Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.24259080_24259081insGCCTCCCTTCTCCCTGTAGGGCCCGGGCCACTCCTGTCCCAGTCCCTCCACTACCTGTGG | CA2624346220 | TGM1 | c.1159+53_1159+54insCCCACAGGTAGTGGAGGGACTGGGACAGGAGTGGCCCGGGCCCTACAGGGAGAAGGGAGG c.-28-634_-28-633insCCCACAGGTAGTGGAGGGACTGGGACAGGAGTGGCCCGGGCCCTACAGGGAGAAGGGAGG (n.-28-634_-28-633insCCCACAGGTAGTGGAGGGACTGGGACAGGAGTGGCCCGGGCCCTACAGGGAGAAGGGAGG) c.232+53_232+54insCCCACAGGTAGTGGAGGGACTGGGACAGGAGTGGCCCGGGCCCTACAGGGAGAAGGGAGG | gnomAD v4 |
14 | g.24259058C= | CA2123854548 | TGM1 | c.1159+17G= (n.1159+17G=) c.-28-670G= (n.-28-670G=) c.232+17G= (n.232+17G=) | |
14 | g.24259058C>G | CA2624346238 | TGM1 | c.1159+17G>C (n.1159+17G>C) c.-28-670G>C (n.-28-670G>C) c.232+17G>C (n.232+17G>C) | gnomAD v4 |
14 | g.24259058C>T | CA7131182 | TGM1 | c.1159+17G>A (n.1159+17G>A) c.-28-670G>A (n.-28-670G>A) c.232+17G>A (n.232+17G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24259061A= | CA2123854549 | TGM1 | c.1159+14T= (n.1159+14T=) c.-28-673T= (n.-28-673T=) c.232+14T= (n.232+14T=) | |
14 | g.24259061A>G | CA612959285 | TGM1 | c.1159+14T>C (n.1159+14T>C) c.-28-673T>C (n.-28-673T>C) c.232+14T>C (n.232+14T>C) | dbSNP gnomAD v2 |
14 | g.24259066C= | CA2123854550 | TGM1 | c.1159+9G= (n.1159+9G=) c.-28-678G= (n.-28-678G=) c.232+9G= (n.232+9G=) | |
14 | g.24259066C>T | CA704351477 | TGM1 | c.1159+9G>A (n.1159+9G>A) c.-28-678G>A (n.-28-678G>A) c.232+9G>A (n.232+9G>A) | dbSNP |
14 | g.24259067T>G | CA2575493941 | TGM1 | c.1159+8A>C (n.1159+8A>C) c.-28-679A>C (n.-28-679A>C) c.232+8A>C (n.232+8A>C) | ClinVar |
14 | g.24259068C>T | CA2624346239 | TGM1 | c.1159+7G>A (n.1159+7G>A) c.-28-680G>A (n.-28-680G>A) c.232+7G>A (n.232+7G>A) | gnomAD v4 |
14 | g.24259071C= | CA2123854551 | TGM1 | c.1159+4G= (n.1159+4G=) c.-28-683G= (n.-28-683G=) c.232+4G= (n.232+4G=) | |
14 | g.24259071C>T | CA257898446 | TGM1 | c.1159+4G>A (n.1159+4G>A) c.-28-683G>A (n.-28-683G>A) c.232+4G>A (n.232+4G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24259072T>A | CA2123854553 | TGM1 | c.1159+3A>T (n.1159+3A>T) c.-28-684A>T (n.-28-684A>T) c.232+3A>T (n.232+3A>T) | dbSNP gnomAD v4 |
14 | g.24259072T>C | CA612959286 | TGM1 | c.1159+3A>G (n.1159+3A>G) c.-28-684A>G (n.-28-684A>G) c.232+3A>G (n.232+3A>G) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24259072T= | CA2123854552 | TGM1 | c.1159+3A= (n.1159+3A=) c.-28-684A= (n.-28-684A=) c.232+3A= (n.232+3A=) | |
