Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.72059151_72063259delCA645372599TXNL4Bc.285-18901_285-14793del (n.285-18901_285-14793del)
 ClinVar
16g.72060321G>ACA396677248HP,TXNL4Bc.652G>A (p.Ala218Thr)
c.277G>A (p.Ala93Thr)
c.760G>A (p.Ala254Thr)
c.475G>A (p.Ala159Thr)
c.285-15964C>T (n.285-15964C>T)
c.266-342G>A (n.266-342G>A)
c.355G>A (p.Ala119Thr)
n.2291G>A
c.644G>A
c.527G>A
 gnomAD v4
16g.72060321G>CCA396677250HP,TXNL4Bc.652G>C (p.Ala218Pro)
c.277G>C (p.Ala93Pro)
c.760G>C (p.Ala254Pro)
c.475G>C (p.Ala159Pro)
c.285-15964C>G (n.285-15964C>G)
c.266-342G>C (n.266-342G>C)
c.355G>C (p.Ala119Pro)
n.2291G>C
c.644G>C
c.527G>C
16g.72060321G>TCA396677252HP,TXNL4Bc.652G>T (p.Ala218Ser)
c.277G>T (p.Ala93Ser)
c.760G>T (p.Ala254Ser)
c.475G>T (p.Ala159Ser)
c.285-15964C>A (n.285-15964C>A)
c.266-342G>T (n.266-342G>T)
c.355G>T (p.Ala119Ser)
n.2291G>T
c.644G>T
c.527G>T
16g.72060322C>ACA8159160HP,TXNL4Bc.653C>A (p.Ala218Asp)
c.278C>A (p.Ala93Asp)
c.761C>A (p.Ala254Asp)
c.476C>A (p.Ala159Asp)
c.285-15965G>T (n.285-15965G>T)
c.266-341C>A (n.266-341C>A)
c.356C>A (p.Ala119Asp)
n.2292C>A
c.645C>A
c.528C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060322C=CA2231555205HP,TXNL4Bc.653C= (p.Ala218=)
c.278C= (p.Ala93=)
c.761C= (p.Ala254=)
c.476C= (p.Ala159=)
c.285-15965G= (n.285-15965G=)
c.266-341C= (n.266-341C=)
c.356C= (p.Ala119=)
n.2292C=
c.645C=
c.528C=
16g.72060322C>GCA396677253HP,TXNL4Bc.653C>G (p.Ala218Gly)
c.278C>G (p.Ala93Gly)
c.761C>G (p.Ala254Gly)
c.476C>G (p.Ala159Gly)
c.285-15965G>C (n.285-15965G>C)
c.266-341C>G (n.266-341C>G)
c.356C>G (p.Ala119Gly)
n.2292C>G
c.645C>G
c.528C>G
16g.72060322C>TCA8159159HP,TXNL4Bc.653C>T (p.Ala218Val)
c.278C>T (p.Ala93Val)
c.761C>T (p.Ala254Val)
c.476C>T (p.Ala159Val)
c.285-15965G>A (n.285-15965G>A)
c.266-341C>T (n.266-341C>T)
c.356C>T (p.Ala119Val)
n.2292C>T
c.645C>T
c.528C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060323C>ACA496414855HP,TXNL4Bc.654C>A (p.Ala218=)
c.279C>A (p.Ala93=)
c.762C>A (p.Ala254=)
c.477C>A (p.Ala159=)
c.285-15966G>T (n.285-15966G>T)
c.266-340C>A (n.266-340C>A)
c.357C>A (p.Ala119=)
n.2293C>A
c.646C>A
c.529C>A
16g.72060323C=CA2231555206HP,TXNL4Bc.654C= (p.Ala218=)
c.279C= (p.Ala93=)
c.762C= (p.Ala254=)
c.477C= (p.Ala159=)
c.285-15966G= (n.285-15966G=)
c.266-340C= (n.266-340C=)
c.357C= (p.Ala119=)
n.2293C=
c.646C=
c.529C=
16g.72060323C>GCA496414856HP,TXNL4Bc.654C>G (p.Ala218=)
c.279C>G (p.Ala93=)
c.762C>G (p.Ala254=)
c.477C>G (p.Ala159=)
c.285-15966G>C (n.285-15966G>C)
c.266-340C>G (n.266-340C>G)
c.357C>G (p.Ala119=)
n.2293C>G
c.646C>G
c.529C>G
 dbSNP
16g.72060323C>TCA496414857HP,TXNL4Bc.654C>T (p.Ala218=)
c.279C>T (p.Ala93=)
c.762C>T (p.Ala254=)
c.477C>T (p.Ala159=)
c.285-15966G>A (n.285-15966G>A)
c.266-340C>T (n.266-340C>T)
c.357C>T (p.Ala119=)
n.2293C>T
c.646C>T
c.529C>T
 gnomAD v4
16g.72060324C>ACA396677260HP,TXNL4Bc.655C>A (p.Pro219Thr)
c.280C>A (p.Pro94Thr)
c.763C>A (p.Pro255Thr)
c.478C>A (p.Pro160Thr)
c.285-15967G>T (n.285-15967G>T)
c.266-339C>A (n.266-339C>A)
c.358C>A (p.Pro120Thr)
n.2294C>A
c.647C>A
c.530C>A
16g.72060324C>GCA396677257HP,TXNL4Bc.655C>G (p.Pro219Ala)
c.280C>G (p.Pro94Ala)
c.763C>G (p.Pro255Ala)
c.478C>G (p.Pro160Ala)
c.285-15967G>C (n.285-15967G>C)
c.266-339C>G (n.266-339C>G)
c.358C>G (p.Pro120Ala)
n.2294C>G
c.647C>G
c.530C>G
16g.72060324C>TCA396677258HP,TXNL4Bc.655C>T (p.Pro219Ser)
c.280C>T (p.Pro94Ser)
c.763C>T (p.Pro255Ser)
c.478C>T (p.Pro160Ser)
c.285-15967G>A (n.285-15967G>A)
c.266-339C>T (n.266-339C>T)
c.358C>T (p.Pro120Ser)
n.2294C>T
c.647C>T
c.530C>T
 gnomAD v4
16g.72060325C>ACA396677262HP,TXNL4Bc.656C>A (p.Pro219His)
c.281C>A (p.Pro94His)
c.764C>A (p.Pro255His)
c.479C>A (p.Pro160His)
c.285-15968G>T (n.285-15968G>T)
c.266-338C>A (n.266-338C>A)
c.359C>A (p.Pro120His)
n.2295C>A
c.648C>A
c.531C>A
16g.72060325C>GCA396677264HP,TXNL4Bc.656C>G (p.Pro219Arg)
c.281C>G (p.Pro94Arg)
c.764C>G (p.Pro255Arg)
c.479C>G (p.Pro160Arg)
c.285-15968G>C (n.285-15968G>C)
c.266-338C>G (n.266-338C>G)
c.359C>G (p.Pro120Arg)
n.2295C>G
c.648C>G
c.531C>G
16g.72060325C>TCA396677265HP,TXNL4Bc.656C>T (p.Pro219Leu)
c.281C>T (p.Pro94Leu)
c.764C>T (p.Pro255Leu)
c.479C>T (p.Pro160Leu)
c.285-15968G>A (n.285-15968G>A)
c.266-338C>T (n.266-338C>T)
c.359C>T (p.Pro120Leu)
n.2295C>T
c.648C>T
c.531C>T
 gnomAD v4
16g.72060326T>ACA496414858HP,TXNL4Bc.657T>A (p.Pro219=)
c.282T>A (p.Pro94=)
c.765T>A (p.Pro255=)
c.480T>A (p.Pro160=)
c.285-15969A>T (n.285-15969A>T)
c.266-337T>A (n.266-337T>A)
c.360T>A (p.Pro120=)
n.2296T>A
c.649T>A
c.532T>A
16g.72060326T>CCA496414859HP,TXNL4Bc.657T>C (p.Pro219=)
c.282T>C (p.Pro94=)
c.765T>C (p.Pro255=)
c.480T>C (p.Pro160=)
c.285-15969A>G (n.285-15969A>G)
c.266-337T>C (n.266-337T>C)
c.360T>C (p.Pro120=)
n.2296T>C
c.649T>C
c.532T>C
16g.72060326T>GCA496414860HP,TXNL4Bc.657T>G (p.Pro219=)
c.282T>G (p.Pro94=)
c.765T>G (p.Pro255=)
c.480T>G (p.Pro160=)
c.285-15969A>C (n.285-15969A>C)
c.266-337T>G (n.266-337T>G)
c.360T>G (p.Pro120=)
n.2296T>G
c.649T>G
c.532T>G
16g.72060327A>CCA396677267HP,TXNL4Bc.658A>C (p.Thr220Pro)
c.283A>C (p.Thr95Pro)
c.766A>C (p.Thr256Pro)
c.481A>C (p.Thr161Pro)
c.285-15970T>G (n.285-15970T>G)
c.266-336A>C (n.266-336A>C)
c.361A>C (p.Thr121Pro)
n.2297A>C
c.650A>C
c.533A>C
 gnomAD v4
16g.72060327A>GCA396677269HP,TXNL4Bc.658A>G (p.Thr220Ala)
c.283A>G (p.Thr95Ala)
c.766A>G (p.Thr256Ala)
c.481A>G (p.Thr161Ala)
c.285-15970T>C (n.285-15970T>C)
c.266-336A>G (n.266-336A>G)
c.361A>G (p.Thr121Ala)
n.2297A>G
c.650A>G
c.533A>G
16g.72060327A>TCA396677271HP,TXNL4Bc.658A>T (p.Thr220Ser)
c.283A>T (p.Thr95Ser)
c.766A>T (p.Thr256Ser)
c.481A>T (p.Thr161Ser)
c.285-15970T>A (n.285-15970T>A)
c.266-336A>T (n.266-336A>T)
c.361A>T (p.Thr121Ser)
n.2297A>T
c.650A>T
c.533A>T
16g.72060328C>ACA8159161HP,TXNL4Bc.659C>A (p.Thr220Asn)
c.284C>A (p.Thr95Asn)
c.767C>A (p.Thr256Asn)
c.482C>A (p.Thr161Asn)
c.285-15971G>T (n.285-15971G>T)
c.266-335C>A (n.266-335C>A)
c.362C>A (p.Thr121Asn)
n.2298C>A
c.651C>A
c.534C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060328C=CA2231555207HP,TXNL4Bc.659C= (p.Thr220=)
c.284C= (p.Thr95=)
c.767C= (p.Thr256=)
c.482C= (p.Thr161=)
c.285-15971G= (n.285-15971G=)
c.266-335C= (n.266-335C=)
c.362C= (p.Thr121=)
n.2298C=
c.651C=
c.534C=
16g.72060328C>GCA396677274HP,TXNL4Bc.659C>G (p.Thr220Ser)
c.284C>G (p.Thr95Ser)
c.767C>G (p.Thr256Ser)
c.482C>G (p.Thr161Ser)
c.285-15971G>C (n.285-15971G>C)
c.266-335C>G (n.266-335C>G)
c.362C>G (p.Thr121Ser)
n.2298C>G
c.651C>G
c.534C>G
16g.72060328C>TCA8159162HP,TXNL4Bc.659C>T (p.Thr220Ile)
c.284C>T (p.Thr95Ile)
c.767C>T (p.Thr256Ile)
c.482C>T (p.Thr161Ile)
c.285-15971G>A (n.285-15971G>A)
c.266-335C>T (n.266-335C>T)
c.362C>T (p.Thr121Ile)
n.2298C>T
c.651C>T
c.534C>T
 dbSNP ExAC gnomAD v3 gnomAD v4
16g.72060329T>ACA496414861HP,TXNL4Bc.660T>A (p.Thr220=)
c.285T>A (p.Thr95=)
c.768T>A (p.Thr256=)
c.483T>A (p.Thr161=)
c.285-15972A>T (n.285-15972A>T)
c.266-334T>A (n.266-334T>A)
c.363T>A (p.Thr121=)
n.2299T>A
c.652T>A
c.535T>A
16g.72060329T>CCA496414862HP,TXNL4Bc.660T>C (p.Thr220=)
c.285T>C (p.Thr95=)
c.768T>C (p.Thr256=)
c.483T>C (p.Thr161=)
c.285-15972A>G (n.285-15972A>G)
c.266-334T>C (n.266-334T>C)
c.363T>C (p.Thr121=)
n.2299T>C
c.652T>C
c.535T>C
16g.72060329T>GCA496414863HP,TXNL4Bc.660T>G (p.Thr220=)
c.285T>G (p.Thr95=)
c.768T>G (p.Thr256=)
c.483T>G (p.Thr161=)
c.285-15972A>C (n.285-15972A>C)
c.266-334T>G (n.266-334T>G)
c.363T>G (p.Thr121=)
n.2299T>G
c.652T>G
c.535T>G
16g.72060330T>ACA396677276HP,TXNL4Bc.661T>A (p.Leu221Ile)
c.286T>A (p.Leu96Ile)
c.769T>A (p.Leu257Ile)
c.484T>A (p.Leu162Ile)
c.285-15973A>T (n.285-15973A>T)
c.266-333T>A (n.266-333T>A)
c.364T>A (p.Leu122Ile)
n.2300T>A
c.653T>A
c.536T>A
16g.72060330T>CCA496414864HP,TXNL4Bc.661T>C (p.Leu221=)
c.286T>C (p.Leu96=)
c.769T>C (p.Leu257=)
c.484T>C (p.Leu162=)
c.285-15973A>G (n.285-15973A>G)
c.266-333T>C (n.266-333T>C)
c.364T>C (p.Leu122=)
n.2300T>C
c.653T>C
c.536T>C
16g.72060330T>GCA396677277HP,TXNL4Bc.661T>G (p.Leu221Val)
c.286T>G (p.Leu96Val)
c.769T>G (p.Leu257Val)
c.484T>G (p.Leu162Val)
c.285-15973A>C (n.285-15973A>C)
c.266-333T>G (n.266-333T>G)
c.364T>G (p.Leu122Val)
n.2300T>G
c.653T>G
c.536T>G
16g.72060331T>ACA396677279HP,TXNL4Bc.662T>A (p.Leu221Ter)
c.287T>A (p.Leu96Ter)
c.770T>A (p.Leu257Ter)
c.485T>A (p.Leu162Ter)
c.285-15974A>T (n.285-15974A>T)
c.266-332T>A (n.266-332T>A)
c.365T>A (p.Leu122Ter)
n.2301T>A
c.654T>A
c.537T>A
16g.72060331T>CCA396677281HP,TXNL4Bc.662T>C (p.Leu221Ser)
c.287T>C (p.Leu96Ser)
c.770T>C (p.Leu257Ser)
c.485T>C (p.Leu162Ser)
c.285-15974A>G (n.285-15974A>G)
c.266-332T>C (n.266-332T>C)
c.365T>C (p.Leu122Ser)
n.2301T>C
c.654T>C
c.537T>C
16g.72060331T>GCA396677282HP,TXNL4Bc.662T>G (p.Leu221Ter)
c.287T>G (p.Leu96Ter)
c.770T>G (p.Leu257Ter)
c.485T>G (p.Leu162Ter)
c.285-15974A>C (n.285-15974A>C)
c.266-332T>G (n.266-332T>G)
c.365T>G (p.Leu122Ter)
n.2301T>G
c.654T>G
c.537T>G
16g.72060332A>CCA396677286HP,TXNL4Bc.663A>C (p.Leu221Phe)
c.288A>C (p.Leu96Phe)
c.771A>C (p.Leu257Phe)
c.486A>C (p.Leu162Phe)
c.285-15975T>G (n.285-15975T>G)
c.266-331A>C (n.266-331A>C)
c.366A>C (p.Leu122Phe)
n.2302A>C
c.655A>C
c.538A>C
16g.72060332A>GCA496414865HP,TXNL4Bc.663A>G (p.Leu221=)
c.288A>G (p.Leu96=)
c.771A>G (p.Leu257=)
c.486A>G (p.Leu162=)
c.285-15975T>C (n.285-15975T>C)
c.266-331A>G (n.266-331A>G)
c.366A>G (p.Leu122=)
n.2302A>G
c.655A>G
c.538A>G
16g.72060332A>TCA396677284HP,TXNL4Bc.663A>T (p.Leu221Phe)
c.288A>T (p.Leu96Phe)
c.771A>T (p.Leu257Phe)
c.486A>T (p.Leu162Phe)
c.285-15975T>A (n.285-15975T>A)
c.266-331A>T (n.266-331A>T)
c.366A>T (p.Leu122Phe)
n.2302A>T
c.655A>T
c.538A>T
16g.72060333A=CA2231555208HP,TXNL4Bc.664A= (p.Thr222=)
c.289A= (p.Thr97=)
c.772A= (p.Thr258=)
c.487A= (p.Thr163=)
c.285-15976T= (n.285-15976T=)
c.266-330A= (n.266-330A=)
c.367A= (p.Thr123=)
n.2303A=
c.656A=
c.539A=
16g.72060333A>CCA8159163HP,TXNL4Bc.664A>C (p.Thr222Pro)
c.289A>C (p.Thr97Pro)
c.772A>C (p.Thr258Pro)
c.487A>C (p.Thr163Pro)
c.285-15976T>G (n.285-15976T>G)
c.266-330A>C (n.266-330A>C)
c.367A>C (p.Thr123Pro)
n.2303A>C
c.656A>C
c.539A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060333A>GCA396677289HP,TXNL4Bc.664A>G (p.Thr222Ala)
c.289A>G (p.Thr97Ala)
c.772A>G (p.Thr258Ala)
c.487A>G (p.Thr163Ala)
c.285-15976T>C (n.285-15976T>C)
c.266-330A>G (n.266-330A>G)
c.367A>G (p.Thr123Ala)
n.2303A>G
c.656A>G
c.539A>G
16g.72060333A>TCA396677291HP,TXNL4Bc.664A>T (p.Thr222Ser)
c.289A>T (p.Thr97Ser)
c.772A>T (p.Thr258Ser)
c.487A>T (p.Thr163Ser)
c.285-15976T>A (n.285-15976T>A)
c.266-330A>T (n.266-330A>T)
c.367A>T (p.Thr123Ser)
n.2303A>T
c.656A>T
c.539A>T
16g.72060334C>ACA396677298HP,TXNL4Bc.665C>A (p.Thr222Lys)
c.290C>A (p.Thr97Lys)
c.773C>A (p.Thr258Lys)
c.488C>A (p.Thr163Lys)
c.285-15977G>T (n.285-15977G>T)
c.266-329C>A (n.266-329C>A)
c.368C>A (p.Thr123Lys)
n.2304C>A
c.657C>A
c.540C>A
16g.72060334C>GCA396677299HP,TXNL4Bc.665C>G (p.Thr222Arg)
c.290C>G (p.Thr97Arg)
c.773C>G (p.Thr258Arg)
c.488C>G (p.Thr163Arg)
c.285-15977G>C (n.285-15977G>C)
c.266-329C>G (n.266-329C>G)
c.368C>G (p.Thr123Arg)
n.2304C>G
c.657C>G
c.540C>G
16g.72060334C>TCA396677300HP,TXNL4Bc.665C>T (p.Thr222Ile)
c.290C>T (p.Thr97Ile)
