Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.113149097C>ACA485424070F10c.1047C>A (p.Ala349=)
c.*38C>A (n.*38C>A)
c.915C>A (p.Ala305=)
 gnomAD v4
13g.113149097C=CA2120140166F10c.1047C= (p.Ala349=)
c.*38C= (n.*38C=)
c.915C= (p.Ala305=)
13g.113149097C>GCA485424071F10c.1047C>G (p.Ala349=)
c.*38C>G (n.*38C>G)
c.915C>G (p.Ala305=)
 gnomAD v4
13g.113149097C>TCA256478678F10c.1047C>T (p.Ala349=)
c.*38C>T (n.*38C>T)
c.915C>T (p.Ala305=)
 dbSNP gnomAD v3 gnomAD v4
13g.113149098delCA2623809576F10c.1048del (p.Glu350SerfsTer4)
c.*39del (n.*39del)
c.916del (p.Glu306SerfsTer4)
 gnomAD v4
13g.113149098G>ACA256478679F10c.1048G>A (p.Glu350Lys)
c.*39G>A (n.*39G>A)
c.916G>A (p.Glu306Lys)
 dbSNP gnomAD v3 gnomAD v4
13g.113149098G>CCA388792770F10c.1048G>C (p.Glu350Gln)
c.*39G>C (n.*39G>C)
c.916G>C (p.Glu306Gln)
13g.113149098G=CA2120140169F10c.1048G= (p.Glu350=)
c.*39G= (n.*39G=)
c.916G= (p.Glu306=)
13g.113149098G>TCA388792773F10c.1048G>T (p.Glu350Ter)
c.*39G>T (n.*39G>T)
c.916G>T (p.Glu306Ter)
13g.113149099A>CCA388792775F10c.1049A>C (p.Glu350Ala)
c.*40A>C (n.*40A>C)
c.917A>C (p.Glu306Ala)
13g.113149099A>GCA388792778F10c.1049A>G (p.Glu350Gly)
c.*40A>G (n.*40A>G)
c.917A>G (p.Glu306Gly)
13g.113149099A>TCA388792780F10c.1049A>T (p.Glu350Val)
c.*40A>T (n.*40A>T)
c.917A>T (p.Glu306Val)
13g.113149100G>ACA7060675F10c.1050G>A (p.Glu350=)
c.*41G>A (n.*41G>A)
c.918G>A (p.Glu306=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149100G>CCA388792783F10c.1050G>C (p.Glu350Asp)
c.*41G>C (n.*41G>C)
c.918G>C (p.Glu306Asp)
13g.113149100G=CA2120140171F10c.1050G= (p.Glu350=)
c.*41G= (n.*41G=)
c.918G= (p.Glu306=)
13g.113149100G>TCA388792785F10c.1050G>T (p.Glu350Asp)
c.*41G>T (n.*41G>T)
c.918G>T (p.Glu306Asp)
13g.113149101T>ACA388792788F10c.1051T>A (p.Ser351Thr)
c.*42T>A (n.*42T>A)
c.919T>A (p.Ser307Thr)
13g.113149101T>CCA388792789F10c.1051T>C (p.Ser351Pro)
c.*42T>C (n.*42T>C)
c.919T>C (p.Ser307Pro)
 gnomAD v4
13g.113149101T>GCA388792792F10c.1051T>G (p.Ser351Ala)
c.*42T>G (n.*42T>G)
c.919T>G (p.Ser307Ala)
13g.113149102C>ACA388792794F10c.1052C>A (p.Ser351Tyr)
c.*43C>A (n.*43C>A)
c.920C>A (p.Ser307Tyr)
13g.113149102C>GCA388792799F10c.1052C>G (p.Ser351Cys)
c.*43C>G (n.*43C>G)
c.920C>G (p.Ser307Cys)
13g.113149102C>TCA388792796F10c.1052C>T (p.Ser351Phe)
c.*43C>T (n.*43C>T)
c.920C>T (p.Ser307Phe)
13g.113149103C>ACA485424072F10c.1053C>A (p.Ser351=)
c.*44C>A (n.*44C>A)
c.921C>A (p.Ser307=)
 COSMIC
13g.113149103C>GCA485424073F10c.1053C>G (p.Ser351=)
c.*44C>G (n.*44C>G)
c.921C>G (p.Ser307=)
13g.113149103C>TCA485424074F10c.1053C>T (p.Ser351=)
c.*44C>T (n.*44C>T)
c.921C>T (p.Ser307=)
 gnomAD v4
13g.113149104A>CCA388792801F10c.1054A>C (p.Thr352Pro)
c.*45A>C (n.*45A>C)
c.922A>C (p.Thr308Pro)
13g.113149104A>GCA388792802F10c.1054A>G (p.Thr352Ala)
c.*45A>G (n.*45A>G)
c.922A>G (p.Thr308Ala)
13g.113149104A>TCA388792805F10c.1054A>T (p.Thr352Ser)
c.*45A>T (n.*45A>T)
c.922A>T (p.Thr308Ser)
13g.113149105C>ACA388792808F10c.1055C>A (p.Thr352Lys)
c.*46C>A (n.*46C>A)
c.923C>A (p.Thr308Lys)
13g.113149105C=CA2120140173F10c.1055C= (p.Thr352=)
c.*46C= (n.*46C=)
c.923C= (p.Thr308=)
13g.113149105C>GCA388792809F10c.1055C>G (p.Thr352Arg)
c.*46C>G (n.*46C>G)
c.923C>G (p.Thr308Arg)
13g.113149105C>TCA388792810F10c.1055C>T (p.Thr352Met)
c.*46C>T (n.*46C>T)
c.923C>T (p.Thr308Met)
 dbSNP gnomAD v2 gnomAD v4
13g.113149106G>ACA7060676F10c.1056G>A (p.Thr352=)
c.*47G>A (n.*47G>A)
c.924G>A (p.Thr308=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149106G>CCA485424075F10c.1056G>C (p.Thr352=)
c.*47G>C (n.*47G>C)
c.924G>C (p.Thr308=)
13g.113149106G=CA2120140175F10c.1056G= (p.Thr352=)
c.*47G= (n.*47G=)
c.924G= (p.Thr308=)
13g.113149106G>TCA485424076F10c.1056G>T (p.Thr352=)
c.*47G>T (n.*47G>T)
c.924G>T (p.Thr308=)
 dbSNP gnomAD v3 gnomAD v4
13g.113149107C>ACA388792813F10c.1057C>A (p.Leu353Met)
c.*48C>A (n.*48C>A)
c.925C>A (p.Leu309Met)
13g.113149107C>GCA388792816F10c.1057C>G (p.Leu353Val)
c.*48C>G (n.*48C>G)
c.925C>G (p.Leu309Val)
13g.113149107C>TCA485424077F10c.1057C>T (p.Leu353=)
c.*48C>T (n.*48C>T)
c.925C>T (p.Leu309=)
13g.113149107_113149108delinsCTCA2120140177F10c.1057_1058delinsCT (p.Leu353=)
c.*48_*49delinsCT (n.*48_*49delinsCT)
c.925_926delinsCT (p.Leu309=)
13g.113149108delCA7060677F10c.1058del (p.Leu353ArgfsTer2)
c.*49del (n.*49del)
c.926del (p.Leu309ArgfsTer2)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113149108T>ACA388792818F10c.1058T>A (p.Leu353Gln)
c.*49T>A (n.*49T>A)
