Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.24259102_24259108delinsAGCACTG | CA2123854568 | TGM1 | c.1126_1132delinsCAGTGCT (p.Gln376=) c.-28-720_-28-714delinsCAGTGCT (n.-28-720_-28-714delinsCAGTGCT) c.199_205delinsCAGTGCT (p.Gln67=) | |
14 | g.24259105_24259110del | CA612959287 | TGM1 | c.1126_1131del (p.Gln376_Cys377del) c.-28-720_-28-715del (n.-28-720_-28-715del) c.199_204del (p.Gln67_Cys68del) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24259107T>A | CA389263822 | TGM1 | c.1127A>T (p.Gln376Leu) c.-28-719A>T (n.-28-719A>T) c.200A>T (p.Gln67Leu) | |
14 | g.24259107T>C | CA389263823 | TGM1 | c.1127A>G (p.Gln376Arg) c.-28-719A>G (n.-28-719A>G) c.200A>G (p.Gln67Arg) | |
14 | g.24259107T>G | CA389263828 | TGM1 | c.1127A>C (p.Gln376Pro) c.-28-719A>C (n.-28-719A>C) c.200A>C (p.Gln67Pro) | |
14 | g.24259108G>A | CA389263844 | TGM1 | c.1126C>T (p.Gln376Ter) c.-28-720C>T (n.-28-720C>T) c.199C>T (p.Gln67Ter) | ClinVar |
14 | g.24259108G>C | CA389263847 | TGM1 | c.1126C>G (p.Gln376Glu) c.-28-720C>G (n.-28-720C>G) c.199C>G (p.Gln67Glu) | |
14 | g.24259108G>T | CA389263861 | TGM1 | c.1126C>A (p.Gln376Lys) c.-28-720C>A (n.-28-720C>A) c.199C>A (p.Gln67Lys) | |
14 | g.24259109G>A | CA485663839 | TGM1 | c.1125C>T (p.Gly375=) c.-28-721C>T (n.-28-721C>T) c.198C>T (p.Gly66=) | |
14 | g.24259109G>C | CA485663840 | TGM1 | c.1125C>G (p.Gly375=) c.-28-721C>G (n.-28-721C>G) c.198C>G (p.Gly66=) | |
14 | g.24259109G>T | CA485663841 | TGM1 | c.1125C>A (p.Gly375=) c.-28-721C>A (n.-28-721C>A) c.198C>A (p.Gly66=) | COSMIC |
14 | g.24259110C>A | CA389263867 | TGM1 | c.1124G>T (p.Gly375Val) c.-28-722G>T (n.-28-722G>T) c.197G>T (p.Gly66Val) | |
14 | g.24259110C>G | CA389263890 | TGM1 | c.1124G>C (p.Gly375Ala) c.-28-722G>C (n.-28-722G>C) c.197G>C (p.Gly66Ala) | |
14 | g.24259110C>T | CA389263903 | TGM1 | c.1124G>A (p.Gly375Asp) c.-28-722G>A (n.-28-722G>A) c.197G>A (p.Gly66Asp) | |
14 | g.24259111C>A | CA389263907 | TGM1 | c.1123G>T (p.Gly375Cys) c.-28-723G>T (n.-28-723G>T) c.196G>T (p.Gly66Cys) | |
14 | g.24259111C>G | CA389263908 | TGM1 | c.1123G>C (p.Gly375Arg) c.-28-723G>C (n.-28-723G>C) c.196G>C (p.Gly66Arg) | |
14 | g.24259111C>T | CA389263909 | TGM1 | c.1123G>A (p.Gly375Ser) c.-28-723G>A (n.-28-723G>A) c.196G>A (p.Gly66Ser) | |
14 | g.24259112A= | CA2123854570 | TGM1 | c.1122T= (p.Tyr374=) c.-28-724T= (n.-28-724T=) c.195T= (p.Tyr65=) | |
14 | g.24259112A>C | CA389263913 | TGM1 | c.1122T>G (p.Tyr374Ter) c.-28-724T>G (n.-28-724T>G) c.195T>G (p.Tyr65Ter) | |
14 | g.24259112A>G | CA485663846 | TGM1 | c.1122T>C (p.Tyr374=) c.-28-724T>C (n.-28-724T>C) c.195T>C (p.Tyr65=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.24259112A>T | CA389263917 | TGM1 | c.1122T>A (p.Tyr374Ter) c.-28-724T>A (n.-28-724T>A) c.195T>A (p.Tyr65Ter) | |
14 | g.24259113T>A | CA389263922 | TGM1 | c.1121A>T (p.Tyr374Phe) c.-28-725A>T (n.-28-725A>T) c.194A>T (p.Tyr65Phe) | gnomAD v4 |
14 | g.24259113T>C | CA389263923 | TGM1 | c.1121A>G (p.Tyr374Cys) c.-28-725A>G (n.-28-725A>G) c.194A>G (p.Tyr65Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.24259113T>G | CA389263924 | TGM1 | c.1121A>C (p.Tyr374Ser) c.-28-725A>C (n.-28-725A>C) c.194A>C (p.Tyr65Ser) | |
14 | g.24259113T= | CA2123854571 | TGM1 | c.1121A= (p.Tyr374=) c.-28-725A= (n.-28-725A=) c.194A= (p.Tyr65=) | |
14 | g.24259114A>C | CA389263927 | TGM1 | c.1120T>G (p.Tyr374Asp) c.-28-726T>G (n.-28-726T>G) c.193T>G (p.Tyr65Asp) | |
14 | g.24259114A>G | CA389263932 | TGM1 | c.1120T>C (p.Tyr374His) c.-28-726T>C (n.-28-726T>C) c.193T>C (p.Tyr65His) | |
14 | g.24259114A>T | CA389263943 | TGM1 | c.1120T>A (p.Tyr374Asn) c.-28-726T>A (n.-28-726T>A) c.193T>A (p.Tyr65Asn) | |
14 | g.24259115G>A | CA485663849 | TGM1 | c.1119C>T (p.Pro373=) c.-28-727C>T (n.-28-727C>T) c.192C>T (p.Pro64=) | ClinVar dbSNP |
14 | g.24259115G>C | CA485663852 | TGM1 | c.1119C>G (p.Pro373=) c.-28-727C>G (n.-28-727C>G) c.192C>G (p.Pro64=) | |
14 | g.24259115G>T | CA485663850 | TGM1 | c.1119C>A (p.Pro373=) c.-28-727C>A (n.-28-727C>A) c.192C>A (p.Pro64=) | |
14 | g.24259116G>A | CA389263947 | TGM1 | c.1118C>T (p.Pro373Leu) c.-28-728C>T (n.-28-728C>T) c.191C>T (p.Pro64Leu) | gnomAD v4 |
14 | g.24259116G>C | CA389263955 | TGM1 | c.1118C>G (p.Pro373Arg) c.-28-728C>G (n.-28-728C>G) c.191C>G (p.Pro64Arg) | |
14 | g.24259116G>T | CA389263958 | TGM1 | c.1118C>A (p.Pro373His) c.-28-728C>A (n.-28-728C>A) c.191C>A (p.Pro64His) | |
14 | g.24259117G>A | CA389263965 | TGM1 | c.1117C>T (p.Pro373Ser) c.-28-729C>T (n.-28-729C>T) c.190C>T (p.Pro64Ser) | COSMIC |
14 | g.24259117G>C | CA389263971 | TGM1 | c.1117C>G (p.Pro373Ala) c.-28-729C>G (n.-28-729C>G) c.190C>G (p.Pro64Ala) | |
14 | g.24259117G>T | CA389263975 | TGM1 | c.1117C>A (p.Pro373Thr) c.-28-729C>A (n.-28-729C>A) c.190C>A (p.Pro64Thr) | |
14 | g.24259118G>A | CA485663853 | TGM1 | c.1116C>T (p.Val372=) c.-28-730C>T (n.-28-730C>T) c.189C>T (p.Val63=) | |
14 | g.24259118G>C | CA485663854 | TGM1 | c.1116C>G (p.Val372=) c.-28-730C>G (n.-28-730C>G) c.189C>G (p.Val63=) | gnomAD v4 |
14 | g.24259118G= | CA2123854572 | TGM1 | c.1116C= (p.Val372=) c.-28-730C= (n.-28-730C=) c.189C= (p.Val63=) | |
14 | g.24259118G>T | CA257898500 | TGM1 | c.1116C>A (p.Val372=) c.-28-730C>A (n.-28-730C>A) c.189C>A (p.Val63=) | dbSNP |
14 | g.24259119A= | CA2123854573 | TGM1 | c.1115T= (p.Val372=) c.-28-731T= (n.-28-731T=) c.188T= (p.Val63=) | |
14 | g.24259119A>C | CA389263994 | TGM1 | c.1115T>G (p.Val372Gly) c.-28-731T>G (n.-28-731T>G) c.188T>G (p.Val63Gly) | |
