Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.24259119A=CA2123854573TGM1c.1115T= (p.Val372=)
c.-28-731T= (n.-28-731T=)
c.188T= (p.Val63=)
14g.24259119A>CCA389263994TGM1c.1115T>G (p.Val372Gly)
c.-28-731T>G (n.-28-731T>G)
c.188T>G (p.Val63Gly)
14g.24259119A>GCA389263992TGM1c.1115T>C (p.Val372Ala)
c.-28-731T>C (n.-28-731T>C)
c.188T>C (p.Val63Ala)
 dbSNP
14g.24259119A>TCA389263993TGM1c.1115T>A (p.Val372Asp)
c.-28-731T>A (n.-28-731T>A)
c.188T>A (p.Val63Asp)
14g.24259120C>ACA389263995TGM1c.1114G>T (p.Val372Phe)
c.-28-732G>T (n.-28-732G>T)
c.187G>T (p.Val63Phe)
14g.24259120C=CA2123854574TGM1c.1114G= (p.Val372=)
c.-28-732G= (n.-28-732G=)
c.187G= (p.Val63=)
14g.24259120C>GCA389264002TGM1c.1114G>C (p.Val372Leu)
c.-28-732G>C (n.-28-732G>C)
c.187G>C (p.Val63Leu)
14g.24259120C>TCA7131188TGM1c.1114G>A (p.Val372Ile)
c.-28-732G>A (n.-28-732G>A)
c.187G>A (p.Val63Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24259121G>ACA7131189TGM1c.1113C>T (p.Ser371=)
c.-28-733C>T (n.-28-733C>T)
c.186C>T (p.Ser62=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24259121G>CCA485663858TGM1c.1113C>G (p.Ser371=)
c.-28-733C>G (n.-28-733C>G)
c.186C>G (p.Ser62=)
14g.24259121G=CA2123854575TGM1c.1113C= (p.Ser371=)
c.-28-733C= (n.-28-733C=)
c.186C= (p.Ser62=)
14g.24259121G>TCA257898510TGM1c.1113C>A (p.Ser371=)
c.-28-733C>A (n.-28-733C>A)
c.186C>A (p.Ser62=)
 ClinVar dbSNP gnomAD v4
14g.24259122G>ACA7131190TGM1c.1112C>T (p.Ser371Phe)
c.-28-734C>T (n.-28-734C>T)
c.185C>T (p.Ser62Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.24259122G>CCA389264019TGM1c.1112C>G (p.Ser371Cys)
c.-28-734C>G (n.-28-734C>G)
c.185C>G (p.Ser62Cys)
14g.24259122G=CA2123854576TGM1c.1112C= (p.Ser371=)
c.-28-734C= (n.-28-734C=)
c.185C= (p.Ser62=)
14g.24259122G>TCA389264029TGM1c.1112C>A (p.Ser371Tyr)
c.-28-734C>A (n.-28-734C>A)
c.185C>A (p.Ser62Tyr)
14g.24259123A>CCA389264038TGM1c.1111T>G (p.Ser371Ala)
c.-28-735T>G (n.-28-735T>G)
c.184T>G (p.Ser62Ala)
14g.24259123A>GCA389264040TGM1c.1111T>C (p.Ser371Pro)
c.-28-735T>C (n.-28-735T>C)
c.184T>C (p.Ser62Pro)
14g.24259123A>TCA389264045TGM1c.1111T>A (p.Ser371Thr)
c.-28-735T>A (n.-28-735T>A)
c.184T>A (p.Ser62Thr)
14g.24259124A>CCA389264059TGM1c.1110T>G (p.Tyr370Ter)
c.-28-736T>G (n.-28-736T>G)
c.183T>G (p.Tyr61Ter)
14g.24259124A>GCA485663862TGM1c.1110T>C (p.Tyr370=)
c.-28-736T>C (n.-28-736T>C)
c.183T>C (p.Tyr61=)
14g.24259124A>TCA389264075TGM1c.1110T>A (p.Tyr370Ter)
c.-28-736T>A (n.-28-736T>A)
c.183T>A (p.Tyr61Ter)
14g.24259125T>ACA389264089TGM1c.1109A>T (p.Tyr370Phe)
c.-28-737A>T (n.-28-737A>T)
c.182A>T (p.Tyr61Phe)
 gnomAD v4
14g.24259125T>CCA389264111TGM1c.1109A>G (p.Tyr370Cys)
c.-28-737A>G (n.-28-737A>G)
c.182A>G (p.Tyr61Cys)
14g.24259125T>GCA389264106TGM1c.1109A>C (p.Tyr370Ser)
c.-28-737A>C (n.-28-737A>C)
c.182A>C (p.Tyr61Ser)
14g.24259126A=CA2123854577TGM1c.1108T= (p.Tyr370=)
c.-28-738T= (n.-28-738T=)
c.181T= (p.Tyr61=)
14g.24259126A>CCA389264116TGM1c.1108T>G (p.Tyr370Asp)
c.-28-738T>G (n.-28-738T>G)
c.181T>G (p.Tyr61Asp)
14g.24259126A>GCA7131191TGM1c.1108T>C (p.Tyr370His)
c.-28-738T>C (n.-28-738T>C)
c.181T>C (p.Tyr61His)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.24259126A>TCA389264117TGM1c.1108T>A (p.Tyr370Asn)
c.-28-738T>A (n.-28-738T>A)
c.181T>A (p.Tyr61Asn)
14g.24259127T>ACA485663865TGM1c.1107A>T (p.Gly369=)
c.-28-739A>T (n.-28-739A>T)
c.180A>T (p.Gly60=)
14g.24259127T>CCA485663866TGM1c.1107A>G (p.Gly369=)
c.-28-739A>G (n.-28-739A>G)
c.180A>G (p.Gly60=)
14g.24259127T>GCA485663867TGM1c.1107A>C (p.Gly369=)
c.-28-739A>C (n.-28-739A>C)
c.180A>C (p.Gly60=)
14g.24259127dupCA2695219170TGM1c.1107dup (p.Tyr370IlefsTer?)
c.-28-739dup (n.-28-739dup)
c.180dup (p.Tyr61IlefsTer?)
