Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.24255957G>ACA2624345683TGM1c.1491+32C>T (n.1491+32C>T)
c.165+32C>T (n.165+32C>T)
c.564+32C>T (n.564+32C>T)
 gnomAD v4
14g.24255957G>CCA612959131TGM1c.1491+32C>G (n.1491+32C>G)
c.165+32C>G (n.165+32C>G)
c.564+32C>G (n.564+32C>G)
 dbSNP gnomAD v2 gnomAD v4
14g.24255957G=CA2123832245TGM1c.1491+32C= (n.1491+32C=)
c.165+32C= (n.165+32C=)
c.564+32C= (n.564+32C=)
14g.24255957G>TCA2624345684TGM1c.1491+32C>A (n.1491+32C>A)
c.165+32C>A (n.165+32C>A)
c.564+32C>A (n.564+32C>A)
 gnomAD v4
14g.24255958C>ACA2624345685TGM1c.1491+31G>T (n.1491+31G>T)
c.165+31G>T (n.165+31G>T)
c.564+31G>T (n.564+31G>T)
 gnomAD v4
14g.24255958C=CA2123832249TGM1c.1491+31G= (n.1491+31G=)
c.165+31G= (n.165+31G=)
c.564+31G= (n.564+31G=)
14g.24255958C>TCA7131073TGM1c.1491+31G>A (n.1491+31G>A)
c.165+31G>A (n.165+31G>A)
c.564+31G>A (n.564+31G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.24255959C>ACA2624345686TGM1c.1491+30G>T (n.1491+30G>T)
c.165+30G>T (n.165+30G>T)
c.564+30G>T (n.564+30G>T)
 gnomAD v4
14g.24255959C>TCA2624345687TGM1c.1491+30G>A (n.1491+30G>A)
c.165+30G>A (n.165+30G>A)
c.564+30G>A (n.564+30G>A)
 gnomAD v4
14g.24255960C>ACA2624345688TGM1c.1491+29G>T (n.1491+29G>T)
c.165+29G>T (n.165+29G>T)
c.564+29G>T (n.564+29G>T)
 gnomAD v4
14g.24255960C>TCA2624345689TGM1c.1491+29G>A (n.1491+29G>A)
c.165+29G>A (n.165+29G>A)
c.564+29G>A (n.564+29G>A)
 gnomAD v4
14g.24255961A>CCA2511386269TGM1c.1491+28T>G (n.1491+28T>G)
c.165+28T>G (n.165+28T>G)
c.564+28T>G (n.564+28T>G)
14g.24255961A>GCA2624345690TGM1c.1491+28T>C (n.1491+28T>C)
c.165+28T>C (n.165+28T>C)
c.564+28T>C (n.564+28T>C)
 gnomAD v4
14g.24255962A=CA2123832252TGM1c.1491+27T= (n.1491+27T=)
c.165+27T= (n.165+27T=)
c.564+27T= (n.564+27T=)
14g.24255962A>GCA7131074TGM1c.1491+27T>C (n.1491+27T>C)
c.165+27T>C (n.165+27T>C)
c.564+27T>C (n.564+27T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24255963G>ACA961133266TGM1c.1491+26C>T (n.1491+26C>T)
c.165+26C>T (n.165+26C>T)
c.564+26C>T (n.564+26C>T)
 dbSNP gnomAD v3 gnomAD v4
14g.24255963G=CA2123832261TGM1c.1491+26C= (n.1491+26C=)
c.165+26C= (n.165+26C=)
c.564+26C= (n.564+26C=)
14g.24255963G>TCA2624345691TGM1c.1491+26C>A (n.1491+26C>A)
c.165+26C>A (n.165+26C>A)
c.564+26C>A (n.564+26C>A)
 gnomAD v4
14g.24255964A>GCA2624345693TGM1c.1491+25T>C (n.1491+25T>C)
c.165+25T>C (n.165+25T>C)
c.564+25T>C (n.564+25T>C)
 gnomAD v4
14g.24255965delCA2624345692TGM1c.1491+25del (n.1491+25del)
c.165+25del (n.165+25del)
c.564+25del (n.564+25del)
 gnomAD v4
14g.24255966G>ACA612959132TGM1c.1491+23C>T (n.1491+23C>T)
c.165+23C>T (n.165+23C>T)
c.564+23C>T (n.564+23C>T)
 dbSNP gnomAD v2
14g.24255966G=CA2123832267TGM1c.1491+23C= (n.1491+23C=)
c.165+23C= (n.165+23C=)
c.564+23C= (n.564+23C=)
14g.24255966G>TCA2624345694TGM1c.1491+23C>A (n.1491+23C>A)
c.165+23C>A (n.165+23C>A)
c.564+23C>A (n.564+23C>A)
 gnomAD v4
14g.24255967G>ACA7131075TGM1c.1491+22C>T (n.1491+22C>T)
c.165+22C>T (n.165+22C>T)
c.564+22C>T (n.564+22C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24255967G=CA2123832279TGM1c.1491+22C= (n.1491+22C=)
c.165+22C= (n.165+22C=)
c.564+22C= (n.564+22C=)
14g.24255967G>TCA2624345695TGM1c.1491+22C>A (n.1491+22C>A)
c.165+22C>A (n.165+22C>A)
c.564+22C>A (n.564+22C>A)
 gnomAD v4
14g.24255968C>TCA2624345696TGM1c.1491+21G>A (n.1491+21G>A)
c.165+21G>A (n.165+21G>A)
c.564+21G>A (n.564+21G>A)
 gnomAD v4
14g.24255969A>GCA2575493854TGM1c.1491+20T>C (n.1491+20T>C)
c.165+20T>C (n.165+20T>C)
c.564+20T>C (n.564+20T>C)
 gnomAD v4
14g.24255970C>ACA612959133TGM1c.1491+19G>T (n.1491+19G>T)
c.165+19G>T (n.165+19G>T)
c.564+19G>T (n.564+19G>T)
 dbSNP gnomAD v2 gnomAD v4
14g.24255970C=CA2123832286TGM1c.1491+19G= (n.1491+19G=)
c.165+19G= (n.165+19G=)
c.564+19G= (n.564+19G=)
14g.24255970C>TCA612959134TGM1c.1491+19G>A (n.1491+19G>A)
c.165+19G>A (n.165+19G>A)
c.564+19G>A (n.564+19G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24255971C>ACA2624345697TGM1c.1491+18G>T (n.1491+18G>T)
c.165+18G>T (n.165+18G>T)
c.564+18G>T (n.564+18G>T)
 gnomAD v4
14g.24255972T>CCA2624345698TGM1c.1491+17A>G (n.1491+17A>G)
c.165+17A>G (n.165+17A>G)
c.564+17A>G (n.564+17A>G)
 gnomAD v4
14g.24255973G>ACA2624345699TGM1c.1491+16C>T (n.1491+16C>T)
c.165+16C>T (n.165+16C>T)
c.564+16C>T (n.564+16C>T)
 gnomAD v4
14g.24255973G>TCA2624345700TGM1c.1491+16C>A (n.1491+16C>A)
c.165+16C>A (n.165+16C>A)
c.564+16C>A (n.564+16C>A)
