Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.24261676C>ACA2800897403TGM1c.508+19G>T (n.508+19G>T)
c.-29+451G>T (n.-29+451G>T)
14g.24261678A>GCA2624348975TGM1c.508+17T>C (n.508+17T>C)
c.-29+449T>C (n.-29+449T>C)
 gnomAD v4
14g.24261680C>ACA2624348976TGM1c.508+15G>T (n.508+15G>T)
c.-29+447G>T (n.-29+447G>T)
 gnomAD v4
14g.24261680C=CA2123855871TGM1c.508+15G= (n.508+15G=)
c.-29+447G= (n.-29+447G=)
14g.24261680C>TCA7131392TGM1c.508+15G>A (n.508+15G>A)
c.-29+447G>A (n.-29+447G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24261681C=CA2123855872TGM1c.508+14G= (n.508+14G=)
c.-29+446G= (n.-29+446G=)
14g.24261681C>TCA961133582TGM1c.508+14G>A (n.508+14G>A)
c.-29+446G>A (n.-29+446G>A)
 dbSNP gnomAD v3 gnomAD v4
14g.24261684G>ACA7131393TGM1c.508+11C>T (n.508+11C>T)
c.-29+443C>T (n.-29+443C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.24261684G=CA2123855873TGM1c.508+11C= (n.508+11C=)
c.-29+443C= (n.-29+443C=)
14g.24261685C>TCA2575494042TGM1c.508+10G>A (n.508+10G>A)
c.-29+442G>A (n.-29+442G>A)
 gnomAD v4
14g.24261686C=CA2123855874TGM1c.508+9G= (n.508+9G=)
c.-29+441G= (n.-29+441G=)
14g.24261686C>GCA7131394TGM1c.508+9G>C (n.508+9G>C)
c.-29+441G>C (n.-29+441G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24261686C>TCA2624348991TGM1c.508+9G>A (n.508+9G>A)
c.-29+441G>A (n.-29+441G>A)
 gnomAD v4
14g.24261687C>TCA2624348996TGM1c.508+8G>A (n.508+8G>A)
c.-29+440G>A (n.-29+440G>A)
 gnomAD v4
14g.24261688C>ACA2800897404TGM1c.508+7G>T (n.508+7G>T)
c.-29+439G>T (n.-29+439G>T)
14g.24261689A=CA2123855875TGM1c.508+6T= (n.508+6T=)
c.-29+438T= (n.-29+438T=)
14g.24261689A>GCA257901321TGM1c.508+6T>C (n.508+6T>C)
c.-29+438T>C (n.-29+438T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24261691T>ACA2624349004TGM1c.508+4A>T (n.508+4A>T)
c.-29+436A>T (n.-29+436A>T)
 gnomAD v4
14g.24261691T>CCA2580087988TGM1c.508+4A>G (n.508+4A>G)
c.-29+436A>G (n.-29+436A>G)
 ClinVar gnomAD v4
14g.24261691_24261692delinsTGCA2123855876TGM1c.508+3_508+4delinsCA (n.508+3_508+4delinsCA)
c.-29+435_-29+436delinsCA (n.-29+435_-29+436delinsCA)
14g.24261691_24261693delinsTGACA2123855877TGM1c.508+2_508+4delinsTCA (n.508+2_508+4delinsTCA)
c.-29+434_-29+436delinsTCA (n.-29+434_-29+436delinsTCA)
14g.24261692delCA257901333TGM1c.508+3del (n.508+3del)
c.-29+435del (n.-29+435del)
 dbSNP
14g.24261692G>ACA257901351TGM1c.508+3C>T (n.508+3C>T)
c.-29+435C>T (n.-29+435C>T)
 dbSNP
14g.24261692G>CCA257901353TGM1c.508+3C>G (n.508+3C>G)
c.-29+435C>G (n.-29+435C>G)
 dbSNP gnomAD v4
14g.24261692G=CA2123855878TGM1c.508+3C= (n.508+3C=)
c.-29+435C= (n.-29+435C=)
14g.24261692G>TCA2517973639TGM1c.508+3C>A (n.508+3C>A)
c.-29+435C>A (n.-29+435C>A)
14g.24261692_24261693delinsTCA257901346TGM1c.508+2_508+3delinsA (n.508+2_508+3delinsA)
c.-29+434_-29+435delinsA (n.-29+434_-29+435delinsA)
 dbSNP
14g.24261693A=CA2123855879TGM1c.508+2T= (n.508+2T=)
c.-29+434T= (n.-29+434T=)
14g.24261693A>CCA389276635TGM1c.508+2T>G (n.508+2T>G)
c.-29+434T>G (n.-29+434T>G)
14g.24261693A>GCA389276646TGM1c.508+2T>C (n.508+2T>C)
c.-29+434T>C (n.-29+434T>C)
14g.24261693A>TCA257901360TGM1c.508+2T>A (n.508+2T>A)
c.-29+434T>A (n.-29+434T>A)
 dbSNP
14g.24261694C>ACA389276673TGM1c.508+1G>T (n.508+1G>T)
c.-29+433G>T (n.-29+433G>T)
14g.24261694C=CA2123855880TGM1c.508+1G= (n.508+1G=)
c.-29+433G= (n.-29+433G=)
14g.24261694C>GCA389276675TGM1c.508+1G>C (n.508+1G>C)
c.-29+433G>C (n.-29+433G>C)
14g.24261694C>TCA389276668TGM1c.508+1G>A (n.508+1G>A)
c.-29+433G>A (n.-29+433G>A)
 dbSNP gnomAD v2 gnomAD v4
14g.24261695C>ACA389276676TGM1c.508G>T (p.Gly170Ter)
c.-29+432G>T (n.-29+432G>T)
 ClinVar dbSNP
14g.24261695C=CA2123855881TGM1c.508G= (p.Gly170=)
c.-29+432G= (n.-29+432G=)
14g.24261695C>GCA389276678TGM1c.508G>C (p.Gly170Arg)
c.-29+432G>C (n.-29+432G>C)
14g.24261695C>TCA389276679TGM1c.508G>A (p.Gly170Arg)
c.-29+432G>A (n.-29+432G>A)
 dbSNP gnomAD v3 gnomAD v4
