| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.111997378G>A | CA348231266 | MERTK | c.1506G>A (p.Val502=) c.978G>A (p.Val326=) c.*979G>A (n.*979G>A) n.9G>A c.475G>A (p.Ala159Thr) c.1317G>A (p.Val439=) c.291G>A (p.Val97=) | |
| 2 | g.111997378G>C | CA348231268 | MERTK | c.1506G>C (p.Val502=) c.978G>C (p.Val326=) c.*979G>C (n.*979G>C) n.9G>C c.475G>C (p.Ala159Pro) c.1317G>C (p.Val439=) c.291G>C (p.Val97=) | |
| 2 | g.111997378G>T | CA348231269 | MERTK | c.1506G>T (p.Val502=) c.978G>T (p.Val326=) c.*979G>T (n.*979G>T) n.9G>T c.475G>T (p.Ala159Ser) c.1317G>T (p.Val439=) c.291G>T (p.Val97=) | |
| 2 | g.111997379C>A | CA348231270 | MERTK | c.1507C>A (p.Leu503Ile) c.979C>A (p.Leu327Ile) c.*980C>A (n.*980C>A) n.10C>A c.476C>A (p.Ala159Asp) c.1318C>A (p.Leu440Ile) c.292C>A (p.Leu98Ile) | ClinVar dbSNP |
| 2 | g.111997379C= | CA1279566552 | MERTK | c.1507C= (p.Leu503=) c.979C= (p.Leu327=) c.*980C= (n.*980C=) n.10C= c.476C= (p.Ala159=) c.1318C= (p.Leu440=) c.292C= (p.Leu98=) | |
| 2 | g.111997379C>G | CA348231272 | MERTK | c.1507C>G (p.Leu503Val) c.979C>G (p.Leu327Val) c.*980C>G (n.*980C>G) n.10C>G c.476C>G (p.Ala159Gly) c.1318C>G (p.Leu440Val) c.292C>G (p.Leu98Val) | |
| 2 | g.111997379C>T | CA348231274 | MERTK | c.1507C>T (p.Leu503Phe) c.979C>T (p.Leu327Phe) c.*980C>T (n.*980C>T) n.10C>T c.476C>T (p.Ala159Val) c.1318C>T (p.Leu440Phe) c.292C>T (p.Leu98Phe) | |
| 2 | g.111997380T>A | CA348231279 | MERTK | c.1508T>A (p.Leu503His) c.980T>A (p.Leu327His) c.*981T>A (n.*981T>A) n.11T>A c.477T>A (p.Ala159=) c.1319T>A (p.Leu440His) c.293T>A (p.Leu98His) | |
| 2 | g.111997380T>C | CA348231277 | MERTK | c.1508T>C (p.Leu503Pro) c.980T>C (p.Leu327Pro) c.*981T>C (n.*981T>C) n.11T>C c.477T>C (p.Ala159=) c.1319T>C (p.Leu440Pro) c.293T>C (p.Leu98Pro) | |
| 2 | g.111997380T>G | CA348231276 | MERTK | c.1508T>G (p.Leu503Arg) c.980T>G (p.Leu327Arg) c.*981T>G (n.*981T>G) n.11T>G c.477T>G (p.Ala159=) c.1319T>G (p.Leu440Arg) c.293T>G (p.Leu98Arg) | |
| 2 | g.111997381C>A | CA348231280 | MERTK | c.1509C>A (p.Leu503=) c.981C>A (p.Leu327=) c.*982C>A (n.*982C>A) n.12C>A c.478C>A (p.His160Asn) c.1320C>A (p.Leu440=) c.294C>A (p.Leu98=) | |
| 2 | g.111997381C= | CA1279566553 | MERTK | c.1509C= (p.Leu503=) c.981C= (p.Leu327=) c.*982C= (n.*982C=) n.12C= c.478C= (p.His160=) c.1320C= (p.Leu440=) c.294C= (p.Leu98=) | |
| 2 | g.111997381C>G | CA348231282 | MERTK | c.1509C>G (p.Leu503=) c.981C>G (p.Leu327=) c.*982C>G (n.*982C>G) n.12C>G c.478C>G (p.His160Asp) c.1320C>G (p.Leu440=) c.294C>G (p.Leu98=) | |
