Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.24258244G>A | CA704350891 | TGM1 | c.1402+41C>T (n.1402+41C>T) c.76+41C>T (n.76+41C>T) c.475+41C>T (n.475+41C>T) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.24258244G= | CA2123836261 | TGM1 | c.1402+41C= (n.1402+41C=) c.76+41C= (n.76+41C=) c.475+41C= (n.475+41C=) | |
14 | g.24258244G>T | CA2575493892 | TGM1 | c.1402+41C>A (n.1402+41C>A) c.76+41C>A (n.76+41C>A) c.475+41C>A (n.475+41C>A) | |
14 | g.24258245A= | CA2123836265 | TGM1 | c.1402+40T= (n.1402+40T=) c.76+40T= (n.76+40T=) c.475+40T= (n.475+40T=) | |
14 | g.24258245A>C | CA961133376 | TGM1 | c.1402+40T>G (n.1402+40T>G) c.76+40T>G (n.76+40T>G) c.475+40T>G (n.475+40T>G) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.24258246T>C | CA2624345935 | TGM1 | c.1402+39A>G (n.1402+39A>G) c.76+39A>G (n.76+39A>G) c.475+39A>G (n.475+39A>G) | gnomAD v4 |
14 | g.24258249G= | CA2123836267 | TGM1 | c.1402+36C= (n.1402+36C=) c.76+36C= (n.76+36C=) c.475+36C= (n.475+36C=) | |
14 | g.24258249G>T | CA2123836269 | TGM1 | c.1402+36C>A (n.1402+36C>A) c.76+36C>A (n.76+36C>A) c.475+36C>A (n.475+36C>A) | dbSNP gnomAD v4 |
14 | g.24258250C= | CA2123836271 | TGM1 | c.1402+35G= (n.1402+35G=) c.76+35G= (n.76+35G=) c.475+35G= (n.475+35G=) | |
14 | g.24258250C>G | CA7131098 | TGM1 | c.1402+35G>C (n.1402+35G>C) c.76+35G>C (n.76+35G>C) c.475+35G>C (n.475+35G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.24258250C>T | CA2123836273 | TGM1 | c.1402+35G>A (n.1402+35G>A) c.76+35G>A (n.76+35G>A) c.475+35G>A (n.475+35G>A) | dbSNP |
14 | g.24258251A= | CA2123836277 | TGM1 | c.1402+34T= (n.1402+34T=) c.76+34T= (n.76+34T=) c.475+34T= (n.475+34T=) | |
14 | g.24258251A>T | CA2123836274 | TGM1 | c.1402+34T>A (n.1402+34T>A) c.76+34T>A (n.76+34T>A) c.475+34T>A (n.475+34T>A) | dbSNP gnomAD v4 |
14 | g.24258252G>A | CA257897593 | TGM1 | c.1402+33C>T (n.1402+33C>T) c.76+33C>T (n.76+33C>T) c.475+33C>T (n.475+33C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24258252G= | CA2123836278 | TGM1 | c.1402+33C= (n.1402+33C=) c.76+33C= (n.76+33C=) c.475+33C= (n.475+33C=) | |
14 | g.24258252G>T | CA2575493893 | TGM1 | c.1402+33C>A (n.1402+33C>A) c.76+33C>A (n.76+33C>A) c.475+33C>A (n.475+33C>A) | |
14 | g.24258253G>A | CA2800897320 | TGM1 | c.1402+32C>T (n.1402+32C>T) c.76+32C>T (n.76+32C>T) c.475+32C>T (n.475+32C>T) | |
14 | g.24258254G>C | CA2123836289 | TGM1 | c.1402+31C>G (n.1402+31C>G) c.76+31C>G (n.76+31C>G) c.475+31C>G (n.475+31C>G) | dbSNP gnomAD v4 |
14 | g.24258254G= | CA2123836281 | TGM1 | c.1402+31C= (n.1402+31C=) c.76+31C= (n.76+31C=) c.475+31C= (n.475+31C=) | |
14 | g.24258254G>T | CA2624345936 | TGM1 | c.1402+31C>A (n.1402+31C>A) c.76+31C>A (n.76+31C>A) c.475+31C>A (n.475+31C>A) | gnomAD v4 |
14 | g.24258255G>C | CA2624345937 | TGM1 | c.1402+30C>G (n.1402+30C>G) c.76+30C>G (n.76+30C>G) c.475+30C>G (n.475+30C>G) | gnomAD v4 |
14 | g.24258255G= | CA2123836292 | TGM1 | c.1402+30C= (n.1402+30C=) c.76+30C= (n.76+30C=) c.475+30C= (n.475+30C=) | |
14 | g.24258255G>T | CA613320754 | TGM1 | c.1402+30C>A (n.1402+30C>A) c.76+30C>A (n.76+30C>A) c.475+30C>A (n.475+30C>A) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24258256C= | CA2123836295 | TGM1 | c.1402+29G= (n.1402+29G=) c.76+29G= (n.76+29G=) c.475+29G= (n.475+29G=) | |
14 | g.24258256C>T | CA2123836296 | TGM1 | c.1402+29G>A (n.1402+29G>A) c.76+29G>A (n.76+29G>A) c.475+29G>A (n.475+29G>A) | dbSNP gnomAD v4 |
14 | g.24258257A>G | CA2624345938 | TGM1 | c.1402+28T>C (n.1402+28T>C) c.76+28T>C (n.76+28T>C) c.475+28T>C (n.475+28T>C) | gnomAD v4 |
14 | g.24258257A>T | CA2624345939 | TGM1 | c.1402+28T>A (n.1402+28T>A) c.76+28T>A (n.76+28T>A) c.475+28T>A (n.475+28T>A) | gnomAD v4 |
14 | g.24258258T>A | CA7131099 | TGM1 | c.1402+27A>T (n.1402+27A>T) c.76+27A>T (n.76+27A>T) c.475+27A>T (n.475+27A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24258258T= | CA2123836300 | TGM1 | c.1402+27A= (n.1402+27A=) c.76+27A= (n.76+27A=) c.475+27A= (n.475+27A=) | |
14 | g.24258259G>A | CA2624345940 | TGM1 | c.1402+26C>T (n.1402+26C>T) c.76+26C>T (n.76+26C>T) c.475+26C>T (n.475+26C>T) | gnomAD v4 |
14 | g.24258259G>T | CA2624345941 | TGM1 | c.1402+26C>A (n.1402+26C>A) c.76+26C>A (n.76+26C>A) c.475+26C>A (n.475+26C>A) | gnomAD v4 |
14 | g.24258260G>A | CA613320755 | TGM1 | c.1402+25C>T (n.1402+25C>T) c.76+25C>T (n.76+25C>T) c.475+25C>T (n.475+25C>T) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24258260G>C | CA2123836305 | TGM1 | c.1402+25C>G (n.1402+25C>G) c.76+25C>G (n.76+25C>G) c.475+25C>G (n.475+25C>G) | dbSNP |
