Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.19918899T>ACA410693750TXNRD2c.335A>T (p.Asn112Ile)
c.245A>T (p.Asn82Ile)
c.332A>T (p.Asn111Ile)
c.266A>T (p.Asn89Ile)
c.278A>T (p.Asn93Ile)
c.239A>T (p.Asn80Ile)
n.340A>T
c.47A>T (p.Asn16Ile)
n.467A>T
n.293A>T
 ClinVar dbSNP
22g.19918899T>CCA10104261TXNRD2c.335A>G (p.Asn112Ser)
c.245A>G (p.Asn82Ser)
c.332A>G (p.Asn111Ser)
c.266A>G (p.Asn89Ser)
c.278A>G (p.Asn93Ser)
c.239A>G (p.Asn80Ser)
n.340A>G
c.47A>G (p.Asn16Ser)
n.467A>G
n.293A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.19918899T>GCA410693752TXNRD2c.335A>C (p.Asn112Thr)
c.245A>C (p.Asn82Thr)
c.332A>C (p.Asn111Thr)
c.266A>C (p.Asn89Thr)
c.278A>C (p.Asn93Thr)
c.239A>C (p.Asn80Thr)
n.340A>C
c.47A>C (p.Asn16Thr)
n.467A>C
n.293A>C
 dbSNP
22g.19918899T=CA2396103741TXNRD2c.335A= (p.Asn112=)
c.245A= (p.Asn82=)
c.332A= (p.Asn111=)
c.266A= (p.Asn89=)
c.278A= (p.Asn93=)
c.239A= (p.Asn80=)
n.340A=
c.47A= (p.Asn16=)
n.467A=
n.293A=
22g.19918900T>ACA410693756TXNRD2c.334A>T (p.Asn112Tyr)
c.244A>T (p.Asn82Tyr)
c.331A>T (p.Asn111Tyr)
c.265A>T (p.Asn89Tyr)
c.277A>T (p.Asn93Tyr)
c.238A>T (p.Asn80Tyr)
n.339A>T
c.46A>T (p.Asn16Tyr)
n.466A>T
n.292A>T
22g.19918900T>CCA322105575TXNRD2c.334A>G (p.Asn112Asp)
c.244A>G (p.Asn82Asp)
c.331A>G (p.Asn111Asp)
c.265A>G (p.Asn89Asp)
c.277A>G (p.Asn93Asp)
c.238A>G (p.Asn80Asp)
n.339A>G
c.46A>G (p.Asn16Asp)
n.466A>G
n.292A>G
 dbSNP gnomAD v3 gnomAD v4
22g.19918900T>GCA410693754TXNRD2c.334A>C (p.Asn112His)
c.244A>C (p.Asn82His)
c.331A>C (p.Asn111His)
c.265A>C (p.Asn89His)
c.277A>C (p.Asn93His)
c.238A>C (p.Asn80His)
n.339A>C
c.46A>C (p.Asn16His)
n.466A>C
n.292A>C
22g.19918900T=CA2396103742TXNRD2c.334A= (p.Asn112=)
c.244A= (p.Asn82=)
c.331A= (p.Asn111=)
c.265A= (p.Asn89=)
c.277A= (p.Asn93=)
c.238A= (p.Asn80=)
n.339A=
c.46A= (p.Asn16=)
n.466A=
n.292A=
22g.19918901G>ACA513369059TXNRD2c.333C>T (p.Pro111=)
c.243C>T (p.Pro81=)
c.330C>T (p.Pro110=)
c.264C>T (p.Pro88=)
c.276C>T (p.Pro92=)
c.237C>T (p.Pro79=)
n.338C>T
c.45C>T (p.Pro15=)
n.465C>T
n.291C>T
 dbSNP gnomAD v2
22g.19918901G>CCA513369058TXNRD2c.333C>G (p.Pro111=)
c.243C>G (p.Pro81=)
c.330C>G (p.Pro110=)
c.264C>G (p.Pro88=)
c.276C>G (p.Pro92=)
c.237C>G (p.Pro79=)
n.338C>G
c.45C>G (p.Pro15=)
n.465C>G
n.291C>G
22g.19918901G=CA2396103743TXNRD2c.333C= (p.Pro111=)
c.243C= (p.Pro81=)
c.330C= (p.Pro110=)
c.264C= (p.Pro88=)
c.276C= (p.Pro92=)
c.237C= (p.Pro79=)
n.338C=
c.45C= (p.Pro15=)
n.465C=
n.291C=
22g.19918901G>TCA513369057TXNRD2c.333C>A (p.Pro111=)
c.243C>A (p.Pro81=)
c.330C>A (p.Pro110=)
c.264C>A (p.Pro88=)
c.276C>A (p.Pro92=)
c.237C>A (p.Pro79=)
n.338C>A
c.45C>A (p.Pro15=)
n.465C>A
n.291C>A
 gnomAD v4
22g.19918905delCA2655329353TXNRD2c.333del (p.Asn112ThrfsTer25)
c.243del (p.Asn82ThrfsTer25)
c.330del (p.Asn111ThrfsTer25)
c.264del (p.Asn89ThrfsTer25)
c.276del (p.Asn93ThrfsTer25)
c.237del (p.Asn80ThrfsTer25)
n.338del
c.45del (p.Asn16ThrfsTer25)
n.465del
n.291del
 gnomAD v4
22g.19918903_19918905delCA2655329354TXNRD2c.331_333del (p.Pro111del)
c.241_243del (p.Pro81del)
c.328_330del (p.Pro110del)
c.262_264del (p.Pro88del)
c.274_276del (p.Pro92del)
c.235_237del (p.Pro79del)
n.336_338del
c.43_45del (p.Pro15del)
n.463_465del
n.289_291del
 gnomAD v4
22g.19918902G>ACA410693758TXNRD2c.332C>T (p.Pro111Leu)
c.242C>T (p.Pro81Leu)
c.329C>T (p.Pro110Leu)
c.263C>T (p.Pro88Leu)
c.275C>T (p.Pro92Leu)
c.236C>T (p.Pro79Leu)
n.337C>T
c.44C>T (p.Pro15Leu)
n.464C>T
n.290C>T
 gnomAD v4
22g.19918902G>CCA410693759TXNRD2c.332C>G (p.Pro111Arg)
c.242C>G (p.Pro81Arg)
c.329C>G (p.Pro110Arg)
c.263C>G (p.Pro88Arg)
c.275C>G (p.Pro92Arg)
c.236C>G (p.Pro79Arg)
n.337C>G
c.44C>G (p.Pro15Arg)
n.464C>G
n.290C>G
22g.19918902G>TCA410693760TXNRD2c.332C>A (p.Pro111His)
c.242C>A (p.Pro81His)
c.329C>A (p.Pro110His)
c.263C>A (p.Pro88His)
c.275C>A (p.Pro92His)
c.236C>A (p.Pro79His)
n.337C>A
c.44C>A (p.Pro15His)
n.464C>A
n.290C>A
22g.19918903G>ACA410693762TXNRD2c.331C>T (p.Pro111Ser)
c.241C>T (p.Pro81Ser)
c.328C>T (p.Pro110Ser)
c.262C>T (p.Pro88Ser)
c.274C>T (p.Pro92Ser)
c.235C>T (p.Pro79Ser)
n.336C>T
c.43C>T (p.Pro15Ser)
n.463C>T
n.289C>T
 gnomAD v4
22g.19918903G>CCA410693764TXNRD2c.331C>G (p.Pro111Ala)
c.241C>G (p.Pro81Ala)
c.328C>G (p.Pro110Ala)
c.262C>G (p.Pro88Ala)
c.274C>G (p.Pro92Ala)
c.235C>G (p.Pro79Ala)
n.336C>G
c.43C>G (p.Pro15Ala)
n.463C>G
n.289C>G
22g.19918903G>TCA410693765TXNRD2c.331C>A (p.Pro111Thr)
c.241C>A (p.Pro81Thr)
c.328C>A (p.Pro110Thr)
c.262C>A (p.Pro88Thr)
c.274C>A (p.Pro92Thr)
c.235C>A (p.Pro79Thr)
n.336C>A
c.43C>A (p.Pro15Thr)
n.463C>A
n.289C>A
 gnomAD v4
22g.19918904G>ACA513369062TXNRD2c.330C>T (p.Ala110=)
c.240C>T (p.Ala80=)
c.327C>T (p.Ala109=)
c.261C>T (p.Ala87=)
c.273C>T (p.Ala91=)
c.234C>T (p.Ala78=)
n.335C>T
c.42C>T (p.Ala14=)
n.462C>T
n.288C>T
22g.19918904G>CCA513369061TXNRD2c.330C>G (p.Ala110=)
c.240C>G (p.Ala80=)
c.327C>G (p.Ala109=)
c.261C>G (p.Ala87=)
c.273C>G (p.Ala91=)
c.234C>G (p.Ala78=)
n.335C>G
c.42C>G (p.Ala14=)
n.462C>G
n.288C>G
22g.19918904G>TCA513369060TXNRD2c.330C>A (p.Ala110=)
c.240C>A (p.Ala80=)
c.327C>A (p.Ala109=)
c.261C>A (p.Ala87=)
c.273C>A (p.Ala91=)
c.234C>A (p.Ala78=)
n.335C>A
c.42C>A (p.Ala14=)
n.462C>A
n.288C>A
 gnomAD v4
22g.19918905G>ACA410693767TXNRD2c.329C>T (p.Ala110Val)
c.239C>T (p.Ala80Val)
c.326C>T (p.Ala109Val)
c.260C>T (p.Ala87Val)
c.272C>T (p.Ala91Val)
c.233C>T (p.Ala78Val)
n.334C>T
c.41C>T (p.Ala14Val)
n.461C>T
n.287C>T
 gnomAD v4
22g.19918905G>CCA410693769TXNRD2c.329C>G (p.Ala110Gly)
c.239C>G (p.Ala80Gly)
c.326C>G (p.Ala109Gly)
c.260C>G (p.Ala87Gly)
c.272C>G (p.Ala91Gly)
c.233C>G (p.Ala78Gly)
n.334C>G
c.41C>G (p.Ala14Gly)
n.461C>G
n.287C>G
22g.19918905G>TCA410693770TXNRD2c.329C>A (p.Ala110Asp)
c.239C>A (p.Ala80Asp)
c.326C>A (p.Ala109Asp)
c.260C>A (p.Ala87Asp)
c.272C>A (p.Ala91Asp)
c.233C>A (p.Ala78Asp)
n.334C>A
c.41C>A (p.Ala14Asp)
n.461C>A
n.287C>A
 gnomAD v4
22g.19918906C>ACA410693772TXNRD2c.328G>T (p.Ala110Ser)
c.238G>T (p.Ala80Ser)
c.325G>T (p.Ala109Ser)
c.259G>T (p.Ala87Ser)
c.271G>T (p.Ala91Ser)
c.232G>T (p.Ala78Ser)
n.333G>T
c.40G>T (p.Ala14Ser)
n.460G>T
n.286G>T
 gnomAD v4
22g.19918906C>GCA410693773TXNRD2c.328G>C (p.Ala110Pro)
c.238G>C (p.Ala80Pro)
c.325G>C (p.Ala109Pro)
c.259G>C (p.Ala87Pro)
c.271G>C (p.Ala91Pro)
c.232G>C (p.Ala78Pro)
n.333G>C
c.40G>C (p.Ala14Pro)
n.460G>C
n.286G>C
22g.19918906C>TCA410693775TXNRD2c.328G>A (p.Ala110Thr)
c.238G>A (p.Ala80Thr)
c.325G>A (p.Ala109Thr)
c.259G>A (p.Ala87Thr)
c.271G>A (p.Ala91Thr)
c.232G>A (p.Ala78Thr)
n.333G>A
c.40G>A (p.Ala14Thr)
n.460G>A
n.286G>A
 gnomAD v4
22g.19918907A>CCA410693778TXNRD2c.327T>G (p.Asp109Glu)
c.237T>G (p.Asp79Glu)
c.324T>G (p.Asp108Glu)
c.258T>G (p.Asp86Glu)
c.270T>G (p.Asp90Glu)
c.231T>G (p.Asp77Glu)
n.332T>G
c.39T>G (p.Asp13Glu)
n.459T>G
n.285T>G
22g.19918907A>GCA513369063TXNRD2c.327T>C (p.Asp109=)
c.237T>C (p.Asp79=)
c.324T>C (p.Asp108=)
c.258T>C (p.Asp86=)
c.270T>C (p.Asp90=)
c.231T>C (p.Asp77=)
n.332T>C
c.39T>C (p.Asp13=)
n.459T>C
n.285T>C
22g.19918907A>TCA410693777TXNRD2c.327T>A (p.Asp109Glu)
c.237T>A (p.Asp79Glu)
c.324T>A (p.Asp108Glu)
c.258T>A (p.Asp86Glu)
c.270T>A (p.Asp90Glu)
c.231T>A (p.Asp77Glu)
n.332T>A
c.39T>A (p.Asp13Glu)
n.459T>A
n.285T>A
22g.19918908T>ACA410693780TXNRD2c.326A>T (p.Asp109Val)
c.236A>T (p.Asp79Val)
c.323A>T (p.Asp108Val)
c.257A>T (p.Asp86Val)
c.269A>T (p.Asp90Val)
c.230A>T (p.Asp77Val)
n.331A>T
c.38A>T (p.Asp13Val)
n.458A>T
n.284A>T
22g.19918908T>CCA410693782TXNRD2c.326A>G (p.Asp109Gly)
c.236A>G (p.Asp79Gly)
c.323A>G (p.Asp108Gly)
c.257A>G (p.Asp86Gly)
c.269A>G (p.Asp90Gly)
c.230A>G (p.Asp77Gly)
n.331A>G
c.38A>G (p.Asp13Gly)
n.458A>G
n.284A>G
22g.19918908T>GCA410693781TXNRD2c.326A>C (p.Asp109Ala)
c.236A>C (p.Asp79Ala)
c.323A>C (p.Asp108Ala)
c.257A>C (p.Asp86Ala)
c.269A>C (p.Asp90Ala)
c.230A>C (p.Asp77Ala)
n.331A>C
c.38A>C (p.Asp13Ala)
n.458A>C
n.284A>C
22g.19918909C>ACA410693784TXNRD2c.325G>T (p.Asp109Tyr)
c.235G>T (p.Asp79Tyr)
c.322G>T (p.Asp108Tyr)
c.256G>T (p.Asp86Tyr)
c.268G>T (p.Asp90Tyr)
c.229G>T (p.Asp77Tyr)
n.330G>T
c.37G>T (p.Asp13Tyr)
n.457G>T
n.283G>T
22g.19918909C=CA2396103744TXNRD2c.325G= (p.Asp109=)
c.235G= (p.Asp79=)
c.322G= (p.Asp108=)
c.256G= (p.Asp86=)
c.268G= (p.Asp90=)
c.229G= (p.Asp77=)
n.330G=
c.37G= (p.Asp13=)
n.457G=
n.283G=
22g.19918909C>GCA410693787TXNRD2c.325G>C (p.Asp109His)
c.235G>C (p.Asp79His)
c.322G>C (p.Asp108His)
c.256G>C (p.Asp86His)
c.268G>C (p.Asp90His)
c.229G>C (p.Asp77His)
n.330G>C
c.37G>C (p.Asp13His)
n.457G>C
n.283G>C
22g.19918909C>TCA410693785TXNRD2c.325G>A (p.Asp109Asn)
c.235G>A (p.Asp79Asn)
c.322G>A (p.Asp108Asn)
c.256G>A (p.Asp86Asn)
c.268G>A (p.Asp90Asn)
c.229G>A (p.Asp77Asn)
n.330G>A
c.37G>A (p.Asp13Asn)
n.457G>A
n.283G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.19918910T>ACA410693789TXNRD2c.324A>T (p.Gln108His)
c.234A>T (p.Gln78His)
c.321A>T (p.Gln107His)
c.255A>T (p.Gln85His)
c.267A>T (p.Gln89His)
c.228A>T (p.Gln76His)
n.329A>T
c.36A>T (p.Gln12His)
n.456A>T
n.282A>T
22g.19918910T>CCA513369064TXNRD2c.324A>G (p.Gln108=)
c.234A>G (p.Gln78=)
c.321A>G (p.Gln107=)
c.255A>G (p.Gln85=)
c.267A>G (p.Gln89=)
c.228A>G (p.Gln76=)
n.329A>G
c.36A>G (p.Gln12=)
n.456A>G
n.282A>G
 dbSNP gnomAD v4
22g.19918910T>GCA410693791TXNRD2c.324A>C (p.Gln108His)
c.234A>C (p.Gln78His)
c.321A>C (p.Gln107His)
c.255A>C (p.Gln85His)
c.267A>C (p.Gln89His)
c.228A>C (p.Gln76His)
n.329A>C
c.36A>C (p.Gln12His)
n.456A>C
n.282A>C
22g.19918910T=CA2396103745TXNRD2c.324A= (p.Gln108=)
c.234A= (p.Gln78=)
c.321A= (p.Gln107=)
c.255A= (p.Gln85=)
c.267A= (p.Gln89=)
c.228A= (p.Gln76=)
n.329A=
c.36A= (p.Gln12=)
n.456A=
n.282A=
22g.19918911T>ACA410693792TXNRD2c.323A>T (p.Gln108Leu)
c.233A>T (p.Gln78Leu)
c.320A>T (p.Gln107Leu)
c.254A>T (p.Gln85Leu)
c.266A>T (p.Gln89Leu)
c.227A>T (p.Gln76Leu)
n.328A>T
c.35A>T (p.Gln12Leu)
n.455A>T
n.281A>T
22g.19918911T>CCA410693793TXNRD2c.323A>G (p.Gln108Arg)
c.233A>G (p.Gln78Arg)
c.320A>G (p.Gln107Arg)
c.254A>G (p.Gln85Arg)
c.266A>G (p.Gln89Arg)
c.227A>G (p.Gln76Arg)
n.328A>G
c.35A>G (p.Gln12Arg)
n.455A>G
n.281A>G
 dbSNP gnomAD v4
22g.19918911T>GCA410693795TXNRD2c.323A>C (p.Gln108Pro)
c.233A>C (p.Gln78Pro)
c.320A>C (p.Gln107Pro)
c.254A>C (p.Gln85Pro)
c.266A>C (p.Gln89Pro)
c.227A>C (p.Gln76Pro)
n.328A>C
c.35A>C (p.Gln12Pro)
n.455A>C
n.281A>C
22g.19918911T=CA2396103746TXNRD2c.323A= (p.Gln108=)
c.233A= (p.Gln78=)
c.320A= (p.Gln107=)
c.254A= (p.Gln85=)
c.266A= (p.Gln89=)
c.227A= (p.Gln76=)
n.328A=
c.35A= (p.Gln12=)
n.455A=
n.281A=
22g.19918912G>ACA410693797TXNRD2c.322C>T (p.Gln108Ter)
c.232C>T (p.Gln78Ter)
c.319C>T (p.Gln107Ter)
c.253C>T (p.Gln85Ter)
c.265C>T (p.Gln89Ter)
c.226C>T (p.Gln76Ter)
n.327C>T
c.34C>T (p.Gln12Ter)
n.454C>T
n.280C>T
22g.19918912G>CCA410693798TXNRD2c.322C>G (p.Gln108Glu)
c.232C>G (p.Gln78Glu)
c.319C>G (p.Gln107Glu)
c.253C>G (p.Gln85Glu)
c.265C>G (p.Gln89Glu)
c.226C>G (p.Gln76Glu)
n.327C>G
c.34C>G (p.Gln12Glu)
n.454C>G
n.280C>G
22g.19918912G>TCA410693800TXNRD2c.322C>A (p.Gln108Lys)
c.232C>A (p.Gln78Lys)
c.319C>A (p.Gln107Lys)
c.253C>A (p.Gln85Lys)
c.265C>A (p.Gln89Lys)
c.226C>A (p.Gln76Lys)
n.327C>A
c.34C>A (p.Gln12Lys)
n.454C>A
n.280C>A
 gnomAD v4
22g.19918913G>ACA513369066TXNRD2c.321C>T (p.Ile107=)
c.231C>T (p.Ile77=)
c.318C>T (p.Ile106=)
c.252C>T (p.Ile84=)
c.264C>T (p.Ile88=)
c.225C>T (p.Ile75=)
n.326C>T
c.33C>T (p.Ile11=)
n.453C>T
n.279C>T
 COSMIC COSMIC
22g.19918913G>CCA410693802TXNRD2c.321C>G (p.Ile107Met)
c.231C>G (p.Ile77Met)
c.318C>G (p.Ile106Met)
c.252C>G (p.Ile84Met)
c.264C>G (p.Ile88Met)
c.225C>G (p.Ile75Met)
n.326C>G
c.33C>G (p.Ile11Met)
n.453C>G
n.279C>G
22g.19918913G>TCA513369065TXNRD2c.321C>A (p.Ile107=)
c.231C>A (p.Ile77=)
c.318C>A (p.Ile106=)
c.252C>A (p.Ile84=)
c.264C>A (p.Ile88=)
c.225C>A (p.Ile75=)
n.326C>A
c.33C>A (p.Ile11=)
n.453C>A
n.279C>A
22g.19918914A>CCA410693804TXNRD2c.320T>G (p.Ile107Ser)
c.230T>G (p.Ile77Ser)
c.317T>G (p.Ile106Ser)
c.251T>G (p.Ile84Ser)
c.263T>G (p.Ile88Ser)
c.224T>G (p.Ile75Ser)
n.325T>G
c.32T>G (p.Ile11Ser)
n.452T>G
n.278T>G
22g.19918914A>GCA410693806TXNRD2c.320T>C (p.Ile107Thr)
c.230T>C (p.Ile77Thr)
c.317T>C (p.Ile106Thr)
c.251T>C (p.Ile84Thr)
c.263T>C (p.Ile88Thr)
c.224T>C (p.Ile75Thr)
n.325T>C
c.32T>C (p.Ile11Thr)
n.452T>C
n.278T>C
22g.19918914A>TCA410693807TXNRD2c.320T>A (p.Ile107Asn)
c.230T>A (p.Ile77Asn)
c.317T>A (p.Ile106Asn)
c.251T>A (p.Ile84Asn)
c.263T>A (p.Ile88Asn)
c.224T>A (p.Ile75Asn)
n.325T>A
c.32T>A (p.Ile11Asn)
n.452T>A
n.278T>A
 gnomAD v4
22g.19918915T>ACA410693809TXNRD2c.319A>T (p.Ile107Phe)
c.229A>T (p.Ile77Phe)
c.316A>T (p.Ile106Phe)
c.250A>T (p.Ile84Phe)
c.262A>T (p.Ile88Phe)
c.223A>T (p.Ile75Phe)
n.324A>T
c.31A>T (p.Ile11Phe)
n.451A>T
n.277A>T
22g.19918915T>CCA410693810TXNRD2c.319A>G (p.Ile107Val)
c.229A>G (p.Ile77Val)
c.316A>G (p.Ile106Val)
c.250A>G (p.Ile84Val)
c.262A>G (p.Ile88Val)
c.223A>G (p.Ile75Val)
n.324A>G
c.31A>G (p.Ile11Val)
n.451A>G
n.277A>G
 gnomAD v4
22g.19918915T>GCA410693812TXNRD2c.319A>C (p.Ile107Leu)
