Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
19g.46704268G>ACA406489021PRKD2c.790C>T (p.Pro264Ser)
c.319C>T (p.Pro107Ser)
c.41-3156C>T (n.41-3156C>T)
19g.46704268G>CCA406489023PRKD2c.790C>G (p.Pro264Ala)
c.319C>G (p.Pro107Ala)
c.41-3156C>G (n.41-3156C>G)
19g.46704268G>TCA406489024PRKD2c.790C>A (p.Pro264Thr)
c.319C>A (p.Pro107Thr)
c.41-3156C>A (n.41-3156C>A)
19g.46704269C>ACA507974841PRKD2c.789G>T (p.Val263=)
c.318G>T (p.Val106=)
c.41-3157G>T (n.41-3157G>T)
COSMIC
19g.46704269C>GCA507974842PRKD2c.789G>C (p.Val263=)
c.318G>C (p.Val106=)
c.41-3157G>C (n.41-3157G>C)
19g.46704269C>TCA507974843PRKD2c.789G>A (p.Val263=)
c.318G>A (p.Val106=)
c.41-3157G>A (n.41-3157G>A)
gnomAD v4
19g.46704270A>CCA406489026PRKD2c.788T>G (p.Val263Gly)
c.317T>G (p.Val106Gly)
c.41-3158T>G (n.41-3158T>G)
19g.46704270A>GCA406489027PRKD2c.788T>C (p.Val263Ala)
c.317T>C (p.Val106Ala)
c.41-3158T>C (n.41-3158T>C)
19g.46704270A>TCA406489028PRKD2c.788T>A (p.Val263Glu)
c.317T>A (p.Val106Glu)
c.41-3158T>A (n.41-3158T>A)
19g.46704271C>ACA406489032PRKD2c.787G>T (p.Val263Leu)
c.316G>T (p.Val106Leu)
c.41-3159G>T (n.41-3159G>T)
19g.46704271C>GCA406489033PRKD2c.787G>C (p.Val263Leu)
c.316G>C (p.Val106Leu)
c.41-3159G>C (n.41-3159G>C)
19g.46704271C>TCA406489030PRKD2c.787G>A (p.Val263Met)
c.316G>A (p.Val106Met)
c.41-3159G>A (n.41-3159G>A)
19g.46704272C>ACA309105284PRKD2c.786G>T (p.Lys262Asn)
c.315G>T (p.Lys105Asn)
c.41-3160G>T (n.41-3160G>T)
dbSNP
19g.46704272C=CA2339041887PRKD2c.786G= (p.Lys262=)
c.315G= (p.Lys105=)
c.41-3160G= (n.41-3160G=)
19g.46704272C>GCA406489034PRKD2c.786G>C (p.Lys262Asn)
c.315G>C (p.Lys105Asn)
c.41-3160G>C (n.41-3160G>C)
gnomAD v4
19g.46704272C>TCA507974845PRKD2c.786G>A (p.Lys262=)
c.315G>A (p.Lys105=)
c.41-3160G>A (n.41-3160G>A)
gnomAD v4
19g.46704273T>ACA406489035PRKD2c.785A>T (p.Lys262Met)
c.314A>T (p.Lys105Met)
c.41-3161A>T (n.41-3161A>T)
19g.46704273T>CCA406489036PRKD2c.785A>G (p.Lys262Arg)
c.314A>G (p.Lys105Arg)
c.41-3161A>G (n.41-3161A>G)
19g.46704273T>GCA406489038PRKD2c.785A>C (p.Lys262Thr)
c.314A>C (p.Lys105Thr)
c.41-3161A>C (n.41-3161A>C)
19g.46704274T>ACA406489043PRKD2c.784A>T (p.Lys262Ter)
c.313A>T (p.Lys105Ter)
c.41-3162A>T (n.41-3162A>T)
19g.46704274T>CCA406489040PRKD2c.784A>G (p.Lys262Glu)
c.313A>G (p.Lys105Glu)
