Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.169552610_169552612delCA2649036050F5c.1245_1247del (p.Glu415del)
c.834_836del (p.Glu278del)
 gnomAD v4
1g.169552607C>ACA343128100F5c.1246G>T (p.Asp416Tyr)
c.835G>T (p.Asp279Tyr)
1g.169552607C>GCA343128104F5c.1246G>C (p.Asp416His)
c.835G>C (p.Asp279His)
1g.169552607C>TCA343128107F5c.1246G>A (p.Asp416Asn)
c.835G>A (p.Asp279Asn)
1g.169552607_169552608delinsCTCA1206146820F5c.1245_1246delinsAG (p.Glu415=)
c.834_835delinsAG (p.Glu278=)
1g.169552608T>ACA343128111F5c.1245A>T (p.Glu415Asp)
c.834A>T (p.Glu278Asp)
1g.169552608T>CCA421732521F5c.1245A>G (p.Glu415=)
c.834A>G (p.Glu278=)
1g.169552608T>GCA343128112F5c.1245A>C (p.Glu415Asp)
c.834A>C (p.Glu278Asp)
 gnomAD v4
1g.169552609delCA527131283F5c.1245del (p.Asp416MetfsTer?)
c.834del (p.Asp279MetfsTer?)
 dbSNP gnomAD v2 gnomAD v4
1g.169552609T>ACA343128115F5c.1244A>T (p.Glu415Val)
c.833A>T (p.Glu278Val)
1g.169552609T>CCA343128116F5c.1244A>G (p.Glu415Gly)
c.833A>G (p.Glu278Gly)
1g.169552609T>GCA343128118F5c.1244A>C (p.Glu415Ala)
c.833A>C (p.Glu278Ala)
1g.169552610C>ACA343128138F5c.1243G>T (p.Glu415Ter)
c.832G>T (p.Glu278Ter)
1g.169552610C>GCA343128135F5c.1243G>C (p.Glu415Gln)
c.832G>C (p.Glu278Gln)
1g.169552610C>TCA343128123F5c.1243G>A (p.Glu415Lys)
c.832G>A (p.Glu278Lys)
1g.169552611T>ACA343128140F5c.1242A>T (p.Lys414Asn)
c.831A>T (p.Lys277Asn)
1g.169552611T>CCA1234385F5c.1242A>G (p.Lys414=)
c.831A>G (p.Lys277=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169552611T>GCA343128155F5c.1242A>C (p.Lys414Asn)
c.831A>C (p.Lys277Asn)
 gnomAD v4
1g.169552611T=CA1139773089F5c.1242A= (p.Lys414=)
c.831A= (p.Lys277=)
1g.169552612T>ACA343128163F5c.1241A>T (p.Lys414Ile)
c.830A>T (p.Lys277Ile)
1g.169552612T>CCA343128167F5c.1241A>G (p.Lys414Arg)
c.830A>G (p.Lys277Arg)
1g.169552612T>GCA343128169F5c.1241A>C (p.Lys414Thr)
c.830A>C (p.Lys277Thr)
1g.169552613T>ACA343128172F5c.1240A>T (p.Lys414Ter)
c.829A>T (p.Lys277Ter)
1g.169552613T>CCA343128176F5c.1240A>G (p.Lys414Glu)
c.829A>G (p.Lys277Glu)
1g.169552613T>GCA343128182F5c.1240A>C (p.Lys414Gln)
c.829A>C (p.Lys277Gln)
1g.169552614C>ACA343128185F5c.1239G>T (p.Met413Ile)
c.828G>T (p.Met276Ile)
1g.169552614C>GCA343128186F5c.1239G>C (p.Met413Ile)
c.828G>C (p.Met276Ile)
1g.169552614C>TCA343128188F5c.1239G>A (p.Met413Ile)
c.828G>A (p.Met276Ile)
1g.169552615A=CA1139773087F5c.1238T= (p.Met413=)
c.827T= (p.Met276=)
1g.169552615A>CCA343128202F5c.1238T>G (p.Met413Arg)
c.827T>G (p.Met276Arg)
1g.169552615A>GCA1234386F5c.1238T>C (p.Met413Thr)
c.827T>C (p.Met276Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169552615A>TCA343128198F5c.1238T>A (p.Met413Lys)
c.827T>A (p.Met276Lys)
 dbSNP
1g.169552616T>ACA343128220F5c.1237A>T (p.Met413Leu)
c.826A>T (p.Met276Leu)
1g.169552616T>CCA343128228F5c.1237A>G (p.Met413Val)
c.826A>G (p.Met276Val)
 COSMIC
1g.169552616T>GCA343128231F5c.1237A>C (p.Met413Leu)
c.826A>C (p.Met276Leu)
1g.169552616dupCA1234387F5c.1237dup (p.Met413AsnfsTer?)
