gln291Pro)
c.401A>C (p.Gln134Pro)
c.41-3074A>C (n.41-3074A>C)
dbSNP gnomAD v4
19g.46704186T=CA2339041865PRKD2c.872A= (p.Gln291=)
c.401A= (p.Gln134=)
c.41-3074A= (n.41-3074A=)
19g.46704187G>ACA406488829PRKD2c.871C>T (p.Gln291Ter)
c.400C>T (p.Gln134Ter)
c.41-3075C>T (n.41-3075C>T)
19g.46704187G>CCA406488831PRKD2c.871C>G (p.Gln291Glu)
c.400C>G (p.Gln134Glu)
c.41-3075C>G (n.41-3075C>G)
19g.46704187G>TCA406488830PRKD2c.871C>A (p.Gln291Lys)
c.400C>A (p.Gln134Lys)
c.41-3075C>A (n.41-3075C>A)
19g.46704188C>ACA507974787PRKD2c.870G>T (p.Arg290=)
c.399G>T (p.Arg133=)
c.41-3076G>T (n.41-3076G>T)
19g.46704188C>GCA507974786PRKD2c.870G>C (p.Arg290=)
c.399G>C (p.Arg133=)
c.41-3076G>C (n.41-3076G>C)
19g.46704188C>TCA507974785PRKD2c.870G>A (p.Arg290=)
c.399G>A (p.Arg133=)
c.41-3076G>A (n.41-3076G>A)
19g.46704189C>ACA406488832PRKD2c.869G>T (p.Arg290Leu)
c.398G>T (p.Arg133Leu)
c.41-3077G>T (n.41-3077G>T)
gnomAD v4
19g.46704189C=CA2339041866PRKD2c.869G= (p.Arg290=)
c.398G= (p.Arg133=)
c.41-3077G= (n.41-3077G=)
19g.46704189C>GCA406488833PRKD2c.869G>C (p.Arg290Pro)
c.398G>C (p.Arg133Pro)
c.41-3077G>C (n.41-3077G>C)
19g.46704189C>TCA406488834PRKD2c.869G>A (p.Arg290Gln)
c.398G>A (p.Arg133Gln)
c.41-3077G>A (n.41-3077G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.46704190G>ACA406488835PRKD2c.868C>T (p.Arg290Trp)
c.397C>T (p.Arg133Trp)
c.41-3078C>T (n.41-3078C>T)
19g.46704190G>CCA406488836PRKD2c.868C>G (p.Arg290Gly)
c.397C>G (p.Arg133Gly)
c.41-3078C>G (n.41-3078C>G)
19g.46704190G=CA2339041867PRKD2c.868C= (p.Arg290=)
c.397C= (p.Arg133=)
c.41-3078C= (n.41-3078C=)
19g.46704190G>TCA9531033PRKD2c.868C>A (p.Arg290=)
c.397C>A (p.Arg133=)
c.41-3078C>A (n.41-3078C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.46704191G>ACA507974788PRKD2c.867C>T (p.Phe289=)
c.396C>T (p.Phe132=)
c.41-3079C>T (n.41-3079C>T)
dbSNP gnomAD v2 gnomAD v4
19g.46704191G>CCA406488837PRKD2c.867C>G (p.Phe289Leu)
c.396C>G (p.Phe132Leu)
c.41-3079C>G (n.41-3079C>G)
19g.46704191G=CA2339041868PRKD2c.867C= (p.Phe289=)
c.396C= (p.Phe132=)
c.41-3079C= (n.41-3079C=)
19g.46704191G>TCA406488838PRKD2c.867C>A (p.Phe289Leu)
c.396C>A (p.Phe132Leu)
c.41-3079C>A (n.41-3079C>A)
19g.46704192A>CCA406488839PRKD2c.866T>G (p.Phe289Cys)
c.395T>G (p.Phe132Cys)
c.41-3080T>G (n.41-3080T>G)
19g.46704192A>GCA406488840PRKD2c.866T>C (p.Phe289Ser)
c.395T>C (p.Phe132Ser)
c.41-3080T>C (n.41-3080T>C)
19g.46704192A>TCA406488841PRKD2c.866T>A (p.Phe289Tyr)
c.395T>A (p.Phe132Tyr)
c.41-3080T>A (n.41-3080T>A)
19g.46704193A>CCA406488842PRKD2c.865T>G (p.Phe289Val)
c.394T>G (p.Phe132Val)
c.41-3081T>G (n.41-3081T>G)
19g.46704193A>GCA406488844PRKD2c.865T>C (p.Phe289Leu)
c.394T>C (p.Phe132Leu)
c.41-3081T>C (n.41-3081T>C)
19g.46704193A>TCA406488843PRKD2c.865T>A (p.Phe289Ile)
c.394T>A (p.Phe132Ile)
c.41-3081T>A (n.41-3081T>A)
19g.46704194G>ACA507974789PRKD2c.864C>T (p.Leu288=)
c.393C>T (p.Leu131=)
c.41-3082C>T (n.41-3082C>T)
19g.46704194G>CCA507974790PRKD2c.864C>G (p.Leu288=)
c.393C>G (p.Leu131=)
c.41-3082C>G (n.41-3082C>G)
19g.46704194G=CA2339041869PRKD2c.864C= (p.Leu288=)
c.393C= (p.Leu131=)
c.41-3082C= (n.41-3082C=)
19g.46704194G>TCA507974791PRKD2c.864C>A (p.Leu288=)
c.393C>A (p.Leu131=)
c.41-3082C>A (n.41-3082C>A)
dbSNP
19g.46704195A>CCA406488845PRKD2c.863T>G (p.Leu288Arg)
c.392T>G (p.Leu131Arg)
c.41-3083T>G (n.41-3083T>G)
19g.46704195A>GCA406488846PRKD2c.863T>C (p.Leu288Pro)
c.392T>C (p.Leu131Pro)
c.41-3083T>C (n.41-3083T>C)
19g.46704195A>TCA406488847PRKD2c.863T>A (p.Leu288His)
c.392T>A (p.Leu131His)
c.41-3083T>A (n.41-3083T>A)