14 | g.24259073A>C | CA389263241 | TGM1 | c.1159+2T>G (n.1159+2T>G) c.-28-685T>G (n.-28-685T>G) c.232+2T>G (n.232+2T>G) | |
14 | g.24259073A>G | CA389263242 | TGM1 | c.1159+2T>C (n.1159+2T>C) c.-28-685T>C (n.-28-685T>C) c.232+2T>C (n.232+2T>C) | |
14 | g.24259073A>T | CA389263262 | TGM1 | c.1159+2T>A (n.1159+2T>A) c.-28-685T>A (n.-28-685T>A) c.232+2T>A (n.232+2T>A) | |
14 | g.24259074C>A | CA389263270 | TGM1 | c.1159+1G>T (n.1159+1G>T) c.-28-686G>T (n.-28-686G>T) c.232+1G>T (n.232+1G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.24259074C= | CA2123854554 | TGM1 | c.1159+1G= (n.1159+1G=) c.-28-686G= (n.-28-686G=) c.232+1G= (n.232+1G=) | |
14 | g.24259074C>G | CA389263280 | TGM1 | c.1159+1G>C (n.1159+1G>C) c.-28-686G>C (n.-28-686G>C) c.232+1G>C (n.232+1G>C) | ClinVar |
14 | g.24259074C>T | CA389263286 | TGM1 | c.1159+1G>A (n.1159+1G>A) c.-28-686G>A (n.-28-686G>A) c.232+1G>A (n.232+1G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.24259074_24259075insAAGTCCAACTCCTACCCGAACGTGGGTACGATCATGTTCGATGAGTTCATGCGTCACGATCACGTCTACCTGGTGGATGAAGTGTCGTTGTTCCTGAACCTGGTCTCAACGATCGTTCGAGAGAAGG | CA2515973798 | TGM1 | c.1159_1159+1insCCTTCTCTCGAACGATCGTTGAGACCAGGTTCAGGAACAACGACACTTCATCCACCAGGTAGACGTGATCGTGACGCATGAACTCATCGAACATGATCGTACCCACGTTCGGGTAGGAGTTGGACTT (n.1159_1159+1insCCTTCTCTCGAACGATCGTTGAGACCAGGTTCAGGAACAACGACACTTCATCCACCAGGTAGACGTGATCGTGACGCATGAACTCATCGAACATGATCGTACCCACGTTCGGGTAGGAGTTGGACTT) c.-28-687_-28-686insCCTTCTCTCGAACGATCGTTGAGACCAGGTTCAGGAACAACGACACTTCATCCACCAGGTAGACGTGATCGTGACGCATGAACTCATCGAACATGATCGTACCCACGTTCGGGTAGGAGTTGGACTT (n.-28-687_-28-686insCCTTCTCTCGAACGATCGTTGAGACCAGGTTCAGGAACAACGACACTTCATCCACCAGGTAGACGTGATCGTGACGCATGAACTCATCGAACATGATCGTACCCACGTTCGGGTAGGAGTTGGACTT) c.232_232+1insCCTTCTCTCGAACGATCGTTGAGACCAGGTTCAGGAACAACGACACTTCATCCACCAGGTAGACGTGATCGTGACGCATGAACTCATCGAACATGATCGTACCCACGTTCGGGTAGGAGTTGGACTT (n.232_232+1insCCTTCTCTCGAACGATCGTTGAGACCAGGTTCAGGAACAACGACACTTCATCCACCAGGTAGACGTGATCGTGACGCATGAACTCATCGAACATGATCGTACCCACGTTCGGGTAGGAGTTGGACTT) | |
14 | g.24259075C>A | CA389263288 | TGM1 | c.1159G>T (p.Val387Leu) c.-28-687G>T (n.-28-687G>T) c.232G>T (p.Val78Leu) | |
14 | g.24259075C= | CA2123854555 | TGM1 | c.1159G= (p.Val387=) c.-28-687G= (n.-28-687G=) c.232G= (p.Val78=) | |
14 | g.24259075C>G | CA389263289 | TGM1 | c.1159G>C (p.Val387Leu) c.-28-687G>C (n.-28-687G>C) c.232G>C (p.Val78Leu) | |
