Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.162282439G>A | CA429536023 | IFIH1 | c.*830C>T (n.*830C>T) c.1233C>T (p.Ile411=) n.843C>T c.921C>T (p.Ile307=) c.516C>T (p.Ile172=) | |
2 | g.162282439G>C | CA349002798 | IFIH1 | c.*830C>G (n.*830C>G) c.1233C>G (p.Ile411Met) n.843C>G c.921C>G (p.Ile307Met) c.516C>G (p.Ile172Met) | |
2 | g.162282439G>T | CA429536025 | IFIH1 | c.*830C>A (n.*830C>A) c.1233C>A (p.Ile411=) n.843C>A c.921C>A (p.Ile307=) c.516C>A (p.Ile172=) | |
2 | g.162282439_162282442delinsGATA | CA1303149319 | IFIH1 | c.*827_*830delinsTATC (n.*827_*830delinsTATC) c.1230_1233delinsTATC (p.Ile410=) n.840_843delinsTATC c.918_921delinsTATC (p.Ile306=) c.513_516delinsTATC (p.Ile171=) | |
2 | g.162282440A= | CA1303149320 | IFIH1 | c.*829T= (n.*829T=) c.1232T= (p.Ile411=) n.842T= c.920T= (p.Ile307=) c.515T= (p.Ile172=) | |
2 | g.162282440A>C | CA349002799 | IFIH1 | c.*829T>G (n.*829T>G) c.1232T>G (p.Ile411Ser) n.842T>G c.920T>G (p.Ile307Ser) c.515T>G (p.Ile172Ser) | |
2 | g.162282440A>G | CA349002800 | IFIH1 | c.*829T>C (n.*829T>C) c.1232T>C (p.Ile411Thr) n.842T>C c.920T>C (p.Ile307Thr) c.515T>C (p.Ile172Thr) | ClinVar dbSNP gnomAD v4 |
2 | g.162282440A>T | CA349002801 | IFIH1 | c.*829T>A (n.*829T>A) c.1232T>A (p.Ile411Asn) n.842T>A c.920T>A (p.Ile307Asn) c.515T>A (p.Ile172Asn) | |
2 | g.162282446_162282448del | CA537507540 | IFIH1 | c.*827_*829del (n.*827_*829del) c.1230_1232del (p.Ile411del) n.840_842del c.918_920del (p.Ile307del) c.513_515del (p.Ile172del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.162282441T>A | CA349002802 | IFIH1 | c.*828A>T (n.*828A>T) c.1231A>T (p.Ile411Phe) n.841A>T c.919A>T (p.Ile307Phe) c.514A>T (p.Ile172Phe) | |
2 | g.162282441T>C | CA349002803 | IFIH1 | c.*828A>G (n.*828A>G) c.1231A>G (p.Ile411Val) n.841A>G c.919A>G (p.Ile307Val) c.514A>G (p.Ile172Val) | dbSNP |
2 | g.162282441T>G | CA349002804 | IFIH1 | c.*828A>C (n.*828A>C) c.1231A>C (p.Ile411Leu) n.841A>C c.919A>C (p.Ile307Leu) c.514A>C (p.Ile172Leu) | |
2 | g.162282442A>C | CA349002805 | IFIH1 | c.*827T>G (n.*827T>G) c.1230T>G (p.Ile410Met) n.840T>G c.918T>G (p.Ile306Met) c.513T>G (p.Ile171Met) | dbSNP gnomAD v4 |
2 | g.162282442A>G | CA429536026 | IFIH1 | c.*827T>C (n.*827T>C) c.1230T>C (p.Ile410=) n.840T>C c.918T>C (p.Ile306=) c.513T>C (p.Ile171=) | |
2 | g.162282442A>T | CA429536027 | IFIH1 | c.*827T>A (n.*827T>A) c.1230T>A (p.Ile410=) n.840T>A c.918T>A (p.Ile306=) c.513T>A (p.Ile171=) | |
2 | g.162282443A= | CA1303149321 | IFIH1 | c.*826T= (n.*826T=) c.1229T= (p.Ile410=) n.839T= c.917T= (p.Ile306=) c.512T= (p.Ile171=) | |
2 | g.162282443A>C | CA1934586 | IFIH1 | c.*826T>G (n.*826T>G) c.1229T>G (p.Ile410Ser) n.839T>G c.917T>G (p.Ile306Ser) c.512T>G (p.Ile171Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.162282443A>G | CA16603898 | IFIH1 | c.*826T>C (n.*826T>C) c.1229T>C (p.Ile410Thr) n.839T>C c.917T>C (p.Ile306Thr) c.512T>C (p.Ile171Thr) | ClinVar dbSNP gnomAD v4 |
2 | g.162282443A>T | CA349002806 | IFIH1 | c.*826T>A (n.*826T>A) c.1229T>A (p.Ile410Asn) n.839T>A c.917T>A (p.Ile306Asn) c.512T>A (p.Ile171Asn) | dbSNP |
2 | g.162282444T>A | CA349002807 | IFIH1 | c.*825A>T (n.*825A>T) c.1228A>T (p.Ile410Phe) n.838A>T c.916A>T (p.Ile306Phe) c.511A>T (p.Ile171Phe) | |
2 | g.162282444T>C | CA1934587 | IFIH1 | c.*825A>G (n.*825A>G) c.1228A>G (p.Ile410Val) n.838A>G c.916A>G (p.Ile306Val) c.511A>G (p.Ile171Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.162282444T>G | CA349002808 | IFIH1 | c.*825A>C (n.*825A>C) c.1228A>C (p.Ile410Leu) n.838A>C c.916A>C (p.Ile306Leu) c.511A>C (p.Ile171Leu) | |
2 | g.162282444T= | CA1303149322 | IFIH1 | c.*825A= (n.*825A=) c.1228A= (p.Ile410=) n.838A= c.916A= (p.Ile306=) c.511A= (p.Ile171=) | |
2 | g.162282445A>C | CA349002809 | IFIH1 | c.*824T>G (n.*824T>G) c.1227T>G (p.Ile409Met) n.837T>G c.915T>G (p.Ile305Met) c.510T>G (p.Ile170Met) | |
2 | g.162282445A>G | CA429536029 | IFIH1 | c.*824T>C (n.*824T>C) c.1227T>C (p.Ile409=) n.837T>C c.915T>C (p.Ile305=) c.510T>C (p.Ile170=) | |
2 | g.162282445A>T | CA429536030 | IFIH1 | c.*824T>A (n.*824T>A) c.1227T>A (p.Ile409=) n.837T>A c.915T>A (p.Ile305=) c.510T>A (p.Ile170=) | |
2 | g.162282446A= | CA1303149323 | IFIH1 | c.*823T= (n.*823T=) c.1226T= (p.Ile409=) n.836T= c.914T= (p.Ile305=) c.509T= (p.Ile170=) | |
2 | g.162282446A>C | CA349002810 | IFIH1 | c.*823T>G (n.*823T>G) c.1226T>G (p.Ile409Ser) n.836T>G c.914T>G (p.Ile305Ser) c.509T>G (p.Ile170Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.162282446A>G | CA349002811 | IFIH1 | c.*823T>C (n.*823T>C) c.1226T>C (p.Ile409Thr) n.836T>C c.914T>C (p.Ile305Thr) c.509T>C (p.Ile170Thr) | |
2 | g.162282446A>T | CA349002812 | IFIH1 | c.*823T>A (n.*823T>A) c.1226T>A (p.Ile409Asn) n.836T>A c.914T>A (p.Ile305Asn) c.509T>A (p.Ile170Asn) | dbSNP |
2 | g.162282447T>A | CA349002813 | IFIH1 | c.*822A>T (n.*822A>T) c.1225A>T (p.Ile409Phe) n.835A>T c.913A>T (p.Ile305Phe) c.508A>T (p.Ile170Phe) | |
2 | g.162282447T>C | CA1934588 | IFIH1 | c.*822A>G (n.*822A>G) c.1225A>G (p.Ile409Val) n.835A>G c.913A>G (p.Ile305Val) c.508A>G (p.Ile170Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.162282447T>G | CA349002814 | IFIH1 | c.*822A>C (n.*822A>C) c.1225A>C (p.Ile409Leu) n.835A>C c.913A>C (p.Ile305Leu) c.508A>C (p.Ile170Leu) | |
2 | g.162282447T= | CA1303149324 | IFIH1 | c.*822A= (n.*822A=) c.1225A= (p.Ile409=) n.835A= c.913A= (p.Ile305=) c.508A= (p.Ile170=) | |
2 | g.162282448A>C | CA349002815 | IFIH1 | c.*821T>G (n.*821T>G) c.1224T>G (p.Asp408Glu) n.834T>G c.912T>G (p.Asp304Glu) c.507T>G (p.Asp169Glu) | |
2 | g.162282448A>G | CA429536036 | IFIH1 | c.*821T>C (n.*821T>C) c.1224T>C (p.Asp408=) n.834T>C c.912T>C (p.Asp304=) c.507T>C (p.Asp169=) | gnomAD v4 |
2 | g.162282448A>T | CA349002816 | IFIH1 | c.*821T>A (n.*821T>A) c.1224T>A (p.Asp408Glu) n.834T>A c.912T>A (p.Asp304Glu) c.507T>A (p.Asp169Glu) | |
2 | g.162282449T>A | CA349002817 | IFIH1 | c.*820A>T (n.*820A>T) c.1223A>T (p.Asp408Val) n.833A>T c.911A>T (p.Asp304Val) c.506A>T (p.Asp169Val) | |
2 | g.162282449T>C | CA349002818 | IFIH1 | c.*820A>G (n.*820A>G) c.1223A>G (p.Asp408Gly) n.833A>G c.911A>G (p.Asp304Gly) c.506A>G (p.Asp169Gly) | |
2 | g.162282449T>G | CA349002819 | IFIH1 | c.*820A>C (n.*820A>C) c.1223A>C (p.Asp408Ala) n.833A>C c.911A>C (p.Asp304Ala) c.506A>C (p.Asp169Ala) | gnomAD v4 |
2 | g.162282450C>A | CA349002820 | IFIH1 | c.*819G>T (n.*819G>T) c.1222G>T (p.Asp408Tyr) n.832G>T c.910G>T (p.Asp304Tyr) c.505G>T (p.Asp169Tyr) | |
2 | g.162282450C= | CA1303149325 | IFIH1 | c.*819G= (n.*819G=) c.1222G= (p.Asp408=) n.832G= c.910G= (p.Asp304=) c.505G= (p.Asp169=) | |
2 | g.162282450C>G | CA349002821 | IFIH1 | c.*819G>C (n.*819G>C) c.1222G>C (p.Asp408His) n.832G>C c.910G>C (p.Asp304His) c.505G>C (p.Asp169His) | |