 gnomAD v4
14g.24255974G>ACA7131076TGM1c.1491+15C>T (n.1491+15C>T)
c.165+15C>T (n.165+15C>T)
c.564+15C>T (n.564+15C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24255974G>CCA961133267TGM1c.1491+15C>G (n.1491+15C>G)
c.165+15C>G (n.165+15C>G)
c.564+15C>G (n.564+15C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.24255974G=CA2123832297TGM1c.1491+15C= (n.1491+15C=)
c.165+15C= (n.165+15C=)
c.564+15C= (n.564+15C=)
14g.24255974G>TCA2624345701TGM1c.1491+15C>A (n.1491+15C>A)
c.165+15C>A (n.165+15C>A)
c.564+15C>A (n.564+15C>A)
 gnomAD v4
14g.24255975A=CA2123832302TGM1c.1491+14T= (n.1491+14T=)
c.165+14T= (n.165+14T=)
c.564+14T= (n.564+14T=)
14g.24255975A>CCA2697553833TGM1c.1491+14T>G (n.1491+14T>G)
c.165+14T>G (n.165+14T>G)
c.564+14T>G (n.564+14T>G)
 ClinVar
14g.24255975A>GCA612959135TGM1c.1491+14T>C (n.1491+14T>C)
c.165+14T>C (n.165+14T>C)
c.564+14T>C (n.564+14T>C)
 dbSNP gnomAD v2 gnomAD v4
14g.24255975A>TCA2697553834TGM1c.1491+14T>A (n.1491+14T>A)
c.165+14T>A (n.165+14T>A)
c.564+14T>A (n.564+14T>A)
 ClinVar
14g.24255976G>ACA2624345702TGM1c.1491+13C>T (n.1491+13C>T)
c.165+13C>T (n.165+13C>T)
c.564+13C>T (n.564+13C>T)
 gnomAD v4
14g.24255976G>TCA2624345703TGM1c.1491+13C>A (n.1491+13C>A)
c.165+13C>A (n.165+13C>A)
c.564+13C>A (n.564+13C>A)
 gnomAD v4
14g.24255977C>ACA2624345704TGM1c.1491+12G>T (n.1491+12G>T)
c.165+12G>T (n.165+12G>T)
c.564+12G>T (n.564+12G>T)
 gnomAD v4
14g.24255977C=CA2123832310TGM1c.1491+12G= (n.1491+12G=)
c.165+12G= (n.165+12G=)
c.564+12G= (n.564+12G=)
14g.24255977C>GCA7131077TGM1c.1491+12G>C (n.1491+12G>C)
c.165+12G>C (n.165+12G>C)
c.564+12G>C (n.564+12G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.24255978C>ACA2624345705TGM1c.1491+11G>T (n.1491+11G>T)
c.165+11G>T (n.165+11G>T)
c.564+11G>T (n.564+11G>T)
 gnomAD v4
14g.24255978C>TCA2624345706TGM1c.1491+11G>A (n.1491+11G>A)
c.165+11G>A (n.165+11G>A)
c.564+11G>A (n.564+11G>A)
 gnomAD v4
14g.24255979C>ACA2624345707TGM1c.1491+10G>T (n.1491+10G>T)
c.165+10G>T (n.165+10G>T)
c.564+10G>T (n.564+10G>T)
 gnomAD v4
14g.24255979C>TCA2624345708TGM1c.1491+10G>A (n.1491+10G>A)
c.165+10G>A (n.165+10G>A)
c.564+10G>A (n.564+10G>A)
 ClinVar gnomAD v4
14g.24255981G>ACA2624345709TGM1c.1491+8C>T (n.1491+8C>T)
c.165+8C>T (n.165+8C>T)
c.564+8C>T (n.564+8C>T)
 gnomAD v4
14g.24255981G>TCA2624345710TGM1c.1491+8C>A (n.1491+8C>A)
c.165+8C>A (n.165+8C>A)
c.564+8C>A (n.564+8C>A)
 gnomAD v4
14g.24255982C>ACA2123832317TGM1c.1491+7G>T (n.1491+7G>T)
c.165+7G>T (n.165+7G>T)
c.564+7G>T (n.564+7G>T)
 ClinVar dbSNP gnomAD v4
14g.24255982C=CA2123832315TGM1c.1491+7G= (n.1491+7G=)
c.165+7G= (n.165+7G=)
c.564+7G= (n.564+7G=)
14g.24255982C>GCA2624345712TGM1c.1491+7G>C (n.1491+7G>C)
c.165+7G>C (n.165+7G>C)
c.564+7G>C (n.564+7G>C)
 gnomAD v4
14g.24255982C>TCA704350193TGM1c.1491+7G>A (n.1491+7G>A)
c.165+7G>A (n.165+7G>A)
c.564+7G>A (n.564+7G>A)
 dbSNP gnomAD v4
14g.24255984delCA2624345711TGM1c.1491+7del (n.1491+7del)
c.165+7del (n.165+7del)
c.564+7del (n.564+7del)
 gnomAD v4
14g.24255983C>ACA2624345713TGM1c.1491+6G>T (n.1491+6G>T)
c.165+6G>T (n.165+6G>T)
c.564+6G>T (n.564+6G>T)
 gnomAD v4
14g.24255983C=CA2123832321TGM1c.1491+6G= (n.1491+6G=)
c.165+6G= (n.165+6G=)
c.564+6G= (n.564+6G=)
14g.24255983C>TCA7131078TGM1c.1491+6G>A (n.1491+6G>A)
c.165+6G>A (n.165+6G>A)
c.564+6G>A (n.564+6G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24255984C>ACA2624345714TGM1c.1491+5G>T (n.1491+5G>T)
c.165+5G>T (n.165+5G>T)
c.564+5G>T (n.564+5G>T)
 gnomAD v4
14g.24255984C=CA2123832326TGM1c.1491+5G= (n.1491+5G=)
c.165+5G= (n.165+5G=)
c.564+5G= (n.564+5G=)
14g.24255984C>GCA2800897263TGM1c.1491+5G>C (n.1491+5G>C)
c.165+5G>C (n.165+5G>C)
c.564+5G>C (n.564+5G>C)
14g.24255984C>TCA612959136TGM1c.1491+5G>A (n.1491+5G>A)
c.165+5G>A (n.165+5G>A)
c.564+5G>A (n.564+5G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24255985T>ACA2624345715TGM1c.1491+4A>T (n.1491+4A>T)
c.165+4A>T (n.165+4A>T)
c.564+4A>T (n.564+4A>T)
 gnomAD v4
14g.24255986C>ACA2624345716TGM1c.1491+3G>T (n.1491+3G>T)
c.165+3G>T (n.165+3G>T)
c.564+3G>T (n.564+3G>T)
 gnomAD v4
14g.24255986C=CA2123832331TGM1c.1491+3G= (n.1491+3G=)
c.165+3G= (n.165+3G=)
c.564+3G= (n.564+3G=)
14g.24255986C>TCA2123832334TGM1c.1491+3G>A (n.1491+3G>A)
c.165+3G>A (n.165+3G>A)
c.564+3G>A (n.564+3G>A)
 dbSNP gnomAD v4
14g.24255987A=CA2123832336TGM1c.1491+2T= (n.1491+2T=)
c.165+2T= (n.165+2T=)
c.564+2T= (n.564+2T=)