14g.24259128C>ACA389264126TGM1c.1106G>T (p.Gly369Val)
c.-28-740G>T (n.-28-740G>T)
c.179G>T (p.Gly60Val)
14g.24259128C>GCA389264127TGM1c.1106G>C (p.Gly369Ala)
c.-28-740G>C (n.-28-740G>C)
c.179G>C (p.Gly60Ala)
14g.24259128C>TCA389264128TGM1c.1106G>A (p.Gly369Glu)
c.-28-740G>A (n.-28-740G>A)
c.179G>A (p.Gly60Glu)
14g.24259130delCA2695219172TGM1c.1106del (p.Gly369AspfsTer15)
c.-28-740del (n.-28-740del)
c.179del (p.Gly60AspfsTer15)
14g.24259129C>ACA389264131TGM1c.1105G>T (p.Gly369Ter)
c.-28-741G>T (n.-28-741G>T)
c.178G>T (p.Gly60Ter)
14g.24259129C>GCA389264135TGM1c.1105G>C (p.Gly369Arg)
c.-28-741G>C (n.-28-741G>C)
c.178G>C (p.Gly60Arg)
14g.24259129C>TCA389264143TGM1c.1105G>A (p.Gly369Arg)
c.-28-741G>A (n.-28-741G>A)
c.178G>A (p.Gly60Arg)
 gnomAD v4
14g.24259130C>ACA485663869TGM1c.1104G>T (p.Thr368=)
c.-28-742G>T (n.-28-742G>T)
c.177G>T (p.Thr59=)
14g.24259130C=CA2123854578TGM1c.1104G= (p.Thr368=)
c.-28-742G= (n.-28-742G=)
c.177G= (p.Thr59=)
14g.24259130C>GCA485663870TGM1c.1104G>C (p.Thr368=)
c.-28-742G>C (n.-28-742G>C)
c.177G>C (p.Thr59=)
 dbSNP gnomAD v3 gnomAD v4
14g.24259130C>TCA257898516TGM1c.1104G>A (p.Thr368=)
c.-28-742G>A (n.-28-742G>A)
c.177G>A (p.Thr59=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
14g.24259131G>ACA7131192TGM1c.1103C>T (p.Thr368Met)
c.-28-743C>T (n.-28-743C>T)
c.176C>T (p.Thr59Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24259131G>CCA389264148TGM1c.1103C>G (p.Thr368Arg)
c.-28-743C>G (n.-28-743C>G)
c.176C>G (p.Thr59Arg)
 ClinVar dbSNP gnomAD v4
14g.24259131G=CA2123854579TGM1c.1103C= (p.Thr368=)
c.-28-743C= (n.-28-743C=)
c.176C= (p.Thr59=)
14g.24259131G>TCA389264149TGM1c.1103C>A (p.Thr368Lys)
c.-28-743C>A (n.-28-743C>A)
c.176C>A (p.Thr59Lys)
14g.24259132T>ACA389264163TGM1c.1102A>T (p.Thr368Ser)
c.-28-744A>T (n.-28-744A>T)
c.175A>T (p.Thr59Ser)
14g.24259132T>CCA389264167TGM1c.1102A>G (p.Thr368Ala)
c.-28-744A>G (n.-28-744A>G)
c.175A>G (p.Thr59Ala)
 ClinVar dbSNP COSMIC
14g.24259132T>GCA389264150TGM1c.1102A>C (p.Thr368Pro)
c.-28-744A>C (n.-28-744A>C)
c.175A>C (p.Thr59Pro)
14g.24259132T=CA2123854580TGM1c.1102A= (p.Thr368=)
c.-28-744A= (n.-28-744A=)
c.175A= (p.Thr59=)
14g.24259133G>ACA485663871TGM1c.1101C>T (p.Arg367=)
c.-28-745C>T (n.-28-745C>T)
c.174C>T (p.Arg58=)
14g.24259133G>CCA485663872TGM1c.1101C>G (p.Arg367=)
c.-28-745C>G (n.-28-745C>G)
c.174C>G (p.Arg58=)
14g.24259133G>TCA485663874TGM1c.1101C>A (p.Arg367=)
c.-28-745C>A (n.-28-745C>A)
c.174C>A (p.Arg58=)
14g.24259134C>ACA389264170TGM1c.1100G>T (p.Arg367Leu)
c.-28-746G>T (n.-28-746G>T)
c.173G>T (p.Arg58Leu)
 dbSNP
14g.24259134C=CA2123854581TGM1c.1100G= (p.Arg367=)
c.-28-746G= (n.-28-746G=)
c.173G= (p.Arg58=)
14g.24259134C>GCA389264174TGM1c.1100G>C (p.Arg367Pro)
c.-28-746G>C (n.-28-746G>C)
c.173G>C (p.Arg58Pro)
14g.24259134C>TCA7131193TGM1c.1100G>A (p.Arg367His)
c.-28-746G>A (n.-28-746G>A)
c.173G>A (p.Arg58His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24259135G>ACA7131194TGM1c.1099C>T (p.Arg367Cys)
c.-28-747C>T (n.-28-747C>T)
c.172C>T (p.Arg58Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.24259135G>CCA389264228TGM1c.1099C>G (p.Arg367Gly)
c.-28-747C>G (n.-28-747C>G)
c.172C>G (p.Arg58Gly)
14g.24259135G=CA2123854582TGM1c.1099C= (p.Arg367=)
c.-28-747C= (n.-28-747C=)
c.172C= (p.Arg58=)
14g.24259135G>TCA389264229TGM1c.1099C>A (p.Arg367Ser)
c.-28-747C>A (n.-28-747C>A)
c.172C>A (p.Arg58Ser)
14g.24259136T>ACA485663876TGM1c.1098A>T (p.Leu366=)
c.-28-748A>T (n.-28-748A>T)
c.171A>T (p.Leu57=)
14g.24259136T>CCA485663877TGM1c.1098A>G (p.Leu366=)
c.-28-748A>G (n.-28-748A>G)
c.171A>G (p.Leu57=)
14g.24259136T>GCA485663879TGM1c.1098A>C (p.Leu366=)
c.-28-748A>C (n.-28-748A>C)
c.171A>C (p.Leu57=)
14g.24259137A>CCA389264238TGM1c.1097T>G (p.Leu366Arg)
c.-28-749T>G (n.-28-749T>G)
c.170T>G (p.Leu57Arg)
14g.24259137A>GCA389264240TGM1c.1097T>C (p.Leu366Pro)
c.-28-749T>C (n.-28-749T>C)
c.170T>C (p.Leu57Pro)
 gnomAD v4
14g.24259137A>TCA389264245TGM1c.1097T>A (p.Leu366Gln)
c.-28-749T>A (n.-28-749T>A)
c.170T>A (p.Leu57Gln)
14g.24259138G>ACA485663880TGM1c.1096C>T (p.Leu366=)
c.-28-750C>T (n.-28-750C>T)
c.169C>T (p.Leu57=)
 gnomAD v4
14g.24259138G>CCA389264250TGM1c.1096C>G (p.Leu366Val)
c.-28-750C>G (n.-28-750C>G)
c.169C>G (p.Leu57Val)
 gnomAD v4
14g.24259138G>TCA389264251TGM1c.1096C>A (p.Leu366Ile)
c.-28-750C>A (n.-28-750C>A)
c.169C>A (p.Leu57Ile)
 COSMIC
14g.24259139G>ACA485663881TGM1c.1095C>T (p.Tyr365=)
c.-28-751C>T (n.-28-751C>T)
c.168C>T (p.Tyr56=)
14g.24259139G>CCA389264252TGM1c.1095C>G (p.Tyr365Ter)
c.-28-751C>G (n.-28-751C>G)
c.168C>G (p.Tyr56Ter)
14g.24259139G>TCA389264253TGM1c.1095C>A (p.Tyr365Ter)
c.-28-751C>A (n.-28-751C>A)
c.168C>A (p.Tyr56Ter)
14g.24259140T>ACA389264284TGM1c.1094A>T (p.Tyr365Phe)
c.-28-752A>T (n.-28-752A>T)
c.167A>T (p.Tyr56Phe)
14g.24259140T>CCA7131195TGM1c.1094A>G (p.Tyr365Cys)
c.-28-752A>G (n.-28-752A>G)
c.167A>G (p.Tyr56Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24259140T>GCA389264257TGM1c.1094A>C (p.Tyr365Ser)
c.-28-752A>C (n.-28-752A>C)
c.167A>C (p.Tyr56Ser)
14g.24259140T=CA2123854583TGM1c.1094A= (p.Tyr365=)
c.-28-752A= (n.-28-752A=)
c.167A= (p.Tyr56=)
14g.24259141A>CCA389264302TGM1c.1093T>G (p.Tyr365Asp)
c.-28-753T>G (n.-28-753T>G)
c.166T>G (p.Tyr56Asp)
14g.24259141A>GCA389264304TGM1c.1093T>C (p.Tyr365His)
c.-28-753T>C (n.-28-753T>C)
c.166T>C (p.Tyr56His)
14g.24259141A>TCA389264310TGM1c.1093T>A (p.Tyr365Asn)
c.-28-753T>A (n.-28-753T>A)
c.166T>A (p.Tyr56Asn)
14g.24259144_24259148delCA2573053882TGM1c.1089_1093del (p.Ser364ProfsTer?)
c.-28-757_-28-753del (n.-28-757_-28-753del)
c.162_166del (p.Ser55ProfsTer?)
 dbSNP
14g.24259142G>ACA7131196TGM1c.1092C>T (p.Ser364=)
c.-28-754C>T (n.-28-754C>T)
c.165C>T (p.Ser55=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.24259142G>CCA7131197TGM1c.1092C>G (p.Ser364Arg)
c.-28-754C>G (n.-28-754C>G)
c.165C>G (p.Ser55Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.24259142G=CA2123854584TGM1c.1092C= (p.Ser364=)
c.-28-754C= (n.-28-754C=)
c.165C= (p.Ser55=)
14g.24259142G>TCA389264320TGM1c.1092C>A (p.Ser364Arg)
c.-28-754C>A (n.-28-754C>A)
c.165C>A (p.Ser55Arg)
14g.24259143C>ACA389264324TGM1c.1091G>T (p.Ser364Ile)
c.-28-755G>T (n.-28-755G>T)
c.164G>T (p.Ser55Ile)
14g.24259143C>GCA389264325TGM1c.1091G>C (p.Ser364Thr)
c.-28-755G>C (n.-28-755G>C)
c.164G>C (p.Ser55Thr)
14g.24259143C>TCA389264326TGM1c.1091G>A (p.Ser364Asn)
c.-28-755G>A (n.-28-755G>A)
c.164G>A (p.Ser55Asn)
14g.24259143_24259144delCA2580087979TGM1c.1090_1091del (p.Ser364LeufsTer?)
c.-28-756_-28-755del (n.-28-756_-28-755del)
c.163_164del (p.Ser55LeufsTer?)