2 | g.162282450C>T | CA1934589 | IFIH1 | c.*819G>A (n.*819G>A) c.1222G>A (p.Asp408Asn) n.832G>A c.910G>A (p.Asp304Asn) c.505G>A (p.Asp169Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.162282451A>C | CA349002823 | IFIH1 | c.*818T>G (n.*818T>G) c.1221T>G (p.Cys407Trp) n.831T>G c.909T>G (p.Cys303Trp) c.504T>G (p.Cys168Trp) | |
2 | g.162282451A>G | CA429536040 | IFIH1 | c.*818T>C (n.*818T>C) c.1221T>C (p.Cys407=) n.831T>C c.909T>C (p.Cys303=) c.504T>C (p.Cys168=) | |
2 | g.162282451A>T | CA349002822 | IFIH1 | c.*818T>A (n.*818T>A) c.1221T>A (p.Cys407Ter) n.831T>A c.909T>A (p.Cys303Ter) c.504T>A (p.Cys168Ter) | |
2 | g.162282452C>A | CA349002824 | IFIH1 | c.*817G>T (n.*817G>T) c.1220G>T (p.Cys407Phe) n.830G>T c.908G>T (p.Cys303Phe) c.503G>T (p.Cys168Phe) | COSMIC |
2 | g.162282452C= | CA1303149326 | IFIH1 | c.*817G= (n.*817G=) c.1220G= (p.Cys407=) n.830G= c.908G= (p.Cys303=) c.503G= (p.Cys168=) | |
2 | g.162282452C>G | CA349002825 | IFIH1 | c.*817G>C (n.*817G>C) c.1220G>C (p.Cys407Ser) n.830G>C c.908G>C (p.Cys303Ser) c.503G>C (p.Cys168Ser) | |
2 | g.162282452C>T | CA349002826 | IFIH1 | c.*817G>A (n.*817G>A) c.1220G>A (p.Cys407Tyr) n.830G>A c.908G>A (p.Cys303Tyr) c.503G>A (p.Cys168Tyr) | ClinVar dbSNP |
2 | g.162282453A= | CA1303149327 | IFIH1 | c.*816T= (n.*816T=) c.1219T= (p.Cys407=) n.829T= c.907T= (p.Cys303=) c.502T= (p.Cys168=) | |
2 | g.162282453A>C | CA349002827 | IFIH1 | c.*816T>G (n.*816T>G) c.1219T>G (p.Cys407Gly) n.829T>G c.907T>G (p.Cys303Gly) c.502T>G (p.Cys168Gly) | |
2 | g.162282453A>G | CA1934590 | IFIH1 | c.*816T>C (n.*816T>C) c.1219T>C (p.Cys407Arg) n.829T>C c.907T>C (p.Cys303Arg) c.502T>C (p.Cys168Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.162282453A>T | CA349002828 | IFIH1 | c.*816T>A (n.*816T>A) c.1219T>A (p.Cys407Ser) n.829T>A c.907T>A (p.Cys303Ser) c.502T>A (p.Cys168Ser) | |
2 | g.162282454G>A | CA429536045 | IFIH1 | c.*815C>T (n.*815C>T) c.1218C>T (p.Ser406=) n.828C>T c.906C>T (p.Ser302=) c.501C>T (p.Ser167=) | dbSNP COSMIC |
2 | g.162282454G>C | CA429536046 | IFIH1 | c.*815C>G (n.*815C>G) c.1218C>G (p.Ser406=) n.828C>G c.906C>G (p.Ser302=) c.501C>G (p.Ser167=) | |
2 | g.162282454G= | CA1303149328 | IFIH1 | c.*815C= (n.*815C=) c.1218C= (p.Ser406=) n.828C= c.906C= (p.Ser302=) c.501C= (p.Ser167=) | |
2 | g.162282454G>T | CA429536044 | IFIH1 | c.*815C>A (n.*815C>A) c.1218C>A (p.Ser406=) n.828C>A c.906C>A (p.Ser302=) c.501C>A (p.Ser167=) | |
2 | g.162282455G>A | CA349002829 | IFIH1 | c.*814C>T (n.*814C>T) c.1217C>T (p.Ser406Phe) n.827C>T c.905C>T (p.Ser302Phe) c.500C>T (p.Ser167Phe) | |
2 | g.162282455G>C | CA349002831 | IFIH1 | c.*814C>G (n.*814C>G) c.1217C>G (p.Ser406Cys) n.827C>G c.905C>G (p.Ser302Cys) c.500C>G (p.Ser167Cys) | gnomAD v4 |
2 | g.162282455G>T | CA349002830 | IFIH1 | c.*814C>A (n.*814C>A) c.1217C>A (p.Ser406Tyr) n.827C>A c.905C>A (p.Ser302Tyr) c.500C>A (p.Ser167Tyr) | |
2 | g.162282456A>C | CA349002832 | IFIH1 | c.*813T>G (n.*813T>G) c.1216T>G (p.Ser406Ala) n.826T>G c.904T>G (p.Ser302Ala) c.499T>G (p.Ser167Ala) | |
2 | g.162282456A>G | CA349002833 | IFIH1 | c.*813T>C (n.*813T>C) c.1216T>C (p.Ser406Pro) n.826T>C c.904T>C (p.Ser302Pro) c.499T>C (p.Ser167Pro) | gnomAD v4 |
2 | g.162282456A>T | CA349002834 | IFIH1 | c.*813T>A (n.*813T>A) c.1216T>A (p.Ser406Thr) n.826T>A c.904T>A (p.Ser302Thr) c.499T>A (p.Ser167Thr) | |
2 | g.162282457C>A | CA349002835 | IFIH1 | c.*812G>T (n.*812G>T) c.1215G>T (p.Lys405Asn) n.825G>T c.903G>T (p.Lys301Asn) c.498G>T (p.Lys166Asn) | |
2 | g.162282457C= | CA1303149329 | IFIH1 | c.*812G= (n.*812G=) c.1215G= (p.Lys405=) n.825G= c.903G= (p.Lys301=) c.498G= (p.Lys166=) | |
2 | g.162282457C>G | CA349002836 | IFIH1 | c.*812G>C (n.*812G>C) c.1215G>C (p.Lys405Asn) n.825G>C c.903G>C (p.Lys301Asn) c.498G>C (p.Lys166Asn) | gnomAD v4 |
2 | g.162282457C>T | CA429536050 | IFIH1 | c.*812G>A (n.*812G>A) c.1215G>A (p.Lys405=) n.825G>A c.903G>A (p.Lys301=) c.498G>A (p.Lys166=) | dbSNP gnomAD v4 |
2 | g.162282458T>A | CA349002837 | IFIH1 | c.*811A>T (n.*811A>T) c.1214A>T (p.Lys405Met) n.824A>T c.902A>T (p.Lys301Met) c.497A>T (p.Lys166Met) | |
2 | g.162282458T>C | CA349002838 | IFIH1 | c.*811A>G (n.*811A>G) c.1214A>G (p.Lys405Arg) n.824A>G c.902A>G (p.Lys301Arg) c.497A>G (p.Lys166Arg) | gnomAD v4 |
2 | g.162282458T>G | CA349002839 | IFIH1 | c.*811A>C (n.*811A>C) c.1214A>C (p.Lys405Thr) n.824A>C c.902A>C (p.Lys301Thr) c.497A>C (p.Lys166Thr) | gnomAD v4 |
2 | g.162282459T>A | CA349002840 | IFIH1 | c.*810A>T (n.*810A>T) c.1213A>T (p.Lys405Ter) n.823A>T c.901A>T (p.Lys301Ter) c.496A>T (p.Lys166Ter) | |
2 | g.162282459T>C | CA349002841 | IFIH1 | c.*810A>G (n.*810A>G) c.1213A>G (p.Lys405Glu) n.823A>G c.901A>G (p.Lys301Glu) c.496A>G (p.Lys166Glu) | |
2 | g.162282459T>G | CA349002842 | IFIH1 | c.*810A>C (n.*810A>C) c.1213A>C (p.Lys405Gln) n.823A>C c.901A>C (p.Lys301Gln) c.496A>C (p.Lys166Gln) | |
2 | g.162282460G>A | CA429536052 | IFIH1 | c.*809C>T (n.*809C>T) c.1212C>T (p.Val404=) n.822C>T c.900C>T (p.Val300=) c.495C>T (p.Val165=) | |
2 | g.162282460G>C | CA429536053 | IFIH1 | c.*809C>G (n.*809C>G) c.1212C>G (p.Val404=) n.822C>G c.900C>G (p.Val300=) c.495C>G (p.Val165=) | |
2 | g.162282460G= | CA1303149330 | IFIH1 | c.*809C= (n.*809C=) c.1212C= (p.Val404=) n.822C= c.900C= (p.Val300=) c.495C= (p.Val165=) | |
2 | g.162282460G>T | CA1934591 | IFIH1 | c.*809C>A (n.*809C>A) c.1212C>A (p.Val404=) n.822C>A c.900C>A (p.Val300=) c.495C>A (p.Val165=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.162282461A= | CA1303149331 | IFIH1 | c.*808T= (n.*808T=) c.1211T= (p.Val404=) n.821T= c.899T= (p.Val300=) c.494T= (p.Val165=) | |
2 | g.162282461A>C | CA349002844 | IFIH1 | c.*808T>G (n.*808T>G) c.1211T>G (p.Val404Gly) n.821T>G c.899T>G (p.Val300Gly) c.494T>G (p.Val165Gly) | |
2 | g.162282461A>G | CA59665876 | IFIH1 | c.*808T>C (n.*808T>C) c.1211T>C (p.Val404Ala) n.821T>C c.899T>C (p.Val300Ala) c.494T>C (p.Val165Ala) | ClinVar dbSNP gnomAD v4 |
2 | g.162282461A>T | CA349002843 | IFIH1 | c.*808T>A (n.*808T>A) c.1211T>A (p.Val404Asp) n.821T>A c.899T>A (p.Val300Asp) c.494T>A (p.Val165Asp) | |
2 | g.162282462C>A | CA349002845 | IFIH1 | c.*807G>T (n.*807G>T) c.1210G>T (p.Val404Phe) n.820G>T c.898G>T (p.Val300Phe) c.493G>T (p.Val165Phe) | gnomAD v4 |
2 | g.162282462C= | CA1303149332 | IFIH1 | c.*807G= (n.*807G=) c.1210G= (p.Val404=) n.820G= c.898G= (p.Val300=) c.493G= (p.Val165=) | |
2 | g.162282462C>G | CA349002846 | IFIH1 | c.*807G>C (n.*807G>C) c.1210G>C (p.Val404Leu) n.820G>C c.898G>C (p.Val300Leu) c.493G>C (p.Val165Leu) | |
2 | g.162282462C>T | CA1934592 | IFIH1 | c.*807G>A (n.*807G>A) c.1210G>A (p.Val404Ile) n.820G>A c.898G>A (p.Val300Ile) c.493G>A (p.Val165Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.162282463A>C | CA429536055 | IFIH1 | c.*806T>G (n.*806T>G) c.1209T>G (p.Val403=) n.819T>G c.897T>G (p.Val299=) c.492T>G (p.Val164=) | |
2 | g.162282463A>G | CA429536056 | IFIH1 | c.*806T>C (n.*806T>C) c.1209T>C (p.Val403=) n.819T>C c.897T>C (p.Val299=) c.492T>C (p.Val164=) | |
