Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.112008381A>C | CA348233042 | MERTK | c.1868-2A>C (n.1868-2A>C) c.1340-2A>C (n.1340-2A>C) c.*1341-2A>C (n.*1341-2A>C) c.833-2A>C (n.833-2A>C) c.1679-2A>C (n.1679-2A>C) c.653-2A>C (n.653-2A>C) | |
2 | g.112008381A>G | CA348233044 | MERTK | c.1868-2A>G (n.1868-2A>G) c.1340-2A>G (n.1340-2A>G) c.*1341-2A>G (n.*1341-2A>G) c.833-2A>G (n.833-2A>G) c.1679-2A>G (n.1679-2A>G) c.653-2A>G (n.653-2A>G) | |
2 | g.112008381A>T | CA348233046 | MERTK | c.1868-2A>T (n.1868-2A>T) c.1340-2A>T (n.1340-2A>T) c.*1341-2A>T (n.*1341-2A>T) c.833-2A>T (n.833-2A>T) c.1679-2A>T (n.1679-2A>T) c.653-2A>T (n.653-2A>T) | |
2 | g.112008382G>A | CA348233050 | MERTK | c.1868-1G>A (n.1868-1G>A) c.1340-1G>A (n.1340-1G>A) c.*1341-1G>A (n.*1341-1G>A) c.833-1G>A (n.833-1G>A) c.1679-1G>A (n.1679-1G>A) c.653-1G>A (n.653-1G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.112008382G>C | CA348233052 | MERTK | c.1868-1G>C (n.1868-1G>C) c.1340-1G>C (n.1340-1G>C) c.*1341-1G>C (n.*1341-1G>C) c.833-1G>C (n.833-1G>C) c.1679-1G>C (n.1679-1G>C) c.653-1G>C (n.653-1G>C) | |
2 | g.112008382G>T | CA348233054 | MERTK | c.1868-1G>T (n.1868-1G>T) c.1340-1G>T (n.1340-1G>T) c.*1341-1G>T (n.*1341-1G>T) c.833-1G>T (n.833-1G>T) c.1679-1G>T (n.1679-1G>T) c.653-1G>T (n.653-1G>T) | |
2 | g.112008383T>A | CA348233056 | MERTK | c.1868T>A (p.Leu623Ter) c.1340T>A (p.Leu447Ter) c.*1341T>A (n.*1341T>A) c.833T>A (p.Leu278Ter) c.1679T>A (p.Leu560Ter) c.653T>A (p.Leu218Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.112008383T>C | CA1831578 | MERTK | c.1868T>C (p.Leu623Ser) c.1340T>C (p.Leu447Ser) c.*1341T>C (n.*1341T>C) c.833T>C (p.Leu278Ser) c.1679T>C (p.Leu560Ser) c.653T>C (p.Leu218Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.112008383T>G | CA348233058 | MERTK | c.1868T>G (p.Leu623Trp) c.1340T>G (p.Leu447Trp) c.*1341T>G (n.*1341T>G) c.833T>G (p.Leu278Trp) c.1679T>G (p.Leu560Trp) c.653T>G (p.Leu218Trp) | |
2 | g.112008383T= | CA1279571228 | MERTK | c.1868T= (p.Leu623=) c.1340T= (p.Leu447=) c.*1341T= (n.*1341T=) c.833T= (p.Leu278=) c.1679T= (p.Leu560=) c.653T= (p.Leu218=) | |
2 | g.112008384G>A | CA428275200 | MERTK | c.1869G>A (p.Leu623=) c.1341G>A (p.Leu447=) c.*1342G>A (n.*1342G>A) c.834G>A (p.Leu278=) c.1680G>A (p.Leu560=) c.654G>A (p.Leu218=) | gnomAD v4 |
2 | g.112008384G>C | CA348233061 | MERTK | c.1869G>C (p.Leu623Phe) c.1341G>C (p.Leu447Phe) c.*1342G>C (n.*1342G>C) c.834G>C (p.Leu278Phe) c.1680G>C (p.Leu560Phe) c.654G>C (p.Leu218Phe) | |
2 | g.112008384G>T | CA348233062 | MERTK | c.1869G>T (p.Leu623Phe) c.1341G>T (p.Leu447Phe) c.*1342G>T (n.*1342G>T) c.834G>T (p.Leu278Phe) c.1680G>T (p.Leu560Phe) c.654G>T (p.Leu218Phe) | |
2 | g.112008385del | CA2577070607 | MERTK | c.1870del (p.Asp624ThrfsTer18) c.1342del (p.Asp448ThrfsTer18) c.*1343del (n.*1343del) c.835del (p.Asp279ThrfsTer18) c.1681del (p.Asp561ThrfsTer18) c.655del (p.Asp219ThrfsTer18) | gnomAD v4 |
2 | g.112008385G>A | CA348233064 | MERTK | c.1870G>A (p.Asp624Asn) c.1342G>A (p.Asp448Asn) c.*1343G>A (n.*1343G>A) c.835G>A (p.Asp279Asn) c.1681G>A (p.Asp561Asn) c.655G>A (p.Asp219Asn) | |
2 | g.112008385G>C | CA348233065 | MERTK | c.1870G>C (p.Asp624His) c.1342G>C (p.Asp448His) c.*1343G>C (n.*1343G>C) c.835G>C (p.Asp279His) c.1681G>C (p.Asp561His) c.655G>C (p.Asp219His) | ClinVar dbSNP gnomAD v4 |
2 | g.112008385G= | CA1279571229 | MERTK | c.1870G= (p.Asp624=) c.1342G= (p.Asp448=) c.*1343G= (n.*1343G=) c.835G= (p.Asp279=) c.1681G= (p.Asp561=) c.655G= (p.Asp219=) | |
2 | g.112008385G>T | CA348233067 | MERTK | c.1870G>T (p.Asp624Tyr) c.1342G>T (p.Asp448Tyr) c.*1343G>T (n.*1343G>T) c.835G>T (p.Asp279Tyr) c.1681G>T (p.Asp561Tyr) c.655G>T (p.Asp219Tyr) | |
2 | g.112008386A>C | CA348233070 | MERTK | c.1871A>C (p.Asp624Ala) c.1343A>C (p.Asp448Ala) c.*1344A>C (n.*1344A>C) c.836A>C (p.Asp279Ala) c.1682A>C (p.Asp561Ala) c.656A>C (p.Asp219Ala) | |
2 | g.112008386A>G | CA348233071 | MERTK | c.1871A>G (p.Asp624Gly) c.1343A>G (p.Asp448Gly) c.*1344A>G (n.*1344A>G) c.836A>G (p.Asp279Gly) c.1682A>G (p.Asp561Gly) c.656A>G (p.Asp219Gly) | gnomAD v4 |
2 | g.112008386A>T | CA348233073 | MERTK | c.1871A>T (p.Asp624Val) c.1343A>T (p.Asp448Val) c.*1344A>T (n.*1344A>T) c.836A>T (p.Asp279Val) c.1682A>T (p.Asp561Val) c.656A>T (p.Asp219Val) | |
2 | g.112008387C>A | CA348233075 | MERTK | c.1872C>A (p.Asp624Glu) c.1344C>A (p.Asp448Glu) c.*1345C>A (n.*1345C>A) c.837C>A (p.Asp279Glu) c.1683C>A (p.Asp561Glu) c.657C>A (p.Asp219Glu) | |
2 | g.112008387C= | CA1279571230 | MERTK | c.1872C= (p.Asp624=) c.1344C= (p.Asp448=) c.*1345C= (n.*1345C=) c.837C= (p.Asp279=) c.1683C= (p.Asp561=) c.657C= (p.Asp219=) | |
2 | g.112008387C>G | CA1831579 | MERTK | c.1872C>G (p.Asp624Glu) c.1344C>G (p.Asp448Glu) c.*1345C>G (n.*1345C>G) c.837C>G (p.Asp279Glu) c.1683C>G (p.Asp561Glu) c.657C>G (p.Asp219Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.112008387C>T | CA428275202 | MERTK | c.1872C>T (p.Asp624=) c.1344C>T (p.Asp448=) c.*1345C>T (n.*1345C>T) c.837C>T (p.Asp279=) c.1683C>T (p.Asp561=) c.657C>T (p.Asp219=) | |
2 | g.112008387dup | CA2660690111 | MERTK | c.1872dup (p.Asn625GlnfsTer13) c.1344dup (p.Asn449GlnfsTer13) c.*1345dup (n.*1345dup) c.837dup (p.Asn280GlnfsTer13) c.1683dup (p.Asn562GlnfsTer13) c.657dup (p.Asn220GlnfsTer13) | gnomAD v4 |
2 | g.112008388A>C | CA348233077 | MERTK | c.1873A>C (p.Asn625His) c.1345A>C (p.Asn449His) c.*1346A>C (n.*1346A>C) c.838A>C (p.Asn280His) c.1684A>C (p.Asn562His) c.658A>C (p.Asn220His) | |
2 | g.112008388A>G | CA348233078 | MERTK | c.1873A>G (p.Asn625Asp) c.1345A>G (p.Asn449Asp) c.*1346A>G (n.*1346A>G) c.838A>G (p.Asn280Asp) c.1684A>G (p.Asn562Asp) c.658A>G (p.Asn220Asp) | |
2 | g.112008388A>T | CA348233079 | MERTK | c.1873A>T (p.Asn625Tyr) c.1345A>T (p.Asn449Tyr) c.*1346A>T (n.*1346A>T) c.838A>T (p.Asn280Tyr) c.1684A>T (p.Asn562Tyr) c.658A>T (p.Asn220Tyr) | |
2 | g.112008389A= | CA1279571231 | MERTK | c.1874A= (p.Asn625=) c.1346A= (p.Asn449=) c.*1347A= (n.*1347A=) c.839A= (p.Asn280=) c.1685A= (p.Asn562=) c.659A= (p.Asn220=) | |