c.926T>A (p.Leu309Gln)
13g.113149108T>CCA388792820F10c.1058T>C (p.Leu353Pro)
c.*49T>C (n.*49T>C)
c.926T>C (p.Leu309Pro)
 gnomAD v4
13g.113149108T>GCA388792823F10c.1058T>G (p.Leu353Arg)
c.*49T>G (n.*49T>G)
c.926T>G (p.Leu309Arg)
13g.113149109G>ACA485424078F10c.1059G>A (p.Leu353=)
c.*50G>A (n.*50G>A)
c.927G>A (p.Leu309=)
13g.113149109G>CCA256478684F10c.1059G>C (p.Leu353=)
c.*50G>C (n.*50G>C)
c.927G>C (p.Leu309=)
 dbSNP gnomAD v4
13g.113149109G=CA2120140179F10c.1059G= (p.Leu353=)
c.*50G= (n.*50G=)
c.927G= (p.Leu309=)
13g.113149109G>TCA485424079F10c.1059G>T (p.Leu353=)
c.*50G>T (n.*50G>T)
c.927G>T (p.Leu309=)
13g.113149110A>CCA388792830F10c.1060A>C (p.Met354Leu)
c.*51A>C (n.*51A>C)
c.928A>C (p.Met310Leu)
13g.113149110A>GCA388792827F10c.1060A>G (p.Met354Val)
c.*51A>G (n.*51A>G)
c.928A>G (p.Met310Val)
13g.113149110A>TCA388792829F10c.1060A>T (p.Met354Leu)
c.*51A>T (n.*51A>T)
c.928A>T (p.Met310Leu)
13g.113149111T>ACA388792833F10c.1061T>A (p.Met354Lys)
c.*52T>A (n.*52T>A)
c.929T>A (p.Met310Lys)
13g.113149111T>CCA388792836F10c.1061T>C (p.Met354Thr)
c.*52T>C (n.*52T>C)
c.929T>C (p.Met310Thr)
13g.113149111T>GCA388792838F10c.1061T>G (p.Met354Arg)
c.*52T>G (n.*52T>G)
c.929T>G (p.Met310Arg)
13g.113149112G>ACA388792841F10c.1062G>A (p.Met354Ile)
c.*53G>A (n.*53G>A)
c.930G>A (p.Met310Ile)
13g.113149112G>CCA388792843F10c.1062G>C (p.Met354Ile)
c.*53G>C (n.*53G>C)
c.930G>C (p.Met310Ile)
13g.113149112G>TCA388792845F10c.1062G>T (p.Met354Ile)
c.*53G>T (n.*53G>T)
c.930G>T (p.Met310Ile)
13g.113149113A=CA2120140182F10c.1063A= (p.Thr355=)
c.*54A= (n.*54A=)
c.931A= (p.Thr311=)
13g.113149113A>CCA388792848F10c.1063A>C (p.Thr355Pro)
c.*54A>C (n.*54A>C)
c.931A>C (p.Thr311Pro)
13g.113149113A>GCA7060678F10c.1063A>G (p.Thr355Ala)
c.*54A>G (n.*54A>G)
c.931A>G (p.Thr311Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113149113A>TCA388792853F10c.1063A>T (p.Thr355Ser)
c.*54A>T (n.*54A>T)
c.931A>T (p.Thr311Ser)
13g.113149114C>ACA7060679F10c.1064C>A (p.Thr355Lys)
c.*55C>A (n.*55C>A)
c.932C>A (p.Thr311Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113149114C=CA2120140183F10c.1064C= (p.Thr355=)
c.*55C= (n.*55C=)
c.932C= (p.Thr311=)
13g.113149114C>GCA388792854F10c.1064C>G (p.Thr355Arg)
c.*55C>G (n.*55C>G)
c.932C>G (p.Thr311Arg)
13g.113149114C>TCA388792856F10c.1064C>T (p.Thr355Met)
c.*55C>T (n.*55C>T)
c.932C>T (p.Thr311Met)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
13g.113149115G>ACA485424081F10c.1065G>A (p.Thr355=)
c.*56G>A (n.*56G>A)
c.933G>A (p.Thr311=)
 dbSNP gnomAD v4
13g.113149115G>CCA485424082F10c.1065G>C (p.Thr355=)
c.*56G>C (n.*56G>C)
c.933G>C (p.Thr311=)
13g.113149115G=CA2120140185F10c.1065G= (p.Thr355=)
c.*56G= (n.*56G=)
c.933G= (p.Thr311=)
13g.113149115G>TCA485424080F10c.1065G>T (p.Thr355=)
c.*56G>T (n.*56G>T)
c.933G>T (p.Thr311=)
13g.113149116C>ACA388792864F10c.1066C>A (p.Gln356Lys)
c.*57C>A (n.*57C>A)
c.934C>A (p.Gln312Lys)
13g.113149116C>GCA388792859F10c.1066C>G (p.Gln356Glu)
c.*57C>G (n.*57C>G)
c.934C>G (p.Gln312Glu)
13g.113149116C>TCA388792862F10c.1066C>T (p.Gln356Ter)
c.*57C>T (n.*57C>T)
c.934C>T (p.Gln312Ter)
13g.113149117A=CA2120140188F10c.1067A= (p.Gln356=)
c.*58A= (n.*58A=)
c.935A= (p.Gln312=)
13g.113149117A>CCA388792866F10c.1067A>C (p.Gln356Pro)
c.*58A>C (n.*58A>C)
c.935A>C (p.Gln312Pro)
13g.113149117A>GCA388792871F10c.1067A>G (p.Gln356Arg)
c.*58A>G (n.*58A>G)
c.935A>G (p.Gln312Arg)
 dbSNP gnomAD v4
13g.113149117A>TCA388792869F10c.1067A>T (p.Gln356Leu)
c.*58A>T (n.*58A>T)
c.935A>T (p.Gln312Leu)
13g.113149118G>ACA485424083F10c.1068G>A (p.Gln356=)
c.*59G>A (n.*59G>A)
c.936G>A (p.Gln312=)
13g.113149118G>CCA388792872F10c.1068G>C (p.Gln356His)
c.*59G>C (n.*59G>C)
c.936G>C (p.Gln312His)
13g.113149118G>TCA388792874F10c.1068G>T (p.Gln356His)
c.*59G>T (n.*59G>T)
c.936G>T (p.Gln312His)
13g.113149119A=CA2120140191F10c.1069A= (p.Lys357=)
c.*60A= (n.*60A=)
c.937A= (p.Lys313=)
13g.113149119A>CCA388792876F10c.1069A>C (p.Lys357Gln)
c.*60A>C (n.*60A>C)
c.937A>C (p.Lys313Gln)
 gnomAD v4
13g.113149119A>GCA388792878F10c.1069A>G (p.Lys357Glu)
c.*60A>G (n.*60A>G)
c.937A>G (p.Lys313Glu)
 dbSNP gnomAD v2
13g.113149119A>TCA388792881F10c.1069A>T (p.Lys357Ter)
c.*60A>T (n.*60A>T)
c.937A>T (p.Lys313Ter)
13g.113149120A>CCA388792883F10c.1070A>C (p.Lys357Thr)
c.*61A>C (n.*61A>C)
c.938A>C (p.Lys313Thr)
13g.113149120A>GCA388792885F10c.1070A>G (p.Lys357Arg)
c.*61A>G (n.*61A>G)
c.938A>G (p.Lys313Arg)
13g.113149120A>TCA388792886F10c.1070A>T (p.Lys357Met)