14 | g.24258260G= | CA2123836303 | TGM1 | c.1402+25C= (n.1402+25C=) c.76+25C= (n.76+25C=) c.475+25C= (n.475+25C=) | |
14 | g.24258260G>T | CA961133377 | TGM1 | c.1402+25C>A (n.1402+25C>A) c.76+25C>A (n.76+25C>A) c.475+25C>A (n.475+25C>A) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.24258261T>G | CA613320756 | TGM1 | c.1402+24A>C (n.1402+24A>C) c.76+24A>C (n.76+24A>C) c.475+24A>C (n.475+24A>C) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24258261T= | CA2123836310 | TGM1 | c.1402+24A= (n.1402+24A=) c.76+24A= (n.76+24A=) c.475+24A= (n.475+24A=) | |
14 | g.24258262G>A | CA7131100 | TGM1 | c.1402+23C>T (n.1402+23C>T) c.76+23C>T (n.76+23C>T) c.475+23C>T (n.475+23C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.24258262G= | CA2123836312 | TGM1 | c.1402+23C= (n.1402+23C=) c.76+23C= (n.76+23C=) c.475+23C= (n.475+23C=) | |
14 | g.24258262G>T | CA2529133942 | TGM1 | c.1402+23C>A (n.1402+23C>A) c.76+23C>A (n.76+23C>A) c.475+23C>A (n.475+23C>A) | |
14 | g.24258265del | CA2575493894 | TGM1 | c.1402+23del (n.1402+23del) c.76+23del (n.76+23del) c.475+23del (n.475+23del) | gnomAD v4 |
14 | g.24258263G>C | CA2624345942 | TGM1 | c.1402+22C>G (n.1402+22C>G) c.76+22C>G (n.76+22C>G) c.475+22C>G (n.475+22C>G) | gnomAD v4 |
14 | g.24258264G>T | CA2624345943 | TGM1 | c.1402+21C>A (n.1402+21C>A) c.76+21C>A (n.76+21C>A) c.475+21C>A (n.475+21C>A) | gnomAD v4 |
14 | g.24258265G>T | CA2524802152 | TGM1 | c.1402+20C>A (n.1402+20C>A) c.76+20C>A (n.76+20C>A) c.475+20C>A (n.475+20C>A) | gnomAD v4 |
14 | g.24258266A= | CA2123836318 | TGM1 | c.1402+19T= (n.1402+19T=) c.76+19T= (n.76+19T=) c.475+19T= (n.475+19T=) | |
14 | g.24258266A>G | CA613320757 | TGM1 | c.1402+19T>C (n.1402+19T>C) c.76+19T>C (n.76+19T>C) c.475+19T>C (n.475+19T>C) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24258266A>T | CA2575493895 | TGM1 | c.1402+19T>A (n.1402+19T>A) c.76+19T>A (n.76+19T>A) c.475+19T>A (n.475+19T>A) | gnomAD v4 |
14 | g.24258267G>T | CA2624345944 | TGM1 | c.1402+18C>A (n.1402+18C>A) c.76+18C>A (n.76+18C>A) c.475+18C>A (n.475+18C>A) | gnomAD v4 |
14 | g.24258268T>A | CA7131101 | TGM1 | c.1402+17A>T (n.1402+17A>T) c.76+17A>T (n.76+17A>T) c.475+17A>T (n.475+17A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.24258268T>G | CA704350905 | TGM1 | c.1402+17A>C (n.1402+17A>C) c.76+17A>C (n.76+17A>C) c.475+17A>C (n.475+17A>C) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.24258268T= | CA2123836321 | TGM1 | c.1402+17A= (n.1402+17A=) c.76+17A= (n.76+17A=) c.475+17A= (n.475+17A=) | |
14 | g.24258269G>A | CA7131102 | TGM1 | c.1402+16C>T (n.1402+16C>T) c.76+16C>T (n.76+16C>T) c.475+16C>T (n.475+16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24258269G>C | CA2123836327 | TGM1 | c.1402+16C>G (n.1402+16C>G) c.76+16C>G (n.76+16C>G) c.475+16C>G (n.475+16C>G) | ClinVar dbSNP |
14 | g.24258269G= | CA2123836326 | TGM1 | c.1402+16C= (n.1402+16C=) c.76+16C= (n.76+16C=) c.475+16C= (n.475+16C=) | |
14 | g.24258269G>T | CA2123836329 | TGM1 | c.1402+16C>A (n.1402+16C>A) c.76+16C>A (n.76+16C>A) c.475+16C>A (n.475+16C>A) | dbSNP gnomAD v4 |
14 | g.24258274dup | CA613320758 | TGM1 | c.1402+16dup (n.1402+16dup) c.76+16dup (n.76+16dup) c.475+16dup (n.475+16dup) | gnomAD v2 gnomAD v4 |
14 | g.24258274del | CA2575493896 | TGM1 | c.1402+16del (n.1402+16del) c.76+16del (n.76+16del) c.475+16del (n.475+16del) | ClinVar gnomAD v4 |
14 | g.24258270G>T | CA2575493897 | TGM1 | c.1402+15C>A (n.1402+15C>A) c.76+15C>A (n.76+15C>A) c.475+15C>A (n.475+15C>A) | gnomAD v4 |
14 | g.24258271G>A | CA2503564434 | TGM1 | c.1402+14C>T (n.1402+14C>T) c.76+14C>T (n.76+14C>T) c.475+14C>T (n.475+14C>T) | |
14 | g.24258271G>C | CA2624345945 | TGM1 | c.1402+14C>G (n.1402+14C>G) c.76+14C>G (n.76+14C>G) c.475+14C>G (n.475+14C>G) | gnomAD v4 |
14 | g.24258272G>A | CA2123836332 | TGM1 | c.1402+13C>T (n.1402+13C>T) c.76+13C>T (n.76+13C>T) c.475+13C>T (n.475+13C>T) | dbSNP gnomAD v4 |
14 | g.24258272G>C | CA2739277835 | TGM1 | c.1402+13C>G (n.1402+13C>G) c.76+13C>G (n.76+13C>G) c.475+13C>G (n.475+13C>G) | ClinVar |
14 | g.24258272G= | CA2123836331 | TGM1 | c.1402+13C= (n.1402+13C=) c.76+13C= (n.76+13C=) c.475+13C= (n.475+13C=) | |
14 | g.24258273G>A | CA2624345946 | TGM1 | c.1402+12C>T (n.1402+12C>T) c.76+12C>T (n.76+12C>T) c.475+12C>T (n.475+12C>T) | ClinVar gnomAD v4 |