2 | g.112008389A>C | CA1831581 | MERTK | c.1874A>C (p.Asn625Thr) c.1346A>C (p.Asn449Thr) c.*1347A>C (n.*1347A>C) c.839A>C (p.Asn280Thr) c.1685A>C (p.Asn562Thr) c.659A>C (p.Asn220Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.112008389A>G | CA1831580 | MERTK | c.1874A>G (p.Asn625Ser) c.1346A>G (p.Asn449Ser) c.*1347A>G (n.*1347A>G) c.839A>G (p.Asn280Ser) c.1685A>G (p.Asn562Ser) c.659A>G (p.Asn220Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.112008389A>T | CA348233081 | MERTK | c.1874A>T (p.Asn625Ile) c.1346A>T (p.Asn449Ile) c.*1347A>T (n.*1347A>T) c.839A>T (p.Asn280Ile) c.1685A>T (p.Asn562Ile) c.659A>T (p.Asn220Ile) | |
2 | g.112008390C>A | CA348233084 | MERTK | c.1875C>A (p.Asn625Lys) c.1347C>A (p.Asn449Lys) c.*1348C>A (n.*1348C>A) c.840C>A (p.Asn280Lys) c.1686C>A (p.Asn562Lys) c.660C>A (p.Asn220Lys) | |
2 | g.112008390C>G | CA348233087 | MERTK | c.1875C>G (p.Asn625Lys) c.1347C>G (p.Asn449Lys) c.*1348C>G (n.*1348C>G) c.840C>G (p.Asn280Lys) c.1686C>G (p.Asn562Lys) c.660C>G (p.Asn220Lys) | |
2 | g.112008390C>T | CA428275203 | MERTK | c.1875C>T (p.Asn625=) c.1347C>T (p.Asn449=) c.*1348C>T (n.*1348C>T) c.840C>T (p.Asn280=) c.1686C>T (p.Asn562=) c.660C>T (p.Asn220=) | |
2 | g.112008391T>A | CA348233094 | MERTK | c.1876T>A (p.Ser626Thr) c.1348T>A (p.Ser450Thr) c.*1349T>A (n.*1349T>A) c.841T>A (p.Ser281Thr) c.1687T>A (p.Ser563Thr) c.661T>A (p.Ser221Thr) | |
2 | g.112008391T>C | CA348233095 | MERTK | c.1876T>C (p.Ser626Pro) c.1348T>C (p.Ser450Pro) c.*1349T>C (n.*1349T>C) c.841T>C (p.Ser281Pro) c.1687T>C (p.Ser563Pro) c.661T>C (p.Ser221Pro) | |
2 | g.112008391T>G | CA348233097 | MERTK | c.1876T>G (p.Ser626Ala) c.1348T>G (p.Ser450Ala) c.*1349T>G (n.*1349T>G) c.841T>G (p.Ser281Ala) c.1687T>G (p.Ser563Ala) c.661T>G (p.Ser221Ala) | |
2 | g.112008392C>A | CA348233098 | MERTK | c.1877C>A (p.Ser626Tyr) c.1349C>A (p.Ser450Tyr) c.*1350C>A (n.*1350C>A) c.842C>A (p.Ser281Tyr) c.1688C>A (p.Ser563Tyr) c.662C>A (p.Ser221Tyr) | |
2 | g.112008392C= | CA1279571232 | MERTK | c.1877C= (p.Ser626=) c.1349C= (p.Ser450=) c.*1350C= (n.*1350C=) c.842C= (p.Ser281=) c.1688C= (p.Ser563=) c.662C= (p.Ser221=) | |
2 | g.112008392C>G | CA348233099 | MERTK | c.1877C>G (p.Ser626Cys) c.1349C>G (p.Ser450Cys) c.*1350C>G (n.*1350C>G) c.842C>G (p.Ser281Cys) c.1688C>G (p.Ser563Cys) c.662C>G (p.Ser221Cys) | dbSNP COSMIC |
2 | g.112008392C>T | CA348233101 | MERTK | c.1877C>T (p.Ser626Phe) c.1349C>T (p.Ser450Phe) c.*1350C>T (n.*1350C>T) c.842C>T (p.Ser281Phe) c.1688C>T (p.Ser563Phe) c.662C>T (p.Ser221Phe) | dbSNP gnomAD v4 |
2 | g.112008393T>A | CA428275204 | MERTK | c.1878T>A (p.Ser626=) c.1350T>A (p.Ser450=) c.*1351T>A (n.*1351T>A) c.843T>A (p.Ser281=) c.1689T>A (p.Ser563=) c.663T>A (p.Ser221=) | |
2 | g.112008393T>C | CA428275205 | MERTK | c.1878T>C (p.Ser626=) c.1350T>C (p.Ser450=) c.*1351T>C (n.*1351T>C) c.843T>C (p.Ser281=) c.1689T>C (p.Ser563=) c.663T>C (p.Ser221=) | |
2 | g.112008393T>G | CA428275206 | MERTK | c.1878T>G (p.Ser626=) c.1350T>G (p.Ser450=) c.*1351T>G (n.*1351T>G) c.843T>G (p.Ser281=) c.1689T>G (p.Ser563=) c.663T>G (p.Ser221=) | |
2 | g.112008394T>A | CA348233103 | MERTK | c.1879T>A (p.Ser627Thr) c.1351T>A (p.Ser451Thr) c.*1352T>A (n.*1352T>A) c.844T>A (p.Ser282Thr) c.1690T>A (p.Ser564Thr) c.664T>A (p.Ser222Thr) | |
2 | g.112008394T>C | CA348233105 | MERTK | c.1879T>C (p.Ser627Pro) c.1351T>C (p.Ser451Pro) c.*1352T>C (n.*1352T>C) c.844T>C (p.Ser282Pro) c.1690T>C (p.Ser564Pro) c.664T>C (p.Ser222Pro) | |
2 | g.112008394T>G | CA348233106 | MERTK | c.1879T>G (p.Ser627Ala) c.1351T>G (p.Ser451Ala) c.*1352T>G (n.*1352T>G) c.844T>G (p.Ser282Ala) c.1690T>G (p.Ser564Ala) c.664T>G (p.Ser222Ala) | |
2 | g.112008395C>A | CA1831583 | MERTK | c.1880C>A (p.Ser627Ter) c.1352C>A (p.Ser451Ter) c.*1353C>A (n.*1353C>A) c.845C>A (p.Ser282Ter) c.1691C>A (p.Ser564Ter) c.665C>A (p.Ser222Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.112008395C= | CA1279571233 | MERTK | c.1880C= (p.Ser627=) c.1352C= (p.Ser451=) c.*1353C= (n.*1353C=) c.845C= (p.Ser282=) c.1691C= (p.Ser564=) c.665C= (p.Ser222=) | |
2 | g.112008395C>G | CA348233111 | MERTK | c.1880C>G (p.Ser627Ter) c.1352C>G (p.Ser451Ter) c.*1353C>G (n.*1353C>G) c.845C>G (p.Ser282Ter) c.1691C>G (p.Ser564Ter) c.665C>G (p.Ser222Ter) | |
2 | g.112008395C>T | CA1831582 | MERTK | c.1880C>T (p.Ser627Leu) c.1352C>T (p.Ser451Leu) c.*1353C>T (n.*1353C>T) c.845C>T (p.Ser282Leu) c.1691C>T (p.Ser564Leu) c.665C>T (p.Ser222Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.112008395_112008396delinsTG | CA2580063748 | MERTK | c.1880_1881delinsTG (p.Ser627Leu) c.1352_1353delinsTG (p.Ser451Leu) c.*1353_*1354delinsTG (n.*1353_*1354delinsTG) c.845_846delinsTG (p.Ser282Leu) c.1691_1692delinsTG (p.Ser564Leu) c.665_666delinsTG (p.Ser222Leu) | ClinVar |
2 | g.112008396A= | CA1279571234 | MERTK | c.1881A= (p.Ser627=) c.1353A= (p.Ser451=) c.*1354A= (n.*1354A=) c.846A= (p.Ser282=) c.1692A= (p.Ser564=) c.666A= (p.Ser222=) | |
2 | g.112008396A>C | CA428275207 | MERTK | c.1881A>C (p.Ser627=) c.1353A>C (p.Ser451=) c.*1354A>C (n.*1354A>C) c.846A>C (p.Ser282=) c.1692A>C (p.Ser564=) c.666A>C (p.Ser222=) | gnomAD v4 |
2 | g.112008396A>G | CA1831584 | MERTK | c.1881A>G (p.Ser627=) c.1353A>G (p.Ser451=) c.*1354A>G (n.*1354A>G) c.846A>G (p.Ser282=) c.1692A>G (p.Ser564=) c.666A>G (p.Ser222=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.112008396A>T | CA428275208 | MERTK | c.1881A>T (p.Ser627=) c.1353A>T (p.Ser451=) c.*1354A>T (n.*1354A>T) c.846A>T (p.Ser282=) c.1692A>T (p.Ser564=) c.666A>T (p.Ser222=) | dbSNP |
2 | g.112008397C>A | CA348233117 | MERTK | c.1882C>A (p.Gln628Lys) c.1354C>A (p.Gln452Lys) c.*1355C>A (n.*1355C>A) c.847C>A (p.Gln283Lys) c.1693C>A (p.Gln565Lys) c.667C>A (p.Gln223Lys) | |
2 | g.112008397C>G | CA348233114 | MERTK | c.1882C>G (p.Gln628Glu) c.1354C>G (p.Gln452Glu) c.*1355C>G (n.*1355C>G) c.847C>G (p.Gln283Glu) c.1693C>G (p.Gln565Glu) c.667C>G (p.Gln223Glu) | |
