| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.24240514T>A | CA485782333 | TINF2 | c.966A>T (p.Ala322=) c.858A>T (p.Ala286=) c.861A>T (p.Ala287=) n.85A>T c.*338A>T (p.=) n.758-34A>T c.*346A>T (p.=) c.324A>T (p.Ala108=) | |
| 14 | g.24240514T>C | CA485782335 | TINF2 | c.966A>G (p.Ala322=) c.858A>G (p.Ala286=) c.861A>G (p.Ala287=) n.85A>G c.*338A>G (p.=) n.758-34A>G c.*346A>G (p.=) c.324A>G (p.Ala108=) | |
| 14 | g.24240514T>G | CA485782337 | TINF2 | c.966A>C (p.Ala322=) c.858A>C (p.Ala286=) c.861A>C (p.Ala287=) n.85A>C c.*338A>C (p.=) n.758-34A>C c.*346A>C (p.=) c.324A>C (p.Ala108=) | |
| 14 | g.24240515G>A | CA389224140 | TINF2 | c.965C>T (p.Ala322Val) c.857C>T (p.Ala286Val) c.860C>T (p.Ala287Val) n.84C>T c.*337C>T (p.=) n.758-35C>T c.*345C>T (p.=) c.323C>T (p.Ala108Val) | |
| 14 | g.24240515G>C | CA389224144 | TINF2 | c.965C>G (p.Ala322Gly) c.857C>G (p.Ala286Gly) c.860C>G (p.Ala287Gly) n.84C>G c.*337C>G (p.=) n.758-35C>G c.*345C>G (p.=) c.323C>G (p.Ala108Gly) | |
| 14 | g.24240515G>T | CA389224146 | TINF2 | c.965C>A (p.Ala322Glu) c.857C>A (p.Ala286Glu) c.860C>A (p.Ala287Glu) n.84C>A c.*337C>A (p.=) n.758-35C>A c.*345C>A (p.=) c.323C>A (p.Ala108Glu) | |
| 14 | g.24240516C>A | CA389224149 | TINF2 | c.964G>T (p.Ala322Ser) c.856G>T (p.Ala286Ser) c.859G>T (p.Ala287Ser) n.83G>T c.*336G>T (p.=) n.758-36G>T c.*344G>T (p.=) c.322G>T (p.Ala108Ser) | |
| 14 | g.24240516C>G | CA389224152 | TINF2 | c.964G>C (p.Ala322Pro) c.856G>C (p.Ala286Pro) c.859G>C (p.Ala287Pro) n.83G>C c.*336G>C (p.=) n.758-36G>C c.*344G>C (p.=) c.322G>C (p.Ala108Pro) | |
| 14 | g.24240516C>T | CA389224155 | TINF2 | c.964G>A (p.Ala322Thr) c.856G>A (p.Ala286Thr) c.859G>A (p.Ala287Thr) n.83G>A c.*336G>A (p.=) n.758-36G>A c.*344G>A (p.=) c.322G>A (p.Ala108Thr) | |
| 14 | g.24240517T>A | CA389224158 | TINF2 | c.963A>T (p.Arg321Ser) c.855A>T (p.Arg285Ser) c.858A>T (p.Arg286Ser) n.82A>T c.*335A>T (p.=) n.758-37A>T c.*343A>T (p.=) c.321A>T (p.Arg107Ser) | |
| 14 | g.24240517T>C | CA485782340 | TINF2 | c.963A>G (p.Arg321=) c.855A>G (p.Arg285=) c.858A>G (p.Arg286=) n.82A>G c.*335A>G (p.=) n.758-37A>G c.*343A>G (p.=) c.321A>G (p.Arg107=) | |
| 14 | g.24240517T>G | CA389224162 | TINF2 | c.963A>C (p.Arg321Ser) c.855A>C (p.Arg285Ser) c.858A>C (p.Arg286Ser) n.82A>C c.*335A>C (p.=) n.758-37A>C c.*343A>C (p.=) c.321A>C (p.Arg107Ser) | |
| 14 | g.24240518C>A | CA389224174 | TINF2 | c.962G>T (p.Arg321Ile) c.854G>T (p.Arg285Ile) c.857G>T (p.Arg286Ile) n.81G>T c.*334G>T (p.=) n.758-38G>T c.*342G>T (p.=) c.320G>T (p.Arg107Ile) | |