14 | g.24259075C>T | CA257898448 | TGM1 | c.1159G>A (p.Val387Met) c.-28-687G>A (n.-28-687G>A) c.232G>A (p.Val78Met) | dbSNP |
14 | g.24259076T>A | CA485663815 | TGM1 | c.1158A>T (p.Thr386=) c.-28-688A>T (n.-28-688A>T) c.231A>T (p.Thr77=) | |
14 | g.24259076T>C | CA485663816 | TGM1 | c.1158A>G (p.Thr386=) c.-28-688A>G (n.-28-688A>G) c.231A>G (p.Thr77=) | |
14 | g.24259076T>G | CA485663817 | TGM1 | c.1158A>C (p.Thr386=) c.-28-688A>C (n.-28-688A>C) c.231A>C (p.Thr77=) | |
14 | g.24259077G>A | CA389263303 | TGM1 | c.1157C>T (p.Thr386Ile) c.-28-689C>T (n.-28-689C>T) c.230C>T (p.Thr77Ile) | dbSNP |
14 | g.24259077G>C | CA389263307 | TGM1 | c.1157C>G (p.Thr386Arg) c.-28-689C>G (n.-28-689C>G) c.230C>G (p.Thr77Arg) | |
14 | g.24259077G= | CA2123854556 | TGM1 | c.1157C= (p.Thr386=) c.-28-689C= (n.-28-689C=) c.230C= (p.Thr77=) | |
14 | g.24259077G>T | CA389263311 | TGM1 | c.1157C>A (p.Thr386Lys) c.-28-689C>A (n.-28-689C>A) c.230C>A (p.Thr77Lys) | |
14 | g.24259078_24259092del | CA2624346240 | TGM1 | c.1143_1157del (p.Gly382_Thr386del) c.-28-703_-28-689del (n.-28-703_-28-689del) c.216_230del (p.Gly73_Thr77del) | gnomAD v4 |
14 | g.24259078T>A | CA389263321 | TGM1 | c.1156A>T (p.Thr386Ser) c.-28-690A>T (n.-28-690A>T) c.229A>T (p.Thr77Ser) | |
14 | g.24259078T>C | CA389263315 | TGM1 | c.1156A>G (p.Thr386Ala) c.-28-690A>G (n.-28-690A>G) c.229A>G (p.Thr77Ala) | |
14 | g.24259078T>G | CA389263313 | TGM1 | c.1156A>C (p.Thr386Pro) c.-28-690A>C (n.-28-690A>C) c.229A>C (p.Thr77Pro) | |
14 | g.24259079G>A | CA485663818 | TGM1 | c.1155C>T (p.Thr385=) c.-28-691C>T (n.-28-691C>T) c.228C>T (p.Thr76=) | |
14 | g.24259079G>C | CA485663819 | TGM1 | c.1155C>G (p.Thr385=) c.-28-691C>G (n.-28-691C>G) c.228C>G (p.Thr76=) | |
14 | g.24259079G= | CA2123854557 | TGM1 | c.1155C= (p.Thr385=) c.-28-691C= (n.-28-691C=) c.228C= (p.Thr76=) | |
14 | g.24259079G>T | CA7131183 | TGM1 | c.1155C>A (p.Thr385=) c.-28-691C>A (n.-28-691C>A) c.228C>A (p.Thr76=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24259080_24259092del | CA2831039463 | TGM1 | c.1143_1155del (p.Gly382GlnfsTer?) c.-28-703_-28-691del (n.-28-703_-28-691del) c.216_228del (p.Gly73GlnfsTer?) | |
14 | g.24259080G>A | CA389263330 | TGM1 | c.1154C>T (p.Thr385Ile) c.-28-692C>T (n.-28-692C>T) c.227C>T (p.Thr76Ile) | |
14 | g.24259080G>C | CA389263326 | TGM1 | c.1154C>G (p.Thr385Ser) c.-28-692C>G (n.-28-692C>G) c.227C>G (p.Thr76Ser) | |
