Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.72059151_72063259delCA645372599TXNL4Bc.285-18901_285-14793del (n.285-18901_285-14793del)
 ClinVar
16g.72060220A>CCA396676588HP,TXNL4Bc.551A>C (p.Asn184Thr)
c.176A>C (p.Asn59Thr)
c.659A>C (p.Asn220Thr)
c.374A>C (p.Asn125Thr)
c.285-15863T>G (n.285-15863T>G)
c.266-443A>C (n.266-443A>C)
c.266-12A>C (n.266-12A>C)
n.2190A>C
c.543A>C
c.438-12A>C
16g.72060220A>GCA396676589HP,TXNL4Bc.551A>G (p.Asn184Ser)
c.176A>G (p.Asn59Ser)
c.659A>G (p.Asn220Ser)
c.374A>G (p.Asn125Ser)
c.285-15863T>C (n.285-15863T>C)
c.266-443A>G (n.266-443A>G)
c.266-12A>G (n.266-12A>G)
n.2190A>G
c.543A>G
c.438-12A>G
 gnomAD v4
16g.72060220A>TCA396676592HP,TXNL4Bc.551A>T (p.Asn184Ile)
c.176A>T (p.Asn59Ile)
c.659A>T (p.Asn220Ile)
c.374A>T (p.Asn125Ile)
c.285-15863T>A (n.285-15863T>A)
c.266-443A>T (n.266-443A>T)
c.266-12A>T (n.266-12A>T)
n.2190A>T
c.543A>T
c.438-12A>T
16g.72060221T>ACA396676595HP,TXNL4Bc.552T>A (p.Asn184Lys)
c.177T>A (p.Asn59Lys)
c.660T>A (p.Asn220Lys)
c.375T>A (p.Asn125Lys)
c.285-15864A>T (n.285-15864A>T)
c.266-442T>A (n.266-442T>A)
c.266-11T>A (n.266-11T>A)
n.2191T>A
c.544T>A
c.438-11T>A
16g.72060221T>CCA496414586HP,TXNL4Bc.552T>C (p.Asn184=)
c.177T>C (p.Asn59=)
c.660T>C (p.Asn220=)
c.375T>C (p.Asn125=)
c.285-15864A>G (n.285-15864A>G)
c.266-442T>C (n.266-442T>C)
c.266-11T>C (n.266-11T>C)
n.2191T>C
c.544T>C
c.438-11T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.72060221T>GCA396676598HP,TXNL4Bc.552T>G (p.Asn184Lys)
c.177T>G (p.Asn59Lys)
c.660T>G (p.Asn220Lys)
c.375T>G (p.Asn125Lys)
c.285-15864A>C (n.285-15864A>C)
c.266-442T>G (n.266-442T>G)
c.266-11T>G (n.266-11T>G)
n.2191T>G
c.544T>G
c.438-11T>G
16g.72060221T=CA2231555157HP,TXNL4Bc.552T= (p.Asn184=)
c.177T= (p.Asn59=)
c.660T= (p.Asn220=)
c.375T= (p.Asn125=)
c.285-15864A= (n.285-15864A=)
c.266-442T= (n.266-442T=)
c.266-11T= (n.266-11T=)
n.2191T=
c.544T=
c.438-11T=
16g.72060222C>ACA396676601HP,TXNL4Bc.553C>A (p.Leu185Ile)
c.178C>A (p.Leu60Ile)
c.661C>A (p.Leu221Ile)
c.376C>A (p.Leu126Ile)
c.285-15865G>T (n.285-15865G>T)
c.266-441C>A (n.266-441C>A)
c.266-10C>A (n.266-10C>A)
n.2192C>A
c.545C>A
c.438-10C>A
16g.72060222C=CA2231555159HP,TXNL4Bc.553C= (p.Leu185=)
c.178C= (p.Leu60=)
c.661C= (p.Leu221=)
c.376C= (p.Leu126=)
c.285-15865G= (n.285-15865G=)
c.266-441C= (n.266-441C=)
c.266-10C= (n.266-10C=)
n.2192C=
c.545C=
c.438-10C=
16g.72060222C>GCA396676604HP,TXNL4Bc.553C>G (p.Leu185Val)
c.178C>G (p.Leu60Val)
c.661C>G (p.Leu221Val)
c.376C>G (p.Leu126Val)
c.285-15865G>C (n.285-15865G>C)
c.266-441C>G (n.266-441C>G)
c.266-10C>G (n.266-10C>G)
n.2192C>G
c.545C>G
c.438-10C>G
16g.72060222C>TCA396676606HP,TXNL4Bc.553C>T (p.Leu185Phe)
c.178C>T (p.Leu60Phe)
c.661C>T (p.Leu221Phe)
c.376C>T (p.Leu126Phe)
c.285-15865G>A (n.285-15865G>A)
c.266-441C>T (n.266-441C>T)
c.266-10C>T (n.266-10C>T)
n.2192C>T
c.545C>T
c.438-10C>T
 dbSNP
16g.72060222_72060223delinsCTCA2231555158HP,TXNL4Bc.553_554delinsCT (p.Leu185=)
c.178_179delinsCT (p.Leu60=)
c.661_662delinsCT (p.Leu221=)
c.376_377delinsCT (p.Leu126=)
c.285-15866_285-15865delinsAG (n.285-15866_285-15865delinsAG)
c.266-441_266-440delinsCT (n.266-441_266-440delinsCT)
c.266-10_266-9delinsCT (n.266-10_266-9delinsCT)
n.2192_2193delinsCT
c.545_546delinsCT
c.438-10_438-9delinsCT
16g.72060223_72060238delCA645575942HP,TXNL4Bc.554_569del (p.Leu185ArgfsTer2)
c.179_194del (p.Leu60ArgfsTer2)
c.662_677del (p.Leu221ArgfsTer2)
c.377_392del (p.Leu126ArgfsTer2)
c.285-15880_285-15865del (n.285-15880_285-15865del)
c.266-440_266-425del (n.266-440_266-425del)
c.266-9_272del
n.2193_2208del
c.546_561del
c.438-9_444del
 COSMIC
16g.72060223delCA283640644HP,TXNL4Bc.554del (p.Leu185ProfsTer7)
c.179del (p.Leu60ProfsTer7)
c.662del (p.Leu221ProfsTer7)
c.377del (p.Leu126ProfsTer7)
c.285-15866del (n.285-15866del)
c.266-440del (n.266-440del)
c.266-9del (n.266-9del)
n.2193del
c.546del
c.438-9del
 dbSNP gnomAD v4
16g.72060223T>ACA396676609HP,TXNL4Bc.554T>A (p.Leu185His)
c.179T>A (p.Leu60His)
c.662T>A (p.Leu221His)
c.377T>A (p.Leu126His)
c.285-15866A>T (n.285-15866A>T)
c.266-440T>A (n.266-440T>A)
c.266-9T>A (n.266-9T>A)
n.2193T>A
c.546T>A
c.438-9T>A
16g.72060223T>CCA396676611HP,TXNL4Bc.554T>C (p.Leu185Pro)
c.179T>C (p.Leu60Pro)
c.662T>C (p.Leu221Pro)
c.377T>C (p.Leu126Pro)
c.285-15866A>G (n.285-15866A>G)
c.266-440T>C (n.266-440T>C)
c.266-9T>C (n.266-9T>C)
n.2193T>C
c.546T>C
c.438-9T>C
 COSMIC
16g.72060223T>GCA396676613HP,TXNL4Bc.554T>G (p.Leu185Arg)
c.179T>G (p.Leu60Arg)
c.662T>G (p.Leu221Arg)
c.377T>G (p.Leu126Arg)
c.285-15866A>C (n.285-15866A>C)
c.266-440T>G (n.266-440T>G)
c.266-9T>G (n.266-9T>G)
n.2193T>G
c.546T>G
c.438-9T>G
16g.72060224C>ACA496414587HP,TXNL4Bc.555C>A (p.Leu185=)
c.180C>A (p.Leu60=)
c.663C>A (p.Leu221=)
c.378C>A (p.Leu126=)
c.285-15867G>T (n.285-15867G>T)
c.266-439C>A (n.266-439C>A)
c.266-8C>A (n.266-8C>A)
n.2194C>A
c.547C>A
c.438-8C>A
16g.72060224C>GCA496414588HP,TXNL4Bc.555C>G (p.Leu185=)
c.180C>G (p.Leu60=)
c.663C>G (p.Leu221=)
c.378C>G (p.Leu126=)
c.285-15867G>C (n.285-15867G>C)
c.266-439C>G (n.266-439C>G)
c.266-8C>G (n.266-8C>G)
n.2194C>G
c.547C>G
c.438-8C>G
16g.72060224C>TCA496414589HP,TXNL4Bc.555C>T (p.Leu185=)
c.180C>T (p.Leu60=)
c.663C>T (p.Leu221=)
c.378C>T (p.Leu126=)
c.285-15867G>A (n.285-15867G>A)
c.266-439C>T (n.266-439C>T)
c.266-8C>T (n.266-8C>T)
n.2194C>T
c.547C>T
c.438-8C>T
16g.72060225A>CCA396676616HP,TXNL4Bc.556A>C (p.Thr186Pro)
c.181A>C (p.Thr61Pro)
c.664A>C (p.Thr222Pro)
c.379A>C (p.Thr127Pro)
c.285-15868T>G (n.285-15868T>G)
c.266-438A>C (n.266-438A>C)
c.266-7A>C (n.266-7A>C)
n.2195A>C
c.548A>C
c.438-7A>C
16g.72060225A>GCA396676620HP,TXNL4Bc.556A>G (p.Thr186Ala)
c.181A>G (p.Thr61Ala)
c.664A>G (p.Thr222Ala)
c.379A>G (p.Thr127Ala)
c.285-15868T>C (n.285-15868T>C)
c.266-438A>G (n.266-438A>G)
c.266-7A>G (n.266-7A>G)
n.2195A>G
c.548A>G
c.438-7A>G
16g.72060225A>TCA396676622HP,TXNL4Bc.556A>T (p.Thr186Ser)
c.181A>T (p.Thr61Ser)
c.664A>T (p.Thr222Ser)
c.379A>T (p.Thr127Ser)
c.285-15868T>A (n.285-15868T>A)
c.266-438A>T (n.266-438A>T)
c.266-7A>T (n.266-7A>T)
n.2195A>T
c.548A>T
c.438-7A>T
16g.72060225_72060226delinsACCA2231555160HP,TXNL4Bc.556_557delinsAC (p.Thr186=)
c.181_182delinsAC (p.Thr61=)
c.664_665delinsAC (p.Thr222=)
c.379_380delinsAC (p.Thr127=)
c.285-15869_285-15868delinsGT (n.285-15869_285-15868delinsGT)
c.266-438_266-437delinsAC (n.266-438_266-437delinsAC)
c.266-7_266-6delinsAC (n.266-7_266-6delinsAC)
n.2195_2196delinsAC
c.548_549delinsAC
c.438-7_438-6delinsAC
16g.72060226C>ACA396676626HP,TXNL4Bc.557C>A (p.Thr186Asn)
c.182C>A (p.Thr61Asn)
c.665C>A (p.Thr222Asn)
c.380C>A (p.Thr127Asn)
c.285-15869G>T (n.285-15869G>T)
c.266-437C>A (n.266-437C>A)
c.266-6C>A (n.266-6C>A)
n.2196C>A
c.549C>A
c.438-6C>A
16g.72060226C>GCA396676628HP,TXNL4Bc.557C>G (p.Thr186Ser)
c.182C>G (p.Thr61Ser)
c.665C>G (p.Thr222Ser)
c.380C>G (p.Thr127Ser)
c.285-15869G>C (n.285-15869G>C)
c.266-437C>G (n.266-437C>G)
c.266-6C>G (n.266-6C>G)
n.2196C>G
c.549C>G
c.438-6C>G
16g.72060226C>TCA396676630HP,TXNL4Bc.557C>T (p.Thr186Ile)
c.182C>T (p.Thr61Ile)
c.665C>T (p.Thr222Ile)
c.380C>T (p.Thr127Ile)
c.285-15869G>A (n.285-15869G>A)
c.266-437C>T (n.266-437C>T)
c.266-6C>T (n.266-6C>T)
n.2196C>T
c.549C>T
c.438-6C>T
 gnomAD v4
16g.72060227delCA623580372HP,TXNL4Bc.558del (p.Thr187GlnfsTer5)
c.183del (p.Thr62GlnfsTer5)
c.666del (p.Thr223GlnfsTer5)
c.381del (p.Thr128GlnfsTer5)
c.285-15869del (n.285-15869del)
c.266-436del (n.266-436del)
c.266-5del (n.266-5del)
n.2197del
c.550del
c.438-5del
 dbSNP gnomAD v2 gnomAD v4
16g.72060227C>ACA496414590HP,TXNL4Bc.558C>A (p.Thr186=)
c.183C>A (p.Thr61=)
c.666C>A (p.Thr222=)
c.381C>A (p.Thr127=)
c.285-15870G>T (n.285-15870G>T)
c.266-436C>A (n.266-436C>A)
c.266-5C>A (n.266-5C>A)
n.2197C>A
c.550C>A
c.438-5C>A
16g.72060227C=CA2231555161HP,TXNL4Bc.558C= (p.Thr186=)
c.183C= (p.Thr61=)
c.666C= (p.Thr222=)
c.381C= (p.Thr127=)
c.285-15870G= (n.285-15870G=)
c.266-436C= (n.266-436C=)
c.266-5C= (n.266-5C=)
n.2197C=
c.550C=
c.438-5C=
16g.72060227C>GCA496414591HP,TXNL4Bc.558C>G (p.Thr186=)
c.183C>G (p.Thr61=)
c.666C>G (p.Thr222=)
c.381C>G (p.Thr127=)
c.285-15870G>C (n.285-15870G>C)
c.266-436C>G (n.266-436C>G)
c.266-5C>G (n.266-5C>G)
n.2197C>G
c.550C>G
c.438-5C>G
16g.72060227C>TCA8159135HP,TXNL4Bc.558C>T (p.Thr186=)
c.183C>T (p.Thr61=)
c.666C>T (p.Thr222=)
c.381C>T (p.Thr127=)
c.285-15870G>A (n.285-15870G>A)
c.266-436C>T (n.266-436C>T)
c.266-5C>T (n.266-5C>T)
n.2197C>T
c.550C>T
c.438-5C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060228A=CA2231555162HP,TXNL4Bc.559A= (p.Thr187=)
c.184A= (p.Thr62=)
c.667A= (p.Thr223=)
c.382A= (p.Thr128=)
c.285-15871T= (n.285-15871T=)
c.266-435A= (n.266-435A=)
c.266-4A= (n.266-4A=)
n.2198A=
c.551A=
c.438-4A=
16g.72060228A>CCA396676637HP,TXNL4Bc.559A>C (p.Thr187Pro)
c.184A>C (p.Thr62Pro)
c.667A>C (p.Thr223Pro)
c.382A>C (p.Thr128Pro)
c.285-15871T>G (n.285-15871T>G)
c.266-435A>C (n.266-435A>C)
c.266-4A>C (n.266-4A>C)
n.2198A>C
c.551A>C
c.438-4A>C
16g.72060228A>GCA8159136HP,TXNL4Bc.559A>G (p.Thr187Ala)
c.184A>G (p.Thr62Ala)
c.667A>G (p.Thr223Ala)
c.382A>G (p.Thr128Ala)
c.285-15871T>C (n.285-15871T>C)
c.266-435A>G (n.266-435A>G)
c.266-4A>G (n.266-4A>G)
n.2198A>G
c.551A>G
c.438-4A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060228A>TCA396676640HP,TXNL4Bc.559A>T (p.Thr187Ser)
c.184A>T (p.Thr62Ser)
c.667A>T (p.Thr223Ser)
c.382A>T (p.Thr128Ser)
c.285-15871T>A (n.285-15871T>A)
c.266-435A>T (n.266-435A>T)
c.266-4A>T (n.266-4A>T)
n.2198A>T
c.551A>T
c.438-4A>T
16g.72060229C>ACA396676643HP,TXNL4Bc.560C>A (p.Thr187Lys)
c.185C>A (p.Thr62Lys)
c.668C>A (p.Thr223Lys)
c.383C>A (p.Thr128Lys)
c.285-15872G>T (n.285-15872G>T)
c.266-434C>A (n.266-434C>A)
c.266-3C>A (n.266-3C>A)
n.2199C>A
c.552C>A
c.438-3C>A
16g.72060229C>GCA396676645HP,TXNL4Bc.560C>G (p.Thr187Arg)
c.185C>G (p.Thr62Arg)
c.668C>G (p.Thr223Arg)
c.383C>G (p.Thr128Arg)
c.285-15872G>C (n.285-15872G>C)
c.266-434C>G (n.266-434C>G)
c.266-3C>G (n.266-3C>G)
n.2199C>G
c.552C>G
c.438-3C>G
16g.72060229C>TCA396676646HP,TXNL4Bc.560C>T (p.Thr187Ile)
c.185C>T (p.Thr62Ile)
c.668C>T (p.Thr223Ile)
c.383C>T (p.Thr128Ile)
c.285-15872G>A (n.285-15872G>A)
c.266-434C>T (n.266-434C>T)
c.266-3C>T (n.266-3C>T)
n.2199C>T
c.552C>T
c.438-3C>T
16g.72060230A>CCA396676650HP,TXNL4Bc.561A>C (p.Thr187=)
c.186A>C (p.Thr62=)
c.669A>C (p.Thr223=)
c.384A>C (p.Thr128=)
c.285-15873T>G (n.285-15873T>G)
c.266-433A>C (n.266-433A>C)
c.266-2A>C (n.266-2A>C)
n.2200A>C
c.553A>C
c.438-2A>C
16g.72060230A>GCA396676652HP,TXNL4Bc.561A>G (p.Thr187=)
c.186A>G (p.Thr62=)
c.669A>G (p.Thr223=)
c.384A>G (p.Thr128=)
c.285-15873T>C (n.285-15873T>C)
c.266-433A>G (n.266-433A>G)
c.266-2A>G (n.266-2A>G)
n.2200A>G
c.553A>G
c.438-2A>G
16g.72060230A>TCA396676655HP,TXNL4Bc.561A>T (p.Thr187=)
c.186A>T (p.Thr62=)
c.669A>T (p.Thr223=)
c.384A>T (p.Thr128=)
c.285-15873T>A (n.285-15873T>A)
c.266-433A>T (n.266-433A>T)
c.266-2A>T (n.266-2A>T)
n.2200A>T
c.553A>T
c.438-2A>T
16g.72060231G>ACA396676658HP,TXNL4Bc.562G>A (p.Gly188Ser)
c.187G>A (p.Gly63Ser)
c.670G>A (p.Gly224Ser)