 ClinVar
14g.24259143_24259148delCA2695219173TGM1c.1086_1091del (p.Leu363_Ser364del)
c.-28-760_-28-755del (n.-28-760_-28-755del)
c.159_164del (p.Leu54_Ser55del)
14g.24259144T>ACA389264327TGM1c.1090A>T (p.Ser364Cys)
c.-28-756A>T (n.-28-756A>T)
c.163A>T (p.Ser55Cys)
14g.24259144T>CCA389264331TGM1c.1090A>G (p.Ser364Gly)
c.-28-756A>G (n.-28-756A>G)
c.163A>G (p.Ser55Gly)
14g.24259144T>GCA389264335TGM1c.1090A>C (p.Ser364Arg)
c.-28-756A>C (n.-28-756A>C)
c.163A>C (p.Ser55Arg)
14g.24259145A>CCA485663889TGM1c.1089T>G (p.Leu363=)
c.-28-757T>G (n.-28-757T>G)
c.162T>G (p.Leu54=)
14g.24259145A>GCA485663890TGM1c.1089T>C (p.Leu363=)
c.-28-757T>C (n.-28-757T>C)
c.162T>C (p.Leu54=)
14g.24259145A>TCA485663887TGM1c.1089T>A (p.Leu363=)
c.-28-757T>A (n.-28-757T>A)
c.162T>A (p.Leu54=)
14g.24259146A>CCA389264340TGM1c.1088T>G (p.Leu363Arg)
c.-28-758T>G (n.-28-758T>G)
c.161T>G (p.Leu54Arg)
14g.24259146A>GCA389264342TGM1c.1088T>C (p.Leu363Pro)
c.-28-758T>C (n.-28-758T>C)
c.161T>C (p.Leu54Pro)
 ClinVar
14g.24259146A>TCA389264344TGM1c.1088T>A (p.Leu363His)
c.-28-758T>A (n.-28-758T>A)
c.161T>A (p.Leu54His)
14g.24259147G>ACA389264351TGM1c.1087C>T (p.Leu363Phe)
c.-28-759C>T (n.-28-759C>T)
c.160C>T (p.Leu54Phe)
14g.24259147G>CCA389264362TGM1c.1087C>G (p.Leu363Val)
c.-28-759C>G (n.-28-759C>G)
c.160C>G (p.Leu54Val)
14g.24259147G>TCA389264348TGM1c.1087C>A (p.Leu363Ile)
c.-28-759C>A (n.-28-759C>A)
c.160C>A (p.Leu54Ile)
14g.24259148C>ACA485663892TGM1c.1086G>T (p.Leu362=)
c.-28-760G>T (n.-28-760G>T)
c.159G>T (p.Leu53=)
14g.24259148C>GCA485663893TGM1c.1086G>C (p.Leu362=)
c.-28-760G>C (n.-28-760G>C)
c.159G>C (p.Leu53=)
14g.24259148C>TCA485663895TGM1c.1086G>A (p.Leu362=)
c.-28-760G>A (n.-28-760G>A)
c.159G>A (p.Leu53=)
 ClinVar dbSNP gnomAD v4
14g.24259149A>CCA389264382TGM1c.1085T>G (p.Leu362Arg)
c.-28-761T>G (n.-28-761T>G)
c.158T>G (p.Leu53Arg)
14g.24259149A>GCA389264383TGM1c.1085T>C (p.Leu362Pro)
c.-28-761T>C (n.-28-761T>C)
c.158T>C (p.Leu53Pro)
14g.24259149A>TCA389264384TGM1c.1085T>A (p.Leu362Gln)
c.-28-761T>A (n.-28-761T>A)
c.158T>A (p.Leu53Gln)
14g.24259150G>ACA485663896TGM1c.1084C>T (p.Leu362=)
c.-28-762C>T (n.-28-762C>T)
c.157C>T (p.Leu53=)
14g.24259150G>CCA389264388TGM1c.1084C>G (p.Leu362Val)
c.-28-762C>G (n.-28-762C>G)
c.157C>G (p.Leu53Val)
14g.24259150G>TCA389264392TGM1c.1084C>A (p.Leu362Met)
c.-28-762C>A (n.-28-762C>A)
c.157C>A (p.Leu53Met)
14g.24259151delCA2695219174TGM1c.1084del (p.Leu362CysfsTer22)
c.-28-762del (n.-28-762del)
c.157del (p.Leu53CysfsTer22)
14g.24259151G>ACA485663901TGM1c.1083C>T (p.Ile361=)
c.-28-763C>T (n.-28-763C>T)
c.156C>T (p.Ile52=)
 ClinVar dbSNP
14g.24259151G>CCA389264398TGM1c.1083C>G (p.Ile361Met)
c.-28-763C>G (n.-28-763C>G)
c.156C>G (p.Ile52Met)
14g.24259151G>TCA485663898TGM1c.1083C>A (p.Ile361=)
c.-28-763C>A (n.-28-763C>A)
c.156C>A (p.Ile52=)
14g.24259152A=CA2123854585TGM1c.1082T= (p.Ile361=)
c.-28-764T= (n.-28-764T=)
c.155T= (p.Ile52=)
14g.24259152A>CCA389264404TGM1c.1082T>G (p.Ile361Ser)
c.-28-764T>G (n.-28-764T>G)
c.155T>G (p.Ile52Ser)
14g.24259152A>GCA16042852TGM1c.1082T>C (p.Ile361Thr)
c.-28-764T>C (n.-28-764T>C)
c.155T>C (p.Ile52Thr)
 ClinVar dbSNP gnomAD v4
14g.24259152A>TCA389264402TGM1c.1082T>A (p.Ile361Asn)
c.-28-764T>A (n.-28-764T>A)
c.155T>A (p.Ile52Asn)
14g.24259153T>ACA389264409TGM1c.1081A>T (p.Ile361Phe)
c.-28-765A>T (n.-28-765A>T)
c.154A>T (p.Ile52Phe)
 gnomAD v4
14g.24259153T>CCA7131198TGM1c.1081A>G (p.Ile361Val)
c.-28-765A>G (n.-28-765A>G)
c.154A>G (p.Ile52Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24259153T>GCA389264432TGM1c.1081A>C (p.Ile361Leu)
c.-28-765A>C (n.-28-765A>C)
c.154A>C (p.Ile52Leu)
14g.24259153T=CA2123854586TGM1c.1081A= (p.Ile361=)
c.-28-765A= (n.-28-765A=)
c.154A= (p.Ile52=)
14g.24259154C>ACA389264444TGM1c.1080G>T (p.Glu360Asp)
c.-28-766G>T (n.-28-766G>T)
c.153G>T (p.Glu51Asp)
14g.24259154C>GCA389264456TGM1c.1080G>C (p.Glu360Asp)
c.-28-766G>C (n.-28-766G>C)
c.153G>C (p.Glu51Asp)
14g.24259154C>TCA485663904TGM1c.1080G>A (p.Glu360=)
c.-28-766G>A (n.-28-766G>A)
c.153G>A (p.Glu51=)
14g.24259155T>ACA389264464TGM1c.1079A>T (p.Glu360Val)
c.-28-767A>T (n.-28-767A>T)
c.152A>T (p.Glu51Val)
14g.24259155T>CCA389264492TGM1c.1079A>G (p.Glu360Gly)
c.-28-767A>G (n.-28-767A>G)
c.152A>G (p.Glu51Gly)
14g.24259155T>GCA389264489TGM1c.1079A>C (p.Glu360Ala)
c.-28-767A>C (n.-28-767A>C)
c.152A>C (p.Glu51Ala)
14g.24259156C>ACA389264515TGM1c.1078G>T (p.Glu360Ter)
c.-28-768G>T (n.-28-768G>T)
c.151G>T (p.Glu51Ter)
14g.24259156C>GCA389264522TGM1c.1078G>C (p.Glu360Gln)
c.-28-768G>C (n.-28-768G>C)
c.151G>C (p.Glu51Gln)
14g.24259156C>TCA389264528TGM1c.1078G>A (p.Glu360Lys)
c.-28-768G>A (n.-28-768G>A)
c.151G>A (p.Glu51Lys)
14g.24259164_24259176delCA2695219175TGM1c.1066_1078del (p.Val356ArgfsTer24)
c.-28-780_-28-768del (n.-28-780_-28-768del)