2 | g.162282463A>T | CA429536057 | IFIH1 | c.*806T>A (n.*806T>A) c.1209T>A (p.Val403=) n.819T>A c.897T>A (p.Val299=) c.492T>A (p.Val164=) | |
2 | g.162282464A= | CA1303149333 | IFIH1 | c.*805T= (n.*805T=) c.1208T= (p.Val403=) n.818T= c.896T= (p.Val299=) c.491T= (p.Val164=) | |
2 | g.162282464A>C | CA349002847 | IFIH1 | c.*805T>G (n.*805T>G) c.1208T>G (p.Val403Gly) n.818T>G c.896T>G (p.Val299Gly) c.491T>G (p.Val164Gly) | |
2 | g.162282464A>G | CA1934593 | IFIH1 | c.*805T>C (n.*805T>C) c.1208T>C (p.Val403Ala) n.818T>C c.896T>C (p.Val299Ala) c.491T>C (p.Val164Ala) | ClinVar dbSNP ExAC gnomAD v4 |
2 | g.162282464A>T | CA349002848 | IFIH1 | c.*805T>A (n.*805T>A) c.1208T>A (p.Val403Asp) n.818T>A c.896T>A (p.Val299Asp) c.491T>A (p.Val164Asp) | |
2 | g.162282465C>A | CA349002849 | IFIH1 | c.*804G>T (n.*804G>T) c.1207G>T (p.Val403Phe) n.817G>T c.895G>T (p.Val299Phe) c.490G>T (p.Val164Phe) | |
2 | g.162282465C>G | CA349002850 | IFIH1 | c.*804G>C (n.*804G>C) c.1207G>C (p.Val403Leu) n.817G>C c.895G>C (p.Val299Leu) c.490G>C (p.Val164Leu) | |
2 | g.162282465C>T | CA349002851 | IFIH1 | c.*804G>A (n.*804G>A) c.1207G>A (p.Val403Ile) n.817G>A c.895G>A (p.Val299Ile) c.490G>A (p.Val164Ile) | ClinVar gnomAD v4 |
2 | g.162282467_162282469del | CA2661689403 | IFIH1 | c.*802_*804del (n.*802_*804del) c.1205_1207del (p.Glu402del) n.815_817del c.893_895del (p.Glu298del) c.488_490del (p.Glu163del) | gnomAD v4 |
2 | g.162282466T>A | CA349002852 | IFIH1 | c.*803A>T (n.*803A>T) c.1206A>T (p.Glu402Asp) n.816A>T c.894A>T (p.Glu298Asp) c.489A>T (p.Glu163Asp) | |
2 | g.162282466T>C | CA429536060 | IFIH1 | c.*803A>G (n.*803A>G) c.1206A>G (p.Glu402=) n.816A>G c.894A>G (p.Glu298=) c.489A>G (p.Glu163=) | |
2 | g.162282466T>G | CA349002853 | IFIH1 | c.*803A>C (n.*803A>C) c.1206A>C (p.Glu402Asp) n.816A>C c.894A>C (p.Glu298Asp) c.489A>C (p.Glu163Asp) | |
2 | g.162282467T>A | CA349002856 | IFIH1 | c.*802A>T (n.*802A>T) c.1205A>T (p.Glu402Val) n.815A>T c.893A>T (p.Glu298Val) c.488A>T (p.Glu163Val) | |
2 | g.162282467T>C | CA349002855 | IFIH1 | c.*802A>G (n.*802A>G) c.1205A>G (p.Glu402Gly) n.815A>G c.893A>G (p.Glu298Gly) c.488A>G (p.Glu163Gly) | |
2 | g.162282467T>G | CA349002854 | IFIH1 | c.*802A>C (n.*802A>C) c.1205A>C (p.Glu402Ala) n.815A>C c.893A>C (p.Glu298Ala) c.488A>C (p.Glu163Ala) | |
2 | g.162282468C>A | CA349002857 | IFIH1 | c.*801G>T (n.*801G>T) c.1204G>T (p.Glu402Ter) n.814G>T c.892G>T (p.Glu298Ter) c.487G>T (p.Glu163Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.162282468C>G | CA349002858 | IFIH1 | c.*801G>C (n.*801G>C) c.1204G>C (p.Glu402Gln) n.814G>C c.892G>C (p.Glu298Gln) c.487G>C (p.Glu163Gln) | gnomAD v4 |
2 | g.162282468C>T | CA349002859 | IFIH1 | c.*801G>A (n.*801G>A) c.1204G>A (p.Glu402Lys) n.814G>A c.892G>A (p.Glu298Lys) c.487G>A (p.Glu163Lys) | |
2 | g.162282469T>A | CA429536064 | IFIH1 | c.*800A>T (n.*800A>T) c.1203A>T (p.Pro401=) n.813A>T c.891A>T (p.Pro297=) c.486A>T (p.Pro162=) | |
2 | g.162282469T>C | CA59665899 | IFIH1 | c.*800A>G (n.*800A>G) c.1203A>G (p.Pro401=) n.813A>G c.891A>G (p.Pro297=) c.486A>G (p.Pro162=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.162282469T>G | CA429536065 | IFIH1 | c.*800A>C (n.*800A>C) c.1203A>C (p.Pro401=) n.813A>C c.891A>C (p.Pro297=) c.486A>C (p.Pro162=) | |
2 | g.162282469T= | CA1303149334 | IFIH1 | c.*800A= (n.*800A=) c.1203A= (p.Pro401=) n.813A= c.891A= (p.Pro297=) c.486A= (p.Pro162=) | |
2 | g.162282470G>A | CA349002860 | IFIH1 | c.*799C>T (n.*799C>T) c.1202C>T (p.Pro401Leu) n.812C>T c.890C>T (p.Pro297Leu) c.485C>T (p.Pro162Leu) | dbSNP |
2 | g.162282470G>C | CA349002861 | IFIH1 | c.*799C>G (n.*799C>G) c.1202C>G (p.Pro401Arg) n.812C>G c.890C>G (p.Pro297Arg) c.485C>G (p.Pro162Arg) | |
2 | g.162282470G>T | CA349002862 | IFIH1 | c.*799C>A (n.*799C>A) c.1202C>A (p.Pro401Gln) n.812C>A c.890C>A (p.Pro297Gln) c.485C>A (p.Pro162Gln) | |
2 | g.162282470_162282471insAA | CA2752938483 | IFIH1 | c.*798_*799insTT (n.*798_*799insTT) c.1201_1202insTT (p.Pro401LeufsTer23) n.811_812insTT c.889_890insTT (p.Pro297LeufsTer23) c.484_485insTT (p.Pro162LeufsTer23) | |
2 | g.162282471G>A | CA349002863 | IFIH1 | c.*798C>T (n.*798C>T) c.1201C>T (p.Pro401Ser) n.811C>T c.889C>T (p.Pro297Ser) c.484C>T (p.Pro162Ser) | gnomAD v4 |
2 | g.162282471G>C | CA349002864 | IFIH1 | c.*798C>G (n.*798C>G) c.1201C>G (p.Pro401Ala) n.811C>G c.889C>G (p.Pro297Ala) c.484C>G (p.Pro162Ala) | |
2 | g.162282471G>T | CA349002865 | IFIH1 | c.*798C>A (n.*798C>A) c.1201C>A (p.Pro401Thr) n.811C>A c.889C>A (p.Pro297Thr) c.484C>A (p.Pro162Thr) | |
2 | g.162282472A= | CA1303149335 | IFIH1 | c.*797T= (n.*797T=) c.1200T= (p.Phe400=) n.810T= c.888T= (p.Phe296=) c.483T= (p.Phe161=) | |
2 | g.162282472A>C | CA349002866 | IFIH1 | c.*797T>G (n.*797T>G) c.1200T>G (p.Phe400Leu) n.810T>G c.888T>G (p.Phe296Leu) c.483T>G (p.Phe161Leu) | |
2 | g.162282472A>G | CA429536067 | IFIH1 | c.*797T>C (n.*797T>C) c.1200T>C (p.Phe400=) n.810T>C c.888T>C (p.Phe296=) c.483T>C (p.Phe161=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.162282472A>T | CA349002867 | IFIH1 | c.*797T>A (n.*797T>A) c.1200T>A (p.Phe400Leu) n.810T>A c.888T>A (p.Phe296Leu) c.483T>A (p.Phe161Leu) | ClinVar |
2 | g.162282473A>C | CA349002868 | IFIH1 | c.*796T>G (n.*796T>G) c.1199T>G (p.Phe400Cys) n.809T>G c.887T>G (p.Phe296Cys) c.482T>G (p.Phe161Cys) | |
2 | g.162282473A>G | CA349002869 | IFIH1 | c.*796T>C (n.*796T>C) c.1199T>C (p.Phe400Ser) n.809T>C c.887T>C (p.Phe296Ser) c.482T>C (p.Phe161Ser) | |
2 | g.162282473A>T | CA349002870 | IFIH1 | c.*796T>A (n.*796T>A) c.1199T>A (p.Phe400Tyr) n.809T>A c.887T>A (p.Phe296Tyr) c.482T>A (p.Phe161Tyr) | |
2 | g.162282474A>C | CA349002872 | IFIH1 | c.*795T>G (n.*795T>G) c.1198T>G (p.Phe400Val) n.808T>G c.886T>G (p.Phe296Val) c.481T>G (p.Phe161Val) | |
2 | g.162282474A>G | CA349002873 | IFIH1 | c.*795T>C (n.*795T>C) c.1198T>C (p.Phe400Leu) n.808T>C c.886T>C (p.Phe296Leu) c.481T>C (p.Phe161Leu) | |
2 | g.162282474A>T | CA349002871 | IFIH1 | c.*795T>A (n.*795T>A) c.1198T>A (p.Phe400Ile) n.808T>A c.886T>A (p.Phe296Ile) c.481T>A (p.Phe161Ile) | |
2 | g.162282475T>A | CA429536072 | IFIH1 | c.*794A>T (n.*794A>T) c.1197A>T (p.Ser399=) n.807A>T c.885A>T (p.Ser295=) c.480A>T (p.Ser160=) | |
2 | g.162282475T>C | CA429536070 | IFIH1 | c.*794A>G (n.*794A>G) c.1197A>G (p.Ser399=) n.807A>G c.885A>G (p.Ser295=) c.480A>G (p.Ser160=) | dbSNP |
2 | g.162282475T>G | CA429536071 | IFIH1 | c.*794A>C (n.*794A>C) c.1197A>C (p.Ser399=) n.807A>C c.885A>C (p.Ser295=) c.480A>C (p.Ser160=) | |
2 | g.162282475T= | CA1303149336 | IFIH1 | c.*794A= (n.*794A=) c.1197A= (p.Ser399=) n.807A= c.885A= (p.Ser295=) c.480A= (p.Ser160=) | |
2 | g.162282476G>A | CA349002874 | IFIH1 | c.*793C>T (n.*793C>T) c.1196C>T (p.Ser399Leu) n.806C>T c.884C>T (p.Ser295Leu) c.479C>T (p.Ser160Leu) | |