c.*61A>T (n.*61A>T)
c.938A>T (p.Lys313Met)
 gnomAD v4
13g.113149121G>ACA485424084F10c.1071G>A (p.Lys357=)
c.*62G>A (n.*62G>A)
c.939G>A (p.Lys313=)
 COSMIC
13g.113149121G>CCA388792888F10c.1071G>C (p.Lys357Asn)
c.*62G>C (n.*62G>C)
c.939G>C (p.Lys313Asn)
13g.113149121G>TCA388792889F10c.1071G>T (p.Lys357Asn)
c.*62G>T (n.*62G>T)
c.939G>T (p.Lys313Asn)
13g.113149122A>CCA388792892F10c.1072A>C (p.Thr358Pro)
c.*63A>C (n.*63A>C)
c.940A>C (p.Thr314Pro)
13g.113149122A>GCA388792894F10c.1072A>G (p.Thr358Ala)
c.*63A>G (n.*63A>G)
c.940A>G (p.Thr314Ala)
13g.113149122A>TCA388792895F10c.1072A>T (p.Thr358Ser)
c.*63A>T (n.*63A>T)
c.940A>T (p.Thr314Ser)
13g.113149123C>ACA388792899F10c.1073C>A (p.Thr358Lys)
c.*64C>A (n.*64C>A)
c.941C>A (p.Thr314Lys)
13g.113149123C=CA2120140193F10c.1073C= (p.Thr358=)
c.*64C= (n.*64C=)
c.941C= (p.Thr314=)
13g.113149123C>GCA388792902F10c.1073C>G (p.Thr358Arg)
c.*64C>G (n.*64C>G)
c.941C>G (p.Thr314Arg)
13g.113149123C>TCA7060680F10c.1073C>T (p.Thr358Met)
c.*64C>T (n.*64C>T)
c.941C>T (p.Thr314Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149124G>ACA7060681F10c.1074G>A (p.Thr358=)
c.*65G>A (n.*65G>A)
c.942G>A (p.Thr314=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113149124G>CCA256478687F10c.1074G>C (p.Thr358=)
c.*65G>C (n.*65G>C)
c.942G>C (p.Thr314=)
 dbSNP gnomAD v3 gnomAD v4
13g.113149124G=CA2120140196F10c.1074G= (p.Thr358=)
c.*65G= (n.*65G=)
c.942G= (p.Thr314=)
13g.113149124G>TCA485424096F10c.1074G>T (p.Thr358=)
c.*65G>T (n.*65G>T)
c.942G>T (p.Thr314=)
 gnomAD v4
13g.113149127delCA2623809597F10c.1077del (p.Ile360LeufsTer2)
c.*68del (n.*68del)
c.945del (p.Ile316LeufsTer2)
 gnomAD v4
13g.113149125G>ACA388792906F10c.1075G>A (p.Gly359Arg)
c.*66G>A (n.*66G>A)
c.943G>A (p.Gly315Arg)
13g.113149125G>CCA388792908F10c.1075G>C (p.Gly359Arg)
c.*66G>C (n.*66G>C)
c.943G>C (p.Gly315Arg)
 dbSNP gnomAD v4
13g.113149125G=CA2120140199F10c.1075G= (p.Gly359=)
c.*66G= (n.*66G=)
c.943G= (p.Gly315=)
13g.113149125G>TCA388792911F10c.1075G>T (p.Gly359Trp)
c.*66G>T (n.*66G>T)
c.943G>T (p.Gly315Trp)
13g.113149126G>ACA388792914F10c.1076G>A (p.Gly359Glu)
c.*67G>A (n.*67G>A)
c.944G>A (p.Gly315Glu)
13g.113149126G>CCA388792915F10c.1076G>C (p.Gly359Ala)
c.*67G>C (n.*67G>C)
c.944G>C (p.Gly315Ala)
 gnomAD v4
13g.113149126G=CA2120140202F10c.1076G= (p.Gly359=)
c.*67G= (n.*67G=)
c.944G= (p.Gly315=)
13g.113149126G>TCA388792917F10c.1076G>T (p.Gly359Val)
c.*67G>T (n.*67G>T)
c.944G>T (p.Gly315Val)
 dbSNP
13g.113149127G>ACA485424097F10c.1077G>A (p.Gly359=)
c.*68G>A (n.*68G>A)
c.945G>A (p.Gly315=)
13g.113149127G>CCA485424100F10c.1077G>C (p.Gly359=)
c.*68G>C (n.*68G>C)
c.945G>C (p.Gly315=)
13g.113149127G>TCA485424101F10c.1077G>T (p.Gly359=)
c.*68G>T (n.*68G>T)
c.945G>T (p.Gly315=)
 gnomAD v4
13g.113149128A>CCA388792919F10c.1078A>C (p.Ile360Leu)
c.*69A>C (n.*69A>C)
c.946A>C (p.Ile316Leu)
13g.113149128A>GCA388792921F10c.1078A>G (p.Ile360Val)
c.*69A>G (n.*69A>G)
c.946A>G (p.Ile316Val)
13g.113149128A>TCA388792923F10c.1078A>T (p.Ile360Phe)
c.*69A>T (n.*69A>T)
c.946A>T (p.Ile316Phe)
13g.113149129T>ACA388792929F10c.1079T>A (p.Ile360Asn)
c.*70T>A (n.*70T>A)
c.947T>A (p.Ile316Asn)
13g.113149129T>CCA388792928F10c.1079T>C (p.Ile360Thr)
c.*70T>C (n.*70T>C)
c.947T>C (p.Ile316Thr)
 dbSNP gnomAD v2 gnomAD v4
13g.113149129T>GCA388792925F10c.1079T>G (p.Ile360Ser)
c.*70T>G (n.*70T>G)
c.947T>G (p.Ile316Ser)
13g.113149129T=CA2120140205F10c.1079T= (p.Ile360=)
c.*70T= (n.*70T=)
c.947T= (p.Ile316=)
13g.113149130T>ACA485424103F10c.1080T>A (p.Ile360=)
c.*71T>A (n.*71T>A)
c.948T>A (p.Ile316=)
13g.113149130T>CCA485424105F10c.1080T>C (p.Ile360=)
c.*71T>C (n.*71T>C)
c.948T>C (p.Ile316=)
13g.113149130T>GCA388792932F10c.1080T>G (p.Ile360Met)
c.*71T>G (n.*71T>G)
c.948T>G (p.Ile316Met)
13g.113149131G>ACA388792934F10c.1081G>A (p.Val361Met)
c.*72G>A (n.*72G>A)
c.949G>A (p.Val317Met)
13g.113149131G>CCA388792936F10c.1081G>C (p.Val361Leu)
c.*72G>C (n.*72G>C)
c.949G>C (p.Val317Leu)
13g.113149131G>TCA388792938F10c.1081G>T (p.Val361Leu)
c.*72G>T (n.*72G>T)
c.949G>T (p.Val317Leu)
13g.113149132T>ACA388792940F10c.1082T>A (p.Val361Glu)
c.*73T>A (n.*73T>A)
c.950T>A (p.Val317Glu)
13g.113149132T>CCA388792942F10c.1082T>C (p.Val361Ala)
c.*73T>C (n.*73T>C)
c.950T>C (p.Val317Ala)
13g.113149132T>GCA388792944F10c.1082T>G (p.Val361Gly)
c.*73T>G (n.*73T>G)
c.950T>G (p.Val317Gly)
13g.113149133G>ACA485424106F10c.1083G>A (p.Val361=)
c.*74G>A (n.*74G>A)
c.951G>A (p.Val317=)
 dbSNP gnomAD v3
