Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.30956250_30956264delinsGAGCAGGGCCAGGTTCA2255437242ADAP2c.892_906delinsGAGCAGGGCCAGGTT (p.Glu298=)
n.312_326delinsGAGCAGGGCCAGGTT
n.326_340delinsGAGCAGGGCCAGGTT
c.910_924delinsGAGCAGGGCCAGGTT (p.Glu304=)
c.808_822delinsGAGCAGGGCCAGGTT (p.Glu270=)
c.261_275delinsGAGCAGGGCCAGGTT
c.184_198delinsGAGCAGGGCCAGGTT (p.Glu62=)
c.*491_*505delinsGAGCAGGGCCAGGTT (n.*491_*505delinsGAGCAGGGCCAGGTT)
c.847_861delinsGAGCAGGGCCAGGTT (p.Glu283=)
c.907_921delinsGAGCAGGGCCAGGTT (p.Glu303=)
c.889_903delinsGAGCAGGGCCAGGTT (p.Glu297=)
n.1091_1105delinsGAGCAGGGCCAGGTT
c.526_540delinsGAGCAGGGCCAGGTT (p.Glu176=)
n.882_896delinsGAGCAGGGCCAGGTT
17g.30956251_30956264delCA625463659ADAP2c.893_906del (p.Glu298ValfsTer10)
n.313_326del
n.327_340del
c.911_924del (p.Glu304ValfsTer10)
c.809_822del (p.Glu270ValfsTer10)
c.262_275del
c.185_198del (p.Glu62ValfsTer10)
c.*492_*505del (n.*492_*505del)
c.848_861del (p.Glu283ValfsTer10)
c.908_921del (p.Glu303ValfsTer10)
c.890_903del (p.Glu297ValfsTer10)
n.1092_1105del
c.527_540del (p.Glu176ValfsTer10)
n.883_896del
dbSNP gnomAD v2 gnomAD v4
17g.30956254_30956270delinsAGGGCCAGGTTTTTCTTCA2255437244ADAP2c.896_912delinsAGGGCCAGGTTTTTCTT (p.Gln299=)
n.316_332delinsAGGGCCAGGTTTTTCTT
n.330_346delinsAGGGCCAGGTTTTTCTT
c.914_930delinsAGGGCCAGGTTTTTCTT (p.Gln305=)
c.812_828delinsAGGGCCAGGTTTTTCTT (p.Gln271=)
c.265_281delinsAGGGCCAGGTTTTTCTT
c.188_204delinsAGGGCCAGGTTTTTCTT (p.Gln63=)
c.*495_*511delinsAGGGCCAGGTTTTTCTT (n.*495_*511delinsAGGGCCAGGTTTTTCTT)
c.851_867delinsAGGGCCAGGTTTTTCTT (p.Gln284=)
c.911_927delinsAGGGCCAGGTTTTTCTT (p.Gln304=)
c.893_909delinsAGGGCCAGGTTTTTCTT (p.Gln298=)
n.1095_1111delinsAGGGCCAGGTTTTTCTT
c.530_546delinsAGGGCCAGGTTTTTCTT (p.Gln177=)
n.886_902delinsAGGGCCAGGTTTTTCTT
17g.30956258_30956273delCA8485046ADAP2c.900_915del (p.Gln301ThrfsTer?)
n.320_335del
n.334_349del
c.918_933del (p.Gln307ThrfsTer?)
c.816_831del (p.Gln273ThrfsTer?)
c.269_284del
c.192_207del (p.Gln65ThrfsTer?)
c.*499_*514del (n.*499_*514del)
c.855_870del (p.Gln286ThrfsTer?)
c.915_930del (p.Gln306ThrfsTer?)
c.897_912del (p.Gln300ThrfsTer?)
n.1099_1114del
c.534_549del (p.Gln179ThrfsTer?)
n.890_905del
dbSNP ExAC gnomAD v2
17g.30956258C>ACA499226066ADAP2c.900C>A (p.Gly300=)
n.320C>A
n.334C>A
c.918C>A (p.Gly306=)
c.816C>A (p.Gly272=)
c.269C>A
c.192C>A (p.Gly64=)
c.*499C>A (n.*499C>A)
c.855C>A (p.Gly285=)
c.915C>A (p.Gly305=)
c.897C>A (p.Gly299=)
n.1099C>A
c.534C>A (p.Gly178=)
n.890C>A
17g.30956258C=CA2255437246ADAP2c.900C= (p.Gly300=)
n.320C=
n.334C=
c.918C= (p.Gly306=)
c.816C= (p.Gly272=)
c.269C=
c.192C= (p.Gly64=)
c.*499C= (n.*499C=)
c.855C= (p.Gly285=)
c.915C= (p.Gly305=)
c.897C= (p.Gly299=)
n.1099C=
c.534C= (p.Gly178=)
n.890C=
17g.30956258C>GCA499226068ADAP2c.900C>G (p.Gly300=)
n.320C>G
n.334C>G
c.918C>G (p.Gly306=)
c.816C>G (p.Gly272=)
c.269C>G
c.192C>G (p.Gly64=)
c.*499C>G (n.*499C>G)
c.855C>G (p.Gly285=)
c.915C>G (p.Gly305=)
c.897C>G (p.Gly299=)
n.1099C>G
c.534C>G (p.Gly178=)
n.890C>G
17g.30956258C>TCA499226071ADAP2c.900C>T (p.Gly300=)
n.320C>T
n.334C>T
c.918C>T (p.Gly306=)
c.816C>T (p.Gly272=)
c.269C>T
c.192C>T (p.Gly64=)
c.*499C>T (n.*499C>T)
c.855C>T (p.Gly285=)
c.915C>T (p.Gly305=)
c.897C>T (p.Gly299=)
n.1099C>T
c.534C>T (p.Gly178=)
n.890C>T
dbSNP gnomAD v4
17g.30956259C>ACA398978992ADAP2c.901C>A (p.Gln301Lys)
n.321C>A
n.335C>A
c.919C>A (p.Gln307Lys)
c.817C>A (p.Gln273Lys)
c.270C>A
c.193C>A (p.Gln65Lys)
c.*500C>A (n.*500C>A)
c.856C>A (p.Gln286Lys)
c.916C>A (p.Gln306Lys)
c.898C>A (p.Gln300Lys)
n.1100C>A
c.535C>A (p.Gln179Lys)
n.891C>A
17g.30956259C>GCA398978993ADAP2c.901C>G (p.Gln301Glu)
n.321C>G
n.335C>G
c.919C>G (p.Gln307Glu)
c.817C>G (p.Gln273Glu)
c.270C>G
c.193C>G (p.Gln65Glu)
c.*500C>G (n.*500C>G)
c.856C>G (p.Gln286Glu)
c.916C>G (p.Gln306Glu)
c.898C>G (p.Gln300Glu)
n.1100C>G
c.535C>G (p.Gln179Glu)
n.891C>G
gnomAD v4
17g.30956259C>TCA398978994ADAP2c.901C>T (p.Gln301Ter)
n.321C>T
n.335C>T
c.919C>T (p.Gln307Ter)
c.817C>T (p.Gln273Ter)
c.270C>T
c.193C>T (p.Gln65Ter)
c.*500C>T (n.*500C>T)
c.856C>T (p.Gln286Ter)
c.916C>T (p.Gln306Ter)
c.898C>T (p.Gln300Ter)
n.1100C>T
c.535C>T (p.Gln179Ter)
n.891C>T
17g.30956260A>CCA398978995ADAP2c.902A>C (p.Gln301Pro)
n.322A>C
n.336A>C
c.920A>C (p.Gln307Pro)
c.818A>C (p.Gln273Pro)
c.271A>C
c.194A>C (p.Gln65Pro)
c.*501A>C (n.*501A>C)
c.857A>C (p.Gln286Pro)
c.917A>C (p.Gln306Pro)
c.899A>C (p.Gln300Pro)
n.1101A>C
c.536A>C (p.Gln179Pro)
n.892A>C
17g.30956260A>GCA398978997ADAP2c.902A>G (p.Gln301Arg)
n.322A>G
n.336A>G
c.920A>G (p.Gln307Arg)
c.818A>G (p.Gln273Arg)
c.271A>G
c.194A>G (p.Gln65Arg)
c.*501A>G (n.*501A>G)
c.857A>G (p.Gln286Arg)
c.917A>G (p.Gln306Arg)
c.899A>G (p.Gln300Arg)
n.1101A>G
c.536A>G (p.Gln179Arg)
n.892A>G
17g.30956260A>TCA398978996ADAP2c.902A>T (p.Gln301Leu)
n.322A>T
n.336A>T
c.920A>T (p.Gln307Leu)
c.818A>T (p.Gln273Leu)
c.271A>T
c.194A>T (p.Gln65Leu)
c.*501A>T (n.*501A>T)
c.857A>T (p.Gln286Leu)
c.917A>T (p.Gln306Leu)
c.899A>T (p.Gln300Leu)
n.1101A>T
c.536A>T (p.Gln179Leu)
n.892A>T
17g.30956261G>ACA499226082ADAP2c.903G>A (p.Gln301=)
n.323G>A
n.337G>A
c.921G>A (p.Gln307=)
c.819G>A (p.Gln273=)
c.272G>A
c.195G>A (p.Gln65=)
c.*502G>A (n.*502G>A)
c.858G>A (p.Gln286=)
c.918G>A (p.Gln306=)
c.900G>A (p.Gln300=)
n.1102G>A
c.537G>A (p.Gln179=)
n.893G>A
17g.30956261G>CCA398978998ADAP2c.903G>C (p.Gln301His)
n.323G>C
n.337G>C
c.921G>C (p.Gln307His)
c.819G>C (p.Gln273His)
c.272G>C
c.195G>C (p.Gln65His)
c.*502G>C (n.*502G>C)
c.858G>C (p.Gln286His)
c.918G>C (p.Gln306His)
c.900G>C (p.Gln300His)
n.1102G>C
c.537G>C (p.Gln179His)
n.893G>C
17g.30956261G>TCA398978999ADAP2c.903G>T (p.Gln301His)
n.323G>T
n.337G>T
c.921G>T (p.Gln307His)
c.819G>T (p.Gln273His)
c.272G>T
c.195G>T (p.Gln65His)
c.*502G>T (n.*502G>T)
c.858G>T (p.Gln286His)
c.918G>T (p.Gln306His)
c.900G>T (p.Gln300His)
n.1102G>T
c.537G>T (p.Gln179His)
n.893G>T
17g.30956262G>ACA398979000ADAP2c.904G>A (p.Val302Ile)
n.324G>A
n.338G>A
c.922G>A (p.Val308Ile)
c.820G>A (p.Val274Ile)
c.273G>A
c.196G>A (p.Val66Ile)
c.*503G>A (n.*503G>A)
c.859G>A (p.Val287Ile)
c.919G>A (p.Val307Ile)
c.901G>A (p.Val301Ile)
n.1103G>A
c.538G>A (p.Val180Ile)
n.894G>A
17g.30956262G>CCA398979001ADAP2c.904G>C (p.Val302Leu)
n.324G>C
n.338G>C
c.922G>C (p.Val308Leu)
c.820G>C (p.Val274Leu)
c.273G>C
c.196G>C (p.Val66Leu)
c.*503G>C (n.*503G>C)
c.859G>C (p.Val287Leu)
c.919G>C (p.Val307Leu)
c.901G>C (p.Val301Leu)
n.1103G>C
c.538G>C (p.Val180Leu)
n.894G>C
17g.30956262G>TCA398979002ADAP2c.904G>T (p.Val302Phe)
n.324G>T
n.338G>T
c.922G>T (p.Val308Phe)
c.820G>T (p.Val274Phe)
c.273G>T
c.196G>T (p.Val66Phe)
c.*503G>T (n.*503G>T)
c.859G>T (p.Val287Phe)
c.919G>T (p.Val307Phe)
c.901G>T (p.Val301Phe)
n.1103G>T
c.538G>T (p.Val180Phe)
n.894G>T
17g.30956262_30956263delinsGTCA2255437247ADAP2c.904_905delinsGT (p.Val302=)
n.324_325delinsGT
n.338_339delinsGT
c.922_923delinsGT (p.Val308=)
c.820_821delinsGT (p.Val274=)
c.273_274delinsGT
c.196_197delinsGT (p.Val66=)
c.*503_*504delinsGT (n.*503_*504delinsGT)
c.859_860delinsGT (p.Val287=)
c.919_920delinsGT (p.Val307=)
c.901_902delinsGT (p.Val301=)
n.1103_1104delinsGT
c.538_539delinsGT (p.Val180=)
n.894_895delinsGT
17g.30956263T>ACA398979003ADAP2c.905T>A (p.Val302Asp)
n.325T>A
n.339T>A
c.923T>A (p.Val308Asp)
c.821T>A (p.Val274Asp)
c.274T>A
c.197T>A (p.Val66Asp)
c.*504T>A (n.*504T>A)
c.860T>A (p.Val287Asp)
c.920T>A (p.Val307Asp)
c.902T>A (p.Val301Asp)
n.1104T>A
c.539T>A (p.Val180Asp)
n.895T>A
17g.30956263T>CCA398979004ADAP2c.905T>C (p.Val302Ala)
n.325T>C
n.339T>C
c.923T>C (p.Val308Ala)
c.821T>C (p.Val274Ala)
c.274T>C
c.197T>C (p.Val66Ala)
c.*504T>C (n.*504T>C)
c.860T>C (p.Val287Ala)
c.920T>C (p.Val307Ala)
c.902T>C (p.Val301Ala)
n.1104T>C
c.539T>C (p.Val180Ala)
n.895T>C
gnomAD v4
17g.30956263T>GCA8485047ADAP2c.905T>G (p.Val302Gly)
n.325T>G
n.339T>G
c.923T>G (p.Val308Gly)
c.821T>G (p.Val274Gly)
c.274T>G
c.197T>G (p.Val66Gly)
c.*504T>G (n.*504T>G)
c.860T>G (p.Val287Gly)
c.920T>G (p.Val307Gly)
c.902T>G (p.Val301Gly)
n.1104T>G
c.539T>G (p.Val180Gly)
n.895T>G
dbSNP ExAC gnomAD v2
17g.30956263T=CA2255437248ADAP2c.905T= (p.Val302=)
n.325T=
n.339T=
c.923T= (p.Val308=)
c.821T= (p.Val274=)
c.274T=
c.197T= (p.Val66=)
c.*504T= (n.*504T=)
c.860T= (p.Val287=)
c.920T= (p.Val307=)
c.902T= (p.Val301=)
n.1104T=
c.539T= (p.Val180=)
n.895T=
17g.30956267delCA727980498ADAP2c.909del (p.Asn306ThrfsTer?)
n.329del
n.343del
c.927del (p.Asn312ThrfsTer?)
c.825del (p.Asn278ThrfsTer?)
c.278del
c.201del (p.Asn70ThrfsTer?)
c.*508del (n.*508del)
c.864del (p.Asn291ThrfsTer?)
c.924del (p.Asn311ThrfsTer?)
c.906del (p.Asn305ThrfsTer?)
n.1108del
c.543del (p.Asn184ThrfsTer?)
n.899del
dbSNP gnomAD v4
17g.30956264T>ACA499226093ADAP2c.906T>A (p.Val302=)
n.326T>A
n.340T>A
c.924T>A (p.Val308=)
c.822T>A (p.Val274=)
c.275T>A
c.198T>A (p.Val66=)
c.*505T>A (n.*505T>A)
c.861T>A (p.Val287=)
c.921T>A (p.Val307=)
c.903T>A (p.Val301=)
n.1105T>A
c.540T>A (p.Val180=)
n.896T>A
17g.30956264T>CCA499226094ADAP2c.906T>C (p.Val302=)
n.326T>C
n.340T>C
c.924T>C (p.Val308=)
c.822T>C (p.Val274=)
c.275T>C
c.198T>C (p.Val66=)
c.*505T>C (n.*505T>C)
c.861T>C (p.Val287=)
c.921T>C (p.Val307=)
c.903T>C (p.Val301=)
n.1105T>C
c.540T>C (p.Val180=)
n.896T>C
17g.30956264T>GCA499226096ADAP2c.906T>G (p.Val302=)
n.326T>G
n.340T>G
c.924T>G (p.Val308=)
c.822T>G (p.Val274=)
c.275T>G
c.198T>G (p.Val66=)
c.*505T>G (n.*505T>G)
c.861T>G (p.Val287=)
c.921T>G (p.Val307=)
c.903T>G (p.Val301=)
n.1105T>G
c.540T>G (p.Val180=)
n.896T>G
17g.30956265T>ACA398979005ADAP2c.907T>A (p.Phe303Ile)
n.327T>A
n.341T>A
c.925T>A (p.Phe309Ile)
c.823T>A (p.Phe275Ile)
c.276T>A
c.199T>A (p.Phe67Ile)
c.*506T>A (n.*506T>A)
c.862T>A (p.Phe288Ile)
c.922T>A (p.Phe308Ile)
c.904T>A (p.Phe302Ile)
n.1106T>A
c.541T>A (p.Phe181Ile)
n.897T>A
17g.30956265T>CCA398979006ADAP2c.907T>C (p.Phe303Leu)
n.327T>C
n.341T>C
c.925T>C (p.Phe309Leu)
c.823T>C (p.Phe275Leu)
c.276T>C
c.199T>C (p.Phe67Leu)
c.*506T>C (n.*506T>C)
c.862T>C (p.Phe288Leu)
c.922T>C (p.Phe308Leu)
c.904T>C (p.Phe302Leu)
n.1106T>C
c.541T>C (p.Phe181Leu)
n.897T>C
gnomAD v4
17g.30956265T>GCA398979007ADAP2c.907T>G (p.Phe303Val)
n.327T>G
n.341T>G
c.925T>G (p.Phe309Val)
c.823T>G (p.Phe275Val)
c.276T>G
c.199T>G (p.Phe67Val)
c.*506T>G (n.*506T>G)
c.862T>G (p.Phe288Val)
c.922T>G (p.Phe308Val)
c.904T>G (p.Phe302Val)
n.1106T>G
c.541T>G (p.Phe181Val)
n.897T>G
gnomAD v4
17g.30956266T>ACA398979008ADAP2c.908T>A (p.Phe303Tyr)
n.328T>A
n.342T>A
c.926T>A (p.Phe309Tyr)
c.824T>A (p.Phe275Tyr)
c.277T>A
c.200T>A (p.Phe67Tyr)
c.*507T>A (n.*507T>A)
c.863T>A (p.Phe288Tyr)
c.923T>A (p.Phe308Tyr)
c.905T>A (p.Phe302Tyr)
n.1107T>A
c.542T>A (p.Phe181Tyr)
n.898T>A
17g.30956266T>CCA398979009ADAP2c.908T>C (p.Phe303Ser)
n.328T>C
n.342T>C
c.926T>C (p.Phe309Ser)
c.824T>C (p.Phe275Ser)
c.277T>C
c.200T>C (p.Phe67Ser)
c.*507T>C (n.*507T>C)
c.863T>C (p.Phe288Ser)
c.923T>C (p.Phe308Ser)
c.905T>C (p.Phe302Ser)
n.1107T>C
c.542T>C (p.Phe181Ser)
n.898T>C
gnomAD v4
17g.30956266T>GCA398979010ADAP2c.908T>G (p.Phe303Cys)
n.328T>G
n.342T>G
c.926T>G (p.Phe309Cys)
c.824T>G (p.Phe275Cys)
c.277T>G
c.200T>G (p.Phe67Cys)
c.*507T>G (n.*507T>G)
c.863T>G (p.Phe288Cys)
c.923T>G (p.Phe308Cys)
c.905T>G (p.Phe302Cys)
n.1107T>G
c.542T>G (p.Phe181Cys)
n.898T>G
17g.30956267T>ACA398979012ADAP2c.909T>A (p.Phe303Leu)
n.329T>A
n.343T>A
c.927T>A (p.Phe309Leu)
c.825T>A (p.Phe275Leu)
c.278T>A
c.201T>A (p.Phe67Leu)
c.*508T>A (n.*508T>A)
c.864T>A (p.Phe288Leu)
c.924T>A (p.Phe308Leu)
c.906T>A (p.Phe302Leu)
n.1108T>A
c.543T>A (p.Phe181Leu)
n.899T>A
17g.30956267T>CCA499226106ADAP2c.909T>C (p.Phe303=)
n.329T>C
n.343T>C
c.927T>C (p.Phe309=)
c.825T>C (p.Phe275=)
c.278T>C
c.201T>C (p.Phe67=)
c.*508T>C (n.*508T>C)
c.864T>C (p.Phe288=)
c.924T>C (p.Phe308=)
c.906T>C (p.Phe302=)
n.1108T>C
c.543T>C (p.Phe181=)
n.899T>C
dbSNP COSMIC
17g.30956267T>GCA398979011ADAP2c.909T>G (p.Phe303Leu)
n.329T>G
n.343T>G
c.927T>G (p.Phe309Leu)
c.825T>G (p.Phe275Leu)
c.278T>G
c.201T>G (p.Phe67Leu)
c.*508T>G (n.*508T>G)
c.864T>G (p.Phe288Leu)
c.924T>G (p.Phe308Leu)
c.906T>G (p.Phe302Leu)
n.1108T>G
c.543T>G (p.Phe181Leu)
n.899T>G
17g.30956267T=CA2255437249ADAP2c.909T= (p.Phe303=)
n.329T=
n.343T=
c.927T= (p.Phe309=)
c.825T= (p.Phe275=)
c.278T=
c.201T= (p.Phe67=)
c.*508T= (n.*508T=)
c.864T= (p.Phe288=)
c.924T= (p.Phe308=)
c.906T= (p.Phe302=)
n.1108T=
c.543T= (p.Phe181=)
n.899T=
17g.30956268C>ACA398979013ADAP2c.910C>A (p.Leu304Ile)
n.330C>A
n.344C>A
c.928C>A (p.Leu310Ile)
c.826C>A (p.Leu276Ile)
c.279C>A
c.202C>A (p.Leu68Ile)
c.*509C>A (n.*509C>A)
c.865C>A (p.Leu289Ile)
c.925C>A (p.Leu309Ile)
c.907C>A (p.Leu303Ile)
n.1109C>A
c.544C>A (p.Leu182Ile)
n.900C>A
17g.30956268C=CA2255437250ADAP2c.910C= (p.Leu304=)
n.330C=
n.344C=
c.928C= (p.Leu310=)
c.826C= (p.Leu276=)
c.279C=
c.202C= (p.Leu68=)
c.*509C= (n.*509C=)
c.865C= (p.Leu289=)
c.925C= (p.Leu309=)
c.907C= (p.Leu303=)
n.1109C=
c.544C= (p.Leu182=)
n.900C=
17g.30956268C>GCA398979014ADAP2c.910C>G (p.Leu304Val)
n.330C>G
n.344C>G
c.928C>G (p.Leu310Val)
c.826C>G (p.Leu276Val)
c.279C>G
c.202C>G (p.Leu68Val)
c.*509C>G (n.*509C>G)
c.865C>G (p.Leu289Val)
c.925C>G (p.Leu309Val)
c.907C>G (p.Leu303Val)
n.1109C>G
c.544C>G (p.Leu182Val)
n.900C>G
17g.30956268C>TCA398979015ADAP2c.910C>T (p.Leu304Phe)
n.330C>T
n.344C>T
c.928C>T (p.Leu310Phe)
c.826C>T (p.Leu276Phe)
c.279C>T
c.202C>T (p.Leu68Phe)
c.*509C>T (n.*509C>T)
c.865C>T (p.Leu289Phe)
c.925C>T (p.Leu309Phe)
c.907C>T (p.Leu303Phe)
n.1109C>T
c.544C>T (p.Leu182Phe)
n.900C>T
dbSNP COSMIC
17g.30956269T>ACA398979016ADAP2c.911T>A (p.Leu304His)
n.331T>A
n.345T>A
c.929T>A (p.Leu310His)
c.827T>A (p.Leu276His)
c.280T>A
c.203T>A (p.Leu68His)
c.*510T>A (n.*510T>A)
c.866T>A (p.Leu289His)
c.926T>A (p.Leu309His)
c.908T>A (p.Leu303His)
n.1110T>A
c.545T>A (p.Leu182His)
n.901T>A
17g.30956269T>CCA8485048ADAP2c.911T>C (p.Leu304Pro)
n.331T>C
n.345T>C
c.929T>C (p.Leu310Pro)
c.827T>C (p.Leu276Pro)
c.280T>C
c.203T>C (p.Leu68Pro)
c.*510T>C (n.*510T>C)
c.866T>C (p.Leu289Pro)
c.926T>C (p.Leu309Pro)
c.908T>C (p.Leu303Pro)
n.1110T>C
c.545T>C (p.Leu182Pro)
n.901T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.30956269T>GCA398979017ADAP2c.911T>G (p.Leu304Arg)
n.331T>G
n.345T>G
c.929T>G (p.Leu310Arg)
c.827T>G (p.Leu276Arg)
c.280T>G
c.203T>G (p.Leu68Arg)
c.*510T>G (n.*510T>G)
c.866T>G (p.Leu289Arg)
c.926T>G (p.Leu309Arg)
c.908T>G (p.Leu303Arg)
n.1110T>G
c.545T>G (p.Leu182Arg)
n.901T>G
17g.30956269T=CA2255437251ADAP2c.911T= (p.Leu304=)
n.331T=
n.345T=
c.929T= (p.Leu310=)
c.827T= (p.Leu276=)
c.280T=
c.203T= (p.Leu68=)
c.*510T= (n.*510T=)
c.866T= (p.Leu289=)
c.926T= (p.Leu309=)
c.908T= (p.Leu303=)
n.1110T=
c.545T= (p.Leu182=)
n.901T=
17g.30956270T>ACA499226117ADAP2c.912T>A (p.Leu304=)
n.332T>A
n.346T>A
c.930T>A (p.Leu310=)
c.828T>A (p.Leu276=)
c.281T>A
c.204T>A (p.Leu68=)
c.*511T>A (n.*511T>A)
c.867T>A (p.Leu289=)
c.927T>A (p.Leu309=)
c.909T>A (p.Leu303=)
n.1111T>A
c.546T>A (p.Leu182=)
n.902T>A
17g.30956270T>CCA499226119ADAP2c.912T>C (p.Leu304=)
n.332T>C
n.346T>C
c.930T>C (p.Leu310=)
c.828T>C (p.Leu276=)
c.281T>C
c.204T>C (p.Leu68=)
c.*511T>C (n.*511T>C)
c.867T>C (p.Leu289=)
c.927T>C (p.Leu309=)
c.909T>C (p.Leu303=)
n.1111T>C
c.546T>C (p.Leu182=)
n.902T>C
17g.30956270T>GCA499226121ADAP2c.912T>G (p.Leu304=)
n.332T>G
n.346T>G
c.930T>G (p.Leu310=)
c.828T>G (p.Leu276=)
c.281T>G
c.204T>G (p.Leu68=)
c.*511T>G (n.*511T>G)
c.867T>G (p.Leu289=)
c.927T>G (p.Leu309=)
c.909T>G (p.Leu303=)
n.1111T>G
c.546T>G (p.Leu182=)
n.902T>G
17g.30956270_30956271delinsTGCA2255437252ADAP2c.912_913delinsTG (p.Leu304=)
n.332_333delinsTG
n.346_347delinsTG
c.930_931delinsTG (p.Leu310=)
c.828_829delinsTG (p.Leu276=)
c.281_282delinsTG
c.204_205delinsTG (p.Leu68=)
c.*511_*512delinsTG (n.*511_*512delinsTG)
c.867_868delinsTG (p.Leu289=)
c.927_928delinsTG (p.Leu309=)
c.909_910delinsTG (p.Leu303=)
n.1111_1112delinsTG
c.546_547delinsTG (p.Leu182=)
n.902_903delinsTG
17g.30956271G>ACA398979018ADAP2c.913G>A (p.Gly305Arg)
n.333G>A
n.347G>A
c.931G>A (p.Gly311Arg)
c.829G>A (p.Gly277Arg)
c.282G>A
c.205G>A (p.Gly69Arg)
c.*512G>A (n.*512G>A)
c.868G>A (p.Gly290Arg)
c.928G>A (p.Gly310Arg)
c.910G>A (p.Gly304Arg)
n.1112G>A
c.547G>A (p.Gly183Arg)
n.903G>A
17g.30956271G>CCA398979019ADAP2c.913G>C (p.Gly305Arg)
n.333G>C
n.347G>C
c.931G>C (p.Gly311Arg)
c.829G>C (p.Gly277Arg)
c.282G>C
c.205G>C (p.Gly69Arg)
c.*512G>C (n.*512G>C)
c.868G>C (p.Gly290Arg)
c.928G>C (p.Gly310Arg)
c.910G>C (p.Gly304Arg)
n.1112G>C
c.547G>C (p.Gly183Arg)
n.903G>C
17g.30956271G>TCA398979020ADAP2c.913G>T (p.Gly305Trp)
n.333G>T
n.347G>T
c.931G>T (p.Gly311Trp)
c.829G>T (p.Gly277Trp)
c.282G>T
c.205G>T (p.Gly69Trp)
c.*512G>T (n.*512G>T)
c.868G>T (p.Gly290Trp)
c.928G>T (p.Gly310Trp)
c.910G>T (p.Gly304Trp)
n.1112G>T
c.547G>T (p.Gly183Trp)
n.903G>T
17g.30956273delCA919824506ADAP2c.915del (p.Asn306ThrfsTer?)