c.385G>A (p.Gly129Ser)
c.285-15874C>T (n.285-15874C>T)
c.266-432G>A (n.266-432G>A)
c.266-1G>A (n.266-1G>A)
n.2201G>A
c.554G>A
c.438-1G>A
16g.72060231G>CCA396676660HP,TXNL4Bc.562G>C (p.Gly188Arg)
c.187G>C (p.Gly63Arg)
c.670G>C (p.Gly224Arg)
c.385G>C (p.Gly129Arg)
c.285-15874C>G (n.285-15874C>G)
c.266-432G>C (n.266-432G>C)
c.266-1G>C (n.266-1G>C)
n.2201G>C
c.554G>C
c.438-1G>C
16g.72060231G=CA2231555163HP,TXNL4Bc.562G= (p.Gly188=)
c.187G= (p.Gly63=)
c.670G= (p.Gly224=)
c.385G= (p.Gly129=)
c.285-15874C= (n.285-15874C=)
c.266-432G= (n.266-432G=)
c.266-1G= (n.266-1G=)
n.2201G=
c.554G=
c.438-1G=
16g.72060231G>TCA396676663HP,TXNL4Bc.562G>T (p.Gly188Cys)
c.187G>T (p.Gly63Cys)
c.670G>T (p.Gly224Cys)
c.385G>T (p.Gly129Cys)
c.285-15874C>A (n.285-15874C>A)
c.266-432G>T (n.266-432G>T)
c.266-1G>T (n.266-1G>T)
n.2201G>T
c.554G>T
c.438-1G>T
 dbSNP gnomAD v4
16g.72060232G>ACA396676666HP,TXNL4Bc.563G>A (p.Gly188Asp)
c.188G>A (p.Gly63Asp)
c.671G>A (p.Gly224Asp)
c.386G>A (p.Gly129Asp)
c.285-15875C>T (n.285-15875C>T)
c.266-431G>A (n.266-431G>A)
c.266G>A (p.Gly89Asp)
n.2202G>A
c.555G>A
c.438G>A
 dbSNP
16g.72060232G>CCA396676669HP,TXNL4Bc.563G>C (p.Gly188Ala)
c.188G>C (p.Gly63Ala)
c.671G>C (p.Gly224Ala)
c.386G>C (p.Gly129Ala)
c.285-15875C>G (n.285-15875C>G)
c.266-431G>C (n.266-431G>C)
c.266G>C (p.Gly89Ala)
n.2202G>C
c.555G>C
c.438G>C
 gnomAD v4
16g.72060232G=CA2231555164HP,TXNL4Bc.563G= (p.Gly188=)
c.188G= (p.Gly63=)
c.671G= (p.Gly224=)
c.386G= (p.Gly129=)
c.285-15875C= (n.285-15875C=)
c.266-431G= (n.266-431G=)
c.266G= (p.Gly89=)
n.2202G=
c.555G=
c.438G=
16g.72060232G>TCA396676671HP,TXNL4Bc.563G>T (p.Gly188Val)
c.188G>T (p.Gly63Val)
c.671G>T (p.Gly224Val)
c.386G>T (p.Gly129Val)
c.285-15875C>A (n.285-15875C>A)
c.266-431G>T (n.266-431G>T)
c.266G>T (p.Gly89Val)
n.2202G>T
c.555G>T
c.438G>T
16g.72060233T>ACA496414592HP,TXNL4Bc.564T>A (p.Gly188=)
c.189T>A (p.Gly63=)
c.672T>A (p.Gly224=)
c.387T>A (p.Gly129=)
c.285-15876A>T (n.285-15876A>T)
c.266-430T>A (n.266-430T>A)
c.267T>A (p.Gly89=)
n.2203T>A
c.556T>A
c.439T>A
16g.72060233T>CCA283640656HP,TXNL4Bc.564T>C (p.Gly188=)
c.189T>C (p.Gly63=)
c.672T>C (p.Gly224=)
c.387T>C (p.Gly129=)
c.285-15876A>G (n.285-15876A>G)
c.266-430T>C (n.266-430T>C)
c.267T>C (p.Gly89=)
n.2203T>C
c.556T>C
c.439T>C
 dbSNP
16g.72060233T>GCA8159137HP,TXNL4Bc.564T>G (p.Gly188=)
c.189T>G (p.Gly63=)
c.672T>G (p.Gly224=)
c.387T>G (p.Gly129=)
c.285-15876A>C (n.285-15876A>C)
c.266-430T>G (n.266-430T>G)
c.267T>G (p.Gly89=)
n.2203T>G
c.556T>G
c.439T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060233T=CA2231555165HP,TXNL4Bc.564T= (p.Gly188=)
c.189T= (p.Gly63=)
c.672T= (p.Gly224=)
c.387T= (p.Gly129=)
c.285-15876A= (n.285-15876A=)
c.266-430T= (n.266-430T=)
c.267T= (p.Gly89=)
n.2203T=
c.556T=
c.439T=
16g.72060234delCA2634177601HP,TXNL4Bc.565del (p.Ala189ProfsTer3)
c.190del (p.Ala64ProfsTer3)
c.673del (p.Ala225ProfsTer3)
c.388del (p.Ala130ProfsTer3)
c.285-15877del (n.285-15877del)
c.266-429del (n.266-429del)
c.268del (p.Ala90ProfsTer3)
n.2204del
c.557del
c.440del
 gnomAD v4
16g.72060234G>ACA8159138HP,TXNL4Bc.565G>A (p.Ala189Thr)
c.190G>A (p.Ala64Thr)
c.673G>A (p.Ala225Thr)
c.388G>A (p.Ala130Thr)
c.285-15877C>T (n.285-15877C>T)
c.266-429G>A (n.266-429G>A)
c.268G>A (p.Ala90Thr)
n.2204G>A
c.557G>A
c.440G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060234G>CCA396676680HP,TXNL4Bc.565G>C (p.Ala189Pro)
c.190G>C (p.Ala64Pro)
c.673G>C (p.Ala225Pro)
c.388G>C (p.Ala130Pro)
c.285-15877C>G (n.285-15877C>G)
c.266-429G>C (n.266-429G>C)
c.268G>C (p.Ala90Pro)
n.2204G>C
c.557G>C
c.440G>C
16g.72060234G=CA2231555166HP,TXNL4Bc.565G= (p.Ala189=)
c.190G= (p.Ala64=)
c.673G= (p.Ala225=)
c.388G= (p.Ala130=)
c.285-15877C= (n.285-15877C=)
c.266-429G= (n.266-429G=)
c.268G= (p.Ala90=)
n.2204G=
c.557G=
c.440G=
16g.72060234G>TCA396676683HP,TXNL4Bc.565G>T (p.Ala189Ser)
c.190G>T (p.Ala64Ser)
c.673G>T (p.Ala225Ser)
c.388G>T (p.Ala130Ser)
c.285-15877C>A (n.285-15877C>A)
c.266-429G>T (n.266-429G>T)
c.268G>T (p.Ala90Ser)
n.2204G>T
c.557G>T
c.440G>T
16g.72060235C>ACA396676686HP,TXNL4Bc.566C>A (p.Ala189Asp)
c.191C>A (p.Ala64Asp)
c.674C>A (p.Ala225Asp)
c.389C>A (p.Ala130Asp)
c.285-15878G>T (n.285-15878G>T)
c.266-428C>A (n.266-428C>A)
c.269C>A (p.Ala90Asp)
n.2205C>A
c.558C>A
c.441C>A
16g.72060235C>GCA396676689HP,TXNL4Bc.566C>G (p.Ala189Gly)
c.191C>G (p.Ala64Gly)
c.674C>G (p.Ala225Gly)
c.389C>G (p.Ala130Gly)
c.285-15878G>C (n.285-15878G>C)
c.266-428C>G (n.266-428C>G)
c.269C>G (p.Ala90Gly)
n.2205C>G
c.558C>G
c.441C>G
16g.72060235C>TCA396676693HP,TXNL4Bc.566C>T (p.Ala189Val)
c.191C>T (p.Ala64Val)
c.674C>T (p.Ala225Val)
c.389C>T (p.Ala130Val)
c.285-15878G>A (n.285-15878G>A)
c.266-428C>T (n.266-428C>T)
c.269C>T (p.Ala90Val)
n.2205C>T
c.558C>T
c.441C>T
16g.72060236C>ACA496414593HP,TXNL4Bc.567C>A (p.Ala189=)
c.192C>A (p.Ala64=)
c.675C>A (p.Ala225=)
c.390C>A (p.Ala130=)
c.285-15879G>T (n.285-15879G>T)
c.266-427C>A (n.266-427C>A)
c.270C>A (p.Ala90=)
n.2206C>A
c.559C>A
c.442C>A
16g.72060236C=CA2231555167HP,TXNL4Bc.567C= (p.Ala189=)
c.192C= (p.Ala64=)
c.675C= (p.Ala225=)
c.390C= (p.Ala130=)
c.285-15879G= (n.285-15879G=)
c.266-427C= (n.266-427C=)
c.270C= (p.Ala90=)
n.2206C=
c.559C=
c.442C=
16g.72060236C>GCA8159139HP,TXNL4Bc.567C>G (p.Ala189=)
c.192C>G (p.Ala64=)
c.675C>G (p.Ala225=)
c.390C>G (p.Ala130=)
c.285-15879G>C (n.285-15879G>C)
c.266-427C>G (n.266-427C>G)
c.270C>G (p.Ala90=)
n.2206C>G
c.559C>G
c.442C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060236C>TCA496414594HP,TXNL4Bc.567C>T (p.Ala189=)
c.192C>T (p.Ala64=)
c.675C>T (p.Ala225=)
c.390C>T (p.Ala130=)
c.285-15879G>A (n.285-15879G>A)
c.266-427C>T (n.266-427C>T)
c.270C>T (p.Ala90=)
n.2206C>T
c.559C>T
c.442C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.72060237A=CA2231555168HP,TXNL4Bc.568A= (p.Thr190=)
c.193A= (p.Thr65=)
c.676A= (p.Thr226=)
c.391A= (p.Thr131=)
c.285-15880T= (n.285-15880T=)
c.266-426A= (n.266-426A=)
c.271A= (p.Thr91=)
n.2207A=
c.560A=
c.443A=
16g.72060237A>CCA396676699HP,TXNL4Bc.568A>C (p.Thr190Pro)
c.193A>C (p.Thr65Pro)
c.676A>C (p.Thr226Pro)
c.391A>C (p.Thr131Pro)
c.285-15880T>G (n.285-15880T>G)
c.266-426A>C (n.266-426A>C)
c.271A>C (p.Thr91Pro)
n.2207A>C
c.560A>C
c.443A>C
16g.72060237A>GCA396676701HP,TXNL4Bc.568A>G (p.Thr190Ala)
c.193A>G (p.Thr65Ala)
c.676A>G (p.Thr226Ala)
c.391A>G (p.Thr131Ala)
c.285-15880T>C (n.285-15880T>C)
c.266-426A>G (n.266-426A>G)
c.271A>G (p.Thr91Ala)
n.2207A>G
c.560A>G
c.443A>G
 dbSNP gnomAD v3 gnomAD v4
16g.72060237A>TCA396676703HP,TXNL4Bc.568A>T (p.Thr190Ser)
c.193A>T (p.Thr65Ser)
c.676A>T (p.Thr226Ser)
c.391A>T (p.Thr131Ser)
c.285-15880T>A (n.285-15880T>A)
c.266-426A>T (n.266-426A>T)
c.271A>T (p.Thr91Ser)
n.2207A>T
c.560A>T
c.443A>T
16g.72060238C>ACA396676704HP,TXNL4Bc.569C>A (p.Thr190Lys)
c.194C>A (p.Thr65Lys)
c.677C>A (p.Thr226Lys)
c.392C>A (p.Thr131Lys)
c.285-15881G>T (n.285-15881G>T)
c.266-425C>A (n.266-425C>A)
c.272C>A (p.Thr91Lys)
n.2208C>A
c.561C>A
c.444C>A
16g.72060238C=CA2231555169HP,TXNL4Bc.569C= (p.Thr190=)
c.194C= (p.Thr65=)
c.677C= (p.Thr226=)
c.392C= (p.Thr131=)
c.285-15881G= (n.285-15881G=)
c.266-425C= (n.266-425C=)
c.272C= (p.Thr91=)
n.2208C=
c.561C=
c.444C=
16g.72060238C>GCA396676705HP,TXNL4Bc.569C>G (p.Thr190Arg)
c.194C>G (p.Thr65Arg)
c.677C>G (p.Thr226Arg)
c.392C>G (p.Thr131Arg)
c.285-15881G>C (n.285-15881G>C)
c.266-425C>G (n.266-425C>G)
c.272C>G (p.Thr91Arg)
n.2208C>G
c.561C>G
c.444C>G
16g.72060238C>TCA8159140HP,TXNL4Bc.569C>T (p.Thr190Met)
c.194C>T (p.Thr65Met)
c.677C>T (p.Thr226Met)
c.392C>T (p.Thr131Met)
c.285-15881G>A (n.285-15881G>A)
c.266-425C>T (n.266-425C>T)
c.272C>T (p.Thr91Met)
n.2208C>T
c.561C>T
c.444C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060239G>ACA496414595HP,TXNL4Bc.570G>A (p.Thr190=)
c.195G>A (p.Thr65=)
c.678G>A (p.Thr226=)
c.393G>A (p.Thr131=)
c.285-15882C>T (n.285-15882C>T)
c.266-424G>A (n.266-424G>A)
c.273G>A (p.Thr91=)
n.2209G>A
c.562G>A
c.445G>A
 dbSNP gnomAD v3 gnomAD v4
16g.72060239G>CCA496414596HP,TXNL4Bc.570G>C (p.Thr190=)
c.195G>C (p.Thr65=)
c.678G>C (p.Thr226=)
c.393G>C (p.Thr131=)
c.285-15882C>G (n.285-15882C>G)
c.266-424G>C (n.266-424G>C)
c.273G>C (p.Thr91=)
n.2209G>C
c.562G>C
c.445G>C
16g.72060239G=CA2231555170HP,TXNL4Bc.570G= (p.Thr190=)
c.195G= (p.Thr65=)
c.678G= (p.Thr226=)
c.393G= (p.Thr131=)
c.285-15882C= (n.285-15882C=)
c.266-424G= (n.266-424G=)
c.273G= (p.Thr91=)
n.2209G=
c.562G=
c.445G=
16g.72060239G>TCA496414597HP,TXNL4Bc.570G>T (p.Thr190=)
c.195G>T (p.Thr65=)
c.678G>T (p.Thr226=)
c.393G>T (p.Thr131=)
c.285-15882C>A (n.285-15882C>A)
c.266-424G>T (n.266-424G>T)
c.273G>T (p.Thr91=)
n.2209G>T
c.562G>T
c.445G>T
16g.72060240C>ACA396676711HP,TXNL4Bc.571C>A (p.Leu191Met)
c.196C>A (p.Leu66Met)
c.679C>A (p.Leu227Met)
c.394C>A (p.Leu132Met)
c.285-15883G>T (n.285-15883G>T)
c.266-423C>A (n.266-423C>A)
c.274C>A (p.Leu92Met)
n.2210C>A
c.563C>A
c.446C>A
16g.72060240C=CA2231555171HP,TXNL4Bc.571C= (p.Leu191=)
c.196C= (p.Leu66=)
c.679C= (p.Leu227=)
c.394C= (p.Leu132=)
c.285-15883G= (n.285-15883G=)
c.266-423C= (n.266-423C=)
c.274C= (p.Leu92=)
n.2210C=
c.563C=
c.446C=
16g.72060240C>GCA396676708HP,TXNL4Bc.571C>G (p.Leu191Val)
c.196C>G (p.Leu66Val)
c.679C>G (p.Leu227Val)
c.394C>G (p.Leu132Val)
c.285-15883G>C (n.285-15883G>C)
c.266-423C>G (n.266-423C>G)
c.274C>G (p.Leu92Val)
n.2210C>G
c.563C>G
c.446C>G
16g.72060240C>TCA496414598HP,TXNL4Bc.571C>T (p.Leu191=)
c.196C>T (p.Leu66=)
c.679C>T (p.Leu227=)
c.394C>T (p.Leu132=)
c.285-15883G>A (n.285-15883G>A)
c.266-423C>T (n.266-423C>T)
c.274C>T (p.Leu92=)
n.2210C>T
c.563C>T
c.446C>T
 dbSNP gnomAD v4
16g.72060241T>ACA396676715HP,TXNL4Bc.572T>A (p.Leu191Gln)
c.197T>A (p.Leu66Gln)
c.680T>A (p.Leu227Gln)
c.395T>A (p.Leu132Gln)
c.285-15884A>T (n.285-15884A>T)
c.266-422T>A (n.266-422T>A)
c.275T>A (p.Leu92Gln)
n.2211T>A
c.564T>A
c.447T>A
16g.72060241T>CCA396676717HP,TXNL4Bc.572T>C (p.Leu191Pro)
c.197T>C (p.Leu66Pro)
c.680T>C (p.Leu227Pro)
c.395T>C (p.Leu132Pro)
c.285-15884A>G (n.285-15884A>G)
c.266-422T>C (n.266-422T>C)
c.275T>C (p.Leu92Pro)
n.2211T>C
c.564T>C
c.447T>C
16g.72060241T>GCA396676719HP,TXNL4Bc.572T>G (p.Leu191Arg)
c.197T>G (p.Leu66Arg)
c.680T>G (p.Leu227Arg)
c.395T>G (p.Leu132Arg)
c.285-15884A>C (n.285-15884A>C)
c.266-422T>G (n.266-422T>G)
c.275T>G (p.Leu92Arg)
n.2211T>G
c.564T>G
c.447T>G
 gnomAD v4
16g.72060242G>ACA496414599HP,TXNL4Bc.573G>A (p.Leu191=)
c.198G>A (p.Leu66=)
c.681G>A (p.Leu227=)
c.396G>A (p.Leu132=)
c.285-15885C>T (n.285-15885C>T)
c.266-421G>A (n.266-421G>A)
c.276G>A (p.Leu92=)
n.2212G>A
c.565G>A
c.448G>A
 gnomAD v4
16g.72060242G>CCA496414600HP,TXNL4Bc.573G>C (p.Leu191=)
c.198G>C (p.Leu66=)
c.681G>C (p.Leu227=)
c.396G>C (p.Leu132=)
c.285-15885C>G (n.285-15885C>G)
c.266-421G>C (n.266-421G>C)
c.276G>C (p.Leu92=)
n.2212G>C
c.565G>C
c.448G>C
16g.72060242G>TCA496414601HP,TXNL4Bc.573G>T (p.Leu191=)
c.198G>T (p.Leu66=)
c.681G>T (p.Leu227=)
c.396G>T (p.Leu132=)
c.285-15885C>A (n.285-15885C>A)
c.266-421G>T (n.266-421G>T)
c.276G>T (p.Leu92=)
n.2212G>T
c.565G>T
c.448G>T
16g.72060243A>CCA396676722HP,TXNL4Bc.574A>C (p.Ile192Leu)