c.139_151del (p.Val47ArgfsTer24)
14g.24259157C>ACA485663908TGM1c.1077G>T (p.Val359=)
c.-28-769G>T (n.-28-769G>T)
c.150G>T (p.Val50=)
14g.24259157C>GCA485663911TGM1c.1077G>C (p.Val359=)
c.-28-769G>C (n.-28-769G>C)
c.150G>C (p.Val50=)
14g.24259157C>TCA485663912TGM1c.1077G>A (p.Val359=)
c.-28-769G>A (n.-28-769G>A)
c.150G>A (p.Val50=)
 ClinVar dbSNP
14g.24259158A=CA2123854587TGM1c.1076T= (p.Val359=)
c.-28-770T= (n.-28-770T=)
c.149T= (p.Val50=)
14g.24259158A>CCA389264549TGM1c.1076T>G (p.Val359Gly)
c.-28-770T>G (n.-28-770T>G)
c.149T>G (p.Val50Gly)
14g.24259158A>GCA389264561TGM1c.1076T>C (p.Val359Ala)
c.-28-770T>C (n.-28-770T>C)
c.149T>C (p.Val50Ala)
 dbSNP
14g.24259158A>TCA389264570TGM1c.1076T>A (p.Val359Glu)
c.-28-770T>A (n.-28-770T>A)
c.149T>A (p.Val50Glu)
14g.24259159C>ACA389264588TGM1c.1075G>T (p.Val359Leu)
c.-28-771G>T (n.-28-771G>T)
c.148G>T (p.Val50Leu)
14g.24259159C=CA2123854588TGM1c.1075G= (p.Val359=)
c.-28-771G= (n.-28-771G=)
c.148G= (p.Val50=)
14g.24259159C>GCA389264596TGM1c.1075G>C (p.Val359Leu)
c.-28-771G>C (n.-28-771G>C)
c.148G>C (p.Val50Leu)
14g.24259159C>TCA261154TGM1c.1075G>A (p.Val359Met)
c.-28-771G>A (n.-28-771G>A)
c.148G>A (p.Val50Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24259160delCA2695219177TGM1c.1074del (p.Ser358ArgfsTer26)
c.-28-772del (n.-28-772del)
c.147del (p.Ser49ArgfsTer26)
14g.24259160G>ACA485663916TGM1c.1074C>T (p.Ser358=)
c.-28-772C>T (n.-28-772C>T)
c.147C>T (p.Ser49=)
 ClinVar dbSNP gnomAD v4
14g.24259160G>CCA7131199TGM1c.1074C>G (p.Ser358Arg)
c.-28-772C>G (n.-28-772C>G)
c.147C>G (p.Ser49Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.24259160G=CA2123854589TGM1c.1074C= (p.Ser358=)
c.-28-772C= (n.-28-772C=)
c.147C= (p.Ser49=)
14g.24259160G>TCA389264639TGM1c.1074C>A (p.Ser358Arg)
c.-28-772C>A (n.-28-772C>A)
c.147C>A (p.Ser49Arg)
14g.24259161C>ACA389264652TGM1c.1073G>T (p.Ser358Ile)
c.-28-773G>T (n.-28-773G>T)
c.146G>T (p.Ser49Ile)
14g.24259161C>GCA389264666TGM1c.1073G>C (p.Ser358Thr)
c.-28-773G>C (n.-28-773G>C)
c.146G>C (p.Ser49Thr)
14g.24259161C>TCA389264663TGM1c.1073G>A (p.Ser358Asn)
c.-28-773G>A (n.-28-773G>A)
c.146G>A (p.Ser49Asn)
 ClinVar
14g.24259162T>ACA389264672TGM1c.1072A>T (p.Ser358Cys)
c.-28-774A>T (n.-28-774A>T)
c.145A>T (p.Ser49Cys)
14g.24259162T>CCA389264685TGM1c.1072A>G (p.Ser358Gly)
c.-28-774A>G (n.-28-774A>G)
c.145A>G (p.Ser49Gly)
14g.24259162T>GCA389264684TGM1c.1072A>C (p.Ser358Arg)
c.-28-774A>C (n.-28-774A>C)
c.145A>C (p.Ser49Arg)
14g.24259163G>ACA485663926TGM1c.1071C>T (p.Gly357=)
c.-28-775C>T (n.-28-775C>T)
c.144C>T (p.Gly48=)
14g.24259163G>CCA485663928TGM1c.1071C>G (p.Gly357=)
c.-28-775C>G (n.-28-775C>G)
c.144C>G (p.Gly48=)
14g.24259163G>TCA485663929TGM1c.1071C>A (p.Gly357=)
c.-28-775C>A (n.-28-775C>A)
c.144C>A (p.Gly48=)
14g.24259164C>ACA389264686TGM1c.1070G>T (p.Gly357Val)
c.-28-776G>T (n.-28-776G>T)
c.143G>T (p.Gly48Val)
14g.24259164C>GCA389264689TGM1c.1070G>C (p.Gly357Ala)
c.-28-776G>C (n.-28-776G>C)
c.143G>C (p.Gly48Ala)
14g.24259164C>TCA389264694TGM1c.1070G>A (p.Gly357Asp)
c.-28-776G>A (n.-28-776G>A)
c.143G>A (p.Gly48Asp)
14g.24259169_24259172delCA2624346242TGM1c.1067_1070del (p.Val356AlafsTer27)
c.-28-779_-28-776del (n.-28-779_-28-776del)
c.140_143del (p.Val47AlafsTer27)
 gnomAD v4
14g.24259165C>ACA389264702TGM1c.1069G>T (p.Gly357Cys)
c.-28-777G>T (n.-28-777G>T)
c.142G>T (p.Gly48Cys)
14g.24259165C=CA2123854590TGM1c.1069G= (p.Gly357=)
c.-28-777G= (n.-28-777G=)
c.142G= (p.Gly48=)
14g.24259165C>GCA389264712TGM1c.1069G>C (p.Gly357Arg)
c.-28-777G>C (n.-28-777G>C)
c.142G>C (p.Gly48Arg)
14g.24259165C>TCA7131200TGM1c.1069G>A (p.Gly357Ser)
c.-28-777G>A (n.-28-777G>A)
c.142G>A (p.Gly48Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.24259166C>ACA485663943TGM1c.1068G>T (p.Val356=)
c.-28-778G>T (n.-28-778G>T)
c.141G>T (p.Val47=)
14g.24259166C>GCA485663940TGM1c.1068G>C (p.Val356=)
c.-28-778G>C (n.-28-778G>C)
c.141G>C (p.Val47=)
14g.24259166C>TCA485663938TGM1c.1068G>A (p.Val356=)
c.-28-778G>A (n.-28-778G>A)
c.141G>A (p.Val47=)
14g.24259167A>CCA389264717TGM1c.1067T>G (p.Val356Gly)
c.-28-779T>G (n.-28-779T>G)
c.140T>G (p.Val47Gly)
14g.24259167A>GCA389264718TGM1c.1067T>C (p.Val356Ala)
c.-28-779T>C (n.-28-779T>C)
c.140T>C (p.Val47Ala)
14g.24259167A>TCA389264719TGM1c.1067T>A (p.Val356Glu)
c.-28-779T>A (n.-28-779T>A)
c.140T>A (p.Val47Glu)
14g.24259168C>ACA389264725TGM1c.1066G>T (p.Val356Leu)
c.-28-780G>T (n.-28-780G>T)
c.139G>T (p.Val47Leu)
14g.24259168C>GCA389264726TGM1c.1066G>C (p.Val356Leu)
c.-28-780G>C (n.-28-780G>C)
c.139G>C (p.Val47Leu)
 gnomAD v4
14g.24259168C>TCA389264727TGM1c.1066G>A (p.Val356Met)
c.-28-780G>A (n.-28-780G>A)
c.139G>A (p.Val47Met)
14g.24259169C>ACA389264742TGM1c.1065G>T (p.Trp355Cys)
c.-28-781G>T (n.-28-781G>T)
c.138G>T (p.Trp46Cys)
