Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.6868880C>ACA478164562TPI1c.132C>A (p.Pro44=)
c.243C>A (p.Pro81=)
c.-115C>A (n.-115C>A)
n.865C>A
 gnomAD v4
12g.6868880C=CA2014288937TPI1c.132C= (p.Pro44=)
c.243C= (p.Pro81=)
c.-115C= (n.-115C=)
n.865C=
12g.6868880C>GCA478164563TPI1c.132C>G (p.Pro44=)
c.243C>G (p.Pro81=)
c.-115C>G (n.-115C>G)
n.865C>G
 dbSNP gnomAD v3 gnomAD v4
12g.6868880C>TCA478164565TPI1c.132C>T (p.Pro44=)
c.243C>T (p.Pro81=)
c.-115C>T (n.-115C>T)
n.865C>T
 dbSNP gnomAD v2 gnomAD v4
12g.6868880_6868886delCA2617352503TPI1c.132_138del (p.Thr46IlefsTer9)
c.243_249del (p.Thr83IlefsTer9)
c.-115_-109del (n.-115_-109del)
n.865_871del
 gnomAD v4
12g.6868881C>ACA383709475TPI1c.133C>A (p.Pro45Thr)
c.244C>A (p.Pro82Thr)
c.-114C>A (n.-114C>A)
n.866C>A
12g.6868881C=CA2014288938TPI1c.133C= (p.Pro45=)
c.244C= (p.Pro82=)
c.-114C= (n.-114C=)
n.866C=
12g.6868881C>GCA383709477TPI1c.133C>G (p.Pro45Ala)
c.244C>G (p.Pro82Ala)
c.-114C>G (n.-114C>G)
n.866C>G
 dbSNP gnomAD v3 gnomAD v4
12g.6868881C>TCA383709476TPI1c.133C>T (p.Pro45Ser)
c.244C>T (p.Pro82Ser)
c.-114C>T (n.-114C>T)
n.866C>T
 gnomAD v4
12g.6868882C>ACA383709478TPI1c.134C>A (p.Pro45His)
c.245C>A (p.Pro82His)
c.-113C>A (n.-113C>A)
n.867C>A
12g.6868882C=CA2014288939TPI1c.134C= (p.Pro45=)
c.245C= (p.Pro82=)
c.-113C= (n.-113C=)
n.867C=
12g.6868882C>GCA383709479TPI1c.134C>G (p.Pro45Arg)
c.245C>G (p.Pro82Arg)
c.-113C>G (n.-113C>G)
n.867C>G
12g.6868882C>TCA232421122TPI1c.134C>T (p.Pro45Leu)
c.245C>T (p.Pro82Leu)
c.-113C>T (n.-113C>T)
n.867C>T
 dbSNP gnomAD v4
12g.6868883T>ACA478164571TPI1c.135T>A (p.Pro45=)
c.246T>A (p.Pro82=)
c.-112T>A (n.-112T>A)
n.868T>A
12g.6868883T>CCA478164572TPI1c.135T>C (p.Pro45=)
c.246T>C (p.Pro82=)
c.-112T>C (n.-112T>C)
n.868T>C
12g.6868883T>GCA478164574TPI1c.135T>G (p.Pro45=)
c.246T>G (p.Pro82=)
c.-112T>G (n.-112T>G)
n.868T>G
12g.6868884A=CA2014288940TPI1c.136A= (p.Thr46=)
c.247A= (p.Thr83=)
c.-111A= (n.-111A=)
n.869A=
12g.6868884A>CCA383709480TPI1c.136A>C (p.Thr46Pro)
c.247A>C (p.Thr83Pro)
c.-111A>C (n.-111A>C)
n.869A>C
12g.6868884A>GCA383709481TPI1c.136A>G (p.Thr46Ala)
c.247A>G (p.Thr83Ala)
c.-111A>G (n.-111A>G)
n.869A>G
 dbSNP gnomAD v4
12g.6868884A>TCA383709482TPI1c.136A>T (p.Thr46Ser)
c.247A>T (p.Thr83Ser)
c.-111A>T (n.-111A>T)
n.869A>T
12g.6868885C>ACA383709483TPI1c.137C>A (p.Thr46Asn)
c.248C>A (p.Thr83Asn)
c.-110C>A (n.-110C>A)
n.870C>A
12g.6868885C>GCA383709484TPI1c.137C>G (p.Thr46Ser)
c.248C>G (p.Thr83Ser)
c.-110C>G (n.-110C>G)
n.870C>G
12g.6868885C>TCA383709485TPI1c.137C>T (p.Thr46Ile)
c.248C>T (p.Thr83Ile)
c.-110C>T (n.-110C>T)
n.870C>T
12g.6868886T>ACA478164580TPI1c.138T>A (p.Thr46=)
c.249T>A (p.Thr83=)
c.-109T>A (n.-109T>A)
n.871T>A
12g.6868886T>CCA478164581TPI1c.138T>C (p.Thr46=)
c.249T>C (p.Thr83=)
c.-109T>C (n.-109T>C)
n.871T>C
12g.6868886T>GCA6418860TPI1c.138T>G (p.Thr46=)
c.249T>G (p.Thr83=)
c.-109T>G (n.-109T>G)
n.871T>G
 dbSNP ExAC gnomAD v2
12g.6868886T=CA2014288941TPI1c.138T= (p.Thr46=)
c.249T= (p.Thr83=)
c.-109T= (n.-109T=)
n.871T=
12g.6868887G>ACA383709488TPI1c.139G>A (p.Ala47Thr)
c.250G>A (p.Ala84Thr)
c.-108G>A (n.-108G>A)
n.872G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6868887G>CCA383709487TPI1c.139G>C (p.Ala47Pro)
c.250G>C (p.Ala84Pro)
c.-108G>C (n.-108G>C)
n.872G>C
12g.6868887G=CA2014288942TPI1c.139G= (p.Ala47=)
c.250G= (p.Ala84=)
c.-108G= (n.-108G=)
n.872G=
12g.6868887G>TCA383709486TPI1c.139G>T (p.Ala47Ser)
c.250G>T (p.Ala84Ser)
c.-108G>T (n.-108G>T)
n.872G>T
12g.6868888C>ACA383709489TPI1c.140C>A (p.Ala47Asp)
c.251C>A (p.Ala84Asp)
c.-107C>A (n.-107C>A)
n.873C>A
12g.6868888C=CA2014288943TPI1c.140C= (p.Ala47=)
c.251C= (p.Ala84=)
c.-107C= (n.-107C=)
n.873C=
12g.6868888C>GCA383709490TPI1c.140C>G (p.Ala47Gly)
c.251C>G (p.Ala84Gly)
c.-107C>G (n.-107C>G)
n.873C>G
12g.6868888C>TCA6418861TPI1c.140C>T (p.Ala47Val)
c.251C>T (p.Ala84Val)
c.-107C>T (n.-107C>T)
n.873C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.6868889C>ACA478164588TPI1c.141C>A (p.Ala47=)
c.252C>A (p.Ala84=)
c.-106C>A (n.-106C>A)
n.874C>A
12g.6868889C=CA2014288944TPI1c.141C= (p.Ala47=)
c.252C= (p.Ala84=)
c.-106C= (n.-106C=)
n.874C=
12g.6868889C>GCA478164589TPI1c.141C>G (p.Ala47=)
c.252C>G (p.Ala84=)
c.-106C>G (n.-106C>G)
n.874C>G
 dbSNP
12g.6868889C>TCA478164590TPI1c.141C>T (p.Ala47=)
c.252C>T (p.Ala84=)
c.-106C>T (n.-106C>T)
n.874C>T
 dbSNP gnomAD v3 gnomAD v4
12g.6868890T>ACA383709491TPI1c.142T>A (p.Tyr48Asn)
c.253T>A (p.Tyr85Asn)
c.-105T>A (n.-105T>A)
n.875T>A
12g.6868890T>CCA383709492TPI1c.142T>C (p.Tyr48His)
c.253T>C (p.Tyr85His)
c.-105T>C (n.-105T>C)
n.875T>C
 gnomAD v4
12g.6868890T>GCA383709493TPI1c.142T>G (p.Tyr48Asp)
c.253T>G (p.Tyr85Asp)
c.-105T>G (n.-105T>G)
n.875T>G
12g.6868891A>CCA383709496TPI1c.143A>C (p.Tyr48Ser)
c.254A>C (p.Tyr85Ser)
c.-104A>C (n.-104A>C)
n.876A>C