c.199A>C (p.Ile67Leu)
c.682A>C (p.Ile228Leu)
c.397A>C (p.Ile133Leu)
c.285-15886T>G (n.285-15886T>G)
c.266-420A>C (n.266-420A>C)
c.277A>C (p.Ile93Leu)
n.2213A>C
c.566A>C
c.449A>C
 gnomAD v4
16g.72060243A>GCA396676724HP,TXNL4Bc.574A>G (p.Ile192Val)
c.199A>G (p.Ile67Val)
c.682A>G (p.Ile228Val)
c.397A>G (p.Ile133Val)
c.285-15886T>C (n.285-15886T>C)
c.266-420A>G (n.266-420A>G)
c.277A>G (p.Ile93Val)
n.2213A>G
c.566A>G
c.449A>G
16g.72060243A>TCA396676727HP,TXNL4Bc.574A>T (p.Ile192Phe)
c.199A>T (p.Ile67Phe)
c.682A>T (p.Ile228Phe)
c.397A>T (p.Ile133Phe)
c.285-15886T>A (n.285-15886T>A)
c.266-420A>T (n.266-420A>T)
c.277A>T (p.Ile93Phe)
n.2213A>T
c.566A>T
c.449A>T
16g.72060244T>ACA396676732HP,TXNL4Bc.575T>A (p.Ile192Asn)
c.200T>A (p.Ile67Asn)
c.683T>A (p.Ile228Asn)
c.398T>A (p.Ile133Asn)
c.285-15887A>T (n.285-15887A>T)
c.266-419T>A (n.266-419T>A)
c.278T>A (p.Ile93Asn)
n.2214T>A
c.567T>A
c.450T>A
16g.72060244T>CCA396676736HP,TXNL4Bc.575T>C (p.Ile192Thr)
c.200T>C (p.Ile67Thr)
c.683T>C (p.Ile228Thr)
c.398T>C (p.Ile133Thr)
c.285-15887A>G (n.285-15887A>G)
c.266-419T>C (n.266-419T>C)
c.278T>C (p.Ile93Thr)
n.2214T>C
c.567T>C
c.450T>C
 dbSNP gnomAD v3 gnomAD v4
16g.72060244T>GCA396676738HP,TXNL4Bc.575T>G (p.Ile192Ser)
c.200T>G (p.Ile67Ser)
c.683T>G (p.Ile228Ser)
c.398T>G (p.Ile133Ser)
c.285-15887A>C (n.285-15887A>C)
c.266-419T>G (n.266-419T>G)
c.278T>G (p.Ile93Ser)
n.2214T>G
c.567T>G
c.450T>G
16g.72060244T=CA2231555172HP,TXNL4Bc.575T= (p.Ile192=)
c.200T= (p.Ile67=)
c.683T= (p.Ile228=)
c.398T= (p.Ile133=)
c.285-15887A= (n.285-15887A=)
c.266-419T= (n.266-419T=)
c.278T= (p.Ile93=)
n.2214T=
c.567T=
c.450T=
16g.72060245C>ACA496414602HP,TXNL4Bc.576C>A (p.Ile192=)
c.201C>A (p.Ile67=)
c.684C>A (p.Ile228=)
c.399C>A (p.Ile133=)
c.285-15888G>T (n.285-15888G>T)
c.266-418C>A (n.266-418C>A)
c.279C>A (p.Ile93=)
n.2215C>A
c.568C>A
c.451C>A
16g.72060245C>GCA396676745HP,TXNL4Bc.576C>G (p.Ile192Met)
c.201C>G (p.Ile67Met)
c.684C>G (p.Ile228Met)
c.399C>G (p.Ile133Met)
c.285-15888G>C (n.285-15888G>C)
c.266-418C>G (n.266-418C>G)
c.279C>G (p.Ile93Met)
n.2215C>G
c.568C>G
c.451C>G
16g.72060245C>TCA496414603HP,TXNL4Bc.576C>T (p.Ile192=)
c.201C>T (p.Ile67=)
c.684C>T (p.Ile228=)
c.399C>T (p.Ile133=)
c.285-15888G>A (n.285-15888G>A)
c.266-418C>T (n.266-418C>T)
c.279C>T (p.Ile93=)
n.2215C>T
c.568C>T
c.451C>T
16g.72060246A>CCA396676748HP,TXNL4Bc.577A>C (p.Asn193His)
c.202A>C (p.Asn68His)
c.685A>C (p.Asn229His)
c.400A>C (p.Asn134His)
c.285-15889T>G (n.285-15889T>G)
c.266-417A>C (n.266-417A>C)
c.280A>C (p.Asn94His)
n.2216A>C
c.569A>C
c.452A>C
16g.72060246A>GCA396676751HP,TXNL4Bc.577A>G (p.Asn193Asp)
c.202A>G (p.Asn68Asp)
c.685A>G (p.Asn229Asp)
c.400A>G (p.Asn134Asp)
c.285-15889T>C (n.285-15889T>C)
c.266-417A>G (n.266-417A>G)
c.280A>G (p.Asn94Asp)
n.2216A>G
c.569A>G
c.452A>G
16g.72060246A>TCA396676753HP,TXNL4Bc.577A>T (p.Asn193Tyr)
c.202A>T (p.Asn68Tyr)
c.685A>T (p.Asn229Tyr)
c.400A>T (p.Asn134Tyr)
c.285-15889T>A (n.285-15889T>A)
c.266-417A>T (n.266-417A>T)
c.280A>T (p.Asn94Tyr)
n.2216A>T
c.569A>T
c.452A>T
16g.72060247A=CA2231555173HP,TXNL4Bc.578A= (p.Asn193=)
c.203A= (p.Asn68=)
c.686A= (p.Asn229=)
c.401A= (p.Asn134=)
c.285-15890T= (n.285-15890T=)
c.266-416A= (n.266-416A=)
c.281A= (p.Asn94=)
n.2217A=
c.570A=
c.453A=
16g.72060247A>CCA396676760HP,TXNL4Bc.578A>C (p.Asn193Thr)
c.203A>C (p.Asn68Thr)
c.686A>C (p.Asn229Thr)
c.401A>C (p.Asn134Thr)
c.285-15890T>G (n.285-15890T>G)
c.266-416A>C (n.266-416A>C)
c.281A>C (p.Asn94Thr)
n.2217A>C
c.570A>C
c.453A>C
16g.72060247A>GCA8159141HP,TXNL4Bc.578A>G (p.Asn193Ser)
c.203A>G (p.Asn68Ser)
c.686A>G (p.Asn229Ser)
c.401A>G (p.Asn134Ser)
c.285-15890T>C (n.285-15890T>C)
c.266-416A>G (n.266-416A>G)
c.281A>G (p.Asn94Ser)
n.2217A>G
c.570A>G
c.453A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060247A>TCA396676758HP,TXNL4Bc.578A>T (p.Asn193Ile)
c.203A>T (p.Asn68Ile)
c.686A>T (p.Asn229Ile)
c.401A>T (p.Asn134Ile)
c.285-15890T>A (n.285-15890T>A)
c.266-416A>T (n.266-416A>T)
c.281A>T (p.Asn94Ile)
n.2217A>T
c.570A>T
c.453A>T
16g.72060248T>ACA396676763HP,TXNL4Bc.579T>A (p.Asn193Lys)
c.204T>A (p.Asn68Lys)
c.687T>A (p.Asn229Lys)
c.402T>A (p.Asn134Lys)
c.285-15891A>T (n.285-15891A>T)
c.266-415T>A (n.266-415T>A)
c.282T>A (p.Asn94Lys)
n.2218T>A
c.571T>A
c.454T>A
16g.72060248T>CCA496414605HP,TXNL4Bc.579T>C (p.Asn193=)
c.204T>C (p.Asn68=)
c.687T>C (p.Asn229=)
c.402T>C (p.Asn134=)
c.285-15891A>G (n.285-15891A>G)
c.266-415T>C (n.266-415T>C)
c.282T>C (p.Asn94=)
n.2218T>C
c.571T>C
c.454T>C
 dbSNP gnomAD v3 gnomAD v4
16g.72060248T>GCA396676765HP,TXNL4Bc.579T>G (p.Asn193Lys)
c.204T>G (p.Asn68Lys)
c.687T>G (p.Asn229Lys)
c.402T>G (p.Asn134Lys)
c.285-15891A>C (n.285-15891A>C)
c.266-415T>G (n.266-415T>G)
c.282T>G (p.Asn94Lys)
n.2218T>G
c.571T>G
c.454T>G
16g.72060248T=CA2231555174HP,TXNL4Bc.579T= (p.Asn193=)
c.204T= (p.Asn68=)
c.687T= (p.Asn229=)
c.402T= (p.Asn134=)
c.285-15891A= (n.285-15891A=)
c.266-415T= (n.266-415T=)
c.282T= (p.Asn94=)
n.2218T=
c.571T=
c.454T=
16g.72060249G>ACA396676767HP,TXNL4Bc.580G>A (p.Glu194Lys)
c.205G>A (p.Glu69Lys)
c.688G>A (p.Glu230Lys)
c.403G>A (p.Glu135Lys)
c.285-15892C>T (n.285-15892C>T)
c.266-414G>A (n.266-414G>A)
c.283G>A (p.Glu95Lys)
n.2219G>A
c.572G>A
c.455G>A
16g.72060249G>CCA396676768HP,TXNL4Bc.580G>C (p.Glu194Gln)
c.205G>C (p.Glu69Gln)
c.688G>C (p.Glu230Gln)
c.403G>C (p.Glu135Gln)
c.285-15892C>G (n.285-15892C>G)
c.266-414G>C (n.266-414G>C)
c.283G>C (p.Glu95Gln)
n.2219G>C
c.572G>C
c.455G>C
16g.72060249G>TCA396676770HP,TXNL4Bc.580G>T (p.Glu194Ter)
c.205G>T (p.Glu69Ter)
c.688G>T (p.Glu230Ter)
c.403G>T (p.Glu135Ter)
c.285-15892C>A (n.285-15892C>A)
c.266-414G>T (n.266-414G>T)
c.283G>T (p.Glu95Ter)
n.2219G>T
c.572G>T
c.455G>T
16g.72060250A>CCA396676773HP,TXNL4Bc.581A>C (p.Glu194Ala)
c.206A>C (p.Glu69Ala)
c.689A>C (p.Glu230Ala)
c.404A>C (p.Glu135Ala)
c.285-15893T>G (n.285-15893T>G)
c.266-413A>C (n.266-413A>C)
c.284A>C (p.Glu95Ala)
n.2220A>C
c.573A>C
c.456A>C
16g.72060250A>GCA396676774HP,TXNL4Bc.581A>G (p.Glu194Gly)
c.206A>G (p.Glu69Gly)
c.689A>G (p.Glu230Gly)
c.404A>G (p.Glu135Gly)
c.285-15893T>C (n.285-15893T>C)
c.266-413A>G (n.266-413A>G)
c.284A>G (p.Glu95Gly)
n.2220A>G
c.573A>G
c.456A>G
16g.72060250A>TCA396676777HP,TXNL4Bc.581A>T (p.Glu194Val)
c.206A>T (p.Glu69Val)
c.689A>T (p.Glu230Val)
c.404A>T (p.Glu135Val)
c.285-15893T>A (n.285-15893T>A)
c.266-413A>T (n.266-413A>T)
c.284A>T (p.Glu95Val)
n.2220A>T
c.573A>T
c.456A>T
16g.72060251A>CCA396676783HP,TXNL4Bc.582A>C (p.Glu194Asp)
c.207A>C (p.Glu69Asp)
c.690A>C (p.Glu230Asp)
c.405A>C (p.Glu135Asp)
c.285-15894T>G (n.285-15894T>G)
c.266-412A>C (n.266-412A>C)
c.285A>C (p.Glu95Asp)
n.2221A>C
c.574A>C
c.457A>C
16g.72060251A>GCA496414607HP,TXNL4Bc.582A>G (p.Glu194=)
c.207A>G (p.Glu69=)
c.690A>G (p.Glu230=)
c.405A>G (p.Glu135=)
c.285-15894T>C (n.285-15894T>C)
c.266-412A>G (n.266-412A>G)
c.285A>G (p.Glu95=)
n.2221A>G
c.574A>G
c.457A>G
16g.72060251A>TCA396676784HP,TXNL4Bc.582A>T (p.Glu194Asp)
c.207A>T (p.Glu69Asp)
c.690A>T (p.Glu230Asp)
c.405A>T (p.Glu135Asp)
c.285-15894T>A (n.285-15894T>A)
c.266-412A>T (n.266-412A>T)
c.285A>T (p.Glu95Asp)
n.2221A>T
c.574A>T
c.457A>T
16g.72060252C>ACA8159142HP,TXNL4Bc.583C>A (p.Gln195Lys)
c.208C>A (p.Gln70Lys)
c.691C>A (p.Gln231Lys)
c.406C>A (p.Gln136Lys)
c.285-15895G>T (n.285-15895G>T)
c.266-411C>A (n.266-411C>A)
c.286C>A (p.Gln96Lys)
n.2222C>A
c.575C>A
c.458C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060252C=CA2231555175HP,TXNL4Bc.583C= (p.Gln195=)
c.208C= (p.Gln70=)
c.691C= (p.Gln231=)
c.406C= (p.Gln136=)
c.285-15895G= (n.285-15895G=)
c.266-411C= (n.266-411C=)
c.286C= (p.Gln96=)
n.2222C=
c.575C=
c.458C=
16g.72060252C>GCA396676788HP,TXNL4Bc.583C>G (p.Gln195Glu)
c.208C>G (p.Gln70Glu)
c.691C>G (p.Gln231Glu)
c.406C>G (p.Gln136Glu)
c.285-15895G>C (n.285-15895G>C)
c.266-411C>G (n.266-411C>G)
c.286C>G (p.Gln96Glu)
n.2222C>G
c.575C>G
c.458C>G
16g.72060252C>TCA396676794HP,TXNL4Bc.583C>T (p.Gln195Ter)
c.208C>T (p.Gln70Ter)
c.691C>T (p.Gln231Ter)
c.406C>T (p.Gln136Ter)
c.285-15895G>A (n.285-15895G>A)
c.266-411C>T (n.266-411C>T)
c.286C>T (p.Gln96Ter)
n.2222C>T
c.575C>T
c.458C>T
16g.72060253A>CCA396676799HP,TXNL4Bc.584A>C (p.Gln195Pro)
c.209A>C (p.Gln70Pro)
c.692A>C (p.Gln231Pro)
c.407A>C (p.Gln136Pro)
c.285-15896T>G (n.285-15896T>G)
c.266-410A>C (n.266-410A>C)
c.287A>C (p.Gln96Pro)
n.2223A>C
c.576A>C
c.459A>C
16g.72060253A>GCA396676802HP,TXNL4Bc.584A>G (p.Gln195Arg)
c.209A>G (p.Gln70Arg)
c.692A>G (p.Gln231Arg)
c.407A>G (p.Gln136Arg)
c.285-15896T>C (n.285-15896T>C)
c.266-410A>G (n.266-410A>G)
c.287A>G (p.Gln96Arg)
n.2223A>G
c.576A>G
c.459A>G
16g.72060253A>TCA396676798HP,TXNL4Bc.584A>T (p.Gln195Leu)
c.209A>T (p.Gln70Leu)
c.692A>T (p.Gln231Leu)
c.407A>T (p.Gln136Leu)
c.285-15896T>A (n.285-15896T>A)
c.266-410A>T (n.266-410A>T)
c.287A>T (p.Gln96Leu)
n.2223A>T
c.576A>T
c.459A>T
16g.72060254A>CCA396676808HP,TXNL4Bc.585A>C (p.Gln195His)
c.210A>C (p.Gln70His)
c.693A>C (p.Gln231His)
c.408A>C (p.Gln136His)
c.285-15897T>G (n.285-15897T>G)
c.266-409A>C (n.266-409A>C)
c.288A>C (p.Gln96His)
n.2224A>C
c.577A>C
c.460A>C
16g.72060254A>GCA496414612HP,TXNL4Bc.585A>G (p.Gln195=)
c.210A>G (p.Gln70=)
c.693A>G (p.Gln231=)
c.408A>G (p.Gln136=)
c.285-15897T>C (n.285-15897T>C)
c.266-409A>G (n.266-409A>G)
c.288A>G (p.Gln96=)
n.2224A>G
c.577A>G
c.460A>G
16g.72060254A>TCA396676806HP,TXNL4Bc.585A>T (p.Gln195His)
c.210A>T (p.Gln70His)
c.693A>T (p.Gln231His)
c.408A>T (p.Gln136His)
c.285-15897T>A (n.285-15897T>A)
c.266-409A>T (n.266-409A>T)
c.288A>T (p.Gln96His)
n.2224A>T
c.577A>T
c.460A>T
16g.72060255T>ACA396676812HP,TXNL4Bc.586T>A (p.Trp196Arg)
c.211T>A (p.Trp71Arg)
c.694T>A (p.Trp232Arg)
c.409T>A (p.Trp137Arg)
c.285-15898A>T (n.285-15898A>T)
c.266-408T>A (n.266-408T>A)
c.289T>A (p.Trp97Arg)
n.2225T>A
c.578T>A
c.461T>A
 COSMIC
16g.72060255T>CCA396676810HP,TXNL4Bc.586T>C (p.Trp196Arg)
c.211T>C (p.Trp71Arg)
c.694T>C (p.Trp232Arg)
c.409T>C (p.Trp137Arg)
c.285-15898A>G (n.285-15898A>G)
c.266-408T>C (n.266-408T>C)
c.289T>C (p.Trp97Arg)
n.2225T>C
c.578T>C
c.461T>C
16g.72060255T>GCA396676814HP,TXNL4Bc.586T>G (p.Trp196Gly)
c.211T>G (p.Trp71Gly)
c.694T>G (p.Trp232Gly)
c.409T>G (p.Trp137Gly)
c.285-15898A>C (n.285-15898A>C)
c.266-408T>G (n.266-408T>G)
c.289T>G (p.Trp97Gly)
n.2225T>G
c.578T>G
c.461T>G
16g.72060256G>ACA396676818HP,TXNL4Bc.587G>A (p.Trp196Ter)
c.212G>A (p.Trp71Ter)
c.695G>A (p.Trp232Ter)
c.410G>A (p.Trp137Ter)
c.285-15899C>T (n.285-15899C>T)
c.266-407G>A (n.266-407G>A)
c.290G>A (p.Trp97Ter)
n.2226G>A
c.579G>A
c.462G>A
16g.72060256G>CCA396676822HP,TXNL4Bc.587G>C (p.Trp196Ser)
c.212G>C (p.Trp71Ser)
c.695G>C (p.Trp232Ser)
c.410G>C (p.Trp137Ser)
c.285-15899C>G (n.285-15899C>G)
c.266-407G>C (n.266-407G>C)
c.290G>C (p.Trp97Ser)
n.2226G>C
c.579G>C
c.462G>C
16g.72060256G>TCA396676820HP,TXNL4Bc.587G>T (p.Trp196Leu)
c.212G>T (p.Trp71Leu)
c.695G>T (p.Trp232Leu)
c.410G>T (p.Trp137Leu)
c.285-15899C>A (n.285-15899C>A)
c.266-407G>T (n.266-407G>T)
c.290G>T (p.Trp97Leu)
n.2226G>T
c.579G>T
c.462G>T
16g.72060257G>ACA396676825HP,TXNL4Bc.588G>A (p.Trp196Ter)
