| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.162282558G>A | CA163489 | IFIH1 | c.*711C>T (n.*711C>T) c.1114C>T (p.Leu372Phe) n.724C>T c.802C>T (p.Leu268Phe) c.397C>T (p.Leu133Phe) | ClinVar dbSNP |
| 2 | g.162282558G>C | CA349003180 | IFIH1 | c.*711C>G (n.*711C>G) c.1114C>G (p.Leu372Val) n.724C>G c.802C>G (p.Leu268Val) c.397C>G (p.Leu133Val) | ClinVar dbSNP |
| 2 | g.162282558G= | CA1303149369 | IFIH1 | c.*711C= (n.*711C=) c.1114C= (p.Leu372=) n.724C= c.802C= (p.Leu268=) c.397C= (p.Leu133=) | |
| 2 | g.162282558G>T | CA349003182 | IFIH1 | c.*711C>A (n.*711C>A) c.1114C>A (p.Leu372Ile) n.724C>A c.802C>A (p.Leu268Ile) c.397C>A (p.Leu133Ile) | |
| 2 | g.162282559C>A | CA349003184 | IFIH1 | c.*710G>T (n.*710G>T) c.1113G>T (p.Gln371His) n.723G>T c.801G>T (p.Gln267His) c.396G>T (p.Gln132His) | gnomAD v4 |
| 2 | g.162282559C>G | CA349003186 | IFIH1 | c.*710G>C (n.*710G>C) c.1113G>C (p.Gln371His) n.723G>C c.801G>C (p.Gln267His) c.396G>C (p.Gln132His) | |
| 2 | g.162282559C>T | CA429536163 | IFIH1 | c.*710G>A (n.*710G>A) c.1113G>A (p.Gln371=) n.723G>A c.801G>A (p.Gln267=) c.396G>A (p.Gln132=) | |
| 2 | g.162282560T>A | CA349003189 | IFIH1 | c.*709A>T (n.*709A>T) c.1112A>T (p.Gln371Leu) n.722A>T c.800A>T (p.Gln267Leu) c.395A>T (p.Gln132Leu) | |
| 2 | g.162282560T>C | CA349003190 | IFIH1 | c.*709A>G (n.*709A>G) c.1112A>G (p.Gln371Arg) n.722A>G c.800A>G (p.Gln267Arg) c.395A>G (p.Gln132Arg) | |
| 2 | g.162282560T>G | CA349003193 | IFIH1 | c.*709A>C (n.*709A>C) c.1112A>C (p.Gln371Pro) n.722A>C c.800A>C (p.Gln267Pro) c.395A>C (p.Gln132Pro) | |
| 2 | g.162282561G>A | CA349003198 | IFIH1 | c.*708C>T (n.*708C>T) c.1111C>T (p.Gln371Ter) n.721C>T c.799C>T (p.Gln267Ter) c.394C>T (p.Gln132Ter) | dbSNP gnomAD v4 |
| 2 | g.162282561G>C | CA349003200 | IFIH1 | c.*708C>G (n.*708C>G) c.1111C>G (p.Gln371Glu) n.721C>G c.799C>G (p.Gln267Glu) c.394C>G (p.Gln132Glu) | |
| 2 | g.162282561G= | CA1303149370 | IFIH1 | c.*708C= (n.*708C=) c.1111C= (p.Gln371=) n.721C= c.799C= (p.Gln267=) c.394C= (p.Gln132=) | |
| 2 | g.162282561G>T | CA349003195 | IFIH1 | c.*708C>A (n.*708C>A) c.1111C>A (p.Gln371Lys) n.721C>A c.799C>A (p.Gln267Lys) c.394C>A (p.Gln132Lys) | gnomAD v4 |
| 2 | g.162282562T>A | CA349003202 | IFIH1 | c.*707A>T (n.*707A>T) c.1110A>T (p.Glu370Asp) n.720A>T c.798A>T (p.Glu266Asp) c.393A>T (p.Glu131Asp) | |
| 2 | g.162282562T>C | CA429536164 | IFIH1 | c.*707A>G (n.*707A>G) c.1110A>G (p.Glu370=) n.720A>G c.798A>G (p.Glu266=) c.393A>G (p.Glu131=) | dbSNP |
| 2 | g.162282562T>G | CA349003203 | IFIH1 | c.*707A>C (n.*707A>C) c.1110A>C (p.Glu370Asp) n.720A>C c.798A>C (p.Glu266Asp) c.393A>C (p.Glu131Asp) | |