2 | g.162282476G>C | CA349002875 | IFIH1 | c.*793C>G (n.*793C>G) c.1196C>G (p.Ser399Ter) n.806C>G c.884C>G (p.Ser295Ter) c.479C>G (p.Ser160Ter) | ClinVar dbSNP gnomAD v4 |
2 | g.162282476G= | CA1303149337 | IFIH1 | c.*793C= (n.*793C=) c.1196C= (p.Ser399=) n.806C= c.884C= (p.Ser295=) c.479C= (p.Ser160=) | |
2 | g.162282476G>T | CA1934594 | IFIH1 | c.*793C>A (n.*793C>A) c.1196C>A (p.Ser399Ter) n.806C>A c.884C>A (p.Ser295Ter) c.479C>A (p.Ser160Ter) | dbSNP ExAC gnomAD v2 |
2 | g.162282477A= | CA1303149338 | IFIH1 | c.*792T= (n.*792T=) c.1195T= (p.Ser399=) n.805T= c.883T= (p.Ser295=) c.478T= (p.Ser160=) | |
2 | g.162282477A>C | CA349002876 | IFIH1 | c.*792T>G (n.*792T>G) c.1195T>G (p.Ser399Ala) n.805T>G c.883T>G (p.Ser295Ala) c.478T>G (p.Ser160Ala) | |
2 | g.162282477A>G | CA349002877 | IFIH1 | c.*792T>C (n.*792T>C) c.1195T>C (p.Ser399Pro) n.805T>C c.883T>C (p.Ser295Pro) c.478T>C (p.Ser160Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.162282477A>T | CA349002878 | IFIH1 | c.*792T>A (n.*792T>A) c.1195T>A (p.Ser399Thr) n.805T>A c.883T>A (p.Ser295Thr) c.478T>A (p.Ser160Thr) | |
2 | g.162282478T>A | CA429536078 | IFIH1 | c.*791A>T (n.*791A>T) c.1194A>T (p.Ile398=) n.804A>T c.882A>T (p.Ile294=) c.477A>T (p.Ile159=) | |
2 | g.162282478T>C | CA349002879 | IFIH1 | c.*791A>G (n.*791A>G) c.1194A>G (p.Ile398Met) n.804A>G c.882A>G (p.Ile294Met) c.477A>G (p.Ile159Met) | ClinVar |
2 | g.162282478T>G | CA429536079 | IFIH1 | c.*791A>C (n.*791A>C) c.1194A>C (p.Ile398=) n.804A>C c.882A>C (p.Ile294=) c.477A>C (p.Ile159=) | |
2 | g.162282479A>C | CA349002880 | IFIH1 | c.*790T>G (n.*790T>G) c.1193T>G (p.Ile398Arg) n.803T>G c.881T>G (p.Ile294Arg) c.476T>G (p.Ile159Arg) | |
2 | g.162282479A>G | CA349002881 | IFIH1 | c.*790T>C (n.*790T>C) c.1193T>C (p.Ile398Thr) n.803T>C c.881T>C (p.Ile294Thr) c.476T>C (p.Ile159Thr) | |
2 | g.162282479A>T | CA349002882 | IFIH1 | c.*790T>A (n.*790T>A) c.1193T>A (p.Ile398Lys) n.803T>A c.881T>A (p.Ile294Lys) c.476T>A (p.Ile159Lys) | |
2 | g.162282480T>A | CA349002883 | IFIH1 | c.*789A>T (n.*789A>T) c.1192A>T (p.Ile398Leu) n.802A>T c.880A>T (p.Ile294Leu) c.475A>T (p.Ile159Leu) | dbSNP |
2 | g.162282480T>C | CA349002884 | IFIH1 | c.*789A>G (n.*789A>G) c.1192A>G (p.Ile398Val) n.802A>G c.880A>G (p.Ile294Val) c.475A>G (p.Ile159Val) | gnomAD v4 |
2 | g.162282480T>G | CA349002885 | IFIH1 | c.*789A>C (n.*789A>C) c.1192A>C (p.Ile398Leu) n.802A>C c.880A>C (p.Ile294Leu) c.475A>C (p.Ile159Leu) | |
2 | g.162282480T= | CA1303149339 | IFIH1 | c.*789A= (n.*789A=) c.1192A= (p.Ile398=) n.802A= c.880A= (p.Ile294=) c.475A= (p.Ile159=) | |
2 | g.162282480_162282481insCGTG | CA2752938484 | IFIH1 | c.*788_*789insCACG (n.*788_*789insCACG) c.1191_1192insCACG (p.Ile398HisfsTer12) n.801_802insCACG c.879_880insCACG (p.Ile294HisfsTer12) c.474_475insCACG (p.Ile159HisfsTer12) | |
2 | g.162282481T>A | CA349002887 | IFIH1 | c.*788A>T (n.*788A>T) c.1191A>T (p.Lys397Asn) n.801A>T c.879A>T (p.Lys293Asn) c.474A>T (p.Lys158Asn) | |
2 | g.162282481T>C | CA429536086 | IFIH1 | c.*788A>G (n.*788A>G) c.1191A>G (p.Lys397=) n.801A>G c.879A>G (p.Lys293=) c.474A>G (p.Lys158=) | ClinVar dbSNP gnomAD v4 |
2 | g.162282481T>G | CA349002886 | IFIH1 | c.*788A>C (n.*788A>C) c.1191A>C (p.Lys397Asn) n.801A>C c.879A>C (p.Lys293Asn) c.474A>C (p.Lys158Asn) | |
2 | g.162282481T= | CA1303149340 | IFIH1 | c.*788A= (n.*788A=) c.1191A= (p.Lys397=) n.801A= c.879A= (p.Lys293=) c.474A= (p.Lys158=) | |
2 | g.162282482T>A | CA349002888 | IFIH1 | c.*787A>T (n.*787A>T) c.1190A>T (p.Lys397Ile) n.800A>T c.878A>T (p.Lys293Ile) c.473A>T (p.Lys158Ile) | |
2 | g.162282482T>C | CA349002889 | IFIH1 | c.*787A>G (n.*787A>G) c.1190A>G (p.Lys397Arg) n.800A>G c.878A>G (p.Lys293Arg) c.473A>G (p.Lys158Arg) | |
2 | g.162282482T>G | CA349002890 | IFIH1 | c.*787A>C (n.*787A>C) c.1190A>C (p.Lys397Thr) n.800A>C c.878A>C (p.Lys293Thr) c.473A>C (p.Lys158Thr) | |
2 | g.162282483T>A | CA349002891 | IFIH1 | c.*786A>T (n.*786A>T) c.1189A>T (p.Lys397Ter) n.799A>T c.877A>T (p.Lys293Ter) c.472A>T (p.Lys158Ter) | |
2 | g.162282483T>C | CA349002892 | IFIH1 | c.*786A>G (n.*786A>G) c.1189A>G (p.Lys397Glu) n.799A>G c.877A>G (p.Lys293Glu) c.472A>G (p.Lys158Glu) | |
2 | g.162282483T>G | CA349002893 | IFIH1 | c.*786A>C (n.*786A>C) c.1189A>C (p.Lys397Gln) n.799A>C c.877A>C (p.Lys293Gln) c.472A>C (p.Lys158Gln) | |
2 | g.162282483_162282484del | CA2752938763 | IFIH1 | c.*785_*786del (n.*785_*786del) c.1188_1189del (p.Lys397AsnfsTer11) n.798_799del c.876_877del (p.Lys293AsnfsTer11) c.471_472del (p.Lys158AsnfsTer11) | |
2 | g.162282484C>A | CA429536093 | IFIH1 | c.*785G>T (n.*785G>T) c.1188G>T (p.Leu396=) n.798G>T c.876G>T (p.Leu292=) c.471G>T (p.Leu157=) | |
2 | g.162282484C>G | CA429536095 | IFIH1 | c.*785G>C (n.*785G>C) c.1188G>C (p.Leu396=) n.798G>C c.876G>C (p.Leu292=) c.471G>C (p.Leu157=) | gnomAD v4 |
2 | g.162282484C>T | CA429536096 | IFIH1 | c.*785G>A (n.*785G>A) c.1188G>A (p.Leu396=) n.798G>A c.876G>A (p.Leu292=) c.471G>A (p.Leu157=) | |
2 | g.162282485A>C | CA349002894 | IFIH1 | c.*784T>G (n.*784T>G) c.1187T>G (p.Leu396Arg) n.797T>G c.875T>G (p.Leu292Arg) c.470T>G (p.Leu157Arg) | |
2 | g.162282485A>G | CA349002895 | IFIH1 | c.*784T>C (n.*784T>C) c.1187T>C (p.Leu396Pro) n.797T>C c.875T>C (p.Leu292Pro) c.470T>C (p.Leu157Pro) | |
2 | g.162282485A>T | CA349002896 | IFIH1 | c.*784T>A (n.*784T>A) c.1187T>A (p.Leu396Gln) n.797T>A c.875T>A (p.Leu292Gln) c.470T>A (p.Leu157Gln) | |
2 | g.162282486del | CA2752938764 | IFIH1 | c.*783del (n.*783del) c.1186del (p.Leu396Ter) n.796del c.874del (p.Leu292Ter) c.469del (p.Leu157Ter) | |
2 | g.162282486G>A | CA429536102 | IFIH1 | c.*783C>T (n.*783C>T) c.1186C>T (p.Leu396=) n.796C>T c.874C>T (p.Leu292=) c.469C>T (p.Leu157=) | |
2 | g.162282486G>C | CA349002897 | IFIH1 | c.*783C>G (n.*783C>G) c.1186C>G (p.Leu396Val) n.796C>G c.874C>G (p.Leu292Val) c.469C>G (p.Leu157Val) | |
2 | g.162282486G>T | CA349002898 | IFIH1 | c.*783C>A (n.*783C>A) c.1186C>A (p.Leu396Met) n.796C>A c.874C>A (p.Leu292Met) c.469C>A (p.Leu157Met) | |
2 | g.162282487T>A | CA349002899 | IFIH1 | c.*782A>T (n.*782A>T) c.1185A>T (p.Gln395His) n.795A>T c.873A>T (p.Gln291His) c.468A>T (p.Gln156His) | |
2 | g.162282487T>C | CA429536103 | IFIH1 | c.*782A>G (n.*782A>G) c.1185A>G (p.Gln395=) n.795A>G c.873A>G (p.Gln291=) c.468A>G (p.Gln156=) | dbSNP gnomAD v4 |
2 | g.162282487T>G | CA349002900 | IFIH1 | c.*782A>C (n.*782A>C) c.1185A>C (p.Gln395His) n.795A>C c.873A>C (p.Gln291His) c.468A>C (p.Gln156His) | |
2 | g.162282488T>A | CA349002902 | IFIH1 | c.*781A>T (n.*781A>T) c.1184A>T (p.Gln395Leu) n.794A>T c.872A>T (p.Gln291Leu) c.467A>T (p.Gln156Leu) | |
2 | g.162282488T>C | CA349002903 | IFIH1 | c.*781A>G (n.*781A>G) c.1184A>G (p.Gln395Arg) n.794A>G c.872A>G (p.Gln291Arg) c.467A>G (p.Gln156Arg) | |
2 | g.162282488T>G | CA349002901 | IFIH1 | c.*781A>C (n.*781A>C) c.1184A>C (p.Gln395Pro) n.794A>C c.872A>C (p.Gln291Pro) c.467A>C (p.Gln156Pro) | |