14g.24261696G>ACA7131395TGM1c.507C>T (p.Ile169=)
c.-29+431C>T (n.-29+431C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24261696G>CCA389276696TGM1c.507C>G (p.Ile169Met)
c.-29+431C>G (n.-29+431C>G)
14g.24261696G=CA2123855882TGM1c.507C= (p.Ile169=)
c.-29+431C= (n.-29+431C=)
14g.24261696G>TCA485665132TGM1c.507C>A (p.Ile169=)
c.-29+431C>A (n.-29+431C>A)
 gnomAD v4
14g.24261696_24261697delinsATCA645586278TGM1c.506_507delinsAT (p.Ile169Asn)
c.-29+430_-29+431delinsAT (n.-29+430_-29+431delinsAT)
 COSMIC
14g.24261697A>CCA389276701TGM1c.506T>G (p.Ile169Ser)
c.-29+430T>G (n.-29+430T>G)
14g.24261697A>GCA389276712TGM1c.506T>C (p.Ile169Thr)
c.-29+430T>C (n.-29+430T>C)
14g.24261697A>TCA389276728TGM1c.506T>A (p.Ile169Asn)
c.-29+430T>A (n.-29+430T>A)
14g.24261698T>ACA389276738TGM1c.505A>T (p.Ile169Phe)
c.-29+429A>T (n.-29+429A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24261698T>CCA389276743TGM1c.505A>G (p.Ile169Val)
c.-29+429A>G (n.-29+429A>G)
 dbSNP gnomAD v2 gnomAD v4
14g.24261698T>GCA389276748TGM1c.505A>C (p.Ile169Leu)
c.-29+429A>C (n.-29+429A>C)
 gnomAD v4
14g.24261698T=CA2123855883TGM1c.505A= (p.Ile169=)
c.-29+429A= (n.-29+429A=)
14g.24261699G>ACA7131396TGM1c.504C>T (p.Leu168=)
c.-29+428C>T (n.-29+428C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.24261699G>CCA485665135TGM1c.504C>G (p.Leu168=)
c.-29+428C>G (n.-29+428C>G)
 ClinVar
14g.24261699G=CA2123855884TGM1c.504C= (p.Leu168=)
c.-29+428C= (n.-29+428C=)
14g.24261699G>TCA485665133TGM1c.504C>A (p.Leu168=)
c.-29+428C>A (n.-29+428C>A)
14g.24261700A>CCA389276786TGM1c.503T>G (p.Leu168Arg)
c.-29+427T>G (n.-29+427T>G)
14g.24261700A>GCA389276796TGM1c.503T>C (p.Leu168Pro)
c.-29+427T>C (n.-29+427T>C)
14g.24261700A>TCA389276775TGM1c.503T>A (p.Leu168His)
c.-29+427T>A (n.-29+427T>A)
14g.24261701G>ACA389276802TGM1c.502C>T (p.Leu168Phe)
c.-29+426C>T (n.-29+426C>T)
 dbSNP gnomAD v3 gnomAD v4
14g.24261701G>CCA389276811TGM1c.502C>G (p.Leu168Val)
c.-29+426C>G (n.-29+426C>G)
14g.24261701G=CA2123855885TGM1c.502C= (p.Leu168=)
c.-29+426C= (n.-29+426C=)
14g.24261701G>TCA389276822TGM1c.502C>A (p.Leu168Ile)
c.-29+426C>A (n.-29+426C>A)
14g.24261702T>ACA389276828TGM1c.501A>T (p.Leu167Phe)
c.-29+425A>T (n.-29+425A>T)
14g.24261702T>CCA485665138TGM1c.501A>G (p.Leu167=)
c.-29+425A>G (n.-29+425A>G)
14g.24261702T>GCA389276848TGM1c.501A>C (p.Leu167Phe)
c.-29+425A>C (n.-29+425A>C)
14g.24261703A>CCA389276860TGM1c.500T>G (p.Leu167Ter)
c.-29+424T>G (n.-29+424T>G)
14g.24261703A>GCA389276854TGM1c.500T>C (p.Leu167Ser)
c.-29+424T>C (n.-29+424T>C)
14g.24261703A>TCA389276852TGM1c.500T>A (p.Leu167Ter)
c.-29+424T>A (n.-29+424T>A)
14g.24261704A>CCA389276863TGM1c.499T>G (p.Leu167Val)
c.-29+423T>G (n.-29+423T>G)
14g.24261704A>GCA485665141TGM1c.499T>C (p.Leu167=)
c.-29+423T>C (n.-29+423T>C)
14g.24261704A>TCA389276864TGM1c.499T>A (p.Leu167Ile)
c.-29+423T>A (n.-29+423T>A)
14g.24261705C>ACA389276867TGM1c.498G>T (p.Glu166Asp)
c.-29+422G>T (n.-29+422G>T)
14g.24261705C=CA2123855886TGM1c.498G= (p.Glu166=)
c.-29+422G= (n.-29+422G=)
14g.24261705C>GCA389276884TGM1c.498G>C (p.Glu166Asp)
c.-29+422G>C (n.-29+422G>C)
14g.24261705C>TCA485665144TGM1c.498G>A (p.Glu166=)
c.-29+422G>A (n.-29+422G>A)
 ClinVar dbSNP gnomAD v4
14g.24261706T>ACA389276902TGM1c.497A>T (p.Glu166Val)
c.-29+421A>T (n.-29+421A>T)
14g.24261706T>CCA389276906TGM1c.497A>G (p.Glu166Gly)
c.-29+421A>G (n.-29+421A>G)
14g.24261706T>GCA389276910TGM1c.497A>C (p.Glu166Ala)
c.-29+421A>C (n.-29+421A>C)
14g.24261707C>ACA389276946TGM1c.496G>T (p.Glu166Ter)
c.-29+420G>T (n.-29+420G>T)
 ClinVar
14g.24261707C>GCA389276941TGM1c.496G>C (p.Glu166Gln)
c.-29+420G>C (n.-29+420G>C)
 gnomAD v4
14g.24261707C>TCA389276919TGM1c.496G>A (p.Glu166Lys)
c.-29+420G>A (n.-29+420G>A)
 gnomAD v4
14g.24261708A=CA2123855887TGM1c.495T= (p.Leu165=)
c.-29+419T= (n.-29+419T=)
14g.24261708A>CCA485665148TGM1c.495T>G (p.Leu165=)
c.-29+419T>G (n.-29+419T>G)
 gnomAD v4