| 2 | g.162282562T= | CA1303149371 | IFIH1 | c.*707A= (n.*707A=) c.1110A= (p.Glu370=) n.720A= c.798A= (p.Glu266=) c.393A= (p.Glu131=) | |
| 2 | g.162282563T>A | CA349003205 | IFIH1 | c.*706A>T (n.*706A>T) c.1109A>T (p.Glu370Val) n.719A>T c.797A>T (p.Glu266Val) c.392A>T (p.Glu131Val) | |
| 2 | g.162282563T>C | CA349003208 | IFIH1 | c.*706A>G (n.*706A>G) c.1109A>G (p.Glu370Gly) n.719A>G c.797A>G (p.Glu266Gly) c.392A>G (p.Glu131Gly) | |
| 2 | g.162282563T>G | CA349003210 | IFIH1 | c.*706A>C (n.*706A>C) c.1109A>C (p.Glu370Ala) n.719A>C c.797A>C (p.Glu266Ala) c.392A>C (p.Glu131Ala) | |
| 2 | g.162282564C>A | CA349003215 | IFIH1 | c.*705G>T (n.*705G>T) c.1108G>T (p.Glu370Ter) n.718G>T c.796G>T (p.Glu266Ter) c.391G>T (p.Glu131Ter) | |
| 2 | g.162282564C>G | CA349003212 | IFIH1 | c.*705G>C (n.*705G>C) c.1108G>C (p.Glu370Gln) n.718G>C c.796G>C (p.Glu266Gln) c.391G>C (p.Glu131Gln) | |
| 2 | g.162282564C>T | CA349003213 | IFIH1 | c.*705G>A (n.*705G>A) c.1108G>A (p.Glu370Lys) n.718G>A c.796G>A (p.Glu266Lys) c.391G>A (p.Glu131Lys) | |
| 2 | g.162282565_162282567del | CA2533728029 | IFIH1 | c.*703_*705del (n.*703_*705del) c.1106_1108del (p.Val369del) n.716_718del c.794_796del (p.Val265del) c.389_391del (p.Val130del) | |
| 2 | g.162282565A>C | CA429536167 | IFIH1 | c.*704T>G (n.*704T>G) c.1107T>G (p.Val369=) n.717T>G c.795T>G (p.Val265=) c.390T>G (p.Val130=) | |
| 2 | g.162282565A>G | CA429536166 | IFIH1 | c.*704T>C (n.*704T>C) c.1107T>C (p.Val369=) n.717T>C c.795T>C (p.Val265=) c.390T>C (p.Val130=) | |
| 2 | g.162282565A>T | CA429536165 | IFIH1 | c.*704T>A (n.*704T>A) c.1107T>A (p.Val369=) n.717T>A c.795T>A (p.Val265=) c.390T>A (p.Val130=) | |
| 2 | g.162282566A= | CA1303149372 | IFIH1 | c.*703T= (n.*703T=) c.1106T= (p.Val369=) n.716T= c.794T= (p.Val265=) c.389T= (p.Val130=) | |
| 2 | g.162282566A>C | CA349003217 | IFIH1 | c.*703T>G (n.*703T>G) c.1106T>G (p.Val369Gly) n.716T>G c.794T>G (p.Val265Gly) c.389T>G (p.Val130Gly) | |
| 2 | g.162282566A>G | CA349003219 | IFIH1 | c.*703T>C (n.*703T>C) c.1106T>C (p.Val369Ala) n.716T>C c.794T>C (p.Val265Ala) c.389T>C (p.Val130Ala) | gnomAD v4 |
| 2 | g.162282566A>T | CA349003221 | IFIH1 | c.*703T>A (n.*703T>A) c.1106T>A (p.Val369Asp) n.716T>A c.794T>A (p.Val265Asp) c.389T>A (p.Val130Asp) | dbSNP |
| 2 | g.162282567C>A | CA349003224 | IFIH1 | c.*702G>T (n.*702G>T) c.1105G>T (p.Val369Phe) n.715G>T c.793G>T (p.Val265Phe) c.388G>T (p.Val130Phe) | |