14 | g.24259080G>T | CA389263337 | TGM1 | c.1154C>A (p.Thr385Asn) c.-28-692C>A (n.-28-692C>A) c.227C>A (p.Thr76Asn) | |
14 | g.24259081T>A | CA389263347 | TGM1 | c.1153A>T (p.Thr385Ser) c.-28-693A>T (n.-28-693A>T) c.226A>T (p.Thr76Ser) | |
14 | g.24259081T>C | CA389263353 | TGM1 | c.1153A>G (p.Thr385Ala) c.-28-693A>G (n.-28-693A>G) c.226A>G (p.Thr76Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24259081T>G | CA389263352 | TGM1 | c.1153A>C (p.Thr385Pro) c.-28-693A>C (n.-28-693A>C) c.226A>C (p.Thr76Pro) | |
14 | g.24259081T= | CA2123854558 | TGM1 | c.1153A= (p.Thr385=) c.-28-693A= (n.-28-693A=) c.226A= (p.Thr76=) | |
14 | g.24259082G>A | CA485663822 | TGM1 | c.1152C>T (p.Thr384=) c.-28-694C>T (n.-28-694C>T) c.225C>T (p.Thr75=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.24259082G>C | CA485663821 | TGM1 | c.1152C>G (p.Thr384=) c.-28-694C>G (n.-28-694C>G) c.225C>G (p.Thr75=) | |
14 | g.24259082G= | CA2123854559 | TGM1 | c.1152C= (p.Thr384=) c.-28-694C= (n.-28-694C=) c.225C= (p.Thr75=) | |
14 | g.24259082G>T | CA485663820 | TGM1 | c.1152C>A (p.Thr384=) c.-28-694C>A (n.-28-694C>A) c.225C>A (p.Thr75=) | |
14 | g.24259083G>A | CA389263364 | TGM1 | c.1151C>T (p.Thr384Ile) c.-28-695C>T (n.-28-695C>T) c.224C>T (p.Thr75Ile) | dbSNP gnomAD v2 |
14 | g.24259083G>C | CA389263374 | TGM1 | c.1151C>G (p.Thr384Ser) c.-28-695C>G (n.-28-695C>G) c.224C>G (p.Thr75Ser) | |
14 | g.24259083G= | CA2123854560 | TGM1 | c.1151C= (p.Thr384=) c.-28-695C= (n.-28-695C=) c.224C= (p.Thr75=) | |
14 | g.24259083G>T | CA389263368 | TGM1 | c.1151C>A (p.Thr384Asn) c.-28-695C>A (n.-28-695C>A) c.224C>A (p.Thr75Asn) | |
14 | g.24259084T>A | CA389263376 | TGM1 | c.1150A>T (p.Thr384Ser) c.-28-696A>T (n.-28-696A>T) c.223A>T (p.Thr75Ser) | |
14 | g.24259084T>C | CA389263377 | TGM1 | c.1150A>G (p.Thr384Ala) c.-28-696A>G (n.-28-696A>G) c.223A>G (p.Thr75Ala) | |
14 | g.24259084T>G | CA389263386 | TGM1 | c.1150A>C (p.Thr384Pro) c.-28-696A>C (n.-28-696A>C) c.223A>C (p.Thr75Pro) | |
14 | g.24259085C>A | CA485663825 | TGM1 | c.1149G>T (p.Val383=) c.-28-697G>T (n.-28-697G>T) c.222G>T (p.Val74=) | |
14 | g.24259085C>G | CA485663824 | TGM1 | c.1149G>C (p.Val383=) c.-28-697G>C (n.-28-697G>C) c.222G>C (p.Val74=) | |
14 | g.24259085C>T | CA485663823 | TGM1 | c.1149G>A (p.Val383=) c.-28-697G>A (n.-28-697G>A) c.222G>A (p.Val74=) | |