14 | g.24258273G>T | CA2575493898 | TGM1 | c.1402+12C>A (n.1402+12C>A) c.76+12C>A (n.76+12C>A) c.475+12C>A (n.475+12C>A) | gnomAD v4 |
14 | g.24258274G>A | CA613320759 | TGM1 | c.1402+11C>T (n.1402+11C>T) c.76+11C>T (n.76+11C>T) c.475+11C>T (n.475+11C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.24258274G>C | CA2740097726 | TGM1 | c.1402+11C>G (n.1402+11C>G) c.76+11C>G (n.76+11C>G) c.475+11C>G (n.475+11C>G) | ClinVar |
14 | g.24258274G= | CA2123836335 | TGM1 | c.1402+11C= (n.1402+11C=) c.76+11C= (n.76+11C=) c.475+11C= (n.475+11C=) | |
14 | g.24258274G>T | CA7131103 | TGM1 | c.1402+11C>A (n.1402+11C>A) c.76+11C>A (n.76+11C>A) c.475+11C>A (n.475+11C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24258275C>A | CA704350910 | TGM1 | c.1402+10G>T (n.1402+10G>T) c.76+10G>T (n.76+10G>T) c.475+10G>T (n.475+10G>T) | dbSNP gnomAD v4 |
14 | g.24258275C= | CA2123836345 | TGM1 | c.1402+10G= (n.1402+10G=) c.76+10G= (n.76+10G=) c.475+10G= (n.475+10G=) | |
14 | g.24258276C>T | CA2575493899 | TGM1 | c.1402+9G>A (n.1402+9G>A) c.76+9G>A (n.76+9G>A) c.475+9G>A (n.475+9G>A) | ClinVar |
14 | g.24258280C>T | CA2624345947 | TGM1 | c.1402+5G>A (n.1402+5G>A) c.76+5G>A (n.76+5G>A) c.475+5G>A (n.475+5G>A) | gnomAD v4 |
14 | g.24258282del | CA2546837765 | TGM1 | c.1402+4del (n.1402+4del) c.76+4del (n.76+4del) c.475+4del (n.475+4del) | |
14 | g.24258283A= | CA2123836356 | TGM1 | c.1402+2T= (n.1402+2T=) c.76+2T= (n.76+2T=) c.475+2T= (n.475+2T=) | |
14 | g.24258283A>C | CA389258748 | TGM1 | c.1402+2T>G (n.1402+2T>G) c.76+2T>G (n.76+2T>G) c.475+2T>G (n.475+2T>G) | |
14 | g.24258283A>G | CA257897603 | TGM1 | c.1402+2T>C (n.1402+2T>C) c.76+2T>C (n.76+2T>C) c.475+2T>C (n.475+2T>C) | dbSNP gnomAD v4 |
14 | g.24258283A>T | CA257897602 | TGM1 | c.1402+2T>A (n.1402+2T>A) c.76+2T>A (n.76+2T>A) c.475+2T>A (n.475+2T>A) | dbSNP |
14 | g.24258284C>A | CA389258782 | TGM1 | c.1402+1G>T (n.1402+1G>T) c.76+1G>T (n.76+1G>T) c.475+1G>T (n.475+1G>T) | |
14 | g.24258284C= | CA2123836362 | TGM1 | c.1402+1G= (n.1402+1G=) c.76+1G= (n.76+1G=) c.475+1G= (n.475+1G=) | |
14 | g.24258284C>G | CA389258789 | TGM1 | c.1402+1G>C (n.1402+1G>C) c.76+1G>C (n.76+1G>C) c.475+1G>C (n.475+1G>C) | |
14 | g.24258284C>T | CA389258784 | TGM1 | c.1402+1G>A (n.1402+1G>A) c.76+1G>A (n.76+1G>A) c.475+1G>A (n.475+1G>A) | ClinVar |
14 | g.24258285C>A | CA389258793 | TGM1 | c.1402G>T (p.Gly468Cys) c.76G>T (p.Gly26Cys) c.475G>T (p.Gly159Cys) | |
14 | g.24258285C= | CA2123836369 | TGM1 | c.1402G= (p.Gly468=) c.76G= (p.Gly26=) c.475G= (p.Gly159=) | |
14 | g.24258285C>G | CA389258794 | TGM1 | c.1402G>C (p.Gly468Arg) c.76G>C (p.Gly26Arg) c.475G>C (p.Gly159Arg) | |
14 | g.24258285C>T | CA389258796 | TGM1 | c.1402G>A (p.Gly468Ser) c.76G>A (p.Gly26Ser) c.475G>A (p.Gly159Ser) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24258286A= | CA2123836376 | TGM1 | c.1401T= (p.Ser467=) c.75T= (p.Ser25=) c.474T= (p.Ser158=) | |
14 | g.24258286A>C | CA389258831 | TGM1 | c.1401T>G (p.Ser467Arg) c.75T>G (p.Ser25Arg) c.474T>G (p.Ser158Arg) | |
14 | g.24258286A>G | CA485783051 | TGM1 | c.1401T>C (p.Ser467=) c.75T>C (p.Ser25=) c.474T>C (p.Ser158=) | dbSNP |
14 | g.24258286A>T | CA389258840 | TGM1 | c.1401T>A (p.Ser467Arg) c.75T>A (p.Ser25Arg) c.474T>A (p.Ser158Arg) | |
14 | g.24258286dup | CA7131104 | TGM1 | c.1401dup (p.Gly468TrpfsTer30) c.75dup (p.Gly26TrpfsTer30) c.474dup (p.Gly159TrpfsTer30) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.24258287C>A | CA389258848 | TGM1 | c.1400G>T (p.Ser467Ile) c.74G>T (p.Ser25Ile) c.473G>T (p.Ser158Ile) | |
14 | g.24258287C>G | CA389258855 | TGM1 | c.1400G>C (p.Ser467Thr) c.74G>C (p.Ser25Thr) c.473G>C (p.Ser158Thr) | |
14 | g.24258287C>T | CA389258856 | TGM1 | c.1400G>A (p.Ser467Asn) c.74G>A (p.Ser25Asn) c.473G>A (p.Ser158Asn) | gnomAD v4 |
14 | g.24258288T>A | CA389258859 | TGM1 | c.1399A>T (p.Ser467Cys) c.73A>T (p.Ser25Cys) c.472A>T (p.Ser158Cys) | COSMIC |
14 | g.24258288T>C | CA389258865 | TGM1 | c.1399A>G (p.Ser467Gly) c.73A>G (p.Ser25Gly) c.472A>G (p.Ser158Gly) | |
14 | g.24258288T>G | CA389258879 | TGM1 | c.1399A>C (p.Ser467Arg) c.73A>C (p.Ser25Arg) c.472A>C (p.Ser158Arg) | |
14 | g.24258289G>A | CA485783055 | TGM1 | c.1398C>T (p.Ser466=) c.72C>T (p.Ser24=) c.471C>T (p.Ser157=) | dbSNP |
14 | g.24258289G>C | CA389258884 | TGM1 | c.1398C>G (p.Ser466Arg) c.72C>G (p.Ser24Arg) c.471C>G (p.Ser157Arg) | |
14 | g.24258289G= | CA2123836382 | TGM1 | c.1398C= (p.Ser466=) c.72C= (p.Ser24=) c.471C= (p.Ser157=) | |