| 2 | g.111997381C>T | CA1831449 | MERTK | c.1509C>T (p.Leu503=) c.981C>T (p.Leu327=) c.*982C>T (n.*982C>T) n.12C>T c.478C>T (p.His160Tyr) c.1320C>T (p.Leu440=) c.294C>T (p.Leu98=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.111997382A= | CA1279566554 | MERTK | c.1510A= (p.Ile504=) c.982A= (p.Ile328=) c.*983A= (n.*983A=) n.13A= c.479A= (p.His160=) c.1321A= (p.Ile441=) c.295A= (p.Ile99=) | |
| 2 | g.111997382A>C | CA348231284 | MERTK | c.1510A>C (p.Ile504Leu) c.982A>C (p.Ile328Leu) c.*983A>C (n.*983A>C) n.13A>C c.479A>C (p.His160Pro) c.1321A>C (p.Ile441Leu) c.295A>C (p.Ile99Leu) | |
| 2 | g.111997382A>G | CA1831450 | MERTK | c.1510A>G (p.Ile504Val) c.982A>G (p.Ile328Val) c.*983A>G (n.*983A>G) n.13A>G c.479A>G (p.His160Arg) c.1321A>G (p.Ile441Val) c.295A>G (p.Ile99Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.111997382A>T | CA348231287 | MERTK | c.1510A>T (p.Ile504Phe) c.982A>T (p.Ile328Phe) c.*983A>T (n.*983A>T) n.13A>T c.479A>T (p.His160Leu) c.1321A>T (p.Ile441Phe) c.295A>T (p.Ile99Phe) | |
| 2 | g.111997383T>A | CA348231289 | MERTK | c.1511T>A (p.Ile504Asn) c.983T>A (p.Ile328Asn) c.*984T>A (n.*984T>A) n.14T>A c.480T>A (p.His160Gln) c.1322T>A (p.Ile441Asn) c.296T>A (p.Ile99Asn) | |
| 2 | g.111997383T>C | CA348231290 | MERTK | c.1511T>C (p.Ile504Thr) c.983T>C (p.Ile328Thr) c.*984T>C (n.*984T>C) n.14T>C c.480T>C (p.His160=) c.1322T>C (p.Ile441Thr) c.296T>C (p.Ile99Thr) | |
| 2 | g.111997383T>G | CA348231292 | MERTK | c.1511T>G (p.Ile504Ser) c.983T>G (p.Ile328Ser) c.*984T>G (n.*984T>G) n.14T>G c.480T>G (p.His160Gln) c.1322T>G (p.Ile441Ser) c.296T>G (p.Ile99Ser) | |
| 2 | g.111997383T= | CA1279566555 | MERTK | c.1511T= (p.Ile504=) c.983T= (p.Ile328=) c.*984T= (n.*984T=) n.14T= c.480T= (p.His160=) c.1322T= (p.Ile441=) c.296T= (p.Ile99=) | |
| 2 | g.111997384C>A | CA348231294 | MERTK | c.1512C>A (p.Ile504=) c.984C>A (p.Ile328=) c.*985C>A (n.*985C>A) n.15C>A c.481C>A (p.His161Asn) c.1323C>A (p.Ile441=) c.297C>A (p.Ile99=) | gnomAD v4 |
| 2 | g.111997384C>G | CA348231296 | MERTK | c.1512C>G (p.Ile504Met) c.984C>G (p.Ile328Met) c.*985C>G (n.*985C>G) n.15C>G c.481C>G (p.His161Asp) c.1323C>G (p.Ile441Met) c.297C>G (p.Ile99Met) | gnomAD v4 |
| 2 | g.111997384C>T | CA348231297 | MERTK | c.1512C>T (p.Ile504=) c.984C>T (p.Ile328=) c.*985C>T (n.*985C>T) n.15C>T c.481C>T (p.His161Tyr) c.1323C>T (p.Ile441=) c.297C>T (p.Ile99=) | gnomAD v4 |
