| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.19918901G>A | CA513369059 | TXNRD2 | c.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 |
| 22 | g.19918901G>C | CA513369058 | TXNRD2 | c.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 | |
| 22 | g.19918901G= | CA2396103743 | TXNRD2 | c.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= | |
| 22 | g.19918901G>T | CA513369057 | TXNRD2 | c.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 |
| 22 | g.19918905del | CA2655329353 | TXNRD2 | c.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 |
| 22 | g.19918903_19918905del | CA2655329354 | TXNRD2 | c.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 |
| 22 | g.19918902G>A | CA410693758 | TXNRD2 | c.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 |
| 22 | g.19918902G>C | CA410693759 | TXNRD2 | c.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 | |
| 22 | g.19918902G>T | CA410693760 | TXNRD2 | c.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 | |
| 22 | g.19918903G>A | CA410693762 | TXNRD2 | c.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 |
| 22 | g.19918903G>C | CA410693764 | TXNRD2 | c.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 | |
| 22 | g.19918903G>T | CA410693765 | TXNRD2 | c.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 |
| 22 | g.19918904G>A | CA513369062 | TXNRD2 | c.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 | |
| 22 | g.19918904G>C | CA513369061 | TXNRD2 | c.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 | |
| 22 | g.19918904G>T | CA513369060 | TXNRD2 | c.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 |
| 22 | g.19918905G>A | CA410693767 | TXNRD2 | c.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 |
| 22 | g.19918905G>C | CA410693769 | TXNRD2 | c.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 | |
| 22 | g.19918905G>T | CA410693770 | TXNRD2 | c.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 |
| 22 | g.19918906C>A | CA410693772 | TXNRD2 | c.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 |
| 22 | g.19918906C>G | CA410693773 | TXNRD2 | c.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 | |
| 22 | g.19918906C>T | CA410693775 | TXNRD2 | c.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 |
| 22 | g.19918907A>C | CA410693778 | TXNRD2 | c.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 | |
| 22 | g.19918907A>G | CA513369063 | TXNRD2 | c.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 | |
| 22 | g.19918907A>T | CA410693777 | TXNRD2 | c.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 | |
| 22 | g.19918908T>A | CA410693780 | TXNRD2 | c.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 | |
| 22 | g.19918908T>C | CA410693782 | TXNRD2 | c.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 | |
| 22 | g.19918908T>G | CA410693781 | TXNRD2 | c.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 | |
| 22 | g.19918909C>A | CA410693784 | TXNRD2 | c.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 | |
| 22 | g.19918909C= | CA2396103744 | TXNRD2 | c.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= | |
| 22 | g.19918909C>G | CA410693787 | TXNRD2 | c.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 | |
| 22 | g.19918909C>T | CA410693785 | TXNRD2 | c.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 |
| 22 | g.19918910T>A | CA410693789 | TXNRD2 | c.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 | |
| 22 | g.19918910T>C | CA513369064 | TXNRD2 | c.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 |
| 22 | g.19918910T>G | CA410693791 | TXNRD2 | c.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 | |
| 22 | g.19918910T= | CA2396103745 | TXNRD2 | c.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= | |
| 22 | g.19918911T>A | CA410693792 | TXNRD2 | c.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 | |
| 22 | g.19918911T>C | CA410693793 | TXNRD2 | c.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 |
| 22 | g.19918911T>G | CA410693795 | TXNRD2 | c.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 | |
| 22 | g.19918911T= | CA2396103746 | TXNRD2 | c.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= | |
| 22 | g.19918912G>A | CA410693797 | TXNRD2 | c.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 | |
| 22 | g.19918912G>C | CA410693798 | TXNRD2 | c.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 | |
| 22 | g.19918912G>T | CA410693800 | TXNRD2 | c.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 |
| 22 | g.19918913G>A | CA513369066 | TXNRD2 | c.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 |
| 22 | g.19918913G>C | CA410693802 | TXNRD2 | c.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 | |
| 22 | g.19918913G>T | CA513369065 | TXNRD2 | c.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 | |
| 22 | g.19918914A>C | CA410693804 | TXNRD2 | c.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 | |
| 22 | g.19918914A>G | CA410693806 | TXNRD2 | c.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 | |
| 22 | g.19918914A>T | CA410693807 | TXNRD2 | c.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 |
| 22 | g.19918915T>A | CA410693809 | TXNRD2 | c.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 | |
| 22 | g.19918915T>C | CA410693810 | TXNRD2 | c.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 |