c.213G>A (p.Trp71Ter)
c.696G>A (p.Trp232Ter)
c.411G>A (p.Trp137Ter)
c.285-15900C>T (n.285-15900C>T)
c.266-406G>A (n.266-406G>A)
c.291G>A (p.Trp97Ter)
n.2227G>A
c.580G>A
c.463G>A
16g.72060257G>CCA396676829HP,TXNL4Bc.588G>C (p.Trp196Cys)
c.213G>C (p.Trp71Cys)
c.696G>C (p.Trp232Cys)
c.411G>C (p.Trp137Cys)
c.285-15900C>G (n.285-15900C>G)
c.266-406G>C (n.266-406G>C)
c.291G>C (p.Trp97Cys)
n.2227G>C
c.580G>C
c.463G>C
16g.72060257G>TCA396676828HP,TXNL4Bc.588G>T (p.Trp196Cys)
c.213G>T (p.Trp71Cys)
c.696G>T (p.Trp232Cys)
c.411G>T (p.Trp137Cys)
c.285-15900C>A (n.285-15900C>A)
c.266-406G>T (n.266-406G>T)
c.291G>T (p.Trp97Cys)
n.2227G>T
c.580G>T
c.463G>T
16g.72060261_72060263dupCA2732767382HP,TXNL4Bc.592_594dup (p.Leu198_Thr199insLeu)
c.217_219dup (p.Leu73_Thr74insLeu)
c.700_702dup (p.Leu234_Thr235insLeu)
c.415_417dup (p.Leu139_Thr140insLeu)
c.285-15902_285-15900dup (n.285-15902_285-15900dup)
c.266-402_266-400dup (n.266-402_266-400dup)
c.295_297dup (p.Leu99_Thr100insLeu)
n.2231_2233dup
c.584_586dup
c.467_469dup
 dbSNP
16g.72060258C>ACA396676832HP,TXNL4Bc.589C>A (p.Leu197Met)
c.214C>A (p.Leu72Met)
c.697C>A (p.Leu233Met)
c.412C>A (p.Leu138Met)
c.285-15901G>T (n.285-15901G>T)
c.266-405C>A (n.266-405C>A)
c.292C>A (p.Leu98Met)
n.2228C>A
c.581C>A
c.464C>A
16g.72060258C>GCA396676833HP,TXNL4Bc.589C>G (p.Leu197Val)
c.214C>G (p.Leu72Val)
c.697C>G (p.Leu233Val)
c.412C>G (p.Leu138Val)
c.285-15901G>C (n.285-15901G>C)
c.266-405C>G (n.266-405C>G)
c.292C>G (p.Leu98Val)
n.2228C>G
c.581C>G
c.464C>G
16g.72060258C>TCA496414614HP,TXNL4Bc.589C>T (p.Leu197=)
c.214C>T (p.Leu72=)
c.697C>T (p.Leu233=)
c.412C>T (p.Leu138=)
c.285-15901G>A (n.285-15901G>A)
c.266-405C>T (n.266-405C>T)
c.292C>T (p.Leu98=)
n.2228C>T
c.581C>T
c.464C>T
16g.72060259T>ACA396676834HP,TXNL4Bc.590T>A (p.Leu197Gln)
c.215T>A (p.Leu72Gln)
c.698T>A (p.Leu233Gln)
c.413T>A (p.Leu138Gln)
c.285-15902A>T (n.285-15902A>T)
c.266-404T>A (n.266-404T>A)
c.293T>A (p.Leu98Gln)
n.2229T>A
c.582T>A
c.465T>A
16g.72060259T>CCA396676835HP,TXNL4Bc.590T>C (p.Leu197Pro)
c.215T>C (p.Leu72Pro)
c.698T>C (p.Leu233Pro)
c.413T>C (p.Leu138Pro)
c.285-15902A>G (n.285-15902A>G)
c.266-404T>C (n.266-404T>C)
c.293T>C (p.Leu98Pro)
n.2229T>C
c.582T>C
c.465T>C
16g.72060259T>GCA396676838HP,TXNL4Bc.590T>G (p.Leu197Arg)
c.215T>G (p.Leu72Arg)
c.698T>G (p.Leu233Arg)
c.413T>G (p.Leu138Arg)
c.285-15902A>C (n.285-15902A>C)
c.266-404T>G (n.266-404T>G)
c.293T>G (p.Leu98Arg)
n.2229T>G
c.582T>G
c.465T>G
16g.72060260G>ACA283640730HP,TXNL4Bc.591G>A (p.Leu197=)
c.216G>A (p.Leu72=)
c.699G>A (p.Leu233=)
c.414G>A (p.Leu138=)
c.285-15903C>T (n.285-15903C>T)
c.266-403G>A (n.266-403G>A)
c.294G>A (p.Leu98=)
n.2230G>A
c.583G>A
c.466G>A
 dbSNP
16g.72060260G>CCA496414619HP,TXNL4Bc.591G>C (p.Leu197=)
c.216G>C (p.Leu72=)
c.699G>C (p.Leu233=)
c.414G>C (p.Leu138=)
c.285-15903C>G (n.285-15903C>G)
c.266-403G>C (n.266-403G>C)
c.294G>C (p.Leu98=)
n.2230G>C
c.583G>C
c.466G>C
16g.72060260G=CA2231555176HP,TXNL4Bc.591G= (p.Leu197=)
c.216G= (p.Leu72=)
c.699G= (p.Leu233=)
c.414G= (p.Leu138=)
c.285-15903C= (n.285-15903C=)
c.266-403G= (n.266-403G=)
c.294G= (p.Leu98=)
n.2230G=
c.583G=
c.466G=
16g.72060260G>TCA496414621HP,TXNL4Bc.591G>T (p.Leu197=)
c.216G>T (p.Leu72=)
c.699G>T (p.Leu233=)
c.414G>T (p.Leu138=)
c.285-15903C>A (n.285-15903C>A)
c.266-403G>T (n.266-403G>T)
c.294G>T (p.Leu98=)
n.2230G>T
c.583G>T
c.466G>T
16g.72060261delCA2634177602HP,TXNL4Bc.592del (p.Leu198Ter)
c.217del (p.Leu73Ter)
c.700del (p.Leu234Ter)
c.415del (p.Leu139Ter)
c.285-15904del (n.285-15904del)
c.266-402del (n.266-402del)
c.295del (p.Leu99Ter)
n.2231del
c.584del
c.467del
 gnomAD v4
16g.72060261C>ACA396676840HP,TXNL4Bc.592C>A (p.Leu198Met)
c.217C>A (p.Leu73Met)
c.700C>A (p.Leu234Met)
c.415C>A (p.Leu139Met)
c.285-15904G>T (n.285-15904G>T)
c.266-402C>A (n.266-402C>A)
c.295C>A (p.Leu99Met)
n.2231C>A
c.584C>A
c.467C>A
16g.72060261C>GCA396676842HP,TXNL4Bc.592C>G (p.Leu198Val)
c.217C>G (p.Leu73Val)
c.700C>G (p.Leu234Val)
c.415C>G (p.Leu139Val)
c.285-15904G>C (n.285-15904G>C)
c.266-402C>G (n.266-402C>G)
c.295C>G (p.Leu99Val)
n.2231C>G
c.584C>G
c.467C>G
16g.72060261C>TCA496414622HP,TXNL4Bc.592C>T (p.Leu198=)
c.217C>T (p.Leu73=)
c.700C>T (p.Leu234=)
c.415C>T (p.Leu139=)
c.285-15904G>A (n.285-15904G>A)
c.266-402C>T (n.266-402C>T)
c.295C>T (p.Leu99=)
n.2231C>T
c.584C>T
c.467C>T
16g.72060262T>ACA396676845HP,TXNL4Bc.593T>A (p.Leu198Gln)
c.218T>A (p.Leu73Gln)
c.701T>A (p.Leu234Gln)
c.416T>A (p.Leu139Gln)
c.285-15905A>T (n.285-15905A>T)
c.266-401T>A (n.266-401T>A)
c.296T>A (p.Leu99Gln)
n.2232T>A
c.585T>A
c.468T>A
16g.72060262T>CCA396676851HP,TXNL4Bc.593T>C (p.Leu198Pro)
c.218T>C (p.Leu73Pro)
c.701T>C (p.Leu234Pro)
c.416T>C (p.Leu139Pro)
c.285-15905A>G (n.285-15905A>G)
c.266-401T>C (n.266-401T>C)
c.296T>C (p.Leu99Pro)
n.2232T>C
c.585T>C
c.468T>C
16g.72060262T>GCA396676852HP,TXNL4Bc.593T>G (p.Leu198Arg)
c.218T>G (p.Leu73Arg)
c.701T>G (p.Leu234Arg)
c.416T>G (p.Leu139Arg)
c.285-15905A>C (n.285-15905A>C)
c.266-401T>G (n.266-401T>G)
c.296T>G (p.Leu99Arg)
n.2232T>G
c.585T>G
c.468T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.72060262T=CA2231555177HP,TXNL4Bc.593T= (p.Leu198=)
c.218T= (p.Leu73=)
c.701T= (p.Leu234=)
c.416T= (p.Leu139=)
c.285-15905A= (n.285-15905A=)
c.266-401T= (n.266-401T=)
c.296T= (p.Leu99=)
n.2232T=
c.585T=
c.468T=
16g.72060263G>ACA496414624HP,TXNL4Bc.594G>A (p.Leu198=)
c.219G>A (p.Leu73=)
c.702G>A (p.Leu234=)
c.417G>A (p.Leu139=)
c.285-15906C>T (n.285-15906C>T)
c.266-400G>A (n.266-400G>A)
c.297G>A (p.Leu99=)
n.2233G>A
c.586G>A
c.469G>A
16g.72060263G>CCA496414625HP,TXNL4Bc.594G>C (p.Leu198=)
c.219G>C (p.Leu73=)
c.702G>C (p.Leu234=)
c.417G>C (p.Leu139=)
c.285-15906C>G (n.285-15906C>G)
c.266-400G>C (n.266-400G>C)
c.297G>C (p.Leu99=)
n.2233G>C
c.586G>C
c.469G>C
 dbSNP gnomAD v2 gnomAD v4
16g.72060263G=CA2231555178HP,TXNL4Bc.594G= (p.Leu198=)
c.219G= (p.Leu73=)
c.702G= (p.Leu234=)
c.417G= (p.Leu139=)
c.285-15906C= (n.285-15906C=)
c.266-400G= (n.266-400G=)
c.297G= (p.Leu99=)
n.2233G=
c.586G=
c.469G=
16g.72060263G>TCA496414626HP,TXNL4Bc.594G>T (p.Leu198=)
c.219G>T (p.Leu73=)
c.702G>T (p.Leu234=)
c.417G>T (p.Leu139=)
c.285-15906C>A (n.285-15906C>A)
c.266-400G>T (n.266-400G>T)
c.297G>T (p.Leu99=)
n.2233G>T
c.586G>T
c.469G>T
16g.72060264A=CA2231555179HP,TXNL4Bc.595A= (p.Thr199=)
c.220A= (p.Thr74=)
c.703A= (p.Thr235=)
c.418A= (p.Thr140=)
c.285-15907T= (n.285-15907T=)
c.266-399A= (n.266-399A=)
c.298A= (p.Thr100=)
n.2234A=
c.587A=
c.470A=
16g.72060264A>CCA396676856HP,TXNL4Bc.595A>C (p.Thr199Pro)
c.220A>C (p.Thr74Pro)
c.703A>C (p.Thr235Pro)
c.418A>C (p.Thr140Pro)
c.285-15907T>G (n.285-15907T>G)
c.266-399A>C (n.266-399A>C)
c.298A>C (p.Thr100Pro)
n.2234A>C
c.587A>C
c.470A>C
16g.72060264A>GCA396676860HP,TXNL4Bc.595A>G (p.Thr199Ala)
c.220A>G (p.Thr74Ala)
c.703A>G (p.Thr235Ala)
c.418A>G (p.Thr140Ala)
c.285-15907T>C (n.285-15907T>C)
c.266-399A>G (n.266-399A>G)
c.298A>G (p.Thr100Ala)
n.2234A>G
c.587A>G
c.470A>G
16g.72060264A>TCA283640732HP,TXNL4Bc.595A>T (p.Thr199Ser)
c.220A>T (p.Thr74Ser)
c.703A>T (p.Thr235Ser)
c.418A>T (p.Thr140Ser)
c.285-15907T>A (n.285-15907T>A)
c.266-399A>T (n.266-399A>T)
c.298A>T (p.Thr100Ser)
n.2234A>T
c.587A>T
c.470A>T
 dbSNP gnomAD v4
16g.72060265C>ACA396676881HP,TXNL4Bc.596C>A (p.Thr199Asn)
c.221C>A (p.Thr74Asn)
c.704C>A (p.Thr235Asn)
c.419C>A (p.Thr140Asn)
c.285-15908G>T (n.285-15908G>T)
c.266-398C>A (n.266-398C>A)
c.299C>A (p.Thr100Asn)
n.2235C>A
c.588C>A
c.471C>A
16g.72060265C>GCA396676884HP,TXNL4Bc.596C>G (p.Thr199Ser)
c.221C>G (p.Thr74Ser)
c.704C>G (p.Thr235Ser)
c.419C>G (p.Thr140Ser)
c.285-15908G>C (n.285-15908G>C)
c.266-398C>G (n.266-398C>G)
c.299C>G (p.Thr100Ser)
n.2235C>G
c.588C>G
c.471C>G
16g.72060265C>TCA396676888HP,TXNL4Bc.596C>T (p.Thr199Ile)
c.221C>T (p.Thr74Ile)
c.704C>T (p.Thr235Ile)
c.419C>T (p.Thr140Ile)
c.285-15908G>A (n.285-15908G>A)
c.266-398C>T (n.266-398C>T)
c.299C>T (p.Thr100Ile)
n.2235C>T
c.588C>T
c.471C>T
16g.72060266C>ACA496414630HP,TXNL4Bc.597C>A (p.Thr199=)
c.222C>A (p.Thr74=)
c.705C>A (p.Thr235=)
c.420C>A (p.Thr140=)
c.285-15909G>T (n.285-15909G>T)
c.266-397C>A (n.266-397C>A)
c.300C>A (p.Thr100=)
n.2236C>A
c.589C>A
c.472C>A
 dbSNP gnomAD v2
16g.72060266C=CA2231555180HP,TXNL4Bc.597C= (p.Thr199=)
c.222C= (p.Thr74=)
c.705C= (p.Thr235=)
c.420C= (p.Thr140=)
c.285-15909G= (n.285-15909G=)
c.266-397C= (n.266-397C=)
c.300C= (p.Thr100=)
n.2236C=
c.589C=
c.472C=
16g.72060266C>GCA496414632HP,TXNL4Bc.597C>G (p.Thr199=)
c.222C>G (p.Thr74=)
c.705C>G (p.Thr235=)
c.420C>G (p.Thr140=)
c.285-15909G>C (n.285-15909G>C)
c.266-397C>G (n.266-397C>G)
c.300C>G (p.Thr100=)
n.2236C>G
c.589C>G
c.472C>G
16g.72060266C>TCA8159143HP,TXNL4Bc.597C>T (p.Thr199=)
c.222C>T (p.Thr74=)
c.705C>T (p.Thr235=)
c.420C>T (p.Thr140=)
c.285-15909G>A (n.285-15909G>A)
c.266-397C>T (n.266-397C>T)
c.300C>T (p.Thr100=)
n.2236C>T
c.589C>T
c.472C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060267A>CCA396676893HP,TXNL4Bc.598A>C (p.Thr200Pro)
c.223A>C (p.Thr75Pro)
c.706A>C (p.Thr236Pro)
c.421A>C (p.Thr141Pro)
c.285-15910T>G (n.285-15910T>G)
c.266-396A>C (n.266-396A>C)
c.301A>C (p.Thr101Pro)
n.2237A>C
c.590A>C
c.473A>C
16g.72060267A>GCA396676895HP,TXNL4Bc.598A>G (p.Thr200Ala)
c.223A>G (p.Thr75Ala)
c.706A>G (p.Thr236Ala)
c.421A>G (p.Thr141Ala)
c.285-15910T>C (n.285-15910T>C)
c.266-396A>G (n.266-396A>G)
c.301A>G (p.Thr101Ala)
n.2237A>G
c.590A>G
c.473A>G
16g.72060267A>TCA396676897HP,TXNL4Bc.598A>T (p.Thr200Ser)
c.223A>T (p.Thr75Ser)
c.706A>T (p.Thr236Ser)
c.421A>T (p.Thr141Ser)
c.285-15910T>A (n.285-15910T>A)
c.266-396A>T (n.266-396A>T)
c.301A>T (p.Thr101Ser)
n.2237A>T
c.590A>T
c.473A>T
16g.72060268C>ACA396676898HP,TXNL4Bc.599C>A (p.Thr200Lys)
c.224C>A (p.Thr75Lys)
c.707C>A (p.Thr236Lys)
c.422C>A (p.Thr141Lys)
c.285-15911G>T (n.285-15911G>T)
c.266-395C>A (n.266-395C>A)
c.302C>A (p.Thr101Lys)
n.2238C>A
c.591C>A
c.474C>A
16g.72060268C=CA2231555181HP,TXNL4Bc.599C= (p.Thr200=)
c.224C= (p.Thr75=)
c.707C= (p.Thr236=)
c.422C= (p.Thr141=)
c.285-15911G= (n.285-15911G=)
c.266-395C= (n.266-395C=)
c.302C= (p.Thr101=)
n.2238C=
c.591C=
c.474C=
16g.72060268C>GCA396676901HP,TXNL4Bc.599C>G (p.Thr200Arg)
c.224C>G (p.Thr75Arg)
c.707C>G (p.Thr236Arg)
c.422C>G (p.Thr141Arg)
c.285-15911G>C (n.285-15911G>C)
c.266-395C>G (n.266-395C>G)
c.302C>G (p.Thr101Arg)
n.2238C>G
c.591C>G
c.474C>G
 dbSNP gnomAD v3 gnomAD v4
16g.72060268C>TCA8159144HP,TXNL4Bc.599C>T (p.Thr200Met)
c.224C>T (p.Thr75Met)
c.707C>T (p.Thr236Met)
c.422C>T (p.Thr141Met)
c.285-15911G>A (n.285-15911G>A)
c.266-395C>T (n.266-395C>T)
c.302C>T (p.Thr101Met)
n.2238C>T
c.591C>T
c.474C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.72060269G>ACA8159145HP,TXNL4Bc.600G>A (p.Thr200=)
c.225G>A (p.Thr75=)
c.708G>A (p.Thr236=)
c.423G>A (p.Thr141=)
c.285-15912C>T (n.285-15912C>T)
c.266-394G>A (n.266-394G>A)
c.303G>A (p.Thr101=)
n.2239G>A
c.592G>A
c.475G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060269G>CCA496414638HP,TXNL4Bc.600G>C (p.Thr200=)
c.225G>C (p.Thr75=)
c.708G>C (p.Thr236=)