c.826dup (p.Met276AsnfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169552617A>CCA343128235F5c.1236T>G (p.Asn412Lys)
c.825T>G (p.Asn275Lys)
1g.169552617A>GCA421732525F5c.1236T>C (p.Asn412=)
c.825T>C (p.Asn275=)
1g.169552617A>TCA343128238F5c.1236T>A (p.Asn412Lys)
c.825T>A (p.Asn275Lys)
1g.169552618T>ACA343128243F5c.1235A>T (p.Asn412Ile)
c.824A>T (p.Asn275Ile)
1g.169552618T>CCA343128254F5c.1235A>G (p.Asn412Ser)
c.824A>G (p.Asn275Ser)
 COSMIC
1g.169552618T>GCA343128262F5c.1235A>C (p.Asn412Thr)
c.824A>C (p.Asn275Thr)
1g.169552619T>ACA343128275F5c.1234A>T (p.Asn412Tyr)
c.823A>T (p.Asn275Tyr)
1g.169552619T>CCA1234388F5c.1234A>G (p.Asn412Asp)
c.823A>G (p.Asn275Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169552619T>GCA343128285F5c.1234A>C (p.Asn412His)
c.823A>C (p.Asn275His)
1g.169552619T=CA1206146842F5c.1234A= (p.Asn412=)
c.823A= (p.Asn275=)
1g.169552620G>ACA421732526F5c.1233C>T (p.Pro411=)
c.822C>T (p.Pro274=)
1g.169552620G>CCA421732527F5c.1233C>G (p.Pro411=)
c.822C>G (p.Pro274=)
1g.169552620G>TCA421732528F5c.1233C>A (p.Pro411=)
c.822C>A (p.Pro274=)
1g.169552622delCA2649036069F5c.1233del (p.Asn412IlefsTer2)
c.822del (p.Asn275IlefsTer2)
 gnomAD v4
1g.169552621G>ACA343128308F5c.1232C>T (p.Pro411Leu)
c.821C>T (p.Pro274Leu)
 gnomAD v4 COSMIC
1g.169552621G>CCA343128307F5c.1232C>G (p.Pro411Arg)
c.821C>G (p.Pro274Arg)
1g.169552621G>TCA343128306F5c.1232C>A (p.Pro411His)
c.821C>A (p.Pro274His)
1g.169552622G>ACA343128313F5c.1231C>T (p.Pro411Ser)
c.820C>T (p.Pro274Ser)
 gnomAD v4
1g.169552622G>CCA343128310F5c.1231C>G (p.Pro411Ala)
c.820C>G (p.Pro274Ala)
1g.169552622G>TCA343128316F5c.1231C>A (p.Pro411Thr)
c.820C>A (p.Pro274Thr)
1g.169552623A>CCA343128319F5c.1230T>G (p.Asn410Lys)
c.819T>G (p.Asn273Lys)
1g.169552623A>GCA421732529F5c.1230T>C (p.Asn410=)
c.819T>C (p.Asn273=)
1g.169552623A>TCA343128336F5c.1230T>A (p.Asn410Lys)
c.819T>A (p.Asn273Lys)
1g.169552624T>ACA343128338F5c.1229A>T (p.Asn410Ile)
c.818A>T (p.Asn273Ile)
1g.169552624T>CCA343128343F5c.1229A>G (p.Asn410Ser)
c.818A>G (p.Asn273Ser)
1g.169552624T>GCA343128346F5c.1229A>C (p.Asn410Thr)
c.818A>C (p.Asn273Thr)
1g.169552625T>ACA343128358F5c.1228A>T (p.Asn410Tyr)
c.817A>T (p.Asn273Tyr)
1g.169552625T>CCA343128364F5c.1228A>G (p.Asn410Asp)
c.817A>G (p.Asn273Asp)
1g.169552625T>GCA1234389F5c.1228A>C (p.Asn410His)
c.817A>C (p.Asn273His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169552625T=CA1143879149F5c.1228A= (p.Asn410=)
c.817A= (p.Asn273=)
1g.169552626C>ACA421732532F5c.1227G>T (p.Val409=)
c.816G>T (p.Val272=)
1g.169552626C>GCA421732531F5c.1227G>C (p.Val409=)
c.816G>C (p.Val272=)
1g.169552626C>TCA421732530F5c.1227G>A (p.Val409=)
c.816G>A (p.Val272=)
1g.169552627A=CA1206146845F5c.1226T= (p.Val409=)
c.815T= (p.Val272=)
1g.169552627A>CCA343128371F5c.1226T>G (p.Val409Gly)
c.815T>G (p.Val272Gly)
1g.169552627A>GCA343128374F5c.1226T>C (p.Val409Ala)
c.815T>C (p.Val272Ala)
 dbSNP gnomAD v3 gnomAD v4
1g.169552627A>TCA343128379F5c.1226T>A (p.Val409Glu)
c.815T>A (p.Val272Glu)
1g.169552628C>ACA343128415F5c.1225G>T (p.Val409Leu)
c.814G>T (p.Val272Leu)
1g.169552628C>GCA343128405F5c.1225G>C (p.Val409Leu)
c.814G>C (p.Val272Leu)
1g.169552628C>TCA343128398F5c.1225G>A (p.Val409Met)
c.814G>A (p.Val272Met)
1g.169552629T>ACA421732533F5c.1224A>T (p.Thr408=)
c.813A>T (p.Thr271=)
 gnomAD v4
1g.169552629T>CCA1234390F5c.1224A>G (p.Thr408=)
c.813A>G (p.Thr271=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169552629T>GCA421732534F5c.1224A>C (p.Thr408=)
c.813A>C (p.Thr271=)