 gnomAD v4
14g.24259169C>GCA389264729TGM1c.1065G>C (p.Trp355Cys)
c.-28-781G>C (n.-28-781G>C)
c.138G>C (p.Trp46Cys)
14g.24259169C>TCA389264732TGM1c.1065G>A (p.Trp355Ter)
c.-28-781G>A (n.-28-781G>A)
c.138G>A (p.Trp46Ter)
14g.24259170C>ACA389264752TGM1c.1064G>T (p.Trp355Leu)
c.-28-782G>T (n.-28-782G>T)
c.137G>T (p.Trp46Leu)
14g.24259170C>GCA389264755TGM1c.1064G>C (p.Trp355Ser)
c.-28-782G>C (n.-28-782G>C)
c.137G>C (p.Trp46Ser)
14g.24259170C>TCA389264757TGM1c.1064G>A (p.Trp355Ter)
c.-28-782G>A (n.-28-782G>A)
c.137G>A (p.Trp46Ter)
14g.24259171A>CCA389264758TGM1c.1063T>G (p.Trp355Gly)
c.-28-783T>G (n.-28-783T>G)
c.136T>G (p.Trp46Gly)
14g.24259171A>GCA389264759TGM1c.1063T>C (p.Trp355Arg)
c.-28-783T>C (n.-28-783T>C)
c.136T>C (p.Trp46Arg)
14g.24259171A>TCA389264761TGM1c.1063T>A (p.Trp355Arg)
c.-28-783T>A (n.-28-783T>A)
c.136T>A (p.Trp46Arg)
14g.24259172C>ACA485663947TGM1c.1062G>T (p.Ala354=)
c.-28-784G>T (n.-28-784G>T)
c.135G>T (p.Ala45=)
 ClinVar
14g.24259172C=CA2123854591TGM1c.1062G= (p.Ala354=)
c.-28-784G= (n.-28-784G=)
c.135G= (p.Ala45=)
14g.24259172C>GCA7131202TGM1c.1062G>C (p.Ala354=)
c.-28-784G>C (n.-28-784G>C)
c.135G>C (p.Ala45=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.24259172C>TCA7131201TGM1c.1062G>A (p.Ala354=)
c.-28-784G>A (n.-28-784G>A)
c.135G>A (p.Ala45=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24259173G>ACA389264784TGM1c.1061C>T (p.Ala354Val)
c.-28-785C>T (n.-28-785C>T)
c.134C>T (p.Ala45Val)
 dbSNP gnomAD v3 gnomAD v4
14g.24259173G>CCA389264785TGM1c.1061C>G (p.Ala354Gly)
c.-28-785C>G (n.-28-785C>G)
c.134C>G (p.Ala45Gly)
14g.24259173G=CA2123854592TGM1c.1061C= (p.Ala354=)
c.-28-785C= (n.-28-785C=)
c.134C= (p.Ala45=)
14g.24259173G>TCA389264791TGM1c.1061C>A (p.Ala354Glu)
c.-28-785C>A (n.-28-785C>A)
c.134C>A (p.Ala45Glu)
14g.24259174C>ACA389264820TGM1c.1060G>T (p.Ala354Ser)
c.-28-786G>T (n.-28-786G>T)
c.133G>T (p.Ala45Ser)
14g.24259174C>GCA389264801TGM1c.1060G>C (p.Ala354Pro)
c.-28-786G>C (n.-28-786G>C)
c.133G>C (p.Ala45Pro)
14g.24259174C>TCA389264798TGM1c.1060G>A (p.Ala354Thr)
c.-28-786G>A (n.-28-786G>A)
c.133G>A (p.Ala45Thr)
 gnomAD v4
14g.24259175T>ACA7131203TGM1c.1059A>T (p.Ser353=)
c.-28-787A>T (n.-28-787A>T)
c.132A>T (p.Ser44=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.24259175T>CCA485663948TGM1c.1059A>G (p.Ser353=)
c.-28-787A>G (n.-28-787A>G)
c.132A>G (p.Ser44=)
14g.24259175T>GCA485663949TGM1c.1059A>C (p.Ser353=)
c.-28-787A>C (n.-28-787A>C)
c.132A>C (p.Ser44=)
14g.24259175T=CA2123854593TGM1c.1059A= (p.Ser353=)
c.-28-787A= (n.-28-787A=)
c.132A= (p.Ser44=)
14g.24259176G>ACA389264828TGM1c.1058C>T (p.Ser353Leu)
c.-28-788C>T (n.-28-788C>T)
c.131C>T (p.Ser44Leu)
 dbSNP gnomAD v2 gnomAD v4
14g.24259176G>CCA389264833TGM1c.1058C>G (p.Ser353Ter)
c.-28-788C>G (n.-28-788C>G)
c.131C>G (p.Ser44Ter)
14g.24259176G=CA2123854594TGM1c.1058C= (p.Ser353=)
c.-28-788C= (n.-28-788C=)
c.131C= (p.Ser44=)
14g.24259176G>TCA389264846TGM1c.1058C>A (p.Ser353Ter)
c.-28-788C>A (n.-28-788C>A)
c.131C>A (p.Ser44Ter)
14g.24259177A>CCA389264857TGM1c.1057T>G (p.Ser353Ala)
c.-28-789T>G (n.-28-789T>G)
c.130T>G (p.Ser44Ala)
14g.24259177A>GCA389264863TGM1c.1057T>C (p.Ser353Pro)
c.-28-789T>C (n.-28-789T>C)
c.130T>C (p.Ser44Pro)
14g.24259177A>TCA389264867TGM1c.1057T>A (p.Ser353Thr)
c.-28-789T>A (n.-28-789T>A)
c.130T>A (p.Ser44Thr)
14g.24259178T>ACA485663954TGM1c.1056A>T (p.Pro352=)
c.-28-790A>T (n.-28-790A>T)
c.129A>T (p.Pro43=)
14g.24259178T>CCA257898636TGM1c.1056A>G (p.Pro352=)
c.-28-790A>G (n.-28-790A>G)
c.129A>G (p.Pro43=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24259178T>GCA485663955TGM1c.1056A>C (p.Pro352=)
c.-28-790A>C (n.-28-790A>C)
c.129A>C (p.Pro43=)
14g.24259178T=CA2123854595TGM1c.1056A= (p.Pro352=)
c.-28-790A= (n.-28-790A=)
c.129A= (p.Pro43=)
14g.24259179G>ACA389264875TGM1c.1055C>T (p.Pro352Leu)
c.-28-791C>T (n.-28-791C>T)
c.128C>T (p.Pro43Leu)
 ClinVar dbSNP
14g.24259179G>CCA389264897TGM1c.1055C>G (p.Pro352Arg)
c.-28-791C>G (n.-28-791C>G)
c.128C>G (p.Pro43Arg)
14g.24259179G=CA2123854596TGM1c.1055C= (p.Pro352=)
c.-28-791C= (n.-28-791C=)
c.128C= (p.Pro43=)
14g.24259179G>TCA389264902TGM1c.1055C>A (p.Pro352Gln)
c.-28-791C>A (n.-28-791C>A)
c.128C>A (p.Pro43Gln)
 gnomAD v4
14g.24259180G>ACA389264903TGM1c.1054C>T (p.Pro352Ser)
c.-28-792C>T (n.-28-792C>T)
c.127C>T (p.Pro43Ser)
14g.24259180G>CCA389264904TGM1c.1054C>G (p.Pro352Ala)
c.-28-792C>G (n.-28-792C>G)
c.127C>G (p.Pro43Ala)
 ClinVar dbSNP
14g.24259180G=CA2123854597TGM1c.1054C= (p.Pro352=)
c.-28-792C= (n.-28-792C=)
c.127C= (p.Pro43=)
14g.24259180G>TCA389264907TGM1c.1054C>A (p.Pro352Thr)
c.-28-792C>A (n.-28-792C>A)
c.127C>A (p.Pro43Thr)
14g.24259181G>ACA485663959TGM1c.1053C>T (p.Asn351=)
c.-28-793C>T (n.-28-793C>T)