n.335del
n.349del
c.933del (p.Asn312ThrfsTer?)
c.831del (p.Asn278ThrfsTer?)
c.284del
c.207del (p.Asn70ThrfsTer?)
c.*514del (n.*514del)
c.870del (p.Asn291ThrfsTer?)
c.930del (p.Asn311ThrfsTer?)
c.912del (p.Asn305ThrfsTer?)
n.1114del
c.549del (p.Asn184ThrfsTer?)
n.905del
dbSNP
17g.30956272G>ACA398979021ADAP2c.914G>A (p.Gly305Glu)
n.334G>A
n.348G>A
c.932G>A (p.Gly311Glu)
c.830G>A (p.Gly277Glu)
c.283G>A
c.206G>A (p.Gly69Glu)
c.*513G>A (n.*513G>A)
c.869G>A (p.Gly290Glu)
c.929G>A (p.Gly310Glu)
c.911G>A (p.Gly304Glu)
n.1113G>A
c.548G>A (p.Gly183Glu)
n.904G>A
17g.30956272G>CCA398979022ADAP2c.914G>C (p.Gly305Ala)
n.334G>C
n.348G>C
c.932G>C (p.Gly311Ala)
c.830G>C (p.Gly277Ala)
c.283G>C
c.206G>C (p.Gly69Ala)
c.*513G>C (n.*513G>C)
c.869G>C (p.Gly290Ala)
c.929G>C (p.Gly310Ala)
c.911G>C (p.Gly304Ala)
n.1113G>C
c.548G>C (p.Gly183Ala)
n.904G>C
17g.30956272G>TCA398979023ADAP2c.914G>T (p.Gly305Val)
n.334G>T
n.348G>T
c.932G>T (p.Gly311Val)
c.830G>T (p.Gly277Val)
c.283G>T
c.206G>T (p.Gly69Val)
c.*513G>T (n.*513G>T)
c.869G>T (p.Gly290Val)
c.929G>T (p.Gly310Val)
c.911G>T (p.Gly304Val)
n.1113G>T
c.548G>T (p.Gly183Val)
n.904G>T
17g.30956273G>ACA499226126ADAP2c.915G>A (p.Gly305=)
n.335G>A
n.349G>A
c.933G>A (p.Gly311=)
c.831G>A (p.Gly277=)
c.284G>A
c.207G>A (p.Gly69=)
c.*514G>A (n.*514G>A)
c.870G>A (p.Gly290=)
c.930G>A (p.Gly310=)
c.912G>A (p.Gly304=)
n.1114G>A
c.549G>A (p.Gly183=)
n.905G>A
dbSNP
17g.30956273G>CCA499226130ADAP2c.915G>C (p.Gly305=)
n.335G>C
n.349G>C
c.933G>C (p.Gly311=)
c.831G>C (p.Gly277=)
c.284G>C
c.207G>C (p.Gly69=)
c.*514G>C (n.*514G>C)
c.870G>C (p.Gly290=)
c.930G>C (p.Gly310=)
c.912G>C (p.Gly304=)
n.1114G>C
c.549G>C (p.Gly183=)
n.905G>C
17g.30956273G=CA2255437253ADAP2c.915G= (p.Gly305=)
n.335G=
n.349G=
c.933G= (p.Gly311=)
c.831G= (p.Gly277=)
c.284G=
c.207G= (p.Gly69=)
c.*514G= (n.*514G=)
c.870G= (p.Gly290=)
c.930G= (p.Gly310=)
c.912G= (p.Gly304=)
n.1114G=
c.549G= (p.Gly183=)
n.905G=
17g.30956273G>TCA499226128ADAP2c.915G>T (p.Gly305=)
n.335G>T
n.349G>T
c.933G>T (p.Gly311=)
c.831G>T (p.Gly277=)
c.284G>T
c.207G>T (p.Gly69=)
c.*514G>T (n.*514G>T)
c.870G>T (p.Gly290=)
c.930G>T (p.Gly310=)
c.912G>T (p.Gly304=)
n.1114G>T
c.549G>T (p.Gly183=)
n.905G>T
17g.30956274A>CCA398979026ADAP2c.916A>C (p.Asn306His)
n.336A>C
n.350A>C
c.934A>C (p.Asn312His)
c.832A>C (p.Asn278His)
c.285A>C
c.208A>C (p.Asn70His)
c.*515A>C (n.*515A>C)
c.871A>C (p.Asn291His)
c.931A>C (p.Asn311His)
c.913A>C (p.Asn305His)
n.1115A>C
c.550A>C (p.Asn184His)
n.906A>C
17g.30956274A>GCA398979025ADAP2c.916A>G (p.Asn306Asp)
n.336A>G
n.350A>G
c.934A>G (p.Asn312Asp)
c.832A>G (p.Asn278Asp)
c.285A>G
c.208A>G (p.Asn70Asp)
c.*515A>G (n.*515A>G)
c.871A>G (p.Asn291Asp)
c.931A>G (p.Asn311Asp)
c.913A>G (p.Asn305Asp)
n.1115A>G
c.550A>G (p.Asn184Asp)
n.906A>G
17g.30956274A>TCA398979024ADAP2c.916A>T (p.Asn306Tyr)
n.336A>T
n.350A>T
c.934A>T (p.Asn312Tyr)
c.832A>T (p.Asn278Tyr)
c.285A>T
c.208A>T (p.Asn70Tyr)
c.*515A>T (n.*515A>T)
c.871A>T (p.Asn291Tyr)
c.931A>T (p.Asn311Tyr)
c.913A>T (p.Asn305Tyr)
n.1115A>T
c.550A>T (p.Asn184Tyr)
n.906A>T
17g.30956275A=CA2255437254ADAP2c.917A= (p.Asn306=)
n.337A=
n.351A=
c.935A= (p.Asn312=)
c.833A= (p.Asn278=)
c.286A=
c.209A= (p.Asn70=)
c.*516A= (n.*516A=)
c.872A= (p.Asn291=)
c.932A= (p.Asn311=)
c.914A= (p.Asn305=)
n.1116A=
c.551A= (p.Asn184=)
n.907A=
17g.30956275A>CCA398979027ADAP2c.917A>C (p.Asn306Thr)
n.337A>C
n.351A>C
c.935A>C (p.Asn312Thr)
c.833A>C (p.Asn278Thr)
c.286A>C
c.209A>C (p.Asn70Thr)
c.*516A>C (n.*516A>C)
c.872A>C (p.Asn291Thr)
c.932A>C (p.Asn311Thr)
c.914A>C (p.Asn305Thr)
n.1116A>C
c.551A>C (p.Asn184Thr)
n.907A>C
17g.30956275A>GCA398979028ADAP2c.917A>G (p.Asn306Ser)
n.337A>G
n.351A>G
c.935A>G (p.Asn312Ser)
c.833A>G (p.Asn278Ser)
c.286A>G
c.209A>G (p.Asn70Ser)
c.*516A>G (n.*516A>G)
c.872A>G (p.Asn291Ser)
c.932A>G (p.Asn311Ser)
c.914A>G (p.Asn305Ser)
n.1116A>G
c.551A>G (p.Asn184Ser)
n.907A>G
dbSNP gnomAD v3 gnomAD v4
17g.30956275A>TCA398979029ADAP2c.917A>T (p.Asn306Ile)
n.337A>T
n.351A>T
c.935A>T (p.Asn312Ile)
c.833A>T (p.Asn278Ile)
c.286A>T
c.209A>T (p.Asn70Ile)
c.*516A>T (n.*516A>T)
c.872A>T (p.Asn291Ile)
c.932A>T (p.Asn311Ile)
c.914A>T (p.Asn305Ile)
n.1116A>T
c.551A>T (p.Asn184Ile)
n.907A>T
17g.30956276C>ACA289356354ADAP2c.918C>A (p.Asn306Lys)
n.338C>A
n.352C>A
c.936C>A (p.Asn312Lys)
c.834C>A (p.Asn278Lys)
c.287C>A
c.210C>A (p.Asn70Lys)
c.*517C>A (n.*517C>A)
c.873C>A (p.Asn291Lys)
c.933C>A (p.Asn311Lys)
c.915C>A (p.Asn305Lys)
n.1117C>A
c.552C>A (p.Asn184Lys)
n.908C>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.30956276C=CA2255437255ADAP2c.918C= (p.Asn306=)
n.338C=
n.352C=
c.936C= (p.Asn312=)
c.834C= (p.Asn278=)
c.287C=
c.210C= (p.Asn70=)
c.*517C= (n.*517C=)
c.873C= (p.Asn291=)
c.933C= (p.Asn311=)
c.915C= (p.Asn305=)
n.1117C=
c.552C= (p.Asn184=)
n.908C=
17g.30956276C>GCA398979030ADAP2c.918C>G (p.Asn306Lys)
n.338C>G
n.352C>G
c.936C>G (p.Asn312Lys)
c.834C>G (p.Asn278Lys)
c.287C>G
c.210C>G (p.Asn70Lys)
c.*517C>G (n.*517C>G)
c.873C>G (p.Asn291Lys)
c.933C>G (p.Asn311Lys)
c.915C>G (p.Asn305Lys)
n.1117C>G
c.552C>G (p.Asn184Lys)
n.908C>G
17g.30956276C>TCA499226141ADAP2c.918C>T (p.Asn306=)
n.338C>T
n.352C>T
c.936C>T (p.Asn312=)
c.834C>T (p.Asn278=)
c.287C>T
c.210C>T (p.Asn70=)
c.*517C>T (n.*517C>T)
c.873C>T (p.Asn291=)
c.933C>T (p.Asn311=)
c.915C>T (p.Asn305=)
n.1117C>T
c.552C>T (p.Asn184=)
n.908C>T
17g.30956277A>CCA398979033ADAP2c.919A>C (p.Lys307Gln)
n.339A>C
n.353A>C
c.937A>C (p.Lys313Gln)
c.835A>C (p.Lys279Gln)
c.288A>C
c.211A>C (p.Lys71Gln)
c.*518A>C (n.*518A>C)
c.874A>C (p.Lys292Gln)
c.934A>C (p.Lys312Gln)
c.916A>C (p.Lys306Gln)
n.1118A>C
c.553A>C (p.Lys185Gln)
n.909A>C
17g.30956277A>GCA398979032ADAP2c.919A>G (p.Lys307Glu)
n.339A>G
n.353A>G
c.937A>G (p.Lys313Glu)
c.835A>G (p.Lys279Glu)
c.288A>G
c.211A>G (p.Lys71Glu)
c.*518A>G (n.*518A>G)
c.874A>G (p.Lys292Glu)
c.934A>G (p.Lys312Glu)
c.916A>G (p.Lys306Glu)
n.1118A>G
c.553A>G (p.Lys185Glu)
n.909A>G
17g.30956277A>TCA398979031ADAP2c.919A>T (p.Lys307Ter)
n.339A>T
n.353A>T
c.937A>T (p.Lys313Ter)
c.835A>T (p.Lys279Ter)
c.288A>T
c.211A>T (p.Lys71Ter)
c.*518A>T (n.*518A>T)
c.874A>T (p.Lys292Ter)
c.934A>T (p.Lys312Ter)
c.916A>T (p.Lys306Ter)
n.1118A>T
c.553A>T (p.Lys185Ter)
n.909A>T
17g.30956278A>CCA398979034ADAP2c.920A>C (p.Lys307Thr)
n.340A>C
n.354A>C
c.938A>C (p.Lys313Thr)
c.836A>C (p.Lys279Thr)
c.289A>C
c.212A>C (p.Lys71Thr)
c.*519A>C (n.*519A>C)
c.875A>C (p.Lys292Thr)
c.935A>C (p.Lys312Thr)
c.917A>C (p.Lys306Thr)
n.1119A>C
c.554A>C (p.Lys185Thr)
n.910A>C
17g.30956278A>GCA398979035ADAP2c.920A>G (p.Lys307Arg)
n.340A>G
n.354A>G
c.938A>G (p.Lys313Arg)
c.836A>G (p.Lys279Arg)
c.289A>G
c.212A>G (p.Lys71Arg)
c.*519A>G (n.*519A>G)
c.875A>G (p.Lys292Arg)
c.935A>G (p.Lys312Arg)
c.917A>G (p.Lys306Arg)
n.1119A>G
c.554A>G (p.Lys185Arg)
n.910A>G
17g.30956278A>TCA398979036ADAP2c.920A>T (p.Lys307Met)
n.340A>T
n.354A>T
c.938A>T (p.Lys313Met)
c.836A>T (p.Lys279Met)
c.289A>T
c.212A>T (p.Lys71Met)
c.*519A>T (n.*519A>T)
c.875A>T (p.Lys292Met)
c.935A>T (p.Lys312Met)
c.917A>T (p.Lys306Met)
n.1119A>T
c.554A>T (p.Lys185Met)
n.910A>T
17g.30956279G>ACA8485049ADAP2c.921G>A (p.Lys307=)
n.341G>A
n.355G>A
c.939G>A (p.Lys313=)
c.837G>A (p.Lys279=)
c.290G>A
c.213G>A (p.Lys71=)
c.*520G>A (n.*520G>A)
c.876G>A (p.Lys292=)
c.936G>A (p.Lys312=)
c.918G>A (p.Lys306=)
n.1120G>A
c.555G>A (p.Lys185=)
n.911G>A
dbSNP ExAC gnomAD v2
17g.30956279G>CCA398979037ADAP2c.921G>C (p.Lys307Asn)
n.341G>C
n.355G>C
c.939G>C (p.Lys313Asn)
c.837G>C (p.Lys279Asn)
c.290G>C
c.213G>C (p.Lys71Asn)
c.*520G>C (n.*520G>C)
c.876G>C (p.Lys292Asn)
c.936G>C (p.Lys312Asn)
c.918G>C (p.Lys306Asn)
n.1120G>C
c.555G>C (p.Lys185Asn)
n.911G>C
17g.30956279G=CA2255437256ADAP2c.921G= (p.Lys307=)
n.341G=
n.355G=
c.939G= (p.Lys313=)
c.837G= (p.Lys279=)
c.290G=
c.213G= (p.Lys71=)
c.*520G= (n.*520G=)
c.876G= (p.Lys292=)
c.936G= (p.Lys312=)
c.918G= (p.Lys306=)
n.1120G=
c.555G= (p.Lys185=)
n.911G=
17g.30956279G>TCA398979038ADAP2c.921G>T (p.Lys307Asn)
n.341G>T
n.355G>T
c.939G>T (p.Lys313Asn)
c.837G>T (p.Lys279Asn)
c.290G>T
c.213G>T (p.Lys71Asn)
c.*520G>T (n.*520G>T)
c.876G>T (p.Lys292Asn)
c.936G>T (p.Lys312Asn)
c.918G>T (p.Lys306Asn)
n.1120G>T
c.555G>T (p.Lys185Asn)
n.911G>T
17g.30956280G>ACA398979039ADAP2c.922G>A (p.Glu308Lys)
n.342G>A
n.356G>A
c.940G>A (p.Glu314Lys)
c.838G>A (p.Glu280Lys)
c.291G>A
c.214G>A (p.Glu72Lys)
c.*521G>A (n.*521G>A)
c.877G>A (p.Glu293Lys)
c.937G>A (p.Glu313Lys)
c.919G>A (p.Glu307Lys)
n.1121G>A
c.556G>A (p.Glu186Lys)
n.912G>A
17g.30956280G>CCA398979041ADAP2c.922G>C (p.Glu308Gln)
n.342G>C
n.356G>C
c.940G>C (p.Glu314Gln)
c.838G>C (p.Glu280Gln)
c.291G>C
c.214G>C (p.Glu72Gln)
c.*521G>C (n.*521G>C)
c.877G>C (p.Glu293Gln)
c.937G>C (p.Glu313Gln)
c.919G>C (p.Glu307Gln)
n.1121G>C
c.556G>C (p.Glu186Gln)
n.912G>C
17g.30956280G>TCA398979040ADAP2c.922G>T (p.Glu308Ter)
n.342G>T
n.356G>T
c.940G>T (p.Glu314Ter)
c.838G>T (p.Glu280Ter)
c.291G>T
c.214G>T (p.Glu72Ter)
c.*521G>T (n.*521G>T)
c.877G>T (p.Glu293Ter)
c.937G>T (p.Glu313Ter)
c.919G>T (p.Glu307Ter)
n.1121G>T
c.556G>T (p.Glu186Ter)
n.912G>T
COSMIC
17g.30956281A>CCA398979042ADAP2c.923A>C (p.Glu308Ala)
n.343A>C
n.357A>C
c.941A>C (p.Glu314Ala)
c.839A>C (p.Glu280Ala)
c.292A>C
c.215A>C (p.Glu72Ala)
c.*522A>C (n.*522A>C)
c.878A>C (p.Glu293Ala)
c.938A>C (p.Glu313Ala)
c.920A>C (p.Glu307Ala)
n.1122A>C
c.557A>C (p.Glu186Ala)
n.913A>C
17g.30956281A>GCA398979043ADAP2c.923A>G (p.Glu308Gly)
n.343A>G
n.357A>G
c.941A>G (p.Glu314Gly)
c.839A>G (p.Glu280Gly)
c.292A>G
c.215A>G (p.Glu72Gly)
c.*522A>G (n.*522A>G)
c.878A>G (p.Glu293Gly)
c.938A>G (p.Glu313Gly)
c.920A>G (p.Glu307Gly)
n.1122A>G
c.557A>G (p.Glu186Gly)
n.913A>G
17g.30956281A>TCA398979044ADAP2c.923A>T (p.Glu308Val)
n.343A>T
n.357A>T
c.941A>T (p.Glu314Val)
c.839A>T (p.Glu280Val)
c.292A>T
c.215A>T (p.Glu72Val)
c.*522A>T (n.*522A>T)
c.878A>T (p.Glu293Val)
c.938A>T (p.Glu313Val)
c.920A>T (p.Glu307Val)
n.1122A>T
c.557A>T (p.Glu186Val)
n.913A>T
17g.30956282G>ACA499226165ADAP2c.924G>A (p.Glu308=)
n.344G>A
n.358G>A
c.942G>A (p.Glu314=)
c.840G>A (p.Glu280=)
c.293G>A
c.216G>A (p.Glu72=)
c.*523G>A (n.*523G>A)
c.879G>A (p.Glu293=)
c.939G>A (p.Glu313=)
c.921G>A (p.Glu307=)
n.1123G>A
c.558G>A (p.Glu186=)
n.914G>A
gnomAD v4
17g.30956282G>CCA398979045ADAP2c.924G>C (p.Glu308Asp)
n.344G>C
n.358G>C
c.942G>C (p.Glu314Asp)
c.840G>C (p.Glu280Asp)
c.293G>C
c.216G>C (p.Glu72Asp)
c.*523G>C (n.*523G>C)
c.879G>C (p.Glu293Asp)
c.939G>C (p.Glu313Asp)
c.921G>C (p.Glu307Asp)
n.1123G>C
c.558G>C (p.Glu186Asp)
n.914G>C
17g.30956282G=CA2255437257ADAP2c.924G= (p.Glu308=)
n.344G=
n.358G=
c.942G= (p.Glu314=)
c.840G= (p.Glu280=)
c.293G=
c.216G= (p.Glu72=)
c.*523G= (n.*523G=)
c.879G= (p.Glu293=)
c.939G= (p.Glu313=)
c.921G= (p.Glu307=)
n.1123G=
c.558G= (p.Glu186=)
n.914G=
17g.30956282G>TCA8485050ADAP2c.924G>T (p.Glu308Asp)
n.344G>T
n.358G>T
c.942G>T (p.Glu314Asp)
c.840G>T (p.Glu280Asp)
c.293G>T
c.216G>T (p.Glu72Asp)
c.*523G>T (n.*523G>T)
c.879G>T (p.Glu293Asp)
c.939G>T (p.Glu313Asp)
c.921G>T (p.Glu307Asp)
n.1123G>T
c.558G>T (p.Glu186Asp)
n.914G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.30956283C>ACA398979046ADAP2c.925C>A (p.Gln309Lys)
n.345C>A
n.359C>A
c.943C>A (p.Gln315Lys)
c.841C>A (p.Gln281Lys)
c.294C>A
c.217C>A (p.Gln73Lys)
c.*524C>A (n.*524C>A)
c.880C>A (p.Gln294Lys)
c.940C>A (p.Gln314Lys)
c.922C>A (p.Gln308Lys)
n.1124C>A
c.559C>A (p.Gln187Lys)
n.915C>A
17g.30956283C>GCA398979047ADAP2c.925C>G (p.Gln309Glu)
n.345C>G
n.359C>G
c.943C>G (p.Gln315Glu)
c.841C>G (p.Gln281Glu)
c.294C>G
c.217C>G (p.Gln73Glu)
c.*524C>G (n.*524C>G)
c.880C>G (p.Gln294Glu)
c.940C>G (p.Gln314Glu)
c.922C>G (p.Gln308Glu)
n.1124C>G
c.559C>G (p.Gln187Glu)
n.915C>G
17g.30956283C>TCA398979048ADAP2c.925C>T (p.Gln309Ter)
n.345C>T
n.359C>T
c.943C>T (p.Gln315Ter)
c.841C>T (p.Gln281Ter)
c.294C>T
c.217C>T (p.Gln73Ter)
c.*524C>T (n.*524C>T)
c.880C>T (p.Gln294Ter)
c.940C>T (p.Gln314Ter)
c.922C>T (p.Gln308Ter)
n.1124C>T
c.559C>T (p.Gln187Ter)
n.915C>T
gnomAD v4
17g.30956284A>CCA398979049ADAP2c.926A>C (p.Gln309Pro)
n.346A>C
n.360A>C
c.944A>C (p.Gln315Pro)
c.842A>C (p.Gln281Pro)
c.295A>C
c.218A>C (p.Gln73Pro)
c.*525A>C (n.*525A>C)
c.881A>C (p.Gln294Pro)
c.941A>C (p.Gln314Pro)