2 | g.112008397C>T | CA348233116 | MERTK | c.1882C>T (p.Gln628Ter) c.1354C>T (p.Gln452Ter) c.*1355C>T (n.*1355C>T) c.847C>T (p.Gln283Ter) c.1693C>T (p.Gln565Ter) c.667C>T (p.Gln223Ter) | |
2 | g.112008398A>C | CA348233118 | MERTK | c.1883A>C (p.Gln628Pro) c.1355A>C (p.Gln452Pro) c.*1356A>C (n.*1356A>C) c.848A>C (p.Gln283Pro) c.1694A>C (p.Gln565Pro) c.668A>C (p.Gln223Pro) | |
2 | g.112008398A>G | CA348233120 | MERTK | c.1883A>G (p.Gln628Arg) c.1355A>G (p.Gln452Arg) c.*1356A>G (n.*1356A>G) c.848A>G (p.Gln283Arg) c.1694A>G (p.Gln565Arg) c.668A>G (p.Gln223Arg) | |
2 | g.112008398A>T | CA348233121 | MERTK | c.1883A>T (p.Gln628Leu) c.1355A>T (p.Gln452Leu) c.*1356A>T (n.*1356A>T) c.848A>T (p.Gln283Leu) c.1694A>T (p.Gln565Leu) c.668A>T (p.Gln223Leu) | |
2 | g.112008399G>A | CA428275209 | MERTK | c.1884G>A (p.Gln628=) c.1356G>A (p.Gln452=) c.*1357G>A (n.*1357G>A) c.849G>A (p.Gln283=) c.1695G>A (p.Gln565=) c.669G>A (p.Gln223=) | gnomAD v4 |
2 | g.112008399G>C | CA348233122 | MERTK | c.1884G>C (p.Gln628His) c.1356G>C (p.Gln452His) c.*1357G>C (n.*1357G>C) c.849G>C (p.Gln283His) c.1695G>C (p.Gln565His) c.669G>C (p.Gln223His) | |
2 | g.112008399G>T | CA348233123 | MERTK | c.1884G>T (p.Gln628His) c.1356G>T (p.Gln452His) c.*1357G>T (n.*1357G>T) c.849G>T (p.Gln283His) c.1695G>T (p.Gln565His) c.669G>T (p.Gln223His) | |
2 | g.112008400C>A | CA428275210 | MERTK | c.1885C>A (p.Arg629=) c.1357C>A (p.Arg453=) c.*1358C>A (n.*1358C>A) c.850C>A (p.Arg284=) c.1696C>A (p.Arg566=) c.670C>A (p.Arg224=) | gnomAD v2 |
2 | g.112008400C= | CA1279571235 | MERTK | c.1885C= (p.Arg629=) c.1357C= (p.Arg453=) c.*1358C= (n.*1358C=) c.850C= (p.Arg284=) c.1696C= (p.Arg566=) c.670C= (p.Arg224=) | |
2 | g.112008400C>G | CA348233125 | MERTK | c.1885C>G (p.Arg629Gly) c.1357C>G (p.Arg453Gly) c.*1358C>G (n.*1358C>G) c.850C>G (p.Arg284Gly) c.1696C>G (p.Arg566Gly) c.670C>G (p.Arg224Gly) | |
2 | g.112008400C>T | CA1831585 | MERTK | c.1885C>T (p.Arg629Trp) c.1357C>T (p.Arg453Trp) c.*1358C>T (n.*1358C>T) c.850C>T (p.Arg284Trp) c.1696C>T (p.Arg566Trp) c.670C>T (p.Arg224Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.112008400_112008401delinsCG | CA1279571236 | MERTK | c.1885_1886delinsCG (p.Arg629=) c.1357_1358delinsCG (p.Arg453=) c.*1358_*1359delinsCG (n.*1358_*1359delinsCG) c.850_851delinsCG (p.Arg284=) c.1696_1697delinsCG (p.Arg566=) c.670_671delinsCG (p.Arg224=) | |
2 | g.112008401G>A | CA348233127 | MERTK | c.1886G>A (p.Arg629Gln) c.1358G>A (p.Arg453Gln) c.*1359G>A (n.*1359G>A) c.851G>A (p.Arg284Gln) c.1697G>A (p.Arg566Gln) c.671G>A (p.Arg224Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.112008401G>C | CA348233129 | MERTK | c.1886G>C (p.Arg629Pro) c.1358G>C (p.Arg453Pro) c.*1359G>C (n.*1359G>C) c.851G>C (p.Arg284Pro) c.1697G>C (p.Arg566Pro) c.671G>C (p.Arg224Pro) | |
2 | g.112008401G= | CA1279571237 | MERTK | c.1886G= (p.Arg629=) c.1358G= (p.Arg453=) c.*1359G= (n.*1359G=) c.851G= (p.Arg284=) c.1697G= (p.Arg566=) c.671G= (p.Arg224=) | |
2 | g.112008401G>T | CA348233131 | MERTK | c.1886G>T (p.Arg629Leu) c.1358G>T (p.Arg453Leu) c.*1359G>T (n.*1359G>T) c.851G>T (p.Arg284Leu) c.1697G>T (p.Arg566Leu) c.671G>T (p.Arg224Leu) | COSMIC COSMIC |
2 | g.112008403del | CA535187004 | MERTK | c.1888del (p.Glu630ArgfsTer12) c.1360del (p.Glu454ArgfsTer12) c.*1361del (n.*1361del) c.853del (p.Glu285ArgfsTer12) c.1699del (p.Glu567ArgfsTer12) c.673del (p.Glu225ArgfsTer12) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.112008402G>A | CA428275213 | MERTK | c.1887G>A (p.Arg629=) c.1359G>A (p.Arg453=) c.*1360G>A (n.*1360G>A) c.852G>A (p.Arg284=) c.1698G>A (p.Arg566=) c.672G>A (p.Arg224=) | |
2 | g.112008402G>C | CA428275211 | MERTK | c.1887G>C (p.Arg629=) c.1359G>C (p.Arg453=) c.*1360G>C (n.*1360G>C) c.852G>C (p.Arg284=) c.1698G>C (p.Arg566=) c.672G>C (p.Arg224=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.112008402G= | CA1279571238 | MERTK | c.1887G= (p.Arg629=) c.1359G= (p.Arg453=) c.*1360G= (n.*1360G=) c.852G= (p.Arg284=) c.1698G= (p.Arg566=) c.672G= (p.Arg224=) | |
2 | g.112008402G>T | CA428275212 | MERTK | c.1887G>T (p.Arg629=) c.1359G>T (p.Arg453=) c.*1360G>T (n.*1360G>T) c.852G>T (p.Arg284=) c.1698G>T (p.Arg566=) c.672G>T (p.Arg224=) | gnomAD v4 |
2 | g.112008403G>A | CA348233133 | MERTK | c.1888G>A (p.Glu630Lys) c.1360G>A (p.Glu454Lys) c.*1361G>A (n.*1361G>A) c.853G>A (p.Glu285Lys) c.1699G>A (p.Glu567Lys) c.673G>A (p.Glu225Lys) | gnomAD v4 |
2 | g.112008403G>C | CA348233134 | MERTK | c.1888G>C (p.Glu630Gln) c.1360G>C (p.Glu454Gln) c.*1361G>C (n.*1361G>C) c.853G>C (p.Glu285Gln) c.1699G>C (p.Glu567Gln) c.673G>C (p.Glu225Gln) | |
2 | g.112008403G>T | CA348233135 | MERTK | c.1888G>T (p.Glu630Ter) c.1360G>T (p.Glu454Ter) c.*1361G>T (n.*1361G>T) c.853G>T (p.Glu285Ter) c.1699G>T (p.Glu567Ter) c.673G>T (p.Glu225Ter) | |
2 | g.112008404A= | CA1279571239 | MERTK | c.1889A= (p.Glu630=) c.1361A= (p.Glu454=) c.*1362A= (n.*1362A=) c.854A= (p.Glu285=) c.1700A= (p.Glu567=) c.674A= (p.Glu225=) | |
2 | g.112008404A>C | CA348233141 | MERTK | c.1889A>C (p.Glu630Ala) c.1361A>C (p.Glu454Ala) c.*1362A>C (n.*1362A>C) c.854A>C (p.Glu285Ala) c.1700A>C (p.Glu567Ala) c.674A>C (p.Glu225Ala) | |
2 | g.112008404A>G | CA348233138 | MERTK | c.1889A>G (p.Glu630Gly) c.1361A>G (p.Glu454Gly) c.*1362A>G (n.*1362A>G) c.854A>G (p.Glu285Gly) c.1700A>G (p.Glu567Gly) c.674A>G (p.Glu225Gly) | |
2 | g.112008404A>T | CA348233139 | MERTK | c.1889A>T (p.Glu630Val) c.1361A>T (p.Glu454Val) c.*1362A>T (n.*1362A>T) c.854A>T (p.Glu285Val) c.1700A>T (p.Glu567Val) c.674A>T (p.Glu225Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.112008405G>A | CA428275214 | MERTK | c.1890G>A (p.Glu630=) c.1362G>A (p.Glu454=) c.*1363G>A (n.*1363G>A) c.855G>A (p.Glu285=) c.1701G>A (p.Glu567=) c.675G>A (p.Glu225=) | |
2 | g.112008405G>C | CA348233143 | MERTK | c.1890G>C (p.Glu630Asp) c.1362G>C (p.Glu454Asp) c.*1363G>C (n.*1363G>C) c.855G>C (p.Glu285Asp) c.1701G>C (p.Glu567Asp) c.675G>C (p.Glu225Asp) | |