c.229A>C (p.Ile77Leu)
c.316A>C (p.Ile106Leu)
c.250A>C (p.Ile84Leu)
c.262A>C (p.Ile88Leu)
c.223A>C (p.Ile75Leu)
n.324A>C
c.31A>C (p.Ile11Leu)
n.451A>C
n.277A>C
22g.19918916C>ACA513369068TXNRD2c.318G>T (p.Leu106=)
c.228G>T (p.Leu76=)
c.315G>T (p.Leu105=)
c.249G>T (p.Leu83=)
c.261G>T (p.Leu87=)
c.222G>T (p.Leu74=)
n.323G>T
c.30G>T (p.Leu10=)
n.450G>T
n.276G>T
 dbSNP gnomAD v2 gnomAD v4
22g.19918916C=CA2396103747TXNRD2c.318G= (p.Leu106=)
c.228G= (p.Leu76=)
c.315G= (p.Leu105=)
c.249G= (p.Leu83=)
c.261G= (p.Leu87=)
c.222G= (p.Leu74=)
n.323G=
c.30G= (p.Leu10=)
n.450G=
n.276G=
22g.19918916C>GCA513369067TXNRD2c.318G>C (p.Leu106=)
c.228G>C (p.Leu76=)
c.315G>C (p.Leu105=)
c.249G>C (p.Leu83=)
c.261G>C (p.Leu87=)
c.222G>C (p.Leu74=)
n.323G>C
c.30G>C (p.Leu10=)
n.450G>C
n.276G>C
22g.19918916C>TCA10104262TXNRD2c.318G>A (p.Leu106=)
c.228G>A (p.Leu76=)
c.315G>A (p.Leu105=)
c.249G>A (p.Leu83=)
c.261G>A (p.Leu87=)
c.222G>A (p.Leu74=)
n.323G>A
c.30G>A (p.Leu10=)
n.450G>A
n.276G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19918917A>CCA410693814TXNRD2c.317T>G (p.Leu106Arg)
c.227T>G (p.Leu76Arg)
c.314T>G (p.Leu105Arg)
c.248T>G (p.Leu83Arg)
c.260T>G (p.Leu87Arg)
c.221T>G (p.Leu74Arg)
n.322T>G
c.29T>G (p.Leu10Arg)
n.449T>G
n.275T>G
22g.19918917A>GCA410693816TXNRD2c.317T>C (p.Leu106Pro)
c.227T>C (p.Leu76Pro)
c.314T>C (p.Leu105Pro)
c.248T>C (p.Leu83Pro)
c.260T>C (p.Leu87Pro)
c.221T>C (p.Leu74Pro)
n.322T>C
c.29T>C (p.Leu10Pro)
n.449T>C
n.275T>C
22g.19918917A>TCA410693818TXNRD2c.317T>A (p.Leu106Gln)
c.227T>A (p.Leu76Gln)
c.314T>A (p.Leu105Gln)
c.248T>A (p.Leu83Gln)
c.260T>A (p.Leu87Gln)
c.221T>A (p.Leu74Gln)
n.322T>A
c.29T>A (p.Leu10Gln)
n.449T>A
n.275T>A
22g.19918917_19918918delinsAGCA2396103748TXNRD2c.316_317delinsCT (p.Leu106=)
c.226_227delinsCT (p.Leu76=)
c.313_314delinsCT (p.Leu105=)
c.247_248delinsCT (p.Leu83=)
c.259_260delinsCT (p.Leu87=)
c.220_221delinsCT (p.Leu74=)
n.321_322delinsCT
c.28_29delinsCT (p.Leu10=)
n.448_449delinsCT
n.274_275delinsCT
22g.19918918G>ACA513369069TXNRD2c.316C>T (p.Leu106=)
c.226C>T (p.Leu76=)
c.313C>T (p.Leu105=)
c.247C>T (p.Leu83=)
c.259C>T (p.Leu87=)
c.220C>T (p.Leu74=)
n.321C>T
c.28C>T (p.Leu10=)
n.448C>T
n.274C>T
 dbSNP gnomAD v3 gnomAD v4
22g.19918918G>CCA410693820TXNRD2c.316C>G (p.Leu106Val)
c.226C>G (p.Leu76Val)
c.313C>G (p.Leu105Val)
c.247C>G (p.Leu83Val)
c.259C>G (p.Leu87Val)
c.220C>G (p.Leu74Val)
n.321C>G
c.28C>G (p.Leu10Val)
n.448C>G
n.274C>G
22g.19918918G=CA2396103749TXNRD2c.316C= (p.Leu106=)
c.226C= (p.Leu76=)
c.313C= (p.Leu105=)
c.247C= (p.Leu83=)
c.259C= (p.Leu87=)
c.220C= (p.Leu74=)
n.321C=
c.28C= (p.Leu10=)
n.448C=
n.274C=
22g.19918918G>TCA410693821TXNRD2c.316C>A (p.Leu106Met)
c.226C>A (p.Leu76Met)
c.313C>A (p.Leu105Met)
c.247C>A (p.Leu83Met)
c.259C>A (p.Leu87Met)
c.220C>A (p.Leu74Met)
n.321C>A
c.28C>A (p.Leu10Met)
n.448C>A
n.274C>A
22g.19918919delCA638367411TXNRD2c.316del (p.Leu106Ter)
c.226del (p.Leu76Ter)
c.313del (p.Leu105Ter)
c.247del (p.Leu83Ter)
c.259del (p.Leu87Ter)
c.220del (p.Leu74Ter)
n.321del
c.28del (p.Leu10Ter)
n.448del
n.274del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.19918919G>ACA513369072TXNRD2c.315C>T (p.Gly105=)
c.225C>T (p.Gly75=)
c.312C>T (p.Gly104=)
c.246C>T (p.Gly82=)
c.258C>T (p.Gly86=)
c.219C>T (p.Gly73=)
n.320C>T
c.27C>T (p.Gly9=)
n.447C>T
n.273C>T
 dbSNP gnomAD v2 gnomAD v4
22g.19918919G>CCA513369071TXNRD2c.315C>G (p.Gly105=)
c.225C>G (p.Gly75=)
c.312C>G (p.Gly104=)
c.246C>G (p.Gly82=)
c.258C>G (p.Gly86=)
c.219C>G (p.Gly73=)
n.320C>G
c.27C>G (p.Gly9=)
n.447C>G
n.273C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.19918919G=CA2396103750TXNRD2c.315C= (p.Gly105=)
c.225C= (p.Gly75=)
c.312C= (p.Gly104=)
c.246C= (p.Gly82=)
c.258C= (p.Gly86=)
c.219C= (p.Gly73=)
n.320C=
c.27C= (p.Gly9=)
n.447C=
n.273C=
22g.19918919G>TCA513369070TXNRD2c.315C>A (p.Gly105=)
c.225C>A (p.Gly75=)
c.312C>A (p.Gly104=)
c.246C>A (p.Gly82=)
c.258C>A (p.Gly86=)
c.219C>A (p.Gly73=)
n.320C>A
c.27C>A (p.Gly9=)
n.447C>A
n.273C>A
 dbSNP gnomAD v2 gnomAD v4
22g.19918920C>ACA410693823TXNRD2c.314G>T (p.Gly105Val)
c.224G>T (p.Gly75Val)
c.311G>T (p.Gly104Val)
c.245G>T (p.Gly82Val)
c.257G>T (p.Gly86Val)
c.218G>T (p.Gly73Val)
n.319G>T
c.26G>T (p.Gly9Val)
n.446G>T
n.272G>T
22g.19918920C=CA2396103751TXNRD2c.314G= (p.Gly105=)
c.224G= (p.Gly75=)
c.311G= (p.Gly104=)
c.245G= (p.Gly82=)
c.257G= (p.Gly86=)
c.218G= (p.Gly73=)
n.319G=
c.26G= (p.Gly9=)
n.446G=
n.272G=
22g.19918920C>GCA410693825TXNRD2c.314G>C (p.Gly105Ala)
c.224G>C (p.Gly75Ala)
c.311G>C (p.Gly104Ala)
c.245G>C (p.Gly82Ala)
c.257G>C (p.Gly86Ala)
c.218G>C (p.Gly73Ala)
n.319G>C
c.26G>C (p.Gly9Ala)
n.446G>C
n.272G>C
22g.19918920C>TCA10104263TXNRD2c.314G>A (p.Gly105Asp)
c.224G>A (p.Gly75Asp)
c.311G>A (p.Gly104Asp)
c.245G>A (p.Gly82Asp)
c.257G>A (p.Gly86Asp)
c.218G>A (p.Gly73Asp)
n.319G>A
c.26G>A (p.Gly9Asp)
n.446G>A
n.272G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19918921C>ACA410693828TXNRD2c.313G>T (p.Gly105Cys)
c.223G>T (p.Gly75Cys)
c.310G>T (p.Gly104Cys)
c.244G>T (p.Gly82Cys)
c.256G>T (p.Gly86Cys)
c.217G>T (p.Gly73Cys)
n.318G>T
c.25G>T (p.Gly9Cys)
n.445G>T
n.271G>T
22g.19918921C=CA2396103752TXNRD2c.313G= (p.Gly105=)
c.223G= (p.Gly75=)
c.310G= (p.Gly104=)
c.244G= (p.Gly82=)
c.256G= (p.Gly86=)
c.217G= (p.Gly73=)
n.318G=
c.25G= (p.Gly9=)
n.445G=
n.271G=
22g.19918921C>GCA410693829TXNRD2c.313G>C (p.Gly105Arg)
c.223G>C (p.Gly75Arg)
c.310G>C (p.Gly104Arg)
c.244G>C (p.Gly82Arg)
c.256G>C (p.Gly86Arg)
c.217G>C (p.Gly73Arg)
n.318G>C
c.25G>C (p.Gly9Arg)
n.445G>C
n.271G>C
22g.19918921C>TCA410693831TXNRD2c.313G>A (p.Gly105Ser)
c.223G>A (p.Gly75Ser)
c.310G>A (p.Gly104Ser)
c.244G>A (p.Gly82Ser)
c.256G>A (p.Gly86Ser)
c.217G>A (p.Gly73Ser)
n.318G>A
c.25G>A (p.Gly9Ser)
n.445G>A
n.271G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
22g.19918922T>ACA322105576TXNRD2c.312A>T (p.Gly104=)
c.222A>T (p.Gly74=)
c.309A>T (p.Gly103=)
c.243A>T (p.Gly81=)
c.255A>T (p.Gly85=)
c.216A>T (p.Gly72=)
n.317A>T
c.24A>T (p.Gly8=)
n.444A>T
n.270A>T
 dbSNP gnomAD v4
22g.19918922T>CCA513369074TXNRD2c.312A>G (p.Gly104=)
c.222A>G (p.Gly74=)
c.309A>G (p.Gly103=)
c.243A>G (p.Gly81=)
c.255A>G (p.Gly85=)
c.216A>G (p.Gly72=)
n.317A>G
c.24A>G (p.Gly8=)
n.444A>G
n.270A>G
22g.19918922T>GCA513369073TXNRD2c.312A>C (p.Gly104=)
c.222A>C (p.Gly74=)
c.309A>C (p.Gly103=)
c.243A>C (p.Gly81=)
c.255A>C (p.Gly85=)
c.216A>C (p.Gly72=)
n.317A>C
c.24A>C (p.Gly8=)
n.444A>C
n.270A>C
 ClinVar
22g.19918922T=CA2396103753TXNRD2c.312A= (p.Gly104=)
c.222A= (p.Gly74=)
c.309A= (p.Gly103=)
c.243A= (p.Gly81=)
c.255A= (p.Gly85=)
c.216A= (p.Gly72=)
n.317A=
c.24A= (p.Gly8=)
n.444A=
n.270A=
22g.19918923C>ACA410693836TXNRD2c.311G>T (p.Gly104Val)
c.221G>T (p.Gly74Val)
c.308G>T (p.Gly103Val)
c.242G>T (p.Gly81Val)
c.254G>T (p.Gly85Val)
c.215G>T (p.Gly72Val)
n.316G>T
c.23G>T (p.Gly8Val)
n.443G>T
n.269G>T
22g.19918923C=CA2396103754TXNRD2c.311G= (p.Gly104=)
c.221G= (p.Gly74=)
c.308G= (p.Gly103=)
c.242G= (p.Gly81=)
c.254G= (p.Gly85=)
c.215G= (p.Gly72=)
n.316G=
c.23G= (p.Gly8=)
n.443G=
n.269G=
22g.19918923C>GCA410693834TXNRD2c.311G>C (p.Gly104Ala)
c.221G>C (p.Gly74Ala)
c.308G>C (p.Gly103Ala)
c.242G>C (p.Gly81Ala)
c.254G>C (p.Gly85Ala)
c.215G>C (p.Gly72Ala)
n.316G>C
c.23G>C (p.Gly8Ala)
n.443G>C
n.269G>C
22g.19918923C>TCA410693833TXNRD2c.311G>A (p.Gly104Glu)
c.221G>A (p.Gly74Glu)
c.308G>A (p.Gly103Glu)
c.242G>A (p.Gly81Glu)
c.254G>A (p.Gly85Glu)
c.215G>A (p.Gly72Glu)
n.316G>A
c.23G>A (p.Gly8Glu)
n.443G>A
n.269G>A
 dbSNP gnomAD v2 gnomAD v4
22g.19918924C>ACA410693838TXNRD2c.310G>T (p.Gly104Ter)
c.220G>T (p.Gly74Ter)
c.307G>T (p.Gly103Ter)
c.241G>T (p.Gly81Ter)
c.253G>T (p.Gly85Ter)
c.214G>T (p.Gly72Ter)
n.315G>T
c.22G>T (p.Gly8Ter)
n.442G>T
n.268G>T
22g.19918924C>GCA410693839TXNRD2c.310G>C (p.Gly104Arg)
c.220G>C (p.Gly74Arg)
c.307G>C (p.Gly103Arg)
c.241G>C (p.Gly81Arg)
c.253G>C (p.Gly85Arg)
c.214G>C (p.Gly72Arg)
n.315G>C
c.22G>C (p.Gly8Arg)
n.442G>C
n.268G>C
22g.19918924C>TCA410693841TXNRD2c.310G>A (p.Gly104Arg)
c.220G>A (p.Gly74Arg)
c.307G>A (p.Gly103Arg)
c.241G>A (p.Gly81Arg)
c.253G>A (p.Gly85Arg)
c.214G>A (p.Gly72Arg)
n.315G>A
c.22G>A (p.Gly8Arg)
n.442G>A
n.268G>A
22g.19918925C>ACA513369076TXNRD2c.309G>T (p.Leu103=)
c.219G>T (p.Leu73=)
c.306G>T (p.Leu102=)
c.240G>T (p.Leu80=)
c.252G>T (p.Leu84=)
c.213G>T (p.Leu71=)
n.314G>T
c.21G>T (p.Leu7=)
n.441G>T
n.267G>T
22g.19918925C=CA2396103755TXNRD2c.309G= (p.Leu103=)
c.219G= (p.Leu73=)
c.306G= (p.Leu102=)
c.240G= (p.Leu80=)
c.252G= (p.Leu84=)
c.213G= (p.Leu71=)
n.314G=
c.21G= (p.Leu7=)
n.441G=
n.267G=
22g.19918925C>GCA513369075TXNRD2c.309G>C (p.Leu103=)
c.219G>C (p.Leu73=)
c.306G>C (p.Leu102=)
c.240G>C (p.Leu80=)
c.252G>C (p.Leu84=)
c.213G>C (p.Leu71=)
n.314G>C
c.21G>C (p.Leu7=)
n.441G>C
n.267G>C
22g.19918925C>TCA10104264TXNRD2c.309G>A (p.Leu103=)
c.219G>A (p.Leu73=)
c.306G>A (p.Leu102=)
c.240G>A (p.Leu80=)
c.252G>A (p.Leu84=)
c.213G>A (p.Leu71=)
n.314G>A
c.21G>A (p.Leu7=)
n.441G>A
n.267G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
22g.19918926A=CA2396103756TXNRD2c.308T= (p.Leu103=)
c.218T= (p.Leu73=)
c.305T= (p.Leu102=)
c.239T= (p.Leu80=)
c.251T= (p.Leu84=)
c.212T= (p.Leu71=)
n.313T=
c.20T= (p.Leu7=)
n.440T=
n.266T=
22g.19918926A>CCA410693843TXNRD2c.308T>G (p.Leu103Arg)
c.218T>G (p.Leu73Arg)
c.305T>G (p.Leu102Arg)
c.239T>G (p.Leu80Arg)
c.251T>G (p.Leu84Arg)
c.212T>G (p.Leu71Arg)
n.313T>G
c.20T>G (p.Leu7Arg)
n.440T>G
n.266T>G
22g.19918926A>GCA410693845TXNRD2c.308T>C (p.Leu103Pro)
c.218T>C (p.Leu73Pro)
c.305T>C (p.Leu102Pro)
c.239T>C (p.Leu80Pro)
c.251T>C (p.Leu84Pro)
c.212T>C (p.Leu71Pro)
n.313T>C
c.20T>C (p.Leu7Pro)
n.440T>C
n.266T>C
 dbSNP gnomAD v3 gnomAD v4
22g.19918926A>TCA410693846TXNRD2c.308T>A (p.Leu103Gln)
c.218T>A (p.Leu73Gln)
c.305T>A (p.Leu102Gln)
c.239T>A (p.Leu80Gln)
c.251T>A (p.Leu84Gln)
c.212T>A (p.Leu71Gln)
n.313T>A
c.20T>A (p.Leu7Gln)
n.440T>A
n.266T>A
22g.19918927G>ACA10104265TXNRD2c.307C>T (p.Leu103=)
c.217C>T (p.Leu73=)
c.304C>T (p.Leu102=)
c.238C>T (p.Leu80=)
c.250C>T (p.Leu84=)
c.211C>T (p.Leu71=)
n.312C>T
c.19C>T (p.Leu7=)
n.439C>T
n.265C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19918927G>CCA410693848TXNRD2c.307C>G (p.Leu103Val)
c.217C>G (p.Leu73Val)
c.304C>G (p.Leu102Val)
c.238C>G (p.Leu80Val)
c.250C>G (p.Leu84Val)
c.211C>G (p.Leu71Val)
n.312C>G
c.19C>G (p.Leu7Val)
n.439C>G
n.265C>G
22g.19918927G=CA2396103757TXNRD2c.307C= (p.Leu103=)
c.217C= (p.Leu73=)
c.304C= (p.Leu102=)
c.238C= (p.Leu80=)
c.250C= (p.Leu84=)
c.211C= (p.Leu71=)
n.312C=
c.19C= (p.Leu7=)
n.439C=
n.265C=
22g.19918927G>TCA410693850TXNRD2c.307C>A (p.Leu103Met)
c.217C>A (p.Leu73Met)
c.304C>A (p.Leu102Met)
c.238C>A (p.Leu80Met)
c.250C>A (p.Leu84Met)
c.211C>A (p.Leu71Met)
n.312C>A
c.19C>A (p.Leu7Met)
n.439C>A
n.265C>A
22g.19918928C>ACA513369079TXNRD2c.306G>T (p.Leu102=)
c.216G>T (p.Leu72=)
c.303G>T (p.Leu101=)
c.237G>T (p.Leu79=)
c.249G>T (p.Leu83=)
c.210G>T (p.Leu70=)
n.311G>T
c.18G>T (p.Leu6=)
n.438G>T
n.264G>T
 gnomAD v4
22g.19918928C=CA2396103758TXNRD2c.306G= (p.Leu102=)
c.216G= (p.Leu72=)
c.303G= (p.Leu101=)
c.237G= (p.Leu79=)
c.249G= (p.Leu83=)
c.210G= (p.Leu70=)
n.311G=
c.18G= (p.Leu6=)
n.438G=
n.264G=
22g.19918928C>GCA513369078TXNRD2c.306G>C (p.Leu102=)
c.216G>C (p.Leu72=)
c.303G>C (p.Leu101=)
c.237G>C (p.Leu79=)
c.249G>C (p.Leu83=)
c.210G>C (p.Leu70=)
n.311G>C
c.18G>C (p.Leu6=)
n.438G>C
n.264G>C
22g.19918928C>TCA513369077TXNRD2c.306G>A (p.Leu102=)
c.216G>A (p.Leu72=)
c.303G>A (p.Leu101=)
c.237G>A (p.Leu79=)
c.249G>A (p.Leu83=)
c.210G>A (p.Leu70=)
n.311G>A
c.18G>A (p.Leu6=)
n.438G>A
n.264G>A
 dbSNP gnomAD v4
22g.19918929A>CCA410693852TXNRD2c.305T>G (p.Leu102Arg)
c.215T>G (p.Leu72Arg)
c.302T>G (p.Leu101Arg)
c.236T>G (p.Leu79Arg)
c.248T>G (p.Leu83Arg)
c.209T>G (p.Leu70Arg)
n.310T>G
c.17T>G (p.Leu6Arg)
n.437T>G
n.263T>G
22g.19918929A>GCA410693853TXNRD2c.305T>C (p.Leu102Pro)
c.215T>C (p.Leu72Pro)
c.302T>C (p.Leu101Pro)
c.236T>C (p.Leu79Pro)
c.248T>C (p.Leu83Pro)
c.209T>C (p.Leu70Pro)
n.310T>C
c.17T>C (p.Leu6Pro)
n.437T>C
n.263T>C
22g.19918929A>TCA410693855TXNRD2c.305T>A (p.Leu102Gln)
c.215T>A (p.Leu72Gln)
c.302T>A (p.Leu101Gln)
c.236T>A (p.Leu79Gln)
c.248T>A (p.Leu83Gln)
c.209T>A (p.Leu70Gln)
n.310T>A
c.17T>A (p.Leu6Gln)
n.437T>A
n.263T>A
22g.19918930G>ACA513369080TXNRD2c.304C>T (p.Leu102=)
c.214C>T (p.Leu72=)
c.301C>T (p.Leu101=)
c.235C>T (p.Leu79=)
c.247C>T (p.Leu83=)
c.208C>T (p.Leu70=)
n.309C>T
c.16C>T (p.Leu6=)
n.436C>T
n.262C>T
22g.19918930G>CCA410693857TXNRD2c.304C>G (p.Leu102Val)
c.214C>G (p.Leu72Val)
c.301C>G (p.Leu101Val)
c.235C>G (p.Leu79Val)
c.247C>G (p.Leu83Val)
c.208C>G (p.Leu70Val)
n.309C>G
c.16C>G (p.Leu6Val)
n.436C>G
n.262C>G
22g.19918930G>TCA410693858TXNRD2c.304C>A (p.Leu102Met)
c.214C>A (p.Leu72Met)
c.301C>A (p.Leu101Met)
c.235C>A (p.Leu79Met)
c.247C>A (p.Leu83Met)
c.208C>A (p.Leu70Met)
n.309C>A
c.16C>A (p.Leu6Met)
n.436C>A
n.262C>A
 gnomAD v4