14g.24261708A>GCA485665149TGM1c.495T>C (p.Leu165=)
c.-29+419T>C (n.-29+419T>C)
 ClinVar dbSNP gnomAD v4
14g.24261708A>TCA485665150TGM1c.495T>A (p.Leu165=)
c.-29+419T>A (n.-29+419T>A)
14g.24261709A>CCA389276953TGM1c.494T>G (p.Leu165Arg)
c.-29+418T>G (n.-29+418T>G)
14g.24261709A>GCA389276958TGM1c.494T>C (p.Leu165Pro)
c.-29+418T>C (n.-29+418T>C)
14g.24261709A>TCA389276954TGM1c.494T>A (p.Leu165His)
c.-29+418T>A (n.-29+418T>A)
14g.24261710G>ACA389276965TGM1c.493C>T (p.Leu165Phe)
c.-29+417C>T (n.-29+417C>T)
14g.24261710G>CCA389276971TGM1c.493C>G (p.Leu165Val)
c.-29+417C>G (n.-29+417C>G)
14g.24261710G>TCA389276972TGM1c.493C>A (p.Leu165Ile)
c.-29+417C>A (n.-29+417C>A)
14g.24261712delCA2624349061TGM1c.493del (p.Glu166SerfsTer16)
c.-29+417del (n.-29+417del)
 gnomAD v4
14g.24261711G>ACA485665153TGM1c.492C>T (p.Thr164=)
c.-29+416C>T (n.-29+416C>T)
14g.24261711G>CCA485665154TGM1c.492C>G (p.Thr164=)
c.-29+416C>G (n.-29+416C>G)
14g.24261711G=CA2123855888TGM1c.492C= (p.Thr164=)
c.-29+416C= (n.-29+416C=)
14g.24261711G>TCA7131397TGM1c.492C>A (p.Thr164=)
c.-29+416C>A (n.-29+416C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24261712G>ACA389276978TGM1c.491C>T (p.Thr164Ile)
c.-29+415C>T (n.-29+415C>T)
 dbSNP gnomAD v4
14g.24261712G>CCA389276982TGM1c.491C>G (p.Thr164Ser)
c.-29+415C>G (n.-29+415C>G)
14g.24261712G=CA2123855889TGM1c.491C= (p.Thr164=)
c.-29+415C= (n.-29+415C=)
14g.24261712G>TCA389276983TGM1c.491C>A (p.Thr164Asn)
c.-29+415C>A (n.-29+415C>A)
14g.24261713T>ACA389276984TGM1c.490A>T (p.Thr164Ser)
c.-29+414A>T (n.-29+414A>T)
14g.24261713T>CCA389276987TGM1c.490A>G (p.Thr164Ala)
c.-29+414A>G (n.-29+414A>G)
14g.24261713T>GCA389276991TGM1c.490A>C (p.Thr164Pro)
c.-29+414A>C (n.-29+414A>C)
14g.24261714G>ACA485665156TGM1c.489C>T (p.Ile163=)
c.-29+413C>T (n.-29+413C>T)
14g.24261714G>CCA389276993TGM1c.489C>G (p.Ile163Met)
c.-29+413C>G (n.-29+413C>G)
14g.24261714G>TCA485665155TGM1c.489C>A (p.Ile163=)
c.-29+413C>A (n.-29+413C>A)
 ClinVar
14g.24261715delCA2580087989TGM1c.488del (p.Ile163ThrfsTer19)
c.-29+412del (n.-29+412del)
 ClinVar
14g.24261715A>CCA389277009TGM1c.488T>G (p.Ile163Ser)
c.-29+412T>G (n.-29+412T>G)
14g.24261715A>GCA389277021TGM1c.488T>C (p.Ile163Thr)
c.-29+412T>C (n.-29+412T>C)
14g.24261715A>TCA389277025TGM1c.488T>A (p.Ile163Asn)
c.-29+412T>A (n.-29+412T>A)
14g.24261716T>ACA389277028TGM1c.487A>T (p.Ile163Phe)
c.-29+411A>T (n.-29+411A>T)
14g.24261716T>CCA389277027TGM1c.487A>G (p.Ile163Val)
c.-29+411A>G (n.-29+411A>G)
 dbSNP
14g.24261716T>GCA389277026TGM1c.487A>C (p.Ile163Leu)
c.-29+411A>C (n.-29+411A>C)
14g.24261716T=CA2123855890TGM1c.487A= (p.Ile163=)
c.-29+411A= (n.-29+411A=)
14g.24261717G>ACA485665162TGM1c.486C>T (p.Arg162=)
c.-29+410C>T (n.-29+410C>T)
 ClinVar dbSNP
14g.24261717G>CCA485665159TGM1c.486C>G (p.Arg162=)
c.-29+410C>G (n.-29+410C>G)
14g.24261717G=CA2123855891TGM1c.486C= (p.Arg162=)
c.-29+410C= (n.-29+410C=)
14g.24261717G>TCA485665161TGM1c.486C>A (p.Arg162=)
c.-29+410C>A (n.-29+410C>A)
14g.24261718C>ACA389277029TGM1c.485G>T (p.Arg162Leu)
c.-29+409G>T (n.-29+409G>T)
 gnomAD v4
14g.24261718C=CA2123855892TGM1c.485G= (p.Arg162=)
c.-29+409G= (n.-29+409G=)
14g.24261718C>GCA389277042TGM1c.485G>C (p.Arg162Pro)
c.-29+409G>C (n.-29+409G>C)
14g.24261718C>TCA7131398TGM1c.485G>A (p.Arg162His)
c.-29+409G>A (n.-29+409G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24261719G>ACA7131399TGM1c.484C>T (p.Arg162Cys)
c.-29+408C>T (n.-29+408C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.24261719G>CCA7131400TGM1c.484C>G (p.Arg162Gly)
c.-29+408C>G (n.-29+408C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24261719G=CA2123855893TGM1c.484C= (p.Arg162=)
c.-29+408C= (n.-29+408C=)
14g.24261719G>TCA389277049TGM1c.484C>A (p.Arg162Ser)
c.-29+408C>A (n.-29+408C>A)
14g.24261720A=CA2123855894TGM1c.483T= (p.Asp161=)
c.-29+407T= (n.-29+407T=)
14g.24261720A>CCA389277051TGM1c.483T>G (p.Asp161Glu)