c.923A>C (p.Gln308Pro)
n.1125A>C
c.560A>C (p.Gln187Pro)
n.916A>C
17g.30956284A>GCA398979050ADAP2c.926A>G (p.Gln309Arg)
n.346A>G
n.360A>G
c.944A>G (p.Gln315Arg)
c.842A>G (p.Gln281Arg)
c.295A>G
c.218A>G (p.Gln73Arg)
c.*525A>G (n.*525A>G)
c.881A>G (p.Gln294Arg)
c.941A>G (p.Gln314Arg)
c.923A>G (p.Gln308Arg)
n.1125A>G
c.560A>G (p.Gln187Arg)
n.916A>G
gnomAD v4
17g.30956284A>TCA398979051ADAP2c.926A>T (p.Gln309Leu)
n.346A>T
n.360A>T
c.944A>T (p.Gln315Leu)
c.842A>T (p.Gln281Leu)
c.295A>T
c.218A>T (p.Gln73Leu)
c.*525A>T (n.*525A>T)
c.881A>T (p.Gln294Leu)
c.941A>T (p.Gln314Leu)
c.923A>T (p.Gln308Leu)
n.1125A>T
c.560A>T (p.Gln187Leu)
n.916A>T
17g.30956285G>ACA499226177ADAP2c.927G>A (p.Gln309=)
n.347G>A
n.361G>A
c.945G>A (p.Gln315=)
c.843G>A (p.Gln281=)
c.296G>A
c.219G>A (p.Gln73=)
c.*526G>A (n.*526G>A)
c.882G>A (p.Gln294=)
c.942G>A (p.Gln314=)
c.924G>A (p.Gln308=)
n.1126G>A
c.561G>A (p.Gln187=)
n.917G>A
17g.30956285G>CCA398979052ADAP2c.927G>C (p.Gln309His)
n.347G>C
n.361G>C
c.945G>C (p.Gln315His)
c.843G>C (p.Gln281His)
c.296G>C
c.219G>C (p.Gln73His)
c.*526G>C (n.*526G>C)
c.882G>C (p.Gln294His)
c.942G>C (p.Gln314His)
c.924G>C (p.Gln308His)
n.1126G>C
c.561G>C (p.Gln187His)
n.917G>C
17g.30956285G>TCA398979053ADAP2c.927G>T (p.Gln309His)
n.347G>T
n.361G>T
c.945G>T (p.Gln315His)
c.843G>T (p.Gln281His)
c.296G>T
c.219G>T (p.Gln73His)
c.*526G>T (n.*526G>T)
c.882G>T (p.Gln294His)
c.942G>T (p.Gln314His)
c.924G>T (p.Gln308His)
n.1126G>T
c.561G>T (p.Gln187His)
n.917G>T
17g.30956286G>ACA398979054ADAP2c.928G>A (p.Gly310Arg)
n.348G>A
n.362G>A
c.946G>A (p.Gly316Arg)
c.844G>A (p.Gly282Arg)
c.297G>A
c.220G>A (p.Gly74Arg)
c.*527G>A (n.*527G>A)
c.883G>A (p.Gly295Arg)
c.943G>A (p.Gly315Arg)
c.925G>A (p.Gly309Arg)
n.1127G>A
c.562G>A (p.Gly188Arg)
n.918G>A
17g.30956286G>CCA398979056ADAP2c.928G>C (p.Gly310Arg)
n.348G>C
n.362G>C
c.946G>C (p.Gly316Arg)
c.844G>C (p.Gly282Arg)
c.297G>C
c.220G>C (p.Gly74Arg)
c.*527G>C (n.*527G>C)
c.883G>C (p.Gly295Arg)
c.943G>C (p.Gly315Arg)
c.925G>C (p.Gly309Arg)
n.1127G>C
c.562G>C (p.Gly188Arg)
n.918G>C
17g.30956286G>TCA398979055ADAP2c.928G>T (p.Gly310Ter)
n.348G>T
n.362G>T
c.946G>T (p.Gly316Ter)
c.844G>T (p.Gly282Ter)
c.297G>T
c.220G>T (p.Gly74Ter)
c.*527G>T (n.*527G>T)
c.883G>T (p.Gly295Ter)
c.943G>T (p.Gly315Ter)
c.925G>T (p.Gly309Ter)
n.1127G>T
c.562G>T (p.Gly188Ter)
n.918G>T
17g.30956287G>ACA398979057ADAP2c.929G>A (p.Gly310Glu)
n.349G>A
n.363G>A
c.947G>A (p.Gly316Glu)
c.845G>A (p.Gly282Glu)
c.298G>A
c.221G>A (p.Gly74Glu)
c.*528G>A (n.*528G>A)
c.884G>A (p.Gly295Glu)
c.944G>A (p.Gly315Glu)
c.926G>A (p.Gly309Glu)
n.1128G>A
c.563G>A (p.Gly188Glu)
n.919G>A
17g.30956287G>CCA398979058ADAP2c.929G>C (p.Gly310Ala)
n.349G>C
n.363G>C
c.947G>C (p.Gly316Ala)
c.845G>C (p.Gly282Ala)
c.298G>C
c.221G>C (p.Gly74Ala)
c.*528G>C (n.*528G>C)
c.884G>C (p.Gly295Ala)
c.944G>C (p.Gly315Ala)
c.926G>C (p.Gly309Ala)
n.1128G>C
c.563G>C (p.Gly188Ala)
n.919G>C
gnomAD v4
17g.30956287G>TCA398979059ADAP2c.929G>T (p.Gly310Val)
n.349G>T
n.363G>T
c.947G>T (p.Gly316Val)
c.845G>T (p.Gly282Val)
c.298G>T
c.221G>T (p.Gly74Val)
c.*528G>T (n.*528G>T)
c.884G>T (p.Gly295Val)
c.944G>T (p.Gly315Val)
c.926G>T (p.Gly309Val)
n.1128G>T
c.563G>T (p.Gly188Val)
n.919G>T
ClinVar
17g.30956288A>CCA499226188ADAP2c.930A>C (p.Gly310=)
n.350A>C
n.364A>C
c.948A>C (p.Gly316=)
c.846A>C (p.Gly282=)
c.299A>C
c.222A>C (p.Gly74=)
c.*529A>C (n.*529A>C)
c.885A>C (p.Gly295=)
c.945A>C (p.Gly315=)
c.927A>C (p.Gly309=)
n.1129A>C
c.564A>C (p.Gly188=)
n.920A>C
17g.30956288A>GCA499226189ADAP2c.930A>G (p.Gly310=)
n.350A>G
n.364A>G
c.948A>G (p.Gly316=)
c.846A>G (p.Gly282=)
c.299A>G
c.222A>G (p.Gly74=)
c.*529A>G (n.*529A>G)
c.885A>G (p.Gly295=)
c.945A>G (p.Gly315=)
c.927A>G (p.Gly309=)
n.1129A>G
c.564A>G (p.Gly188=)
n.920A>G
17g.30956288A>TCA499226191ADAP2c.930A>T (p.Gly310=)
n.350A>T
n.364A>T
c.948A>T (p.Gly316=)
c.846A>T (p.Gly282=)
c.299A>T
c.222A>T (p.Gly74=)
c.*529A>T (n.*529A>T)
c.885A>T (p.Gly295=)
c.945A>T (p.Gly315=)
c.927A>T (p.Gly309=)
n.1129A>T
c.564A>T (p.Gly188=)
n.920A>T
17g.30956290_30956291delCA2637061587ADAP2c.932_933del (p.Tyr311Ter)
n.352_353del
n.366_367del
c.950_951del (p.Tyr317Ter)
c.848_849del (p.Tyr283Ter)
c.301_302del
c.224_225del (p.Tyr75Ter)
c.*531_*532del (n.*531_*532del)
c.887_888del (p.Tyr296Ter)
c.947_948del (p.Tyr316Ter)
c.929_930del (p.Tyr310Ter)
n.1131_1132del
c.566_567del (p.Tyr189Ter)
n.922_923del
gnomAD v4
17g.30956289T>ACA398979060ADAP2c.931T>A (p.Tyr311Asn)
n.351T>A
n.365T>A
c.949T>A (p.Tyr317Asn)
c.847T>A (p.Tyr283Asn)
c.300T>A
c.223T>A (p.Tyr75Asn)
c.*530T>A (n.*530T>A)
c.886T>A (p.Tyr296Asn)
c.946T>A (p.Tyr316Asn)
c.928T>A (p.Tyr310Asn)
n.1130T>A
c.565T>A (p.Tyr189Asn)
n.921T>A
17g.30956289T>CCA398979061ADAP2c.931T>C (p.Tyr311His)
n.351T>C
n.365T>C
c.949T>C (p.Tyr317His)
c.847T>C (p.Tyr283His)
c.300T>C
c.223T>C (p.Tyr75His)
c.*530T>C (n.*530T>C)
c.886T>C (p.Tyr296His)
c.946T>C (p.Tyr316His)
c.928T>C (p.Tyr310His)
n.1130T>C
c.565T>C (p.Tyr189His)
n.921T>C
17g.30956289T>GCA398979062ADAP2c.931T>G (p.Tyr311Asp)
n.351T>G
n.365T>G
c.949T>G (p.Tyr317Asp)
c.847T>G (p.Tyr283Asp)
c.300T>G
c.223T>G (p.Tyr75Asp)
c.*530T>G (n.*530T>G)
c.886T>G (p.Tyr296Asp)
c.946T>G (p.Tyr316Asp)
c.928T>G (p.Tyr310Asp)
n.1130T>G
c.565T>G (p.Tyr189Asp)
n.921T>G
17g.30956290A>CCA398979063ADAP2c.932A>C (p.Tyr311Ser)
n.352A>C
n.366A>C
c.950A>C (p.Tyr317Ser)
c.848A>C (p.Tyr283Ser)
c.301A>C
c.224A>C (p.Tyr75Ser)
c.*531A>C (n.*531A>C)
c.887A>C (p.Tyr296Ser)
c.947A>C (p.Tyr316Ser)
c.929A>C (p.Tyr310Ser)
n.1131A>C
c.566A>C (p.Tyr189Ser)
n.922A>C
17g.30956290A>GCA398979064ADAP2c.932A>G (p.Tyr311Cys)
n.352A>G
n.366A>G
c.950A>G (p.Tyr317Cys)
c.848A>G (p.Tyr283Cys)
c.301A>G
c.224A>G (p.Tyr75Cys)
c.*531A>G (n.*531A>G)
c.887A>G (p.Tyr296Cys)
c.947A>G (p.Tyr316Cys)
c.929A>G (p.Tyr310Cys)
n.1131A>G
c.566A>G (p.Tyr189Cys)
n.922A>G
gnomAD v4
17g.30956290A>TCA398979065ADAP2c.932A>T (p.Tyr311Phe)
n.352A>T
n.366A>T
c.950A>T (p.Tyr317Phe)
c.848A>T (p.Tyr283Phe)
c.301A>T
c.224A>T (p.Tyr75Phe)
c.*531A>T (n.*531A>T)
c.887A>T (p.Tyr296Phe)
c.947A>T (p.Tyr316Phe)
c.929A>T (p.Tyr310Phe)
n.1131A>T
c.566A>T (p.Tyr189Phe)
n.922A>T
17g.30956291T>ACA398979066ADAP2c.933T>A (p.Tyr311Ter)
n.353T>A
n.367T>A
c.951T>A (p.Tyr317Ter)
c.849T>A (p.Tyr283Ter)
c.302T>A
c.225T>A (p.Tyr75Ter)
c.*532T>A (n.*532T>A)
c.888T>A (p.Tyr296Ter)
c.948T>A (p.Tyr316Ter)
c.930T>A (p.Tyr310Ter)
n.1132T>A
c.567T>A (p.Tyr189Ter)
n.923T>A
17g.30956291T>CCA499226204ADAP2c.933T>C (p.Tyr311=)
n.353T>C
n.367T>C
c.951T>C (p.Tyr317=)
c.849T>C (p.Tyr283=)
c.302T>C
c.225T>C (p.Tyr75=)
c.*532T>C (n.*532T>C)
c.888T>C (p.Tyr296=)
c.948T>C (p.Tyr316=)
c.930T>C (p.Tyr310=)
n.1132T>C
c.567T>C (p.Tyr189=)
n.923T>C
17g.30956291T>GCA398979067ADAP2c.933T>G (p.Tyr311Ter)
n.353T>G
n.367T>G
c.951T>G (p.Tyr317Ter)
c.849T>G (p.Tyr283Ter)
c.302T>G
c.225T>G (p.Tyr75Ter)
c.*532T>G (n.*532T>G)
c.888T>G (p.Tyr296Ter)
c.948T>G (p.Tyr316Ter)
c.930T>G (p.Tyr310Ter)
n.1132T>G
c.567T>G (p.Tyr189Ter)
n.923T>G
dbSNP
17g.30956291T=CA2255437258ADAP2c.933T= (p.Tyr311=)
n.353T=
n.367T=
c.951T= (p.Tyr317=)
c.849T= (p.Tyr283=)
c.302T=
c.225T= (p.Tyr75=)
c.*532T= (n.*532T=)
c.888T= (p.Tyr296=)
c.948T= (p.Tyr316=)
c.930T= (p.Tyr310=)
n.1132T=
c.567T= (p.Tyr189=)
n.923T=
17g.30956292G>ACA398979070ADAP2c.934G>A (p.Glu312Lys)
n.354G>A
n.368G>A
c.952G>A (p.Glu318Lys)
c.850G>A (p.Glu284Lys)
c.303G>A
c.226G>A (p.Glu76Lys)
c.*533G>A (n.*533G>A)
c.889G>A (p.Glu297Lys)
c.949G>A (p.Glu317Lys)
c.931G>A (p.Glu311Lys)
n.1133G>A
c.568G>A (p.Glu190Lys)
n.924G>A
dbSNP gnomAD v2
17g.30956292G>CCA398979069ADAP2c.934G>C (p.Glu312Gln)
n.354G>C
n.368G>C
c.952G>C (p.Glu318Gln)
c.850G>C (p.Glu284Gln)
c.303G>C
c.226G>C (p.Glu76Gln)
c.*533G>C (n.*533G>C)
c.889G>C (p.Glu297Gln)
c.949G>C (p.Glu317Gln)
c.931G>C (p.Glu311Gln)
n.1133G>C
c.568G>C (p.Glu190Gln)
n.924G>C
17g.30956292G=CA2255437259ADAP2c.934G= (p.Glu312=)
n.354G=
n.368G=
c.952G= (p.Glu318=)
c.850G= (p.Glu284=)
c.303G=
c.226G= (p.Glu76=)
c.*533G= (n.*533G=)
c.889G= (p.Glu297=)
c.949G= (p.Glu317=)
c.931G= (p.Glu311=)
n.1133G=
c.568G= (p.Glu190=)
n.924G=
17g.30956292G>TCA398979068ADAP2c.934G>T (p.Glu312Ter)
n.354G>T
n.368G>T
c.952G>T (p.Glu318Ter)
c.850G>T (p.Glu284Ter)
c.303G>T
c.226G>T (p.Glu76Ter)
c.*533G>T (n.*533G>T)
c.889G>T (p.Glu297Ter)
c.949G>T (p.Glu317Ter)
c.931G>T (p.Glu311Ter)
n.1133G>T
c.568G>T (p.Glu190Ter)
n.924G>T
17g.30956293A>CCA398979071ADAP2c.935A>C (p.Glu312Ala)
n.355A>C
n.369A>C
c.953A>C (p.Glu318Ala)
c.851A>C (p.Glu284Ala)
c.304A>C
c.227A>C (p.Glu76Ala)
c.*534A>C (n.*534A>C)
c.890A>C (p.Glu297Ala)
c.950A>C (p.Glu317Ala)
c.932A>C (p.Glu311Ala)
n.1134A>C
c.569A>C (p.Glu190Ala)
n.925A>C
17g.30956293A>GCA398979072ADAP2c.935A>G (p.Glu312Gly)
n.355A>G
n.369A>G
c.953A>G (p.Glu318Gly)
c.851A>G (p.Glu284Gly)
c.304A>G
c.227A>G (p.Glu76Gly)
c.*534A>G (n.*534A>G)
c.890A>G (p.Glu297Gly)
c.950A>G (p.Glu317Gly)
c.932A>G (p.Glu311Gly)
n.1134A>G
c.569A>G (p.Glu190Gly)
n.925A>G
17g.30956293A>TCA398979073ADAP2c.935A>T (p.Glu312Val)
n.355A>T
n.369A>T
c.953A>T (p.Glu318Val)
c.851A>T (p.Glu284Val)
c.304A>T
c.227A>T (p.Glu76Val)
c.*534A>T (n.*534A>T)
c.890A>T (p.Glu297Val)
c.950A>T (p.Glu317Val)
c.932A>T (p.Glu311Val)
n.1134A>T
c.569A>T (p.Glu190Val)
n.925A>T
17g.30956294A=CA2255437260ADAP2c.936A= (p.Glu312=)
n.356A=
n.370A=
c.954A= (p.Glu318=)
c.852A= (p.Glu284=)
c.305A=
c.228A= (p.Glu76=)
c.*535A= (n.*535A=)
c.891A= (p.Glu297=)
c.951A= (p.Glu317=)
c.933A= (p.Glu311=)
n.1135A=
c.570A= (p.Glu190=)
n.926A=
17g.30956294A>CCA398979074ADAP2c.936A>C (p.Glu312Asp)
n.356A>C
n.370A>C
c.954A>C (p.Glu318Asp)
c.852A>C (p.Glu284Asp)
c.305A>C
c.228A>C (p.Glu76Asp)
c.*535A>C (n.*535A>C)
c.891A>C (p.Glu297Asp)
c.951A>C (p.Glu317Asp)
c.933A>C (p.Glu311Asp)
n.1135A>C
c.570A>C (p.Glu190Asp)
n.926A>C
17g.30956294A>GCA499226215ADAP2c.936A>G (p.Glu312=)
n.356A>G
n.370A>G
c.954A>G (p.Glu318=)
c.852A>G (p.Glu284=)
c.305A>G
c.228A>G (p.Glu76=)
c.*535A>G (n.*535A>G)
c.891A>G (p.Glu297=)
c.951A>G (p.Glu317=)
c.933A>G (p.Glu311=)
n.1135A>G
c.570A>G (p.Glu190=)
n.926A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.30956294A>TCA398979075ADAP2c.936A>T (p.Glu312Asp)
n.356A>T
n.370A>T
c.954A>T (p.Glu318Asp)
c.852A>T (p.Glu284Asp)
c.305A>T
c.228A>T (p.Glu76Asp)
c.*535A>T (n.*535A>T)
c.891A>T (p.Glu297Asp)
c.951A>T (p.Glu317Asp)
c.933A>T (p.Glu311Asp)
n.1135A>T
c.570A>T (p.Glu190Asp)
n.926A>T
17g.30956295G>ACA398979076ADAP2c.937G>A (p.Ala313Thr)
n.357G>A
n.371G>A
c.955G>A (p.Ala319Thr)
c.853G>A (p.Ala285Thr)
c.306G>A
c.229G>A (p.Ala77Thr)
c.*536G>A (n.*536G>A)
c.892G>A (p.Ala298Thr)
c.952G>A (p.Ala318Thr)
c.934G>A (p.Ala312Thr)
n.1136G>A
c.571G>A (p.Ala191Thr)
n.927G>A
17g.30956295G>CCA398979077ADAP2c.937G>C (p.Ala313Pro)
n.357G>C
n.371G>C
c.955G>C (p.Ala319Pro)
c.853G>C (p.Ala285Pro)
c.306G>C
c.229G>C (p.Ala77Pro)
c.*536G>C (n.*536G>C)
c.892G>C (p.Ala298Pro)
c.952G>C (p.Ala318Pro)
c.934G>C (p.Ala312Pro)
n.1136G>C
c.571G>C (p.Ala191Pro)
n.927G>C
17g.30956295G>TCA398979078ADAP2c.937G>T (p.Ala313Ser)
n.357G>T
n.371G>T
c.955G>T (p.Ala319Ser)
c.853G>T (p.Ala285Ser)
c.306G>T
c.229G>T (p.Ala77Ser)
c.*536G>T (n.*536G>T)
c.892G>T (p.Ala298Ser)
c.952G>T (p.Ala318Ser)
c.934G>T (p.Ala312Ser)
n.1136G>T
c.571G>T (p.Ala191Ser)
n.927G>T
17g.30956296C>ACA398979079ADAP2c.938C>A (p.Ala313Asp)
n.358C>A
n.372C>A
c.956C>A (p.Ala319Asp)
c.854C>A (p.Ala285Asp)
c.307C>A
c.230C>A (p.Ala77Asp)
c.*537C>A (n.*537C>A)
c.893C>A (p.Ala298Asp)
c.953C>A (p.Ala318Asp)
c.935C>A (p.Ala312Asp)
n.1137C>A
c.572C>A (p.Ala191Asp)
n.928C>A
17g.30956296C>GCA398979080ADAP2c.938C>G (p.Ala313Gly)
n.358C>G
n.372C>G
c.956C>G (p.Ala319Gly)
c.854C>G (p.Ala285Gly)
c.307C>G
c.230C>G (p.Ala77Gly)
c.*537C>G (n.*537C>G)
c.893C>G (p.Ala298Gly)
c.953C>G (p.Ala318Gly)
c.935C>G (p.Ala312Gly)
n.1137C>G
c.572C>G (p.Ala191Gly)
n.928C>G
17g.30956296C>TCA398979081ADAP2c.938C>T (p.Ala313Val)
n.358C>T
n.372C>T
c.956C>T (p.Ala319Val)
c.854C>T (p.Ala285Val)
c.307C>T
c.230C>T (p.Ala77Val)
c.*537C>T (n.*537C>T)
c.893C>T (p.Ala298Val)
c.953C>T (p.Ala318Val)
c.935C>T (p.Ala312Val)
n.1137C>T
c.572C>T (p.Ala191Val)
n.928C>T
17g.30956297dupCA2592576096ADAP2c.939dup (p.Tyr314LeufsTer?)