19g.46704196G>ACA406488848PRKD2c.862C>T (p.Leu288Phe)
c.391C>T (p.Leu131Phe)
c.41-3084C>T (n.41-3084C>T)
19g.46704196G>CCA406488849PRKD2c.862C>G (p.Leu288Val)
c.391C>G (p.Leu131Val)
c.41-3084C>G (n.41-3084C>G)
19g.46704196G>TCA406488850PRKD2c.862C>A (p.Leu288Ile)
c.391C>A (p.Leu131Ile)
c.41-3084C>A (n.41-3084C>A)
19g.46704197G>ACA507974792PRKD2c.861C>T (p.Gly287=)
c.390C>T (p.Gly130=)
c.41-3085C>T (n.41-3085C>T)
19g.46704197G>CCA507974793PRKD2c.861C>G (p.Gly287=)
c.390C>G (p.Gly130=)
c.41-3085C>G (n.41-3085C>G)
19g.46704197G>TCA507974794PRKD2c.861C>A (p.Gly287=)
c.390C>A (p.Gly130=)
c.41-3085C>A (n.41-3085C>A)
19g.46704198C>ACA406488851PRKD2c.860G>T (p.Gly287Val)
c.389G>T (p.Gly130Val)
c.41-3086G>T (n.41-3086G>T)
19g.46704198C>GCA406488852PRKD2c.860G>C (p.Gly287Ala)
c.389G>C (p.Gly130Ala)
c.41-3086G>C (n.41-3086G>C)
19g.46704198C>TCA406488853PRKD2c.860G>A (p.Gly287Asp)
c.389G>A (p.Gly130Asp)
c.41-3086G>A (n.41-3086G>A)
19g.46704199C>ACA406488855PRKD2c.859G>T (p.Gly287Cys)
c.388G>T (p.Gly130Cys)
c.41-3087G>T (n.41-3087G>T)
19g.46704199C>GCA406488856PRKD2c.859G>C (p.Gly287Arg)
c.388G>C (p.Gly130Arg)
c.41-3087G>C (n.41-3087G>C)
19g.46704199C>TCA406488854PRKD2c.859G>A (p.Gly287Ser)
c.388G>A (p.Gly130Ser)
c.41-3087G>A (n.41-3087G>A)
19g.46704200C>ACA406488857PRKD2c.858G>T (p.Lys286Asn)
c.387G>T (p.Lys129Asn)
c.41-3088G>T (n.41-3088G>T)
19g.46704200C>GCA406488858PRKD2c.858G>C (p.Lys286Asn)
c.387G>C (p.Lys129Asn)
c.41-3088G>C (n.41-3088G>C)
19g.46704200C>TCA507974795PRKD2c.858G>A (p.Lys286=)
c.387G>A (p.Lys129=)
c.41-3088G>A (n.41-3088G>A)
19g.46704201T>ACA406488859PRKD2c.857A>T (p.Lys286Met)
c.386A>T (p.Lys129Met)
c.41-3089A>T (n.41-3089A>T)
19g.46704201T>CCA406488860PRKD2c.857A>G (p.Lys286Arg)
c.386A>G (p.Lys129Arg)
c.41-3089A>G (n.41-3089A>G)
19g.46704201T>GCA406488861PRKD2c.857A>C (p.Lys286Thr)
c.386A>C (p.Lys129Thr)
c.41-3089A>C (n.41-3089A>C)
19g.46704202T>ACA406488862PRKD2c.856A>T (p.Lys286Ter)
c.385A>T (p.Lys129Ter)
c.41-3090A>T (n.41-3090A>T)
19g.46704202T>CCA406488863PRKD2c.856A>G (p.Lys286Glu)
c.385A>G (p.Lys129Glu)
c.41-3090A>G (n.41-3090A>G)
gnomAD v4
19g.46704202T>GCA406488864PRKD2c.856A>C (p.Lys286Gln)
c.385A>C (p.Lys129Gln)
c.41-3090A>C (n.41-3090A>C)
19g.46704203G>ACA507974796PRKD2c.855C>T (p.Leu285=)
c.384C>T (p.Leu128=)
c.41-3091C>T (n.41-3091C>T)
gnomAD v4
19g.46704203G>CCA507974797PRKD2c.855C>G (p.Leu285=)
c.384C>G (p.Leu128=)
c.41-3091C>G (n.41-3091C>G)
dbSNP gnomAD v3 gnomAD v4
19g.46704203G=CA2339041870PRKD2c.855C= (p.Leu285=)
c.384C= (p.Leu128=)
c.41-3091C= (n.41-3091C=)
19g.46704203G>TCA507974798PRKD2c.855C>A (p.Leu285=)
c.384C>A (p.Leu128=)
c.41-3091C>A (n.41-3091C>A)
19g.46704204A>CCA406488865PRKD2c.854T>G (p.Leu285Arg)
c.383T>G (p.Leu128Arg)
c.41-3092T>G (n.41-3092T>G)
19g.46704204A>GCA406488866PRKD2c.854T>C (p.Leu285Pro)
c.383T>C (p.Leu128Pro)
c.41-3092T>C (n.41-3092T>C)
19g.46704204A>TCA406488867PRKD2c.854T>A (p.Leu285His)
c.383T>A (p.Leu128His)
c.41-3092T>A (n.41-3092T>A)
19g.46704205G>ACA406488869PRKD2c.853C>T (p.Leu285Phe)
c.382C>T (p.Leu128Phe)
c.41-3093C>T (n.41-3093C>T)
19g.46704205G>CCA406488870PRKD2c.853C>G (p.Leu285Val)
c.382C>G (p.Leu128Val)
c.41-3093C>G (n.41-3093C>G)
19g.46704205G>TCA406488868PRKD2c.853C>A (p.Leu285Ile)
c.382C>A (p.Leu128Ile)
c.41-3093C>A (n.41-3093C>A)
19g.46704206G>ACA507974799PRKD2c.852C>T (p.Leu284=)
c.381C>T (p.Leu127=)
c.41-3094C>T (n.41-3094C>T)
19g.46704206G>CCA507974800PRKD2c.852C>G (p.Leu284=)
c.381C>G (p.Leu127=)
c.41-3094C>G (n.41-3094C>G)
19g.46704206G=CA2339041871PRKD2c.852C= (p.Leu284=)
c.381C= (p.Leu127=)
