Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.24258242delCA961133375TGM1c.1402+47del (n.1402+47del)
c.76+47del (n.76+47del)
c.475+47del (n.475+47del)
 dbSNP gnomAD v3 gnomAD v4
14g.24258240G>CCA257897577TGM1c.1402+45C>G (n.1402+45C>G)
c.76+45C>G (n.76+45C>G)
c.475+45C>G (n.475+45C>G)
 dbSNP gnomAD v3 gnomAD v4
14g.24258240G=CA2123836251TGM1c.1402+45C= (n.1402+45C=)
c.76+45C= (n.76+45C=)
c.475+45C= (n.475+45C=)
14g.24258240G>TCA2624345933TGM1c.1402+45C>A (n.1402+45C>A)
c.76+45C>A (n.76+45C>A)
c.475+45C>A (n.475+45C>A)
 gnomAD v4
14g.24258241G>ACA7131097TGM1c.1402+44C>T (n.1402+44C>T)
c.76+44C>T (n.76+44C>T)
c.475+44C>T (n.475+44C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.24258241G=CA2123836254TGM1c.1402+44C= (n.1402+44C=)
c.76+44C= (n.76+44C=)
c.475+44C= (n.475+44C=)
14g.24258241G>TCA2508251155TGM1c.1402+44C>A (n.1402+44C>A)
c.76+44C>A (n.76+44C>A)
c.475+44C>A (n.475+44C>A)
14g.24258242G>ACA2575493891TGM1c.1402+43C>T (n.1402+43C>T)
c.76+43C>T (n.76+43C>T)
c.475+43C>T (n.475+43C>T)
14g.24258242G=CA2123836259TGM1c.1402+43C= (n.1402+43C=)
c.76+43C= (n.76+43C=)
c.475+43C= (n.475+43C=)
14g.24258242G>TCA613320753TGM1c.1402+43C>A (n.1402+43C>A)
c.76+43C>A (n.76+43C>A)
c.475+43C>A (n.475+43C>A)
 dbSNP gnomAD v2 gnomAD v4
14g.24258243A>GCA2624345934TGM1c.1402+42T>C (n.1402+42T>C)
c.76+42T>C (n.76+42T>C)
c.475+42T>C (n.475+42T>C)
 gnomAD v4
14g.24258244G>ACA704350891TGM1c.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
14g.24258244G=CA2123836261TGM1c.1402+41C= (n.1402+41C=)
c.76+41C= (n.76+41C=)
c.475+41C= (n.475+41C=)
14g.24258244G>TCA2575493892TGM1c.1402+41C>A (n.1402+41C>A)
c.76+41C>A (n.76+41C>A)
c.475+41C>A (n.475+41C>A)
14g.24258245A=CA2123836265TGM1c.1402+40T= (n.1402+40T=)
c.76+40T= (n.76+40T=)
c.475+40T= (n.475+40T=)
14g.24258245A>CCA961133376TGM1c.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
14g.24258246T>CCA2624345935TGM1c.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
14g.24258249G=CA2123836267TGM1c.1402+36C= (n.1402+36C=)
c.76+36C= (n.76+36C=)
c.475+36C= (n.475+36C=)
14g.24258249G>TCA2123836269TGM1c.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
14g.24258250C=CA2123836271TGM1c.1402+35G= (n.1402+35G=)
c.76+35G= (n.76+35G=)
c.475+35G= (n.475+35G=)
14g.24258250C>GCA7131098TGM1c.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
14g.24258250C>TCA2123836273TGM1c.1402+35G>A (n.1402+35G>A)
c.76+35G>A (n.76+35G>A)
c.475+35G>A (n.475+35G>A)
 dbSNP
14g.24258251A=CA2123836277TGM1c.1402+34T= (n.1402+34T=)
c.76+34T= (n.76+34T=)
c.475+34T= (n.475+34T=)
14g.24258251A>TCA2123836274TGM1c.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
14g.24258252G>ACA257897593TGM1c.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
14g.24258252G=CA2123836278TGM1c.1402+33C= (n.1402+33C=)
c.76+33C= (n.76+33C=)
c.475+33C= (n.475+33C=)
14g.24258252G>TCA2575493893TGM1c.1402+33C>A (n.1402+33C>A)
c.76+33C>A (n.76+33C>A)
c.475+33C>A (n.475+33C>A)
14g.24258253G>ACA2800897320TGM1c.1402+32C>T (n.1402+32C>T)
c.76+32C>T (n.76+32C>T)
c.475+32C>T (n.475+32C>T)
14g.24258254G>CCA2123836289TGM1c.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
14g.24258254G=CA2123836281TGM1c.1402+31C= (n.1402+31C=)
c.76+31C= (n.76+31C=)
c.475+31C= (n.475+31C=)
14g.24258254G>TCA2624345936TGM1c.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
14g.24258255G>CCA2624345937TGM1c.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
14g.24258255G=CA2123836292TGM1c.1402+30C= (n.1402+30C=)
c.76+30C= (n.76+30C=)
c.475+30C= (n.475+30C=)
14g.24258255G>TCA613320754TGM1c.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