22g.19918931T>ACA513369081TXNRD2c.303A>T (p.Ala101=)
c.213A>T (p.Ala71=)
c.300A>T (p.Ala100=)
c.234A>T (p.Ala78=)
c.246A>T (p.Ala82=)
c.207A>T (p.Ala69=)
n.308A>T
c.15A>T (p.Ala5=)
n.435A>T
n.261A>T
22g.19918931T>CCA10104266TXNRD2c.303A>G (p.Ala101=)
c.213A>G (p.Ala71=)
c.300A>G (p.Ala100=)
c.234A>G (p.Ala78=)
c.246A>G (p.Ala82=)
c.207A>G (p.Ala69=)
n.308A>G
c.15A>G (p.Ala5=)
n.435A>G
n.261A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19918931T>GCA10104267TXNRD2c.303A>C (p.Ala101=)
c.213A>C (p.Ala71=)
c.300A>C (p.Ala100=)
c.234A>C (p.Ala78=)
c.246A>C (p.Ala82=)
c.207A>C (p.Ala69=)
n.308A>C
c.15A>C (p.Ala5=)
n.435A>C
n.261A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19918931T=CA2396103759TXNRD2c.303A= (p.Ala101=)
c.213A= (p.Ala71=)
c.300A= (p.Ala100=)
c.234A= (p.Ala78=)
c.246A= (p.Ala82=)
c.207A= (p.Ala69=)
n.308A=
c.15A= (p.Ala5=)
n.435A=
n.261A=
22g.19918932G>ACA410693861TXNRD2c.302C>T (p.Ala101Val)
c.212C>T (p.Ala71Val)
c.299C>T (p.Ala100Val)
c.233C>T (p.Ala78Val)
c.245C>T (p.Ala82Val)
c.206C>T (p.Ala69Val)
n.307C>T
c.14C>T (p.Ala5Val)
n.434C>T
n.260C>T
 dbSNP gnomAD v2
22g.19918932G>CCA410693863TXNRD2c.302C>G (p.Ala101Gly)
c.212C>G (p.Ala71Gly)
c.299C>G (p.Ala100Gly)
c.233C>G (p.Ala78Gly)
c.245C>G (p.Ala82Gly)
c.206C>G (p.Ala69Gly)
n.307C>G
c.14C>G (p.Ala5Gly)
n.434C>G
n.260C>G
22g.19918932G=CA2396103760TXNRD2c.302C= (p.Ala101=)
c.212C= (p.Ala71=)
c.299C= (p.Ala100=)
c.233C= (p.Ala78=)
c.245C= (p.Ala82=)
c.206C= (p.Ala69=)
n.307C=
c.14C= (p.Ala5=)
n.434C=
n.260C=
22g.19918932G>TCA322105577TXNRD2c.302C>A (p.Ala101Glu)
c.212C>A (p.Ala71Glu)
c.299C>A (p.Ala100Glu)
c.233C>A (p.Ala78Glu)
c.245C>A (p.Ala82Glu)
c.206C>A (p.Ala69Glu)
n.307C>A
c.14C>A (p.Ala5Glu)
n.434C>A
n.260C>A
 dbSNP
22g.19918933C>ACA410693865TXNRD2c.301G>T (p.Ala101Ser)
c.211G>T (p.Ala71Ser)
c.298G>T (p.Ala100Ser)
c.232G>T (p.Ala78Ser)
c.244G>T (p.Ala82Ser)
c.205G>T (p.Ala69Ser)
n.306G>T
c.13G>T (p.Ala5Ser)
n.433G>T
n.259G>T
22g.19918933C=CA2396103761TXNRD2c.301G= (p.Ala101=)
c.211G= (p.Ala71=)
c.298G= (p.Ala100=)
c.232G= (p.Ala78=)
c.244G= (p.Ala82=)
c.205G= (p.Ala69=)
n.306G=
c.13G= (p.Ala5=)
n.433G=
n.259G=
22g.19918933C>GCA410693867TXNRD2c.301G>C (p.Ala101Pro)
c.211G>C (p.Ala71Pro)
c.298G>C (p.Ala100Pro)
c.232G>C (p.Ala78Pro)
c.244G>C (p.Ala82Pro)
c.205G>C (p.Ala69Pro)
n.306G>C
c.13G>C (p.Ala5Pro)
n.433G>C
n.259G>C
22g.19918933C>TCA410693869TXNRD2c.301G>A (p.Ala101Thr)
c.211G>A (p.Ala71Thr)
c.298G>A (p.Ala100Thr)
c.232G>A (p.Ala78Thr)
c.244G>A (p.Ala82Thr)
c.205G>A (p.Ala69Thr)
n.306G>A
c.13G>A (p.Ala5Thr)
n.433G>A
n.259G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.19918934C>ACA513369083TXNRD2c.300G>T (p.Ala100=)
c.210G>T (p.Ala70=)
c.297G>T (p.Ala99=)
c.231G>T (p.Ala77=)
c.243G>T (p.Ala81=)
c.204G>T (p.Ala68=)
n.305G>T
c.12G>T (p.Ala4=)
n.432G>T
n.258G>T
 dbSNP
22g.19918934C=CA2396103762TXNRD2c.300G= (p.Ala100=)
c.210G= (p.Ala70=)
c.297G= (p.Ala99=)
c.231G= (p.Ala77=)
c.243G= (p.Ala81=)
c.204G= (p.Ala68=)
n.305G=
c.12G= (p.Ala4=)
n.432G=
n.258G=
22g.19918934C>GCA513369082TXNRD2c.300G>C (p.Ala100=)
c.210G>C (p.Ala70=)
c.297G>C (p.Ala99=)
c.231G>C (p.Ala77=)
c.243G>C (p.Ala81=)
c.204G>C (p.Ala68=)
n.305G>C
c.12G>C (p.Ala4=)
n.432G>C
n.258G>C
 dbSNP
22g.19918934C>TCA322105578TXNRD2c.300G>A (p.Ala100=)
c.210G>A (p.Ala70=)
c.297G>A (p.Ala99=)
c.231G>A (p.Ala77=)
c.243G>A (p.Ala81=)
c.204G>A (p.Ala68=)
n.305G>A
c.12G>A (p.Ala4=)
n.432G>A
n.258G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
22g.19918935G>ACA10104268TXNRD2c.299C>T (p.Ala100Val)
c.209C>T (p.Ala70Val)
c.296C>T (p.Ala99Val)
c.230C>T (p.Ala77Val)
c.242C>T (p.Ala81Val)
c.203C>T (p.Ala68Val)
n.304C>T
c.11C>T (p.Ala4Val)
n.431C>T
n.257C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19918935G>CCA410693870TXNRD2c.299C>G (p.Ala100Gly)
c.209C>G (p.Ala70Gly)
c.296C>G (p.Ala99Gly)
c.230C>G (p.Ala77Gly)
c.242C>G (p.Ala81Gly)
c.203C>G (p.Ala68Gly)
n.304C>G
c.11C>G (p.Ala4Gly)
n.431C>G
n.257C>G
22g.19918935G=CA2396103763TXNRD2c.299C= (p.Ala100=)
c.209C= (p.Ala70=)
c.296C= (p.Ala99=)
c.230C= (p.Ala77=)
c.242C= (p.Ala81=)
c.203C= (p.Ala68=)
n.304C=
c.11C= (p.Ala4=)
n.431C=
n.257C=
22g.19918935G>TCA410693871TXNRD2c.299C>A (p.Ala100Glu)
c.209C>A (p.Ala70Glu)
c.296C>A (p.Ala99Glu)
c.230C>A (p.Ala77Glu)
c.242C>A (p.Ala81Glu)
c.203C>A (p.Ala68Glu)
n.304C>A
c.11C>A (p.Ala4Glu)
n.431C>A
n.257C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.19918936C>ACA410693876TXNRD2c.298G>T (p.Ala100Ser)
c.208G>T (p.Ala70Ser)
c.295G>T (p.Ala99Ser)
c.229G>T (p.Ala77Ser)
c.241G>T (p.Ala81Ser)
c.202G>T (p.Ala68Ser)
n.303G>T
c.10G>T (p.Ala4Ser)
n.430G>T
n.256G>T
22g.19918936C>GCA410693874TXNRD2c.298G>C (p.Ala100Pro)
c.208G>C (p.Ala70Pro)
c.295G>C (p.Ala99Pro)
c.229G>C (p.Ala77Pro)
c.241G>C (p.Ala81Pro)
c.202G>C (p.Ala68Pro)
n.303G>C
c.10G>C (p.Ala4Pro)
n.430G>C
n.256G>C
22g.19918936C>TCA410693873TXNRD2c.298G>A (p.Ala100Thr)
c.208G>A (p.Ala70Thr)
c.295G>A (p.Ala99Thr)
c.229G>A (p.Ala77Thr)
c.241G>A (p.Ala81Thr)
c.202G>A (p.Ala68Thr)
n.303G>A
c.10G>A (p.Ala4Thr)
n.430G>A
n.256G>A
22g.19918937C>ACA410693877TXNRD2c.297G>T (p.Gln99His)
c.207G>T (p.Gln69His)
c.294G>T (p.Gln98His)
c.228G>T (p.Gln76His)
c.240G>T (p.Gln80His)
c.201G>T (p.Gln67His)
n.302G>T
c.9G>T (p.Gln3His)
n.429G>T
n.255G>T
22g.19918937C>GCA410693879TXNRD2c.297G>C (p.Gln99His)
c.207G>C (p.Gln69His)
c.294G>C (p.Gln98His)
c.228G>C (p.Gln76His)
c.240G>C (p.Gln80His)
c.201G>C (p.Gln67His)
n.302G>C
c.9G>C (p.Gln3His)
n.429G>C
n.255G>C
22g.19918937C>TCA513369084TXNRD2c.297G>A (p.Gln99=)
c.207G>A (p.Gln69=)
c.294G>A (p.Gln98=)
c.228G>A (p.Gln76=)
c.240G>A (p.Gln80=)
c.201G>A (p.Gln67=)
n.302G>A
c.9G>A (p.Gln3=)
n.429G>A
n.255G>A
22g.19918938T>ACA410693881TXNRD2c.296A>T (p.Gln99Leu)
c.206A>T (p.Gln69Leu)
c.293A>T (p.Gln98Leu)
c.227A>T (p.Gln76Leu)
c.239A>T (p.Gln80Leu)
c.200A>T (p.Gln67Leu)
n.301A>T
c.8A>T (p.Gln3Leu)
n.428A>T
n.254A>T
22g.19918938T>CCA410693883TXNRD2c.296A>G (p.Gln99Arg)
c.206A>G (p.Gln69Arg)
c.293A>G (p.Gln98Arg)
c.227A>G (p.Gln76Arg)
c.239A>G (p.Gln80Arg)
c.200A>G (p.Gln67Arg)
n.301A>G
c.8A>G (p.Gln3Arg)
n.428A>G
n.254A>G
 gnomAD v4
22g.19918938T>GCA410693884TXNRD2c.296A>C (p.Gln99Pro)
c.206A>C (p.Gln69Pro)
c.293A>C (p.Gln98Pro)
c.227A>C (p.Gln76Pro)
c.239A>C (p.Gln80Pro)
c.200A>C (p.Gln67Pro)
n.301A>C
c.8A>C (p.Gln3Pro)
n.428A>C
n.254A>C
22g.19918939G>ACA410693886TXNRD2c.295C>T (p.Gln99Ter)
c.205C>T (p.Gln69Ter)
c.292C>T (p.Gln98Ter)
c.226C>T (p.Gln76Ter)
c.238C>T (p.Gln80Ter)
c.199C>T (p.Gln67Ter)
n.300C>T
c.7C>T (p.Gln3Ter)
n.427C>T
n.253C>T
 gnomAD v4
22g.19918939G>CCA410693888TXNRD2c.295C>G (p.Gln99Glu)
c.205C>G (p.Gln69Glu)
c.292C>G (p.Gln98Glu)
c.226C>G (p.Gln76Glu)
c.238C>G (p.Gln80Glu)
c.199C>G (p.Gln67Glu)
n.300C>G
c.7C>G (p.Gln3Glu)
n.427C>G
n.253C>G
22g.19918939G>TCA410693889TXNRD2c.295C>A (p.Gln99Lys)
c.205C>A (p.Gln69Lys)
c.292C>A (p.Gln98Lys)
c.226C>A (p.Gln76Lys)
c.238C>A (p.Gln80Lys)
c.199C>A (p.Gln67Lys)
n.300C>A
c.7C>A (p.Gln3Lys)
n.427C>A
n.253C>A
22g.19918940G>ACA513369085TXNRD2c.294C>T (p.His98=)
c.204C>T (p.His68=)
c.291C>T (p.His97=)
c.225C>T (p.His75=)
c.237C>T (p.His79=)
c.198C>T (p.His66=)
n.299C>T
c.6C>T (p.His2=)
n.426C>T
n.252C>T
 dbSNP gnomAD v2
22g.19918940G>CCA410693892TXNRD2c.294C>G (p.His98Gln)
c.204C>G (p.His68Gln)
c.291C>G (p.His97Gln)
c.225C>G (p.His75Gln)
c.237C>G (p.His79Gln)
c.198C>G (p.His66Gln)
n.299C>G
c.6C>G (p.His2Gln)
n.426C>G
n.252C>G
22g.19918940G=CA2396103764TXNRD2c.294C= (p.His98=)
c.204C= (p.His68=)
c.291C= (p.His97=)
c.225C= (p.His75=)
c.237C= (p.His79=)
c.198C= (p.His66=)
n.299C=
c.6C= (p.His2=)
n.426C=
n.252C=
22g.19918940G>TCA410693891TXNRD2c.294C>A (p.His98Gln)
c.204C>A (p.His68Gln)
c.291C>A (p.His97Gln)
c.225C>A (p.His75Gln)
c.237C>A (p.His79Gln)
c.198C>A (p.His66Gln)
n.299C>A
c.6C>A (p.His2Gln)
n.426C>A
n.252C>A
 dbSNP
22g.19918941T>ACA410693894TXNRD2c.293A>T (p.His98Leu)
c.203A>T (p.His68Leu)
c.290A>T (p.His97Leu)
c.224A>T (p.His75Leu)
c.236A>T (p.His79Leu)
c.197A>T (p.His66Leu)
n.298A>T
c.5A>T (p.His2Leu)
n.425A>T
n.251A>T
22g.19918941T>CCA410693895TXNRD2c.293A>G (p.His98Arg)
c.203A>G (p.His68Arg)
c.290A>G (p.His97Arg)
c.224A>G (p.His75Arg)
c.236A>G (p.His79Arg)
c.197A>G (p.His66Arg)
n.298A>G
c.5A>G (p.His2Arg)
n.425A>G
n.251A>G
22g.19918941T>GCA410693896TXNRD2c.293A>C (p.His98Pro)
c.203A>C (p.His68Pro)
c.290A>C (p.His97Pro)
c.224A>C (p.His75Pro)
c.236A>C (p.His79Pro)
c.197A>C (p.His66Pro)
n.298A>C
c.5A>C (p.His2Pro)
n.425A>C
n.251A>C
22g.19918942G>ACA410693898TXNRD2c.292C>T (p.His98Tyr)
c.202C>T (p.His68Tyr)
c.289C>T (p.His97Tyr)
c.223C>T (p.His75Tyr)
c.235C>T (p.His79Tyr)
c.196C>T (p.His66Tyr)
n.297C>T
c.4C>T (p.His2Tyr)
n.424C>T
n.250C>T
 dbSNP gnomAD v2 gnomAD v4
22g.19918942G>CCA410693900TXNRD2c.292C>G (p.His98Asp)
c.202C>G (p.His68Asp)
c.289C>G (p.His97Asp)
c.223C>G (p.His75Asp)
c.235C>G (p.His79Asp)
c.196C>G (p.His66Asp)
n.297C>G
c.4C>G (p.His2Asp)
n.424C>G
n.250C>G
22g.19918942G=CA2396103765TXNRD2c.292C= (p.His98=)
c.202C= (p.His68=)
c.289C= (p.His97=)
c.223C= (p.His75=)
c.235C= (p.His79=)
c.196C= (p.His66=)
n.297C=
c.4C= (p.His2=)
n.424C=
n.250C=
22g.19918942G>TCA410693901TXNRD2c.292C>A (p.His98Asn)
c.202C>A (p.His68Asn)
c.289C>A (p.His97Asn)
c.223C>A (p.His75Asn)
c.235C>A (p.His79Asn)
c.196C>A (p.His66Asn)
n.297C>A
c.4C>A (p.His2Asn)
n.424C>A
n.250C>A
 gnomAD v4
22g.19918943C>ACA410693903TXNRD2c.291G>T (p.Met97Ile)
c.201G>T (p.Met67Ile)
c.288G>T (p.Met96Ile)
c.222G>T (p.Met74Ile)
c.234G>T (p.Met78Ile)
c.195G>T (p.Met65Ile)
n.296G>T
c.3G>T (p.Met1Ile)
n.423G>T
n.249G>T
 gnomAD v4
22g.19918943C>GCA410693905TXNRD2c.291G>C (p.Met97Ile)
c.201G>C (p.Met67Ile)
c.288G>C (p.Met96Ile)
c.222G>C (p.Met74Ile)
c.234G>C (p.Met78Ile)
c.195G>C (p.Met65Ile)
n.296G>C
c.3G>C (p.Met1Ile)
n.423G>C
n.249G>C
22g.19918943C>TCA410693904TXNRD2c.291G>A (p.Met97Ile)
c.201G>A (p.Met67Ile)
c.288G>A (p.Met96Ile)
c.222G>A (p.Met74Ile)
c.234G>A (p.Met78Ile)
c.195G>A (p.Met65Ile)
n.296G>A
c.3G>A (p.Met1Ile)
n.423G>A
n.249G>A
 dbSNP
22g.19918944A>CCA410693906TXNRD2c.290T>G (p.Met97Arg)
c.200T>G (p.Met67Arg)
c.287T>G (p.Met96Arg)
c.221T>G (p.Met74Arg)
c.233T>G (p.Met78Arg)
c.194T>G (p.Met65Arg)
n.295T>G
c.2T>G (p.Met1Arg)
n.422T>G
n.248T>G
22g.19918944A>GCA410693908TXNRD2c.290T>C (p.Met97Thr)
c.200T>C (p.Met67Thr)
c.287T>C (p.Met96Thr)
c.221T>C (p.Met74Thr)
c.233T>C (p.Met78Thr)
c.194T>C (p.Met65Thr)
n.295T>C
c.2T>C (p.Met1Thr)
n.422T>C
n.248T>C
22g.19918944A>TCA410693910TXNRD2c.290T>A (p.Met97Lys)
c.200T>A (p.Met67Lys)
c.287T>A (p.Met96Lys)
c.221T>A (p.Met74Lys)
c.233T>A (p.Met78Lys)
c.194T>A (p.Met65Lys)
n.295T>A
c.2T>A (p.Met1Lys)
n.422T>A
n.248T>A
22g.19918945T>ACA410693912TXNRD2c.289A>T (p.Met97Leu)
c.199A>T (p.Met67Leu)
c.286A>T (p.Met96Leu)
c.220A>T (p.Met74Leu)
c.232A>T (p.Met78Leu)
c.193A>T (p.Met65Leu)
n.294A>T
c.1A>T (p.Met1Leu)
n.421A>T
n.247A>T
 dbSNP
22g.19918945T>CCA410693913TXNRD2c.289A>G (p.Met97Val)
c.199A>G (p.Met67Val)
c.286A>G (p.Met96Val)
c.220A>G (p.Met74Val)
c.232A>G (p.Met78Val)
c.193A>G (p.Met65Val)
n.294A>G
c.1A>G (p.Met1Val)
n.421A>G
n.247A>G
22g.19918945T>GCA410693914TXNRD2c.289A>C (p.Met97Leu)
c.199A>C (p.Met67Leu)
c.286A>C (p.Met96Leu)
c.220A>C (p.Met74Leu)
c.232A>C (p.Met78Leu)
c.193A>C (p.Met65Leu)
n.294A>C
c.1A>C (p.Met1Leu)
n.421A>C
n.247A>C
 dbSNP gnomAD v3 gnomAD v4
22g.19918945T=CA2396103766TXNRD2c.289A= (p.Met97=)
c.199A= (p.Met67=)
c.286A= (p.Met96=)
c.220A= (p.Met74=)
c.232A= (p.Met78=)
c.193A= (p.Met65=)
n.294A=
c.1A= (p.Met1=)
n.421A=
n.247A=
22g.19918946C>ACA513369088TXNRD2c.288G>T (p.Leu96=)
c.198G>T (p.Leu66=)
c.285G>T (p.Leu95=)
c.219G>T (p.Leu73=)
c.231G>T (p.Leu77=)
c.192G>T (p.Leu64=)
n.293G>T
c.-1G>T (n.-1G>T)
n.420G>T
n.246G>T
 gnomAD v4
22g.19918946C>GCA513369087TXNRD2c.288G>C (p.Leu96=)
c.198G>C (p.Leu66=)
c.285G>C (p.Leu95=)
c.219G>C (p.Leu73=)
c.231G>C (p.Leu77=)
c.192G>C (p.Leu64=)
n.293G>C
c.-1G>C (n.-1G>C)
n.420G>C
n.246G>C
22g.19918946C>TCA513369086TXNRD2c.288G>A (p.Leu96=)
c.198G>A (p.Leu66=)
c.285G>A (p.Leu95=)
c.219G>A (p.Leu73=)
c.231G>A (p.Leu77=)
c.192G>A (p.Leu64=)
n.293G>A
c.-1G>A (n.-1G>A)
n.420G>A
n.246G>A
22g.19918947A=CA2396103767TXNRD2c.287T= (p.Leu96=)
c.197T= (p.Leu66=)
c.284T= (p.Leu95=)
c.218T= (p.Leu73=)
c.230T= (p.Leu77=)
c.191T= (p.Leu64=)
n.292T=
c.-2T= (n.-2T=)
n.419T=
n.245T=
22g.19918947A>CCA410693916TXNRD2c.287T>G (p.Leu96Arg)
c.197T>G (p.Leu66Arg)
c.284T>G (p.Leu95Arg)
c.218T>G (p.Leu73Arg)
c.230T>G (p.Leu77Arg)
c.191T>G (p.Leu64Arg)
n.292T>G
c.-2T>G (n.-2T>G)
n.419T>G
n.245T>G
 dbSNP
22g.19918947A>GCA410693918TXNRD2c.287T>C (p.Leu96Pro)
c.197T>C (p.Leu66Pro)
c.284T>C (p.Leu95Pro)
c.218T>C (p.Leu73Pro)
c.230T>C (p.Leu77Pro)
c.191T>C (p.Leu64Pro)
n.292T>C
c.-2T>C (n.-2T>C)
n.419T>C
n.245T>C
 dbSNP
22g.19918947A>TCA410693919TXNRD2c.287T>A (p.Leu96Gln)
c.197T>A (p.Leu66Gln)
c.284T>A (p.Leu95Gln)
c.218T>A (p.Leu73Gln)
c.230T>A (p.Leu77Gln)