c.126C>T (p.Asn42=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.24259181G>CCA389264912TGM1c.1053C>G (p.Asn351Lys)
c.-28-793C>G (n.-28-793C>G)
c.126C>G (p.Asn42Lys)
14g.24259181G=CA2123854598TGM1c.1053C= (p.Asn351=)
c.-28-793C= (n.-28-793C=)
c.126C= (p.Asn42=)
14g.24259181G>TCA7131204TGM1c.1053C>A (p.Asn351Lys)
c.-28-793C>A (n.-28-793C>A)
c.126C>A (p.Asn42Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.24259182T>ACA389264914TGM1c.1052A>T (p.Asn351Ile)
c.-28-794A>T (n.-28-794A>T)
c.125A>T (p.Asn42Ile)
14g.24259182T>CCA389264917TGM1c.1052A>G (p.Asn351Ser)
c.-28-794A>G (n.-28-794A>G)
c.125A>G (p.Asn42Ser)
14g.24259182T>GCA389264922TGM1c.1052A>C (p.Asn351Thr)
c.-28-794A>C (n.-28-794A>C)
c.125A>C (p.Asn42Thr)
14g.24259183T>ACA389264928TGM1c.1051A>T (p.Asn351Tyr)
c.-28-795A>T (n.-28-795A>T)
c.124A>T (p.Asn42Tyr)
14g.24259183T>CCA389264934TGM1c.1051A>G (p.Asn351Asp)
c.-28-795A>G (n.-28-795A>G)
c.124A>G (p.Asn42Asp)
14g.24259183T>GCA389264935TGM1c.1051A>C (p.Asn351His)
c.-28-795A>C (n.-28-795A>C)
c.124A>C (p.Asn42His)
14g.24259184G>ACA485663962TGM1c.1050C>T (p.Thr350=)
c.-28-796C>T (n.-28-796C>T)
c.123C>T (p.Thr41=)
 dbSNP gnomAD v2
14g.24259184G>CCA485663963TGM1c.1050C>G (p.Thr350=)
c.-28-796C>G (n.-28-796C>G)
c.123C>G (p.Thr41=)
14g.24259184G=CA2123854599TGM1c.1050C= (p.Thr350=)
c.-28-796C= (n.-28-796C=)
c.123C= (p.Thr41=)
14g.24259184G>TCA485663964TGM1c.1050C>A (p.Thr350=)
c.-28-796C>A (n.-28-796C>A)
c.123C>A (p.Thr41=)
14g.24259185G>ACA389264936TGM1c.1049C>T (p.Thr350Ile)
c.-28-797C>T (n.-28-797C>T)
c.122C>T (p.Thr41Ile)
14g.24259185G>CCA389264938TGM1c.1049C>G (p.Thr350Ser)
c.-28-797C>G (n.-28-797C>G)
c.122C>G (p.Thr41Ser)
 dbSNP gnomAD v3 gnomAD v4
14g.24259185G=CA2123854600TGM1c.1049C= (p.Thr350=)
c.-28-797C= (n.-28-797C=)
c.122C= (p.Thr41=)
14g.24259185G>TCA389264940TGM1c.1049C>A (p.Thr350Asn)
c.-28-797C>A (n.-28-797C>A)
c.122C>A (p.Thr41Asn)
14g.24259186T>ACA389264942TGM1c.1048A>T (p.Thr350Ser)
c.-28-798A>T (n.-28-798A>T)
c.121A>T (p.Thr41Ser)
14g.24259186T>CCA389264947TGM1c.1048A>G (p.Thr350Ala)
c.-28-798A>G (n.-28-798A>G)
c.121A>G (p.Thr41Ala)
14g.24259186T>GCA389264952TGM1c.1048A>C (p.Thr350Pro)
c.-28-798A>C (n.-28-798A>C)
c.121A>C (p.Thr41Pro)
14g.24259187G>ACA485663974TGM1c.1047C>T (p.Gly349=)
c.-28-799C>T (n.-28-799C>T)
c.120C>T (p.Gly40=)
14g.24259187G>CCA485663972TGM1c.1047C>G (p.Gly349=)
c.-28-799C>G (n.-28-799C>G)
c.120C>G (p.Gly40=)
14g.24259187G>TCA485663970TGM1c.1047C>A (p.Gly349=)
c.-28-799C>A (n.-28-799C>A)
c.120C>A (p.Gly40=)
14g.24259188C>ACA389264968TGM1c.1046G>T (p.Gly349Val)
c.-28-800G>T (n.-28-800G>T)
c.119G>T (p.Gly40Val)
14g.24259188C=CA2123854601TGM1c.1046G= (p.Gly349=)
c.-28-800G= (n.-28-800G=)
c.119G= (p.Gly40=)
14g.24259188C>GCA389264963TGM1c.1046G>C (p.Gly349Ala)
c.-28-800G>C (n.-28-800G>C)
c.119G>C (p.Gly40Ala)
14g.24259188C>TCA389264961TGM1c.1046G>A (p.Gly349Asp)
c.-28-800G>A (n.-28-800G>A)
c.119G>A (p.Gly40Asp)
 dbSNP
14g.24259189C>ACA389264969TGM1c.1045G>T (p.Gly349Cys)
c.-28-801G>T (n.-28-801G>T)
c.118G>T (p.Gly40Cys)
14g.24259189C=CA2123854602TGM1c.1045G= (p.Gly349=)
c.-28-801G= (n.-28-801G=)
c.118G= (p.Gly40=)
14g.24259189C>GCA389264972TGM1c.1045G>C (p.Gly349Arg)
c.-28-801G>C (n.-28-801G>C)
c.118G>C (p.Gly40Arg)
 dbSNP gnomAD v3 gnomAD v4
14g.24259189C>TCA7131205TGM1c.1045G>A (p.Gly349Ser)
c.-28-801G>A (n.-28-801G>A)
c.118G>A (p.Gly40Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.24259190T>ACA485663977TGM1c.1044A>T (p.Arg348=)
c.-28-802A>T (n.-28-802A>T)
c.117A>T (p.Arg39=)
14g.24259190T>CCA485663978TGM1c.1044A>G (p.Arg348=)
c.-28-802A>G (n.-28-802A>G)
c.117A>G (p.Arg39=)
14g.24259190T>GCA485663979TGM1c.1044A>C (p.Arg348=)
c.-28-802A>C (n.-28-802A>C)
c.117A>C (p.Arg39=)
14g.24259191C>ACA389264988TGM1c.1043G>T (p.Arg348Leu)
c.-28-803G>T (n.-28-803G>T)
c.116G>T (p.Arg39Leu)
14g.24259191C=CA2123854603TGM1c.1043G= (p.Arg348=)
c.-28-803G= (n.-28-803G=)
c.116G= (p.Arg39=)
14g.24259191C>GCA389264994TGM1c.1043G>C (p.Arg348Pro)
c.-28-803G>C (n.-28-803G>C)
c.116G>C (p.Arg39Pro)
 dbSNP
14g.24259191C>TCA7131206TGM1c.1043G>A (p.Arg348Gln)
c.-28-803G>A (n.-28-803G>A)
c.116G>A (p.Arg39Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24259192G>ACA389265004TGM1c.1042C>T (p.Arg348Ter)
c.-28-804C>T (n.-28-804C>T)
c.115C>T (p.Arg39Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24259192G>CCA389265012TGM1c.1042C>G (p.Arg348Gly)
c.-28-804C>G (n.-28-804C>G)
c.115C>G (p.Arg39Gly)
14g.24259192G=CA2123854604TGM1c.1042C= (p.Arg348=)
c.-28-804C= (n.-28-804C=)
c.115C= (p.Arg39=)
14g.24259192G>TCA485663981TGM1c.1042C>A (p.Arg348=)
c.-28-804C>A (n.-28-804C>A)
c.115C>A (p.Arg39=)
14g.24259192_24259193insAGCA658824898TGM1c.1042_1043insTC (p.Arg348LeufsTer?)
c.-28-804_-28-803insTC (n.-28-804_-28-803insTC)
c.115_116insTC (p.Arg39LeufsTer?)