14g.24258256C=CA2123836295TGM1c.1402+29G= (n.1402+29G=)
c.76+29G= (n.76+29G=)
c.475+29G= (n.475+29G=)
14g.24258256C>TCA2123836296TGM1c.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
14g.24258257A>GCA2624345938TGM1c.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
14g.24258257A>TCA2624345939TGM1c.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
14g.24258258T>ACA7131099TGM1c.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
14g.24258258T=CA2123836300TGM1c.1402+27A= (n.1402+27A=)
c.76+27A= (n.76+27A=)
c.475+27A= (n.475+27A=)
14g.24258259G>ACA2624345940TGM1c.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
14g.24258259G>TCA2624345941TGM1c.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
14g.24258260G>ACA613320755TGM1c.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
14g.24258260G>CCA2123836305TGM1c.1402+25C>G (n.1402+25C>G)
c.76+25C>G (n.76+25C>G)
c.475+25C>G (n.475+25C>G)
 dbSNP
14g.24258260G=CA2123836303TGM1c.1402+25C= (n.1402+25C=)
c.76+25C= (n.76+25C=)
c.475+25C= (n.475+25C=)
14g.24258260G>TCA961133377TGM1c.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
14g.24258261T>GCA613320756TGM1c.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
14g.24258261T=CA2123836310TGM1c.1402+24A= (n.1402+24A=)
c.76+24A= (n.76+24A=)
c.475+24A= (n.475+24A=)
14g.24258262G>ACA7131100TGM1c.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
14g.24258262G=CA2123836312TGM1c.1402+23C= (n.1402+23C=)
c.76+23C= (n.76+23C=)
c.475+23C= (n.475+23C=)
14g.24258262G>TCA2529133942TGM1c.1402+23C>A (n.1402+23C>A)
c.76+23C>A (n.76+23C>A)
c.475+23C>A (n.475+23C>A)
14g.24258265delCA2575493894TGM1c.1402+23del (n.1402+23del)
c.76+23del (n.76+23del)
c.475+23del (n.475+23del)
 gnomAD v4
14g.24258263G>CCA2624345942TGM1c.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
14g.24258264G>TCA2624345943TGM1c.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
14g.24258265G>TCA2524802152TGM1c.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
14g.24258266A=CA2123836318TGM1c.1402+19T= (n.1402+19T=)
c.76+19T= (n.76+19T=)
c.475+19T= (n.475+19T=)
14g.24258266A>GCA613320757TGM1c.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
14g.24258266A>TCA2575493895TGM1c.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
14g.24258267G>TCA2624345944TGM1c.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
14g.24258268T>ACA7131101TGM1c.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
14g.24258268T>GCA704350905TGM1c.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
14g.24258268T=CA2123836321TGM1c.1402+17A= (n.1402+17A=)
c.76+17A= (n.76+17A=)
c.475+17A= (n.475+17A=)
14g.24258269G>ACA7131102TGM1c.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
14g.24258269G>CCA2123836327TGM1c.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
14g.24258269G=CA2123836326TGM1c.1402+16C= (n.1402+16C=)
c.76+16C= (n.76+16C=)
c.475+16C= (n.475+16C=)
14g.24258269G>TCA2123836329TGM1c.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
14g.24258274dupCA613320758TGM1c.1402+16dup (n.1402+16dup)
c.76+16dup (n.76+16dup)
c.475+16dup (n.475+16dup)
 gnomAD v2 gnomAD v4
14g.24258274delCA2575493896TGM1c.1402+16del (n.1402+16del)
c.76+16del (n.76+16del)
c.475+16del (n.475+16del)
 ClinVar gnomAD v4
14g.24258270G>TCA2575493897TGM1c.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
14g.24258271G>ACA2503564434TGM1c.1402+14C>T (n.1402+14C>T)
c.76+14C>T (n.76+14C>T)
c.475+14C>T (n.475+14C>T)
14g.24258271G>CCA2624345945TGM1c.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
14g.24258272G>ACA2123836332TGM1c.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