c.423G>C (p.Thr141=)
c.285-15912C>G (n.285-15912C>G)
c.266-394G>C (n.266-394G>C)
c.303G>C (p.Thr101=)
n.2239G>C
c.592G>C
c.475G>C
 gnomAD v4
16g.72060269G=CA2231555182HP,TXNL4Bc.600G= (p.Thr200=)
c.225G= (p.Thr75=)
c.708G= (p.Thr236=)
c.423G= (p.Thr141=)
c.285-15912C= (n.285-15912C=)
c.266-394G= (n.266-394G=)
c.303G= (p.Thr101=)
n.2239G=
c.592G=
c.475G=
16g.72060269G>TCA496414639HP,TXNL4Bc.600G>T (p.Thr200=)
c.225G>T (p.Thr75=)
c.708G>T (p.Thr236=)
c.423G>T (p.Thr141=)
c.285-15912C>A (n.285-15912C>A)
c.266-394G>T (n.266-394G>T)
c.303G>T (p.Thr101=)
n.2239G>T
c.592G>T
c.475G>T
 gnomAD v4
16g.72060270delCA2807567045HP,TXNL4Bc.601del (p.Ala201LeufsTer6)
c.226del (p.Ala76LeufsTer6)
c.709del (p.Ala237LeufsTer6)
c.424del (p.Ala142LeufsTer6)
c.285-15912del (n.285-15912del)
c.266-393del (n.266-393del)
c.304del (p.Ala102LeufsTer6)
n.2240del
c.593del
c.476del
16g.72060270G>ACA396676904HP,TXNL4Bc.601G>A (p.Ala201Thr)
c.226G>A (p.Ala76Thr)
c.709G>A (p.Ala237Thr)
c.424G>A (p.Ala142Thr)
c.285-15913C>T (n.285-15913C>T)
c.266-393G>A (n.266-393G>A)
c.304G>A (p.Ala102Thr)
n.2240G>A
c.593G>A
c.476G>A
 gnomAD v4
16g.72060270G>CCA396676905HP,TXNL4Bc.601G>C (p.Ala201Pro)
c.226G>C (p.Ala76Pro)
c.709G>C (p.Ala237Pro)
c.424G>C (p.Ala142Pro)
c.285-15913C>G (n.285-15913C>G)
c.266-393G>C (n.266-393G>C)
c.304G>C (p.Ala102Pro)
n.2240G>C
c.593G>C
c.476G>C
16g.72060270G>TCA396676906HP,TXNL4Bc.601G>T (p.Ala201Ser)
c.226G>T (p.Ala76Ser)
c.709G>T (p.Ala237Ser)
c.424G>T (p.Ala142Ser)
c.285-15913C>A (n.285-15913C>A)
c.266-393G>T (n.266-393G>T)
c.304G>T (p.Ala102Ser)
n.2240G>T
c.593G>T
c.476G>T
16g.72060271C>ACA396676909HP,TXNL4Bc.602C>A (p.Ala201Asp)
c.227C>A (p.Ala76Asp)
c.710C>A (p.Ala237Asp)
c.425C>A (p.Ala142Asp)
c.285-15914G>T (n.285-15914G>T)
c.266-392C>A (n.266-392C>A)
c.305C>A (p.Ala102Asp)
n.2241C>A
c.594C>A
c.477C>A
16g.72060271C=CA2231555183HP,TXNL4Bc.602C= (p.Ala201=)
c.227C= (p.Ala76=)
c.710C= (p.Ala237=)
c.425C= (p.Ala142=)
c.285-15914G= (n.285-15914G=)
c.266-392C= (n.266-392C=)
c.305C= (p.Ala102=)
n.2241C=
c.594C=
c.477C=
16g.72060271C>GCA396676911HP,TXNL4Bc.602C>G (p.Ala201Gly)
c.227C>G (p.Ala76Gly)
c.710C>G (p.Ala237Gly)
c.425C>G (p.Ala142Gly)
c.285-15914G>C (n.285-15914G>C)
c.266-392C>G (n.266-392C>G)
c.305C>G (p.Ala102Gly)
n.2241C>G
c.594C>G
c.477C>G
16g.72060271C>TCA8159146HP,TXNL4Bc.602C>T (p.Ala201Val)
c.227C>T (p.Ala76Val)
c.710C>T (p.Ala237Val)
c.425C>T (p.Ala142Val)
c.285-15914G>A (n.285-15914G>A)
c.266-392C>T (n.266-392C>T)
c.305C>T (p.Ala102Val)
n.2241C>T
c.594C>T
c.477C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060272T>ACA496414641HP,TXNL4Bc.603T>A (p.Ala201=)
c.228T>A (p.Ala76=)
c.711T>A (p.Ala237=)
c.426T>A (p.Ala142=)
c.285-15915A>T (n.285-15915A>T)
c.266-391T>A (n.266-391T>A)
c.306T>A (p.Ala102=)
n.2242T>A
c.595T>A
c.478T>A
16g.72060272T>CCA496414643HP,TXNL4Bc.603T>C (p.Ala201=)
c.228T>C (p.Ala76=)
c.711T>C (p.Ala237=)
c.426T>C (p.Ala142=)
c.285-15915A>G (n.285-15915A>G)
c.266-391T>C (n.266-391T>C)
c.306T>C (p.Ala102=)
n.2242T>C
c.595T>C
c.478T>C
 gnomAD v4
16g.72060272T>GCA496414644HP,TXNL4Bc.603T>G (p.Ala201=)
c.228T>G (p.Ala76=)
c.711T>G (p.Ala237=)
c.426T>G (p.Ala142=)
c.285-15915A>C (n.285-15915A>C)
c.266-391T>G (n.266-391T>G)
c.306T>G (p.Ala102=)
n.2242T>G
c.595T>G
c.478T>G
16g.72060273A=CA2231555184HP,TXNL4Bc.604A= (p.Lys202=)
c.229A= (p.Lys77=)
c.712A= (p.Lys238=)
c.427A= (p.Lys143=)
c.285-15916T= (n.285-15916T=)
c.266-390A= (n.266-390A=)
c.307A= (p.Lys103=)
n.2243A=
c.596A=
c.479A=
16g.72060273A>CCA8159147HP,TXNL4Bc.604A>C (p.Lys202Gln)
c.229A>C (p.Lys77Gln)
c.712A>C (p.Lys238Gln)
c.427A>C (p.Lys143Gln)
c.285-15916T>G (n.285-15916T>G)
c.266-390A>C (n.266-390A>C)
c.307A>C (p.Lys103Gln)
n.2243A>C
c.596A>C
c.479A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060273A>GCA396676917HP,TXNL4Bc.604A>G (p.Lys202Glu)
c.229A>G (p.Lys77Glu)
c.712A>G (p.Lys238Glu)
c.427A>G (p.Lys143Glu)
c.285-15916T>C (n.285-15916T>C)
c.266-390A>G (n.266-390A>G)
c.307A>G (p.Lys103Glu)
n.2243A>G
c.596A>G
c.479A>G
16g.72060273A>TCA396676916HP,TXNL4Bc.604A>T (p.Lys202Ter)
c.229A>T (p.Lys77Ter)
c.712A>T (p.Lys238Ter)
c.427A>T (p.Lys143Ter)
c.285-15916T>A (n.285-15916T>A)
c.266-390A>T (n.266-390A>T)
c.307A>T (p.Lys103Ter)
n.2243A>T
c.596A>T
c.479A>T
16g.72060274A=CA2231555185HP,TXNL4Bc.605A= (p.Lys202=)
c.230A= (p.Lys77=)
c.713A= (p.Lys238=)
c.428A= (p.Lys143=)
c.285-15917T= (n.285-15917T=)
c.266-389A= (n.266-389A=)
c.308A= (p.Lys103=)
n.2244A=
c.597A=
c.480A=
16g.72060274A>CCA396676920HP,TXNL4Bc.605A>C (p.Lys202Thr)
c.230A>C (p.Lys77Thr)
c.713A>C (p.Lys238Thr)
c.428A>C (p.Lys143Thr)
c.285-15917T>G (n.285-15917T>G)
c.266-389A>C (n.266-389A>C)
c.308A>C (p.Lys103Thr)
n.2244A>C
c.597A>C
c.480A>C
16g.72060274A>GCA396676922HP,TXNL4Bc.605A>G (p.Lys202Arg)
c.230A>G (p.Lys77Arg)
c.713A>G (p.Lys238Arg)
c.428A>G (p.Lys143Arg)
c.285-15917T>C (n.285-15917T>C)
c.266-389A>G (n.266-389A>G)
c.308A>G (p.Lys103Arg)
n.2244A>G
c.597A>G
c.480A>G
 dbSNP
16g.72060274A>TCA396676923HP,TXNL4Bc.605A>T (p.Lys202Ile)
c.230A>T (p.Lys77Ile)
c.713A>T (p.Lys238Ile)
c.428A>T (p.Lys143Ile)
c.285-15917T>A (n.285-15917T>A)
c.266-389A>T (n.266-389A>T)
c.308A>T (p.Lys103Ile)
n.2244A>T
c.597A>T
c.480A>T
16g.72060275A=CA2231555186HP,TXNL4Bc.606A= (p.Lys202=)
c.231A= (p.Lys77=)
c.714A= (p.Lys238=)
c.429A= (p.Lys143=)
c.285-15918T= (n.285-15918T=)
c.266-388A= (n.266-388A=)
c.309A= (p.Lys103=)
n.2245A=
c.598A=
c.481A=
16g.72060275A>CCA396676927HP,TXNL4Bc.606A>C (p.Lys202Asn)
c.231A>C (p.Lys77Asn)
c.714A>C (p.Lys238Asn)
c.429A>C (p.Lys143Asn)
c.285-15918T>G (n.285-15918T>G)
c.266-388A>C (n.266-388A>C)
c.309A>C (p.Lys103Asn)
n.2245A>C
c.598A>C
c.481A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.72060275A>GCA283640749HP,TXNL4Bc.606A>G (p.Lys202=)
c.231A>G (p.Lys77=)
c.714A>G (p.Lys238=)
c.429A>G (p.Lys143=)
c.285-15918T>C (n.285-15918T>C)
c.266-388A>G (n.266-388A>G)
c.309A>G (p.Lys103=)
n.2245A>G
c.598A>G
c.481A>G
 dbSNP
16g.72060275A>TCA396676931HP,TXNL4Bc.606A>T (p.Lys202Asn)
c.231A>T (p.Lys77Asn)
c.714A>T (p.Lys238Asn)
c.429A>T (p.Lys143Asn)
c.285-15918T>A (n.285-15918T>A)
c.266-388A>T (n.266-388A>T)
c.309A>T (p.Lys103Asn)
n.2245A>T
c.598A>T
c.481A>T
16g.72060276A>CCA396676935HP,TXNL4Bc.607A>C (p.Asn203His)
c.232A>C (p.Asn78His)
c.715A>C (p.Asn239His)
c.430A>C (p.Asn144His)
c.285-15919T>G (n.285-15919T>G)
c.266-387A>C (n.266-387A>C)
c.310A>C (p.Asn104His)
n.2246A>C
c.599A>C
c.482A>C
16g.72060276A>GCA396676937HP,TXNL4Bc.607A>G (p.Asn203Asp)
c.232A>G (p.Asn78Asp)
c.715A>G (p.Asn239Asp)
c.430A>G (p.Asn144Asp)
c.285-15919T>C (n.285-15919T>C)
c.266-387A>G (n.266-387A>G)
c.310A>G (p.Asn104Asp)
n.2246A>G
c.599A>G
c.482A>G
16g.72060276A>TCA396676940HP,TXNL4Bc.607A>T (p.Asn203Tyr)
c.232A>T (p.Asn78Tyr)
c.715A>T (p.Asn239Tyr)
c.430A>T (p.Asn144Tyr)
c.285-15919T>A (n.285-15919T>A)
c.266-387A>T (n.266-387A>T)
c.310A>T (p.Asn104Tyr)
n.2246A>T
c.599A>T
c.482A>T
16g.72060277A=CA2231555187HP,TXNL4Bc.608A= (p.Asn203=)
c.233A= (p.Asn78=)
c.716A= (p.Asn239=)
c.431A= (p.Asn144=)
c.285-15920T= (n.285-15920T=)
c.266-386A= (n.266-386A=)
c.311A= (p.Asn104=)
n.2247A=
c.600A=
c.483A=
16g.72060277A>CCA396676945HP,TXNL4Bc.608A>C (p.Asn203Thr)
c.233A>C (p.Asn78Thr)
c.716A>C (p.Asn239Thr)
c.431A>C (p.Asn144Thr)
c.285-15920T>G (n.285-15920T>G)
c.266-386A>C (n.266-386A>C)
c.311A>C (p.Asn104Thr)
n.2247A>C
c.600A>C
c.483A>C
16g.72060277A>GCA396676947HP,TXNL4Bc.608A>G (p.Asn203Ser)
c.233A>G (p.Asn78Ser)
c.716A>G (p.Asn239Ser)
c.431A>G (p.Asn144Ser)
c.285-15920T>C (n.285-15920T>C)
c.266-386A>G (n.266-386A>G)
c.311A>G (p.Asn104Ser)
n.2247A>G
c.600A>G
c.483A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.72060277A>TCA396676949HP,TXNL4Bc.608A>T (p.Asn203Ile)
c.233A>T (p.Asn78Ile)
c.716A>T (p.Asn239Ile)
c.431A>T (p.Asn144Ile)
c.285-15920T>A (n.285-15920T>A)
c.266-386A>T (n.266-386A>T)
c.311A>T (p.Asn104Ile)
n.2247A>T
c.600A>T
c.483A>T
16g.72060278T>ACA396676956HP,TXNL4Bc.609T>A (p.Asn203Lys)
c.234T>A (p.Asn78Lys)
c.717T>A (p.Asn239Lys)
c.432T>A (p.Asn144Lys)
c.285-15921A>T (n.285-15921A>T)
c.266-385T>A (n.266-385T>A)
c.312T>A (p.Asn104Lys)
n.2248T>A
c.601T>A
c.484T>A
16g.72060278T>CCA496414650HP,TXNL4Bc.609T>C (p.Asn203=)
c.234T>C (p.Asn78=)
c.717T>C (p.Asn239=)
c.432T>C (p.Asn144=)
c.285-15921A>G (n.285-15921A>G)
c.266-385T>C (n.266-385T>C)
c.312T>C (p.Asn104=)
n.2248T>C
c.601T>C
c.484T>C
16g.72060278T>GCA396676953HP,TXNL4Bc.609T>G (p.Asn203Lys)
c.234T>G (p.Asn78Lys)
c.717T>G (p.Asn239Lys)
c.432T>G (p.Asn144Lys)
c.285-15921A>C (n.285-15921A>C)
c.266-385T>G (n.266-385T>G)
c.312T>G (p.Asn104Lys)
n.2248T>G
c.601T>G
c.484T>G
16g.72060279C>ACA396676957HP,TXNL4Bc.610C>A (p.Leu204Ile)
c.235C>A (p.Leu79Ile)
c.718C>A (p.Leu240Ile)
c.433C>A (p.Leu145Ile)
c.285-15922G>T (n.285-15922G>T)
c.266-384C>A (n.266-384C>A)
c.313C>A (p.Leu105Ile)
n.2249C>A
c.602C>A
c.485C>A
16g.72060279C=CA2231555188HP,TXNL4Bc.610C= (p.Leu204=)
c.235C= (p.Leu79=)
c.718C= (p.Leu240=)
c.433C= (p.Leu145=)
c.285-15922G= (n.285-15922G=)
c.266-384C= (n.266-384C=)
c.313C= (p.Leu105=)
n.2249C=
c.602C=
c.485C=
16g.72060279C>GCA396676962HP,TXNL4Bc.610C>G (p.Leu204Val)
c.235C>G (p.Leu79Val)
c.718C>G (p.Leu240Val)
c.433C>G (p.Leu145Val)
c.285-15922G>C (n.285-15922G>C)
c.266-384C>G (n.266-384C>G)
c.313C>G (p.Leu105Val)
n.2249C>G
c.602C>G
c.485C>G
16g.72060279C>TCA396676969HP,TXNL4Bc.610C>T (p.Leu204Phe)
c.235C>T (p.Leu79Phe)
c.718C>T (p.Leu240Phe)
c.433C>T (p.Leu145Phe)
c.285-15922G>A (n.285-15922G>A)
c.266-384C>T (n.266-384C>T)
c.313C>T (p.Leu105Phe)
n.2249C>T
c.602C>T
c.485C>T
 dbSNP gnomAD v2
16g.72060280T>ACA396676974HP,TXNL4Bc.611T>A (p.Leu204His)
c.236T>A (p.Leu79His)
c.719T>A (p.Leu240His)
c.434T>A (p.Leu145His)
c.285-15923A>T (n.285-15923A>T)
c.266-383T>A (n.266-383T>A)
c.314T>A (p.Leu105His)
n.2250T>A
c.603T>A
c.486T>A
16g.72060280T>CCA396676977HP,TXNL4Bc.611T>C (p.Leu204Pro)
c.236T>C (p.Leu79Pro)
c.719T>C (p.Leu240Pro)
c.434T>C (p.Leu145Pro)
c.285-15923A>G (n.285-15923A>G)
c.266-383T>C (n.266-383T>C)
c.314T>C (p.Leu105Pro)
n.2250T>C
c.603T>C
c.486T>C
16g.72060280T>GCA396676985HP,TXNL4Bc.611T>G (p.Leu204Arg)
c.236T>G (p.Leu79Arg)
c.719T>G (p.Leu240Arg)
c.434T>G (p.Leu145Arg)
c.285-15923A>C (n.285-15923A>C)
c.266-383T>G (n.266-383T>G)
c.314T>G (p.Leu105Arg)
n.2250T>G
c.603T>G
c.486T>G
16g.72060281C>ACA496414652HP,TXNL4Bc.612C>A (p.Leu204=)
c.237C>A (p.Leu79=)
c.720C>A (p.Leu240=)
c.435C>A (p.Leu145=)
c.285-15924G>T (n.285-15924G>T)
c.266-382C>A (n.266-382C>A)
c.315C>A (p.Leu105=)
n.2251C>A
c.604C>A
c.487C>A
16g.72060281C>GCA496414653HP,TXNL4Bc.612C>G (p.Leu204=)
c.237C>G (p.Leu79=)
c.720C>G (p.Leu240=)
c.435C>G (p.Leu145=)
c.285-15924G>C (n.285-15924G>C)
c.266-382C>G (n.266-382C>G)
c.315C>G (p.Leu105=)
n.2251C>G
c.604C>G
c.487C>G
16g.72060281C>TCA496414654HP,TXNL4Bc.612C>T (p.Leu204=)
c.237C>T (p.Leu79=)
c.720C>T (p.Leu240=)
c.435C>T (p.Leu145=)
c.285-15924G>A (n.285-15924G>A)
c.266-382C>T (n.266-382C>T)
c.315C>T (p.Leu105=)
n.2251C>T
c.604C>T
c.487C>T
 COSMIC
16g.72060282T>ACA396676986HP,TXNL4Bc.613T>A (p.Phe205Ile)
c.238T>A (p.Phe80Ile)
c.721T>A (p.Phe241Ile)
c.436T>A (p.Phe146Ile)
c.285-15925A>T (n.285-15925A>T)
c.266-381T>A (n.266-381T>A)
c.316T>A (p.Phe106Ile)
n.2252T>A
c.605T>A
c.488T>A
16g.72060282T>CCA396676987HP,TXNL4Bc.613T>C (p.Phe205Leu)
c.238T>C (p.Phe80Leu)
c.721T>C (p.Phe241Leu)
c.436T>C (p.Phe146Leu)
c.285-15925A>G (n.285-15925A>G)
c.266-381T>C (n.266-381T>C)
c.316T>C (p.Phe106Leu)
n.2252T>C
c.605T>C
c.488T>C
 dbSNP gnomAD v2 gnomAD v4
16g.72060282T>GCA396676988HP,TXNL4Bc.613T>G (p.Phe205Val)
c.238T>G (p.Phe80Val)
c.721T>G (p.Phe241Val)
c.436T>G (p.Phe146Val)
c.285-15925A>C (n.285-15925A>C)
c.266-381T>G (n.266-381T>G)
c.316T>G (p.Phe106Val)
n.2252T>G
c.605T>G
c.488T>G
 gnomAD v4
16g.72060282T=CA2231555189HP,TXNL4Bc.613T= (p.Phe205=)
c.238T= (p.Phe80=)
c.721T= (p.Phe241=)
c.436T= (p.Phe146=)
c.285-15925A= (n.285-15925A=)
c.266-381T= (n.266-381T=)
c.316T= (p.Phe106=)
n.2252T=
c.605T=
c.488T=
16g.72060283T>ACA396676991HP,TXNL4Bc.614T>A (p.Phe205Tyr)
c.239T>A (p.Phe80Tyr)
c.722T>A (p.Phe241Tyr)
c.437T>A (p.Phe146Tyr)
c.285-15926A>T (n.285-15926A>T)
c.266-380T>A (n.266-380T>A)
c.317T>A (p.Phe106Tyr)
n.2253T>A
c.606T>A
c.489T>A
16g.72060283T>CCA396676994HP,TXNL4Bc.614T>C (p.Phe205Ser)
c.239T>C (p.Phe80Ser)
c.722T>C (p.Phe241Ser)
c.437T>C (p.Phe146Ser)
c.285-15926A>G (n.285-15926A>G)
c.266-380T>C (n.266-380T>C)
c.317T>C (p.Phe106Ser)
n.2253T>C
c.606T>C
c.489T>C
 dbSNP gnomAD v4
16g.72060283T>GCA396676998HP,TXNL4Bc.614T>G (p.Phe205Cys)
c.239T>G (p.Phe80Cys)
c.722T>G (p.Phe241Cys)
c.437T>G (p.Phe146Cys)
c.285-15926A>C (n.285-15926A>C)
c.266-380T>G (n.266-380T>G)
c.317T>G (p.Phe106Cys)
n.2253T>G
c.606T>G
c.489T>G
16g.72060283T=CA2231555191HP,TXNL4Bc.614T= (p.Phe205=)
c.239T= (p.Phe80=)
c.722T= (p.Phe241=)
c.437T= (p.Phe146=)
c.285-15926A= (n.285-15926A=)
c.266-380T= (n.266-380T=)
c.317T= (p.Phe106=)
n.2253T=
c.606T=
c.489T=
16g.72060283_72060284delinsTCCA2231555190HP,TXNL4Bc.614_615delinsTC (p.Phe205=)
c.239_240delinsTC (p.Phe80=)
c.722_723delinsTC (p.Phe241=)
c.437_438delinsTC (p.Phe146=)
c.285-15927_285-15926delinsGA (n.285-15927_285-15926delinsGA)
c.266-380_266-379delinsTC (n.266-380_266-379delinsTC)
c.317_318delinsTC (p.Phe106=)
n.2253_2254delinsTC
c.606_607delinsTC
c.489_490delinsTC
16g.72060284C>ACA396677004HP,TXNL4Bc.615C>A (p.Phe205Leu)
c.240C>A (p.Phe80Leu)
c.723C>A (p.Phe241Leu)
c.438C>A (p.Phe146Leu)
c.285-15927G>T (n.285-15927G>T)
c.266-379C>A (n.266-379C>A)
c.318C>A (p.Phe106Leu)
n.2254C>A
c.607C>A
c.490C>A
16g.72060284C>GCA396677006HP,TXNL4Bc.615C>G (p.Phe205Leu)
c.240C>G (p.Phe80Leu)
c.723C>G (p.Phe241Leu)
c.438C>G (p.Phe146Leu)
c.285-15927G>C (n.285-15927G>C)
c.266-379C>G (n.266-379C>G)
c.318C>G (p.Phe106Leu)
n.2254C>G
c.607C>G
c.490C>G
16g.72060284C>TCA496414801HP,TXNL4Bc.615C>T (p.Phe205=)
c.240C>T (p.Phe80=)
c.723C>T (p.Phe241=)
c.438C>T (p.Phe146=)
c.285-15927G>A (n.285-15927G>A)
c.266-379C>T (n.266-379C>T)
c.318C>T (p.Phe106=)
n.2254C>T
c.607C>T
c.490C>T
16g.72060285delCA8159148HP,TXNL4Bc.616del (p.Leu206Ter)
c.241del (p.Leu81Ter)
c.724del (p.Leu242Ter)
c.439del (p.Leu147Ter)
c.285-15927del (n.285-15927del)
c.266-378del (n.266-378del)
c.319del (p.Leu107Ter)
n.2255del
c.608del
c.491del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060285C>ACA396677010HP,TXNL4Bc.616C>A (p.Leu206Met)
c.241C>A (p.Leu81Met)
c.724C>A (p.Leu242Met)
c.439C>A (p.Leu147Met)
c.285-15928G>T (n.285-15928G>T)
c.266-378C>A (n.266-378C>A)
c.319C>A (p.Leu107Met)
n.2255C>A
c.608C>A
c.491C>A
16g.72060285C=CA2231555192HP,TXNL4Bc.616C= (p.Leu206=)
c.241C= (p.Leu81=)
c.724C= (p.Leu242=)
c.439C= (p.Leu147=)
c.285-15928G= (n.285-15928G=)
c.266-378C= (n.266-378C=)
c.319C= (p.Leu107=)
n.2255C=
c.608C=
c.491C=
16g.72060285C>GCA396677013HP,TXNL4Bc.616C>G (p.Leu206Val)
c.241C>G (p.Leu81Val)
c.724C>G (p.Leu242Val)
c.439C>G (p.Leu147Val)
c.285-15928G>C (n.285-15928G>C)
c.266-378C>G (n.266-378C>G)
c.319C>G (p.Leu107Val)
n.2255C>G
c.608C>G
c.491C>G
16g.72060285C>TCA496414804HP,TXNL4Bc.616C>T (p.Leu206=)
c.241C>T (p.Leu81=)
c.724C>T (p.Leu242=)
c.439C>T (p.Leu147=)
c.285-15928G>A (n.285-15928G>A)
c.266-378C>T (n.266-378C>T)
c.319C>T (p.Leu107=)
n.2255C>T
c.608C>T
c.491C>T
 dbSNP gnomAD v2 gnomAD v4
16g.72060286T>ACA396677016HP,TXNL4Bc.617T>A (p.Leu206Gln)
c.242T>A (p.Leu81Gln)
c.725T>A (p.Leu242Gln)
c.440T>A (p.Leu147Gln)
c.285-15929A>T (n.285-15929A>T)
c.266-377T>A (n.266-377T>A)
c.320T>A (p.Leu107Gln)
n.2256T>A
c.609T>A
c.492T>A
16g.72060286T>CCA396677019HP,TXNL4Bc.617T>C (p.Leu206Pro)
c.242T>C (p.Leu81Pro)
c.725T>C (p.Leu242Pro)
c.440T>C (p.Leu147Pro)
c.285-15929A>G (n.285-15929A>G)
c.266-377T>C (n.266-377T>C)
c.320T>C (p.Leu107Pro)
n.2256T>C
c.609T>C
c.492T>C
16g.72060286T>GCA396677022HP,TXNL4Bc.617T>G (p.Leu206Arg)
c.242T>G (p.Leu81Arg)
c.725T>G (p.Leu242Arg)
c.440T>G (p.Leu147Arg)
c.285-15929A>C (n.285-15929A>C)
c.266-377T>G (n.266-377T>G)
c.320T>G (p.Leu107Arg)
n.2256T>G
c.609T>G
c.492T>G
16g.72060287G>ACA8159149HP,TXNL4Bc.618G>A (p.Leu206=)
c.243G>A (p.Leu81=)
c.726G>A (p.Leu242=)
c.441G>A (p.Leu147=)
c.285-15930C>T (n.285-15930C>T)
c.266-376G>A (n.266-376G>A)
c.321G>A (p.Leu107=)
n.2257G>A
c.610G>A
c.493G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060287G>CCA496414806HP,TXNL4Bc.618G>C (p.Leu206=)
c.243G>C (p.Leu81=)
c.726G>C (p.Leu242=)
c.441G>C (p.Leu147=)
c.285-15930C>G (n.285-15930C>G)
c.266-376G>C (n.266-376G>C)
c.321G>C (p.Leu107=)
n.2257G>C
c.610G>C
c.493G>C
16g.72060287G=CA2231555193HP,TXNL4Bc.618G= (p.Leu206=)
c.243G= (p.Leu81=)
c.726G= (p.Leu242=)
c.441G= (p.Leu147=)
c.285-15930C= (n.285-15930C=)
c.266-376G= (n.266-376G=)
c.321G= (p.Leu107=)
n.2257G=
c.610G=
c.493G=
16g.72060287G>TCA496414807HP,TXNL4Bc.618G>T (p.Leu206=)
c.243G>T (p.Leu81=)
c.726G>T (p.Leu242=)
c.441G>T (p.Leu147=)
c.285-15930C>A (n.285-15930C>A)
c.266-376G>T (n.266-376G>T)
c.321G>T (p.Leu107=)
n.2257G>T
c.610G>T
c.493G>T
16g.72060288A>CCA396677026HP,TXNL4Bc.619A>C (p.Asn207His)
c.244A>C (p.Asn82His)
c.727A>C (p.Asn243His)
c.442A>C (p.Asn148His)
c.285-15931T>G (n.285-15931T>G)
c.266-375A>C (n.266-375A>C)
c.322A>C (p.Asn108His)
n.2258A>C
c.611A>C
c.494A>C
16g.72060288A>GCA396677033HP,TXNL4Bc.619A>G (p.Asn207Asp)
c.244A>G (p.Asn82Asp)
c.727A>G (p.Asn243Asp)
c.442A>G (p.Asn148Asp)
c.285-15931T>C (n.285-15931T>C)
c.266-375A>G (n.266-375A>G)
c.322A>G (p.Asn108Asp)
n.2258A>G
c.611A>G
c.494A>G
16g.72060288A>TCA396677036HP,TXNL4Bc.619A>T (p.Asn207Tyr)
c.244A>T (p.Asn82Tyr)
c.727A>T (p.Asn243Tyr)
c.442A>T (p.Asn148Tyr)
c.285-15931T>A (n.285-15931T>A)
c.266-375A>T (n.266-375A>T)
c.322A>T (p.Asn108Tyr)
n.2258A>T
c.611A>T
c.494A>T
16g.72060289A=CA2231555194HP,TXNL4Bc.620A= (p.Asn207=)
c.245A= (p.Asn82=)
c.728A= (p.Asn243=)
c.443A= (p.Asn148=)
c.285-15932T= (n.285-15932T=)
c.266-374A= (n.266-374A=)
c.323A= (p.Asn108=)
n.2259A=
c.612A=
c.495A=
16g.72060289A>CCA396677040HP,TXNL4Bc.620A>C (p.Asn207Thr)
c.245A>C (p.Asn82Thr)
c.728A>C (p.Asn243Thr)
c.443A>C (p.Asn148Thr)
c.285-15932T>G (n.285-15932T>G)
c.266-374A>C (n.266-374A>C)
c.323A>C (p.Asn108Thr)
n.2259A>C
c.612A>C
c.495A>C
16g.72060289A>GCA8159150HP,TXNL4Bc.620A>G (p.Asn207Ser)
c.245A>G (p.Asn82Ser)
c.728A>G (p.Asn243Ser)
c.443A>G (p.Asn148Ser)
c.285-15932T>C (n.285-15932T>C)
c.266-374A>G (n.266-374A>G)
c.323A>G (p.Asn108Ser)
n.2259A>G
c.612A>G
c.495A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060289A>TCA396677056HP,TXNL4Bc.620A>T (p.Asn207Ile)
c.245A>T (p.Asn82Ile)
c.728A>T (p.Asn243Ile)
c.443A>T (p.Asn148Ile)
c.285-15932T>A (n.285-15932T>A)
c.266-374A>T (n.266-374A>T)
c.323A>T (p.Asn108Ile)
n.2259A>T
c.612A>T
c.495A>T
16g.72060290C>ACA396677065HP,TXNL4Bc.621C>A (p.Asn207Lys)
c.246C>A (p.Asn82Lys)
c.729C>A (p.Asn243Lys)
c.444C>A (p.Asn148Lys)
c.285-15933G>T (n.285-15933G>T)
c.266-373C>A (n.266-373C>A)
c.324C>A (p.Asn108Lys)
n.2260C>A
c.613C>A
c.496C>A
16g.72060290C=CA2231555195HP,TXNL4Bc.621C= (p.Asn207=)
c.246C= (p.Asn82=)
c.729C= (p.Asn243=)
c.444C= (p.Asn148=)
c.285-15933G= (n.285-15933G=)
c.266-373C= (n.266-373C=)
c.324C= (p.Asn108=)
n.2260C=
c.613C=
c.496C=
16g.72060290C>GCA396677063HP,TXNL4Bc.621C>G (p.Asn207Lys)
c.246C>G (p.Asn82Lys)
c.729C>G (p.Asn243Lys)
c.444C>G (p.Asn148Lys)
c.285-15933G>C (n.285-15933G>C)
c.266-373C>G (n.266-373C>G)
c.324C>G (p.Asn108Lys)
n.2260C>G
c.613C>G
c.496C>G
16g.72060290C>TCA8159151HP,TXNL4Bc.621C>T (p.Asn207=)
c.246C>T (p.Asn82=)
c.729C>T (p.Asn243=)
c.444C>T (p.Asn148=)
c.285-15933G>A (n.285-15933G>A)
c.266-373C>T (n.266-373C>T)
c.324C>T (p.Asn108=)
n.2260C>T
c.613C>T
c.496C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060291C>ACA396677070HP,TXNL4Bc.622C>A (p.His208Asn)
c.247C>A (p.His83Asn)
c.730C>A (p.His244Asn)
c.445C>A (p.His149Asn)
c.285-15934G>T (n.285-15934G>T)
c.266-372C>A (n.266-372C>A)
c.325C>A (p.His109Asn)
n.2261C>A
c.614C>A
c.497C>A
16g.72060291C>GCA396677073HP,TXNL4Bc.622C>G (p.His208Asp)
c.247C>G (p.His83Asp)
c.730C>G (p.His244Asp)
c.445C>G (p.His149Asp)
c.285-15934G>C (n.285-15934G>C)
c.266-372C>G (n.266-372C>G)
c.325C>G (p.His109Asp)
n.2261C>G
c.614C>G
c.497C>G
16g.72060291C>TCA396677075HP,TXNL4Bc.622C>T (p.His208Tyr)
c.247C>T (p.His83Tyr)
c.730C>T (p.His244Tyr)
c.445C>T (p.His149Tyr)
c.285-15934G>A (n.285-15934G>A)
c.266-372C>T (n.266-372C>T)
c.325C>T (p.His109Tyr)
n.2261C>T
c.614C>T
c.497C>T
16g.72060292A=CA2231555196HP,TXNL4Bc.623A= (p.His208=)
c.248A= (p.His83=)
c.731A= (p.His244=)
c.446A= (p.His149=)
c.285-15935T= (n.285-15935T=)
c.266-371A= (n.266-371A=)
c.326A= (p.His109=)
n.2262A=
c.615A=
c.498A=
16g.72060292A>CCA396677076HP,TXNL4Bc.623A>C (p.His208Pro)
c.248A>C (p.His83Pro)
c.731A>C (p.His244Pro)
c.446A>C (p.His149Pro)
c.285-15935T>G (n.285-15935T>G)
c.266-371A>C (n.266-371A>C)
c.326A>C (p.His109Pro)
n.2262A>C
c.615A>C
c.498A>C
 gnomAD v4
16g.72060292A>GCA396677082HP,TXNL4Bc.623A>G (p.His208Arg)
c.248A>G (p.His83Arg)
c.731A>G (p.His244Arg)
c.446A>G (p.His149Arg)
c.285-15935T>C (n.285-15935T>C)
c.266-371A>G (n.266-371A>G)
c.326A>G (p.His109Arg)
n.2262A>G
c.615A>G
c.498A>G
 dbSNP gnomAD v2 gnomAD v4
16g.72060292A>TCA396677085HP,TXNL4Bc.623A>T (p.His208Leu)
c.248A>T (p.His83Leu)
c.731A>T (p.His244Leu)
c.446A>T (p.His149Leu)
c.285-15935T>A (n.285-15935T>A)
c.266-371A>T (n.266-371A>T)
c.326A>T (p.His109Leu)
n.2262A>T
c.615A>T
c.498A>T
16g.72060293T>ACA396677089HP,TXNL4Bc.624T>A (p.His208Gln)
c.249T>A (p.His83Gln)
c.732T>A (p.His244Gln)
c.447T>A (p.His149Gln)
c.285-15936A>T (n.285-15936A>T)
c.266-370T>A (n.266-370T>A)
c.327T>A (p.His109Gln)
n.2263T>A
c.616T>A
c.499T>A
16g.72060293T>CCA496414819HP,TXNL4Bc.624T>C (p.His208=)
c.249T>C (p.His83=)
c.732T>C (p.His244=)
c.447T>C (p.His149=)
c.285-15936A>G (n.285-15936A>G)
c.266-370T>C (n.266-370T>C)
c.327T>C (p.His109=)
n.2263T>C
c.616T>C
c.499T>C
16g.72060293T>GCA396677092HP,TXNL4Bc.624T>G (p.His208Gln)
c.249T>G (p.His83Gln)
c.732T>G (p.His244Gln)
c.447T>G (p.His149Gln)
c.285-15936A>C (n.285-15936A>C)
c.266-370T>G (n.266-370T>G)
c.327T>G (p.His109Gln)
n.2263T>G
c.616T>G
c.499T>G
16g.72060294T>ACA396677098HP,TXNL4Bc.625T>A (p.Ser209Thr)
c.250T>A (p.Ser84Thr)
c.733T>A (p.Ser245Thr)
c.448T>A (p.Ser150Thr)
c.285-15937A>T (n.285-15937A>T)
c.266-369T>A (n.266-369T>A)
c.328T>A (p.Ser110Thr)
n.2264T>A
c.617T>A
c.500T>A
16g.72060294T>CCA396677100HP,TXNL4Bc.625T>C (p.Ser209Pro)
c.250T>C (p.Ser84Pro)
c.733T>C (p.Ser245Pro)
c.448T>C (p.Ser150Pro)
c.285-15937A>G (n.285-15937A>G)
c.266-369T>C (n.266-369T>C)
c.328T>C (p.Ser110Pro)
n.2264T>C
c.617T>C
c.500T>C
16g.72060294T>GCA396677101HP,TXNL4Bc.625T>G (p.Ser209Ala)
c.250T>G (p.Ser84Ala)
c.733T>G (p.Ser245Ala)
c.448T>G (p.Ser150Ala)
c.285-15937A>C (n.285-15937A>C)
c.266-369T>G (n.266-369T>G)
c.328T>G (p.Ser110Ala)
n.2264T>G
c.617T>G
c.500T>G
16g.72060295C>ACA396677105HP,TXNL4Bc.626C>A (p.Ser209Ter)
c.251C>A (p.Ser84Ter)
c.734C>A (p.Ser245Ter)
c.449C>A (p.Ser150Ter)
c.285-15938G>T (n.285-15938G>T)
c.266-368C>A (n.266-368C>A)
c.329C>A (p.Ser110Ter)
n.2265C>A
c.618C>A
c.501C>A
16g.72060295C>GCA396677108HP,TXNL4Bc.626C>G (p.Ser209Ter)
c.251C>G (p.Ser84Ter)
c.734C>G (p.Ser245Ter)
c.449C>G (p.Ser150Ter)
c.285-15938G>C (n.285-15938G>C)
c.266-368C>G (n.266-368C>G)
c.329C>G (p.Ser110Ter)
n.2265C>G
c.618C>G
c.501C>G
16g.72060295C>TCA396677109HP,TXNL4Bc.626C>T (p.Ser209Leu)
c.251C>T (p.Ser84Leu)
c.734C>T (p.Ser245Leu)
c.449C>T (p.Ser150Leu)
c.285-15938G>A (n.285-15938G>A)
c.266-368C>T (n.266-368C>T)
c.329C>T (p.Ser110Leu)
n.2265C>T
c.618C>T
c.501C>T
 gnomAD v4
16g.72060296A>CCA496414824HP,TXNL4Bc.627A>C (p.Ser209=)
c.252A>C (p.Ser84=)
c.735A>C (p.Ser245=)
c.450A>C (p.Ser150=)
c.285-15939T>G (n.285-15939T>G)
c.266-367A>C (n.266-367A>C)
c.330A>C (p.Ser110=)
n.2266A>C
c.619A>C
c.502A>C
16g.72060296A>GCA496414825HP,TXNL4Bc.627A>G (p.Ser209=)
c.252A>G (p.Ser84=)
c.735A>G (p.Ser245=)
c.450A>G (p.Ser150=)
c.285-15939T>C (n.285-15939T>C)
c.266-367A>G (n.266-367A>G)
c.330A>G (p.Ser110=)
n.2266A>G
c.619A>G
c.502A>G
16g.72060296A>TCA496414826HP,TXNL4Bc.627A>T (p.Ser209=)
c.252A>T (p.Ser84=)
c.735A>T (p.Ser245=)
c.450A>T (p.Ser150=)
c.285-15939T>A (n.285-15939T>A)
c.266-367A>T (n.266-367A>T)
c.330A>T (p.Ser110=)
n.2266A>T
c.619A>T
c.502A>T
16g.72060297G>ACA8159152HP,TXNL4Bc.628G>A (p.Glu210Lys)
c.253G>A (p.Glu85Lys)
c.736G>A (p.Glu246Lys)
c.451G>A (p.Glu151Lys)
c.285-15940C>T (n.285-15940C>T)
c.266-366G>A (n.266-366G>A)
c.331G>A (p.Glu111Lys)
n.2267G>A
c.620G>A
c.503G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.72060297G>CCA396677118HP,TXNL4Bc.628G>C (p.Glu210Gln)
c.253G>C (p.Glu85Gln)
c.736G>C (p.Glu246Gln)
c.451G>C (p.Glu151Gln)
c.285-15940C>G (n.285-15940C>G)
c.266-366G>C (n.266-366G>C)
c.331G>C (p.Glu111Gln)
n.2267G>C
c.620G>C
c.503G>C
16g.72060297G=CA2231555197HP,TXNL4Bc.628G= (p.Glu210=)
c.253G= (p.Glu85=)
c.736G= (p.Glu246=)
c.451G= (p.Glu151=)
c.285-15940C= (n.285-15940C=)
c.266-366G= (n.266-366G=)
c.331G= (p.Glu111=)
n.2267G=
c.620G=
c.503G=
16g.72060297G>TCA396677113HP,TXNL4Bc.628G>T (p.Glu210Ter)
c.253G>T (p.Glu85Ter)
c.736G>T (p.Glu246Ter)
c.451G>T (p.Glu151Ter)
c.285-15940C>A (n.285-15940C>A)
c.266-366G>T (n.266-366G>T)
c.331G>T (p.Glu111Ter)
n.2267G>T
c.620G>T
c.503G>T
16g.72060298A>CCA396677122HP,TXNL4Bc.629A>C (p.Glu210Ala)
c.254A>C (p.Glu85Ala)
c.737A>C (p.Glu246Ala)
c.452A>C (p.Glu151Ala)
c.285-15941T>G (n.285-15941T>G)
c.266-365A>C (n.266-365A>C)
c.332A>C (p.Glu111Ala)
n.2268A>C
c.621A>C
c.504A>C
16g.72060298A>GCA396677123HP,TXNL4Bc.629A>G (p.Glu210Gly)
c.254A>G (p.Glu85Gly)
c.737A>G (p.Glu246Gly)
c.452A>G (p.Glu151Gly)
c.285-15941T>C (n.285-15941T>C)
c.266-365A>G (n.266-365A>G)
c.332A>G (p.Glu111Gly)
n.2268A>G
c.621A>G
c.504A>G
16g.72060298A>TCA396677125HP,TXNL4Bc.629A>T (p.Glu210Val)
c.254A>T (p.Glu85Val)
c.737A>T (p.Glu246Val)
c.452A>T (p.Glu151Val)
c.285-15941T>A (n.285-15941T>A)
c.266-365A>T (n.266-365A>T)
c.332A>T (p.Glu111Val)
n.2268A>T
c.621A>T
c.504A>T
16g.72060299A>CCA396677129HP,TXNL4Bc.630A>C (p.Glu210Asp)
c.255A>C (p.Glu85Asp)
c.738A>C (p.Glu246Asp)
c.453A>C (p.Glu151Asp)
c.285-15942T>G (n.285-15942T>G)
c.266-364A>C (n.266-364A>C)
c.333A>C (p.Glu111Asp)
n.2269A>C
c.622A>C
c.505A>C
16g.72060299A>GCA496414829HP,TXNL4Bc.630A>G (p.Glu210=)
c.255A>G (p.Glu85=)
c.738A>G (p.Glu246=)
c.453A>G (p.Glu151=)
c.285-15942T>C (n.285-15942T>C)
c.266-364A>G (n.266-364A>G)
c.333A>G (p.Glu111=)
n.2269A>G
c.622A>G
c.505A>G
16g.72060299A>TCA396677132HP,TXNL4Bc.630A>T (p.Glu210Asp)
c.255A>T (p.Glu85Asp)
c.738A>T (p.Glu246Asp)
c.453A>T (p.Glu151Asp)
c.285-15942T>A (n.285-15942T>A)
c.266-364A>T (n.266-364A>T)
c.333A>T (p.Glu111Asp)
n.2269A>T
c.622A>T
c.505A>T
16g.72060300A=CA2231555198HP,TXNL4Bc.631A= (p.Asn211=)
c.256A= (p.Asn86=)
c.739A= (p.Asn247=)
c.454A= (p.Asn152=)
c.285-15943T= (n.285-15943T=)
c.266-363A= (n.266-363A=)
c.334A= (p.Asn112=)
n.2270A=
c.623A=
c.506A=
16g.72060300A>CCA396677136HP,TXNL4Bc.631A>C (p.Asn211His)
c.256A>C (p.Asn86His)
c.739A>C (p.Asn247His)
c.454A>C (p.Asn152His)
c.285-15943T>G (n.285-15943T>G)
c.266-363A>C (n.266-363A>C)
c.334A>C (p.Asn112His)
n.2270A>C
c.623A>C
c.506A>C
 dbSNP
16g.72060300A>GCA396677140HP,TXNL4Bc.631A>G (p.Asn211Asp)
c.256A>G (p.Asn86Asp)
c.739A>G (p.Asn247Asp)
c.454A>G (p.Asn152Asp)
c.285-15943T>C (n.285-15943T>C)
c.266-363A>G (n.266-363A>G)
c.334A>G (p.Asn112Asp)
n.2270A>G
c.623A>G
c.506A>G
16g.72060300A>TCA396677142HP,TXNL4Bc.631A>T (p.Asn211Tyr)
c.256A>T (p.Asn86Tyr)
c.739A>T (p.Asn247Tyr)
c.454A>T (p.Asn152Tyr)
c.285-15943T>A (n.285-15943T>A)
c.266-363A>T (n.266-363A>T)
c.334A>T (p.Asn112Tyr)
n.2270A>T
c.623A>T
c.506A>T
16g.72060301A>CCA396677144HP,TXNL4Bc.632A>C (p.Asn211Thr)
c.257A>C (p.Asn86Thr)
c.740A>C (p.Asn247Thr)
c.455A>C (p.Asn152Thr)
c.285-15944T>G (n.285-15944T>G)
c.266-362A>C (n.266-362A>C)
c.335A>C (p.Asn112Thr)
n.2271A>C
c.624A>C
c.507A>C
16g.72060301A>GCA396677147HP,TXNL4Bc.632A>G (p.Asn211Ser)
c.257A>G (p.Asn86Ser)
c.740A>G (p.Asn247Ser)
c.455A>G (p.Asn152Ser)
c.285-15944T>C (n.285-15944T>C)
c.266-362A>G (n.266-362A>G)
c.335A>G (p.Asn112Ser)
n.2271A>G
c.624A>G
c.507A>G
16g.72060301A>TCA396677151HP,TXNL4Bc.632A>T (p.Asn211Ile)
c.257A>T (p.Asn86Ile)
c.740A>T (p.Asn247Ile)
c.455A>T (p.Asn152Ile)
c.285-15944T>A (n.285-15944T>A)
c.266-362A>T (n.266-362A>T)
c.335A>T (p.Asn112Ile)
n.2271A>T
c.624A>T
c.507A>T
16g.72060302T>ACA396677162HP,TXNL4Bc.633T>A (p.Asn211Lys)
c.258T>A (p.Asn86Lys)
c.741T>A (p.Asn247Lys)
c.456T>A (p.Asn152Lys)
c.285-15945A>T (n.285-15945A>T)
c.266-361T>A (n.266-361T>A)
c.336T>A (p.Asn112Lys)
n.2272T>A
c.625T>A
c.508T>A
16g.72060302T>CCA496414834HP,TXNL4Bc.633T>C (p.Asn211=)
c.258T>C (p.Asn86=)
c.741T>C (p.Asn247=)
c.456T>C (p.Asn152=)
c.285-15945A>G (n.285-15945A>G)
c.266-361T>C (n.266-361T>C)
c.336T>C (p.Asn112=)
n.2272T>C
c.625T>C
c.508T>C
 dbSNP gnomAD v2 gnomAD v4
16g.72060302T>GCA396677165HP,TXNL4Bc.633T>G (p.Asn211Lys)
c.258T>G (p.Asn86Lys)
c.741T>G (p.Asn247Lys)
c.456T>G (p.Asn152Lys)
c.285-15945A>C (n.285-15945A>C)
c.266-361T>G (n.266-361T>G)
c.336T>G (p.Asn112Lys)
n.2272T>G
c.625T>G
c.508T>G
 dbSNP gnomAD v2 gnomAD v4
16g.72060302T=CA2231555199HP,TXNL4Bc.633T= (p.Asn211=)
c.258T= (p.Asn86=)
c.741T= (p.Asn247=)
c.456T= (p.Asn152=)
c.285-15945A= (n.285-15945A=)
c.266-361T= (n.266-361T=)
c.336T= (p.Asn112=)
n.2272T=
c.625T=
c.508T=
16g.72060303G>ACA396677168HP,TXNL4Bc.634G>A (p.Ala212Thr)
c.259G>A (p.Ala87Thr)
c.742G>A (p.Ala248Thr)
c.457G>A (p.Ala153Thr)
c.285-15946C>T (n.285-15946C>T)
c.266-360G>A (n.266-360G>A)
c.337G>A (p.Ala113Thr)
n.2273G>A
c.626G>A
c.509G>A
 gnomAD v4
16g.72060303G>CCA396677166HP,TXNL4Bc.634G>C (p.Ala212Pro)
c.259G>C (p.Ala87Pro)
c.742G>C (p.Ala248Pro)
c.457G>C (p.Ala153Pro)
c.285-15946C>G (n.285-15946C>G)
c.266-360G>C (n.266-360G>C)
c.337G>C (p.Ala113Pro)
n.2273G>C
c.626G>C
c.509G>C
16g.72060303G>TCA396677167HP,TXNL4Bc.634G>T (p.Ala212Ser)
c.259G>T (p.Ala87Ser)
c.742G>T (p.Ala248Ser)
c.457G>T (p.Ala153Ser)
c.285-15946C>A (n.285-15946C>A)
c.266-360G>T (n.266-360G>T)
c.337G>T (p.Ala113Ser)
n.2273G>T
c.626G>T
c.509G>T
 COSMIC
16g.72060304C>ACA396677169HP,TXNL4Bc.635C>A (p.Ala212Glu)
c.260C>A (p.Ala87Glu)
c.743C>A (p.Ala248Glu)
c.458C>A (p.Ala153Glu)
c.285-15947G>T (n.285-15947G>T)
c.266-359C>A (n.266-359C>A)
c.338C>A (p.Ala113Glu)
n.2274C>A
c.627C>A
c.510C>A
16g.72060304C>GCA396677170HP,TXNL4Bc.635C>G (p.Ala212Gly)
c.260C>G (p.Ala87Gly)
c.743C>G (p.Ala248Gly)
c.458C>G (p.Ala153Gly)
c.285-15947G>C (n.285-15947G>C)
c.266-359C>G (n.266-359C>G)
c.338C>G (p.Ala113Gly)
n.2274C>G
c.627C>G
c.510C>G
16g.72060304C>TCA396677173HP,TXNL4Bc.635C>T (p.Ala212Val)
c.260C>T (p.Ala87Val)
c.743C>T (p.Ala248Val)
c.458C>T (p.Ala153Val)
c.285-15947G>A (n.285-15947G>A)
c.266-359C>T (n.266-359C>T)
c.338C>T (p.Ala113Val)
n.2274C>T
c.627C>T
c.510C>T
16g.72060305A>CCA496414837HP,TXNL4Bc.636A>C (p.Ala212=)
c.261A>C (p.Ala87=)
c.744A>C (p.Ala248=)
c.459A>C (p.Ala153=)
c.285-15948T>G (n.285-15948T>G)
c.266-358A>C (n.266-358A>C)
c.339A>C (p.Ala113=)
n.2275A>C
c.628A>C
c.511A>C
 gnomAD v4
16g.72060305A>GCA496414839HP,TXNL4Bc.636A>G (p.Ala212=)
c.261A>G (p.Ala87=)
c.744A>G (p.Ala248=)
c.459A>G (p.Ala153=)
c.285-15948T>C (n.285-15948T>C)
c.266-358A>G (n.266-358A>G)
c.339A>G (p.Ala113=)
n.2275A>G
c.628A>G
c.511A>G
16g.72060305A>TCA496414838HP,TXNL4Bc.636A>T (p.Ala212=)
c.261A>T (p.Ala87=)
c.744A>T (p.Ala248=)
c.459A>T (p.Ala153=)
c.285-15948T>A (n.285-15948T>A)
c.266-358A>T (n.266-358A>T)
c.339A>T (p.Ala113=)
n.2275A>T
c.628A>T
c.511A>T
16g.72060306A>CCA396677176HP,TXNL4Bc.637A>C (p.Thr213Pro)
c.262A>C (p.Thr88Pro)
c.745A>C (p.Thr249Pro)
c.460A>C (p.Thr154Pro)
c.285-15949T>G (n.285-15949T>G)
c.266-357A>C (n.266-357A>C)
c.340A>C (p.Thr114Pro)
n.2276A>C
c.629A>C
c.512A>C
16g.72060306A>GCA396677177HP,TXNL4Bc.637A>G (p.Thr213Ala)
c.262A>G (p.Thr88Ala)
c.745A>G (p.Thr249Ala)
c.460A>G (p.Thr154Ala)
c.285-15949T>C (n.285-15949T>C)
c.266-357A>G (n.266-357A>G)
c.340A>G (p.Thr114Ala)
n.2276A>G
c.629A>G
c.512A>G
16g.72060306A>TCA396677179HP,TXNL4Bc.637A>T (p.Thr213Ser)
c.262A>T (p.Thr88Ser)
c.745A>T (p.Thr249Ser)
c.460A>T (p.Thr154Ser)
c.285-15949T>A (n.285-15949T>A)
c.266-357A>T (n.266-357A>T)
c.340A>T (p.Thr114Ser)
n.2276A>T
c.629A>T
c.512A>T
16g.72060307C>ACA8159154HP,TXNL4Bc.638C>A (p.Thr213Lys)
c.263C>A (p.Thr88Lys)
c.746C>A (p.Thr249Lys)
c.461C>A (p.Thr154Lys)
c.285-15950G>T (n.285-15950G>T)
c.266-356C>A (n.266-356C>A)
c.341C>A (p.Thr114Lys)
n.2277C>A
c.630C>A
c.513C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060307C=CA2231555200HP,TXNL4Bc.638C= (p.Thr213=)
c.263C= (p.Thr88=)
c.746C= (p.Thr249=)
c.461C= (p.Thr154=)
c.285-15950G= (n.285-15950G=)
c.266-356C= (n.266-356C=)
c.341C= (p.Thr114=)
n.2277C=
c.630C=
c.513C=
16g.72060307C>GCA396677183HP,TXNL4Bc.638C>G (p.Thr213Arg)
c.263C>G (p.Thr88Arg)
c.746C>G (p.Thr249Arg)
c.461C>G (p.Thr154Arg)
c.285-15950G>C (n.285-15950G>C)
c.266-356C>G (n.266-356C>G)
c.341C>G (p.Thr114Arg)
n.2277C>G
c.630C>G
c.513C>G
16g.72060307C>TCA8159153HP,TXNL4Bc.638C>T (p.Thr213Ile)
c.263C>T (p.Thr88Ile)
c.746C>T (p.Thr249Ile)
c.461C>T (p.Thr154Ile)
c.285-15950G>A (n.285-15950G>A)
c.266-356C>T (n.266-356C>T)
c.341C>T (p.Thr114Ile)