1g.169552629T=CA1206146848F5c.1224A= (p.Thr408=)
c.813A= (p.Thr271=)
1g.169552630G>ACA343128440F5c.1223C>T (p.Thr408Ile)
c.812C>T (p.Thr271Ile)
 dbSNP gnomAD v2 gnomAD v4
1g.169552630G>CCA343128441F5c.1223C>G (p.Thr408Arg)
c.812C>G (p.Thr271Arg)
1g.169552630G=CA1206146850F5c.1223C= (p.Thr408=)
c.812C= (p.Thr271=)
1g.169552630G>TCA343128448F5c.1223C>A (p.Thr408Lys)
c.812C>A (p.Thr271Lys)
1g.169552631T>ACA343128453F5c.1222A>T (p.Thr408Ser)
c.811A>T (p.Thr271Ser)
1g.169552631T>CCA343128462F5c.1222A>G (p.Thr408Ala)
c.811A>G (p.Thr271Ala)
 gnomAD v4
1g.169552631T>GCA343128465F5c.1222A>C (p.Thr408Pro)
c.811A>C (p.Thr271Pro)
1g.169552632A=CA1206146852F5c.1221T= (p.His407=)
c.810T= (p.His270=)
1g.169552632A>CCA343128468F5c.1221T>G (p.His407Gln)
c.810T>G (p.His270Gln)
1g.169552632A>GCA421732535F5c.1221T>C (p.His407=)
c.810T>C (p.His270=)
 dbSNP
1g.169552632A>TCA343128475F5c.1221T>A (p.His407Gln)
c.810T>A (p.His270Gln)
1g.169552633T>ACA343128478F5c.1220A>T (p.His407Leu)
c.809A>T (p.His270Leu)
1g.169552633T>CCA343128482F5c.1220A>G (p.His407Arg)
c.809A>G (p.His270Arg)
1g.169552633T>GCA343128484F5c.1220A>C (p.His407Pro)
c.809A>C (p.His270Pro)
1g.169552634G>ACA343128503F5c.1219C>T (p.His407Tyr)
c.808C>T (p.His270Tyr)
 gnomAD v3 gnomAD v4
1g.169552634G>CCA343128507F5c.1219C>G (p.His407Asp)
c.808C>G (p.His270Asp)
1g.169552634G>TCA343128498F5c.1219C>A (p.His407Asn)
c.808C>A (p.His270Asn)
 COSMIC
1g.169552635T>ACA343128512F5c.1218A>T (p.Lys406Asn)
c.807A>T (p.Lys269Asn)
1g.169552635T>CCA421732536F5c.1218A>G (p.Lys406=)
c.807A>G (p.Lys269=)
 gnomAD v4
1g.169552635T>GCA343128515F5c.1218A>C (p.Lys406Asn)
c.807A>C (p.Lys269Asn)
1g.169552636T>ACA343128526F5c.1217A>T (p.Lys406Ile)
c.806A>T (p.Lys269Ile)
1g.169552636T>CCA343128530F5c.1217A>G (p.Lys406Arg)
c.806A>G (p.Lys269Arg)
1g.169552636T>GCA343128532F5c.1217A>C (p.Lys406Thr)
c.806A>C (p.Lys269Thr)
1g.169552637T>ACA343128533F5c.1216A>T (p.Lys406Ter)
c.805A>T (p.Lys269Ter)
1g.169552637T>CCA343128534F5c.1216A>G (p.Lys406Glu)
c.805A>G (p.Lys269Glu)
1g.169552637T>GCA343128535F5c.1216A>C (p.Lys406Gln)
c.805A>C (p.Lys269Gln)
1g.169552638G>ACA421732537F5c.1215C>T (p.Thr405=)
c.804C>T (p.Thr268=)
1g.169552638G>CCA421732538F5c.1215C>G (p.Thr405=)
c.804C>G (p.Thr268=)
1g.169552638G>TCA421732539F5c.1215C>A (p.Thr405=)
c.804C>A (p.Thr268=)
1g.169552639G>ACA343128536F5c.1214C>T (p.Thr405Ile)
c.803C>T (p.Thr268Ile)
 dbSNP gnomAD v2 gnomAD v4
1g.169552639G>CCA343128538F5c.1214C>G (p.Thr405Ser)
c.803C>G (p.Thr268Ser)
1g.169552639G=CA1206146854F5c.1214C= (p.Thr405=)
c.803C= (p.Thr268=)
1g.169552639G>TCA343128540F5c.1214C>A (p.Thr405Asn)
c.803C>A (p.Thr268Asn)
 dbSNP
1g.169552640T>ACA343128544F5c.1213A>T (p.Thr405Ser)
c.802A>T (p.Thr268Ser)
 ClinVar gnomAD v4
1g.169552640T>CCA343128550F5c.1213A>G (p.Thr405Ala)
c.802A>G (p.Thr268Ala)
1g.169552640T>GCA343128553F5c.1213A>C (p.Thr405Pro)
c.802A>C (p.Thr268Pro)
1g.169552641G>ACA421732540F5c.1212C>T (p.Phe404=)
c.801C>T (p.Phe267=)
1g.169552641G>CCA343128555F5c.1212C>G (p.Phe404Leu)
c.801C>G (p.Phe267Leu)
1g.169552641G>TCA343128558F5c.1212C>A (p.Phe404Leu)
c.801C>A (p.Phe267Leu)
1g.169552642A>CCA343128560F5c.1211T>G (p.Phe404Cys)
c.800T>G (p.Phe267Cys)
1g.169552642A>GCA343128561F5c.1211T>C (p.Phe404Ser)
c.800T>C (p.Phe267Ser)
1g.169552642A>TCA343128562F5c.1211T>A (p.Phe404Tyr)
c.800T>A (p.Phe267Tyr)
1g.169552643A>CCA343128563F5c.1210T>G (p.Phe404Val)
c.799T>G (p.Phe267Val)
1g.169552643A>GCA343128564F5c.1210T>C (p.Phe404Leu)
c.799T>C (p.Phe267Leu)