14g.24258272G>CCA2739277835TGM1c.1402+13C>G (n.1402+13C>G)
c.76+13C>G (n.76+13C>G)
c.475+13C>G (n.475+13C>G)
 ClinVar
14g.24258272G=CA2123836331TGM1c.1402+13C= (n.1402+13C=)
c.76+13C= (n.76+13C=)
c.475+13C= (n.475+13C=)
14g.24258273G>ACA2624345946TGM1c.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
14g.24258273G>TCA2575493898TGM1c.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
14g.24258274G>ACA613320759TGM1c.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
14g.24258274G>CCA2740097726TGM1c.1402+11C>G (n.1402+11C>G)
c.76+11C>G (n.76+11C>G)
c.475+11C>G (n.475+11C>G)
 ClinVar
14g.24258274G=CA2123836335TGM1c.1402+11C= (n.1402+11C=)
c.76+11C= (n.76+11C=)
c.475+11C= (n.475+11C=)
14g.24258274G>TCA7131103TGM1c.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
14g.24258275C>ACA704350910TGM1c.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
14g.24258275C=CA2123836345TGM1c.1402+10G= (n.1402+10G=)
c.76+10G= (n.76+10G=)
c.475+10G= (n.475+10G=)
14g.24258276C>TCA2575493899TGM1c.1402+9G>A (n.1402+9G>A)
c.76+9G>A (n.76+9G>A)
c.475+9G>A (n.475+9G>A)
 ClinVar
14g.24258280C>TCA2624345947TGM1c.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
14g.24258282delCA2546837765TGM1c.1402+4del (n.1402+4del)
c.76+4del (n.76+4del)
c.475+4del (n.475+4del)
14g.24258283A=CA2123836356TGM1c.1402+2T= (n.1402+2T=)
c.76+2T= (n.76+2T=)
c.475+2T= (n.475+2T=)
14g.24258283A>CCA389258748TGM1c.1402+2T>G (n.1402+2T>G)
c.76+2T>G (n.76+2T>G)
c.475+2T>G (n.475+2T>G)
14g.24258283A>GCA257897603TGM1c.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
14g.24258283A>TCA257897602TGM1c.1402+2T>A (n.1402+2T>A)
c.76+2T>A (n.76+2T>A)
c.475+2T>A (n.475+2T>A)
 dbSNP
14g.24258284C>ACA389258782TGM1c.1402+1G>T (n.1402+1G>T)
c.76+1G>T (n.76+1G>T)
c.475+1G>T (n.475+1G>T)
14g.24258284C=CA2123836362TGM1c.1402+1G= (n.1402+1G=)
c.76+1G= (n.76+1G=)
c.475+1G= (n.475+1G=)
14g.24258284C>GCA389258789TGM1c.1402+1G>C (n.1402+1G>C)
c.76+1G>C (n.76+1G>C)
c.475+1G>C (n.475+1G>C)
14g.24258284C>TCA389258784TGM1c.1402+1G>A (n.1402+1G>A)
c.76+1G>A (n.76+1G>A)
c.475+1G>A (n.475+1G>A)
 ClinVar
14g.24258285C>ACA389258793TGM1c.1402G>T (p.Gly468Cys)
c.76G>T (p.Gly26Cys)
c.475G>T (p.Gly159Cys)
14g.24258285C=CA2123836369TGM1c.1402G= (p.Gly468=)
c.76G= (p.Gly26=)
c.475G= (p.Gly159=)
14g.24258285C>GCA389258794TGM1c.1402G>C (p.Gly468Arg)
c.76G>C (p.Gly26Arg)
c.475G>C (p.Gly159Arg)
14g.24258285C>TCA389258796TGM1c.1402G>A (p.Gly468Ser)
c.76G>A (p.Gly26Ser)
c.475G>A (p.Gly159Ser)
 dbSNP gnomAD v2 gnomAD v4
14g.24258286A=CA2123836376TGM1c.1401T= (p.Ser467=)
c.75T= (p.Ser25=)
c.474T= (p.Ser158=)
14g.24258286A>CCA389258831TGM1c.1401T>G (p.Ser467Arg)
c.75T>G (p.Ser25Arg)
c.474T>G (p.Ser158Arg)
14g.24258286A>GCA485783051TGM1c.1401T>C (p.Ser467=)
c.75T>C (p.Ser25=)
c.474T>C (p.Ser158=)
 dbSNP
14g.24258286A>TCA389258840TGM1c.1401T>A (p.Ser467Arg)
c.75T>A (p.Ser25Arg)
c.474T>A (p.Ser158Arg)
14g.24258286dupCA7131104TGM1c.1401dup (p.Gly468TrpfsTer30)
c.75dup (p.Gly26TrpfsTer30)
c.474dup (p.Gly159TrpfsTer30)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.24258287C>ACA389258848TGM1c.1400G>T (p.Ser467Ile)
c.74G>T (p.Ser25Ile)
c.473G>T (p.Ser158Ile)
14g.24258287C>GCA389258855TGM1c.1400G>C (p.Ser467Thr)
c.74G>C (p.Ser25Thr)
c.473G>C (p.Ser158Thr)
14g.24258287C>TCA389258856TGM1c.1400G>A (p.Ser467Asn)
c.74G>A (p.Ser25Asn)
c.473G>A (p.Ser158Asn)
 gnomAD v4
14g.24258288T>ACA389258859TGM1c.1399A>T (p.Ser467Cys)
c.73A>T (p.Ser25Cys)
c.472A>T (p.Ser158Cys)
 COSMIC
14g.24258288T>CCA389258865TGM1c.1399A>G (p.Ser467Gly)
c.73A>G (p.Ser25Gly)
c.472A>G (p.Ser158Gly)
14g.24258288T>GCA389258879TGM1c.1399A>C (p.Ser467Arg)