14g.24255987A>CCA389255510TGM1c.1491+2T>G (n.1491+2T>G)
c.165+2T>G (n.165+2T>G)
c.564+2T>G (n.564+2T>G)
14g.24255987A>GCA389255493TGM1c.1491+2T>C (n.1491+2T>C)
c.165+2T>C (n.165+2T>C)
c.564+2T>C (n.564+2T>C)
 dbSNP gnomAD v2 gnomAD v4
14g.24255987A>TCA389255506TGM1c.1491+2T>A (n.1491+2T>A)
c.165+2T>A (n.165+2T>A)
c.564+2T>A (n.564+2T>A)
14g.24255988C>ACA389255522TGM1c.1491+1G>T (n.1491+1G>T)
c.165+1G>T (n.165+1G>T)
c.564+1G>T (n.564+1G>T)
 ClinVar
14g.24255988C>GCA389255524TGM1c.1491+1G>C (n.1491+1G>C)
c.165+1G>C (n.165+1G>C)
c.564+1G>C (n.564+1G>C)
 ClinVar
14g.24255988C>TCA389255536TGM1c.1491+1G>A (n.1491+1G>A)
c.165+1G>A (n.165+1G>A)
c.564+1G>A (n.564+1G>A)
14g.24255989C>ACA389255542TGM1c.1491G>T (p.Glu497Asp)
c.165G>T (p.Glu55Asp)
c.564G>T (p.Glu188Asp)
 gnomAD v4
14g.24255989C=CA2123832343TGM1c.1491G= (p.Glu497=)
c.165G= (p.Glu55=)
c.564G= (p.Glu188=)
14g.24255989C>GCA389255543TGM1c.1491G>C (p.Glu497Asp)
c.165G>C (p.Glu55Asp)
c.564G>C (p.Glu188Asp)
14g.24255989C>TCA485663598TGM1c.1491G>A (p.Glu497=)
c.165G>A (p.Glu55=)
c.564G>A (p.Glu188=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.24255990T>ACA389255544TGM1c.1490A>T (p.Glu497Val)
c.164A>T (p.Glu55Val)
c.563A>T (p.Glu188Val)
 gnomAD v4
14g.24255990T>CCA389255550TGM1c.1490A>G (p.Glu497Gly)
c.164A>G (p.Glu55Gly)
c.563A>G (p.Glu188Gly)
 gnomAD v4
14g.24255990T>GCA389255545TGM1c.1490A>C (p.Glu497Ala)
c.164A>C (p.Glu55Ala)
c.563A>C (p.Glu188Ala)
14g.24255991C>ACA257893753TGM1c.1489G>T (p.Glu497Ter)
c.163G>T (p.Glu55Ter)
c.562G>T (p.Glu188Ter)
 dbSNP gnomAD v4
14g.24255991C=CA2123832352TGM1c.1489G= (p.Glu497=)
c.163G= (p.Glu55=)
c.562G= (p.Glu188=)
14g.24255991C>GCA389255562TGM1c.1489G>C (p.Glu497Gln)
c.163G>C (p.Glu55Gln)
c.562G>C (p.Glu188Gln)
 gnomAD v4
14g.24255991C>TCA389255565TGM1c.1489G>A (p.Glu497Lys)
c.163G>A (p.Glu55Lys)
c.562G>A (p.Glu188Lys)
14g.24255991delinsGTCA2580087959TGM1c.1489delinsAC (p.Glu497ThrfsTer4)
c.163delinsAC (p.Glu55ThrfsTer4)
c.562delinsAC (p.Glu188ThrfsTer4)
 ClinVar
14g.24255992A>CCA485663599TGM1c.1488T>G (p.Ala496=)
c.162T>G (p.Ala54=)
c.561T>G (p.Ala187=)
 ClinVar gnomAD v4
14g.24255992A>GCA485663600TGM1c.1488T>C (p.Ala496=)
c.162T>C (p.Ala54=)
c.561T>C (p.Ala187=)
 gnomAD v4
14g.24255992A>TCA485663601TGM1c.1488T>A (p.Ala496=)
c.162T>A (p.Ala54=)
c.561T>A (p.Ala187=)
14g.24255993G>ACA389255570TGM1c.1487C>T (p.Ala496Val)
c.161C>T (p.Ala54Val)
c.560C>T (p.Ala187Val)
 gnomAD v4
14g.24255993G>CCA389255572TGM1c.1487C>G (p.Ala496Gly)
c.161C>G (p.Ala54Gly)
c.560C>G (p.Ala187Gly)
14g.24255993G>TCA389255589TGM1c.1487C>A (p.Ala496Asp)
c.161C>A (p.Ala54Asp)
c.560C>A (p.Ala187Asp)
 gnomAD v4
14g.24255994C>ACA257893758TGM1c.1486G>T (p.Ala496Ser)
c.160G>T (p.Ala54Ser)
c.559G>T (p.Ala187Ser)
 dbSNP gnomAD v4
14g.24255994C=CA2123832360TGM1c.1486G= (p.Ala496=)
c.160G= (p.Ala54=)
c.559G= (p.Ala187=)
14g.24255994C>GCA389255603TGM1c.1486G>C (p.Ala496Pro)
c.160G>C (p.Ala54Pro)
c.559G>C (p.Ala187Pro)
14g.24255994C>TCA389255612TGM1c.1486G>A (p.Ala496Thr)
c.160G>A (p.Ala54Thr)
c.559G>A (p.Ala187Thr)
14g.24255995A>CCA389255618TGM1c.1485T>G (p.Phe495Leu)
c.159T>G (p.Phe53Leu)
c.558T>G (p.Phe186Leu)
14g.24255995A>GCA485663602TGM1c.1485T>C (p.Phe495=)
c.159T>C (p.Phe53=)
c.558T>C (p.Phe186=)
 gnomAD v4
14g.24255995A>TCA389255635TGM1c.1485T>A (p.Phe495Leu)
c.159T>A (p.Phe53Leu)
c.558T>A (p.Phe186Leu)
14g.24255996A>CCA389255649TGM1c.1484T>G (p.Phe495Cys)
c.158T>G (p.Phe53Cys)
c.557T>G (p.Phe186Cys)
14g.24255996A>GCA389255651TGM1c.1484T>C (p.Phe495Ser)
c.158T>C (p.Phe53Ser)
c.557T>C (p.Phe186Ser)
 gnomAD v4
14g.24255996A>TCA389255647TGM1c.1484T>A (p.Phe495Tyr)
c.158T>A (p.Phe53Tyr)
c.557T>A (p.Phe186Tyr)
14g.24255997A>CCA389255685TGM1c.1483T>G (p.Phe495Val)
c.157T>G (p.Phe53Val)
c.556T>G (p.Phe186Val)
14g.24255997A>GCA389255707TGM1c.1483T>C (p.Phe495Leu)
c.157T>C (p.Phe53Leu)
c.556T>C (p.Phe186Leu)
 gnomAD v4
14g.24255997A>TCA389255704TGM1c.1483T>A (p.Phe495Ile)
c.157T>A (p.Phe53Ile)
c.556T>A (p.Phe186Ile)
14g.24255998A>CCA389255715TGM1c.1482T>G (p.Ile494Met)
c.156T>G (p.Ile52Met)
c.555T>G (p.Ile185Met)
14g.24255998A>GCA485663603TGM1c.1482T>C (p.Ile494=)
c.156T>C (p.Ile52=)
c.555T>C (p.Ile185=)
14g.24255998A>TCA485663604TGM1c.1482T>A (p.Ile494=)
c.156T>A (p.Ile52=)
c.555T>A (p.Ile185=)
14g.24255999A>CCA389255740TGM1c.1481T>G (p.Ile494Ser)
c.155T>G (p.Ile52Ser)
c.554T>G (p.Ile185Ser)
14g.24255999A>GCA389255732TGM1c.1481T>C (p.Ile494Thr)