14 | g.24259119A>G | CA389263992 | TGM1 | c.1115T>C (p.Val372Ala) c.-28-731T>C (n.-28-731T>C) c.188T>C (p.Val63Ala) | dbSNP |
14 | g.24259119A>T | CA389263993 | TGM1 | c.1115T>A (p.Val372Asp) c.-28-731T>A (n.-28-731T>A) c.188T>A (p.Val63Asp) | |
14 | g.24259120C>A | CA389263995 | TGM1 | c.1114G>T (p.Val372Phe) c.-28-732G>T (n.-28-732G>T) c.187G>T (p.Val63Phe) | |
14 | g.24259120C= | CA2123854574 | TGM1 | c.1114G= (p.Val372=) c.-28-732G= (n.-28-732G=) c.187G= (p.Val63=) | |
14 | g.24259120C>G | CA389264002 | TGM1 | c.1114G>C (p.Val372Leu) c.-28-732G>C (n.-28-732G>C) c.187G>C (p.Val63Leu) | |
14 | g.24259120C>T | CA7131188 | TGM1 | c.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 |
14 | g.24259121G>A | CA7131189 | TGM1 | c.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 |
14 | g.24259121G>C | CA485663858 | TGM1 | c.1113C>G (p.Ser371=) c.-28-733C>G (n.-28-733C>G) c.186C>G (p.Ser62=) | |
14 | g.24259121G= | CA2123854575 | TGM1 | c.1113C= (p.Ser371=) c.-28-733C= (n.-28-733C=) c.186C= (p.Ser62=) | |
14 | g.24259121G>T | CA257898510 | TGM1 | c.1113C>A (p.Ser371=) c.-28-733C>A (n.-28-733C>A) c.186C>A (p.Ser62=) | ClinVar dbSNP gnomAD v4 |
14 | g.24259122G>A | CA7131190 | TGM1 | c.1112C>T (p.Ser371Phe) c.-28-734C>T (n.-28-734C>T) c.185C>T (p.Ser62Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.24259122G>C | CA389264019 | TGM1 | c.1112C>G (p.Ser371Cys) c.-28-734C>G (n.-28-734C>G) c.185C>G (p.Ser62Cys) | |
14 | g.24259122G= | CA2123854576 | TGM1 | c.1112C= (p.Ser371=) c.-28-734C= (n.-28-734C=) c.185C= (p.Ser62=) | |
14 | g.24259122G>T | CA389264029 | TGM1 | c.1112C>A (p.Ser371Tyr) c.-28-734C>A (n.-28-734C>A) c.185C>A (p.Ser62Tyr) | |
14 | g.24259123A>C | CA389264038 | TGM1 | c.1111T>G (p.Ser371Ala) c.-28-735T>G (n.-28-735T>G) c.184T>G (p.Ser62Ala) | |
14 | g.24259123A>G | CA389264040 | TGM1 | c.1111T>C (p.Ser371Pro) c.-28-735T>C (n.-28-735T>C) c.184T>C (p.Ser62Pro) | |
14 | g.24259123A>T | CA389264045 | TGM1 | c.1111T>A (p.Ser371Thr) c.-28-735T>A (n.-28-735T>A) c.184T>A (p.Ser62Thr) | |
14 | g.24259124A>C | CA389264059 | TGM1 | c.1110T>G (p.Tyr370Ter) c.-28-736T>G (n.-28-736T>G) c.183T>G (p.Tyr61Ter) | |
14 | g.24259124A>G | CA485663862 | TGM1 | c.1110T>C (p.Tyr370=) c.-28-736T>C (n.-28-736T>C) c.183T>C (p.Tyr61=) | |
14 | g.24259124A>T | CA389264075 | TGM1 | c.1110T>A (p.Tyr370Ter) c.-28-736T>A (n.-28-736T>A) c.183T>A (p.Tyr61Ter) | |
14 | g.24259125T>A | CA389264089 | TGM1 | c.1109A>T (p.Tyr370Phe) c.-28-737A>T (n.-28-737A>T) c.182A>T (p.Tyr61Phe) | gnomAD v4 |
14 | g.24259125T>C | CA389264111 | TGM1 | c.1109A>G (p.Tyr370Cys) c.-28-737A>G (n.-28-737A>G) c.182A>G (p.Tyr61Cys) | |
14 | g.24259125T>G | CA389264106 | TGM1 | c.1109A>C (p.Tyr370Ser) c.-28-737A>C (n.-28-737A>C) c.182A>C (p.Tyr61Ser) | |
14 | g.24259126A= | CA2123854577 | TGM1 | c.1108T= (p.Tyr370=) c.-28-738T= (n.-28-738T=) c.181T= (p.Tyr61=) | |
14 | g.24259126A>C | CA389264116 | TGM1 | c.1108T>G (p.Tyr370Asp) c.-28-738T>G (n.-28-738T>G) c.181T>G (p.Tyr61Asp) | |
14 | g.24259126A>G | CA7131191 | TGM1 | c.1108T>C (p.Tyr370His) c.-28-738T>C (n.-28-738T>C) c.181T>C (p.Tyr61His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.24259126A>T | CA389264117 | TGM1 | c.1108T>A (p.Tyr370Asn) c.-28-738T>A (n.-28-738T>A) c.181T>A (p.Tyr61Asn) | |
14 | g.24259127T>A | CA485663865 | TGM1 | c.1107A>T (p.Gly369=) c.-28-739A>T (n.-28-739A>T) c.180A>T (p.Gly60=) | |
14 | g.24259127T>C | CA485663866 | TGM1 | c.1107A>G (p.Gly369=) c.-28-739A>G (n.-28-739A>G) c.180A>G (p.Gly60=) | |
14 | g.24259127T>G | CA485663867 | TGM1 | c.1107A>C (p.Gly369=) c.-28-739A>C (n.-28-739A>C) c.180A>C (p.Gly60=) | |
14 | g.24259127dup | CA2695219170 | TGM1 | c.1107dup (p.Tyr370IlefsTer?) c.-28-739dup (n.-28-739dup) c.180dup (p.Tyr61IlefsTer?) | |
14 | g.24259128C>A | CA389264126 | TGM1 | c.1106G>T (p.Gly369Val) c.-28-740G>T (n.-28-740G>T) c.179G>T (p.Gly60Val) | |
14 | g.24259128C>G | CA389264127 | TGM1 | c.1106G>C (p.Gly369Ala) c.-28-740G>C (n.-28-740G>C) c.179G>C (p.Gly60Ala) | |
14 | g.24259128C>T | CA389264128 | TGM1 | c.1106G>A (p.Gly369Glu) c.-28-740G>A (n.-28-740G>A) c.179G>A (p.Gly60Glu) | |
14 | g.24259130del | CA2695219172 | TGM1 | c.1106del (p.Gly369AspfsTer15) c.-28-740del (n.-28-740del) c.179del (p.Gly60AspfsTer15) | |
14 | g.24259129C>A | CA389264131 | TGM1 | c.1105G>T (p.Gly369Ter) c.-28-741G>T (n.-28-741G>T) c.178G>T (p.Gly60Ter) | |
14 | g.24259129C>G | CA389264135 | TGM1 | c.1105G>C (p.Gly369Arg) c.-28-741G>C (n.-28-741G>C) c.178G>C (p.Gly60Arg) | |
14 | g.24259129C>T | CA389264143 | TGM1 | c.1105G>A (p.Gly369Arg) c.-28-741G>A (n.-28-741G>A) c.178G>A (p.Gly60Arg) | gnomAD v4 |
14 | g.24259130C>A | CA485663869 | TGM1 | c.1104G>T (p.Thr368=) c.-28-742G>T (n.-28-742G>T) c.177G>T (p.Thr59=) | |
14 | g.24259130C= | CA2123854578 | TGM1 | c.1104G= (p.Thr368=) c.-28-742G= (n.-28-742G=) c.177G= (p.Thr59=) | |
14 | g.24259130C>G | CA485663870 | TGM1 | c.1104G>C (p.Thr368=) c.-28-742G>C (n.-28-742G>C) c.177G>C (p.Thr59=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.24259130C>T | CA257898516 | TGM1 | c.1104G>A (p.Thr368=) c.-28-742G>A (n.-28-742G>A) c.177G>A (p.Thr59=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
14 | g.24259131G>A | CA7131192 | TGM1 | c.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 |
14 | g.24259131G>C | CA389264148 | TGM1 | c.1103C>G (p.Thr368Arg) c.-28-743C>G (n.-28-743C>G) c.176C>G (p.Thr59Arg) | ClinVar dbSNP gnomAD v4 |