c.73A>C (p.Ser25Arg)
c.472A>C (p.Ser158Arg)
14g.24258289G>ACA485783055TGM1c.1398C>T (p.Ser466=)
c.72C>T (p.Ser24=)
c.471C>T (p.Ser157=)
 dbSNP
14g.24258289G>CCA389258884TGM1c.1398C>G (p.Ser466Arg)
c.72C>G (p.Ser24Arg)
c.471C>G (p.Ser157Arg)
14g.24258289G=CA2123836382TGM1c.1398C= (p.Ser466=)
c.72C= (p.Ser24=)
c.471C= (p.Ser157=)
14g.24258289G>TCA389258885TGM1c.1398C>A (p.Ser466Arg)
c.72C>A (p.Ser24Arg)
c.471C>A (p.Ser157Arg)
 gnomAD v4
14g.24258290C>ACA389258888TGM1c.1397G>T (p.Ser466Ile)
c.71G>T (p.Ser24Ile)
c.470G>T (p.Ser157Ile)
14g.24258290C>GCA389258889TGM1c.1397G>C (p.Ser466Thr)
c.71G>C (p.Ser24Thr)
c.470G>C (p.Ser157Thr)
14g.24258290C>TCA389258900TGM1c.1397G>A (p.Ser466Asn)
c.71G>A (p.Ser24Asn)
c.470G>A (p.Ser157Asn)
14g.24258291T>ACA389258903TGM1c.1396A>T (p.Ser466Cys)
c.70A>T (p.Ser24Cys)
c.469A>T (p.Ser157Cys)
14g.24258291T>CCA389258904TGM1c.1396A>G (p.Ser466Gly)
c.70A>G (p.Ser24Gly)
c.469A>G (p.Ser157Gly)
14g.24258291T>GCA389258906TGM1c.1396A>C (p.Ser466Arg)
c.70A>C (p.Ser24Arg)
c.469A>C (p.Ser157Arg)
14g.24258292A>CCA485783062TGM1c.1395T>G (p.Thr465=)
c.69T>G (p.Thr23=)
c.468T>G (p.Thr156=)
14g.24258292A>GCA485783063TGM1c.1395T>C (p.Thr465=)
c.69T>C (p.Thr23=)
c.468T>C (p.Thr156=)
14g.24258292A>TCA485783064TGM1c.1395T>A (p.Thr465=)
c.69T>A (p.Thr23=)
c.468T>A (p.Thr156=)
14g.24258293G>ACA7131105TGM1c.1394C>T (p.Thr465Ile)
c.68C>T (p.Thr23Ile)
c.467C>T (p.Thr156Ile)
 dbSNP ExAC gnomAD v2 COSMIC
14g.24258293G>CCA389258910TGM1c.1394C>G (p.Thr465Ser)
c.68C>G (p.Thr23Ser)
c.467C>G (p.Thr156Ser)
14g.24258293G=CA2123836386TGM1c.1394C= (p.Thr465=)
c.68C= (p.Thr23=)
c.467C= (p.Thr156=)
14g.24258293G>TCA389258917TGM1c.1394C>A (p.Thr465Asn)
c.68C>A (p.Thr23Asn)
c.467C>A (p.Thr156Asn)
14g.24258294T>ACA389258924TGM1c.1393A>T (p.Thr465Ser)
c.67A>T (p.Thr23Ser)
c.466A>T (p.Thr156Ser)
14g.24258294T>CCA389258925TGM1c.1393A>G (p.Thr465Ala)
c.67A>G (p.Thr23Ala)
c.466A>G (p.Thr156Ala)
 dbSNP gnomAD v3 gnomAD v4
14g.24258294T>GCA389258926TGM1c.1393A>C (p.Thr465Pro)
c.67A>C (p.Thr23Pro)
c.466A>C (p.Thr156Pro)
14g.24258294T=CA2123836393TGM1c.1393A= (p.Thr465=)
c.67A= (p.Thr23=)
c.466A= (p.Thr156=)
14g.24258295C>ACA389258928TGM1c.1392G>T (p.Glu464Asp)
c.66G>T (p.Glu22Asp)
c.465G>T (p.Glu155Asp)
14g.24258295C>GCA389258929TGM1c.1392G>C (p.Glu464Asp)
c.66G>C (p.Glu22Asp)
c.465G>C (p.Glu155Asp)
14g.24258295C>TCA485783070TGM1c.1392G>A (p.Glu464=)
c.66G>A (p.Glu22=)
c.465G>A (p.Glu155=)
 ClinVar dbSNP
14g.24258296T>ACA389258934TGM1c.1391A>T (p.Glu464Val)
c.65A>T (p.Glu22Val)
c.464A>T (p.Glu155Val)
14g.24258296T>CCA389258967TGM1c.1391A>G (p.Glu464Gly)
c.65A>G (p.Glu22Gly)
c.464A>G (p.Glu155Gly)
14g.24258296T>GCA389258949TGM1c.1391A>C (p.Glu464Ala)
c.65A>C (p.Glu22Ala)
c.464A>C (p.Glu155Ala)
14g.24258297C>ACA389258972TGM1c.1390G>T (p.Glu464Ter)
c.64G>T (p.Glu22Ter)
c.463G>T (p.Glu155Ter)
14g.24258297C=CA2123836400TGM1c.1390G= (p.Glu464=)
c.64G= (p.Glu22=)
c.463G= (p.Glu155=)
14g.24258297C>GCA389258974TGM1c.1390G>C (p.Glu464Gln)
c.64G>C (p.Glu22Gln)
c.463G>C (p.Glu155Gln)
14g.24258297C>TCA7131106TGM1c.1390G>A (p.Glu464Lys)
c.64G>A (p.Glu22Lys)
c.463G>A (p.Glu155Lys)
 dbSNP ExAC gnomAD v2
14g.24258298T>ACA389258989TGM1c.1389A>T (p.Gln463His)
c.63A>T (p.Gln21His)
c.462A>T (p.Gln154His)
14g.24258298T>CCA485783074TGM1c.1389A>G (p.Gln463=)
c.63A>G (p.Gln21=)
c.462A>G (p.Gln154=)
14g.24258298T>GCA389259017TGM1c.1389A>C (p.Gln463His)
c.63A>C (p.Gln21His)
c.462A>C (p.Gln154His)
14g.24258299T>ACA389259023TGM1c.1388A>T (p.Gln463Leu)
c.62A>T (p.Gln21Leu)
c.461A>T (p.Gln154Leu)
14g.24258299T>CCA389259033TGM1c.1388A>G (p.Gln463Arg)
c.62A>G (p.Gln21Arg)
c.461A>G (p.Gln154Arg)