c.155T>C (p.Ile52Thr)
c.554T>C (p.Ile185Thr)
14g.24255999A>TCA389255745TGM1c.1481T>A (p.Ile494Asn)
c.155T>A (p.Ile52Asn)
c.554T>A (p.Ile185Asn)
14g.24256000T>ACA389255753TGM1c.1480A>T (p.Ile494Phe)
c.154A>T (p.Ile52Phe)
c.553A>T (p.Ile185Phe)
14g.24256000T>CCA389255765TGM1c.1480A>G (p.Ile494Val)
c.154A>G (p.Ile52Val)
c.553A>G (p.Ile185Val)
14g.24256000T>GCA389255770TGM1c.1480A>C (p.Ile494Leu)
c.154A>C (p.Ile52Leu)
c.553A>C (p.Ile185Leu)
14g.24256001G>ACA485663605TGM1c.1479C>T (p.Phe493=)
c.153C>T (p.Phe51=)
c.552C>T (p.Phe184=)
 gnomAD v4
14g.24256001G>CCA389255772TGM1c.1479C>G (p.Phe493Leu)
c.153C>G (p.Phe51Leu)
c.552C>G (p.Phe184Leu)
14g.24256001G=CA2123832366TGM1c.1479C= (p.Phe493=)
c.153C= (p.Phe51=)
c.552C= (p.Phe184=)
14g.24256001G>TCA389255773TGM1c.1479C>A (p.Phe493Leu)
c.153C>A (p.Phe51Leu)
c.552C>A (p.Phe184Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24256002A>CCA389255783TGM1c.1478T>G (p.Phe493Cys)
c.152T>G (p.Phe51Cys)
c.551T>G (p.Phe184Cys)
14g.24256002A>GCA389255780TGM1c.1478T>C (p.Phe493Ser)
c.152T>C (p.Phe51Ser)
c.551T>C (p.Phe184Ser)
14g.24256002A>TCA389255776TGM1c.1478T>A (p.Phe493Tyr)
c.152T>A (p.Phe51Tyr)
c.551T>A (p.Phe184Tyr)
14g.24256004delCA2624345717TGM1c.1478del (p.Phe493SerfsTer6)
c.152del (p.Phe51SerfsTer6)
c.551del (p.Phe184SerfsTer6)
 gnomAD v4
14g.24256003A>CCA389255786TGM1c.1477T>G (p.Phe493Val)
c.151T>G (p.Phe51Val)
c.550T>G (p.Phe184Val)
14g.24256003A>GCA389255787TGM1c.1477T>C (p.Phe493Leu)
c.151T>C (p.Phe51Leu)
c.550T>C (p.Phe184Leu)
 gnomAD v4
14g.24256003A>TCA389255790TGM1c.1477T>A (p.Phe493Ile)
c.151T>A (p.Phe51Ile)
c.550T>A (p.Phe184Ile)
 gnomAD v4
14g.24256004A>CCA485663606TGM1c.1476T>G (p.Pro492=)
c.150T>G (p.Pro50=)
c.549T>G (p.Pro183=)
 gnomAD v4
14g.24256004A>GCA485663607TGM1c.1476T>C (p.Pro492=)
c.150T>C (p.Pro50=)
c.549T>C (p.Pro183=)
 gnomAD v4
14g.24256004A>TCA485663608TGM1c.1476T>A (p.Pro492=)
c.150T>A (p.Pro50=)
c.549T>A (p.Pro183=)
 gnomAD v4
14g.24256005G>ACA389255792TGM1c.1475C>T (p.Pro492Leu)
c.149C>T (p.Pro50Leu)
c.548C>T (p.Pro183Leu)
 gnomAD v4
14g.24256005G>CCA389255793TGM1c.1475C>G (p.Pro492Arg)
c.149C>G (p.Pro50Arg)
c.548C>G (p.Pro183Arg)
 gnomAD v4
14g.24256005G>TCA389255794TGM1c.1475C>A (p.Pro492His)
c.149C>A (p.Pro50His)
c.548C>A (p.Pro183His)
 gnomAD v4
14g.24256006G>ACA389255829TGM1c.1474C>T (p.Pro492Ser)
c.148C>T (p.Pro50Ser)
c.547C>T (p.Pro183Ser)
 dbSNP gnomAD v2
14g.24256006G>CCA389255801TGM1c.1474C>G (p.Pro492Ala)
c.148C>G (p.Pro50Ala)
c.547C>G (p.Pro183Ala)
14g.24256006G=CA2123832371TGM1c.1474C= (p.Pro492=)
c.148C= (p.Pro50=)
c.547C= (p.Pro183=)
14g.24256006G>TCA389255804TGM1c.1474C>A (p.Pro492Thr)
c.148C>A (p.Pro50Thr)
c.547C>A (p.Pro183Thr)
 gnomAD v4
14g.24256007C>ACA485663609TGM1c.1473G>T (p.Thr491=)
c.147G>T (p.Thr49=)
c.546G>T (p.Thr182=)
 gnomAD v4
14g.24256007C=CA2123832381TGM1c.1473G= (p.Thr491=)
c.147G= (p.Thr49=)
c.546G= (p.Thr182=)
14g.24256007C>GCA485663610TGM1c.1473G>C (p.Thr491=)
c.147G>C (p.Thr49=)
c.546G>C (p.Thr182=)
14g.24256007C>TCA7131079TGM1c.1473G>A (p.Thr491=)
c.147G>A (p.Thr49=)
c.546G>A (p.Thr182=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24256008G>ACA389255859TGM1c.1472C>T (p.Thr491Met)
c.146C>T (p.Thr49Met)
c.545C>T (p.Thr182Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.24256008G>CCA389255861TGM1c.1472C>G (p.Thr491Arg)
c.146C>G (p.Thr49Arg)
c.545C>G (p.Thr182Arg)
14g.24256008G=CA2123832387TGM1c.1472C= (p.Thr491=)
c.146C= (p.Thr49=)
c.545C= (p.Thr182=)
14g.24256008G>TCA389255862TGM1c.1472C>A (p.Thr491Lys)
c.146C>A (p.Thr49Lys)
c.545C>A (p.Thr182Lys)
 gnomAD v4
14g.24256009T>ACA389255865TGM1c.1471A>T (p.Thr491Ser)
c.145A>T (p.Thr49Ser)
c.544A>T (p.Thr182Ser)
14g.24256009T>CCA389255868TGM1c.1471A>G (p.Thr491Ala)
c.145A>G (p.Thr49Ala)
c.544A>G (p.Thr182Ala)
 COSMIC
14g.24256009T>GCA389255869TGM1c.1471A>C (p.Thr491Pro)
c.145A>C (p.Thr49Pro)
c.544A>C (p.Thr182Pro)
14g.24256010G>ACA485663611TGM1c.1470C>T (p.Asp490=)
c.144C>T (p.Asp48=)
c.543C>T (p.Asp181=)
 dbSNP gnomAD v4
14g.24256010G>CCA389255874TGM1c.1470C>G (p.Asp490Glu)
c.144C>G (p.Asp48Glu)
c.543C>G (p.Asp181Glu)
14g.24256010G=CA2123832389TGM1c.1470C= (p.Asp490=)
c.144C= (p.Asp48=)
c.543C= (p.Asp181=)
14g.24256010G>TCA389255898TGM1c.1470C>A (p.Asp490Glu)
c.144C>A (p.Asp48Glu)
c.543C>A (p.Asp181Glu)
 gnomAD v4
14g.24256011T>ACA389255901TGM1c.1469A>T (p.Asp490Val)
c.143A>T (p.Asp48Val)
c.542A>T (p.Asp181Val)