13g.113149133G>CCA7060682F10c.1083G>C (p.Val361=)
c.*74G>C (n.*74G>C)
c.951G>C (p.Val317=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149133G=CA2120140207F10c.1083G= (p.Val361=)
c.*74G= (n.*74G=)
c.951G= (p.Val317=)
13g.113149133G>TCA485424108F10c.1083G>T (p.Val361=)
c.*74G>T (n.*74G>T)
c.951G>T (p.Val317=)
13g.113149134A>CCA388792948F10c.1084A>C (p.Ser362Arg)
c.*75A>C (n.*75A>C)
c.952A>C (p.Ser318Arg)
13g.113149134A>GCA388792950F10c.1084A>G (p.Ser362Gly)
c.*75A>G (n.*75A>G)
c.952A>G (p.Ser318Gly)
13g.113149134A>TCA388792953F10c.1084A>T (p.Ser362Cys)
c.*75A>T (n.*75A>T)
c.952A>T (p.Ser318Cys)
13g.113149135G>ACA388792956F10c.1085G>A (p.Ser362Asn)
c.*76G>A (n.*76G>A)
c.953G>A (p.Ser318Asn)
13g.113149135G>CCA388792958F10c.1085G>C (p.Ser362Thr)
c.*76G>C (n.*76G>C)
c.953G>C (p.Ser318Thr)
13g.113149135G>TCA388792960F10c.1085G>T (p.Ser362Ile)
c.*76G>T (n.*76G>T)
c.953G>T (p.Ser318Ile)
13g.113149136C>ACA388792966F10c.1086C>A (p.Ser362Arg)
c.*77C>A (n.*77C>A)
c.954C>A (p.Ser318Arg)
 dbSNP
13g.113149136C=CA2120140210F10c.1086C= (p.Ser362=)
c.*77C= (n.*77C=)
c.954C= (p.Ser318=)
13g.113149136C>GCA388792963F10c.1086C>G (p.Ser362Arg)
c.*77C>G (n.*77C>G)
c.954C>G (p.Ser318Arg)
13g.113149136C>TCA7060683F10c.1086C>T (p.Ser362=)
c.*77C>T (n.*77C>T)
c.954C>T (p.Ser318=)
 dbSNP ExAC gnomAD v3 gnomAD v4
13g.113149137G>ACA388792976F10c.1087G>A (p.Gly363Ser)
c.*78G>A (n.*78G>A)
c.955G>A (p.Gly319Ser)
 ClinVar dbSNP gnomAD v4 COSMIC
13g.113149137G>CCA388792978F10c.1087G>C (p.Gly363Arg)
c.*78G>C (n.*78G>C)
c.955G>C (p.Gly319Arg)
13g.113149137G=CA2120140214F10c.1087G= (p.Gly363=)
c.*78G= (n.*78G=)
c.955G= (p.Gly319=)
13g.113149137G>TCA388792980F10c.1087G>T (p.Gly363Cys)
c.*78G>T (n.*78G>T)
c.955G>T (p.Gly319Cys)
13g.113149138G>ACA388792984F10c.1088G>A (p.Gly363Asp)
c.*79G>A (n.*79G>A)
c.956G>A (p.Gly319Asp)
 gnomAD v4
13g.113149138G>CCA388792986F10c.1088G>C (p.Gly363Ala)
c.*79G>C (n.*79G>C)
c.956G>C (p.Gly319Ala)
 gnomAD v4
13g.113149138G>TCA388792987F10c.1088G>T (p.Gly363Val)
c.*79G>T (n.*79G>T)
c.956G>T (p.Gly319Val)
13g.113149139C>ACA485424111F10c.1089C>A (p.Gly363=)
c.*80C>A (n.*80C>A)
c.957C>A (p.Gly319=)
13g.113149139C>GCA485424113F10c.1089C>G (p.Gly363=)
c.*80C>G (n.*80C>G)
c.957C>G (p.Gly319=)
13g.113149139C>TCA485424114F10c.1089C>T (p.Gly363=)
c.*80C>T (n.*80C>T)
c.957C>T (p.Gly319=)
13g.113149140T>ACA388792988F10c.1090T>A (p.Phe364Ile)
c.*81T>A (n.*81T>A)
c.958T>A (p.Phe320Ile)
13g.113149140T>CCA388792989F10c.1090T>C (p.Phe364Leu)
c.*81T>C (n.*81T>C)
c.958T>C (p.Phe320Leu)
13g.113149140T>GCA388792991F10c.1090T>G (p.Phe364Val)
c.*81T>G (n.*81T>G)
c.958T>G (p.Phe320Val)
13g.113149141T>ACA388792992F10c.1091T>A (p.Phe364Tyr)
c.*82T>A (n.*82T>A)
c.959T>A (p.Phe320Tyr)
13g.113149141T>CCA388792995F10c.1091T>C (p.Phe364Ser)
c.*82T>C (n.*82T>C)
c.959T>C (p.Phe320Ser)
13g.113149141T>GCA388792997F10c.1091T>G (p.Phe364Cys)
c.*82T>G (n.*82T>G)
c.959T>G (p.Phe320Cys)
13g.113149142C>ACA388793002F10c.1092C>A (p.Phe364Leu)
c.*83C>A (n.*83C>A)
c.960C>A (p.Phe320Leu)
13g.113149142C=CA2120140219F10c.1092C= (p.Phe364=)
c.*83C= (n.*83C=)
c.960C= (p.Phe320=)
13g.113149142C>GCA388793005F10c.1092C>G (p.Phe364Leu)
c.*83C>G (n.*83C>G)
c.960C>G (p.Phe320Leu)
13g.113149142C>TCA7060684F10c.1092C>T (p.Phe364=)
c.*83C>T (n.*83C>T)
c.960C>T (p.Phe320=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149143G>ACA388793010F10c.1093G>A (p.Gly365Arg)
c.*84G>A (n.*84G>A)
c.961G>A (p.Gly321Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113149143G>CCA388793014F10c.1093G>C (p.Gly365Arg)
c.*84G>C (n.*84G>C)
c.961G>C (p.Gly321Arg)
13g.113149143G=CA2120140221F10c.1093G= (p.Gly365=)
c.*84G= (n.*84G=)
c.961G= (p.Gly321=)
13g.113149143G>TCA388793011F10c.1093G>T (p.Gly365Trp)
c.*84G>T (n.*84G>T)
c.961G>T (p.Gly321Trp)
13g.113149144G>ACA388793017F10c.1094G>A (p.Gly365Glu)
c.*85G>A (n.*85G>A)
c.962G>A (p.Gly321Glu)
13g.113149144G>CCA388793022F10c.1094G>C (p.Gly365Ala)
c.*85G>C (n.*85G>C)
c.962G>C (p.Gly321Ala)
13g.113149144G>TCA388793019F10c.1094G>T (p.Gly365Val)
c.*85G>T (n.*85G>T)
c.962G>T (p.Gly321Val)
13g.113149145G>ACA485424119F10c.1095G>A (p.Gly365=)
c.*86G>A (n.*86G>A)
c.963G>A (p.Gly321=)
13g.113149145G>CCA485424117F10c.1095G>C (p.Gly365=)
c.*86G>C (n.*86G>C)
c.963G>C (p.Gly321=)
13g.113149145G>TCA485424115F10c.1095G>T (p.Gly365=)
c.*86G>T (n.*86G>T)
c.963G>T (p.Gly321=)
13g.113149146delCA2575514504F10c.1096del (p.Arg366AlafsTer?)
c.*87del (n.*87del)
c.964del (p.Arg322AlafsTer?)