c.773C>T (p.Thr258Ile)
c.488C>T (p.Thr163Ile)
c.285-15977G>A (n.285-15977G>A)
c.266-329C>T (n.266-329C>T)
c.368C>T (p.Thr123Ile)
n.2304C>T
c.657C>T
c.540C>T
16g.72060335A>CCA496414868HP,TXNL4Bc.666A>C (p.Thr222=)
c.291A>C (p.Thr97=)
c.774A>C (p.Thr258=)
c.489A>C (p.Thr163=)
c.285-15978T>G (n.285-15978T>G)
c.266-328A>C (n.266-328A>C)
c.369A>C (p.Thr123=)
n.2305A>C
c.658A>C
c.541A>C
16g.72060335A>GCA496414866HP,TXNL4Bc.666A>G (p.Thr222=)
c.291A>G (p.Thr97=)
c.774A>G (p.Thr258=)
c.489A>G (p.Thr163=)
c.285-15978T>C (n.285-15978T>C)
c.266-328A>G (n.266-328A>G)
c.369A>G (p.Thr123=)
n.2305A>G
c.658A>G
c.541A>G
16g.72060335A>TCA496414867HP,TXNL4Bc.666A>T (p.Thr222=)
c.291A>T (p.Thr97=)
c.774A>T (p.Thr258=)
c.489A>T (p.Thr163=)
c.285-15978T>A (n.285-15978T>A)
c.266-328A>T (n.266-328A>T)
c.369A>T (p.Thr123=)
n.2305A>T
c.658A>T
c.541A>T
16g.72060336C>ACA396677302HP,TXNL4Bc.667C>A (p.Leu223Ile)
c.292C>A (p.Leu98Ile)
c.775C>A (p.Leu259Ile)
c.490C>A (p.Leu164Ile)
c.285-15979G>T (n.285-15979G>T)
c.266-327C>A (n.266-327C>A)
c.370C>A (p.Leu124Ile)
n.2306C>A
c.659C>A
c.542C>A
16g.72060336C>GCA396677303HP,TXNL4Bc.667C>G (p.Leu223Val)
c.292C>G (p.Leu98Val)
c.775C>G (p.Leu259Val)
c.490C>G (p.Leu164Val)
c.285-15979G>C (n.285-15979G>C)
c.266-327C>G (n.266-327C>G)
c.370C>G (p.Leu124Val)
n.2306C>G
c.659C>G
c.542C>G
16g.72060336C>TCA396677305HP,TXNL4Bc.667C>T (p.Leu223Phe)
c.292C>T (p.Leu98Phe)
c.775C>T (p.Leu259Phe)
c.490C>T (p.Leu164Phe)
c.285-15979G>A (n.285-15979G>A)
c.266-327C>T (n.266-327C>T)
c.370C>T (p.Leu124Phe)
n.2306C>T
c.659C>T
c.542C>T
16g.72060338_72060339delCA2634177603HP,TXNL4Bc.669_670del (p.Tyr224CysfsTer10)
c.294_295del (p.Tyr99CysfsTer10)
c.777_778del (p.Tyr260CysfsTer10)
c.492_493del (p.Tyr165CysfsTer10)
c.285-15980_285-15979del (n.285-15980_285-15979del)
c.266-325_266-324del (n.266-325_266-324del)
c.372_373del (p.Tyr125CysfsTer10)
n.2308_2309del
c.661_662del
c.544_545del
 gnomAD v4
16g.72060337T>ACA396677306HP,TXNL4Bc.668T>A (p.Leu223His)
c.293T>A (p.Leu98His)
c.776T>A (p.Leu259His)
c.491T>A (p.Leu164His)
c.285-15980A>T (n.285-15980A>T)
c.266-326T>A (n.266-326T>A)
c.371T>A (p.Leu124His)
n.2307T>A
c.660T>A
c.543T>A
16g.72060337T>CCA396677308HP,TXNL4Bc.668T>C (p.Leu223Pro)
c.293T>C (p.Leu98Pro)
c.776T>C (p.Leu259Pro)
c.491T>C (p.Leu164Pro)
c.285-15980A>G (n.285-15980A>G)
c.266-326T>C (n.266-326T>C)
c.371T>C (p.Leu124Pro)
n.2307T>C
c.660T>C
c.543T>C
 gnomAD v4
16g.72060337T>GCA396677310HP,TXNL4Bc.668T>G (p.Leu223Arg)
c.293T>G (p.Leu98Arg)
c.776T>G (p.Leu259Arg)
c.491T>G (p.Leu164Arg)
c.285-15980A>C (n.285-15980A>C)
c.266-326T>G (n.266-326T>G)
c.371T>G (p.Leu124Arg)
n.2307T>G
c.660T>G
c.543T>G
16g.72060338C>ACA496414869HP,TXNL4Bc.669C>A (p.Leu223=)
c.294C>A (p.Leu98=)
c.777C>A (p.Leu259=)
c.492C>A (p.Leu164=)
c.285-15981G>T (n.285-15981G>T)
c.266-325C>A (n.266-325C>A)
c.372C>A (p.Leu124=)
n.2308C>A
c.661C>A
c.544C>A
16g.72060338C=CA2231555209HP,TXNL4Bc.669C= (p.Leu223=)
c.294C= (p.Leu98=)
c.777C= (p.Leu259=)
c.492C= (p.Leu164=)
c.285-15981G= (n.285-15981G=)
c.266-325C= (n.266-325C=)
c.372C= (p.Leu124=)
n.2308C=
c.661C=
c.544C=
16g.72060338C>GCA8159164HP,TXNL4Bc.669C>G (p.Leu223=)
c.294C>G (p.Leu98=)
c.777C>G (p.Leu259=)
c.492C>G (p.Leu164=)
c.285-15981G>C (n.285-15981G>C)
c.266-325C>G (n.266-325C>G)
c.372C>G (p.Leu124=)
n.2308C>G
c.661C>G
c.544C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060338C>TCA496414870HP,TXNL4Bc.669C>T (p.Leu223=)
c.294C>T (p.Leu98=)
c.777C>T (p.Leu259=)
c.492C>T (p.Leu164=)
c.285-15981G>A (n.285-15981G>A)
c.266-325C>T (n.266-325C>T)
c.372C>T (p.Leu124=)
n.2308C>T
c.661C>T
c.544C>T
 dbSNP gnomAD v3 gnomAD v4
16g.72060338_72060340delinsCTACA2231555210HP,TXNL4Bc.669_671delinsCTA (p.Leu223=)
c.294_296delinsCTA (p.Leu98=)
c.777_779delinsCTA (p.Leu259=)
c.492_494delinsCTA (p.Leu164=)
c.285-15983_285-15981delinsTAG (n.285-15983_285-15981delinsTAG)
c.266-325_266-323delinsCTA (n.266-325_266-323delinsCTA)
c.372_374delinsCTA (p.Leu124=)
n.2308_2310delinsCTA
c.661_663delinsCTA
c.544_546delinsCTA
16g.72060339T>ACA396677313HP,TXNL4Bc.670T>A (p.Tyr224Asn)
c.295T>A (p.Tyr99Asn)
c.778T>A (p.Tyr260Asn)
c.493T>A (p.Tyr165Asn)
c.285-15982A>T (n.285-15982A>T)
c.266-324T>A (n.266-324T>A)
c.373T>A (p.Tyr125Asn)
n.2309T>A
c.662T>A
c.545T>A
16g.72060339T>CCA396677317HP,TXNL4Bc.670T>C (p.Tyr224His)
c.295T>C (p.Tyr99His)
c.778T>C (p.Tyr260His)
c.493T>C (p.Tyr165His)
c.285-15982A>G (n.285-15982A>G)
c.266-324T>C (n.266-324T>C)
c.373T>C (p.Tyr125His)
n.2309T>C
c.662T>C
c.545T>C
16g.72060339T>GCA396677315HP,TXNL4Bc.670T>G (p.Tyr224Asp)
c.295T>G (p.Tyr99Asp)
c.778T>G (p.Tyr260Asp)
c.493T>G (p.Tyr165Asp)
c.285-15982A>C (n.285-15982A>C)
c.266-324T>G (n.266-324T>G)
c.373T>G (p.Tyr125Asp)
n.2309T>G
c.662T>G
c.545T>G
16g.72060340_72060341delCA978811038HP,TXNL4Bc.671_672del (p.Tyr224CysfsTer10)
c.296_297del (p.Tyr99CysfsTer10)
c.779_780del (p.Tyr260CysfsTer10)
c.494_495del (p.Tyr165CysfsTer10)
c.285-15983_285-15982del (n.285-15983_285-15982del)
c.266-323_266-322del (n.266-323_266-322del)
c.374_375del (p.Tyr125CysfsTer10)
n.2310_2311del
c.663_664del
c.546_547del
 dbSNP gnomAD v3 gnomAD v4
16g.72060340A=CA2231555211HP,TXNL4Bc.671A= (p.Tyr224=)
c.296A= (p.Tyr99=)
c.779A= (p.Tyr260=)
c.494A= (p.Tyr165=)
c.285-15983T= (n.285-15983T=)
c.266-323A= (n.266-323A=)
c.374A= (p.Tyr125=)
n.2310A=
c.663A=
c.546A=
16g.72060340A>CCA396677320HP,TXNL4Bc.671A>C (p.Tyr224Ser)
c.296A>C (p.Tyr99Ser)
c.779A>C (p.Tyr260Ser)
c.494A>C (p.Tyr165Ser)
c.285-15983T>G (n.285-15983T>G)
c.266-323A>C (n.266-323A>C)
c.374A>C (p.Tyr125Ser)
n.2310A>C
c.663A>C
c.546A>C
16g.72060340A>GCA8159165HP,TXNL4Bc.671A>G (p.Tyr224Cys)
c.296A>G (p.Tyr99Cys)
c.779A>G (p.Tyr260Cys)
c.494A>G (p.Tyr165Cys)
c.285-15983T>C (n.285-15983T>C)
c.266-323A>G (n.266-323A>G)
c.374A>G (p.Tyr125Cys)
n.2310A>G
c.663A>G
c.546A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060340A>TCA396677321HP,TXNL4Bc.671A>T (p.Tyr224Phe)
c.296A>T (p.Tyr99Phe)
c.779A>T (p.Tyr260Phe)
c.494A>T (p.Tyr165Phe)
c.285-15983T>A (n.285-15983T>A)
c.266-323A>T (n.266-323A>T)
c.374A>T (p.Tyr125Phe)
n.2310A>T
c.663A>T
c.546A>T
 dbSNP
16g.72060341T>ACA396677323HP,TXNL4Bc.672T>A (p.Tyr224Ter)
c.297T>A (p.Tyr99Ter)
c.780T>A (p.Tyr260Ter)
c.495T>A (p.Tyr165Ter)
c.285-15984A>T (n.285-15984A>T)
c.266-322T>A (n.266-322T>A)
c.375T>A (p.Tyr125Ter)
n.2311T>A
c.664T>A
c.547T>A
16g.72060341T>CCA496414871HP,TXNL4Bc.672T>C (p.Tyr224=)
c.297T>C (p.Tyr99=)
c.780T>C (p.Tyr260=)
c.495T>C (p.Tyr165=)
c.285-15984A>G (n.285-15984A>G)
c.266-322T>C (n.266-322T>C)
c.375T>C (p.Tyr125=)
n.2311T>C
c.664T>C
c.547T>C
 dbSNP gnomAD v3 gnomAD v4
16g.72060341T>GCA396677325HP,TXNL4Bc.672T>G (p.Tyr224Ter)
c.297T>G (p.Tyr99Ter)
c.780T>G (p.Tyr260Ter)
c.495T>G (p.Tyr165Ter)
c.285-15984A>C (n.285-15984A>C)
c.266-322T>G (n.266-322T>G)
c.375T>G (p.Tyr125Ter)
n.2311T>G
c.664T>G
c.547T>G
 dbSNP gnomAD v2 gnomAD v4
16g.72060341T=CA2231555212HP,TXNL4Bc.672T= (p.Tyr224=)
c.297T= (p.Tyr99=)
c.780T= (p.Tyr260=)
c.495T= (p.Tyr165=)
c.285-15984A= (n.285-15984A=)
c.266-322T= (n.266-322T=)
c.375T= (p.Tyr125=)
n.2311T=
c.664T=
c.547T=
16g.72060342G>ACA396677330HP,TXNL4Bc.673G>A (p.Val225Met)
c.298G>A (p.Val100Met)
c.781G>A (p.Val261Met)
c.496G>A (p.Val166Met)
c.285-15985C>T (n.285-15985C>T)
c.266-321G>A (n.266-321G>A)
c.376G>A (p.Val126Met)
n.2312G>A
c.665G>A
c.548G>A
16g.72060342G>CCA396677332HP,TXNL4Bc.673G>C (p.Val225Leu)
c.298G>C (p.Val100Leu)
c.781G>C (p.Val261Leu)
c.496G>C (p.Val166Leu)
c.285-15985C>G (n.285-15985C>G)
c.266-321G>C (n.266-321G>C)
c.376G>C (p.Val126Leu)
n.2312G>C
c.665G>C
c.548G>C
16g.72060342G>TCA396677333HP,TXNL4Bc.673G>T (p.Val225Leu)
c.298G>T (p.Val100Leu)
c.781G>T (p.Val261Leu)
c.496G>T (p.Val166Leu)
c.285-15985C>A (n.285-15985C>A)
c.266-321G>T (n.266-321G>T)
c.376G>T (p.Val126Leu)
n.2312G>T
c.665G>T
c.548G>T
16g.72060342_72060343delinsGTCA2231555213HP,TXNL4Bc.673_674delinsGT (p.Val225=)
c.298_299delinsGT (p.Val100=)
c.781_782delinsGT (p.Val261=)
c.496_497delinsGT (p.Val166=)
c.285-15986_285-15985delinsAC (n.285-15986_285-15985delinsAC)
c.266-321_266-320delinsGT (n.266-321_266-320delinsGT)
c.376_377delinsGT (p.Val126=)
n.2312_2313delinsGT
c.665_666delinsGT
c.548_549delinsGT
16g.72060343delCA2231555214HP,TXNL4Bc.674del (p.Val225GlyfsTer7)
c.299del (p.Val100GlyfsTer7)
c.782del (p.Val261GlyfsTer7)
c.497del (p.Val166GlyfsTer7)
c.285-15986del (n.285-15986del)
c.266-320del (n.266-320del)
c.377del (p.Val126GlyfsTer7)
n.2313del
c.666del
c.549del
 dbSNP
16g.72060343T>ACA396677335HP,TXNL4Bc.674T>A (p.Val225Glu)
c.299T>A (p.Val100Glu)
c.782T>A (p.Val261Glu)
c.497T>A (p.Val166Glu)
c.285-15986A>T (n.285-15986A>T)
c.266-320T>A (n.266-320T>A)
c.377T>A (p.Val126Glu)
n.2313T>A
c.666T>A
c.549T>A
 gnomAD v4
16g.72060343T>CCA396677337HP,TXNL4Bc.674T>C (p.Val225Ala)
c.299T>C (p.Val100Ala)
c.782T>C (p.Val261Ala)
c.497T>C (p.Val166Ala)
c.285-15986A>G (n.285-15986A>G)
c.266-320T>C (n.266-320T>C)
c.377T>C (p.Val126Ala)
n.2313T>C
c.666T>C
c.549T>C
 gnomAD v4
16g.72060343T>GCA396677339HP,TXNL4Bc.674T>G (p.Val225Gly)
c.299T>G (p.Val100Gly)
c.782T>G (p.Val261Gly)
c.497T>G (p.Val166Gly)
c.285-15986A>C (n.285-15986A>C)
c.266-320T>G (n.266-320T>G)
c.377T>G (p.Val126Gly)
n.2313T>G
c.666T>G
c.549T>G
16g.72060343_72060344delinsTGCA2231555215HP,TXNL4Bc.674_675delinsTG (p.Val225=)
c.299_300delinsTG (p.Val100=)
c.782_783delinsTG (p.Val261=)
c.497_498delinsTG (p.Val166=)
c.285-15987_285-15986delinsCA (n.285-15987_285-15986delinsCA)
c.266-320_266-319delinsTG (n.266-320_266-319delinsTG)
c.377_378delinsTG (p.Val126=)
n.2313_2314delinsTG
c.666_667delinsTG
c.549_550delinsTG
16g.72060344G>ACA496414872HP,TXNL4Bc.675G>A (p.Val225=)
c.300G>A (p.Val100=)
c.783G>A (p.Val261=)
c.498G>A (p.Val166=)
c.285-15987C>T (n.285-15987C>T)
c.266-319G>A (n.266-319G>A)
c.378G>A (p.Val126=)
n.2314G>A
c.667G>A
c.550G>A
16g.72060344G>CCA496414873HP,TXNL4Bc.675G>C (p.Val225=)
c.300G>C (p.Val100=)
c.783G>C (p.Val261=)
c.498G>C (p.Val166=)
c.285-15987C>G (n.285-15987C>G)
c.266-319G>C (n.266-319G>C)
c.378G>C (p.Val126=)
n.2314G>C
c.667G>C
c.550G>C
16g.72060344G=CA2231555217HP,TXNL4Bc.675G= (p.Val225=)
c.300G= (p.Val100=)
c.783G= (p.Val261=)
c.498G= (p.Val166=)
c.285-15987C= (n.285-15987C=)
c.266-319G= (n.266-319G=)
c.378G= (p.Val126=)
n.2314G=
c.667G=
c.550G=
16g.72060344G>TCA496414874HP,TXNL4Bc.675G>T (p.Val225=)
c.300G>T (p.Val100=)
c.783G>T (p.Val261=)
c.498G>T (p.Val166=)
c.285-15987C>A (n.285-15987C>A)
c.266-319G>T (n.266-319G>T)
c.378G>T (p.Val126=)
n.2314G>T
c.667G>T
c.550G>T
 dbSNP
16g.72060347delCA2231555216HP,TXNL4Bc.678del (p.Lys228SerfsTer4)
c.303del (p.Lys103SerfsTer4)
c.786del (p.Lys264SerfsTer4)
c.501del (p.Lys169SerfsTer4)
c.285-15987del (n.285-15987del)
c.266-316del (n.266-316del)
c.381del (p.Lys129SerfsTer4)
n.2317del
c.670del
c.553del
 dbSNP gnomAD v3 gnomAD v4
16g.72060345G>ACA8159166HP,TXNL4Bc.676G>A (p.Gly226Arg)
c.301G>A (p.Gly101Arg)
c.784G>A (p.Gly262Arg)
c.499G>A (p.Gly167Arg)
c.285-15988C>T (n.285-15988C>T)
c.266-318G>A (n.266-318G>A)
c.379G>A (p.Gly127Arg)
n.2315G>A
c.668G>A