c.-29+407T>G (n.-29+407T>G)
14g.24261720A>GCA485665166TGM1c.483T>C (p.Asp161=)
c.-29+407T>C (n.-29+407T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.24261720A>TCA389277052TGM1c.483T>A (p.Asp161Glu)
c.-29+407T>A (n.-29+407T>A)
14g.24261721T>ACA389277054TGM1c.482A>T (p.Asp161Val)
c.-29+406A>T (n.-29+406A>T)
14g.24261721T>CCA389277061TGM1c.482A>G (p.Asp161Gly)
c.-29+406A>G (n.-29+406A>G)
14g.24261721T>GCA389277065TGM1c.482A>C (p.Asp161Ala)
c.-29+406A>C (n.-29+406A>C)
14g.24261722C>ACA389277078TGM1c.481G>T (p.Asp161Tyr)
c.-29+405G>T (n.-29+405G>T)
14g.24261722C>GCA389277080TGM1c.481G>C (p.Asp161His)
c.-29+405G>C (n.-29+405G>C)
14g.24261722C>TCA389277087TGM1c.481G>A (p.Asp161Asn)
c.-29+405G>A (n.-29+405G>A)
14g.24261723A>CCA485665170TGM1c.480T>G (p.Ser160=)
c.-29+404T>G (n.-29+404T>G)
 ClinVar
14g.24261723A>GCA485665169TGM1c.480T>C (p.Ser160=)
c.-29+404T>C (n.-29+404T>C)
 ClinVar
14g.24261723A>TCA485665168TGM1c.480T>A (p.Ser160=)
c.-29+404T>A (n.-29+404T>A)
14g.24261724G>ACA389277100TGM1c.479C>T (p.Ser160Phe)
c.-29+403C>T (n.-29+403C>T)
14g.24261724G>CCA256460TGM1c.479C>G (p.Ser160Cys)
c.-29+403C>G (n.-29+403C>G)
 ClinVar dbSNP
14g.24261724G=CA2123855895TGM1c.479C= (p.Ser160=)
c.-29+403C= (n.-29+403C=)
14g.24261724G>TCA389277092TGM1c.479C>A (p.Ser160Tyr)
c.-29+403C>A (n.-29+403C>A)
14g.24261725A>CCA389277110TGM1c.478T>G (p.Ser160Ala)
c.-29+402T>G (n.-29+402T>G)
14g.24261725A>GCA389277117TGM1c.478T>C (p.Ser160Pro)
c.-29+402T>C (n.-29+402T>C)
14g.24261725A>TCA389277122TGM1c.478T>A (p.Ser160Thr)
c.-29+402T>A (n.-29+402T>A)
14g.24261726G>ACA7131401TGM1c.477C>T (p.Ser159=)
c.-29+401C>T (n.-29+401C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.24261726G>CCA485665173TGM1c.477C>G (p.Ser159=)
c.-29+401C>G (n.-29+401C>G)
 ClinVar
14g.24261726G=CA2123855896TGM1c.477C= (p.Ser159=)
c.-29+401C= (n.-29+401C=)
14g.24261726G>TCA7131402TGM1c.477C>A (p.Ser159=)
c.-29+401C>A (n.-29+401C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.24261727G>ACA7131403TGM1c.476C>T (p.Ser159Phe)
c.-29+400C>T (n.-29+400C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24261727G>CCA389277129TGM1c.476C>G (p.Ser159Cys)
c.-29+400C>G (n.-29+400C>G)
14g.24261727G=CA2123855897TGM1c.476C= (p.Ser159=)
c.-29+400C= (n.-29+400C=)
14g.24261727G>TCA389277131TGM1c.476C>A (p.Ser159Tyr)
c.-29+400C>A (n.-29+400C>A)
14g.24261728A=CA2123855898TGM1c.475T= (p.Ser159=)
c.-29+399T= (n.-29+399T=)
14g.24261728A>CCA389277137TGM1c.475T>G (p.Ser159Ala)
c.-29+399T>G (n.-29+399T>G)
14g.24261728A>GCA389277144TGM1c.475T>C (p.Ser159Pro)
c.-29+399T>C (n.-29+399T>C)
14g.24261728A>TCA389277163TGM1c.475T>A (p.Ser159Thr)
c.-29+399T>A (n.-29+399T>A)
 dbSNP gnomAD v2 gnomAD v4
14g.24261729T>ACA389277168TGM1c.474A>T (p.Glu158Asp)
c.-29+398A>T (n.-29+398A>T)
 gnomAD v4
14g.24261729T>CCA485665178TGM1c.474A>G (p.Glu158=)
c.-29+398A>G (n.-29+398A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24261729T>GCA389277173TGM1c.474A>C (p.Glu158Asp)
c.-29+398A>C (n.-29+398A>C)
14g.24261729T=CA2123855899TGM1c.474A= (p.Glu158=)
c.-29+398A= (n.-29+398A=)
14g.24261730T>ACA389277190TGM1c.473A>T (p.Glu158Val)
c.-29+397A>T (n.-29+397A>T)
14g.24261730T>CCA389277185TGM1c.473A>G (p.Glu158Gly)
c.-29+397A>G (n.-29+397A>G)
14g.24261730T>GCA389277189TGM1c.473A>C (p.Glu158Ala)
c.-29+397A>C (n.-29+397A>C)
 gnomAD v4
14g.24261731C>ACA389277191TGM1c.472G>T (p.Glu158Ter)
c.-29+396G>T (n.-29+396G>T)
14g.24261731C=CA2123855900TGM1c.472G= (p.Glu158=)
c.-29+396G= (n.-29+396G=)
14g.24261731C>GCA7131404TGM1c.472G>C (p.Glu158Gln)
c.-29+396G>C (n.-29+396G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.24261731C>TCA389277202TGM1c.472G>A (p.Glu158Lys)
c.-29+396G>A (n.-29+396G>A)
14g.24261732A>CCA389277206TGM1c.471T>G (p.Tyr157Ter)
c.-29+395T>G (n.-29+395T>G)
14g.24261732A>GCA485665180TGM1c.471T>C (p.Tyr157=)
c.-29+395T>C (n.-29+395T>C)
14g.24261732A>TCA389277211TGM1c.471T>A (p.Tyr157Ter)