14 | g.24259131G= | CA2123854579 | TGM1 | c.1103C= (p.Thr368=) c.-28-743C= (n.-28-743C=) c.176C= (p.Thr59=) | |
14 | g.24259131G>T | CA389264149 | TGM1 | c.1103C>A (p.Thr368Lys) c.-28-743C>A (n.-28-743C>A) c.176C>A (p.Thr59Lys) | |
14 | g.24259132T>A | CA389264163 | TGM1 | c.1102A>T (p.Thr368Ser) c.-28-744A>T (n.-28-744A>T) c.175A>T (p.Thr59Ser) | |
14 | g.24259132T>C | CA389264167 | TGM1 | c.1102A>G (p.Thr368Ala) c.-28-744A>G (n.-28-744A>G) c.175A>G (p.Thr59Ala) | ClinVar dbSNP COSMIC |
14 | g.24259132T>G | CA389264150 | TGM1 | c.1102A>C (p.Thr368Pro) c.-28-744A>C (n.-28-744A>C) c.175A>C (p.Thr59Pro) | |
14 | g.24259132T= | CA2123854580 | TGM1 | c.1102A= (p.Thr368=) c.-28-744A= (n.-28-744A=) c.175A= (p.Thr59=) | |
14 | g.24259133G>A | CA485663871 | TGM1 | c.1101C>T (p.Arg367=) c.-28-745C>T (n.-28-745C>T) c.174C>T (p.Arg58=) | |
14 | g.24259133G>C | CA485663872 | TGM1 | c.1101C>G (p.Arg367=) c.-28-745C>G (n.-28-745C>G) c.174C>G (p.Arg58=) | |
14 | g.24259133G>T | CA485663874 | TGM1 | c.1101C>A (p.Arg367=) c.-28-745C>A (n.-28-745C>A) c.174C>A (p.Arg58=) | |
14 | g.24259134C>A | CA389264170 | TGM1 | c.1100G>T (p.Arg367Leu) c.-28-746G>T (n.-28-746G>T) c.173G>T (p.Arg58Leu) | dbSNP |
14 | g.24259134C= | CA2123854581 | TGM1 | c.1100G= (p.Arg367=) c.-28-746G= (n.-28-746G=) c.173G= (p.Arg58=) | |
14 | g.24259134C>G | CA389264174 | TGM1 | c.1100G>C (p.Arg367Pro) c.-28-746G>C (n.-28-746G>C) c.173G>C (p.Arg58Pro) | |
14 | g.24259134C>T | CA7131193 | TGM1 | c.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 |
14 | g.24259135G>A | CA7131194 | TGM1 | c.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 |
14 | g.24259135G>C | CA389264228 | TGM1 | c.1099C>G (p.Arg367Gly) c.-28-747C>G (n.-28-747C>G) c.172C>G (p.Arg58Gly) | |
14 | g.24259135G= | CA2123854582 | TGM1 | c.1099C= (p.Arg367=) c.-28-747C= (n.-28-747C=) c.172C= (p.Arg58=) | |
14 | g.24259135G>T | CA389264229 | TGM1 | c.1099C>A (p.Arg367Ser) c.-28-747C>A (n.-28-747C>A) c.172C>A (p.Arg58Ser) | |
14 | g.24259136T>A | CA485663876 | TGM1 | c.1098A>T (p.Leu366=) c.-28-748A>T (n.-28-748A>T) c.171A>T (p.Leu57=) | |
14 | g.24259136T>C | CA485663877 | TGM1 | c.1098A>G (p.Leu366=) c.-28-748A>G (n.-28-748A>G) c.171A>G (p.Leu57=) | |
14 | g.24259136T>G | CA485663879 | TGM1 | c.1098A>C (p.Leu366=) c.-28-748A>C (n.-28-748A>C) c.171A>C (p.Leu57=) | |
14 | g.24259137A>C | CA389264238 | TGM1 | c.1097T>G (p.Leu366Arg) c.-28-749T>G (n.-28-749T>G) c.170T>G (p.Leu57Arg) | |
14 | g.24259137A>G | CA389264240 | TGM1 | c.1097T>C (p.Leu366Pro) c.-28-749T>C (n.-28-749T>C) c.170T>C (p.Leu57Pro) | gnomAD v4 |
14 | g.24259137A>T | CA389264245 | TGM1 | c.1097T>A (p.Leu366Gln) c.-28-749T>A (n.-28-749T>A) c.170T>A (p.Leu57Gln) | |
14 | g.24259138G>A | CA485663880 | TGM1 | c.1096C>T (p.Leu366=) c.-28-750C>T (n.-28-750C>T) c.169C>T (p.Leu57=) | gnomAD v4 |
14 | g.24259138G>C | CA389264250 | TGM1 | c.1096C>G (p.Leu366Val) c.-28-750C>G (n.-28-750C>G) c.169C>G (p.Leu57Val) | gnomAD v4 |
14 | g.24259138G>T | CA389264251 | TGM1 | c.1096C>A (p.Leu366Ile) c.-28-750C>A (n.-28-750C>A) c.169C>A (p.Leu57Ile) | COSMIC |
14 | g.24259139G>A | CA485663881 | TGM1 | c.1095C>T (p.Tyr365=) c.-28-751C>T (n.-28-751C>T) c.168C>T (p.Tyr56=) | |
14 | g.24259139G>C | CA389264252 | TGM1 | c.1095C>G (p.Tyr365Ter) c.-28-751C>G (n.-28-751C>G) c.168C>G (p.Tyr56Ter) | |
14 | g.24259139G>T | CA389264253 | TGM1 | c.1095C>A (p.Tyr365Ter) c.-28-751C>A (n.-28-751C>A) c.168C>A (p.Tyr56Ter) | |
14 | g.24259140T>A | CA389264284 | TGM1 | c.1094A>T (p.Tyr365Phe) c.-28-752A>T (n.-28-752A>T) c.167A>T (p.Tyr56Phe) | |
14 | g.24259140T>C | CA7131195 | TGM1 | c.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 |
14 | g.24259140T>G | CA389264257 | TGM1 | c.1094A>C (p.Tyr365Ser) c.-28-752A>C (n.-28-752A>C) c.167A>C (p.Tyr56Ser) | |
14 | g.24259140T= | CA2123854583 | TGM1 | c.1094A= (p.Tyr365=) c.-28-752A= (n.-28-752A=) c.167A= (p.Tyr56=) | |
14 | g.24259141A>C | CA389264302 | TGM1 | c.1093T>G (p.Tyr365Asp) c.-28-753T>G (n.-28-753T>G) c.166T>G (p.Tyr56Asp) | |
14 | g.24259141A>G | CA389264304 | TGM1 | c.1093T>C (p.Tyr365His) c.-28-753T>C (n.-28-753T>C) c.166T>C (p.Tyr56His) | |
14 | g.24259141A>T | CA389264310 | TGM1 | c.1093T>A (p.Tyr365Asn) c.-28-753T>A (n.-28-753T>A) c.166T>A (p.Tyr56Asn) | |
14 | g.24259144_24259148del | CA2573053882 | TGM1 | c.1089_1093del (p.Ser364ProfsTer?) c.-28-757_-28-753del (n.-28-757_-28-753del) c.162_166del (p.Ser55ProfsTer?) | dbSNP |
14 | g.24259142G>A | CA7131196 | TGM1 | c.1092C>T (p.Ser364=) c.-28-754C>T (n.-28-754C>T) c.165C>T (p.Ser55=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.24259142G>C | CA7131197 | TGM1 | c.1092C>G (p.Ser364Arg) c.-28-754C>G (n.-28-754C>G) c.165C>G (p.Ser55Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.24259142G= | CA2123854584 | TGM1 | c.1092C= (p.Ser364=) c.-28-754C= (n.-28-754C=) c.165C= (p.Ser55=) | |
14 | g.24259142G>T | CA389264320 | TGM1 | c.1092C>A (p.Ser364Arg) c.-28-754C>A (n.-28-754C>A) c.165C>A (p.Ser55Arg) | |
14 | g.24259143C>A | CA389264324 | TGM1 | c.1091G>T (p.Ser364Ile) c.-28-755G>T (n.-28-755G>T) c.164G>T (p.Ser55Ile) | |
14 | g.24259143C>G | CA389264325 | TGM1 | c.1091G>C (p.Ser364Thr) c.-28-755G>C (n.-28-755G>C) c.164G>C (p.Ser55Thr) | |
14 | g.24259143C>T | CA389264326 | TGM1 | c.1091G>A (p.Ser364Asn) c.-28-755G>A (n.-28-755G>A) c.164G>A (p.Ser55Asn) | |
14 | g.24259143_24259144del | CA2580087979 | TGM1 | c.1090_1091del (p.Ser364LeufsTer?) c.-28-756_-28-755del (n.-28-756_-28-755del) c.163_164del (p.Ser55LeufsTer?) | ClinVar |