2 | g.112008405G>T | CA348233144 | MERTK | c.1890G>T (p.Glu630Asp) c.1362G>T (p.Glu454Asp) c.*1363G>T (n.*1363G>T) c.855G>T (p.Glu285Asp) c.1701G>T (p.Glu567Asp) c.675G>T (p.Glu225Asp) | |
2 | g.112008406A>C | CA348233147 | MERTK | c.1891A>C (p.Ile631Leu) c.1363A>C (p.Ile455Leu) c.*1364A>C (n.*1364A>C) c.856A>C (p.Ile286Leu) c.1702A>C (p.Ile568Leu) c.676A>C (p.Ile226Leu) | |
2 | g.112008406A>G | CA348233148 | MERTK | c.1891A>G (p.Ile631Val) c.1363A>G (p.Ile455Val) c.*1364A>G (n.*1364A>G) c.856A>G (p.Ile286Val) c.1702A>G (p.Ile568Val) c.676A>G (p.Ile226Val) | |
2 | g.112008406A>T | CA348233149 | MERTK | c.1891A>T (p.Ile631Phe) c.1363A>T (p.Ile455Phe) c.*1364A>T (n.*1364A>T) c.856A>T (p.Ile286Phe) c.1702A>T (p.Ile568Phe) c.676A>T (p.Ile226Phe) | |
2 | g.112008407T>A | CA348233151 | MERTK | c.1892T>A (p.Ile631Asn) c.1364T>A (p.Ile455Asn) c.*1365T>A (n.*1365T>A) c.857T>A (p.Ile286Asn) c.1703T>A (p.Ile568Asn) c.677T>A (p.Ile226Asn) | |
2 | g.112008407T>C | CA348233153 | MERTK | c.1892T>C (p.Ile631Thr) c.1364T>C (p.Ile455Thr) c.*1365T>C (n.*1365T>C) c.857T>C (p.Ile286Thr) c.1703T>C (p.Ile568Thr) c.677T>C (p.Ile226Thr) | |
2 | g.112008407T>G | CA348233155 | MERTK | c.1892T>G (p.Ile631Ser) c.1364T>G (p.Ile455Ser) c.*1365T>G (n.*1365T>G) c.857T>G (p.Ile286Ser) c.1703T>G (p.Ile568Ser) c.677T>G (p.Ile226Ser) | |
2 | g.112008408C>A | CA428275215 | MERTK | c.1893C>A (p.Ile631=) c.1365C>A (p.Ile455=) c.*1366C>A (n.*1366C>A) c.858C>A (p.Ile286=) c.1704C>A (p.Ile568=) c.678C>A (p.Ile226=) | gnomAD v4 |
2 | g.112008408C= | CA1279571240 | MERTK | c.1893C= (p.Ile631=) c.1365C= (p.Ile455=) c.*1366C= (n.*1366C=) c.858C= (p.Ile286=) c.1704C= (p.Ile568=) c.678C= (p.Ile226=) | |
2 | g.112008408C>G | CA348233157 | MERTK | c.1893C>G (p.Ile631Met) c.1365C>G (p.Ile455Met) c.*1366C>G (n.*1366C>G) c.858C>G (p.Ile286Met) c.1704C>G (p.Ile568Met) c.678C>G (p.Ile226Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.112008408C>T | CA1831586 | MERTK | c.1893C>T (p.Ile631=) c.1365C>T (p.Ile455=) c.*1366C>T (n.*1366C>T) c.858C>T (p.Ile286=) c.1704C>T (p.Ile568=) c.678C>T (p.Ile226=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.112008409G>A | CA222925 | MERTK | c.1894G>A (p.Glu632Lys) c.1366G>A (p.Glu456Lys) c.*1367G>A (n.*1367G>A) c.859G>A (p.Glu287Lys) c.1705G>A (p.Glu569Lys) c.679G>A (p.Glu227Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.112008409G>C | CA348233161 | MERTK | c.1894G>C (p.Glu632Gln) c.1366G>C (p.Glu456Gln) c.*1367G>C (n.*1367G>C) c.859G>C (p.Glu287Gln) c.1705G>C (p.Glu569Gln) c.679G>C (p.Glu227Gln) | |
2 | g.112008409G= | CA1279571241 | MERTK | c.1894G= (p.Glu632=) c.1366G= (p.Glu456=) c.*1367G= (n.*1367G=) c.859G= (p.Glu287=) c.1705G= (p.Glu569=) c.679G= (p.Glu227=) | |
2 | g.112008409G>T | CA348233163 | MERTK | c.1894G>T (p.Glu632Ter) c.1366G>T (p.Glu456Ter) c.*1367G>T (n.*1367G>T) c.859G>T (p.Glu287Ter) c.1705G>T (p.Glu569Ter) c.679G>T (p.Glu227Ter) | |
2 | g.112008410A>C | CA348233165 | MERTK | c.1895A>C (p.Glu632Ala) c.1367A>C (p.Glu456Ala) c.*1368A>C (n.*1368A>C) c.860A>C (p.Glu287Ala) c.1706A>C (p.Glu569Ala) c.680A>C (p.Glu227Ala) | |
2 | g.112008410A>G | CA348233167 | MERTK | c.1895A>G (p.Glu632Gly) c.1367A>G (p.Glu456Gly) c.*1368A>G (n.*1368A>G) c.860A>G (p.Glu287Gly) c.1706A>G (p.Glu569Gly) c.680A>G (p.Glu227Gly) | |
2 | g.112008410A>T | CA348233166 | MERTK | c.1895A>T (p.Glu632Val) c.1367A>T (p.Glu456Val) c.*1368A>T (n.*1368A>T) c.860A>T (p.Glu287Val) c.1706A>T (p.Glu569Val) c.680A>T (p.Glu227Val) | |
2 | g.112008411G>A | CA428275216 | MERTK | c.1896G>A (p.Glu632=) c.1368G>A (p.Glu456=) c.*1369G>A (n.*1369G>A) c.861G>A (p.Glu287=) c.1707G>A (p.Glu569=) c.681G>A (p.Glu227=) | |
2 | g.112008411G>C | CA348233169 | MERTK | c.1896G>C (p.Glu632Asp) c.1368G>C (p.Glu456Asp) c.*1369G>C (n.*1369G>C) c.861G>C (p.Glu287Asp) c.1707G>C (p.Glu569Asp) c.681G>C (p.Glu227Asp) | |
2 | g.112008411G>T | CA348233171 | MERTK | c.1896G>T (p.Glu632Asp) c.1368G>T (p.Glu456Asp) c.*1369G>T (n.*1369G>T) c.861G>T (p.Glu287Asp) c.1707G>T (p.Glu569Asp) c.681G>T (p.Glu227Asp) | |
2 | g.112008412G>A | CA348233173 | MERTK | c.1897G>A (p.Glu633Lys) c.1369G>A (p.Glu457Lys) c.*1370G>A (n.*1370G>A) c.862G>A (p.Glu288Lys) c.1708G>A (p.Glu570Lys) c.682G>A (p.Glu228Lys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.112008412G>C | CA348233179 | MERTK | c.1897G>C (p.Glu633Gln) c.1369G>C (p.Glu457Gln) c.*1370G>C (n.*1370G>C) c.862G>C (p.Glu288Gln) c.1708G>C (p.Glu570Gln) c.682G>C (p.Glu228Gln) | |
2 | g.112008412G= | CA1279571242 | MERTK | c.1897G= (p.Glu633=) c.1369G= (p.Glu457=) c.*1370G= (n.*1370G=) c.862G= (p.Glu288=) c.1708G= (p.Glu570=) c.682G= (p.Glu228=) | |
2 | g.112008412G>T | CA348233181 | MERTK | c.1897G>T (p.Glu633Ter) c.1369G>T (p.Glu457Ter) c.*1370G>T (n.*1370G>T) c.862G>T (p.Glu288Ter) c.1708G>T (p.Glu570Ter) c.682G>T (p.Glu228Ter) | dbSNP gnomAD v4 |
2 | g.112008413del | CA2660690112 | MERTK | c.1898del (p.Glu633GlyfsTer9) c.1370del (p.Glu457GlyfsTer9) c.*1371del (n.*1371del) c.863del (p.Glu288GlyfsTer9) c.1709del (p.Glu570GlyfsTer9) c.683del (p.Glu228GlyfsTer9) | gnomAD v4 |
2 | g.112008413A>C | CA348233183 | MERTK | c.1898A>C (p.Glu633Ala) c.1370A>C (p.Glu457Ala) c.*1371A>C (n.*1371A>C) c.863A>C (p.Glu288Ala) c.1709A>C (p.Glu570Ala) c.683A>C (p.Glu228Ala) | |
2 | g.112008413A>G | CA348233184 | MERTK | c.1898A>G (p.Glu633Gly) c.1370A>G (p.Glu457Gly) c.*1371A>G (n.*1371A>G) c.863A>G (p.Glu288Gly) c.1709A>G (p.Glu570Gly) c.683A>G (p.Glu228Gly) | |
2 | g.112008413A>T | CA348233185 | MERTK | c.1898A>T (p.Glu633Val) c.1370A>T (p.Glu457Val) c.*1371A>T (n.*1371A>T) c.863A>T (p.Glu288Val) c.1709A>T (p.Glu570Val) c.683A>T (p.Glu228Val) | |
2 | g.112008414G>A | CA428275217 | MERTK | c.1899G>A (p.Glu633=) c.1371G>A (p.Glu457=) c.*1372G>A (n.*1372G>A) c.864G>A (p.Glu288=) c.1710G>A (p.Glu570=) c.684G>A (p.Glu228=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.112008414G>C | CA348233186 | MERTK | c.1899G>C (p.Glu633Asp) c.1371G>C (p.Glu457Asp) c.*1372G>C (n.*1372G>C) c.864G>C (p.Glu288Asp) c.1710G>C (p.Glu570Asp) c.684G>C (p.Glu228Asp) | |