 gnomAD v4
14g.24258299T>GCA389259042TGM1c.1388A>C (p.Gln463Pro)
c.62A>C (p.Gln21Pro)
c.461A>C (p.Gln154Pro)
14g.24258300G>ACA389259048TGM1c.1387C>T (p.Gln463Ter)
c.61C>T (p.Gln21Ter)
c.460C>T (p.Gln154Ter)
14g.24258300G>CCA389259053TGM1c.1387C>G (p.Gln463Glu)
c.61C>G (p.Gln21Glu)
c.460C>G (p.Gln154Glu)
14g.24258300G>TCA389259061TGM1c.1387C>A (p.Gln463Lys)
c.61C>A (p.Gln21Lys)
c.460C>A (p.Gln154Lys)
14g.24258301G>ACA485783078TGM1c.1386C>T (p.Pro462=)
c.60C>T (p.Pro20=)
c.459C>T (p.Pro153=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.24258301G>CCA485783079TGM1c.1386C>G (p.Pro462=)
c.60C>G (p.Pro20=)
c.459C>G (p.Pro153=)
14g.24258301G=CA2123836404TGM1c.1386C= (p.Pro462=)
c.60C= (p.Pro20=)
c.459C= (p.Pro153=)
14g.24258301G>TCA485783080TGM1c.1386C>A (p.Pro462=)
c.60C>A (p.Pro20=)
c.459C>A (p.Pro153=)
14g.24258302G>ACA389259067TGM1c.1385C>T (p.Pro462Leu)
c.59C>T (p.Pro20Leu)
c.458C>T (p.Pro153Leu)
 gnomAD v4
14g.24258302G>CCA389259073TGM1c.1385C>G (p.Pro462Arg)
c.59C>G (p.Pro20Arg)
c.458C>G (p.Pro153Arg)
14g.24258302G=CA2123836407TGM1c.1385C= (p.Pro462=)
c.59C= (p.Pro20=)
c.458C= (p.Pro153=)
14g.24258302G>TCA389259069TGM1c.1385C>A (p.Pro462His)
c.59C>A (p.Pro20His)
c.458C>A (p.Pro153His)
 dbSNP
14g.24258303G>ACA389259081TGM1c.1384C>T (p.Pro462Ser)
c.58C>T (p.Pro20Ser)
c.457C>T (p.Pro153Ser)
14g.24258303G>CCA389259109TGM1c.1384C>G (p.Pro462Ala)
c.58C>G (p.Pro20Ala)
c.457C>G (p.Pro153Ala)
14g.24258303G>TCA389259088TGM1c.1384C>A (p.Pro462Thr)
c.58C>A (p.Pro20Thr)
c.457C>A (p.Pro153Thr)
14g.24258304T>ACA485783083TGM1c.1383A>T (p.Thr461=)
c.57A>T (p.Thr19=)
c.456A>T (p.Thr152=)
14g.24258304T>CCA485783084TGM1c.1383A>G (p.Thr461=)
c.57A>G (p.Thr19=)
c.456A>G (p.Thr152=)
 ClinVar dbSNP
14g.24258304T>GCA485783085TGM1c.1383A>C (p.Thr461=)
c.57A>C (p.Thr19=)
c.456A>C (p.Thr152=)
 dbSNP
14g.24258304T=CA2123836413TGM1c.1383A= (p.Thr461=)
c.57A= (p.Thr19=)
c.456A= (p.Thr152=)
14g.24258305G>ACA389259128TGM1c.1382C>T (p.Thr461Ile)
c.56C>T (p.Thr19Ile)
c.455C>T (p.Thr152Ile)
 dbSNP gnomAD v2 gnomAD v4
14g.24258305G>CCA389259138TGM1c.1382C>G (p.Thr461Arg)
c.56C>G (p.Thr19Arg)
c.455C>G (p.Thr152Arg)
14g.24258305G=CA2123836420TGM1c.1382C= (p.Thr461=)
c.56C= (p.Thr19=)
c.455C= (p.Thr152=)
14g.24258305G>TCA389259134TGM1c.1382C>A (p.Thr461Lys)
c.56C>A (p.Thr19Lys)
c.455C>A (p.Thr152Lys)
 dbSNP gnomAD v2 gnomAD v4
14g.24258306T>ACA389259144TGM1c.1381A>T (p.Thr461Ser)
c.55A>T (p.Thr19Ser)
c.454A>T (p.Thr152Ser)
14g.24258306T>CCA389259146TGM1c.1381A>G (p.Thr461Ala)
c.55A>G (p.Thr19Ala)
c.454A>G (p.Thr152Ala)
14g.24258306T>GCA389259151TGM1c.1381A>C (p.Thr461Pro)
c.55A>C (p.Thr19Pro)
c.454A>C (p.Thr152Pro)
14g.24258307G>ACA485783090TGM1c.1380C>T (p.Ala460=)
c.54C>T (p.Ala18=)
c.453C>T (p.Ala151=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
14g.24258307G>CCA485783091TGM1c.1380C>G (p.Ala460=)
c.54C>G (p.Ala18=)
c.453C>G (p.Ala151=)
14g.24258307G=CA2123836427TGM1c.1380C= (p.Ala460=)
c.54C= (p.Ala18=)
c.453C= (p.Ala151=)
14g.24258307G>TCA485783093TGM1c.1380C>A (p.Ala460=)
c.54C>A (p.Ala18=)
c.453C>A (p.Ala151=)
 dbSNP
14g.24258308G>ACA389259154TGM1c.1379C>T (p.Ala460Val)
c.53C>T (p.Ala18Val)
c.452C>T (p.Ala151Val)
14g.24258308G>CCA389259165TGM1c.1379C>G (p.Ala460Gly)
c.53C>G (p.Ala18Gly)
c.452C>G (p.Ala151Gly)
14g.24258308G>TCA389259168TGM1c.1379C>A (p.Ala460Asp)
c.53C>A (p.Ala18Asp)
c.452C>A (p.Ala151Asp)
14g.24258309C>ACA389259171TGM1c.1378G>T (p.Ala460Ser)
c.52G>T (p.Ala18Ser)
c.451G>T (p.Ala151Ser)
14g.24258309C=CA2123836433TGM1c.1378G= (p.Ala460=)
c.52G= (p.Ala18=)
c.451G= (p.Ala151=)
14g.24258309C>GCA389259176TGM1c.1378G>C (p.Ala460Pro)