c.41-3162A>G (n.41-3162A>G)
19g.46704274T>GCA406489042PRKD2c.784A>C (p.Lys262Gln)
c.313A>C (p.Lys105Gln)
c.41-3162A>C (n.41-3162A>C)
19g.46704275G>ACA507974847PRKD2c.783C>T (p.Val261=)
c.312C>T (p.Val104=)
c.41-3163C>T (n.41-3163C>T)
19g.46704275G>CCA507974848PRKD2c.783C>G (p.Val261=)
c.312C>G (p.Val104=)
c.41-3163C>G (n.41-3163C>G)
19g.46704275G>TCA507974850PRKD2c.783C>A (p.Val261=)
c.312C>A (p.Val104=)
c.41-3163C>A (n.41-3163C>A)
19g.46704276A>CCA406489045PRKD2c.782T>G (p.Val261Gly)
c.311T>G (p.Val104Gly)
c.41-3164T>G (n.41-3164T>G)
19g.46704276A>GCA406489047PRKD2c.782T>C (p.Val261Ala)
c.311T>C (p.Val104Ala)
c.41-3164T>C (n.41-3164T>C)
19g.46704276A>TCA406489048PRKD2c.782T>A (p.Val261Asp)
c.311T>A (p.Val104Asp)
c.41-3164T>A (n.41-3164T>A)
19g.46704277C>ACA406489050PRKD2c.781G>T (p.Val261Phe)
c.310G>T (p.Val104Phe)
c.41-3165G>T (n.41-3165G>T)
19g.46704277C>GCA406489052PRKD2c.781G>C (p.Val261Leu)
c.310G>C (p.Val104Leu)
c.41-3165G>C (n.41-3165G>C)
19g.46704277C>TCA406489054PRKD2c.781G>A (p.Val261Ile)
c.310G>A (p.Val104Ile)
c.41-3165G>A (n.41-3165G>A)
gnomAD v4
19g.46704278C>ACA406489056PRKD2c.780G>T (p.Lys260Asn)
c.309G>T (p.Lys103Asn)
c.41-3166G>T (n.41-3166G>T)
dbSNP
19g.46704278C=CA2339041888PRKD2c.780G= (p.Lys260=)
c.309G= (p.Lys103=)
c.41-3166G= (n.41-3166G=)
19g.46704278C>GCA406489057PRKD2c.780G>C (p.Lys260Asn)
c.309G>C (p.Lys103Asn)
c.41-3166G>C (n.41-3166G>C)
19g.46704278C>TCA309105287PRKD2c.780G>A (p.Lys260=)
c.309G>A (p.Lys103=)
c.41-3166G>A (n.41-3166G>A)
dbSNP gnomAD v3 gnomAD v4
19g.46704279T>ACA406489059PRKD2c.779A>T (p.Lys260Met)
c.308A>T (p.Lys103Met)
c.41-3167A>T (n.41-3167A>T)
19g.46704279T>CCA406489060PRKD2c.779A>G (p.Lys260Arg)
c.308A>G (p.Lys103Arg)
c.41-3167A>G (n.41-3167A>G)
gnomAD v4
19g.46704279T>GCA406489062PRKD2c.779A>C (p.Lys260Thr)
c.308A>C (p.Lys103Thr)
c.41-3167A>C (n.41-3167A>C)
19g.46704280T>ACA406489064PRKD2c.778A>T (p.Lys260Ter)
c.307A>T (p.Lys103Ter)
c.41-3168A>T (n.41-3168A>T)
19g.46704280T>CCA406489065PRKD2c.778A>G (p.Lys260Glu)
c.307A>G (p.Lys103Glu)
c.41-3168A>G (n.41-3168A>G)
19g.46704280T>GCA406489067PRKD2c.778A>C (p.Lys260Gln)
c.307A>C (p.Lys103Gln)
c.41-3168A>C (n.41-3168A>C)
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)

Number of alleles fetched