14 | g.24259086A>C | CA389263394 | TGM1 | c.1148T>G (p.Val383Gly) c.-28-698T>G (n.-28-698T>G) c.221T>G (p.Val74Gly) | |
14 | g.24259086A>G | CA389263400 | TGM1 | c.1148T>C (p.Val383Ala) c.-28-698T>C (n.-28-698T>C) c.221T>C (p.Val74Ala) | |
14 | g.24259086A>T | CA389263402 | TGM1 | c.1148T>A (p.Val383Glu) c.-28-698T>A (n.-28-698T>A) c.221T>A (p.Val74Glu) | |
14 | g.24259087C>A | CA389263405 | TGM1 | c.1147G>T (p.Val383Leu) c.-28-699G>T (n.-28-699G>T) c.220G>T (p.Val74Leu) | |
14 | g.24259087C= | CA2123854561 | TGM1 | c.1147G= (p.Val383=) c.-28-699G= (n.-28-699G=) c.220G= (p.Val74=) | |
14 | g.24259087C>G | CA389263408 | TGM1 | c.1147G>C (p.Val383Leu) c.-28-699G>C (n.-28-699G>C) c.220G>C (p.Val74Leu) | |
14 | g.24259087C>T | CA256466 | TGM1 | c.1147G>A (p.Val383Met) c.-28-699G>A (n.-28-699G>A) c.220G>A (p.Val74Met) | ClinVar dbSNP gnomAD v4 |
14 | g.24259088G>A | CA7131185 | TGM1 | c.1146C>T (p.Gly382=) c.-28-700C>T (n.-28-700C>T) c.219C>T (p.Gly73=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24259088G>C | CA485663826 | TGM1 | c.1146C>G (p.Gly382=) c.-28-700C>G (n.-28-700C>G) c.219C>G (p.Gly73=) | |
14 | g.24259088G= | CA1630856014 | TGM1 | c.1146C= (p.Gly382=) c.-28-700C= (n.-28-700C=) c.219C= (p.Gly73=) | |
14 | g.24259088G>T | CA7131184 | TGM1 | c.1146C>A (p.Gly382=) c.-28-700C>A (n.-28-700C>A) c.219C>A (p.Gly73=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24259088_24259089delinsAGCA | CA2695199807 | TGM1 | c.1145_1146delinsTGCT (p.Gly382ValfsTer3) c.-28-701_-28-700delinsTGCT (n.-28-701_-28-700delinsTGCT) c.218_219delinsTGCT (p.Gly73ValfsTer3) | ClinVar |
14 | g.24259089C>A | CA389263428 | TGM1 | c.1145G>T (p.Gly382Val) c.-28-701G>T (n.-28-701G>T) c.218G>T (p.Gly73Val) | |
14 | g.24259089C>G | CA389263426 | TGM1 | c.1145G>C (p.Gly382Ala) c.-28-701G>C (n.-28-701G>C) c.218G>C (p.Gly73Ala) | |
14 | g.24259089C>T | CA389263427 | TGM1 | c.1145G>A (p.Gly382Asp) c.-28-701G>A (n.-28-701G>A) c.218G>A (p.Gly73Asp) | |
14 | g.24259090C>A | CA389263439 | TGM1 | c.1144G>T (p.Gly382Cys) c.-28-702G>T (n.-28-702G>T) c.217G>T (p.Gly73Cys) | |
14 | g.24259090C>G | CA389263442 | TGM1 | c.1144G>C (p.Gly382Arg) c.-28-702G>C (n.-28-702G>C) c.217G>C (p.Gly73Arg) | |
14 | g.24259090C>T | CA389263445 | TGM1 | c.1144G>A (p.Gly382Ser) c.-28-702G>A (n.-28-702G>A) c.217G>A (p.Gly73Ser) | |
14 | g.24259091A= | CA2123854562 | TGM1 | c.1143T= (p.Ala381=) c.-28-703T= (n.-28-703T=) c.216T= (p.Ala72=) | |