c.41-3094C= (n.41-3094C=)
19g.46704206G>TCA309105268PRKD2c.852C>A (p.Leu284=)
c.381C>A (p.Leu127=)
c.41-3094C>A (n.41-3094C>A)
dbSNP gnomAD v4
19g.46704207A>CCA406488871PRKD2c.851T>G (p.Leu284Arg)
c.380T>G (p.Leu127Arg)
c.41-3095T>G (n.41-3095T>G)
19g.46704207A>GCA406488872PRKD2c.851T>C (p.Leu284Pro)
c.380T>C (p.Leu127Pro)
c.41-3095T>C (n.41-3095T>C)
19g.46704207A>TCA406488873PRKD2c.851T>A (p.Leu284His)
c.380T>A (p.Leu127His)
c.41-3095T>A (n.41-3095T>A)
19g.46704208G>ACA406488874PRKD2c.850C>T (p.Leu284Phe)
c.379C>T (p.Leu127Phe)
c.41-3096C>T (n.41-3096C>T)
dbSNP
19g.46704208G>CCA406488875PRKD2c.850C>G (p.Leu284Val)
c.379C>G (p.Leu127Val)
c.41-3096C>G (n.41-3096C>G)
19g.46704208G=CA2339041872PRKD2c.850C= (p.Leu284=)
c.379C= (p.Leu127=)
c.41-3096C= (n.41-3096C=)
19g.46704208G>TCA406488876PRKD2c.850C>A (p.Leu284Ile)
c.379C>A (p.Leu127Ile)
c.41-3096C>A (n.41-3096C>A)
19g.46704209T>ACA406488877PRKD2c.849A>T (p.Lys283Asn)
c.378A>T (p.Lys126Asn)
c.41-3097A>T (n.41-3097A>T)
19g.46704209T>CCA507974801PRKD2c.849A>G (p.Lys283=)
c.378A>G (p.Lys126=)
c.41-3097A>G (n.41-3097A>G)
19g.46704209T>GCA406488878PRKD2c.849A>C (p.Lys283Asn)
c.378A>C (p.Lys126Asn)
c.41-3097A>C (n.41-3097A>C)
gnomAD v3 gnomAD v4
19g.46704210T>ACA406488879PRKD2c.848A>T (p.Lys283Ile)
c.377A>T (p.Lys126Ile)
c.41-3098A>T (n.41-3098A>T)
19g.46704210T>CCA406488880PRKD2c.848A>G (p.Lys283Arg)
c.377A>G (p.Lys126Arg)
c.41-3098A>G (n.41-3098A>G)
19g.46704210T>GCA406488881PRKD2c.848A>C (p.Lys283Thr)
c.377A>C (p.Lys126Thr)
c.41-3098A>C (n.41-3098A>C)
19g.46704211T>ACA406488882PRKD2c.847A>T (p.Lys283Ter)
c.376A>T (p.Lys126Ter)
c.41-3099A>T (n.41-3099A>T)
19g.46704211T>CCA406488883PRKD2c.847A>G (p.Lys283Glu)
c.376A>G (p.Lys126Glu)
c.41-3099A>G (n.41-3099A>G)
19g.46704211T>GCA406488884PRKD2c.847A>C (p.Lys283Gln)
c.376A>C (p.Lys126Gln)
c.41-3099A>C (n.41-3099A>C)
19g.46704212C>ACA406488885PRKD2c.846G>T (p.Lys282Asn)
c.375G>T (p.Lys125Asn)
c.41-3100G>T (n.41-3100G>T)
gnomAD v4
19g.46704212C>GCA406488886PRKD2c.846G>C (p.Lys282Asn)
c.375G>C (p.Lys125Asn)
c.41-3100G>C (n.41-3100G>C)
19g.46704212C>TCA507974802PRKD2c.846G>A (p.Lys282=)
c.375G>A (p.Lys125=)
c.41-3100G>A (n.41-3100G>A)
19g.46704213T>ACA406488887PRKD2c.845A>T (p.Lys282Met)
c.374A>T (p.Lys125Met)
c.41-3101A>T (n.41-3101A>T)
19g.46704213T>CCA406488889PRKD2c.845A>G (p.Lys282Arg)
c.374A>G (p.Lys125Arg)
c.41-3101A>G (n.41-3101A>G)
dbSNP gnomAD v2 gnomAD v4
19g.46704213T>GCA406488888PRKD2c.845A>C (p.Lys282Thr)
c.374A>C (p.Lys125Thr)
c.41-3101A>C (n.41-3101A>C)
19g.46704213T=CA2339041873PRKD2c.845A= (p.Lys282=)
c.374A= (p.Lys125=)
c.41-3101A= (n.41-3101A=)
19g.46704214T>ACA406488890PRKD2c.844A>T (p.Lys282Ter)
c.373A>T (p.Lys125Ter)
c.41-3102A>T (n.41-3102A>T)
19g.46704214T>CCA406488891PRKD2c.844A>G (p.Lys282Glu)
c.373A>G (p.Lys125Glu)
c.41-3102A>G (n.41-3102A>G)
19g.46704214T>GCA406488892PRKD2c.844A>C (p.Lys282Gln)
c.373A>C (p.Lys125Gln)
c.41-3102A>C (n.41-3102A>C)
19g.46704215G>ACA507974803PRKD2c.843C>T (p.Cys281=)
c.372C>T (p.Cys124=)
c.41-3103C>T (n.41-3103C>T)
19g.46704215G>CCA406488893PRKD2c.843C>G (p.Cys281Trp)
c.372C>G (p.Cys124Trp)
c.41-3103C>G (n.41-3103C>G)
19g.46704215G>TCA406488894PRKD2c.843C>A (p.Cys281Ter)
c.372C>A (p.Cys124Ter)
c.41-3103C>A (n.41-3103C>A)
19g.46704216C>ACA406488895PRKD2c.842G>T (p.Cys281Phe)
c.371G>T (p.Cys124Phe)
c.41-3104G>T (n.41-3104G>T)
19g.46704216C>GCA406488896PRKD2c.842G>C (p.Cys281Ser)
c.371G>C (p.Cys124Ser)
c.41-3104G>C (n.41-3104G>C)
19g.46704216C>TCA406488897PRKD2c.842G>A (p.Cys281Tyr)
c.371G>A (p.Cys124Tyr)
c.41-3104G>A (n.41-3104G>A)