| 2 | g.162282567C>G | CA349003226 | IFIH1 | c.*702G>C (n.*702G>C) c.1105G>C (p.Val369Leu) n.715G>C c.793G>C (p.Val265Leu) c.388G>C (p.Val130Leu) | |
| 2 | g.162282567C>T | CA349003228 | IFIH1 | c.*702G>A (n.*702G>A) c.1105G>A (p.Val369Ile) n.715G>A c.793G>A (p.Val265Ile) c.388G>A (p.Val130Ile) | gnomAD v4 |
| 2 | g.162282568T>A | CA429536168 | IFIH1 | c.*701A>T (n.*701A>T) c.1104A>T (p.Leu368=) n.714A>T c.792A>T (p.Leu264=) c.387A>T (p.Leu129=) | gnomAD v4 |
| 2 | g.162282568T>C | CA1934608 | IFIH1 | c.*701A>G (n.*701A>G) c.1104A>G (p.Leu368=) n.714A>G c.792A>G (p.Leu264=) c.387A>G (p.Leu129=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.162282568T>G | CA429536169 | IFIH1 | c.*701A>C (n.*701A>C) c.1104A>C (p.Leu368=) n.714A>C c.792A>C (p.Leu264=) c.387A>C (p.Leu129=) | |
| 2 | g.162282568T= | CA1303149373 | IFIH1 | c.*701A= (n.*701A=) c.1104A= (p.Leu368=) n.714A= c.792A= (p.Leu264=) c.387A= (p.Leu129=) | |
| 2 | g.162282569A>C | CA349003233 | IFIH1 | c.*700T>G (n.*700T>G) c.1103T>G (p.Leu368Arg) n.713T>G c.791T>G (p.Leu264Arg) c.386T>G (p.Leu129Arg) | |
| 2 | g.162282569A>G | CA349003231 | IFIH1 | c.*700T>C (n.*700T>C) c.1103T>C (p.Leu368Pro) n.713T>C c.791T>C (p.Leu264Pro) c.386T>C (p.Leu129Pro) | |
| 2 | g.162282569A>T | CA349003234 | IFIH1 | c.*700T>A (n.*700T>A) c.1103T>A (p.Leu368Gln) n.713T>A c.791T>A (p.Leu264Gln) c.386T>A (p.Leu129Gln) | |
| 2 | g.162282570G>A | CA429536170 | IFIH1 | c.*699C>T (n.*699C>T) c.1102C>T (p.Leu368=) n.712C>T c.790C>T (p.Leu264=) c.385C>T (p.Leu129=) | |
| 2 | g.162282570G>C | CA349003237 | IFIH1 | c.*699C>G (n.*699C>G) c.1102C>G (p.Leu368Val) n.712C>G c.790C>G (p.Leu264Val) c.385C>G (p.Leu129Val) | |
| 2 | g.162282570G>T | CA349003239 | IFIH1 | c.*699C>A (n.*699C>A) c.1102C>A (p.Leu368Ile) n.712C>A c.790C>A (p.Leu264Ile) c.385C>A (p.Leu129Ile) | gnomAD v4 |
| 2 | g.162282571del | CA2661689497 | IFIH1 | c.*698del (n.*698del) c.1101del (p.Leu368Ter) n.711del c.789del (p.Leu264Ter) c.384del (p.Leu129Ter) | gnomAD v4 |
| 2 | g.162282571C>A | CA429536171 | IFIH1 | c.*698G>T (n.*698G>T) c.1101G>T (p.Leu367=) n.711G>T c.789G>T (p.Leu263=) c.384G>T (p.Leu128=) | gnomAD v4 |
| 2 | g.162282571C= | CA1303149374 | IFIH1 | c.*698G= (n.*698G=) c.1101G= (p.Leu367=) n.711G= c.789G= (p.Leu263=) c.384G= (p.Leu128=) | |
| 2 | g.162282571C>G | CA1934609 | IFIH1 | c.*698G>C (n.*698G>C) c.1101G>C (p.Leu367=) n.711G>C c.789G>C (p.Leu263=) c.384G>C (p.Leu128=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.162282571C>T | CA59666029 | IFIH1 | c.*698G>A (n.*698G>A) c.1101G>A (p.Leu367=) n.711G>A c.789G>A (p.Leu263=) c.384G>A (p.Leu128=) | dbSNP gnomAD v4 |