 gnomAD v4
14g.24256011T>CCA256468TGM1c.1469A>G (p.Asp490Gly)
c.143A>G (p.Asp48Gly)
c.542A>G (p.Asp181Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24256011T>GCA389255913TGM1c.1469A>C (p.Asp490Ala)
c.143A>C (p.Asp48Ala)
c.542A>C (p.Asp181Ala)
14g.24256011T=CA2123832400TGM1c.1469A= (p.Asp490=)
c.143A= (p.Asp48=)
c.542A= (p.Asp181=)
14g.24256012C>ACA257893767TGM1c.1468G>T (p.Asp490Tyr)
c.142G>T (p.Asp48Tyr)
c.541G>T (p.Asp181Tyr)
 dbSNP gnomAD v4
14g.24256012C=CA2123832412TGM1c.1468G= (p.Asp490=)
c.142G= (p.Asp48=)
c.541G= (p.Asp181=)
14g.24256012C>GCA389255949TGM1c.1468G>C (p.Asp490His)
c.142G>C (p.Asp48His)
c.541G>C (p.Asp181His)
14g.24256012C>TCA389255943TGM1c.1468G>A (p.Asp490Asn)
c.142G>A (p.Asp48Asn)
c.541G>A (p.Asp181Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24256013G>ACA7131080TGM1c.1467C>T (p.Tyr489=)
c.141C>T (p.Tyr47=)
c.540C>T (p.Tyr180=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24256013G>CCA389255969TGM1c.1467C>G (p.Tyr489Ter)
c.141C>G (p.Tyr47Ter)
c.540C>G (p.Tyr180Ter)
14g.24256013G=CA2123832418TGM1c.1467C= (p.Tyr489=)
c.141C= (p.Tyr47=)
c.540C= (p.Tyr180=)
14g.24256013G>TCA389255993TGM1c.1467C>A (p.Tyr489Ter)
c.141C>A (p.Tyr47Ter)
c.540C>A (p.Tyr180Ter)
 gnomAD v4
14g.24256014T>ACA389255996TGM1c.1466A>T (p.Tyr489Phe)
c.140A>T (p.Tyr47Phe)
c.539A>T (p.Tyr180Phe)
14g.24256014T>CCA389255997TGM1c.1466A>G (p.Tyr489Cys)
c.140A>G (p.Tyr47Cys)
c.539A>G (p.Tyr180Cys)
14g.24256014T>GCA389255998TGM1c.1466A>C (p.Tyr489Ser)
c.140A>C (p.Tyr47Ser)
c.539A>C (p.Tyr180Ser)
14g.24256015A>CCA389256001TGM1c.1465T>G (p.Tyr489Asp)
c.139T>G (p.Tyr47Asp)
c.538T>G (p.Tyr180Asp)
14g.24256015A>GCA389256009TGM1c.1465T>C (p.Tyr489His)
c.139T>C (p.Tyr47His)
c.538T>C (p.Tyr180His)
14g.24256015A>TCA389256025TGM1c.1465T>A (p.Tyr489Asn)
c.139T>A (p.Tyr47Asn)
c.538T>A (p.Tyr180Asn)
14g.24256016C>ACA389256029TGM1c.1464G>T (p.Lys488Asn)
c.138G>T (p.Lys46Asn)
c.537G>T (p.Lys179Asn)
 gnomAD v4
14g.24256016C=CA2123832426TGM1c.1464G= (p.Lys488=)
c.138G= (p.Lys46=)
c.537G= (p.Lys179=)
14g.24256016C>GCA389256050TGM1c.1464G>C (p.Lys488Asn)
c.138G>C (p.Lys46Asn)
c.537G>C (p.Lys179Asn)
14g.24256016C>TCA485663612TGM1c.1464G>A (p.Lys488=)
c.138G>A (p.Lys46=)
c.537G>A (p.Lys179=)
 dbSNP gnomAD v2 gnomAD v4
14g.24256017T>ACA389256058TGM1c.1463A>T (p.Lys488Met)
c.137A>T (p.Lys46Met)
c.536A>T (p.Lys179Met)
14g.24256017T>CCA389256057TGM1c.1463A>G (p.Lys488Arg)
c.137A>G (p.Lys46Arg)
c.536A>G (p.Lys179Arg)
 gnomAD v4
14g.24256017T>GCA389256056TGM1c.1463A>C (p.Lys488Thr)
c.137A>C (p.Lys46Thr)
c.536A>C (p.Lys179Thr)
14g.24256018T>ACA389256061TGM1c.1462A>T (p.Lys488Ter)
c.136A>T (p.Lys46Ter)
c.535A>T (p.Lys179Ter)
14g.24256018T>CCA389256063TGM1c.1462A>G (p.Lys488Glu)
c.136A>G (p.Lys46Glu)
c.535A>G (p.Lys179Glu)
14g.24256018T>GCA389256065TGM1c.1462A>C (p.Lys488Gln)
c.136A>C (p.Lys46Gln)
c.535A>C (p.Lys179Gln)
14g.24256019C>ACA389256074TGM1c.1461G>T (p.Met487Ile)
c.135G>T (p.Met45Ile)
c.534G>T (p.Met178Ile)
 gnomAD v4
14g.24256019C>GCA389256075TGM1c.1461G>C (p.Met487Ile)
c.135G>C (p.Met45Ile)
c.534G>C (p.Met178Ile)
 gnomAD v4
14g.24256019C>TCA389256079TGM1c.1461G>A (p.Met487Ile)
c.135G>A (p.Met45Ile)
c.534G>A (p.Met178Ile)
 gnomAD v4
14g.24256020A>CCA389256084TGM1c.1460T>G (p.Met487Arg)
c.134T>G (p.Met45Arg)
c.533T>G (p.Met178Arg)
 gnomAD v4
14g.24256020A>GCA389256085TGM1c.1460T>C (p.Met487Thr)
c.134T>C (p.Met45Thr)
c.533T>C (p.Met178Thr)
 gnomAD v4
14g.24256020A>TCA389256086TGM1c.1460T>A (p.Met487Lys)
c.134T>A (p.Met45Lys)
c.533T>A (p.Met178Lys)
14g.24256021T>ACA389256087TGM1c.1459A>T (p.Met487Leu)
c.133A>T (p.Met45Leu)
c.532A>T (p.Met178Leu)
 gnomAD v4
14g.24256021T>CCA389256092TGM1c.1459A>G (p.Met487Val)
c.133A>G (p.Met45Val)
c.532A>G (p.Met178Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24256021T>GCA389256100TGM1c.1459A>C (p.Met487Leu)
c.133A>C (p.Met45Leu)
c.532A>C (p.Met178Leu)
14g.24256021T=CA2123832434TGM1c.1459A= (p.Met487=)
c.133A= (p.Met45=)
c.532A= (p.Met178=)
14g.24256022G>ACA485663613TGM1c.1458C>T (p.Tyr486=)
c.132C>T (p.Tyr44=)
c.531C>T (p.Tyr177=)
 gnomAD v4 COSMIC
14g.24256022G>CCA389256104TGM1c.1458C>G (p.Tyr486Ter)
c.132C>G (p.Tyr44Ter)
c.531C>G (p.Tyr177Ter)
 gnomAD v4
14g.24256022G>TCA389256107TGM1c.1458C>A (p.Tyr486Ter)
c.132C>A (p.Tyr44Ter)
c.531C>A (p.Tyr177Ter)
 gnomAD v4
14g.24256023T>ACA389256118TGM1c.1457A>T (p.Tyr486Phe)
c.131A>T (p.Tyr44Phe)
