Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.6869075C>GCA2617352642TPI1c.240-24C>G (n.240-24C>G)
c.351-24C>G (n.351-24C>G)
c.-7-24C>G (n.-7-24C>G)
n.973-24C>G
 gnomAD v4
12g.6869075C>TCA2575062072TPI1c.240-24C>T (n.240-24C>T)
c.351-24C>T (n.351-24C>T)
c.-7-24C>T (n.-7-24C>T)
n.973-24C>T
12g.6869076C=CA2014289040TPI1c.240-23C= (n.240-23C=)
c.351-23C= (n.351-23C=)
c.-7-23C= (n.-7-23C=)
n.973-23C=
12g.6869076C>GCA2014289041TPI1c.240-23C>G (n.240-23C>G)
c.351-23C>G (n.351-23C>G)
c.-7-23C>G (n.-7-23C>G)
n.973-23C>G
 dbSNP
12g.6869076C>TCA2617352643TPI1c.240-23C>T (n.240-23C>T)
c.351-23C>T (n.351-23C>T)
c.-7-23C>T (n.-7-23C>T)
n.973-23C>T
 gnomAD v4
12g.6869077T>ACA2794430980TPI1c.240-22T>A (n.240-22T>A)
c.351-22T>A (n.351-22T>A)
c.-7-22T>A (n.-7-22T>A)
n.973-22T>A
12g.6869077T>CCA2617352644TPI1c.240-22T>C (n.240-22T>C)
c.351-22T>C (n.351-22T>C)
c.-7-22T>C (n.-7-22T>C)
n.973-22T>C
 gnomAD v4
12g.6869078T>CCA2617352645TPI1c.240-21T>C (n.240-21T>C)
c.351-21T>C (n.351-21T>C)
c.-7-21T>C (n.-7-21T>C)
n.973-21T>C
 gnomAD v4
12g.6869079G>ACA6418888TPI1c.240-20G>A (n.240-20G>A)
c.351-20G>A (n.351-20G>A)
c.-7-20G>A (n.-7-20G>A)
n.973-20G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6869079G>CCA2617352646TPI1c.240-20G>C (n.240-20G>C)
c.351-20G>C (n.351-20G>C)
c.-7-20G>C (n.-7-20G>C)
n.973-20G>C
 gnomAD v4
12g.6869079G=CA2014289042TPI1c.240-20G= (n.240-20G=)
c.351-20G= (n.351-20G=)
c.-7-20G= (n.-7-20G=)
n.973-20G=
12g.6869080G>ACA2617352649TPI1c.240-19G>A (n.240-19G>A)
c.351-19G>A (n.351-19G>A)
c.-7-19G>A (n.-7-19G>A)
n.973-19G>A
 gnomAD v4
12g.6869080G=CA2014289043TPI1c.240-19G= (n.240-19G=)
c.351-19G= (n.351-19G=)
c.-7-19G= (n.-7-19G=)
n.973-19G=
12g.6869081C=CA2014289044TPI1c.240-18C= (n.240-18C=)
c.351-18C= (n.351-18C=)
c.-7-18C= (n.-7-18C=)
n.973-18C=
12g.6869081C>GCA691292183TPI1c.240-18C>G (n.240-18C>G)
c.351-18C>G (n.351-18C>G)
c.-7-18C>G (n.-7-18C>G)
n.973-18C>G
 dbSNP gnomAD v4
12g.6869082_6869138dupCA603486488TPI1c.240-17_279dup
c.351-17_390dup
c.-7-17_33dup
n.973-17_1012dup
 dbSNP gnomAD v2 gnomAD v4
12g.6869084delCA2794430981TPI1c.240-15del (n.240-15del)
c.351-15del (n.351-15del)
c.-7-15del (n.-7-15del)
n.973-15del
12g.6869085A=CA2014289045TPI1c.240-14A= (n.240-14A=)
c.351-14A= (n.351-14A=)
c.-7-14A= (n.-7-14A=)
n.973-14A=
12g.6869085A>CCA2617352650TPI1c.240-14A>C (n.240-14A>C)
c.351-14A>C (n.351-14A>C)
c.-7-14A>C (n.-7-14A>C)
n.973-14A>C
 gnomAD v4
12g.6869085A>GCA944389330TPI1c.240-14A>G (n.240-14A>G)
c.351-14A>G (n.351-14A>G)
c.-7-14A>G (n.-7-14A>G)
n.973-14A>G
 dbSNP gnomAD v3 gnomAD v4
12g.6869085A>TCA2794430982TPI1c.240-14A>T (n.240-14A>T)
c.351-14A>T (n.351-14A>T)
c.-7-14A>T (n.-7-14A>T)
n.973-14A>T
12g.6869086T>ACA944389333TPI1c.240-13T>A (n.240-13T>A)
c.351-13T>A (n.351-13T>A)
c.-7-13T>A (n.-7-13T>A)
n.973-13T>A
 dbSNP gnomAD v3 gnomAD v4
12g.6869086T>CCA2617352651TPI1c.240-13T>C (n.240-13T>C)
c.351-13T>C (n.351-13T>C)
c.-7-13T>C (n.-7-13T>C)
n.973-13T>C
 gnomAD v4
12g.6869086T=CA2014289046TPI1c.240-13T= (n.240-13T=)
c.351-13T= (n.351-13T=)
c.-7-13T= (n.-7-13T=)
n.973-13T=
12g.6869087C>GCA2575062073TPI1c.240-12C>G (n.240-12C>G)
c.351-12C>G (n.351-12C>G)
c.-7-12C>G (n.-7-12C>G)
n.973-12C>G
 gnomAD v4
12g.6869088T>GCA2527929474TPI1c.240-11T>G (n.240-11T>G)
c.351-11T>G (n.351-11T>G)
c.-7-11T>G (n.-7-11T>G)
n.973-11T>G
12g.6869089C>ACA2617352652TPI1c.240-10C>A (n.240-10C>A)
c.351-10C>A (n.351-10C>A)
c.-7-10C>A (n.-7-10C>A)
n.973-10C>A
 gnomAD v4
12g.6869089C=CA2014289047TPI1c.240-10C= (n.240-10C=)
c.351-10C= (n.351-10C=)
c.-7-10C= (n.-7-10C=)
n.973-10C=
12g.6869089C>GCA2617352653TPI1c.240-10C>G (n.240-10C>G)
c.351-10C>G (n.351-10C>G)
c.-7-10C>G (n.-7-10C>G)
n.973-10C>G
 gnomAD v4
12g.6869089C>TCA603486489TPI1c.240-10C>T (n.240-10C>T)
c.351-10C>T (n.351-10C>T)
c.-7-10C>T (n.-7-10C>T)
n.973-10C>T
 dbSNP gnomAD v2 gnomAD v4
12g.6869091_6869092delinsTCCA2014289048TPI1c.240-8_240-7delinsTC (n.240-8_240-7delinsTC)
c.351-8_351-7delinsTC (n.351-8_351-7delinsTC)
c.-7-8_-7-7delinsTC (n.-7-8_-7-7delinsTC)
n.973-8_973-7delinsTC
12g.6869092C=CA2014289049TPI1c.240-7C= (n.240-7C=)
c.351-7C= (n.351-7C=)
c.-7-7C= (n.-7-7C=)
n.973-7C=
12g.6869092C>TCA478164668TPI1c.240-7C>T (n.240-7C>T)
c.351-7C>T (n.351-7C>T)
c.-7-7C>T (n.-7-7C>T)
n.973-7C>T
 dbSNP gnomAD v4
12g.6869093delCA603486490TPI1c.240-6del (n.240-6del)
c.351-6del (n.351-6del)
c.-7-6del (n.-7-6del)