2 | g.112008414G= | CA1279571243 | MERTK | c.1899G= (p.Glu633=) c.1371G= (p.Glu457=) c.*1372G= (n.*1372G=) c.864G= (p.Glu288=) c.1710G= (p.Glu570=) c.684G= (p.Glu228=) | |
2 | g.112008414G>T | CA348233187 | MERTK | c.1899G>T (p.Glu633Asp) c.1371G>T (p.Glu457Asp) c.*1372G>T (n.*1372G>T) c.864G>T (p.Glu288Asp) c.1710G>T (p.Glu570Asp) c.684G>T (p.Glu228Asp) | |
2 | g.112008415T>A | CA348233188 | MERTK | c.1900T>A (p.Phe634Ile) c.1372T>A (p.Phe458Ile) c.*1373T>A (n.*1373T>A) c.865T>A (p.Phe289Ile) c.1711T>A (p.Phe571Ile) c.685T>A (p.Phe229Ile) | |
2 | g.112008415T>C | CA348233189 | MERTK | c.1900T>C (p.Phe634Leu) c.1372T>C (p.Phe458Leu) c.*1373T>C (n.*1373T>C) c.865T>C (p.Phe289Leu) c.1711T>C (p.Phe571Leu) c.685T>C (p.Phe229Leu) | |
2 | g.112008415T>G | CA348233190 | MERTK | c.1900T>G (p.Phe634Val) c.1372T>G (p.Phe458Val) c.*1373T>G (n.*1373T>G) c.865T>G (p.Phe289Val) c.1711T>G (p.Phe571Val) c.685T>G (p.Phe229Val) | |
2 | g.112008417del | CA2586969804 | MERTK | c.1902del (p.Leu635SerfsTer7) c.1374del (p.Leu459SerfsTer7) c.*1375del (n.*1375del) c.867del (p.Leu290SerfsTer7) c.1713del (p.Leu572SerfsTer7) c.687del (p.Leu230SerfsTer7) | |
2 | g.112008416T>A | CA348233194 | MERTK | c.1901T>A (p.Phe634Tyr) c.1373T>A (p.Phe458Tyr) c.*1374T>A (n.*1374T>A) c.866T>A (p.Phe289Tyr) c.1712T>A (p.Phe571Tyr) c.686T>A (p.Phe229Tyr) | |
2 | g.112008416T>C | CA348233191 | MERTK | c.1901T>C (p.Phe634Ser) c.1373T>C (p.Phe458Ser) c.*1374T>C (n.*1374T>C) c.866T>C (p.Phe289Ser) c.1712T>C (p.Phe571Ser) c.686T>C (p.Phe229Ser) | |
2 | g.112008416T>G | CA348233193 | MERTK | c.1901T>G (p.Phe634Cys) c.1373T>G (p.Phe458Cys) c.*1374T>G (n.*1374T>G) c.866T>G (p.Phe289Cys) c.1712T>G (p.Phe571Cys) c.686T>G (p.Phe229Cys) | |
2 | g.112008417T>A | CA348233195 | MERTK | c.1902T>A (p.Phe634Leu) c.1374T>A (p.Phe458Leu) c.*1375T>A (n.*1375T>A) c.867T>A (p.Phe289Leu) c.1713T>A (p.Phe571Leu) c.687T>A (p.Phe229Leu) | |
2 | g.112008417T>C | CA428275218 | MERTK | c.1902T>C (p.Phe634=) c.1374T>C (p.Phe458=) c.*1375T>C (n.*1375T>C) c.867T>C (p.Phe289=) c.1713T>C (p.Phe571=) c.687T>C (p.Phe229=) | |
2 | g.112008417T>G | CA348233197 | MERTK | c.1902T>G (p.Phe634Leu) c.1374T>G (p.Phe458Leu) c.*1375T>G (n.*1375T>G) c.867T>G (p.Phe289Leu) c.1713T>G (p.Phe571Leu) c.687T>G (p.Phe229Leu) | |
2 | g.112008418C>A | CA348233199 | MERTK | c.1903C>A (p.Leu635Ile) c.1375C>A (p.Leu459Ile) c.*1376C>A (n.*1376C>A) c.868C>A (p.Leu290Ile) c.1714C>A (p.Leu572Ile) c.688C>A (p.Leu230Ile) | |
2 | g.112008418C>G | CA348233201 | MERTK | c.1903C>G (p.Leu635Val) c.1375C>G (p.Leu459Val) c.*1376C>G (n.*1376C>G) c.868C>G (p.Leu290Val) c.1714C>G (p.Leu572Val) c.688C>G (p.Leu230Val) | gnomAD v4 |
2 | g.112008418C>T | CA348233203 | MERTK | c.1903C>T (p.Leu635Phe) c.1375C>T (p.Leu459Phe) c.*1376C>T (n.*1376C>T) c.868C>T (p.Leu290Phe) c.1714C>T (p.Leu572Phe) c.688C>T (p.Leu230Phe) | gnomAD v4 |
2 | g.112008419T>A | CA348233204 | MERTK | c.1904T>A (p.Leu635His) c.1376T>A (p.Leu459His) c.*1377T>A (n.*1377T>A) c.869T>A (p.Leu290His) c.1715T>A (p.Leu572His) c.689T>A (p.Leu230His) | |
2 | g.112008419T>C | CA348233206 | MERTK | c.1904T>C (p.Leu635Pro) c.1376T>C (p.Leu459Pro) c.*1377T>C (n.*1377T>C) c.869T>C (p.Leu290Pro) c.1715T>C (p.Leu572Pro) c.689T>C (p.Leu230Pro) | |
2 | g.112008419T>G | CA348233208 | MERTK | c.1904T>G (p.Leu635Arg) c.1376T>G (p.Leu459Arg) c.*1377T>G (n.*1377T>G) c.869T>G (p.Leu290Arg) c.1715T>G (p.Leu572Arg) c.689T>G (p.Leu230Arg) | |
2 | g.112008420C>A | CA428275219 | MERTK | c.1905C>A (p.Leu635=) c.1377C>A (p.Leu459=) c.*1378C>A (n.*1378C>A) c.870C>A (p.Leu290=) c.1716C>A (p.Leu572=) c.690C>A (p.Leu230=) | |
2 | g.112008420C= | CA1279571244 | MERTK | c.1905C= (p.Leu635=) c.1377C= (p.Leu459=) c.*1378C= (n.*1378C=) c.870C= (p.Leu290=) c.1716C= (p.Leu572=) c.690C= (p.Leu230=) | |
2 | g.112008420C>G | CA428275220 | MERTK | c.1905C>G (p.Leu635=) c.1377C>G (p.Leu459=) c.*1378C>G (n.*1378C>G) c.870C>G (p.Leu290=) c.1716C>G (p.Leu572=) c.690C>G (p.Leu230=) | |
2 | g.112008420C>T | CA428275221 | MERTK | c.1905C>T (p.Leu635=) c.1377C>T (p.Leu459=) c.*1378C>T (n.*1378C>T) c.870C>T (p.Leu290=) c.1716C>T (p.Leu572=) c.690C>T (p.Leu230=) | ClinVar dbSNP gnomAD v4 |
2 | g.112008421A= | CA1279571245 | MERTK | c.1906A= (p.Ser636=) c.1378A= (p.Ser460=) c.*1379A= (n.*1379A=) c.871A= (p.Ser291=) c.1717A= (p.Ser573=) c.691A= (p.Ser231=) | |
2 | g.112008421A>C | CA348233209 | MERTK | c.1906A>C (p.Ser636Arg) c.1378A>C (p.Ser460Arg) c.*1379A>C (n.*1379A>C) c.871A>C (p.Ser291Arg) c.1717A>C (p.Ser573Arg) c.691A>C (p.Ser231Arg) | |
2 | g.112008421A>G | CA1831587 | MERTK | c.1906A>G (p.Ser636Gly) c.1378A>G (p.Ser460Gly) c.*1379A>G (n.*1379A>G) c.871A>G (p.Ser291Gly) c.1717A>G (p.Ser573Gly) c.691A>G (p.Ser231Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.112008421A>T | CA348233212 | MERTK | c.1906A>T (p.Ser636Cys) c.1378A>T (p.Ser460Cys) c.*1379A>T (n.*1379A>T) c.871A>T (p.Ser291Cys) c.1717A>T (p.Ser573Cys) c.691A>T (p.Ser231Cys) | gnomAD v4 |
2 | g.112008422G>A | CA348233214 | MERTK | c.1907G>A (p.Ser636Asn) c.1379G>A (p.Ser460Asn) c.*1380G>A (n.*1380G>A) c.872G>A (p.Ser291Asn) c.1718G>A (p.Ser573Asn) c.692G>A (p.Ser231Asn) | |
2 | g.112008422G>C | CA1831588 | MERTK | c.1907G>C (p.Ser636Thr) c.1379G>C (p.Ser460Thr) c.*1380G>C (n.*1380G>C) c.872G>C (p.Ser291Thr) c.1718G>C (p.Ser573Thr) c.692G>C (p.Ser231Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.112008422G= | CA1279571246 | MERTK | c.1907G= (p.Ser636=) c.1379G= (p.Ser460=) c.*1380G= (n.*1380G=) c.872G= (p.Ser291=) c.1718G= (p.Ser573=) c.692G= (p.Ser231=) | |
2 | g.112008422G>T | CA348233216 | MERTK | c.1907G>T (p.Ser636Ile) c.1379G>T (p.Ser460Ile) c.*1380G>T (n.*1380G>T) c.872G>T (p.Ser291Ile) c.1718G>T (p.Ser573Ile) c.692G>T (p.Ser231Ile) | |