c.530A>T (p.Tyr177Phe)
 gnomAD v4
14g.24256023T>CCA389256131TGM1c.1457A>G (p.Tyr486Cys)
c.131A>G (p.Tyr44Cys)
c.530A>G (p.Tyr177Cys)
14g.24256023T>GCA389256126TGM1c.1457A>C (p.Tyr486Ser)
c.131A>C (p.Tyr44Ser)
c.530A>C (p.Tyr177Ser)
14g.24256024A>CCA389256136TGM1c.1456T>G (p.Tyr486Asp)
c.130T>G (p.Tyr44Asp)
c.529T>G (p.Tyr177Asp)
14g.24256024A>GCA389256137TGM1c.1456T>C (p.Tyr486His)
c.130T>C (p.Tyr44His)
c.529T>C (p.Tyr177His)
 gnomAD v4
14g.24256024A>TCA389256138TGM1c.1456T>A (p.Tyr486Asn)
c.130T>A (p.Tyr44Asn)
c.529T>A (p.Tyr177Asn)
14g.24256025G>ACA485663614TGM1c.1455C>T (p.Val485=)
c.129C>T (p.Val43=)
c.528C>T (p.Val176=)
 gnomAD v4
14g.24256025G>CCA485663615TGM1c.1455C>G (p.Val485=)
c.129C>G (p.Val43=)
c.528C>G (p.Val176=)
14g.24256025G>TCA485663616TGM1c.1455C>A (p.Val485=)
c.129C>A (p.Val43=)
c.528C>A (p.Val176=)
 gnomAD v4
14g.24256026A>CCA389256162TGM1c.1454T>G (p.Val485Gly)
c.128T>G (p.Val43Gly)
c.527T>G (p.Val176Gly)
14g.24256026A>GCA389256194TGM1c.1454T>C (p.Val485Ala)
c.128T>C (p.Val43Ala)
c.527T>C (p.Val176Ala)
 gnomAD v4
14g.24256026A>TCA389256206TGM1c.1454T>A (p.Val485Asp)
c.128T>A (p.Val43Asp)
c.527T>A (p.Val176Asp)
 gnomAD v4
14g.24256027C>ACA389256230TGM1c.1453G>T (p.Val485Phe)
c.127G>T (p.Val43Phe)
c.526G>T (p.Val176Phe)
 gnomAD v4
14g.24256027C>GCA389256237TGM1c.1453G>C (p.Val485Leu)
c.127G>C (p.Val43Leu)
c.526G>C (p.Val176Leu)
 gnomAD v4
14g.24256027C>TCA389256244TGM1c.1453G>A (p.Val485Ile)
c.127G>A (p.Val43Ile)
c.526G>A (p.Val176Ile)
14g.24256028C>ACA7131081TGM1c.1452G>T (p.Leu484=)
c.126G>T (p.Leu42=)
c.525G>T (p.Leu175=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24256028C=CA2123832438TGM1c.1452G= (p.Leu484=)
c.126G= (p.Leu42=)
c.525G= (p.Leu175=)
14g.24256028C>GCA257893811TGM1c.1452G>C (p.Leu484=)
c.126G>C (p.Leu42=)
c.525G>C (p.Leu175=)
 dbSNP
14g.24256028C>TCA485663617TGM1c.1452G>A (p.Leu484=)
c.126G>A (p.Leu42=)
c.525G>A (p.Leu175=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.24256029A>CCA389256258TGM1c.1451T>G (p.Leu484Arg)
c.125T>G (p.Leu42Arg)
c.524T>G (p.Leu175Arg)
14g.24256029A>GCA389256256TGM1c.1451T>C (p.Leu484Pro)
c.125T>C (p.Leu42Pro)
c.524T>C (p.Leu175Pro)
 gnomAD v4
14g.24256029A>TCA389256254TGM1c.1451T>A (p.Leu484Gln)
c.125T>A (p.Leu42Gln)
c.524T>A (p.Leu175Gln)
14g.24256030G>ACA485663618TGM1c.1450C>T (p.Leu484=)
c.124C>T (p.Leu42=)
c.523C>T (p.Leu175=)
14g.24256030G>CCA389256261TGM1c.1450C>G (p.Leu484Val)
c.124C>G (p.Leu42Val)
c.523C>G (p.Leu175Val)
 gnomAD v4
14g.24256030G>TCA389256315TGM1c.1450C>A (p.Leu484Met)
c.124C>A (p.Leu42Met)
c.523C>A (p.Leu175Met)
 gnomAD v4
14g.24256031G>ACA485663619TGM1c.1449C>T (p.Gly483=)
c.123C>T (p.Gly41=)
c.522C>T (p.Gly174=)
 gnomAD v4
14g.24256031G>CCA257893812TGM1c.1449C>G (p.Gly483=)
c.123C>G (p.Gly41=)
c.522C>G (p.Gly174=)
 dbSNP
14g.24256031G=CA2123832443TGM1c.1449C= (p.Gly483=)
c.123C= (p.Gly41=)
c.522C= (p.Gly174=)
14g.24256031G>TCA485663620TGM1c.1449C>A (p.Gly483=)
c.123C>A (p.Gly41=)
c.522C>A (p.Gly174=)
 gnomAD v4
14g.24256032C>ACA389256337TGM1c.1448G>T (p.Gly483Val)
c.122G>T (p.Gly41Val)
c.521G>T (p.Gly174Val)
 gnomAD v4
14g.24256032C=CA2123832449TGM1c.1448G= (p.Gly483=)
c.122G= (p.Gly41=)
c.521G= (p.Gly174=)
14g.24256032C>GCA389256339TGM1c.1448G>C (p.Gly483Ala)
c.122G>C (p.Gly41Ala)
c.521G>C (p.Gly174Ala)
 dbSNP
14g.24256032C>TCA389256343TGM1c.1448G>A (p.Gly483Asp)
c.122G>A (p.Gly41Asp)
c.521G>A (p.Gly174Asp)
 dbSNP gnomAD v2 gnomAD v4
14g.24256033delCA2624345718TGM1c.1448del (p.Gly483AlafsTer5)
c.122del (p.Gly41AlafsTer5)
c.521del (p.Gly174AlafsTer5)
 gnomAD v4
14g.24256033C>ACA389256355TGM1c.1447G>T (p.Gly483Cys)
c.121G>T (p.Gly41Cys)
c.520G>T (p.Gly174Cys)
 gnomAD v4
14g.24256033C=CA2123832454TGM1c.1447G= (p.Gly483=)
c.121G= (p.Gly41=)
c.520G= (p.Gly174=)
14g.24256033C>GCA389256358TGM1c.1447G>C (p.Gly483Arg)
c.121G>C (p.Gly41Arg)
c.520G>C (p.Gly174Arg)
 dbSNP
14g.24256033C>TCA389256361TGM1c.1447G>A (p.Gly483Ser)
c.121G>A (p.Gly41Ser)
c.520G>A (p.Gly174Ser)
 gnomAD v4
14g.24256034A>CCA389256362TGM1c.1446T>G (p.Asn482Lys)
c.120T>G (p.Asn40Lys)
c.519T>G (p.Asn173Lys)
14g.24256034A>GCA485663621TGM1c.1446T>C (p.Asn482=)
c.120T>C (p.Asn40=)
c.519T>C (p.Asn173=)
 gnomAD v4
14g.24256034A>TCA389256370TGM1c.1446T>A (p.Asn482Lys)
c.120T>A (p.Asn40Lys)
c.519T>A (p.Asn173Lys)
 gnomAD v4
14g.24256035T>ACA389256400TGM1c.1445A>T (p.Asn482Ile)
c.119A>T (p.Asn40Ile)
c.518A>T (p.Asn173Ile)