14 | g.24259143_24259148del | CA2695219173 | TGM1 | c.1086_1091del (p.Leu363_Ser364del) c.-28-760_-28-755del (n.-28-760_-28-755del) c.159_164del (p.Leu54_Ser55del) | |
14 | g.24259144T>A | CA389264327 | TGM1 | c.1090A>T (p.Ser364Cys) c.-28-756A>T (n.-28-756A>T) c.163A>T (p.Ser55Cys) | |
14 | g.24259144T>C | CA389264331 | TGM1 | c.1090A>G (p.Ser364Gly) c.-28-756A>G (n.-28-756A>G) c.163A>G (p.Ser55Gly) | |
14 | g.24259144T>G | CA389264335 | TGM1 | c.1090A>C (p.Ser364Arg) c.-28-756A>C (n.-28-756A>C) c.163A>C (p.Ser55Arg) | |
14 | g.24259145A>C | CA485663889 | TGM1 | c.1089T>G (p.Leu363=) c.-28-757T>G (n.-28-757T>G) c.162T>G (p.Leu54=) | |
14 | g.24259145A>G | CA485663890 | TGM1 | c.1089T>C (p.Leu363=) c.-28-757T>C (n.-28-757T>C) c.162T>C (p.Leu54=) | |
14 | g.24259145A>T | CA485663887 | TGM1 | c.1089T>A (p.Leu363=) c.-28-757T>A (n.-28-757T>A) c.162T>A (p.Leu54=) | |
14 | g.24259146A>C | CA389264340 | TGM1 | c.1088T>G (p.Leu363Arg) c.-28-758T>G (n.-28-758T>G) c.161T>G (p.Leu54Arg) | |
14 | g.24259146A>G | CA389264342 | TGM1 | c.1088T>C (p.Leu363Pro) c.-28-758T>C (n.-28-758T>C) c.161T>C (p.Leu54Pro) | ClinVar |
14 | g.24259146A>T | CA389264344 | TGM1 | c.1088T>A (p.Leu363His) c.-28-758T>A (n.-28-758T>A) c.161T>A (p.Leu54His) | |
14 | g.24259147G>A | CA389264351 | TGM1 | c.1087C>T (p.Leu363Phe) c.-28-759C>T (n.-28-759C>T) c.160C>T (p.Leu54Phe) | |
14 | g.24259147G>C | CA389264362 | TGM1 | c.1087C>G (p.Leu363Val) c.-28-759C>G (n.-28-759C>G) c.160C>G (p.Leu54Val) | |
14 | g.24259147G>T | CA389264348 | TGM1 | c.1087C>A (p.Leu363Ile) c.-28-759C>A (n.-28-759C>A) c.160C>A (p.Leu54Ile) | |
14 | g.24259148C>A | CA485663892 | TGM1 | c.1086G>T (p.Leu362=) c.-28-760G>T (n.-28-760G>T) c.159G>T (p.Leu53=) | |
14 | g.24259148C>G | CA485663893 | TGM1 | c.1086G>C (p.Leu362=) c.-28-760G>C (n.-28-760G>C) c.159G>C (p.Leu53=) | |
14 | g.24259148C>T | CA485663895 | TGM1 | c.1086G>A (p.Leu362=) c.-28-760G>A (n.-28-760G>A) c.159G>A (p.Leu53=) | ClinVar dbSNP gnomAD v4 |
14 | g.24259149A>C | CA389264382 | TGM1 | c.1085T>G (p.Leu362Arg) c.-28-761T>G (n.-28-761T>G) c.158T>G (p.Leu53Arg) | |
14 | g.24259149A>G | CA389264383 | TGM1 | c.1085T>C (p.Leu362Pro) c.-28-761T>C (n.-28-761T>C) c.158T>C (p.Leu53Pro) | |
14 | g.24259149A>T | CA389264384 | TGM1 | c.1085T>A (p.Leu362Gln) c.-28-761T>A (n.-28-761T>A) c.158T>A (p.Leu53Gln) | |
14 | g.24259150G>A | CA485663896 | TGM1 | c.1084C>T (p.Leu362=) c.-28-762C>T (n.-28-762C>T) c.157C>T (p.Leu53=) | |
14 | g.24259150G>C | CA389264388 | TGM1 | c.1084C>G (p.Leu362Val) c.-28-762C>G (n.-28-762C>G) c.157C>G (p.Leu53Val) | |
14 | g.24259150G>T | CA389264392 | TGM1 | c.1084C>A (p.Leu362Met) c.-28-762C>A (n.-28-762C>A) c.157C>A (p.Leu53Met) | |
14 | g.24259151del | CA2695219174 | TGM1 | c.1084del (p.Leu362CysfsTer22) c.-28-762del (n.-28-762del) c.157del (p.Leu53CysfsTer22) | |
14 | g.24259151G>A | CA485663901 | TGM1 | c.1083C>T (p.Ile361=) c.-28-763C>T (n.-28-763C>T) c.156C>T (p.Ile52=) | ClinVar dbSNP |
14 | g.24259151G>C | CA389264398 | TGM1 | c.1083C>G (p.Ile361Met) c.-28-763C>G (n.-28-763C>G) c.156C>G (p.Ile52Met) | |
14 | g.24259151G>T | CA485663898 | TGM1 | c.1083C>A (p.Ile361=) c.-28-763C>A (n.-28-763C>A) c.156C>A (p.Ile52=) | |
14 | g.24259152A= | CA2123854585 | TGM1 | c.1082T= (p.Ile361=) c.-28-764T= (n.-28-764T=) c.155T= (p.Ile52=) | |
14 | g.24259152A>C | CA389264404 | TGM1 | c.1082T>G (p.Ile361Ser) c.-28-764T>G (n.-28-764T>G) c.155T>G (p.Ile52Ser) | |
14 | g.24259152A>G | CA16042852 | TGM1 | c.1082T>C (p.Ile361Thr) c.-28-764T>C (n.-28-764T>C) c.155T>C (p.Ile52Thr) | ClinVar dbSNP gnomAD v4 |
14 | g.24259152A>T | CA389264402 | TGM1 | c.1082T>A (p.Ile361Asn) c.-28-764T>A (n.-28-764T>A) c.155T>A (p.Ile52Asn) | |
14 | g.24259153T>A | CA389264409 | TGM1 | c.1081A>T (p.Ile361Phe) c.-28-765A>T (n.-28-765A>T) c.154A>T (p.Ile52Phe) | gnomAD v4 |
14 | g.24259153T>C | CA7131198 | TGM1 | c.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 |
14 | g.24259153T>G | CA389264432 | TGM1 | c.1081A>C (p.Ile361Leu) c.-28-765A>C (n.-28-765A>C) c.154A>C (p.Ile52Leu) | |
14 | g.24259153T= | CA2123854586 | TGM1 | c.1081A= (p.Ile361=) c.-28-765A= (n.-28-765A=) c.154A= (p.Ile52=) | |
14 | g.24259154C>A | CA389264444 | TGM1 | c.1080G>T (p.Glu360Asp) c.-28-766G>T (n.-28-766G>T) c.153G>T (p.Glu51Asp) | |
14 | g.24259154C>G | CA389264456 | TGM1 | c.1080G>C (p.Glu360Asp) c.-28-766G>C (n.-28-766G>C) c.153G>C (p.Glu51Asp) | |
14 | g.24259154C>T | CA485663904 | TGM1 | c.1080G>A (p.Glu360=) c.-28-766G>A (n.-28-766G>A) c.153G>A (p.Glu51=) | |
14 | g.24259155T>A | CA389264464 | TGM1 | c.1079A>T (p.Glu360Val) c.-28-767A>T (n.-28-767A>T) c.152A>T (p.Glu51Val) | |
14 | g.24259155T>C | CA389264492 | TGM1 | c.1079A>G (p.Glu360Gly) c.-28-767A>G (n.-28-767A>G) c.152A>G (p.Glu51Gly) | |
14 | g.24259155T>G | CA389264489 | TGM1 | c.1079A>C (p.Glu360Ala) c.-28-767A>C (n.-28-767A>C) c.152A>C (p.Glu51Ala) | |
14 | g.24259156C>A | CA389264515 | TGM1 | c.1078G>T (p.Glu360Ter) c.-28-768G>T (n.-28-768G>T) c.151G>T (p.Glu51Ter) | |
14 | g.24259156C>G | CA389264522 | TGM1 | c.1078G>C (p.Glu360Gln) c.-28-768G>C (n.-28-768G>C) c.151G>C (p.Glu51Gln) | |
14 | g.24259156C>T | CA389264528 | TGM1 | c.1078G>A (p.Glu360Lys) c.-28-768G>A (n.-28-768G>A) c.151G>A (p.Glu51Lys) | |
14 | g.24259164_24259176del | CA2695219175 | TGM1 | c.1066_1078del (p.Val356ArgfsTer24) c.-28-780_-28-768del (n.-28-780_-28-768del) c.139_151del (p.Val47ArgfsTer24) | |