12g.6868891A>GCA383709494TPI1c.143A>G (p.Tyr48Cys)
c.254A>G (p.Tyr85Cys)
c.-104A>G (n.-104A>G)
n.876A>G
 gnomAD v4
12g.6868891A>TCA383709495TPI1c.143A>T (p.Tyr48Phe)
c.254A>T (p.Tyr85Phe)
c.-104A>T (n.-104A>T)
n.876A>T
 gnomAD v4
12g.6868892_6868897delCA2617352513TPI1c.144_149del (p.Ile49_Asp50del)
c.255_260del (p.Ile86_Asp87del)
c.-103_-98del (n.-103_-98del)
n.877_882del
 gnomAD v4
12g.6868892T>ACA383709497TPI1c.144T>A (p.Tyr48Ter)
c.255T>A (p.Tyr85Ter)
c.-103T>A (n.-103T>A)
n.877T>A
12g.6868892T>CCA478164596TPI1c.144T>C (p.Tyr48=)
c.255T>C (p.Tyr85=)
c.-103T>C (n.-103T>C)
n.877T>C
12g.6868892T>GCA383709498TPI1c.144T>G (p.Tyr48Ter)
c.255T>G (p.Tyr85Ter)
c.-103T>G (n.-103T>G)
n.877T>G
12g.6868893A=CA2014288945TPI1c.145A= (p.Ile49=)
c.256A= (p.Ile86=)
c.-102A= (n.-102A=)
n.878A=
12g.6868893A>CCA383709499TPI1c.145A>C (p.Ile49Leu)
c.256A>C (p.Ile86Leu)
c.-102A>C (n.-102A>C)
n.878A>C
12g.6868893A>GCA383709500TPI1c.145A>G (p.Ile49Val)
c.256A>G (p.Ile86Val)
c.-102A>G (n.-102A>G)
n.878A>G
 gnomAD v4 COSMIC COSMIC
12g.6868893A>TCA232421127TPI1c.145A>T (p.Ile49Phe)
c.256A>T (p.Ile86Phe)
c.-102A>T (n.-102A>T)
n.878A>T
 dbSNP
12g.6868894T>ACA383709501TPI1c.146T>A (p.Ile49Asn)
c.257T>A (p.Ile86Asn)
c.-101T>A (n.-101T>A)
n.879T>A
12g.6868894T>CCA383709503TPI1c.146T>C (p.Ile49Thr)
c.257T>C (p.Ile86Thr)
c.-101T>C (n.-101T>C)
n.879T>C
12g.6868894T>GCA383709502TPI1c.146T>G (p.Ile49Ser)
c.257T>G (p.Ile86Ser)
c.-101T>G (n.-101T>G)
n.879T>G
12g.6868895C>ACA478164598TPI1c.147C>A (p.Ile49=)
c.258C>A (p.Ile86=)
c.-100C>A (n.-100C>A)
n.880C>A
12g.6868895C=CA2014288946TPI1c.147C= (p.Ile49=)
c.258C= (p.Ile86=)
c.-100C= (n.-100C=)
n.880C=
12g.6868895C>GCA383709504TPI1c.147C>G (p.Ile49Met)
c.258C>G (p.Ile86Met)
c.-100C>G (n.-100C>G)
n.880C>G
 dbSNP
12g.6868895C>TCA478164599TPI1c.147C>T (p.Ile49=)
c.258C>T (p.Ile86=)
c.-100C>T (n.-100C>T)
n.880C>T
12g.6868896G>ACA383709505TPI1c.148G>A (p.Asp50Asn)
c.259G>A (p.Asp87Asn)
c.-99G>A (n.-99G>A)
n.881G>A
12g.6868896G>CCA383709506TPI1c.148G>C (p.Asp50His)
c.259G>C (p.Asp87His)
c.-99G>C (n.-99G>C)
n.881G>C
12g.6868896G>TCA383709507TPI1c.148G>T (p.Asp50Tyr)
c.259G>T (p.Asp87Tyr)
c.-99G>T (n.-99G>T)
n.881G>T
12g.6868897A=CA2014288947TPI1c.149A= (p.Asp50=)
c.260A= (p.Asp87=)
c.-98A= (n.-98A=)
n.882A=
12g.6868897A>CCA383709508TPI1c.149A>C (p.Asp50Ala)
c.260A>C (p.Asp87Ala)
c.-98A>C (n.-98A>C)
n.882A>C
12g.6868897A>GCA383709509TPI1c.149A>G (p.Asp50Gly)
c.260A>G (p.Asp87Gly)
c.-98A>G (n.-98A>G)
n.882A>G
 dbSNP gnomAD v2
12g.6868897A>TCA383709510TPI1c.149A>T (p.Asp50Val)
c.260A>T (p.Asp87Val)
c.-98A>T (n.-98A>T)
n.882A>T
12g.6868898C>ACA383709511TPI1c.150C>A (p.Asp50Glu)
c.261C>A (p.Asp87Glu)
c.-97C>A (n.-97C>A)
n.883C>A
12g.6868898C>GCA383709512TPI1c.150C>G (p.Asp50Glu)
c.261C>G (p.Asp87Glu)
c.-97C>G (n.-97C>G)
n.883C>G
12g.6868898C>TCA478164600TPI1c.150C>T (p.Asp50=)
c.261C>T (p.Asp87=)
c.-97C>T (n.-97C>T)
n.883C>T
12g.6868899T>ACA383709513TPI1c.151T>A (p.Phe51Ile)
c.262T>A (p.Phe88Ile)
c.-96T>A (n.-96T>A)
n.884T>A
12g.6868899T>CCA383709514TPI1c.151T>C (p.Phe51Leu)
c.262T>C (p.Phe88Leu)
c.-96T>C (n.-96T>C)
n.884T>C
 gnomAD v4
12g.6868899T>GCA383709515TPI1c.151T>G (p.Phe51Val)
c.262T>G (p.Phe88Val)
c.-96T>G (n.-96T>G)
n.884T>G
12g.6868900T>ACA383709517TPI1c.152T>A (p.Phe51Tyr)
c.263T>A (p.Phe88Tyr)
c.-95T>A (n.-95T>A)
n.885T>A
12g.6868900T>CCA383709518TPI1c.152T>C (p.Phe51Ser)
c.263T>C (p.Phe88Ser)
c.-95T>C (n.-95T>C)
n.885T>C
12g.6868900T>GCA383709516TPI1c.152T>G (p.Phe51Cys)
c.263T>G (p.Phe88Cys)
c.-95T>G (n.-95T>G)
n.885T>G
12g.6868901C>ACA383709519TPI1c.153C>A (p.Phe51Leu)
c.264C>A (p.Phe88Leu)
c.-94C>A (n.-94C>A)
n.886C>A
12g.6868901C=CA2014288948TPI1c.153C= (p.Phe51=)
c.264C= (p.Phe88=)
c.-94C= (n.-94C=)
n.886C=
12g.6868901C>GCA383709520TPI1c.153C>G (p.Phe51Leu)
c.264C>G (p.Phe88Leu)
c.-94C>G (n.-94C>G)
n.886C>G
12g.6868901C>TCA6418862TPI1c.153C>T (p.Phe51=)
c.264C>T (p.Phe88=)
c.-94C>T (n.-94C>T)
n.886C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6868901_6868902delinsCGCA2014288949TPI1c.153_154delinsCG (p.Phe51=)
c.264_265delinsCG (p.Phe88=)
c.-94_-93delinsCG (n.-94_-93delinsCG)
n.886_887delinsCG
12g.6868902delCA2014288950TPI1c.154del (p.Ala52ProfsTer5)
c.265del (p.Ala89ProfsTer5)
c.-93del (n.-93del)
n.887del
 dbSNP
12g.6868902G>ACA6418863TPI1c.154G>A (p.Ala52Thr)
c.265G>A (p.Ala89Thr)
c.-93G>A (n.-93G>A)
n.887G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6868902G>CCA383709521TPI1c.154G>C (p.Ala52Pro)
c.265G>C (p.Ala89Pro)
c.-93G>C (n.-93G>C)
n.887G>C
 dbSNP gnomAD v2 gnomAD v4
12g.6868902G=CA2014288951TPI1c.154G= (p.Ala52=)
c.265G= (p.Ala89=)
c.-93G= (n.-93G=)
n.887G=
12g.6868902G>TCA383709522TPI1c.154G>T (p.Ala52Ser)
c.265G>T (p.Ala89Ser)
c.-93G>T (n.-93G>T)
n.887G>T
12g.6868903C>ACA383709523TPI1c.155C>A (p.Ala52Asp)
c.266C>A (p.Ala89Asp)