c.-29+395T>A (n.-29+395T>A)
14g.24261733T>ACA389277212TGM1c.470A>T (p.Tyr157Phe)
c.-29+394A>T (n.-29+394A>T)
14g.24261733T>CCA7131405TGM1c.470A>G (p.Tyr157Cys)
c.-29+394A>G (n.-29+394A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.24261733T>GCA389277219TGM1c.470A>C (p.Tyr157Ser)
c.-29+394A>C (n.-29+394A>C)
14g.24261733T=CA2123855901TGM1c.470A= (p.Tyr157=)
c.-29+394A= (n.-29+394A=)
14g.24261734A>CCA389277235TGM1c.469T>G (p.Tyr157Asp)
c.-29+393T>G (n.-29+393T>G)
14g.24261734A>GCA389277251TGM1c.469T>C (p.Tyr157His)
c.-29+393T>C (n.-29+393T>C)
14g.24261734A>TCA389277256TGM1c.469T>A (p.Tyr157Asn)
c.-29+393T>A (n.-29+393T>A)
14g.24261735G>ACA485665182TGM1c.468C>T (p.Thr156=)
c.-29+392C>T (n.-29+392C>T)
14g.24261735G>CCA485665183TGM1c.468C>G (p.Thr156=)
c.-29+392C>G (n.-29+392C>G)
14g.24261735G>TCA485665185TGM1c.468C>A (p.Thr156=)
c.-29+392C>A (n.-29+392C>A)
14g.24261736G>ACA389277269TGM1c.467C>T (p.Thr156Ile)
c.-29+391C>T (n.-29+391C>T)
14g.24261736G>CCA389277274TGM1c.467C>G (p.Thr156Ser)
c.-29+391C>G (n.-29+391C>G)
14g.24261736G>TCA389277271TGM1c.467C>A (p.Thr156Asn)
c.-29+391C>A (n.-29+391C>A)
14g.24261737T>ACA389277278TGM1c.466A>T (p.Thr156Ser)
c.-29+390A>T (n.-29+390A>T)
14g.24261737T>CCA389277290TGM1c.466A>G (p.Thr156Ala)
c.-29+390A>G (n.-29+390A>G)
 dbSNP gnomAD v3 gnomAD v4
14g.24261737T>GCA389277280TGM1c.466A>C (p.Thr156Pro)
c.-29+390A>C (n.-29+390A>C)
14g.24261737T=CA2123855902TGM1c.466A= (p.Thr156=)
c.-29+390A= (n.-29+390A=)
14g.24261738C>ACA485665186TGM1c.465G>T (p.Arg155=)
c.-29+389G>T (n.-29+389G>T)
14g.24261738C>GCA485665187TGM1c.465G>C (p.Arg155=)
c.-29+389G>C (n.-29+389G>C)
14g.24261738C>TCA485665188TGM1c.465G>A (p.Arg155=)
c.-29+389G>A (n.-29+389G>A)
14g.24261739C>ACA389277299TGM1c.464G>T (p.Arg155Leu)
c.-29+388G>T (n.-29+388G>T)
14g.24261739C=CA2123855903TGM1c.464G= (p.Arg155=)
c.-29+388G= (n.-29+388G=)
14g.24261739C>GCA257901433TGM1c.464G>C (p.Arg155Pro)
c.-29+388G>C (n.-29+388G>C)
 ClinVar dbSNP
14g.24261739C>TCA7131406TGM1c.464G>A (p.Arg155Gln)
c.-29+388G>A (n.-29+388G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24261740G>ACA7131407TGM1c.463C>T (p.Arg155Trp)
c.-29+387C>T (n.-29+387C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24261740G>CCA389277327TGM1c.463C>G (p.Arg155Gly)
c.-29+387C>G (n.-29+387C>G)
14g.24261740G=CA2123855904TGM1c.463C= (p.Arg155=)
c.-29+387C= (n.-29+387C=)
14g.24261740G>TCA485665193TGM1c.463C>A (p.Arg155=)
c.-29+387C>A (n.-29+387C>A)
14g.24261741G>ACA485665195TGM1c.462C>T (p.Ser154=)
c.-29+386C>T (n.-29+386C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24261741G>CCA485665196TGM1c.462C>G (p.Ser154=)
c.-29+386C>G (n.-29+386C>G)
14g.24261741G=CA2123855905TGM1c.462C= (p.Ser154=)
c.-29+386C= (n.-29+386C=)
14g.24261741G>TCA485665194TGM1c.462C>A (p.Ser154=)
c.-29+386C>A (n.-29+386C>A)
14g.24261742G>ACA257901483TGM1c.461C>T (p.Ser154Phe)
c.-29+385C>T (n.-29+385C>T)
 dbSNP gnomAD v4
14g.24261742G>CCA389277328TGM1c.461C>G (p.Ser154Cys)
c.-29+385C>G (n.-29+385C>G)
 dbSNP
14g.24261742G=CA2123855906TGM1c.461C= (p.Ser154=)
c.-29+385C= (n.-29+385C=)
14g.24261742G>TCA389277334TGM1c.461C>A (p.Ser154Tyr)
c.-29+385C>A (n.-29+385C>A)
14g.24261743A>CCA389277347TGM1c.460T>G (p.Ser154Ala)
c.-29+384T>G (n.-29+384T>G)
14g.24261743A>GCA389277348TGM1c.460T>C (p.Ser154Pro)
c.-29+384T>C (n.-29+384T>C)
14g.24261743A>TCA389277350TGM1c.460T>A (p.Ser154Thr)
c.-29+384T>A (n.-29+384T>A)
14g.24261743_24261744insTTCA2624349110TGM1c.459_460insAA (p.Ser154AsnfsTer29)
c.-29+383_-29+384insAA (n.-29+383_-29+384insAA)
 gnomAD v4
14g.24261744C>ACA485665200TGM1c.459G>T (p.Leu153=)
c.-29+383G>T (n.-29+383G>T)
14g.24261744C>GCA485665201TGM1c.459G>C (p.Leu153=)
c.-29+383G>C (n.-29+383G>C)
14g.24261744C>TCA485665202TGM1c.459G>A (p.Leu153=)
c.-29+383G>A (n.-29+383G>A)
14g.24261744_24261747delinsCAGGCA2123855907TGM1c.456_459delinsCCTG (p.Leu152=)