c.551G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060345G>CCA396677340HP,TXNL4Bc.676G>C (p.Gly226Arg)
c.301G>C (p.Gly101Arg)
c.784G>C (p.Gly262Arg)
c.499G>C (p.Gly167Arg)
c.285-15988C>G (n.285-15988C>G)
c.266-318G>C (n.266-318G>C)
c.379G>C (p.Gly127Arg)
n.2315G>C
c.668G>C
c.551G>C
16g.72060345G=CA2231555218HP,TXNL4Bc.676G= (p.Gly226=)
c.301G= (p.Gly101=)
c.784G= (p.Gly262=)
c.499G= (p.Gly167=)
c.285-15988C= (n.285-15988C=)
c.266-318G= (n.266-318G=)
c.379G= (p.Gly127=)
n.2315G=
c.668G=
c.551G=
16g.72060345G>TCA396677343HP,TXNL4Bc.676G>T (p.Gly226Trp)
c.301G>T (p.Gly101Trp)
c.784G>T (p.Gly262Trp)
c.499G>T (p.Gly167Trp)
c.285-15988C>A (n.285-15988C>A)
c.266-318G>T (n.266-318G>T)
c.379G>T (p.Gly127Trp)
n.2315G>T
c.668G>T
c.551G>T
16g.72060346G>ACA396677346HP,TXNL4Bc.677G>A (p.Gly226Glu)
c.302G>A (p.Gly101Glu)
c.785G>A (p.Gly262Glu)
c.500G>A (p.Gly167Glu)
c.285-15989C>T (n.285-15989C>T)
c.266-317G>A (n.266-317G>A)
c.380G>A (p.Gly127Glu)
n.2316G>A
c.669G>A
c.552G>A
 COSMIC
16g.72060346G>CCA396677344HP,TXNL4Bc.677G>C (p.Gly226Ala)
c.302G>C (p.Gly101Ala)
c.785G>C (p.Gly262Ala)
c.500G>C (p.Gly167Ala)
c.285-15989C>G (n.285-15989C>G)
c.266-317G>C (n.266-317G>C)
c.380G>C (p.Gly127Ala)
n.2316G>C
c.669G>C
c.552G>C
 dbSNP gnomAD v4
16g.72060346G=CA2231555219HP,TXNL4Bc.677G= (p.Gly226=)
c.302G= (p.Gly101=)
c.785G= (p.Gly262=)
c.500G= (p.Gly167=)
c.285-15989C= (n.285-15989C=)
c.266-317G= (n.266-317G=)
c.380G= (p.Gly127=)
n.2316G=
c.669G=
c.552G=
16g.72060346G>TCA396677345HP,TXNL4Bc.677G>T (p.Gly226Val)
c.302G>T (p.Gly101Val)
c.785G>T (p.Gly262Val)
c.500G>T (p.Gly167Val)
c.285-15989C>A (n.285-15989C>A)
c.266-317G>T (n.266-317G>T)
c.380G>T (p.Gly127Val)
n.2316G>T
c.669G>T
c.552G>T
16g.72060347G>ACA496414875HP,TXNL4Bc.678G>A (p.Gly226=)
c.303G>A (p.Gly101=)
c.786G>A (p.Gly262=)
c.501G>A (p.Gly167=)
c.285-15990C>T (n.285-15990C>T)
c.266-316G>A (n.266-316G>A)
c.381G>A (p.Gly127=)
n.2317G>A
c.670G>A
c.553G>A
16g.72060347G>CCA496414876HP,TXNL4Bc.678G>C (p.Gly226=)
c.303G>C (p.Gly101=)
c.786G>C (p.Gly262=)
c.501G>C (p.Gly167=)
c.285-15990C>G (n.285-15990C>G)
c.266-316G>C (n.266-316G>C)
c.381G>C (p.Gly127=)
n.2317G>C
c.670G>C
c.553G>C
 dbSNP gnomAD v3 gnomAD v4
16g.72060347G=CA2231555221HP,TXNL4Bc.678G= (p.Gly226=)
c.303G= (p.Gly101=)
c.786G= (p.Gly262=)
c.501G= (p.Gly167=)
c.285-15990C= (n.285-15990C=)
c.266-316G= (n.266-316G=)
c.381G= (p.Gly127=)
n.2317G=
c.670G=
c.553G=
16g.72060347G>TCA496414877HP,TXNL4Bc.678G>T (p.Gly226=)
c.303G>T (p.Gly101=)
c.786G>T (p.Gly262=)
c.501G>T (p.Gly167=)
c.285-15990C>A (n.285-15990C>A)
c.266-316G>T (n.266-316G>T)
c.381G>T (p.Gly127=)
n.2317G>T
c.670G>T
c.553G>T
16g.72060347_72060348delinsGACA2231555220HP,TXNL4Bc.678_679delinsGA (p.Gly226=)
c.303_304delinsGA (p.Gly101=)
c.786_787delinsGA (p.Gly262=)
c.501_502delinsGA (p.Gly167=)
c.285-15991_285-15990delinsTC (n.285-15991_285-15990delinsTC)
c.266-316_266-315delinsGA (n.266-316_266-315delinsGA)
c.381_382delinsGA (p.Gly127=)
n.2317_2318delinsGA
c.670_671delinsGA
c.553_554delinsGA
16g.72060348A>CCA396677347HP,TXNL4Bc.679A>C (p.Lys227Gln)
c.304A>C (p.Lys102Gln)
c.787A>C (p.Lys263Gln)
c.502A>C (p.Lys168Gln)
c.285-15991T>G (n.285-15991T>G)
c.266-315A>C (n.266-315A>C)
c.382A>C (p.Lys128Gln)
n.2318A>C
c.671A>C
c.554A>C
16g.72060348A>GCA396677349HP,TXNL4Bc.679A>G (p.Lys227Glu)
c.304A>G (p.Lys102Glu)
c.787A>G (p.Lys263Glu)
c.502A>G (p.Lys168Glu)
c.285-15991T>C (n.285-15991T>C)
c.266-315A>G (n.266-315A>G)
c.382A>G (p.Lys128Glu)
n.2318A>G
c.671A>G
c.554A>G
 gnomAD v4
16g.72060348A>TCA396677350HP,TXNL4Bc.679A>T (p.Lys227Ter)
c.304A>T (p.Lys102Ter)
c.787A>T (p.Lys263Ter)
c.502A>T (p.Lys168Ter)
c.285-15991T>A (n.285-15991T>A)
c.266-315A>T (n.266-315A>T)
c.382A>T (p.Lys128Ter)
n.2318A>T
c.671A>T
c.554A>T
16g.72060352delCA623580378HP,TXNL4Bc.683del (p.Lys228SerfsTer4)
c.308del (p.Lys103SerfsTer4)
c.791del (p.Lys264SerfsTer4)
c.506del (p.Lys169SerfsTer4)
c.285-15991del (n.285-15991del)
c.266-311del (n.266-311del)
c.386del (p.Lys129SerfsTer4)
n.2322del
c.675del
c.558del
 dbSNP gnomAD v2
16g.72060349A>CCA396677353HP,TXNL4Bc.680A>C (p.Lys227Thr)
c.305A>C (p.Lys102Thr)
c.788A>C (p.Lys263Thr)
c.503A>C (p.Lys168Thr)
c.285-15992T>G (n.285-15992T>G)
c.266-314A>C (n.266-314A>C)
c.383A>C (p.Lys128Thr)
n.2319A>C
c.672A>C
c.555A>C
16g.72060349A>GCA396677354HP,TXNL4Bc.680A>G (p.Lys227Arg)
c.305A>G (p.Lys102Arg)
c.788A>G (p.Lys263Arg)
c.503A>G (p.Lys168Arg)
c.285-15992T>C (n.285-15992T>C)
c.266-314A>G (n.266-314A>G)
c.383A>G (p.Lys128Arg)
n.2319A>G
c.672A>G
c.555A>G
 gnomAD v4
16g.72060349A>TCA396677355HP,TXNL4Bc.680A>T (p.Lys227Ile)
c.305A>T (p.Lys102Ile)
c.788A>T (p.Lys263Ile)
c.503A>T (p.Lys168Ile)
c.285-15992T>A (n.285-15992T>A)
c.266-314A>T (n.266-314A>T)
c.383A>T (p.Lys128Ile)
n.2319A>T
c.672A>T
c.555A>T
16g.72060350A>CCA396677357HP,TXNL4Bc.681A>C (p.Lys227Asn)
c.306A>C (p.Lys102Asn)
c.789A>C (p.Lys263Asn)
c.504A>C (p.Lys168Asn)
c.285-15993T>G (n.285-15993T>G)
c.266-313A>C (n.266-313A>C)
c.384A>C (p.Lys128Asn)
n.2320A>C
c.673A>C
c.556A>C
16g.72060350A>GCA496414878HP,TXNL4Bc.681A>G (p.Lys227=)
c.306A>G (p.Lys102=)
c.789A>G (p.Lys263=)
c.504A>G (p.Lys168=)
c.285-15993T>C (n.285-15993T>C)
c.266-313A>G (n.266-313A>G)
c.384A>G (p.Lys128=)
n.2320A>G
c.673A>G
c.556A>G
16g.72060350A>TCA396677359HP,TXNL4Bc.681A>T (p.Lys227Asn)
c.306A>T (p.Lys102Asn)
c.789A>T (p.Lys263Asn)
c.504A>T (p.Lys168Asn)
c.285-15993T>A (n.285-15993T>A)
c.266-313A>T (n.266-313A>T)
c.384A>T (p.Lys128Asn)
n.2320A>T
c.673A>T
c.556A>T
16g.72060351A>CCA396677361HP,TXNL4Bc.682A>C (p.Lys228Gln)
c.307A>C (p.Lys103Gln)
c.790A>C (p.Lys264Gln)
c.505A>C (p.Lys169Gln)
c.285-15994T>G (n.285-15994T>G)
c.266-312A>C (n.266-312A>C)
c.385A>C (p.Lys129Gln)
n.2321A>C
c.674A>C
c.557A>C
16g.72060351A>GCA396677362HP,TXNL4Bc.682A>G (p.Lys228Glu)
c.307A>G (p.Lys103Glu)
c.790A>G (p.Lys264Glu)
c.505A>G (p.Lys169Glu)
c.285-15994T>C (n.285-15994T>C)
c.266-312A>G (n.266-312A>G)
c.385A>G (p.Lys129Glu)
n.2321A>G
c.674A>G
c.557A>G
16g.72060351A>TCA396677364HP,TXNL4Bc.682A>T (p.Lys228Ter)
c.307A>T (p.Lys103Ter)
c.790A>T (p.Lys264Ter)
c.505A>T (p.Lys169Ter)
c.285-15994T>A (n.285-15994T>A)
c.266-312A>T (n.266-312A>T)
c.385A>T (p.Lys129Ter)
n.2321A>T
c.674A>T
c.557A>T
16g.72060352A>CCA396677367HP,TXNL4Bc.683A>C (p.Lys228Thr)
c.308A>C (p.Lys103Thr)
c.791A>C (p.Lys264Thr)
c.506A>C (p.Lys169Thr)
c.285-15995T>G (n.285-15995T>G)
c.266-311A>C (n.266-311A>C)
c.386A>C (p.Lys129Thr)
n.2322A>C
c.675A>C
c.558A>C
 ClinVar
16g.72060352A>GCA396677369HP,TXNL4Bc.683A>G (p.Lys228Arg)
c.308A>G (p.Lys103Arg)
c.791A>G (p.Lys264Arg)
c.506A>G (p.Lys169Arg)
c.285-15995T>C (n.285-15995T>C)
c.266-311A>G (n.266-311A>G)
c.386A>G (p.Lys129Arg)
n.2322A>G
c.675A>G
c.558A>G
16g.72060352A>TCA396677366HP,TXNL4Bc.683A>T (p.Lys228Met)
c.308A>T (p.Lys103Met)
c.791A>T (p.Lys264Met)
c.506A>T (p.Lys169Met)
c.285-15995T>A (n.285-15995T>A)
c.266-311A>T (n.266-311A>T)
c.386A>T (p.Lys129Met)
n.2322A>T
c.675A>T
c.558A>T
16g.72060353G>ACA496414879HP,TXNL4Bc.684G>A (p.Lys228=)
c.309G>A (p.Lys103=)
c.792G>A (p.Lys264=)
c.507G>A (p.Lys169=)
c.285-15996C>T (n.285-15996C>T)
c.266-310G>A (n.266-310G>A)
c.387G>A (p.Lys129=)
n.2323G>A
c.676G>A
c.559G>A
 dbSNP gnomAD v3 gnomAD v4
16g.72060353G>CCA396677371HP,TXNL4Bc.684G>C (p.Lys228Asn)
c.309G>C (p.Lys103Asn)
c.792G>C (p.Lys264Asn)
c.507G>C (p.Lys169Asn)
c.285-15996C>G (n.285-15996C>G)
c.266-310G>C (n.266-310G>C)
c.387G>C (p.Lys129Asn)
n.2323G>C
c.676G>C
c.559G>C
16g.72060353G=CA2231555222HP,TXNL4Bc.684G= (p.Lys228=)
c.309G= (p.Lys103=)
c.792G= (p.Lys264=)
c.507G= (p.Lys169=)
c.285-15996C= (n.285-15996C=)
c.266-310G= (n.266-310G=)
c.387G= (p.Lys129=)
n.2323G=
c.676G=
c.559G=
16g.72060353G>TCA396677373HP,TXNL4Bc.684G>T (p.Lys228Asn)
c.309G>T (p.Lys103Asn)
c.792G>T (p.Lys264Asn)
c.507G>T (p.Lys169Asn)
c.285-15996C>A (n.285-15996C>A)
c.266-310G>T (n.266-310G>T)
c.387G>T (p.Lys129Asn)
n.2323G>T
c.676G>T
c.559G>T
16g.72060354C>ACA396677374HP,TXNL4Bc.685C>A (p.Gln229Lys)
c.310C>A (p.Gln104Lys)
c.793C>A (p.Gln265Lys)
c.508C>A (p.Gln170Lys)
c.285-15997G>T (n.285-15997G>T)
c.266-309C>A (n.266-309C>A)
c.388C>A (p.Gln130Lys)
n.2324C>A
c.677C>A
c.560C>A
16g.72060354C=CA2231555223HP,TXNL4Bc.685C= (p.Gln229=)
c.310C= (p.Gln104=)
c.793C= (p.Gln265=)
c.508C= (p.Gln170=)
c.285-15997G= (n.285-15997G=)
c.266-309C= (n.266-309C=)
c.388C= (p.Gln130=)
n.2324C=
c.677C=
c.560C=
16g.72060354C>GCA396677375HP,TXNL4Bc.685C>G (p.Gln229Glu)
c.310C>G (p.Gln104Glu)
c.793C>G (p.Gln265Glu)
c.508C>G (p.Gln170Glu)
c.285-15997G>C (n.285-15997G>C)
c.266-309C>G (n.266-309C>G)
c.388C>G (p.Gln130Glu)
n.2324C>G
c.677C>G
c.560C>G
 dbSNP gnomAD v3 gnomAD v4
16g.72060354C>TCA396677376HP,TXNL4Bc.685C>T (p.Gln229Ter)
c.310C>T (p.Gln104Ter)
c.793C>T (p.Gln265Ter)
c.508C>T (p.Gln170Ter)
c.285-15997G>A (n.285-15997G>A)
c.266-309C>T (n.266-309C>T)
c.388C>T (p.Gln130Ter)
n.2324C>T
c.677C>T
c.560C>T
16g.72060355A>CCA396677377HP,TXNL4Bc.686A>C (p.Gln229Pro)
c.311A>C (p.Gln104Pro)
c.794A>C (p.Gln265Pro)
c.509A>C (p.Gln170Pro)
c.285-15998T>G (n.285-15998T>G)
c.266-308A>C (n.266-308A>C)
c.389A>C (p.Gln130Pro)
n.2325A>C
c.678A>C
c.561A>C
16g.72060355A>GCA396677378HP,TXNL4Bc.686A>G (p.Gln229Arg)
c.311A>G (p.Gln104Arg)
c.794A>G (p.Gln265Arg)
c.509A>G (p.Gln170Arg)
c.285-15998T>C (n.285-15998T>C)
c.266-308A>G (n.266-308A>G)
c.389A>G (p.Gln130Arg)
n.2325A>G
c.678A>G
c.561A>G
16g.72060355A>TCA396677379HP,TXNL4Bc.686A>T (p.Gln229Leu)
c.311A>T (p.Gln104Leu)
c.794A>T (p.Gln265Leu)
c.509A>T (p.Gln170Leu)
c.285-15998T>A (n.285-15998T>A)
c.266-308A>T (n.266-308A>T)
c.389A>T (p.Gln130Leu)
n.2325A>T
c.678A>T
c.561A>T
16g.72060356G>ACA496414880HP,TXNL4Bc.687G>A (p.Gln229=)
c.312G>A (p.Gln104=)
c.795G>A (p.Gln265=)
c.510G>A (p.Gln170=)
c.285-15999C>T (n.285-15999C>T)
c.266-307G>A (n.266-307G>A)
c.390G>A (p.Gln130=)
n.2326G>A
c.679G>A
c.562G>A
16g.72060356G>CCA396677381HP,TXNL4Bc.687G>C (p.Gln229His)
c.312G>C (p.Gln104His)
c.795G>C (p.Gln265His)
c.510G>C (p.Gln170His)
c.285-15999C>G (n.285-15999C>G)
c.266-307G>C (n.266-307G>C)
c.390G>C (p.Gln130His)
n.2326G>C
c.679G>C
c.562G>C
16g.72060356G>TCA396677383HP,TXNL4Bc.687G>T (p.Gln229His)
c.312G>T (p.Gln104His)
c.795G>T (p.Gln265His)
c.510G>T (p.Gln170His)
c.285-15999C>A (n.285-15999C>A)
c.266-307G>T (n.266-307G>T)
c.390G>T (p.Gln130His)
n.2326G>T
c.679G>T
c.562G>T
16g.72060357C>ACA396677385HP,TXNL4Bc.688C>A (p.Leu230Ile)
c.313C>A (p.Leu105Ile)
c.796C>A (p.Leu266Ile)
c.511C>A (p.Leu171Ile)
c.285-16000G>T (n.285-16000G>T)
c.266-306C>A (n.266-306C>A)
c.391C>A (p.Leu131Ile)
n.2327C>A
c.680C>A
c.563C>A
16g.72060357C>GCA396677387HP,TXNL4Bc.688C>G (p.Leu230Val)
c.313C>G (p.Leu105Val)
c.796C>G (p.Leu266Val)
c.511C>G (p.Leu171Val)
c.285-16000G>C (n.285-16000G>C)
c.266-306C>G (n.266-306C>G)
c.391C>G (p.Leu131Val)
n.2327C>G
c.680C>G
c.563C>G
 COSMIC
16g.72060357C>TCA396677389HP,TXNL4Bc.688C>T (p.Leu230Phe)
c.313C>T (p.Leu105Phe)
c.796C>T (p.Leu266Phe)
c.511C>T (p.Leu171Phe)
c.285-16000G>A (n.285-16000G>A)
c.266-306C>T (n.266-306C>T)
c.391C>T (p.Leu131Phe)
n.2327C>T
c.680C>T
c.563C>T
 gnomAD v4
16g.72060358T>ACA396677398HP,TXNL4Bc.689T>A (p.Leu230His)