n.973-6del
 dbSNP gnomAD v2 gnomAD v4
12g.6869093C>ACA2014289051TPI1c.240-6C>A (n.240-6C>A)
c.351-6C>A (n.351-6C>A)
c.-7-6C>A (n.-7-6C>A)
n.973-6C>A
 dbSNP gnomAD v4
12g.6869093C=CA2014289050TPI1c.240-6C= (n.240-6C=)
c.351-6C= (n.351-6C=)
c.-7-6C= (n.-7-6C=)
n.973-6C=
12g.6869097A=CA2014289052TPI1c.240-2A= (n.240-2A=)
c.351-2A= (n.351-2A=)
c.-7-2A= (n.-7-2A=)
n.973-2A=
12g.6869097A>CCA383709720TPI1c.240-2A>C (n.240-2A>C)
c.351-2A>C (n.351-2A>C)
c.-7-2A>C (n.-7-2A>C)
n.973-2A>C
12g.6869097A>GCA6418889TPI1c.240-2A>G (n.240-2A>G)
c.351-2A>G (n.351-2A>G)
c.-7-2A>G (n.-7-2A>G)
n.973-2A>G
 dbSNP ExAC gnomAD v3 gnomAD v4
12g.6869097A>TCA383709719TPI1c.240-2A>T (n.240-2A>T)
c.351-2A>T (n.351-2A>T)
c.-7-2A>T (n.-7-2A>T)
n.973-2A>T
12g.6869098G>ACA383709722TPI1c.240-1G>A (n.240-1G>A)
c.351-1G>A (n.351-1G>A)
c.-7-1G>A (n.-7-1G>A)
n.973-1G>A
12g.6869098G>CCA383709724TPI1c.240-1G>C (n.240-1G>C)
c.351-1G>C (n.351-1G>C)
c.-7-1G>C (n.-7-1G>C)
n.973-1G>C
12g.6869098G>TCA383709725TPI1c.240-1G>T (n.240-1G>T)
c.351-1G>T (n.351-1G>T)
c.-7-1G>T (n.-7-1G>T)
n.973-1G>T
12g.6869099C>ACA383709727TPI1c.240C>A (p.Ser80Arg)
c.351C>A (p.Ser117Arg)
c.-7C>A (n.-7C>A)
n.973C>A
12g.6869099C=CA2014289053TPI1c.240C= (p.Ser80=)
c.351C= (p.Ser117=)
c.-7C= (n.-7C=)
n.973C=
12g.6869099C>GCA383709728TPI1c.240C>G (p.Ser80Arg)
c.351C>G (p.Ser117Arg)
c.-7C>G (n.-7C>G)
n.973C>G
 dbSNP
12g.6869099C>TCA478164669TPI1c.240C>T (p.Ser80=)
c.351C>T (p.Ser117=)
c.-7C>T (n.-7C>T)
n.973C>T
12g.6869100C>ACA383709733TPI1c.241C>A (p.Pro81Thr)
c.352C>A (p.Pro118Thr)
c.-6C>A (n.-6C>A)
n.974C>A
12g.6869100C>GCA383709732TPI1c.241C>G (p.Pro81Ala)
c.352C>G (p.Pro118Ala)
c.-6C>G (n.-6C>G)
n.974C>G
12g.6869100C>TCA383709730TPI1c.241C>T (p.Pro81Ser)
c.352C>T (p.Pro118Ser)
c.-6C>T (n.-6C>T)
n.974C>T
12g.6869101C>ACA383709735TPI1c.242C>A (p.Pro81His)
c.353C>A (p.Pro118His)
c.-5C>A (n.-5C>A)
n.975C>A
12g.6869101C>GCA383709736TPI1c.242C>G (p.Pro81Arg)
c.353C>G (p.Pro118Arg)
c.-5C>G (n.-5C>G)
n.975C>G
12g.6869101C>TCA383709738TPI1c.242C>T (p.Pro81Leu)
c.353C>T (p.Pro118Leu)
c.-5C>T (n.-5C>T)
n.975C>T
 COSMIC
12g.6869102T>ACA478164670TPI1c.243T>A (p.Pro81=)
c.354T>A (p.Pro118=)
c.-4T>A (n.-4T>A)
n.976T>A
12g.6869102T>CCA478164671TPI1c.243T>C (p.Pro81=)
c.354T>C (p.Pro118=)
c.-4T>C (n.-4T>C)
n.976T>C
12g.6869102T>GCA478164672TPI1c.243T>G (p.Pro81=)
c.354T>G (p.Pro118=)
c.-4T>G (n.-4T>G)
n.976T>G
12g.6869103G>ACA383709740TPI1c.244G>A (p.Gly82Ser)
c.355G>A (p.Gly119Ser)
c.-3G>A (n.-3G>A)
n.977G>A
12g.6869103G>CCA383709742TPI1c.244G>C (p.Gly82Arg)
c.355G>C (p.Gly119Arg)
c.-3G>C (n.-3G>C)
n.977G>C
12g.6869103G>TCA383709743TPI1c.244G>T (p.Gly82Cys)
c.355G>T (p.Gly119Cys)
c.-3G>T (n.-3G>T)
n.977G>T
12g.6869103_6869104delinsAACA645570870TPI1c.244_245delinsAA (p.Gly82Asn)
c.355_356delinsAA (p.Gly119Asn)
c.-3_-2delinsAA (n.-3_-2delinsAA)
n.977_978delinsAA
 COSMIC COSMIC
12g.6869104G>ACA383709746TPI1c.245G>A (p.Gly82Asp)
c.356G>A (p.Gly119Asp)
c.-2G>A (n.-2G>A)
n.978G>A
12g.6869104G>CCA383709748TPI1c.245G>C (p.Gly82Ala)
c.356G>C (p.Gly119Ala)
c.-2G>C (n.-2G>C)
n.978G>C
12g.6869104G>TCA383709747TPI1c.245G>T (p.Gly82Val)
c.356G>T (p.Gly119Val)
c.-2G>T (n.-2G>T)
n.978G>T
12g.6869105C>ACA478164673TPI1c.246C>A (p.Gly82=)
c.357C>A (p.Gly119=)
c.-1C>A (n.-1C>A)
n.979C>A
12g.6869105C>GCA478164675TPI1c.246C>G (p.Gly82=)
c.357C>G (p.Gly119=)
c.-1C>G (n.-1C>G)
n.979C>G
12g.6869105C>TCA478164674TPI1c.246C>T (p.Gly82=)
c.357C>T (p.Gly119=)
c.-1C>T (n.-1C>T)
n.979C>T
 gnomAD v4
12g.6869106A=CA2014289054TPI1c.247A= (p.Met83=)
c.358A= (p.Met120=)
c.1A= (p.Met1=)
n.980A=
12g.6869106A>CCA383709750TPI1c.247A>C (p.Met83Leu)
c.358A>C (p.Met120Leu)
c.1A>C (p.Met1Leu)
n.980A>C
12g.6869106A>GCA383709752TPI1c.247A>G (p.Met83Val)
c.358A>G (p.Met120Val)
c.1A>G (p.Met1Val)
n.980A>G
 dbSNP gnomAD v2 gnomAD v4
12g.6869106A>TCA383709753TPI1c.247A>T (p.Met83Leu)
c.358A>T (p.Met120Leu)
c.1A>T (p.Met1Leu)
n.980A>T
12g.6869107T>ACA383709755TPI1c.248T>A (p.Met83Lys)
c.359T>A (p.Met120Lys)
c.2T>A (p.Met1Lys)
n.981T>A
12g.6869107T>CCA383709757TPI1c.248T>C (p.Met83Thr)
c.359T>C (p.Met120Thr)
c.2T>C (p.Met1Thr)
n.981T>C
 ClinVar dbSNP gnomAD v4
12g.6869107T>GCA383709758TPI1c.248T>G (p.Met83Arg)
c.359T>G (p.Met120Arg)
c.2T>G (p.Met1Arg)
n.981T>G
12g.6869107T=CA2014289055TPI1c.248T= (p.Met83=)
c.359T= (p.Met120=)
c.2T= (p.Met1=)
n.981T=
12g.6869108G>ACA383709760TPI1c.249G>A (p.Met83Ile)