n.359dup
n.373dup
c.957dup (p.Tyr320LeufsTer?)
c.855dup (p.Tyr286LeufsTer?)
c.308dup
c.231dup (p.Tyr78LeufsTer?)
c.*538dup (n.*538dup)
c.894dup (p.Tyr299LeufsTer?)
c.954dup (p.Tyr319LeufsTer?)
c.936dup (p.Tyr313LeufsTer?)
n.1138dup
c.573dup (p.Tyr192LeufsTer?)
n.929dup
gnomAD v3 gnomAD v4
17g.30956297C>ACA499226228ADAP2c.939C>A (p.Ala313=)
n.359C>A
n.373C>A
c.957C>A (p.Ala319=)
c.855C>A (p.Ala285=)
c.308C>A
c.231C>A (p.Ala77=)
c.*538C>A (n.*538C>A)
c.894C>A (p.Ala298=)
c.954C>A (p.Ala318=)
c.936C>A (p.Ala312=)
n.1138C>A
c.573C>A (p.Ala191=)
n.929C>A
17g.30956297C=CA2255437261ADAP2c.939C= (p.Ala313=)
n.359C=
n.373C=
c.957C= (p.Ala319=)
c.855C= (p.Ala285=)
c.308C=
c.231C= (p.Ala77=)
c.*538C= (n.*538C=)
c.894C= (p.Ala298=)
c.954C= (p.Ala318=)
c.936C= (p.Ala312=)
n.1138C=
c.573C= (p.Ala191=)
n.929C=
17g.30956297C>GCA499226230ADAP2c.939C>G (p.Ala313=)
n.359C>G
n.373C>G
c.957C>G (p.Ala319=)
c.855C>G (p.Ala285=)
c.308C>G
c.231C>G (p.Ala77=)
c.*538C>G (n.*538C>G)
c.894C>G (p.Ala298=)
c.954C>G (p.Ala318=)
c.936C>G (p.Ala312=)
n.1138C>G
c.573C>G (p.Ala191=)
n.929C>G
17g.30956297C>TCA8485051ADAP2c.939C>T (p.Ala313=)
n.359C>T
n.373C>T
c.957C>T (p.Ala319=)
c.855C>T (p.Ala285=)
c.308C>T
c.231C>T (p.Ala77=)
c.*538C>T (n.*538C>T)
c.894C>T (p.Ala298=)
c.954C>T (p.Ala318=)
c.936C>T (p.Ala312=)
n.1138C>T
c.573C>T (p.Ala191=)
n.929C>T
dbSNP ExAC gnomAD v2 gnomAD v4
17g.30956298T>ACA398979083ADAP2c.940T>A (p.Tyr314Asn)
n.360T>A
n.374T>A
c.958T>A (p.Tyr320Asn)
c.856T>A (p.Tyr286Asn)
c.309T>A
c.232T>A (p.Tyr78Asn)
c.*539T>A (n.*539T>A)
c.895T>A (p.Tyr299Asn)
c.955T>A (p.Tyr319Asn)
c.937T>A (p.Tyr313Asn)
n.1139T>A
c.574T>A (p.Tyr192Asn)
n.930T>A
17g.30956298T>CCA289356368ADAP2c.940T>C (p.Tyr314His)
n.360T>C
n.374T>C
c.958T>C (p.Tyr320His)
c.856T>C (p.Tyr286His)
c.309T>C
c.232T>C (p.Tyr78His)
c.*539T>C (n.*539T>C)
c.895T>C (p.Tyr299His)
c.955T>C (p.Tyr319His)
c.937T>C (p.Tyr313His)
n.1139T>C
c.574T>C (p.Tyr192His)
n.930T>C
dbSNP gnomAD v3 gnomAD v4
17g.30956298T>GCA398979082ADAP2c.940T>G (p.Tyr314Asp)
n.360T>G
n.374T>G
c.958T>G (p.Tyr320Asp)
c.856T>G (p.Tyr286Asp)
c.309T>G
c.232T>G (p.Tyr78Asp)
c.*539T>G (n.*539T>G)
c.895T>G (p.Tyr299Asp)
c.955T>G (p.Tyr319Asp)
c.937T>G (p.Tyr313Asp)
n.1139T>G
c.574T>G (p.Tyr192Asp)
n.930T>G
17g.30956298T=CA2255437262ADAP2c.940T= (p.Tyr314=)
n.360T=
n.374T=
c.958T= (p.Tyr320=)
c.856T= (p.Tyr286=)
c.309T=
c.232T= (p.Tyr78=)
c.*539T= (n.*539T=)
c.895T= (p.Tyr299=)
c.955T= (p.Tyr319=)
c.937T= (p.Tyr313=)
n.1139T=
c.574T= (p.Tyr192=)
n.930T=
17g.30956298dupCA625463660ADAP2c.940dup (p.Tyr314LeufsTer?)
n.360dup
n.374dup
c.958dup (p.Tyr320LeufsTer?)
c.856dup (p.Tyr286LeufsTer?)
c.309dup
c.232dup (p.Tyr78LeufsTer?)
c.*539dup (n.*539dup)
c.895dup (p.Tyr299LeufsTer?)
c.955dup (p.Tyr319LeufsTer?)
c.937dup (p.Tyr313LeufsTer?)
n.1139dup
c.574dup (p.Tyr192LeufsTer?)
n.930dup
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.30956299A=CA2255437263ADAP2c.941A= (p.Tyr314=)
n.361A=
n.375A=
c.959A= (p.Tyr320=)
c.857A= (p.Tyr286=)
c.310A=
c.233A= (p.Tyr78=)
c.*540A= (n.*540A=)
c.896A= (p.Tyr299=)
c.956A= (p.Tyr319=)
c.938A= (p.Tyr313=)
n.1140A=
c.575A= (p.Tyr192=)
n.931A=
17g.30956299A>CCA289356384ADAP2c.941A>C (p.Tyr314Ser)
n.361A>C
n.375A>C
c.959A>C (p.Tyr320Ser)
c.857A>C (p.Tyr286Ser)
c.310A>C
c.233A>C (p.Tyr78Ser)
c.*540A>C (n.*540A>C)
c.896A>C (p.Tyr299Ser)
c.956A>C (p.Tyr319Ser)
c.938A>C (p.Tyr313Ser)
n.1140A>C
c.575A>C (p.Tyr192Ser)
n.931A>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.30956299A>GCA398979084ADAP2c.941A>G (p.Tyr314Cys)
n.361A>G
n.375A>G
c.959A>G (p.Tyr320Cys)
c.857A>G (p.Tyr286Cys)
c.310A>G
c.233A>G (p.Tyr78Cys)
c.*540A>G (n.*540A>G)
c.896A>G (p.Tyr299Cys)
c.956A>G (p.Tyr319Cys)
c.938A>G (p.Tyr313Cys)
n.1140A>G
c.575A>G (p.Tyr192Cys)
n.931A>G
17g.30956299A>TCA398979085ADAP2c.941A>T (p.Tyr314Phe)
n.361A>T
n.375A>T
c.959A>T (p.Tyr320Phe)
c.857A>T (p.Tyr286Phe)
c.310A>T
c.233A>T (p.Tyr78Phe)
c.*540A>T (n.*540A>T)
c.896A>T (p.Tyr299Phe)
c.956A>T (p.Tyr319Phe)
c.938A>T (p.Tyr313Phe)
n.1140A>T
c.575A>T (p.Tyr192Phe)
n.931A>T
17g.30956300C>ACA398979086ADAP2c.942C>A (p.Tyr314Ter)
n.362C>A
n.376C>A
c.960C>A (p.Tyr320Ter)
c.858C>A (p.Tyr286Ter)
c.311C>A
c.234C>A (p.Tyr78Ter)
c.*541C>A (n.*541C>A)
c.897C>A (p.Tyr299Ter)
c.957C>A (p.Tyr319Ter)
c.939C>A (p.Tyr313Ter)
n.1141C>A
c.576C>A (p.Tyr192Ter)
n.932C>A
gnomAD v4
17g.30956300C=CA2255437264ADAP2c.942C= (p.Tyr314=)
n.362C=
n.376C=
c.960C= (p.Tyr320=)
c.858C= (p.Tyr286=)
c.311C=
c.234C= (p.Tyr78=)
c.*541C= (n.*541C=)
c.897C= (p.Tyr299=)
c.957C= (p.Tyr319=)
c.939C= (p.Tyr313=)
n.1141C=
c.576C= (p.Tyr192=)
n.932C=
17g.30956300C>GCA398979087ADAP2c.942C>G (p.Tyr314Ter)
n.362C>G
n.376C>G
c.960C>G (p.Tyr320Ter)
c.858C>G (p.Tyr286Ter)
c.311C>G
c.234C>G (p.Tyr78Ter)
c.*541C>G (n.*541C>G)
c.897C>G (p.Tyr299Ter)
c.957C>G (p.Tyr319Ter)
c.939C>G (p.Tyr313Ter)
n.1141C>G
c.576C>G (p.Tyr192Ter)
n.932C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.30956300C>TCA8485052ADAP2c.942C>T (p.Tyr314=)
n.362C>T
n.376C>T
c.960C>T (p.Tyr320=)
c.858C>T (p.Tyr286=)
c.311C>T
c.234C>T (p.Tyr78=)
c.*541C>T (n.*541C>T)
c.897C>T (p.Tyr299=)
c.957C>T (p.Tyr319=)
c.939C>T (p.Tyr313=)
n.1141C>T
c.576C>T (p.Tyr192=)
n.932C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.30956301G>ACA8485053ADAP2c.943G>A (p.Glu315Lys)
n.363G>A
n.377G>A
c.961G>A (p.Glu321Lys)
c.859G>A (p.Glu287Lys)
c.312G>A
c.235G>A (p.Glu79Lys)
c.*542G>A (n.*542G>A)
c.898G>A (p.Glu300Lys)
c.958G>A (p.Glu320Lys)
c.940G>A (p.Glu314Lys)
n.1142G>A
c.577G>A (p.Glu193Lys)
n.933G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.30956301G>CCA398979088ADAP2c.943G>C (p.Glu315Gln)
n.363G>C
n.377G>C
c.961G>C (p.Glu321Gln)
c.859G>C (p.Glu287Gln)
c.312G>C
c.235G>C (p.Glu79Gln)
c.*542G>C (n.*542G>C)
c.898G>C (p.Glu300Gln)
c.958G>C (p.Glu320Gln)
c.940G>C (p.Glu314Gln)
n.1142G>C
c.577G>C (p.Glu193Gln)
n.933G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.30956301G=CA2255437265ADAP2c.943G= (p.Glu315=)
n.363G=
n.377G=
c.961G= (p.Glu321=)
c.859G= (p.Glu287=)
c.312G=
c.235G= (p.Glu79=)
c.*542G= (n.*542G=)
c.898G= (p.Glu300=)
c.958G= (p.Glu320=)
c.940G= (p.Glu314=)
n.1142G=
c.577G= (p.Glu193=)
n.933G=
17g.30956301G>TCA398979089ADAP2c.943G>T (p.Glu315Ter)
n.363G>T
n.377G>T
c.961G>T (p.Glu321Ter)
c.859G>T (p.Glu287Ter)
c.312G>T
c.235G>T (p.Glu79Ter)
c.*542G>T (n.*542G>T)
c.898G>T (p.Glu300Ter)
c.958G>T (p.Glu320Ter)
c.940G>T (p.Glu314Ter)
n.1142G>T
c.577G>T (p.Glu193Ter)
n.933G>T
17g.30956302A>CCA398979090ADAP2c.944A>C (p.Glu315Ala)
n.364A>C
n.378A>C
c.962A>C (p.Glu321Ala)
c.860A>C (p.Glu287Ala)
c.313A>C
c.236A>C (p.Glu79Ala)
c.*543A>C (n.*543A>C)
c.899A>C (p.Glu300Ala)
c.959A>C (p.Glu320Ala)
c.941A>C (p.Glu314Ala)
n.1143A>C
c.578A>C (p.Glu193Ala)
n.934A>C
gnomAD v4
17g.30956302A>GCA398979091ADAP2c.944A>G (p.Glu315Gly)
n.364A>G
n.378A>G
c.962A>G (p.Glu321Gly)
c.860A>G (p.Glu287Gly)
c.313A>G
c.236A>G (p.Glu79Gly)
c.*543A>G (n.*543A>G)
c.899A>G (p.Glu300Gly)
c.959A>G (p.Glu320Gly)
c.941A>G (p.Glu314Gly)
n.1143A>G
c.578A>G (p.Glu193Gly)
n.934A>G
17g.30956302A>TCA398979092ADAP2c.944A>T (p.Glu315Val)
n.364A>T
n.378A>T
c.962A>T (p.Glu321Val)
c.860A>T (p.Glu287Val)
c.313A>T
c.236A>T (p.Glu79Val)
c.*543A>T (n.*543A>T)
c.899A>T (p.Glu300Val)
c.959A>T (p.Glu320Val)
c.941A>T (p.Glu314Val)
n.1143A>T
c.578A>T (p.Glu193Val)
n.934A>T
17g.30956303A>CCA398979093ADAP2c.945A>C (p.Glu315Asp)
n.365A>C
n.379A>C
c.963A>C (p.Glu321Asp)
c.861A>C (p.Glu287Asp)
c.314A>C
c.237A>C (p.Glu79Asp)
c.*544A>C (n.*544A>C)
c.900A>C (p.Glu300Asp)
c.960A>C (p.Glu320Asp)
c.942A>C (p.Glu314Asp)
n.1144A>C
c.579A>C (p.Glu193Asp)
n.935A>C
17g.30956303A>GCA499226251ADAP2c.945A>G (p.Glu315=)
n.365A>G
n.379A>G
c.963A>G (p.Glu321=)
c.861A>G (p.Glu287=)
c.314A>G
c.237A>G (p.Glu79=)
c.*544A>G (n.*544A>G)
c.900A>G (p.Glu300=)
c.960A>G (p.Glu320=)
c.942A>G (p.Glu314=)
n.1144A>G
c.579A>G (p.Glu193=)
n.935A>G
17g.30956303A>TCA398979094ADAP2c.945A>T (p.Glu315Asp)
n.365A>T
n.379A>T
c.963A>T (p.Glu321Asp)
c.861A>T (p.Glu287Asp)
c.314A>T
c.237A>T (p.Glu79Asp)
c.*544A>T (n.*544A>T)
c.900A>T (p.Glu300Asp)
c.960A>T (p.Glu320Asp)
c.942A>T (p.Glu314Asp)
n.1144A>T
c.579A>T (p.Glu193Asp)
n.935A>T
17g.30956304G>ACA398979097ADAP2c.946G>A (p.Asp316Asn)
n.366G>A
n.380G>A
c.964G>A (p.Asp322Asn)
c.862G>A (p.Asp288Asn)
c.315G>A
c.238G>A (p.Asp80Asn)
c.*545G>A (n.*545G>A)
c.901G>A (p.Asp301Asn)
c.961G>A (p.Asp321Asn)
c.943G>A (p.Asp315Asn)
n.1145G>A
c.580G>A (p.Asp194Asn)
n.936G>A
17g.30956304G>CCA398979095ADAP2c.946G>C (p.Asp316His)
n.366G>C
n.380G>C
c.964G>C (p.Asp322His)
c.862G>C (p.Asp288His)
c.315G>C
c.238G>C (p.Asp80His)
c.*545G>C (n.*545G>C)
c.901G>C (p.Asp301His)
c.961G>C (p.Asp321His)
c.943G>C (p.Asp315His)
n.1145G>C
c.580G>C (p.Asp194His)
n.936G>C
17g.30956304G>TCA398979096ADAP2c.946G>T (p.Asp316Tyr)
n.366G>T
n.380G>T
c.964G>T (p.Asp322Tyr)
c.862G>T (p.Asp288Tyr)
c.315G>T
c.238G>T (p.Asp80Tyr)
c.*545G>T (n.*545G>T)
c.901G>T (p.Asp301Tyr)
c.961G>T (p.Asp321Tyr)
c.943G>T (p.Asp315Tyr)
n.1145G>T
c.580G>T (p.Asp194Tyr)
n.936G>T
17g.30956305A>CCA398979098ADAP2c.947A>C (p.Asp316Ala)
n.367A>C
n.381A>C
c.965A>C (p.Asp322Ala)
c.863A>C (p.Asp288Ala)
c.316A>C
c.239A>C (p.Asp80Ala)
c.*546A>C (n.*546A>C)
c.902A>C (p.Asp301Ala)
c.962A>C (p.Asp321Ala)
c.944A>C (p.Asp315Ala)
n.1146A>C
c.581A>C (p.Asp194Ala)
n.937A>C
17g.30956305A>GCA398979099ADAP2c.947A>G (p.Asp316Gly)
n.367A>G
n.381A>G
c.965A>G (p.Asp322Gly)
c.863A>G (p.Asp288Gly)
c.316A>G
c.239A>G (p.Asp80Gly)
c.*546A>G (n.*546A>G)
c.902A>G (p.Asp301Gly)
c.962A>G (p.Asp321Gly)
c.944A>G (p.Asp315Gly)
n.1146A>G
c.581A>G (p.Asp194Gly)
n.937A>G
gnomAD v4
17g.30956305A>TCA398979100ADAP2c.947A>T (p.Asp316Val)
n.367A>T
n.381A>T
c.965A>T (p.Asp322Val)
c.863A>T (p.Asp288Val)
c.316A>T
c.239A>T (p.Asp80Val)
c.*546A>T (n.*546A>T)
c.902A>T (p.Asp301Val)
c.962A>T (p.Asp321Val)
c.944A>T (p.Asp315Val)
n.1146A>T
c.581A>T (p.Asp194Val)
n.937A>T
17g.30956306C>ACA398979101ADAP2c.948C>A (p.Asp316Glu)
n.368C>A
n.382C>A
c.966C>A (p.Asp322Glu)
c.864C>A (p.Asp288Glu)
c.317C>A
c.240C>A (p.Asp80Glu)
c.*547C>A (n.*547C>A)
c.903C>A (p.Asp301Glu)
c.963C>A (p.Asp321Glu)
c.945C>A (p.Asp315Glu)
n.1147C>A
c.582C>A (p.Asp194Glu)
n.938C>A
17g.30956306C>GCA398979102ADAP2c.948C>G (p.Asp316Glu)
n.368C>G
n.382C>G
c.966C>G (p.Asp322Glu)
c.864C>G (p.Asp288Glu)
c.317C>G
c.240C>G (p.Asp80Glu)
c.*547C>G (n.*547C>G)
c.903C>G (p.Asp301Glu)
c.963C>G (p.Asp321Glu)
c.945C>G (p.Asp315Glu)
n.1147C>G
c.582C>G (p.Asp194Glu)
n.938C>G
17g.30956306C>TCA499226266ADAP2c.948C>T (p.Asp316=)
n.368C>T
n.382C>T
c.966C>T (p.Asp322=)
c.864C>T (p.Asp288=)
c.317C>T
c.240C>T (p.Asp80=)
c.*547C>T (n.*547C>T)
c.903C>T (p.Asp301=)
c.963C>T (p.Asp321=)
c.945C>T (p.Asp315=)
n.1147C>T
c.582C>T (p.Asp194=)
n.938C>T
17g.30956307delCA2637061588ADAP2c.949del (p.Leu317CysfsTer?)