c.-29+380_-29+383delinsCCTG (n.-29+380_-29+383delinsCCTG)
14g.24261745A>CCA389277379TGM1c.458T>G (p.Leu153Arg)
c.-29+382T>G (n.-29+382T>G)
14g.24261745A>GCA389277355TGM1c.458T>C (p.Leu153Pro)
c.-29+382T>C (n.-29+382T>C)
14g.24261745A>TCA389277366TGM1c.458T>A (p.Leu153Gln)
c.-29+382T>A (n.-29+382T>A)
14g.24261745_24261746insTACA2624349115TGM1c.458_459insAT (p.Ser154CysfsTer29)
c.-29+382_-29+383insAT (n.-29+382_-29+383insAT)
 gnomAD v4
14g.24261753_24261755dupCA2624349114TGM1c.456_458dup (p.Leu153_Ser154insLeu)
c.-29+380_-29+382dup (n.-29+380_-29+382dup)
 gnomAD v4
14g.24261753_24261755delCA7131408TGM1c.456_458del (p.Leu153del)
c.-29+380_-29+382del (n.-29+380_-29+382del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24261746G>ACA7131409TGM1c.457C>T (p.Leu153=)
c.-29+381C>T (n.-29+381C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.24261746G>CCA389277398TGM1c.457C>G (p.Leu153Val)
c.-29+381C>G (n.-29+381C>G)
14g.24261746G=CA2123855908TGM1c.457C= (p.Leu153=)
c.-29+381C= (n.-29+381C=)
14g.24261746G>TCA389277418TGM1c.457C>A (p.Leu153Met)
c.-29+381C>A (n.-29+381C>A)
14g.24261747G>ACA485665204TGM1c.456C>T (p.Leu152=)
c.-29+380C>T (n.-29+380C>T)
 ClinVar dbSNP gnomAD v4
14g.24261747G>CCA485665205TGM1c.456C>G (p.Leu152=)
c.-29+380C>G (n.-29+380C>G)
 ClinVar dbSNP
14g.24261747G=CA2123855909TGM1c.456C= (p.Leu152=)
c.-29+380C= (n.-29+380C=)
14g.24261747G>TCA485665206TGM1c.456C>A (p.Leu152=)
c.-29+380C>A (n.-29+380C>A)
14g.24261748delCA2573149817TGM1c.455del (p.Leu152ProfsTer30)
c.-29+379del (n.-29+379del)
 ClinVar dbSNP
14g.24261748A>CCA389277431TGM1c.455T>G (p.Leu152Arg)
c.-29+379T>G (n.-29+379T>G)
14g.24261748A>GCA389277433TGM1c.455T>C (p.Leu152Pro)
c.-29+379T>C (n.-29+379T>C)
14g.24261748A>TCA389277435TGM1c.455T>A (p.Leu152His)
c.-29+379T>A (n.-29+379T>A)
14g.24261749G>ACA7131410TGM1c.454C>T (p.Leu152Phe)
c.-29+378C>T (n.-29+378C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24261749G>CCA7131411TGM1c.454C>G (p.Leu152Val)
c.-29+378C>G (n.-29+378C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.24261749G=CA2123855910TGM1c.454C= (p.Leu152=)
c.-29+378C= (n.-29+378C=)
14g.24261749G>TCA389277475TGM1c.454C>A (p.Leu152Ile)
c.-29+378C>A (n.-29+378C>A)
14g.24261750G>ACA257901504TGM1c.453C>T (p.Leu151=)
c.-29+377C>T (n.-29+377C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.24261750G>CCA485665210TGM1c.453C>G (p.Leu151=)
c.-29+377C>G (n.-29+377C>G)
 gnomAD v4
14g.24261750G=CA2123855911TGM1c.453C= (p.Leu151=)
c.-29+377C= (n.-29+377C=)
14g.24261750G>TCA485665212TGM1c.453C>A (p.Leu151=)
c.-29+377C>A (n.-29+377C>A)
14g.24261751A>CCA389277482TGM1c.452T>G (p.Leu151Arg)
c.-29+376T>G (n.-29+376T>G)
14g.24261751A>GCA389277483TGM1c.452T>C (p.Leu151Pro)
c.-29+376T>C (n.-29+376T>C)
 gnomAD v4
14g.24261751A>TCA389277481TGM1c.452T>A (p.Leu151His)
c.-29+376T>A (n.-29+376T>A)
14g.24261752G>ACA389277485TGM1c.451C>T (p.Leu151Phe)
c.-29+375C>T (n.-29+375C>T)
14g.24261752G>CCA389277492TGM1c.451C>G (p.Leu151Val)
c.-29+375C>G (n.-29+375C>G)
14g.24261752G>TCA389277524TGM1c.451C>A (p.Leu151Ile)
c.-29+375C>A (n.-29+375C>A)
14g.24261752_24261753insCCA2624349132TGM1c.450_451insG (p.Leu151AlafsTer8)
c.-29+374_-29+375insG (n.-29+374_-29+375insG)
 gnomAD v4
14g.24261753G>ACA485665214TGM1c.450C>T (p.Leu150=)
c.-29+374C>T (n.-29+374C>T)
14g.24261753G>CCA485665217TGM1c.450C>G (p.Leu150=)
c.-29+374C>G (n.-29+374C>G)
14g.24261753G=CA2123855912TGM1c.450C= (p.Leu150=)
c.-29+374C= (n.-29+374C=)
14g.24261753G>TCA485665218TGM1c.450C>A (p.Leu150=)
c.-29+374C>A (n.-29+374C>A)
 dbSNP gnomAD v2 gnomAD v4
14g.24261754A>CCA389277537TGM1c.449T>G (p.Leu150Arg)
c.-29+373T>G (n.-29+373T>G)
 gnomAD v4
14g.24261754A>GCA389277553TGM1c.449T>C (p.Leu150Pro)
c.-29+373T>C (n.-29+373T>C)
14g.24261754A>TCA389277557TGM1c.449T>A (p.Leu150His)
c.-29+373T>A (n.-29+373T>A)
14g.24261754_24261760delCA2624349133TGM1c.443_449del (p.His148ProfsTer?)