c.191T>A (p.Leu64Gln)
n.292T>A
c.-2T>A (n.-2T>A)
n.419T>A
n.245T>A
22g.19918948G>ACA513369089TXNRD2c.286C>T (p.Leu96=)
c.196C>T (p.Leu66=)
c.283C>T (p.Leu95=)
c.217C>T (p.Leu73=)
c.229C>T (p.Leu77=)
c.190C>T (p.Leu64=)
n.291C>T
c.-3C>T (n.-3C>T)
n.418C>T
n.244C>T
 gnomAD v4
22g.19918948G>CCA410693921TXNRD2c.286C>G (p.Leu96Val)
c.196C>G (p.Leu66Val)
c.283C>G (p.Leu95Val)
c.217C>G (p.Leu73Val)
c.229C>G (p.Leu77Val)
c.190C>G (p.Leu64Val)
n.291C>G
c.-3C>G (n.-3C>G)
n.418C>G
n.244C>G
22g.19918948G>TCA410693922TXNRD2c.286C>A (p.Leu96Met)
c.196C>A (p.Leu66Met)
c.283C>A (p.Leu95Met)
c.217C>A (p.Leu73Met)
c.229C>A (p.Leu77Met)
c.190C>A (p.Leu64Met)
n.291C>A
c.-3C>A (n.-3C>A)
n.418C>A
n.244C>A
 gnomAD v4
22g.19918949C>ACA410693923TXNRD2c.285G>T (p.Lys95Asn)
c.195G>T (p.Lys65Asn)
c.282G>T (p.Lys94Asn)
c.216G>T (p.Lys72Asn)
c.228G>T (p.Lys76Asn)
c.189G>T (p.Lys63Asn)
n.290G>T
c.-4G>T (n.-4G>T)
n.417G>T
n.243G>T
22g.19918949C>GCA410693924TXNRD2c.285G>C (p.Lys95Asn)
c.195G>C (p.Lys65Asn)
c.282G>C (p.Lys94Asn)
c.216G>C (p.Lys72Asn)
c.228G>C (p.Lys76Asn)
c.189G>C (p.Lys63Asn)
n.290G>C
c.-4G>C (n.-4G>C)
n.417G>C
n.243G>C
22g.19918949C>TCA513369090TXNRD2c.285G>A (p.Lys95=)
c.195G>A (p.Lys65=)
c.282G>A (p.Lys94=)
c.216G>A (p.Lys72=)
c.228G>A (p.Lys76=)
c.189G>A (p.Lys63=)
n.290G>A
c.-4G>A (n.-4G>A)
n.417G>A
n.243G>A
22g.19918950T>ACA410693926TXNRD2c.284A>T (p.Lys95Met)
c.194A>T (p.Lys65Met)
c.281A>T (p.Lys94Met)
c.215A>T (p.Lys72Met)
c.227A>T (p.Lys76Met)
c.188A>T (p.Lys63Met)
n.289A>T
c.-5A>T (n.-5A>T)
n.416A>T
n.242A>T
22g.19918950T>CCA322105579TXNRD2c.284A>G (p.Lys95Arg)
c.194A>G (p.Lys65Arg)
c.281A>G (p.Lys94Arg)
c.215A>G (p.Lys72Arg)
c.227A>G (p.Lys76Arg)
c.188A>G (p.Lys63Arg)
n.289A>G
c.-5A>G (n.-5A>G)
n.416A>G
n.242A>G
 ClinVar dbSNP gnomAD v2
22g.19918950T>GCA410693927TXNRD2c.284A>C (p.Lys95Thr)
c.194A>C (p.Lys65Thr)
c.281A>C (p.Lys94Thr)
c.215A>C (p.Lys72Thr)
c.227A>C (p.Lys76Thr)
c.188A>C (p.Lys63Thr)
n.289A>C
c.-5A>C (n.-5A>C)
n.416A>C
n.242A>C
22g.19918950T=CA2396103768TXNRD2c.284A= (p.Lys95=)
c.194A= (p.Lys65=)
c.281A= (p.Lys94=)
c.215A= (p.Lys72=)
c.227A= (p.Lys76=)
c.188A= (p.Lys63=)
n.289A=
c.-5A= (n.-5A=)
n.416A=
n.242A=
22g.19918951T>ACA410693928TXNRD2c.283A>T (p.Lys95Ter)
c.193A>T (p.Lys65Ter)
c.280A>T (p.Lys94Ter)
c.214A>T (p.Lys72Ter)
c.226A>T (p.Lys76Ter)
c.187A>T (p.Lys63Ter)
n.288A>T
c.-6A>T (n.-6A>T)
n.415A>T
n.241A>T
22g.19918951T>CCA410693930TXNRD2c.283A>G (p.Lys95Glu)
c.193A>G (p.Lys65Glu)
c.280A>G (p.Lys94Glu)
c.214A>G (p.Lys72Glu)
c.226A>G (p.Lys76Glu)
c.187A>G (p.Lys63Glu)
n.288A>G
c.-6A>G (n.-6A>G)
n.415A>G
n.241A>G
22g.19918951T>GCA410693931TXNRD2c.283A>C (p.Lys95Gln)
c.193A>C (p.Lys65Gln)
c.280A>C (p.Lys94Gln)
c.214A>C (p.Lys72Gln)
c.226A>C (p.Lys76Gln)
c.187A>C (p.Lys63Gln)
n.288A>C
c.-6A>C (n.-6A>C)
n.415A>C
n.241A>C
22g.19918952C>ACA410693934TXNRD2c.282G>T (p.Lys94Asn)
c.192G>T (p.Lys64Asn)
c.279G>T (p.Lys93Asn)
c.213G>T (p.Lys71Asn)
c.225G>T (p.Lys75Asn)
c.186G>T (p.Lys62Asn)
n.287G>T
c.-7G>T (n.-7G>T)
n.414G>T
n.240G>T
22g.19918952C=CA2396103769TXNRD2c.282G= (p.Lys94=)
c.192G= (p.Lys64=)
c.279G= (p.Lys93=)
c.213G= (p.Lys71=)
c.225G= (p.Lys75=)
c.186G= (p.Lys62=)
n.287G=
c.-7G= (n.-7G=)
n.414G=
n.240G=
22g.19918952C>GCA410693933TXNRD2c.282G>C (p.Lys94Asn)
c.192G>C (p.Lys64Asn)
c.279G>C (p.Lys93Asn)
c.213G>C (p.Lys71Asn)
c.225G>C (p.Lys75Asn)
c.186G>C (p.Lys62Asn)
n.287G>C
c.-7G>C (n.-7G>C)
n.414G>C
n.240G>C
22g.19918952C>TCA513369091TXNRD2c.282G>A (p.Lys94=)
c.192G>A (p.Lys64=)
c.279G>A (p.Lys93=)
c.213G>A (p.Lys71=)
c.225G>A (p.Lys75=)
c.186G>A (p.Lys62=)
n.287G>A
c.-7G>A (n.-7G>A)
n.414G>A
n.240G>A
 dbSNP
22g.19918953T>ACA410693935TXNRD2c.281A>T (p.Lys94Met)
c.191A>T (p.Lys64Met)
c.278A>T (p.Lys93Met)
c.212A>T (p.Lys71Met)
c.224A>T (p.Lys75Met)
c.185A>T (p.Lys62Met)
n.286A>T
c.-8A>T (n.-8A>T)
n.413A>T
n.239A>T
22g.19918953T>CCA410693936TXNRD2c.281A>G (p.Lys94Arg)
c.191A>G (p.Lys64Arg)
c.278A>G (p.Lys93Arg)
c.212A>G (p.Lys71Arg)
c.224A>G (p.Lys75Arg)
c.185A>G (p.Lys62Arg)
n.286A>G
c.-8A>G (n.-8A>G)
n.413A>G
n.239A>G
 gnomAD v4
22g.19918953T>GCA410693938TXNRD2c.281A>C (p.Lys94Thr)
c.191A>C (p.Lys64Thr)
c.278A>C (p.Lys93Thr)
c.212A>C (p.Lys71Thr)
c.224A>C (p.Lys75Thr)
c.185A>C (p.Lys62Thr)
n.286A>C
c.-8A>C (n.-8A>C)
n.413A>C
n.239A>C
 dbSNP
22g.19918954T>ACA410693939TXNRD2c.280A>T (p.Lys94Ter)
c.190A>T (p.Lys64Ter)
c.277A>T (p.Lys93Ter)
c.211A>T (p.Lys71Ter)
c.223A>T (p.Lys75Ter)
c.184A>T (p.Lys62Ter)
n.285A>T
c.-9A>T (n.-9A>T)
n.412A>T
n.238A>T
22g.19918954T>CCA410693941TXNRD2c.280A>G (p.Lys94Glu)
c.190A>G (p.Lys64Glu)
c.277A>G (p.Lys93Glu)
c.211A>G (p.Lys71Glu)
c.223A>G (p.Lys75Glu)
c.184A>G (p.Lys62Glu)
n.285A>G
c.-9A>G (n.-9A>G)
n.412A>G
n.238A>G
22g.19918954T>GCA410693943TXNRD2c.280A>C (p.Lys94Gln)
c.190A>C (p.Lys64Gln)
c.277A>C (p.Lys93Gln)
c.211A>C (p.Lys71Gln)
c.223A>C (p.Lys75Gln)
c.184A>C (p.Lys62Gln)
n.285A>C
c.-9A>C (n.-9A>C)
n.412A>C
n.238A>C
22g.19918955G>ACA513369094TXNRD2c.279C>T (p.Pro93=)
c.189C>T (p.Pro63=)
c.276C>T (p.Pro92=)
c.210C>T (p.Pro70=)
c.222C>T (p.Pro74=)
c.183C>T (p.Pro61=)
n.284C>T
c.-10C>T (n.-10C>T)
n.411C>T
n.237C>T
 ClinVar
22g.19918955G>CCA513369093TXNRD2c.279C>G (p.Pro93=)
c.189C>G (p.Pro63=)
c.276C>G (p.Pro92=)
c.210C>G (p.Pro70=)
c.222C>G (p.Pro74=)
c.183C>G (p.Pro61=)
n.284C>G
c.-10C>G (n.-10C>G)
n.411C>G
n.237C>G
 dbSNP
22g.19918955G=CA2396103770TXNRD2c.279C= (p.Pro93=)
c.189C= (p.Pro63=)
c.276C= (p.Pro92=)
c.210C= (p.Pro70=)
c.222C= (p.Pro74=)
c.183C= (p.Pro61=)
n.284C=
c.-10C= (n.-10C=)
n.411C=
n.237C=
22g.19918955G>TCA513369092TXNRD2c.279C>A (p.Pro93=)
c.189C>A (p.Pro63=)
c.276C>A (p.Pro92=)
c.210C>A (p.Pro70=)
c.222C>A (p.Pro74=)
c.183C>A (p.Pro61=)
n.284C>A
c.-10C>A (n.-10C>A)
n.411C>A
n.237C>A
 gnomAD v4
22g.19918956G>ACA410693944TXNRD2c.278C>T (p.Pro93Leu)
c.188C>T (p.Pro63Leu)
c.275C>T (p.Pro92Leu)
c.209C>T (p.Pro70Leu)
c.221C>T (p.Pro74Leu)
c.182C>T (p.Pro61Leu)
n.283C>T
c.-11C>T (n.-11C>T)
n.410C>T
n.236C>T
22g.19918956G>CCA410693947TXNRD2c.278C>G (p.Pro93Arg)
c.188C>G (p.Pro63Arg)
c.275C>G (p.Pro92Arg)
c.209C>G (p.Pro70Arg)
c.221C>G (p.Pro74Arg)
c.182C>G (p.Pro61Arg)
n.283C>G
c.-11C>G (n.-11C>G)
n.410C>G
n.236C>G
22g.19918956G>TCA410693945TXNRD2c.278C>A (p.Pro93His)
c.188C>A (p.Pro63His)
c.275C>A (p.Pro92His)
c.209C>A (p.Pro70His)
c.221C>A (p.Pro74His)
c.182C>A (p.Pro61His)
n.283C>A
c.-11C>A (n.-11C>A)
n.410C>A
n.236C>A
22g.19918957G>ACA410693949TXNRD2c.277C>T (p.Pro93Ser)
c.187C>T (p.Pro63Ser)
c.274C>T (p.Pro92Ser)
c.208C>T (p.Pro70Ser)
c.220C>T (p.Pro74Ser)
c.181C>T (p.Pro61Ser)
n.282C>T
c.-12C>T (n.-12C>T)
n.409C>T
n.235C>T
 dbSNP
22g.19918957G>CCA410693951TXNRD2c.277C>G (p.Pro93Ala)
c.187C>G (p.Pro63Ala)
c.274C>G (p.Pro92Ala)
c.208C>G (p.Pro70Ala)
c.220C>G (p.Pro74Ala)
c.181C>G (p.Pro61Ala)
n.282C>G
c.-12C>G (n.-12C>G)
n.409C>G
n.235C>G
22g.19918957G=CA2396103771TXNRD2c.277C= (p.Pro93=)
c.187C= (p.Pro63=)
c.274C= (p.Pro92=)
c.208C= (p.Pro70=)
c.220C= (p.Pro74=)
c.181C= (p.Pro61=)
n.282C=
c.-12C= (n.-12C=)
n.409C=
n.235C=
22g.19918957G>TCA410693952TXNRD2c.277C>A (p.Pro93Thr)
c.187C>A (p.Pro63Thr)
c.274C>A (p.Pro92Thr)
c.208C>A (p.Pro70Thr)
c.220C>A (p.Pro74Thr)
c.181C>A (p.Pro61Thr)
n.282C>A
c.-12C>A (n.-12C>A)
n.409C>A
n.235C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.19918958G>ACA10104269TXNRD2c.276C>T (p.Ile92=)
c.186C>T (p.Ile62=)
c.273C>T (p.Ile91=)
c.207C>T (p.Ile69=)
c.219C>T (p.Ile73=)
c.180C>T (p.Ile60=)
n.281C>T
c.-13C>T (n.-13C>T)
n.408C>T
n.234C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19918958G>CCA410693955TXNRD2c.276C>G (p.Ile92Met)
c.186C>G (p.Ile62Met)
c.273C>G (p.Ile91Met)
c.207C>G (p.Ile69Met)
c.219C>G (p.Ile73Met)
c.180C>G (p.Ile60Met)
n.281C>G
c.-13C>G (n.-13C>G)
n.408C>G
n.234C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.19918958G=CA2396103772TXNRD2c.276C= (p.Ile92=)
c.186C= (p.Ile62=)
c.273C= (p.Ile91=)
c.207C= (p.Ile69=)
c.219C= (p.Ile73=)
c.180C= (p.Ile60=)
n.281C=
c.-13C= (n.-13C=)
n.408C=
n.234C=
22g.19918958G>TCA513369095TXNRD2c.276C>A (p.Ile92=)
c.186C>A (p.Ile62=)
c.273C>A (p.Ile91=)
c.207C>A (p.Ile69=)
c.219C>A (p.Ile73=)
c.180C>A (p.Ile60=)
n.281C>A
c.-13C>A (n.-13C>A)
n.408C>A
n.234C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.19918959A>CCA410693957TXNRD2c.275T>G (p.Ile92Ser)
c.185T>G (p.Ile62Ser)
c.272T>G (p.Ile91Ser)
c.206T>G (p.Ile69Ser)
c.218T>G (p.Ile73Ser)
c.179T>G (p.Ile60Ser)
n.280T>G
c.-14T>G (n.-14T>G)
n.407T>G
n.233T>G
22g.19918959A>GCA410693958TXNRD2c.275T>C (p.Ile92Thr)
c.185T>C (p.Ile62Thr)
c.272T>C (p.Ile91Thr)
c.206T>C (p.Ile69Thr)
c.218T>C (p.Ile73Thr)
c.179T>C (p.Ile60Thr)
n.280T>C
c.-14T>C (n.-14T>C)
n.407T>C
n.233T>C
22g.19918959A>TCA410693959TXNRD2c.275T>A (p.Ile92Asn)
c.185T>A (p.Ile62Asn)
c.272T>A (p.Ile91Asn)
c.206T>A (p.Ile69Asn)
c.218T>A (p.Ile73Asn)
c.179T>A (p.Ile60Asn)
n.280T>A
c.-14T>A (n.-14T>A)
n.407T>A
n.233T>A
22g.19918960T>ACA410693962TXNRD2c.274A>T (p.Ile92Phe)
c.184A>T (p.Ile62Phe)
c.271A>T (p.Ile91Phe)
c.205A>T (p.Ile69Phe)
c.217A>T (p.Ile73Phe)
c.178A>T (p.Ile60Phe)
n.279A>T
c.-15A>T (n.-15A>T)
n.406A>T
n.232A>T
22g.19918960T>CCA410693963TXNRD2c.274A>G (p.Ile92Val)
c.184A>G (p.Ile62Val)
c.271A>G (p.Ile91Val)
c.205A>G (p.Ile69Val)
c.217A>G (p.Ile73Val)
c.178A>G (p.Ile60Val)
n.279A>G
c.-15A>G (n.-15A>G)
n.406A>G
n.232A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.19918960T>GCA410693965TXNRD2c.274A>C (p.Ile92Leu)
c.184A>C (p.Ile62Leu)
c.271A>C (p.Ile91Leu)
c.205A>C (p.Ile69Leu)
c.217A>C (p.Ile73Leu)
c.178A>C (p.Ile60Leu)
n.279A>C
c.-15A>C (n.-15A>C)
n.406A>C
n.232A>C
22g.19918960T=CA2396103773TXNRD2c.274A= (p.Ile92=)
c.184A= (p.Ile62=)
c.271A= (p.Ile91=)
c.205A= (p.Ile69=)
c.217A= (p.Ile73=)
c.178A= (p.Ile60=)
n.279A=
c.-15A= (n.-15A=)
n.406A=
n.232A=
22g.19918961G>ACA513369096TXNRD2c.273C>T (p.Cys91=)
c.183C>T (p.Cys61=)
c.270C>T (p.Cys90=)
c.204C>T (p.Cys68=)
c.216C>T (p.Cys72=)
c.177C>T (p.Cys59=)
n.278C>T
c.-16C>T (n.-16C>T)
n.405C>T
n.231C>T
 dbSNP gnomAD v2 gnomAD v4
22g.19918961G>CCA410693966TXNRD2c.273C>G (p.Cys91Trp)
c.183C>G (p.Cys61Trp)
c.270C>G (p.Cys90Trp)
c.204C>G (p.Cys68Trp)
c.216C>G (p.Cys72Trp)
c.177C>G (p.Cys59Trp)
n.278C>G
c.-16C>G (n.-16C>G)
n.405C>G
n.231C>G
22g.19918961G=CA2396103774TXNRD2c.273C= (p.Cys91=)
c.183C= (p.Cys61=)
c.270C= (p.Cys90=)
c.204C= (p.Cys68=)
c.216C= (p.Cys72=)
c.177C= (p.Cys59=)
n.278C=
c.-16C= (n.-16C=)
n.405C=
n.231C=
22g.19918961G>TCA410693968TXNRD2c.273C>A (p.Cys91Ter)
c.183C>A (p.Cys61Ter)
c.270C>A (p.Cys90Ter)
c.204C>A (p.Cys68Ter)
c.216C>A (p.Cys72Ter)
c.177C>A (p.Cys59Ter)
n.278C>A
c.-16C>A (n.-16C>A)
n.405C>A
n.231C>A
22g.19918962C>ACA410693970TXNRD2c.272G>T (p.Cys91Phe)
c.182G>T (p.Cys61Phe)
c.269G>T (p.Cys90Phe)
c.203G>T (p.Cys68Phe)
c.215G>T (p.Cys72Phe)
c.176G>T (p.Cys59Phe)
n.277G>T
c.-17G>T (n.-17G>T)
n.404G>T
n.230G>T
22g.19918962C=CA2396103775TXNRD2c.272G= (p.Cys91=)
c.182G= (p.Cys61=)
c.269G= (p.Cys90=)
c.203G= (p.Cys68=)
c.215G= (p.Cys72=)
c.176G= (p.Cys59=)
n.277G=
c.-17G= (n.-17G=)
n.404G=
n.230G=
22g.19918962C>GCA410693973TXNRD2c.272G>C (p.Cys91Ser)
c.182G>C (p.Cys61Ser)
c.269G>C (p.Cys90Ser)
c.203G>C (p.Cys68Ser)
c.215G>C (p.Cys72Ser)
c.176G>C (p.Cys59Ser)
n.277G>C
c.-17G>C (n.-17G>C)
n.404G>C
n.230G>C
 gnomAD v4
22g.19918962C>TCA410693972TXNRD2c.272G>A (p.Cys91Tyr)
c.182G>A (p.Cys61Tyr)
c.269G>A (p.Cys90Tyr)
c.203G>A (p.Cys68Tyr)
c.215G>A (p.Cys72Tyr)
c.176G>A (p.Cys59Tyr)
n.277G>A
c.-17G>A (n.-17G>A)
n.404G>A
n.230G>A
 dbSNP gnomAD v4
22g.19918963A=CA2396103776TXNRD2c.271T= (p.Cys91=)
c.181T= (p.Cys61=)
c.268T= (p.Cys90=)
c.202T= (p.Cys68=)
c.214T= (p.Cys72=)
c.175T= (p.Cys59=)
n.276T=
c.-18T= (n.-18T=)
n.403T=
n.229T=
22g.19918963A>CCA410693976TXNRD2c.271T>G (p.Cys91Gly)
c.181T>G (p.Cys61Gly)
c.268T>G (p.Cys90Gly)
c.202T>G (p.Cys68Gly)
c.214T>G (p.Cys72Gly)
c.175T>G (p.Cys59Gly)
n.276T>G
c.-18T>G (n.-18T>G)
n.403T>G
n.229T>G
22g.19918963A>GCA322105580TXNRD2c.271T>C (p.Cys91Arg)
c.181T>C (p.Cys61Arg)
c.268T>C (p.Cys90Arg)
c.202T>C (p.Cys68Arg)
c.214T>C (p.Cys72Arg)
c.175T>C (p.Cys59Arg)
n.276T>C
c.-18T>C (n.-18T>C)
n.403T>C
n.229T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.19918963A>TCA410693978TXNRD2c.271T>A (p.Cys91Ser)
c.181T>A (p.Cys61Ser)
c.268T>A (p.Cys90Ser)
c.202T>A (p.Cys68Ser)
c.214T>A (p.Cys72Ser)
c.175T>A (p.Cys59Ser)
n.276T>A
c.-18T>A (n.-18T>A)
n.403T>A
n.229T>A
22g.19918964G>ACA513369099TXNRD2c.270C>T (p.Gly90=)
c.180C>T (p.Gly60=)
c.267C>T (p.Gly89=)
c.201C>T (p.Gly67=)
c.213C>T (p.Gly71=)
c.174C>T (p.Gly58=)
n.275C>T
c.-19C>T (n.-19C>T)
n.402C>T
n.228C>T
22g.19918964G>CCA513369098TXNRD2c.270C>G (p.Gly90=)
c.180C>G (p.Gly60=)
c.267C>G (p.Gly89=)
c.201C>G (p.Gly67=)
c.213C>G (p.Gly71=)
c.174C>G (p.Gly58=)
n.275C>G
c.-19C>G (n.-19C>G)
n.402C>G
n.228C>G
 gnomAD v4
22g.19918964G>TCA513369097TXNRD2c.270C>A (p.Gly90=)
c.180C>A (p.Gly60=)
c.267C>A (p.Gly89=)