n.369del
n.383del
c.967del (p.Leu323CysfsTer?)
c.865del (p.Leu289CysfsTer?)
c.318del
c.241del (p.Leu81CysfsTer?)
c.*548del (n.*548del)
c.904del (p.Leu302CysfsTer?)
c.964del (p.Leu322CysfsTer?)
c.946del (p.Leu316CysfsTer?)
n.1148del
c.583del (p.Leu195CysfsTer?)
n.939del
gnomAD v4
17g.30956307C>ACA398979103ADAP2c.949C>A (p.Leu317Met)
n.369C>A
n.383C>A
c.967C>A (p.Leu323Met)
c.865C>A (p.Leu289Met)
c.318C>A
c.241C>A (p.Leu81Met)
c.*548C>A (n.*548C>A)
c.904C>A (p.Leu302Met)
c.964C>A (p.Leu322Met)
c.946C>A (p.Leu316Met)
n.1148C>A
c.583C>A (p.Leu195Met)
n.939C>A
17g.30956307C>GCA398979104ADAP2c.949C>G (p.Leu317Val)
n.369C>G
n.383C>G
c.967C>G (p.Leu323Val)
c.865C>G (p.Leu289Val)
c.318C>G
c.241C>G (p.Leu81Val)
c.*548C>G (n.*548C>G)
c.904C>G (p.Leu302Val)
c.964C>G (p.Leu322Val)
c.946C>G (p.Leu316Val)
n.1148C>G
c.583C>G (p.Leu195Val)
n.939C>G
17g.30956307C>TCA499226270ADAP2c.949C>T (p.Leu317=)
n.369C>T
n.383C>T
c.967C>T (p.Leu323=)
c.865C>T (p.Leu289=)
c.318C>T
c.241C>T (p.Leu81=)
c.*548C>T (n.*548C>T)
c.904C>T (p.Leu302=)
c.964C>T (p.Leu322=)
c.946C>T (p.Leu316=)
n.1148C>T
c.583C>T (p.Leu195=)
n.939C>T
17g.30956308T>ACA398979105ADAP2c.950T>A (p.Leu317Gln)
n.370T>A
n.384T>A
c.968T>A (p.Leu323Gln)
c.866T>A (p.Leu289Gln)
c.319T>A
c.242T>A (p.Leu81Gln)
c.*549T>A (n.*549T>A)
c.905T>A (p.Leu302Gln)
c.965T>A (p.Leu322Gln)
c.947T>A (p.Leu316Gln)
n.1149T>A
c.584T>A (p.Leu195Gln)
n.940T>A
17g.30956308T>CCA398979106ADAP2c.950T>C (p.Leu317Pro)
n.370T>C
n.384T>C
c.968T>C (p.Leu323Pro)
c.866T>C (p.Leu289Pro)
c.319T>C
c.242T>C (p.Leu81Pro)
c.*549T>C (n.*549T>C)
c.905T>C (p.Leu302Pro)
c.965T>C (p.Leu322Pro)
c.947T>C (p.Leu316Pro)
n.1149T>C
c.584T>C (p.Leu195Pro)
n.940T>C
17g.30956308T>GCA398979107ADAP2c.950T>G (p.Leu317Arg)
n.370T>G
n.384T>G
c.968T>G (p.Leu323Arg)
c.866T>G (p.Leu289Arg)
c.319T>G
c.242T>G (p.Leu81Arg)
c.*549T>G (n.*549T>G)
c.905T>G (p.Leu302Arg)
c.965T>G (p.Leu322Arg)
c.947T>G (p.Leu316Arg)
n.1149T>G
c.584T>G (p.Leu195Arg)
n.940T>G
17g.30956309G>ACA499226277ADAP2c.951G>A (p.Leu317=)
n.371G>A
n.385G>A
c.969G>A (p.Leu323=)
c.867G>A (p.Leu289=)
c.320G>A
c.243G>A (p.Leu81=)
c.*550G>A (n.*550G>A)
c.906G>A (p.Leu302=)
c.966G>A (p.Leu322=)
c.948G>A (p.Leu316=)
n.1150G>A
c.585G>A (p.Leu195=)
n.941G>A
17g.30956309G>CCA499226275ADAP2c.951G>C (p.Leu317=)
n.371G>C
n.385G>C
c.969G>C (p.Leu323=)
c.867G>C (p.Leu289=)
c.320G>C
c.243G>C (p.Leu81=)
c.*550G>C (n.*550G>C)
c.906G>C (p.Leu302=)
c.966G>C (p.Leu322=)
c.948G>C (p.Leu316=)
n.1150G>C
c.585G>C (p.Leu195=)
n.941G>C
17g.30956309G>TCA499226280ADAP2c.951G>T (p.Leu317=)
n.371G>T
n.385G>T
c.969G>T (p.Leu323=)
c.867G>T (p.Leu289=)
c.320G>T
c.243G>T (p.Leu81=)
c.*550G>T (n.*550G>T)
c.906G>T (p.Leu302=)
c.966G>T (p.Leu322=)
c.948G>T (p.Leu316=)
n.1150G>T
c.585G>T (p.Leu195=)
n.941G>T
17g.30956310C>ACA398979108ADAP2c.952C>A (p.Pro318Thr)
n.372C>A
n.386C>A
c.970C>A (p.Pro324Thr)
c.868C>A (p.Pro290Thr)
c.321C>A
c.244C>A (p.Pro82Thr)
c.*551C>A (n.*551C>A)
c.907C>A (p.Pro303Thr)
c.967C>A (p.Pro323Thr)
c.949C>A (p.Pro317Thr)
n.1151C>A
c.586C>A (p.Pro196Thr)
n.942C>A
17g.30956310C>GCA398979109ADAP2c.952C>G (p.Pro318Ala)
n.372C>G
n.386C>G
c.970C>G (p.Pro324Ala)
c.868C>G (p.Pro290Ala)
c.321C>G
c.244C>G (p.Pro82Ala)
c.*551C>G (n.*551C>G)
c.907C>G (p.Pro303Ala)
c.967C>G (p.Pro323Ala)
c.949C>G (p.Pro317Ala)
n.1151C>G
c.586C>G (p.Pro196Ala)
n.942C>G
17g.30956310C>TCA398979110ADAP2c.952C>T (p.Pro318Ser)
n.372C>T
n.386C>T
c.970C>T (p.Pro324Ser)
c.868C>T (p.Pro290Ser)
c.321C>T
c.244C>T (p.Pro82Ser)
c.*551C>T (n.*551C>T)
c.907C>T (p.Pro303Ser)
c.967C>T (p.Pro323Ser)
c.949C>T (p.Pro317Ser)
n.1151C>T
c.586C>T (p.Pro196Ser)
n.942C>T
17g.30956311C>ACA398979113ADAP2c.953C>A (p.Pro318His)
n.373C>A
n.387C>A
c.971C>A (p.Pro324His)
c.869C>A (p.Pro290His)
c.322C>A
c.245C>A (p.Pro82His)
c.*552C>A (n.*552C>A)
c.908C>A (p.Pro303His)
c.968C>A (p.Pro323His)
c.950C>A (p.Pro317His)
n.1152C>A
c.587C>A (p.Pro196His)
n.943C>A
17g.30956311C>GCA398979112ADAP2c.953C>G (p.Pro318Arg)
n.373C>G
n.387C>G
c.971C>G (p.Pro324Arg)
c.869C>G (p.Pro290Arg)
c.322C>G
c.245C>G (p.Pro82Arg)
c.*552C>G (n.*552C>G)
c.908C>G (p.Pro303Arg)
c.968C>G (p.Pro323Arg)
c.950C>G (p.Pro317Arg)
n.1152C>G
c.587C>G (p.Pro196Arg)
n.943C>G
17g.30956311C>TCA398979111ADAP2c.953C>T (p.Pro318Leu)
n.373C>T
n.387C>T
c.971C>T (p.Pro324Leu)
c.869C>T (p.Pro290Leu)
c.322C>T
c.245C>T (p.Pro82Leu)
c.*552C>T (n.*552C>T)
c.908C>T (p.Pro303Leu)
c.968C>T (p.Pro323Leu)
c.950C>T (p.Pro317Leu)
n.1152C>T
c.587C>T (p.Pro196Leu)
n.943C>T
17g.30956312C>ACA8485054ADAP2c.954C>A (p.Pro318=)
n.374C>A
n.388C>A
c.972C>A (p.Pro324=)
c.870C>A (p.Pro290=)
c.323C>A
c.246C>A (p.Pro82=)
c.*553C>A (n.*553C>A)
c.909C>A (p.Pro303=)
c.969C>A (p.Pro323=)
c.951C>A (p.Pro317=)
n.1153C>A
c.588C>A (p.Pro196=)
n.944C>A
dbSNP ExAC gnomAD v2 gnomAD v4
17g.30956312C=CA2255437266ADAP2c.954C= (p.Pro318=)
n.374C=
n.388C=
c.972C= (p.Pro324=)
c.870C= (p.Pro290=)
c.323C=
c.246C= (p.Pro82=)
c.*553C= (n.*553C=)
c.909C= (p.Pro303=)
c.969C= (p.Pro323=)
c.951C= (p.Pro317=)
n.1153C=
c.588C= (p.Pro196=)
n.944C=
17g.30956312C>GCA499226290ADAP2c.954C>G (p.Pro318=)
n.374C>G
n.388C>G
c.972C>G (p.Pro324=)
c.870C>G (p.Pro290=)
c.323C>G
c.246C>G (p.Pro82=)
c.*553C>G (n.*553C>G)
c.909C>G (p.Pro303=)
c.969C>G (p.Pro323=)
c.951C>G (p.Pro317=)
n.1153C>G
c.588C>G (p.Pro196=)
n.944C>G
17g.30956312C>TCA499226287ADAP2c.954C>T (p.Pro318=)
n.374C>T
n.388C>T
c.972C>T (p.Pro324=)
c.870C>T (p.Pro290=)
c.323C>T
c.246C>T (p.Pro82=)
c.*553C>T (n.*553C>T)
c.909C>T (p.Pro303=)
c.969C>T (p.Pro323=)
c.951C>T (p.Pro317=)
n.1153C>T
c.588C>T (p.Pro196=)
n.944C>T
17g.30956313A>CCA398979114ADAP2c.955A>C (p.Lys319Gln)
n.375A>C
n.389A>C
c.973A>C (p.Lys325Gln)
c.871A>C (p.Lys291Gln)
c.324A>C
c.247A>C (p.Lys83Gln)
c.*554A>C (n.*554A>C)
c.910A>C (p.Lys304Gln)
c.970A>C (p.Lys324Gln)
c.952A>C (p.Lys318Gln)
n.1154A>C
c.589A>C (p.Lys197Gln)
n.945A>C
17g.30956313A>GCA398979115ADAP2c.955A>G (p.Lys319Glu)
n.375A>G
n.389A>G
c.973A>G (p.Lys325Glu)
c.871A>G (p.Lys291Glu)
c.324A>G
c.247A>G (p.Lys83Glu)
c.*554A>G (n.*554A>G)
c.910A>G (p.Lys304Glu)
c.970A>G (p.Lys324Glu)
c.952A>G (p.Lys318Glu)
n.1154A>G
c.589A>G (p.Lys197Glu)
n.945A>G
17g.30956313A>TCA398979116ADAP2c.955A>T (p.Lys319Ter)
n.375A>T
n.389A>T
c.973A>T (p.Lys325Ter)
c.871A>T (p.Lys291Ter)
c.324A>T
c.247A>T (p.Lys83Ter)
c.*554A>T (n.*554A>T)
c.910A>T (p.Lys304Ter)
c.970A>T (p.Lys324Ter)
c.952A>T (p.Lys318Ter)
n.1154A>T
c.589A>T (p.Lys197Ter)
n.945A>T
17g.30956314A=CA2255437267ADAP2c.956A= (p.Lys319=)
n.376A=
n.390A=
c.974A= (p.Lys325=)
c.872A= (p.Lys291=)
c.325A=
c.248A= (p.Lys83=)
c.*555A= (n.*555A=)
c.911A= (p.Lys304=)
c.971A= (p.Lys324=)
c.953A= (p.Lys318=)
n.1155A=
c.590A= (p.Lys197=)
n.946A=
17g.30956314A>CCA398979117ADAP2c.956A>C (p.Lys319Thr)
n.376A>C
n.390A>C
c.974A>C (p.Lys325Thr)
c.872A>C (p.Lys291Thr)
c.325A>C
c.248A>C (p.Lys83Thr)
c.*555A>C (n.*555A>C)
c.911A>C (p.Lys304Thr)
c.971A>C (p.Lys324Thr)
c.953A>C (p.Lys318Thr)
n.1155A>C
c.590A>C (p.Lys197Thr)
n.946A>C
17g.30956314A>GCA289356416ADAP2c.956A>G (p.Lys319Arg)
n.376A>G
n.390A>G
c.974A>G (p.Lys325Arg)
c.872A>G (p.Lys291Arg)
c.325A>G
c.248A>G (p.Lys83Arg)
c.*555A>G (n.*555A>G)
c.911A>G (p.Lys304Arg)
c.971A>G (p.Lys324Arg)
c.953A>G (p.Lys318Arg)
n.1155A>G
c.590A>G (p.Lys197Arg)
n.946A>G
dbSNP gnomAD v4
17g.30956314A>TCA398979118ADAP2c.956A>T (p.Lys319Met)
n.376A>T
n.390A>T
c.974A>T (p.Lys325Met)
c.872A>T (p.Lys291Met)
c.325A>T
c.248A>T (p.Lys83Met)
c.*555A>T (n.*555A>T)
c.911A>T (p.Lys304Met)
c.971A>T (p.Lys324Met)
c.953A>T (p.Lys318Met)
n.1155A>T
c.590A>T (p.Lys197Met)
n.946A>T
17g.30956315G>ACA499226301ADAP2c.957G>A (p.Lys319=)
n.377G>A
n.391G>A
c.975G>A (p.Lys325=)
c.873G>A (p.Lys291=)
c.326G>A
c.249G>A (p.Lys83=)
c.*556G>A (n.*556G>A)
c.912G>A (p.Lys304=)
c.972G>A (p.Lys324=)
c.954G>A (p.Lys318=)
n.1156G>A
c.591G>A (p.Lys197=)
n.947G>A
gnomAD v4
17g.30956315G>CCA398979120ADAP2c.957G>C (p.Lys319Asn)
n.377G>C
n.391G>C
c.975G>C (p.Lys325Asn)
c.873G>C (p.Lys291Asn)
c.326G>C
c.249G>C (p.Lys83Asn)
c.*556G>C (n.*556G>C)
c.912G>C (p.Lys304Asn)
c.972G>C (p.Lys324Asn)
c.954G>C (p.Lys318Asn)
n.1156G>C
c.591G>C (p.Lys197Asn)
n.947G>C
17g.30956315G>TCA398979119ADAP2c.957G>T (p.Lys319Asn)
n.377G>T
n.391G>T
c.975G>T (p.Lys325Asn)
c.873G>T (p.Lys291Asn)
c.326G>T
c.249G>T (p.Lys83Asn)
c.*556G>T (n.*556G>T)
c.912G>T (p.Lys304Asn)
c.972G>T (p.Lys324Asn)
c.954G>T (p.Lys318Asn)
n.1156G>T
c.591G>T (p.Lys197Asn)
n.947G>T
17g.30956316G>ACA398979121ADAP2c.958G>A (p.Gly320Ser)
n.378G>A
n.392G>A
c.976G>A (p.Gly326Ser)
c.874G>A (p.Gly292Ser)
c.327G>A
c.250G>A (p.Gly84Ser)
c.*557G>A (n.*557G>A)
c.913G>A (p.Gly305Ser)
c.973G>A (p.Gly325Ser)
c.955G>A (p.Gly319Ser)
n.1157G>A
c.592G>A (p.Gly198Ser)
n.948G>A
17g.30956316G>CCA398979122ADAP2c.958G>C (p.Gly320Arg)
n.378G>C
n.392G>C
c.976G>C (p.Gly326Arg)
c.874G>C (p.Gly292Arg)
c.327G>C
c.250G>C (p.Gly84Arg)
c.*557G>C (n.*557G>C)
c.913G>C (p.Gly305Arg)
c.973G>C (p.Gly325Arg)
c.955G>C (p.Gly319Arg)
n.1157G>C
c.592G>C (p.Gly198Arg)
n.948G>C
17g.30956316G>TCA398979123ADAP2c.958G>T (p.Gly320Cys)
n.378G>T
n.392G>T
c.976G>T (p.Gly326Cys)
c.874G>T (p.Gly292Cys)
c.327G>T
c.250G>T (p.Gly84Cys)
c.*557G>T (n.*557G>T)
c.913G>T (p.Gly305Cys)
c.973G>T (p.Gly325Cys)
c.955G>T (p.Gly319Cys)
n.1157G>T
c.592G>T (p.Gly198Cys)
n.948G>T
17g.30956317G>ACA398979124ADAP2c.959G>A (p.Gly320Asp)
n.379G>A
n.393G>A
c.977G>A (p.Gly326Asp)
c.875G>A (p.Gly292Asp)
c.328G>A
c.251G>A (p.Gly84Asp)
c.*558G>A (n.*558G>A)
c.914G>A (p.Gly305Asp)
c.974G>A (p.Gly325Asp)
c.956G>A (p.Gly319Asp)
n.1158G>A
c.593G>A (p.Gly198Asp)
n.949G>A
dbSNP
17g.30956317G>CCA398979125ADAP2c.959G>C (p.Gly320Ala)
n.379G>C
n.393G>C
c.977G>C (p.Gly326Ala)
c.875G>C (p.Gly292Ala)
c.328G>C
c.251G>C (p.Gly84Ala)
c.*558G>C (n.*558G>C)
c.914G>C (p.Gly305Ala)
c.974G>C (p.Gly325Ala)
c.956G>C (p.Gly319Ala)
n.1158G>C
c.593G>C (p.Gly198Ala)
n.949G>C
17g.30956317G=CA2255437268ADAP2c.959G= (p.Gly320=)
n.379G=
n.393G=
c.977G= (p.Gly326=)
c.875G= (p.Gly292=)
c.328G=
c.251G= (p.Gly84=)
c.*558G= (n.*558G=)
c.914G= (p.Gly305=)
c.974G= (p.Gly325=)
c.956G= (p.Gly319=)
n.1158G=
c.593G= (p.Gly198=)
n.949G=
17g.30956317G>TCA398979126ADAP2c.959G>T (p.Gly320Val)
n.379G>T
n.393G>T
c.977G>T (p.Gly326Val)
c.875G>T (p.Gly292Val)
c.328G>T
c.251G>T (p.Gly84Val)
c.*558G>T (n.*558G>T)
c.914G>T (p.Gly305Val)
c.974G>T (p.Gly325Val)
c.956G>T (p.Gly319Val)
n.1158G>T
c.593G>T (p.Gly198Val)
n.949G>T
17g.30956318C>ACA499226310ADAP2c.960C>A (p.Gly320=)
n.380C>A
n.394C>A
c.978C>A (p.Gly326=)
c.876C>A (p.Gly292=)
c.329C>A
c.252C>A (p.Gly84=)
c.*559C>A (n.*559C>A)
c.915C>A (p.Gly305=)
c.975C>A (p.Gly325=)
c.957C>A (p.Gly319=)
n.1159C>A
c.594C>A (p.Gly198=)
n.950C>A
17g.30956318C>GCA499226312ADAP2c.960C>G (p.Gly320=)
n.380C>G
n.394C>G
c.978C>G (p.Gly326=)
c.876C>G (p.Gly292=)
c.329C>G
c.252C>G (p.Gly84=)
c.*559C>G (n.*559C>G)
c.915C>G (p.Gly305=)
c.975C>G (p.Gly325=)
c.957C>G (p.Gly319=)
n.1159C>G
c.594C>G (p.Gly198=)
n.950C>G
17g.30956318C>TCA499226314ADAP2c.960C>T (p.Gly320=)
n.380C>T
n.394C>T
c.978C>T (p.Gly326=)
c.876C>T (p.Gly292=)
c.329C>T
c.252C>T (p.Gly84=)
c.*559C>T (n.*559C>T)
c.915C>T (p.Gly305=)
c.975C>T (p.Gly325=)
c.957C>T (p.Gly319=)
n.1159C>T
c.594C>T (p.Gly198=)
n.950C>T
17g.30956319A=CA2255437269ADAP2c.961A= (p.Ile321=)
n.381A=
n.395A=
c.979A= (p.Ile327=)
c.877A= (p.Ile293=)
c.330A=
c.253A= (p.Ile85=)
c.*560A= (n.*560A=)
c.916A= (p.Ile306=)
c.976A= (p.Ile326=)
c.958A= (p.Ile320=)
n.1160A=
c.595A= (p.Ile199=)
n.951A=
17g.30956319A>CCA398979129ADAP2c.961A>C (p.Ile321Leu)
n.381A>C
n.395A>C
c.979A>C (p.Ile327Leu)
c.877A>C (p.Ile293Leu)
c.330A>C
c.253A>C (p.Ile85Leu)
c.*560A>C (n.*560A>C)
c.916A>C (p.Ile306Leu)
c.976A>C (p.Ile326Leu)
c.958A>C (p.Ile320Leu)
n.1160A>C
c.595A>C (p.Ile199Leu)
n.951A>C
dbSNP gnomAD v4
17g.30956319A>GCA398979127ADAP2c.961A>G (p.Ile321Val)
n.381A>G
n.395A>G
c.979A>G (p.Ile327Val)
c.877A>G (p.Ile293Val)
c.330A>G
c.253A>G (p.Ile85Val)
c.*560A>G (n.*560A>G)
c.916A>G (p.Ile306Val)
c.976A>G (p.Ile326Val)
c.958A>G (p.Ile320Val)
n.1160A>G
c.595A>G (p.Ile199Val)
n.951A>G
dbSNP gnomAD v2 gnomAD v4
17g.30956319A>TCA398979128ADAP2c.961A>T (p.Ile321Phe)
n.381A>T
n.395A>T
c.979A>T (p.Ile327Phe)
c.877A>T (p.Ile293Phe)
c.330A>T
c.253A>T (p.Ile85Phe)
c.*560A>T (n.*560A>T)
c.916A>T (p.Ile306Phe)
c.976A>T (p.Ile326Phe)
c.958A>T (p.Ile320Phe)
n.1160A>T
c.595A>T (p.Ile199Phe)
n.951A>T
17g.30956320T>ACA398979130ADAP2c.962T>A (p.Ile321Asn)
n.382T>A
n.396T>A
c.980T>A (p.Ile327Asn)
c.878T>A (p.Ile293Asn)
c.331T>A
c.254T>A (p.Ile85Asn)
c.*561T>A (n.*561T>A)
c.917T>A (p.Ile306Asn)
c.977T>A (p.Ile326Asn)
c.959T>A (p.Ile320Asn)
n.1161T>A
c.596T>A (p.Ile199Asn)
n.952T>A
17g.30956320T>CCA398979131ADAP2c.962T>C (p.Ile321Thr)