2 | g.162282489G>A | CA349002905 | IFIH1 | c.*780C>T (n.*780C>T) c.1183C>T (p.Gln395Ter) n.793C>T c.871C>T (p.Gln291Ter) c.466C>T (p.Gln156Ter) | dbSNP |
2 | g.162282489G>C | CA349002904 | IFIH1 | c.*780C>G (n.*780C>G) c.1183C>G (p.Gln395Glu) n.793C>G c.871C>G (p.Gln291Glu) c.466C>G (p.Gln156Glu) | |
2 | g.162282489G= | CA1303149341 | IFIH1 | c.*780C= (n.*780C=) c.1183C= (p.Gln395=) n.793C= c.871C= (p.Gln291=) c.466C= (p.Gln156=) | |
2 | g.162282489G>T | CA349002906 | IFIH1 | c.*780C>A (n.*780C>A) c.1183C>A (p.Gln395Lys) n.793C>A c.871C>A (p.Gln291Lys) c.466C>A (p.Gln156Lys) | |
2 | g.162282490G>A | CA429536107 | IFIH1 | c.*779C>T (n.*779C>T) c.1182C>T (p.Thr394=) n.792C>T c.870C>T (p.Thr290=) c.465C>T (p.Thr155=) | |
2 | g.162282490G>C | CA429536109 | IFIH1 | c.*779C>G (n.*779C>G) c.1182C>G (p.Thr394=) n.792C>G c.870C>G (p.Thr290=) c.465C>G (p.Thr155=) | |
2 | g.162282490G>T | CA429536110 | IFIH1 | c.*779C>A (n.*779C>A) c.1182C>A (p.Thr394=) n.792C>A c.870C>A (p.Thr290=) c.465C>A (p.Thr155=) | gnomAD v3 gnomAD v4 |
2 | g.162282491G>A | CA349002907 | IFIH1 | c.*778C>T (n.*778C>T) c.1181C>T (p.Thr394Ile) n.791C>T c.869C>T (p.Thr290Ile) c.464C>T (p.Thr155Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.162282491G>C | CA349002908 | IFIH1 | c.*778C>G (n.*778C>G) c.1181C>G (p.Thr394Ser) n.791C>G c.869C>G (p.Thr290Ser) c.464C>G (p.Thr155Ser) | |
2 | g.162282491G= | CA1303149342 | IFIH1 | c.*778C= (n.*778C=) c.1181C= (p.Thr394=) n.791C= c.869C= (p.Thr290=) c.464C= (p.Thr155=) | |
2 | g.162282491G>T | CA349002909 | IFIH1 | c.*778C>A (n.*778C>A) c.1181C>A (p.Thr394Asn) n.791C>A c.869C>A (p.Thr290Asn) c.464C>A (p.Thr155Asn) | ClinVar dbSNP gnomAD v4 |
2 | g.162282491_162282492del | CA2752938765 | IFIH1 | c.*777_*778del (n.*777_*778del) c.1180_1181del (p.Thr394ProfsTer14) n.790_791del c.868_869del (p.Thr290ProfsTer14) c.463_464del (p.Thr155ProfsTer14) | |
2 | g.162282492T>A | CA349002910 | IFIH1 | c.*777A>T (n.*777A>T) c.1180A>T (p.Thr394Ser) n.790A>T c.868A>T (p.Thr290Ser) c.463A>T (p.Thr155Ser) | |
2 | g.162282492T>C | CA349002911 | IFIH1 | c.*777A>G (n.*777A>G) c.1180A>G (p.Thr394Ala) n.790A>G c.868A>G (p.Thr290Ala) c.463A>G (p.Thr155Ala) | |
2 | g.162282492T>G | CA349002912 | IFIH1 | c.*777A>C (n.*777A>C) c.1180A>C (p.Thr394Pro) n.790A>C c.868A>C (p.Thr290Pro) c.463A>C (p.Thr155Pro) | |
2 | g.162282493A>C | CA349002913 | IFIH1 | c.*776T>G (n.*776T>G) c.1179T>G (p.Asp393Glu) n.789T>G c.867T>G (p.Asp289Glu) c.462T>G (p.Asp154Glu) | |
2 | g.162282493A>G | CA429536112 | IFIH1 | c.*776T>C (n.*776T>C) c.1179T>C (p.Asp393=) n.789T>C c.867T>C (p.Asp289=) c.462T>C (p.Asp154=) | gnomAD v4 |
2 | g.162282493A>T | CA349002914 | IFIH1 | c.*776T>A (n.*776T>A) c.1179T>A (p.Asp393Glu) n.789T>A c.867T>A (p.Asp289Glu) c.462T>A (p.Asp154Glu) | |
2 | g.162282494T>A | CA163194 | IFIH1 | c.*775A>T (n.*775A>T) c.1178A>T (p.Asp393Val) n.788A>T c.866A>T (p.Asp289Val) c.461A>T (p.Asp154Val) | ClinVar dbSNP |
2 | g.162282494T>C | CA1934595 | IFIH1 | c.*775A>G (n.*775A>G) c.1178A>G (p.Asp393Gly) n.788A>G c.866A>G (p.Asp289Gly) c.461A>G (p.Asp154Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.162282494T>G | CA349002915 | IFIH1 | c.*775A>C (n.*775A>C) c.1178A>C (p.Asp393Ala) n.788A>C c.866A>C (p.Asp289Ala) c.461A>C (p.Asp154Ala) | ClinVar dbSNP |
2 | g.162282494T= | CA1303149343 | IFIH1 | c.*775A= (n.*775A=) c.1178A= (p.Asp393=) n.788A= c.866A= (p.Asp289=) c.461A= (p.Asp154=) | |
2 | g.162282495_162282501del | CA2752938766 | IFIH1 | c.*769_*775del (n.*769_*775del) c.1172_1178del (p.Ser391IlefsTer4) n.782_788del c.860_866del (p.Ser287IlefsTer4) c.455_461del (p.Ser152IlefsTer4) | |
2 | g.162282495C>A | CA349002916 | IFIH1 | c.*774G>T (n.*774G>T) c.1177G>T (p.Asp393Tyr) n.787G>T c.865G>T (p.Asp289Tyr) c.460G>T (p.Asp154Tyr) | |
2 | g.162282495C>G | CA349002917 | IFIH1 | c.*774G>C (n.*774G>C) c.1177G>C (p.Asp393His) n.787G>C c.865G>C (p.Asp289His) c.460G>C (p.Asp154His) | |
2 | g.162282495C>T | CA349002918 | IFIH1 | c.*774G>A (n.*774G>A) c.1177G>A (p.Asp393Asn) n.787G>A c.865G>A (p.Asp289Asn) c.460G>A (p.Asp154Asn) | |
2 | g.162282496A>C | CA429536116 | IFIH1 | c.*773T>G (n.*773T>G) c.1176T>G (p.Gly392=) n.786T>G c.864T>G (p.Gly288=) c.459T>G (p.Gly153=) | |
2 | g.162282496A>G | CA429536115 | IFIH1 | c.*773T>C (n.*773T>C) c.1176T>C (p.Gly392=) n.786T>C c.864T>C (p.Gly288=) c.459T>C (p.Gly153=) | |
2 | g.162282496A>T | CA429536114 | IFIH1 | c.*773T>A (n.*773T>A) c.1176T>A (p.Gly392=) n.786T>A c.864T>A (p.Gly288=) c.459T>A (p.Gly153=) | |
2 | g.162282497C>A | CA349002921 | IFIH1 | c.*772G>T (n.*772G>T) c.1175G>T (p.Gly392Val) n.785G>T c.863G>T (p.Gly288Val) c.458G>T (p.Gly153Val) | |
2 | g.162282497C= | CA1303149344 | IFIH1 | c.*772G= (n.*772G=) c.1175G= (p.Gly392=) n.785G= c.863G= (p.Gly288=) c.458G= (p.Gly153=) | |
2 | g.162282497C>G | CA349002920 | IFIH1 | c.*772G>C (n.*772G>C) c.1175G>C (p.Gly392Ala) n.785G>C c.863G>C (p.Gly288Ala) c.458G>C (p.Gly153Ala) | |
2 | g.162282497C>T | CA349002919 | IFIH1 | c.*772G>A (n.*772G>A) c.1175G>A (p.Gly392Asp) n.785G>A c.863G>A (p.Gly288Asp) c.458G>A (p.Gly153Asp) | ClinVar dbSNP gnomAD v2 |
2 | g.162282498C>A | CA349002922 | IFIH1 | c.*771G>T (n.*771G>T) c.1174G>T (p.Gly392Cys) n.784G>T c.862G>T (p.Gly288Cys) c.457G>T (p.Gly153Cys) | |
2 | g.162282498C>G | CA349002923 | IFIH1 | c.*771G>C (n.*771G>C) c.1174G>C (p.Gly392Arg) n.784G>C c.862G>C (p.Gly288Arg) c.457G>C (p.Gly153Arg) | |
2 | g.162282498C>T | CA349002924 | IFIH1 | c.*771G>A (n.*771G>A) c.1174G>A (p.Gly392Ser) n.784G>A c.862G>A (p.Gly288Ser) c.457G>A (p.Gly153Ser) | |
2 | g.162282499A= | CA1303149345 | IFIH1 | c.*770T= (n.*770T=) c.1173T= (p.Ser391=) n.783T= c.861T= (p.Ser287=) c.456T= (p.Ser152=) | |
2 | g.162282499A>C | CA349002925 | IFIH1 | c.*770T>G (n.*770T>G) c.1173T>G (p.Ser391Arg) n.783T>G c.861T>G (p.Ser287Arg) c.456T>G (p.Ser152Arg) | |
2 | g.162282499A>G | CA59665927 | IFIH1 | c.*770T>C (n.*770T>C) c.1173T>C (p.Ser391=) n.783T>C c.861T>C (p.Ser287=) c.456T>C (p.Ser152=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.162282499A>T | CA349002926 | IFIH1 | c.*770T>A (n.*770T>A) c.1173T>A (p.Ser391Arg) n.783T>A c.861T>A (p.Ser287Arg) c.456T>A (p.Ser152Arg) | gnomAD v4 |
2 | g.162282500C>A | CA349002927 | IFIH1 | c.*769G>T (n.*769G>T) c.1172G>T (p.Ser391Ile) n.782G>T c.860G>T (p.Ser287Ile) c.455G>T (p.Ser152Ile) | |
2 | g.162282500C= | CA1303149346 | IFIH1 | c.*769G= (n.*769G=) c.1172G= (p.Ser391=) n.782G= c.860G= (p.Ser287=) c.455G= (p.Ser152=) | |
2 | g.162282500C>G | CA349002928 | IFIH1 | c.*769G>C (n.*769G>C) c.1172G>C (p.Ser391Thr) n.782G>C c.860G>C (p.Ser287Thr) c.455G>C (p.Ser152Thr) | |
2 | g.162282500C>T | CA349002929 | IFIH1 | c.*769G>A (n.*769G>A) c.1172G>A (p.Ser391Asn) n.782G>A c.860G>A (p.Ser287Asn) c.455G>A (p.Ser152Asn) | gnomAD v4 |