14 | g.24258289G>T | CA389258885 | TGM1 | c.1398C>A (p.Ser466Arg) c.72C>A (p.Ser24Arg) c.471C>A (p.Ser157Arg) | gnomAD v4 |
14 | g.24258290C>A | CA389258888 | TGM1 | c.1397G>T (p.Ser466Ile) c.71G>T (p.Ser24Ile) c.470G>T (p.Ser157Ile) | |
14 | g.24258290C>G | CA389258889 | TGM1 | c.1397G>C (p.Ser466Thr) c.71G>C (p.Ser24Thr) c.470G>C (p.Ser157Thr) | |
14 | g.24258290C>T | CA389258900 | TGM1 | c.1397G>A (p.Ser466Asn) c.71G>A (p.Ser24Asn) c.470G>A (p.Ser157Asn) | |
14 | g.24258291T>A | CA389258903 | TGM1 | c.1396A>T (p.Ser466Cys) c.70A>T (p.Ser24Cys) c.469A>T (p.Ser157Cys) | |
14 | g.24258291T>C | CA389258904 | TGM1 | c.1396A>G (p.Ser466Gly) c.70A>G (p.Ser24Gly) c.469A>G (p.Ser157Gly) | |
14 | g.24258291T>G | CA389258906 | TGM1 | c.1396A>C (p.Ser466Arg) c.70A>C (p.Ser24Arg) c.469A>C (p.Ser157Arg) | |
14 | g.24258292A>C | CA485783062 | TGM1 | c.1395T>G (p.Thr465=) c.69T>G (p.Thr23=) c.468T>G (p.Thr156=) | |
14 | g.24258292A>G | CA485783063 | TGM1 | c.1395T>C (p.Thr465=) c.69T>C (p.Thr23=) c.468T>C (p.Thr156=) | |
14 | g.24258292A>T | CA485783064 | TGM1 | c.1395T>A (p.Thr465=) c.69T>A (p.Thr23=) c.468T>A (p.Thr156=) | |
14 | g.24258293G>A | CA7131105 | TGM1 | c.1394C>T (p.Thr465Ile) c.68C>T (p.Thr23Ile) c.467C>T (p.Thr156Ile) | dbSNP ExAC gnomAD v2 COSMIC |
14 | g.24258293G>C | CA389258910 | TGM1 | c.1394C>G (p.Thr465Ser) c.68C>G (p.Thr23Ser) c.467C>G (p.Thr156Ser) | |
14 | g.24258293G= | CA2123836386 | TGM1 | c.1394C= (p.Thr465=) c.68C= (p.Thr23=) c.467C= (p.Thr156=) | |
14 | g.24258293G>T | CA389258917 | TGM1 | c.1394C>A (p.Thr465Asn) c.68C>A (p.Thr23Asn) c.467C>A (p.Thr156Asn) | |
14 | g.24258294T>A | CA389258924 | TGM1 | c.1393A>T (p.Thr465Ser) c.67A>T (p.Thr23Ser) c.466A>T (p.Thr156Ser) | |
14 | g.24258294T>C | CA389258925 | TGM1 | c.1393A>G (p.Thr465Ala) c.67A>G (p.Thr23Ala) c.466A>G (p.Thr156Ala) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.24258294T>G | CA389258926 | TGM1 | c.1393A>C (p.Thr465Pro) c.67A>C (p.Thr23Pro) c.466A>C (p.Thr156Pro) | |
14 | g.24258294T= | CA2123836393 | TGM1 | c.1393A= (p.Thr465=) c.67A= (p.Thr23=) c.466A= (p.Thr156=) | |
14 | g.24258295C>A | CA389258928 | TGM1 | c.1392G>T (p.Glu464Asp) c.66G>T (p.Glu22Asp) c.465G>T (p.Glu155Asp) | |
14 | g.24258295C>G | CA389258929 | TGM1 | c.1392G>C (p.Glu464Asp) c.66G>C (p.Glu22Asp) c.465G>C (p.Glu155Asp) | |
14 | g.24258295C>T | CA485783070 | TGM1 | c.1392G>A (p.Glu464=) c.66G>A (p.Glu22=) c.465G>A (p.Glu155=) | ClinVar dbSNP |
14 | g.24258296T>A | CA389258934 | TGM1 | c.1391A>T (p.Glu464Val) c.65A>T (p.Glu22Val) c.464A>T (p.Glu155Val) | |
14 | g.24258296T>C | CA389258967 | TGM1 | c.1391A>G (p.Glu464Gly) c.65A>G (p.Glu22Gly) c.464A>G (p.Glu155Gly) | |
14 | g.24258296T>G | CA389258949 | TGM1 | c.1391A>C (p.Glu464Ala) c.65A>C (p.Glu22Ala) c.464A>C (p.Glu155Ala) | |
14 | g.24258297C>A | CA389258972 | TGM1 | c.1390G>T (p.Glu464Ter) c.64G>T (p.Glu22Ter) c.463G>T (p.Glu155Ter) | |
14 | g.24258297C= | CA2123836400 | TGM1 | c.1390G= (p.Glu464=) c.64G= (p.Glu22=) c.463G= (p.Glu155=) | |
14 | g.24258297C>G | CA389258974 | TGM1 | c.1390G>C (p.Glu464Gln) c.64G>C (p.Glu22Gln) c.463G>C (p.Glu155Gln) | |
14 | g.24258297C>T | CA7131106 | TGM1 | c.1390G>A (p.Glu464Lys) c.64G>A (p.Glu22Lys) c.463G>A (p.Glu155Lys) | dbSNP ExAC gnomAD v2 |
14 | g.24258298T>A | CA389258989 | TGM1 | c.1389A>T (p.Gln463His) c.63A>T (p.Gln21His) c.462A>T (p.Gln154His) | |
14 | g.24258298T>C | CA485783074 | TGM1 | c.1389A>G (p.Gln463=) c.63A>G (p.Gln21=) c.462A>G (p.Gln154=) | |
14 | g.24258298T>G | CA389259017 | TGM1 | c.1389A>C (p.Gln463His) c.63A>C (p.Gln21His) c.462A>C (p.Gln154His) | |
14 | g.24258299T>A | CA389259023 | TGM1 | c.1388A>T (p.Gln463Leu) c.62A>T (p.Gln21Leu) c.461A>T (p.Gln154Leu) | |
14 | g.24258299T>C | CA389259033 | TGM1 | c.1388A>G (p.Gln463Arg) c.62A>G (p.Gln21Arg) c.461A>G (p.Gln154Arg) | gnomAD v4 |
14 | g.24258299T>G | CA389259042 | TGM1 | c.1388A>C (p.Gln463Pro) c.62A>C (p.Gln21Pro) c.461A>C (p.Gln154Pro) | |
14 | g.24258300G>A | CA389259048 | TGM1 | c.1387C>T (p.Gln463Ter) c.61C>T (p.Gln21Ter) c.460C>T (p.Gln154Ter) | |
14 | g.24258300G>C | CA389259053 | TGM1 | c.1387C>G (p.Gln463Glu) c.61C>G (p.Gln21Glu) c.460C>G (p.Gln154Glu) | |
14 | g.24258300G>T | CA389259061 | TGM1 | c.1387C>A (p.Gln463Lys) c.61C>A (p.Gln21Lys) c.460C>A (p.Gln154Lys) | |
14 | g.24258301G>A | CA485783078 | TGM1 | c.1386C>T (p.Pro462=) c.60C>T (p.Pro20=) c.459C>T (p.Pro153=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.24258301G>C | CA485783079 | TGM1 | c.1386C>G (p.Pro462=) c.60C>G (p.Pro20=) c.459C>G (p.Pro153=) | |