2 | g.112008423T>A | CA348233218 | MERTK | c.1908T>A (p.Ser636Arg) c.1380T>A (p.Ser460Arg) c.*1381T>A (n.*1381T>A) c.873T>A (p.Ser291Arg) c.1719T>A (p.Ser573Arg) c.693T>A (p.Ser231Arg) | |
2 | g.112008423T>C | CA428275222 | MERTK | c.1908T>C (p.Ser636=) c.1380T>C (p.Ser460=) c.*1381T>C (n.*1381T>C) c.873T>C (p.Ser291=) c.1719T>C (p.Ser573=) c.693T>C (p.Ser231=) | |
2 | g.112008423T>G | CA348233220 | MERTK | c.1908T>G (p.Ser636Arg) c.1380T>G (p.Ser460Arg) c.*1381T>G (n.*1381T>G) c.873T>G (p.Ser291Arg) c.1719T>G (p.Ser573Arg) c.693T>G (p.Ser231Arg) | |
2 | g.112008424G>A | CA348233222 | MERTK | c.1909G>A (p.Glu637Lys) c.1381G>A (p.Glu461Lys) c.*1382G>A (n.*1382G>A) c.874G>A (p.Glu292Lys) c.1720G>A (p.Glu574Lys) c.694G>A (p.Glu232Lys) | gnomAD v4 |
2 | g.112008424G>C | CA348233223 | MERTK | c.1909G>C (p.Glu637Gln) c.1381G>C (p.Glu461Gln) c.*1382G>C (n.*1382G>C) c.874G>C (p.Glu292Gln) c.1720G>C (p.Glu574Gln) c.694G>C (p.Glu232Gln) | |
2 | g.112008424G>T | CA348233225 | MERTK | c.1909G>T (p.Glu637Ter) c.1381G>T (p.Glu461Ter) c.*1382G>T (n.*1382G>T) c.874G>T (p.Glu292Ter) c.1720G>T (p.Glu574Ter) c.694G>T (p.Glu232Ter) | |
2 | g.112008425A>C | CA348233227 | MERTK | c.1910A>C (p.Glu637Ala) c.1382A>C (p.Glu461Ala) c.*1383A>C (n.*1383A>C) c.875A>C (p.Glu292Ala) c.1721A>C (p.Glu574Ala) c.695A>C (p.Glu232Ala) | |
2 | g.112008425A>G | CA348233229 | MERTK | c.1910A>G (p.Glu637Gly) c.1382A>G (p.Glu461Gly) c.*1383A>G (n.*1383A>G) c.875A>G (p.Glu292Gly) c.1721A>G (p.Glu574Gly) c.695A>G (p.Glu232Gly) | |
2 | g.112008425A>T | CA348233230 | MERTK | c.1910A>T (p.Glu637Val) c.1382A>T (p.Glu461Val) c.*1383A>T (n.*1383A>T) c.875A>T (p.Glu292Val) c.1721A>T (p.Glu574Val) c.695A>T (p.Glu232Val) | |
2 | g.112008426G>A | CA428275223 | MERTK | c.1911G>A (p.Glu637=) c.1383G>A (p.Glu461=) c.*1384G>A (n.*1384G>A) c.876G>A (p.Glu292=) c.1722G>A (p.Glu574=) c.696G>A (p.Glu232=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.112008426G>C | CA348233232 | MERTK | c.1911G>C (p.Glu637Asp) c.1383G>C (p.Glu461Asp) c.*1384G>C (n.*1384G>C) c.876G>C (p.Glu292Asp) c.1722G>C (p.Glu574Asp) c.696G>C (p.Glu232Asp) | |
2 | g.112008426G= | CA1279571247 | MERTK | c.1911G= (p.Glu637=) c.1383G= (p.Glu461=) c.*1384G= (n.*1384G=) c.876G= (p.Glu292=) c.1722G= (p.Glu574=) c.696G= (p.Glu232=) | |
2 | g.112008426G>T | CA348233234 | MERTK | c.1911G>T (p.Glu637Asp) c.1383G>T (p.Glu461Asp) c.*1384G>T (n.*1384G>T) c.876G>T (p.Glu292Asp) c.1722G>T (p.Glu574Asp) c.696G>T (p.Glu232Asp) | |
2 | g.112008427dup | CA2660690113 | MERTK | c.1912dup (p.Ala638GlyfsTer?) c.1384dup (p.Ala462GlyfsTer?) c.*1385dup (n.*1385dup) c.877dup (p.Ala293GlyfsTer22) c.1723dup (p.Ala575GlyfsTer?) c.697dup (p.Ala233GlyfsTer?) | gnomAD v4 |
2 | g.112008427G>A | CA348233235 | MERTK | c.1912G>A (p.Ala638Thr) c.1384G>A (p.Ala462Thr) c.*1385G>A (n.*1385G>A) c.877G>A (p.Ala293Thr) c.1723G>A (p.Ala575Thr) c.697G>A (p.Ala233Thr) | COSMIC |
2 | g.112008427G>C | CA348233237 | MERTK | c.1912G>C (p.Ala638Pro) c.1384G>C (p.Ala462Pro) c.*1385G>C (n.*1385G>C) c.877G>C (p.Ala293Pro) c.1723G>C (p.Ala575Pro) c.697G>C (p.Ala233Pro) | |
2 | g.112008427G>T | CA348233239 | MERTK | c.1912G>T (p.Ala638Ser) c.1384G>T (p.Ala462Ser) c.*1385G>T (n.*1385G>T) c.877G>T (p.Ala293Ser) c.1723G>T (p.Ala575Ser) c.697G>T (p.Ala233Ser) | |
2 | g.112008428C>A | CA348233245 | MERTK | c.1913C>A (p.Ala638Glu) c.1385C>A (p.Ala462Glu) c.*1386C>A (n.*1386C>A) c.878C>A (p.Ala293Glu) c.1724C>A (p.Ala575Glu) c.698C>A (p.Ala233Glu) | |
2 | g.112008428C= | CA1279571248 | MERTK | c.1913C= (p.Ala638=) c.1385C= (p.Ala462=) c.*1386C= (n.*1386C=) c.878C= (p.Ala293=) c.1724C= (p.Ala575=) c.698C= (p.Ala233=) | |
2 | g.112008428C>G | CA348233243 | MERTK | c.1913C>G (p.Ala638Gly) c.1385C>G (p.Ala462Gly) c.*1386C>G (n.*1386C>G) c.878C>G (p.Ala293Gly) c.1724C>G (p.Ala575Gly) c.698C>G (p.Ala233Gly) | |
2 | g.112008428C>T | CA348233241 | MERTK | c.1913C>T (p.Ala638Val) c.1385C>T (p.Ala462Val) c.*1386C>T (n.*1386C>T) c.878C>T (p.Ala293Val) c.1724C>T (p.Ala575Val) c.698C>T (p.Ala233Val) | dbSNP |
2 | g.112008429A>C | CA428275225 | MERTK | c.1914A>C (p.Ala638=) c.1386A>C (p.Ala462=) c.*1387A>C (n.*1387A>C) c.879A>C (p.Ala293=) c.1725A>C (p.Ala575=) c.699A>C (p.Ala233=) | |
2 | g.112008429A>G | CA428275226 | MERTK | c.1914A>G (p.Ala638=) c.1386A>G (p.Ala462=) c.*1387A>G (n.*1387A>G) c.879A>G (p.Ala293=) c.1725A>G (p.Ala575=) c.699A>G (p.Ala233=) | |
2 | g.112008429A>T | CA428275224 | MERTK | c.1914A>T (p.Ala638=) c.1386A>T (p.Ala462=) c.*1387A>T (n.*1387A>T) c.879A>T (p.Ala293=) c.1725A>T (p.Ala575=) c.699A>T (p.Ala233=) | gnomAD v4 |
2 | g.112008430G>A | CA348233246 | MERTK | c.1915G>A (p.Ala639Thr) c.1387G>A (p.Ala463Thr) c.*1388G>A (n.*1388G>A) c.880G>A (p.Ala294Thr) c.1726G>A (p.Ala576Thr) c.700G>A (p.Ala234Thr) | |
2 | g.112008430G>C | CA348233249 | MERTK | c.1915G>C (p.Ala639Pro) c.1387G>C (p.Ala463Pro) c.*1388G>C (n.*1388G>C) c.880G>C (p.Ala294Pro) c.1726G>C (p.Ala576Pro) c.700G>C (p.Ala234Pro) | |
2 | g.112008430G>T | CA348233250 | MERTK | c.1915G>T (p.Ala639Ser) c.1387G>T (p.Ala463Ser) c.*1388G>T (n.*1388G>T) c.880G>T (p.Ala294Ser) c.1726G>T (p.Ala576Ser) c.700G>T (p.Ala234Ser) | |
2 | g.112008431C>A | CA348233252 | MERTK | c.1916C>A (p.Ala639Glu) c.1388C>A (p.Ala463Glu) c.*1389C>A (n.*1389C>A) c.881C>A (p.Ala294Glu) c.1727C>A (p.Ala576Glu) c.701C>A (p.Ala234Glu) | |
2 | g.112008431C= | CA1279571249 | MERTK | c.1916C= (p.Ala639=) c.1388C= (p.Ala463=) c.*1389C= (n.*1389C=) c.881C= (p.Ala294=) c.1727C= (p.Ala576=) c.701C= (p.Ala234=) | |
2 | g.112008431C>G | CA348233253 | MERTK | c.1916C>G (p.Ala639Gly) c.1388C>G (p.Ala463Gly) c.*1389C>G (n.*1389C>G) c.881C>G (p.Ala294Gly) c.1727C>G (p.Ala576Gly) c.701C>G (p.Ala234Gly) | |
2 | g.112008431C>T | CA348233255 | MERTK | c.1916C>T (p.Ala639Val) c.1388C>T (p.Ala463Val) c.*1389C>T (n.*1389C>T) c.881C>T (p.Ala294Val) c.1727C>T (p.Ala576Val) c.701C>T (p.Ala234Val) | ClinVar dbSNP gnomAD v4 |