2 | g.162282500_162282501insG | CA1934596 | IFIH1 | c.*768_*769insC (n.*768_*769insC) c.1171_1172insC (p.Ser391ThrfsTer3) n.781_782insC c.859_860insC (p.Ser287ThrfsTer3) c.454_455insC (p.Ser152ThrfsTer3) | dbSNP ExAC gnomAD v2 |
2 | g.162282501T>A | CA349002930 | IFIH1 | c.*768A>T (n.*768A>T) c.1171A>T (p.Ser391Cys) n.781A>T c.859A>T (p.Ser287Cys) c.454A>T (p.Ser152Cys) | |
2 | g.162282501T>C | CA349002931 | IFIH1 | c.*768A>G (n.*768A>G) c.1171A>G (p.Ser391Gly) n.781A>G c.859A>G (p.Ser287Gly) c.454A>G (p.Ser152Gly) | gnomAD v4 |
2 | g.162282501T>G | CA349002932 | IFIH1 | c.*768A>C (n.*768A>C) c.1171A>C (p.Ser391Arg) n.781A>C c.859A>C (p.Ser287Arg) c.454A>C (p.Ser152Arg) | |
2 | g.162282502T>A | CA349002933 | IFIH1 | c.*767A>T (n.*767A>T) c.1170A>T (p.Leu390Phe) n.780A>T c.858A>T (p.Leu286Phe) c.453A>T (p.Leu151Phe) | |
2 | g.162282502T>C | CA429536123 | IFIH1 | c.*767A>G (n.*767A>G) c.1170A>G (p.Leu390=) n.780A>G c.858A>G (p.Leu286=) c.453A>G (p.Leu151=) | |
2 | g.162282502T>G | CA349002934 | IFIH1 | c.*767A>C (n.*767A>C) c.1170A>C (p.Leu390Phe) n.780A>C c.858A>C (p.Leu286Phe) c.453A>C (p.Leu151Phe) | |
2 | g.162282503A>C | CA349002937 | IFIH1 | c.*766T>G (n.*766T>G) c.1169T>G (p.Leu390Ter) n.779T>G c.857T>G (p.Leu286Ter) c.452T>G (p.Leu151Ter) | ClinVar dbSNP |
2 | g.162282503A>G | CA349002936 | IFIH1 | c.*766T>C (n.*766T>C) c.1169T>C (p.Leu390Ser) n.779T>C c.857T>C (p.Leu286Ser) c.452T>C (p.Leu151Ser) | gnomAD v4 |
2 | g.162282503A>T | CA349002935 | IFIH1 | c.*766T>A (n.*766T>A) c.1169T>A (p.Leu390Ter) n.779T>A c.857T>A (p.Leu286Ter) c.452T>A (p.Leu151Ter) | |
2 | g.162282504A>C | CA349002938 | IFIH1 | c.*765T>G (n.*765T>G) c.1168T>G (p.Leu390Val) n.778T>G c.856T>G (p.Leu286Val) c.451T>G (p.Leu151Val) | |
2 | g.162282504A>G | CA429536125 | IFIH1 | c.*765T>C (n.*765T>C) c.1168T>C (p.Leu390=) n.778T>C c.856T>C (p.Leu286=) c.451T>C (p.Leu151=) | |
2 | g.162282504A>T | CA349002939 | IFIH1 | c.*765T>A (n.*765T>A) c.1168T>A (p.Leu390Ile) n.778T>A c.856T>A (p.Leu286Ile) c.451T>A (p.Leu151Ile) | |
2 | g.162282505T>A | CA429536126 | IFIH1 | c.*764A>T (n.*764A>T) c.1167A>T (p.Gly389=) n.777A>T c.855A>T (p.Gly285=) c.450A>T (p.Gly150=) | |
2 | g.162282505T>C | CA429536127 | IFIH1 | c.*764A>G (n.*764A>G) c.1167A>G (p.Gly389=) n.777A>G c.855A>G (p.Gly285=) c.450A>G (p.Gly150=) | |
2 | g.162282505T>G | CA429536128 | IFIH1 | c.*764A>C (n.*764A>C) c.1167A>C (p.Gly389=) n.777A>C c.855A>C (p.Gly285=) c.450A>C (p.Gly150=) | |
2 | g.162282506C>A | CA349002940 | IFIH1 | c.*763G>T (n.*763G>T) c.1166G>T (p.Gly389Val) n.776G>T c.854G>T (p.Gly285Val) c.449G>T (p.Gly150Val) | |
2 | g.162282506C= | CA1303149347 | IFIH1 | c.*763G= (n.*763G=) c.1166G= (p.Gly389=) n.776G= c.854G= (p.Gly285=) c.449G= (p.Gly150=) | |
2 | g.162282506C>G | CA349002941 | IFIH1 | c.*763G>C (n.*763G>C) c.1166G>C (p.Gly389Ala) n.776G>C c.854G>C (p.Gly285Ala) c.449G>C (p.Gly150Ala) | |
2 | g.162282506C>T | CA1934597 | IFIH1 | c.*763G>A (n.*763G>A) c.1166G>A (p.Gly389Glu) n.776G>A c.854G>A (p.Gly285Glu) c.449G>A (p.Gly150Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.162282507C>A | CA349002942 | IFIH1 | c.*762G>T (n.*762G>T) c.1165G>T (p.Gly389Ter) n.775G>T c.853G>T (p.Gly285Ter) c.448G>T (p.Gly150Ter) | |
2 | g.162282507C= | CA1303149348 | IFIH1 | c.*762G= (n.*762G=) c.1165G= (p.Gly389=) n.775G= c.853G= (p.Gly285=) c.448G= (p.Gly150=) | |
2 | g.162282507C>G | CA349002943 | IFIH1 | c.*762G>C (n.*762G>C) c.1165G>C (p.Gly389Arg) n.775G>C c.853G>C (p.Gly285Arg) c.448G>C (p.Gly150Arg) | |
2 | g.162282507C>T | CA349002944 | IFIH1 | c.*762G>A (n.*762G>A) c.1165G>A (p.Gly389Arg) n.775G>A c.853G>A (p.Gly285Arg) c.448G>A (p.Gly150Arg) | ClinVar dbSNP |
2 | g.162282508A>C | CA349002945 | IFIH1 | c.*761T>G (n.*761T>G) c.1164T>G (p.Ile388Met) n.774T>G c.852T>G (p.Ile284Met) c.447T>G (p.Ile149Met) | |
2 | g.162282508A>G | CA429536129 | IFIH1 | c.*761T>C (n.*761T>C) c.1164T>C (p.Ile388=) n.774T>C c.852T>C (p.Ile284=) c.447T>C (p.Ile149=) | gnomAD v4 |
2 | g.162282508A>T | CA429536130 | IFIH1 | c.*761T>A (n.*761T>A) c.1164T>A (p.Ile388=) n.774T>A c.852T>A (p.Ile284=) c.447T>A (p.Ile149=) | |
2 | g.162282509A>C | CA349002946 | IFIH1 | c.*760T>G (n.*760T>G) c.1163T>G (p.Ile388Ser) n.773T>G c.851T>G (p.Ile284Ser) c.446T>G (p.Ile149Ser) | |
2 | g.162282509A>G | CA349002947 | IFIH1 | c.*760T>C (n.*760T>C) c.1163T>C (p.Ile388Thr) n.773T>C c.851T>C (p.Ile284Thr) c.446T>C (p.Ile149Thr) | gnomAD v4 |
2 | g.162282509A>T | CA349002948 | IFIH1 | c.*760T>A (n.*760T>A) c.1163T>A (p.Ile388Asn) n.773T>A c.851T>A (p.Ile284Asn) c.446T>A (p.Ile149Asn) | |
2 | g.162282510T>A | CA349002949 | IFIH1 | c.*759A>T (n.*759A>T) c.1162A>T (p.Ile388Phe) n.772A>T c.850A>T (p.Ile284Phe) c.445A>T (p.Ile149Phe) | |
2 | g.162282510T>C | CA349002950 | IFIH1 | c.*759A>G (n.*759A>G) c.1162A>G (p.Ile388Val) n.772A>G c.850A>G (p.Ile284Val) c.445A>G (p.Ile149Val) | gnomAD v4 |
2 | g.162282510T>G | CA349002952 | IFIH1 | c.*759A>C (n.*759A>C) c.1162A>C (p.Ile388Leu) n.772A>C c.850A>C (p.Ile284Leu) c.445A>C (p.Ile149Leu) | |
2 | g.162282511A>C | CA429536132 | IFIH1 | c.*758T>G (n.*758T>G) c.1161T>G (p.Val387=) n.771T>G c.849T>G (p.Val283=) c.444T>G (p.Val148=) | |
2 | g.162282511A>G | CA429536133 | IFIH1 | c.*758T>C (n.*758T>C) c.1161T>C (p.Val387=) n.771T>C c.849T>C (p.Val283=) c.444T>C (p.Val148=) | |
2 | g.162282511A>T | CA429536135 | IFIH1 | c.*758T>A (n.*758T>A) c.1161T>A (p.Val387=) n.771T>A c.849T>A (p.Val283=) c.444T>A (p.Val148=) | |
2 | g.162282512A= | CA1303149349 | IFIH1 | c.*757T= (n.*757T=) c.1160T= (p.Val387=) n.770T= c.848T= (p.Val283=) c.443T= (p.Val148=) | |
2 | g.162282512A>C | CA349002955 | IFIH1 | c.*757T>G (n.*757T>G) c.1160T>G (p.Val387Gly) n.770T>G c.848T>G (p.Val283Gly) c.443T>G (p.Val148Gly) | |
2 | g.162282512A>G | CA349002958 | IFIH1 | c.*757T>C (n.*757T>C) c.1160T>C (p.Val387Ala) n.770T>C c.848T>C (p.Val283Ala) c.443T>C (p.Val148Ala) | dbSNP |
2 | g.162282512A>T | CA349002956 | IFIH1 | c.*757T>A (n.*757T>A) c.1160T>A (p.Val387Asp) n.770T>A c.848T>A (p.Val283Asp) c.443T>A (p.Val148Asp) | |
2 | g.162282513C>A | CA349002961 | IFIH1 | c.*756G>T (n.*756G>T) c.1159G>T (p.Val387Phe) n.769G>T c.847G>T (p.Val283Phe) c.442G>T (p.Val148Phe) | ClinVar |
2 | g.162282513C= | CA1303149350 | IFIH1 | c.*756G= (n.*756G=) c.1159G= (p.Val387=) n.769G= c.847G= (p.Val283=) c.442G= (p.Val148=) | |
2 | g.162282513C>G | CA349002964 | IFIH1 | c.*756G>C (n.*756G>C) c.1159G>C (p.Val387Leu) n.769G>C c.847G>C (p.Val283Leu) c.442G>C (p.Val148Leu) | |
2 | g.162282513C>T | CA59665955 | IFIH1 | c.*756G>A (n.*756G>A) c.1159G>A (p.Val387Ile) n.769G>A c.847G>A (p.Val283Ile) c.442G>A (p.Val148Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.162282514A>C | CA429536138 | IFIH1 | c.*755T>G (n.*755T>G) c.1158T>G (p.Arg386=) n.768T>G c.846T>G (p.Arg282=) c.441T>G (p.Arg147=) | |
2 | g.162282514A>G | CA429536139 | IFIH1 | c.*755T>C (n.*755T>C) c.1158T>C (p.Arg386=) n.768T>C c.846T>C (p.Arg282=) c.441T>C (p.Arg147=) | |