19g.46704217A>CCA406488898PRKD2c.841T>G (p.Cys281Gly)
c.370T>G (p.Cys124Gly)
c.41-3105T>G (n.41-3105T>G)
19g.46704217A>GCA406488899PRKD2c.841T>C (p.Cys281Arg)
c.370T>C (p.Cys124Arg)
c.41-3105T>C (n.41-3105T>C)
19g.46704217A>TCA406488900PRKD2c.841T>A (p.Cys281Ser)
c.370T>A (p.Cys124Ser)
c.41-3105T>A (n.41-3105T>A)
19g.46704218A=CA2339041874PRKD2c.840T= (p.Ala280=)
c.369T= (p.Ala123=)
c.41-3106T= (n.41-3106T=)
19g.46704218A>CCA507974804PRKD2c.840T>G (p.Ala280=)
c.369T>G (p.Ala123=)
c.41-3106T>G (n.41-3106T>G)
19g.46704218A>GCA507974805PRKD2c.840T>C (p.Ala280=)
c.369T>C (p.Ala123=)
c.41-3106T>C (n.41-3106T>C)
19g.46704218A>TCA507974806PRKD2c.840T>A (p.Ala280=)
c.369T>A (p.Ala123=)
c.41-3106T>A (n.41-3106T>A)
dbSNP
19g.46704219G>ACA406488903PRKD2c.839C>T (p.Ala280Val)
c.368C>T (p.Ala123Val)
c.41-3107C>T (n.41-3107C>T)
19g.46704219G>CCA406488901PRKD2c.839C>G (p.Ala280Gly)
c.368C>G (p.Ala123Gly)
c.41-3107C>G (n.41-3107C>G)
19g.46704219G>TCA406488902PRKD2c.839C>A (p.Ala280Asp)
c.368C>A (p.Ala123Asp)
c.41-3107C>A (n.41-3107C>A)
19g.46704220C>ACA406488904PRKD2c.838G>T (p.Ala280Ser)
c.367G>T (p.Ala123Ser)
c.41-3108G>T (n.41-3108G>T)
gnomAD v4
19g.46704220C>GCA406488905PRKD2c.838G>C (p.Ala280Pro)
c.367G>C (p.Ala123Pro)
c.41-3108G>C (n.41-3108G>C)
19g.46704220C>TCA406488906PRKD2c.838G>A (p.Ala280Thr)
c.367G>A (p.Ala123Thr)
c.41-3108G>A (n.41-3108G>A)
19g.46704221C>ACA406488907PRKD2c.837G>T (p.Gln279His)
c.366G>T (p.Gln122His)
c.41-3109G>T (n.41-3109G>T)
19g.46704221C>GCA406488908PRKD2c.837G>C (p.Gln279His)
c.366G>C (p.Gln122His)
c.41-3109G>C (n.41-3109G>C)
19g.46704221C>TCA507974807PRKD2c.837G>A (p.Gln279=)
c.366G>A (p.Gln122=)
c.41-3109G>A (n.41-3109G>A)
19g.46704222T>ACA406488909PRKD2c.836A>T (p.Gln279Leu)
c.365A>T (p.Gln122Leu)
c.41-3110A>T (n.41-3110A>T)
19g.46704222T>CCA406488910PRKD2c.836A>G (p.Gln279Arg)
c.365A>G (p.Gln122Arg)
c.41-3110A>G (n.41-3110A>G)
19g.46704222T>GCA406488911PRKD2c.836A>C (p.Gln279Pro)
c.365A>C (p.Gln122Pro)
c.41-3110A>C (n.41-3110A>C)
19g.46704223G>ACA406488912PRKD2c.835C>T (p.Gln279Ter)
c.364C>T (p.Gln122Ter)
c.41-3111C>T (n.41-3111C>T)
19g.46704223G>CCA406488913PRKD2c.835C>G (p.Gln279Glu)
c.364C>G (p.Gln122Glu)
c.41-3111C>G (n.41-3111C>G)
gnomAD v4
19g.46704223G>TCA406488914PRKD2c.835C>A (p.Gln279Lys)
c.364C>A (p.Gln122Lys)
c.41-3111C>A (n.41-3111C>A)
19g.46704224G>ACA507974808PRKD2c.834C>T (p.Cys278=)
c.363C>T (p.Cys121=)
c.41-3112C>T (n.41-3112C>T)
19g.46704224G>CCA406488916PRKD2c.834C>G (p.Cys278Trp)
c.363C>G (p.Cys121Trp)
c.41-3112C>G (n.41-3112C>G)
19g.46704224G>TCA406488915PRKD2c.834C>A (p.Cys278Ter)
c.363C>A (p.Cys121Ter)
c.41-3112C>A (n.41-3112C>A)
19g.46704225C>ACA406488917PRKD2c.833G>T (p.Cys278Phe)
c.362G>T (p.Cys121Phe)
c.41-3113G>T (n.41-3113G>T)
19g.46704225C>GCA406488918PRKD2c.833G>C (p.Cys278Ser)
c.362G>C (p.Cys121Ser)
c.41-3113G>C (n.41-3113G>C)
19g.46704225C>TCA406488919PRKD2c.833G>A (p.Cys278Tyr)
c.362G>A (p.Cys121Tyr)
c.41-3113G>A (n.41-3113G>A)
19g.46704226A>CCA406488920PRKD2c.832T>G (p.Cys278Gly)
c.361T>G (p.Cys121Gly)
c.41-3114T>G (n.41-3114T>G)
19g.46704226A>GCA406488921PRKD2c.832T>C (p.Cys278Arg)
c.361T>C (p.Cys121Arg)
c.41-3114T>C (n.41-3114T>C)
19g.46704226A>TCA406488922PRKD2c.832T>A (p.Cys278Ser)
c.361T>A (p.Cys121Ser)
c.41-3114T>A (n.41-3114T>A)
19g.46704227A>CCA507974809PRKD2c.831T>G (p.Val277=)
c.360T>G (p.Val120=)
c.41-3115T>G (n.41-3115T>G)
19g.46704227A>GCA507974810PRKD2c.831T>C (p.Val277=)
c.360T>C (p.Val120=)
c.41-3115T>C (n.41-3115T>C)
19g.46704227A>TCA507974811PRKD2c.831T>A (p.Val277=)