14 | g.24258301G= | CA2123836404 | TGM1 | c.1386C= (p.Pro462=) c.60C= (p.Pro20=) c.459C= (p.Pro153=) | |
14 | g.24258301G>T | CA485783080 | TGM1 | c.1386C>A (p.Pro462=) c.60C>A (p.Pro20=) c.459C>A (p.Pro153=) | |
14 | g.24258302G>A | CA389259067 | TGM1 | c.1385C>T (p.Pro462Leu) c.59C>T (p.Pro20Leu) c.458C>T (p.Pro153Leu) | gnomAD v4 |
14 | g.24258302G>C | CA389259073 | TGM1 | c.1385C>G (p.Pro462Arg) c.59C>G (p.Pro20Arg) c.458C>G (p.Pro153Arg) | |
14 | g.24258302G= | CA2123836407 | TGM1 | c.1385C= (p.Pro462=) c.59C= (p.Pro20=) c.458C= (p.Pro153=) | |
14 | g.24258302G>T | CA389259069 | TGM1 | c.1385C>A (p.Pro462His) c.59C>A (p.Pro20His) c.458C>A (p.Pro153His) | dbSNP |
14 | g.24258303G>A | CA389259081 | TGM1 | c.1384C>T (p.Pro462Ser) c.58C>T (p.Pro20Ser) c.457C>T (p.Pro153Ser) | |
14 | g.24258303G>C | CA389259109 | TGM1 | c.1384C>G (p.Pro462Ala) c.58C>G (p.Pro20Ala) c.457C>G (p.Pro153Ala) | |
14 | g.24258303G>T | CA389259088 | TGM1 | c.1384C>A (p.Pro462Thr) c.58C>A (p.Pro20Thr) c.457C>A (p.Pro153Thr) | |
14 | g.24258304T>A | CA485783083 | TGM1 | c.1383A>T (p.Thr461=) c.57A>T (p.Thr19=) c.456A>T (p.Thr152=) | |
14 | g.24258304T>C | CA485783084 | TGM1 | c.1383A>G (p.Thr461=) c.57A>G (p.Thr19=) c.456A>G (p.Thr152=) | ClinVar dbSNP |
14 | g.24258304T>G | CA485783085 | TGM1 | c.1383A>C (p.Thr461=) c.57A>C (p.Thr19=) c.456A>C (p.Thr152=) | dbSNP |
14 | g.24258304T= | CA2123836413 | TGM1 | c.1383A= (p.Thr461=) c.57A= (p.Thr19=) c.456A= (p.Thr152=) | |
14 | g.24258305G>A | CA389259128 | TGM1 | c.1382C>T (p.Thr461Ile) c.56C>T (p.Thr19Ile) c.455C>T (p.Thr152Ile) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24258305G>C | CA389259138 | TGM1 | c.1382C>G (p.Thr461Arg) c.56C>G (p.Thr19Arg) c.455C>G (p.Thr152Arg) | |
14 | g.24258305G= | CA2123836420 | TGM1 | c.1382C= (p.Thr461=) c.56C= (p.Thr19=) c.455C= (p.Thr152=) | |
14 | g.24258305G>T | CA389259134 | TGM1 | c.1382C>A (p.Thr461Lys) c.56C>A (p.Thr19Lys) c.455C>A (p.Thr152Lys) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24258306T>A | CA389259144 | TGM1 | c.1381A>T (p.Thr461Ser) c.55A>T (p.Thr19Ser) c.454A>T (p.Thr152Ser) | |
14 | g.24258306T>C | CA389259146 | TGM1 | c.1381A>G (p.Thr461Ala) c.55A>G (p.Thr19Ala) c.454A>G (p.Thr152Ala) | |
14 | g.24258306T>G | CA389259151 | TGM1 | c.1381A>C (p.Thr461Pro) c.55A>C (p.Thr19Pro) c.454A>C (p.Thr152Pro) | |
14 | g.24258307G>A | CA485783090 | TGM1 | c.1380C>T (p.Ala460=) c.54C>T (p.Ala18=) c.453C>T (p.Ala151=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
14 | g.24258307G>C | CA485783091 | TGM1 | c.1380C>G (p.Ala460=) c.54C>G (p.Ala18=) c.453C>G (p.Ala151=) | |
14 | g.24258307G= | CA2123836427 | TGM1 | c.1380C= (p.Ala460=) c.54C= (p.Ala18=) c.453C= (p.Ala151=) | |
14 | g.24258307G>T | CA485783093 | TGM1 | c.1380C>A (p.Ala460=) c.54C>A (p.Ala18=) c.453C>A (p.Ala151=) | dbSNP |
14 | g.24258308G>A | CA389259154 | TGM1 | c.1379C>T (p.Ala460Val) c.53C>T (p.Ala18Val) c.452C>T (p.Ala151Val) | |
14 | g.24258308G>C | CA389259165 | TGM1 | c.1379C>G (p.Ala460Gly) c.53C>G (p.Ala18Gly) c.452C>G (p.Ala151Gly) | |
14 | g.24258308G>T | CA389259168 | TGM1 | c.1379C>A (p.Ala460Asp) c.53C>A (p.Ala18Asp) c.452C>A (p.Ala151Asp) | |
14 | g.24258309C>A | CA389259171 | TGM1 | c.1378G>T (p.Ala460Ser) c.52G>T (p.Ala18Ser) c.451G>T (p.Ala151Ser) | |
14 | g.24258309C= | CA2123836433 | TGM1 | c.1378G= (p.Ala460=) c.52G= (p.Ala18=) c.451G= (p.Ala151=) | |
14 | g.24258309C>G | CA389259176 | TGM1 | c.1378G>C (p.Ala460Pro) c.52G>C (p.Ala18Pro) c.451G>C (p.Ala151Pro) | |
14 | g.24258309C>T | CA389259178 | TGM1 | c.1378G>A (p.Ala460Thr) c.52G>A (p.Ala18Thr) c.451G>A (p.Ala151Thr) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24258310A>C | CA389259188 | TGM1 | c.1377T>G (p.Asp459Glu) c.51T>G (p.Asp17Glu) c.450T>G (p.Asp150Glu) | |
14 | g.24258310A>G | CA485783096 | TGM1 | c.1377T>C (p.Asp459=) c.51T>C (p.Asp17=) c.450T>C (p.Asp150=) | |
14 | g.24258310A>T | CA389259202 | TGM1 | c.1377T>A (p.Asp459Glu) c.51T>A (p.Asp17Glu) c.450T>A (p.Asp150Glu) | |
14 | g.24258311T>A | CA389259222 | TGM1 | c.1376A>T (p.Asp459Val) c.50A>T (p.Asp17Val) c.449A>T (p.Asp150Val) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.24258311T>C | CA389259214 | TGM1 | c.1376A>G (p.Asp459Gly) c.50A>G (p.Asp17Gly) c.449A>G (p.Asp150Gly) | gnomAD v4 |
14 | g.24258311T>G | CA389259216 | TGM1 | c.1376A>C (p.Asp459Ala) c.50A>C (p.Asp17Ala) c.449A>C (p.Asp150Ala) | |