| 14 | g.24240518C= | CA2123849240 | TINF2 | c.962G= (p.Arg321=) c.854G= (p.Arg285=) c.857G= (p.Arg286=) n.81G= c.*334G= (p.=) n.758-38G= c.*342G= (p.=) c.320G= (p.Arg107=) | |
| 14 | g.24240518C>G | CA389224178 | TINF2 | c.962G>C (p.Arg321Thr) c.854G>C (p.Arg285Thr) c.857G>C (p.Arg286Thr) n.81G>C c.*334G>C (p.=) n.758-38G>C c.*342G>C (p.=) c.320G>C (p.Arg107Thr) | gnomAD |
| 14 | g.24240518C>T | CA389224166 | TINF2 | c.962G>A (p.Arg321Lys) c.854G>A (p.Arg285Lys) c.857G>A (p.Arg286Lys) n.81G>A c.*334G>A (p.=) n.758-38G>A c.*342G>A (p.=) c.320G>A (p.Arg107Lys) | |
| 14 | g.24240519T>A | CA389224197 | TINF2 | c.961A>T (p.Arg321Ter) c.853A>T (p.Arg285Ter) c.856A>T (p.Arg286Ter) n.80A>T c.*333A>T (p.=) n.758-39A>T c.*341A>T (p.=) c.319A>T (p.Arg107Ter) | |
| 14 | g.24240519T>C | CA389224204 | TINF2 | c.961A>G (p.Arg321Gly) c.853A>G (p.Arg285Gly) c.856A>G (p.Arg286Gly) n.80A>G c.*333A>G (p.=) n.758-39A>G c.*341A>G (p.=) c.319A>G (p.Arg107Gly) | |
| 14 | g.24240519T>G | CA485782347 | TINF2 | c.961A>C (p.Arg321=) c.853A>C (p.Arg285=) c.856A>C (p.Arg286=) n.80A>C c.*333A>C (p.=) n.758-39A>C c.*341A>C (p.=) c.319A>C (p.Arg107=) | |
| 14 | g.24240519T= | CA2123849242 | TINF2 | c.961A= (p.Arg321=) c.853A= (p.Arg285=) c.856A= (p.Arg286=) n.80A= c.*333A= (p.=) n.758-39A= c.*341A= (p.=) c.319A= (p.Arg107=) | |
| 14 | g.24240520T>A | CA485782349 | TINF2 | c.960A>T (p.Thr320=) c.852A>T (p.Thr284=) c.855A>T (p.Thr285=) n.79A>T c.*332A>T (p.=) n.758-40A>T c.*340A>T (p.=) c.318A>T (p.Thr106=) | |
| 14 | g.24240520T>C | CA485782351 | TINF2 | c.960A>G (p.Thr320=) c.852A>G (p.Thr284=) c.855A>G (p.Thr285=) n.79A>G c.*332A>G (p.=) n.758-40A>G c.*340A>G (p.=) c.318A>G (p.Thr106=) | |
| 14 | g.24240520T>G | CA257880892 | TINF2 | c.960A>C (p.Thr320=) c.852A>C (p.Thr284=) c.855A>C (p.Thr285=) n.79A>C c.*332A>C (p.=) n.758-40A>C c.*340A>C (p.=) c.318A>C (p.Thr106=) | ClinVar dbSNP |
| 14 | g.24240520T= | CA2123849245 | TINF2 | c.960A= (p.Thr320=) c.852A= (p.Thr284=) c.855A= (p.Thr285=) n.79A= c.*332A= (p.=) n.758-40A= c.*340A= (p.=) c.318A= (p.Thr106=) | |
| 14 | g.24240521G>A | CA389224212 | TINF2 | c.959C>T (p.Thr320Ile) c.851C>T (p.Thr284Ile) c.854C>T (p.Thr285Ile) n.78C>T c.*331C>T (p.=) n.758-41C>T c.*339C>T (p.=) c.317C>T (p.Thr106Ile) | |
