| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150947372_150953685dup | CA2580614280 | KCNH2 | n.1962-831_3942dup c.1129-831_3109dup c.109-831_2089dup c.829-831_2809dup c.979-831_2959dup c.952-831_2932dup | |
| 7 | g.150948964_150949161del | CA2573141856 | KCNH2 | n.3232-108_3321del c.2399-108_2488del c.1379-108_1468del c.2099-108_2188del c.2249-108_2338del c.2222-108_2311del | ClinVar dbSNP |
| 7 | g.150949028_150949029delinsTC | CA1752432077 | KCNH2 | n.3252_3253delinsGA c.2419_2420delinsGA (p.Glu807=) c.1399_1400delinsGA (p.Glu467=) c.2119_2120delinsGA (p.Glu707=) c.2269_2270delinsGA (p.Glu757=) c.2242_2243delinsGA (p.Glu748=) | |
| 7 | g.150949029C>A | CA369855361 | KCNH2 | n.3252G>T c.2419G>T (p.Glu807Ter) c.1399G>T (p.Glu467Ter) c.2119G>T (p.Glu707Ter) c.2269G>T (p.Glu757Ter) c.2242G>T (p.Glu748Ter) | |
| 7 | g.150949029C>G | CA369855362 | KCNH2 | n.3252G>C c.2419G>C (p.Glu807Gln) c.1399G>C (p.Glu467Gln) c.2119G>C (p.Glu707Gln) c.2269G>C (p.Glu757Gln) c.2242G>C (p.Glu748Gln) | |
| 7 | g.150949029C>T | CA369855363 | KCNH2 | n.3252G>A c.2419G>A (p.Glu807Lys) c.1399G>A (p.Glu467Lys) c.2119G>A (p.Glu707Lys) c.2269G>A (p.Glu757Lys) c.2242G>A (p.Glu748Lys) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150949032dup | CA2685600757 | KCNH2 | n.3252dup c.2419dup (p.Glu807GlyfsTer23) c.1399dup (p.Glu467GlyfsTer23) c.2119dup (p.Glu707GlyfsTer23) c.2269dup (p.Glu757GlyfsTer23) c.2242dup (p.Glu748GlyfsTer23) | gnomAD v4 |
| 7 | g.150949032del | CA006738 | KCNH2 | n.3252del c.2419del (p.Glu807SerfsTer3) c.1399del (p.Glu467SerfsTer3) c.2119del (p.Glu707SerfsTer3) c.2269del (p.Glu757SerfsTer3) c.2242del (p.Glu748SerfsTer3) | ClinVar dbSNP |
| 7 | g.150949030C>A | CA458645217 | KCNH2 | n.3251G>T c.2418G>T (p.Gly806=) c.1398G>T (p.Gly466=) c.2118G>T (p.Gly706=) c.2268G>T (p.Gly756=) c.2241G>T (p.Gly747=) | |
| 7 | g.150949030C>G | CA458645215 | KCNH2 | n.3251G>C c.2418G>C (p.Gly806=) c.1398G>C (p.Gly466=) c.2118G>C (p.Gly706=) c.2268G>C (p.Gly756=) c.2241G>C (p.Gly747=) | |
| 7 | g.150949030C>T | CA458645216 | KCNH2 | n.3251G>A c.2418G>A (p.Gly806=) c.1398G>A (p.Gly466=) c.2118G>A (p.Gly706=) c.2268G>A (p.Gly756=) c.2241G>A (p.Gly747=) | |
| 7 | g.150949031C>A | CA369855364 | KCNH2 | n.3250G>T c.2417G>T (p.Gly806Val) c.1397G>T (p.Gly466Val) c.2117G>T (p.Gly706Val) c.2267G>T (p.Gly756Val) c.2240G>T (p.Gly747Val) | |
| 7 | g.150949031C= | CA1752432081 | KCNH2 | n.3250G= c.2417G= (p.Gly806=) c.1397G= (p.Gly466=) c.2117G= (p.Gly706=) c.2267G= (p.Gly756=) c.2240G= (p.Gly747=) | |
| 7 | g.150949031C>G | CA006729 | KCNH2 | n.3250G>C c.2417G>C (p.Gly806Ala) c.1397G>C (p.Gly466Ala) c.2117G>C (p.Gly706Ala) c.2267G>C (p.Gly756Ala) c.2240G>C (p.Gly747Ala) | ClinVar dbSNP |
| 7 | g.150949031C>T | CA006718 | KCNH2 | n.3250G>A c.2417G>A (p.Gly806Glu) c.1397G>A (p.Gly466Glu) c.2117G>A (p.Gly706Glu) c.2267G>A (p.Gly756Glu) c.2240G>A (p.Gly747Glu) | ClinVar dbSNP |
| 7 | g.150949032C>A | CA369855365 | KCNH2 | n.3249G>T c.2416G>T (p.Gly806Trp) c.1396G>T (p.Gly466Trp) c.2116G>T (p.Gly706Trp) c.2266G>T (p.Gly756Trp) c.2239G>T (p.Gly747Trp) | |
| 7 | g.150949032C>G | CA369855366 | KCNH2 | n.3249G>C c.2416G>C (p.Gly806Arg) c.1396G>C (p.Gly466Arg) c.2116G>C (p.Gly706Arg) c.2266G>C (p.Gly756Arg) c.2239G>C (p.Gly747Arg) | |
| 7 | g.150949032C>T | CA369855367 | KCNH2 | n.3249G>A c.2416G>A (p.Gly806Arg) c.1396G>A (p.Gly466Arg) c.2116G>A (p.Gly706Arg) c.2266G>A (p.Gly756Arg) c.2239G>A (p.Gly747Arg) | |
| 7 | g.150949032_150949033delinsCA | CA1752432082 | KCNH2 | n.3248_3249delinsTG c.2415_2416delinsTG (p.Phe805=) c.1395_1396delinsTG (p.Phe465=) c.2115_2116delinsTG (p.Phe705=) c.2265_2266delinsTG (p.Phe755=) c.2238_2239delinsTG (p.Phe746=) | |
| 7 | g.150949033A>C | CA369855368 | KCNH2 | n.3248T>G c.2415T>G (p.Phe805Leu) c.1395T>G (p.Phe465Leu) c.2115T>G (p.Phe705Leu) c.2265T>G (p.Phe755Leu) c.2238T>G (p.Phe746Leu) | |
| 7 | g.150949033A>G | CA458645218 | KCNH2 | n.3248T>C c.2415T>C (p.Phe805=) c.1395T>C (p.Phe465=) c.2115T>C (p.Phe705=) c.2265T>C (p.Phe755=) c.2238T>C (p.Phe746=) | |
| 7 | g.150949033A>T | CA369855369 | KCNH2 | n.3248T>A c.2415T>A (p.Phe805Leu) c.1395T>A (p.Phe465Leu) c.2115T>A (p.Phe705Leu) c.2265T>A (p.Phe755Leu) c.2238T>A (p.Phe746Leu) | |
| 7 | g.150949035del | CA16618404 | KCNH2 | n.3248del c.2415del (p.Phe805LeufsTer5) c.1395del (p.Phe465LeufsTer5) c.2115del (p.Phe705LeufsTer5) c.2265del (p.Phe755LeufsTer5) c.2238del (p.Phe746LeufsTer5) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150949034A= | CA1752432085 | KCNH2 | n.3247T= c.2414T= (p.Phe805=) c.1394T= (p.Phe465=) c.2114T= (p.Phe705=) c.2264T= (p.Phe755=) c.2237T= (p.Phe746=) | |
| 7 | g.150949034A>C | CA006712 | KCNH2 | n.3247T>G c.2414T>G (p.Phe805Cys) c.1394T>G (p.Phe465Cys) c.2114T>G (p.Phe705Cys) c.2264T>G (p.Phe755Cys) c.2237T>G (p.Phe746Cys) | ClinVar dbSNP |
| 7 | g.150949034A>G | CA006704 | KCNH2 | n.3247T>C c.2414T>C (p.Phe805Ser) c.1394T>C (p.Phe465Ser) c.2114T>C (p.Phe705Ser) c.2264T>C (p.Phe755Ser) c.2237T>C (p.Phe746Ser) | ClinVar dbSNP |
| 7 | g.150949034A>T | CA369855370 | KCNH2 | n.3247T>A c.2414T>A (p.Phe805Tyr) c.1394T>A (p.Phe465Tyr) c.2114T>A (p.Phe705Tyr) c.2264T>A (p.Phe755Tyr) c.2237T>A (p.Phe746Tyr) | |
| 7 | g.150949035A>C | CA369855371 | KCNH2 | n.3246T>G c.2413T>G (p.Phe805Val) c.1393T>G (p.Phe465Val) c.2113T>G (p.Phe705Val) c.2263T>G (p.Phe755Val) c.2236T>G (p.Phe746Val) | |
| 7 | g.150949035A>G | CA369855372 | KCNH2 | n.3246T>C c.2413T>C (p.Phe805Leu) c.1393T>C (p.Phe465Leu) c.2113T>C (p.Phe705Leu) c.2263T>C (p.Phe755Leu) c.2236T>C (p.Phe746Leu) | |
| 7 | g.150949035A>T | CA369855373 | KCNH2 | n.3246T>A c.2413T>A (p.Phe805Ile) c.1393T>A (p.Phe465Ile) c.2113T>A (p.Phe705Ile) c.2263T>A (p.Phe755Ile) c.2236T>A (p.Phe746Ile) | |
| 7 | g.150949036G>A | CA458645219 | KCNH2 | n.3245C>T c.2412C>T (p.Ile804=) c.1392C>T (p.Ile464=) c.2112C>T (p.Ile704=) c.2262C>T (p.Ile754=) c.2235C>T (p.Ile745=) | |
| 7 | g.150949036G>C | CA369855374 | KCNH2 | n.3245C>G c.2412C>G (p.Ile804Met) c.1392C>G (p.Ile464Met) c.2112C>G (p.Ile704Met) c.2262C>G (p.Ile754Met) c.2235C>G (p.Ile745Met) | |
| 7 | g.150949036G= | CA1752432090 | KCNH2 | n.3245C= c.2412C= (p.Ile804=) c.1392C= (p.Ile464=) c.2112C= (p.Ile704=) c.2262C= (p.Ile754=) c.2235C= (p.Ile745=) | |
| 7 | g.150949036G>T | CA032681 | KCNH2 | n.3245C>A c.2412C>A (p.Ile804=) c.1392C>A (p.Ile464=) c.2112C>A (p.Ile704=) c.2262C>A (p.Ile754=) c.2235C>A (p.Ile745=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150949037A>C | CA369855375 | KCNH2 | n.3244T>G c.2411T>G (p.Ile804Ser) c.1391T>G (p.Ile464Ser) c.2111T>G (p.Ile704Ser) c.2261T>G (p.Ile754Ser) c.2234T>G (p.Ile745Ser) | |
| 7 | g.150949037A>G | CA369855376 | KCNH2 | n.3244T>C c.2411T>C (p.Ile804Thr) c.1391T>C (p.Ile464Thr) c.2111T>C (p.Ile704Thr) c.2261T>C (p.Ile754Thr) c.2234T>C (p.Ile745Thr) | |
| 7 | g.150949037A>T | CA369855377 | KCNH2 | n.3244T>A c.2411T>A (p.Ile804Asn) c.1391T>A (p.Ile464Asn) c.2111T>A (p.Ile704Asn) c.2261T>A (p.Ile754Asn) c.2234T>A (p.Ile745Asn) | |
| 7 | g.150949038T>A | CA369855378 | KCNH2 | n.3243A>T c.2410A>T (p.Ile804Phe) c.1390A>T (p.Ile464Phe) c.2110A>T (p.Ile704Phe) c.2260A>T (p.Ile754Phe) c.2233A>T (p.Ile745Phe) | |
| 7 | g.150949038T>C | CA369855379 | KCNH2 | n.3243A>G c.2410A>G (p.Ile804Val) c.1390A>G (p.Ile464Val) c.2110A>G (p.Ile704Val) c.2260A>G (p.Ile754Val) c.2233A>G (p.Ile745Val) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150949038T>G | CA369855380 | KCNH2 | n.3243A>C c.2410A>C (p.Ile804Leu) c.1390A>C (p.Ile464Leu) c.2110A>C (p.Ile704Leu) c.2260A>C (p.Ile754Leu) c.2233A>C (p.Ile745Leu) | |
| 7 | g.150949038T= | CA1752432093 | KCNH2 | n.3243A= c.2410A= (p.Ile804=) c.1390A= (p.Ile464=) c.2110A= (p.Ile704=) c.2260A= (p.Ile754=) c.2233A= (p.Ile745=) | |
| 7 | g.150949038_150949041delinsTGTC | CA1752432094 | KCNH2 | n.3240_3243delinsGACA c.2407_2410delinsGACA (p.Asp803=) c.1387_1390delinsGACA (p.Asp463=) c.2107_2110delinsGACA (p.Asp703=) c.2257_2260delinsGACA (p.Asp753=) c.2230_2233delinsGACA (p.Asp744=) | |
| 7 | g.150949039G>A | CA032653 | KCNH2 | n.3242C>T c.2409C>T (p.Asp803=) c.1389C>T (p.Asp463=) c.2109C>T (p.Asp703=) c.2259C>T (p.Asp753=) c.2232C>T (p.Asp744=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150949039G>C | CA369855382 | KCNH2 | n.3242C>G c.2409C>G (p.Asp803Glu) c.1389C>G (p.Asp463Glu) c.2109C>G (p.Asp703Glu) c.2259C>G (p.Asp753Glu) c.2232C>G (p.Asp744Glu) | |
| 7 | g.150949039G= | CA1752432097 | KCNH2 | n.3242C= c.2409C= (p.Asp803=) c.1389C= (p.Asp463=) c.2109C= (p.Asp703=) c.2259C= (p.Asp753=) c.2232C= (p.Asp744=) | |
| 7 | g.150949039G>T | CA369855381 | KCNH2 | n.3242C>A c.2409C>A (p.Asp803Glu) c.1389C>A (p.Asp463Glu) c.2109C>A (p.Asp703Glu) c.2259C>A (p.Asp753Glu) c.2232C>A (p.Asp744Glu) | |
| 7 | g.150949039_150949041del | CA916080386 | KCNH2 | n.3240_3242del c.2407_2409del (p.Asp803del) c.1387_1389del (p.Asp463del) c.2107_2109del (p.Asp703del) c.2257_2259del (p.Asp753del) c.2230_2232del (p.Asp744del) | ClinVar dbSNP |
| 7 | g.150949040T>A | CA369855383 | KCNH2 | n.3241A>T c.2408A>T (p.Asp803Val) c.1388A>T (p.Asp463Val) c.2108A>T (p.Asp703Val) c.2258A>T (p.Asp753Val) c.2231A>T (p.Asp744Val) | |
| 7 | g.150949040T>C | CA369855384 | KCNH2 | n.3241A>G c.2408A>G (p.Asp803Gly) c.1388A>G (p.Asp463Gly) c.2108A>G (p.Asp703Gly) c.2258A>G (p.Asp753Gly) c.2231A>G (p.Asp744Gly) | |
| 7 | g.150949040T>G | CA369855385 | KCNH2 | n.3241A>C c.2408A>C (p.Asp803Ala) c.1388A>C (p.Asp463Ala) c.2108A>C (p.Asp703Ala) c.2258A>C (p.Asp753Ala) c.2231A>C (p.Asp744Ala) |