2 | g.162282514A>T | CA429536140 | IFIH1 | c.*755T>A (n.*755T>A) c.1158T>A (p.Arg386=) n.768T>A c.846T>A (p.Arg282=) c.441T>A (p.Arg147=) | |
2 | g.162282515C>A | CA349002967 | IFIH1 | c.*754G>T (n.*754G>T) c.1157G>T (p.Arg386Leu) n.767G>T c.845G>T (p.Arg282Leu) c.440G>T (p.Arg147Leu) | ClinVar dbSNP gnomAD v4 |
2 | g.162282515C= | CA1303149351 | IFIH1 | c.*754G= (n.*754G=) c.1157G= (p.Arg386=) n.767G= c.845G= (p.Arg282=) c.440G= (p.Arg147=) | |
2 | g.162282515C>G | CA349002969 | IFIH1 | c.*754G>C (n.*754G>C) c.1157G>C (p.Arg386Pro) n.767G>C c.845G>C (p.Arg282Pro) c.440G>C (p.Arg147Pro) | |
2 | g.162282515C>T | CA1934598 | IFIH1 | c.*754G>A (n.*754G>A) c.1157G>A (p.Arg386His) n.767G>A c.845G>A (p.Arg282His) c.440G>A (p.Arg147His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.162282516G>A | CA349002973 | IFIH1 | c.*753C>T (n.*753C>T) c.1156C>T (p.Arg386Cys) n.766C>T c.844C>T (p.Arg282Cys) c.439C>T (p.Arg147Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.162282516G>C | CA1934599 | IFIH1 | c.*753C>G (n.*753C>G) c.1156C>G (p.Arg386Gly) n.766C>G c.844C>G (p.Arg282Gly) c.439C>G (p.Arg147Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.162282516G= | CA1303149352 | IFIH1 | c.*753C= (n.*753C=) c.1156C= (p.Arg386=) n.766C= c.844C= (p.Arg282=) c.439C= (p.Arg147=) | |
2 | g.162282516G>T | CA349002976 | IFIH1 | c.*753C>A (n.*753C>A) c.1156C>A (p.Arg386Ser) n.766C>A c.844C>A (p.Arg282Ser) c.439C>A (p.Arg147Ser) | gnomAD v4 |
2 | g.162282517A>C | CA349002978 | IFIH1 | c.*752T>G (n.*752T>G) c.1155T>G (p.Tyr385Ter) n.765T>G c.843T>G (p.Tyr281Ter) c.438T>G (p.Tyr146Ter) | |
2 | g.162282517A>G | CA429536141 | IFIH1 | c.*752T>C (n.*752T>C) c.1155T>C (p.Tyr385=) n.765T>C c.843T>C (p.Tyr281=) c.438T>C (p.Tyr146=) | |
2 | g.162282517A>T | CA349002981 | IFIH1 | c.*752T>A (n.*752T>A) c.1155T>A (p.Tyr385Ter) n.765T>A c.843T>A (p.Tyr281Ter) c.438T>A (p.Tyr146Ter) | |
2 | g.162282518T>A | CA349002983 | IFIH1 | c.*751A>T (n.*751A>T) c.1154A>T (p.Tyr385Phe) n.764A>T c.842A>T (p.Tyr281Phe) c.437A>T (p.Tyr146Phe) | gnomAD v4 |
2 | g.162282518T>C | CA349002987 | IFIH1 | c.*751A>G (n.*751A>G) c.1154A>G (p.Tyr385Cys) n.764A>G c.842A>G (p.Tyr281Cys) c.437A>G (p.Tyr146Cys) | gnomAD v4 |
2 | g.162282518T>G | CA349002984 | IFIH1 | c.*751A>C (n.*751A>C) c.1154A>C (p.Tyr385Ser) n.764A>C c.842A>C (p.Tyr281Ser) c.437A>C (p.Tyr146Ser) | |
2 | g.162282519A= | CA1303149353 | IFIH1 | c.*750T= (n.*750T=) c.1153T= (p.Tyr385=) n.763T= c.841T= (p.Tyr281=) c.436T= (p.Tyr146=) | |
2 | g.162282519A>C | CA349002989 | IFIH1 | c.*750T>G (n.*750T>G) c.1153T>G (p.Tyr385Asp) n.763T>G c.841T>G (p.Tyr281Asp) c.436T>G (p.Tyr146Asp) | |
2 | g.162282519A>G | CA349002990 | IFIH1 | c.*750T>C (n.*750T>C) c.1153T>C (p.Tyr385His) n.763T>C c.841T>C (p.Tyr281His) c.436T>C (p.Tyr146His) | ClinVar dbSNP gnomAD v4 |
2 | g.162282519A>T | CA349002992 | IFIH1 | c.*750T>A (n.*750T>A) c.1153T>A (p.Tyr385Asn) n.763T>A c.841T>A (p.Tyr281Asn) c.436T>A (p.Tyr146Asn) | |
2 | g.162282520C>A | CA349002994 | IFIH1 | c.*749G>T (n.*749G>T) c.1152G>T (p.Trp384Cys) n.762G>T c.840G>T (p.Trp280Cys) c.435G>T (p.Trp145Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.162282520C= | CA1303149354 | IFIH1 | c.*749G= (n.*749G=) c.1152G= (p.Trp384=) n.762G= c.840G= (p.Trp280=) c.435G= (p.Trp145=) | |
2 | g.162282520C>G | CA349002996 | IFIH1 | c.*749G>C (n.*749G>C) c.1152G>C (p.Trp384Cys) n.762G>C c.840G>C (p.Trp280Cys) c.435G>C (p.Trp145Cys) | |
2 | g.162282520C>T | CA1934600 | IFIH1 | c.*749G>A (n.*749G>A) c.1152G>A (p.Trp384Ter) n.762G>A c.840G>A (p.Trp280Ter) c.435G>A (p.Trp145Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.162282521C>A | CA1934601 | IFIH1 | c.*748G>T (n.*748G>T) c.1151G>T (p.Trp384Leu) n.761G>T c.839G>T (p.Trp280Leu) c.434G>T (p.Trp145Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.162282521C= | CA1303149355 | IFIH1 | c.*748G= (n.*748G=) c.1151G= (p.Trp384=) n.761G= c.839G= (p.Trp280=) c.434G= (p.Trp145=) | |
2 | g.162282521C>G | CA349003000 | IFIH1 | c.*748G>C (n.*748G>C) c.1151G>C (p.Trp384Ser) n.761G>C c.839G>C (p.Trp280Ser) c.434G>C (p.Trp145Ser) | ClinVar dbSNP |
2 | g.162282521C>T | CA349003002 | IFIH1 | c.*748G>A (n.*748G>A) c.1151G>A (p.Trp384Ter) n.761G>A c.839G>A (p.Trp280Ter) c.434G>A (p.Trp145Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.162282522A= | CA1303149356 | IFIH1 | c.*747T= (n.*747T=) c.1150T= (p.Trp384=) n.760T= c.838T= (p.Trp280=) c.433T= (p.Trp145=) | |
2 | g.162282522A>C | CA349003005 | IFIH1 | c.*747T>G (n.*747T>G) c.1150T>G (p.Trp384Gly) n.760T>G c.838T>G (p.Trp280Gly) c.433T>G (p.Trp145Gly) | |
2 | g.162282522A>G | CA1934602 | IFIH1 | c.*747T>C (n.*747T>C) c.1150T>C (p.Trp384Arg) n.760T>C c.838T>C (p.Trp280Arg) c.433T>C (p.Trp145Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.162282522A>T | CA349003008 | IFIH1 | c.*747T>A (n.*747T>A) c.1150T>A (p.Trp384Arg) n.760T>A c.838T>A (p.Trp280Arg) c.433T>A (p.Trp145Arg) | |
2 | g.162282523T>A | CA349003011 | IFIH1 | c.*746A>T (n.*746A>T) c.1149A>T (p.Lys383Asn) n.759A>T c.837A>T (p.Lys279Asn) c.432A>T (p.Lys144Asn) | gnomAD v4 |
2 | g.162282523T>C | CA429536142 | IFIH1 | c.*746A>G (n.*746A>G) c.1149A>G (p.Lys383=) n.759A>G c.837A>G (p.Lys279=) c.432A>G (p.Lys144=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.162282523T>G | CA349003013 | IFIH1 | c.*746A>C (n.*746A>C) c.1149A>C (p.Lys383Asn) n.759A>C c.837A>C (p.Lys279Asn) c.432A>C (p.Lys144Asn) | |
2 | g.162282523T= | CA1303149357 | IFIH1 | c.*746A= (n.*746A=) c.1149A= (p.Lys383=) n.759A= c.837A= (p.Lys279=) c.432A= (p.Lys144=) | |
2 | g.162282524T>A | CA349003019 | IFIH1 | c.*745A>T (n.*745A>T) c.1148A>T (p.Lys383Ile) n.758A>T c.836A>T (p.Lys279Ile) c.431A>T (p.Lys144Ile) | |
2 | g.162282524T>C | CA349003016 | IFIH1 | c.*745A>G (n.*745A>G) c.1148A>G (p.Lys383Arg) n.758A>G c.836A>G (p.Lys279Arg) c.431A>G (p.Lys144Arg) | |
2 | g.162282524T>G | CA349003018 | IFIH1 | c.*745A>C (n.*745A>C) c.1148A>C (p.Lys383Thr) n.758A>C c.836A>C (p.Lys279Thr) c.431A>C (p.Lys144Thr) | dbSNP |
2 | g.162282524T= | CA1303149358 | IFIH1 | c.*745A= (n.*745A=) c.1148A= (p.Lys383=) n.758A= c.836A= (p.Lys279=) c.431A= (p.Lys144=) | |
2 | g.162282525T>A | CA349003022 | IFIH1 | c.*744A>T (n.*744A>T) c.1147A>T (p.Lys383Ter) n.757A>T c.835A>T (p.Lys279Ter) c.430A>T (p.Lys144Ter) | |
2 | g.162282525T>C | CA349003023 | IFIH1 | c.*744A>G (n.*744A>G) c.1147A>G (p.Lys383Glu) n.757A>G c.835A>G (p.Lys279Glu) c.430A>G (p.Lys144Glu) | |
2 | g.162282525T>G | CA349003026 | IFIH1 | c.*744A>C (n.*744A>C) c.1147A>C (p.Lys383Gln) n.757A>C c.835A>C (p.Lys279Gln) c.430A>C (p.Lys144Gln) | |
2 | g.162282526C>A | CA349003027 | IFIH1 | c.*743G>T (n.*743G>T) c.1146G>T (p.Lys382Asn) n.756G>T c.834G>T (p.Lys278Asn) c.429G>T (p.Lys143Asn) | |