 gnomAD v4
13g.113149146C>ACA388793024F10c.1096C>A (p.Arg366Ser)
c.*87C>A (n.*87C>A)
c.964C>A (p.Arg322Ser)
13g.113149146C=CA2120140226F10c.1096C= (p.Arg366=)
c.*87C= (n.*87C=)
c.964C= (p.Arg322=)
13g.113149146C>GCA388793026F10c.1096C>G (p.Arg366Gly)
c.*87C>G (n.*87C>G)
c.964C>G (p.Arg322Gly)
 dbSNP gnomAD v3 gnomAD v4
13g.113149146C>TCA121837F10c.1096C>T (p.Arg366Cys)
c.*87C>T (n.*87C>T)
c.964C>T (p.Arg322Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.113149147G>ACA7060685F10c.1097G>A (p.Arg366His)
c.*88G>A (n.*88G>A)
c.965G>A (p.Arg322His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149147G>CCA388793029F10c.1097G>C (p.Arg366Pro)
c.*88G>C (n.*88G>C)
c.965G>C (p.Arg322Pro)
13g.113149147G=CA2120140229F10c.1097G= (p.Arg366=)
c.*88G= (n.*88G=)
c.965G= (p.Arg322=)
13g.113149147G>TCA388793031F10c.1097G>T (p.Arg366Leu)
c.*88G>T (n.*88G>T)
c.965G>T (p.Arg322Leu)
13g.113149148C>ACA485424121F10c.1098C>A (p.Arg366=)
c.*89C>A (n.*89C>A)
c.966C>A (p.Arg322=)
13g.113149148C>GCA485424122F10c.1098C>G (p.Arg366=)
c.*89C>G (n.*89C>G)
c.966C>G (p.Arg322=)
13g.113149148C>TCA485424124F10c.1098C>T (p.Arg366=)
c.*89C>T (n.*89C>T)
c.966C>T (p.Arg322=)
13g.113149149A=CA2120140232F10c.1099A= (p.Thr367=)
c.*90A= (n.*90A=)
c.967A= (p.Thr323=)
13g.113149149A>CCA388793033F10c.1099A>C (p.Thr367Pro)
c.*90A>C (n.*90A>C)
c.967A>C (p.Thr323Pro)
 dbSNP
13g.113149149A>GCA388793036F10c.1099A>G (p.Thr367Ala)
c.*90A>G (n.*90A>G)
c.967A>G (p.Thr323Ala)
 dbSNP gnomAD v4
13g.113149149A>TCA388793038F10c.1099A>T (p.Thr367Ser)
c.*90A>T (n.*90A>T)
c.967A>T (p.Thr323Ser)
13g.113149150C>ACA388793040F10c.1100C>A (p.Thr367Asn)
c.*91C>A (n.*91C>A)
c.968C>A (p.Thr323Asn)
13g.113149150C>GCA388793042F10c.1100C>G (p.Thr367Ser)
c.*91C>G (n.*91C>G)
c.968C>G (p.Thr323Ser)
13g.113149150C>TCA388793044F10c.1100C>T (p.Thr367Ile)
c.*91C>T (n.*91C>T)
c.968C>T (p.Thr323Ile)
13g.113149151C>ACA485424126F10c.1101C>A (p.Thr367=)
c.*92C>A (n.*92C>A)
c.969C>A (p.Thr323=)
13g.113149151C=CA2120140235F10c.1101C= (p.Thr367=)
c.*92C= (n.*92C=)
c.969C= (p.Thr323=)
13g.113149151C>GCA485424127F10c.1101C>G (p.Thr367=)
c.*92C>G (n.*92C>G)
c.969C>G (p.Thr323=)
13g.113149151C>TCA256478691F10c.1101C>T (p.Thr367=)
c.*92C>T (n.*92C>T)
c.969C>T (p.Thr323=)
 dbSNP gnomAD v4
13g.113149151_113149152insTCA7060686F10c.1101_1102insT (p.His368SerfsTer?)
c.*92_*93insT (n.*92_*93insT)
c.969_970insT (p.His324SerfsTer?)
 dbSNP ExAC
13g.113149152C>ACA388793047F10c.1102C>A (p.His368Asn)
c.*93C>A (n.*93C>A)
c.970C>A (p.His324Asn)
13g.113149152C>GCA388793051F10c.1102C>G (p.His368Asp)
c.*93C>G (n.*93C>G)
c.970C>G (p.His324Asp)
13g.113149152C>TCA388793049F10c.1102C>T (p.His368Tyr)
c.*93C>T (n.*93C>T)
c.970C>T (p.His324Tyr)
13g.113149153A=CA2120140240F10c.1103A= (p.His368=)
c.*94A= (n.*94A=)
c.971A= (p.His324=)
13g.113149153A>CCA388793054F10c.1103A>C (p.His368Pro)
c.*94A>C (n.*94A>C)
c.971A>C (p.His324Pro)
13g.113149153A>GCA388793055F10c.1103A>G (p.His368Arg)
c.*94A>G (n.*94A>G)
c.971A>G (p.His324Arg)
 dbSNP gnomAD v4
13g.113149153A>TCA388793058F10c.1103A>T (p.His368Leu)
c.*94A>T (n.*94A>T)
c.971A>T (p.His324Leu)
13g.113149153_113149154delinsACCA2120140239F10c.1103_1104delinsAC (p.His368=)
c.*94_*95delinsAC (n.*94_*95delinsAC)
c.971_972delinsAC (p.His324=)
13g.113149154delCA7060687F10c.1104del (p.His368GlnfsTer?)
c.*95del (n.*95del)
c.972del (p.His324GlnfsTer?)
 dbSNP ExAC
13g.113149154C>ACA388793060F10c.1104C>A (p.His368Gln)
c.*95C>A (n.*95C>A)
c.972C>A (p.His324Gln)
13g.113149154C=CA2120140243F10c.1104C= (p.His368=)
c.*95C= (n.*95C=)
c.972C= (p.His324=)
13g.113149154C>GCA7060688F10c.1104C>G (p.His368Gln)
c.*95C>G (n.*95C>G)
c.972C>G (p.His324Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149154C>TCA485424129F10c.1104C>T (p.His368=)
c.*95C>T (n.*95C>T)
c.972C>T (p.His324=)
 dbSNP gnomAD v2 gnomAD v4
13g.113149155G>ACA388793062F10c.1105G>A (p.Glu369Lys)
c.*96G>A (n.*96G>A)
c.973G>A (p.Glu325Lys)
 ClinVar dbSNP COSMIC
13g.113149155G>CCA388793064F10c.1105G>C (p.Glu369Gln)
c.*96G>C (n.*96G>C)
c.973G>C (p.Glu325Gln)
13g.113149155G=CA2120140247F10c.1105G= (p.Glu369=)
c.*96G= (n.*96G=)
c.973G= (p.Glu325=)
13g.113149155G>TCA388793066F10c.1105G>T (p.Glu369Ter)
c.*96G>T (n.*96G>T)
c.973G>T (p.Glu325Ter)
13g.113149156A>CCA388793073F10c.1106A>C (p.Glu369Ala)
c.*97A>C (n.*97A>C)
c.974A>C (p.Glu325Ala)
13g.113149156A>GCA388793070F10c.1106A>G (p.Glu369Gly)
c.*97A>G (n.*97A>G)
c.974A>G (p.Glu325Gly)
13g.113149156A>TCA388793069F10c.1106A>T (p.Glu369Val)
c.*97A>T (n.*97A>T)
c.974A>T (p.Glu325Val)
13g.113149157G>ACA485424131F10c.1107G>A (p.Glu369=)
c.*98G>A (n.*98G>A)
c.975G>A (p.Glu325=)
13g.113149157G>CCA388793075F10c.1107G>C (p.Glu369Asp)
c.*98G>C (n.*98G>C)
c.975G>C (p.Glu325Asp)
13g.113149157G>TCA388793078F10c.1107G>T (p.Glu369Asp)
c.*98G>T (n.*98G>T)
c.975G>T (p.Glu325Asp)
 gnomAD v4
13g.113149158A>CCA388793085F10c.1108A>C (p.Lys370Gln)