14 | g.24258311T= | CA2123836440 | TGM1 | c.1376A= (p.Asp459=) c.50A= (p.Asp17=) c.449A= (p.Asp150=) | |
14 | g.24258312C>A | CA389259230 | TGM1 | c.1375G>T (p.Asp459Tyr) c.49G>T (p.Asp17Tyr) c.448G>T (p.Asp150Tyr) | |
14 | g.24258312C>G | CA389259235 | TGM1 | c.1375G>C (p.Asp459His) c.49G>C (p.Asp17His) c.448G>C (p.Asp150His) | |
14 | g.24258312C>T | CA389259240 | TGM1 | c.1375G>A (p.Asp459Asn) c.49G>A (p.Asp17Asn) c.448G>A (p.Asp150Asn) | |
14 | g.24258313C>A | CA485783100 | TGM1 | c.1374G>T (p.Val458=) c.48G>T (p.Val16=) c.447G>T (p.Val149=) | |
14 | g.24258313C= | CA2123836444 | TGM1 | c.1374G= (p.Val458=) c.48G= (p.Val16=) c.447G= (p.Val149=) | |
14 | g.24258313C>G | CA485783102 | TGM1 | c.1374G>C (p.Val458=) c.48G>C (p.Val16=) c.447G>C (p.Val149=) | |
14 | g.24258313C>T | CA257897626 | TGM1 | c.1374G>A (p.Val458=) c.48G>A (p.Val16=) c.447G>A (p.Val149=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.24258314A= | CA2123836472 | TGM1 | c.1373T= (p.Val458=) c.47T= (p.Val16=) c.446T= (p.Val149=) | |
14 | g.24258314A>C | CA389259275 | TGM1 | c.1373T>G (p.Val458Gly) c.47T>G (p.Val16Gly) c.446T>G (p.Val149Gly) | dbSNP |
14 | g.24258314A>G | CA389259277 | TGM1 | c.1373T>C (p.Val458Ala) c.47T>C (p.Val16Ala) c.446T>C (p.Val149Ala) | |
14 | g.24258314A>T | CA389259284 | TGM1 | c.1373T>A (p.Val458Glu) c.47T>A (p.Val16Glu) c.446T>A (p.Val149Glu) | |
14 | g.24258315C>A | CA389259290 | TGM1 | c.1372G>T (p.Val458Leu) c.46G>T (p.Val16Leu) c.445G>T (p.Val149Leu) | |
14 | g.24258315C= | CA2123836477 | TGM1 | c.1372G= (p.Val458=) c.46G= (p.Val16=) c.445G= (p.Val149=) | |
14 | g.24258315C>G | CA389259298 | TGM1 | c.1372G>C (p.Val458Leu) c.46G>C (p.Val16Leu) c.445G>C (p.Val149Leu) | |
14 | g.24258315C>T | CA257897649 | TGM1 | c.1372G>A (p.Val458Met) c.46G>A (p.Val16Met) c.445G>A (p.Val149Met) | dbSNP gnomAD v4 |
14 | g.24258316C>A | CA485783105 | TGM1 | c.1371G>T (p.Val457=) c.45G>T (p.Val15=) c.444G>T (p.Val148=) | ClinVar |
14 | g.24258316C>G | CA485783107 | TGM1 | c.1371G>C (p.Val457=) c.45G>C (p.Val15=) c.444G>C (p.Val148=) | |
14 | g.24258316C>T | CA485783108 | TGM1 | c.1371G>A (p.Val457=) c.45G>A (p.Val15=) c.444G>A (p.Val148=) | |
14 | g.24258317A= | CA2123836488 | TGM1 | c.1370T= (p.Val457=) c.44T= (p.Val15=) c.443T= (p.Val148=) | |
14 | g.24258317A>C | CA389259313 | TGM1 | c.1370T>G (p.Val457Gly) c.44T>G (p.Val15Gly) c.443T>G (p.Val148Gly) | dbSNP |
14 | g.24258317A>G | CA389259310 | TGM1 | c.1370T>C (p.Val457Ala) c.44T>C (p.Val15Ala) c.443T>C (p.Val148Ala) | gnomAD v4 |
14 | g.24258317A>T | CA389259308 | TGM1 | c.1370T>A (p.Val457Glu) c.44T>A (p.Val15Glu) c.443T>A (p.Val148Glu) | |
14 | g.24258318C>A | CA389259323 | TGM1 | c.1369G>T (p.Val457Leu) c.43G>T (p.Val15Leu) c.442G>T (p.Val148Leu) | |
14 | g.24258318C>G | CA389259325 | TGM1 | c.1369G>C (p.Val457Leu) c.43G>C (p.Val15Leu) c.442G>C (p.Val148Leu) | |
14 | g.24258318C>T | CA389259326 | TGM1 | c.1369G>A (p.Val457Met) c.43G>A (p.Val15Met) c.442G>A (p.Val148Met) | gnomAD v4 |
14 | g.24258319C>A | CA389259329 | TGM1 | c.1368G>T (p.Gln456His) c.42G>T (p.Gln14His) c.441G>T (p.Gln147His) | |
14 | g.24258319C>G | CA389259341 | TGM1 | c.1368G>C (p.Gln456His) c.42G>C (p.Gln14His) c.441G>C (p.Gln147His) | |
14 | g.24258319C>T | CA485783114 | TGM1 | c.1368G>A (p.Gln456=) c.42G>A (p.Gln14=) c.441G>A (p.Gln147=) | |
14 | g.24258320T>A | CA389259346 | TGM1 | c.1367A>T (p.Gln456Leu) c.41A>T (p.Gln14Leu) c.440A>T (p.Gln147Leu) | |
14 | g.24258320T>C | CA389259388 | TGM1 | c.1367A>G (p.Gln456Arg) c.41A>G (p.Gln14Arg) c.440A>G (p.Gln147Arg) | |
14 | g.24258320T>G | CA389259393 | TGM1 | c.1367A>C (p.Gln456Pro) c.41A>C (p.Gln14Pro) c.440A>C (p.Gln147Pro) | |
14 | g.24258321G>A | CA389259402 | TGM1 | c.1366C>T (p.Gln456Ter) c.40C>T (p.Gln14Ter) c.439C>T (p.Gln147Ter) | ClinVar |
14 | g.24258321G>C | CA389259405 | TGM1 | c.1366C>G (p.Gln456Glu) c.40C>G (p.Gln14Glu) c.439C>G (p.Gln147Glu) | |
14 | g.24258321G>T | CA389259413 | TGM1 | c.1366C>A (p.Gln456Lys) c.40C>A (p.Gln14Lys) c.439C>A (p.Gln147Lys) | |
14 | g.24258322C>A | CA389259430 | TGM1 | c.1365G>T (p.Trp455Cys) c.39G>T (p.Trp13Cys) c.438G>T (p.Trp146Cys) | dbSNP gnomAD v4 |
14 | g.24258322C= | CA2123836494 | TGM1 | c.1365G= (p.Trp455=) c.39G= (p.Trp13=) c.438G= (p.Trp146=) | |
14 | g.24258322C>G | CA389259426 | TGM1 | c.1365G>C (p.Trp455Cys) c.39G>C (p.Trp13Cys) c.438G>C (p.Trp146Cys) | |