1g.169552643A>TCA343128567F5c.1210T>A (p.Phe404Ile)
c.799T>A (p.Phe267Ile)
1g.169552644G>ACA421732543F5c.1209C>T (p.Ser403=)
c.798C>T (p.Ser266=)
1g.169552644G>CCA421732542F5c.1209C>G (p.Ser403=)
c.798C>G (p.Ser266=)
1g.169552644G>TCA421732541F5c.1209C>A (p.Ser403=)
c.798C>A (p.Ser266=)
1g.169552645G>ACA343128574F5c.1208C>T (p.Ser403Phe)
c.797C>T (p.Ser266Phe)
1g.169552645G>CCA343128575F5c.1208C>G (p.Ser403Cys)
c.797C>G (p.Ser266Cys)
1g.169552645G>TCA343128579F5c.1208C>A (p.Ser403Tyr)
c.797C>A (p.Ser266Tyr)
 COSMIC
1g.169552646A=CA1206146858F5c.1207T= (p.Ser403=)
c.796T= (p.Ser266=)
1g.169552646A>CCA343128581F5c.1207T>G (p.Ser403Ala)
c.796T>G (p.Ser266Ala)
1g.169552646A>GCA343128582F5c.1207T>C (p.Ser403Pro)
c.796T>C (p.Ser266Pro)
 dbSNP gnomAD v4
1g.169552646A>TCA343128584F5c.1207T>A (p.Ser403Thr)
c.796T>A (p.Ser266Thr)
1g.169552647C>ACA343128585F5c.1206G>T (p.Glu402Asp)
c.795G>T (p.Glu265Asp)
1g.169552647C>GCA343128587F5c.1206G>C (p.Glu402Asp)
c.795G>C (p.Glu265Asp)
1g.169552647C>TCA421732544F5c.1206G>A (p.Glu402=)
c.795G>A (p.Glu265=)
1g.169552648T>ACA343128591F5c.1205A>T (p.Glu402Val)
c.794A>T (p.Glu265Val)
1g.169552648T>CCA343128593F5c.1205A>G (p.Glu402Gly)
c.794A>G (p.Glu265Gly)
1g.169552648T>GCA343128589F5c.1205A>C (p.Glu402Ala)
c.794A>C (p.Glu265Ala)
1g.169552649C>ACA343128594F5c.1204G>T (p.Glu402Ter)
c.793G>T (p.Glu265Ter)
1g.169552649C=CA1206146862F5c.1204G= (p.Glu402=)
c.793G= (p.Glu265=)
1g.169552649C>GCA343128596F5c.1204G>C (p.Glu402Gln)
c.793G>C (p.Glu265Gln)
1g.169552649C>TCA343128595F5c.1204G>A (p.Glu402Lys)
c.793G>A (p.Glu265Lys)
 dbSNP
1g.169552650A>CCA343128598F5c.1203T>G (p.Asp401Glu)
c.792T>G (p.Asp264Glu)
 gnomAD v4
1g.169552650A>GCA421732545F5c.1203T>C (p.Asp401=)
c.792T>C (p.Asp264=)
1g.169552650A>TCA343128602F5c.1203T>A (p.Asp401Glu)
c.792T>A (p.Asp264Glu)
1g.169552651T>ACA343128605F5c.1202A>T (p.Asp401Val)
c.791A>T (p.Asp264Val)
1g.169552651T>CCA343128607F5c.1202A>G (p.Asp401Gly)
c.791A>G (p.Asp264Gly)
 gnomAD v4
1g.169552651T>GCA343128608F5c.1202A>C (p.Asp401Ala)
c.791A>C (p.Asp264Ala)
1g.169552652C>ACA343128610F5c.1201G>T (p.Asp401Tyr)
c.790G>T (p.Asp264Tyr)
1g.169552652C>GCA343128613F5c.1201G>C (p.Asp401His)
c.790G>C (p.Asp264His)
 gnomAD v4
1g.169552652C>TCA343128615F5c.1201G>A (p.Asp401Asn)
c.790G>A (p.Asp264Asn)
1g.169552653T>ACA343128620F5c.1200A>T (p.Glu400Asp)
c.789A>T (p.Glu263Asp)
1g.169552653T>CCA421732546F5c.1200A>G (p.Glu400=)
c.789A>G (p.Glu263=)
1g.169552653T>GCA343128619F5c.1200A>C (p.Glu400Asp)
c.789A>C (p.Glu263Asp)
1g.169552654T>ACA1234391F5c.1199A>T (p.Glu400Val)
c.788A>T (p.Glu263Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169552654T>CCA343128628F5c.1199A>G (p.Glu400Gly)
c.788A>G (p.Glu263Gly)
1g.169552654T>GCA343128630F5c.1199A>C (p.Glu400Ala)
c.788A>C (p.Glu263Ala)
1g.169552654T=CA1206146864F5c.1199A= (p.Glu400=)
c.788A= (p.Glu263=)
1g.169552655C>ACA343128634F5c.1198G>T (p.Glu400Ter)
c.787G>T (p.Glu263Ter)
1g.169552655C=CA1206146874F5c.1198G= (p.Glu400=)
c.787G= (p.Glu263=)
1g.169552655C>GCA343128636F5c.1198G>C (p.Glu400Gln)
c.787G>C (p.Glu263Gln)
1g.169552655C>TCA1234393F5c.1198G>A (p.Glu400Lys)
c.787G>A (p.Glu263Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.169552655_169552664delinsCGTACTGTGTCA1206146871F5c.1189_1198delinsACACAGTACG (p.Thr397=)
c.778_787delinsACACAGTACG (p.Thr260=)
1g.169552656G>ACA421732547F5c.1197C>T (p.Tyr399=)
c.786C>T (p.Tyr262=)
 ClinVar dbSNP gnomAD v4
1g.169552656G>CCA343128643F5c.1197C>G (p.Tyr399Ter)
c.786C>G (p.Tyr262Ter)