14 | g.24259157C>A | CA485663908 | TGM1 | c.1077G>T (p.Val359=) c.-28-769G>T (n.-28-769G>T) c.150G>T (p.Val50=) | |
14 | g.24259157C>G | CA485663911 | TGM1 | c.1077G>C (p.Val359=) c.-28-769G>C (n.-28-769G>C) c.150G>C (p.Val50=) | |
14 | g.24259157C>T | CA485663912 | TGM1 | c.1077G>A (p.Val359=) c.-28-769G>A (n.-28-769G>A) c.150G>A (p.Val50=) | ClinVar dbSNP |
14 | g.24259158A= | CA2123854587 | TGM1 | c.1076T= (p.Val359=) c.-28-770T= (n.-28-770T=) c.149T= (p.Val50=) | |
14 | g.24259158A>C | CA389264549 | TGM1 | c.1076T>G (p.Val359Gly) c.-28-770T>G (n.-28-770T>G) c.149T>G (p.Val50Gly) | |
14 | g.24259158A>G | CA389264561 | TGM1 | c.1076T>C (p.Val359Ala) c.-28-770T>C (n.-28-770T>C) c.149T>C (p.Val50Ala) | dbSNP |
14 | g.24259158A>T | CA389264570 | TGM1 | c.1076T>A (p.Val359Glu) c.-28-770T>A (n.-28-770T>A) c.149T>A (p.Val50Glu) | |
14 | g.24259159C>A | CA389264588 | TGM1 | c.1075G>T (p.Val359Leu) c.-28-771G>T (n.-28-771G>T) c.148G>T (p.Val50Leu) | |
14 | g.24259159C= | CA2123854588 | TGM1 | c.1075G= (p.Val359=) c.-28-771G= (n.-28-771G=) c.148G= (p.Val50=) | |
14 | g.24259159C>G | CA389264596 | TGM1 | c.1075G>C (p.Val359Leu) c.-28-771G>C (n.-28-771G>C) c.148G>C (p.Val50Leu) | |
14 | g.24259159C>T | CA261154 | TGM1 | c.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 |
14 | g.24259160del | CA2695219177 | TGM1 | c.1074del (p.Ser358ArgfsTer26) c.-28-772del (n.-28-772del) c.147del (p.Ser49ArgfsTer26) | |
14 | g.24259160G>A | CA485663916 | TGM1 | c.1074C>T (p.Ser358=) c.-28-772C>T (n.-28-772C>T) c.147C>T (p.Ser49=) | ClinVar dbSNP gnomAD v4 |
14 | g.24259160G>C | CA7131199 | TGM1 | c.1074C>G (p.Ser358Arg) c.-28-772C>G (n.-28-772C>G) c.147C>G (p.Ser49Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.24259160G= | CA2123854589 | TGM1 | c.1074C= (p.Ser358=) c.-28-772C= (n.-28-772C=) c.147C= (p.Ser49=) | |
14 | g.24259160G>T | CA389264639 | TGM1 | c.1074C>A (p.Ser358Arg) c.-28-772C>A (n.-28-772C>A) c.147C>A (p.Ser49Arg) | |
14 | g.24259161C>A | CA389264652 | TGM1 | c.1073G>T (p.Ser358Ile) c.-28-773G>T (n.-28-773G>T) c.146G>T (p.Ser49Ile) | |
14 | g.24259161C>G | CA389264666 | TGM1 | c.1073G>C (p.Ser358Thr) c.-28-773G>C (n.-28-773G>C) c.146G>C (p.Ser49Thr) | |
14 | g.24259161C>T | CA389264663 | TGM1 | c.1073G>A (p.Ser358Asn) c.-28-773G>A (n.-28-773G>A) c.146G>A (p.Ser49Asn) | ClinVar |
14 | g.24259162T>A | CA389264672 | TGM1 | c.1072A>T (p.Ser358Cys) c.-28-774A>T (n.-28-774A>T) c.145A>T (p.Ser49Cys) | |
14 | g.24259162T>C | CA389264685 | TGM1 | c.1072A>G (p.Ser358Gly) c.-28-774A>G (n.-28-774A>G) c.145A>G (p.Ser49Gly) | |
14 | g.24259162T>G | CA389264684 | TGM1 | c.1072A>C (p.Ser358Arg) c.-28-774A>C (n.-28-774A>C) c.145A>C (p.Ser49Arg) | |
14 | g.24259163G>A | CA485663926 | TGM1 | c.1071C>T (p.Gly357=) c.-28-775C>T (n.-28-775C>T) c.144C>T (p.Gly48=) | |
14 | g.24259163G>C | CA485663928 | TGM1 | c.1071C>G (p.Gly357=) c.-28-775C>G (n.-28-775C>G) c.144C>G (p.Gly48=) | |
14 | g.24259163G>T | CA485663929 | TGM1 | c.1071C>A (p.Gly357=) c.-28-775C>A (n.-28-775C>A) c.144C>A (p.Gly48=) | |
14 | g.24259164C>A | CA389264686 | TGM1 | c.1070G>T (p.Gly357Val) c.-28-776G>T (n.-28-776G>T) c.143G>T (p.Gly48Val) | |
14 | g.24259164C>G | CA389264689 | TGM1 | c.1070G>C (p.Gly357Ala) c.-28-776G>C (n.-28-776G>C) c.143G>C (p.Gly48Ala) | |
14 | g.24259164C>T | CA389264694 | TGM1 | c.1070G>A (p.Gly357Asp) c.-28-776G>A (n.-28-776G>A) c.143G>A (p.Gly48Asp) | |
14 | g.24259169_24259172del | CA2624346242 | TGM1 | c.1067_1070del (p.Val356AlafsTer27) c.-28-779_-28-776del (n.-28-779_-28-776del) c.140_143del (p.Val47AlafsTer27) | gnomAD v4 |
14 | g.24259165C>A | CA389264702 | TGM1 | c.1069G>T (p.Gly357Cys) c.-28-777G>T (n.-28-777G>T) c.142G>T (p.Gly48Cys) | |
14 | g.24259165C= | CA2123854590 | TGM1 | c.1069G= (p.Gly357=) c.-28-777G= (n.-28-777G=) c.142G= (p.Gly48=) | |
14 | g.24259165C>G | CA389264712 | TGM1 | c.1069G>C (p.Gly357Arg) c.-28-777G>C (n.-28-777G>C) c.142G>C (p.Gly48Arg) | |
14 | g.24259165C>T | CA7131200 | TGM1 | c.1069G>A (p.Gly357Ser) c.-28-777G>A (n.-28-777G>A) c.142G>A (p.Gly48Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.24259166C>A | CA485663943 | TGM1 | c.1068G>T (p.Val356=) c.-28-778G>T (n.-28-778G>T) c.141G>T (p.Val47=) | |
14 | g.24259166C>G | CA485663940 | TGM1 | c.1068G>C (p.Val356=) c.-28-778G>C (n.-28-778G>C) c.141G>C (p.Val47=) | |
14 | g.24259166C>T | CA485663938 | TGM1 | c.1068G>A (p.Val356=) c.-28-778G>A (n.-28-778G>A) c.141G>A (p.Val47=) | |
14 | g.24259167A>C | CA389264717 | TGM1 | c.1067T>G (p.Val356Gly) c.-28-779T>G (n.-28-779T>G) c.140T>G (p.Val47Gly) | |
14 | g.24259167A>G | CA389264718 | TGM1 | c.1067T>C (p.Val356Ala) c.-28-779T>C (n.-28-779T>C) c.140T>C (p.Val47Ala) | |
14 | g.24259167A>T | CA389264719 | TGM1 | c.1067T>A (p.Val356Glu) c.-28-779T>A (n.-28-779T>A) c.140T>A (p.Val47Glu) | |
14 | g.24259168C>A | CA389264725 | TGM1 | c.1066G>T (p.Val356Leu) c.-28-780G>T (n.-28-780G>T) c.139G>T (p.Val47Leu) | |
14 | g.24259168C>G | CA389264726 | TGM1 | c.1066G>C (p.Val356Leu) c.-28-780G>C (n.-28-780G>C) c.139G>C (p.Val47Leu) | gnomAD v4 |
14 | g.24259168C>T | CA389264727 | TGM1 | c.1066G>A (p.Val356Met) c.-28-780G>A (n.-28-780G>A) c.139G>A (p.Val47Met) | |
14 | g.24259169C>A | CA389264742 | TGM1 | c.1065G>T (p.Trp355Cys) c.-28-781G>T (n.-28-781G>T) c.138G>T (p.Trp46Cys) | gnomAD v4 |
14 | g.24259169C>G | CA389264729 | TGM1 | c.1065G>C (p.Trp355Cys) c.-28-781G>C (n.-28-781G>C) c.138G>C (p.Trp46Cys) | |