n.2277C>T
c.630C>T
c.513C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060308A>CCA496414841HP,TXNL4Bc.639A>C (p.Thr213=)
c.264A>C (p.Thr88=)
c.747A>C (p.Thr249=)
c.462A>C (p.Thr154=)
c.285-15951T>G (n.285-15951T>G)
c.266-355A>C (n.266-355A>C)
c.342A>C (p.Thr114=)
n.2278A>C
c.631A>C
c.514A>C
16g.72060308A>GCA496414842HP,TXNL4Bc.639A>G (p.Thr213=)
c.264A>G (p.Thr88=)
c.747A>G (p.Thr249=)
c.462A>G (p.Thr154=)
c.285-15951T>C (n.285-15951T>C)
c.266-355A>G (n.266-355A>G)
c.342A>G (p.Thr114=)
n.2278A>G
c.631A>G
c.514A>G
16g.72060308A>TCA496414843HP,TXNL4Bc.639A>T (p.Thr213=)
c.264A>T (p.Thr88=)
c.747A>T (p.Thr249=)
c.462A>T (p.Thr154=)
c.285-15951T>A (n.285-15951T>A)
c.266-355A>T (n.266-355A>T)
c.342A>T (p.Thr114=)
n.2278A>T
c.631A>T
c.514A>T
16g.72060309G>ACA396677189HP,TXNL4Bc.640G>A (p.Ala214Thr)
c.265G>A (p.Ala89Thr)
c.748G>A (p.Ala250Thr)
c.463G>A (p.Ala155Thr)
c.285-15952C>T (n.285-15952C>T)
c.266-354G>A (n.266-354G>A)
c.343G>A (p.Ala115Thr)
n.2279G>A
c.632G>A
c.515G>A
16g.72060309G>CCA396677192HP,TXNL4Bc.640G>C (p.Ala214Pro)
c.265G>C (p.Ala89Pro)
c.748G>C (p.Ala250Pro)
c.463G>C (p.Ala155Pro)
c.285-15952C>G (n.285-15952C>G)
c.266-354G>C (n.266-354G>C)
c.343G>C (p.Ala115Pro)
n.2279G>C
c.632G>C
c.515G>C
16g.72060309G>TCA396677194HP,TXNL4Bc.640G>T (p.Ala214Ser)
c.265G>T (p.Ala89Ser)
c.748G>T (p.Ala250Ser)
c.463G>T (p.Ala155Ser)
c.285-15952C>A (n.285-15952C>A)
c.266-354G>T (n.266-354G>T)
c.343G>T (p.Ala115Ser)
n.2279G>T
c.632G>T
c.515G>T
16g.72060310delCA2576057060HP,TXNL4Bc.641del (p.Ala214GlyfsTer8)
c.266del (p.Ala89GlyfsTer8)
c.749del (p.Ala250GlyfsTer8)
c.464del (p.Ala155GlyfsTer8)
c.285-15953del (n.285-15953del)
c.266-353del (n.266-353del)
c.344del (p.Ala115GlyfsTer8)
n.2280del
c.633del
c.516del
 gnomAD v4
16g.72060310C>ACA396677197HP,TXNL4Bc.641C>A (p.Ala214Glu)
c.266C>A (p.Ala89Glu)
c.749C>A (p.Ala250Glu)
c.464C>A (p.Ala155Glu)
c.285-15953G>T (n.285-15953G>T)
c.266-353C>A (n.266-353C>A)
c.344C>A (p.Ala115Glu)
n.2280C>A
c.633C>A
c.516C>A
16g.72060310C=CA2231555201HP,TXNL4Bc.641C= (p.Ala214=)
c.266C= (p.Ala89=)
c.749C= (p.Ala250=)
c.464C= (p.Ala155=)
c.285-15953G= (n.285-15953G=)
c.266-353C= (n.266-353C=)
c.344C= (p.Ala115=)
n.2280C=
c.633C=
c.516C=
16g.72060310C>GCA396677199HP,TXNL4Bc.641C>G (p.Ala214Gly)
c.266C>G (p.Ala89Gly)
c.749C>G (p.Ala250Gly)
c.464C>G (p.Ala155Gly)
c.285-15953G>C (n.285-15953G>C)
c.266-353C>G (n.266-353C>G)
c.344C>G (p.Ala115Gly)
n.2280C>G
c.633C>G
c.516C>G
16g.72060310C>TCA8159155HP,TXNL4Bc.641C>T (p.Ala214Val)
c.266C>T (p.Ala89Val)
c.749C>T (p.Ala250Val)
c.464C>T (p.Ala155Val)
c.285-15953G>A (n.285-15953G>A)
c.266-353C>T (n.266-353C>T)
c.344C>T (p.Ala115Val)
n.2280C>T
c.633C>T
c.516C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060311G>ACA8159156HP,TXNL4Bc.642G>A (p.Ala214=)
c.267G>A (p.Ala89=)
c.750G>A (p.Ala250=)
c.465G>A (p.Ala155=)
c.285-15954C>T (n.285-15954C>T)
c.266-352G>A (n.266-352G>A)
c.345G>A (p.Ala115=)
n.2281G>A
c.634G>A
c.517G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.72060311G>CCA496414847HP,TXNL4Bc.642G>C (p.Ala214=)
c.267G>C (p.Ala89=)
c.750G>C (p.Ala250=)
c.465G>C (p.Ala155=)
c.285-15954C>G (n.285-15954C>G)
c.266-352G>C (n.266-352G>C)
c.345G>C (p.Ala115=)
n.2281G>C
c.634G>C
c.517G>C
16g.72060311G=CA2231555202HP,TXNL4Bc.642G= (p.Ala214=)
c.267G= (p.Ala89=)
c.750G= (p.Ala250=)
c.465G= (p.Ala155=)
c.285-15954C= (n.285-15954C=)
c.266-352G= (n.266-352G=)
c.345G= (p.Ala115=)
n.2281G=
c.634G=
c.517G=
16g.72060311G>TCA496414848HP,TXNL4Bc.642G>T (p.Ala214=)
c.267G>T (p.Ala89=)
c.750G>T (p.Ala250=)
c.465G>T (p.Ala155=)
c.285-15954C>A (n.285-15954C>A)
c.266-352G>T (n.266-352G>T)
c.345G>T (p.Ala115=)
n.2281G>T
c.634G>T
c.517G>T
16g.72060312A>CCA396677203HP,TXNL4Bc.643A>C (p.Lys215Gln)
c.268A>C (p.Lys90Gln)
c.751A>C (p.Lys251Gln)
c.466A>C (p.Lys156Gln)
c.285-15955T>G (n.285-15955T>G)
c.266-351A>C (n.266-351A>C)
c.346A>C (p.Lys116Gln)
n.2282A>C
c.635A>C
c.518A>C
16g.72060312A>GCA396677205HP,TXNL4Bc.643A>G (p.Lys215Glu)
c.268A>G (p.Lys90Glu)
c.751A>G (p.Lys251Glu)
c.466A>G (p.Lys156Glu)
c.285-15955T>C (n.285-15955T>C)
c.266-351A>G (n.266-351A>G)
c.346A>G (p.Lys116Glu)
n.2282A>G
c.635A>G
c.518A>G
16g.72060312A>TCA396677209HP,TXNL4Bc.643A>T (p.Lys215Ter)
c.268A>T (p.Lys90Ter)
c.751A>T (p.Lys251Ter)
c.466A>T (p.Lys156Ter)
c.285-15955T>A (n.285-15955T>A)
c.266-351A>T (n.266-351A>T)
c.346A>T (p.Lys116Ter)
n.2282A>T
c.635A>T
c.518A>T
16g.72060314dupCA2576057061HP,TXNL4Bc.645dup (p.Asp216ArgfsTer19)
c.270dup (p.Asp91ArgfsTer19)
c.753dup (p.Asp252ArgfsTer19)
c.468dup (p.Asp157ArgfsTer19)
c.285-15955dup (n.285-15955dup)
c.266-349dup (n.266-349dup)
c.348dup (p.Asp117ArgfsTer19)
n.2284dup
c.637dup
c.520dup
16g.72060313A>CCA396677212HP,TXNL4Bc.644A>C (p.Lys215Thr)
c.269A>C (p.Lys90Thr)
c.752A>C (p.Lys251Thr)
c.467A>C (p.Lys156Thr)
c.285-15956T>G (n.285-15956T>G)
c.266-350A>C (n.266-350A>C)
c.347A>C (p.Lys116Thr)
n.2283A>C
c.636A>C
c.519A>C
16g.72060313A>GCA396677213HP,TXNL4Bc.644A>G (p.Lys215Arg)
c.269A>G (p.Lys90Arg)
c.752A>G (p.Lys251Arg)
c.467A>G (p.Lys156Arg)
c.285-15956T>C (n.285-15956T>C)
c.266-350A>G (n.266-350A>G)
c.347A>G (p.Lys116Arg)
n.2283A>G
c.636A>G
c.519A>G
16g.72060313A>TCA396677215HP,TXNL4Bc.644A>T (p.Lys215Ile)
c.269A>T (p.Lys90Ile)
c.752A>T (p.Lys251Ile)
c.467A>T (p.Lys156Ile)
c.285-15956T>A (n.285-15956T>A)
c.266-350A>T (n.266-350A>T)
c.347A>T (p.Lys116Ile)
n.2283A>T
c.636A>T
c.519A>T
16g.72060314A>CCA396677218HP,TXNL4Bc.645A>C (p.Lys215Asn)
c.270A>C (p.Lys90Asn)
c.753A>C (p.Lys251Asn)
c.468A>C (p.Lys156Asn)
c.285-15957T>G (n.285-15957T>G)
c.266-349A>C (n.266-349A>C)
c.348A>C (p.Lys116Asn)
n.2284A>C
c.637A>C
c.520A>C
16g.72060314A>GCA496414849HP,TXNL4Bc.645A>G (p.Lys215=)
c.270A>G (p.Lys90=)
c.753A>G (p.Lys251=)
c.468A>G (p.Lys156=)
c.285-15957T>C (n.285-15957T>C)
c.266-349A>G (n.266-349A>G)
c.348A>G (p.Lys116=)
n.2284A>G
c.637A>G
c.520A>G
 dbSNP gnomAD v4
16g.72060314A>TCA396677221HP,TXNL4Bc.645A>T (p.Lys215Asn)
c.270A>T (p.Lys90Asn)
c.753A>T (p.Lys251Asn)
c.468A>T (p.Lys156Asn)
c.285-15957T>A (n.285-15957T>A)
c.266-349A>T (n.266-349A>T)
c.348A>T (p.Lys116Asn)
n.2284A>T
c.637A>T
c.520A>T
16g.72060315G>ACA396677224HP,TXNL4Bc.646G>A (p.Asp216Asn)
c.271G>A (p.Asp91Asn)
c.754G>A (p.Asp252Asn)
c.469G>A (p.Asp157Asn)
c.285-15958C>T (n.285-15958C>T)
c.266-348G>A (n.266-348G>A)
c.349G>A (p.Asp117Asn)
n.2285G>A
c.638G>A
c.521G>A
16g.72060315G>CCA396677226HP,TXNL4Bc.646G>C (p.Asp216His)
c.271G>C (p.Asp91His)
c.754G>C (p.Asp252His)
c.469G>C (p.Asp157His)
c.285-15958C>G (n.285-15958C>G)
c.266-348G>C (n.266-348G>C)
c.349G>C (p.Asp117His)
n.2285G>C
c.638G>C
c.521G>C
 gnomAD v4
16g.72060315G>TCA396677229HP,TXNL4Bc.646G>T (p.Asp216Tyr)
c.271G>T (p.Asp91Tyr)
c.754G>T (p.Asp252Tyr)
c.469G>T (p.Asp157Tyr)
c.285-15958C>A (n.285-15958C>A)
c.266-348G>T (n.266-348G>T)
c.349G>T (p.Asp117Tyr)
n.2285G>T
c.638G>T
c.521G>T
16g.72060316A>CCA396677231HP,TXNL4Bc.647A>C (p.Asp216Ala)
c.272A>C (p.Asp91Ala)
c.755A>C (p.Asp252Ala)
c.470A>C (p.Asp157Ala)
c.285-15959T>G (n.285-15959T>G)
c.266-347A>C (n.266-347A>C)
c.350A>C (p.Asp117Ala)
n.2286A>C
c.639A>C
c.522A>C
16g.72060316A>GCA396677233HP,TXNL4Bc.647A>G (p.Asp216Gly)
c.272A>G (p.Asp91Gly)
c.755A>G (p.Asp252Gly)
c.470A>G (p.Asp157Gly)
c.285-15959T>C (n.285-15959T>C)
c.266-347A>G (n.266-347A>G)
c.350A>G (p.Asp117Gly)
n.2286A>G
c.639A>G
c.522A>G
 gnomAD v4
16g.72060316A>TCA396677234HP,TXNL4Bc.647A>T (p.Asp216Val)
c.272A>T (p.Asp91Val)
c.755A>T (p.Asp252Val)
c.470A>T (p.Asp157Val)
c.285-15959T>A (n.285-15959T>A)
c.266-347A>T (n.266-347A>T)
c.350A>T (p.Asp117Val)
n.2286A>T
c.639A>T
c.522A>T
16g.72060317C>ACA396677237HP,TXNL4Bc.648C>A (p.Asp216Glu)
c.273C>A (p.Asp91Glu)
c.756C>A (p.Asp252Glu)
c.471C>A (p.Asp157Glu)
c.285-15960G>T (n.285-15960G>T)
c.266-346C>A (n.266-346C>A)
c.351C>A (p.Asp117Glu)
n.2287C>A
c.640C>A
c.523C>A
16g.72060317C>GCA396677238HP,TXNL4Bc.648C>G (p.Asp216Glu)
c.273C>G (p.Asp91Glu)
c.756C>G (p.Asp252Glu)
c.471C>G (p.Asp157Glu)
c.285-15960G>C (n.285-15960G>C)
c.266-346C>G (n.266-346C>G)
c.351C>G (p.Asp117Glu)
n.2287C>G
c.640C>G
c.523C>G
16g.72060317C>TCA496414851HP,TXNL4Bc.648C>T (p.Asp216=)
c.273C>T (p.Asp91=)
c.756C>T (p.Asp252=)
c.471C>T (p.Asp157=)
c.285-15960G>A (n.285-15960G>A)
c.266-346C>T (n.266-346C>T)
c.351C>T (p.Asp117=)
n.2287C>T
c.640C>T
c.523C>T
16g.72060318A=CA2231555203HP,TXNL4Bc.649A= (p.Ile217=)
c.274A= (p.Ile92=)
c.757A= (p.Ile253=)
c.472A= (p.Ile158=)
c.285-15961T= (n.285-15961T=)
c.266-345A= (n.266-345A=)
c.352A= (p.Ile118=)
n.2288A=
c.641A=
c.524A=
16g.72060318A>CCA396677240HP,TXNL4Bc.649A>C (p.Ile217Leu)
c.274A>C (p.Ile92Leu)
c.757A>C (p.Ile253Leu)
c.472A>C (p.Ile158Leu)
c.285-15961T>G (n.285-15961T>G)
c.266-345A>C (n.266-345A>C)
c.352A>C (p.Ile118Leu)
n.2288A>C
c.641A>C
c.524A>C
16g.72060318A>GCA8159157HP,TXNL4Bc.649A>G (p.Ile217Val)
c.274A>G (p.Ile92Val)
c.757A>G (p.Ile253Val)
c.472A>G (p.Ile158Val)
c.285-15961T>C (n.285-15961T>C)
c.266-345A>G (n.266-345A>G)
c.352A>G (p.Ile118Val)
n.2288A>G
c.641A>G
c.524A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060318A>TCA396677242HP,TXNL4Bc.649A>T (p.Ile217Phe)
c.274A>T (p.Ile92Phe)
c.757A>T (p.Ile253Phe)
c.472A>T (p.Ile158Phe)
c.285-15961T>A (n.285-15961T>A)
c.266-345A>T (n.266-345A>T)
c.352A>T (p.Ile118Phe)
n.2288A>T
c.641A>T
c.524A>T
16g.72060319T>ACA396677243HP,TXNL4Bc.650T>A (p.Ile217Asn)
c.275T>A (p.Ile92Asn)
c.758T>A (p.Ile253Asn)
c.473T>A (p.Ile158Asn)
c.285-15962A>T (n.285-15962A>T)
c.266-344T>A (n.266-344T>A)
c.353T>A (p.Ile118Asn)
n.2289T>A
c.642T>A
c.525T>A
16g.72060319T>CCA8159158HP,TXNL4Bc.650T>C (p.Ile217Thr)
c.275T>C (p.Ile92Thr)
c.758T>C (p.Ile253Thr)
c.473T>C (p.Ile158Thr)
c.285-15962A>G (n.285-15962A>G)
c.266-344T>C (n.266-344T>C)
c.353T>C (p.Ile118Thr)
n.2289T>C
c.642T>C
c.525T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060319T>GCA396677244HP,TXNL4Bc.650T>G (p.Ile217Ser)
c.275T>G (p.Ile92Ser)
c.758T>G (p.Ile253Ser)
c.473T>G (p.Ile158Ser)
c.285-15962A>C (n.285-15962A>C)
c.266-344T>G (n.266-344T>G)
c.353T>G (p.Ile118Ser)
n.2289T>G
c.642T>G
c.525T>G
16g.72060319T=CA2231555204HP,TXNL4Bc.650T= (p.Ile217=)
c.275T= (p.Ile92=)
c.758T= (p.Ile253=)
c.473T= (p.Ile158=)
c.285-15962A= (n.285-15962A=)
c.266-344T= (n.266-344T=)
c.353T= (p.Ile118=)
n.2289T=
c.642T=
c.525T=
16g.72060320T>ACA496414853HP,TXNL4Bc.651T>A (p.Ile217=)
c.276T>A (p.Ile92=)
c.759T>A (p.Ile253=)
c.474T>A (p.Ile158=)
c.285-15963A>T (n.285-15963A>T)
c.266-343T>A (n.266-343T>A)
c.354T>A (p.Ile118=)
n.2290T>A
c.643T>A
c.526T>A
16g.72060320T>CCA496414854HP,TXNL4Bc.651T>C (p.Ile217=)
c.276T>C (p.Ile92=)
c.759T>C (p.Ile253=)
c.474T>C (p.Ile158=)
c.285-15963A>G (n.285-15963A>G)
c.266-343T>C (n.266-343T>C)
c.354T>C (p.Ile118=)
n.2290T>C
c.643T>C
c.526T>C
 gnomAD v4
16g.72060320T>GCA396677246HP,TXNL4Bc.651T>G (p.Ile217Met)
c.276T>G (p.Ile92Met)
c.759T>G (p.Ile253Met)
c.474T>G (p.Ile158Met)
c.285-15963A>C (n.285-15963A>C)
c.266-343T>G (n.266-343T>G)
c.354T>G (p.Ile118Met)
n.2290T>G
c.643T>G
c.526T>G

Number of alleles fetched