c.-92C>A (n.-92C>A)
n.888C>A
 gnomAD v4
12g.6868903C=CA2014288952TPI1c.155C= (p.Ala52=)
c.266C= (p.Ala89=)
c.-92C= (n.-92C=)
n.888C=
12g.6868903C>GCA383709524TPI1c.155C>G (p.Ala52Gly)
c.266C>G (p.Ala89Gly)
c.-92C>G (n.-92C>G)
n.888C>G
 gnomAD v4
12g.6868903C>TCA383709525TPI1c.155C>T (p.Ala52Val)
c.266C>T (p.Ala89Val)
c.-92C>T (n.-92C>T)
n.888C>T
 dbSNP gnomAD v2 gnomAD v4
12g.6868904C>ACA478164602TPI1c.156C>A (p.Ala52=)
c.267C>A (p.Ala89=)
c.-91C>A (n.-91C>A)
n.889C>A
12g.6868904C=CA2014288953TPI1c.156C= (p.Ala52=)
c.267C= (p.Ala89=)
c.-91C= (n.-91C=)
n.889C=
12g.6868904C>GCA478164603TPI1c.156C>G (p.Ala52=)
c.267C>G (p.Ala89=)
c.-91C>G (n.-91C>G)
n.889C>G
12g.6868904C>TCA6418864TPI1c.156C>T (p.Ala52=)
c.267C>T (p.Ala89=)
c.-91C>T (n.-91C>T)
n.889C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.6868905C>ACA478164604TPI1c.157C>A (p.Arg53=)
c.268C>A (p.Arg90=)
c.-90C>A (n.-90C>A)
n.890C>A
 dbSNP gnomAD v2 gnomAD v4
12g.6868905C=CA2014288954TPI1c.157C= (p.Arg53=)
c.268C= (p.Arg90=)
c.-90C= (n.-90C=)
n.890C=
12g.6868905C>GCA383709526TPI1c.157C>G (p.Arg53Gly)
c.268C>G (p.Arg90Gly)
c.-90C>G (n.-90C>G)
n.890C>G
12g.6868905C>TCA383709527TPI1c.157C>T (p.Arg53Trp)
c.268C>T (p.Arg90Trp)
c.-90C>T (n.-90C>T)
n.890C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6868906G>ACA6418865TPI1c.158G>A (p.Arg53Gln)
c.269G>A (p.Arg90Gln)
c.-89G>A (n.-89G>A)
n.891G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6868906G>CCA383709528TPI1c.158G>C (p.Arg53Pro)
c.269G>C (p.Arg90Pro)
c.-89G>C (n.-89G>C)
n.891G>C
12g.6868906G=CA2014288955TPI1c.158G= (p.Arg53=)
c.269G= (p.Arg90=)
c.-89G= (n.-89G=)
n.891G=
12g.6868906G>TCA383709529TPI1c.158G>T (p.Arg53Leu)
c.269G>T (p.Arg90Leu)
c.-89G>T (n.-89G>T)
n.891G>T
 gnomAD v4
12g.6868907G>ACA478164605TPI1c.159G>A (p.Arg53=)
c.270G>A (p.Arg90=)
c.-88G>A (n.-88G>A)
n.892G>A
12g.6868907G>CCA478164606TPI1c.159G>C (p.Arg53=)
c.270G>C (p.Arg90=)
c.-88G>C (n.-88G>C)
n.892G>C
12g.6868907G>TCA478164607TPI1c.159G>T (p.Arg53=)
c.270G>T (p.Arg90=)
c.-88G>T (n.-88G>T)
n.892G>T
12g.6868908C>ACA383709532TPI1c.160C>A (p.Gln54Lys)
c.271C>A (p.Gln91Lys)
c.-87C>A (n.-87C>A)
n.893C>A
12g.6868908C>GCA383709531TPI1c.160C>G (p.Gln54Glu)
c.271C>G (p.Gln91Glu)
c.-87C>G (n.-87C>G)
n.893C>G
12g.6868908C>TCA383709530TPI1c.160C>T (p.Gln54Ter)
c.271C>T (p.Gln91Ter)
c.-87C>T (n.-87C>T)
n.893C>T
 gnomAD v4
12g.6868909A=CA2014288956TPI1c.161A= (p.Gln54=)
c.272A= (p.Gln91=)
c.-86A= (n.-86A=)
n.894A=
12g.6868909A>CCA383709533TPI1c.161A>C (p.Gln54Pro)
c.272A>C (p.Gln91Pro)
c.-86A>C (n.-86A>C)
n.894A>C
12g.6868909A>GCA383709534TPI1c.161A>G (p.Gln54Arg)
c.272A>G (p.Gln91Arg)
c.-86A>G (n.-86A>G)
n.894A>G
 dbSNP gnomAD v4
12g.6868909A>TCA383709535TPI1c.161A>T (p.Gln54Leu)
c.272A>T (p.Gln91Leu)
c.-86A>T (n.-86A>T)
n.894A>T
12g.6868910G>ACA478164608TPI1c.162G>A (p.Gln54=)
c.273G>A (p.Gln91=)
c.-85G>A (n.-85G>A)
n.895G>A
 dbSNP gnomAD v3 gnomAD v4
12g.6868910G>CCA383709536TPI1c.162G>C (p.Gln54His)
c.273G>C (p.Gln91His)
c.-85G>C (n.-85G>C)
n.895G>C
12g.6868910G=CA2014288957TPI1c.162G= (p.Gln54=)
c.273G= (p.Gln91=)
c.-85G= (n.-85G=)
n.895G=
12g.6868910G>TCA383709537TPI1c.162G>T (p.Gln54His)
c.273G>T (p.Gln91His)
c.-85G>T (n.-85G>T)
n.895G>T
12g.6868911A=CA2014288958TPI1c.163A= (p.Lys55=)
c.274A= (p.Lys92=)
c.-84A= (n.-84A=)
n.896A=
12g.6868911A>CCA383709538TPI1c.163A>C (p.Lys55Gln)
c.274A>C (p.Lys92Gln)
c.-84A>C (n.-84A>C)
n.896A>C
 dbSNP gnomAD v2 gnomAD v4
12g.6868911A>GCA383709539TPI1c.163A>G (p.Lys55Glu)
c.274A>G (p.Lys92Glu)
c.-84A>G (n.-84A>G)
n.896A>G
12g.6868911A>TCA383709540TPI1c.163A>T (p.Lys55Ter)
c.274A>T (p.Lys92Ter)
c.-84A>T (n.-84A>T)
n.896A>T
12g.6868912A>CCA383709541TPI1c.164A>C (p.Lys55Thr)
c.275A>C (p.Lys92Thr)
c.-83A>C (n.-83A>C)
n.897A>C
12g.6868912A>GCA383709542TPI1c.164A>G (p.Lys55Arg)
c.275A>G (p.Lys92Arg)
c.-83A>G (n.-83A>G)
n.897A>G
12g.6868912A>TCA383709543TPI1c.164A>T (p.Lys55Met)
c.275A>T (p.Lys92Met)
c.-83A>T (n.-83A>T)
n.897A>T
12g.6868913G>ACA478164609TPI1c.165G>A (p.Lys55=)
c.276G>A (p.Lys92=)
c.-82G>A (n.-82G>A)
n.898G>A
12g.6868913G>CCA383709544TPI1c.165G>C (p.Lys55Asn)
c.276G>C (p.Lys92Asn)
c.-82G>C (n.-82G>C)
n.898G>C
12g.6868913G>TCA383709545TPI1c.165G>T (p.Lys55Asn)
c.276G>T (p.Lys92Asn)
c.-82G>T (n.-82G>T)
n.898G>T
12g.6868914C>ACA383709546TPI1c.166C>A (p.Leu56Ile)
c.277C>A (p.Leu93Ile)
c.-81C>A (n.-81C>A)
n.899C>A
12g.6868914C=CA2014288959TPI1c.166C= (p.Leu56=)
c.277C= (p.Leu93=)
c.-81C= (n.-81C=)
n.899C=
12g.6868914C>GCA383709547TPI1c.166C>G (p.Leu56Val)
c.277C>G (p.Leu93Val)
c.-81C>G (n.-81C>G)
n.899C>G
 dbSNP gnomAD v4
12g.6868914C>TCA478164610TPI1c.166C>T (p.Leu56=)
c.277C>T (p.Leu93=)
c.-81C>T (n.-81C>T)
n.899C>T
12g.6868915T>ACA383709548TPI1c.167T>A (p.Leu56Gln)
c.278T>A (p.Leu93Gln)
c.-80T>A (n.-80T>A)
n.900T>A
