| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.19918898del | CA2655329351 | TXNRD2 | c.336del (p.Tyr113MetfsTer24) c.246del (p.Tyr83MetfsTer24) c.333del (p.Tyr112MetfsTer24) c.267del (p.Tyr90MetfsTer24) c.279del (p.Tyr94MetfsTer24) c.240del (p.Tyr81MetfsTer24) n.341del c.48del (p.Tyr17MetfsTer24) n.468del n.294del | gnomAD v4 |
| 22 | g.19918898G>A | CA513369056 | TXNRD2 | c.336C>T (p.Asn112=) c.246C>T (p.Asn82=) c.333C>T (p.Asn111=) c.267C>T (p.Asn89=) c.279C>T (p.Asn93=) c.240C>T (p.Asn80=) n.341C>T c.48C>T (p.Asn16=) n.468C>T n.294C>T | |
| 22 | g.19918898G>C | CA410693747 | TXNRD2 | c.336C>G (p.Asn112Lys) c.246C>G (p.Asn82Lys) c.333C>G (p.Asn111Lys) c.267C>G (p.Asn89Lys) c.279C>G (p.Asn93Lys) c.240C>G (p.Asn80Lys) n.341C>G c.48C>G (p.Asn16Lys) n.468C>G n.294C>G | |
| 22 | g.19918898G= | CA2396103740 | TXNRD2 | c.336C= (p.Asn112=) c.246C= (p.Asn82=) c.333C= (p.Asn111=) c.267C= (p.Asn89=) c.279C= (p.Asn93=) c.240C= (p.Asn80=) n.341C= c.48C= (p.Asn16=) n.468C= n.294C= | |
| 22 | g.19918898G>T | CA410693749 | TXNRD2 | c.336C>A (p.Asn112Lys) c.246C>A (p.Asn82Lys) c.333C>A (p.Asn111Lys) c.267C>A (p.Asn89Lys) c.279C>A (p.Asn93Lys) c.240C>A (p.Asn80Lys) n.341C>A c.48C>A (p.Asn16Lys) n.468C>A n.294C>A | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.19918899T>A | CA410693750 | TXNRD2 | c.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 |
| 22 | g.19918899T>C | CA10104261 | TXNRD2 | c.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 |
| 22 | g.19918899T>G | CA410693752 | TXNRD2 | c.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 |
| 22 | g.19918899T= | CA2396103741 | TXNRD2 | c.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= | |
| 22 | g.19918900T>A | CA410693756 | TXNRD2 | c.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 | |
| 22 | g.19918900T>C | CA322105575 | TXNRD2 | c.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 |
| 22 | g.19918900T>G | CA410693754 | TXNRD2 | c.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 | |
| 22 | g.19918900T= | CA2396103742 | TXNRD2 | c.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= | |
| 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 |