c.360T>A (p.Val120=)
c.41-3115T>A (n.41-3115T>A)
19g.46704228A>CCA406488923PRKD2c.830T>G (p.Val277Gly)
c.359T>G (p.Val120Gly)
c.41-3116T>G (n.41-3116T>G)
19g.46704228A>GCA406488924PRKD2c.830T>C (p.Val277Ala)
c.359T>C (p.Val120Ala)
c.41-3116T>C (n.41-3116T>C)
19g.46704228A>TCA406488925PRKD2c.830T>A (p.Val277Asp)
c.359T>A (p.Val120Asp)
c.41-3116T>A (n.41-3116T>A)
19g.46704229C>ACA406488926PRKD2c.829G>T (p.Val277Phe)
c.358G>T (p.Val120Phe)
c.41-3117G>T (n.41-3117G>T)
19g.46704229C=CA2339041875PRKD2c.829G= (p.Val277=)
c.358G= (p.Val120=)
c.41-3117G= (n.41-3117G=)
19g.46704229C>GCA406488927PRKD2c.829G>C (p.Val277Leu)
c.358G>C (p.Val120Leu)
c.41-3117G>C (n.41-3117G>C)
19g.46704229C>TCA406488928PRKD2c.829G>A (p.Val277Ile)
c.358G>A (p.Val120Ile)
c.41-3117G>A (n.41-3117G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.46704230G>ACA507974814PRKD2c.828C>T (p.Thr276=)
c.357C>T (p.Thr119=)
c.41-3118C>T (n.41-3118C>T)
dbSNP gnomAD v4
19g.46704230G>CCA507974813PRKD2c.828C>G (p.Thr276=)
c.357C>G (p.Thr119=)
c.41-3118C>G (n.41-3118C>G)
19g.46704230G=CA2339041876PRKD2c.828C= (p.Thr276=)
c.357C= (p.Thr119=)
c.41-3118C= (n.41-3118C=)
19g.46704230G>TCA507974812PRKD2c.828C>A (p.Thr276=)
c.357C>A (p.Thr119=)
c.41-3118C>A (n.41-3118C>A)
19g.46704231G>ACA406488930PRKD2c.827C>T (p.Thr276Ile)
c.356C>T (p.Thr119Ile)
c.41-3119C>T (n.41-3119C>T)
19g.46704231G>CCA406488931PRKD2c.827C>G (p.Thr276Ser)
c.356C>G (p.Thr119Ser)
c.41-3119C>G (n.41-3119C>G)
19g.46704231G>TCA406488929PRKD2c.827C>A (p.Thr276Asn)
c.356C>A (p.Thr119Asn)
c.41-3119C>A (n.41-3119C>A)
19g.46704232T>ACA406488932PRKD2c.826A>T (p.Thr276Ser)
c.355A>T (p.Thr119Ser)
c.41-3120A>T (n.41-3120A>T)
19g.46704232T>CCA406488933PRKD2c.826A>G (p.Thr276Ala)
c.355A>G (p.Thr119Ala)
c.41-3120A>G (n.41-3120A>G)
19g.46704232T>GCA406488934PRKD2c.826A>C (p.Thr276Pro)
c.355A>C (p.Thr119Pro)
c.41-3120A>C (n.41-3120A>C)
19g.46704233G>ACA507974815PRKD2c.825C>T (p.Pro275=)
c.354C>T (p.Pro118=)
c.41-3121C>T (n.41-3121C>T)
19g.46704233G>CCA507974816PRKD2c.825C>G (p.Pro275=)
c.354C>G (p.Pro118=)
c.41-3121C>G (n.41-3121C>G)
19g.46704233G>TCA507974817PRKD2c.825C>A (p.Pro275=)
c.354C>A (p.Pro118=)
c.41-3121C>A (n.41-3121C>A)
19g.46704234G>ACA406488935PRKD2c.824C>T (p.Pro275Leu)
c.353C>T (p.Pro118Leu)
c.41-3122C>T (n.41-3122C>T)
gnomAD v4
19g.46704234G>CCA406488936PRKD2c.824C>G (p.Pro275Arg)
c.353C>G (p.Pro118Arg)
c.41-3122C>G (n.41-3122C>G)
19g.46704234G>TCA406488937PRKD2c.824C>A (p.Pro275His)
c.353C>A (p.Pro118His)
c.41-3122C>A (n.41-3122C>A)
19g.46704235G>ACA406488938PRKD2c.823C>T (p.Pro275Ser)
c.352C>T (p.Pro118Ser)
c.41-3123C>T (n.41-3123C>T)
19g.46704235G>CCA406488940PRKD2c.823C>G (p.Pro275Ala)
c.352C>G (p.Pro118Ala)
c.41-3123C>G (n.41-3123C>G)
19g.46704235G>TCA406488939PRKD2c.823C>A (p.Pro275Thr)
c.352C>A (p.Pro118Thr)
c.41-3123C>A (n.41-3123C>A)
19g.46704236C>ACA507974818PRKD2c.822G>T (p.Arg274=)
c.351G>T (p.Arg117=)
c.41-3124G>T (n.41-3124G>T)
19g.46704236C>GCA507974819PRKD2c.822G>C (p.Arg274=)
c.351G>C (p.Arg117=)
c.41-3124G>C (n.41-3124G>C)
19g.46704236C>TCA507974820PRKD2c.822G>A (p.Arg274=)
c.351G>A (p.Arg117=)
c.41-3124G>A (n.41-3124G>A)
COSMIC
19g.46704237C>ACA406488941PRKD2c.821G>T (p.Arg274Leu)
c.350G>T (p.Arg117Leu)
c.41-3125G>T (n.41-3125G>T)
19g.46704237C=CA2339041877PRKD2c.821G= (p.Arg274=)
c.350G= (p.Arg117=)
c.41-3125G= (n.41-3125G=)
19g.46704237C>GCA406488942PRKD2c.821G>C (p.Arg274Pro)
c.350G>C (p.Arg117Pro)
c.41-3125G>C (n.41-3125G>C)
19g.46704237C>TCA406488943PRKD2c.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