c.360G>A (p.Met120Ile)
c.3G>A (p.Met1Ile)
n.982G>A
12g.6869108G>CCA383709762TPI1c.249G>C (p.Met83Ile)
c.360G>C (p.Met120Ile)
c.3G>C (p.Met1Ile)
n.982G>C
12g.6869108G>TCA383709764TPI1c.249G>T (p.Met83Ile)
c.360G>T (p.Met120Ile)
c.3G>T (p.Met1Ile)
n.982G>T
12g.6869109A=CA2014289056TPI1c.250A= (p.Ile84=)
c.361A= (p.Ile121=)
c.4A= (p.Ile2=)
n.983A=
12g.6869109A>CCA383709765TPI1c.250A>C (p.Ile84Leu)
c.361A>C (p.Ile121Leu)
c.4A>C (p.Ile2Leu)
n.983A>C
12g.6869109A>GCA383709766TPI1c.250A>G (p.Ile84Val)
c.361A>G (p.Ile121Val)
c.4A>G (p.Ile2Val)
n.983A>G
12g.6869109A>TCA383709767TPI1c.250A>T (p.Ile84Phe)
c.361A>T (p.Ile121Phe)
c.4A>T (p.Ile2Phe)
n.983A>T
 dbSNP gnomAD v4
12g.6869110T>ACA383709771TPI1c.251T>A (p.Ile84Asn)
c.362T>A (p.Ile121Asn)
c.5T>A (p.Ile2Asn)
n.984T>A
12g.6869110T>CCA383709772TPI1c.251T>C (p.Ile84Thr)
c.362T>C (p.Ile121Thr)
c.5T>C (p.Ile2Thr)
n.984T>C
12g.6869110T>GCA383709769TPI1c.251T>G (p.Ile84Ser)
c.362T>G (p.Ile121Ser)
c.5T>G (p.Ile2Ser)
n.984T>G
12g.6869111C>ACA478164676TPI1c.252C>A (p.Ile84=)
c.363C>A (p.Ile121=)
c.6C>A (p.Ile2=)
n.985C>A
12g.6869111C>GCA383709774TPI1c.252C>G (p.Ile84Met)
c.363C>G (p.Ile121Met)
c.6C>G (p.Ile2Met)
n.985C>G
12g.6869111C>TCA478164677TPI1c.252C>T (p.Ile84=)
c.363C>T (p.Ile121=)
c.6C>T (p.Ile2=)
n.985C>T
12g.6869112A>CCA383709777TPI1c.253A>C (p.Lys85Gln)
c.364A>C (p.Lys122Gln)
c.7A>C (p.Lys3Gln)
n.986A>C
12g.6869112A>GCA383709775TPI1c.253A>G (p.Lys85Glu)
c.364A>G (p.Lys122Glu)
c.7A>G (p.Lys3Glu)
n.986A>G
12g.6869112A>TCA383709778TPI1c.253A>T (p.Lys85Ter)
c.364A>T (p.Lys122Ter)
c.7A>T (p.Lys3Ter)
n.986A>T
12g.6869113A>CCA383709780TPI1c.254A>C (p.Lys85Thr)
c.365A>C (p.Lys122Thr)
c.8A>C (p.Lys3Thr)
n.987A>C
12g.6869113A>GCA383709781TPI1c.254A>G (p.Lys85Arg)
c.365A>G (p.Lys122Arg)
c.8A>G (p.Lys3Arg)
n.987A>G
 gnomAD v4
12g.6869113A>TCA383709783TPI1c.254A>T (p.Lys85Ile)
c.365A>T (p.Lys122Ile)
c.8A>T (p.Lys3Ile)
n.987A>T
12g.6869114A>CCA383709785TPI1c.255A>C (p.Lys85Asn)
c.366A>C (p.Lys122Asn)
c.9A>C (p.Lys3Asn)
n.988A>C
12g.6869114A>GCA478164678TPI1c.255A>G (p.Lys85=)
c.366A>G (p.Lys122=)
c.9A>G (p.Lys3=)
n.988A>G
12g.6869114A>TCA383709787TPI1c.255A>T (p.Lys85Asn)
c.366A>T (p.Lys122Asn)
c.9A>T (p.Lys3Asn)
n.988A>T
12g.6869115G>ACA383709788TPI1c.256G>A (p.Asp86Asn)
c.367G>A (p.Asp123Asn)
c.10G>A (p.Asp4Asn)
n.989G>A
12g.6869115G>CCA383709790TPI1c.256G>C (p.Asp86His)
c.367G>C (p.Asp123His)
c.10G>C (p.Asp4His)
n.989G>C
12g.6869115G>TCA383709792TPI1c.256G>T (p.Asp86Tyr)
c.367G>T (p.Asp123Tyr)
c.10G>T (p.Asp4Tyr)
n.989G>T
 gnomAD v4
12g.6869116A>CCA383709793TPI1c.257A>C (p.Asp86Ala)
c.368A>C (p.Asp123Ala)
c.11A>C (p.Asp4Ala)
n.990A>C
 gnomAD v4
12g.6869116A>GCA383709794TPI1c.257A>G (p.Asp86Gly)
c.368A>G (p.Asp123Gly)
c.11A>G (p.Asp4Gly)
n.990A>G
 COSMIC COSMIC
12g.6869116A>TCA383709796TPI1c.257A>T (p.Asp86Val)
c.368A>T (p.Asp123Val)
c.11A>T (p.Asp4Val)
n.990A>T
12g.6869116_6869117insTCA2794430987TPI1c.257_258insT (p.Cys87LeufsTer22)
c.368_369insT (p.Cys124LeufsTer22)
c.11_12insT (p.Cys5LeufsTer22)
n.990_991insT
12g.6869117C>ACA383709800TPI1c.258C>A (p.Asp86Glu)
c.369C>A (p.Asp123Glu)
c.12C>A (p.Asp4Glu)
n.991C>A
 gnomAD v4
12g.6869117C>GCA383709798TPI1c.258C>G (p.Asp86Glu)
c.369C>G (p.Asp123Glu)
c.12C>G (p.Asp4Glu)
n.991C>G
12g.6869117C>TCA478164679TPI1c.258C>T (p.Asp86=)
c.369C>T (p.Asp123=)
c.12C>T (p.Asp4=)
n.991C>T
12g.6869118T>ACA383709802TPI1c.259T>A (p.Cys87Ser)
c.370T>A (p.Cys124Ser)
c.13T>A (p.Cys5Ser)
n.992T>A
12g.6869118T>CCA383709804TPI1c.259T>C (p.Cys87Arg)
c.370T>C (p.Cys124Arg)
c.13T>C (p.Cys5Arg)
n.992T>C
12g.6869118T>GCA383709805TPI1c.259T>G (p.Cys87Gly)
c.370T>G (p.Cys124Gly)
c.13T>G (p.Cys5Gly)
n.992T>G
12g.6869119delCA2794430988TPI1c.260del (p.Cys87SerfsTer23)
c.371del (p.Cys124SerfsTer23)
c.14del (p.Cys5SerfsTer23)
n.993del
12g.6869119G>ACA383709807TPI1c.260G>A (p.Cys87Tyr)
c.371G>A (p.Cys124Tyr)
c.14G>A (p.Cys5Tyr)
n.993G>A
12g.6869119G>CCA383709809TPI1c.260G>C (p.Cys87Ser)
c.371G>C (p.Cys124Ser)
c.14G>C (p.Cys5Ser)
n.993G>C
12g.6869119G>TCA383709811TPI1c.260G>T (p.Cys87Phe)
c.371G>T (p.Cys124Phe)
c.14G>T (p.Cys5Phe)
n.993G>T
12g.6869120C>ACA383709813TPI1c.261C>A (p.Cys87Ter)
c.372C>A (p.Cys124Ter)
c.15C>A (p.Cys5Ter)
n.994C>A
12g.6869120C=CA2014289057TPI1c.261C= (p.Cys87=)
c.372C= (p.Cys124=)
c.15C= (p.Cys5=)
n.994C=
12g.6869120C>GCA383709815TPI1c.261C>G (p.Cys87Trp)
c.372C>G (p.Cys124Trp)