c.201C>A (p.Gly67=)
c.213C>A (p.Gly71=)
c.174C>A (p.Gly58=)
n.275C>A
c.-19C>A (n.-19C>A)
n.402C>A
n.228C>A
 gnomAD v4
22g.19918965C>ACA410693979TXNRD2c.269G>T (p.Gly90Val)
c.179G>T (p.Gly60Val)
c.266G>T (p.Gly89Val)
c.200G>T (p.Gly67Val)
c.212G>T (p.Gly71Val)
c.173G>T (p.Gly58Val)
n.274G>T
c.-20G>T (n.-20G>T)
n.401G>T
n.227G>T
22g.19918965C=CA2396103777TXNRD2c.269G= (p.Gly90=)
c.179G= (p.Gly60=)
c.266G= (p.Gly89=)
c.200G= (p.Gly67=)
c.212G= (p.Gly71=)
c.173G= (p.Gly58=)
n.274G=
c.-20G= (n.-20G=)
n.401G=
n.227G=
22g.19918965C>GCA410693981TXNRD2c.269G>C (p.Gly90Ala)
c.179G>C (p.Gly60Ala)
c.266G>C (p.Gly89Ala)
c.200G>C (p.Gly67Ala)
c.212G>C (p.Gly71Ala)
c.173G>C (p.Gly58Ala)
n.274G>C
c.-20G>C (n.-20G>C)
n.401G>C
n.227G>C
22g.19918965C>TCA10104270TXNRD2c.269G>A (p.Gly90Asp)
c.179G>A (p.Gly60Asp)
c.266G>A (p.Gly89Asp)
c.200G>A (p.Gly67Asp)
c.212G>A (p.Gly71Asp)
c.173G>A (p.Gly58Asp)
n.274G>A
c.-20G>A (n.-20G>A)
n.401G>A
n.227G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19918966C>ACA410693983TXNRD2c.268G>T (p.Gly90Cys)
c.178G>T (p.Gly60Cys)
c.265G>T (p.Gly89Cys)
c.199G>T (p.Gly67Cys)
c.211G>T (p.Gly71Cys)
c.172G>T (p.Gly58Cys)
n.273G>T
c.-21G>T (n.-21G>T)
n.400G>T
n.226G>T
22g.19918966C=CA2396103778TXNRD2c.268G= (p.Gly90=)
c.178G= (p.Gly60=)
c.265G= (p.Gly89=)
c.199G= (p.Gly67=)
c.211G= (p.Gly71=)
c.172G= (p.Gly58=)
n.273G=
c.-21G= (n.-21G=)
n.400G=
n.226G=
22g.19918966C>GCA410693985TXNRD2c.268G>C (p.Gly90Arg)
c.178G>C (p.Gly60Arg)
c.265G>C (p.Gly89Arg)
c.199G>C (p.Gly67Arg)
c.211G>C (p.Gly71Arg)
c.172G>C (p.Gly58Arg)
n.273G>C
c.-21G>C (n.-21G>C)
n.400G>C
n.226G>C
22g.19918966C>TCA410693986TXNRD2c.268G>A (p.Gly90Ser)
c.178G>A (p.Gly60Ser)
c.265G>A (p.Gly89Ser)
c.199G>A (p.Gly67Ser)
c.211G>A (p.Gly71Ser)
c.172G>A (p.Gly58Ser)
n.273G>A
c.-21G>A (n.-21G>A)
n.400G>A
n.226G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
22g.19918967C>ACA513369101TXNRD2c.267G>T (p.Val89=)
c.177G>T (p.Val59=)
c.264G>T (p.Val88=)
c.198G>T (p.Val66=)
c.210G>T (p.Val70=)
c.171G>T (p.Val57=)
n.272G>T
c.-22G>T (n.-22G>T)
n.399G>T
n.225G>T
 dbSNP gnomAD v4
22g.19918967C=CA2396103779TXNRD2c.267G= (p.Val89=)
c.177G= (p.Val59=)
c.264G= (p.Val88=)
c.198G= (p.Val66=)
c.210G= (p.Val70=)
c.171G= (p.Val57=)
n.272G=
c.-22G= (n.-22G=)
n.399G=
n.225G=
22g.19918967C>GCA513369100TXNRD2c.267G>C (p.Val89=)
c.177G>C (p.Val59=)
c.264G>C (p.Val88=)
c.198G>C (p.Val66=)
c.210G>C (p.Val70=)
c.171G>C (p.Val57=)
n.272G>C
c.-22G>C (n.-22G>C)
n.399G>C
n.225G>C
 dbSNP gnomAD v3 gnomAD v4
22g.19918967C>TCA10104271TXNRD2c.267G>A (p.Val89=)
c.177G>A (p.Val59=)
c.264G>A (p.Val88=)
c.198G>A (p.Val66=)
c.210G>A (p.Val70=)
c.171G>A (p.Val57=)
n.272G>A
c.-22G>A (n.-22G>A)
n.399G>A
n.225G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19918968A>CCA410693988TXNRD2c.266T>G (p.Val89Gly)
c.176T>G (p.Val59Gly)
c.263T>G (p.Val88Gly)
c.197T>G (p.Val66Gly)
c.209T>G (p.Val70Gly)
c.170T>G (p.Val57Gly)
n.271T>G
c.-23T>G (n.-23T>G)
n.398T>G
n.224T>G
22g.19918968A>GCA410693990TXNRD2c.266T>C (p.Val89Ala)
c.176T>C (p.Val59Ala)
c.263T>C (p.Val88Ala)
c.197T>C (p.Val66Ala)
c.209T>C (p.Val70Ala)
c.170T>C (p.Val57Ala)
n.271T>C
c.-23T>C (n.-23T>C)
n.398T>C
n.224T>C
22g.19918968A>TCA410693992TXNRD2c.266T>A (p.Val89Glu)
c.176T>A (p.Val59Glu)
c.263T>A (p.Val88Glu)
c.197T>A (p.Val66Glu)
c.209T>A (p.Val70Glu)
c.170T>A (p.Val57Glu)
n.271T>A
c.-23T>A (n.-23T>A)
n.398T>A
n.224T>A
22g.19918969C>ACA410693995TXNRD2c.265G>T (p.Val89Leu)
c.175G>T (p.Val59Leu)
c.262G>T (p.Val88Leu)
c.196G>T (p.Val66Leu)
c.208G>T (p.Val70Leu)
c.169G>T (p.Val57Leu)
n.270G>T
c.-24G>T (n.-24G>T)
n.397G>T
n.223G>T
22g.19918969C=CA2396103780TXNRD2c.265G= (p.Val89=)
c.175G= (p.Val59=)
c.262G= (p.Val88=)
c.196G= (p.Val66=)
c.208G= (p.Val70=)
c.169G= (p.Val57=)
n.270G=
c.-24G= (n.-24G=)
n.397G=
n.223G=
22g.19918969C>GCA410693993TXNRD2c.265G>C (p.Val89Leu)
c.175G>C (p.Val59Leu)
c.262G>C (p.Val88Leu)
c.196G>C (p.Val66Leu)
c.208G>C (p.Val70Leu)
c.169G>C (p.Val57Leu)
n.270G>C
c.-24G>C (n.-24G>C)
n.397G>C
n.223G>C
22g.19918969C>TCA10104272TXNRD2c.265G>A (p.Val89Met)
c.175G>A (p.Val59Met)
c.262G>A (p.Val88Met)
c.196G>A (p.Val66Met)
c.208G>A (p.Val70Met)
c.169G>A (p.Val57Met)
n.270G>A
c.-24G>A (n.-24G>A)
n.397G>A
n.223G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19918970G>ACA10104273TXNRD2c.264C>T (p.Asn88=)
c.174C>T (p.Asn58=)
c.261C>T (p.Asn87=)
c.195C>T (p.Asn65=)
c.207C>T (p.Asn69=)
c.168C>T (p.Asn56=)
n.269C>T
c.-25C>T (n.-25C>T)
n.396C>T
n.222C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19918970G>CCA410693997TXNRD2c.264C>G (p.Asn88Lys)
c.174C>G (p.Asn58Lys)
c.261C>G (p.Asn87Lys)
c.195C>G (p.Asn65Lys)
c.207C>G (p.Asn69Lys)
c.168C>G (p.Asn56Lys)
n.269C>G
c.-25C>G (n.-25C>G)
n.396C>G
n.222C>G
22g.19918970G=CA2396103781TXNRD2c.264C= (p.Asn88=)
c.174C= (p.Asn58=)
c.261C= (p.Asn87=)
c.195C= (p.Asn65=)
c.207C= (p.Asn69=)
c.168C= (p.Asn56=)
n.269C=
c.-25C= (n.-25C=)
n.396C=
n.222C=
22g.19918970G>TCA410693998TXNRD2c.264C>A (p.Asn88Lys)
c.174C>A (p.Asn58Lys)
c.261C>A (p.Asn87Lys)
c.195C>A (p.Asn65Lys)
c.207C>A (p.Asn69Lys)
c.168C>A (p.Asn56Lys)
n.269C>A
c.-25C>A (n.-25C>A)
n.396C>A
n.222C>A
 dbSNP gnomAD v4
22g.19918971T>ACA410693999TXNRD2c.263A>T (p.Asn88Ile)
c.173A>T (p.Asn58Ile)
c.260A>T (p.Asn87Ile)
c.194A>T (p.Asn65Ile)
c.206A>T (p.Asn69Ile)
c.167A>T (p.Asn56Ile)
n.268A>T
c.-26A>T (n.-26A>T)
n.395A>T
n.221A>T
22g.19918971T>CCA410694001TXNRD2c.263A>G (p.Asn88Ser)
c.173A>G (p.Asn58Ser)
c.260A>G (p.Asn87Ser)
c.194A>G (p.Asn65Ser)
c.206A>G (p.Asn69Ser)
c.167A>G (p.Asn56Ser)
n.268A>G
c.-26A>G (n.-26A>G)
n.395A>G
n.221A>G
 dbSNP gnomAD v2 gnomAD v4
22g.19918971T>GCA410694003TXNRD2c.263A>C (p.Asn88Thr)
c.173A>C (p.Asn58Thr)
c.260A>C (p.Asn87Thr)
c.194A>C (p.Asn65Thr)
c.206A>C (p.Asn69Thr)
c.167A>C (p.Asn56Thr)
n.268A>C
c.-26A>C (n.-26A>C)
n.395A>C
n.221A>C
 dbSNP gnomAD v3 gnomAD v4
22g.19918971T=CA2396103782TXNRD2c.263A= (p.Asn88=)
c.173A= (p.Asn58=)
c.260A= (p.Asn87=)
c.194A= (p.Asn65=)
c.206A= (p.Asn69=)
c.167A= (p.Asn56=)
n.268A=
c.-26A= (n.-26A=)
n.395A=
n.221A=
22g.19918972T>ACA410694005TXNRD2c.262A>T (p.Asn88Tyr)
c.172A>T (p.Asn58Tyr)
c.259A>T (p.Asn87Tyr)
c.193A>T (p.Asn65Tyr)
c.205A>T (p.Asn69Tyr)
c.166A>T (p.Asn56Tyr)
n.267A>T
c.-27A>T (n.-27A>T)
n.394A>T
n.220A>T
22g.19918972T>CCA410694006TXNRD2c.262A>G (p.Asn88Asp)
c.172A>G (p.Asn58Asp)
c.259A>G (p.Asn87Asp)
c.193A>G (p.Asn65Asp)
c.205A>G (p.Asn69Asp)
c.166A>G (p.Asn56Asp)
n.267A>G
c.-27A>G (n.-27A>G)
n.394A>G
n.220A>G
22g.19918972T>GCA410694008TXNRD2c.262A>C (p.Asn88His)
c.172A>C (p.Asn58His)
c.259A>C (p.Asn87His)
c.193A>C (p.Asn65His)
c.205A>C (p.Asn69His)
c.166A>C (p.Asn56His)
n.267A>C
c.-27A>C (n.-27A>C)
n.394A>C
n.220A>C
22g.19918972_19918973insCAGGCAGGTGCCGCCCAGGTACTGCTCTTCCA2818401268TXNRD2c.261_262insGAAGAGCAGTACCTGGGCGGCACCTGCCTG (p.Val87_Asn88insGluGluGlnTyrLeuGlyGlyThrCysLeu)
c.171_172insGAAGAGCAGTACCTGGGCGGCACCTGCCTG (p.Val57_Asn58insGluGluGlnTyrLeuGlyGlyThrCysLeu)
c.258_259insGAAGAGCAGTACCTGGGCGGCACCTGCCTG (p.Val86_Asn87insGluGluGlnTyrLeuGlyGlyThrCysLeu)
c.192_193insGAAGAGCAGTACCTGGGCGGCACCTGCCTG (p.Val64_Asn65insGluGluGlnTyrLeuGlyGlyThrCysLeu)
c.204_205insGAAGAGCAGTACCTGGGCGGCACCTGCCTG (p.Val68_Asn69insGluGluGlnTyrLeuGlyGlyThrCysLeu)
c.165_166insGAAGAGCAGTACCTGGGCGGCACCTGCCTG (p.Val55_Asn56insGluGluGlnTyrLeuGlyGlyThrCysLeu)
n.266_267insGAAGAGCAGTACCTGGGCGGCACCTGCCTG
c.-28_-27insGAAGAGCAGTACCTGGGCGGCACCTGCCTG (n.-28_-27insGAAGAGCAGTACCTGGGCGGCACCTGCCTG)
n.393_394insGAAGAGCAGTACCTGGGCGGCACCTGCCTG
n.219_220insGAAGAGCAGTACCTGGGCGGCACCTGCCTG
22g.19918972_19918973insCAGGCAGGTGCCGCCCAGGTACTGTTCCTCCA2534693394TXNRD2c.261_262insGAGGAACAGTACCTGGGCGGCACCTGCCTG (p.Val87_Asn88insGluGluGlnTyrLeuGlyGlyThrCysLeu)
c.171_172insGAGGAACAGTACCTGGGCGGCACCTGCCTG (p.Val57_Asn58insGluGluGlnTyrLeuGlyGlyThrCysLeu)
c.258_259insGAGGAACAGTACCTGGGCGGCACCTGCCTG (p.Val86_Asn87insGluGluGlnTyrLeuGlyGlyThrCysLeu)
c.192_193insGAGGAACAGTACCTGGGCGGCACCTGCCTG (p.Val64_Asn65insGluGluGlnTyrLeuGlyGlyThrCysLeu)
c.204_205insGAGGAACAGTACCTGGGCGGCACCTGCCTG (p.Val68_Asn69insGluGluGlnTyrLeuGlyGlyThrCysLeu)
c.165_166insGAGGAACAGTACCTGGGCGGCACCTGCCTG (p.Val55_Asn56insGluGluGlnTyrLeuGlyGlyThrCysLeu)
n.266_267insGAGGAACAGTACCTGGGCGGCACCTGCCTG
c.-28_-27insGAGGAACAGTACCTGGGCGGCACCTGCCTG (n.-28_-27insGAGGAACAGTACCTGGGCGGCACCTGCCTG)
n.393_394insGAGGAACAGTACCTGGGCGGCACCTGCCTG
n.219_220insGAGGAACAGTACCTGGGCGGCACCTGCCTG
22g.19918972_19918973insCAGGCAGGTGCCGCCCAGGTACTGCTCCTCCA2516644447TXNRD2c.261_262insGAGGAGCAGTACCTGGGCGGCACCTGCCTG (p.Val87_Asn88insGluGluGlnTyrLeuGlyGlyThrCysLeu)
c.171_172insGAGGAGCAGTACCTGGGCGGCACCTGCCTG (p.Val57_Asn58insGluGluGlnTyrLeuGlyGlyThrCysLeu)
c.258_259insGAGGAGCAGTACCTGGGCGGCACCTGCCTG (p.Val86_Asn87insGluGluGlnTyrLeuGlyGlyThrCysLeu)
c.192_193insGAGGAGCAGTACCTGGGCGGCACCTGCCTG (p.Val64_Asn65insGluGluGlnTyrLeuGlyGlyThrCysLeu)
c.204_205insGAGGAGCAGTACCTGGGCGGCACCTGCCTG (p.Val68_Asn69insGluGluGlnTyrLeuGlyGlyThrCysLeu)
c.165_166insGAGGAGCAGTACCTGGGCGGCACCTGCCTG (p.Val55_Asn56insGluGluGlnTyrLeuGlyGlyThrCysLeu)
n.266_267insGAGGAGCAGTACCTGGGCGGCACCTGCCTG
c.-28_-27insGAGGAGCAGTACCTGGGCGGCACCTGCCTG (n.-28_-27insGAGGAGCAGTACCTGGGCGGCACCTGCCTG)
n.393_394insGAGGAGCAGTACCTGGGCGGCACCTGCCTG
n.219_220insGAGGAGCAGTACCTGGGCGGCACCTGCCTG
22g.19918973G>ACA513369103TXNRD2c.261C>T (p.Val87=)
c.171C>T (p.Val57=)
c.258C>T (p.Val86=)
c.192C>T (p.Val64=)
c.204C>T (p.Val68=)
c.165C>T (p.Val55=)
n.266C>T
c.-28C>T (n.-28C>T)
n.393C>T
n.219C>T
 dbSNP gnomAD v2 gnomAD v4
22g.19918973G>CCA322105581TXNRD2c.261C>G (p.Val87=)
c.171C>G (p.Val57=)
c.258C>G (p.Val86=)
c.192C>G (p.Val64=)
c.204C>G (p.Val68=)
c.165C>G (p.Val55=)
n.266C>G
c.-28C>G (n.-28C>G)
n.393C>G
n.219C>G
 dbSNP gnomAD v4
22g.19918973G=CA2396103783TXNRD2c.261C= (p.Val87=)
c.171C= (p.Val57=)
c.258C= (p.Val86=)
c.192C= (p.Val64=)
c.204C= (p.Val68=)
c.165C= (p.Val55=)
n.266C=
c.-28C= (n.-28C=)
n.393C=
n.219C=
22g.19918973G>TCA513369102TXNRD2c.261C>A (p.Val87=)
c.171C>A (p.Val57=)
c.258C>A (p.Val86=)
c.192C>A (p.Val64=)
c.204C>A (p.Val68=)
c.165C>A (p.Val55=)
n.266C>A
c.-28C>A (n.-28C>A)
n.393C>A
n.219C>A
22g.19918974A>CCA410694010TXNRD2c.260T>G (p.Val87Gly)
c.170T>G (p.Val57Gly)
c.257T>G (p.Val86Gly)
c.191T>G (p.Val64Gly)
c.203T>G (p.Val68Gly)
c.164T>G (p.Val55Gly)
n.265T>G
c.-29T>G (n.-29T>G)
n.392T>G
n.218T>G
22g.19918974A>GCA410694011TXNRD2c.260T>C (p.Val87Ala)
c.170T>C (p.Val57Ala)
c.257T>C (p.Val86Ala)
c.191T>C (p.Val64Ala)
c.203T>C (p.Val68Ala)
c.164T>C (p.Val55Ala)
n.265T>C
c.-29T>C (n.-29T>C)
n.392T>C
n.218T>C
22g.19918974A>TCA410694012TXNRD2c.260T>A (p.Val87Asp)
c.170T>A (p.Val57Asp)
c.257T>A (p.Val86Asp)
c.191T>A (p.Val64Asp)
c.203T>A (p.Val68Asp)
c.164T>A (p.Val55Asp)
n.265T>A
c.-29T>A (n.-29T>A)
n.392T>A
n.218T>A
22g.19918974_19918975insATGGATGGCCGCGATTCTGGTCACCCCCAACCTCCGCCTCCCGGGTTCAAGCTTTTCTCCTGCCTCAGCCTCCCCGAGTACCTGGAGTATAGGGCAGGCGCAACCATGCCCGGCTAATTTTGTATTTGAGTAGAGATGGGATTTTCTCCAGGTTGGGCAGGCTGGTCTTGAACTCCCAACCTCAGGTGATCCGCGCGCCGCCGCCCTGGGCCTCCCAAAGTGCTGGGATTACACTGTGAGCCACAGTGCCACGGCCTATTTTTATTTTTAATTTAAAAAAAATTGTTAGGCTGAGTGTGGTGGCTCACACCGTAATGCCCAAGCACTTTTGCAGAGCCGGAGGCGGGCATAACCTGAGTCAGGAGTTCAAACAGTCTGTGGCCCAACATGGTGAAACCCTGTTCCTCTACTAAAAATACAAAAACTTAGCTCCGGTGTGGTGGCACACCCTGTAATCCCAGCTACTAAGGAAGCTGAGCCAAGAATCACGTTGAACCCGGGTGGCAGTTGGCAAGTGAGCCAAGATTGCACCACTGCACTCCACCTGGCTGACAGAGCCGGACCTCTTTCTCAATTTAAAAAAAAAACTGTGAGAATAATTTTCTCACTCTGTTGCCGCTGGGAGTGCACA1139638243TXNRD2c.260_261insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT (p.Asn88HisfsTer19)
c.170_171insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT (p.Asn58HisfsTer19)
c.257_258insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT (p.Asn87HisfsTer19)
c.191_192insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT (p.Asn65HisfsTer19)
c.203_204insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT (p.Asn69HisfsTer19)
c.164_165insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT (p.Asn56HisfsTer19)
n.265_266insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT
c.-29_-28insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT (n.-29_-28insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT)
n.392_393insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT
n.218_219insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT
22g.19918975C>ACA410694013TXNRD2c.259G>T (p.Val87Phe)
c.169G>T (p.Val57Phe)
c.256G>T (p.Val86Phe)
c.190G>T (p.Val64Phe)
c.202G>T (p.Val68Phe)
c.163G>T (p.Val55Phe)
n.264G>T
c.-30G>T (n.-30G>T)
n.391G>T
n.217G>T
22g.19918975C=CA2396103784TXNRD2c.259G= (p.Val87=)
c.169G= (p.Val57=)
c.256G= (p.Val86=)
c.190G= (p.Val64=)
c.202G= (p.Val68=)
c.163G= (p.Val55=)
n.264G=
c.-30G= (n.-30G=)
n.391G=
n.217G=
22g.19918975C>GCA322105582TXNRD2c.259G>C (p.Val87Leu)
c.169G>C (p.Val57Leu)
c.256G>C (p.Val86Leu)
c.190G>C (p.Val64Leu)
c.202G>C (p.Val68Leu)
c.163G>C (p.Val55Leu)