19g.46704238G>ACA406488944PRKD2c.820C>T (p.Arg274Trp)
c.349C>T (p.Arg117Trp)
c.41-3126C>T (n.41-3126C>T)
19g.46704238G>CCA406488945PRKD2c.820C>G (p.Arg274Gly)
c.349C>G (p.Arg117Gly)
c.41-3126C>G (n.41-3126C>G)
19g.46704238G=CA2339041878PRKD2c.820C= (p.Arg274=)
c.349C= (p.Arg117=)
c.41-3126C= (n.41-3126C=)
19g.46704238G>TCA507974821PRKD2c.820C>A (p.Arg274=)
c.349C>A (p.Arg117=)
c.41-3126C>A (n.41-3126C>A)
dbSNP gnomAD v3 gnomAD v4
19g.46704239T>ACA9531035PRKD2c.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
19g.46704239T>CCA9531034PRKD2c.819A>G (p.Thr273=)
c.348A>G (p.Thr116=)
c.41-3127A>G (n.41-3127A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.46704239T>GCA507974822PRKD2c.819A>C (p.Thr273=)
c.348A>C (p.Thr116=)
c.41-3127A>C (n.41-3127A>C)
19g.46704239T=CA2339041879PRKD2c.819A= (p.Thr273=)
c.348A= (p.Thr116=)
c.41-3127A= (n.41-3127A=)
19g.46704240G>ACA406488946PRKD2c.818C>T (p.Thr273Ile)
c.347C>T (p.Thr116Ile)
c.41-3128C>T (n.41-3128C>T)
19g.46704240G>CCA406488948PRKD2c.818C>G (p.Thr273Arg)
c.347C>G (p.Thr116Arg)
c.41-3128C>G (n.41-3128C>G)
19g.46704240G>TCA406488947PRKD2c.818C>A (p.Thr273Lys)
c.347C>A (p.Thr116Lys)
c.41-3128C>A (n.41-3128C>A)
19g.46704241T>ACA406488949PRKD2c.817A>T (p.Thr273Ser)
c.346A>T (p.Thr116Ser)
c.41-3129A>T (n.41-3129A>T)
19g.46704241T>CCA406488950PRKD2c.817A>G (p.Thr273Ala)
c.346A>G (p.Thr116Ala)
c.41-3129A>G (n.41-3129A>G)
gnomAD v4
19g.46704241T>GCA406488951PRKD2c.817A>C (p.Thr273Pro)
c.346A>C (p.Thr116Pro)
c.41-3129A>C (n.41-3129A>C)
19g.46704242A>CCA406488952PRKD2c.816T>G (p.Tyr272Ter)
c.345T>G (p.Tyr115Ter)
c.41-3130T>G (n.41-3130T>G)
19g.46704242A>GCA507974823PRKD2c.816T>C (p.Tyr272=)
c.345T>C (p.Tyr115=)
c.41-3130T>C (n.41-3130T>C)
gnomAD v4
19g.46704242A>TCA406488953PRKD2c.816T>A (p.Tyr272Ter)
c.345T>A (p.Tyr115Ter)
c.41-3130T>A (n.41-3130T>A)
19g.46704243T>ACA406488954PRKD2c.815A>T (p.Tyr272Phe)
c.344A>T (p.Tyr115Phe)
c.41-3131A>T (n.41-3131A>T)
19g.46704243T>CCA406488955PRKD2c.815A>G (p.Tyr272Cys)
c.344A>G (p.Tyr115Cys)
c.41-3131A>G (n.41-3131A>G)
19g.46704243T>GCA406488956PRKD2c.815A>C (p.Tyr272Ser)
c.344A>C (p.Tyr115Ser)
c.41-3131A>C (n.41-3131A>C)
19g.46704244A>CCA406488957PRKD2c.814T>G (p.Tyr272Asp)
c.343T>G (p.Tyr115Asp)
c.41-3132T>G (n.41-3132T>G)
19g.46704244A>GCA406488958PRKD2c.814T>C (p.Tyr272His)
c.343T>C (p.Tyr115His)
c.41-3132T>C (n.41-3132T>C)
19g.46704244A>TCA406488959PRKD2c.814T>A (p.Tyr272Asn)
c.343T>A (p.Tyr115Asn)
c.41-3132T>A (n.41-3132T>A)
19g.46704245G>ACA507974824PRKD2c.813C>T (p.Ser271=)
c.342C>T (p.Ser114=)
c.41-3133C>T (n.41-3133C>T)
19g.46704245G>CCA406488960PRKD2c.813C>G (p.Ser271Arg)
c.342C>G (p.Ser114Arg)
c.41-3133C>G (n.41-3133C>G)
19g.46704245G>TCA406488961PRKD2c.813C>A (p.Ser271Arg)
c.342C>A (p.Ser114Arg)
c.41-3133C>A (n.41-3133C>A)
19g.46704246C>ACA406488963PRKD2c.812G>T (p.Ser271Ile)
c.341G>T (p.Ser114Ile)
c.41-3134G>T (n.41-3134G>T)
19g.46704246C=CA2339041880PRKD2c.812G= (p.Ser271=)
c.341G= (p.Ser114=)
c.41-3134G= (n.41-3134G=)
19g.46704246C>GCA406488962PRKD2c.812G>C (p.Ser271Thr)
c.341G>C (p.Ser114Thr)
c.41-3134G>C (n.41-3134G>C)
dbSNP gnomAD v2 gnomAD v4
19g.46704246C>TCA309105275PRKD2c.812G>A (p.Ser271Asn)
c.341G>A (p.Ser114Asn)
c.41-3134G>A (n.41-3134G>A)
dbSNP gnomAD v3 gnomAD v4
19g.46704247T>ACA406488964PRKD2c.811A>T (p.Ser271Cys)
c.340A>T (p.Ser114Cys)
c.41-3135A>T (n.41-3135A>T)
19g.46704247T>CCA406488965PRKD2c.811A>G (p.Ser271Gly)
c.340A>G (p.Ser114Gly)
c.41-3135A>G (n.41-3135A>G)
gnomAD v4
19g.46704247T>GCA406488966PRKD2c.811A>C (p.Ser271Arg)
c.340A>C (p.Ser114Arg)