| 14 | g.24240521G>C | CA389224219 | TINF2 | c.959C>G (p.Thr320Arg) c.851C>G (p.Thr284Arg) c.854C>G (p.Thr285Arg) n.78C>G c.*331C>G (p.=) n.758-41C>G c.*339C>G (p.=) c.317C>G (p.Thr106Arg) | |
| 14 | g.24240521G>T | CA389224223 | TINF2 | c.959C>A (p.Thr320Lys) c.851C>A (p.Thr284Lys) c.854C>A (p.Thr285Lys) n.78C>A c.*331C>A (p.=) n.758-41C>A c.*339C>A (p.=) c.317C>A (p.Thr106Lys) | |
| 14 | g.24240522T>A | CA389224233 | TINF2 | c.958A>T (p.Thr320Ser) c.850A>T (p.Thr284Ser) c.853A>T (p.Thr285Ser) n.77A>T c.*330A>T (p.=) n.758-42A>T c.*338A>T (p.=) c.316A>T (p.Thr106Ser) | |
| 14 | g.24240522T>C | CA389224230 | TINF2 | c.958A>G (p.Thr320Ala) c.850A>G (p.Thr284Ala) c.853A>G (p.Thr285Ala) n.77A>G c.*330A>G (p.=) n.758-42A>G c.*338A>G (p.=) c.316A>G (p.Thr106Ala) | |
| 14 | g.24240522T>G | CA389224228 | TINF2 | c.958A>C (p.Thr320Pro) c.850A>C (p.Thr284Pro) c.853A>C (p.Thr285Pro) n.77A>C c.*330A>C (p.=) n.758-42A>C c.*338A>C (p.=) c.316A>C (p.Thr106Pro) | |
| 14 | g.24240523G>A | CA485782359 | TINF2 | c.957C>T (p.Gly319=) c.849C>T (p.Gly283=) c.852C>T (p.Gly284=) n.76C>T c.*329C>T (p.=) n.758-43C>T c.*337C>T (p.=) c.315C>T (p.Gly105=) | |
| 14 | g.24240523G>C | CA485782360 | TINF2 | c.957C>G (p.Gly319=) c.849C>G (p.Gly283=) c.852C>G (p.Gly284=) n.76C>G c.*329C>G (p.=) n.758-43C>G c.*337C>G (p.=) c.315C>G (p.Gly105=) | |
| 14 | g.24240523G>T | CA485782361 | TINF2 | c.957C>A (p.Gly319=) c.849C>A (p.Gly283=) c.852C>A (p.Gly284=) n.76C>A c.*329C>A (p.=) n.758-43C>A c.*337C>A (p.=) c.315C>A (p.Gly105=) | |
| 14 | g.24240524C>A | CA389224239 | TINF2 | c.956G>T (p.Gly319Val) c.848G>T (p.Gly283Val) c.851G>T (p.Gly284Val) n.75G>T c.*328G>T (p.=) n.758-44G>T c.*336G>T (p.=) c.314G>T (p.Gly105Val) | |
| 14 | g.24240524C>G | CA389224242 | TINF2 | c.956G>C (p.Gly319Ala) c.848G>C (p.Gly283Ala) c.851G>C (p.Gly284Ala) n.75G>C c.*328G>C (p.=) n.758-44G>C c.*336G>C (p.=) c.314G>C (p.Gly105Ala) | |
| 14 | g.24240524C>T | CA389224245 | TINF2 | c.956G>A (p.Gly319Asp) c.848G>A (p.Gly283Asp) c.851G>A (p.Gly284Asp) n.75G>A c.*328G>A (p.=) n.758-44G>A c.*336G>A (p.=) c.314G>A (p.Gly105Asp) | |
| 14 | g.24240525C>A | CA389224248 | TINF2 | c.955G>T (p.Gly319Cys) c.847G>T (p.Gly283Cys) c.850G>T (p.Gly284Cys) n.74G>T c.*327G>T (p.=) n.758-45G>T c.*335G>T (p.=) c.313G>T (p.Gly105Cys) | |
| 14 | g.24240525C>G | CA389224249 | TINF2 | c.955G>C (p.Gly319Arg) c.847G>C (p.Gly283Arg) c.850G>C (p.Gly284Arg) n.74G>C c.*327G>C (p.=) n.758-45G>C c.*335G>C (p.=) c.313G>C (p.Gly105Arg) | |