12g.6868915T>CCA383709550TPI1c.167T>C (p.Leu56Pro)
c.278T>C (p.Leu93Pro)
c.-80T>C (n.-80T>C)
n.900T>C
12g.6868915T>GCA383709549TPI1c.167T>G (p.Leu56Arg)
c.278T>G (p.Leu93Arg)
c.-80T>G (n.-80T>G)
n.900T>G
12g.6868916A>CCA478164613TPI1c.168A>C (p.Leu56=)
c.279A>C (p.Leu93=)
c.-79A>C (n.-79A>C)
n.901A>C
12g.6868916A>GCA478164612TPI1c.168A>G (p.Leu56=)
c.279A>G (p.Leu93=)
c.-79A>G (n.-79A>G)
n.901A>G
12g.6868916A>TCA478164611TPI1c.168A>T (p.Leu56=)
c.279A>T (p.Leu93=)
c.-79A>T (n.-79A>T)
n.901A>T
12g.6868917G>ACA383709551TPI1c.169G>A (p.Asp57Asn)
c.280G>A (p.Asp94Asn)
c.-78G>A (n.-78G>A)
n.902G>A
12g.6868917G>CCA383709552TPI1c.169G>C (p.Asp57His)
c.280G>C (p.Asp94His)
c.-78G>C (n.-78G>C)
n.902G>C
12g.6868917G>TCA383709553TPI1c.169G>T (p.Asp57Tyr)
c.280G>T (p.Asp94Tyr)
c.-78G>T (n.-78G>T)
n.902G>T
12g.6868918A>CCA383709554TPI1c.170A>C (p.Asp57Ala)
c.281A>C (p.Asp94Ala)
c.-77A>C (n.-77A>C)
n.903A>C
12g.6868918A>GCA383709555TPI1c.170A>G (p.Asp57Gly)
c.281A>G (p.Asp94Gly)
c.-77A>G (n.-77A>G)
n.903A>G
12g.6868918A>TCA383709556TPI1c.170A>T (p.Asp57Val)
c.281A>T (p.Asp94Val)
c.-77A>T (n.-77A>T)
n.903A>T
12g.6868919T>ACA383709557TPI1c.171T>A (p.Asp57Glu)
c.282T>A (p.Asp94Glu)
c.-76T>A (n.-76T>A)
n.904T>A
12g.6868919T>CCA478164616TPI1c.171T>C (p.Asp57=)
c.282T>C (p.Asp94=)
c.-76T>C (n.-76T>C)
n.904T>C
 COSMIC COSMIC
12g.6868919T>GCA383709558TPI1c.171T>G (p.Asp57Glu)
c.282T>G (p.Asp94Glu)
c.-76T>G (n.-76T>G)
n.904T>G
12g.6868920C>ACA383709559TPI1c.172C>A (p.Pro58Thr)
c.283C>A (p.Pro95Thr)
c.-75C>A (n.-75C>A)
n.905C>A
12g.6868920C>GCA383709560TPI1c.172C>G (p.Pro58Ala)
c.283C>G (p.Pro95Ala)
c.-75C>G (n.-75C>G)
n.905C>G
12g.6868920C>TCA383709561TPI1c.172C>T (p.Pro58Ser)
c.283C>T (p.Pro95Ser)
c.-75C>T (n.-75C>T)
n.905C>T
12g.6868921C>ACA383709564TPI1c.173C>A (p.Pro58His)
c.284C>A (p.Pro95His)
c.-74C>A (n.-74C>A)
n.906C>A
 dbSNP gnomAD v2 gnomAD v4
12g.6868921C=CA2014288960TPI1c.173C= (p.Pro58=)
c.284C= (p.Pro95=)
c.-74C= (n.-74C=)
n.906C=
12g.6868921C>GCA383709563TPI1c.173C>G (p.Pro58Arg)
c.284C>G (p.Pro95Arg)
c.-74C>G (n.-74C>G)
n.906C>G
12g.6868921C>TCA383709562TPI1c.173C>T (p.Pro58Leu)
c.284C>T (p.Pro95Leu)
c.-74C>T (n.-74C>T)
n.906C>T
12g.6868922C>ACA478164618TPI1c.174C>A (p.Pro58=)
c.285C>A (p.Pro95=)
c.-73C>A (n.-73C>A)
n.907C>A
12g.6868922C=CA2014288961TPI1c.174C= (p.Pro58=)
c.285C= (p.Pro95=)
c.-73C= (n.-73C=)
n.907C=
12g.6868922C>GCA6418866TPI1c.174C>G (p.Pro58=)
c.285C>G (p.Pro95=)
c.-73C>G (n.-73C>G)
n.907C>G
 dbSNP ExAC gnomAD v2
12g.6868922C>TCA478164619TPI1c.174C>T (p.Pro58=)
c.285C>T (p.Pro95=)
c.-73C>T (n.-73C>T)
n.907C>T
12g.6868923A>CCA383709565TPI1c.175A>C (p.Lys59Gln)
c.286A>C (p.Lys96Gln)
c.-72A>C (n.-72A>C)
n.908A>C
12g.6868923A>GCA383709566TPI1c.175A>G (p.Lys59Glu)
c.286A>G (p.Lys96Glu)
c.-72A>G (n.-72A>G)
n.908A>G
12g.6868923A>TCA383709567TPI1c.175A>T (p.Lys59Ter)
c.286A>T (p.Lys96Ter)
c.-72A>T (n.-72A>T)
n.908A>T
12g.6868924A=CA2014288962TPI1c.176A= (p.Lys59=)
c.287A= (p.Lys96=)
c.-71A= (n.-71A=)
n.909A=
12g.6868924A>CCA383709568TPI1c.176A>C (p.Lys59Thr)
c.287A>C (p.Lys96Thr)
c.-71A>C (n.-71A>C)
n.909A>C
12g.6868924A>GCA6418867TPI1c.176A>G (p.Lys59Arg)
c.287A>G (p.Lys96Arg)
c.-71A>G (n.-71A>G)
n.909A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.6868924A>TCA383709569TPI1c.176A>T (p.Lys59Met)
c.287A>T (p.Lys96Met)
c.-71A>T (n.-71A>T)
n.909A>T
12g.6868925G>ACA478164621TPI1c.177G>A (p.Lys59=)
c.288G>A (p.Lys96=)
c.-70G>A (n.-70G>A)
n.910G>A
12g.6868925G>CCA383709570TPI1c.177G>C (p.Lys59Asn)
c.288G>C (p.Lys96Asn)
c.-70G>C (n.-70G>C)
n.910G>C
 dbSNP gnomAD v2 gnomAD v4
12g.6868925G=CA2014288963TPI1c.177G= (p.Lys59=)
c.288G= (p.Lys96=)
c.-70G= (n.-70G=)
n.910G=
12g.6868925G>TCA383709571TPI1c.177G>T (p.Lys59Asn)
c.288G>T (p.Lys96Asn)
c.-70G>T (n.-70G>T)
n.910G>T
12g.6868926A>CCA383709572TPI1c.178A>C (p.Ile60Leu)
c.289A>C (p.Ile97Leu)
c.-69A>C (n.-69A>C)
n.911A>C
12g.6868926A>GCA383709573TPI1c.178A>G (p.Ile60Val)
c.289A>G (p.Ile97Val)
c.-69A>G (n.-69A>G)
n.911A>G
12g.6868926A>TCA383709574TPI1c.178A>T (p.Ile60Phe)
c.289A>T (p.Ile97Phe)
c.-69A>T (n.-69A>T)
n.911A>T
12g.6868927T>ACA383709575TPI1c.179T>A (p.Ile60Asn)
c.290T>A (p.Ile97Asn)
c.-68T>A (n.-68T>A)
n.912T>A
12g.6868927T>CCA383709577TPI1c.179T>C (p.Ile60Thr)
c.290T>C (p.Ile97Thr)
c.-68T>C (n.-68T>C)
n.912T>C
12g.6868927T>GCA383709576TPI1c.179T>G (p.Ile60Ser)
c.290T>G (p.Ile97Ser)
c.-68T>G (n.-68T>G)
n.912T>G
12g.6868928T>ACA478164622TPI1c.180T>A (p.Ile60=)
c.291T>A (p.Ile97=)
c.-67T>A (n.-67T>A)
n.913T>A
12g.6868928T>CCA478164623TPI1c.180T>C (p.Ile60=)
c.291T>C (p.Ile97=)
c.-67T>C (n.-67T>C)
n.913T>C
12g.6868928T>GCA6418868TPI1c.180T>G (p.Ile60Met)
c.291T>G (p.Ile97Met)
c.-67T>G (n.-67T>G)
n.913T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.6868928T=CA2014288964TPI1c.180T= (p.Ile60=)
c.291T= (p.Ile97=)
c.-67T= (n.-67T=)