1g.169552656G=CA1206146884F5c.1197C= (p.Tyr399=)
c.786C= (p.Tyr262=)
1g.169552656G>TCA343128656F5c.1197C>A (p.Tyr399Ter)
c.786C>A (p.Tyr262Ter)
1g.169552660_169552668delCA1234392F5c.1189_1197del (p.Thr397_Tyr399del)
c.778_786del (p.Thr260_Tyr262del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.169552657T>ACA343128661F5c.1196A>T (p.Tyr399Phe)
c.785A>T (p.Tyr262Phe)
1g.169552657T>CCA343128663F5c.1196A>G (p.Tyr399Cys)
c.785A>G (p.Tyr262Cys)
1g.169552657T>GCA343128666F5c.1196A>C (p.Tyr399Ser)
c.785A>C (p.Tyr262Ser)
1g.169552658A=CA1206146892F5c.1195T= (p.Tyr399=)
c.784T= (p.Tyr262=)
1g.169552658A>CCA343128668F5c.1195T>G (p.Tyr399Asp)
c.784T>G (p.Tyr262Asp)
1g.169552658A>GCA1234394F5c.1195T>C (p.Tyr399His)
c.784T>C (p.Tyr262His)
 dbSNP ExAC gnomAD v2
1g.169552658A>TCA343128673F5c.1195T>A (p.Tyr399Asn)
c.784T>A (p.Tyr262Asn)
 dbSNP
1g.169552659C>ACA343128674F5c.1194G>T (p.Gln398His)
c.783G>T (p.Gln261His)
1g.169552659C=CA1206146895F5c.1194G= (p.Gln398=)
c.783G= (p.Gln261=)
1g.169552659C>GCA343128677F5c.1194G>C (p.Gln398His)
c.783G>C (p.Gln261His)
1g.169552659C>TCA421732548F5c.1194G>A (p.Gln398=)
c.783G>A (p.Gln261=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169552660T>ACA343128681F5c.1193A>T (p.Gln398Leu)
c.782A>T (p.Gln261Leu)
1g.169552660T>CCA343128682F5c.1193A>G (p.Gln398Arg)
c.782A>G (p.Gln261Arg)
1g.169552660T>GCA343128683F5c.1193A>C (p.Gln398Pro)
c.782A>C (p.Gln261Pro)
 gnomAD v4
1g.169552661G>ACA343128684F5c.1192C>T (p.Gln398Ter)
c.781C>T (p.Gln261Ter)
 gnomAD v4
1g.169552661G>CCA343128688F5c.1192C>G (p.Gln398Glu)
c.781C>G (p.Gln261Glu)
 dbSNP gnomAD v2 gnomAD v4
1g.169552661G=CA1206146897F5c.1192C= (p.Gln398=)
c.781C= (p.Gln261=)
1g.169552661G>TCA343128686F5c.1192C>A (p.Gln398Lys)
c.781C>A (p.Gln261Lys)
1g.169552662T>ACA421732549F5c.1191A>T (p.Thr397=)
c.780A>T (p.Thr260=)
1g.169552662T>CCA421732550F5c.1191A>G (p.Thr397=)
c.780A>G (p.Thr260=)
 gnomAD v4
1g.169552662T>GCA421732551F5c.1191A>C (p.Thr397=)
c.780A>C (p.Thr260=)
 gnomAD v4
1g.169552663G>ACA343128696F5c.1190C>T (p.Thr397Ile)
c.779C>T (p.Thr260Ile)
1g.169552663G>CCA343128698F5c.1190C>G (p.Thr397Arg)
c.779C>G (p.Thr260Arg)
1g.169552663G>TCA343128700F5c.1190C>A (p.Thr397Lys)
c.779C>A (p.Thr260Lys)
1g.169552664T>ACA343128704F5c.1189A>T (p.Thr397Ser)
c.778A>T (p.Thr260Ser)
1g.169552664T>CCA1234395F5c.1189A>G (p.Thr397Ala)
c.778A>G (p.Thr260Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169552664T>GCA343128717F5c.1189A>C (p.Thr397Pro)
c.778A>C (p.Thr260Pro)
1g.169552664T=CA1206146899F5c.1189A= (p.Thr397=)
c.778A= (p.Thr260=)
1g.169552665G>ACA421732552F5c.1188C>T (p.Tyr396=)
c.777C>T (p.Tyr259=)
1g.169552665G>CCA343128720F5c.1188C>G (p.Tyr396Ter)
c.777C>G (p.Tyr259Ter)
1g.169552665G>TCA343128721F5c.1188C>A (p.Tyr396Ter)
c.777C>A (p.Tyr259Ter)
1g.169552666T>ACA343128724F5c.1187A>T (p.Tyr396Phe)
c.776A>T (p.Tyr259Phe)
1g.169552666T>CCA343128727F5c.1187A>G (p.Tyr396Cys)
c.776A>G (p.Tyr259Cys)
 COSMIC
1g.169552666T>GCA343128729F5c.1187A>C (p.Tyr396Ser)
c.776A>C (p.Tyr259Ser)
1g.169552667A>CCA343128737F5c.1186T>G (p.Tyr396Asp)
c.775T>G (p.Tyr259Asp)
1g.169552667A>GCA343128733F5c.1186T>C (p.Tyr396His)
c.775T>C (p.Tyr259His)
1g.169552667A>TCA343128732F5c.1186T>A (p.Tyr396Asn)
c.775T>A (p.Tyr259Asn)
1g.169552668C>ACA343128740F5c.1185G>T (p.Met395Ile)
c.774G>T (p.Met258Ile)
1g.169552668C>GCA343128742F5c.1185G>C (p.Met395Ile)
c.774G>C (p.Met258Ile)
1g.169552668C>TCA343128743F5c.1185G>A (p.Met395Ile)
c.774G>A (p.Met258Ile)