14 | g.24258322C>T | CA389259419 | TGM1 | c.1365G>A (p.Trp455Ter) c.39G>A (p.Trp13Ter) c.438G>A (p.Trp146Ter) | |
14 | g.24258323C>A | CA389259433 | TGM1 | c.1364G>T (p.Trp455Leu) c.38G>T (p.Trp13Leu) c.437G>T (p.Trp146Leu) | |
14 | g.24258323C>G | CA389259434 | TGM1 | c.1364G>C (p.Trp455Ser) c.38G>C (p.Trp13Ser) c.437G>C (p.Trp146Ser) | |
14 | g.24258323C>T | CA389259438 | TGM1 | c.1364G>A (p.Trp455Ter) c.38G>A (p.Trp13Ter) c.437G>A (p.Trp146Ter) | |
14 | g.24258324A= | CA2123836503 | TGM1 | c.1363T= (p.Trp455=) c.37T= (p.Trp13=) c.436T= (p.Trp146=) | |
14 | g.24258324A>C | CA389259452 | TGM1 | c.1363T>G (p.Trp455Gly) c.37T>G (p.Trp13Gly) c.436T>G (p.Trp146Gly) | |
14 | g.24258324A>G | CA279146 | TGM1 | c.1363T>C (p.Trp455Arg) c.37T>C (p.Trp13Arg) c.436T>C (p.Trp146Arg) | ClinVar dbSNP |
14 | g.24258324A>T | CA389259463 | TGM1 | c.1363T>A (p.Trp455Arg) c.37T>A (p.Trp13Arg) c.436T>A (p.Trp146Arg) | |
14 | g.24258325C>A | CA485783127 | TGM1 | c.1362G>T (p.Gly454=) c.36G>T (p.Gly12=) c.435G>T (p.Gly145=) | |
14 | g.24258325C= | CA2123836508 | TGM1 | c.1362G= (p.Gly454=) c.36G= (p.Gly12=) c.435G= (p.Gly145=) | |
14 | g.24258325C>G | CA485783128 | TGM1 | c.1362G>C (p.Gly454=) c.36G>C (p.Gly12=) c.435G>C (p.Gly145=) | |
14 | g.24258325C>T | CA485783129 | TGM1 | c.1362G>A (p.Gly454=) c.36G>A (p.Gly12=) c.435G>A (p.Gly145=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.24258326C>A | CA389259472 | TGM1 | c.1361G>T (p.Gly454Val) c.35G>T (p.Gly12Val) c.434G>T (p.Gly145Val) | |
14 | g.24258326C= | CA2123836517 | TGM1 | c.1361G= (p.Gly454=) c.35G= (p.Gly12=) c.434G= (p.Gly145=) | |
14 | g.24258326C>G | CA389259480 | TGM1 | c.1361G>C (p.Gly454Ala) c.35G>C (p.Gly12Ala) c.434G>C (p.Gly145Ala) | |
14 | g.24258326C>T | CA389259485 | TGM1 | c.1361G>A (p.Gly454Glu) c.35G>A (p.Gly12Glu) c.434G>A (p.Gly145Glu) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24258327C>A | CA389259491 | TGM1 | c.1360G>T (p.Gly454Trp) c.34G>T (p.Gly12Trp) c.433G>T (p.Gly145Trp) | gnomAD v4 |
14 | g.24258327C>G | CA389259493 | TGM1 | c.1360G>C (p.Gly454Arg) c.34G>C (p.Gly12Arg) c.433G>C (p.Gly145Arg) | |
14 | g.24258327C>T | CA389259494 | TGM1 | c.1360G>A (p.Gly454Arg) c.34G>A (p.Gly12Arg) c.433G>A (p.Gly145Arg) | |
14 | g.24258328A= | CA2123836522 | TGM1 | c.1359T= (p.Asp453=) c.33T= (p.Asp11=) c.432T= (p.Asp144=) | |
14 | g.24258328A>C | CA389259509 | TGM1 | c.1359T>G (p.Asp453Glu) c.33T>G (p.Asp11Glu) c.432T>G (p.Asp144Glu) | |
14 | g.24258328A>G | CA7131107 | TGM1 | c.1359T>C (p.Asp453=) c.33T>C (p.Asp11=) c.432T>C (p.Asp144=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24258328A>T | CA389259501 | TGM1 | c.1359T>A (p.Asp453Glu) c.33T>A (p.Asp11Glu) c.432T>A (p.Asp144Glu) | |
14 | g.24258329T>A | CA389259514 | TGM1 | c.1358A>T (p.Asp453Val) c.32A>T (p.Asp11Val) c.431A>T (p.Asp144Val) | |
14 | g.24258329T>C | CA389259511 | TGM1 | c.1358A>G (p.Asp453Gly) c.32A>G (p.Asp11Gly) c.431A>G (p.Asp144Gly) | |
14 | g.24258329T>G | CA389259512 | TGM1 | c.1358A>C (p.Asp453Ala) c.32A>C (p.Asp11Ala) c.431A>C (p.Asp144Ala) | |
14 | g.24258330C>A | CA389259517 | TGM1 | c.1357G>T (p.Asp453Tyr) c.31G>T (p.Asp11Tyr) c.430G>T (p.Asp144Tyr) | |
14 | g.24258330C>G | CA389259521 | TGM1 | c.1357G>C (p.Asp453His) c.31G>C (p.Asp11His) c.430G>C (p.Asp144His) | |
14 | g.24258330C>T | CA389259527 | TGM1 | c.1357G>A (p.Asp453Asn) c.31G>A (p.Asp11Asn) c.430G>A (p.Asp144Asn) | gnomAD v4 |
14 | g.24258331A>C | CA389259532 | TGM1 | c.1356T>G (p.Phe452Leu) c.30T>G (p.Phe10Leu) c.429T>G (p.Phe143Leu) | |
14 | g.24258331A>G | CA485783139 | TGM1 | c.1356T>C (p.Phe452=) c.30T>C (p.Phe10=) c.429T>C (p.Phe143=) | |
14 | g.24258331A>T | CA389259533 | TGM1 | c.1356T>A (p.Phe452Leu) c.30T>A (p.Phe10Leu) c.429T>A (p.Phe143Leu) | |
14 | g.24258332A>C | CA389259537 | TGM1 | c.1355T>G (p.Phe452Cys) c.29T>G (p.Phe10Cys) c.428T>G (p.Phe143Cys) | |
14 | g.24258332A>G | CA389259538 | TGM1 | c.1355T>C (p.Phe452Ser) c.29T>C (p.Phe10Ser) c.428T>C (p.Phe143Ser) | |
14 | g.24258332A>T | CA389259541 | TGM1 | c.1355T>A (p.Phe452Tyr) c.29T>A (p.Phe10Tyr) c.428T>A (p.Phe143Tyr) | |
14 | g.24258333A>C | CA389259546 | TGM1 | c.1354T>G (p.Phe452Val) c.28T>G (p.Phe10Val) c.427T>G (p.Phe143Val) | |
14 | g.24258333A>G | CA389259550 | TGM1 | c.1354T>C (p.Phe452Leu) c.28T>C (p.Phe10Leu) c.427T>C (p.Phe143Leu) | |
14 | g.24258333A>T | CA389259553 | TGM1 | c.1354T>A (p.Phe452Ile) c.28T>A (p.Phe10Ile) c.427T>A (p.Phe143Ile) | |