14 | g.24259091A>C | CA7131186 | TGM1 | c.1143T>G (p.Ala381=) c.-28-703T>G (n.-28-703T>G) c.216T>G (p.Ala72=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24259091A>G | CA485663827 | TGM1 | c.1143T>C (p.Ala381=) c.-28-703T>C (n.-28-703T>C) c.216T>C (p.Ala72=) | |
14 | g.24259091A>T | CA485663828 | TGM1 | c.1143T>A (p.Ala381=) c.-28-703T>A (n.-28-703T>A) c.216T>A (p.Ala72=) | |
14 | g.24259092G>A | CA389263453 | TGM1 | c.1142C>T (p.Ala381Val) c.-28-704C>T (n.-28-704C>T) c.215C>T (p.Ala72Val) | |
14 | g.24259092G>C | CA389263463 | TGM1 | c.1142C>G (p.Ala381Gly) c.-28-704C>G (n.-28-704C>G) c.215C>G (p.Ala72Gly) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24259092G= | CA2123854563 | TGM1 | c.1142C= (p.Ala381=) c.-28-704C= (n.-28-704C=) c.215C= (p.Ala72=) | |
14 | g.24259092G>T | CA389263475 | TGM1 | c.1142C>A (p.Ala381Asp) c.-28-704C>A (n.-28-704C>A) c.215C>A (p.Ala72Asp) | |
14 | g.24259093C>A | CA389263492 | TGM1 | c.1141G>T (p.Ala381Ser) c.-28-705G>T (n.-28-705G>T) c.214G>T (p.Ala72Ser) | gnomAD v4 |
14 | g.24259093C>G | CA389263504 | TGM1 | c.1141G>C (p.Ala381Pro) c.-28-705G>C (n.-28-705G>C) c.214G>C (p.Ala72Pro) | |
14 | g.24259093C>T | CA389263513 | TGM1 | c.1141G>A (p.Ala381Thr) c.-28-705G>A (n.-28-705G>A) c.214G>A (p.Ala72Thr) | |
14 | g.24259094A>C | CA389263516 | TGM1 | c.1140T>G (p.Phe380Leu) c.-28-706T>G (n.-28-706T>G) c.213T>G (p.Phe71Leu) | |
14 | g.24259094A>G | CA485663829 | TGM1 | c.1140T>C (p.Phe380=) c.-28-706T>C (n.-28-706T>C) c.213T>C (p.Phe71=) | |
14 | g.24259094A>T | CA389263515 | TGM1 | c.1140T>A (p.Phe380Leu) c.-28-706T>A (n.-28-706T>A) c.213T>A (p.Phe71Leu) | |
14 | g.24259095A>C | CA389263522 | TGM1 | c.1139T>G (p.Phe380Cys) c.-28-707T>G (n.-28-707T>G) c.212T>G (p.Phe71Cys) | |
14 | g.24259095A>G | CA389263523 | TGM1 | c.1139T>C (p.Phe380Ser) c.-28-707T>C (n.-28-707T>C) c.212T>C (p.Phe71Ser) | |
14 | g.24259095A>T | CA389263524 | TGM1 | c.1139T>A (p.Phe380Tyr) c.-28-707T>A (n.-28-707T>A) c.212T>A (p.Phe71Tyr) | |
14 | g.24259096A= | CA2123854564 | TGM1 | c.1138T= (p.Phe380=) c.-28-708T= (n.-28-708T=) c.211T= (p.Phe71=) | |
14 | g.24259096A>C | CA389263525 | TGM1 | c.1138T>G (p.Phe380Val) c.-28-708T>G (n.-28-708T>G) c.211T>G (p.Phe71Val) | |
14 | g.24259096A>G | CA257898467 | TGM1 | c.1138T>C (p.Phe380Leu) c.-28-708T>C (n.-28-708T>C) c.211T>C (p.Phe71Leu) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.24259096A>T | CA389263549 | TGM1 | c.1138T>A (p.Phe380Ile) c.-28-708T>A (n.-28-708T>A) c.211T>A (p.Phe71Ile) | |