1g.169552669A>CCA343128748F5c.1184T>G (p.Met395Arg)
c.773T>G (p.Met258Arg)
1g.169552669A>GCA343128751F5c.1184T>C (p.Met395Thr)
c.773T>C (p.Met258Thr)
1g.169552669A>TCA343128753F5c.1184T>A (p.Met395Lys)
c.773T>A (p.Met258Lys)
1g.169552670T>ACA343128756F5c.1183A>T (p.Met395Leu)
c.772A>T (p.Met258Leu)
1g.169552670T>CCA343128764F5c.1183A>G (p.Met395Val)
c.772A>G (p.Met258Val)
1g.169552670T>GCA343128766F5c.1183A>C (p.Met395Leu)
c.772A>C (p.Met258Leu)
1g.169552671A>CCA421732553F5c.1182T>G (p.Val394=)
c.771T>G (p.Val257=)
1g.169552671A>GCA421732554F5c.1182T>C (p.Val394=)
c.771T>C (p.Val257=)
 gnomAD v4
1g.169552671A>TCA421732555F5c.1182T>A (p.Val394=)
c.771T>A (p.Val257=)
1g.169552672A=CA1141894938F5c.1181T= (p.Val394=)
c.770T= (p.Val257=)
1g.169552672A>CCA343128770F5c.1181T>G (p.Val394Gly)
c.770T>G (p.Val257Gly)
1g.169552672A>GCA1234396F5c.1181T>C (p.Val394Ala)
c.770T>C (p.Val257Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169552672A>TCA343128777F5c.1181T>A (p.Val394Asp)
c.770T>A (p.Val257Asp)
1g.169552673C>ACA343128790F5c.1180G>T (p.Val394Phe)
c.769G>T (p.Val257Phe)
1g.169552673C>GCA343128792F5c.1180G>C (p.Val394Leu)
c.769G>C (p.Val257Leu)
1g.169552673C>TCA343128782F5c.1180G>A (p.Val394Ile)
c.769G>A (p.Val257Ile)
1g.169552674T>ACA343128795F5c.1179A>T (p.Lys393Asn)
c.768A>T (p.Lys256Asn)
1g.169552674T>CCA421732556F5c.1179A>G (p.Lys393=)
c.768A>G (p.Lys256=)
1g.169552674T>GCA343128800F5c.1179A>C (p.Lys393Asn)
c.768A>C (p.Lys256Asn)
1g.169552675T>ACA343128803F5c.1178A>T (p.Lys393Ile)
c.767A>T (p.Lys256Ile)
1g.169552675T>CCA343128819F5c.1178A>G (p.Lys393Arg)
c.767A>G (p.Lys256Arg)
1g.169552675T>GCA343128824F5c.1178A>C (p.Lys393Thr)
c.767A>C (p.Lys256Thr)
1g.169552676T>ACA343128837F5c.1177A>T (p.Lys393Ter)
c.766A>T (p.Lys256Ter)
1g.169552676T>CCA343128831F5c.1177A>G (p.Lys393Glu)
c.766A>G (p.Lys256Glu)
1g.169552676T>GCA343128835F5c.1177A>C (p.Lys393Gln)
c.766A>C (p.Lys256Gln)
1g.169552677C>ACA343128841F5c.1176G>T (p.Lys392Asn)
c.765G>T (p.Lys255Asn)
1g.169552677C>GCA343128845F5c.1176G>C (p.Lys392Asn)
c.765G>C (p.Lys255Asn)
 COSMIC
1g.169552677C>TCA421732557F5c.1176G>A (p.Lys392=)
c.765G>A (p.Lys255=)
1g.169552678T>ACA343128848F5c.1175A>T (p.Lys392Met)
c.764A>T (p.Lys255Met)
1g.169552678T>CCA1234397F5c.1175A>G (p.Lys392Arg)
c.764A>G (p.Lys255Arg)
 dbSNP ExAC gnomAD v2
1g.169552678T>GCA343128851F5c.1175A>C (p.Lys392Thr)
c.764A>C (p.Lys255Thr)
1g.169552678T=CA1143643189F5c.1175A= (p.Lys392=)
c.764A= (p.Lys255=)
1g.169552679T>ACA343128856F5c.1174A>T (p.Lys392Ter)
c.763A>T (p.Lys255Ter)
1g.169552679T>CCA343128852F5c.1174A>G (p.Lys392Glu)
c.763A>G (p.Lys255Glu)
1g.169552679T>GCA343128854F5c.1174A>C (p.Lys392Gln)
c.763A>C (p.Lys255Gln)
1g.169552680A>CCA343128859F5c.1173T>G (p.Tyr391Ter)
c.762T>G (p.Tyr254Ter)
1g.169552680A>GCA421732558F5c.1173T>C (p.Tyr391=)
c.762T>C (p.Tyr254=)
1g.169552680A>TCA343128862F5c.1173T>A (p.Tyr391Ter)
c.762T>A (p.Tyr254Ter)
1g.169552681T>ACA343128863F5c.1172A>T (p.Tyr391Phe)
c.761A>T (p.Tyr254Phe)
1g.169552681T>CCA1234398F5c.1172A>G (p.Tyr391Cys)
c.761A>G (p.Tyr254Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169552681T>GCA343128864F5c.1172A>C (p.Tyr391Ser)
c.761A>C (p.Tyr254Ser)
1g.169552681T=CA1206146906F5c.1172A= (p.Tyr391=)
c.761A= (p.Tyr254=)
1g.169552682A>CCA343128865F5c.1171T>G (p.Tyr391Asp)
c.760T>G (p.Tyr254Asp)
1g.169552682A>GCA343128866F5c.1171T>C (p.Tyr391His)
c.760T>C (p.Tyr254His)
1g.169552682A>TCA343128867F5c.1171T>A (p.Tyr391Asn)
c.760T>A (p.Tyr254Asn)