c.314T>A (p.Leu105His)
c.797T>A (p.Leu266His)
c.512T>A (p.Leu171His)
c.285-16001A>T (n.285-16001A>T)
c.266-305T>A (n.266-305T>A)
c.392T>A (p.Leu131His)
n.2328T>A
c.681T>A
c.564T>A
16g.72060358T>CCA396677397HP,TXNL4Bc.689T>C (p.Leu230Pro)
c.314T>C (p.Leu105Pro)
c.797T>C (p.Leu266Pro)
c.512T>C (p.Leu171Pro)
c.285-16001A>G (n.285-16001A>G)
c.266-305T>C (n.266-305T>C)
c.392T>C (p.Leu131Pro)
n.2328T>C
c.681T>C
c.564T>C
 gnomAD v4
16g.72060358T>GCA396677392HP,TXNL4Bc.689T>G (p.Leu230Arg)
c.314T>G (p.Leu105Arg)
c.797T>G (p.Leu266Arg)
c.512T>G (p.Leu171Arg)
c.285-16001A>C (n.285-16001A>C)
c.266-305T>G (n.266-305T>G)
c.392T>G (p.Leu131Arg)
n.2328T>G
c.681T>G
c.564T>G
16g.72060359T>ACA8159167HP,TXNL4Bc.690T>A (p.Leu230=)
c.315T>A (p.Leu105=)
c.798T>A (p.Leu266=)
c.513T>A (p.Leu171=)
c.285-16002A>T (n.285-16002A>T)
c.266-304T>A (n.266-304T>A)
c.393T>A (p.Leu131=)
n.2329T>A
c.682T>A
c.565T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060359T>CCA496414881HP,TXNL4Bc.690T>C (p.Leu230=)
c.315T>C (p.Leu105=)
c.798T>C (p.Leu266=)
c.513T>C (p.Leu171=)
c.285-16002A>G (n.285-16002A>G)
c.266-304T>C (n.266-304T>C)
c.393T>C (p.Leu131=)
n.2329T>C
c.682T>C
c.565T>C
16g.72060359T>GCA496414882HP,TXNL4Bc.690T>G (p.Leu230=)
c.315T>G (p.Leu105=)
c.798T>G (p.Leu266=)
c.513T>G (p.Leu171=)
c.285-16002A>C (n.285-16002A>C)
c.266-304T>G (n.266-304T>G)
c.393T>G (p.Leu131=)
n.2329T>G
c.682T>G
c.565T>G
 gnomAD v4
16g.72060359T=CA2231555224HP,TXNL4Bc.690T= (p.Leu230=)
c.315T= (p.Leu105=)
c.798T= (p.Leu266=)
c.513T= (p.Leu171=)
c.285-16002A= (n.285-16002A=)
c.266-304T= (n.266-304T=)
c.393T= (p.Leu131=)
n.2329T=
c.682T=
c.565T=
16g.72060360G>ACA396677401HP,TXNL4Bc.691G>A (p.Val231Ile)
c.316G>A (p.Val106Ile)
c.799G>A (p.Val267Ile)
c.514G>A (p.Val172Ile)
c.285-16003C>T (n.285-16003C>T)
c.266-303G>A (n.266-303G>A)
c.394G>A (p.Val132Ile)
n.2330G>A
c.683G>A
c.566G>A
16g.72060360G>CCA396677403HP,TXNL4Bc.691G>C (p.Val231Leu)
c.316G>C (p.Val106Leu)
c.799G>C (p.Val267Leu)
c.514G>C (p.Val172Leu)
c.285-16003C>G (n.285-16003C>G)
c.266-303G>C (n.266-303G>C)
c.394G>C (p.Val132Leu)
n.2330G>C
c.683G>C
c.566G>C
16g.72060360G>TCA396677405HP,TXNL4Bc.691G>T (p.Val231Leu)
c.316G>T (p.Val106Leu)
c.799G>T (p.Val267Leu)
c.514G>T (p.Val172Leu)
c.285-16003C>A (n.285-16003C>A)
c.266-303G>T (n.266-303G>T)
c.394G>T (p.Val132Leu)
n.2330G>T
c.683G>T
c.566G>T
16g.72060361T>ACA396677407HP,TXNL4Bc.692T>A (p.Val231Glu)
c.317T>A (p.Val106Glu)
c.800T>A (p.Val267Glu)
c.515T>A (p.Val172Glu)
c.285-16004A>T (n.285-16004A>T)
c.266-302T>A (n.266-302T>A)
c.395T>A (p.Val132Glu)
n.2331T>A
c.684T>A
c.567T>A
16g.72060361T>CCA396677408HP,TXNL4Bc.692T>C (p.Val231Ala)
c.317T>C (p.Val106Ala)
c.800T>C (p.Val267Ala)
c.515T>C (p.Val172Ala)
c.285-16004A>G (n.285-16004A>G)
c.266-302T>C (n.266-302T>C)
c.395T>C (p.Val132Ala)
n.2331T>C
c.684T>C
c.567T>C
 dbSNP gnomAD v3 gnomAD v4
16g.72060361T>GCA396677409HP,TXNL4Bc.692T>G (p.Val231Gly)
c.317T>G (p.Val106Gly)
c.800T>G (p.Val267Gly)
c.515T>G (p.Val172Gly)
c.285-16004A>C (n.285-16004A>C)
c.266-302T>G (n.266-302T>G)
c.395T>G (p.Val132Gly)
n.2331T>G
c.684T>G
c.567T>G
16g.72060361T=CA2231555225HP,TXNL4Bc.692T= (p.Val231=)
c.317T= (p.Val106=)
c.800T= (p.Val267=)
c.515T= (p.Val172=)
c.285-16004A= (n.285-16004A=)
c.266-302T= (n.266-302T=)
c.395T= (p.Val132=)
n.2331T=
c.684T=
c.567T=
16g.72060362A=CA2231555226HP,TXNL4Bc.693A= (p.Val231=)
c.318A= (p.Val106=)
c.801A= (p.Val267=)
c.516A= (p.Val172=)
c.285-16005T= (n.285-16005T=)
c.266-301A= (n.266-301A=)
c.396A= (p.Val132=)
n.2332A=
c.685A=
c.568A=
16g.72060362A>CCA496414885HP,TXNL4Bc.693A>C (p.Val231=)
c.318A>C (p.Val106=)
c.801A>C (p.Val267=)
c.516A>C (p.Val172=)
c.285-16005T>G (n.285-16005T>G)
c.266-301A>C (n.266-301A>C)
c.396A>C (p.Val132=)
n.2332A>C
c.685A>C
c.568A>C
16g.72060362A>GCA496414884HP,TXNL4Bc.693A>G (p.Val231=)
c.318A>G (p.Val106=)
c.801A>G (p.Val267=)
c.516A>G (p.Val172=)
c.285-16005T>C (n.285-16005T>C)
c.266-301A>G (n.266-301A>G)
c.396A>G (p.Val132=)
n.2332A>G
c.685A>G
c.568A>G
 dbSNP gnomAD v2 gnomAD v4
16g.72060362A>TCA496414883HP,TXNL4Bc.693A>T (p.Val231=)
c.318A>T (p.Val106=)
c.801A>T (p.Val267=)
c.516A>T (p.Val172=)
c.285-16005T>A (n.285-16005T>A)
c.266-301A>T (n.266-301A>T)
c.396A>T (p.Val132=)
n.2332A>T
c.685A>T
c.568A>T
16g.72060363G>ACA396677414HP,TXNL4Bc.694G>A (p.Glu232Lys)
c.319G>A (p.Glu107Lys)
c.802G>A (p.Glu268Lys)
c.517G>A (p.Glu173Lys)
c.285-16006C>T (n.285-16006C>T)
c.266-300G>A (n.266-300G>A)
c.397G>A (p.Glu133Lys)
n.2333G>A
c.686G>A
c.569G>A
16g.72060363G>CCA396677415HP,TXNL4Bc.694G>C (p.Glu232Gln)
c.319G>C (p.Glu107Gln)
c.802G>C (p.Glu268Gln)
c.517G>C (p.Glu173Gln)
c.285-16006C>G (n.285-16006C>G)
c.266-300G>C (n.266-300G>C)
c.397G>C (p.Glu133Gln)
n.2333G>C
c.686G>C
c.569G>C
 gnomAD v4
16g.72060363G>TCA396677416HP,TXNL4Bc.694G>T (p.Glu232Ter)
c.319G>T (p.Glu107Ter)
c.802G>T (p.Glu268Ter)
c.517G>T (p.Glu173Ter)
c.285-16006C>A (n.285-16006C>A)
c.266-300G>T (n.266-300G>T)
c.397G>T (p.Glu133Ter)
n.2333G>T
c.686G>T
c.569G>T
16g.72060364A>CCA396677417HP,TXNL4Bc.695A>C (p.Glu232Ala)
c.320A>C (p.Glu107Ala)
c.803A>C (p.Glu268Ala)
c.518A>C (p.Glu173Ala)
c.285-16007T>G (n.285-16007T>G)
c.266-299A>C (n.266-299A>C)
c.398A>C (p.Glu133Ala)
n.2334A>C
c.687A>C
c.570A>C
16g.72060364A>GCA396677418HP,TXNL4Bc.695A>G (p.Glu232Gly)
c.320A>G (p.Glu107Gly)
c.803A>G (p.Glu268Gly)
c.518A>G (p.Glu173Gly)
c.285-16007T>C (n.285-16007T>C)
c.266-299A>G (n.266-299A>G)
c.398A>G (p.Glu133Gly)
n.2334A>G
c.687A>G
c.570A>G
16g.72060364A>TCA396677420HP,TXNL4Bc.695A>T (p.Glu232Val)
c.320A>T (p.Glu107Val)
c.803A>T (p.Glu268Val)
c.518A>T (p.Glu173Val)
c.285-16007T>A (n.285-16007T>A)
c.266-299A>T (n.266-299A>T)
c.398A>T (p.Glu133Val)
n.2334A>T
c.687A>T
c.570A>T
16g.72060365G>ACA496414886HP,TXNL4Bc.696G>A (p.Glu232=)
c.321G>A (p.Glu107=)
c.804G>A (p.Glu268=)
c.519G>A (p.Glu173=)
c.285-16008C>T (n.285-16008C>T)
c.266-298G>A (n.266-298G>A)
c.399G>A (p.Glu133=)
n.2335G>A
c.688G>A
c.571G>A
 dbSNP
16g.72060365G>CCA396677422HP,TXNL4Bc.696G>C (p.Glu232Asp)
c.321G>C (p.Glu107Asp)
c.804G>C (p.Glu268Asp)
c.519G>C (p.Glu173Asp)
c.285-16008C>G (n.285-16008C>G)
c.266-298G>C (n.266-298G>C)
c.399G>C (p.Glu133Asp)
n.2335G>C
c.688G>C
c.571G>C
16g.72060365G=CA2231555227HP,TXNL4Bc.696G= (p.Glu232=)
c.321G= (p.Glu107=)
c.804G= (p.Glu268=)
c.519G= (p.Glu173=)
c.285-16008C= (n.285-16008C=)
c.266-298G= (n.266-298G=)
c.399G= (p.Glu133=)
n.2335G=
c.688G=
c.571G=
16g.72060365G>TCA8159168HP,TXNL4Bc.696G>T (p.Glu232Asp)
c.321G>T (p.Glu107Asp)
c.804G>T (p.Glu268Asp)
c.519G>T (p.Glu173Asp)
c.285-16008C>A (n.285-16008C>A)
c.266-298G>T (n.266-298G>T)
c.399G>T (p.Glu133Asp)
n.2335G>T
c.688G>T
c.571G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060366A>CCA396677426HP,TXNL4Bc.697A>C (p.Ile233Leu)
c.322A>C (p.Ile108Leu)
c.805A>C (p.Ile269Leu)
c.520A>C (p.Ile174Leu)
c.285-16009T>G (n.285-16009T>G)
c.266-297A>C (n.266-297A>C)
c.400A>C (p.Ile134Leu)
n.2336A>C
c.689A>C
c.572A>C
 gnomAD v4
16g.72060366A>GCA396677428HP,TXNL4Bc.697A>G (p.Ile233Val)
c.322A>G (p.Ile108Val)
c.805A>G (p.Ile269Val)
c.520A>G (p.Ile174Val)
c.285-16009T>C (n.285-16009T>C)
c.266-297A>G (n.266-297A>G)
c.400A>G (p.Ile134Val)
n.2336A>G
c.689A>G
c.572A>G
16g.72060366A>TCA396677427HP,TXNL4Bc.697A>T (p.Ile233Phe)
c.322A>T (p.Ile108Phe)
c.805A>T (p.Ile269Phe)
c.520A>T (p.Ile174Phe)
c.285-16009T>A (n.285-16009T>A)
c.266-297A>T (n.266-297A>T)
c.400A>T (p.Ile134Phe)
n.2336A>T
c.689A>T
c.572A>T
16g.72060367T>ACA396677431HP,TXNL4Bc.698T>A (p.Ile233Asn)
c.323T>A (p.Ile108Asn)
c.806T>A (p.Ile269Asn)
c.521T>A (p.Ile174Asn)
c.285-16010A>T (n.285-16010A>T)
c.266-296T>A (n.266-296T>A)
c.401T>A (p.Ile134Asn)
n.2337T>A
c.690T>A
c.573T>A
16g.72060367T>CCA396677432HP,TXNL4Bc.698T>C (p.Ile233Thr)
c.323T>C (p.Ile108Thr)
c.806T>C (p.Ile269Thr)
c.521T>C (p.Ile174Thr)
c.285-16010A>G (n.285-16010A>G)
c.266-296T>C (n.266-296T>C)
c.401T>C (p.Ile134Thr)
n.2337T>C
c.690T>C
c.573T>C
 dbSNP gnomAD v4
16g.72060367T>GCA396677434HP,TXNL4Bc.698T>G (p.Ile233Ser)
c.323T>G (p.Ile108Ser)
c.806T>G (p.Ile269Ser)
c.521T>G (p.Ile174Ser)
c.285-16010A>C (n.285-16010A>C)
c.266-296T>G (n.266-296T>G)
c.401T>G (p.Ile134Ser)
n.2337T>G
c.690T>G
c.573T>G
16g.72060367T=CA2231555228HP,TXNL4Bc.698T= (p.Ile233=)
c.323T= (p.Ile108=)
c.806T= (p.Ile269=)
c.521T= (p.Ile174=)
c.285-16010A= (n.285-16010A=)
c.266-296T= (n.266-296T=)
c.401T= (p.Ile134=)
n.2337T=
c.690T=
c.573T=
16g.72060368T>ACA496414888HP,TXNL4Bc.699T>A (p.Ile233=)
c.324T>A (p.Ile108=)
c.807T>A (p.Ile269=)
c.522T>A (p.Ile174=)
c.285-16011A>T (n.285-16011A>T)
c.266-295T>A (n.266-295T>A)
c.402T>A (p.Ile134=)
n.2338T>A
c.691T>A
c.574T>A
16g.72060368T>CCA496414887HP,TXNL4Bc.699T>C (p.Ile233=)
c.324T>C (p.Ile108=)
c.807T>C (p.Ile269=)
c.522T>C (p.Ile174=)
c.285-16011A>G (n.285-16011A>G)
c.266-295T>C (n.266-295T>C)
c.402T>C (p.Ile134=)
n.2338T>C
c.691T>C
c.574T>C
 gnomAD v4
16g.72060368T>GCA396677436HP,TXNL4Bc.699T>G (p.Ile233Met)
c.324T>G (p.Ile108Met)
c.807T>G (p.Ile269Met)
c.522T>G (p.Ile174Met)
c.285-16011A>C (n.285-16011A>C)
c.266-295T>G (n.266-295T>G)
c.402T>G (p.Ile134Met)
n.2338T>G
c.691T>G
c.574T>G
16g.72060369G>ACA396677437HP,TXNL4Bc.700G>A (p.Glu234Lys)
c.325G>A (p.Glu109Lys)
c.808G>A (p.Glu270Lys)
c.523G>A (p.Glu175Lys)
c.285-16012C>T (n.285-16012C>T)
c.266-294G>A (n.266-294G>A)
c.403G>A (p.Glu135Lys)
n.2339G>A
c.692G>A
c.575G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.72060369G>CCA396677439HP,TXNL4Bc.700G>C (p.Glu234Gln)
c.325G>C (p.Glu109Gln)
c.808G>C (p.Glu270Gln)
c.523G>C (p.Glu175Gln)
c.285-16012C>G (n.285-16012C>G)
c.266-294G>C (n.266-294G>C)
c.403G>C (p.Glu135Gln)
n.2339G>C
c.692G>C
c.575G>C
 gnomAD v4
16g.72060369G=CA2231555230HP,TXNL4Bc.700G= (p.Glu234=)
c.325G= (p.Glu109=)
c.808G= (p.Glu270=)
c.523G= (p.Glu175=)
c.285-16012C= (n.285-16012C=)
c.266-294G= (n.266-294G=)
c.403G= (p.Glu135=)
n.2339G=
c.692G=
c.575G=
16g.72060369G>TCA396677441HP,TXNL4Bc.700G>T (p.Glu234Ter)
c.325G>T (p.Glu109Ter)
c.808G>T (p.Glu270Ter)
c.523G>T (p.Glu175Ter)
c.285-16012C>A (n.285-16012C>A)
c.266-294G>T (n.266-294G>T)
c.403G>T (p.Glu135Ter)
n.2339G>T
c.692G>T
c.575G>T
16g.72060369_72060372delinsGAGACA2231555229HP,TXNL4Bc.700_703delinsGAGA (p.Glu234=)
c.325_328delinsGAGA (p.Glu109=)
c.808_811delinsGAGA (p.Glu270=)
c.523_526delinsGAGA (p.Glu175=)
c.285-16015_285-16012delinsTCTC (n.285-16015_285-16012delinsTCTC)
c.266-294_266-291delinsGAGA (n.266-294_266-291delinsGAGA)
c.403_406delinsGAGA (p.Glu135=)
n.2339_2342delinsGAGA
c.692_695delinsGAGA
c.575_578delinsGAGA
16g.72060370A>CCA396677444HP,TXNL4Bc.701A>C (p.Glu234Ala)
c.326A>C (p.Glu109Ala)
c.809A>C (p.Glu270Ala)
c.524A>C (p.Glu175Ala)
c.285-16013T>G (n.285-16013T>G)
c.266-293A>C (n.266-293A>C)
c.404A>C (p.Glu135Ala)
n.2340A>C
c.693A>C
c.576A>C
16g.72060370A>GCA396677450HP,TXNL4Bc.701A>G (p.Glu234Gly)
c.326A>G (p.Glu109Gly)
c.809A>G (p.Glu270Gly)
c.524A>G (p.Glu175Gly)
c.285-16013T>C (n.285-16013T>C)
c.266-293A>G (n.266-293A>G)
c.404A>G (p.Glu135Gly)
n.2340A>G
c.693A>G
c.576A>G
16g.72060370A>TCA396677447HP,TXNL4Bc.701A>T (p.Glu234Val)
c.326A>T (p.Glu109Val)