c.*99A>C (n.*99A>C)
c.976A>C (p.Lys326Gln)
13g.113149158A>GCA388793088F10c.1108A>G (p.Lys370Glu)
c.*99A>G (n.*99A>G)
c.976A>G (p.Lys326Glu)
13g.113149158A>TCA388793090F10c.1108A>T (p.Lys370Ter)
c.*99A>T (n.*99A>T)
c.976A>T (p.Lys326Ter)
 gnomAD v4
13g.113149159A=CA2120140251F10c.1109A= (p.Lys370=)
c.*100A= (n.*100A=)
c.977A= (p.Lys326=)
13g.113149159A>CCA388793092F10c.1109A>C (p.Lys370Thr)
c.*100A>C (n.*100A>C)
c.977A>C (p.Lys326Thr)
13g.113149159A>GCA388793095F10c.1109A>G (p.Lys370Arg)
c.*100A>G (n.*100A>G)
c.977A>G (p.Lys326Arg)
 dbSNP
13g.113149159A>TCA388793104F10c.1109A>T (p.Lys370Met)
c.*100A>T (n.*100A>T)
c.977A>T (p.Lys326Met)
13g.113149160G>ACA485424136F10c.1110G>A (p.Lys370=)
c.*101G>A (n.*101G>A)
c.978G>A (p.Lys326=)
 dbSNP gnomAD v3 gnomAD v4
13g.113149160G>CCA388793107F10c.1110G>C (p.Lys370Asn)
c.*101G>C (n.*101G>C)
c.978G>C (p.Lys326Asn)
13g.113149160G=CA2120140254F10c.1110G= (p.Lys370=)
c.*101G= (n.*101G=)
c.978G= (p.Lys326=)
13g.113149160G>TCA388793111F10c.1110G>T (p.Lys370Asn)
c.*101G>T (n.*101G>T)
c.978G>T (p.Lys326Asn)
13g.113149161G>ACA388793115F10c.1111G>A (p.Gly371Ser)
c.*102G>A (n.*102G>A)
c.979G>A (p.Gly327Ser)
 dbSNP gnomAD v4
13g.113149161G>CCA388793117F10c.1111G>C (p.Gly371Arg)
c.*102G>C (n.*102G>C)
c.979G>C (p.Gly327Arg)
13g.113149161G=CA2120140258F10c.1111G= (p.Gly371=)
c.*102G= (n.*102G=)
c.979G= (p.Gly327=)
13g.113149161G>TCA388793120F10c.1111G>T (p.Gly371Cys)
c.*102G>T (n.*102G>T)
c.979G>T (p.Gly327Cys)
13g.113149162G>ACA388793130F10c.1112G>A (p.Gly371Asp)
c.*103G>A (n.*103G>A)
c.980G>A (p.Gly327Asp)
 gnomAD v3 gnomAD v4 COSMIC
13g.113149162G>CCA388793124F10c.1112G>C (p.Gly371Ala)
c.*103G>C (n.*103G>C)
c.980G>C (p.Gly327Ala)
13g.113149162G=CA2120140261F10c.1112G= (p.Gly371=)
c.*103G= (n.*103G=)
c.980G= (p.Gly327=)
13g.113149162G>TCA388793127F10c.1112G>T (p.Gly371Val)
c.*103G>T (n.*103G>T)
c.980G>T (p.Gly327Val)
 dbSNP
13g.113149163C>ACA485424140F10c.1113C>A (p.Gly371=)
c.*104C>A (n.*104C>A)
c.981C>A (p.Gly327=)
 COSMIC
13g.113149163C>GCA485424142F10c.1113C>G (p.Gly371=)
c.*104C>G (n.*104C>G)
c.981C>G (p.Gly327=)
13g.113149163C>TCA485424141F10c.1113C>T (p.Gly371=)
c.*104C>T (n.*104C>T)
c.981C>T (p.Gly327=)
13g.113149164C>ACA485424143F10c.1114C>A (p.Arg372=)
c.*105C>A (n.*105C>A)
c.982C>A (p.Arg328=)
 COSMIC
13g.113149164C=CA2120140264F10c.1114C= (p.Arg372=)
c.*105C= (n.*105C=)
c.982C= (p.Arg328=)
13g.113149164C>GCA388793132F10c.1114C>G (p.Arg372Gly)
c.*105C>G (n.*105C>G)
c.982C>G (p.Arg328Gly)
 dbSNP gnomAD v2 gnomAD v4
13g.113149164C>TCA256478695F10c.1114C>T (p.Arg372Trp)
c.*105C>T (n.*105C>T)
c.982C>T (p.Arg328Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.113149165G>ACA256478697F10c.1115G>A (p.Arg372Gln)
c.*106G>A (n.*106G>A)
c.983G>A (p.Arg328Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.113149165G>CCA7060689F10c.1115G>C (p.Arg372Pro)
c.*106G>C (n.*106G>C)
c.983G>C (p.Arg328Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149165G=CA2120140268F10c.1115G= (p.Arg372=)
c.*106G= (n.*106G=)
c.983G= (p.Arg328=)
13g.113149165G>TCA388793136F10c.1115G>T (p.Arg372Leu)
c.*106G>T (n.*106G>T)
c.983G>T (p.Arg328Leu)
13g.113149166G>ACA485424146F10c.1116G>A (p.Arg372=)
c.*107G>A (n.*107G>A)
c.984G>A (p.Arg328=)
 COSMIC
13g.113149166G>CCA485424147F10c.1116G>C (p.Arg372=)
c.*107G>C (n.*107G>C)
c.984G>C (p.Arg328=)
13g.113149166G>TCA485424145F10c.1116G>T (p.Arg372=)
c.*107G>T (n.*107G>T)
c.984G>T (p.Arg328=)
13g.113149167C>ACA388793139F10c.1117C>A (p.Gln373Lys)
c.*108C>A (n.*108C>A)
c.985C>A (p.Gln329Lys)
 COSMIC
13g.113149167C>GCA388793142F10c.1117C>G (p.Gln373Glu)
c.*108C>G (n.*108C>G)
c.985C>G (p.Gln329Glu)
13g.113149167C>TCA388793144F10c.1117C>T (p.Gln373Ter)
c.*108C>T (n.*108C>T)
c.985C>T (p.Gln329Ter)
13g.113149168A=CA2120140273F10c.1118A= (p.Gln373=)
c.*109A= (n.*109A=)
c.986A= (p.Gln329=)
13g.113149168A>CCA388793148F10c.1118A>C (p.Gln373Pro)
c.*109A>C (n.*109A>C)
c.986A>C (p.Gln329Pro)
13g.113149168A>GCA7060690F10c.1118A>G (p.Gln373Arg)
c.*109A>G (n.*109A>G)
c.986A>G (p.Gln329Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149168A>TCA388793151F10c.1118A>T (p.Gln373Leu)
c.*109A>T (n.*109A>T)
c.986A>T (p.Gln329Leu)
13g.113149169G>ACA7060691F10c.1119G>A (p.Gln373=)
c.*110G>A (n.*110G>A)
c.987G>A (p.Gln329=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113149169G>CCA388793156F10c.1119G>C (p.Gln373His)
c.*110G>C (n.*110G>C)
c.987G>C (p.Gln329His)
13g.113149169G=CA2120140276F10c.1119G= (p.Gln373=)
c.*110G= (n.*110G=)
c.987G= (p.Gln329=)
13g.113149169G>TCA388793154F10c.1119G>T (p.Gln373His)
c.*110G>T (n.*110G>T)
c.987G>T (p.Gln329His)
13g.113149170T>ACA388793159F10c.1120T>A (p.Ser374Thr)
c.*111T>A (n.*111T>A)
c.988T>A (p.Ser330Thr)
13g.113149170T>CCA256478700F10c.1120T>C (p.Ser374Pro)
c.*111T>C (n.*111T>C)
c.988T>C (p.Ser330Pro)
 ClinVar dbSNP COSMIC