2 | g.162282526C>G | CA349003029 | IFIH1 | c.*743G>C (n.*743G>C) c.1146G>C (p.Lys382Asn) n.756G>C c.834G>C (p.Lys278Asn) c.429G>C (p.Lys143Asn) | |
2 | g.162282526C>T | CA429536143 | IFIH1 | c.*743G>A (n.*743G>A) c.1146G>A (p.Lys382=) n.756G>A c.834G>A (p.Lys278=) c.429G>A (p.Lys143=) | |
2 | g.162282527T>A | CA349003032 | IFIH1 | c.*742A>T (n.*742A>T) c.1145A>T (p.Lys382Met) n.755A>T c.833A>T (p.Lys278Met) c.428A>T (p.Lys143Met) | |
2 | g.162282527T>C | CA349003034 | IFIH1 | c.*742A>G (n.*742A>G) c.1145A>G (p.Lys382Arg) n.755A>G c.833A>G (p.Lys278Arg) c.428A>G (p.Lys143Arg) | gnomAD v4 |
2 | g.162282527T>G | CA349003036 | IFIH1 | c.*742A>C (n.*742A>C) c.1145A>C (p.Lys382Thr) n.755A>C c.833A>C (p.Lys278Thr) c.428A>C (p.Lys143Thr) | |
2 | g.162282528T>A | CA349003038 | IFIH1 | c.*741A>T (n.*741A>T) c.1144A>T (p.Lys382Ter) n.754A>T c.832A>T (p.Lys278Ter) c.427A>T (p.Lys143Ter) | |
2 | g.162282528T>C | CA349003041 | IFIH1 | c.*741A>G (n.*741A>G) c.1144A>G (p.Lys382Glu) n.754A>G c.832A>G (p.Lys278Glu) c.427A>G (p.Lys143Glu) | |
2 | g.162282528T>G | CA349003042 | IFIH1 | c.*741A>C (n.*741A>C) c.1144A>C (p.Lys382Gln) n.754A>C c.832A>C (p.Lys278Gln) c.427A>C (p.Lys143Gln) | |
2 | g.162282529C>A | CA349003045 | IFIH1 | c.*740G>T (n.*740G>T) c.1143G>T (p.Leu381Phe) n.753G>T c.831G>T (p.Leu277Phe) c.426G>T (p.Leu142Phe) | gnomAD v4 |
2 | g.162282529C= | CA1303149359 | IFIH1 | c.*740G= (n.*740G=) c.1143G= (p.Leu381=) n.753G= c.831G= (p.Leu277=) c.426G= (p.Leu142=) | |
2 | g.162282529C>G | CA349003047 | IFIH1 | c.*740G>C (n.*740G>C) c.1143G>C (p.Leu381Phe) n.753G>C c.831G>C (p.Leu277Phe) c.426G>C (p.Leu142Phe) | |
2 | g.162282529C>T | CA429536144 | IFIH1 | c.*740G>A (n.*740G>A) c.1143G>A (p.Leu381=) n.753G>A c.831G>A (p.Leu277=) c.426G>A (p.Leu142=) | dbSNP |
2 | g.162282530A= | CA1303149360 | IFIH1 | c.*739T= (n.*739T=) c.1142T= (p.Leu381=) n.752T= c.830T= (p.Leu277=) c.425T= (p.Leu142=) | |
2 | g.162282530A>C | CA349003050 | IFIH1 | c.*739T>G (n.*739T>G) c.1142T>G (p.Leu381Trp) n.752T>G c.830T>G (p.Leu277Trp) c.425T>G (p.Leu142Trp) | |
2 | g.162282530A>G | CA1934603 | IFIH1 | c.*739T>C (n.*739T>C) c.1142T>C (p.Leu381Ser) n.752T>C c.830T>C (p.Leu277Ser) c.425T>C (p.Leu142Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.162282530A>T | CA349003052 | IFIH1 | c.*739T>A (n.*739T>A) c.1142T>A (p.Leu381Ter) n.752T>A c.830T>A (p.Leu277Ter) c.425T>A (p.Leu142Ter) | |
2 | g.162282531A>C | CA349003055 | IFIH1 | c.*738T>G (n.*738T>G) c.1141T>G (p.Leu381Val) n.751T>G c.829T>G (p.Leu277Val) c.424T>G (p.Leu142Val) | |
2 | g.162282531A>G | CA429536145 | IFIH1 | c.*738T>C (n.*738T>C) c.1141T>C (p.Leu381=) n.751T>C c.829T>C (p.Leu277=) c.424T>C (p.Leu142=) | |
2 | g.162282531A>T | CA349003057 | IFIH1 | c.*738T>A (n.*738T>A) c.1141T>A (p.Leu381Met) n.751T>A c.829T>A (p.Leu277Met) c.424T>A (p.Leu142Met) | |
2 | g.162282532A>C | CA349003059 | IFIH1 | c.*737T>G (n.*737T>G) c.1140T>G (p.Phe380Leu) n.750T>G c.828T>G (p.Phe276Leu) c.423T>G (p.Phe141Leu) | |
2 | g.162282532A>G | CA429536146 | IFIH1 | c.*737T>C (n.*737T>C) c.1140T>C (p.Phe380=) n.750T>C c.828T>C (p.Phe276=) c.423T>C (p.Phe141=) | |
2 | g.162282532A>T | CA349003061 | IFIH1 | c.*737T>A (n.*737T>A) c.1140T>A (p.Phe380Leu) n.750T>A c.828T>A (p.Phe276Leu) c.423T>A (p.Phe141Leu) | |
2 | g.162282533A>C | CA349003063 | IFIH1 | c.*736T>G (n.*736T>G) c.1139T>G (p.Phe380Cys) n.749T>G c.827T>G (p.Phe276Cys) c.422T>G (p.Phe141Cys) | |
2 | g.162282533A>G | CA349003065 | IFIH1 | c.*736T>C (n.*736T>C) c.1139T>C (p.Phe380Ser) n.749T>C c.827T>C (p.Phe276Ser) c.422T>C (p.Phe141Ser) | |
2 | g.162282533A>T | CA349003066 | IFIH1 | c.*736T>A (n.*736T>A) c.1139T>A (p.Phe380Tyr) n.749T>A c.827T>A (p.Phe276Tyr) c.422T>A (p.Phe141Tyr) | |
2 | g.162282534A>C | CA349003069 | IFIH1 | c.*735T>G (n.*735T>G) c.1138T>G (p.Phe380Val) n.748T>G c.826T>G (p.Phe276Val) c.421T>G (p.Phe141Val) | |
2 | g.162282534A>G | CA349003071 | IFIH1 | c.*735T>C (n.*735T>C) c.1138T>C (p.Phe380Leu) n.748T>C c.826T>C (p.Phe276Leu) c.421T>C (p.Phe141Leu) | |
2 | g.162282534A>T | CA349003073 | IFIH1 | c.*735T>A (n.*735T>A) c.1138T>A (p.Phe380Ile) n.748T>A c.826T>A (p.Phe276Ile) c.421T>A (p.Phe141Ile) | |
2 | g.162282535T>A | CA429536147 | IFIH1 | c.*734A>T (n.*734A>T) c.1137A>T (p.Pro379=) n.747A>T c.825A>T (p.Pro275=) c.420A>T (p.Pro140=) | |
2 | g.162282535T>C | CA429536148 | IFIH1 | c.*734A>G (n.*734A>G) c.1137A>G (p.Pro379=) n.747A>G c.825A>G (p.Pro275=) c.420A>G (p.Pro140=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.162282535T>G | CA429536149 | IFIH1 | c.*734A>C (n.*734A>C) c.1137A>C (p.Pro379=) n.747A>C c.825A>C (p.Pro275=) c.420A>C (p.Pro140=) | |
2 | g.162282535T= | CA1303149361 | IFIH1 | c.*734A= (n.*734A=) c.1137A= (p.Pro379=) n.747A= c.825A= (p.Pro275=) c.420A= (p.Pro140=) | |
2 | g.162282536G>A | CA349003076 | IFIH1 | c.*733C>T (n.*733C>T) c.1136C>T (p.Pro379Leu) n.746C>T c.824C>T (p.Pro275Leu) c.419C>T (p.Pro140Leu) | gnomAD v4 |
2 | g.162282536G>C | CA349003078 | IFIH1 | c.*733C>G (n.*733C>G) c.1136C>G (p.Pro379Arg) n.746C>G c.824C>G (p.Pro275Arg) c.419C>G (p.Pro140Arg) | |
2 | g.162282536G>T | CA349003080 | IFIH1 | c.*733C>A (n.*733C>A) c.1136C>A (p.Pro379Gln) n.746C>A c.824C>A (p.Pro275Gln) c.419C>A (p.Pro140Gln) | |
2 | g.162282537G>A | CA349003083 | IFIH1 | c.*732C>T (n.*732C>T) c.1135C>T (p.Pro379Ser) n.745C>T c.823C>T (p.Pro275Ser) c.418C>T (p.Pro140Ser) | |
2 | g.162282537G>C | CA349003086 | IFIH1 | c.*732C>G (n.*732C>G) c.1135C>G (p.Pro379Ala) n.745C>G c.823C>G (p.Pro275Ala) c.418C>G (p.Pro140Ala) | |
2 | g.162282537G>T | CA349003085 | IFIH1 | c.*732C>A (n.*732C>A) c.1135C>A (p.Pro379Thr) n.745C>A c.823C>A (p.Pro275Thr) c.418C>A (p.Pro140Thr) | |
2 | g.162282538T>A | CA1934604 | IFIH1 | c.*731A>T (n.*731A>T) c.1134A>T (p.Gln378His) n.744A>T c.822A>T (p.Gln274His) c.417A>T (p.Gln139His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.162282538T>C | CA429536150 | IFIH1 | c.*731A>G (n.*731A>G) c.1134A>G (p.Gln378=) n.744A>G c.822A>G (p.Gln274=) c.417A>G (p.Gln139=) | ClinVar dbSNP |
2 | g.162282538T>G | CA349003090 | IFIH1 | c.*731A>C (n.*731A>C) c.1134A>C (p.Gln378His) n.744A>C c.822A>C (p.Gln274His) c.417A>C (p.Gln139His) | |
2 | g.162282538T= | CA1303149362 | IFIH1 | c.*731A= (n.*731A=) c.1134A= (p.Gln378=) n.744A= c.822A= (p.Gln274=) c.417A= (p.Gln139=) | |
2 | g.162282539T>A | CA349003093 | IFIH1 | c.*730A>T (n.*730A>T) c.1133A>T (p.Gln378Leu) n.743A>T c.821A>T (p.Gln274Leu) c.416A>T (p.Gln139Leu) | |
2 | g.162282539T>C | CA349003095 | IFIH1 | c.*730A>G (n.*730A>G) c.1133A>G (p.Gln378Arg) n.743A>G c.821A>G (p.Gln274Arg) c.416A>G (p.Gln139Arg) | ClinVar dbSNP gnomAD v4 |
2 | g.162282539T>G | CA349003096 | IFIH1 | c.*730A>C (n.*730A>C) c.1133A>C (p.Gln378Pro) n.743A>C c.821A>C (p.Gln274Pro) c.416A>C (p.Gln139Pro) | |
2 | g.162282539T= | CA1303149363 | IFIH1 | c.*730A= (n.*730A=) c.1133A= (p.Gln378=) n.743A= c.821A= (p.Gln274=) c.416A= (p.Gln139=) |