2 | g.112008432G>A | CA428275229 | MERTK | c.1917G>A (p.Ala639=) c.1389G>A (p.Ala463=) c.*1390G>A (n.*1390G>A) c.882G>A (p.Ala294=) c.1728G>A (p.Ala576=) c.702G>A (p.Ala234=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.112008432G>C | CA428275227 | MERTK | c.1917G>C (p.Ala639=) c.1389G>C (p.Ala463=) c.*1390G>C (n.*1390G>C) c.882G>C (p.Ala294=) c.1728G>C (p.Ala576=) c.702G>C (p.Ala234=) | |
2 | g.112008432G= | CA1279571250 | MERTK | c.1917G= (p.Ala639=) c.1389G= (p.Ala463=) c.*1390G= (n.*1390G=) c.882G= (p.Ala294=) c.1728G= (p.Ala576=) c.702G= (p.Ala234=) | |
2 | g.112008432G>T | CA428275228 | MERTK | c.1917G>T (p.Ala639=) c.1389G>T (p.Ala463=) c.*1390G>T (n.*1390G>T) c.882G>T (p.Ala294=) c.1728G>T (p.Ala576=) c.702G>T (p.Ala234=) | dbSNP |
2 | g.112008433T>A | CA348233257 | MERTK | c.1918T>A (p.Cys640Ser) c.1390T>A (p.Cys464Ser) c.*1391T>A (n.*1391T>A) c.883T>A (p.Cys295Ser) c.1729T>A (p.Cys577Ser) c.703T>A (p.Cys235Ser) | |
2 | g.112008433T>C | CA348233258 | MERTK | c.1918T>C (p.Cys640Arg) c.1390T>C (p.Cys464Arg) c.*1391T>C (n.*1391T>C) c.883T>C (p.Cys295Arg) c.1729T>C (p.Cys577Arg) c.703T>C (p.Cys235Arg) | |
2 | g.112008433T>G | CA348233259 | MERTK | c.1918T>G (p.Cys640Gly) c.1390T>G (p.Cys464Gly) c.*1391T>G (n.*1391T>G) c.883T>G (p.Cys295Gly) c.1729T>G (p.Cys577Gly) c.703T>G (p.Cys235Gly) | |
2 | g.112008434G>A | CA348233261 | MERTK | c.1919G>A (p.Cys640Tyr) c.1391G>A (p.Cys464Tyr) c.*1392G>A (n.*1392G>A) c.884G>A (p.Cys295Tyr) c.1730G>A (p.Cys577Tyr) c.704G>A (p.Cys235Tyr) | |
2 | g.112008434G>C | CA348233263 | MERTK | c.1919G>C (p.Cys640Ser) c.1391G>C (p.Cys464Ser) c.*1392G>C (n.*1392G>C) c.884G>C (p.Cys295Ser) c.1730G>C (p.Cys577Ser) c.704G>C (p.Cys235Ser) | |
2 | g.112008434G>T | CA348233265 | MERTK | c.1919G>T (p.Cys640Phe) c.1391G>T (p.Cys464Phe) c.*1392G>T (n.*1392G>T) c.884G>T (p.Cys295Phe) c.1730G>T (p.Cys577Phe) c.704G>T (p.Cys235Phe) | |
2 | g.112008435C>A | CA348233268 | MERTK | c.1920C>A (p.Cys640Ter) c.1392C>A (p.Cys464Ter) c.*1393C>A (n.*1393C>A) c.885C>A (p.Cys295Ter) c.1731C>A (p.Cys577Ter) c.705C>A (p.Cys235Ter) | |
2 | g.112008435C>G | CA348233266 | MERTK | c.1920C>G (p.Cys640Trp) c.1392C>G (p.Cys464Trp) c.*1393C>G (n.*1393C>G) c.885C>G (p.Cys295Trp) c.1731C>G (p.Cys577Trp) c.705C>G (p.Cys235Trp) | |
2 | g.112008435C>T | CA428275230 | MERTK | c.1920C>T (p.Cys640=) c.1392C>T (p.Cys464=) c.*1393C>T (n.*1393C>T) c.885C>T (p.Cys295=) c.1731C>T (p.Cys577=) c.705C>T (p.Cys235=) | gnomAD v4 |
2 | g.112008436A= | CA1279571251 | MERTK | c.1921A= (p.Met641=) c.1393A= (p.Met465=) c.*1394A= (n.*1394A=) c.886A= (p.Met296=) c.1732A= (p.Met578=) c.706A= (p.Met236=) | |
2 | g.112008436A>C | CA1831589 | MERTK | c.1921A>C (p.Met641Leu) c.1393A>C (p.Met465Leu) c.*1394A>C (n.*1394A>C) c.886A>C (p.Met296Leu) c.1732A>C (p.Met578Leu) c.706A>C (p.Met236Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.112008436A>G | CA348233271 | MERTK | c.1921A>G (p.Met641Val) c.1393A>G (p.Met465Val) c.*1394A>G (n.*1394A>G) c.886A>G (p.Met296Val) c.1732A>G (p.Met578Val) c.706A>G (p.Met236Val) | gnomAD v4 |
2 | g.112008436A>T | CA348233273 | MERTK | c.1921A>T (p.Met641Leu) c.1393A>T (p.Met465Leu) c.*1394A>T (n.*1394A>T) c.886A>T (p.Met296Leu) c.1732A>T (p.Met578Leu) c.706A>T (p.Met236Leu) | |
2 | g.112008437T>A | CA348233275 | MERTK | c.1922T>A (p.Met641Lys) c.1394T>A (p.Met465Lys) c.*1395T>A (n.*1395T>A) c.887T>A (p.Met296Lys) c.1733T>A (p.Met578Lys) c.707T>A (p.Met236Lys) | |
2 | g.112008437T>C | CA1831590 | MERTK | c.1922T>C (p.Met641Thr) c.1394T>C (p.Met465Thr) c.*1395T>C (n.*1395T>C) c.887T>C (p.Met296Thr) c.1733T>C (p.Met578Thr) c.707T>C (p.Met236Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.112008437T>G | CA348233277 | MERTK | c.1922T>G (p.Met641Arg) c.1394T>G (p.Met465Arg) c.*1395T>G (n.*1395T>G) c.887T>G (p.Met296Arg) c.1733T>G (p.Met578Arg) c.707T>G (p.Met236Arg) | |
2 | g.112008437T= | CA1279571252 | MERTK | c.1922T= (p.Met641=) c.1394T= (p.Met465=) c.*1395T= (n.*1395T=) c.887T= (p.Met296=) c.1733T= (p.Met578=) c.707T= (p.Met236=) | |
2 | g.112008438G>A | CA348233280 | MERTK | c.1923G>A (p.Met641Ile) c.1395G>A (p.Met465Ile) c.*1396G>A (n.*1396G>A) c.888G>A (p.Met296Ile) c.1734G>A (p.Met578Ile) c.708G>A (p.Met236Ile) | |
2 | g.112008438G>C | CA348233281 | MERTK | c.1923G>C (p.Met641Ile) c.1395G>C (p.Met465Ile) c.*1396G>C (n.*1396G>C) c.888G>C (p.Met296Ile) c.1734G>C (p.Met578Ile) c.708G>C (p.Met236Ile) | |
2 | g.112008438G>T | CA348233283 | MERTK | c.1923G>T (p.Met641Ile) c.1395G>T (p.Met465Ile) c.*1396G>T (n.*1396G>T) c.888G>T (p.Met296Ile) c.1734G>T (p.Met578Ile) c.708G>T (p.Met236Ile) | |
2 | g.112008439A>C | CA348233285 | MERTK | c.1924A>C (p.Lys642Gln) c.1396A>C (p.Lys466Gln) c.*1397A>C (n.*1397A>C) c.889A>C (p.Lys297Gln) c.1735A>C (p.Lys579Gln) c.709A>C (p.Lys237Gln) | |
2 | g.112008439A>G | CA348233286 | MERTK | c.1924A>G (p.Lys642Glu) c.1396A>G (p.Lys466Glu) c.*1397A>G (n.*1397A>G) c.889A>G (p.Lys297Glu) c.1735A>G (p.Lys579Glu) c.709A>G (p.Lys237Glu) | |
2 | g.112008439A>T | CA348233287 | MERTK | c.1924A>T (p.Lys642Ter) c.1396A>T (p.Lys466Ter) c.*1397A>T (n.*1397A>T) c.889A>T (p.Lys297Ter) c.1735A>T (p.Lys579Ter) c.709A>T (p.Lys237Ter) | |
2 | g.112008440A= | CA1279571253 | MERTK | c.1925A= (p.Lys642=) c.1397A= (p.Lys466=) c.*1398A= (n.*1398A=) c.890A= (p.Lys297=) c.1736A= (p.Lys579=) c.710A= (p.Lys237=) | |
2 | g.112008440A>C | CA1831591 | MERTK | c.1925A>C (p.Lys642Thr) c.1397A>C (p.Lys466Thr) c.*1398A>C (n.*1398A>C) c.890A>C (p.Lys297Thr) c.1736A>C (p.Lys579Thr) c.710A>C (p.Lys237Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.112008440A>G | CA348233291 | MERTK | c.1925A>G (p.Lys642Arg) c.1397A>G (p.Lys466Arg) c.*1398A>G (n.*1398A>G) c.890A>G (p.Lys297Arg) c.1736A>G (p.Lys579Arg) c.710A>G (p.Lys237Arg) | |
2 | g.112008440A>T | CA348233289 | MERTK | c.1925A>T (p.Lys642Ile) c.1397A>T (p.Lys466Ile) c.*1398A>T (n.*1398A>T) c.890A>T (p.Lys297Ile) c.1736A>T (p.Lys579Ile) c.710A>T (p.Lys237Ile) | |