c.41-3135A>C (n.41-3135A>C)
19g.46704248G>ACA507974825PRKD2c.810C>T (p.His270=)
c.339C>T (p.His113=)
c.41-3136C>T (n.41-3136C>T)
19g.46704248G>CCA9531036PRKD2c.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
19g.46704248G=CA2339041881PRKD2c.810C= (p.His270=)
c.339C= (p.His113=)
c.41-3136C= (n.41-3136C=)
19g.46704248G>TCA406488967PRKD2c.810C>A (p.His270Gln)
c.339C>A (p.His113Gln)
c.41-3136C>A (n.41-3136C>A)
19g.46704249T>ACA406488968PRKD2c.809A>T (p.His270Leu)
c.338A>T (p.His113Leu)
c.41-3137A>T (n.41-3137A>T)
gnomAD v4
19g.46704249T>CCA9531037PRKD2c.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
19g.46704249T>GCA406488969PRKD2c.809A>C (p.His270Pro)
c.338A>C (p.His113Pro)
c.41-3137A>C (n.41-3137A>C)
19g.46704249T=CA2339041882PRKD2c.809A= (p.His270=)
c.338A= (p.His113=)
c.41-3137A= (n.41-3137A=)
19g.46704250G>ACA406488970PRKD2c.808C>T (p.His270Tyr)
c.337C>T (p.His113Tyr)
c.41-3138C>T (n.41-3138C>T)
19g.46704250G>CCA406488971PRKD2c.808C>G (p.His270Asp)
c.337C>G (p.His113Asp)
c.41-3138C>G (n.41-3138C>G)
19g.46704250G>TCA406488972PRKD2c.808C>A (p.His270Asn)
c.337C>A (p.His113Asn)
c.41-3138C>A (n.41-3138C>A)
19g.46704251G>ACA507974826PRKD2c.807C>T (p.Ile269=)
c.336C>T (p.Ile112=)
c.41-3139C>T (n.41-3139C>T)
19g.46704251G>CCA406488973PRKD2c.807C>G (p.Ile269Met)
c.336C>G (p.Ile112Met)
c.41-3139C>G (n.41-3139C>G)
19g.46704251G>TCA507974827PRKD2c.807C>A (p.Ile269=)
c.336C>A (p.Ile112=)
c.41-3139C>A (n.41-3139C>A)
gnomAD v4
19g.46704252A>CCA406488974PRKD2c.806T>G (p.Ile269Ser)
c.335T>G (p.Ile112Ser)
c.41-3140T>G (n.41-3140T>G)
19g.46704252A>GCA406488976PRKD2c.806T>C (p.Ile269Thr)
c.335T>C (p.Ile112Thr)
c.41-3140T>C (n.41-3140T>C)
19g.46704252A>TCA406488975PRKD2c.806T>A (p.Ile269Asn)
c.335T>A (p.Ile112Asn)
c.41-3140T>A (n.41-3140T>A)
19g.46704253T>ACA406488977PRKD2c.805A>T (p.Ile269Phe)
c.334A>T (p.Ile112Phe)
c.41-3141A>T (n.41-3141A>T)
gnomAD v4
19g.46704253T>CCA406488978PRKD2c.805A>G (p.Ile269Val)
c.334A>G (p.Ile112Val)
c.41-3141A>G (n.41-3141A>G)
dbSNP COSMIC
19g.46704253T>GCA406488979PRKD2c.805A>C (p.Ile269Leu)
c.334A>C (p.Ile112Leu)
c.41-3141A>C (n.41-3141A>C)
19g.46704253T=CA2339041883PRKD2c.805A= (p.Ile269=)
c.334A= (p.Ile112=)
c.41-3141A= (n.41-3141A=)
19g.46704254G>ACA507974828PRKD2c.804C>T (p.Leu268=)
c.333C>T (p.Leu111=)
c.41-3142C>T (n.41-3142C>T)
19g.46704254G>CCA507974829PRKD2c.804C>G (p.Leu268=)
c.333C>G (p.Leu111=)
c.41-3142C>G (n.41-3142C>G)
19g.46704254G>TCA507974830PRKD2c.804C>A (p.Leu268=)
c.333C>A (p.Leu111=)
c.41-3142C>A (n.41-3142C>A)
19g.46704255A>CCA406488980PRKD2c.803T>G (p.Leu268Arg)
c.332T>G (p.Leu111Arg)
c.41-3143T>G (n.41-3143T>G)
19g.46704255A>GCA406488981PRKD2c.803T>C (p.Leu268Pro)
c.332T>C (p.Leu111Pro)
c.41-3143T>C (n.41-3143T>C)
19g.46704255A>TCA406488982PRKD2c.803T>A (p.Leu268His)
c.332T>A (p.Leu111His)
c.41-3143T>A (n.41-3143T>A)
gnomAD v4
19g.46704256G>ACA406488983PRKD2c.802C>T (p.Leu268Phe)
c.331C>T (p.Leu111Phe)
c.41-3144C>T (n.41-3144C>T)
19g.46704256G>CCA406488984PRKD2c.802C>G (p.Leu268Val)
c.331C>G (p.Leu111Val)
c.41-3144C>G (n.41-3144C>G)
19g.46704256G>TCA406488985PRKD2c.802C>A (p.Leu268Ile)
c.331C>A (p.Leu111Ile)
c.41-3144C>A (n.41-3144C>A)
19g.46704257G>ACA507974831PRKD2c.801C>T (p.Phe267=)
c.330C>T (p.Phe110=)
c.41-3145C>T (n.41-3145C>T)
gnomAD v4
19g.46704257G>CCA406488986PRKD2c.801C>G (p.Phe267Leu)
c.330C>G (p.Phe110Leu)
c.41-3145C>G (n.41-3145C>G)
19g.46704257G>TCA406488987PRKD2c.801C>A (p.Phe267Leu)
c.330C>A (p.Phe110Leu)
c.41-3145C>A (n.41-3145C>A)
19g.46704258A>CCA406488990PRKD2c.800T>G (p.Phe267Cys)
c.329T>G (p.Phe110Cys)