14 | g.24259097G>A | CA485663830 | TGM1 | c.1137C>T (p.Val379=) c.-28-709C>T (n.-28-709C>T) c.210C>T (p.Val70=) | |
14 | g.24259097G>C | CA257898477 | TGM1 | c.1137C>G (p.Val379=) c.-28-709C>G (n.-28-709C>G) c.210C>G (p.Val70=) | ClinVar dbSNP |
14 | g.24259097G= | CA2123854565 | TGM1 | c.1137C= (p.Val379=) c.-28-709C= (n.-28-709C=) c.210C= (p.Val70=) | |
14 | g.24259097G>T | CA485663831 | TGM1 | c.1137C>A (p.Val379=) c.-28-709C>A (n.-28-709C>A) c.210C>A (p.Val70=) | |
14 | g.24259098A= | CA2123854566 | TGM1 | c.1136T= (p.Val379=) c.-28-710T= (n.-28-710T=) c.209T= (p.Val70=) | |
14 | g.24259098A>C | CA389263570 | TGM1 | c.1136T>G (p.Val379Gly) c.-28-710T>G (n.-28-710T>G) c.209T>G (p.Val70Gly) | dbSNP |
14 | g.24259098A>G | CA389263578 | TGM1 | c.1136T>C (p.Val379Ala) c.-28-710T>C (n.-28-710T>C) c.209T>C (p.Val70Ala) | |
14 | g.24259098A>T | CA389263583 | TGM1 | c.1136T>A (p.Val379Asp) c.-28-710T>A (n.-28-710T>A) c.209T>A (p.Val70Asp) | |
14 | g.24259099C>A | CA389263593 | TGM1 | c.1135G>T (p.Val379Phe) c.-28-711G>T (n.-28-711G>T) c.208G>T (p.Val70Phe) | |
14 | g.24259099C= | CA2123854567 | TGM1 | c.1135G= (p.Val379=) c.-28-711G= (n.-28-711G=) c.208G= (p.Val70=) | |
14 | g.24259099C>G | CA256464 | TGM1 | c.1135G>C (p.Val379Leu) c.-28-711G>C (n.-28-711G>C) c.208G>C (p.Val70Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24259099C>T | CA257898498 | TGM1 | c.1135G>A (p.Val379Ile) c.-28-711G>A (n.-28-711G>A) c.208G>A (p.Val70Ile) | dbSNP |
14 | g.24259100C>A | CA389263626 | TGM1 | c.1134G>T (p.Trp378Cys) c.-28-712G>T (n.-28-712G>T) c.207G>T (p.Trp69Cys) | ClinVar gnomAD v4 |
14 | g.24259100C>G | CA389263642 | TGM1 | c.1134G>C (p.Trp378Cys) c.-28-712G>C (n.-28-712G>C) c.207G>C (p.Trp69Cys) | |
14 | g.24259100C>T | CA389263629 | TGM1 | c.1134G>A (p.Trp378Ter) c.-28-712G>A (n.-28-712G>A) c.207G>A (p.Trp69Ter) | |
14 | g.24259101_24259104dup | CA2740097727 | TGM1 | c.1131_1134dup (p.Val379LeufsTer?) c.-28-715_-28-712dup (n.-28-715_-28-712dup) c.204_207dup (p.Val70LeufsTer?) | ClinVar |
14 | g.24259101C>A | CA389263665 | TGM1 | c.1133G>T (p.Trp378Leu) c.-28-713G>T (n.-28-713G>T) c.206G>T (p.Trp69Leu) | COSMIC |
14 | g.24259101C>G | CA389263698 | TGM1 | c.1133G>C (p.Trp378Ser) c.-28-713G>C (n.-28-713G>C) c.206G>C (p.Trp69Ser) | gnomAD v4 |