14g.24256035T>CCA257893813TGM1c.1445A>G (p.Asn482Ser)
c.119A>G (p.Asn40Ser)
c.518A>G (p.Asn173Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24256035T>GCA389256388TGM1c.1445A>C (p.Asn482Thr)
c.119A>C (p.Asn40Thr)
c.518A>C (p.Asn173Thr)
14g.24256035T=CA2123832463TGM1c.1445A= (p.Asn482=)
c.119A= (p.Asn40=)
c.518A= (p.Asn173=)
14g.24256036T>ACA389256410TGM1c.1444A>T (p.Asn482Tyr)
c.118A>T (p.Asn40Tyr)
c.517A>T (p.Asn173Tyr)
14g.24256036T>CCA7131082TGM1c.1444A>G (p.Asn482Asp)
c.118A>G (p.Asn40Asp)
c.517A>G (p.Asn173Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.24256036T>GCA389256423TGM1c.1444A>C (p.Asn482His)
c.118A>C (p.Asn40His)
c.517A>C (p.Asn173His)
14g.24256036T=CA2123832474TGM1c.1444A= (p.Asn482=)
c.118A= (p.Asn40=)
c.517A= (p.Asn173=)
14g.24256037C>ACA389256432TGM1c.1443G>T (p.Lys481Asn)
c.117G>T (p.Lys39Asn)
c.516G>T (p.Lys172Asn)
 gnomAD v4
14g.24256037C>GCA389256434TGM1c.1443G>C (p.Lys481Asn)
c.117G>C (p.Lys39Asn)
c.516G>C (p.Lys172Asn)
 gnomAD v4
14g.24256037C>TCA485663622TGM1c.1443G>A (p.Lys481=)
c.117G>A (p.Lys39=)
c.516G>A (p.Lys172=)
 ClinVar dbSNP gnomAD v4
14g.24256038T>ACA389256440TGM1c.1442A>T (p.Lys481Met)
c.116A>T (p.Lys39Met)
c.515A>T (p.Lys172Met)
 gnomAD v4
14g.24256038T>CCA389256442TGM1c.1442A>G (p.Lys481Arg)
c.116A>G (p.Lys39Arg)
c.515A>G (p.Lys172Arg)
 dbSNP gnomAD v2 gnomAD v4
14g.24256038T>GCA389256443TGM1c.1442A>C (p.Lys481Thr)
c.116A>C (p.Lys39Thr)
c.515A>C (p.Lys172Thr)
14g.24256038T=CA2123832483TGM1c.1442A= (p.Lys481=)
c.116A= (p.Lys39=)
c.515A= (p.Lys172=)
14g.24256039T>ACA389256445TGM1c.1441A>T (p.Lys481Ter)
c.115A>T (p.Lys39Ter)
c.514A>T (p.Lys172Ter)
14g.24256039T>CCA389256447TGM1c.1441A>G (p.Lys481Glu)
c.115A>G (p.Lys39Glu)
c.514A>G (p.Lys172Glu)
 gnomAD v4
14g.24256039T>GCA389256453TGM1c.1441A>C (p.Lys481Gln)
c.115A>C (p.Lys39Gln)
c.514A>C (p.Lys172Gln)
14g.24256040G>ACA485663623TGM1c.1440C>T (p.Ile480=)
c.114C>T (p.Ile38=)
c.513C>T (p.Ile171=)
 dbSNP gnomAD v2 gnomAD v4
14g.24256040G>CCA389256464TGM1c.1440C>G (p.Ile480Met)
c.114C>G (p.Ile38Met)
c.513C>G (p.Ile171Met)
 gnomAD v4
14g.24256040G=CA2123832488TGM1c.1440C= (p.Ile480=)
c.114C= (p.Ile38=)
c.513C= (p.Ile171=)
14g.24256040G>TCA485663624TGM1c.1440C>A (p.Ile480=)
c.114C>A (p.Ile38=)
c.513C>A (p.Ile171=)
 gnomAD v4
14g.24256041A>CCA389256503TGM1c.1439T>G (p.Ile480Ser)
c.113T>G (p.Ile38Ser)
c.512T>G (p.Ile171Ser)
14g.24256041A>GCA389256480TGM1c.1439T>C (p.Ile480Thr)
c.113T>C (p.Ile38Thr)
c.512T>C (p.Ile171Thr)
 gnomAD v4
14g.24256041A>TCA389256472TGM1c.1439T>A (p.Ile480Asn)
c.113T>A (p.Ile38Asn)
c.512T>A (p.Ile171Asn)
 gnomAD v4
14g.24256042T>ACA7131083TGM1c.1438A>T (p.Ile480Phe)
c.112A>T (p.Ile38Phe)
c.511A>T (p.Ile171Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24256042T>CCA389256517TGM1c.1438A>G (p.Ile480Val)
c.112A>G (p.Ile38Val)
c.511A>G (p.Ile171Val)
 gnomAD v3 gnomAD v4
14g.24256042T>GCA389256527TGM1c.1438A>C (p.Ile480Leu)
c.112A>C (p.Ile38Leu)
c.511A>C (p.Ile171Leu)
 dbSNP gnomAD v2 gnomAD v4
14g.24256042T=CA2123832495TGM1c.1438A= (p.Ile480=)
c.112A= (p.Ile38=)
c.511A= (p.Ile171=)
14g.24256043G>ACA7131084TGM1c.1437C>T (p.Ser479=)
c.111C>T (p.Ser37=)
c.510C>T (p.Ser170=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24256043G>CCA485663626TGM1c.1437C>G (p.Ser479=)
c.111C>G (p.Ser37=)
c.510C>G (p.Ser170=)
14g.24256043G=CA2123832507TGM1c.1437C= (p.Ser479=)
c.111C= (p.Ser37=)
c.510C= (p.Ser170=)
14g.24256043G>TCA485663625TGM1c.1437C>A (p.Ser479=)
c.111C>A (p.Ser37=)
c.510C>A (p.Ser170=)
 gnomAD v4
14g.24256044dupCA915948911TGM1c.1437dup (p.Ile480HisfsTer18)
c.111dup (p.Ile38HisfsTer18)
c.510dup (p.Ile171HisfsTer18)
 ClinVar dbSNP gnomAD v4
14g.24256044G>ACA389256542TGM1c.1436C>T (p.Ser479Phe)
c.110C>T (p.Ser37Phe)
c.509C>T (p.Ser170Phe)
 gnomAD v4
14g.24256044G>CCA389256548TGM1c.1436C>G (p.Ser479Cys)
c.110C>G (p.Ser37Cys)
c.509C>G (p.Ser170Cys)
14g.24256044G>TCA389256561TGM1c.1436C>A (p.Ser479Tyr)
c.110C>A (p.Ser37Tyr)
c.509C>A (p.Ser170Tyr)
 gnomAD v4
14g.24256045A>CCA389256575TGM1c.1435T>G (p.Ser479Ala)
c.109T>G (p.Ser37Ala)
c.508T>G (p.Ser170Ala)
14g.24256045A>GCA389256584TGM1c.1435T>C (p.Ser479Pro)
c.109T>C (p.Ser37Pro)
c.508T>C (p.Ser170Pro)
 gnomAD v4
14g.24256045A>TCA389256590TGM1c.1435T>A (p.Ser479Thr)
c.109T>A (p.Ser37Thr)
c.508T>A (p.Ser170Thr)
14g.24256046C>ACA389256620TGM1c.1434G>T (p.Glu478Asp)
c.108G>T (p.Glu36Asp)
c.507G>T (p.Glu169Asp)