| 14 | g.24240525C>T | CA389224250 | TINF2 | c.955G>A (p.Gly319Ser) c.847G>A (p.Gly283Ser) c.850G>A (p.Gly284Ser) n.74G>A c.*327G>A (p.=) n.758-45G>A c.*335G>A (p.=) c.313G>A (p.Gly105Ser) | |
| 14 | g.24240526C>A | CA389224274 | TINF2 | c.954G>T (p.Met318Ile) c.846G>T (p.Met282Ile) c.849G>T (p.Met283Ile) n.73G>T c.*326G>T (p.=) n.758-46G>T c.*334G>T (p.=) c.312G>T (p.Met104Ile) | |
| 14 | g.24240526C>G | CA389224256 | TINF2 | c.954G>C (p.Met318Ile) c.846G>C (p.Met282Ile) c.849G>C (p.Met283Ile) n.73G>C c.*326G>C (p.=) n.758-46G>C c.*334G>C (p.=) c.312G>C (p.Met104Ile) | |
| 14 | g.24240526C>T | CA389224264 | TINF2 | c.954G>A (p.Met318Ile) c.846G>A (p.Met282Ile) c.849G>A (p.Met283Ile) n.73G>A c.*326G>A (p.=) n.758-46G>A c.*334G>A (p.=) c.312G>A (p.Met104Ile) | COSMIC COSMIC |
| 14 | g.24240527A= | CA2123849248 | TINF2 | c.953T= (p.Met318=) c.845T= (p.Met282=) c.848T= (p.Met283=) n.72T= c.*325T= (p.=) n.758-47T= c.*333T= (p.=) c.311T= (p.Met104=) | |
| 14 | g.24240527A>C | CA389224283 | TINF2 | c.953T>G (p.Met318Arg) c.845T>G (p.Met282Arg) c.848T>G (p.Met283Arg) n.72T>G c.*325T>G (p.=) n.758-47T>G c.*333T>G (p.=) c.311T>G (p.Met104Arg) | |
| 14 | g.24240527A>G | CA257880894 | TINF2 | c.953T>C (p.Met318Thr) c.845T>C (p.Met282Thr) c.848T>C (p.Met283Thr) n.72T>C c.*325T>C (p.=) n.758-47T>C c.*333T>C (p.=) c.311T>C (p.Met104Thr) | dbSNP |
| 14 | g.24240527A>T | CA389224296 | TINF2 | c.953T>A (p.Met318Lys) c.845T>A (p.Met282Lys) c.848T>A (p.Met283Lys) n.72T>A c.*325T>A (p.=) n.758-47T>A c.*333T>A (p.=) c.311T>A (p.Met104Lys) | |
| 14 | g.24240527_24240528insCAGCAC | CA2566004094 | TINF2 | c.952_953insGTGCTG (p.Met318delinsSerAlaVal) c.844_845insGTGCTG (p.Met282delinsSerAlaVal) c.847_848insGTGCTG (p.Met283delinsSerAlaVal) n.71_72insGTGCTG c.*324_*325insGTGCTG (p.=) n.758-48_758-47insGTGCTG c.*332_*333insGTGCTG (p.=) c.310_311insGTGCTG (p.Met104delinsSerAlaVal) | |
| 14 | g.24240528T>A | CA389224305 | TINF2 | c.952A>T (p.Met318Leu) c.844A>T (p.Met282Leu) c.847A>T (p.Met283Leu) n.71A>T c.*324A>T (p.=) n.758-48A>T c.*332A>T (p.=) c.310A>T (p.Met104Leu) | |
| 14 | g.24240528T>C | CA389224306 | TINF2 | c.952A>G (p.Met318Val) c.844A>G (p.Met282Val) c.847A>G (p.Met283Val) n.71A>G c.*324A>G (p.=) n.758-48A>G c.*332A>G (p.=) c.310A>G (p.Met104Val) | |
| 14 | g.24240528T>G | CA389224308 | TINF2 | c.952A>C (p.Met318Leu) c.844A>C (p.Met282Leu) c.847A>C (p.Met283Leu) n.71A>C c.*324A>C (p.=) n.758-48A>C c.*332A>C (p.=) c.310A>C (p.Met104Leu) |