n.913T=
12g.6868929G>ACA383709578TPI1c.181G>A (p.Ala61Thr)
c.292G>A (p.Ala98Thr)
c.-66G>A (n.-66G>A)
n.914G>A
12g.6868929G>CCA383709579TPI1c.181G>C (p.Ala61Pro)
c.292G>C (p.Ala98Pro)
c.-66G>C (n.-66G>C)
n.914G>C
12g.6868929G>TCA383709580TPI1c.181G>T (p.Ala61Ser)
c.292G>T (p.Ala98Ser)
c.-66G>T (n.-66G>T)
n.914G>T
12g.6868930C>ACA383709581TPI1c.182C>A (p.Ala61Asp)
c.293C>A (p.Ala98Asp)
c.-65C>A (n.-65C>A)
n.915C>A
12g.6868930C>GCA383709582TPI1c.182C>G (p.Ala61Gly)
c.293C>G (p.Ala98Gly)
c.-65C>G (n.-65C>G)
n.915C>G
12g.6868930C>TCA383709583TPI1c.182C>T (p.Ala61Val)
c.293C>T (p.Ala98Val)
c.-65C>T (n.-65C>T)
n.915C>T
 ClinVar
12g.6868931T>ACA478164624TPI1c.183T>A (p.Ala61=)
c.294T>A (p.Ala98=)
c.-64T>A (n.-64T>A)
n.916T>A
12g.6868931T>CCA478164625TPI1c.183T>C (p.Ala61=)
c.294T>C (p.Ala98=)
c.-64T>C (n.-64T>C)
n.916T>C
12g.6868931T>GCA478164626TPI1c.183T>G (p.Ala61=)
c.294T>G (p.Ala98=)
c.-64T>G (n.-64T>G)
n.916T>G
12g.6868932G>ACA383709584TPI1c.184G>A (p.Val62Met)
c.295G>A (p.Val99Met)
c.-63G>A (n.-63G>A)
n.917G>A
 gnomAD v4
12g.6868932G>CCA383709585TPI1c.184G>C (p.Val62Leu)
c.295G>C (p.Val99Leu)
c.-63G>C (n.-63G>C)
n.917G>C
12g.6868932G>TCA383709586TPI1c.184G>T (p.Val62Leu)
c.295G>T (p.Val99Leu)
c.-63G>T (n.-63G>T)
n.917G>T
12g.6868933T>ACA383709587TPI1c.185T>A (p.Val62Glu)
c.296T>A (p.Val99Glu)
c.-62T>A (n.-62T>A)
n.918T>A
12g.6868933T>CCA383709588TPI1c.185T>C (p.Val62Ala)
c.296T>C (p.Val99Ala)
c.-62T>C (n.-62T>C)
n.918T>C
12g.6868933T>GCA383709589TPI1c.185T>G (p.Val62Gly)
c.296T>G (p.Val99Gly)
c.-62T>G (n.-62T>G)
n.918T>G
12g.6868934G>ACA478164627TPI1c.186G>A (p.Val62=)
c.297G>A (p.Val99=)
c.-61G>A (n.-61G>A)
n.919G>A
12g.6868934G>CCA478164628TPI1c.186G>C (p.Val62=)
c.297G>C (p.Val99=)
c.-61G>C (n.-61G>C)
n.919G>C
12g.6868934G>TCA478164629TPI1c.186G>T (p.Val62=)
c.297G>T (p.Val99=)
c.-61G>T (n.-61G>T)
n.919G>T
12g.6868935G>ACA383709592TPI1c.187G>A (p.Ala63Thr)
c.298G>A (p.Ala100Thr)
c.-60G>A (n.-60G>A)
n.920G>A
 dbSNP gnomAD v3 gnomAD v4
12g.6868935G>CCA383709591TPI1c.187G>C (p.Ala63Pro)
c.298G>C (p.Ala100Pro)
c.-60G>C (n.-60G>C)
n.920G>C
12g.6868935G=CA2014288965TPI1c.187G= (p.Ala63=)
c.298G= (p.Ala100=)
c.-60G= (n.-60G=)
n.920G=
12g.6868935G>TCA383709590TPI1c.187G>T (p.Ala63Ser)
c.298G>T (p.Ala100Ser)
c.-60G>T (n.-60G>T)
n.920G>T
12g.6868936C>ACA383709593TPI1c.188C>A (p.Ala63Asp)
c.299C>A (p.Ala100Asp)
c.-59C>A (n.-59C>A)
n.921C>A
12g.6868936C=CA2014288966TPI1c.188C= (p.Ala63=)
c.299C= (p.Ala100=)
c.-59C= (n.-59C=)
n.921C=
12g.6868936C>GCA383709594TPI1c.188C>G (p.Ala63Gly)
c.299C>G (p.Ala100Gly)
c.-59C>G (n.-59C>G)
n.921C>G
 dbSNP
12g.6868936C>TCA383709595TPI1c.188C>T (p.Ala63Val)
c.299C>T (p.Ala100Val)
c.-59C>T (n.-59C>T)
n.921C>T
12g.6868937T>ACA478164630TPI1c.189T>A (p.Ala63=)
c.300T>A (p.Ala100=)
c.-58T>A (n.-58T>A)
n.922T>A
 gnomAD v4
12g.6868937T>CCA478164631TPI1c.189T>C (p.Ala63=)
c.300T>C (p.Ala100=)
c.-58T>C (n.-58T>C)
n.922T>C
12g.6868937T>GCA478164632TPI1c.189T>G (p.Ala63=)
c.300T>G (p.Ala100=)
c.-58T>G (n.-58T>G)
n.922T>G
12g.6868938G>ACA383709596TPI1c.190G>A (p.Ala64Thr)
c.301G>A (p.Ala101Thr)
c.-57G>A (n.-57G>A)
n.923G>A
12g.6868938G>CCA383709597TPI1c.190G>C (p.Ala64Pro)
c.301G>C (p.Ala101Pro)
c.-57G>C (n.-57G>C)
n.923G>C
12g.6868938G=CA2014288967TPI1c.190G= (p.Ala64=)
c.301G= (p.Ala101=)
c.-57G= (n.-57G=)
n.923G=
12g.6868938G>TCA6418869TPI1c.190G>T (p.Ala64Ser)
c.301G>T (p.Ala101Ser)
c.-57G>T (n.-57G>T)
n.923G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.6868939C>ACA383709598TPI1c.191C>A (p.Ala64Glu)
c.302C>A (p.Ala101Glu)
c.-56C>A (n.-56C>A)
n.924C>A
12g.6868939C=CA2014288968TPI1c.191C= (p.Ala64=)
c.302C= (p.Ala101=)
c.-56C= (n.-56C=)
n.924C=
12g.6868939C>GCA383709599TPI1c.191C>G (p.Ala64Gly)
c.302C>G (p.Ala101Gly)
c.-56C>G (n.-56C>G)
n.924C>G
 dbSNP gnomAD v4
12g.6868939C>TCA383709600TPI1c.191C>T (p.Ala64Val)
c.302C>T (p.Ala101Val)
c.-56C>T (n.-56C>T)
n.924C>T
 dbSNP gnomAD v2 gnomAD v4
12g.6868940G>ACA6418870TPI1c.192G>A (p.Ala64=)
c.303G>A (p.Ala101=)
c.-55G>A (n.-55G>A)
n.925G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6868940G>CCA478164633TPI1c.192G>C (p.Ala64=)
c.303G>C (p.Ala101=)
c.-55G>C (n.-55G>C)
n.925G>C
12g.6868940G=CA2014288969TPI1c.192G= (p.Ala64=)
c.303G= (p.Ala101=)
c.-55G= (n.-55G=)
n.925G=
12g.6868940G>TCA478164634TPI1c.192G>T (p.Ala64=)
c.303G>T (p.Ala101=)
c.-55G>T (n.-55G>T)
n.925G>T
12g.6868941C>ACA383709601TPI1c.193C>A (p.Gln65Lys)
c.304C>A (p.Gln102Lys)
c.-54C>A (n.-54C>A)
n.926C>A
12g.6868941C>GCA383709602TPI1c.193C>G (p.Gln65Glu)
c.304C>G (p.Gln102Glu)
c.-54C>G (n.-54C>G)
n.926C>G
12g.6868941C>TCA383709603TPI1c.193C>T (p.Gln65Ter)
c.304C>T (p.Gln102Ter)
c.-54C>T (n.-54C>T)
n.926C>T
12g.6868942A=CA2014288970TPI1c.194A= (p.Gln65=)
c.305A= (p.Gln102=)
c.-53A= (n.-53A=)
n.927A=
12g.6868942A>CCA383709605TPI1c.194A>C (p.Gln65Pro)