 dbSNP gnomAD v2 gnomAD v4
14g.24256046C=CA2123832519TGM1c.1434G= (p.Glu478=)
c.108G= (p.Glu36=)
c.507G= (p.Glu169=)
14g.24256046C>GCA389256630TGM1c.1434G>C (p.Glu478Asp)
c.108G>C (p.Glu36Asp)
c.507G>C (p.Glu169Asp)
14g.24256046C>TCA7131085TGM1c.1434G>A (p.Glu478=)
c.108G>A (p.Glu36=)
c.507G>A (p.Glu169=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24256047T>ACA389256647TGM1c.1433A>T (p.Glu478Val)
c.107A>T (p.Glu36Val)
c.506A>T (p.Glu169Val)
 gnomAD v4
14g.24256047T>CCA389256648TGM1c.1433A>G (p.Glu478Gly)
c.107A>G (p.Glu36Gly)
c.506A>G (p.Glu169Gly)
 gnomAD v4
14g.24256047T>GCA389256646TGM1c.1433A>C (p.Glu478Ala)
c.107A>C (p.Glu36Ala)
c.506A>C (p.Glu169Ala)
14g.24256048C>ACA389256656TGM1c.1432G>T (p.Glu478Ter)
c.106G>T (p.Glu36Ter)
c.505G>T (p.Glu169Ter)
 gnomAD v4
14g.24256048C>GCA389256655TGM1c.1432G>C (p.Glu478Gln)
c.106G>C (p.Glu36Gln)
c.505G>C (p.Glu169Gln)
 gnomAD v4
14g.24256048C>TCA389256666TGM1c.1432G>A (p.Glu478Lys)
c.106G>A (p.Glu36Lys)
c.505G>A (p.Glu169Lys)
 gnomAD v4
14g.24256049C>ACA485663627TGM1c.1431G>T (p.Val477=)
c.105G>T (p.Val35=)
c.504G>T (p.Val168=)
 gnomAD v4
14g.24256049C>GCA485663629TGM1c.1431G>C (p.Val477=)
c.105G>C (p.Val35=)
c.504G>C (p.Val168=)
14g.24256049C>TCA485663628TGM1c.1431G>A (p.Val477=)
c.105G>A (p.Val35=)
c.504G>A (p.Val168=)
 gnomAD v4
14g.24256049_24256051delinsAGCA2580087961TGM1c.1429_1431delinsCT (p.Val477LeufsTer11)
c.103_105delinsCT (p.Val35LeufsTer11)
c.502_504delinsCT (p.Val168LeufsTer11)
 ClinVar
14g.24256051_24256052delCA2697553835TGM1c.1430_1431del (p.Val477GlyfsTer20)
c.104_105del (p.Val35GlyfsTer20)
c.503_504del (p.Val168GlyfsTer20)
 ClinVar
14g.24256050A>CCA389256680TGM1c.1430T>G (p.Val477Gly)
c.104T>G (p.Val35Gly)
c.503T>G (p.Val168Gly)
14g.24256050A>GCA389256699TGM1c.1430T>C (p.Val477Ala)
c.104T>C (p.Val35Ala)
c.503T>C (p.Val168Ala)
 gnomAD v4
14g.24256050A>TCA389256710TGM1c.1430T>A (p.Val477Glu)
c.104T>A (p.Val35Glu)
c.503T>A (p.Val168Glu)
 gnomAD v4
14g.24256051C>ACA389256713TGM1c.1429G>T (p.Val477Leu)
c.103G>T (p.Val35Leu)
c.502G>T (p.Val168Leu)
 gnomAD v4
14g.24256051C>GCA389256714TGM1c.1429G>C (p.Val477Leu)
c.103G>C (p.Val35Leu)
c.502G>C (p.Val168Leu)
14g.24256051C>TCA389256715TGM1c.1429G>A (p.Val477Met)
c.103G>A (p.Val35Met)
c.502G>A (p.Val168Met)
 gnomAD v4
14g.24256052A=CA2123832520TGM1c.1428T= (p.Ser476=)
c.102T= (p.Ser34=)
c.501T= (p.Ser167=)
14g.24256052A>CCA485663630TGM1c.1428T>G (p.Ser476=)
c.102T>G (p.Ser34=)
c.501T>G (p.Ser167=)
14g.24256052A>GCA485663631TGM1c.1428T>C (p.Ser476=)
c.102T>C (p.Ser34=)
c.501T>C (p.Ser167=)
 dbSNP gnomAD v2 gnomAD v4
14g.24256052A>TCA485663632TGM1c.1428T>A (p.Ser476=)
c.102T>A (p.Ser34=)
c.501T>A (p.Ser167=)
14g.24256053G>ACA389256726TGM1c.1427C>T (p.Ser476Phe)
c.101C>T (p.Ser34Phe)
c.500C>T (p.Ser167Phe)
 gnomAD v4
14g.24256053G>CCA389256728TGM1c.1427C>G (p.Ser476Cys)
c.101C>G (p.Ser34Cys)
c.500C>G (p.Ser167Cys)
14g.24256053G>TCA389256730TGM1c.1427C>A (p.Ser476Tyr)
c.101C>A (p.Ser34Tyr)
c.500C>A (p.Ser167Tyr)
 gnomAD v4
14g.24256054A>CCA389256734TGM1c.1426T>G (p.Ser476Ala)
c.100T>G (p.Ser34Ala)
c.499T>G (p.Ser167Ala)
14g.24256054A>GCA389256735TGM1c.1426T>C (p.Ser476Pro)
c.100T>C (p.Ser34Pro)
c.499T>C (p.Ser167Pro)
14g.24256054A>TCA389256736TGM1c.1426T>A (p.Ser476Thr)
c.100T>A (p.Ser34Thr)
c.499T>A (p.Ser167Thr)
14g.24256055G>ACA7131086TGM1c.1425C>T (p.Cys475=)
c.99C>T (p.Cys33=)
c.498C>T (p.Cys166=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24256055G>CCA389256744TGM1c.1425C>G (p.Cys475Trp)
c.99C>G (p.Cys33Trp)
c.498C>G (p.Cys166Trp)
14g.24256055G=CA2123832523TGM1c.1425C= (p.Cys475=)
c.99C= (p.Cys33=)
c.498C= (p.Cys166=)
14g.24256055G>TCA389256740TGM1c.1425C>A (p.Cys475Ter)
c.99C>A (p.Cys33Ter)
c.498C>A (p.Cys166Ter)
 gnomAD v4
14g.24256056C>ACA389256747TGM1c.1424G>T (p.Cys475Phe)
c.98G>T (p.Cys33Phe)
c.497G>T (p.Cys166Phe)
 gnomAD v4
14g.24256056C>GCA389256748TGM1c.1424G>C (p.Cys475Ser)
c.98G>C (p.Cys33Ser)
c.497G>C (p.Cys166Ser)
14g.24256056C>TCA389256753TGM1c.1424G>A (p.Cys475Tyr)
c.98G>A (p.Cys33Tyr)
c.497G>A (p.Cys166Tyr)
 gnomAD v4
14g.24256057A>CCA389256757TGM1c.1423T>G (p.Cys475Gly)
c.97T>G (p.Cys33Gly)
c.496T>G (p.Cys166Gly)
14g.24256057A>GCA389256759TGM1c.1423T>C (p.Cys475Arg)
c.97T>C (p.Cys33Arg)
c.496T>C (p.Cys166Arg)
 gnomAD v4
14g.24256057A>TCA389256762TGM1c.1423T>A (p.Cys475Ser)
c.97T>A (p.Cys33Ser)
c.496T>A (p.Cys166Ser)

Number of alleles fetched