1g.169552683A=CA1206146908F5c.1170T= (p.His390=)
c.759T= (p.His253=)
1g.169552683A>CCA343128873F5c.1170T>G (p.His390Gln)
c.759T>G (p.His253Gln)
1g.169552683A>GCA421732561F5c.1170T>C (p.His390=)
c.759T>C (p.His253=)
 dbSNP gnomAD v3 gnomAD v4
1g.169552683A>TCA343128875F5c.1170T>A (p.His390Gln)
c.759T>A (p.His253Gln)
1g.169552684T>ACA343128879F5c.1169A>T (p.His390Leu)
c.758A>T (p.His253Leu)
1g.169552684T>CCA343128882F5c.1169A>G (p.His390Arg)
c.758A>G (p.His253Arg)
 gnomAD v4
1g.169552684T>GCA343128885F5c.1169A>C (p.His390Pro)
c.758A>C (p.His253Pro)
1g.169552685G>ACA343128890F5c.1168C>T (p.His390Tyr)
c.757C>T (p.His253Tyr)
1g.169552685G>CCA343128894F5c.1168C>G (p.His390Asp)
c.757C>G (p.His253Asp)
 gnomAD v4
1g.169552685G>TCA343128892F5c.1168C>A (p.His390Asn)
c.757C>A (p.His253Asn)
 COSMIC
1g.169552686T>ACA343128896F5c.1167A>T (p.Lys389Asn)
c.756A>T (p.Lys252Asn)
1g.169552686T>CCA421732564F5c.1167A>G (p.Lys389=)
c.756A>G (p.Lys252=)
1g.169552686T>GCA343128898F5c.1167A>C (p.Lys389Asn)
c.756A>C (p.Lys252Asn)
1g.169552687T>ACA343128911F5c.1166A>T (p.Lys389Ile)
c.755A>T (p.Lys252Ile)
1g.169552687T>CCA343128913F5c.1166A>G (p.Lys389Arg)
c.755A>G (p.Lys252Arg)
1g.169552687T>GCA343128918F5c.1166A>C (p.Lys389Thr)
c.755A>C (p.Lys252Thr)
1g.169552688T>ACA343128923F5c.1165A>T (p.Lys389Ter)
c.754A>T (p.Lys252Ter)
1g.169552688T>CCA343128929F5c.1165A>G (p.Lys389Glu)
c.754A>G (p.Lys252Glu)
1g.169552688T>GCA343128932F5c.1165A>C (p.Lys389Gln)
c.754A>C (p.Lys252Gln)
1g.169552689T>ACA421732565F5c.1164A>T (p.Gly388=)
c.753A>T (p.Gly251=)
1g.169552689T>CCA421732566F5c.1164A>G (p.Gly388=)
c.753A>G (p.Gly251=)
1g.169552689T>GCA32388720F5c.1164A>C (p.Gly388=)
c.753A>C (p.Gly251=)
 dbSNP gnomAD v4
1g.169552689T=CA1206146913F5c.1164A= (p.Gly388=)
c.753A= (p.Gly251=)
1g.169552689_169552690delinsTCCA1206146911F5c.1163_1164delinsGA (p.Gly388=)
c.752_753delinsGA (p.Gly251=)
1g.169552690C>ACA343128937F5c.1163G>T (p.Gly388Val)
c.752G>T (p.Gly251Val)
1g.169552690C>GCA343128939F5c.1163G>C (p.Gly388Ala)
c.752G>C (p.Gly251Ala)
1g.169552690C>TCA343128943F5c.1163G>A (p.Gly388Glu)
c.752G>A (p.Gly251Glu)
1g.169552691delCA1234399F5c.1163del (p.Gly388GlufsTer22)
c.752del (p.Gly251GlufsTer22)
 dbSNP ExAC gnomAD v2
1g.169552691C>ACA343128975F5c.1162G>T (p.Gly388Ter)
c.751G>T (p.Gly251Ter)
1g.169552691C>GCA343128961F5c.1162G>C (p.Gly388Arg)
c.751G>C (p.Gly251Arg)
1g.169552691C>TCA343128971F5c.1162G>A (p.Gly388Arg)
c.751G>A (p.Gly251Arg)
1g.169552692A=CA1148239639F5c.1161T= (p.Ile387=)
c.750T= (p.Ile250=)
1g.169552692A>CCA343128982F5c.1161T>G (p.Ile387Met)
c.750T>G (p.Ile250Met)
1g.169552692A>GCA421732567F5c.1161T>C (p.Ile387=)
c.750T>C (p.Ile250=)
1g.169552692A>TCA1234400F5c.1161T>A (p.Ile387=)
c.750T>A (p.Ile250=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169552693A=CA1141580512F5c.1160T= (p.Ile387=)
c.749T= (p.Ile250=)
1g.169552693A>CCA343128987F5c.1160T>G (p.Ile387Ser)
c.749T>G (p.Ile250Ser)
1g.169552693A>GCA251561F5c.1160T>C (p.Ile387Thr)
c.749T>C (p.Ile250Thr)
 ClinVar dbSNP gnomAD v4
1g.169552693A>TCA343128989F5c.1160T>A (p.Ile387Asn)
c.749T>A (p.Ile250Asn)
1g.169552694T>ACA343128991F5c.1159A>T (p.Ile387Phe)
c.748A>T (p.Ile250Phe)
1g.169552694T>CCA343128995F5c.1159A>G (p.Ile387Val)
c.748A>G (p.Ile250Val)
 dbSNP gnomAD v2 gnomAD v4
1g.169552694T>GCA343128998F5c.1159A>C (p.Ile387Leu)
c.748A>C (p.Ile250Leu)
1g.169552694T=CA1206146927F5c.1159A= (p.Ile387=)
c.748A= (p.Ile250=)
1g.169552695T>ACA343129002F5c.1158A>T (p.Gln386His)
c.747A>T (p.Gln249His)