14 | g.24259169C>T | CA389264732 | TGM1 | c.1065G>A (p.Trp355Ter) c.-28-781G>A (n.-28-781G>A) c.138G>A (p.Trp46Ter) | |
14 | g.24259170C>A | CA389264752 | TGM1 | c.1064G>T (p.Trp355Leu) c.-28-782G>T (n.-28-782G>T) c.137G>T (p.Trp46Leu) | |
14 | g.24259170C>G | CA389264755 | TGM1 | c.1064G>C (p.Trp355Ser) c.-28-782G>C (n.-28-782G>C) c.137G>C (p.Trp46Ser) | |
14 | g.24259170C>T | CA389264757 | TGM1 | c.1064G>A (p.Trp355Ter) c.-28-782G>A (n.-28-782G>A) c.137G>A (p.Trp46Ter) | |
14 | g.24259171A>C | CA389264758 | TGM1 | c.1063T>G (p.Trp355Gly) c.-28-783T>G (n.-28-783T>G) c.136T>G (p.Trp46Gly) | |
14 | g.24259171A>G | CA389264759 | TGM1 | c.1063T>C (p.Trp355Arg) c.-28-783T>C (n.-28-783T>C) c.136T>C (p.Trp46Arg) | |
14 | g.24259171A>T | CA389264761 | TGM1 | c.1063T>A (p.Trp355Arg) c.-28-783T>A (n.-28-783T>A) c.136T>A (p.Trp46Arg) | |
14 | g.24259172C>A | CA485663947 | TGM1 | c.1062G>T (p.Ala354=) c.-28-784G>T (n.-28-784G>T) c.135G>T (p.Ala45=) | ClinVar |
14 | g.24259172C= | CA2123854591 | TGM1 | c.1062G= (p.Ala354=) c.-28-784G= (n.-28-784G=) c.135G= (p.Ala45=) | |
14 | g.24259172C>G | CA7131202 | TGM1 | c.1062G>C (p.Ala354=) c.-28-784G>C (n.-28-784G>C) c.135G>C (p.Ala45=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.24259172C>T | CA7131201 | TGM1 | c.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 |
14 | g.24259173G>A | CA389264784 | TGM1 | c.1061C>T (p.Ala354Val) c.-28-785C>T (n.-28-785C>T) c.134C>T (p.Ala45Val) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.24259173G>C | CA389264785 | TGM1 | c.1061C>G (p.Ala354Gly) c.-28-785C>G (n.-28-785C>G) c.134C>G (p.Ala45Gly) | |
14 | g.24259173G= | CA2123854592 | TGM1 | c.1061C= (p.Ala354=) c.-28-785C= (n.-28-785C=) c.134C= (p.Ala45=) | |
14 | g.24259173G>T | CA389264791 | TGM1 | c.1061C>A (p.Ala354Glu) c.-28-785C>A (n.-28-785C>A) c.134C>A (p.Ala45Glu) | |
14 | g.24259174C>A | CA389264820 | TGM1 | c.1060G>T (p.Ala354Ser) c.-28-786G>T (n.-28-786G>T) c.133G>T (p.Ala45Ser) | |
14 | g.24259174C>G | CA389264801 | TGM1 | c.1060G>C (p.Ala354Pro) c.-28-786G>C (n.-28-786G>C) c.133G>C (p.Ala45Pro) | |
14 | g.24259174C>T | CA389264798 | TGM1 | c.1060G>A (p.Ala354Thr) c.-28-786G>A (n.-28-786G>A) c.133G>A (p.Ala45Thr) | gnomAD v4 |
14 | g.24259175T>A | CA7131203 | TGM1 | c.1059A>T (p.Ser353=) c.-28-787A>T (n.-28-787A>T) c.132A>T (p.Ser44=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.24259175T>C | CA485663948 | TGM1 | c.1059A>G (p.Ser353=) c.-28-787A>G (n.-28-787A>G) c.132A>G (p.Ser44=) | |
14 | g.24259175T>G | CA485663949 | TGM1 | c.1059A>C (p.Ser353=) c.-28-787A>C (n.-28-787A>C) c.132A>C (p.Ser44=) | |
14 | g.24259175T= | CA2123854593 | TGM1 | c.1059A= (p.Ser353=) c.-28-787A= (n.-28-787A=) c.132A= (p.Ser44=) | |
14 | g.24259176G>A | CA389264828 | TGM1 | c.1058C>T (p.Ser353Leu) c.-28-788C>T (n.-28-788C>T) c.131C>T (p.Ser44Leu) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24259176G>C | CA389264833 | TGM1 | c.1058C>G (p.Ser353Ter) c.-28-788C>G (n.-28-788C>G) c.131C>G (p.Ser44Ter) | |
14 | g.24259176G= | CA2123854594 | TGM1 | c.1058C= (p.Ser353=) c.-28-788C= (n.-28-788C=) c.131C= (p.Ser44=) | |
14 | g.24259176G>T | CA389264846 | TGM1 | c.1058C>A (p.Ser353Ter) c.-28-788C>A (n.-28-788C>A) c.131C>A (p.Ser44Ter) | |
14 | g.24259177A>C | CA389264857 | TGM1 | c.1057T>G (p.Ser353Ala) c.-28-789T>G (n.-28-789T>G) c.130T>G (p.Ser44Ala) | |
14 | g.24259177A>G | CA389264863 | TGM1 | c.1057T>C (p.Ser353Pro) c.-28-789T>C (n.-28-789T>C) c.130T>C (p.Ser44Pro) | |
14 | g.24259177A>T | CA389264867 | TGM1 | c.1057T>A (p.Ser353Thr) c.-28-789T>A (n.-28-789T>A) c.130T>A (p.Ser44Thr) | |
14 | g.24259178T>A | CA485663954 | TGM1 | c.1056A>T (p.Pro352=) c.-28-790A>T (n.-28-790A>T) c.129A>T (p.Pro43=) | |
14 | g.24259178T>C | CA257898636 | TGM1 | c.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 |
14 | g.24259178T>G | CA485663955 | TGM1 | c.1056A>C (p.Pro352=) c.-28-790A>C (n.-28-790A>C) c.129A>C (p.Pro43=) | |
14 | g.24259178T= | CA2123854595 | TGM1 | c.1056A= (p.Pro352=) c.-28-790A= (n.-28-790A=) c.129A= (p.Pro43=) | |
14 | g.24259179G>A | CA389264875 | TGM1 | c.1055C>T (p.Pro352Leu) c.-28-791C>T (n.-28-791C>T) c.128C>T (p.Pro43Leu) | ClinVar dbSNP |
14 | g.24259179G>C | CA389264897 | TGM1 | c.1055C>G (p.Pro352Arg) c.-28-791C>G (n.-28-791C>G) c.128C>G (p.Pro43Arg) | |
14 | g.24259179G= | CA2123854596 | TGM1 | c.1055C= (p.Pro352=) c.-28-791C= (n.-28-791C=) c.128C= (p.Pro43=) | |
14 | g.24259179G>T | CA389264902 | TGM1 | c.1055C>A (p.Pro352Gln) c.-28-791C>A (n.-28-791C>A) c.128C>A (p.Pro43Gln) | gnomAD v4 |
14 | g.24259180G>A | CA389264903 | TGM1 | c.1054C>T (p.Pro352Ser) c.-28-792C>T (n.-28-792C>T) c.127C>T (p.Pro43Ser) | |
14 | g.24259180G>C | CA389264904 | TGM1 | c.1054C>G (p.Pro352Ala) c.-28-792C>G (n.-28-792C>G) c.127C>G (p.Pro43Ala) | ClinVar dbSNP |
14 | g.24259180G= | CA2123854597 | TGM1 | c.1054C= (p.Pro352=) c.-28-792C= (n.-28-792C=) c.127C= (p.Pro43=) | |
14 | g.24259180G>T | CA389264907 | TGM1 | c.1054C>A (p.Pro352Thr) c.-28-792C>A (n.-28-792C>A) c.127C>A (p.Pro43Thr) | |
14 | g.24259181G>A | CA485663959 | TGM1 | c.1053C>T (p.Asn351=) c.-28-793C>T (n.-28-793C>T) c.126C>T (p.Asn42=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.24259181G>C | CA389264912 | TGM1 | c.1053C>G (p.Asn351Lys) c.-28-793C>G (n.-28-793C>G) c.126C>G (p.Asn42Lys) | |
14 | g.24259181G= | CA2123854598 | TGM1 | c.1053C= (p.Asn351=) c.-28-793C= (n.-28-793C=) c.126C= (p.Asn42=) | |