c.-29+367_-29+373del (n.-29+367_-29+373del)
 gnomAD v4
14g.24261755G>ACA389277565TGM1c.448C>T (p.Leu150Phe)
c.-29+372C>T (n.-29+372C>T)
 dbSNP gnomAD v2 gnomAD v4
14g.24261755G>CCA389277569TGM1c.448C>G (p.Leu150Val)
c.-29+372C>G (n.-29+372C>G)
14g.24261755G=CA2123855913TGM1c.448C= (p.Leu150=)
c.-29+372C= (n.-29+372C=)
14g.24261755G>TCA389277593TGM1c.448C>A (p.Leu150Ile)
c.-29+372C>A (n.-29+372C>A)
14g.24261756C>ACA389277601TGM1c.447G>T (p.Met149Ile)
c.-29+371G>T (n.-29+371G>T)
14g.24261756C>GCA389277610TGM1c.447G>C (p.Met149Ile)
c.-29+371G>C (n.-29+371G>C)
14g.24261756C>TCA389277619TGM1c.447G>A (p.Met149Ile)
c.-29+371G>A (n.-29+371G>A)
 gnomAD v4
14g.24261757A=CA2123855914TGM1c.446T= (p.Met149=)
c.-29+370T= (n.-29+370T=)
14g.24261757A>CCA389277629TGM1c.446T>G (p.Met149Arg)
c.-29+370T>G (n.-29+370T>G)
14g.24261757A>GCA389277622TGM1c.446T>C (p.Met149Thr)
c.-29+370T>C (n.-29+370T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.24261757A>TCA389277624TGM1c.446T>A (p.Met149Lys)
c.-29+370T>A (n.-29+370T>A)
14g.24261758T>ACA389277652TGM1c.445A>T (p.Met149Leu)
c.-29+369A>T (n.-29+369A>T)
14g.24261758T>CCA389277658TGM1c.445A>G (p.Met149Val)
c.-29+369A>G (n.-29+369A>G)
 ClinVar dbSNP
14g.24261758T>GCA389277665TGM1c.445A>C (p.Met149Leu)
c.-29+369A>C (n.-29+369A>C)
14g.24261758T=CA2123855915TGM1c.445A= (p.Met149=)
c.-29+369A= (n.-29+369A=)
14g.24261759A>CCA389277678TGM1c.444T>G (p.His148Gln)
c.-29+368T>G (n.-29+368T>G)
14g.24261759A>GCA485665223TGM1c.444T>C (p.His148=)
c.-29+368T>C (n.-29+368T>C)
 ClinVar gnomAD v4 COSMIC
14g.24261759A>TCA389277684TGM1c.444T>A (p.His148Gln)
c.-29+368T>A (n.-29+368T>A)
14g.24261760delCA2580087990TGM1c.443del (p.His148LeufsTer?)
c.-29+367del (n.-29+367del)
 ClinVar gnomAD v4
14g.24261760T>ACA389277696TGM1c.443A>T (p.His148Leu)
c.-29+367A>T (n.-29+367A>T)
14g.24261760T>CCA389277701TGM1c.443A>G (p.His148Arg)
c.-29+367A>G (n.-29+367A>G)
 dbSNP gnomAD v2 gnomAD v4
14g.24261760T>GCA389277703TGM1c.443A>C (p.His148Pro)
c.-29+367A>C (n.-29+367A>C)
14g.24261760T=CA2123855916TGM1c.443A= (p.His148=)
c.-29+367A= (n.-29+367A=)
14g.24261761G>ACA389277707TGM1c.442C>T (p.His148Tyr)
c.-29+366C>T (n.-29+366C>T)
14g.24261761G>CCA389277711TGM1c.442C>G (p.His148Asp)
c.-29+366C>G (n.-29+366C>G)
14g.24261761G>TCA389277717TGM1c.442C>A (p.His148Asn)
c.-29+366C>A (n.-29+366C>A)
14g.24261762G>ACA485665225TGM1c.441C>T (p.Phe147=)
c.-29+365C>T (n.-29+365C>T)
 ClinVar COSMIC
14g.24261762G>CCA389277729TGM1c.441C>G (p.Phe147Leu)
c.-29+365C>G (n.-29+365C>G)
14g.24261762G>TCA389277733TGM1c.441C>A (p.Phe147Leu)
c.-29+365C>A (n.-29+365C>A)
14g.24261763A=CA2123855917TGM1c.440T= (p.Phe147=)
c.-29+364T= (n.-29+364T=)
14g.24261763A>CCA389277748TGM1c.440T>G (p.Phe147Cys)
c.-29+364T>G (n.-29+364T>G)
 gnomAD v4
14g.24261763A>GCA389277742TGM1c.440T>C (p.Phe147Ser)
c.-29+364T>C (n.-29+364T>C)
14g.24261763A>TCA389277737TGM1c.440T>A (p.Phe147Tyr)
c.-29+364T>A (n.-29+364T>A)
 dbSNP gnomAD v3 gnomAD v4
14g.24261764A=CA2123855918TGM1c.439T= (p.Phe147=)
c.-29+363T= (n.-29+363T=)
14g.24261764A>CCA389277755TGM1c.439T>G (p.Phe147Val)
c.-29+363T>G (n.-29+363T>G)
14g.24261764A>GCA389277751TGM1c.439T>C (p.Phe147Leu)
c.-29+363T>C (n.-29+363T>C)
 dbSNP gnomAD v2 gnomAD v4
14g.24261764A>TCA389277753TGM1c.439T>A (p.Phe147Ile)
c.-29+363T>A (n.-29+363T>A)
14g.24261765A>CCA485665228TGM1c.438T>G (p.Pro146=)
c.-29+362T>G (n.-29+362T>G)
14g.24261765A>GCA485665230TGM1c.438T>C (p.Pro146=)