n.382T>C
n.396T>C
c.980T>C (p.Ile327Thr)
c.878T>C (p.Ile293Thr)
c.331T>C
c.254T>C (p.Ile85Thr)
c.*561T>C (n.*561T>C)
c.917T>C (p.Ile306Thr)
c.977T>C (p.Ile326Thr)
c.959T>C (p.Ile320Thr)
n.1161T>C
c.596T>C (p.Ile199Thr)
n.952T>C
COSMIC
17g.30956320T>GCA398979132ADAP2c.962T>G (p.Ile321Ser)
n.382T>G
n.396T>G
c.980T>G (p.Ile327Ser)
c.878T>G (p.Ile293Ser)
c.331T>G
c.254T>G (p.Ile85Ser)
c.*561T>G (n.*561T>G)
c.917T>G (p.Ile306Ser)
c.977T>G (p.Ile326Ser)
c.959T>G (p.Ile320Ser)
n.1161T>G
c.596T>G (p.Ile199Ser)
n.952T>G
17g.30956321C>ACA499226323ADAP2c.963C>A (p.Ile321=)
n.383C>A
n.397C>A
c.981C>A (p.Ile327=)
c.879C>A (p.Ile293=)
c.332C>A
c.255C>A (p.Ile85=)
c.*562C>A (n.*562C>A)
c.918C>A (p.Ile306=)
c.978C>A (p.Ile326=)
c.960C>A (p.Ile320=)
n.1162C>A
c.597C>A (p.Ile199=)
n.953C>A
gnomAD v4
17g.30956321C>GCA398979133ADAP2c.963C>G (p.Ile321Met)
n.383C>G
n.397C>G
c.981C>G (p.Ile327Met)
c.879C>G (p.Ile293Met)
c.332C>G
c.255C>G (p.Ile85Met)
c.*562C>G (n.*562C>G)
c.918C>G (p.Ile306Met)
c.978C>G (p.Ile326Met)
c.960C>G (p.Ile320Met)
n.1162C>G
c.597C>G (p.Ile199Met)
n.953C>G
17g.30956321C>TCA499226325ADAP2c.963C>T (p.Ile321=)
n.383C>T
n.397C>T
c.981C>T (p.Ile327=)
c.879C>T (p.Ile293=)
c.332C>T
c.255C>T (p.Ile85=)
c.*562C>T (n.*562C>T)
c.918C>T (p.Ile306=)
c.978C>T (p.Ile326=)
c.960C>T (p.Ile320=)
n.1162C>T
c.597C>T (p.Ile199=)
n.953C>T
17g.30956322C>ACA499226328ADAP2c.964C>A (p.Arg322=)
n.384C>A
n.398C>A
c.982C>A (p.Arg328=)
c.880C>A (p.Arg294=)
c.333C>A
c.256C>A (p.Arg86=)
c.*563C>A (n.*563C>A)
c.919C>A (p.Arg307=)
c.979C>A (p.Arg327=)
c.961C>A (p.Arg321=)
n.1163C>A
c.598C>A (p.Arg200=)
n.954C>A
dbSNP gnomAD v3 gnomAD v4
17g.30956322C=CA2255437270ADAP2c.964C= (p.Arg322=)
n.384C=
n.398C=
c.982C= (p.Arg328=)
c.880C= (p.Arg294=)
c.333C=
c.256C= (p.Arg86=)
c.*563C= (n.*563C=)
c.919C= (p.Arg307=)
c.979C= (p.Arg327=)
c.961C= (p.Arg321=)
n.1163C=
c.598C= (p.Arg200=)
n.954C=
17g.30956322C>GCA8485055ADAP2c.964C>G (p.Arg322Gly)
n.384C>G
n.398C>G
c.982C>G (p.Arg328Gly)
c.880C>G (p.Arg294Gly)
c.333C>G
c.256C>G (p.Arg86Gly)
c.*563C>G (n.*563C>G)
c.919C>G (p.Arg307Gly)
c.979C>G (p.Arg327Gly)
c.961C>G (p.Arg321Gly)
n.1163C>G
c.598C>G (p.Arg200Gly)
n.954C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.30956322C>TCA398979134ADAP2c.964C>T (p.Arg322Ter)
n.384C>T
n.398C>T
c.982C>T (p.Arg328Ter)
c.880C>T (p.Arg294Ter)
c.333C>T
c.256C>T (p.Arg86Ter)
c.*563C>T (n.*563C>T)
c.919C>T (p.Arg307Ter)
c.979C>T (p.Arg327Ter)
c.961C>T (p.Arg321Ter)
n.1163C>T
c.598C>T (p.Arg200Ter)
n.954C>T
dbSNP gnomAD v2 gnomAD v4
17g.30956323G>ACA8485056ADAP2c.965G>A (p.Arg322Gln)
n.385G>A
n.399G>A
c.983G>A (p.Arg328Gln)
c.881G>A (p.Arg294Gln)
c.334G>A
c.257G>A (p.Arg86Gln)
c.*564G>A (n.*564G>A)
c.920G>A (p.Arg307Gln)
c.980G>A (p.Arg327Gln)
c.962G>A (p.Arg321Gln)
n.1164G>A
c.599G>A (p.Arg200Gln)
n.955G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.30956323G>CCA398979135ADAP2c.965G>C (p.Arg322Pro)
n.385G>C
n.399G>C
c.983G>C (p.Arg328Pro)
c.881G>C (p.Arg294Pro)
c.334G>C
c.257G>C (p.Arg86Pro)
c.*564G>C (n.*564G>C)
c.920G>C (p.Arg307Pro)
c.980G>C (p.Arg327Pro)
c.962G>C (p.Arg321Pro)
n.1164G>C
c.599G>C (p.Arg200Pro)
n.955G>C
17g.30956323G=CA2255437271ADAP2c.965G= (p.Arg322=)
n.385G=
n.399G=
c.983G= (p.Arg328=)
c.881G= (p.Arg294=)
c.334G=
c.257G= (p.Arg86=)
c.*564G= (n.*564G=)
c.920G= (p.Arg307=)
c.980G= (p.Arg327=)
c.962G= (p.Arg321=)
n.1164G=
c.599G= (p.Arg200=)
n.955G=
17g.30956323G>TCA398979137ADAP2c.965G>T (p.Arg322Leu)
n.385G>T
n.399G>T
c.983G>T (p.Arg328Leu)
c.881G>T (p.Arg294Leu)
c.334G>T
c.257G>T (p.Arg86Leu)
c.*564G>T (n.*564G>T)
c.920G>T (p.Arg307Leu)
c.980G>T (p.Arg327Leu)
c.962G>T (p.Arg321Leu)
n.1164G>T
c.599G>T (p.Arg200Leu)
n.955G>T
17g.30956324A=CA2255437272ADAP2c.966A= (p.Arg322=)
n.386A=
n.400A=
c.984A= (p.Arg328=)
c.882A= (p.Arg294=)
c.335A=
c.258A= (p.Arg86=)
c.*565A= (n.*565A=)
c.921A= (p.Arg307=)
c.981A= (p.Arg327=)
c.963A= (p.Arg321=)
n.1165A=
c.600A= (p.Arg200=)
n.956A=
17g.30956324A>CCA499226336ADAP2c.966A>C (p.Arg322=)
n.386A>C
n.400A>C
c.984A>C (p.Arg328=)
c.882A>C (p.Arg294=)
c.335A>C
c.258A>C (p.Arg86=)
c.*565A>C (n.*565A>C)
c.921A>C (p.Arg307=)
c.981A>C (p.Arg327=)
c.963A>C (p.Arg321=)
n.1165A>C
c.600A>C (p.Arg200=)
n.956A>C
17g.30956324A>GCA8485057ADAP2c.966A>G (p.Arg322=)
n.386A>G
n.400A>G
c.984A>G (p.Arg328=)
c.882A>G (p.Arg294=)
c.335A>G
c.258A>G (p.Arg86=)
c.*565A>G (n.*565A>G)
c.921A>G (p.Arg307=)
c.981A>G (p.Arg327=)
c.963A>G (p.Arg321=)
n.1165A>G
c.600A>G (p.Arg200=)
n.956A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.30956324A>TCA499226340ADAP2c.966A>T (p.Arg322=)
n.386A>T
n.400A>T
c.984A>T (p.Arg328=)
c.882A>T (p.Arg294=)
c.335A>T
c.258A>T (p.Arg86=)
c.*565A>T (n.*565A>T)
c.921A>T (p.Arg307=)
c.981A>T (p.Arg327=)
c.963A>T (p.Arg321=)
n.1165A>T
c.600A>T (p.Arg200=)
n.956A>T
17g.30956325G>ACA398979138ADAP2c.967G>A (p.Gly323Arg)
n.387G>A
n.401G>A
c.985G>A (p.Gly329Arg)
c.883G>A (p.Gly295Arg)
c.336G>A
c.259G>A (p.Gly87Arg)
c.*566G>A (n.*566G>A)
c.922G>A (p.Gly308Arg)
c.982G>A (p.Gly328Arg)
c.964G>A (p.Gly322Arg)
n.1166G>A
c.601G>A (p.Gly201Arg)
n.957G>A
gnomAD v4 COSMIC
17g.30956325G>CCA398979139ADAP2c.967G>C (p.Gly323Arg)
n.387G>C
n.401G>C
c.985G>C (p.Gly329Arg)
c.883G>C (p.Gly295Arg)
c.336G>C
c.259G>C (p.Gly87Arg)
c.*566G>C (n.*566G>C)
c.922G>C (p.Gly308Arg)
c.982G>C (p.Gly328Arg)
c.964G>C (p.Gly322Arg)
n.1166G>C
c.601G>C (p.Gly201Arg)
n.957G>C
17g.30956325G>TCA398979140ADAP2c.967G>T (p.Gly323Ter)
n.387G>T
n.401G>T
c.985G>T (p.Gly329Ter)
c.883G>T (p.Gly295Ter)
c.336G>T
c.259G>T (p.Gly87Ter)
c.*566G>T (n.*566G>T)
c.922G>T (p.Gly308Ter)
c.982G>T (p.Gly328Ter)
c.964G>T (p.Gly322Ter)
n.1166G>T
c.601G>T (p.Gly201Ter)
n.957G>T
17g.30956330_30956339dupCA2637061589ADAP2c.972_981dup (p.Ala328SerfsTer22)
n.392_401dup
n.406_415dup
c.990_999dup (p.Ala334SerfsTer22)
c.888_897dup (p.Ala300SerfsTer22)
c.341_350dup
c.264_273dup (p.Ala92SerfsTer?)
c.*571_*580dup (n.*571_*580dup)
c.927_936dup (p.Ala313SerfsTer22)
c.990_999dup (p.Ala334SerfsTer?)
c.987_996dup (p.Ala333SerfsTer22)
c.969_978dup (p.Ala327SerfsTer22)
c.972_981dup (p.Ala328SerfsTer?)
n.1171_1180dup
c.606_615dup (p.Ala206SerfsTer22)
n.962_971dup
gnomAD v4
17g.30956326G>ACA398979142ADAP2c.968G>A (p.Gly323Glu)
n.388G>A
n.402G>A
c.986G>A (p.Gly329Glu)
c.884G>A (p.Gly295Glu)
c.337G>A
c.260G>A (p.Gly87Glu)
c.*567G>A (n.*567G>A)
c.923G>A (p.Gly308Glu)
c.983G>A (p.Gly328Glu)
c.965G>A (p.Gly322Glu)
n.1167G>A
c.602G>A (p.Gly201Glu)
n.958G>A
17g.30956326G>CCA398979145ADAP2c.968G>C (p.Gly323Ala)
n.388G>C
n.402G>C
c.986G>C (p.Gly329Ala)
c.884G>C (p.Gly295Ala)
c.337G>C
c.260G>C (p.Gly87Ala)
c.*567G>C (n.*567G>C)
c.923G>C (p.Gly308Ala)
c.983G>C (p.Gly328Ala)
c.965G>C (p.Gly322Ala)
n.1167G>C
c.602G>C (p.Gly201Ala)
n.958G>C
17g.30956326G>TCA398979143ADAP2c.968G>T (p.Gly323Val)
n.388G>T
n.402G>T
c.986G>T (p.Gly329Val)
c.884G>T (p.Gly295Val)
c.337G>T
c.260G>T (p.Gly87Val)
c.*567G>T (n.*567G>T)
c.923G>T (p.Gly308Val)
c.983G>T (p.Gly328Val)
c.965G>T (p.Gly322Val)
n.1167G>T
c.602G>T (p.Gly201Val)
n.958G>T
17g.30956327A>CCA499226350ADAP2c.969A>C (p.Gly323=)
n.389A>C
n.403A>C
c.987A>C (p.Gly329=)
c.885A>C (p.Gly295=)
c.338A>C
c.261A>C (p.Gly87=)
c.*568A>C (n.*568A>C)
c.924A>C (p.Gly308=)
c.984A>C (p.Gly328=)
c.966A>C (p.Gly322=)
n.1168A>C
c.603A>C (p.Gly201=)
n.959A>C
17g.30956327A>GCA499226352ADAP2c.969A>G (p.Gly323=)
n.389A>G
n.403A>G
c.987A>G (p.Gly329=)
c.885A>G (p.Gly295=)
c.338A>G
c.261A>G (p.Gly87=)
c.*568A>G (n.*568A>G)
c.924A>G (p.Gly308=)
c.984A>G (p.Gly328=)
c.966A>G (p.Gly322=)
n.1168A>G
c.603A>G (p.Gly201=)
n.959A>G
17g.30956327A>TCA499226353ADAP2c.969A>T (p.Gly323=)
n.389A>T
n.403A>T
c.987A>T (p.Gly329=)
c.885A>T (p.Gly295=)
c.338A>T
c.261A>T (p.Gly87=)
c.*568A>T (n.*568A>T)
c.924A>T (p.Gly308=)
c.984A>T (p.Gly328=)
c.966A>T (p.Gly322=)
n.1168A>T
c.603A>T (p.Gly201=)
n.959A>T
17g.30956328A>CCA398979147ADAP2c.970A>C (p.Asn324His)
n.390A>C
n.404A>C
c.988A>C (p.Asn330His)
c.886A>C (p.Asn296His)
c.339A>C
c.262A>C (p.Asn88His)
c.*569A>C (n.*569A>C)
c.925A>C (p.Asn309His)
c.985A>C (p.Asn329His)
c.967A>C (p.Asn323His)
n.1169A>C
c.604A>C (p.Asn202His)
n.960A>C
17g.30956328A>GCA398979148ADAP2c.970A>G (p.Asn324Asp)
n.390A>G
n.404A>G
c.988A>G (p.Asn330Asp)
c.886A>G (p.Asn296Asp)
c.339A>G
c.262A>G (p.Asn88Asp)
c.*569A>G (n.*569A>G)
c.925A>G (p.Asn309Asp)
c.985A>G (p.Asn329Asp)
c.967A>G (p.Asn323Asp)
n.1169A>G
c.604A>G (p.Asn202Asp)
n.960A>G
17g.30956328A>TCA398979150ADAP2c.970A>T (p.Asn324Tyr)
n.390A>T
n.404A>T
c.988A>T (p.Asn330Tyr)
c.886A>T (p.Asn296Tyr)
c.339A>T
c.262A>T (p.Asn88Tyr)
c.*569A>T (n.*569A>T)
c.925A>T (p.Asn309Tyr)
c.985A>T (p.Asn329Tyr)
c.967A>T (p.Asn323Tyr)
n.1169A>T
c.604A>T (p.Asn202Tyr)
n.960A>T
17g.30956329A>CCA398979151ADAP2c.971A>C (p.Asn324Thr)
n.391A>C
n.405A>C
c.989A>C (p.Asn330Thr)
c.887A>C (p.Asn296Thr)
c.340A>C
c.263A>C (p.Asn88Thr)
c.*570A>C (n.*570A>C)
c.926A>C (p.Asn309Thr)
c.986A>C (p.Asn329Thr)
c.968A>C (p.Asn323Thr)
n.1170A>C
c.605A>C (p.Asn202Thr)
n.961A>C
17g.30956329A>GCA398979152ADAP2c.971A>G (p.Asn324Ser)
n.391A>G
n.405A>G
c.989A>G (p.Asn330Ser)
c.887A>G (p.Asn296Ser)
c.340A>G
c.263A>G (p.Asn88Ser)
c.*570A>G (n.*570A>G)
c.926A>G (p.Asn309Ser)
c.986A>G (p.Asn329Ser)
c.968A>G (p.Asn323Ser)
n.1170A>G
c.605A>G (p.Asn202Ser)
n.961A>G
gnomAD v4
17g.30956329A>TCA398979154ADAP2c.971A>T (p.Asn324Ile)
n.391A>T
n.405A>T
c.989A>T (p.Asn330Ile)
c.887A>T (p.Asn296Ile)
c.340A>T
c.263A>T (p.Asn88Ile)
c.*570A>T (n.*570A>T)
c.926A>T (p.Asn309Ile)
c.986A>T (p.Asn329Ile)
c.968A>T (p.Asn323Ile)
n.1170A>T
c.605A>T (p.Asn202Ile)
n.961A>T
17g.30956330T>ACA398979156ADAP2c.972T>A (p.Asn324Lys)
n.392T>A
n.406T>A
c.990T>A (p.Asn330Lys)
c.888T>A (p.Asn296Lys)
c.341T>A
c.264T>A (p.Asn88Lys)
c.*571T>A (n.*571T>A)
c.927T>A (p.Asn309Lys)
c.987T>A (p.Asn329Lys)
c.969T>A (p.Asn323Lys)
n.1171T>A
c.606T>A (p.Asn202Lys)
n.962T>A
dbSNP gnomAD v2 gnomAD v4
17g.30956330T>CCA499226366ADAP2c.972T>C (p.Asn324=)
n.392T>C
n.406T>C
c.990T>C (p.Asn330=)
c.888T>C (p.Asn296=)
c.341T>C
c.264T>C (p.Asn88=)
c.*571T>C (n.*571T>C)
c.927T>C (p.Asn309=)
c.987T>C (p.Asn329=)
c.969T>C (p.Asn323=)
n.1171T>C
c.606T>C (p.Asn202=)
n.962T>C
17g.30956330T>GCA398979158ADAP2c.972T>G (p.Asn324Lys)
n.392T>G
n.406T>G
c.990T>G (p.Asn330Lys)
c.888T>G (p.Asn296Lys)
c.341T>G
c.264T>G (p.Asn88Lys)
c.*571T>G (n.*571T>G)
c.927T>G (p.Asn309Lys)
c.987T>G (p.Asn329Lys)
c.969T>G (p.Asn323Lys)
n.1171T>G
c.606T>G (p.Asn202Lys)
n.962T>G
17g.30956330T=CA2255437273ADAP2c.972T= (p.Asn324=)
n.392T=
n.406T=
c.990T= (p.Asn330=)
c.888T= (p.Asn296=)
c.341T=
c.264T= (p.Asn88=)
c.*571T= (n.*571T=)
c.927T= (p.Asn309=)
c.987T= (p.Asn329=)
c.969T= (p.Asn323=)
n.1171T=
c.606T= (p.Asn202=)
n.962T=
17g.30956331C>ACA398979160ADAP2c.973C>A (p.Arg325Ser)
n.393C>A
n.407C>A
c.991C>A (p.Arg331Ser)
c.889C>A (p.Arg297Ser)
c.342C>A
c.265C>A (p.Arg89Ser)
c.*572C>A (n.*572C>A)
c.928C>A (p.Arg310Ser)
c.988C>A (p.Arg330Ser)
c.970C>A (p.Arg324Ser)
n.1172C>A
c.607C>A (p.Arg203Ser)
n.963C>A
17g.30956331C=CA2255437274ADAP2c.973C= (p.Arg325=)
n.393C=
n.407C=
c.991C= (p.Arg331=)
c.889C= (p.Arg297=)
c.342C=
c.265C= (p.Arg89=)
c.*572C= (n.*572C=)
c.928C= (p.Arg310=)
c.988C= (p.Arg330=)
c.970C= (p.Arg324=)
n.1172C=
c.607C= (p.Arg203=)
n.963C=
17g.30956331C>GCA398979161ADAP2c.973C>G (p.Arg325Gly)
n.393C>G
n.407C>G
c.991C>G (p.Arg331Gly)
c.889C>G (p.Arg297Gly)
c.342C>G
c.265C>G (p.Arg89Gly)
c.*572C>G (n.*572C>G)
c.928C>G (p.Arg310Gly)
c.988C>G (p.Arg330Gly)
c.970C>G (p.Arg324Gly)
n.1172C>G
c.607C>G (p.Arg203Gly)
n.963C>G
gnomAD v4
17g.30956331C>TCA398979163ADAP2c.973C>T (p.Arg325Cys)
n.393C>T
n.407C>T
c.991C>T (p.Arg331Cys)
c.889C>T (p.Arg297Cys)
c.342C>T
c.265C>T (p.Arg89Cys)
c.*572C>T (n.*572C>T)
c.928C>T (p.Arg310Cys)
c.988C>T (p.Arg330Cys)
c.970C>T (p.Arg324Cys)
n.1172C>T
c.607C>T (p.Arg203Cys)
n.963C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.30956332G>ACA289356427ADAP2c.974G>A (p.Arg325His)
n.394G>A
n.408G>A
c.992G>A (p.Arg331His)
c.890G>A (p.Arg297His)
c.343G>A
c.266G>A (p.Arg89His)
c.*573G>A (n.*573G>A)
c.929G>A (p.Arg310His)
c.989G>A (p.Arg330His)
c.971G>A (p.Arg324His)
n.1173G>A
c.608G>A (p.Arg203His)
n.964G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.30956332G>CCA398979166ADAP2c.974G>C (p.Arg325Pro)
n.394G>C
n.408G>C
c.992G>C (p.Arg331Pro)
c.890G>C (p.Arg297Pro)
c.343G>C
c.266G>C (p.Arg89Pro)
c.*573G>C (n.*573G>C)
c.929G>C (p.Arg310Pro)
c.989G>C (p.Arg330Pro)
c.971G>C (p.Arg324Pro)
n.1173G>C
c.608G>C (p.Arg203Pro)
n.964G>C
gnomAD v4
17g.30956332G=CA2255437275ADAP2c.974G= (p.Arg325=)
n.394G=
n.408G=
c.992G= (p.Arg331=)
c.890G= (p.Arg297=)
c.343G=
c.266G= (p.Arg89=)
c.*573G= (n.*573G=)
c.929G= (p.Arg310=)
c.989G= (p.Arg330=)