14 | g.24259181G>T | CA7131204 | TGM1 | c.1053C>A (p.Asn351Lys) c.-28-793C>A (n.-28-793C>A) c.126C>A (p.Asn42Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.24259182T>A | CA389264914 | TGM1 | c.1052A>T (p.Asn351Ile) c.-28-794A>T (n.-28-794A>T) c.125A>T (p.Asn42Ile) | |
14 | g.24259182T>C | CA389264917 | TGM1 | c.1052A>G (p.Asn351Ser) c.-28-794A>G (n.-28-794A>G) c.125A>G (p.Asn42Ser) | |
14 | g.24259182T>G | CA389264922 | TGM1 | c.1052A>C (p.Asn351Thr) c.-28-794A>C (n.-28-794A>C) c.125A>C (p.Asn42Thr) | |
14 | g.24259183T>A | CA389264928 | TGM1 | c.1051A>T (p.Asn351Tyr) c.-28-795A>T (n.-28-795A>T) c.124A>T (p.Asn42Tyr) | |
14 | g.24259183T>C | CA389264934 | TGM1 | c.1051A>G (p.Asn351Asp) c.-28-795A>G (n.-28-795A>G) c.124A>G (p.Asn42Asp) | |
14 | g.24259183T>G | CA389264935 | TGM1 | c.1051A>C (p.Asn351His) c.-28-795A>C (n.-28-795A>C) c.124A>C (p.Asn42His) | |
14 | g.24259184G>A | CA485663962 | TGM1 | c.1050C>T (p.Thr350=) c.-28-796C>T (n.-28-796C>T) c.123C>T (p.Thr41=) | dbSNP gnomAD v2 |
14 | g.24259184G>C | CA485663963 | TGM1 | c.1050C>G (p.Thr350=) c.-28-796C>G (n.-28-796C>G) c.123C>G (p.Thr41=) | |
14 | g.24259184G= | CA2123854599 | TGM1 | c.1050C= (p.Thr350=) c.-28-796C= (n.-28-796C=) c.123C= (p.Thr41=) | |
14 | g.24259184G>T | CA485663964 | TGM1 | c.1050C>A (p.Thr350=) c.-28-796C>A (n.-28-796C>A) c.123C>A (p.Thr41=) | |
14 | g.24259185G>A | CA389264936 | TGM1 | c.1049C>T (p.Thr350Ile) c.-28-797C>T (n.-28-797C>T) c.122C>T (p.Thr41Ile) | |
14 | g.24259185G>C | CA389264938 | TGM1 | c.1049C>G (p.Thr350Ser) c.-28-797C>G (n.-28-797C>G) c.122C>G (p.Thr41Ser) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.24259185G= | CA2123854600 | TGM1 | c.1049C= (p.Thr350=) c.-28-797C= (n.-28-797C=) c.122C= (p.Thr41=) | |
14 | g.24259185G>T | CA389264940 | TGM1 | c.1049C>A (p.Thr350Asn) c.-28-797C>A (n.-28-797C>A) c.122C>A (p.Thr41Asn) | |
14 | g.24259186T>A | CA389264942 | TGM1 | c.1048A>T (p.Thr350Ser) c.-28-798A>T (n.-28-798A>T) c.121A>T (p.Thr41Ser) | |
14 | g.24259186T>C | CA389264947 | TGM1 | c.1048A>G (p.Thr350Ala) c.-28-798A>G (n.-28-798A>G) c.121A>G (p.Thr41Ala) | |
14 | g.24259186T>G | CA389264952 | TGM1 | c.1048A>C (p.Thr350Pro) c.-28-798A>C (n.-28-798A>C) c.121A>C (p.Thr41Pro) | |
14 | g.24259187G>A | CA485663974 | TGM1 | c.1047C>T (p.Gly349=) c.-28-799C>T (n.-28-799C>T) c.120C>T (p.Gly40=) | |
14 | g.24259187G>C | CA485663972 | TGM1 | c.1047C>G (p.Gly349=) c.-28-799C>G (n.-28-799C>G) c.120C>G (p.Gly40=) | |
14 | g.24259187G>T | CA485663970 | TGM1 | c.1047C>A (p.Gly349=) c.-28-799C>A (n.-28-799C>A) c.120C>A (p.Gly40=) | |
14 | g.24259188C>A | CA389264968 | TGM1 | c.1046G>T (p.Gly349Val) c.-28-800G>T (n.-28-800G>T) c.119G>T (p.Gly40Val) | |
14 | g.24259188C= | CA2123854601 | TGM1 | c.1046G= (p.Gly349=) c.-28-800G= (n.-28-800G=) c.119G= (p.Gly40=) | |
14 | g.24259188C>G | CA389264963 | TGM1 | c.1046G>C (p.Gly349Ala) c.-28-800G>C (n.-28-800G>C) c.119G>C (p.Gly40Ala) | |
14 | g.24259188C>T | CA389264961 | TGM1 | c.1046G>A (p.Gly349Asp) c.-28-800G>A (n.-28-800G>A) c.119G>A (p.Gly40Asp) | dbSNP |
14 | g.24259189C>A | CA389264969 | TGM1 | c.1045G>T (p.Gly349Cys) c.-28-801G>T (n.-28-801G>T) c.118G>T (p.Gly40Cys) | |
14 | g.24259189C= | CA2123854602 | TGM1 | c.1045G= (p.Gly349=) c.-28-801G= (n.-28-801G=) c.118G= (p.Gly40=) | |
14 | g.24259189C>G | CA389264972 | TGM1 | c.1045G>C (p.Gly349Arg) c.-28-801G>C (n.-28-801G>C) c.118G>C (p.Gly40Arg) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.24259189C>T | CA7131205 | TGM1 | c.1045G>A (p.Gly349Ser) c.-28-801G>A (n.-28-801G>A) c.118G>A (p.Gly40Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.24259190T>A | CA485663977 | TGM1 | c.1044A>T (p.Arg348=) c.-28-802A>T (n.-28-802A>T) c.117A>T (p.Arg39=) | |
14 | g.24259190T>C | CA485663978 | TGM1 | c.1044A>G (p.Arg348=) c.-28-802A>G (n.-28-802A>G) c.117A>G (p.Arg39=) | |
14 | g.24259190T>G | CA485663979 | TGM1 | c.1044A>C (p.Arg348=) c.-28-802A>C (n.-28-802A>C) c.117A>C (p.Arg39=) | |
14 | g.24259191C>A | CA389264988 | TGM1 | c.1043G>T (p.Arg348Leu) c.-28-803G>T (n.-28-803G>T) c.116G>T (p.Arg39Leu) | |
14 | g.24259191C= | CA2123854603 | TGM1 | c.1043G= (p.Arg348=) c.-28-803G= (n.-28-803G=) c.116G= (p.Arg39=) | |
14 | g.24259191C>G | CA389264994 | TGM1 | c.1043G>C (p.Arg348Pro) c.-28-803G>C (n.-28-803G>C) c.116G>C (p.Arg39Pro) | dbSNP |
14 | g.24259191C>T | CA7131206 | TGM1 | c.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 |
14 | g.24259192G>A | CA389265004 | TGM1 | c.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 |
14 | g.24259192G>C | CA389265012 | TGM1 | c.1042C>G (p.Arg348Gly) c.-28-804C>G (n.-28-804C>G) c.115C>G (p.Arg39Gly) | |
14 | g.24259192G= | CA2123854604 | TGM1 | c.1042C= (p.Arg348=) c.-28-804C= (n.-28-804C=) c.115C= (p.Arg39=) | |
14 | g.24259192G>T | CA485663981 | TGM1 | c.1042C>A (p.Arg348=) c.-28-804C>A (n.-28-804C>A) c.115C>A (p.Arg39=) | |
14 | g.24259192_24259193insAG | CA658824898 | TGM1 | c.1042_1043insTC (p.Arg348LeufsTer?) c.-28-804_-28-803insTC (n.-28-804_-28-803insTC) c.115_116insTC (p.Arg39LeufsTer?) | ClinVar dbSNP |
14 | g.24259193G>A | CA257898662 | TGM1 | c.1041C>T (p.Ser347=) c.-28-805C>T (n.-28-805C>T) c.114C>T (p.Ser38=) | dbSNP |
14 | g.24259193G>C | CA7131207 | TGM1 | c.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 |
14 | g.24259193G= | CA2123854605 | TGM1 | c.1041C= (p.Ser347=) c.-28-805C= (n.-28-805C=) c.114C= (p.Ser38=) | |
14 | g.24259193G>T | CA485663982 | TGM1 | c.1041C>A (p.Ser347=) c.-28-805C>A (n.-28-805C>A) c.114C>A (p.Ser38=) | |