c.15C>G (p.Cys5Trp)
n.994C>G
 dbSNP gnomAD v3 gnomAD v4
12g.6869120C>TCA6418890TPI1c.261C>T (p.Cys87=)
c.372C>T (p.Cys124=)
c.15C>T (p.Cys5=)
n.994C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6869120dupCA2617352667TPI1c.261dup (p.Gly88ArgfsTer21)
c.372dup (p.Gly125ArgfsTer21)
c.15dup (p.Gly6ArgfsTer21)
n.994dup
 gnomAD v4
12g.6869121G>ACA232421334TPI1c.262G>A (p.Gly88Arg)
c.373G>A (p.Gly125Arg)
c.16G>A (p.Gly6Arg)
n.995G>A
 dbSNP gnomAD v2 gnomAD v4
12g.6869121G>CCA383709818TPI1c.262G>C (p.Gly88Arg)
c.373G>C (p.Gly125Arg)
c.16G>C (p.Gly6Arg)
n.995G>C
12g.6869121G=CA2014289058TPI1c.262G= (p.Gly88=)
c.373G= (p.Gly125=)
c.16G= (p.Gly6=)
n.995G=
12g.6869121G>TCA383709821TPI1c.262G>T (p.Gly88Ter)
c.373G>T (p.Gly125Ter)
c.16G>T (p.Gly6Ter)
n.995G>T
12g.6869122G>ACA383709826TPI1c.263G>A (p.Gly88Glu)
c.374G>A (p.Gly125Glu)
c.17G>A (p.Gly6Glu)
n.996G>A
12g.6869122G>CCA383709829TPI1c.263G>C (p.Gly88Ala)
c.374G>C (p.Gly125Ala)
c.17G>C (p.Gly6Ala)
n.996G>C
 dbSNP
12g.6869122G=CA2014289059TPI1c.263G= (p.Gly88=)
c.374G= (p.Gly125=)
c.17G= (p.Gly6=)
n.996G=
12g.6869122G>TCA383709825TPI1c.263G>T (p.Gly88Val)
c.374G>T (p.Gly125Val)
c.17G>T (p.Gly6Val)
n.996G>T
12g.6869123A>CCA478164680TPI1c.264A>C (p.Gly88=)
c.375A>C (p.Gly125=)
c.18A>C (p.Gly6=)
n.997A>C
12g.6869123A>GCA478164681TPI1c.264A>G (p.Gly88=)
c.375A>G (p.Gly125=)
c.18A>G (p.Gly6=)
n.997A>G
 gnomAD v4
12g.6869123A>TCA478164682TPI1c.264A>T (p.Gly88=)
c.375A>T (p.Gly125=)
c.18A>T (p.Gly6=)
n.997A>T
12g.6869124G>ACA383709836TPI1c.265G>A (p.Ala89Thr)
c.376G>A (p.Ala126Thr)
c.19G>A (p.Ala7Thr)
n.998G>A
 COSMIC COSMIC
12g.6869124G>CCA383709839TPI1c.265G>C (p.Ala89Pro)
c.376G>C (p.Ala126Pro)
c.19G>C (p.Ala7Pro)
n.998G>C
 dbSNP
12g.6869124G=CA2014289060TPI1c.265G= (p.Ala89=)
c.376G= (p.Ala126=)
c.19G= (p.Ala7=)
n.998G=
12g.6869124G>TCA383709841TPI1c.265G>T (p.Ala89Ser)
c.376G>T (p.Ala126Ser)
c.19G>T (p.Ala7Ser)
n.998G>T
12g.6869125C>ACA383709846TPI1c.266C>A (p.Ala89Asp)
c.377C>A (p.Ala126Asp)
c.20C>A (p.Ala7Asp)
n.999C>A
12g.6869125C>GCA383709848TPI1c.266C>G (p.Ala89Gly)
c.377C>G (p.Ala126Gly)
c.20C>G (p.Ala7Gly)
n.999C>G
12g.6869125C>TCA383709850TPI1c.266C>T (p.Ala89Val)
c.377C>T (p.Ala126Val)
c.20C>T (p.Ala7Val)
n.999C>T
12g.6869126C>ACA478164683TPI1c.267C>A (p.Ala89=)
c.378C>A (p.Ala126=)
c.21C>A (p.Ala7=)
n.1000C>A
12g.6869126C>GCA478164684TPI1c.267C>G (p.Ala89=)
c.378C>G (p.Ala126=)
c.21C>G (p.Ala7=)
n.1000C>G
12g.6869126C>TCA478164685TPI1c.267C>T (p.Ala89=)
c.378C>T (p.Ala126=)
c.21C>T (p.Ala7=)
n.1000C>T
12g.6869127A=CA2014289061TPI1c.268A= (p.Thr90=)
c.379A= (p.Thr127=)
c.22A= (p.Thr8=)
n.1001A=
12g.6869127A>CCA383709853TPI1c.268A>C (p.Thr90Pro)
c.379A>C (p.Thr127Pro)
c.22A>C (p.Thr8Pro)
n.1001A>C
12g.6869127A>GCA383709858TPI1c.268A>G (p.Thr90Ala)
c.379A>G (p.Thr127Ala)
c.22A>G (p.Thr8Ala)
n.1001A>G
12g.6869127A>TCA383709854TPI1c.268A>T (p.Thr90Ser)
c.379A>T (p.Thr127Ser)
c.22A>T (p.Thr8Ser)
n.1001A>T
12g.6869128C>ACA383709860TPI1c.269C>A (p.Thr90Lys)
c.380C>A (p.Thr127Lys)
c.23C>A (p.Thr8Lys)
n.1002C>A
12g.6869128C=CA2014289063TPI1c.269C= (p.Thr90=)
c.380C= (p.Thr127=)
c.23C= (p.Thr8=)
n.1002C=
12g.6869128C>GCA383709862TPI1c.269C>G (p.Thr90Arg)
c.380C>G (p.Thr127Arg)
c.23C>G (p.Thr8Arg)
n.1002C>G
12g.6869128C>TCA6418891TPI1c.269C>T (p.Thr90Met)
c.380C>T (p.Thr127Met)
c.23C>T (p.Thr8Met)
n.1002C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6869128_6869129insAGCAATCTTGGGATCTAGCTTCTGCCGGGCCA2014289062TPI1c.269_270insAGCAATCTTGGGATCTAGCTTCTGCCGGGC (p.Thr90_Trp91insAlaIleLeuGlySerSerPheCysArgAla)
c.380_381insAGCAATCTTGGGATCTAGCTTCTGCCGGGC (p.Thr127_Trp128insAlaIleLeuGlySerSerPheCysArgAla)
c.23_24insAGCAATCTTGGGATCTAGCTTCTGCCGGGC (p.Thr8_Trp9insAlaIleLeuGlySerSerPheCysArgAla)
n.1002_1003insAGCAATCTTGGGATCTAGCTTCTGCCGGGC
 dbSNP
12g.6869129G>ACA478164686TPI1c.270G>A (p.Thr90=)
c.381G>A (p.Thr127=)
c.24G>A (p.Thr8=)
n.1003G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6869129G>CCA478164687TPI1c.270G>C (p.Thr90=)
c.381G>C (p.Thr127=)
c.24G>C (p.Thr8=)
n.1003G>C
12g.6869129G=CA2014289064TPI1c.270G= (p.Thr90=)
c.381G= (p.Thr127=)
c.24G= (p.Thr8=)
n.1003G=
12g.6869129G>TCA6418892TPI1c.270G>T (p.Thr90=)
c.381G>T (p.Thr127=)
c.24G>T (p.Thr8=)
n.1003G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6869130T>ACA383709871TPI1c.271T>A (p.Trp91Arg)
c.382T>A (p.Trp128Arg)
c.25T>A (p.Trp9Arg)
n.1004T>A