14 | g.24259101C>T | CA389263711 | TGM1 | c.1133G>A (p.Trp378Ter) c.-28-713G>A (n.-28-713G>A) c.206G>A (p.Trp69Ter) | |
14 | g.24259102A>C | CA389263718 | TGM1 | c.1132T>G (p.Trp378Gly) c.-28-714T>G (n.-28-714T>G) c.205T>G (p.Trp69Gly) | |
14 | g.24259102A>G | CA389263720 | TGM1 | c.1132T>C (p.Trp378Arg) c.-28-714T>C (n.-28-714T>C) c.205T>C (p.Trp69Arg) | |
14 | g.24259102A>T | CA389263721 | TGM1 | c.1132T>A (p.Trp378Arg) c.-28-714T>A (n.-28-714T>A) c.205T>A (p.Trp69Arg) | |
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.24259103G>A | CA485663832 | TGM1 | c.1131C>T (p.Cys377=) c.-28-715C>T (n.-28-715C>T) c.204C>T (p.Cys68=) | |
14 | g.24259103G>C | CA389263724 | TGM1 | c.1131C>G (p.Cys377Trp) c.-28-715C>G (n.-28-715C>G) c.204C>G (p.Cys68Trp) | gnomAD v4 |
14 | g.24259103G>T | CA389263729 | TGM1 | c.1131C>A (p.Cys377Ter) c.-28-715C>A (n.-28-715C>A) c.204C>A (p.Cys68Ter) | |
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.24259104C>A | CA389263746 | TGM1 | c.1130G>T (p.Cys377Phe) c.-28-716G>T (n.-28-716G>T) c.203G>T (p.Cys68Phe) | gnomAD v4 |
14 | g.24259104C>G | CA389263754 | TGM1 | c.1130G>C (p.Cys377Ser) c.-28-716G>C (n.-28-716G>C) c.203G>C (p.Cys68Ser) | |
14 | g.24259104C>T | CA389263761 | TGM1 | c.1130G>A (p.Cys377Tyr) c.-28-716G>A (n.-28-716G>A) c.203G>A (p.Cys68Tyr) | gnomAD v4 |
14 | g.24259105del | CA2580087977 | TGM1 | c.1129del (p.Cys377AlafsTer7) c.-28-717del (n.-28-717del) c.202del (p.Cys68AlafsTer7) | ClinVar |
14 | g.24259105A>C | CA389263786 | TGM1 | c.1129T>G (p.Cys377Gly) c.-28-717T>G (n.-28-717T>G) c.202T>G (p.Cys68Gly) | |
14 | g.24259105A>G | CA389263800 | TGM1 | c.1129T>C (p.Cys377Arg) c.-28-717T>C (n.-28-717T>C) c.202T>C (p.Cys68Arg) | |
14 | g.24259105A>T | CA389263776 | TGM1 | c.1129T>A (p.Cys377Ser) c.-28-717T>A (n.-28-717T>A) c.202T>A (p.Cys68Ser) | |
14 | g.24259106C>A | CA389263821 | TGM1 | c.1128G>T (p.Gln376His) c.-28-718G>T (n.-28-718G>T) c.201G>T (p.Gln67His) | |
14 | g.24259106C= | CA2123854569 | TGM1 | c.1128G= (p.Gln376=) c.-28-718G= (n.-28-718G=) c.201G= (p.Gln67=) | |
14 | g.24259106C>G | CA389263809 | TGM1 | c.1128G>C (p.Gln376His) c.-28-718G>C (n.-28-718G>C) c.201G>C (p.Gln67His) | |
14 | g.24259106C>T | CA7131187 | TGM1 | c.1128G>A (p.Gln376=) c.-28-718G>A (n.-28-718G>A) c.201G>A (p.Gln67=) | dbSNP ExAC 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) |