n.264G>C
c.-30G>C (n.-30G>C)
n.391G>C
n.217G>C
 dbSNP gnomAD v4
22g.19918975C>TCA10104274TXNRD2c.259G>A (p.Val87Ile)
c.169G>A (p.Val57Ile)
c.256G>A (p.Val86Ile)
c.190G>A (p.Val64Ile)
c.202G>A (p.Val68Ile)
c.163G>A (p.Val55Ile)
n.264G>A
c.-30G>A (n.-30G>A)
n.391G>A
n.217G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19918976G>ACA10104275TXNRD2c.258C>T (p.Cys86=)
c.168C>T (p.Cys56=)
c.255C>T (p.Cys85=)
c.189C>T (p.Cys63=)
c.201C>T (p.Cys67=)
c.162C>T (p.Cys54=)
n.263C>T
c.-31C>T (n.-31C>T)
n.390C>T
n.216C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19918976G>CCA410694017TXNRD2c.258C>G (p.Cys86Trp)
c.168C>G (p.Cys56Trp)
c.255C>G (p.Cys85Trp)
c.189C>G (p.Cys63Trp)
c.201C>G (p.Cys67Trp)
c.162C>G (p.Cys54Trp)
n.263C>G
c.-31C>G (n.-31C>G)
n.390C>G
n.216C>G
22g.19918976G=CA2396103785TXNRD2c.258C= (p.Cys86=)
c.168C= (p.Cys56=)
c.255C= (p.Cys85=)
c.189C= (p.Cys63=)
c.201C= (p.Cys67=)
c.162C= (p.Cys54=)
n.263C=
c.-31C= (n.-31C=)
n.390C=
n.216C=
22g.19918976G>TCA410694019TXNRD2c.258C>A (p.Cys86Ter)
c.168C>A (p.Cys56Ter)
c.255C>A (p.Cys85Ter)
c.189C>A (p.Cys63Ter)
c.201C>A (p.Cys67Ter)
c.162C>A (p.Cys54Ter)
n.263C>A
c.-31C>A (n.-31C>A)
n.390C>A
n.216C>A
 gnomAD v4
22g.19918976_19918977insAGGGCGACCTTCTTGCCCGCGTGTCCGAGGCGCTCGGCGGCCA2509236627TXNRD2c.257_258insGCCGCCGAGCGCCTCGGACACGCGGGCAAGAAGGTCGCCCT (p.Cys86TrpfsTer25)
c.167_168insGCCGCCGAGCGCCTCGGACACGCGGGCAAGAAGGTCGCCCT (p.Cys56TrpfsTer25)
c.254_255insGCCGCCGAGCGCCTCGGACACGCGGGCAAGAAGGTCGCCCT (p.Cys85TrpfsTer25)
c.188_189insGCCGCCGAGCGCCTCGGACACGCGGGCAAGAAGGTCGCCCT (p.Cys63TrpfsTer25)
c.200_201insGCCGCCGAGCGCCTCGGACACGCGGGCAAGAAGGTCGCCCT (p.Cys67TrpfsTer25)
c.161_162insGCCGCCGAGCGCCTCGGACACGCGGGCAAGAAGGTCGCCCT (p.Cys54TrpfsTer25)
n.262_263insGCCGCCGAGCGCCTCGGACACGCGGGCAAGAAGGTCGCCCT
c.-32_-31insGCCGCCGAGCGCCTCGGACACGCGGGCAAGAAGGTCGCCCT (n.-32_-31insGCCGCCGAGCGCCTCGGACACGCGGGCAAGAAGGTCGCCCT)
n.389_390insGCCGCCGAGCGCCTCGGACACGCGGGCAAGAAGGTCGCCCT
n.215_216insGCCGCCGAGCGCCTCGGACACGCGGGCAAGAAGGTCGCCCT
22g.19918976_19918977insAGGGCTACCTTCTTACCCGCGTGGCCGAGGCGTTCGGCGGCCA2512198593TXNRD2c.257_258insGCCGCCGAACGCCTCGGCCACGCGGGTAAGAAGGTAGCCCT (p.Cys86TrpfsTer13)
c.167_168insGCCGCCGAACGCCTCGGCCACGCGGGTAAGAAGGTAGCCCT (p.Cys56TrpfsTer13)
c.254_255insGCCGCCGAACGCCTCGGCCACGCGGGTAAGAAGGTAGCCCT (p.Cys85TrpfsTer13)
c.188_189insGCCGCCGAACGCCTCGGCCACGCGGGTAAGAAGGTAGCCCT (p.Cys63TrpfsTer13)
c.200_201insGCCGCCGAACGCCTCGGCCACGCGGGTAAGAAGGTAGCCCT (p.Cys67TrpfsTer13)
c.161_162insGCCGCCGAACGCCTCGGCCACGCGGGTAAGAAGGTAGCCCT (p.Cys54TrpfsTer13)
n.262_263insGCCGCCGAACGCCTCGGCCACGCGGGTAAGAAGGTAGCCCT
c.-32_-31insGCCGCCGAACGCCTCGGCCACGCGGGTAAGAAGGTAGCCCT (n.-32_-31insGCCGCCGAACGCCTCGGCCACGCGGGTAAGAAGGTAGCCCT)
n.389_390insGCCGCCGAACGCCTCGGCCACGCGGGTAAGAAGGTAGCCCT
n.215_216insGCCGCCGAACGCCTCGGCCACGCGGGTAAGAAGGTAGCCCT
22g.19918976_19918977insAGGGCGACCTTCTTGCCCGCATGTCCGAGGCGCTCGGCGGCCA2546682984TXNRD2c.257_258insGCCGCCGAGCGCCTCGGACATGCGGGCAAGAAGGTCGCCCT (p.Cys86TrpfsTer25)
c.167_168insGCCGCCGAGCGCCTCGGACATGCGGGCAAGAAGGTCGCCCT (p.Cys56TrpfsTer25)
c.254_255insGCCGCCGAGCGCCTCGGACATGCGGGCAAGAAGGTCGCCCT (p.Cys85TrpfsTer25)
c.188_189insGCCGCCGAGCGCCTCGGACATGCGGGCAAGAAGGTCGCCCT (p.Cys63TrpfsTer25)
c.200_201insGCCGCCGAGCGCCTCGGACATGCGGGCAAGAAGGTCGCCCT (p.Cys67TrpfsTer25)
c.161_162insGCCGCCGAGCGCCTCGGACATGCGGGCAAGAAGGTCGCCCT (p.Cys54TrpfsTer25)
n.262_263insGCCGCCGAGCGCCTCGGACATGCGGGCAAGAAGGTCGCCCT
c.-32_-31insGCCGCCGAGCGCCTCGGACATGCGGGCAAGAAGGTCGCCCT (n.-32_-31insGCCGCCGAGCGCCTCGGACATGCGGGCAAGAAGGTCGCCCT)
n.389_390insGCCGCCGAGCGCCTCGGACATGCGGGCAAGAAGGTCGCCCT
n.215_216insGCCGCCGAGCGCCTCGGACATGCGGGCAAGAAGGTCGCCCT
22g.19918977C>ACA410694021TXNRD2c.257G>T (p.Cys86Phe)
c.167G>T (p.Cys56Phe)
c.254G>T (p.Cys85Phe)
c.188G>T (p.Cys63Phe)
c.200G>T (p.Cys67Phe)
c.161G>T (p.Cys54Phe)
n.262G>T
c.-32G>T (n.-32G>T)
n.389G>T
n.215G>T
22g.19918977C=CA2396103786TXNRD2c.257G= (p.Cys86=)
c.167G= (p.Cys56=)
c.254G= (p.Cys85=)
c.188G= (p.Cys63=)
c.200G= (p.Cys67=)
c.161G= (p.Cys54=)
n.262G=
c.-32G= (n.-32G=)
n.389G=
n.215G=
22g.19918977C>GCA410694022TXNRD2c.257G>C (p.Cys86Ser)
c.167G>C (p.Cys56Ser)
c.254G>C (p.Cys85Ser)
c.188G>C (p.Cys63Ser)
c.200G>C (p.Cys67Ser)
c.161G>C (p.Cys54Ser)
n.262G>C
c.-32G>C (n.-32G>C)
n.389G>C
n.215G>C
22g.19918977C>TCA410694023TXNRD2c.257G>A (p.Cys86Tyr)
c.167G>A (p.Cys56Tyr)
c.254G>A (p.Cys85Tyr)
c.188G>A (p.Cys63Tyr)
c.200G>A (p.Cys67Tyr)
c.161G>A (p.Cys54Tyr)
n.262G>A
c.-32G>A (n.-32G>A)
n.389G>A
n.215G>A
 dbSNP gnomAD v4
22g.19918978A>CCA410694026TXNRD2c.256T>G (p.Cys86Gly)
c.166T>G (p.Cys56Gly)
c.253T>G (p.Cys85Gly)
c.187T>G (p.Cys63Gly)
c.199T>G (p.Cys67Gly)
c.160T>G (p.Cys54Gly)
n.261T>G
c.-33T>G (n.-33T>G)
n.388T>G
n.214T>G
22g.19918978A>GCA410694028TXNRD2c.256T>C (p.Cys86Arg)
c.166T>C (p.Cys56Arg)
c.253T>C (p.Cys85Arg)
c.187T>C (p.Cys63Arg)
c.199T>C (p.Cys67Arg)
c.160T>C (p.Cys54Arg)
n.261T>C
c.-33T>C (n.-33T>C)
n.388T>C
n.214T>C
 gnomAD v4 COSMIC COSMIC
22g.19918978A>TCA410694029TXNRD2c.256T>A (p.Cys86Ser)
c.166T>A (p.Cys56Ser)
c.253T>A (p.Cys85Ser)
c.187T>A (p.Cys63Ser)
c.199T>A (p.Cys67Ser)
c.160T>A (p.Cys54Ser)
n.261T>A
c.-33T>A (n.-33T>A)
n.388T>A
n.214T>A
22g.19918979G>ACA10104276TXNRD2c.255C>T (p.Thr85=)
c.165C>T (p.Thr55=)
c.252C>T (p.Thr84=)
c.186C>T (p.Thr62=)
c.198C>T (p.Thr66=)
c.159C>T (p.Thr53=)
n.260C>T
c.-34C>T (n.-34C>T)
n.387C>T
n.213C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.19918979G>CCA513369105TXNRD2c.255C>G (p.Thr85=)
c.165C>G (p.Thr55=)
c.252C>G (p.Thr84=)
c.186C>G (p.Thr62=)
c.198C>G (p.Thr66=)
c.159C>G (p.Thr53=)
n.260C>G
c.-34C>G (n.-34C>G)
n.387C>G
n.213C>G
 dbSNP
22g.19918979G=CA2396103787TXNRD2c.255C= (p.Thr85=)
c.165C= (p.Thr55=)
c.252C= (p.Thr84=)
c.186C= (p.Thr62=)
c.198C= (p.Thr66=)
c.159C= (p.Thr53=)
n.260C=
c.-34C= (n.-34C=)
n.387C=
n.213C=
22g.19918979G>TCA513369104TXNRD2c.255C>A (p.Thr85=)
c.165C>A (p.Thr55=)
c.252C>A (p.Thr84=)
c.186C>A (p.Thr62=)
c.198C>A (p.Thr66=)
c.159C>A (p.Thr53=)
n.260C>A
c.-34C>A (n.-34C>A)
n.387C>A
n.213C>A
 gnomAD v4
22g.19918980G>ACA322105583TXNRD2c.254C>T (p.Thr85Ile)
c.164C>T (p.Thr55Ile)
c.251C>T (p.Thr84Ile)
c.185C>T (p.Thr62Ile)
c.197C>T (p.Thr66Ile)
c.158C>T (p.Thr53Ile)
n.259C>T
c.-35C>T (n.-35C>T)
n.386C>T
n.212C>T
 dbSNP gnomAD v4
22g.19918980G>CCA410694032TXNRD2c.254C>G (p.Thr85Ser)
c.164C>G (p.Thr55Ser)
c.251C>G (p.Thr84Ser)
c.185C>G (p.Thr62Ser)
c.197C>G (p.Thr66Ser)
c.158C>G (p.Thr53Ser)
n.259C>G
c.-35C>G (n.-35C>G)
n.386C>G
n.212C>G
22g.19918980G=CA2396103788TXNRD2c.254C= (p.Thr85=)
c.164C= (p.Thr55=)
c.251C= (p.Thr84=)
c.185C= (p.Thr62=)
c.197C= (p.Thr66=)
c.158C= (p.Thr53=)
n.259C=
c.-35C= (n.-35C=)
n.386C=
n.212C=
22g.19918980G>TCA410694033TXNRD2c.254C>A (p.Thr85Asn)
c.164C>A (p.Thr55Asn)
c.251C>A (p.Thr84Asn)
c.185C>A (p.Thr62Asn)
c.197C>A (p.Thr66Asn)
c.158C>A (p.Thr53Asn)
n.259C>A
c.-35C>A (n.-35C>A)
n.386C>A
n.212C>A
22g.19918981T>ACA410694035TXNRD2c.253A>T (p.Thr85Ser)
c.163A>T (p.Thr55Ser)
c.250A>T (p.Thr84Ser)
c.184A>T (p.Thr62Ser)
c.196A>T (p.Thr66Ser)
c.157A>T (p.Thr53Ser)
n.258A>T
c.-36A>T (n.-36A>T)
n.385A>T
n.211A>T
22g.19918981T>CCA410694038TXNRD2c.253A>G (p.Thr85Ala)
c.163A>G (p.Thr55Ala)
c.250A>G (p.Thr84Ala)
c.184A>G (p.Thr62Ala)
c.196A>G (p.Thr66Ala)
c.157A>G (p.Thr53Ala)
n.258A>G
c.-36A>G (n.-36A>G)
n.385A>G
n.211A>G
 gnomAD v4 COSMIC COSMIC
22g.19918981T>GCA410694036TXNRD2c.253A>C (p.Thr85Pro)
c.163A>C (p.Thr55Pro)
c.250A>C (p.Thr84Pro)
c.184A>C (p.Thr62Pro)
c.196A>C (p.Thr66Pro)
c.157A>C (p.Thr53Pro)
n.258A>C
c.-36A>C (n.-36A>C)
n.385A>C
n.211A>C
22g.19918981_19918982insACA2549867287TXNRD2c.252_253insT (p.Thr85TyrfsTer?)
c.162_163insT (p.Thr55TyrfsTer?)
c.249_250insT (p.Thr84TyrfsTer?)
c.183_184insT (p.Thr62TyrfsTer?)
c.195_196insT (p.Thr66TyrfsTer?)
c.156_157insT (p.Thr53TyrfsTer?)
n.257_258insT
c.-37_-36insT (n.-37_-36insT)
n.384_385insT
n.210_211insT
22g.19918982G>ACA513369108TXNRD2c.252C>T (p.Gly84=)
c.162C>T (p.Gly54=)
c.249C>T (p.Gly83=)
c.183C>T (p.Gly61=)
c.195C>T (p.Gly65=)
c.156C>T (p.Gly52=)
n.257C>T
c.-37C>T (n.-37C>T)
n.384C>T
n.210C>T
 dbSNP gnomAD v2 gnomAD v4
22g.19918982G>CCA513369107TXNRD2c.252C>G (p.Gly84=)
c.162C>G (p.Gly54=)
c.249C>G (p.Gly83=)
c.183C>G (p.Gly61=)
c.195C>G (p.Gly65=)
c.156C>G (p.Gly52=)
n.257C>G
c.-37C>G (n.-37C>G)
n.384C>G
n.210C>G
22g.19918982G=CA2396103789TXNRD2c.252C= (p.Gly84=)
c.162C= (p.Gly54=)
c.249C= (p.Gly83=)
c.183C= (p.Gly61=)
c.195C= (p.Gly65=)
c.156C= (p.Gly52=)
n.257C=
c.-37C= (n.-37C=)
n.384C=
n.210C=
22g.19918982G>TCA513369106TXNRD2c.252C>A (p.Gly84=)
c.162C>A (p.Gly54=)
c.249C>A (p.Gly83=)
c.183C>A (p.Gly61=)
c.195C>A (p.Gly65=)
c.156C>A (p.Gly52=)
n.257C>A
c.-37C>A (n.-37C>A)
n.384C>A
n.210C>A
22g.19918983C>ACA410694039TXNRD2c.251G>T (p.Gly84Val)
c.161G>T (p.Gly54Val)
c.248G>T (p.Gly83Val)
c.182G>T (p.Gly61Val)
c.194G>T (p.Gly65Val)
c.155G>T (p.Gly52Val)
n.256G>T
c.-38G>T (n.-38G>T)
n.383G>T
n.209G>T
22g.19918983C>GCA410694041TXNRD2c.251G>C (p.Gly84Ala)
c.161G>C (p.Gly54Ala)
c.248G>C (p.Gly83Ala)
c.182G>C (p.Gly61Ala)
c.194G>C (p.Gly65Ala)
c.155G>C (p.Gly52Ala)
n.256G>C
c.-38G>C (n.-38G>C)
n.383G>C
n.209G>C
22g.19918983C>TCA410694043TXNRD2c.251G>A (p.Gly84Asp)
c.161G>A (p.Gly54Asp)
c.248G>A (p.Gly83Asp)
c.182G>A (p.Gly61Asp)
c.194G>A (p.Gly65Asp)
c.155G>A (p.Gly52Asp)
n.256G>A
c.-38G>A (n.-38G>A)
n.383G>A
n.209G>A
 gnomAD v4
22g.19918984C>ACA410694045TXNRD2c.250G>T (p.Gly84Cys)
c.160G>T (p.Gly54Cys)
c.247G>T (p.Gly83Cys)
c.181G>T (p.Gly61Cys)
c.193G>T (p.Gly65Cys)
c.154G>T (p.Gly52Cys)
n.255G>T
c.-39G>T (n.-39G>T)
n.382G>T
n.208G>T
22g.19918984C=CA2396103790TXNRD2c.250G= (p.Gly84=)
c.160G= (p.Gly54=)
c.247G= (p.Gly83=)
c.181G= (p.Gly61=)
c.193G= (p.Gly65=)
c.154G= (p.Gly52=)
n.255G=
c.-39G= (n.-39G=)
n.382G=
n.208G=
22g.19918984C>GCA410694046TXNRD2c.250G>C (p.Gly84Arg)
c.160G>C (p.Gly54Arg)
c.247G>C (p.Gly83Arg)
c.181G>C (p.Gly61Arg)
c.193G>C (p.Gly65Arg)
c.154G>C (p.Gly52Arg)
n.255G>C
c.-39G>C (n.-39G>C)
n.382G>C
n.208G>C
22g.19918984C>TCA10104277TXNRD2c.250G>A (p.Gly84Ser)
c.160G>A (p.Gly54Ser)
c.247G>A (p.Gly83Ser)
c.181G>A (p.Gly61Ser)
c.193G>A (p.Gly65Ser)
c.154G>A (p.Gly52Ser)
n.255G>A
c.-39G>A (n.-39G>A)
n.382G>A
n.208G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.19918985G>ACA10104278TXNRD2c.249C>T (p.Gly83=)
c.159C>T (p.Gly53=)
c.246C>T (p.Gly82=)
c.180C>T (p.Gly60=)
c.192C>T (p.Gly64=)
c.153C>T (p.Gly51=)
n.254C>T
c.-40C>T (n.-40C>T)
n.381C>T
n.207C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22g.19918985G>CCA513369110TXNRD2c.249C>G (p.Gly83=)
c.159C>G (p.Gly53=)
c.246C>G (p.Gly82=)
c.180C>G (p.Gly60=)
c.192C>G (p.Gly64=)
c.153C>G (p.Gly51=)
n.254C>G
c.-40C>G (n.-40C>G)
n.381C>G
n.207C>G
22g.19918985G=CA2396103791TXNRD2c.249C= (p.Gly83=)
c.159C= (p.Gly53=)
c.246C= (p.Gly82=)
c.180C= (p.Gly60=)
c.192C= (p.Gly64=)
c.153C= (p.Gly51=)
n.254C=
c.-40C= (n.-40C=)
n.381C=
n.207C=
22g.19918985G>TCA513369109TXNRD2c.249C>A (p.Gly83=)
c.159C>A (p.Gly53=)
c.246C>A (p.Gly82=)
c.180C>A (p.Gly60=)
c.192C>A (p.Gly64=)
c.153C>A (p.Gly51=)
n.254C>A
c.-40C>A (n.-40C>A)
n.381C>A
n.207C>A
 dbSNP gnomAD v2 gnomAD v4
22g.19918986C>ACA410694050TXNRD2c.248G>T (p.Gly83Val)
c.158G>T (p.Gly53Val)
c.245G>T (p.Gly82Val)
c.179G>T (p.Gly60Val)
c.191G>T (p.Gly64Val)
c.152G>T (p.Gly51Val)
n.253G>T
c.-41G>T (n.-41G>T)
n.380G>T
n.206G>T
 gnomAD v4
22g.19918986C>GCA410694051TXNRD2c.248G>C (p.Gly83Ala)
c.158G>C (p.Gly53Ala)
c.245G>C (p.Gly82Ala)
c.179G>C (p.Gly60Ala)
c.191G>C (p.Gly64Ala)
c.152G>C (p.Gly51Ala)
n.253G>C
c.-41G>C (n.-41G>C)
n.380G>C
n.206G>C
22g.19918986C>TCA410694053TXNRD2c.248G>A (p.Gly83Asp)
c.158G>A (p.Gly53Asp)
c.245G>A (p.Gly82Asp)
c.179G>A (p.Gly60Asp)
c.191G>A (p.Gly64Asp)
c.152G>A (p.Gly51Asp)
n.253G>A
c.-41G>A (n.-41G>A)
n.380G>A
n.206G>A
22g.19918987C>ACA410694055TXNRD2c.247G>T (p.Gly83Cys)
c.157G>T (p.Gly53Cys)
c.244G>T (p.Gly82Cys)
c.178G>T (p.Gly60Cys)
c.190G>T (p.Gly64Cys)
c.151G>T (p.Gly51Cys)
n.252G>T
c.-42G>T (n.-42G>T)
n.379G>T
n.205G>T
22g.19918987C=CA2396103792TXNRD2c.247G= (p.Gly83=)
c.157G= (p.Gly53=)
c.244G= (p.Gly82=)
c.178G= (p.Gly60=)
c.190G= (p.Gly64=)
c.151G= (p.Gly51=)
n.252G=
c.-42G= (n.-42G=)
n.379G=
n.205G=
22g.19918987C>GCA410694057TXNRD2c.247G>C (p.Gly83Arg)
c.157G>C (p.Gly53Arg)
c.244G>C (p.Gly82Arg)
c.178G>C (p.Gly60Arg)
c.190G>C (p.Gly64Arg)
c.151G>C (p.Gly51Arg)
n.252G>C
c.-42G>C (n.-42G>C)
n.379G>C
n.205G>C
22g.19918987C>TCA10104279TXNRD2c.247G>A (p.Gly83Ser)
c.157G>A (p.Gly53Ser)
c.244G>A (p.Gly82Ser)
c.178G>A (p.Gly60Ser)
c.190G>A (p.Gly64Ser)
c.151G>A (p.Gly51Ser)
n.252G>A
c.-42G>A (n.-42G>A)
n.379G>A
n.205G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.19918987_19918988insCAGGTACTGCTCTTCCA2567780688TXNRD2c.247_248insAAGAGCAGTACCTGG (p.Leu82_Gly83insGluGluGlnTyrLeu)
c.157_158insAAGAGCAGTACCTGG (p.Leu52_Gly53insGluGluGlnTyrLeu)
c.244_245insAAGAGCAGTACCTGG (p.Leu81_Gly82insGluGluGlnTyrLeu)