12g.6869130T>CCA383709877TPI1c.271T>C (p.Trp91Arg)
c.382T>C (p.Trp128Arg)
c.25T>C (p.Trp9Arg)
n.1004T>C
 gnomAD v4
12g.6869130T>GCA383709873TPI1c.271T>G (p.Trp91Gly)
c.382T>G (p.Trp128Gly)
c.25T>G (p.Trp9Gly)
n.1004T>G
12g.6869130_6869132delinsTGGCA2014289065TPI1c.271_273delinsTGG (p.Trp91=)
c.382_384delinsTGG (p.Trp128=)
c.25_27delinsTGG (p.Trp9=)
n.1004_1006delinsTGG
12g.6869131G>ACA383709878TPI1c.272G>A (p.Trp91Ter)
c.383G>A (p.Trp128Ter)
c.26G>A (p.Trp9Ter)
n.1005G>A
12g.6869131G>CCA383709880TPI1c.272G>C (p.Trp91Ser)
c.383G>C (p.Trp128Ser)
c.26G>C (p.Trp9Ser)
n.1005G>C
12g.6869131G>TCA383709885TPI1c.272G>T (p.Trp91Leu)
c.383G>T (p.Trp128Leu)
c.26G>T (p.Trp9Leu)
n.1005G>T
12g.6869132_6869133delCA603486491TPI1c.273_274del (p.Trp91CysfsTer17)
c.384_385del (p.Trp128CysfsTer17)
c.27_28del (p.Trp9CysfsTer17)
n.1006_1007del
 dbSNP gnomAD v2 gnomAD v4
12g.6869132G>ACA383709888TPI1c.273G>A (p.Trp91Ter)
c.384G>A (p.Trp128Ter)
c.27G>A (p.Trp9Ter)
n.1006G>A
12g.6869132G>CCA383709892TPI1c.273G>C (p.Trp91Cys)
c.384G>C (p.Trp128Cys)
c.27G>C (p.Trp9Cys)
n.1006G>C
12g.6869132G>TCA383709895TPI1c.273G>T (p.Trp91Cys)
c.384G>T (p.Trp128Cys)
c.27G>T (p.Trp9Cys)
n.1006G>T
12g.6869133G>ACA383709899TPI1c.274G>A (p.Val92Met)
c.385G>A (p.Val129Met)
c.28G>A (p.Val10Met)
n.1007G>A
12g.6869133G>CCA383709900TPI1c.274G>C (p.Val92Leu)
c.385G>C (p.Val129Leu)
c.28G>C (p.Val10Leu)
n.1007G>C
12g.6869133G>TCA383709901TPI1c.274G>T (p.Val92Leu)
c.385G>T (p.Val129Leu)
c.28G>T (p.Val10Leu)
n.1007G>T
12g.6869134T>ACA383709902TPI1c.275T>A (p.Val92Glu)
c.386T>A (p.Val129Glu)
c.29T>A (p.Val10Glu)
n.1008T>A
12g.6869134T>CCA6418893TPI1c.275T>C (p.Val92Ala)
c.386T>C (p.Val129Ala)
c.29T>C (p.Val10Ala)
n.1008T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.6869134T>GCA383709903TPI1c.275T>G (p.Val92Gly)
c.386T>G (p.Val129Gly)
c.29T>G (p.Val10Gly)
n.1008T>G
12g.6869134T=CA2014289066TPI1c.275T= (p.Val92=)
c.386T= (p.Val129=)
c.29T= (p.Val10=)
n.1008T=
12g.6869135G>ACA478164690TPI1c.276G>A (p.Val92=)
c.387G>A (p.Val129=)
c.30G>A (p.Val10=)
n.1009G>A
 gnomAD v4
12g.6869135G>CCA478164689TPI1c.276G>C (p.Val92=)
c.387G>C (p.Val129=)
c.30G>C (p.Val10=)
n.1009G>C
12g.6869135G>TCA478164688TPI1c.276G>T (p.Val92=)
c.387G>T (p.Val129=)
c.30G>T (p.Val10=)
n.1009G>T
12g.6869136G>ACA383709906TPI1c.277G>A (p.Val93Ile)
c.388G>A (p.Val130Ile)
c.31G>A (p.Val11Ile)
n.1010G>A
 gnomAD v4
12g.6869136G>CCA383709909TPI1c.277G>C (p.Val93Leu)
c.388G>C (p.Val130Leu)
c.31G>C (p.Val11Leu)
n.1010G>C
12g.6869136G>TCA383709904TPI1c.277G>T (p.Val93Phe)
c.388G>T (p.Val130Phe)
c.31G>T (p.Val11Phe)
n.1010G>T
12g.6869137T>ACA383709917TPI1c.278T>A (p.Val93Asp)
c.389T>A (p.Val130Asp)
c.32T>A (p.Val11Asp)
n.1011T>A
12g.6869137T>CCA383709911TPI1c.278T>C (p.Val93Ala)
c.389T>C (p.Val130Ala)
c.32T>C (p.Val11Ala)
n.1011T>C
12g.6869137T>GCA383709915TPI1c.278T>G (p.Val93Gly)
c.389T>G (p.Val130Gly)
c.32T>G (p.Val11Gly)
n.1011T>G
12g.6869138C>ACA478164691TPI1c.279C>A (p.Val93=)
c.390C>A (p.Val130=)
c.33C>A (p.Val11=)
n.1012C>A
12g.6869138C=CA2014289067TPI1c.279C= (p.Val93=)
c.390C= (p.Val130=)
c.33C= (p.Val11=)
n.1012C=
12g.6869138C>GCA478164692TPI1c.279C>G (p.Val93=)
c.390C>G (p.Val130=)
c.33C>G (p.Val11=)
n.1012C>G
 dbSNP
12g.6869138C>TCA232421343TPI1c.279C>T (p.Val93=)
c.390C>T (p.Val130=)
c.33C>T (p.Val11=)
n.1012C>T
 dbSNP gnomAD v4
12g.6869139C>ACA383709920TPI1c.280C>A (p.Leu94Met)
c.391C>A (p.Leu131Met)
c.34C>A (p.Leu12Met)
n.1013C>A
 COSMIC
12g.6869139C=CA2014289068TPI1c.280C= (p.Leu94=)
c.391C= (p.Leu131=)
c.34C= (p.Leu12=)
n.1013C=
12g.6869139C>GCA383709923TPI1c.280C>G (p.Leu94Val)
c.391C>G (p.Leu131Val)
c.34C>G (p.Leu12Val)
n.1013C>G
12g.6869139C>TCA478164693TPI1c.280C>T (p.Leu94=)
c.391C>T (p.Leu131=)
c.34C>T (p.Leu12=)
n.1013C>T
12g.6869140T>ACA383709927TPI1c.281T>A (p.Leu94Gln)
c.392T>A (p.Leu131Gln)
c.35T>A (p.Leu12Gln)
n.1014T>A
12g.6869140T>CCA383709930TPI1c.281T>C (p.Leu94Pro)
c.392T>C (p.Leu131Pro)
c.35T>C (p.Leu12Pro)
n.1014T>C
 gnomAD v4
12g.6869140T>GCA383709936TPI1c.281T>G (p.Leu94Arg)
c.392T>G (p.Leu131Arg)
c.35T>G (p.Leu12Arg)
n.1014T>G
12g.6869140_6869143dupCA2014289069TPI1c.281_284dup (p.His96GlyfsTer14)
c.392_395dup (p.His133GlyfsTer14)
c.35_38dup (p.His14GlyfsTer14)
n.1014_1017dup
 dbSNP
12g.6869141G>ACA478164694TPI1c.282G>A (p.Leu94=)
c.393G>A (p.Leu131=)
c.36G>A (p.Leu12=)
n.1015G>A
12g.6869141G>CCA478164695TPI1c.282G>C (p.Leu94=)