c.-29+362T>C (n.-29+362T>C)
14g.24261765A>TCA485665231TGM1c.438T>A (p.Pro146=)
c.-29+362T>A (n.-29+362T>A)
14g.24261766G>ACA389277760TGM1c.437C>T (p.Pro146Leu)
c.-29+361C>T (n.-29+361C>T)
14g.24261766G>CCA7131412TGM1c.437C>G (p.Pro146Arg)
c.-29+361C>G (n.-29+361C>G)
 dbSNP ExAC gnomAD v4
14g.24261766G=CA2123855919TGM1c.437C= (p.Pro146=)
c.-29+361C= (n.-29+361C=)
14g.24261766G>TCA389277767TGM1c.437C>A (p.Pro146His)
c.-29+361C>A (n.-29+361C>A)
14g.24261767G>ACA389277778TGM1c.436C>T (p.Pro146Ser)
c.-29+360C>T (n.-29+360C>T)
14g.24261767G>CCA389277788TGM1c.436C>G (p.Pro146Ala)
c.-29+360C>G (n.-29+360C>G)
 dbSNP
14g.24261767G=CA2123855920TGM1c.436C= (p.Pro146=)
c.-29+360C= (n.-29+360C=)
14g.24261767G>TCA389277796TGM1c.436C>A (p.Pro146Thr)
c.-29+360C>A (n.-29+360C>A)
14g.24261768C>ACA389277797TGM1c.435G>T (p.Gln145His)
c.-29+359G>T (n.-29+359G>T)
14g.24261768C>GCA389277798TGM1c.435G>C (p.Gln145His)
c.-29+359G>C (n.-29+359G>C)
 gnomAD v4
14g.24261768C>TCA485665232TGM1c.435G>A (p.Gln145=)
c.-29+359G>A (n.-29+359G>A)
14g.24261769T>ACA389277802TGM1c.434A>T (p.Gln145Leu)
c.-29+358A>T (n.-29+358A>T)
14g.24261769T>CCA389277807TGM1c.434A>G (p.Gln145Arg)
c.-29+358A>G (n.-29+358A>G)
14g.24261769T>GCA389277817TGM1c.434A>C (p.Gln145Pro)
c.-29+358A>C (n.-29+358A>C)
14g.24261770G>ACA389277831TGM1c.433C>T (p.Gln145Ter)
c.-29+357C>T (n.-29+357C>T)
14g.24261770G>CCA389277829TGM1c.433C>G (p.Gln145Glu)
c.-29+357C>G (n.-29+357C>G)
14g.24261770G>TCA389277822TGM1c.433C>A (p.Gln145Lys)
c.-29+357C>A (n.-29+357C>A)
14g.24261771C>ACA485665235TGM1c.432G>T (p.Gly144=)
c.-29+356G>T (n.-29+356G>T)
 dbSNP gnomAD v3 gnomAD v4
14g.24261771C=CA2123855921TGM1c.432G= (p.Gly144=)
c.-29+356G= (n.-29+356G=)
14g.24261771C>GCA485665236TGM1c.432G>C (p.Gly144=)
c.-29+356G>C (n.-29+356G>C)
 ClinVar dbSNP
14g.24261771C>TCA7131413TGM1c.432G>A (p.Gly144=)
c.-29+356G>A (n.-29+356G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24261772C>ACA389277839TGM1c.431G>T (p.Gly144Val)
c.-29+355G>T (n.-29+355G>T)
14g.24261772C=CA2123855922TGM1c.431G= (p.Gly144=)
c.-29+355G= (n.-29+355G=)
14g.24261772C>GCA389277843TGM1c.431G>C (p.Gly144Ala)
c.-29+355G>C (n.-29+355G>C)
14g.24261772C>TCA389277846TGM1c.431G>A (p.Gly144Glu)
c.-29+355G>A (n.-29+355G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.24261773C>ACA389277851TGM1c.430G>T (p.Gly144Trp)
c.-29+354G>T (n.-29+354G>T)
14g.24261773C=CA2123855923TGM1c.430G= (p.Gly144=)
c.-29+354G= (n.-29+354G=)
14g.24261773C>GCA389277853TGM1c.430G>C (p.Gly144Arg)
c.-29+354G>C (n.-29+354G>C)
 ClinVar dbSNP
14g.24261773C>TCA7131414TGM1c.430G>A (p.Gly144Arg)
c.-29+354G>A (n.-29+354G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.24261774G>ACA7131415TGM1c.429C>T (p.Arg143=)
c.-29+353C>T (n.-29+353C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.24261774G>CCA485665240TGM1c.429C>G (p.Arg143=)
c.-29+353C>G (n.-29+353C>G)
 ClinVar dbSNP gnomAD v4
14g.24261774G=CA2123855924TGM1c.429C= (p.Arg143=)
c.-29+353C= (n.-29+353C=)
14g.24261774G>TCA485665241TGM1c.429C>A (p.Arg143=)
c.-29+353C>A (n.-29+353C>A)
 ClinVar
14g.24261775C>ACA389277886TGM1c.428G>T (p.Arg143Leu)
c.-29+352G>T (n.-29+352G>T)
14g.24261775C=CA2123855925TGM1c.428G= (p.Arg143=)
c.-29+352G= (n.-29+352G=)
14g.24261775C>GCA389277895TGM1c.428G>C (p.Arg143Pro)
c.-29+352G>C (n.-29+352G>C)
14g.24261775C>TCA256459TGM1c.428G>A (p.Arg143His)
c.-29+352G>A (n.-29+352G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched