| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.162267541C>A | CA348989914 | IFIH1 | c.*2433G>T (n.*2433G>T) c.2719G>T (p.Ala907Ser) n.597G>T n.2446G>T c.2836G>T (p.Ala946Ser) c.2524G>T (p.Ala842Ser) c.2119G>T (p.Ala707Ser) | |
| 2 | g.162267541C= | CA1303141333 | IFIH1 | c.*2433G= (n.*2433G=) c.2719G= (p.Ala907=) n.597G= n.2446G= c.2836G= (p.Ala946=) c.2524G= (p.Ala842=) c.2119G= (p.Ala707=) | |
| 2 | g.162267541C>G | CA348989915 | IFIH1 | c.*2433G>C (n.*2433G>C) c.2719G>C (p.Ala907Pro) n.597G>C n.2446G>C c.2836G>C (p.Ala946Pro) c.2524G>C (p.Ala842Pro) c.2119G>C (p.Ala707Pro) | gnomAD v4 |
| 2 | g.162267541C>T | CA1934058 | IFIH1 | c.*2433G>A (n.*2433G>A) c.2719G>A (p.Ala907Thr) n.597G>A n.2446G>A c.2836G>A (p.Ala946Thr) c.2524G>A (p.Ala842Thr) c.2119G>A (p.Ala707Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.162267542T>A | CA348989918 | IFIH1 | c.*2432A>T (n.*2432A>T) c.2718A>T (p.Lys906Asn) n.596A>T n.2445A>T c.2835A>T (p.Lys945Asn) c.2523A>T (p.Lys841Asn) c.2118A>T (p.Lys706Asn) | gnomAD v4 |
| 2 | g.162267542T>C | CA429528145 | IFIH1 | c.*2432A>G (n.*2432A>G) c.2718A>G (p.Lys906=) n.596A>G n.2445A>G c.2835A>G (p.Lys945=) c.2523A>G (p.Lys841=) c.2118A>G (p.Lys706=) | |
| 2 | g.162267542T>G | CA348989924 | IFIH1 | c.*2432A>C (n.*2432A>C) c.2718A>C (p.Lys906Asn) n.596A>C n.2445A>C c.2835A>C (p.Lys945Asn) c.2523A>C (p.Lys841Asn) c.2118A>C (p.Lys706Asn) | |
| 2 | g.162267543T>A | CA348989927 | IFIH1 | c.*2431A>T (n.*2431A>T) c.2717A>T (p.Lys906Ile) n.595A>T n.2444A>T c.2834A>T (p.Lys945Ile) c.2522A>T (p.Lys841Ile) c.2117A>T (p.Lys706Ile) | |
| 2 | g.162267543T>C | CA348989931 | IFIH1 | c.*2431A>G (n.*2431A>G) c.2717A>G (p.Lys906Arg) n.595A>G n.2444A>G c.2834A>G (p.Lys945Arg) c.2522A>G (p.Lys841Arg) c.2117A>G (p.Lys706Arg) | |
| 2 | g.162267543T>G | CA348989932 | IFIH1 | c.*2431A>C (n.*2431A>C) c.2717A>C (p.Lys906Thr) n.595A>C n.2444A>C c.2834A>C (p.Lys945Thr) c.2522A>C (p.Lys841Thr) c.2117A>C (p.Lys706Thr) | |
| 2 | g.162267544T>A | CA348989933 | IFIH1 | c.*2430A>T (n.*2430A>T) c.2716A>T (p.Lys906Ter) n.594A>T n.2443A>T c.2833A>T (p.Lys945Ter) c.2521A>T (p.Lys841Ter) c.2116A>T (p.Lys706Ter) | |
| 2 | g.162267544T>C | CA348989935 | IFIH1 | c.*2430A>G (n.*2430A>G) c.2716A>G (p.Lys906Glu) n.594A>G n.2443A>G c.2833A>G (p.Lys945Glu) c.2521A>G (p.Lys841Glu) c.2116A>G (p.Lys706Glu) | |
| 2 | g.162267544T>G | CA348989934 | IFIH1 | c.*2430A>C (n.*2430A>C) c.2716A>C (p.Lys906Gln) n.594A>C n.2443A>C c.2833A>C (p.Lys945Gln) c.2521A>C (p.Lys841Gln) c.2116A>C (p.Lys706Gln) | |
| 2 | g.162267545del | CA2580064155 | IFIH1 | c.*2429del (n.*2429del) c.2715del (p.Asn905LysfsTer13) n.593del n.2442del c.2832del (p.Asn944LysfsTer13) c.2520del (p.Asn840LysfsTer13) c.2115del (p.Asn705LysfsTer13) | ClinVar gnomAD v4 |
| 2 | g.162267545G>A | CA429528168 | IFIH1 | c.*2429C>T (n.*2429C>T) c.2715C>T (p.Asn905=) n.593C>T n.2442C>T c.2832C>T (p.Asn944=) c.2520C>T (p.Asn840=) c.2115C>T (p.Asn705=) | |
| 2 | g.162267545G>C | CA348989939 | IFIH1 | c.*2429C>G (n.*2429C>G) c.2715C>G (p.Asn905Lys) n.593C>G n.2442C>G c.2832C>G (p.Asn944Lys) c.2520C>G (p.Asn840Lys) c.2115C>G (p.Asn705Lys) | ClinVar dbSNP gnomAD v4 |
| 2 | g.162267545G= | CA1303141339 | IFIH1 | c.*2429C= (n.*2429C=) c.2715C= (p.Asn905=) n.593C= n.2442C= c.2832C= (p.Asn944=) c.2520C= (p.Asn840=) c.2115C= (p.Asn705=) | |
| 2 | g.162267545G>T | CA348989941 | IFIH1 | c.*2429C>A (n.*2429C>A) c.2715C>A (p.Asn905Lys) n.593C>A n.2442C>A c.2832C>A (p.Asn944Lys) c.2520C>A (p.Asn840Lys) c.2115C>A (p.Asn705Lys) | |
| 2 | g.162267546T>A | CA348989942 | IFIH1 | c.*2428A>T (n.*2428A>T) c.2714A>T (p.Asn905Ile) n.592A>T n.2441A>T c.2831A>T (p.Asn944Ile) c.2519A>T (p.Asn840Ile) c.2114A>T (p.Asn705Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.162267546T>C | CA348989943 | IFIH1 | c.*2428A>G (n.*2428A>G) c.2714A>G (p.Asn905Ser) n.592A>G n.2441A>G c.2831A>G (p.Asn944Ser) c.2519A>G (p.Asn840Ser) c.2114A>G (p.Asn705Ser) | |
| 2 | g.162267546T>G | CA348989944 | IFIH1 | c.*2428A>C (n.*2428A>C) c.2714A>C (p.Asn905Thr) n.592A>C n.2441A>C c.2831A>C (p.Asn944Thr) c.2519A>C (p.Asn840Thr) c.2114A>C (p.Asn705Thr) | |
| 2 | g.162267546T= | CA1303141343 | IFIH1 | c.*2428A= (n.*2428A=) c.2714A= (p.Asn905=) n.592A= n.2441A= c.2831A= (p.Asn944=) c.2519A= (p.Asn840=) c.2114A= (p.Asn705=) | |
| 2 | g.162267547T>A | CA348989945 | IFIH1 | c.*2427A>T (n.*2427A>T) c.2713A>T (p.Asn905Tyr) n.591A>T n.2440A>T c.2830A>T (p.Asn944Tyr) c.2518A>T (p.Asn840Tyr) c.2113A>T (p.Asn705Tyr) | |
| 2 | g.162267547T>C | CA348989962 | IFIH1 | c.*2427A>G (n.*2427A>G) c.2713A>G (p.Asn905Asp) n.591A>G n.2440A>G c.2830A>G (p.Asn944Asp) c.2518A>G (p.Asn840Asp) c.2113A>G (p.Asn705Asp) | |
| 2 | g.162267547T>G | CA348989964 | IFIH1 | c.*2427A>C (n.*2427A>C) c.2713A>C (p.Asn905His) n.591A>C n.2440A>C c.2830A>C (p.Asn944His) c.2518A>C (p.Asn840His) c.2113A>C (p.Asn705His) | |
| 2 | g.162267548T>A | CA348989967 | IFIH1 | c.*2426A>T (n.*2426A>T) c.2712A>T (p.Glu904Asp) n.590A>T n.2439A>T c.2829A>T (p.Glu943Asp) c.2517A>T (p.Glu839Asp) c.2112A>T (p.Glu704Asp) | |
| 2 | g.162267548T>C | CA429528197 | IFIH1 | c.*2426A>G (n.*2426A>G) c.2712A>G (p.Glu904=) n.590A>G n.2439A>G c.2829A>G (p.Glu943=) c.2517A>G (p.Glu839=) c.2112A>G (p.Glu704=) | |
| 2 | g.162267548T>G | CA348989970 | IFIH1 | c.*2426A>C (n.*2426A>C) c.2712A>C (p.Glu904Asp) n.590A>C n.2439A>C c.2829A>C (p.Glu943Asp) c.2517A>C (p.Glu839Asp) c.2112A>C (p.Glu704Asp) | |
| 2 | g.162267549T>A | CA348989992 | IFIH1 | c.*2425A>T (n.*2425A>T) c.2711A>T (p.Glu904Val) n.589A>T n.2438A>T c.2828A>T (p.Glu943Val) c.2516A>T (p.Glu839Val) c.2111A>T (p.Glu704Val) | |
| 2 | g.162267549T>C | CA348989978 | IFIH1 | c.*2425A>G (n.*2425A>G) c.2711A>G (p.Glu904Gly) n.589A>G n.2438A>G c.2828A>G (p.Glu943Gly) c.2516A>G (p.Glu839Gly) c.2111A>G (p.Glu704Gly) | |
| 2 | g.162267549T>G | CA348989975 | IFIH1 | c.*2425A>C (n.*2425A>C) c.2711A>C (p.Glu904Ala) n.589A>C n.2438A>C c.2828A>C (p.Glu943Ala) c.2516A>C (p.Glu839Ala) c.2111A>C (p.Glu704Ala) | |
| 2 | g.162267550C>A | CA348989997 | IFIH1 | c.*2424G>T (n.*2424G>T) c.2710G>T (p.Glu904Ter) n.588G>T n.2437G>T c.2827G>T (p.Glu943Ter) c.2515G>T (p.Glu839Ter) c.2110G>T (p.Glu704Ter) | ClinVar dbSNP |
| 2 | g.162267550C>G | CA348989999 | IFIH1 | c.*2424G>C (n.*2424G>C) c.2710G>C (p.Glu904Gln) n.588G>C n.2437G>C c.2827G>C (p.Glu943Gln) c.2515G>C (p.Glu839Gln) c.2110G>C (p.Glu704Gln) | |
| 2 | g.162267550C>T | CA348990014 | IFIH1 | c.*2424G>A (n.*2424G>A) c.2710G>A (p.Glu904Lys) n.588G>A n.2437G>A c.2827G>A (p.Glu943Lys) c.2515G>A (p.Glu839Lys) c.2110G>A (p.Glu704Lys) | COSMIC |
| 2 | g.162267551T>A | CA348990018 | IFIH1 | c.*2423A>T (n.*2423A>T) c.2709A>T (p.Arg903Ser) n.587A>T n.2436A>T c.2826A>T (p.Arg942Ser) c.2514A>T (p.Arg838Ser) c.2109A>T (p.Arg703Ser) | |
| 2 | g.162267551T>C | CA429528238 | IFIH1 | c.*2423A>G (n.*2423A>G) c.2709A>G (p.Arg903=) n.587A>G n.2436A>G c.2826A>G (p.Arg942=) c.2514A>G (p.Arg838=) c.2109A>G (p.Arg703=) | |
| 2 | g.162267551T>G | CA348990032 | IFIH1 | c.*2423A>C (n.*2423A>C) c.2709A>C (p.Arg903Ser) n.587A>C n.2436A>C c.2826A>C (p.Arg942Ser) c.2514A>C (p.Arg838Ser) c.2109A>C (p.Arg703Ser) | |
| 2 | g.162267552C>A | CA348990036 | IFIH1 | c.*2422G>T (n.*2422G>T) c.2708G>T (p.Arg903Ile) n.586G>T n.2435G>T c.2825G>T (p.Arg942Ile) c.2513G>T (p.Arg838Ile) c.2108G>T (p.Arg703Ile) | |
| 2 | g.162267552C>G | CA348990039 | IFIH1 | c.*2422G>C (n.*2422G>C) c.2708G>C (p.Arg903Thr) n.586G>C n.2435G>C c.2825G>C (p.Arg942Thr) c.2513G>C (p.Arg838Thr) c.2108G>C (p.Arg703Thr) | |
| 2 | g.162267552C>T | CA348990044 | IFIH1 | c.*2422G>A (n.*2422G>A) c.2708G>A (p.Arg903Lys) n.586G>A n.2435G>A c.2825G>A (p.Arg942Lys) c.2513G>A (p.Arg838Lys) c.2108G>A (p.Arg703Lys) | |
| 2 | g.162267553T>A | CA348990047 | IFIH1 | c.*2421A>T (n.*2421A>T) c.2707A>T (p.Arg903Ter) n.585A>T n.2434A>T c.2824A>T (p.Arg942Ter) c.2512A>T (p.Arg838Ter) c.2107A>T (p.Arg703Ter) | |
| 2 | g.162267553T>C | CA348990050 | IFIH1 | c.*2421A>G (n.*2421A>G) c.2707A>G (p.Arg903Gly) n.585A>G n.2434A>G c.2824A>G (p.Arg942Gly) c.2512A>G (p.Arg838Gly) c.2107A>G (p.Arg703Gly) | gnomAD v4 |
| 2 | g.162267553T>G | CA429528261 | IFIH1 | c.*2421A>C (n.*2421A>C) c.2707A>C (p.Arg903=) n.585A>C n.2434A>C c.2824A>C (p.Arg942=) c.2512A>C (p.Arg838=) c.2107A>C (p.Arg703=) | gnomAD v4 |
| 2 | g.162267554del | CA2661687837 | IFIH1 | c.*2421del (n.*2421del) c.2707del (p.Arg903GlufsTer15) n.585del n.2434del c.2824del (p.Arg942GlufsTer15) c.2512del (p.Arg838GlufsTer15) c.2107del (p.Arg703GlufsTer15) | gnomAD v4 |
| 2 | g.162267554T>A | CA429528265 | IFIH1 | c.*2420A>T (n.*2420A>T) c.2706A>T (p.Val902=) n.584A>T n.2433A>T c.2823A>T (p.Val941=) c.2511A>T (p.Val837=) c.2106A>T (p.Val702=) | dbSNP gnomAD v4 |
| 2 | g.162267554T>C | CA429528268 | IFIH1 | c.*2420A>G (n.*2420A>G) c.2706A>G (p.Val902=) n.584A>G n.2433A>G c.2823A>G (p.Val941=) c.2511A>G (p.Val837=) c.2106A>G (p.Val702=) | |
| 2 | g.162267554T>G | CA429528274 | IFIH1 | c.*2420A>C (n.*2420A>C) c.2706A>C (p.Val902=) n.584A>C n.2433A>C c.2823A>C (p.Val941=) c.2511A>C (p.Val837=) c.2106A>C (p.Val702=) | |
| 2 | g.162267554T= | CA1303141345 | IFIH1 | c.*2420A= (n.*2420A=) c.2706A= (p.Val902=) n.584A= n.2433A= c.2823A= (p.Val941=) c.2511A= (p.Val837=) c.2106A= (p.Val702=) | |
| 2 | g.162267555A>C | CA348990069 | IFIH1 | c.*2419T>G (n.*2419T>G) c.2705T>G (p.Val902Gly) n.583T>G n.2432T>G c.2822T>G (p.Val941Gly) c.2510T>G (p.Val837Gly) c.2105T>G (p.Val702Gly) | |
| 2 | g.162267555A>G | CA348990072 | IFIH1 | c.*2419T>C (n.*2419T>C) c.2705T>C (p.Val902Ala) n.583T>C n.2432T>C c.2822T>C (p.Val941Ala) c.2510T>C (p.Val837Ala) c.2105T>C (p.Val702Ala) |