c.305A>C (p.Gln102Pro)
c.-53A>C (n.-53A>C)
n.927A>C
12g.6868942A>GCA383709606TPI1c.194A>G (p.Gln65Arg)
c.305A>G (p.Gln102Arg)
c.-53A>G (n.-53A>G)
n.927A>G
 dbSNP gnomAD v4
12g.6868942A>TCA383709604TPI1c.194A>T (p.Gln65Leu)
c.305A>T (p.Gln102Leu)
c.-53A>T (n.-53A>T)
n.927A>T
12g.6868943G>ACA478164635TPI1c.195G>A (p.Gln65=)
c.306G>A (p.Gln102=)
c.-52G>A (n.-52G>A)
n.928G>A
12g.6868943G>CCA383709607TPI1c.195G>C (p.Gln65His)
c.306G>C (p.Gln102His)
c.-52G>C (n.-52G>C)
n.928G>C
12g.6868943G>TCA383709608TPI1c.195G>T (p.Gln65His)
c.306G>T (p.Gln102His)
c.-52G>T (n.-52G>T)
n.928G>T
12g.6868944A>CCA383709609TPI1c.196A>C (p.Asn66His)
c.307A>C (p.Asn103His)
c.-51A>C (n.-51A>C)
n.929A>C
12g.6868944A>GCA383709610TPI1c.196A>G (p.Asn66Asp)
c.307A>G (p.Asn103Asp)
c.-51A>G (n.-51A>G)
n.929A>G
12g.6868944A>TCA383709611TPI1c.196A>T (p.Asn66Tyr)
c.307A>T (p.Asn103Tyr)
c.-51A>T (n.-51A>T)
n.929A>T
12g.6868945A>CCA383709612TPI1c.197A>C (p.Asn66Thr)
c.308A>C (p.Asn103Thr)
c.-50A>C (n.-50A>C)
n.930A>C
12g.6868945A>GCA383709613TPI1c.197A>G (p.Asn66Ser)
c.308A>G (p.Asn103Ser)
c.-50A>G (n.-50A>G)
n.930A>G
12g.6868945A>TCA383709614TPI1c.197A>T (p.Asn66Ile)
c.308A>T (p.Asn103Ile)
c.-50A>T (n.-50A>T)
n.930A>T
12g.6868946C>ACA383709615TPI1c.198C>A (p.Asn66Lys)
c.309C>A (p.Asn103Lys)
c.-49C>A (n.-49C>A)
n.931C>A
12g.6868946C>GCA383709616TPI1c.198C>G (p.Asn66Lys)
c.309C>G (p.Asn103Lys)
c.-49C>G (n.-49C>G)
n.931C>G
 gnomAD v4
12g.6868946C>TCA478164636TPI1c.198C>T (p.Asn66=)
c.309C>T (p.Asn103=)
c.-49C>T (n.-49C>T)
n.931C>T
12g.6868947T>ACA383709617TPI1c.199T>A (p.Cys67Ser)
c.310T>A (p.Cys104Ser)
c.-48T>A (n.-48T>A)
n.932T>A
12g.6868947T>CCA383709618TPI1c.199T>C (p.Cys67Arg)
c.310T>C (p.Cys104Arg)
c.-48T>C (n.-48T>C)
n.932T>C
12g.6868947T>GCA383709619TPI1c.199T>G (p.Cys67Gly)
c.310T>G (p.Cys104Gly)
c.-48T>G (n.-48T>G)
n.932T>G
12g.6868948G>ACA383709620TPI1c.200G>A (p.Cys67Tyr)
c.311G>A (p.Cys104Tyr)
c.-47G>A (n.-47G>A)
n.933G>A
 gnomAD v4
12g.6868948G>CCA383709622TPI1c.200G>C (p.Cys67Ser)
c.311G>C (p.Cys104Ser)
c.-47G>C (n.-47G>C)
n.933G>C
12g.6868948G>TCA383709621TPI1c.200G>T (p.Cys67Phe)
c.311G>T (p.Cys104Phe)
c.-47G>T (n.-47G>T)
n.933G>T
12g.6868949C>ACA383709623TPI1c.201C>A (p.Cys67Ter)
c.312C>A (p.Cys104Ter)
c.-46C>A (n.-46C>A)
n.934C>A
12g.6868949C>GCA383709624TPI1c.201C>G (p.Cys67Trp)
c.312C>G (p.Cys104Trp)
c.-46C>G (n.-46C>G)
n.934C>G
12g.6868949C>TCA478164637TPI1c.201C>T (p.Cys67=)
c.312C>T (p.Cys104=)
c.-46C>T (n.-46C>T)
n.934C>T
 gnomAD v4
12g.6868950T>ACA383709625TPI1c.202T>A (p.Tyr68Asn)
c.313T>A (p.Tyr105Asn)
c.-45T>A (n.-45T>A)
n.935T>A
12g.6868950T>CCA383709626TPI1c.202T>C (p.Tyr68His)
c.313T>C (p.Tyr105His)
c.-45T>C (n.-45T>C)
n.935T>C
12g.6868950T>GCA383709627TPI1c.202T>G (p.Tyr68Asp)
c.313T>G (p.Tyr105Asp)
c.-45T>G (n.-45T>G)
n.935T>G
12g.6868951A=CA2014288971TPI1c.203A= (p.Tyr68=)
c.314A= (p.Tyr105=)
c.-44A= (n.-44A=)
n.936A=
12g.6868951A>CCA383709628TPI1c.203A>C (p.Tyr68Ser)
c.314A>C (p.Tyr105Ser)
c.-44A>C (n.-44A>C)
n.936A>C
12g.6868951A>GCA383709629TPI1c.203A>G (p.Tyr68Cys)
c.314A>G (p.Tyr105Cys)
c.-44A>G (n.-44A>G)
n.936A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6868951A>TCA383709630TPI1c.203A>T (p.Tyr68Phe)
c.314A>T (p.Tyr105Phe)
c.-44A>T (n.-44A>T)
n.936A>T
12g.6868952C>ACA383709631TPI1c.204C>A (p.Tyr68Ter)
c.315C>A (p.Tyr105Ter)
c.-43C>A (n.-43C>A)
n.937C>A
12g.6868952C=CA2014288973TPI1c.204C= (p.Tyr68=)
c.315C= (p.Tyr105=)
c.-43C= (n.-43C=)
n.937C=
12g.6868952C>GCA383709632TPI1c.204C>G (p.Tyr68Ter)
c.315C>G (p.Tyr105Ter)
c.-43C>G (n.-43C>G)
n.937C>G
12g.6868952C>TCA6418871TPI1c.204C>T (p.Tyr68=)
c.315C>T (p.Tyr105=)
c.-43C>T (n.-43C>T)
n.937C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6868952_6868953delinsCACA2014288972TPI1c.204_205delinsCA (p.Tyr68=)
c.315_316delinsCA (p.Tyr105=)
c.-43_-42delinsCA (n.-43_-42delinsCA)
n.937_938delinsCA
12g.6868953A=CA2014288974TPI1c.205A= (p.Lys69=)
c.316A= (p.Lys106=)
c.-42A= (n.-42A=)
n.938A=
12g.6868953A>CCA383709634TPI1c.205A>C (p.Lys69Gln)
c.316A>C (p.Lys106Gln)
c.-42A>C (n.-42A>C)
n.938A>C
 dbSNP gnomAD v3 gnomAD v4
12g.6868953A>GCA383709635TPI1c.205A>G (p.Lys69Glu)
c.316A>G (p.Lys106Glu)
c.-42A>G (n.-42A>G)
n.938A>G
 dbSNP gnomAD v3 gnomAD v4
12g.6868953A>TCA383709633TPI1c.205A>T (p.Lys69Ter)
c.316A>T (p.Lys106Ter)
c.-42A>T (n.-42A>T)
n.938A>T
12g.6868955delCA691292059TPI1c.207del (p.Val70Ter)
c.318del (p.Val107Ter)
c.-40del (n.-40del)
n.940del
 dbSNP gnomAD v3 gnomAD v4
12g.6868954_6868955delCA2617352554TPI1c.206_207del (p.Lys69SerfsTer3)
c.317_318del (p.Lys106SerfsTer3)
c.-41_-40del (n.-41_-40del)
n.939_940del
 gnomAD v4
12g.6868954A=CA2014288975TPI1c.206A= (p.Lys69=)
c.317A= (p.Lys106=)
c.-41A= (n.-41A=)
n.939A=
12g.6868954A>CCA383709636TPI1c.206A>C (p.Lys69Thr)
c.317A>C (p.Lys106Thr)