c.809A>T (p.Glu270Val)
c.524A>T (p.Glu175Val)
c.285-16013T>A (n.285-16013T>A)
c.266-293A>T (n.266-293A>T)
c.404A>T (p.Glu135Val)
n.2340A>T
c.693A>T
c.576A>T
16g.72060372_72060374delCA8159169HP,TXNL4Bc.703_705del (p.Lys235del)
c.328_330del (p.Lys110del)
c.811_813del (p.Lys271del)
c.526_528del (p.Lys176del)
c.285-16015_285-16013del (n.285-16015_285-16013del)
c.266-291_266-289del (n.266-291_266-289del)
c.406_408del (p.Lys136del)
n.2342_2344del
c.695_697del
c.578_580del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060371G>ACA496414889HP,TXNL4Bc.702G>A (p.Glu234=)
c.327G>A (p.Glu109=)
c.810G>A (p.Glu270=)
c.525G>A (p.Glu175=)
c.285-16014C>T (n.285-16014C>T)
c.266-292G>A (n.266-292G>A)
c.405G>A (p.Glu135=)
n.2341G>A
c.694G>A
c.577G>A
 gnomAD v4 COSMIC
16g.72060371G>CCA396677453HP,TXNL4Bc.702G>C (p.Glu234Asp)
c.327G>C (p.Glu109Asp)
c.810G>C (p.Glu270Asp)
c.525G>C (p.Glu175Asp)
c.285-16014C>G (n.285-16014C>G)
c.266-292G>C (n.266-292G>C)
c.405G>C (p.Glu135Asp)
n.2341G>C
c.694G>C
c.577G>C
16g.72060371G>TCA396677454HP,TXNL4Bc.702G>T (p.Glu234Asp)
c.327G>T (p.Glu109Asp)
c.810G>T (p.Glu270Asp)
c.525G>T (p.Glu175Asp)
c.285-16014C>A (n.285-16014C>A)
c.266-292G>T (n.266-292G>T)
c.405G>T (p.Glu135Asp)
n.2341G>T
c.694G>T
c.577G>T
16g.72060372A>CCA396677455HP,TXNL4Bc.703A>C (p.Lys235Gln)
c.328A>C (p.Lys110Gln)
c.811A>C (p.Lys271Gln)
c.526A>C (p.Lys176Gln)
c.285-16015T>G (n.285-16015T>G)
c.266-291A>C (n.266-291A>C)
c.406A>C (p.Lys136Gln)
n.2342A>C
c.695A>C
c.578A>C
16g.72060372A>GCA396677457HP,TXNL4Bc.703A>G (p.Lys235Glu)
c.328A>G (p.Lys110Glu)
c.811A>G (p.Lys271Glu)
c.526A>G (p.Lys176Glu)
c.285-16015T>C (n.285-16015T>C)
c.266-291A>G (n.266-291A>G)
c.406A>G (p.Lys136Glu)
n.2342A>G
c.695A>G
c.578A>G
 gnomAD v4
16g.72060372A>TCA396677456HP,TXNL4Bc.703A>T (p.Lys235Ter)
c.328A>T (p.Lys110Ter)
c.811A>T (p.Lys271Ter)
c.526A>T (p.Lys176Ter)
c.285-16015T>A (n.285-16015T>A)
c.266-291A>T (n.266-291A>T)
c.406A>T (p.Lys136Ter)
n.2342A>T
c.695A>T
c.578A>T
16g.72060373A>CCA396677458HP,TXNL4Bc.704A>C (p.Lys235Thr)
c.329A>C (p.Lys110Thr)
c.812A>C (p.Lys271Thr)
c.527A>C (p.Lys176Thr)
c.285-16016T>G (n.285-16016T>G)
c.266-290A>C (n.266-290A>C)
c.407A>C (p.Lys136Thr)
n.2343A>C
c.696A>C
c.579A>C
16g.72060373A>GCA396677460HP,TXNL4Bc.704A>G (p.Lys235Arg)
c.329A>G (p.Lys110Arg)
c.812A>G (p.Lys271Arg)
c.527A>G (p.Lys176Arg)
c.285-16016T>C (n.285-16016T>C)
c.266-290A>G (n.266-290A>G)
c.407A>G (p.Lys136Arg)
n.2343A>G
c.696A>G
c.579A>G
16g.72060373A>TCA396677462HP,TXNL4Bc.704A>T (p.Lys235Met)
c.329A>T (p.Lys110Met)
c.812A>T (p.Lys271Met)
c.527A>T (p.Lys176Met)
c.285-16016T>A (n.285-16016T>A)
c.266-290A>T (n.266-290A>T)
c.407A>T (p.Lys136Met)
n.2343A>T
c.696A>T
c.579A>T
16g.72060374G>ACA496414892HP,TXNL4Bc.705G>A (p.Lys235=)
c.330G>A (p.Lys110=)
c.813G>A (p.Lys271=)
c.528G>A (p.Lys176=)
c.285-16017C>T (n.285-16017C>T)
c.266-289G>A (n.266-289G>A)
c.408G>A (p.Lys136=)
n.2344G>A
c.697G>A
c.580G>A
16g.72060374G>CCA396677463HP,TXNL4Bc.705G>C (p.Lys235Asn)
c.330G>C (p.Lys110Asn)
c.813G>C (p.Lys271Asn)
c.528G>C (p.Lys176Asn)
c.285-16017C>G (n.285-16017C>G)
c.266-289G>C (n.266-289G>C)
c.408G>C (p.Lys136Asn)
n.2344G>C
c.697G>C
c.580G>C
16g.72060374G>TCA396677465HP,TXNL4Bc.705G>T (p.Lys235Asn)
c.330G>T (p.Lys110Asn)
c.813G>T (p.Lys271Asn)
c.528G>T (p.Lys176Asn)
c.285-16017C>A (n.285-16017C>A)
c.266-289G>T (n.266-289G>T)
c.408G>T (p.Lys136Asn)
n.2344G>T
c.697G>T
c.580G>T
 gnomAD v4
16g.72060375G>ACA396677467HP,TXNL4Bc.706G>A (p.Val236Ile)
c.331G>A (p.Val111Ile)
c.814G>A (p.Val272Ile)
c.529G>A (p.Val177Ile)
c.285-16018C>T (n.285-16018C>T)
c.266-288G>A (n.266-288G>A)
c.409G>A (p.Val137Ile)
n.2345G>A
c.698G>A
c.581G>A
16g.72060375G>CCA396677469HP,TXNL4Bc.706G>C (p.Val236Leu)
c.331G>C (p.Val111Leu)
c.814G>C (p.Val272Leu)
c.529G>C (p.Val177Leu)
c.285-16018C>G (n.285-16018C>G)
c.266-288G>C (n.266-288G>C)
c.409G>C (p.Val137Leu)
n.2345G>C
c.698G>C
c.581G>C
16g.72060375G>TCA396677470HP,TXNL4Bc.706G>T (p.Val236Phe)
c.331G>T (p.Val111Phe)
c.814G>T (p.Val272Phe)
c.529G>T (p.Val177Phe)
c.285-16018C>A (n.285-16018C>A)
c.266-288G>T (n.266-288G>T)
c.409G>T (p.Val137Phe)
n.2345G>T
c.698G>T
c.581G>T
16g.72060376T>ACA396677472HP,TXNL4Bc.707T>A (p.Val236Asp)
c.332T>A (p.Val111Asp)
c.815T>A (p.Val272Asp)
c.530T>A (p.Val177Asp)
c.285-16019A>T (n.285-16019A>T)
c.266-287T>A (n.266-287T>A)
c.410T>A (p.Val137Asp)
n.2346T>A
c.699T>A
c.582T>A
16g.72060376T>CCA8159170HP,TXNL4Bc.707T>C (p.Val236Ala)
c.332T>C (p.Val111Ala)
c.815T>C (p.Val272Ala)
c.530T>C (p.Val177Ala)
c.285-16019A>G (n.285-16019A>G)
c.266-287T>C (n.266-287T>C)
c.410T>C (p.Val137Ala)
n.2346T>C
c.699T>C
c.582T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060376T>GCA396677475HP,TXNL4Bc.707T>G (p.Val236Gly)
c.332T>G (p.Val111Gly)
c.815T>G (p.Val272Gly)
c.530T>G (p.Val177Gly)
c.285-16019A>C (n.285-16019A>C)
c.266-287T>G (n.266-287T>G)
c.410T>G (p.Val137Gly)
n.2346T>G
c.699T>G
c.582T>G
16g.72060376T=CA2231555231HP,TXNL4Bc.707T= (p.Val236=)
c.332T= (p.Val111=)
c.815T= (p.Val272=)
c.530T= (p.Val177=)
c.285-16019A= (n.285-16019A=)
c.266-287T= (n.266-287T=)
c.410T= (p.Val137=)
n.2346T=
c.699T=
c.582T=
16g.72060377T>ACA8159172HP,TXNL4Bc.708T>A (p.Val236=)
c.333T>A (p.Val111=)
c.816T>A (p.Val272=)
c.531T>A (p.Val177=)
c.285-16020A>T (n.285-16020A>T)
c.266-286T>A (n.266-286T>A)
c.411T>A (p.Val137=)
n.2347T>A
c.700T>A
c.583T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060377T>CCA496414894HP,TXNL4Bc.708T>C (p.Val236=)
c.333T>C (p.Val111=)
c.816T>C (p.Val272=)
c.531T>C (p.Val177=)
c.285-16020A>G (n.285-16020A>G)
c.266-286T>C (n.266-286T>C)
c.411T>C (p.Val137=)
n.2347T>C
c.700T>C
c.583T>C
 dbSNP gnomAD v4
16g.72060377T>GCA8159171HP,TXNL4Bc.708T>G (p.Val236=)
c.333T>G (p.Val111=)
c.816T>G (p.Val272=)
c.531T>G (p.Val177=)
c.285-16020A>C (n.285-16020A>C)
c.266-286T>G (n.266-286T>G)
c.411T>G (p.Val137=)
n.2347T>G
c.700T>G
c.583T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060377T=CA2231555232HP,TXNL4Bc.708T= (p.Val236=)
c.333T= (p.Val111=)
c.816T= (p.Val272=)
c.531T= (p.Val177=)
c.285-16020A= (n.285-16020A=)
c.266-286T= (n.266-286T=)
c.411T= (p.Val137=)
n.2347T=
c.700T=
c.583T=
16g.72060378G>ACA396677478HP,TXNL4Bc.709G>A (p.Val237Ile)
c.334G>A (p.Val112Ile)
c.817G>A (p.Val273Ile)
c.532G>A (p.Val178Ile)
c.285-16021C>T (n.285-16021C>T)
c.266-285G>A (n.266-285G>A)
c.412G>A (p.Val138Ile)
n.2348G>A
c.701G>A
c.584G>A
 gnomAD v4
16g.72060378G>CCA396677481HP,TXNL4Bc.709G>C (p.Val237Leu)
c.334G>C (p.Val112Leu)
c.817G>C (p.Val273Leu)
c.532G>C (p.Val178Leu)
c.285-16021C>G (n.285-16021C>G)
c.266-285G>C (n.266-285G>C)
c.412G>C (p.Val138Leu)
n.2348G>C
c.701G>C
c.584G>C
 gnomAD v4
16g.72060378G>TCA396677479HP,TXNL4Bc.709G>T (p.Val237Phe)
c.334G>T (p.Val112Phe)
c.817G>T (p.Val273Phe)
c.532G>T (p.Val178Phe)
c.285-16021C>A (n.285-16021C>A)
c.266-285G>T (n.266-285G>T)
c.412G>T (p.Val138Phe)
n.2348G>T
c.701G>T
c.584G>T
16g.72060379T>ACA396677482HP,TXNL4Bc.710T>A (p.Val237Asp)
c.335T>A (p.Val112Asp)
c.818T>A (p.Val273Asp)
c.533T>A (p.Val178Asp)
c.285-16022A>T (n.285-16022A>T)
c.266-284T>A (n.266-284T>A)
c.413T>A (p.Val138Asp)
n.2349T>A
c.702T>A
c.585T>A
16g.72060379T>CCA396677484HP,TXNL4Bc.710T>C (p.Val237Ala)
c.335T>C (p.Val112Ala)
c.818T>C (p.Val273Ala)
c.533T>C (p.Val178Ala)
c.285-16022A>G (n.285-16022A>G)
c.266-284T>C (n.266-284T>C)
c.413T>C (p.Val138Ala)
n.2349T>C
c.702T>C
c.585T>C
16g.72060379T>GCA396677486HP,TXNL4Bc.710T>G (p.Val237Gly)
c.335T>G (p.Val112Gly)
c.818T>G (p.Val273Gly)
c.533T>G (p.Val178Gly)
c.285-16022A>C (n.285-16022A>C)
c.266-284T>G (n.266-284T>G)
c.413T>G (p.Val138Gly)
n.2349T>G
c.702T>G
c.585T>G
16g.72060380T>ACA496414900HP,TXNL4Bc.711T>A (p.Val237=)
c.336T>A (p.Val112=)
c.819T>A (p.Val273=)
c.534T>A (p.Val178=)
c.285-16023A>T (n.285-16023A>T)
c.266-283T>A (n.266-283T>A)
c.414T>A (p.Val138=)
n.2350T>A
c.703T>A
c.586T>A
16g.72060380T>CCA496414901HP,TXNL4Bc.711T>C (p.Val237=)
c.336T>C (p.Val112=)
c.819T>C (p.Val273=)
c.534T>C (p.Val178=)
c.285-16023A>G (n.285-16023A>G)
c.266-283T>C (n.266-283T>C)
c.414T>C (p.Val138=)
n.2350T>C
c.703T>C
c.586T>C
16g.72060380T>GCA496414902HP,TXNL4Bc.711T>G (p.Val237=)
c.336T>G (p.Val112=)
c.819T>G (p.Val273=)
c.534T>G (p.Val178=)
c.285-16023A>C (n.285-16023A>C)
c.266-283T>G (n.266-283T>G)
c.414T>G (p.Val138=)
n.2350T>G
c.703T>G
c.586T>G
 dbSNP gnomAD v3 gnomAD v4
16g.72060380T=CA2231555233HP,TXNL4Bc.711T= (p.Val237=)
c.336T= (p.Val112=)
c.819T= (p.Val273=)
c.534T= (p.Val178=)
c.285-16023A= (n.285-16023A=)
c.266-283T= (n.266-283T=)
c.414T= (p.Val138=)
n.2350T=
c.703T=
c.586T=
16g.72060381C>ACA396677487HP,TXNL4Bc.712C>A (p.Leu238Ile)
c.337C>A (p.Leu113Ile)
c.820C>A (p.Leu274Ile)
c.535C>A (p.Leu179Ile)
c.285-16024G>T (n.285-16024G>T)
c.266-282C>A (n.266-282C>A)
c.415C>A (p.Leu139Ile)
n.2351C>A
c.704C>A
c.587C>A
16g.72060381C>GCA396677489HP,TXNL4Bc.712C>G (p.Leu238Val)
c.337C>G (p.Leu113Val)
c.820C>G (p.Leu274Val)
c.535C>G (p.Leu179Val)
c.285-16024G>C (n.285-16024G>C)
c.266-282C>G (n.266-282C>G)
c.415C>G (p.Leu139Val)
n.2351C>G
c.704C>G
c.587C>G
16g.72060381C>TCA496414904HP,TXNL4Bc.712C>T (p.Leu238=)
c.337C>T (p.Leu113=)
c.820C>T (p.Leu274=)
c.535C>T (p.Leu179=)
c.285-16024G>A (n.285-16024G>A)
c.266-282C>T (n.266-282C>T)
c.415C>T (p.Leu139=)
n.2351C>T
c.704C>T
c.587C>T
 gnomAD v4
16g.72060382T>ACA396677491HP,TXNL4Bc.713T>A (p.Leu238Gln)
c.338T>A (p.Leu113Gln)
c.821T>A (p.Leu274Gln)
c.536T>A (p.Leu179Gln)
c.285-16025A>T (n.285-16025A>T)
c.266-281T>A (n.266-281T>A)
c.416T>A (p.Leu139Gln)
n.2352T>A
c.705T>A
c.588T>A
16g.72060382T>CCA396677493HP,TXNL4Bc.713T>C (p.Leu238Pro)
c.338T>C (p.Leu113Pro)
c.821T>C (p.Leu274Pro)
c.536T>C (p.Leu179Pro)
c.285-16025A>G (n.285-16025A>G)
c.266-281T>C (n.266-281T>C)
c.416T>C (p.Leu139Pro)
n.2352T>C
c.705T>C
c.588T>C
16g.72060382T>GCA396677494HP,TXNL4Bc.713T>G (p.Leu238Arg)
c.338T>G (p.Leu113Arg)
c.821T>G (p.Leu274Arg)
c.536T>G (p.Leu179Arg)
c.285-16025A>C (n.285-16025A>C)
c.266-281T>G (n.266-281T>G)
c.416T>G (p.Leu139Arg)
n.2352T>G
c.705T>G
c.588T>G
16g.72060383A>CCA496414905HP,TXNL4Bc.714A>C (p.Leu238=)
c.339A>C (p.Leu113=)
c.822A>C (p.Leu274=)
c.537A>C (p.Leu179=)
c.285-16026T>G (n.285-16026T>G)
c.266-280A>C (n.266-280A>C)
c.417A>C (p.Leu139=)
n.2353A>C
c.706A>C
c.589A>C
16g.72060383A>GCA496414908HP,TXNL4Bc.714A>G (p.Leu238=)
c.339A>G (p.Leu113=)
c.822A>G (p.Leu274=)
c.537A>G (p.Leu179=)
c.285-16026T>C (n.285-16026T>C)
c.266-280A>G (n.266-280A>G)
c.417A>G (p.Leu139=)
n.2353A>G
c.706A>G
c.589A>G
 gnomAD v4
16g.72060383A>TCA496414907HP,TXNL4Bc.714A>T (p.Leu238=)
c.339A>T (p.Leu113=)
c.822A>T (p.Leu274=)
c.537A>T (p.Leu179=)
c.285-16026T>A (n.285-16026T>A)
c.266-280A>T (n.266-280A>T)
c.417A>T (p.Leu139=)
n.2353A>T
c.706A>T
c.589A>T
16g.72060384C>ACA396677496HP,TXNL4Bc.715C>A (p.His239Asn)
c.340C>A (p.His114Asn)
c.823C>A (p.His275Asn)
c.538C>A (p.His180Asn)
c.285-16027G>T (n.285-16027G>T)
c.266-279C>A (n.266-279C>A)
c.418C>A (p.His140Asn)
n.2354C>A
c.707C>A
c.590C>A
 COSMIC
16g.72060384C=CA2231555234HP,TXNL4Bc.715C= (p.His239=)
c.340C= (p.His114=)
c.823C= (p.His275=)
c.538C= (p.His180=)
c.285-16027G= (n.285-16027G=)
c.266-279C= (n.266-279C=)
c.418C= (p.His140=)
n.2354C=
c.707C=
c.590C=
16g.72060384C>GCA396677497HP,TXNL4Bc.715C>G (p.His239Asp)
c.340C>G (p.His114Asp)
c.823C>G (p.His275Asp)
c.538C>G (p.His180Asp)
c.285-16027G>C (n.285-16027G>C)
c.266-279C>G (n.266-279C>G)
c.418C>G (p.His140Asp)
n.2354C>G
c.707C>G
c.590C>G
16g.72060384C>TCA396677499HP,TXNL4Bc.715C>T (p.His239Tyr)
c.340C>T (p.His114Tyr)
c.823C>T (p.His275Tyr)
c.538C>T (p.His180Tyr)
c.285-16027G>A (n.285-16027G>A)
c.266-279C>T (n.266-279C>T)
c.418C>T (p.His140Tyr)
n.2354C>T
c.707C>T
c.590C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.72060385A>CCA396677502HP,TXNL4Bc.716A>C (p.His239Pro)
c.341A>C (p.His114Pro)
c.824A>C (p.His275Pro)
c.539A>C (p.His180Pro)
c.285-16028T>G (n.285-16028T>G)
c.266-278A>C (n.266-278A>C)
c.419A>C (p.His140Pro)
n.2355A>C
c.708A>C
c.591A>C
16g.72060385A>GCA396677501HP,TXNL4Bc.716A>G (p.His239Arg)
c.341A>G (p.His114Arg)
c.824A>G (p.His275Arg)
c.539A>G (p.His180Arg)
c.285-16028T>C (n.285-16028T>C)
c.266-278A>G (n.266-278A>G)
c.419A>G (p.His140Arg)
n.2355A>G
c.708A>G
c.591A>G
16g.72060385A>TCA396677500HP,TXNL4Bc.716A>T (p.His239Leu)
c.341A>T (p.His114Leu)
c.824A>T (p.His275Leu)
c.539A>T (p.His180Leu)
c.285-16028T>A (n.285-16028T>A)
c.266-278A>T (n.266-278A>T)
c.419A>T (p.His140Leu)
n.2355A>T
c.708A>T
c.591A>T
16g.72060386C>ACA396677505HP,TXNL4Bc.717C>A (p.His239Gln)
c.342C>A (p.His114Gln)
c.825C>A (p.His275Gln)
c.540C>A (p.His180Gln)
c.285-16029G>T (n.285-16029G>T)
c.266-277C>A (n.266-277C>A)
c.420C>A (p.His140Gln)
n.2356C>A
c.709C>A
c.592C>A
16g.72060386C=CA2231555235HP,TXNL4Bc.717C= (p.His239=)
c.342C= (p.His114=)
c.825C= (p.His275=)
c.540C= (p.His180=)
c.285-16029G= (n.285-16029G=)
c.266-277C= (n.266-277C=)
c.420C= (p.His140=)
n.2356C=
c.709C=
c.592C=
16g.72060386C>GCA8159174HP,TXNL4Bc.717C>G (p.His239Gln)
c.342C>G (p.His114Gln)
c.825C>G (p.His275Gln)
c.540C>G (p.His180Gln)
c.285-16029G>C (n.285-16029G>C)
c.266-277C>G (n.266-277C>G)
c.420C>G (p.His140Gln)
n.2356C>G
c.709C>G
c.592C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060386C>TCA8159173HP,TXNL4Bc.717C>T (p.His239=)
c.342C>T (p.His114=)
c.825C>T (p.His275=)
c.540C>T (p.His180=)
c.285-16029G>A (n.285-16029G>A)
c.266-277C>T (n.266-277C>T)
c.420C>T (p.His140=)
n.2356C>T
c.709C>T
c.592C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060387C>ACA8159175HP,TXNL4Bc.718C>A (p.Pro240Thr)
c.343C>A (p.Pro115Thr)
c.826C>A (p.Pro276Thr)
c.541C>A (p.Pro181Thr)
c.285-16030G>T (n.285-16030G>T)
c.266-276C>A (n.266-276C>A)
c.421C>A (p.Pro141Thr)
n.2357C>A
c.710C>A
c.593C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060387C=CA2231555236HP,TXNL4Bc.718C= (p.Pro240=)
c.343C= (p.Pro115=)
c.826C= (p.Pro276=)
c.541C= (p.Pro181=)
c.285-16030G= (n.285-16030G=)
c.266-276C= (n.266-276C=)
c.421C= (p.Pro141=)
n.2357C=
c.710C=
c.593C=
16g.72060387C>GCA396677508HP,TXNL4Bc.718C>G (p.Pro240Ala)
c.343C>G (p.Pro115Ala)
c.826C>G (p.Pro276Ala)
c.541C>G (p.Pro181Ala)
c.285-16030G>C (n.285-16030G>C)
c.266-276C>G (n.266-276C>G)
c.421C>G (p.Pro141Ala)
n.2357C>G
c.710C>G
c.593C>G
16g.72060387C>TCA396677510HP,TXNL4Bc.718C>T (p.Pro240Ser)
c.343C>T (p.Pro115Ser)
c.826C>T (p.Pro276Ser)
c.541C>T (p.Pro181Ser)
c.285-16030G>A (n.285-16030G>A)
c.266-276C>T (n.266-276C>T)
c.421C>T (p.Pro141Ser)
n.2357C>T
c.710C>T
c.593C>T
 gnomAD v4
16g.72060388C>ACA396677512HP,TXNL4Bc.719C>A (p.Pro240His)
c.344C>A (p.Pro115His)
c.827C>A (p.Pro276His)
c.542C>A (p.Pro181His)
c.285-16031G>T (n.285-16031G>T)
c.266-275C>A (n.266-275C>A)
c.422C>A (p.Pro141His)
n.2358C>A
c.711C>A
c.594C>A
 COSMIC
16g.72060388C>GCA396677513HP,TXNL4Bc.719C>G (p.Pro240Arg)
c.344C>G (p.Pro115Arg)
c.827C>G (p.Pro276Arg)
c.542C>G (p.Pro181Arg)
c.285-16031G>C (n.285-16031G>C)
c.266-275C>G (n.266-275C>G)
c.422C>G (p.Pro141Arg)
n.2358C>G
c.711C>G
c.594C>G
16g.72060388C>TCA396677515HP,TXNL4Bc.719C>T (p.Pro240Leu)
c.344C>T (p.Pro115Leu)
c.827C>T (p.Pro276Leu)
c.542C>T (p.Pro181Leu)
c.285-16031G>A (n.285-16031G>A)
c.266-275C>T (n.266-275C>T)
c.422C>T (p.Pro141Leu)
n.2358C>T
c.711C>T
c.594C>T
16g.72060389T>ACA496414913HP,TXNL4Bc.720T>A (p.Pro240=)
c.345T>A (p.Pro115=)
c.828T>A (p.Pro276=)
c.543T>A (p.Pro181=)
c.285-16032A>T (n.285-16032A>T)
c.266-274T>A (n.266-274T>A)
c.423T>A (p.Pro141=)
n.2359T>A
c.712T>A
c.595T>A
16g.72060389T>CCA496414914HP,TXNL4Bc.720T>C (p.Pro240=)
c.345T>C (p.Pro115=)
c.828T>C (p.Pro276=)
c.543T>C (p.Pro181=)
c.285-16032A>G (n.285-16032A>G)
c.266-274T>C (n.266-274T>C)
c.423T>C (p.Pro141=)
n.2359T>C
c.712T>C
c.595T>C
16g.72060389T>GCA496414915HP,TXNL4Bc.720T>G (p.Pro240=)
c.345T>G (p.Pro115=)
c.828T>G (p.Pro276=)
c.543T>G (p.Pro181=)
c.285-16032A>C (n.285-16032A>C)
c.266-274T>G (n.266-274T>G)
c.423T>G (p.Pro141=)
n.2359T>G
c.712T>G
c.595T>G
16g.72060390A=CA2231555237HP,TXNL4Bc.721A= (p.Asn241=)
c.346A= (p.Asn116=)
c.829A= (p.Asn277=)
c.544A= (p.Asn182=)
c.285-16033T= (n.285-16033T=)
c.266-273A= (n.266-273A=)
c.424A= (p.Asn142=)
n.2360A=
c.713A=
c.596A=
16g.72060390A>CCA396677517HP,TXNL4Bc.721A>C (p.Asn241His)
c.346A>C (p.Asn116His)
c.829A>C (p.Asn277His)
c.544A>C (p.Asn182His)
c.285-16033T>G (n.285-16033T>G)
c.266-273A>C (n.266-273A>C)
c.424A>C (p.Asn142His)
n.2360A>C
c.713A>C
c.596A>C
16g.72060390A>GCA396677519HP,TXNL4Bc.721A>G (p.Asn241Asp)
c.346A>G (p.Asn116Asp)
c.829A>G (p.Asn277Asp)
c.544A>G (p.Asn182Asp)
c.285-16033T>C (n.285-16033T>C)
c.266-273A>G (n.266-273A>G)
c.424A>G (p.Asn142Asp)
n.2360A>G
c.713A>G
c.596A>G
 dbSNP gnomAD v4
16g.72060390A>TCA396677520HP,TXNL4Bc.721A>T (p.Asn241Tyr)
c.346A>T (p.Asn116Tyr)
c.829A>T (p.Asn277Tyr)
c.544A>T (p.Asn182Tyr)
c.285-16033T>A (n.285-16033T>A)
c.266-273A>T (n.266-273A>T)
c.424A>T (p.Asn142Tyr)
n.2360A>T
c.713A>T
c.596A>T
16g.72060391A=CA2231555238HP,TXNL4Bc.722A= (p.Asn241=)
c.347A= (p.Asn116=)
c.830A= (p.Asn277=)
c.545A= (p.Asn182=)
c.285-16034T= (n.285-16034T=)
c.266-272A= (n.266-272A=)
c.425A= (p.Asn142=)
n.2361A=
c.714A=
c.597A=
16g.72060391A>CCA396677525HP,TXNL4Bc.722A>C (p.Asn241Thr)
c.347A>C (p.Asn116Thr)
c.830A>C (p.Asn277Thr)
c.545A>C (p.Asn182Thr)
c.285-16034T>G (n.285-16034T>G)
c.266-272A>C (n.266-272A>C)
c.425A>C (p.Asn142Thr)
n.2361A>C
c.714A>C
c.597A>C
 gnomAD v4
16g.72060391A>GCA396677521HP,TXNL4Bc.722A>G (p.Asn241Ser)
c.347A>G (p.Asn116Ser)
c.830A>G (p.Asn277Ser)
c.545A>G (p.Asn182Ser)
c.285-16034T>C (n.285-16034T>C)
c.266-272A>G (n.266-272A>G)
c.425A>G (p.Asn142Ser)
n.2361A>G
c.714A>G
c.597A>G
 gnomAD v4
16g.72060391A>TCA396677523HP,TXNL4Bc.722A>T (p.Asn241Ile)
c.347A>T (p.Asn116Ile)
c.830A>T (p.Asn277Ile)
c.545A>T (p.Asn182Ile)
c.285-16034T>A (n.285-16034T>A)
c.266-272A>T (n.266-272A>T)
c.425A>T (p.Asn142Ile)
n.2361A>T
c.714A>T
c.597A>T
 dbSNP gnomAD v4
16g.72060392C>ACA396677527HP,TXNL4Bc.723C>A (p.Asn241Lys)
c.348C>A (p.Asn116Lys)
c.831C>A (p.Asn277Lys)
c.546C>A (p.Asn182Lys)
c.285-16035G>T (n.285-16035G>T)
c.266-271C>A (n.266-271C>A)
c.426C>A (p.Asn142Lys)
n.2362C>A
c.715C>A
c.598C>A
16g.72060392C>GCA396677528HP,TXNL4Bc.723C>G (p.Asn241Lys)
c.348C>G (p.Asn116Lys)
c.831C>G (p.Asn277Lys)
c.546C>G (p.Asn182Lys)
c.285-16035G>C (n.285-16035G>C)
c.266-271C>G (n.266-271C>G)
c.426C>G (p.Asn142Lys)
n.2362C>G
c.715C>G
c.598C>G
 gnomAD v4
16g.72060392C>TCA496414923HP,TXNL4Bc.723C>T (p.Asn241=)
c.348C>T (p.Asn116=)
c.831C>T (p.Asn277=)
c.546C>T (p.Asn182=)
c.285-16035G>A (n.285-16035G>A)
c.266-271C>T (n.266-271C>T)
c.426C>T (p.Asn142=)
n.2362C>T
c.715C>T
c.598C>T
 gnomAD v4
16g.72060393T>ACA396677529HP,TXNL4Bc.724T>A (p.Tyr242Asn)
c.349T>A (p.Tyr117Asn)
c.832T>A (p.Tyr278Asn)
c.547T>A (p.Tyr183Asn)
c.285-16036A>T (n.285-16036A>T)
c.266-270T>A (n.266-270T>A)
c.427T>A (p.Tyr143Asn)
n.2363T>A
c.716T>A
c.599T>A
16g.72060393T>CCA396677531HP,TXNL4Bc.724T>C (p.Tyr242His)
c.349T>C (p.Tyr117His)
c.832T>C (p.Tyr278His)
c.547T>C (p.Tyr183His)
c.285-16036A>G (n.285-16036A>G)
c.266-270T>C (n.266-270T>C)
c.427T>C (p.Tyr143His)
n.2363T>C
c.716T>C
c.599T>C
16g.72060393T>GCA396677532HP,TXNL4Bc.724T>G (p.Tyr242Asp)
c.349T>G (p.Tyr117Asp)
c.832T>G (p.Tyr278Asp)
c.547T>G (p.Tyr183Asp)
c.285-16036A>C (n.285-16036A>C)
c.266-270T>G (n.266-270T>G)
c.427T>G (p.Tyr143Asp)
n.2363T>G
c.716T>G
c.599T>G
16g.72060394A>CCA396677534HP,TXNL4Bc.725A>C (p.Tyr242Ser)
c.350A>C (p.Tyr117Ser)
c.833A>C (p.Tyr278Ser)
c.548A>C (p.Tyr183Ser)
c.285-16037T>G (n.285-16037T>G)
c.266-269A>C (n.266-269A>C)
c.428A>C (p.Tyr143Ser)
n.2364A>C
c.717A>C
c.600A>C
16g.72060394A>GCA396677536HP,TXNL4Bc.725A>G (p.Tyr242Cys)
c.350A>G (p.Tyr117Cys)
c.833A>G (p.Tyr278Cys)
c.548A>G (p.Tyr183Cys)
c.285-16037T>C (n.285-16037T>C)
c.266-269A>G (n.266-269A>G)
c.428A>G (p.Tyr143Cys)
n.2364A>G
c.717A>G
c.600A>G
16g.72060394A>TCA396677537HP,TXNL4Bc.725A>T (p.Tyr242Phe)
c.350A>T (p.Tyr117Phe)
c.833A>T (p.Tyr278Phe)
c.548A>T (p.Tyr183Phe)
c.285-16037T>A (n.285-16037T>A)
c.266-269A>T (n.266-269A>T)
c.428A>T (p.Tyr143Phe)
n.2364A>T
c.717A>T
c.600A>T
 gnomAD v4
16g.72060395C>ACA396677540HP,TXNL4Bc.726C>A (p.Tyr242Ter)
c.351C>A (p.Tyr117Ter)
c.834C>A (p.Tyr278Ter)
c.549C>A (p.Tyr183Ter)
c.285-16038G>T (n.285-16038G>T)
c.266-268C>A (n.266-268C>A)
c.429C>A (p.Tyr143Ter)
n.2365C>A
c.718C>A
c.601C>A
16g.72060395C=CA2231555239HP,TXNL4Bc.726C= (p.Tyr242=)
c.351C= (p.Tyr117=)
c.834C= (p.Tyr278=)
c.549C= (p.Tyr183=)
c.285-16038G= (n.285-16038G=)
c.266-268C= (n.266-268C=)
c.429C= (p.Tyr143=)
n.2365C=
c.718C=
c.601C=
16g.72060395C>GCA396677539HP,TXNL4Bc.726C>G (p.Tyr242Ter)
c.351C>G (p.Tyr117Ter)
c.834C>G (p.Tyr278Ter)
c.549C>G (p.Tyr183Ter)
c.285-16038G>C (n.285-16038G>C)
c.266-268C>G (n.266-268C>G)
c.429C>G (p.Tyr143Ter)
n.2365C>G
c.718C>G
c.601C>G
 dbSNP gnomAD v2 gnomAD v4
16g.72060395C>TCA496414925HP,TXNL4Bc.726C>T (p.Tyr242=)
c.351C>T (p.Tyr117=)
c.834C>T (p.Tyr278=)
c.549C>T (p.Tyr183=)
c.285-16038G>A (n.285-16038G>A)
c.266-268C>T (n.266-268C>T)
c.429C>T (p.Tyr143=)
n.2365C>T
c.718C>T
c.601C>T
16g.72060396T>ACA396677542HP,TXNL4Bc.727T>A (p.Ser243Thr)
c.352T>A (p.Ser118Thr)
c.835T>A (p.Ser279Thr)
c.550T>A (p.Ser184Thr)
c.285-16039A>T (n.285-16039A>T)
c.266-267T>A (n.266-267T>A)
c.430T>A (p.Ser144Thr)
n.2366T>A
c.719T>A
c.602T>A
16g.72060396T>CCA8159176HP,TXNL4Bc.727T>C (p.Ser243Pro)
c.352T>C (p.Ser118Pro)
c.835T>C (p.Ser279Pro)
c.550T>C (p.Ser184Pro)
c.285-16039A>G (n.285-16039A>G)
c.266-267T>C (n.266-267T>C)
c.430T>C (p.Ser144Pro)
n.2366T>C
c.719T>C
c.602T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060396T>GCA396677544HP,TXNL4Bc.727T>G (p.Ser243Ala)
c.352T>G (p.Ser118Ala)
c.835T>G (p.Ser279Ala)
c.550T>G (p.Ser184Ala)
c.285-16039A>C (n.285-16039A>C)
c.266-267T>G (n.266-267T>G)
c.430T>G (p.Ser144Ala)
n.2366T>G
c.719T>G
c.602T>G
16g.72060396T=CA2231555240HP,TXNL4Bc.727T= (p.Ser243=)
c.352T= (p.Ser118=)
c.835T= (p.Ser279=)
c.550T= (p.Ser184=)
c.285-16039A= (n.285-16039A=)
c.266-267T= (n.266-267T=)
c.430T= (p.Ser144=)
n.2366T=
c.719T=
c.602T=
16g.72060397C>ACA8159177HP,TXNL4Bc.728C>A (p.Ser243Tyr)
c.353C>A (p.Ser118Tyr)
c.836C>A (p.Ser279Tyr)
c.551C>A (p.Ser184Tyr)
c.285-16040G>T (n.285-16040G>T)
c.266-266C>A (n.266-266C>A)
c.431C>A (p.Ser144Tyr)
n.2367C>A
c.720C>A
c.603C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060397C=CA2231555241HP,TXNL4Bc.728C= (p.Ser243=)
c.353C= (p.Ser118=)
c.836C= (p.Ser279=)
c.551C= (p.Ser184=)
c.285-16040G= (n.285-16040G=)
c.266-266C= (n.266-266C=)
c.431C= (p.Ser144=)
n.2367C=
c.720C=
c.603C=
16g.72060397C>GCA396677547HP,TXNL4Bc.728C>G (p.Ser243Cys)
c.353C>G (p.Ser118Cys)
c.836C>G (p.Ser279Cys)
c.551C>G (p.Ser184Cys)
c.285-16040G>C (n.285-16040G>C)
c.266-266C>G (n.266-266C>G)
c.431C>G (p.Ser144Cys)
n.2367C>G
c.720C>G
c.603C>G
16g.72060397C>TCA396677548HP,TXNL4Bc.728C>T (p.Ser243Phe)
c.353C>T (p.Ser118Phe)
c.836C>T (p.Ser279Phe)
c.551C>T (p.Ser184Phe)
c.285-16040G>A (n.285-16040G>A)
c.266-266C>T (n.266-266C>T)
c.431C>T (p.Ser144Phe)
n.2367C>T
c.720C>T
c.603C>T
 dbSNP
16g.72060398C>ACA496414930HP,TXNL4Bc.729C>A (p.Ser243=)
c.354C>A (p.Ser118=)
c.837C>A (p.Ser279=)
c.552C>A (p.Ser184=)
c.285-16041G>T (n.285-16041G>T)
c.266-265C>A (n.266-265C>A)
c.432C>A (p.Ser144=)
n.2368C>A
c.721C>A
c.604C>A
16g.72060398C>GCA496414931HP,TXNL4Bc.729C>G (p.Ser243=)
c.354C>G (p.Ser118=)
c.837C>G (p.Ser279=)
c.552C>G (p.Ser184=)
c.285-16041G>C (n.285-16041G>C)
c.266-265C>G (n.266-265C>G)
c.432C>G (p.Ser144=)
n.2368C>G
c.721C>G
c.604C>G
16g.72060398C>TCA496414932HP,TXNL4Bc.729C>T (p.Ser243=)
c.354C>T (p.Ser118=)
c.837C>T (p.Ser279=)
c.552C>T (p.Ser184=)
c.285-16041G>A (n.285-16041G>A)
c.266-265C>T (n.266-265C>T)
c.432C>T (p.Ser144=)
n.2368C>T
c.721C>T
c.604C>T
16g.72060399C>ACA396677550HP,TXNL4Bc.730C>A (p.Gln244Lys)
c.355C>A (p.Gln119Lys)
c.838C>A (p.Gln280Lys)
c.553C>A (p.Gln185Lys)
c.285-16042G>T (n.285-16042G>T)
c.266-264C>A (n.266-264C>A)
c.433C>A (p.Gln145Lys)
n.2369C>A
c.722C>A
c.605C>A
16g.72060399C=CA2231555242HP,TXNL4Bc.730C= (p.Gln244=)
c.355C= (p.Gln119=)
c.838C= (p.Gln280=)
c.553C= (p.Gln185=)
c.285-16042G= (n.285-16042G=)
c.266-264C= (n.266-264C=)
c.433C= (p.Gln145=)
n.2369C=
c.722C=
c.605C=
16g.72060399C>GCA396677552HP,TXNL4Bc.730C>G (p.Gln244Glu)
c.355C>G (p.Gln119Glu)
c.838C>G (p.Gln280Glu)
c.553C>G (p.Gln185Glu)
c.285-16042G>C (n.285-16042G>C)
c.266-264C>G (n.266-264C>G)
c.433C>G (p.Gln145Glu)
n.2369C>G
c.722C>G
c.605C>G
16g.72060399C>TCA8159178HP,TXNL4Bc.730C>T (p.Gln244Ter)
c.355C>T (p.Gln119Ter)
c.838C>T (p.Gln280Ter)
c.553C>T (p.Gln185Ter)
c.285-16042G>A (n.285-16042G>A)
c.266-264C>T (n.266-264C>T)
c.433C>T (p.Gln145Ter)
n.2369C>T
c.722C>T
c.605C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060400A>CCA396677554HP,TXNL4Bc.731A>C (p.Gln244Pro)
c.356A>C (p.Gln119Pro)
c.839A>C (p.Gln280Pro)
c.554A>C (p.Gln185Pro)
c.285-16043T>G (n.285-16043T>G)
c.266-263A>C (n.266-263A>C)
c.434A>C (p.Gln145Pro)
n.2370A>C
c.723A>C
c.606A>C
16g.72060400A>GCA396677555HP,TXNL4Bc.731A>G (p.Gln244Arg)
c.356A>G (p.Gln119Arg)
c.839A>G (p.Gln280Arg)
c.554A>G (p.Gln185Arg)
c.285-16043T>C (n.285-16043T>C)
c.266-263A>G (n.266-263A>G)
c.434A>G (p.Gln145Arg)
n.2370A>G
c.723A>G
c.606A>G
16g.72060400A>TCA396677557HP,TXNL4Bc.731A>T (p.Gln244Leu)
c.356A>T (p.Gln119Leu)
c.839A>T (p.Gln280Leu)
c.554A>T (p.Gln185Leu)
c.285-16043T>A (n.285-16043T>A)
c.266-263A>T (n.266-263A>T)
c.434A>T (p.Gln145Leu)
n.2370A>T
c.723A>T
c.606A>T
16g.72060401G>ACA283640913HP,TXNL4Bc.732G>A (p.Gln244=)
c.357G>A (p.Gln119=)
c.840G>A (p.Gln280=)
c.555G>A (p.Gln185=)
c.285-16044C>T (n.285-16044C>T)
c.266-262G>A (n.266-262G>A)
c.435G>A (p.Gln145=)
n.2371G>A
c.724G>A
c.607G>A
 dbSNP
16g.72060401G>CCA396677558HP,TXNL4Bc.732G>C (p.Gln244His)
c.357G>C (p.Gln119His)
c.840G>C (p.Gln280His)
c.555G>C (p.Gln185His)
c.285-16044C>G (n.285-16044C>G)
c.266-262G>C (n.266-262G>C)
c.435G>C (p.Gln145His)
n.2371G>C
c.724G>C
c.607G>C
16g.72060401G=CA2231555243HP,TXNL4Bc.732G= (p.Gln244=)
c.357G= (p.Gln119=)
c.840G= (p.Gln280=)
c.555G= (p.Gln185=)
c.285-16044C= (n.285-16044C=)
c.266-262G= (n.266-262G=)
c.435G= (p.Gln145=)
n.2371G=
c.724G=
c.607G=
16g.72060401G>TCA396677560HP,TXNL4Bc.732G>T (p.Gln244His)
c.357G>T (p.Gln119His)
c.840G>T (p.Gln280His)
c.555G>T (p.Gln185His)
c.285-16044C>A (n.285-16044C>A)
c.266-262G>T (n.266-262G>T)
c.435G>T (p.Gln145His)
n.2371G>T
c.724G>T
c.607G>T
16g.72060402G>ACA396677561HP,TXNL4Bc.733G>A (p.Val245Ile)
c.358G>A (p.Val120Ile)
c.841G>A (p.Val281Ile)
c.556G>A (p.Val186Ile)
c.285-16045C>T (n.285-16045C>T)
c.266-261G>A (n.266-261G>A)
c.436G>A (p.Val146Ile)
n.2372G>A
c.725G>A
c.608G>A
16g.72060402G>CCA396677563HP,TXNL4Bc.733G>C (p.Val245Leu)
c.358G>C (p.Val120Leu)
c.841G>C (p.Val281Leu)
c.556G>C (p.Val186Leu)
c.285-16045C>G (n.285-16045C>G)
c.266-261G>C (n.266-261G>C)
c.436G>C (p.Val146Leu)
n.2372G>C
c.725G>C
c.608G>C
16g.72060402G=CA2231555244HP,TXNL4Bc.733G= (p.Val245=)
c.358G= (p.Val120=)
c.841G= (p.Val281=)
c.556G= (p.Val186=)
c.285-16045C= (n.285-16045C=)
c.266-261G= (n.266-261G=)
c.436G= (p.Val146=)
n.2372G=
c.725G=
c.608G=
16g.72060402G>TCA396677564HP,TXNL4Bc.733G>T (p.Val245Leu)
c.358G>T (p.Val120Leu)
c.841G>T (p.Val281Leu)
c.556G>T (p.Val186Leu)
c.285-16045C>A (n.285-16045C>A)
c.266-261G>T (n.266-261G>T)
c.436G>T (p.Val146Leu)
n.2372G>T
c.725G>T
c.608G>T
16g.72060403T>ACA396677566HP,TXNL4Bc.734T>A (p.Val245Glu)
c.359T>A (p.Val120Glu)
c.842T>A (p.Val281Glu)
c.557T>A (p.Val186Glu)
c.285-16046A>T (n.285-16046A>T)
c.266-260T>A (n.266-260T>A)
c.437T>A (p.Val146Glu)
n.2373T>A
c.726T>A
c.609T>A
16g.72060403T>CCA396677568HP,TXNL4Bc.734T>C (p.Val245Ala)
c.359T>C (p.Val120Ala)
c.842T>C (p.Val281Ala)
c.557T>C (p.Val186Ala)
c.285-16046A>G (n.285-16046A>G)
c.266-260T>C (n.266-260T>C)
c.437T>C (p.Val146Ala)
n.2373T>C
c.726T>C
c.609T>C
16g.72060403T>GCA396677569HP,TXNL4Bc.734T>G (p.Val245Gly)
c.359T>G (p.Val120Gly)
c.842T>G (p.Val281Gly)
c.557T>G (p.Val186Gly)
c.285-16046A>C (n.285-16046A>C)
c.266-260T>G (n.266-260T>G)
c.437T>G (p.Val146Gly)
n.2373T>G
c.726T>G
c.609T>G
16g.72060405_72060408dupCA919737552HP,TXNL4Bc.736_739dup (p.Ile247ArgfsTer14)
c.361_364dup (p.Ile122ArgfsTer14)
c.844_847dup (p.Ile283ArgfsTer14)
c.559_562dup (p.Ile188ArgfsTer14)
c.285-16049_285-16046dup (n.285-16049_285-16046dup)
c.266-258_266-255dup (n.266-258_266-255dup)
c.439_442dup (p.Ile148ArgfsTer14)
n.2375_2378dup
c.728_731dup
c.611_614dup
 dbSNP gnomAD v4
16g.72060404A=CA2231555245HP,TXNL4Bc.735A= (p.Val245=)
c.360A= (p.Val120=)
c.843A= (p.Val281=)
c.558A= (p.Val186=)
c.285-16047T= (n.285-16047T=)
c.266-259A= (n.266-259A=)
c.438A= (p.Val146=)
n.2374A=
c.727A=
c.610A=
16g.72060404A>CCA496414938HP,TXNL4Bc.735A>C (p.Val245=)
c.360A>C (p.Val120=)
c.843A>C (p.Val281=)
c.558A>C (p.Val186=)
c.285-16047T>G (n.285-16047T>G)
c.266-259A>C (n.266-259A>C)
c.438A>C (p.Val146=)
n.2374A>C
c.727A>C
c.610A>C
16g.72060404A>GCA8159179HP,TXNL4Bc.735A>G (p.Val245=)
c.360A>G (p.Val120=)
c.843A>G (p.Val281=)
c.558A>G (p.Val186=)
c.285-16047T>C (n.285-16047T>C)
c.266-259A>G (n.266-259A>G)
c.438A>G (p.Val146=)
n.2374A>G
c.727A>G
c.610A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060404A>TCA496414936HP,TXNL4Bc.735A>T (p.Val245=)
c.360A>T (p.Val120=)
c.843A>T (p.Val281=)
c.558A>T (p.Val186=)
c.285-16047T>A (n.285-16047T>A)
c.266-259A>T (n.266-259A>T)
c.438A>T (p.Val146=)
n.2374A>T
c.727A>T
c.610A>T
16g.72060405G>ACA396677575HP,TXNL4Bc.736G>A (p.Asp246Asn)
c.361G>A (p.Asp121Asn)
c.844G>A (p.Asp282Asn)
c.559G>A (p.Asp187Asn)
c.285-16048C>T (n.285-16048C>T)
c.266-258G>A (n.266-258G>A)
c.439G>A (p.Asp147Asn)
n.2375G>A
c.728G>A
c.611G>A
16g.72060405G>CCA396677572HP,TXNL4Bc.736G>C (p.Asp246His)
c.361G>C (p.Asp121His)
c.844G>C (p.Asp282His)
c.559G>C (p.Asp187His)
c.285-16048C>G (n.285-16048C>G)
c.266-258G>C (n.266-258G>C)
c.439G>C (p.Asp147His)
n.2375G>C
c.728G>C
c.611G>C
16g.72060405G>TCA396677574HP,TXNL4Bc.736G>T (p.Asp246Tyr)
c.361G>T (p.Asp121Tyr)
c.844G>T (p.Asp282Tyr)
c.559G>T (p.Asp187Tyr)
c.285-16048C>A (n.285-16048C>A)
c.266-258G>T (n.266-258G>T)
c.439G>T (p.Asp147Tyr)
n.2375G>T
c.728G>T
c.611G>T
16g.72060406A=CA2231555246HP,TXNL4Bc.737A= (p.Asp246=)
c.362A= (p.Asp121=)
c.845A= (p.Asp282=)
c.560A= (p.Asp187=)
c.285-16049T= (n.285-16049T=)
c.266-257A= (n.266-257A=)
c.440A= (p.Asp147=)
n.2376A=
c.729A=
c.612A=
16g.72060406A>CCA396677576HP,TXNL4Bc.737A>C (p.Asp246Ala)
c.362A>C (p.Asp121Ala)
c.845A>C (p.Asp282Ala)
c.560A>C (p.Asp187Ala)
c.285-16049T>G (n.285-16049T>G)
c.266-257A>C (n.266-257A>C)
c.440A>C (p.Asp147Ala)
n.2376A>C
c.729A>C
c.612A>C
16g.72060406A>GCA396677578HP,TXNL4Bc.737A>G (p.Asp246Gly)
c.362A>G (p.Asp121Gly)
c.845A>G (p.Asp282Gly)
c.560A>G (p.Asp187Gly)
c.285-16049T>C (n.285-16049T>C)
c.266-257A>G (n.266-257A>G)
c.440A>G (p.Asp147Gly)
n.2376A>G
c.729A>G
c.612A>G
16g.72060406A>TCA396677579HP,TXNL4Bc.737A>T (p.Asp246Val)
c.362A>T (p.Asp121Val)
c.845A>T (p.Asp282Val)
c.560A>T (p.Asp187Val)
c.285-16049T>A (n.285-16049T>A)
c.266-257A>T (n.266-257A>T)
c.440A>T (p.Asp147Val)
n.2376A>T
c.729A>T
c.612A>T
 dbSNP
16g.72060407T>ACA396677582HP,TXNL4Bc.738T>A (p.Asp246Glu)
c.363T>A (p.Asp121Glu)
c.846T>A (p.Asp282Glu)
c.561T>A (p.Asp187Glu)
c.285-16050A>T (n.285-16050A>T)
c.266-256T>A (n.266-256T>A)
c.441T>A (p.Asp147Glu)
n.2377T>A
c.730T>A
c.613T>A
16g.72060407T>CCA8159180HP,TXNL4Bc.738T>C (p.Asp246=)
c.363T>C (p.Asp121=)
c.846T>C (p.Asp282=)
c.561T>C (p.Asp187=)
c.285-16050A>G (n.285-16050A>G)
c.266-256T>C (n.266-256T>C)
c.441T>C (p.Asp147=)
n.2377T>C
c.730T>C
c.613T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060407T>GCA396677583HP,TXNL4Bc.738T>G (p.Asp246Glu)
c.363T>G (p.Asp121Glu)
c.846T>G (p.Asp282Glu)
c.561T>G (p.Asp187Glu)
c.285-16050A>C (n.285-16050A>C)
c.266-256T>G (n.266-256T>G)
c.441T>G (p.Asp147Glu)
n.2377T>G
c.730T>G
c.613T>G
16g.72060407T=CA2231555247HP,TXNL4Bc.738T= (p.Asp246=)
c.363T= (p.Asp121=)
c.846T= (p.Asp282=)
c.561T= (p.Asp187=)
c.285-16050A= (n.285-16050A=)
c.266-256T= (n.266-256T=)
c.441T= (p.Asp147=)
n.2377T=
c.730T=
c.613T=
16g.72060408A>CCA396677585HP,TXNL4Bc.739A>C (p.Ile247Leu)
c.364A>C (p.Ile122Leu)
c.847A>C (p.Ile283Leu)
c.562A>C (p.Ile188Leu)
c.285-16051T>G (n.285-16051T>G)
c.266-255A>C (n.266-255A>C)
c.442A>C (p.Ile148Leu)
n.2378A>C
c.731A>C
c.614A>C
16g.72060408A>GCA396677587HP,TXNL4Bc.739A>G (p.Ile247Val)
c.364A>G (p.Ile122Val)
c.847A>G (p.Ile283Val)
c.562A>G (p.Ile188Val)
c.285-16051T>C (n.285-16051T>C)
c.266-255A>G (n.266-255A>G)
c.442A>G (p.Ile148Val)
n.2378A>G
c.731A>G
c.614A>G
16g.72060408A>TCA396677588HP,TXNL4Bc.739A>T (p.Ile247Phe)
c.364A>T (p.Ile122Phe)
c.847A>T (p.Ile283Phe)
c.562A>T (p.Ile188Phe)
c.285-16051T>A (n.285-16051T>A)
c.266-255A>T (n.266-255A>T)
c.442A>T (p.Ile148Phe)
n.2378A>T
c.731A>T
c.614A>T
16g.72060409T>ACA396677590HP,TXNL4Bc.740T>A (p.Ile247Asn)
c.365T>A (p.Ile122Asn)
c.848T>A (p.Ile283Asn)
c.563T>A (p.Ile188Asn)
c.285-16052A>T (n.285-16052A>T)
c.266-254T>A (n.266-254T>A)
c.443T>A (p.Ile148Asn)
n.2379T>A
c.732T>A
c.615T>A
 gnomAD v4
16g.72060409T>CCA126032HP,TXNL4Bc.740T>C (p.Ile247Thr)
c.365T>C (p.Ile122Thr)
c.848T>C (p.Ile283Thr)
c.563T>C (p.Ile188Thr)
c.285-16052A>G (n.285-16052A>G)
c.266-254T>C (n.266-254T>C)
c.443T>C (p.Ile148Thr)
n.2379T>C
c.732T>C
c.615T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060409T>GCA396677592HP,TXNL4Bc.740T>G (p.Ile247Ser)
c.365T>G (p.Ile122Ser)
c.848T>G (p.Ile283Ser)