c.52G>C (p.Ala18Pro)
c.451G>C (p.Ala151Pro)
14g.24258309C>TCA389259178TGM1c.1378G>A (p.Ala460Thr)
c.52G>A (p.Ala18Thr)
c.451G>A (p.Ala151Thr)
 dbSNP gnomAD v2 gnomAD v4
14g.24258310A>CCA389259188TGM1c.1377T>G (p.Asp459Glu)
c.51T>G (p.Asp17Glu)
c.450T>G (p.Asp150Glu)
14g.24258310A>GCA485783096TGM1c.1377T>C (p.Asp459=)
c.51T>C (p.Asp17=)
c.450T>C (p.Asp150=)
14g.24258310A>TCA389259202TGM1c.1377T>A (p.Asp459Glu)
c.51T>A (p.Asp17Glu)
c.450T>A (p.Asp150Glu)
14g.24258311T>ACA389259222TGM1c.1376A>T (p.Asp459Val)
c.50A>T (p.Asp17Val)
c.449A>T (p.Asp150Val)
 dbSNP gnomAD v3 gnomAD v4
14g.24258311T>CCA389259214TGM1c.1376A>G (p.Asp459Gly)
c.50A>G (p.Asp17Gly)
c.449A>G (p.Asp150Gly)
 gnomAD v4
14g.24258311T>GCA389259216TGM1c.1376A>C (p.Asp459Ala)
c.50A>C (p.Asp17Ala)
c.449A>C (p.Asp150Ala)
14g.24258311T=CA2123836440TGM1c.1376A= (p.Asp459=)
c.50A= (p.Asp17=)
c.449A= (p.Asp150=)
14g.24258312C>ACA389259230TGM1c.1375G>T (p.Asp459Tyr)
c.49G>T (p.Asp17Tyr)
c.448G>T (p.Asp150Tyr)
14g.24258312C>GCA389259235TGM1c.1375G>C (p.Asp459His)
c.49G>C (p.Asp17His)
c.448G>C (p.Asp150His)
14g.24258312C>TCA389259240TGM1c.1375G>A (p.Asp459Asn)
c.49G>A (p.Asp17Asn)
c.448G>A (p.Asp150Asn)
14g.24258313C>ACA485783100TGM1c.1374G>T (p.Val458=)
c.48G>T (p.Val16=)
c.447G>T (p.Val149=)
14g.24258313C=CA2123836444TGM1c.1374G= (p.Val458=)
c.48G= (p.Val16=)
c.447G= (p.Val149=)
14g.24258313C>GCA485783102TGM1c.1374G>C (p.Val458=)
c.48G>C (p.Val16=)
c.447G>C (p.Val149=)
14g.24258313C>TCA257897626TGM1c.1374G>A (p.Val458=)
c.48G>A (p.Val16=)
c.447G>A (p.Val149=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.24258314A=CA2123836472TGM1c.1373T= (p.Val458=)
c.47T= (p.Val16=)
c.446T= (p.Val149=)
14g.24258314A>CCA389259275TGM1c.1373T>G (p.Val458Gly)
c.47T>G (p.Val16Gly)
c.446T>G (p.Val149Gly)
 dbSNP
14g.24258314A>GCA389259277TGM1c.1373T>C (p.Val458Ala)
c.47T>C (p.Val16Ala)
c.446T>C (p.Val149Ala)
14g.24258314A>TCA389259284TGM1c.1373T>A (p.Val458Glu)
c.47T>A (p.Val16Glu)
c.446T>A (p.Val149Glu)
14g.24258315C>ACA389259290TGM1c.1372G>T (p.Val458Leu)
c.46G>T (p.Val16Leu)
c.445G>T (p.Val149Leu)
14g.24258315C=CA2123836477TGM1c.1372G= (p.Val458=)
c.46G= (p.Val16=)
c.445G= (p.Val149=)
14g.24258315C>GCA389259298TGM1c.1372G>C (p.Val458Leu)
c.46G>C (p.Val16Leu)
c.445G>C (p.Val149Leu)
14g.24258315C>TCA257897649TGM1c.1372G>A (p.Val458Met)
c.46G>A (p.Val16Met)
c.445G>A (p.Val149Met)
 dbSNP gnomAD v4
14g.24258316C>ACA485783105TGM1c.1371G>T (p.Val457=)
c.45G>T (p.Val15=)
c.444G>T (p.Val148=)
 ClinVar
14g.24258316C>GCA485783107TGM1c.1371G>C (p.Val457=)
c.45G>C (p.Val15=)
c.444G>C (p.Val148=)
14g.24258316C>TCA485783108TGM1c.1371G>A (p.Val457=)
c.45G>A (p.Val15=)
c.444G>A (p.Val148=)
14g.24258317A=CA2123836488TGM1c.1370T= (p.Val457=)
c.44T= (p.Val15=)
c.443T= (p.Val148=)
14g.24258317A>CCA389259313TGM1c.1370T>G (p.Val457Gly)
c.44T>G (p.Val15Gly)
c.443T>G (p.Val148Gly)
 dbSNP
14g.24258317A>GCA389259310TGM1c.1370T>C (p.Val457Ala)
c.44T>C (p.Val15Ala)
c.443T>C (p.Val148Ala)
 gnomAD v4
14g.24258317A>TCA389259308TGM1c.1370T>A (p.Val457Glu)
c.44T>A (p.Val15Glu)
c.443T>A (p.Val148Glu)
14g.24258318C>ACA389259323TGM1c.1369G>T (p.Val457Leu)
c.43G>T (p.Val15Leu)
c.442G>T (p.Val148Leu)
14g.24258318C>GCA389259325TGM1c.1369G>C (p.Val457Leu)
c.43G>C (p.Val15Leu)
c.442G>C (p.Val148Leu)
14g.24258318C>TCA389259326TGM1c.1369G>A (p.Val457Met)
c.43G>A (p.Val15Met)
c.442G>A (p.Val148Met)
 gnomAD v4
14g.24258319C>ACA389259329TGM1c.1368G>T (p.Gln456His)
c.42G>T (p.Gln14His)
c.441G>T (p.Gln147His)
14g.24258319C>GCA389259341TGM1c.1368G>C (p.Gln456His)
c.42G>C (p.Gln14His)
c.441G>C (p.Gln147His)
14g.24258319C>TCA485783114TGM1c.1368G>A (p.Gln456=)
c.42G>A (p.Gln14=)
c.441G>A (p.Gln147=)
14g.24258320T>ACA389259346TGM1c.1367A>T (p.Gln456Leu)
c.41A>T (p.Gln14Leu)
c.440A>T (p.Gln147Leu)
14g.24258320T>CCA389259388TGM1c.1367A>G (p.Gln456Arg)
c.41A>G (p.Gln14Arg)
c.440A>G (p.Gln147Arg)
14g.24258320T>GCA389259393TGM1c.1367A>C (p.Gln456Pro)
c.41A>C (p.Gln14Pro)
c.440A>C (p.Gln147Pro)
14g.24258321G>ACA389259402TGM1c.1366C>T (p.Gln456Ter)
c.40C>T (p.Gln14Ter)
c.439C>T (p.Gln147Ter)
 ClinVar
14g.24258321G>CCA389259405TGM1c.1366C>G (p.Gln456Glu)
c.40C>G (p.Gln14Glu)
c.439C>G (p.Gln147Glu)
14g.24258321G>TCA389259413TGM1c.1366C>A (p.Gln456Lys)
c.40C>A (p.Gln14Lys)
c.439C>A (p.Gln147Lys)
14g.24258322C>ACA389259430TGM1c.1365G>T (p.Trp455Cys)
c.39G>T (p.Trp13Cys)
c.438G>T (p.Trp146Cys)
 dbSNP gnomAD v4
14g.24258322C=CA2123836494TGM1c.1365G= (p.Trp455=)
c.39G= (p.Trp13=)
c.438G= (p.Trp146=)
14g.24258322C>GCA389259426TGM1c.1365G>C (p.Trp455Cys)
c.39G>C (p.Trp13Cys)
c.438G>C (p.Trp146Cys)
14g.24258322C>TCA389259419TGM1c.1365G>A (p.Trp455Ter)
c.39G>A (p.Trp13Ter)
c.438G>A (p.Trp146Ter)
14g.24258323C>ACA389259433TGM1c.1364G>T (p.Trp455Leu)
c.38G>T (p.Trp13Leu)
c.437G>T (p.Trp146Leu)
14g.24258323C>GCA389259434TGM1c.1364G>C (p.Trp455Ser)
c.38G>C (p.Trp13Ser)
c.437G>C (p.Trp146Ser)
14g.24258323C>TCA389259438TGM1c.1364G>A (p.Trp455Ter)
c.38G>A (p.Trp13Ter)
c.437G>A (p.Trp146Ter)
14g.24258324A=CA2123836503TGM1c.1363T= (p.Trp455=)
c.37T= (p.Trp13=)
c.436T= (p.Trp146=)
14g.24258324A>CCA389259452TGM1c.1363T>G (p.Trp455Gly)
c.37T>G (p.Trp13Gly)
c.436T>G (p.Trp146Gly)
14g.24258324A>GCA279146TGM1c.1363T>C (p.Trp455Arg)
c.37T>C (p.Trp13Arg)
c.436T>C (p.Trp146Arg)
 ClinVar dbSNP
14g.24258324A>TCA389259463TGM1c.1363T>A (p.Trp455Arg)
c.37T>A (p.Trp13Arg)
c.436T>A (p.Trp146Arg)
14g.24258325C>ACA485783127TGM1c.1362G>T (p.Gly454=)
c.36G>T (p.Gly12=)
c.435G>T (p.Gly145=)
14g.24258325C=CA2123836508TGM1c.1362G= (p.Gly454=)
c.36G= (p.Gly12=)
c.435G= (p.Gly145=)
14g.24258325C>GCA485783128TGM1c.1362G>C (p.Gly454=)
c.36G>C (p.Gly12=)
c.435G>C (p.Gly145=)
14g.24258325C>TCA485783129TGM1c.1362G>A (p.Gly454=)
c.36G>A (p.Gly12=)
c.435G>A (p.Gly145=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.24258326C>ACA389259472TGM1c.1361G>T (p.Gly454Val)
c.35G>T (p.Gly12Val)
c.434G>T (p.Gly145Val)
14g.24258326C=CA2123836517TGM1c.1361G= (p.Gly454=)
c.35G= (p.Gly12=)
c.434G= (p.Gly145=)
14g.24258326C>GCA389259480TGM1c.1361G>C (p.Gly454Ala)
c.35G>C (p.Gly12Ala)
c.434G>C (p.Gly145Ala)
14g.24258326C>TCA389259485TGM1c.1361G>A (p.Gly454Glu)
c.35G>A (p.Gly12Glu)
c.434G>A (p.Gly145Glu)
 dbSNP gnomAD v2 gnomAD v4
14g.24258327C>ACA389259491TGM1c.1360G>T (p.Gly454Trp)
c.34G>T (p.Gly12Trp)
c.433G>T (p.Gly145Trp)
 gnomAD v4
14g.24258327C>GCA389259493TGM1c.1360G>C (p.Gly454Arg)
c.34G>C (p.Gly12Arg)
c.433G>C (p.Gly145Arg)
14g.24258327C>TCA389259494TGM1c.1360G>A (p.Gly454Arg)
c.34G>A (p.Gly12Arg)
c.433G>A (p.Gly145Arg)
14g.24258328A=CA2123836522TGM1c.1359T= (p.Asp453=)
c.33T= (p.Asp11=)
c.432T= (p.Asp144=)
14g.24258328A>CCA389259509TGM1c.1359T>G (p.Asp453Glu)
c.33T>G (p.Asp11Glu)
c.432T>G (p.Asp144Glu)
14g.24258328A>GCA7131107TGM1c.1359T>C (p.Asp453=)
c.33T>C (p.Asp11=)
c.432T>C (p.Asp144=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24258328A>TCA389259501TGM1c.1359T>A (p.Asp453Glu)
c.33T>A (p.Asp11Glu)
c.432T>A (p.Asp144Glu)
14g.24258329T>ACA389259514TGM1c.1358A>T (p.Asp453Val)
c.32A>T (p.Asp11Val)
c.431A>T (p.Asp144Val)
14g.24258329T>CCA389259511TGM1c.1358A>G (p.Asp453Gly)
c.32A>G (p.Asp11Gly)
c.431A>G (p.Asp144Gly)
14g.24258329T>GCA389259512TGM1c.1358A>C (p.Asp453Ala)
c.32A>C (p.Asp11Ala)
c.431A>C (p.Asp144Ala)