c.393G>C (p.Leu131=)
c.36G>C (p.Leu12=)
n.1015G>C
12g.6869141G>TCA478164696TPI1c.282G>T (p.Leu94=)
c.393G>T (p.Leu131=)
c.36G>T (p.Leu12=)
n.1015G>T
12g.6869144delCA2617352678TPI1c.285del (p.His96ThrfsTer14)
c.396del (p.His133ThrfsTer14)
c.39del (p.His14ThrfsTer14)
n.1018del
 gnomAD v4
12g.6869142G>ACA383709939TPI1c.283G>A (p.Gly95Arg)
c.394G>A (p.Gly132Arg)
c.37G>A (p.Gly13Arg)
n.1016G>A
12g.6869142G>CCA383709943TPI1c.283G>C (p.Gly95Arg)
c.394G>C (p.Gly132Arg)
c.37G>C (p.Gly13Arg)
n.1016G>C
12g.6869142G>TCA383709947TPI1c.283G>T (p.Gly95Trp)
c.394G>T (p.Gly132Trp)
c.37G>T (p.Gly13Trp)
n.1016G>T
12g.6869143G>ACA383709949TPI1c.284G>A (p.Gly95Glu)
c.395G>A (p.Gly132Glu)
c.38G>A (p.Gly13Glu)
n.1017G>A
12g.6869143G>CCA383709952TPI1c.284G>C (p.Gly95Ala)
c.395G>C (p.Gly132Ala)
c.38G>C (p.Gly13Ala)
n.1017G>C
12g.6869143G>TCA383709956TPI1c.284G>T (p.Gly95Val)
c.395G>T (p.Gly132Val)
c.38G>T (p.Gly13Val)
n.1017G>T
12g.6869144G>ACA478164697TPI1c.285G>A (p.Gly95=)
c.396G>A (p.Gly132=)
c.39G>A (p.Gly13=)
n.1018G>A
 dbSNP gnomAD v4
12g.6869144G>CCA478164698TPI1c.285G>C (p.Gly95=)
c.396G>C (p.Gly132=)
c.39G>C (p.Gly13=)
n.1018G>C
12g.6869144G=CA2014289070TPI1c.285G= (p.Gly95=)
c.396G= (p.Gly132=)
c.39G= (p.Gly13=)
n.1018G=
12g.6869144G>TCA478164700TPI1c.285G>T (p.Gly95=)
c.396G>T (p.Gly132=)
c.39G>T (p.Gly13=)
n.1018G>T
12g.6869145C>ACA383709965TPI1c.286C>A (p.His96Asn)
c.397C>A (p.His133Asn)
c.40C>A (p.His14Asn)
n.1019C>A
12g.6869145C>GCA383709959TPI1c.286C>G (p.His96Asp)
c.397C>G (p.His133Asp)
c.40C>G (p.His14Asp)
n.1019C>G
12g.6869145C>TCA383709961TPI1c.286C>T (p.His96Tyr)
c.397C>T (p.His133Tyr)
c.40C>T (p.His14Tyr)
n.1019C>T
12g.6869147_6869177dupCA944389345TPI1c.288_318dup (p.Asp107LeufsTer12)
c.399_429dup (p.Asp144LeufsTer12)
c.42_72dup (p.Asp25LeufsTer12)
n.1021_1051dup
 dbSNP gnomAD v3 gnomAD v4
12g.6869146A>CCA383709967TPI1c.287A>C (p.His96Pro)
c.398A>C (p.His133Pro)
c.41A>C (p.His14Pro)
n.1020A>C
12g.6869146A>GCA383709970TPI1c.287A>G (p.His96Arg)
c.398A>G (p.His133Arg)
c.41A>G (p.His14Arg)
n.1020A>G
12g.6869146A>TCA383709973TPI1c.287A>T (p.His96Leu)
c.398A>T (p.His133Leu)
c.41A>T (p.His14Leu)
n.1020A>T
12g.6869147C>ACA383709978TPI1c.288C>A (p.His96Gln)
c.399C>A (p.His133Gln)
c.42C>A (p.His14Gln)
n.1021C>A
12g.6869147C=CA2014289071TPI1c.288C= (p.His96=)
c.399C= (p.His133=)
c.42C= (p.His14=)
n.1021C=
12g.6869147C>GCA383709981TPI1c.288C>G (p.His96Gln)
c.399C>G (p.His133Gln)
c.42C>G (p.His14Gln)
n.1021C>G
12g.6869147C>TCA6418894TPI1c.288C>T (p.His96=)
c.399C>T (p.His133=)
c.42C>T (p.His14=)
n.1021C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6869148T>ACA383709987TPI1c.289T>A (p.Ser97Thr)
c.400T>A (p.Ser134Thr)
c.43T>A (p.Ser15Thr)
n.1022T>A
12g.6869148T>CCA383709990TPI1c.289T>C (p.Ser97Pro)
c.400T>C (p.Ser134Pro)
c.43T>C (p.Ser15Pro)
n.1022T>C
12g.6869148T>GCA383709993TPI1c.289T>G (p.Ser97Ala)
c.400T>G (p.Ser134Ala)
c.43T>G (p.Ser15Ala)
n.1022T>G
12g.6869149C>ACA383709996TPI1c.290C>A (p.Ser97Ter)
c.401C>A (p.Ser134Ter)
c.44C>A (p.Ser15Ter)
n.1023C>A
12g.6869149C=CA2014289072TPI1c.290C= (p.Ser97=)
c.401C= (p.Ser134=)
c.44C= (p.Ser15=)
n.1023C=
12g.6869149C>GCA383709998TPI1c.290C>G (p.Ser97Ter)
c.401C>G (p.Ser134Ter)
c.44C>G (p.Ser15Ter)
n.1023C>G
 dbSNP COSMIC
12g.6869149C>TCA383710002TPI1c.290C>T (p.Ser97Leu)
c.401C>T (p.Ser134Leu)
c.44C>T (p.Ser15Leu)
n.1023C>T
 dbSNP gnomAD v2
12g.6869150A>CCA478164702TPI1c.291A>C (p.Ser97=)
c.402A>C (p.Ser134=)
c.45A>C (p.Ser15=)
n.1024A>C
12g.6869150A>GCA478164703TPI1c.291A>G (p.Ser97=)
c.402A>G (p.Ser134=)
c.45A>G (p.Ser15=)
n.1024A>G
12g.6869150A>TCA478164704TPI1c.291A>T (p.Ser97=)
c.402A>T (p.Ser134=)
c.45A>T (p.Ser15=)
n.1024A>T
12g.6869150dupCA2575062075TPI1c.291dup (p.Glu98ArgfsTer11)
c.402dup (p.Glu135ArgfsTer11)
c.45dup (p.Glu16ArgfsTer11)
n.1024dup
 gnomAD v4
12g.6869155_6869156delCA2617352682TPI1c.296_297del (p.Arg99LysfsTer9)
c.407_408del (p.Arg136LysfsTer9)
c.50_51del (p.Arg17LysfsTer9)
n.1029_1030del
 gnomAD v4
12g.6869153_6869156delCA2575062074TPI1c.294_297del (p.Arg99GlyfsTer10)
c.405_408del (p.Arg136GlyfsTer10)
c.48_51del (p.Arg17GlyfsTer10)
n.1027_1030del
 gnomAD v4
12g.6869151G>ACA383710008TPI1c.292G>A (p.Glu98Lys)
c.403G>A (p.Glu135Lys)
c.46G>A (p.Glu16Lys)
n.1025G>A
 ClinVar
12g.6869151G>CCA383710007TPI1c.292G>C (p.Glu98Gln)
c.403G>C (p.Glu135Gln)
c.46G>C (p.Glu16Gln)
n.1025G>C
12g.6869151G>TCA383710005TPI1c.292G>T (p.Glu98Ter)
c.403G>T (p.Glu135Ter)
c.46G>T (p.Glu16Ter)
n.1025G>T
12g.6869152A>CCA383710010TPI1c.293A>C (p.Glu98Ala)
c.404A>C (p.Glu135Ala)
c.47A>C (p.Glu16Ala)
n.1026A>C
12g.6869152A>GCA383710013TPI1c.293A>G (p.Glu98Gly)
c.404A>G (p.Glu135Gly)
c.47A>G (p.Glu16Gly)
n.1026A>G
 COSMIC COSMIC
12g.6869152A>TCA383710017TPI1c.293A>T (p.Glu98Val)
c.404A>T (p.Glu135Val)
c.47A>T (p.Glu16Val)
n.1026A>T
12g.6869153G>ACA6418895TPI1c.294G>A (p.Glu98=)
c.405G>A (p.Glu135=)
c.48G>A (p.Glu16=)
n.1027G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6869153G>CCA383710022TPI1c.294G>C (p.Glu98Asp)
c.405G>C (p.Glu135Asp)
c.48G>C (p.Glu16Asp)
n.1027G>C
12g.6869153G=CA2014289073TPI1c.294G= (p.Glu98=)
c.405G= (p.Glu135=)
c.48G= (p.Glu16=)
n.1027G=
12g.6869153G>TCA383710025TPI1c.294G>T (p.Glu98Asp)
c.405G>T (p.Glu135Asp)
c.48G>T (p.Glu16Asp)
n.1027G>T
12g.6869154A=CA2014289074TPI1c.295A= (p.Arg99=)
c.406A= (p.Arg136=)
c.49A= (p.Arg17=)
n.1028A=
12g.6869154A>CCA478164705TPI1c.295A>C (p.Arg99=)
c.406A>C (p.Arg136=)
c.49A>C (p.Arg17=)
n.1028A>C
12g.6869154A>GCA383710027TPI1c.295A>G (p.Arg99Gly)
c.406A>G (p.Arg136Gly)
c.49A>G (p.Arg17Gly)
n.1028A>G
 dbSNP gnomAD v2
12g.6869154A>TCA383710030TPI1c.295A>T (p.Arg99Ter)
c.406A>T (p.Arg136Ter)
c.49A>T (p.Arg17Ter)
n.1028A>T
12g.6869154dupCA691292310TPI1c.295dup (p.Arg99LysfsTer10)
c.406dup (p.Arg136LysfsTer10)
c.49dup (p.Arg17LysfsTer10)
n.1028dup
 dbSNP gnomAD v3 gnomAD v4
12g.6869155G>ACA383710036TPI1c.296G>A (p.Arg99Lys)
c.407G>A (p.Arg136Lys)
c.50G>A (p.Arg17Lys)
n.1029G>A
12g.6869155G>CCA383710039TPI1c.296G>C (p.Arg99Thr)
c.407G>C (p.Arg136Thr)
c.50G>C (p.Arg17Thr)
n.1029G>C
12g.6869155G>TCA383710040TPI1c.296G>T (p.Arg99Ile)
c.407G>T (p.Arg136Ile)
c.50G>T (p.Arg17Ile)
n.1029G>T
12g.6869156A>CCA383710041TPI1c.297A>C (p.Arg99Ser)
c.408A>C (p.Arg136Ser)
c.51A>C (p.Arg17Ser)
n.1030A>C
 gnomAD v4 COSMIC COSMIC
12g.6869156A>GCA478164706TPI1c.297A>G (p.Arg99=)
c.408A>G (p.Arg136=)
c.51A>G (p.Arg17=)
n.1030A>G
12g.6869156A>TCA383710043TPI1c.297A>T (p.Arg99Ser)
c.408A>T (p.Arg136Ser)
c.51A>T (p.Arg17Ser)
n.1030A>T
12g.6869160_6869209delCA2617352687TPI1c.301_324+26del
c.412_435+26del
c.55_78+26del
n.1034_1057+26del
 gnomAD v4
12g.6869157A>CCA478164707TPI1c.298A>C (p.Arg100=)
c.409A>C (p.Arg137=)
c.52A>C (p.Arg18=)
n.1031A>C
12g.6869157A>GCA383710046TPI1c.298A>G (p.Arg100Gly)
c.409A>G (p.Arg137Gly)
c.52A>G (p.Arg18Gly)
n.1031A>G
12g.6869157A>TCA383710044TPI1c.298A>T (p.Arg100Trp)
c.409A>T (p.Arg137Trp)
c.52A>T (p.Arg18Trp)
n.1031A>T
12g.6869158G>ACA383710052TPI1c.299G>A (p.Arg100Lys)
c.410G>A (p.Arg137Lys)
c.53G>A (p.Arg18Lys)
n.1032G>A
12g.6869158G>CCA383710054TPI1c.299G>C (p.Arg100Thr)
c.410G>C (p.Arg137Thr)
c.53G>C (p.Arg18Thr)
n.1032G>C
12g.6869158G>TCA383710057TPI1c.299G>T (p.Arg100Met)
c.410G>T (p.Arg137Met)
c.53G>T (p.Arg18Met)
n.1032G>T
12g.6869159G>ACA478164708TPI1c.300G>A (p.Arg100=)
c.411G>A (p.Arg137=)
c.54G>A (p.Arg18=)
n.1033G>A
12g.6869159G>CCA383710060TPI1c.300G>C (p.Arg100Ser)
c.411G>C (p.Arg137Ser)
c.54G>C (p.Arg18Ser)
n.1033G>C
12g.6869159G=CA2014289075TPI1c.300G= (p.Arg100=)
c.411G= (p.Arg137=)
c.54G= (p.Arg18=)
n.1033G=
12g.6869159G>TCA6418896TPI1c.300G>T (p.Arg100Ser)
c.411G>T (p.Arg137Ser)
c.54G>T (p.Arg18Ser)
n.1033G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.6869160C>ACA383710063TPI1c.301C>A (p.His101Asn)
c.412C>A (p.His138Asn)
c.55C>A (p.His19Asn)
n.1034C>A
12g.6869160C=CA2014289076TPI1c.301C= (p.His101=)
c.412C= (p.His138=)
c.55C= (p.His19=)
n.1034C=
12g.6869160C>GCA383710065TPI1c.301C>G (p.His101Asp)
c.412C>G (p.His138Asp)
c.55C>G (p.His19Asp)
n.1034C>G
12g.6869160C>TCA383710066TPI1c.301C>T (p.His101Tyr)
c.412C>T (p.His138Tyr)
c.55C>T (p.His19Tyr)
n.1034C>T
 dbSNP
12g.6869161A>CCA383710067TPI1c.302A>C (p.His101Pro)
c.413A>C (p.His138Pro)
c.56A>C (p.His19Pro)
n.1035A>C
12g.6869161A>GCA383710069TPI1c.302A>G (p.His101Arg)
c.413A>G (p.His138Arg)
c.56A>G (p.His19Arg)
n.1035A>G
 gnomAD v4
12g.6869161A>TCA383710071TPI1c.302A>T (p.His101Leu)
c.413A>T (p.His138Leu)
c.56A>T (p.His19Leu)
n.1035A>T
12g.6869162T>ACA383710073TPI1c.303T>A (p.His101Gln)
c.414T>A (p.His138Gln)
c.57T>A (p.His19Gln)
n.1036T>A
12g.6869162T>CCA478164709TPI1c.303T>C (p.His101=)
c.414T>C (p.His138=)
c.57T>C (p.His19=)
n.1036T>C
 gnomAD v4
12g.6869162T>GCA383710077TPI1c.303T>G (p.His101Gln)
c.414T>G (p.His138Gln)
c.57T>G (p.His19Gln)