13g.113149170T>GCA388793163F10c.1120T>G (p.Ser374Ala)
c.*111T>G (n.*111T>G)
c.988T>G (p.Ser330Ala)
13g.113149170T=CA2120140280F10c.1120T= (p.Ser374=)
c.*111T= (n.*111T=)
c.988T= (p.Ser330=)
13g.113149171C>ACA388793165F10c.1121C>A (p.Ser374Tyr)
c.*112C>A (n.*112C>A)
c.989C>A (p.Ser330Tyr)
13g.113149171C>GCA388793174F10c.1121C>G (p.Ser374Cys)
c.*112C>G (n.*112C>G)
c.989C>G (p.Ser330Cys)
13g.113149171C>TCA388793176F10c.1121C>T (p.Ser374Phe)
c.*112C>T (n.*112C>T)
c.989C>T (p.Ser330Phe)
13g.113149172C>ACA485424149F10c.1122C>A (p.Ser374=)
c.*113C>A (n.*113C>A)
c.990C>A (p.Ser330=)
13g.113149172C>GCA485424150F10c.1122C>G (p.Ser374=)
c.*113C>G (n.*113C>G)
c.990C>G (p.Ser330=)
13g.113149172C>TCA485424151F10c.1122C>T (p.Ser374=)
c.*113C>T (n.*113C>T)
c.990C>T (p.Ser330=)
13g.113149173A=CA2120140282F10c.1123A= (p.Thr375=)
c.*114A= (n.*114A=)
c.991A= (p.Thr331=)
13g.113149173A>CCA388793185F10c.1123A>C (p.Thr375Pro)
c.*114A>C (n.*114A>C)
c.991A>C (p.Thr331Pro)
 gnomAD v4
13g.113149173A>GCA388793180F10c.1123A>G (p.Thr375Ala)
c.*114A>G (n.*114A>G)
c.991A>G (p.Thr331Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.113149173A>TCA388793182F10c.1123A>T (p.Thr375Ser)
c.*114A>T (n.*114A>T)
c.991A>T (p.Thr331Ser)
13g.113149174C>ACA388793187F10c.1124C>A (p.Thr375Asn)
c.*115C>A (n.*115C>A)
c.992C>A (p.Thr331Asn)
13g.113149174C>GCA388793189F10c.1124C>G (p.Thr375Ser)
c.*115C>G (n.*115C>G)
c.992C>G (p.Thr331Ser)
13g.113149174C>TCA388793190F10c.1124C>T (p.Thr375Ile)
c.*115C>T (n.*115C>T)
c.992C>T (p.Thr331Ile)
13g.113149175C>ACA485424156F10c.1125C>A (p.Thr375=)
c.*116C>A (n.*116C>A)
c.993C>A (p.Thr331=)
13g.113149175C=CA2120140285F10c.1125C= (p.Thr375=)
c.*116C= (n.*116C=)
c.993C= (p.Thr331=)
13g.113149175C>GCA485424155F10c.1125C>G (p.Thr375=)
c.*116C>G (n.*116C>G)
c.993C>G (p.Thr331=)
13g.113149175C>TCA485424157F10c.1125C>T (p.Thr375=)
c.*116C>T (n.*116C>T)
c.993C>T (p.Thr331=)
 dbSNP
13g.113149176A>CCA485424158F10c.1126A>C (p.Arg376=)
c.*117A>C (n.*117A>C)
c.994A>C (p.Arg332=)
13g.113149176A>GCA388793193F10c.1126A>G (p.Arg376Gly)
c.*117A>G (n.*117A>G)
c.994A>G (p.Arg332Gly)
 gnomAD v4
13g.113149176A>TCA388793195F10c.1126A>T (p.Arg376Trp)
c.*117A>T (n.*117A>T)
c.994A>T (p.Arg332Trp)
13g.113149177G>ACA388793203F10c.1127G>A (p.Arg376Lys)
c.*118G>A (n.*118G>A)
c.995G>A (p.Arg332Lys)
13g.113149177G>CCA388793199F10c.1127G>C (p.Arg376Thr)
c.*118G>C (n.*118G>C)
c.995G>C (p.Arg332Thr)
 gnomAD v4
13g.113149177G>TCA388793201F10c.1127G>T (p.Arg376Met)
c.*118G>T (n.*118G>T)
c.995G>T (p.Arg332Met)
13g.113149178G>ACA256478702F10c.1128G>A (p.Arg376=)
c.*119G>A (n.*119G>A)
c.996G>A (p.Arg332=)
 dbSNP gnomAD v4
13g.113149178G>CCA388793207F10c.1128G>C (p.Arg376Ser)
c.*119G>C (n.*119G>C)
c.996G>C (p.Arg332Ser)
13g.113149178G=CA2120140286F10c.1128G= (p.Arg376=)
c.*119G= (n.*119G=)
c.996G= (p.Arg332=)
13g.113149178G>TCA388793210F10c.1128G>T (p.Arg376Ser)
c.*119G>T (n.*119G>T)
c.996G>T (p.Arg332Ser)
13g.113149179C>ACA388793213F10c.1129C>A (p.Leu377Ile)
c.*120C>A (n.*120C>A)
c.997C>A (p.Leu333Ile)
13g.113149179C>GCA388793215F10c.1129C>G (p.Leu377Val)
c.*120C>G (n.*120C>G)
c.997C>G (p.Leu333Val)
13g.113149179C>TCA388793219F10c.1129C>T (p.Leu377Phe)
c.*120C>T (n.*120C>T)
c.997C>T (p.Leu333Phe)
13g.113149180T>ACA388793221F10c.1130T>A (p.Leu377His)
c.*121T>A (n.*121T>A)
c.998T>A (p.Leu333His)
13g.113149180T>CCA388793222F10c.1130T>C (p.Leu377Pro)
c.*121T>C (n.*121T>C)
c.998T>C (p.Leu333Pro)
13g.113149180T>GCA388793233F10c.1130T>G (p.Leu377Arg)
c.*121T>G (n.*121T>G)
c.998T>G (p.Leu333Arg)
13g.113149181C>ACA485424160F10c.1131C>A (p.Leu377=)
c.*122C>A (n.*122C>A)
c.999C>A (p.Leu333=)
13g.113149181C=CA2120140287F10c.1131C= (p.Leu377=)
c.*122C= (n.*122C=)
c.999C= (p.Leu333=)
13g.113149181C>GCA485424161F10c.1131C>G (p.Leu377=)
c.*122C>G (n.*122C>G)
c.999C>G (p.Leu333=)
 gnomAD v4
13g.113149181C>TCA7060692F10c.1131C>T (p.Leu377=)
c.*122C>T (n.*122C>T)
c.999C>T (p.Leu333=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149182A=CA2120140291F10c.1132A= (p.Lys378=)
c.*123A= (n.*123A=)
c.1000A= (p.Lys334=)
13g.113149182A>CCA388793239F10c.1132A>C (p.Lys378Gln)
c.*123A>C (n.*123A>C)
c.1000A>C (p.Lys334Gln)
13g.113149182A>GCA388793241F10c.1132A>G (p.Lys378Glu)
c.*123A>G (n.*123A>G)
c.1000A>G (p.Lys334Glu)
13g.113149182A>TCA256478704F10c.1132A>T (p.Lys378Ter)
c.*123A>T (n.*123A>T)
c.1000A>T (p.Lys334Ter)
 dbSNP
13g.113149183A>CCA388793246F10c.1133A>C (p.Lys378Thr)
c.*124A>C (n.*124A>C)
c.1001A>C (p.Lys334Thr)
13g.113149183A>GCA388793252F10c.1133A>G (p.Lys378Arg)
c.*124A>G (n.*124A>G)
c.1001A>G (p.Lys334Arg)
 gnomAD v4
13g.113149183A>TCA388793249F10c.1133A>T (p.Lys378Met)
c.*124A>T (n.*124A>T)
c.1001A>T (p.Lys334Met)
13g.113149184G>ACA485424165F10c.1134G>A (p.Lys378=)
c.*125G>A (n.*125G>A)
c.1002G>A (p.Lys334=)
13g.113149184G>CCA388793254F10c.1134G>C (p.Lys378Asn)
c.*125G>C (n.*125G>C)