c.563T>G (p.Ile188Ser)
c.285-16052A>C (n.285-16052A>C)
c.266-254T>G (n.266-254T>G)
c.443T>G (p.Ile148Ser)
n.2379T>G
c.732T>G
c.615T>G
16g.72060409T=CA2231555248HP,TXNL4Bc.740T= (p.Ile247=)
c.365T= (p.Ile122=)
c.848T= (p.Ile283=)
c.563T= (p.Ile188=)
c.285-16052A= (n.285-16052A=)
c.266-254T= (n.266-254T=)
c.443T= (p.Ile148=)
n.2379T=
c.732T=
c.615T=
16g.72060410T>ACA496414943HP,TXNL4Bc.741T>A (p.Ile247=)
c.366T>A (p.Ile122=)
c.849T>A (p.Ile283=)
c.564T>A (p.Ile188=)
c.285-16053A>T (n.285-16053A>T)
c.266-253T>A (n.266-253T>A)
c.444T>A (p.Ile148=)
n.2380T>A
c.733T>A
c.616T>A
16g.72060410T>CCA496414947HP,TXNL4Bc.741T>C (p.Ile247=)
c.366T>C (p.Ile122=)
c.849T>C (p.Ile283=)
c.564T>C (p.Ile188=)
c.285-16053A>G (n.285-16053A>G)
c.266-253T>C (n.266-253T>C)
c.444T>C (p.Ile148=)
n.2380T>C
c.733T>C
c.616T>C
 gnomAD v4
16g.72060410T>GCA396677594HP,TXNL4Bc.741T>G (p.Ile247Met)
c.366T>G (p.Ile122Met)
c.849T>G (p.Ile283Met)
c.564T>G (p.Ile188Met)
c.285-16053A>C (n.285-16053A>C)
c.266-253T>G (n.266-253T>G)
c.444T>G (p.Ile148Met)
n.2380T>G
c.733T>G
c.616T>G
16g.72060411G>ACA396677596HP,TXNL4Bc.742G>A (p.Gly248Arg)
c.367G>A (p.Gly123Arg)
c.850G>A (p.Gly284Arg)
c.565G>A (p.Gly189Arg)
c.285-16054C>T (n.285-16054C>T)
c.266-252G>A (n.266-252G>A)
c.445G>A (p.Gly149Arg)
n.2381G>A
c.734G>A
c.617G>A
16g.72060411G>CCA283640930HP,TXNL4Bc.742G>C (p.Gly248Arg)
c.367G>C (p.Gly123Arg)
c.850G>C (p.Gly284Arg)
c.565G>C (p.Gly189Arg)
c.285-16054C>G (n.285-16054C>G)
c.266-252G>C (n.266-252G>C)
c.445G>C (p.Gly149Arg)
n.2381G>C
c.734G>C
c.617G>C
 dbSNP
16g.72060411G=CA2231555249HP,TXNL4Bc.742G= (p.Gly248=)
c.367G= (p.Gly123=)
c.850G= (p.Gly284=)
c.565G= (p.Gly189=)
c.285-16054C= (n.285-16054C=)
c.266-252G= (n.266-252G=)
c.445G= (p.Gly149=)
n.2381G=
c.734G=
c.617G=
16g.72060411G>TCA396677597HP,TXNL4Bc.742G>T (p.Gly248Trp)
c.367G>T (p.Gly123Trp)
c.850G>T (p.Gly284Trp)
c.565G>T (p.Gly189Trp)
c.285-16054C>A (n.285-16054C>A)
c.266-252G>T (n.266-252G>T)
c.445G>T (p.Gly149Trp)
n.2381G>T
c.734G>T
c.617G>T
16g.72060412G>ACA396677599HP,TXNL4Bc.743G>A (p.Gly248Glu)
c.368G>A (p.Gly123Glu)
c.851G>A (p.Gly284Glu)
c.566G>A (p.Gly189Glu)
c.285-16055C>T (n.285-16055C>T)
c.266-251G>A (n.266-251G>A)
c.446G>A (p.Gly149Glu)
n.2382G>A
c.735G>A
c.618G>A
 dbSNP
16g.72060412G>CCA8159181HP,TXNL4Bc.743G>C (p.Gly248Ala)
c.368G>C (p.Gly123Ala)
c.851G>C (p.Gly284Ala)
c.566G>C (p.Gly189Ala)
c.285-16055C>G (n.285-16055C>G)
c.266-251G>C (n.266-251G>C)
c.446G>C (p.Gly149Ala)
n.2382G>C
c.735G>C
c.618G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060412G=CA2231555250HP,TXNL4Bc.743G= (p.Gly248=)
c.368G= (p.Gly123=)
c.851G= (p.Gly284=)
c.566G= (p.Gly189=)
c.285-16055C= (n.285-16055C=)
c.266-251G= (n.266-251G=)
c.446G= (p.Gly149=)
n.2382G=
c.735G=
c.618G=
16g.72060412G>TCA396677601HP,TXNL4Bc.743G>T (p.Gly248Val)
c.368G>T (p.Gly123Val)
c.851G>T (p.Gly284Val)
c.566G>T (p.Gly189Val)
c.285-16055C>A (n.285-16055C>A)
c.266-251G>T (n.266-251G>T)
c.446G>T (p.Gly149Val)
n.2382G>T
c.735G>T
c.618G>T
16g.72060413G>ACA283640935HP,TXNL4Bc.744G>A (p.Gly248=)
c.369G>A (p.Gly123=)
c.852G>A (p.Gly284=)
c.567G>A (p.Gly189=)
c.285-16056C>T (n.285-16056C>T)
c.266-250G>A (n.266-250G>A)
c.447G>A (p.Gly149=)
n.2383G>A
c.736G>A
c.619G>A
 dbSNP gnomAD v3 gnomAD v4
16g.72060413G>CCA496414664HP,TXNL4Bc.744G>C (p.Gly248=)
c.369G>C (p.Gly123=)
c.852G>C (p.Gly284=)
c.567G>C (p.Gly189=)
c.285-16056C>G (n.285-16056C>G)
c.266-250G>C (n.266-250G>C)
c.447G>C (p.Gly149=)
n.2383G>C
c.736G>C
c.619G>C
16g.72060413G=CA2231555251HP,TXNL4Bc.744G= (p.Gly248=)
c.369G= (p.Gly123=)
c.852G= (p.Gly284=)
c.567G= (p.Gly189=)
c.285-16056C= (n.285-16056C=)
c.266-250G= (n.266-250G=)
c.447G= (p.Gly149=)
n.2383G=
c.736G=
c.619G=
16g.72060413G>TCA496414665HP,TXNL4Bc.744G>T (p.Gly248=)
c.369G>T (p.Gly123=)
c.852G>T (p.Gly284=)
c.567G>T (p.Gly189=)
c.285-16056C>A (n.285-16056C>A)
c.266-250G>T (n.266-250G>T)
c.447G>T (p.Gly149=)
n.2383G>T
c.736G>T
c.619G>T
16g.72060414C>ACA396677604HP,TXNL4Bc.745C>A (p.Leu249Ile)
c.370C>A (p.Leu124Ile)
c.853C>A (p.Leu285Ile)
c.568C>A (p.Leu190Ile)
c.285-16057G>T (n.285-16057G>T)
c.266-249C>A (n.266-249C>A)
c.448C>A (p.Leu150Ile)
n.2384C>A
c.737C>A
c.620C>A
16g.72060414C=CA2231555252HP,TXNL4Bc.745C= (p.Leu249=)
c.370C= (p.Leu124=)
c.853C= (p.Leu285=)
c.568C= (p.Leu190=)
c.285-16057G= (n.285-16057G=)
c.266-249C= (n.266-249C=)
c.448C= (p.Leu150=)
n.2384C=
c.737C=
c.620C=
16g.72060414C>GCA396677605HP,TXNL4Bc.745C>G (p.Leu249Val)
c.370C>G (p.Leu124Val)
c.853C>G (p.Leu285Val)
c.568C>G (p.Leu190Val)
c.285-16057G>C (n.285-16057G>C)
c.266-249C>G (n.266-249C>G)
c.448C>G (p.Leu150Val)
n.2384C>G
c.737C>G
c.620C>G
16g.72060414C>TCA396677607HP,TXNL4Bc.745C>T (p.Leu249Phe)
c.370C>T (p.Leu124Phe)
c.853C>T (p.Leu285Phe)
c.568C>T (p.Leu190Phe)
c.285-16057G>A (n.285-16057G>A)
c.266-249C>T (n.266-249C>T)
c.448C>T (p.Leu150Phe)
n.2384C>T
c.737C>T
c.620C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.72060415T>ACA396677608HP,TXNL4Bc.746T>A (p.Leu249His)
c.371T>A (p.Leu124His)
c.854T>A (p.Leu285His)
c.569T>A (p.Leu190His)
c.285-16058A>T (n.285-16058A>T)
c.266-248T>A (n.266-248T>A)
c.449T>A (p.Leu150His)
n.2385T>A
c.738T>A
c.621T>A
16g.72060415T>CCA396677609HP,TXNL4Bc.746T>C (p.Leu249Pro)
c.371T>C (p.Leu124Pro)
c.854T>C (p.Leu285Pro)
c.569T>C (p.Leu190Pro)
c.285-16058A>G (n.285-16058A>G)
c.266-248T>C (n.266-248T>C)
c.449T>C (p.Leu150Pro)
n.2385T>C
c.738T>C
c.621T>C
16g.72060415T>GCA396677611HP,TXNL4Bc.746T>G (p.Leu249Arg)
c.371T>G (p.Leu124Arg)
c.854T>G (p.Leu285Arg)
c.569T>G (p.Leu190Arg)
c.285-16058A>C (n.285-16058A>C)
c.266-248T>G (n.266-248T>G)
c.449T>G (p.Leu150Arg)
n.2385T>G
c.738T>G
c.621T>G
16g.72060416C>ACA496414669HP,TXNL4Bc.747C>A (p.Leu249=)
c.372C>A (p.Leu124=)
c.855C>A (p.Leu285=)
c.570C>A (p.Leu190=)
c.285-16059G>T (n.285-16059G>T)
c.266-247C>A (n.266-247C>A)
c.450C>A (p.Leu150=)
n.2386C>A
c.739C>A
c.622C>A
16g.72060416C>GCA496414671HP,TXNL4Bc.747C>G (p.Leu249=)
c.372C>G (p.Leu124=)
c.855C>G (p.Leu285=)
c.570C>G (p.Leu190=)
c.285-16059G>C (n.285-16059G>C)
c.266-247C>G (n.266-247C>G)
c.450C>G (p.Leu150=)
n.2386C>G
c.739C>G
c.622C>G
16g.72060416C>TCA496414672HP,TXNL4Bc.747C>T (p.Leu249=)
c.372C>T (p.Leu124=)
c.855C>T (p.Leu285=)
c.570C>T (p.Leu190=)
c.285-16059G>A (n.285-16059G>A)
c.266-247C>T (n.266-247C>T)
c.450C>T (p.Leu150=)
n.2386C>T
c.739C>T
c.622C>T
16g.72060417A=CA2231555253HP,TXNL4Bc.748A= (p.Ile250=)
c.373A= (p.Ile125=)
c.856A= (p.Ile286=)
c.571A= (p.Ile191=)
c.285-16060T= (n.285-16060T=)
c.266-246A= (n.266-246A=)
c.451A= (p.Ile151=)
n.2387A=
c.740A=
c.623A=
16g.72060417A>CCA396677613HP,TXNL4Bc.748A>C (p.Ile250Leu)
c.373A>C (p.Ile125Leu)
c.856A>C (p.Ile286Leu)
c.571A>C (p.Ile191Leu)
c.285-16060T>G (n.285-16060T>G)
c.266-246A>C (n.266-246A>C)
c.451A>C (p.Ile151Leu)
n.2387A>C
c.740A>C
c.623A>C
 gnomAD v4
16g.72060417A>GCA396677616HP,TXNL4Bc.748A>G (p.Ile250Val)
c.373A>G (p.Ile125Val)
c.856A>G (p.Ile286Val)
c.571A>G (p.Ile191Val)
c.285-16060T>C (n.285-16060T>C)
c.266-246A>G (n.266-246A>G)
c.451A>G (p.Ile151Val)
n.2387A>G
c.740A>G
c.623A>G
 dbSNP gnomAD v2 gnomAD v4
16g.72060417A>TCA396677614HP,TXNL4Bc.748A>T (p.Ile250Phe)
c.373A>T (p.Ile125Phe)
c.856A>T (p.Ile286Phe)
c.571A>T (p.Ile191Phe)
c.285-16060T>A (n.285-16060T>A)
c.266-246A>T (n.266-246A>T)
c.451A>T (p.Ile151Phe)
n.2387A>T
c.740A>T
c.623A>T
16g.72060419_72060485delCA2634177623HP,TXNL4Bc.750_816del (p.Ile250MetfsTer4)
c.375_441del (p.Ile125MetfsTer4)
c.858_924del (p.Ile286MetfsTer4)
c.573_639del (p.Ile191MetfsTer4)
c.285-16126_285-16060del (n.285-16126_285-16060del)
c.266-244_266-178del (n.266-244_266-178del)
c.453_519del (p.Ile151MetfsTer4)
n.2389_2455del
c.742_808del
c.625_691del
 gnomAD v4
16g.72060418T>ACA396677617HP,TXNL4Bc.749T>A (p.Ile250Asn)
c.374T>A (p.Ile125Asn)
c.857T>A (p.Ile286Asn)
c.572T>A (p.Ile191Asn)
c.285-16061A>T (n.285-16061A>T)
c.266-245T>A (n.266-245T>A)
c.452T>A (p.Ile151Asn)
n.2388T>A
c.741T>A
c.624T>A
16g.72060418T>CCA396677620HP,TXNL4Bc.749T>C (p.Ile250Thr)
c.374T>C (p.Ile125Thr)
c.857T>C (p.Ile286Thr)
c.572T>C (p.Ile191Thr)
c.285-16061A>G (n.285-16061A>G)
c.266-245T>C (n.266-245T>C)
c.452T>C (p.Ile151Thr)
n.2388T>C
c.741T>C
c.624T>C
 gnomAD v4
16g.72060418T>GCA396677619HP,TXNL4Bc.749T>G (p.Ile250Ser)
c.374T>G (p.Ile125Ser)
c.857T>G (p.Ile286Ser)
c.572T>G (p.Ile191Ser)
c.285-16061A>C (n.285-16061A>C)
c.266-245T>G (n.266-245T>G)
c.452T>G (p.Ile151Ser)
n.2388T>G
c.741T>G
c.624T>G
16g.72060419C>ACA496414675HP,TXNL4Bc.750C>A (p.Ile250=)
c.375C>A (p.Ile125=)
c.858C>A (p.Ile286=)
c.573C>A (p.Ile191=)
c.285-16062G>T (n.285-16062G>T)
c.266-244C>A (n.266-244C>A)
c.453C>A (p.Ile151=)
n.2389C>A
c.742C>A
c.625C>A
16g.72060419C=CA2231555254HP,TXNL4Bc.750C= (p.Ile250=)
c.375C= (p.Ile125=)
c.858C= (p.Ile286=)
c.573C= (p.Ile191=)
c.285-16062G= (n.285-16062G=)
c.266-244C= (n.266-244C=)
c.453C= (p.Ile151=)
n.2389C=
c.742C=
c.625C=
16g.72060419C>GCA396677622HP,TXNL4Bc.750C>G (p.Ile250Met)
c.375C>G (p.Ile125Met)
c.858C>G (p.Ile286Met)
c.573C>G (p.Ile191Met)
c.285-16062G>C (n.285-16062G>C)
c.266-244C>G (n.266-244C>G)
c.453C>G (p.Ile151Met)
n.2389C>G
c.742C>G
c.625C>G
 dbSNP gnomAD v3 gnomAD v4
16g.72060419C>TCA496414676HP,TXNL4Bc.750C>T (p.Ile250=)
c.375C>T (p.Ile125=)
c.858C>T (p.Ile286=)
c.573C>T (p.Ile191=)
c.285-16062G>A (n.285-16062G>A)
c.266-244C>T (n.266-244C>T)
c.453C>T (p.Ile151=)
n.2389C>T
c.742C>T
c.625C>T
16g.72060420A>CCA396677624HP,TXNL4Bc.751A>C (p.Lys251Gln)
c.376A>C (p.Lys126Gln)
c.859A>C (p.Lys287Gln)
c.574A>C (p.Lys192Gln)
c.285-16063T>G (n.285-16063T>G)
c.266-243A>C (n.266-243A>C)
c.454A>C (p.Lys152Gln)
n.2390A>C
c.743A>C
c.626A>C
16g.72060420A>GCA396677625HP,TXNL4Bc.751A>G (p.Lys251Glu)
c.376A>G (p.Lys126Glu)
c.859A>G (p.Lys287Glu)
c.574A>G (p.Lys192Glu)
c.285-16063T>C (n.285-16063T>C)
c.266-243A>G (n.266-243A>G)
c.454A>G (p.Lys152Glu)
n.2390A>G
c.743A>G
c.626A>G
16g.72060420A>TCA396677627HP,TXNL4Bc.751A>T (p.Lys251Ter)
c.376A>T (p.Lys126Ter)
c.859A>T (p.Lys287Ter)
c.574A>T (p.Lys192Ter)
c.285-16063T>A (n.285-16063T>A)
c.266-243A>T (n.266-243A>T)
c.454A>T (p.Lys152Ter)
n.2390A>T
c.743A>T
c.626A>T
16g.72060421A=CA2231555255HP,TXNL4Bc.752A= (p.Lys251=)
c.377A= (p.Lys126=)
c.860A= (p.Lys287=)
c.575A= (p.Lys192=)
c.285-16064T= (n.285-16064T=)
c.266-242A= (n.266-242A=)
c.455A= (p.Lys152=)
n.2391A=
c.744A=
c.627A=
16g.72060421A>CCA396677629HP,TXNL4Bc.752A>C (p.Lys251Thr)
c.377A>C (p.Lys126Thr)
c.860A>C (p.Lys287Thr)
c.575A>C (p.Lys192Thr)
c.285-16064T>G (n.285-16064T>G)
c.266-242A>C (n.266-242A>C)
c.455A>C (p.Lys152Thr)
n.2391A>C
c.744A>C
c.627A>C
16g.72060421A>GCA396677630HP,TXNL4Bc.752A>G (p.Lys251Arg)
c.377A>G (p.Lys126Arg)
c.860A>G (p.Lys287Arg)
c.575A>G (p.Lys192Arg)
c.285-16064T>C (n.285-16064T>C)
c.266-242A>G (n.266-242A>G)
c.455A>G (p.Lys152Arg)
n.2391A>G
c.744A>G
c.627A>G
 dbSNP gnomAD v4
16g.72060421A>TCA396677631HP,TXNL4Bc.752A>T (p.Lys251Ile)
c.377A>T (p.Lys126Ile)
c.860A>T (p.Lys287Ile)
c.575A>T (p.Lys192Ile)
c.285-16064T>A (n.285-16064T>A)
c.266-242A>T (n.266-242A>T)
c.455A>T (p.Lys152Ile)
n.2391A>T
c.744A>T
c.627A>T

Number of alleles fetched