n.1036T>G
12g.6869163G>ACA383710104TPI1c.304G>A (p.Val102Ile)
c.415G>A (p.Val139Ile)
c.58G>A (p.Val20Ile)
n.1037G>A
12g.6869163G>CCA383710106TPI1c.304G>C (p.Val102Leu)
c.415G>C (p.Val139Leu)
c.58G>C (p.Val20Leu)
n.1037G>C
12g.6869163G>TCA383710105TPI1c.304G>T (p.Val102Phe)
c.415G>T (p.Val139Phe)
c.58G>T (p.Val20Phe)
n.1037G>T
12g.6869164T>ACA383710108TPI1c.305T>A (p.Val102Asp)
c.416T>A (p.Val139Asp)
c.59T>A (p.Val20Asp)
n.1038T>A
12g.6869164T>CCA383710113TPI1c.305T>C (p.Val102Ala)
c.416T>C (p.Val139Ala)
c.59T>C (p.Val20Ala)
n.1038T>C
12g.6869164T>GCA383710109TPI1c.305T>G (p.Val102Gly)
c.416T>G (p.Val139Gly)
c.59T>G (p.Val20Gly)
n.1038T>G
12g.6869165C>ACA478164711TPI1c.306C>A (p.Val102=)
c.417C>A (p.Val139=)
c.60C>A (p.Val20=)
n.1039C>A
12g.6869165C=CA2014289077TPI1c.306C= (p.Val102=)
c.417C= (p.Val139=)
c.60C= (p.Val20=)
n.1039C=
12g.6869165C>GCA478164712TPI1c.306C>G (p.Val102=)
c.417C>G (p.Val139=)
c.60C>G (p.Val20=)
n.1039C>G
12g.6869165C>TCA478164713TPI1c.306C>T (p.Val102=)
c.417C>T (p.Val139=)
c.60C>T (p.Val20=)
n.1039C>T
 dbSNP gnomAD v3 gnomAD v4
12g.6869166T>ACA383710117TPI1c.307T>A (p.Phe103Ile)
c.418T>A (p.Phe140Ile)
c.61T>A (p.Phe21Ile)
n.1040T>A
12g.6869166T>CCA383710127TPI1c.307T>C (p.Phe103Leu)
c.418T>C (p.Phe140Leu)
c.61T>C (p.Phe21Leu)
n.1040T>C
12g.6869166T>GCA383710124TPI1c.307T>G (p.Phe103Val)
c.418T>G (p.Phe140Val)
c.61T>G (p.Phe21Val)
n.1040T>G
12g.6869167T>ACA383710131TPI1c.308T>A (p.Phe103Tyr)
c.419T>A (p.Phe140Tyr)
c.62T>A (p.Phe21Tyr)
n.1041T>A
12g.6869167T>CCA383710136TPI1c.308T>C (p.Phe103Ser)
c.419T>C (p.Phe140Ser)
c.62T>C (p.Phe21Ser)
n.1041T>C
12g.6869167T>GCA383710140TPI1c.308T>G (p.Phe103Cys)
c.419T>G (p.Phe140Cys)
c.62T>G (p.Phe21Cys)
n.1041T>G
12g.6869168T>ACA383710149TPI1c.309T>A (p.Phe103Leu)
c.420T>A (p.Phe140Leu)
c.63T>A (p.Phe21Leu)
n.1042T>A
12g.6869168T>CCA478164715TPI1c.309T>C (p.Phe103=)
c.420T>C (p.Phe140=)
c.63T>C (p.Phe21=)
n.1042T>C
 ClinVar dbSNP gnomAD v4
12g.6869168T>GCA383710150TPI1c.309T>G (p.Phe103Leu)
c.420T>G (p.Phe140Leu)
c.63T>G (p.Phe21Leu)
n.1042T>G
 dbSNP
12g.6869168T=CA2014289078TPI1c.309T= (p.Phe103=)
c.420T= (p.Phe140=)
c.63T= (p.Phe21=)
n.1042T=
12g.6869169G>ACA383710165TPI1c.310G>A (p.Gly104Arg)
c.421G>A (p.Gly141Arg)
c.64G>A (p.Gly22Arg)
n.1043G>A
 dbSNP
12g.6869169G>CCA383710161TPI1c.310G>C (p.Gly104Arg)
c.421G>C (p.Gly141Arg)
c.64G>C (p.Gly22Arg)
n.1043G>C
12g.6869169G=CA2014289079TPI1c.310G= (p.Gly104=)
c.421G= (p.Gly141=)
c.64G= (p.Gly22=)
n.1043G=
12g.6869169G>TCA383710159TPI1c.310G>T (p.Gly104Trp)
c.421G>T (p.Gly141Trp)
c.64G>T (p.Gly22Trp)
n.1043G>T
12g.6869170G>ACA383710168TPI1c.311G>A (p.Gly104Glu)
c.422G>A (p.Gly141Glu)
c.65G>A (p.Gly22Glu)
n.1044G>A
 gnomAD v4
12g.6869170G>CCA383710173TPI1c.311G>C (p.Gly104Ala)
c.422G>C (p.Gly141Ala)
c.65G>C (p.Gly22Ala)
n.1044G>C
12g.6869170G>TCA383710175TPI1c.311G>T (p.Gly104Val)
c.422G>T (p.Gly141Val)
c.65G>T (p.Gly22Val)
n.1044G>T
 COSMIC COSMIC
12g.6869171G>ACA478164716TPI1c.312G>A (p.Gly104=)
c.423G>A (p.Gly141=)
c.66G>A (p.Gly22=)
n.1045G>A
12g.6869171G>CCA478164717TPI1c.312G>C (p.Gly104=)
c.423G>C (p.Gly141=)
c.66G>C (p.Gly22=)
n.1045G>C
12g.6869171G>TCA478164718TPI1c.312G>T (p.Gly104=)
c.423G>T (p.Gly141=)
c.66G>T (p.Gly22=)
n.1045G>T
12g.6869172G>ACA383710180TPI1c.313G>A (p.Glu105Lys)
c.424G>A (p.Glu142Lys)
c.67G>A (p.Glu23Lys)
n.1046G>A
 COSMIC COSMIC
12g.6869172G>CCA383710187TPI1c.313G>C (p.Glu105Gln)
c.424G>C (p.Glu142Gln)
c.67G>C (p.Glu23Gln)
n.1046G>C
12g.6869172G>TCA383710190TPI1c.313G>T (p.Glu105Ter)
c.424G>T (p.Glu142Ter)
c.67G>T (p.Glu23Ter)
n.1046G>T
12g.6869173A>CCA383710193TPI1c.314A>C (p.Glu105Ala)
c.425A>C (p.Glu142Ala)
c.68A>C (p.Glu23Ala)
n.1047A>C
12g.6869173A>GCA383710196TPI1c.314A>G (p.Glu105Gly)
c.425A>G (p.Glu142Gly)
c.68A>G (p.Glu23Gly)
n.1047A>G
12g.6869173A>TCA383710194TPI1c.314A>T (p.Glu105Val)
c.425A>T (p.Glu142Val)
c.68A>T (p.Glu23Val)
n.1047A>T
12g.6869174G>ACA478164721TPI1c.315G>A (p.Glu105=)
c.426G>A (p.Glu142=)
c.69G>A (p.Glu23=)
n.1048G>A
12g.6869174G>CCA122423TPI1c.315G>C (p.Glu105Asp)
c.426G>C (p.Glu142Asp)
c.69G>C (p.Glu23Asp)
n.1048G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.6869174G=CA2014289080TPI1c.315G= (p.Glu105=)
c.426G= (p.Glu142=)
c.69G= (p.Glu23=)
n.1048G=
12g.6869174G>TCA383710199TPI1c.315G>T (p.Glu105Asp)
c.426G>T (p.Glu142Asp)
c.69G>T (p.Glu23Asp)
n.1048G>T

Number of alleles fetched