14g.24258330C>ACA389259517TGM1c.1357G>T (p.Asp453Tyr)
c.31G>T (p.Asp11Tyr)
c.430G>T (p.Asp144Tyr)
14g.24258330C>GCA389259521TGM1c.1357G>C (p.Asp453His)
c.31G>C (p.Asp11His)
c.430G>C (p.Asp144His)
14g.24258330C>TCA389259527TGM1c.1357G>A (p.Asp453Asn)
c.31G>A (p.Asp11Asn)
c.430G>A (p.Asp144Asn)
 gnomAD v4
14g.24258331A>CCA389259532TGM1c.1356T>G (p.Phe452Leu)
c.30T>G (p.Phe10Leu)
c.429T>G (p.Phe143Leu)
14g.24258331A>GCA485783139TGM1c.1356T>C (p.Phe452=)
c.30T>C (p.Phe10=)
c.429T>C (p.Phe143=)
14g.24258331A>TCA389259533TGM1c.1356T>A (p.Phe452Leu)
c.30T>A (p.Phe10Leu)
c.429T>A (p.Phe143Leu)
14g.24258332A>CCA389259537TGM1c.1355T>G (p.Phe452Cys)
c.29T>G (p.Phe10Cys)
c.428T>G (p.Phe143Cys)
14g.24258332A>GCA389259538TGM1c.1355T>C (p.Phe452Ser)
c.29T>C (p.Phe10Ser)
c.428T>C (p.Phe143Ser)
14g.24258332A>TCA389259541TGM1c.1355T>A (p.Phe452Tyr)
c.29T>A (p.Phe10Tyr)
c.428T>A (p.Phe143Tyr)
14g.24258333A>CCA389259546TGM1c.1354T>G (p.Phe452Val)
c.28T>G (p.Phe10Val)
c.427T>G (p.Phe143Val)
14g.24258333A>GCA389259550TGM1c.1354T>C (p.Phe452Leu)
c.28T>C (p.Phe10Leu)
c.427T>C (p.Phe143Leu)
14g.24258333A>TCA389259553TGM1c.1354T>A (p.Phe452Ile)
c.28T>A (p.Phe10Ile)
c.427T>A (p.Phe143Ile)
14g.24258334G>ACA257897677TGM1c.1353C>T (p.Gly451=)
c.27C>T (p.Gly9=)
c.426C>T (p.Gly142=)
 ClinVar dbSNP
14g.24258334G>CCA485783145TGM1c.1353C>G (p.Gly451=)
c.27C>G (p.Gly9=)
c.426C>G (p.Gly142=)
14g.24258334G=CA2123836526TGM1c.1353C= (p.Gly451=)
c.27C= (p.Gly9=)
c.426C= (p.Gly142=)
14g.24258334G>TCA485783146TGM1c.1353C>A (p.Gly451=)
c.27C>A (p.Gly9=)
c.426C>A (p.Gly142=)
14g.24258335C>ACA389259558TGM1c.1352G>T (p.Gly451Val)
c.26G>T (p.Gly9Val)
c.425G>T (p.Gly142Val)
14g.24258335C>GCA389259563TGM1c.1352G>C (p.Gly451Ala)
c.26G>C (p.Gly9Ala)
c.425G>C (p.Gly142Ala)
14g.24258335C>TCA389259562TGM1c.1352G>A (p.Gly451Asp)
c.26G>A (p.Gly9Asp)
c.425G>A (p.Gly142Asp)
14g.24258336C>ACA389259566TGM1c.1351G>T (p.Gly451Cys)
c.25G>T (p.Gly9Cys)
c.424G>T (p.Gly142Cys)
14g.24258336C>GCA389259569TGM1c.1351G>C (p.Gly451Arg)
c.25G>C (p.Gly9Arg)
c.424G>C (p.Gly142Arg)
14g.24258336C>TCA389259573TGM1c.1351G>A (p.Gly451Ser)
c.25G>A (p.Gly9Ser)
c.424G>A (p.Gly142Ser)
14g.24258337C>ACA485783150TGM1c.1350G>T (p.Ser450=)
c.24G>T (p.Ser8=)
c.423G>T (p.Ser141=)
14g.24258337C=CA2123836528TGM1c.1350G= (p.Ser450=)
c.24G= (p.Ser8=)
c.423G= (p.Ser141=)
14g.24258337C>GCA7131108TGM1c.1350G>C (p.Ser450=)
c.24G>C (p.Ser8=)
c.423G>C (p.Ser141=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24258337C>TCA7131109TGM1c.1350G>A (p.Ser450=)
c.24G>A (p.Ser8=)
c.423G>A (p.Ser141=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24258338G>ACA7131110TGM1c.1349C>T (p.Ser450Leu)
c.23C>T (p.Ser8Leu)
c.422C>T (p.Ser141Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24258338G>CCA389259592TGM1c.1349C>G (p.Ser450Trp)
c.23C>G (p.Ser8Trp)
c.422C>G (p.Ser141Trp)
 gnomAD v4
14g.24258338G=CA2123836535TGM1c.1349C= (p.Ser450=)
c.23C= (p.Ser8=)
c.422C= (p.Ser141=)
14g.24258338G>TCA389259594TGM1c.1349C>A (p.Ser450Ter)
c.23C>A (p.Ser8Ter)
c.422C>A (p.Ser141Ter)
14g.24258339A>CCA389259611TGM1c.1348T>G (p.Ser450Ala)
c.22T>G (p.Ser8Ala)
c.421T>G (p.Ser141Ala)
14g.24258339A>GCA389259620TGM1c.1348T>C (p.Ser450Pro)
c.22T>C (p.Ser8Pro)
c.421T>C (p.Ser141Pro)
14g.24258339A>TCA389259628TGM1c.1348T>A (p.Ser450Thr)
c.22T>A (p.Ser8Thr)
c.421T>A (p.Ser141Thr)
14g.24258340G>ACA485783156TGM1c.1347C>T (p.Pro449=)
c.21C>T (p.Pro7=)
c.420C>T (p.Pro140=)
14g.24258340G>CCA485783157TGM1c.1347C>G (p.Pro449=)
c.21C>G (p.Pro7=)
c.420C>G (p.Pro140=)
14g.24258340G>TCA485783159TGM1c.1347C>A (p.Pro449=)
c.21C>A (p.Pro7=)
c.420C>A (p.Pro140=)

Number of alleles fetched