c.-41A>C (n.-41A>C)
n.939A>C
 gnomAD v4
12g.6868954A>GCA383709638TPI1c.206A>G (p.Lys69Arg)
c.317A>G (p.Lys106Arg)
c.-41A>G (n.-41A>G)
n.939A>G
 dbSNP
12g.6868954A>TCA383709637TPI1c.206A>T (p.Lys69Ile)
c.317A>T (p.Lys106Ile)
c.-41A>T (n.-41A>T)
n.939A>T
 gnomAD v4
12g.6868955A>CCA383709639TPI1c.207A>C (p.Lys69Asn)
c.318A>C (p.Lys106Asn)
c.-40A>C (n.-40A>C)
n.940A>C
12g.6868955A>GCA478164639TPI1c.207A>G (p.Lys69=)
c.318A>G (p.Lys106=)
c.-40A>G (n.-40A>G)
n.940A>G
 gnomAD v4
12g.6868955A>TCA383709640TPI1c.207A>T (p.Lys69Asn)
c.318A>T (p.Lys106Asn)
c.-40A>T (n.-40A>T)
n.940A>T
12g.6868956G>ACA6418872TPI1c.208G>A (p.Val70Met)
c.319G>A (p.Val107Met)
c.-39G>A (n.-39G>A)
n.941G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.6868956G>CCA383709642TPI1c.208G>C (p.Val70Leu)
c.319G>C (p.Val107Leu)
c.-39G>C (n.-39G>C)
n.941G>C
12g.6868956G=CA2014288976TPI1c.208G= (p.Val70=)
c.319G= (p.Val107=)
c.-39G= (n.-39G=)
n.941G=
12g.6868956G>TCA383709641TPI1c.208G>T (p.Val70Leu)
c.319G>T (p.Val107Leu)
c.-39G>T (n.-39G>T)
n.941G>T
 gnomAD v4
12g.6868957T>ACA383709643TPI1c.209T>A (p.Val70Glu)
c.320T>A (p.Val107Glu)
c.-38T>A (n.-38T>A)
n.942T>A
12g.6868957T>CCA383709644TPI1c.209T>C (p.Val70Ala)
c.320T>C (p.Val107Ala)
c.-38T>C (n.-38T>C)
n.942T>C
12g.6868957T>GCA383709645TPI1c.209T>G (p.Val70Gly)
c.320T>G (p.Val107Gly)
c.-38T>G (n.-38T>G)
n.942T>G
12g.6868958G>ACA478164640TPI1c.210G>A (p.Val70=)
c.321G>A (p.Val107=)
c.-37G>A (n.-37G>A)
n.943G>A
12g.6868958G>CCA478164641TPI1c.210G>C (p.Val70=)
c.321G>C (p.Val107=)
c.-37G>C (n.-37G>C)
n.943G>C
12g.6868958G>TCA478164642TPI1c.210G>T (p.Val70=)
c.321G>T (p.Val107=)
c.-37G>T (n.-37G>T)
n.943G>T
12g.6868959A>CCA383709646TPI1c.211A>C (p.Thr71Pro)
c.322A>C (p.Thr108Pro)
c.-36A>C (n.-36A>C)
n.944A>C
12g.6868959A>GCA383709647TPI1c.211A>G (p.Thr71Ala)
c.322A>G (p.Thr108Ala)
c.-36A>G (n.-36A>G)
n.944A>G
12g.6868959A>TCA383709648TPI1c.211A>T (p.Thr71Ser)
c.322A>T (p.Thr108Ser)
c.-36A>T (n.-36A>T)
n.944A>T
12g.6868960delCA2617352563TPI1c.212del (p.Thr71IlefsTer13)
c.323del (p.Thr108IlefsTer13)
c.-35del (n.-35del)
n.945del
 gnomAD v4
12g.6868960C>ACA383709649TPI1c.212C>A (p.Thr71Asn)
c.323C>A (p.Thr108Asn)
c.-35C>A (n.-35C>A)
n.945C>A
12g.6868960C=CA2014288977TPI1c.212C= (p.Thr71=)
c.323C= (p.Thr108=)
c.-35C= (n.-35C=)
n.945C=
12g.6868960C>GCA383709650TPI1c.212C>G (p.Thr71Ser)
c.323C>G (p.Thr108Ser)
c.-35C>G (n.-35C>G)
n.945C>G
12g.6868960C>TCA383709651TPI1c.212C>T (p.Thr71Ile)
c.323C>T (p.Thr108Ile)
c.-35C>T (n.-35C>T)
n.945C>T
 dbSNP gnomAD v2 gnomAD v4
12g.6868961T>ACA6418873TPI1c.213T>A (p.Thr71=)
c.324T>A (p.Thr108=)
c.-34T>A (n.-34T>A)
n.946T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.6868961T>CCA478164643TPI1c.213T>C (p.Thr71=)
c.324T>C (p.Thr108=)
c.-34T>C (n.-34T>C)
n.946T>C
 dbSNP
12g.6868961T>GCA478164644TPI1c.213T>G (p.Thr71=)
c.324T>G (p.Thr108=)
c.-34T>G (n.-34T>G)
n.946T>G
 gnomAD v4
12g.6868961T=CA2014288978TPI1c.213T= (p.Thr71=)
c.324T= (p.Thr108=)
c.-34T= (n.-34T=)
n.946T=
12g.6868962A>CCA383709652TPI1c.214A>C (p.Asn72His)
c.325A>C (p.Asn109His)
c.-33A>C (n.-33A>C)
n.947A>C
12g.6868962A>GCA383709653TPI1c.214A>G (p.Asn72Asp)
c.325A>G (p.Asn109Asp)
c.-33A>G (n.-33A>G)
n.947A>G
12g.6868962A>TCA383709654TPI1c.214A>T (p.Asn72Tyr)
c.325A>T (p.Asn109Tyr)
c.-33A>T (n.-33A>T)
n.947A>T
12g.6868963A=CA2014288979TPI1c.215A= (p.Asn72=)
c.326A= (p.Asn109=)
c.-32A= (n.-32A=)
n.948A=
12g.6868963A>CCA6418874TPI1c.215A>C (p.Asn72Thr)
c.326A>C (p.Asn109Thr)
c.-32A>C (n.-32A>C)
n.948A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.6868963A>GCA383709655TPI1c.215A>G (p.Asn72Ser)
c.326A>G (p.Asn109Ser)
c.-32A>G (n.-32A>G)
n.948A>G
12g.6868963A>TCA383709656TPI1c.215A>T (p.Asn72Ile)
c.326A>T (p.Asn109Ile)
c.-32A>T (n.-32A>T)
n.948A>T
 dbSNP
12g.6868964T>ACA232421223TPI1c.216T>A (p.Asn72Lys)
c.327T>A (p.Asn109Lys)
c.-31T>A (n.-31T>A)
n.949T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6868964T>CCA478164646TPI1c.216T>C (p.Asn72=)
c.327T>C (p.Asn109=)
c.-31T>C (n.-31T>C)
n.949T>C
12g.6868964T>GCA383709657TPI1c.216T>G (p.Asn72Lys)
c.327T>G (p.Asn109Lys)
c.-31T>G (n.-31T>G)
n.949T>G
 dbSNP
12g.6868964T=CA2014288980TPI1c.216T= (p.Asn72=)
c.327T= (p.Asn109=)
c.-31T= (n.-31T=)
n.949T=
12g.6868965G>ACA383709658TPI1c.217G>A (p.Gly73Arg)
c.328G>A (p.Gly110Arg)
c.-30G>A (n.-30G>A)
n.950G>A
12g.6868965G>CCA383709659TPI1c.217G>C (p.Gly73Arg)
c.328G>C (p.Gly110Arg)
c.-30G>C (n.-30G>C)
n.950G>C
12g.6868965G>TCA383709660TPI1c.217G>T (p.Gly73Trp)
c.328G>T (p.Gly110Trp)
c.-30G>T (n.-30G>T)
n.950G>T
12g.6868966G>ACA383709661TPI1c.218G>A (p.Gly73Glu)
c.329G>A (p.Gly110Glu)
c.-29G>A (n.-29G>A)
n.951G>A
12g.6868966G>CCA383709662TPI1c.218G>C (p.Gly73Ala)
c.329G>C (p.Gly110Ala)
c.-29G>C (n.-29G>C)
n.951G>C
 gnomAD v4
12g.6868966G>TCA383709663TPI1c.218G>T (p.Gly73Val)