 ClinVar dbSNP
14g.24259193G>ACA257898662TGM1c.1041C>T (p.Ser347=)
c.-28-805C>T (n.-28-805C>T)
c.114C>T (p.Ser38=)
 dbSNP
14g.24259193G>CCA7131207TGM1c.1041C>G (p.Ser347=)
c.-28-805C>G (n.-28-805C>G)
c.114C>G (p.Ser38=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24259193G=CA2123854605TGM1c.1041C= (p.Ser347=)
c.-28-805C= (n.-28-805C=)
c.114C= (p.Ser38=)
14g.24259193G>TCA485663982TGM1c.1041C>A (p.Ser347=)
c.-28-805C>A (n.-28-805C>A)
c.114C>A (p.Ser38=)
14g.24259194G>ACA389265015TGM1c.1040C>T (p.Ser347Phe)
c.-28-806C>T (n.-28-806C>T)
c.113C>T (p.Ser38Phe)
14g.24259194G>CCA389265018TGM1c.1040C>G (p.Ser347Cys)
c.-28-806C>G (n.-28-806C>G)
c.113C>G (p.Ser38Cys)
14g.24259194G>TCA389265023TGM1c.1040C>A (p.Ser347Tyr)
c.-28-806C>A (n.-28-806C>A)
c.113C>A (p.Ser38Tyr)
14g.24259195A>CCA389265026TGM1c.1039T>G (p.Ser347Ala)
c.-28-807T>G (n.-28-807T>G)
c.112T>G (p.Ser38Ala)
14g.24259195A>GCA389265028TGM1c.1039T>C (p.Ser347Pro)
c.-28-807T>C (n.-28-807T>C)
c.112T>C (p.Ser38Pro)
14g.24259195A>TCA389265030TGM1c.1039T>A (p.Ser347Thr)
c.-28-807T>A (n.-28-807T>A)
c.112T>A (p.Ser38Thr)
14g.24259196G>ACA485663985TGM1c.1038C>T (p.Tyr346=)
c.-28-808C>T (n.-28-808C>T)
c.111C>T (p.Tyr37=)
 gnomAD v4
14g.24259196G>CCA389265034TGM1c.1038C>G (p.Tyr346Ter)
c.-28-808C>G (n.-28-808C>G)
c.111C>G (p.Tyr37Ter)
14g.24259196G>TCA389265039TGM1c.1038C>A (p.Tyr346Ter)
c.-28-808C>A (n.-28-808C>A)
c.111C>A (p.Tyr37Ter)
 ClinVar
14g.24259197T>ACA389265052TGM1c.1037A>T (p.Tyr346Phe)
c.-28-809A>T (n.-28-809A>T)
c.110A>T (p.Tyr37Phe)
14g.24259197T>CCA389265046TGM1c.1037A>G (p.Tyr346Cys)
c.-28-809A>G (n.-28-809A>G)
c.110A>G (p.Tyr37Cys)
 dbSNP gnomAD v3 gnomAD v4
14g.24259197T>GCA389265050TGM1c.1037A>C (p.Tyr346Ser)
c.-28-809A>C (n.-28-809A>C)
c.110A>C (p.Tyr37Ser)
14g.24259197T=CA2123854606TGM1c.1037A= (p.Tyr346=)
c.-28-809A= (n.-28-809A=)
c.110A= (p.Tyr37=)
14g.24259198A>CCA389265058TGM1c.1036T>G (p.Tyr346Asp)
c.-28-810T>G (n.-28-810T>G)
c.109T>G (p.Tyr37Asp)
14g.24259198A>GCA389265067TGM1c.1036T>C (p.Tyr346His)
c.-28-810T>C (n.-28-810T>C)
c.109T>C (p.Tyr37His)
14g.24259198A>TCA389265075TGM1c.1036T>A (p.Tyr346Asn)
c.-28-810T>A (n.-28-810T>A)
c.109T>A (p.Tyr37Asn)
14g.24259199A>CCA389265080TGM1c.1035T>G (p.Asp345Glu)
c.-28-811T>G (n.-28-811T>G)
c.108T>G (p.Asp36Glu)
14g.24259199A>GCA485663988TGM1c.1035T>C (p.Asp345=)
c.-28-811T>C (n.-28-811T>C)
c.108T>C (p.Asp36=)
14g.24259199A>TCA389265081TGM1c.1035T>A (p.Asp345Glu)
c.-28-811T>A (n.-28-811T>A)
c.108T>A (p.Asp36Glu)
 gnomAD v4
14g.24259200T>ACA389265082TGM1c.1034A>T (p.Asp345Val)
c.-28-812A>T (n.-28-812A>T)
c.107A>T (p.Asp36Val)
14g.24259200T>CCA389265083TGM1c.1034A>G (p.Asp345Gly)
c.-28-812A>G (n.-28-812A>G)
c.107A>G (p.Asp36Gly)
14g.24259200T>GCA389265086TGM1c.1034A>C (p.Asp345Ala)
c.-28-812A>C (n.-28-812A>C)
c.107A>C (p.Asp36Ala)
 gnomAD v4
14g.24259201C>ACA389265094TGM1c.1033G>T (p.Asp345Tyr)
c.-28-813G>T (n.-28-813G>T)
c.106G>T (p.Asp36Tyr)
14g.24259201C=CA2123854607TGM1c.1033G= (p.Asp345=)
c.-28-813G= (n.-28-813G=)
c.106G= (p.Asp36=)
14g.24259201C>GCA389265098TGM1c.1033G>C (p.Asp345His)
c.-28-813G>C (n.-28-813G>C)
c.106G>C (p.Asp36His)
14g.24259201C>TCA7131208TGM1c.1033G>A (p.Asp345Asn)
c.-28-813G>A (n.-28-813G>A)
c.106G>A (p.Asp36Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24259202A>CCA485663992TGM1c.1032T>G (p.Gly344=)
c.-28-814T>G (n.-28-814T>G)
c.105T>G (p.Gly35=)
 gnomAD v4
14g.24259202A>GCA485663993TGM1c.1032T>C (p.Gly344=)
c.-28-814T>C (n.-28-814T>C)
c.105T>C (p.Gly35=)
14g.24259202A>TCA485663994TGM1c.1032T>A (p.Gly344=)
c.-28-814T>A (n.-28-814T>A)
c.105T>A (p.Gly35=)
14g.24259203C>ACA389265104TGM1c.1031G>T (p.Gly344Val)
c.-28-815G>T (n.-28-815G>T)
c.104G>T (p.Gly35Val)
14g.24259203C>GCA389265103TGM1c.1031G>C (p.Gly344Ala)
c.-28-815G>C (n.-28-815G>C)
c.104G>C (p.Gly35Ala)
 ClinVar
14g.24259203C>TCA389265102TGM1c.1031G>A (p.Gly344Asp)
c.-28-815G>A (n.-28-815G>A)
c.104G>A (p.Gly35Asp)
 gnomAD v4
14g.24259204C>ACA389265125TGM1c.1030G>T (p.Gly344Cys)
c.-28-816G>T (n.-28-816G>T)
c.103G>T (p.Gly35Cys)
14g.24259204C=CA2123854608TGM1c.1030G= (p.Gly344=)
c.-28-816G= (n.-28-816G=)
c.103G= (p.Gly35=)
14g.24259204C>GCA389265105TGM1c.1030G>C (p.Gly344Arg)
c.-28-816G>C (n.-28-816G>C)
c.103G>C (p.Gly35Arg)
14g.24259204C>TCA389265120TGM1c.1030G>A (p.Gly344Ser)
c.-28-816G>A (n.-28-816G>A)
c.103G>A (p.Gly35Ser)
 dbSNP gnomAD v2 gnomAD v4
14g.24259205A>CCA485663997TGM1c.1029T>G (p.Ser343=)
c.-28-817T>G (n.-28-817T>G)
c.102T>G (p.Ser34=)
14g.24259205A>GCA485663998TGM1c.1029T>C (p.Ser343=)
c.-28-817T>C (n.-28-817T>C)
c.102T>C (p.Ser34=)
14g.24259205A>TCA485663999TGM1c.1029T>A (p.Ser343=)
c.-28-817T>A (n.-28-817T>A)
c.102T>A (p.Ser34=)
14g.24259206G>ACA389265136TGM1c.1028C>T (p.Ser343Phe)
c.-28-818C>T (n.-28-818C>T)
c.101C>T (p.Ser34Phe)
14g.24259206G>CCA389265151TGM1c.1028C>G (p.Ser343Cys)
c.-28-818C>G (n.-28-818C>G)
c.101C>G (p.Ser34Cys)
14g.24259206G>TCA389265154TGM1c.1028C>A (p.Ser343Tyr)
c.-28-818C>A (n.-28-818C>A)
c.101C>A (p.Ser34Tyr)
14g.24259207A>CCA389265173TGM1c.1027T>G (p.Ser343Ala)
c.-28-819T>G (n.-28-819T>G)
c.100T>G (p.Ser34Ala)
14g.24259207A>GCA389265170TGM1c.1027T>C (p.Ser343Pro)
c.-28-819T>C (n.-28-819T>C)
c.100T>C (p.Ser34Pro)
14g.24259207A>TCA389265168TGM1c.1027T>A (p.Ser343Thr)
c.-28-819T>A (n.-28-819T>A)
c.100T>A (p.Ser34Thr)
14g.24259208C>ACA389265178TGM1c.1026G>T (p.Trp342Cys)
c.-28-820G>T (n.-28-820G>T)
c.99G>T (p.Trp33Cys)
14g.24259208C>GCA389265180TGM1c.1026G>C (p.Trp342Cys)
c.-28-820G>C (n.-28-820G>C)
c.99G>C (p.Trp33Cys)
14g.24259208C>TCA389265182TGM1c.1026G>A (p.Trp342Ter)
c.-28-820G>A (n.-28-820G>A)
c.99G>A (p.Trp33Ter)
14g.24259209C>ACA389265184TGM1c.1025G>T (p.Trp342Leu)
c.-28-821G>T (n.-28-821G>T)
c.98G>T (p.Trp33Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.24259209C=CA2123854609TGM1c.1025G= (p.Trp342=)
c.-28-821G= (n.-28-821G=)
c.98G= (p.Trp33=)
14g.24259209C>GCA389265187TGM1c.1025G>C (p.Trp342Ser)
c.-28-821G>C (n.-28-821G>C)
c.98G>C (p.Trp33Ser)
14g.24259209C>TCA389265192TGM1c.1025G>A (p.Trp342Ter)
c.-28-821G>A (n.-28-821G>A)
c.98G>A (p.Trp33Ter)
14g.24259210delCA2624346244TGM1c.1024del (p.Trp342GlyfsTer?)