c.178_179insAAGAGCAGTACCTGG (p.Leu59_Gly60insGluGluGlnTyrLeu)
c.190_191insAAGAGCAGTACCTGG (p.Leu63_Gly64insGluGluGlnTyrLeu)
c.151_152insAAGAGCAGTACCTGG (p.Leu50_Gly51insGluGluGlnTyrLeu)
n.252_253insAAGAGCAGTACCTGG
c.-42_-41insAAGAGCAGTACCTGG (n.-42_-41insAAGAGCAGTACCTGG)
n.379_380insAAGAGCAGTACCTGG
n.205_206insAAGAGCAGTACCTGG
22g.19918987_19918988insCAGGTACTGCTCCTCAACCA2562820767TXNRD2c.247_248insTTGAGGAGCAGTACCTGG (p.Leu82_Gly83insValGluGluGlnTyrLeu)
c.157_158insTTGAGGAGCAGTACCTGG (p.Leu52_Gly53insValGluGluGlnTyrLeu)
c.244_245insTTGAGGAGCAGTACCTGG (p.Leu81_Gly82insValGluGluGlnTyrLeu)
c.178_179insTTGAGGAGCAGTACCTGG (p.Leu59_Gly60insValGluGluGlnTyrLeu)
c.190_191insTTGAGGAGCAGTACCTGG (p.Leu63_Gly64insValGluGluGlnTyrLeu)
c.151_152insTTGAGGAGCAGTACCTGG (p.Leu50_Gly51insValGluGluGlnTyrLeu)
n.252_253insTTGAGGAGCAGTACCTGG
c.-42_-41insTTGAGGAGCAGTACCTGG (n.-42_-41insTTGAGGAGCAGTACCTGG)
n.379_380insTTGAGGAGCAGTACCTGG
n.205_206insTTGAGGAGCAGTACCTGG
22g.19918987_19918988insCAGGTACTGCTCCTCGACCA2655329446TXNRD2c.247_248insTCGAGGAGCAGTACCTGG (p.Leu82_Gly83insValGluGluGlnTyrLeu)
c.157_158insTCGAGGAGCAGTACCTGG (p.Leu52_Gly53insValGluGluGlnTyrLeu)
c.244_245insTCGAGGAGCAGTACCTGG (p.Leu81_Gly82insValGluGluGlnTyrLeu)
c.178_179insTCGAGGAGCAGTACCTGG (p.Leu59_Gly60insValGluGluGlnTyrLeu)
c.190_191insTCGAGGAGCAGTACCTGG (p.Leu63_Gly64insValGluGluGlnTyrLeu)
c.151_152insTCGAGGAGCAGTACCTGG (p.Leu50_Gly51insValGluGluGlnTyrLeu)
n.252_253insTCGAGGAGCAGTACCTGG
c.-42_-41insTCGAGGAGCAGTACCTGG (n.-42_-41insTCGAGGAGCAGTACCTGG)
n.379_380insTCGAGGAGCAGTACCTGG
n.205_206insTCGAGGAGCAGTACCTGG
 gnomAD v4
22g.19918987_19918988insCAGGTACTGCTCTTCGACCA2551536814TXNRD2c.247_248insTCGAAGAGCAGTACCTGG (p.Leu82_Gly83insValGluGluGlnTyrLeu)
c.157_158insTCGAAGAGCAGTACCTGG (p.Leu52_Gly53insValGluGluGlnTyrLeu)
c.244_245insTCGAAGAGCAGTACCTGG (p.Leu81_Gly82insValGluGluGlnTyrLeu)
c.178_179insTCGAAGAGCAGTACCTGG (p.Leu59_Gly60insValGluGluGlnTyrLeu)
c.190_191insTCGAAGAGCAGTACCTGG (p.Leu63_Gly64insValGluGluGlnTyrLeu)
c.151_152insTCGAAGAGCAGTACCTGG (p.Leu50_Gly51insValGluGluGlnTyrLeu)
n.252_253insTCGAAGAGCAGTACCTGG
c.-42_-41insTCGAAGAGCAGTACCTGG (n.-42_-41insTCGAAGAGCAGTACCTGG)
n.379_380insTCGAAGAGCAGTACCTGG
n.205_206insTCGAAGAGCAGTACCTGG
22g.19918987_19918988insCACA1024155175TXNRD2c.246_247insTG (p.Gly83TrpfsTer15)
c.156_157insTG (p.Gly53TrpfsTer15)
c.243_244insTG (p.Gly82TrpfsTer15)
c.177_178insTG (p.Gly60TrpfsTer15)
c.189_190insTG (p.Gly64TrpfsTer15)
c.150_151insTG (p.Gly51TrpfsTer15)
n.251_252insTG
c.-43_-42insTG (n.-43_-42insTG)
n.378_379insTG
n.204_205insTG
22g.19918988G>ACA10104280TXNRD2c.246C>T (p.Leu82=)
c.156C>T (p.Leu52=)
c.243C>T (p.Leu81=)
c.177C>T (p.Leu59=)
c.189C>T (p.Leu63=)
c.150C>T (p.Leu50=)
n.251C>T
c.-43C>T (n.-43C>T)
n.378C>T
n.204C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19918988G>CCA513369112TXNRD2c.246C>G (p.Leu82=)
c.156C>G (p.Leu52=)
c.243C>G (p.Leu81=)
c.177C>G (p.Leu59=)
c.189C>G (p.Leu63=)
c.150C>G (p.Leu50=)
n.251C>G
c.-43C>G (n.-43C>G)
n.378C>G
n.204C>G
 dbSNP gnomAD v3 gnomAD v4
22g.19918988G=CA2396103793TXNRD2c.246C= (p.Leu82=)
c.156C= (p.Leu52=)
c.243C= (p.Leu81=)
c.177C= (p.Leu59=)
c.189C= (p.Leu63=)
c.150C= (p.Leu50=)
n.251C=
c.-43C= (n.-43C=)
n.378C=
n.204C=
22g.19918988G>TCA513369111TXNRD2c.246C>A (p.Leu82=)
c.156C>A (p.Leu52=)
c.243C>A (p.Leu81=)
c.177C>A (p.Leu59=)
c.189C>A (p.Leu63=)
c.150C>A (p.Leu50=)
n.251C>A
c.-43C>A (n.-43C>A)
n.378C>A
n.204C>A
 gnomAD v4
22g.19918988_19918989insCGCGTTCTTGCCGGCCGGGTTCTTCCATTTCTCGATGCAGGCAACCTTCCA2818401269TXNRD2c.245_246insGAAGGTTGCCTGCATCGAGAAATGGAAGAACCCGGCCGGCAAGAACGCG (p.Gly83LysfsTer?)
c.155_156insGAAGGTTGCCTGCATCGAGAAATGGAAGAACCCGGCCGGCAAGAACGCG (p.Gly53LysfsTer?)
c.242_243insGAAGGTTGCCTGCATCGAGAAATGGAAGAACCCGGCCGGCAAGAACGCG (p.Gly82LysfsTer?)
c.176_177insGAAGGTTGCCTGCATCGAGAAATGGAAGAACCCGGCCGGCAAGAACGCG (p.Gly60LysfsTer?)
c.188_189insGAAGGTTGCCTGCATCGAGAAATGGAAGAACCCGGCCGGCAAGAACGCG (p.Gly64LysfsTer?)
c.149_150insGAAGGTTGCCTGCATCGAGAAATGGAAGAACCCGGCCGGCAAGAACGCG (p.Gly51LysfsTer?)
n.250_251insGAAGGTTGCCTGCATCGAGAAATGGAAGAACCCGGCCGGCAAGAACGCG
c.-44_-43insGAAGGTTGCCTGCATCGAGAAATGGAAGAACCCGGCCGGCAAGAACGCG (n.-44_-43insGAAGGTTGCCTGCATCGAGAAATGGAAGAACCCGGCCGGCAAGAACGCG)
n.377_378insGAAGGTTGCCTGCATCGAGAAATGGAAGAACCCGGCCGGCAAGAACGCG
n.203_204insGAAGGTTGCCTGCATCGAGAAATGGAAGAACCCGGCCGGCAAGAACGCG
22g.19918989A>CCA410694059TXNRD2c.245T>G (p.Leu82Arg)
c.155T>G (p.Leu52Arg)
c.242T>G (p.Leu81Arg)
c.176T>G (p.Leu59Arg)
c.188T>G (p.Leu63Arg)
c.149T>G (p.Leu50Arg)
n.250T>G
c.-44T>G (n.-44T>G)
n.377T>G
n.203T>G
22g.19918989A>GCA410694061TXNRD2c.245T>C (p.Leu82Pro)
c.155T>C (p.Leu52Pro)
c.242T>C (p.Leu81Pro)
c.176T>C (p.Leu59Pro)
c.188T>C (p.Leu63Pro)
c.149T>C (p.Leu50Pro)
n.250T>C
c.-44T>C (n.-44T>C)
n.377T>C
n.203T>C
22g.19918989A>TCA410694062TXNRD2c.245T>A (p.Leu82His)
c.155T>A (p.Leu52His)
c.242T>A (p.Leu81His)
c.176T>A (p.Leu59His)
c.188T>A (p.Leu63His)
c.149T>A (p.Leu50His)
n.250T>A
c.-44T>A (n.-44T>A)
n.377T>A
n.203T>A
22g.19918989_19918990delinsAGCA2396103794TXNRD2c.244_245delinsCT (p.Leu82=)
c.154_155delinsCT (p.Leu52=)
c.241_242delinsCT (p.Leu81=)
c.175_176delinsCT (p.Leu59=)
c.187_188delinsCT (p.Leu63=)
c.148_149delinsCT (p.Leu50=)
n.249_250delinsCT
c.-45_-44delinsCT (n.-45_-44delinsCT)
n.376_377delinsCT
n.202_203delinsCT
22g.19918989_19918990insTAGCGGCTTTCAGCAACCGCAACGCGGGCTCCGAAACCTGCGCTAAAGCGCGCGGCGCGCACACCGCCGGAACCGGCACCGATGACGAAAAGGTCGAAGTCGTAGGTCATTAATTTCTCCTTCA1024155185TXNRD2c.244_245insAAGGAGAAATTAATGACCTACGACTTCGACCTTTTCGTCATCGGTGCCGGTTCCGGCGGTGTGCGCGCCGCGCGCTTTAGCGCAGGTTTCGGAGCCCGCGTTGCGGTTGCTGAAAGCCGCTA (p.Leu82GlnfsTer27)
c.154_155insAAGGAGAAATTAATGACCTACGACTTCGACCTTTTCGTCATCGGTGCCGGTTCCGGCGGTGTGCGCGCCGCGCGCTTTAGCGCAGGTTTCGGAGCCCGCGTTGCGGTTGCTGAAAGCCGCTA (p.Leu52GlnfsTer27)
c.241_242insAAGGAGAAATTAATGACCTACGACTTCGACCTTTTCGTCATCGGTGCCGGTTCCGGCGGTGTGCGCGCCGCGCGCTTTAGCGCAGGTTTCGGAGCCCGCGTTGCGGTTGCTGAAAGCCGCTA (p.Leu81GlnfsTer27)
c.175_176insAAGGAGAAATTAATGACCTACGACTTCGACCTTTTCGTCATCGGTGCCGGTTCCGGCGGTGTGCGCGCCGCGCGCTTTAGCGCAGGTTTCGGAGCCCGCGTTGCGGTTGCTGAAAGCCGCTA (p.Leu59GlnfsTer27)
c.187_188insAAGGAGAAATTAATGACCTACGACTTCGACCTTTTCGTCATCGGTGCCGGTTCCGGCGGTGTGCGCGCCGCGCGCTTTAGCGCAGGTTTCGGAGCCCGCGTTGCGGTTGCTGAAAGCCGCTA (p.Leu63GlnfsTer27)
c.148_149insAAGGAGAAATTAATGACCTACGACTTCGACCTTTTCGTCATCGGTGCCGGTTCCGGCGGTGTGCGCGCCGCGCGCTTTAGCGCAGGTTTCGGAGCCCGCGTTGCGGTTGCTGAAAGCCGCTA (p.Leu50GlnfsTer27)
n.249_250insAAGGAGAAATTAATGACCTACGACTTCGACCTTTTCGTCATCGGTGCCGGTTCCGGCGGTGTGCGCGCCGCGCGCTTTAGCGCAGGTTTCGGAGCCCGCGTTGCGGTTGCTGAAAGCCGCTA
c.-45_-44insAAGGAGAAATTAATGACCTACGACTTCGACCTTTTCGTCATCGGTGCCGGTTCCGGCGGTGTGCGCGCCGCGCGCTTTAGCGCAGGTTTCGGAGCCCGCGTTGCGGTTGCTGAAAGCCGCTA (n.-45_-44insAAGGAGAAATTAATGACCTACGACTTCGACCTTTTCGTCATCGGTGCCGGTTCCGGCGGTGTGCGCGCCGCGCGCTTTAGCGCAGGTTTCGGAGCCCGCGTTGCGGTTGCTGAAAGCCGCTA)
n.376_377insAAGGAGAAATTAATGACCTACGACTTCGACCTTTTCGTCATCGGTGCCGGTTCCGGCGGTGTGCGCGCCGCGCGCTTTAGCGCAGGTTTCGGAGCCCGCGTTGCGGTTGCTGAAAGCCGCTA
n.202_203insAAGGAGAAATTAATGACCTACGACTTCGACCTTTTCGTCATCGGTGCCGGTTCCGGCGGTGTGCGCGCCGCGCGCTTTAGCGCAGGTTTCGGAGCCCGCGTTGCGGTTGCTGAAAGCCGCTA
22g.19918990G>ACA410694064TXNRD2c.244C>T (p.Leu82Phe)
c.154C>T (p.Leu52Phe)
c.241C>T (p.Leu81Phe)
c.175C>T (p.Leu59Phe)
c.187C>T (p.Leu63Phe)
c.148C>T (p.Leu50Phe)
n.249C>T
c.-45C>T (n.-45C>T)
n.376C>T
n.202C>T
 dbSNP gnomAD v4
22g.19918990G>CCA410694066TXNRD2c.244C>G (p.Leu82Val)
c.154C>G (p.Leu52Val)
c.241C>G (p.Leu81Val)
c.175C>G (p.Leu59Val)
c.187C>G (p.Leu63Val)
c.148C>G (p.Leu50Val)
n.249C>G
c.-45C>G (n.-45C>G)
n.376C>G
n.202C>G
22g.19918990G=CA2396103796TXNRD2c.244C= (p.Leu82=)
c.154C= (p.Leu52=)
c.241C= (p.Leu81=)
c.175C= (p.Leu59=)
c.187C= (p.Leu63=)
c.148C= (p.Leu50=)
n.249C=
c.-45C= (n.-45C=)
n.376C=
n.202C=
22g.19918990G>TCA410694068TXNRD2c.244C>A (p.Leu82Ile)
c.154C>A (p.Leu52Ile)
c.241C>A (p.Leu81Ile)
c.175C>A (p.Leu59Ile)
c.187C>A (p.Leu63Ile)
c.148C>A (p.Leu50Ile)
n.249C>A
c.-45C>A (n.-45C>A)
n.376C>A
n.202C>A
 dbSNP gnomAD v4
22g.19918991delCA2396103795TXNRD2c.244del (p.Leu82SerfsTer15)
c.154del (p.Leu52SerfsTer15)
c.241del (p.Leu81SerfsTer15)
c.175del (p.Leu59SerfsTer15)
c.187del (p.Leu63SerfsTer15)
c.148del (p.Leu50SerfsTer15)
n.249del
c.-45del (n.-45del)
n.376del
n.202del
 dbSNP
22g.19918990_19918991insATAGCGGCTTTCGGCCACCGCCACGCGGGCGCCGAAACCGGCCGCGAAGCGGGCCGCGCGCACGCCGCCGGACA1024155189TXNRD2c.243_244insTCCGGCGGCGTGCGCGCGGCCCGCTTCGCGGCCGGTTTCGGCGCCCGCGTGGCGGTGGCCGAAAGCCGCTAT (p.Gly81_Leu82insSerGlyGlyValArgAlaAlaArgPheAlaAlaGlyPheGlyAlaArgValAlaValAlaGluSerArgTyr)
c.153_154insTCCGGCGGCGTGCGCGCGGCCCGCTTCGCGGCCGGTTTCGGCGCCCGCGTGGCGGTGGCCGAAAGCCGCTAT (p.Gly51_Leu52insSerGlyGlyValArgAlaAlaArgPheAlaAlaGlyPheGlyAlaArgValAlaValAlaGluSerArgTyr)
c.240_241insTCCGGCGGCGTGCGCGCGGCCCGCTTCGCGGCCGGTTTCGGCGCCCGCGTGGCGGTGGCCGAAAGCCGCTAT (p.Gly80_Leu81insSerGlyGlyValArgAlaAlaArgPheAlaAlaGlyPheGlyAlaArgValAlaValAlaGluSerArgTyr)
c.174_175insTCCGGCGGCGTGCGCGCGGCCCGCTTCGCGGCCGGTTTCGGCGCCCGCGTGGCGGTGGCCGAAAGCCGCTAT (p.Gly58_Leu59insSerGlyGlyValArgAlaAlaArgPheAlaAlaGlyPheGlyAlaArgValAlaValAlaGluSerArgTyr)
c.186_187insTCCGGCGGCGTGCGCGCGGCCCGCTTCGCGGCCGGTTTCGGCGCCCGCGTGGCGGTGGCCGAAAGCCGCTAT (p.Gly62_Leu63insSerGlyGlyValArgAlaAlaArgPheAlaAlaGlyPheGlyAlaArgValAlaValAlaGluSerArgTyr)
c.147_148insTCCGGCGGCGTGCGCGCGGCCCGCTTCGCGGCCGGTTTCGGCGCCCGCGTGGCGGTGGCCGAAAGCCGCTAT (p.Gly49_Leu50insSerGlyGlyValArgAlaAlaArgPheAlaAlaGlyPheGlyAlaArgValAlaValAlaGluSerArgTyr)
n.248_249insTCCGGCGGCGTGCGCGCGGCCCGCTTCGCGGCCGGTTTCGGCGCCCGCGTGGCGGTGGCCGAAAGCCGCTAT
c.-46_-45insTCCGGCGGCGTGCGCGCGGCCCGCTTCGCGGCCGGTTTCGGCGCCCGCGTGGCGGTGGCCGAAAGCCGCTAT (n.-46_-45insTCCGGCGGCGTGCGCGCGGCCCGCTTCGCGGCCGGTTTCGGCGCCCGCGTGGCGGTGGCCGAAAGCCGCTAT)
n.375_376insTCCGGCGGCGTGCGCGCGGCCCGCTTCGCGGCCGGTTTCGGCGCCCGCGTGGCGGTGGCCGAAAGCCGCTAT
n.201_202insTCCGGCGGCGTGCGCGCGGCCCGCTTCGCGGCCGGTTTCGGCGCCCGCGTGGCGGTGGCCGAAAGCCGCTAT
 gnomAD v3 gnomAD v4
22g.19918991G>ACA513369115TXNRD2c.243C>T (p.Gly81=)
c.153C>T (p.Gly51=)
c.240C>T (p.Gly80=)
c.174C>T (p.Gly58=)
c.186C>T (p.Gly62=)
c.147C>T (p.Gly49=)
n.248C>T
c.-46C>T (n.-46C>T)
n.375C>T
n.201C>T
22g.19918991G>CCA513369114TXNRD2c.243C>G (p.Gly81=)
c.153C>G (p.Gly51=)
c.240C>G (p.Gly80=)
c.174C>G (p.Gly58=)
c.186C>G (p.Gly62=)
c.147C>G (p.Gly49=)
n.248C>G
c.-46C>G (n.-46C>G)
n.375C>G
n.201C>G
22g.19918991G>TCA513369113TXNRD2c.243C>A (p.Gly81=)
c.153C>A (p.Gly51=)
c.240C>A (p.Gly80=)
c.174C>A (p.Gly58=)
c.186C>A (p.Gly62=)
c.147C>A (p.Gly49=)
n.248C>A
c.-46C>A (n.-46C>A)
n.375C>A
n.201C>A
 gnomAD v4
22g.19918991_19918992insTACTGCA2818401270TXNRD2c.243_244insAGTAC (p.Leu82SerfsTer17)
c.153_154insAGTAC (p.Leu52SerfsTer17)
c.240_241insAGTAC (p.Leu81SerfsTer17)
c.174_175insAGTAC (p.Leu59SerfsTer17)
c.186_187insAGTAC (p.Leu63SerfsTer17)
c.147_148insAGTAC (p.Leu50SerfsTer17)
n.248_249insAGTAC
c.-46_-45insAGTAC (n.-46_-45insAGTAC)
n.375_376insAGTAC
n.201_202insAGTAC
22g.19918991_19918992insGCGACCTTCTTGCA2508523454TXNRD2c.243_244insAAGAAGGTCGCC (p.Gly81_Leu82insLysLysValAla)
c.153_154insAAGAAGGTCGCC (p.Gly51_Leu52insLysLysValAla)
c.240_241insAAGAAGGTCGCC (p.Gly80_Leu81insLysLysValAla)
c.174_175insAAGAAGGTCGCC (p.Gly58_Leu59insLysLysValAla)
c.186_187insAAGAAGGTCGCC (p.Gly62_Leu63insLysLysValAla)
c.147_148insAAGAAGGTCGCC (p.Gly49_Leu50insLysLysValAla)
n.248_249insAAGAAGGTCGCC
c.-46_-45insAAGAAGGTCGCC (n.-46_-45insAAGAAGGTCGCC)
n.375_376insAAGAAGGTCGCC
n.201_202insAAGAAGGTCGCC
22g.19918991_19918992insGCGACGCGGGCGCCGGTCTGCGCCGCCATGCGCGCGGCGCGAACGCCGCCGCTGCCGCA1024155202TXNRD2c.243_244insGGCAGCGGCGGCGTTCGCGCCGCGCGCATGGCGGCGCAGACCGGCGCCCGCGTCGCC (p.Gly81_Leu82insGlySerGlyGlyValArgAlaAlaArgMetAlaAlaGlnThrGlyAlaArgValAla)
c.153_154insGGCAGCGGCGGCGTTCGCGCCGCGCGCATGGCGGCGCAGACCGGCGCCCGCGTCGCC (p.Gly51_Leu52insGlySerGlyGlyValArgAlaAlaArgMetAlaAlaGlnThrGlyAlaArgValAla)
c.240_241insGGCAGCGGCGGCGTTCGCGCCGCGCGCATGGCGGCGCAGACCGGCGCCCGCGTCGCC (p.Gly80_Leu81insGlySerGlyGlyValArgAlaAlaArgMetAlaAlaGlnThrGlyAlaArgValAla)
c.174_175insGGCAGCGGCGGCGTTCGCGCCGCGCGCATGGCGGCGCAGACCGGCGCCCGCGTCGCC (p.Gly58_Leu59insGlySerGlyGlyValArgAlaAlaArgMetAlaAlaGlnThrGlyAlaArgValAla)
c.186_187insGGCAGCGGCGGCGTTCGCGCCGCGCGCATGGCGGCGCAGACCGGCGCCCGCGTCGCC (p.Gly62_Leu63insGlySerGlyGlyValArgAlaAlaArgMetAlaAlaGlnThrGlyAlaArgValAla)
c.147_148insGGCAGCGGCGGCGTTCGCGCCGCGCGCATGGCGGCGCAGACCGGCGCCCGCGTCGCC (p.Gly49_Leu50insGlySerGlyGlyValArgAlaAlaArgMetAlaAlaGlnThrGlyAlaArgValAla)
n.248_249insGGCAGCGGCGGCGTTCGCGCCGCGCGCATGGCGGCGCAGACCGGCGCCCGCGTCGCC
c.-46_-45insGGCAGCGGCGGCGTTCGCGCCGCGCGCATGGCGGCGCAGACCGGCGCCCGCGTCGCC (n.-46_-45insGGCAGCGGCGGCGTTCGCGCCGCGCGCATGGCGGCGCAGACCGGCGCCCGCGTCGCC)
n.375_376insGGCAGCGGCGGCGTTCGCGCCGCGCGCATGGCGGCGCAGACCGGCGCCCGCGTCGCC
n.201_202insGGCAGCGGCGGCGTTCGCGCCGCGCGCATGGCGGCGCAGACCGGCGCCCGCGTCGCC
 gnomAD v3 gnomAD v4
22g.19918991_19918992insTACTGTTCA2533702161TXNRD2c.242_243insAACAGTA (p.Leu82ThrfsTer?)