14 | g.24258334G>A | CA257897677 | TGM1 | c.1353C>T (p.Gly451=) c.27C>T (p.Gly9=) c.426C>T (p.Gly142=) | ClinVar dbSNP |
14 | g.24258334G>C | CA485783145 | TGM1 | c.1353C>G (p.Gly451=) c.27C>G (p.Gly9=) c.426C>G (p.Gly142=) | |
14 | g.24258334G= | CA2123836526 | TGM1 | c.1353C= (p.Gly451=) c.27C= (p.Gly9=) c.426C= (p.Gly142=) | |
14 | g.24258334G>T | CA485783146 | TGM1 | c.1353C>A (p.Gly451=) c.27C>A (p.Gly9=) c.426C>A (p.Gly142=) | |
14 | g.24258335C>A | CA389259558 | TGM1 | c.1352G>T (p.Gly451Val) c.26G>T (p.Gly9Val) c.425G>T (p.Gly142Val) | |
14 | g.24258335C>G | CA389259563 | TGM1 | c.1352G>C (p.Gly451Ala) c.26G>C (p.Gly9Ala) c.425G>C (p.Gly142Ala) | |
14 | g.24258335C>T | CA389259562 | TGM1 | c.1352G>A (p.Gly451Asp) c.26G>A (p.Gly9Asp) c.425G>A (p.Gly142Asp) | |
14 | g.24258336C>A | CA389259566 | TGM1 | c.1351G>T (p.Gly451Cys) c.25G>T (p.Gly9Cys) c.424G>T (p.Gly142Cys) | |
14 | g.24258336C>G | CA389259569 | TGM1 | c.1351G>C (p.Gly451Arg) c.25G>C (p.Gly9Arg) c.424G>C (p.Gly142Arg) | |
14 | g.24258336C>T | CA389259573 | TGM1 | c.1351G>A (p.Gly451Ser) c.25G>A (p.Gly9Ser) c.424G>A (p.Gly142Ser) | |
14 | g.24258337C>A | CA485783150 | TGM1 | c.1350G>T (p.Ser450=) c.24G>T (p.Ser8=) c.423G>T (p.Ser141=) | |
14 | g.24258337C= | CA2123836528 | TGM1 | c.1350G= (p.Ser450=) c.24G= (p.Ser8=) c.423G= (p.Ser141=) | |
14 | g.24258337C>G | CA7131108 | TGM1 | c.1350G>C (p.Ser450=) c.24G>C (p.Ser8=) c.423G>C (p.Ser141=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24258337C>T | CA7131109 | TGM1 | c.1350G>A (p.Ser450=) c.24G>A (p.Ser8=) c.423G>A (p.Ser141=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24258338G>A | CA7131110 | TGM1 | c.1349C>T (p.Ser450Leu) c.23C>T (p.Ser8Leu) c.422C>T (p.Ser141Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24258338G>C | CA389259592 | TGM1 | c.1349C>G (p.Ser450Trp) c.23C>G (p.Ser8Trp) c.422C>G (p.Ser141Trp) | gnomAD v4 |
14 | g.24258338G= | CA2123836535 | TGM1 | c.1349C= (p.Ser450=) c.23C= (p.Ser8=) c.422C= (p.Ser141=) | |
14 | g.24258338G>T | CA389259594 | TGM1 | c.1349C>A (p.Ser450Ter) c.23C>A (p.Ser8Ter) c.422C>A (p.Ser141Ter) | |
14 | g.24258339A>C | CA389259611 | TGM1 | c.1348T>G (p.Ser450Ala) c.22T>G (p.Ser8Ala) c.421T>G (p.Ser141Ala) | |
14 | g.24258339A>G | CA389259620 | TGM1 | c.1348T>C (p.Ser450Pro) c.22T>C (p.Ser8Pro) c.421T>C (p.Ser141Pro) | |
14 | g.24258339A>T | CA389259628 | TGM1 | c.1348T>A (p.Ser450Thr) c.22T>A (p.Ser8Thr) c.421T>A (p.Ser141Thr) | |
14 | g.24258340G>A | CA485783156 | TGM1 | c.1347C>T (p.Pro449=) c.21C>T (p.Pro7=) c.420C>T (p.Pro140=) | |
14 | g.24258340G>C | CA485783157 | TGM1 | c.1347C>G (p.Pro449=) c.21C>G (p.Pro7=) c.420C>G (p.Pro140=) | |
14 | g.24258340G>T | CA485783159 | TGM1 | c.1347C>A (p.Pro449=) c.21C>A (p.Pro7=) c.420C>A (p.Pro140=) | |
14 | g.24258341G>A | CA389259634 | TGM1 | c.1346C>T (p.Pro449Leu) c.20C>T (p.Pro7Leu) c.419C>T (p.Pro140Leu) | gnomAD v4 |
14 | g.24258341G>C | CA389259636 | TGM1 | c.1346C>G (p.Pro449Arg) c.20C>G (p.Pro7Arg) c.419C>G (p.Pro140Arg) | |
14 | g.24258341G>T | CA389259632 | TGM1 | c.1346C>A (p.Pro449His) c.20C>A (p.Pro7His) c.419C>A (p.Pro140His) | |
14 | g.24258342G>A | CA389259639 | TGM1 | c.1345C>T (p.Pro449Ser) c.19C>T (p.Pro7Ser) c.418C>T (p.Pro140Ser) | |
14 | g.24258342G>C | CA389259642 | TGM1 | c.1345C>G (p.Pro449Ala) c.19C>G (p.Pro7Ala) c.418C>G (p.Pro140Ala) | |
14 | g.24258342G>T | CA389259648 | TGM1 | c.1345C>A (p.Pro449Thr) c.19C>A (p.Pro7Thr) c.418C>A (p.Pro140Thr) | |
14 | g.24258343C>A | CA485783161 | TGM1 | c.1344G>T (p.Leu448=) c.18G>T (p.Leu6=) c.417G>T (p.Leu139=) | |
14 | g.24258343C= | CA2123836539 | TGM1 | c.1344G= (p.Leu448=) c.18G= (p.Leu6=) c.417G= (p.Leu139=) | |
14 | g.24258343C>G | CA7131111 | TGM1 | c.1344G>C (p.Leu448=) c.18G>C (p.Leu6=) c.417G>C (p.Leu139=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.24258343C>T | CA257897711 | TGM1 | c.1344G>A (p.Leu448=) c.18G>A (p.Leu6=) c.417G>A (p.Leu139=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24258344_24258353del | CA2573149806 | TGM1 | c.1335_1344del (p.Arg445SerfsTer?) c.9_18del (p.Arg3SerfsTer?) c.408_417del (p.Arg136SerfsTer?) | ClinVar dbSNP |
14 | g.24258344A>C | CA389259659 | TGM1 | c.1343T>G (p.Leu448Arg) c.17T>G (p.Leu6Arg) c.416T>G (p.Leu139Arg) | |
14 | g.24258344A>G | CA389259664 | TGM1 | c.1343T>C (p.Leu448Pro) c.17T>C (p.Leu6Pro) c.416T>C (p.Leu139Pro) | |
14 | g.24258344A>T | CA389259666 | TGM1 | c.1343T>A (p.Leu448Gln) c.17T>A (p.Leu6Gln) c.416T>A (p.Leu139Gln) |