c.329G>T (p.Gly110Val)
c.-29G>T (n.-29G>T)
n.951G>T
12g.6868967G>ACA478164647TPI1c.219G>A (p.Gly73=)
c.330G>A (p.Gly110=)
c.-28G>A (n.-28G>A)
n.952G>A
 dbSNP
12g.6868967G>CCA478164648TPI1c.219G>C (p.Gly73=)
c.330G>C (p.Gly110=)
c.-28G>C (n.-28G>C)
n.952G>C
12g.6868967G=CA2014288981TPI1c.219G= (p.Gly73=)
c.330G= (p.Gly110=)
c.-28G= (n.-28G=)
n.952G=
12g.6868967G>TCA478164649TPI1c.219G>T (p.Gly73=)
c.330G>T (p.Gly110=)
c.-28G>T (n.-28G>T)
n.952G>T
12g.6868968G>ACA383709664TPI1c.220G>A (p.Ala74Thr)
c.331G>A (p.Ala111Thr)
c.-27G>A (n.-27G>A)
n.953G>A
12g.6868968G>CCA383709665TPI1c.220G>C (p.Ala74Pro)
c.331G>C (p.Ala111Pro)
c.-27G>C (n.-27G>C)
n.953G>C
12g.6868968G>TCA383709666TPI1c.220G>T (p.Ala74Ser)
c.331G>T (p.Ala111Ser)
c.-27G>T (n.-27G>T)
n.953G>T
12g.6868969C>ACA383709669TPI1c.221C>A (p.Ala74Asp)
c.332C>A (p.Ala111Asp)
c.-26C>A (n.-26C>A)
n.954C>A
12g.6868969C=CA2014288982TPI1c.221C= (p.Ala74=)
c.332C= (p.Ala111=)
c.-26C= (n.-26C=)
n.954C=
12g.6868969C>GCA383709668TPI1c.221C>G (p.Ala74Gly)
c.332C>G (p.Ala111Gly)
c.-26C>G (n.-26C>G)
n.954C>G
12g.6868969C>TCA383709667TPI1c.221C>T (p.Ala74Val)
c.332C>T (p.Ala111Val)
c.-26C>T (n.-26C>T)
n.954C>T
 dbSNP
12g.6868970T>ACA478164652TPI1c.222T>A (p.Ala74=)
c.333T>A (p.Ala111=)
c.-25T>A (n.-25T>A)
n.955T>A
12g.6868970T>CCA478164653TPI1c.222T>C (p.Ala74=)
c.333T>C (p.Ala111=)
c.-25T>C (n.-25T>C)
n.955T>C
 gnomAD v4
12g.6868970T>GCA478164654TPI1c.222T>G (p.Ala74=)
c.333T>G (p.Ala111=)
c.-25T>G (n.-25T>G)
n.955T>G
12g.6868971T>ACA383709670TPI1c.223T>A (p.Phe75Ile)
c.334T>A (p.Phe112Ile)
c.-24T>A (n.-24T>A)
n.956T>A
12g.6868971T>CCA383709671TPI1c.223T>C (p.Phe75Leu)
c.334T>C (p.Phe112Leu)
c.-24T>C (n.-24T>C)
n.956T>C
12g.6868971T>GCA383709672TPI1c.223T>G (p.Phe75Val)
c.334T>G (p.Phe112Val)
c.-24T>G (n.-24T>G)
n.956T>G
12g.6868972T>ACA383709673TPI1c.224T>A (p.Phe75Tyr)
c.335T>A (p.Phe112Tyr)
c.-23T>A (n.-23T>A)
n.957T>A
12g.6868972T>CCA383709674TPI1c.224T>C (p.Phe75Ser)
c.335T>C (p.Phe112Ser)
c.-23T>C (n.-23T>C)
n.957T>C
12g.6868972T>GCA383709675TPI1c.224T>G (p.Phe75Cys)
c.335T>G (p.Phe112Cys)
c.-23T>G (n.-23T>G)
n.957T>G
12g.6868973T>ACA383709677TPI1c.225T>A (p.Phe75Leu)
c.336T>A (p.Phe112Leu)
c.-22T>A (n.-22T>A)
n.958T>A
12g.6868973T>CCA478164656TPI1c.225T>C (p.Phe75=)
c.336T>C (p.Phe112=)
c.-22T>C (n.-22T>C)
n.958T>C
12g.6868973T>GCA383709676TPI1c.225T>G (p.Phe75Leu)
c.336T>G (p.Phe112Leu)
c.-22T>G (n.-22T>G)
n.958T>G
12g.6868974A>CCA383709678TPI1c.226A>C (p.Thr76Pro)
c.337A>C (p.Thr113Pro)
c.-21A>C (n.-21A>C)
n.959A>C
12g.6868974A>GCA383709679TPI1c.226A>G (p.Thr76Ala)
c.337A>G (p.Thr113Ala)
c.-21A>G (n.-21A>G)
n.959A>G
12g.6868974A>TCA383709680TPI1c.226A>T (p.Thr76Ser)
c.337A>T (p.Thr113Ser)
c.-21A>T (n.-21A>T)
n.959A>T
12g.6868975C>ACA383709681TPI1c.227C>A (p.Thr76Asn)
c.338C>A (p.Thr113Asn)
c.-20C>A (n.-20C>A)
n.960C>A
12g.6868975C>GCA383709682TPI1c.227C>G (p.Thr76Ser)
c.338C>G (p.Thr113Ser)
c.-20C>G (n.-20C>G)
n.960C>G
 ClinVar
12g.6868975C>TCA383709683TPI1c.227C>T (p.Thr76Ile)
c.338C>T (p.Thr113Ile)
c.-20C>T (n.-20C>T)
n.960C>T
12g.6868976T>ACA478164657TPI1c.228T>A (p.Thr76=)
c.339T>A (p.Thr113=)
c.-19T>A (n.-19T>A)
n.961T>A
12g.6868976T>CCA478164658TPI1c.228T>C (p.Thr76=)
c.339T>C (p.Thr113=)
c.-19T>C (n.-19T>C)
n.961T>C
12g.6868976T>GCA478164659TPI1c.228T>G (p.Thr76=)
c.339T>G (p.Thr113=)
c.-19T>G (n.-19T>G)
n.961T>G
12g.6868976_6868977insAATCA2575062069TPI1c.228_229insAAT (p.Thr76_Gly77insAsn)
c.339_340insAAT (p.Thr113_Gly114insAsn)
c.-19_-18insAAT (n.-19_-18insAAT)
n.961_962insAAT
12g.6868977G>ACA383709684TPI1c.229G>A (p.Gly77Arg)
c.340G>A (p.Gly114Arg)
c.-18G>A (n.-18G>A)
n.962G>A
12g.6868977G>CCA383709686TPI1c.229G>C (p.Gly77Arg)
c.340G>C (p.Gly114Arg)
c.-18G>C (n.-18G>C)
n.962G>C
12g.6868977G>TCA383709685TPI1c.229G>T (p.Gly77Trp)
c.340G>T (p.Gly114Trp)
c.-18G>T (n.-18G>T)
n.962G>T
12g.6868978G>ACA383709687TPI1c.230G>A (p.Gly77Glu)
c.341G>A (p.Gly114Glu)
c.-17G>A (n.-17G>A)
n.963G>A
12g.6868978G>CCA383709688TPI1c.230G>C (p.Gly77Ala)
c.341G>C (p.Gly114Ala)
c.-17G>C (n.-17G>C)
n.963G>C
12g.6868978G>TCA383709689TPI1c.230G>T (p.Gly77Val)
c.341G>T (p.Gly114Val)
c.-17G>T (n.-17G>T)
n.963G>T
12g.6868979G>ACA478164660TPI1c.231G>A (p.Gly77=)
c.342G>A (p.Gly114=)
c.-16G>A (n.-16G>A)
n.964G>A
12g.6868979G>CCA478164661TPI1c.231G>C (p.Gly77=)
c.342G>C (p.Gly114=)
c.-16G>C (n.-16G>C)
n.964G>C
12g.6868979G>TCA478164662TPI1c.231G>T (p.Gly77=)
c.342G>T (p.Gly114=)
c.-16G>T (n.-16G>T)
n.964G>T
12g.6868980G>ACA383709690TPI1c.232G>A (p.Glu78Lys)
c.343G>A (p.Glu115Lys)
c.-15G>A (n.-15G>A)
n.965G>A
12g.6868980G>CCA383709691TPI1c.232G>C (p.Glu78Gln)
c.343G>C (p.Glu115Gln)
c.-15G>C (n.-15G>C)
n.965G>C
12g.6868980G>TCA383709692TPI1c.232G>T (p.Glu78Ter)
c.343G>T (p.Glu115Ter)
c.-15G>T (n.-15G>T)
n.965G>T

Number of alleles fetched