| 2 | g.111997385_111997393dup | CA1279566556 | MERTK | c.1513_1521dup (p.Gly507_Cys508insIlePheGly) c.985_993dup (p.Gly331_Cys332insIlePheGly) c.*986_*994dup (n.*986_*994dup) n.16_24dup c.482_490dup (p.Trp163_Leu164insHisLeuTrp) c.1324_1332dup (p.Gly444_Cys445insIlePheGly) c.298_306dup (p.Gly102_Cys103insIlePheGly) | ClinVar dbSNP |
| 2 | g.111997385A= | CA1279566557 | MERTK | c.1513A= (p.Ile505=) c.985A= (p.Ile329=) c.*986A= (n.*986A=) n.16A= c.482A= (p.His161=) c.1324A= (p.Ile442=) c.298A= (p.Ile100=) | |
| 2 | g.111997385A>C | CA348231300 | MERTK | c.1513A>C (p.Ile505Leu) c.985A>C (p.Ile329Leu) c.*986A>C (n.*986A>C) n.16A>C c.482A>C (p.His161Pro) c.1324A>C (p.Ile442Leu) c.298A>C (p.Ile100Leu) | |
| 2 | g.111997385A>G | CA348231299 | MERTK | c.1513A>G (p.Ile505Val) c.985A>G (p.Ile329Val) c.*986A>G (n.*986A>G) n.16A>G c.482A>G (p.His161Arg) c.1324A>G (p.Ile442Val) c.298A>G (p.Ile100Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.111997385A>T | CA348231298 | MERTK | c.1513A>T (p.Ile505Phe) c.985A>T (p.Ile329Phe) c.*986A>T (n.*986A>T) n.16A>T c.482A>T (p.His161Leu) c.1324A>T (p.Ile442Phe) c.298A>T (p.Ile100Phe) | |
| 2 | g.111997386T>A | CA348231301 | MERTK | c.1514T>A (p.Ile505Asn) c.986T>A (p.Ile329Asn) c.*987T>A (n.*987T>A) n.17T>A c.483T>A (p.His161Gln) c.1325T>A (p.Ile442Asn) c.299T>A (p.Ile100Asn) | |
| 2 | g.111997386T>C | CA1831451 | MERTK | c.1514T>C (p.Ile505Thr) c.986T>C (p.Ile329Thr) c.*987T>C (n.*987T>C) n.17T>C c.483T>C (p.His161=) c.1325T>C (p.Ile442Thr) c.299T>C (p.Ile100Thr) | dbSNP ExAC gnomAD v2 |
| 2 | g.111997386T>G | CA348231303 | MERTK | c.1514T>G (p.Ile505Ser) c.986T>G (p.Ile329Ser) c.*987T>G (n.*987T>G) n.17T>G c.483T>G (p.His161Gln) c.1325T>G (p.Ile442Ser) c.299T>G (p.Ile100Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.111997386T= | CA1279566558 | MERTK | c.1514T= (p.Ile505=) c.986T= (p.Ile329=) c.*987T= (n.*987T=) n.17T= c.483T= (p.His161=) c.1325T= (p.Ile442=) c.299T= (p.Ile100=) | |
| 2 | g.111997387C>A | CA348231305 | MERTK | c.1515C>A (p.Ile505=) c.987C>A (p.Ile329=) c.*988C>A (n.*988C>A) n.18C>A c.484C>A (p.Leu162Ile) c.1326C>A (p.Ile442=) c.300C>A (p.Ile100=) | dbSNP gnomAD v4 |
| 2 | g.111997387C= | CA1279566559 | MERTK | c.1515C= (p.Ile505=) c.987C= (p.Ile329=) c.*988C= (n.*988C=) n.18C= c.484C= (p.Leu162=) c.1326C= (p.Ile442=) c.300C= (p.Ile100=) | |
| 2 | g.111997387C>G | CA348231307 | MERTK | c.1515C>G (p.Ile505Met) c.987C>G (p.Ile329Met) c.*988C>G (n.*988C>G) n.18C>G c.484C>G (p.Leu162Val) c.1326C>G (p.Ile442Met) c.300C>G (p.Ile100Met) | |