c.1002G>C (p.Lys334Asn)
 gnomAD v4
13g.113149184G>TCA388793258F10c.1134G>T (p.Lys378Asn)
c.*125G>T (n.*125G>T)
c.1002G>T (p.Lys334Asn)
13g.113149185A>CCA388793260F10c.1135A>C (p.Met379Leu)
c.*126A>C (n.*126A>C)
c.1003A>C (p.Met335Leu)
13g.113149185A>GCA388793261F10c.1135A>G (p.Met379Val)
c.*126A>G (n.*126A>G)
c.1003A>G (p.Met335Val)
 gnomAD v4
13g.113149185A>TCA388793264F10c.1135A>T (p.Met379Leu)
c.*126A>T (n.*126A>T)
c.1003A>T (p.Met335Leu)
13g.113149186T>ACA388793267F10c.1136T>A (p.Met379Lys)
c.*127T>A (n.*127T>A)
c.1004T>A (p.Met335Lys)
13g.113149186T>CCA7060693F10c.1136T>C (p.Met379Thr)
c.*127T>C (n.*127T>C)
c.1004T>C (p.Met335Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113149186T>GCA388793271F10c.1136T>G (p.Met379Arg)
c.*127T>G (n.*127T>G)
c.1004T>G (p.Met335Arg)
13g.113149186T=CA2120140294F10c.1136T= (p.Met379=)
c.*127T= (n.*127T=)
c.1004T= (p.Met335=)
13g.113149187G>ACA388793277F10c.1137G>A (p.Met379Ile)
c.*128G>A (n.*128G>A)
c.1005G>A (p.Met335Ile)
13g.113149187G>CCA388793279F10c.1137G>C (p.Met379Ile)
c.*128G>C (n.*128G>C)
c.1005G>C (p.Met335Ile)
13g.113149187G>TCA388793282F10c.1137G>T (p.Met379Ile)
c.*128G>T (n.*128G>T)
c.1005G>T (p.Met335Ile)
13g.113149188C>ACA388793285F10c.1138C>A (p.Leu380Met)
c.*129C>A (n.*129C>A)
c.1006C>A (p.Leu336Met)
13g.113149188C>GCA388793287F10c.1138C>G (p.Leu380Val)
c.*129C>G (n.*129C>G)
c.1006C>G (p.Leu336Val)
13g.113149188C>TCA485424169F10c.1138C>T (p.Leu380=)
c.*129C>T (n.*129C>T)
c.1006C>T (p.Leu336=)
 gnomAD v4
13g.113149189T>ACA388793288F10c.1139T>A (p.Leu380Gln)
c.*130T>A (n.*130T>A)
c.1007T>A (p.Leu336Gln)
13g.113149189T>CCA388793294F10c.1139T>C (p.Leu380Pro)
c.*130T>C (n.*130T>C)
c.1007T>C (p.Leu336Pro)
13g.113149189T>GCA388793291F10c.1139T>G (p.Leu380Arg)
c.*130T>G (n.*130T>G)
c.1007T>G (p.Leu336Arg)
13g.113149190G>ACA485424174F10c.1140G>A (p.Leu380=)
c.*131G>A (n.*131G>A)
c.1008G>A (p.Leu336=)
13g.113149190G>CCA485424173F10c.1140G>C (p.Leu380=)
c.*131G>C (n.*131G>C)
c.1008G>C (p.Leu336=)
13g.113149190G>TCA485424172F10c.1140G>T (p.Leu380=)
c.*131G>T (n.*131G>T)
c.1008G>T (p.Leu336=)
13g.113149191delCA2695219010F10c.1141del (p.Glu381ArgfsTer?)
c.*132del (n.*132del)
c.1009del (p.Glu337ArgfsTer?)
13g.113149191G>ACA388793298F10c.1141G>A (p.Glu381Lys)
c.*132G>A (n.*132G>A)
c.1009G>A (p.Glu337Lys)
13g.113149191G>CCA388793300F10c.1141G>C (p.Glu381Gln)
c.*132G>C (n.*132G>C)
c.1009G>C (p.Glu337Gln)
 gnomAD v4
13g.113149191G>TCA388793301F10c.1141G>T (p.Glu381Ter)
c.*132G>T (n.*132G>T)
c.1009G>T (p.Glu337Ter)
13g.113149192A=CA2120140296F10c.1142A= (p.Glu381=)
c.*133A= (n.*133A=)
c.1010A= (p.Glu337=)
13g.113149192A>CCA388793305F10c.1142A>C (p.Glu381Ala)
c.*133A>C (n.*133A>C)
c.1010A>C (p.Glu337Ala)
13g.113149192A>GCA388793307F10c.1142A>G (p.Glu381Gly)
c.*133A>G (n.*133A>G)
c.1010A>G (p.Glu337Gly)
13g.113149192A>TCA388793310F10c.1142A>T (p.Glu381Val)
c.*133A>T (n.*133A>T)
c.1010A>T (p.Glu337Val)
 dbSNP gnomAD v4
13g.113149193G>ACA485424176F10c.1143G>A (p.Glu381=)
c.*134G>A (n.*134G>A)
c.1011G>A (p.Glu337=)
13g.113149193G>CCA388793313F10c.1143G>C (p.Glu381Asp)
c.*134G>C (n.*134G>C)
c.1011G>C (p.Glu337Asp)
13g.113149193G>TCA388793316F10c.1143G>T (p.Glu381Asp)
c.*134G>T (n.*134G>T)
c.1011G>T (p.Glu337Asp)
13g.113149194G>ACA388793319F10c.1144G>A (p.Val382Met)
c.*135G>A (n.*135G>A)
c.1012G>A (p.Val338Met)
13g.113149194G>CCA388793321F10c.1144G>C (p.Val382Leu)
c.*135G>C (n.*135G>C)
c.1012G>C (p.Val338Leu)
13g.113149194G>TCA388793323F10c.1144G>T (p.Val382Leu)
c.*135G>T (n.*135G>T)
c.1012G>T (p.Val338Leu)
 gnomAD v4
13g.113149195T>ACA388793332F10c.1145T>A (p.Val382Glu)
c.*136T>A (n.*136T>A)
c.1013T>A (p.Val338Glu)
13g.113149195T>CCA388793329F10c.1145T>C (p.Val382Ala)
c.*136T>C (n.*136T>C)
c.1013T>C (p.Val338Ala)
 dbSNP gnomAD v4
13g.113149195T>GCA388793326F10c.1145T>G (p.Val382Gly)
c.*136T>G (n.*136T>G)
c.1013T>G (p.Val338Gly)
 dbSNP
13g.113149195T=CA2120140298F10c.1145T= (p.Val382=)
c.*136T= (n.*136T=)
c.1013T= (p.Val338=)
13g.113149196G>ACA485424181F10c.1146G>A (p.Val382=)
c.*137G>A (n.*137G>A)
c.1014G>A (p.Val338=)
13g.113149196G>CCA485424182F10c.1146G>C (p.Val382=)
c.*137G>C (n.*137G>C)
c.1014G>C (p.Val338=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.113149196G=CA2120140300F10c.1146G= (p.Val382=)
c.*137G= (n.*137G=)
c.1014G= (p.Val338=)
13g.113149196G>TCA485424183F10c.1146G>T (p.Val382=)
c.*137G>T (n.*137G>T)
c.1014G>T (p.Val338=)
13g.113149197C>ACA388793340F10c.1147C>A (p.Pro383Thr)
c.*138C>A (n.*138C>A)
c.1015C>A (p.Pro339Thr)
13g.113149197C=CA2120140302F10c.1147C= (p.Pro383=)
c.*138C= (n.*138C=)
c.1015C= (p.Pro339=)
13g.113149197C>GCA388793335F10c.1147C>G (p.Pro383Ala)
c.*138C>G (n.*138C>G)
c.1015C>G (p.Pro339Ala)
13g.113149197C>TCA256478706F10c.1147C>T (p.Pro383Ser)
c.*138C>T (n.*138C>T)
c.1015C>T (p.Pro339Ser)
 ClinVar dbSNP gnomAD v4

Number of alleles fetched