c.-28-822del (n.-28-822del)
c.97del (p.Trp33GlyfsTer?)
 gnomAD v4
14g.24259210A>CCA389265203TGM1c.1024T>G (p.Trp342Gly)
c.-28-822T>G (n.-28-822T>G)
c.97T>G (p.Trp33Gly)
14g.24259210A>GCA389265214TGM1c.1024T>C (p.Trp342Arg)
c.-28-822T>C (n.-28-822T>C)
c.97T>C (p.Trp33Arg)
14g.24259210A>TCA389265211TGM1c.1024T>A (p.Trp342Arg)
c.-28-822T>A (n.-28-822T>A)
c.97T>A (p.Trp33Arg)
14g.24259211G>ACA485664003TGM1c.1023C>T (p.Asn341=)
c.-28-823C>T (n.-28-823C>T)
c.96C>T (p.Asn32=)
14g.24259211G>CCA389265218TGM1c.1023C>G (p.Asn341Lys)
c.-28-823C>G (n.-28-823C>G)
c.96C>G (p.Asn32Lys)
14g.24259211G>TCA389265230TGM1c.1023C>A (p.Asn341Lys)
c.-28-823C>A (n.-28-823C>A)
c.96C>A (p.Asn32Lys)
14g.24259212T>ACA389265234TGM1c.1022A>T (p.Asn341Ile)
c.-28-824A>T (n.-28-824A>T)
c.95A>T (p.Asn32Ile)
14g.24259212T>CCA389265235TGM1c.1022A>G (p.Asn341Ser)
c.-28-824A>G (n.-28-824A>G)
c.95A>G (p.Asn32Ser)
14g.24259212T>GCA389265239TGM1c.1022A>C (p.Asn341Thr)
c.-28-824A>C (n.-28-824A>C)
c.95A>C (p.Asn32Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24259212T=CA2123854610TGM1c.1022A= (p.Asn341=)
c.-28-824A= (n.-28-824A=)
c.95A= (p.Asn32=)
14g.24259213T>ACA389265243TGM1c.1021A>T (p.Asn341Tyr)
c.-28-825A>T (n.-28-825A>T)
c.94A>T (p.Asn32Tyr)
14g.24259213T>CCA389265247TGM1c.1021A>G (p.Asn341Asp)
c.-28-825A>G (n.-28-825A>G)
c.94A>G (p.Asn32Asp)
14g.24259213T>GCA389265249TGM1c.1021A>C (p.Asn341His)
c.-28-825A>C (n.-28-825A>C)
c.94A>C (p.Asn32His)
14g.24259214C>ACA485664005TGM1c.1020G>T (p.Gly340=)
c.-28-826G>T (n.-28-826G>T)
c.93G>T (p.Gly31=)
14g.24259214C>GCA485664006TGM1c.1020G>C (p.Gly340=)
c.-28-826G>C (n.-28-826G>C)
c.93G>C (p.Gly31=)
14g.24259214C>TCA485664007TGM1c.1020G>A (p.Gly340=)
c.-28-826G>A (n.-28-826G>A)
c.93G>A (p.Gly31=)
14g.24259216delCA2695219178TGM1c.1020del (p.Asn341ThrfsTer?)
c.-28-826del (n.-28-826del)
c.93del (p.Asn32ThrfsTer?)
14g.24259215C>ACA257898704TGM1c.1019G>T (p.Gly340Val)
c.-28-827G>T (n.-28-827G>T)
c.92G>T (p.Gly31Val)
 dbSNP
14g.24259215C=CA2123854611TGM1c.1019G= (p.Gly340=)
c.-28-827G= (n.-28-827G=)
c.92G= (p.Gly31=)
14g.24259215C>GCA389265255TGM1c.1019G>C (p.Gly340Ala)
c.-28-827G>C (n.-28-827G>C)
c.92G>C (p.Gly31Ala)
14g.24259215C>TCA389265256TGM1c.1019G>A (p.Gly340Glu)
c.-28-827G>A (n.-28-827G>A)
c.92G>A (p.Gly31Glu)
 ClinVar dbSNP
14g.24259216C>ACA389265258TGM1c.1018G>T (p.Gly340Trp)
c.-28-828G>T (n.-28-828G>T)
c.91G>T (p.Gly31Trp)
14g.24259216C>GCA389265263TGM1c.1018G>C (p.Gly340Arg)
c.-28-828G>C (n.-28-828G>C)
c.91G>C (p.Gly31Arg)
14g.24259216C>TCA389265257TGM1c.1018G>A (p.Gly340Arg)
c.-28-828G>A (n.-28-828G>A)
c.91G>A (p.Gly31Arg)
14g.24259217A>CCA389265267TGM1c.1017T>G (p.Ile339Met)
c.-28-829T>G (n.-28-829T>G)
c.90T>G (p.Ile30Met)
14g.24259217A>GCA485664012TGM1c.1017T>C (p.Ile339=)
c.-28-829T>C (n.-28-829T>C)
c.90T>C (p.Ile30=)
14g.24259217A>TCA485664014TGM1c.1017T>A (p.Ile339=)
c.-28-829T>A (n.-28-829T>A)
c.90T>A (p.Ile30=)
14g.24259218A>CCA389265273TGM1c.1016T>G (p.Ile339Ser)
c.-28-830T>G (n.-28-830T>G)
c.89T>G (p.Ile30Ser)
14g.24259218A>GCA389265287TGM1c.1016T>C (p.Ile339Thr)
c.-28-830T>C (n.-28-830T>C)
c.89T>C (p.Ile30Thr)
 gnomAD v4
14g.24259218A>TCA389265310TGM1c.1016T>A (p.Ile339Asn)
c.-28-830T>A (n.-28-830T>A)
c.89T>A (p.Ile30Asn)
14g.24259219T>ACA389265322TGM1c.1015A>T (p.Ile339Phe)
c.-28-831A>T (n.-28-831A>T)
c.88A>T (p.Ile30Phe)
14g.24259219T>CCA389265324TGM1c.1015A>G (p.Ile339Val)
c.-28-831A>G (n.-28-831A>G)
c.88A>G (p.Ile30Val)
 gnomAD v4
14g.24259219T>GCA389265326TGM1c.1015A>C (p.Ile339Leu)
c.-28-831A>C (n.-28-831A>C)
c.88A>C (p.Ile30Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24259219T=CA2123854612TGM1c.1015A= (p.Ile339=)
c.-28-831A= (n.-28-831A=)
c.88A= (p.Ile30=)

Number of alleles fetched