c.41-3146T>G (n.41-3146T>G)
19g.46704258A>GCA406488988PRKD2c.800T>C (p.Phe267Ser)
c.329T>C (p.Phe110Ser)
c.41-3146T>C (n.41-3146T>C)
19g.46704258A>TCA406488989PRKD2c.800T>A (p.Phe267Tyr)
c.329T>A (p.Phe110Tyr)
c.41-3146T>A (n.41-3146T>A)
19g.46704259A>CCA406488991PRKD2c.799T>G (p.Phe267Val)
c.328T>G (p.Phe110Val)
c.41-3147T>G (n.41-3147T>G)
19g.46704259A>GCA406488992PRKD2c.799T>C (p.Phe267Leu)
c.328T>C (p.Phe110Leu)
c.41-3147T>C (n.41-3147T>C)
19g.46704259A>TCA406488993PRKD2c.799T>A (p.Phe267Ile)
c.328T>A (p.Phe110Ile)
c.41-3147T>A (n.41-3147T>A)
19g.46704260G>ACA507974833PRKD2c.798C>T (p.Thr266=)
c.327C>T (p.Thr109=)
c.41-3148C>T (n.41-3148C>T)
gnomAD v4
19g.46704260G>CCA507974834PRKD2c.798C>G (p.Thr266=)
c.327C>G (p.Thr109=)
c.41-3148C>G (n.41-3148C>G)
19g.46704260G>TCA507974835PRKD2c.798C>A (p.Thr266=)
c.327C>A (p.Thr109=)
c.41-3148C>A (n.41-3148C>A)
19g.46704261G>ACA406488995PRKD2c.797C>T (p.Thr266Ile)
c.326C>T (p.Thr109Ile)
c.41-3149C>T (n.41-3149C>T)
gnomAD v4
19g.46704261G>CCA406488997PRKD2c.797C>G (p.Thr266Ser)
c.326C>G (p.Thr109Ser)
c.41-3149C>G (n.41-3149C>G)
gnomAD v4
19g.46704261G>TCA406488998PRKD2c.797C>A (p.Thr266Asn)
c.326C>A (p.Thr109Asn)
c.41-3149C>A (n.41-3149C>A)
19g.46704262T>ACA309105283PRKD2c.796A>T (p.Thr266Ser)
c.325A>T (p.Thr109Ser)
c.41-3150A>T (n.41-3150A>T)
dbSNP gnomAD v3 gnomAD v4
19g.46704262T>CCA406489000PRKD2c.796A>G (p.Thr266Ala)
c.325A>G (p.Thr109Ala)
c.41-3150A>G (n.41-3150A>G)
19g.46704262T>GCA406489002PRKD2c.796A>C (p.Thr266Pro)
c.325A>C (p.Thr109Pro)
c.41-3150A>C (n.41-3150A>C)
19g.46704262T=CA2339041884PRKD2c.796A= (p.Thr266=)
c.325A= (p.Thr109=)
c.41-3150A= (n.41-3150A=)
19g.46704263G>ACA507974837PRKD2c.795C>T (p.His265=)
c.324C>T (p.His108=)
c.41-3151C>T (n.41-3151C>T)
19g.46704263G>CCA406489003PRKD2c.795C>G (p.His265Gln)
c.324C>G (p.His108Gln)
c.41-3151C>G (n.41-3151C>G)
19g.46704263G>TCA406489005PRKD2c.795C>A (p.His265Gln)
c.324C>A (p.His108Gln)
c.41-3151C>A (n.41-3151C>A)
19g.46704264T>ACA406489008PRKD2c.794A>T (p.His265Leu)
c.323A>T (p.His108Leu)
c.41-3152A>T (n.41-3152A>T)
19g.46704264T>CCA406489010PRKD2c.794A>G (p.His265Arg)
c.323A>G (p.His108Arg)
c.41-3152A>G (n.41-3152A>G)
19g.46704264T>GCA406489007PRKD2c.794A>C (p.His265Pro)
c.323A>C (p.His108Pro)
c.41-3152A>C (n.41-3152A>C)
19g.46704265G>ACA406489014PRKD2c.793C>T (p.His265Tyr)
c.322C>T (p.His108Tyr)
c.41-3153C>T (n.41-3153C>T)
19g.46704265G>CCA406489012PRKD2c.793C>G (p.His265Asp)
c.322C>G (p.His108Asp)
c.41-3153C>G (n.41-3153C>G)
19g.46704265G>TCA406489013PRKD2c.793C>A (p.His265Asn)
c.322C>A (p.His108Asn)
c.41-3153C>A (n.41-3153C>A)
19g.46704266C>ACA507974838PRKD2c.792G>T (p.Pro264=)
c.321G>T (p.Pro107=)
c.41-3154G>T (n.41-3154G>T)
19g.46704266C=CA2339041885PRKD2c.792G= (p.Pro264=)
c.321G= (p.Pro107=)
c.41-3154G= (n.41-3154G=)
19g.46704266C>GCA507974839PRKD2c.792G>C (p.Pro264=)
c.321G>C (p.Pro107=)
c.41-3154G>C (n.41-3154G>C)
19g.46704266C>TCA9531038PRKD2c.792G>A (p.Pro264=)
c.321G>A (p.Pro107=)
c.41-3154G>A (n.41-3154G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.46704267G>ACA406489016PRKD2c.791C>T (p.Pro264Leu)
c.320C>T (p.Pro107Leu)
c.41-3155C>T (n.41-3155C>T)
dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.46704267G>CCA406489018PRKD2c.791C>G (p.Pro264Arg)
c.320C>G (p.Pro107Arg)
c.41-3155C>G (n.41-3155C>G)
19g.46704267G=CA2339041886PRKD2c.791C= (p.Pro264=)
c.320C= (p.Pro107=)
c.41-3155C= (n.41-3155C=)
19g.46704267G>TCA406489020PRKD2c.791C>A (p.Pro264Gln)
c.320C>A (p.Pro107Gln)
c.41-3155C>A (n.41-3155C>A)

Number of alleles fetched