c.152_153insAACAGTA (p.Leu52ThrfsTer?)
c.239_240insAACAGTA (p.Leu81ThrfsTer?)
c.173_174insAACAGTA (p.Leu59ThrfsTer?)
c.185_186insAACAGTA (p.Leu63ThrfsTer?)
c.146_147insAACAGTA (p.Leu50ThrfsTer?)
n.247_248insAACAGTA
c.-47_-46insAACAGTA (n.-47_-46insAACAGTA)
n.374_375insAACAGTA
n.200_201insAACAGTA
22g.19918992C>ACA410694069TXNRD2c.242G>T (p.Gly81Val)
c.152G>T (p.Gly51Val)
c.239G>T (p.Gly80Val)
c.173G>T (p.Gly58Val)
c.185G>T (p.Gly62Val)
c.146G>T (p.Gly49Val)
n.247G>T
c.-47G>T (n.-47G>T)
n.374G>T
n.200G>T
 ClinVar gnomAD v4
22g.19918992C=CA2396103797TXNRD2c.242G= (p.Gly81=)
c.152G= (p.Gly51=)
c.239G= (p.Gly80=)
c.173G= (p.Gly58=)
c.185G= (p.Gly62=)
c.146G= (p.Gly49=)
n.247G=
c.-47G= (n.-47G=)
n.374G=
n.200G=
22g.19918992C>GCA410694070TXNRD2c.242G>C (p.Gly81Ala)
c.152G>C (p.Gly51Ala)
c.239G>C (p.Gly80Ala)
c.173G>C (p.Gly58Ala)
c.185G>C (p.Gly62Ala)
c.146G>C (p.Gly49Ala)
n.247G>C
c.-47G>C (n.-47G>C)
n.374G>C
n.200G>C
22g.19918992C>TCA410694072TXNRD2c.242G>A (p.Gly81Asp)
c.152G>A (p.Gly51Asp)
c.239G>A (p.Gly80Asp)
c.173G>A (p.Gly58Asp)
c.185G>A (p.Gly62Asp)
c.146G>A (p.Gly49Asp)
n.247G>A
c.-47G>A (n.-47G>A)
n.374G>A
n.200G>A
 dbSNP gnomAD v2 gnomAD v4
22g.19918995delCA2655329464TXNRD2c.242del (p.Gly81AlafsTer16)
c.152del (p.Gly51AlafsTer16)
c.239del (p.Gly80AlafsTer16)
c.173del (p.Gly58AlafsTer16)
c.185del (p.Gly62AlafsTer16)
c.146del (p.Gly49AlafsTer16)
n.247del
c.-47del (n.-47del)
n.374del
n.200del
 gnomAD v4
22g.19918992_19918993insGGGCGCTTTCAATGACGGCGACTTTCGCGCCGTATTCGGCGGCGCGGCGGGCGGTCGCGATGCCGCCGGAACCGCCGCCAATGCAGATGAGGTCGAAGGTTTGCATGGAATCTCA2818401271TXNRD2c.241_242insAGATTCCATGCAAACCTTCGACCTCATCTGCATTGGCGGCGGTTCCGGCGGCATCGCGACCGCCCGCCGCGCCGCCGAATACGGCGCGAAAGTCGCCGTCATTGAAAGCGCCC (p.Gly81GlufsTer54)
c.151_152insAGATTCCATGCAAACCTTCGACCTCATCTGCATTGGCGGCGGTTCCGGCGGCATCGCGACCGCCCGCCGCGCCGCCGAATACGGCGCGAAAGTCGCCGTCATTGAAAGCGCCC (p.Gly51GlufsTer54)
c.238_239insAGATTCCATGCAAACCTTCGACCTCATCTGCATTGGCGGCGGTTCCGGCGGCATCGCGACCGCCCGCCGCGCCGCCGAATACGGCGCGAAAGTCGCCGTCATTGAAAGCGCCC (p.Gly80GlufsTer54)
c.172_173insAGATTCCATGCAAACCTTCGACCTCATCTGCATTGGCGGCGGTTCCGGCGGCATCGCGACCGCCCGCCGCGCCGCCGAATACGGCGCGAAAGTCGCCGTCATTGAAAGCGCCC (p.Gly58GlufsTer54)
c.184_185insAGATTCCATGCAAACCTTCGACCTCATCTGCATTGGCGGCGGTTCCGGCGGCATCGCGACCGCCCGCCGCGCCGCCGAATACGGCGCGAAAGTCGCCGTCATTGAAAGCGCCC (p.Gly62GlufsTer54)
c.145_146insAGATTCCATGCAAACCTTCGACCTCATCTGCATTGGCGGCGGTTCCGGCGGCATCGCGACCGCCCGCCGCGCCGCCGAATACGGCGCGAAAGTCGCCGTCATTGAAAGCGCCC (p.Gly49GlufsTer54)
n.246_247insAGATTCCATGCAAACCTTCGACCTCATCTGCATTGGCGGCGGTTCCGGCGGCATCGCGACCGCCCGCCGCGCCGCCGAATACGGCGCGAAAGTCGCCGTCATTGAAAGCGCCC
c.-48_-47insAGATTCCATGCAAACCTTCGACCTCATCTGCATTGGCGGCGGTTCCGGCGGCATCGCGACCGCCCGCCGCGCCGCCGAATACGGCGCGAAAGTCGCCGTCATTGAAAGCGCCC (n.-48_-47insAGATTCCATGCAAACCTTCGACCTCATCTGCATTGGCGGCGGTTCCGGCGGCATCGCGACCGCCCGCCGCGCCGCCGAATACGGCGCGAAAGTCGCCGTCATTGAAAGCGCCC)
n.373_374insAGATTCCATGCAAACCTTCGACCTCATCTGCATTGGCGGCGGTTCCGGCGGCATCGCGACCGCCCGCCGCGCCGCCGAATACGGCGCGAAAGTCGCCGTCATTGAAAGCGCCC
n.199_200insAGATTCCATGCAAACCTTCGACCTCATCTGCATTGGCGGCGGTTCCGGCGGCATCGCGACCGCCCGCCGCGCCGCCGAATACGGCGCGAAAGTCGCCGTCATTGAAAGCGCCC
22g.19918993C>ACA410694074TXNRD2c.241G>T (p.Gly81Cys)
c.151G>T (p.Gly51Cys)
c.238G>T (p.Gly80Cys)
c.172G>T (p.Gly58Cys)
c.184G>T (p.Gly62Cys)
c.145G>T (p.Gly49Cys)
n.246G>T
c.-48G>T (n.-48G>T)
n.373G>T
n.199G>T
22g.19918993C>GCA410694075TXNRD2c.241G>C (p.Gly81Arg)
c.151G>C (p.Gly51Arg)
c.238G>C (p.Gly80Arg)
c.172G>C (p.Gly58Arg)
c.184G>C (p.Gly62Arg)
c.145G>C (p.Gly49Arg)
n.246G>C
c.-48G>C (n.-48G>C)
n.373G>C
n.199G>C
 dbSNP
22g.19918993C>TCA410694077TXNRD2c.241G>A (p.Gly81Ser)
c.151G>A (p.Gly51Ser)
c.238G>A (p.Gly80Ser)
c.172G>A (p.Gly58Ser)
c.184G>A (p.Gly62Ser)
c.145G>A (p.Gly49Ser)
n.246G>A
c.-48G>A (n.-48G>A)
n.373G>A
n.199G>A
22g.19918994C>ACA410694082TXNRD2c.240G>T (p.Trp80Cys)
c.150G>T (p.Trp50Cys)
c.237G>T (p.Trp79Cys)
c.171G>T (p.Trp57Cys)
c.183G>T (p.Trp61Cys)
c.144G>T (p.Trp48Cys)
n.245G>T
c.-49G>T (n.-49G>T)
n.372G>T
n.198G>T
 gnomAD v4
22g.19918994C=CA2396103798TXNRD2c.240G= (p.Trp80=)
c.150G= (p.Trp50=)
c.237G= (p.Trp79=)
c.171G= (p.Trp57=)
c.183G= (p.Trp61=)
c.144G= (p.Trp48=)
n.245G=
c.-49G= (n.-49G=)
n.372G=
n.198G=
22g.19918994C>GCA410694079TXNRD2c.240G>C (p.Trp80Cys)
c.150G>C (p.Trp50Cys)
c.237G>C (p.Trp79Cys)
c.171G>C (p.Trp57Cys)
c.183G>C (p.Trp61Cys)
c.144G>C (p.Trp48Cys)
n.245G>C
c.-49G>C (n.-49G>C)
n.372G>C
n.198G>C
22g.19918994C>TCA410694081TXNRD2c.240G>A (p.Trp80Ter)
c.150G>A (p.Trp50Ter)
c.237G>A (p.Trp79Ter)
c.171G>A (p.Trp57Ter)
c.183G>A (p.Trp61Ter)
c.144G>A (p.Trp48Ter)
n.245G>A
c.-49G>A (n.-49G>A)
n.372G>A
n.198G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.19918994_19918995insGCA2506066547TXNRD2c.239_240insC (p.Trp80CysfsTer?)
c.149_150insC (p.Trp50CysfsTer?)
c.236_237insC (p.Trp79CysfsTer?)
c.170_171insC (p.Trp57CysfsTer?)
c.182_183insC (p.Trp61CysfsTer?)
c.143_144insC (p.Trp48CysfsTer?)
n.244_245insC
c.-50_-49insC (n.-50_-49insC)
n.371_372insC
n.197_198insC
 gnomAD v4
22g.19918994_19918995insAGCTGCGCAGCCCGGATGGCGGCGATGTAGCCGCA2818401272TXNRD2c.239_240insCGGCTACATCGCCGCCATCCGGGCTGCGCAGCT (p.Trp80delinsCysGlyTyrIleAlaAlaIleArgAlaAlaGlnLeu)
c.149_150insCGGCTACATCGCCGCCATCCGGGCTGCGCAGCT (p.Trp50delinsCysGlyTyrIleAlaAlaIleArgAlaAlaGlnLeu)
c.236_237insCGGCTACATCGCCGCCATCCGGGCTGCGCAGCT (p.Trp79delinsCysGlyTyrIleAlaAlaIleArgAlaAlaGlnLeu)
c.170_171insCGGCTACATCGCCGCCATCCGGGCTGCGCAGCT (p.Trp57delinsCysGlyTyrIleAlaAlaIleArgAlaAlaGlnLeu)
c.182_183insCGGCTACATCGCCGCCATCCGGGCTGCGCAGCT (p.Trp61delinsCysGlyTyrIleAlaAlaIleArgAlaAlaGlnLeu)
c.143_144insCGGCTACATCGCCGCCATCCGGGCTGCGCAGCT (p.Trp48delinsCysGlyTyrIleAlaAlaIleArgAlaAlaGlnLeu)
n.244_245insCGGCTACATCGCCGCCATCCGGGCTGCGCAGCT
c.-50_-49insCGGCTACATCGCCGCCATCCGGGCTGCGCAGCT (n.-50_-49insCGGCTACATCGCCGCCATCCGGGCTGCGCAGCT)
n.371_372insCGGCTACATCGCCGCCATCCGGGCTGCGCAGCT
n.197_198insCGGCTACATCGCCGCCATCCGGGCTGCGCAGCT
22g.19918994_19918995insGCGTGTCCGAGGCGCTCGGCAGCCAGGTAGCCGCCGGGGCCCGCA2548179355TXNRD2c.239_240insCGGGCCCCGGCGGCTACCTGGCTGCCGAGCGCCTCGGACACGC (p.Trp80CysfsTer?)
c.149_150insCGGGCCCCGGCGGCTACCTGGCTGCCGAGCGCCTCGGACACGC (p.Trp50CysfsTer?)
c.236_237insCGGGCCCCGGCGGCTACCTGGCTGCCGAGCGCCTCGGACACGC (p.Trp79CysfsTer?)
c.170_171insCGGGCCCCGGCGGCTACCTGGCTGCCGAGCGCCTCGGACACGC (p.Trp57CysfsTer?)
c.182_183insCGGGCCCCGGCGGCTACCTGGCTGCCGAGCGCCTCGGACACGC (p.Trp61CysfsTer?)
c.143_144insCGGGCCCCGGCGGCTACCTGGCTGCCGAGCGCCTCGGACACGC (p.Trp48CysfsTer?)
n.244_245insCGGGCCCCGGCGGCTACCTGGCTGCCGAGCGCCTCGGACACGC
c.-50_-49insCGGGCCCCGGCGGCTACCTGGCTGCCGAGCGCCTCGGACACGC (n.-50_-49insCGGGCCCCGGCGGCTACCTGGCTGCCGAGCGCCTCGGACACGC)
n.371_372insCGGGCCCCGGCGGCTACCTGGCTGCCGAGCGCCTCGGACACGC
n.197_198insCGGGCCCCGGCGGCTACCTGGCTGCCGAGCGCCTCGGACACGC
22g.19918995C>ACA410694084TXNRD2c.239G>T (p.Trp80Leu)
c.149G>T (p.Trp50Leu)
c.236G>T (p.Trp79Leu)
c.170G>T (p.Trp57Leu)
c.182G>T (p.Trp61Leu)
c.143G>T (p.Trp48Leu)
n.244G>T
c.-50G>T (n.-50G>T)
n.371G>T
n.197G>T
22g.19918995C>GCA410694085TXNRD2c.239G>C (p.Trp80Ser)
c.149G>C (p.Trp50Ser)
c.236G>C (p.Trp79Ser)
c.170G>C (p.Trp57Ser)
c.182G>C (p.Trp61Ser)
c.143G>C (p.Trp48Ser)
n.244G>C
c.-50G>C (n.-50G>C)
n.371G>C
n.197G>C
22g.19918995C>TCA410694087TXNRD2c.239G>A (p.Trp80Ter)
c.149G>A (p.Trp50Ter)
c.236G>A (p.Trp79Ter)
c.170G>A (p.Trp57Ter)
c.182G>A (p.Trp61Ter)
c.143G>A (p.Trp48Ter)
n.244G>A
c.-50G>A (n.-50G>A)
n.371G>A
n.197G>A
22g.19918996A=CA2396103799TXNRD2c.238T= (p.Trp80=)
c.148T= (p.Trp50=)
c.235T= (p.Trp79=)
c.169T= (p.Trp57=)
c.181T= (p.Trp61=)
c.142T= (p.Trp48=)
n.243T=
c.-51T= (n.-51T=)
n.370T=
n.196T=
22g.19918996A>CCA410694088TXNRD2c.238T>G (p.Trp80Gly)
c.148T>G (p.Trp50Gly)
c.235T>G (p.Trp79Gly)
c.169T>G (p.Trp57Gly)
c.181T>G (p.Trp61Gly)
c.142T>G (p.Trp48Gly)
n.243T>G
c.-51T>G (n.-51T>G)
n.370T>G
n.196T>G
22g.19918996A>GCA10104281TXNRD2c.238T>C (p.Trp80Arg)
c.148T>C (p.Trp50Arg)
c.235T>C (p.Trp79Arg)
c.169T>C (p.Trp57Arg)
c.181T>C (p.Trp61Arg)
c.142T>C (p.Trp48Arg)
n.243T>C
c.-51T>C (n.-51T>C)
n.370T>C
n.196T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.19918996A>TCA410694091TXNRD2c.238T>A (p.Trp80Arg)
c.148T>A (p.Trp50Arg)
c.235T>A (p.Trp79Arg)
c.169T>A (p.Trp57Arg)
c.181T>A (p.Trp61Arg)
c.142T>A (p.Trp48Arg)
n.243T>A
c.-51T>A (n.-51T>A)
n.370T>A
n.196T>A
22g.19918997C>ACA513369117TXNRD2c.237G>T (p.Arg79=)
c.147G>T (p.Arg49=)
c.234G>T (p.Arg78=)
c.168G>T (p.Arg56=)
c.180G>T (p.Arg60=)
c.141G>T (p.Arg47=)
n.242G>T
c.-52G>T (n.-52G>T)
n.369G>T
n.195G>T
22g.19918997C=CA2396103800TXNRD2c.237G= (p.Arg79=)
c.147G= (p.Arg49=)
c.234G= (p.Arg78=)
c.168G= (p.Arg56=)
c.180G= (p.Arg60=)
c.141G= (p.Arg47=)
n.242G=
c.-52G= (n.-52G=)
n.369G=
n.195G=
22g.19918997C>GCA513369116TXNRD2c.237G>C (p.Arg79=)
c.147G>C (p.Arg49=)
c.234G>C (p.Arg78=)
c.168G>C (p.Arg56=)
c.180G>C (p.Arg60=)
c.141G>C (p.Arg47=)
n.242G>C
c.-52G>C (n.-52G>C)
n.369G>C
n.195G>C
22g.19918997C>TCA10104282TXNRD2c.237G>A (p.Arg79=)
c.147G>A (p.Arg49=)
c.234G>A (p.Arg78=)
c.168G>A (p.Arg56=)
c.180G>A (p.Arg60=)
c.141G>A (p.Arg47=)
n.242G>A
c.-52G>A (n.-52G>A)
n.369G>A
n.195G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19918998C>ACA345904TXNRD2c.236G>T (p.Arg79Leu)
c.146G>T (p.Arg49Leu)
c.233G>T (p.Arg78Leu)
c.167G>T (p.Arg56Leu)
c.179G>T (p.Arg60Leu)
c.140G>T (p.Arg47Leu)
n.241G>T
c.-53G>T (n.-53G>T)
n.368G>T
n.194G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.19918998C=CA2396103801TXNRD2c.236G= (p.Arg79=)
c.146G= (p.Arg49=)
c.233G= (p.Arg78=)
c.167G= (p.Arg56=)
c.179G= (p.Arg60=)
c.140G= (p.Arg47=)
n.241G=
c.-53G= (n.-53G=)
n.368G=
n.194G=
22g.19918998C>GCA410694094TXNRD2c.236G>C (p.Arg79Pro)
c.146G>C (p.Arg49Pro)
c.233G>C (p.Arg78Pro)
c.167G>C (p.Arg56Pro)
c.179G>C (p.Arg60Pro)
c.140G>C (p.Arg47Pro)
n.241G>C
c.-53G>C (n.-53G>C)
n.368G>C
n.194G>C
22g.19918998C>TCA068118TXNRD2c.236G>A (p.Arg79Gln)
c.146G>A (p.Arg49Gln)
c.233G>A (p.Arg78Gln)
c.167G>A (p.Arg56Gln)
c.179G>A (p.Arg60Gln)
c.140G>A (p.Arg47Gln)
n.241G>A
c.-53G>A (n.-53G>A)
n.368G>A
n.194G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19918999G>ACA10104283TXNRD2c.235C>T (p.Arg79Trp)
c.145C>T (p.Arg49Trp)
c.232C>T (p.Arg78Trp)
c.166C>T (p.Arg56Trp)
c.178C>T (p.Arg60Trp)
c.139C>T (p.Arg47Trp)
n.240C>T
c.-54C>T (n.-54C>T)
n.367C>T
n.193C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
22g.19918999G>CCA410694097TXNRD2c.235C>G (p.Arg79Gly)
c.145C>G (p.Arg49Gly)
c.232C>G (p.Arg78Gly)
c.166C>G (p.Arg56Gly)
c.178C>G (p.Arg60Gly)
c.139C>G (p.Arg47Gly)
n.240C>G
c.-54C>G (n.-54C>G)
n.367C>G
n.193C>G
22g.19918999G=CA2396103802TXNRD2c.235C= (p.Arg79=)
c.145C= (p.Arg49=)
c.232C= (p.Arg78=)
c.166C= (p.Arg56=)
c.178C= (p.Arg60=)
c.139C= (p.Arg47=)
n.240C=
c.-54C= (n.-54C=)
n.367C=
n.193C=
22g.19918999G>TCA513369118TXNRD2c.235C>A (p.Arg79=)
c.145C>A (p.Arg49=)
c.232C>A (p.Arg78=)
c.166C>A (p.Arg56=)
c.178C>A (p.Arg60=)
c.139C>A (p.Arg47=)
n.240C>A
c.-54C>A (n.-54C>A)
n.367C>A
n.193C>A
 gnomAD v4

Number of alleles fetched