c.971G= (p.Arg324=)
n.1173G=
c.608G= (p.Arg203=)
n.964G=
17g.30956332G>TCA398979168ADAP2c.974G>T (p.Arg325Leu)
n.394G>T
n.408G>T
c.992G>T (p.Arg331Leu)
c.890G>T (p.Arg297Leu)
c.343G>T
c.266G>T (p.Arg89Leu)
c.*573G>T (n.*573G>T)
c.929G>T (p.Arg310Leu)
c.989G>T (p.Arg330Leu)
c.971G>T (p.Arg324Leu)
n.1173G>T
c.608G>T (p.Arg203Leu)
n.964G>T
gnomAD v4
17g.30956333C>ACA499226374ADAP2c.975C>A (p.Arg325=)
n.395C>A
n.409C>A
c.993C>A (p.Arg331=)
c.891C>A (p.Arg297=)
c.344C>A
c.267C>A (p.Arg89=)
c.*574C>A (n.*574C>A)
c.930C>A (p.Arg310=)
c.990C>A (p.Arg330=)
c.972C>A (p.Arg324=)
n.1174C>A
c.609C>A (p.Arg203=)
n.965C>A
17g.30956333C=CA2255437276ADAP2c.975C= (p.Arg325=)
n.395C=
n.409C=
c.993C= (p.Arg331=)
c.891C= (p.Arg297=)
c.344C=
c.267C= (p.Arg89=)
c.*574C= (n.*574C=)
c.930C= (p.Arg310=)
c.990C= (p.Arg330=)
c.972C= (p.Arg324=)
n.1174C=
c.609C= (p.Arg203=)
n.965C=
17g.30956333C>GCA499226376ADAP2c.975C>G (p.Arg325=)
n.395C>G
n.409C>G
c.993C>G (p.Arg331=)
c.891C>G (p.Arg297=)
c.344C>G
c.267C>G (p.Arg89=)
c.*574C>G (n.*574C>G)
c.930C>G (p.Arg310=)
c.990C>G (p.Arg330=)
c.972C>G (p.Arg324=)
n.1174C>G
c.609C>G (p.Arg203=)
n.965C>G
17g.30956333C>TCA8485058ADAP2c.975C>T (p.Arg325=)
n.395C>T
n.409C>T
c.993C>T (p.Arg331=)
c.891C>T (p.Arg297=)
c.344C>T
c.267C>T (p.Arg89=)
c.*574C>T (n.*574C>T)
c.930C>T (p.Arg310=)
c.990C>T (p.Arg330=)
c.972C>T (p.Arg324=)
n.1174C>T
c.609C>T (p.Arg203=)
n.965C>T
dbSNP ExAC gnomAD v2 gnomAD v4
17g.30956334T>ACA398979170ADAP2c.976T>A (p.Trp326Arg)
n.396T>A
n.410T>A
c.994T>A (p.Trp332Arg)
c.892T>A (p.Trp298Arg)
c.345T>A
c.268T>A (p.Trp90Arg)
c.*575T>A (n.*575T>A)
c.931T>A (p.Trp311Arg)
c.991T>A (p.Trp331Arg)
c.973T>A (p.Trp325Arg)
n.1175T>A
c.610T>A (p.Trp204Arg)
n.966T>A
17g.30956334T>CCA398979171ADAP2c.976T>C (p.Trp326Arg)
n.396T>C
n.410T>C
c.994T>C (p.Trp332Arg)
c.892T>C (p.Trp298Arg)
c.345T>C
c.268T>C (p.Trp90Arg)
c.*575T>C (n.*575T>C)
c.931T>C (p.Trp311Arg)
c.991T>C (p.Trp331Arg)
c.973T>C (p.Trp325Arg)
n.1175T>C
c.610T>C (p.Trp204Arg)
n.966T>C
17g.30956334T>GCA398979173ADAP2c.976T>G (p.Trp326Gly)
n.396T>G
n.410T>G
c.994T>G (p.Trp332Gly)
c.892T>G (p.Trp298Gly)
c.345T>G
c.268T>G (p.Trp90Gly)
c.*575T>G (n.*575T>G)
c.931T>G (p.Trp311Gly)
c.991T>G (p.Trp331Gly)
c.973T>G (p.Trp325Gly)
n.1175T>G
c.610T>G (p.Trp204Gly)
n.966T>G
17g.30956335G>ACA289356455ADAP2c.977G>A (p.Trp326Ter)
n.397G>A
n.411G>A
c.995G>A (p.Trp332Ter)
c.893G>A (p.Trp298Ter)
c.346G>A
c.269G>A (p.Trp90Ter)
c.*576G>A (n.*576G>A)
c.932G>A (p.Trp311Ter)
c.992G>A (p.Trp331Ter)
c.974G>A (p.Trp325Ter)
n.1176G>A
c.611G>A (p.Trp204Ter)
n.967G>A
dbSNP
17g.30956335G>CCA398979176ADAP2c.977G>C (p.Trp326Ser)
n.397G>C
n.411G>C
c.995G>C (p.Trp332Ser)
c.893G>C (p.Trp298Ser)
c.346G>C
c.269G>C (p.Trp90Ser)
c.*576G>C (n.*576G>C)
c.932G>C (p.Trp311Ser)
c.992G>C (p.Trp331Ser)
c.974G>C (p.Trp325Ser)
n.1176G>C
c.611G>C (p.Trp204Ser)
n.967G>C
17g.30956335G=CA2255437277ADAP2c.977G= (p.Trp326=)
n.397G=
n.411G=
c.995G= (p.Trp332=)
c.893G= (p.Trp298=)
c.346G=
c.269G= (p.Trp90=)
c.*576G= (n.*576G=)
c.932G= (p.Trp311=)
c.992G= (p.Trp331=)
c.974G= (p.Trp325=)
n.1176G=
c.611G= (p.Trp204=)
n.967G=
17g.30956335G>TCA398979178ADAP2c.977G>T (p.Trp326Leu)
n.397G>T
n.411G>T
c.995G>T (p.Trp332Leu)
c.893G>T (p.Trp298Leu)
c.346G>T
c.269G>T (p.Trp90Leu)
c.*576G>T (n.*576G>T)
c.932G>T (p.Trp311Leu)
c.992G>T (p.Trp331Leu)
c.974G>T (p.Trp325Leu)
n.1176G>T
c.611G>T (p.Trp204Leu)
n.967G>T
17g.30956336G>ACA398979180ADAP2c.978G>A (p.Trp326Ter)
n.398G>A
n.412G>A
c.996G>A (p.Trp332Ter)
c.894G>A (p.Trp298Ter)
c.347G>A
c.270G>A (p.Trp90Ter)
c.*577G>A (n.*577G>A)
c.933G>A (p.Trp311Ter)
c.993G>A (p.Trp331Ter)
c.975G>A (p.Trp325Ter)
n.1177G>A
c.612G>A (p.Trp204Ter)
n.968G>A
17g.30956336G>CCA398979182ADAP2c.978G>C (p.Trp326Cys)
n.398G>C
n.412G>C
c.996G>C (p.Trp332Cys)
c.894G>C (p.Trp298Cys)
c.347G>C
c.270G>C (p.Trp90Cys)
c.*577G>C (n.*577G>C)
c.933G>C (p.Trp311Cys)
c.993G>C (p.Trp331Cys)
c.975G>C (p.Trp325Cys)
n.1177G>C
c.612G>C (p.Trp204Cys)
n.968G>C
17g.30956336G>TCA398979183ADAP2c.978G>T (p.Trp326Cys)
n.398G>T
n.412G>T
c.996G>T (p.Trp332Cys)
c.894G>T (p.Trp298Cys)
c.347G>T
c.270G>T (p.Trp90Cys)
c.*577G>T (n.*577G>T)
c.933G>T (p.Trp311Cys)
c.993G>T (p.Trp331Cys)
c.975G>T (p.Trp325Cys)
n.1177G>T
c.612G>T (p.Trp204Cys)
n.968G>T
17g.30956337A>CCA398979186ADAP2c.979A>C (p.Lys327Gln)
n.399A>C
n.413A>C
c.997A>C (p.Lys333Gln)
c.895A>C (p.Lys299Gln)
c.348A>C
c.271A>C (p.Lys91Gln)
c.*578A>C (n.*578A>C)
c.934A>C (p.Lys312Gln)
c.994A>C (p.Lys332Gln)
c.976A>C (p.Lys326Gln)
n.1178A>C
c.613A>C (p.Lys205Gln)
n.969A>C
17g.30956337A>GCA398979187ADAP2c.979A>G (p.Lys327Glu)
n.399A>G
n.413A>G
c.997A>G (p.Lys333Glu)
c.895A>G (p.Lys299Glu)
c.348A>G
c.271A>G (p.Lys91Glu)
c.*578A>G (n.*578A>G)
c.934A>G (p.Lys312Glu)
c.994A>G (p.Lys332Glu)
c.976A>G (p.Lys326Glu)
n.1178A>G
c.613A>G (p.Lys205Glu)
n.969A>G
gnomAD v4
17g.30956337A>TCA398979189ADAP2c.979A>T (p.Lys327Ter)
n.399A>T
n.413A>T
c.997A>T (p.Lys333Ter)
c.895A>T (p.Lys299Ter)
c.348A>T
c.271A>T (p.Lys91Ter)
c.*578A>T (n.*578A>T)
c.934A>T (p.Lys312Ter)
c.994A>T (p.Lys332Ter)
c.976A>T (p.Lys326Ter)
n.1178A>T
c.613A>T (p.Lys205Ter)
n.969A>T
17g.30956338A=CA2255437278ADAP2c.980A= (p.Lys327=)
n.400A=
n.414A=
c.998A= (p.Lys333=)
c.896A= (p.Lys299=)
c.349A=
c.272A= (p.Lys91=)
c.*579A= (n.*579A=)
c.935A= (p.Lys312=)
c.995A= (p.Lys332=)
c.977A= (p.Lys326=)
n.1179A=
c.614A= (p.Lys205=)
n.970A=
17g.30956338A>CCA398979191ADAP2c.980A>C (p.Lys327Thr)
n.400A>C
n.414A>C
c.998A>C (p.Lys333Thr)
c.896A>C (p.Lys299Thr)
c.349A>C
c.272A>C (p.Lys91Thr)
c.*579A>C (n.*579A>C)
c.935A>C (p.Lys312Thr)
c.995A>C (p.Lys332Thr)
c.977A>C (p.Lys326Thr)
n.1179A>C
c.614A>C (p.Lys205Thr)
n.970A>C
dbSNP gnomAD v2 gnomAD v4
17g.30956338A>GCA398979195ADAP2c.980A>G (p.Lys327Arg)
n.400A>G
n.414A>G
c.998A>G (p.Lys333Arg)
c.896A>G (p.Lys299Arg)
c.349A>G
c.272A>G (p.Lys91Arg)
c.*579A>G (n.*579A>G)
c.935A>G (p.Lys312Arg)
c.995A>G (p.Lys332Arg)
c.977A>G (p.Lys326Arg)
n.1179A>G
c.614A>G (p.Lys205Arg)
n.970A>G
17g.30956338A>TCA398979193ADAP2c.980A>T (p.Lys327Ile)
n.400A>T
n.414A>T
c.998A>T (p.Lys333Ile)
c.896A>T (p.Lys299Ile)
c.349A>T
c.272A>T (p.Lys91Ile)
c.*579A>T (n.*579A>T)
c.935A>T (p.Lys312Ile)
c.995A>T (p.Lys332Ile)
c.977A>T (p.Lys326Ile)
n.1179A>T
c.614A>T (p.Lys205Ile)
n.970A>T
dbSNP gnomAD v2 gnomAD v4
17g.30956339A>CCA398979197ADAP2c.981A>C (p.Lys327Asn)
n.401A>C
n.415A>C
c.999A>C (p.Lys333Asn)
c.897A>C (p.Lys299Asn)
c.350A>C
c.273A>C (p.Lys91Asn)
c.*580A>C (n.*580A>C)
c.936A>C (p.Lys312Asn)
c.996A>C (p.Lys332Asn)
c.978A>C (p.Lys326Asn)
n.1180A>C
c.615A>C (p.Lys205Asn)
n.971A>C
17g.30956339A>GCA499226395ADAP2c.981A>G (p.Lys327=)
n.401A>G
n.415A>G
c.999A>G (p.Lys333=)
c.897A>G (p.Lys299=)
c.350A>G
c.273A>G (p.Lys91=)
c.*580A>G (n.*580A>G)
c.936A>G (p.Lys312=)
c.996A>G (p.Lys332=)
c.978A>G (p.Lys326=)
n.1180A>G
c.615A>G (p.Lys205=)
n.971A>G
17g.30956339A>TCA398979199ADAP2c.981A>T (p.Lys327Asn)
n.401A>T
n.415A>T
c.999A>T (p.Lys333Asn)
c.897A>T (p.Lys299Asn)
c.350A>T
c.273A>T (p.Lys91Asn)
c.*580A>T (n.*580A>T)
c.936A>T (p.Lys312Asn)
c.996A>T (p.Lys332Asn)
c.978A>T (p.Lys326Asn)
n.1180A>T
c.615A>T (p.Lys205Asn)
n.971A>T
17g.30956340G>ACA398979200ADAP2c.982G>A (p.Ala328Thr)
n.402G>A
n.416G>A
c.1000G>A (p.Ala334Thr)
c.898G>A (p.Ala300Thr)
c.351G>A
c.274G>A (p.Ala92Thr)
c.*581G>A (n.*581G>A)
c.937G>A (p.Ala313Thr)
c.997G>A (p.Ala333Thr)
c.979G>A (p.Ala327Thr)
n.1181G>A
c.616G>A (p.Ala206Thr)
n.972G>A
17g.30956340G>CCA398979202ADAP2c.982G>C (p.Ala328Pro)
n.402G>C
n.416G>C
c.1000G>C (p.Ala334Pro)
c.898G>C (p.Ala300Pro)
c.351G>C
c.274G>C (p.Ala92Pro)
c.*581G>C (n.*581G>C)
c.937G>C (p.Ala313Pro)
c.997G>C (p.Ala333Pro)
c.979G>C (p.Ala327Pro)
n.1181G>C
c.616G>C (p.Ala206Pro)
n.972G>C
17g.30956340G>TCA398979204ADAP2c.982G>T (p.Ala328Ser)
n.402G>T
n.416G>T
c.1000G>T (p.Ala334Ser)
c.898G>T (p.Ala300Ser)
c.351G>T
c.274G>T (p.Ala92Ser)
c.*581G>T (n.*581G>T)
c.937G>T (p.Ala313Ser)
c.997G>T (p.Ala333Ser)
c.979G>T (p.Ala327Ser)
n.1181G>T
c.616G>T (p.Ala206Ser)
n.972G>T
17g.30956341C>ACA398979206ADAP2c.983C>A (p.Ala328Asp)
n.403C>A
n.417C>A
c.1001C>A (p.Ala334Asp)
c.899C>A (p.Ala300Asp)
c.352C>A
c.275C>A (p.Ala92Asp)
c.*582C>A (n.*582C>A)
c.938C>A (p.Ala313Asp)
c.998C>A (p.Ala333Asp)
c.980C>A (p.Ala327Asp)
n.1182C>A
c.617C>A (p.Ala206Asp)
n.973C>A
17g.30956341C=CA2255437279ADAP2c.983C= (p.Ala328=)
n.403C=
n.417C=
c.1001C= (p.Ala334=)
c.899C= (p.Ala300=)
c.352C=
c.275C= (p.Ala92=)
c.*582C= (n.*582C=)
c.938C= (p.Ala313=)
c.998C= (p.Ala333=)
c.980C= (p.Ala327=)
n.1182C=
c.617C= (p.Ala206=)
n.973C=
17g.30956341C>GCA398979207ADAP2c.983C>G (p.Ala328Gly)
n.403C>G
n.417C>G
c.1001C>G (p.Ala334Gly)
c.899C>G (p.Ala300Gly)
c.352C>G
c.275C>G (p.Ala92Gly)
c.*582C>G (n.*582C>G)
c.938C>G (p.Ala313Gly)
c.998C>G (p.Ala333Gly)
c.980C>G (p.Ala327Gly)
n.1182C>G
c.617C>G (p.Ala206Gly)
n.973C>G
17g.30956341C>TCA398979209ADAP2c.983C>T (p.Ala328Val)
n.403C>T
n.417C>T
c.1001C>T (p.Ala334Val)
c.899C>T (p.Ala300Val)
c.352C>T
c.275C>T (p.Ala92Val)
c.*582C>T (n.*582C>T)
c.938C>T (p.Ala313Val)
c.998C>T (p.Ala333Val)
c.980C>T (p.Ala327Val)
n.1182C>T
c.617C>T (p.Ala206Val)
n.973C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.30956342C>ACA499226403ADAP2c.984C>A (p.Ala328=)
n.404C>A
n.418C>A
c.1002C>A (p.Ala334=)
c.900C>A (p.Ala300=)
c.353C>A
c.276C>A (p.Ala92=)
c.*583C>A (n.*583C>A)
c.939C>A (p.Ala313=)
c.999C>A (p.Ala333=)
c.981C>A (p.Ala327=)
n.1183C>A
c.618C>A (p.Ala206=)
n.974C>A
gnomAD v4
17g.30956342C=CA2255437280ADAP2c.984C= (p.Ala328=)
n.404C=
n.418C=
c.1002C= (p.Ala334=)
c.900C= (p.Ala300=)
c.353C=
c.276C= (p.Ala92=)
c.*583C= (n.*583C=)
c.939C= (p.Ala313=)
c.999C= (p.Ala333=)
c.981C= (p.Ala327=)
n.1183C=
c.618C= (p.Ala206=)
n.974C=
17g.30956342C>GCA499226404ADAP2c.984C>G (p.Ala328=)
n.404C>G
n.418C>G
c.1002C>G (p.Ala334=)
c.900C>G (p.Ala300=)
c.353C>G
c.276C>G (p.Ala92=)
c.*583C>G (n.*583C>G)
c.939C>G (p.Ala313=)
c.999C>G (p.Ala333=)
c.981C>G (p.Ala327=)
n.1183C>G
c.618C>G (p.Ala206=)
n.974C>G
dbSNP gnomAD v4
17g.30956342C>TCA8485059ADAP2c.984C>T (p.Ala328=)
n.404C>T
n.418C>T
c.1002C>T (p.Ala334=)
c.900C>T (p.Ala300=)
c.353C>T
c.276C>T (p.Ala92=)
c.*583C>T (n.*583C>T)
c.939C>T (p.Ala313=)
c.999C>T (p.Ala333=)
c.981C>T (p.Ala327=)
n.1183C>T
c.618C>T (p.Ala206=)
n.974C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.30956343G>ACA398979212ADAP2c.985G>A (p.Gly329Arg)
n.405G>A
n.419G>A
c.1003G>A (p.Gly335Arg)
c.901G>A (p.Gly301Arg)
c.354G>A
c.277G>A (p.Gly93Arg)
c.*584G>A (n.*584G>A)
c.940G>A (p.Gly314Arg)
c.1000G>A (p.Gly334Arg)
c.982G>A (p.Gly328Arg)
n.1184G>A
c.619G>A (p.Gly207Arg)
n.975G>A
dbSNP gnomAD v3 gnomAD v4 COSMIC
17g.30956343G>CCA398979214ADAP2c.985G>C (p.Gly329Arg)
n.405G>C
n.419G>C
c.1003G>C (p.Gly335Arg)
c.901G>C (p.Gly301Arg)
c.354G>C
c.277G>C (p.Gly93Arg)
c.*584G>C (n.*584G>C)
c.940G>C (p.Gly314Arg)
c.1000G>C (p.Gly334Arg)
c.982G>C (p.Gly328Arg)
n.1184G>C
c.619G>C (p.Gly207Arg)
n.975G>C
17g.30956343G=CA2255437281ADAP2c.985G= (p.Gly329=)
n.405G=
n.419G=
c.1003G= (p.Gly335=)
c.901G= (p.Gly301=)
c.354G=
c.277G= (p.Gly93=)
c.*584G= (n.*584G=)
c.940G= (p.Gly314=)
c.1000G= (p.Gly334=)
c.982G= (p.Gly328=)
n.1184G=
c.619G= (p.Gly207=)
n.975G=
17g.30956343G>TCA398979215ADAP2c.985G>T (p.Gly329Ter)
n.405G>T
n.419G>T
c.1003G>T (p.Gly335Ter)
c.901G>T (p.Gly301Ter)
c.354G>T
c.277G>T (p.Gly93Ter)
c.*584G>T (n.*584G>T)
c.940G>T (p.Gly314Ter)
c.1000G>T (p.Gly334Ter)
c.982G>T (p.Gly328Ter)
n.1184G>T
c.619G>T (p.Gly207Ter)
n.975G>T
17g.30956344G>ACA398979217ADAP2c.986G>A (p.Gly329Glu)
n.406G>A
n.420G>A
c.1004G>A (p.Gly335Glu)
c.902G>A (p.Gly301Glu)
c.355G>A
c.278G>A (p.Gly93Glu)
c.*585G>A (n.*585G>A)
c.941G>A (p.Gly314Glu)
c.1001G>A (p.Gly334Glu)
c.983G>A (p.Gly328Glu)
n.1185G>A
c.620G>A (p.Gly207Glu)
n.976G>A
17g.30956344G>CCA398979219ADAP2c.986G>C (p.Gly329Ala)
n.406G>C
n.420G>C
c.1004G>C (p.Gly335Ala)
c.902G>C (p.Gly301Ala)
c.355G>C
c.278G>C (p.Gly93Ala)
c.*585G>C (n.*585G>C)
c.941G>C (p.Gly314Ala)
c.1001G>C (p.Gly334Ala)
c.983G>C (p.Gly328Ala)
n.1185G>C
c.620G>C (p.Gly207Ala)
n.976G>C
17g.30956344G>TCA398979221ADAP2c.986G>T (p.Gly329Val)
n.406G>T
n.420G>T
c.1004G>T (p.Gly335Val)
c.902G>T (p.Gly301Val)
c.355G>T
c.278G>T (p.Gly93Val)
c.*585G>T (n.*585G>T)
c.941G>T (p.Gly314Val)
c.1001G>T (p.Gly334Val)
c.983G>T (p.Gly328Val)
n.1185G>T
c.620G>T (p.Gly207Val)
n.976G>T
17g.30956345A>CCA499226413ADAP2c.987A>C (p.Gly329=)
n.407A>C
n.421A>C
c.1005A>C (p.Gly335=)
c.903A>C (p.Gly301=)
c.356A>C
c.279A>C (p.Gly93=)
c.*586A>C (n.*586A>C)
c.942A>C (p.Gly314=)
c.1002A>C (p.Gly334=)
c.984A>C (p.Gly328=)
n.1186A>C
c.621A>C (p.Gly207=)
n.977A>C
17g.30956345A>GCA499226415ADAP2c.987A>G (p.Gly329=)
n.407A>G
n.421A>G
c.1005A>G (p.Gly335=)
c.903A>G (p.Gly301=)