| 2 | g.111997387C>T | CA348231308 | MERTK | c.1515C>T (p.Ile505=) c.987C>T (p.Ile329=) c.*988C>T (n.*988C>T) n.18C>T c.484C>T (p.Leu162Phe) c.1326C>T (p.Ile442=) c.300C>T (p.Ile100=) | |
| 2 | g.111997388T>A | CA348231310 | MERTK | c.1516T>A (p.Phe506Ile) c.988T>A (p.Phe330Ile) c.*989T>A (n.*989T>A) n.19T>A c.485T>A (p.Leu162His) c.1327T>A (p.Phe443Ile) c.301T>A (p.Phe101Ile) | |
| 2 | g.111997388T>C | CA348231311 | MERTK | c.1516T>C (p.Phe506Leu) c.988T>C (p.Phe330Leu) c.*989T>C (n.*989T>C) n.19T>C c.485T>C (p.Leu162Pro) c.1327T>C (p.Phe443Leu) c.301T>C (p.Phe101Leu) | |
| 2 | g.111997388T>G | CA1831452 | MERTK | c.1516T>G (p.Phe506Val) c.988T>G (p.Phe330Val) c.*989T>G (n.*989T>G) n.19T>G c.485T>G (p.Leu162Arg) c.1327T>G (p.Phe443Val) c.301T>G (p.Phe101Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.111997388T= | CA1279566560 | MERTK | c.1516T= (p.Phe506=) c.988T= (p.Phe330=) c.*989T= (n.*989T=) n.19T= c.485T= (p.Leu162=) c.1327T= (p.Phe443=) c.301T= (p.Phe101=) | |
| 2 | g.111997389T>A | CA348231314 | MERTK | c.1517T>A (p.Phe506Tyr) c.989T>A (p.Phe330Tyr) c.*990T>A (n.*990T>A) n.20T>A c.486T>A (p.Leu162=) c.1328T>A (p.Phe443Tyr) c.302T>A (p.Phe101Tyr) | |
| 2 | g.111997389T>C | CA348231315 | MERTK | c.1517T>C (p.Phe506Ser) c.989T>C (p.Phe330Ser) c.*990T>C (n.*990T>C) n.20T>C c.486T>C (p.Leu162=) c.1328T>C (p.Phe443Ser) c.302T>C (p.Phe101Ser) | |
| 2 | g.111997389T>G | CA348231316 | MERTK | c.1517T>G (p.Phe506Cys) c.989T>G (p.Phe330Cys) c.*990T>G (n.*990T>G) n.20T>G c.486T>G (p.Leu162=) c.1328T>G (p.Phe443Cys) c.302T>G (p.Phe101Cys) | |
| 2 | g.111997390T>A | CA348231322 | MERTK | c.1518T>A (p.Phe506Leu) c.990T>A (p.Phe330Leu) c.*991T>A (n.*991T>A) n.21T>A c.487T>A (p.Trp163Arg) c.1329T>A (p.Phe443Leu) c.303T>A (p.Phe101Leu) | |
| 2 | g.111997390T>C | CA348231320 | MERTK | c.1518T>C (p.Phe506=) c.990T>C (p.Phe330=) c.*991T>C (n.*991T>C) n.21T>C c.487T>C (p.Trp163Arg) c.1329T>C (p.Phe443=) c.303T>C (p.Phe101=) | |
| 2 | g.111997390T>G | CA348231319 | MERTK | c.1518T>G (p.Phe506Leu) c.990T>G (p.Phe330Leu) c.*991T>G (n.*991T>G) n.21T>G c.487T>G (p.Trp163Gly) c.1329T>G (p.Phe443Leu) c.303T>G (p.Phe101Leu) | |
| 2 | g.111997391G>A | CA348231323 | MERTK | c.1519G>A (p.Gly507Ser) c.991G>A (p.Gly331Ser) c.*992G>A (n.*992G>A) n.22G>A c.488G>A (p.Trp163Ter) c.1330G>A (p.Gly444Ser) c.304G>A (p.Gly102Ser) | |
| 2 | g.111997391G>C | CA348231327 | MERTK | c.1519G>C (p.Gly507Arg) c.991G>C (p.Gly331Arg) c.*992G>C (n.*992G>C) n.22G>C c.488G>C (p.Trp163Ser) c.1330G>C (p.Gly444Arg) c.304G>C (p.Gly102Arg) |