1g.169552695T>CCA1234401F5c.1158A>G (p.Gln386=)
c.747A>G (p.Gln249=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169552695T>GCA343129021F5c.1158A>C (p.Gln386His)
c.747A>C (p.Gln249His)
 gnomAD v4
1g.169552695T=CA1142252155F5c.1158A= (p.Gln386=)
c.747A= (p.Gln249=)
1g.169552696T>ACA343129028F5c.1157A>T (p.Gln386Leu)
c.746A>T (p.Gln249Leu)
1g.169552696T>CCA343129027F5c.1157A>G (p.Gln386Arg)
c.746A>G (p.Gln249Arg)
1g.169552696T>GCA343129026F5c.1157A>C (p.Gln386Pro)
c.746A>C (p.Gln249Pro)
1g.169552697G>ACA343129030F5c.1156C>T (p.Gln386Ter)
c.745C>T (p.Gln249Ter)
1g.169552697G>CCA343129036F5c.1156C>G (p.Gln386Glu)
c.745C>G (p.Gln249Glu)
1g.169552697G>TCA343129031F5c.1156C>A (p.Gln386Lys)
c.745C>A (p.Gln249Lys)
 gnomAD v4
1g.169552698G>ACA421732568F5c.1155C>T (p.Asn385=)
c.744C>T (p.Asn248=)
1g.169552698G>CCA343129043F5c.1155C>G (p.Asn385Lys)
c.744C>G (p.Asn248Lys)
 gnomAD v4
1g.169552698G>TCA343129046F5c.1155C>A (p.Asn385Lys)
c.744C>A (p.Asn248Lys)
1g.169552699T>ACA343129049F5c.1154A>T (p.Asn385Ile)
c.743A>T (p.Asn248Ile)
1g.169552699T>CCA1234402F5c.1154A>G (p.Asn385Ser)
c.743A>G (p.Asn248Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169552699T>GCA343129059F5c.1154A>C (p.Asn385Thr)
c.743A>C (p.Asn248Thr)
1g.169552699T=CA1143818117F5c.1154A= (p.Asn385=)
c.743A= (p.Asn248=)
1g.169552700T>ACA343129067F5c.1153A>T (p.Asn385Tyr)
c.742A>T (p.Asn248Tyr)
1g.169552700T>CCA343129078F5c.1153A>G (p.Asn385Asp)
c.742A>G (p.Asn248Asp)
 gnomAD v4
1g.169552700T>GCA343129082F5c.1153A>C (p.Asn385His)
c.742A>C (p.Asn248His)
1g.169552701T>ACA421732569F5c.1152A>T (p.Ser384=)
c.741A>T (p.Ser247=)
1g.169552701T>CCA421732570F5c.1152A>G (p.Ser384=)
c.741A>G (p.Ser247=)
1g.169552701T>GCA421732571F5c.1152A>C (p.Ser384=)
c.741A>C (p.Ser247=)
 gnomAD v4
1g.169552702G>ACA343129088F5c.1151C>T (p.Ser384Leu)
c.740C>T (p.Ser247Leu)
 gnomAD v4
1g.169552702G>CCA343129098F5c.1151C>G (p.Ser384Ter)
c.740C>G (p.Ser247Ter)
 dbSNP gnomAD v4
1g.169552702G=CA1206146939F5c.1151C= (p.Ser384=)
c.740C= (p.Ser247=)
1g.169552702G>TCA343129100F5c.1151C>A (p.Ser384Ter)
c.740C>A (p.Ser247Ter)
1g.169552703A>CCA343129108F5c.1150T>G (p.Ser384Ala)
c.739T>G (p.Ser247Ala)
1g.169552703A>GCA343129111F5c.1150T>C (p.Ser384Pro)
c.739T>C (p.Ser247Pro)
 gnomAD v4
1g.169552703A>TCA343129114F5c.1150T>A (p.Ser384Thr)
c.739T>A (p.Ser247Thr)
1g.169552704G>ACA421732572F5c.1149C>T (p.Phe383=)
c.738C>T (p.Phe246=)
 dbSNP gnomAD v4
1g.169552704G>CCA343129120F5c.1149C>G (p.Phe383Leu)
c.738C>G (p.Phe246Leu)
1g.169552704G=CA1206146943F5c.1149C= (p.Phe383=)
c.738C= (p.Phe246=)
1g.169552704G>TCA343129117F5c.1149C>A (p.Phe383Leu)
c.738C>A (p.Phe246Leu)
1g.169552705A=CA1206146945F5c.1148T= (p.Phe383=)
c.737T= (p.Phe246=)
1g.169552705A>CCA343129125F5c.1148T>G (p.Phe383Cys)
c.737T>G (p.Phe246Cys)
1g.169552705A>GCA343129126F5c.1148T>C (p.Phe383Ser)
c.737T>C (p.Phe246Ser)
 dbSNP
1g.169552705A>TCA343129127F5c.1148T>A (p.Phe383Tyr)
c.737T>A (p.Phe246Tyr)
1g.169552706A=CA1206146947F5c.1147T= (p.Phe383=)
c.736T= (p.Phe246=)
1g.169552706A>CCA343129128F5c.1147T>G (p.Phe383Val)
c.736T>G (p.Phe246Val)
1g.169552706A>GCA32388728F5c.1147T>C (p.Phe383Leu)
c.736T>C (p.Phe246Leu)
 dbSNP
1g.169552706A>TCA343129134F5c.1147T>A (p.Phe383Ile)
c.736T>A (p.Phe246Ile)
1g.169552707A>CCA343129139F5c.1146T>G (p.Asn382Lys)
c.735T>G (p.Asn245Lys)
1g.169552707A>GCA421732573F5c.1146T>C (p.Asn382=)
c.735T>C (p.Asn245=)
 gnomAD v4
1g.169552707A>TCA343129142F5c.1146T>A (p.Asn382Lys)
c.735T>A (p.Asn245Lys)

Number of alleles fetched