c.356A>G
c.279A>G (p.Gly93=)
c.*586A>G (n.*586A>G)
c.942A>G (p.Gly314=)
c.1002A>G (p.Gly334=)
c.984A>G (p.Gly328=)
n.1186A>G
c.621A>G (p.Gly207=)
n.977A>G
17g.30956345A>TCA499226417ADAP2c.987A>T (p.Gly329=)
n.407A>T
n.421A>T
c.1005A>T (p.Gly335=)
c.903A>T (p.Gly301=)
c.356A>T
c.279A>T (p.Gly93=)
c.*586A>T (n.*586A>T)
c.942A>T (p.Gly314=)
c.1002A>T (p.Gly334=)
c.984A>T (p.Gly328=)
n.1186A>T
c.621A>T (p.Gly207=)
n.977A>T
gnomAD v4
17g.30956346C>ACA398979223ADAP2c.988C>A (p.Leu330Ile)
n.408C>A
n.422C>A
c.1006C>A (p.Leu336Ile)
c.904C>A (p.Leu302Ile)
c.357C>A
c.280C>A (p.Leu94Ile)
c.*587C>A (n.*587C>A)
c.943C>A (p.Leu315Ile)
c.1003C>A (p.Leu335Ile)
c.985C>A (p.Leu329Ile)
n.1187C>A
c.622C>A (p.Leu208Ile)
n.978C>A
17g.30956346C>GCA398979226ADAP2c.988C>G (p.Leu330Val)
n.408C>G
n.422C>G
c.1006C>G (p.Leu336Val)
c.904C>G (p.Leu302Val)
c.357C>G
c.280C>G (p.Leu94Val)
c.*587C>G (n.*587C>G)
c.943C>G (p.Leu315Val)
c.1003C>G (p.Leu335Val)
c.985C>G (p.Leu329Val)
n.1187C>G
c.622C>G (p.Leu208Val)
n.978C>G
17g.30956346C>TCA398979225ADAP2c.988C>T (p.Leu330Phe)
n.408C>T
n.422C>T
c.1006C>T (p.Leu336Phe)
c.904C>T (p.Leu302Phe)
c.357C>T
c.280C>T (p.Leu94Phe)
c.*587C>T (n.*587C>T)
c.943C>T (p.Leu315Phe)
c.1003C>T (p.Leu335Phe)
c.985C>T (p.Leu329Phe)
n.1187C>T
c.622C>T (p.Leu208Phe)
n.978C>T
17g.30956347T>ACA398979227ADAP2c.989T>A (p.Leu330His)
n.409T>A
n.423T>A
c.1007T>A (p.Leu336His)
c.905T>A (p.Leu302His)
c.358T>A
c.281T>A (p.Leu94His)
c.*588T>A (n.*588T>A)
c.944T>A (p.Leu315His)
c.1004T>A (p.Leu335His)
c.986T>A (p.Leu329His)
n.1188T>A
c.623T>A (p.Leu208His)
n.979T>A
17g.30956347T>CCA398979229ADAP2c.989T>C (p.Leu330Pro)
n.409T>C
n.423T>C
c.1007T>C (p.Leu336Pro)
c.905T>C (p.Leu302Pro)
c.358T>C
c.281T>C (p.Leu94Pro)
c.*588T>C (n.*588T>C)
c.944T>C (p.Leu315Pro)
c.1004T>C (p.Leu335Pro)
c.986T>C (p.Leu329Pro)
n.1188T>C
c.623T>C (p.Leu208Pro)
n.979T>C
gnomAD v4
17g.30956347T>GCA398979230ADAP2c.989T>G (p.Leu330Arg)
n.409T>G
n.423T>G
c.1007T>G (p.Leu336Arg)
c.905T>G (p.Leu302Arg)
c.358T>G
c.281T>G (p.Leu94Arg)
c.*588T>G (n.*588T>G)
c.944T>G (p.Leu315Arg)
c.1004T>G (p.Leu335Arg)
c.986T>G (p.Leu329Arg)
n.1188T>G
c.623T>G (p.Leu208Arg)
n.979T>G
17g.30956348C>ACA499226425ADAP2c.990C>A (p.Leu330=)
n.410C>A
n.424C>A
c.1008C>A (p.Leu336=)
c.906C>A (p.Leu302=)
c.359C>A
c.282C>A (p.Leu94=)
c.*589C>A (n.*589C>A)
c.945C>A (p.Leu315=)
c.1005C>A (p.Leu335=)
c.987C>A (p.Leu329=)
n.1189C>A
c.624C>A (p.Leu208=)
n.980C>A
17g.30956348C=CA2255437282ADAP2c.990C= (p.Leu330=)
n.410C=
n.424C=
c.1008C= (p.Leu336=)
c.906C= (p.Leu302=)
c.359C=
c.282C= (p.Leu94=)
c.*589C= (n.*589C=)
c.945C= (p.Leu315=)
c.1005C= (p.Leu335=)
c.987C= (p.Leu329=)
n.1189C=
c.624C= (p.Leu208=)
n.980C=
17g.30956348C>GCA499226427ADAP2c.990C>G (p.Leu330=)
n.410C>G
n.424C>G
c.1008C>G (p.Leu336=)
c.906C>G (p.Leu302=)
c.359C>G
c.282C>G (p.Leu94=)
c.*589C>G (n.*589C>G)
c.945C>G (p.Leu315=)
c.1005C>G (p.Leu335=)
c.987C>G (p.Leu329=)
n.1189C>G
c.624C>G (p.Leu208=)
n.980C>G
17g.30956348C>TCA8485060ADAP2c.990C>T (p.Leu330=)
n.410C>T
n.424C>T
c.1008C>T (p.Leu336=)
c.906C>T (p.Leu302=)
c.359C>T
c.282C>T (p.Leu94=)
c.*589C>T (n.*589C>T)
c.945C>T (p.Leu315=)
c.1005C>T (p.Leu335=)
c.987C>T (p.Leu329=)
n.1189C>T
c.624C>T (p.Leu208=)
n.980C>T
dbSNP ExAC gnomAD v2 gnomAD v4
17g.30956349A>CCA398979233ADAP2c.991A>C (p.Thr331Pro)
n.411A>C
n.425A>C
c.1009A>C (p.Thr337Pro)
c.907A>C (p.Thr303Pro)
c.360A>C
c.283A>C (p.Thr95Pro)
c.*590A>C (n.*590A>C)
c.946A>C (p.Thr316Pro)
c.1006A>C (p.Thr336Pro)
c.988A>C (p.Thr330Pro)
n.1190A>C
c.625A>C (p.Thr209Pro)
n.981A>C
17g.30956349A>GCA398979235ADAP2c.991A>G (p.Thr331Ala)
n.411A>G
n.425A>G
c.1009A>G (p.Thr337Ala)
c.907A>G (p.Thr303Ala)
c.360A>G
c.283A>G (p.Thr95Ala)
c.*590A>G (n.*590A>G)
c.946A>G (p.Thr316Ala)
c.1006A>G (p.Thr336Ala)
c.988A>G (p.Thr330Ala)
n.1190A>G
c.625A>G (p.Thr209Ala)
n.981A>G
17g.30956349A>TCA398979236ADAP2c.991A>T (p.Thr331Ser)
n.411A>T
n.425A>T
c.1009A>T (p.Thr337Ser)
c.907A>T (p.Thr303Ser)
c.360A>T
c.283A>T (p.Thr95Ser)
c.*590A>T (n.*590A>T)
c.946A>T (p.Thr316Ser)
c.1006A>T (p.Thr336Ser)
c.988A>T (p.Thr330Ser)
n.1190A>T
c.625A>T (p.Thr209Ser)
n.981A>T
17g.30956350C>ACA398979239ADAP2c.992C>A (p.Thr331Asn)
n.412C>A
n.426C>A
c.1010C>A (p.Thr337Asn)
c.908C>A (p.Thr303Asn)
c.361C>A
c.284C>A (p.Thr95Asn)
c.*591C>A (n.*591C>A)
c.947C>A (p.Thr316Asn)
c.1007C>A (p.Thr336Asn)
c.989C>A (p.Thr330Asn)
n.1191C>A
c.626C>A (p.Thr209Asn)
n.982C>A
17g.30956350C>GCA398979240ADAP2c.992C>G (p.Thr331Ser)
n.412C>G
n.426C>G
c.1010C>G (p.Thr337Ser)
c.908C>G (p.Thr303Ser)
c.361C>G
c.284C>G (p.Thr95Ser)
c.*591C>G (n.*591C>G)
c.947C>G (p.Thr316Ser)
c.1007C>G (p.Thr336Ser)
c.989C>G (p.Thr330Ser)
n.1191C>G
c.626C>G (p.Thr209Ser)
n.982C>G
17g.30956350C>TCA398979242ADAP2c.992C>T (p.Thr331Ile)
n.412C>T
n.426C>T
c.1010C>T (p.Thr337Ile)
c.908C>T (p.Thr303Ile)
c.361C>T
c.284C>T (p.Thr95Ile)
c.*591C>T (n.*591C>T)
c.947C>T (p.Thr316Ile)
c.1007C>T (p.Thr336Ile)
c.989C>T (p.Thr330Ile)
n.1191C>T
c.626C>T (p.Thr209Ile)
n.982C>T
17g.30956351C>ACA499226434ADAP2c.993C>A (p.Thr331=)
n.413C>A
n.427C>A
c.1011C>A (p.Thr337=)
c.909C>A (p.Thr303=)
c.362C>A
c.285C>A (p.Thr95=)
c.*592C>A (n.*592C>A)
c.948C>A (p.Thr316=)
c.1008C>A (p.Thr336=)
c.990C>A (p.Thr330=)
n.1192C>A
c.627C>A (p.Thr209=)
n.983C>A
17g.30956351C=CA2255437283ADAP2c.993C= (p.Thr331=)
n.413C=
n.427C=
c.1011C= (p.Thr337=)
c.909C= (p.Thr303=)
c.362C=
c.285C= (p.Thr95=)
c.*592C= (n.*592C=)
c.948C= (p.Thr316=)
c.1008C= (p.Thr336=)
c.990C= (p.Thr330=)
n.1192C=
c.627C= (p.Thr209=)
n.983C=
17g.30956351C>GCA499226437ADAP2c.993C>G (p.Thr331=)
n.413C>G
n.427C>G
c.1011C>G (p.Thr337=)
c.909C>G (p.Thr303=)
c.362C>G
c.285C>G (p.Thr95=)
c.*592C>G (n.*592C>G)
c.948C>G (p.Thr316=)
c.1008C>G (p.Thr336=)
c.990C>G (p.Thr330=)
n.1192C>G
c.627C>G (p.Thr209=)
n.983C>G
17g.30956351C>TCA8485061ADAP2c.993C>T (p.Thr331=)
n.413C>T
n.427C>T
c.1011C>T (p.Thr337=)
c.909C>T (p.Thr303=)
c.362C>T
c.285C>T (p.Thr95=)
c.*592C>T (n.*592C>T)
c.948C>T (p.Thr316=)
c.1008C>T (p.Thr336=)
c.990C>T (p.Thr330=)
n.1192C>T
c.627C>T (p.Thr209=)
n.983C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.30956352A=CA2255437284ADAP2c.994A= (p.Ile332=)
n.414A=
n.428A=
c.1012A= (p.Ile338=)
c.910A= (p.Ile304=)
c.363A=
c.286A= (p.Ile96=)
c.*593A= (n.*593A=)
c.949A= (p.Ile317=)
c.1009A= (p.Ile337=)
c.991A= (p.Ile331=)
n.1193A=
c.628A= (p.Ile210=)
n.984A=
17g.30956352A>CCA398979247ADAP2c.994A>C (p.Ile332Leu)
n.414A>C
n.428A>C
c.1012A>C (p.Ile338Leu)
c.910A>C (p.Ile304Leu)
c.363A>C
c.286A>C (p.Ile96Leu)
c.*593A>C (n.*593A>C)
c.949A>C (p.Ile317Leu)
c.1009A>C (p.Ile337Leu)
c.991A>C (p.Ile331Leu)
n.1193A>C
c.628A>C (p.Ile210Leu)
n.984A>C
17g.30956352A>GCA8485062ADAP2c.994A>G (p.Ile332Val)
n.414A>G
n.428A>G
c.1012A>G (p.Ile338Val)
c.910A>G (p.Ile304Val)
c.363A>G
c.286A>G (p.Ile96Val)
c.*593A>G (n.*593A>G)
c.949A>G (p.Ile317Val)
c.1009A>G (p.Ile337Val)
c.991A>G (p.Ile331Val)
n.1193A>G
c.628A>G (p.Ile210Val)
n.984A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.30956352A>TCA398979245ADAP2c.994A>T (p.Ile332Phe)
n.414A>T
n.428A>T
c.1012A>T (p.Ile338Phe)
c.910A>T (p.Ile304Phe)
c.363A>T
c.286A>T (p.Ile96Phe)
c.*593A>T (n.*593A>T)
c.949A>T (p.Ile317Phe)
c.1009A>T (p.Ile337Phe)
c.991A>T (p.Ile331Phe)
n.1193A>T
c.628A>T (p.Ile210Phe)
n.984A>T
17g.30956353T>ACA398979253ADAP2c.995T>A (p.Ile332Asn)
n.415T>A
n.429T>A
c.1013T>A (p.Ile338Asn)
c.911T>A (p.Ile304Asn)
c.364T>A
c.287T>A (p.Ile96Asn)
c.*594T>A (n.*594T>A)
c.950T>A (p.Ile317Asn)
c.1010T>A (p.Ile337Asn)
c.992T>A (p.Ile331Asn)
n.1194T>A
c.629T>A (p.Ile210Asn)
n.985T>A
17g.30956353T>CCA398979250ADAP2c.995T>C (p.Ile332Thr)
n.415T>C
n.429T>C
c.1013T>C (p.Ile338Thr)
c.911T>C (p.Ile304Thr)
c.364T>C
c.287T>C (p.Ile96Thr)
c.*594T>C (n.*594T>C)
c.950T>C (p.Ile317Thr)
c.1010T>C (p.Ile337Thr)
c.992T>C (p.Ile331Thr)
n.1194T>C
c.629T>C (p.Ile210Thr)
n.985T>C
gnomAD v4
17g.30956353T>GCA398979251ADAP2c.995T>G (p.Ile332Ser)
n.415T>G
n.429T>G
c.1013T>G (p.Ile338Ser)
c.911T>G (p.Ile304Ser)
c.364T>G
c.287T>G (p.Ile96Ser)
c.*594T>G (n.*594T>G)
c.950T>G (p.Ile317Ser)
c.1010T>G (p.Ile337Ser)
c.992T>G (p.Ile331Ser)
n.1194T>G
c.629T>G (p.Ile210Ser)
n.985T>G
17g.30956354T>ACA499226446ADAP2c.996T>A (p.Ile332=)
n.416T>A
n.430T>A
c.1014T>A (p.Ile338=)
c.912T>A (p.Ile304=)
c.365T>A
c.288T>A (p.Ile96=)
c.*595T>A (n.*595T>A)
c.951T>A (p.Ile317=)
c.1011T>A (p.Ile337=)
c.993T>A (p.Ile331=)
n.1195T>A
c.630T>A (p.Ile210=)
n.986T>A
17g.30956354T>CCA499226449ADAP2c.996T>C (p.Ile332=)
n.416T>C
n.430T>C
c.1014T>C (p.Ile338=)
c.912T>C (p.Ile304=)
c.365T>C
c.288T>C (p.Ile96=)
c.*595T>C (n.*595T>C)
c.951T>C (p.Ile317=)
c.1011T>C (p.Ile337=)
c.993T>C (p.Ile331=)
n.1195T>C
c.630T>C (p.Ile210=)
n.986T>C
17g.30956354T>GCA398979255ADAP2c.996T>G (p.Ile332Met)
n.416T>G
n.430T>G
c.1014T>G (p.Ile338Met)
c.912T>G (p.Ile304Met)
c.365T>G
c.288T>G (p.Ile96Met)
c.*595T>G (n.*595T>G)
c.951T>G (p.Ile317Met)
c.1011T>G (p.Ile337Met)
c.993T>G (p.Ile331Met)
n.1195T>G
c.630T>G (p.Ile210Met)
n.986T>G
gnomAD v4
17g.30956355G>ACA398979257ADAP2c.997G>A (p.Val333Ile)
n.417G>A
n.431G>A
c.1015G>A (p.Val339Ile)
c.913G>A (p.Val305Ile)
c.366G>A
c.289G>A (p.Val97Ile)
c.*596G>A (n.*596G>A)
c.952G>A (p.Val318Ile)
c.1012G>A (p.Val338Ile)
c.994G>A (p.Val332Ile)
n.1196G>A
c.631G>A (p.Val211Ile)
n.987G>A
17g.30956355G>CCA398979259ADAP2c.997G>C (p.Val333Leu)
n.417G>C
n.431G>C
c.1015G>C (p.Val339Leu)
c.913G>C (p.Val305Leu)
c.366G>C
c.289G>C (p.Val97Leu)
c.*596G>C (n.*596G>C)
c.952G>C (p.Val318Leu)
c.1012G>C (p.Val338Leu)
c.994G>C (p.Val332Leu)
n.1196G>C
c.631G>C (p.Val211Leu)
n.987G>C
17g.30956355G>TCA398979261ADAP2c.997G>T (p.Val333Phe)
n.417G>T
n.431G>T
c.1015G>T (p.Val339Phe)
c.913G>T (p.Val305Phe)
c.366G>T
c.289G>T (p.Val97Phe)
c.*596G>T (n.*596G>T)
c.952G>T (p.Val318Phe)
c.1012G>T (p.Val338Phe)
c.994G>T (p.Val332Phe)
n.1196G>T
c.631G>T (p.Val211Phe)
n.987G>T
17g.30956356T>ACA398979263ADAP2c.998T>A (p.Val333Asp)
n.418T>A
n.432T>A
c.1016T>A (p.Val339Asp)
c.914T>A (p.Val305Asp)
c.367T>A
c.290T>A (p.Val97Asp)
c.*597T>A (n.*597T>A)
c.953T>A (p.Val318Asp)
c.1013T>A (p.Val338Asp)
c.995T>A (p.Val332Asp)
n.1197T>A
c.632T>A (p.Val211Asp)
n.988T>A
17g.30956356T>CCA398979265ADAP2c.998T>C (p.Val333Ala)
n.418T>C
n.432T>C
c.1016T>C (p.Val339Ala)
c.914T>C (p.Val305Ala)
c.367T>C
c.290T>C (p.Val97Ala)
c.*597T>C (n.*597T>C)
c.953T>C (p.Val318Ala)
c.1013T>C (p.Val338Ala)
c.995T>C (p.Val332Ala)
n.1197T>C
c.632T>C (p.Val211Ala)
n.988T>C
17g.30956356T>GCA398979267ADAP2c.998T>G (p.Val333Gly)
n.418T>G
n.432T>G
c.1016T>G (p.Val339Gly)
c.914T>G (p.Val305Gly)
c.367T>G
c.290T>G (p.Val97Gly)
c.*597T>G (n.*597T>G)
c.953T>G (p.Val318Gly)
c.1013T>G (p.Val338Gly)
c.995T>G (p.Val332Gly)
n.1197T>G
c.632T>G (p.Val211Gly)
n.988T>G
17g.30956357C>ACA499226456ADAP2c.999C>A (p.Val333=)
n.419C>A
n.433C>A
c.1017C>A (p.Val339=)
c.915C>A (p.Val305=)
c.368C>A
c.291C>A (p.Val97=)
c.*598C>A (n.*598C>A)
c.954C>A (p.Val318=)
c.1014C>A (p.Val338=)
c.996C>A (p.Val332=)
n.1198C>A
c.633C>A (p.Val211=)
n.989C>A
dbSNP
17g.30956357C=CA2255437285ADAP2c.999C= (p.Val333=)
n.419C=
n.433C=
c.1017C= (p.Val339=)
c.915C= (p.Val305=)
c.368C=
c.291C= (p.Val97=)
c.*598C= (n.*598C=)
c.954C= (p.Val318=)
c.1014C= (p.Val338=)
c.996C= (p.Val332=)
n.1198C=
c.633C= (p.Val211=)
n.989C=
17g.30956357C>GCA499226459ADAP2c.999C>G (p.Val333=)
n.419C>G
n.433C>G
c.1017C>G (p.Val339=)
c.915C>G (p.Val305=)
c.368C>G
c.291C>G (p.Val97=)
c.*598C>G (n.*598C>G)
c.954C>G (p.Val318=)
c.1014C>G (p.Val338=)
c.996C>G (p.Val332=)
n.1198C>G
c.633C>G (p.Val211=)
n.989C>G
17g.30956357C>TCA499226461ADAP2c.999C>T (p.Val333=)
n.419C>T
n.433C>T
c.1017C>T (p.Val339=)
c.915C>T (p.Val305=)
c.368C>T
c.291C>T (p.Val97=)
c.*598C>T (n.*598C>T)
c.954C>T (p.Val318=)
c.1014C>T (p.Val338=)
c.996C>T (p.Val332=)
n.1198C>T
c.633C>T (p.Val211=)
n.989C>T
17g.30956358A>CCA398979269ADAP2c.1000A>C (p.Thr334Pro)
n.420A>C
n.434A>C
c.1018A>C (p.Thr340Pro)
c.916A>C (p.Thr306Pro)
c.369A>C
c.292A>C (p.Thr98Pro)
c.*599A>C (n.*599A>C)
c.955A>C (p.Thr319Pro)
c.1015A>C (p.Thr339Pro)
c.997A>C (p.Thr333Pro)
n.1199A>C
c.634A>C (p.Thr212Pro)
n.990A>C
17g.30956358A>GCA398979271ADAP2c.1000A>G (p.Thr334Ala)
n.420A>G
n.434A>G
c.1018A>G (p.Thr340Ala)
c.916A>G (p.Thr306Ala)
c.369A>G
c.292A>G (p.Thr98Ala)
c.*599A>G (n.*599A>G)
c.955A>G (p.Thr319Ala)
c.1015A>G (p.Thr339Ala)
c.997A>G (p.Thr333Ala)
n.1199A>G
c.634A>G (p.Thr212Ala)
n.990A>G
17g.30956358A>TCA398979273ADAP2c.1000A>T (p.Thr334Ser)
n.420A>T
n.434A>T
c.1018A>T (p.Thr340Ser)
c.916A>T (p.Thr306Ser)
c.369A>T
c.292A>T (p.Thr98Ser)
c.*599A>T (n.*599A>T)
c.955A>T (p.Thr319Ser)
c.1015A>T (p.Thr339Ser)
c.997A>T (p.Thr333Ser)
n.1199A>T
c.634A>T (p.Thr212Ser)
n.990A>T

Number of alleles fetched