14 | g.24259194G>A | CA389265015 | TGM1 | c.1040C>T (p.Ser347Phe) c.-28-806C>T (n.-28-806C>T) c.113C>T (p.Ser38Phe) | |
14 | g.24259194G>C | CA389265018 | TGM1 | c.1040C>G (p.Ser347Cys) c.-28-806C>G (n.-28-806C>G) c.113C>G (p.Ser38Cys) | |
14 | g.24259194G>T | CA389265023 | TGM1 | c.1040C>A (p.Ser347Tyr) c.-28-806C>A (n.-28-806C>A) c.113C>A (p.Ser38Tyr) | |
14 | g.24259195A>C | CA389265026 | TGM1 | c.1039T>G (p.Ser347Ala) c.-28-807T>G (n.-28-807T>G) c.112T>G (p.Ser38Ala) | |
14 | g.24259195A>G | CA389265028 | TGM1 | c.1039T>C (p.Ser347Pro) c.-28-807T>C (n.-28-807T>C) c.112T>C (p.Ser38Pro) | |
14 | g.24259195A>T | CA389265030 | TGM1 | c.1039T>A (p.Ser347Thr) c.-28-807T>A (n.-28-807T>A) c.112T>A (p.Ser38Thr) | |
14 | g.24259196G>A | CA485663985 | TGM1 | c.1038C>T (p.Tyr346=) c.-28-808C>T (n.-28-808C>T) c.111C>T (p.Tyr37=) | gnomAD v4 |
14 | g.24259196G>C | CA389265034 | TGM1 | c.1038C>G (p.Tyr346Ter) c.-28-808C>G (n.-28-808C>G) c.111C>G (p.Tyr37Ter) | |
14 | g.24259196G>T | CA389265039 | TGM1 | c.1038C>A (p.Tyr346Ter) c.-28-808C>A (n.-28-808C>A) c.111C>A (p.Tyr37Ter) | ClinVar |
14 | g.24259197T>A | CA389265052 | TGM1 | c.1037A>T (p.Tyr346Phe) c.-28-809A>T (n.-28-809A>T) c.110A>T (p.Tyr37Phe) | |
14 | g.24259197T>C | CA389265046 | TGM1 | c.1037A>G (p.Tyr346Cys) c.-28-809A>G (n.-28-809A>G) c.110A>G (p.Tyr37Cys) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.24259197T>G | CA389265050 | TGM1 | c.1037A>C (p.Tyr346Ser) c.-28-809A>C (n.-28-809A>C) c.110A>C (p.Tyr37Ser) | |
14 | g.24259197T= | CA2123854606 | TGM1 | c.1037A= (p.Tyr346=) c.-28-809A= (n.-28-809A=) c.110A= (p.Tyr37=) | |
14 | g.24259198A>C | CA389265058 | TGM1 | c.1036T>G (p.Tyr346Asp) c.-28-810T>G (n.-28-810T>G) c.109T>G (p.Tyr37Asp) | |
14 | g.24259198A>G | CA389265067 | TGM1 | c.1036T>C (p.Tyr346His) c.-28-810T>C (n.-28-810T>C) c.109T>C (p.Tyr37His) | |
14 | g.24259198A>T | CA389265075 | TGM1 | c.1036T>A (p.Tyr346Asn) c.-28-810T>A (n.-28-810T>A) c.109T>A (p.Tyr37Asn) | |
14 | g.24259199A>C | CA389265080 | TGM1 | c.1035T>G (p.Asp345Glu) c.-28-811T>G (n.-28-811T>G) c.108T>G (p.Asp36Glu) | |
14 | g.24259199A>G | CA485663988 | TGM1 | c.1035T>C (p.Asp345=) c.-28-811T>C (n.-28-811T>C) c.108T>C (p.Asp36=) | |
14 | g.24259199A>T | CA389265081 | TGM1 | c.1035T>A (p.Asp345Glu) c.-28-811T>A (n.-28-811T>A) c.108T>A (p.Asp36Glu) | gnomAD v4 |
14 | g.24259200T>A | CA389265082 | TGM1 | c.1034A>T (p.Asp345Val) c.-28-812A>T (n.-28-812A>T) c.107A>T (p.Asp36Val) | |
14 | g.24259200T>C | CA389265083 | TGM1 | c.1034A>G (p.Asp345Gly) c.-28-812A>G (n.-28-812A>G) c.107A>G (p.Asp36Gly) | |
14 | g.24259200T>G | CA389265086 | TGM1 | c.1034A>C (p.Asp345Ala) c.-28-812A>C (n.-28-812A>C) c.107A>C (p.Asp36Ala) | gnomAD v4 |
14 | g.24259201C>A | CA389265094 | TGM1 | c.1033G>T (p.Asp345Tyr) c.-28-813G>T (n.-28-813G>T) c.106G>T (p.Asp36Tyr) | |
14 | g.24259201C= | CA2123854607 | TGM1 | c.1033G= (p.Asp345=) c.-28-813G= (n.-28-813G=) c.106G= (p.Asp36=) | |
14 | g.24259201C>G | CA389265098 | TGM1 | c.1033G>C (p.Asp345His) c.-28-813G>C (n.-28-813G>C) c.106G>C (p.Asp36His) | |
14 | g.24259201C>T | CA7131208 | TGM1 | c.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 |
14 | g.24259202A>C | CA485663992 | TGM1 | c.1032T>G (p.Gly344=) c.-28-814T>G (n.-28-814T>G) c.105T>G (p.Gly35=) | gnomAD v4 |
14 | g.24259202A>G | CA485663993 | TGM1 | c.1032T>C (p.Gly344=) c.-28-814T>C (n.-28-814T>C) c.105T>C (p.Gly35=) | |
14 | g.24259202A>T | CA485663994 | TGM1 | c.1032T>A (p.Gly344=) c.-28-814T>A (n.-28-814T>A) c.105T>A (p.Gly35=) | |
14 | g.24259203C>A | CA389265104 | TGM1 | c.1031G>T (p.Gly344Val) c.-28-815G>T (n.-28-815G>T) c.104G>T (p.Gly35Val) | |
14 | g.24259203C>G | CA389265103 | TGM1 | c.1031G>C (p.Gly344Ala) c.-28-815G>C (n.-28-815G>C) c.104G>C (p.Gly35Ala) | ClinVar |
14 | g.24259203C>T | CA389265102 | TGM1 | c.1031G>A (p.Gly344Asp) c.-28-815G>A (n.-28-815G>A) c.104G>A (p.Gly35Asp) | gnomAD v4 |
14 | g.24259204C>A | CA389265125 | TGM1 | c.1030G>T (p.Gly344Cys) c.-28-816G>T (n.-28-816G>T) c.103G>T (p.Gly35Cys) | |
14 | g.24259204C= | CA2123854608 | TGM1 | c.1030G= (p.Gly344=) c.-28-816G= (n.-28-816G=) c.103G= (p.Gly35=) | |
14 | g.24259204C>G | CA389265105 | TGM1 | c.1030G>C (p.Gly344Arg) c.-28-816G>C (n.-28-816G>C) c.103G>C (p.Gly35Arg) | |
14 | g.24259204C>T | CA389265120 | TGM1 | c.1030G>A (p.Gly344Ser) c.-28-816G>A (n.-28-816G>A) c.103G>A (p.Gly35Ser) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24259205A>C | CA485663997 | TGM1 | c.1029T>G (p.Ser343=) c.-28-817T>G (n.-28-817T>G) c.102T>G (p.Ser34=) | |
14 | g.24259205A>G | CA485663998 | TGM1 | c.1029T>C (p.Ser343=) c.-28-817T>C (n.-28-817T>C) c.102T>C (p.Ser34=) | |
14 | g.24259205A>T | CA485663999 | TGM1 | c.1029T>A (p.Ser343=) c.-28-817T>A (n.-28-817T>A) c.102T>A (p.Ser34=) | |
14 | g.24259206G>A | CA389265136 | TGM1 | c.1028C>T (p.Ser343Phe) c.-28-818C>T (n.-28-818C>T) c.101C>T (p.Ser34Phe) | |
14 | g.24259206G>C | CA389265151 | TGM1 | c.1028C>G (p.Ser343Cys) c.-28-818C>G (n.-28-818C>G) c.101C>G (p.Ser34Cys) | |
14 | g.24259206G>T | CA389265154 | TGM1 | c.1028C>A (p.Ser343Tyr) c.-28-818C>A (n.-28-818C>A) c.101C>A (p.Ser34Tyr) | |
14 | g.24259207A>C | CA389265173 | TGM1 | c.1027T>G (p.Ser343Ala) c.-28-819T>G (n.-28-819T>G) c.100T>G (p.Ser34Ala) | |
14 | g.24259207A>G | CA389265170 | TGM1 | c.1027T>C (p.Ser343Pro) c.-28-819T>C (n.-28-819T>C) c.100T>C (p.Ser34Pro) | |
14 | g.24259207A>T | CA389265168 | TGM1 | c.1027T>A (p.Ser343Thr) c.-28-819T>A (n.-28-819T>A) c.100T>A (p.Ser34Thr) |