2 | g.112008441A= | CA1279571254 | MERTK | c.1926A= (p.Lys642=) c.1398A= (p.Lys466=) c.*1399A= (n.*1399A=) c.891A= (p.Lys297=) c.1737A= (p.Lys579=) c.711A= (p.Lys237=) | |
2 | g.112008441A>C | CA348233292 | MERTK | c.1926A>C (p.Lys642Asn) c.1398A>C (p.Lys466Asn) c.*1399A>C (n.*1399A>C) c.891A>C (p.Lys297Asn) c.1737A>C (p.Lys579Asn) c.711A>C (p.Lys237Asn) | |
2 | g.112008441A>G | CA428275231 | MERTK | c.1926A>G (p.Lys642=) c.1398A>G (p.Lys466=) c.*1399A>G (n.*1399A>G) c.891A>G (p.Lys297=) c.1737A>G (p.Lys579=) c.711A>G (p.Lys237=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.112008441A>T | CA348233294 | MERTK | c.1926A>T (p.Lys642Asn) c.1398A>T (p.Lys466Asn) c.*1399A>T (n.*1399A>T) c.891A>T (p.Lys297Asn) c.1737A>T (p.Lys579Asn) c.711A>T (p.Lys237Asn) | gnomAD v4 |
2 | g.112008442G>A | CA348233295 | MERTK | c.1927G>A (p.Asp643Asn) c.1399G>A (p.Asp467Asn) c.*1400G>A (n.*1400G>A) c.892G>A (p.Asp298Asn) c.1738G>A (p.Asp580Asn) c.712G>A (p.Asp238Asn) | |
2 | g.112008442G>C | CA348233297 | MERTK | c.1927G>C (p.Asp643His) c.1399G>C (p.Asp467His) c.*1400G>C (n.*1400G>C) c.892G>C (p.Asp298His) c.1738G>C (p.Asp580His) c.712G>C (p.Asp238His) | COSMIC COSMIC |
2 | g.112008442G>T | CA348233298 | MERTK | c.1927G>T (p.Asp643Tyr) c.1399G>T (p.Asp467Tyr) c.*1400G>T (n.*1400G>T) c.892G>T (p.Asp298Tyr) c.1738G>T (p.Asp580Tyr) c.712G>T (p.Asp238Tyr) | |
2 | g.112008443A>C | CA348233301 | MERTK | c.1928A>C (p.Asp643Ala) c.1400A>C (p.Asp467Ala) c.*1401A>C (n.*1401A>C) c.893A>C (p.Asp298Ala) c.1739A>C (p.Asp580Ala) c.713A>C (p.Asp238Ala) | |
2 | g.112008443A>G | CA348233299 | MERTK | c.1928A>G (p.Asp643Gly) c.1400A>G (p.Asp467Gly) c.*1401A>G (n.*1401A>G) c.893A>G (p.Asp298Gly) c.1739A>G (p.Asp580Gly) c.713A>G (p.Asp238Gly) | |
2 | g.112008443A>T | CA348233300 | MERTK | c.1928A>T (p.Asp643Val) c.1400A>T (p.Asp467Val) c.*1401A>T (n.*1401A>T) c.893A>T (p.Asp298Val) c.1739A>T (p.Asp580Val) c.713A>T (p.Asp238Val) | |
2 | g.112008444C>A | CA348233302 | MERTK | c.1929C>A (p.Asp643Glu) c.1401C>A (p.Asp467Glu) c.*1402C>A (n.*1402C>A) c.894C>A (p.Asp298Glu) c.1740C>A (p.Asp580Glu) c.714C>A (p.Asp238Glu) | |
2 | g.112008444C>G | CA348233303 | MERTK | c.1929C>G (p.Asp643Glu) c.1401C>G (p.Asp467Glu) c.*1402C>G (n.*1402C>G) c.894C>G (p.Asp298Glu) c.1740C>G (p.Asp580Glu) c.714C>G (p.Asp238Glu) | |
2 | g.112008444C>T | CA428275232 | MERTK | c.1929C>T (p.Asp643=) c.1401C>T (p.Asp467=) c.*1402C>T (n.*1402C>T) c.894C>T (p.Asp298=) c.1740C>T (p.Asp580=) c.714C>T (p.Asp238=) | |
2 | g.112008445T>A | CA348233304 | MERTK | c.1930T>A (p.Phe644Ile) c.1402T>A (p.Phe468Ile) c.*1403T>A (n.*1403T>A) c.895T>A (p.Phe299Ile) c.1741T>A (p.Phe581Ile) c.715T>A (p.Phe239Ile) | |
2 | g.112008445T>C | CA348233305 | MERTK | c.1930T>C (p.Phe644Leu) c.1402T>C (p.Phe468Leu) c.*1403T>C (n.*1403T>C) c.895T>C (p.Phe299Leu) c.1741T>C (p.Phe581Leu) c.715T>C (p.Phe239Leu) | |
2 | g.112008445T>G | CA348233306 | MERTK | c.1930T>G (p.Phe644Val) c.1402T>G (p.Phe468Val) c.*1403T>G (n.*1403T>G) c.895T>G (p.Phe299Val) c.1741T>G (p.Phe581Val) c.715T>G (p.Phe239Val) | |
2 | g.112008446T>A | CA348233308 | MERTK | c.1931T>A (p.Phe644Tyr) c.1403T>A (p.Phe468Tyr) c.*1404T>A (n.*1404T>A) c.896T>A (p.Phe299Tyr) c.1742T>A (p.Phe581Tyr) c.716T>A (p.Phe239Tyr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.112008446T>C | CA348233307 | MERTK | c.1931T>C (p.Phe644Ser) c.1403T>C (p.Phe468Ser) c.*1404T>C (n.*1404T>C) c.896T>C (p.Phe299Ser) c.1742T>C (p.Phe581Ser) c.716T>C (p.Phe239Ser) | |
2 | g.112008446T>G | CA1831592 | MERTK | c.1931T>G (p.Phe644Cys) c.1403T>G (p.Phe468Cys) c.*1404T>G (n.*1404T>G) c.896T>G (p.Phe299Cys) c.1742T>G (p.Phe581Cys) c.716T>G (p.Phe239Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.112008446T= | CA1279571255 | MERTK | c.1931T= (p.Phe644=) c.1403T= (p.Phe468=) c.*1404T= (n.*1404T=) c.896T= (p.Phe299=) c.1742T= (p.Phe581=) c.716T= (p.Phe239=) | |
2 | g.112008447C>A | CA348233311 | MERTK | c.1932C>A (p.Phe644Leu) c.1404C>A (p.Phe468Leu) c.*1405C>A (n.*1405C>A) c.897C>A (p.Phe299Leu) c.1743C>A (p.Phe581Leu) c.717C>A (p.Phe239Leu) | |
2 | g.112008447C>G | CA348233312 | MERTK | c.1932C>G (p.Phe644Leu) c.1404C>G (p.Phe468Leu) c.*1405C>G (n.*1405C>G) c.897C>G (p.Phe299Leu) c.1743C>G (p.Phe581Leu) c.717C>G (p.Phe239Leu) | COSMIC COSMIC |
2 | g.112008447C>T | CA428275233 | MERTK | c.1932C>T (p.Phe644=) c.1404C>T (p.Phe468=) c.*1405C>T (n.*1405C>T) c.897C>T (p.Phe299=) c.1743C>T (p.Phe581=) c.717C>T (p.Phe239=) | ClinVar dbSNP gnomAD v4 |
2 | g.112008448A= | CA1279571256 | MERTK | c.1933A= (p.Ser645=) c.1405A= (p.Ser469=) c.*1406A= (n.*1406A=) c.898A= (p.Ser300=) c.1744A= (p.Ser582=) c.718A= (p.Ser240=) | |
2 | g.112008448A>C | CA348233314 | MERTK | c.1933A>C (p.Ser645Arg) c.1405A>C (p.Ser469Arg) c.*1406A>C (n.*1406A>C) c.898A>C (p.Ser300Arg) c.1744A>C (p.Ser582Arg) c.718A>C (p.Ser240Arg) | |
2 | g.112008448A>G | CA348233316 | MERTK | c.1933A>G (p.Ser645Gly) c.1405A>G (p.Ser469Gly) c.*1406A>G (n.*1406A>G) c.898A>G (p.Ser300Gly) c.1744A>G (p.Ser582Gly) c.718A>G (p.Ser240Gly) | dbSNP gnomAD v4 |
2 | g.112008448A>T | CA348233319 | MERTK | c.1933A>T (p.Ser645Cys) c.1405A>T (p.Ser469Cys) c.*1406A>T (n.*1406A>T) c.898A>T (p.Ser300Cys) c.1744A>T (p.Ser582Cys) c.718A>T (p.Ser240Cys) | |
2 | g.112008449G>A | CA348233322 | MERTK | c.1934G>A (p.Ser645Asn) c.1406G>A (p.Ser469Asn) c.*1407G>A (n.*1407G>A) c.899G>A (p.Ser300Asn) c.1745G>A (p.Ser582Asn) c.719G>A (p.Ser240Asn) | |
2 | g.112008449G>C | CA348233324 | MERTK | c.1934G>C (p.Ser645Thr) c.1406G>C (p.Ser469Thr) c.*1407G>C (n.*1407G>C) c.899G>C (p.Ser300Thr) c.1745G>C (p.Ser582Thr) c.719G>C (p.Ser240Thr) | |
2 | g.112008449G>T | CA348233325 | MERTK | c.1934G>T (p.Ser645Ile) c.1406G>T (p.Ser469Ile) c.*1407G>T (n.*1407G>T) c.899G>T (p.Ser300Ile) c.1745G>T (p.Ser582Ile) c.719G>T (p.Ser240Ile) | |
2 | g.112008450_112008484del | CA2697551016 | MERTK | c.1935_1960+9del c.1407_1432+9del c.*1408_*1433+9del c.900_925+9del c.1746_1771+9del c.720_745+9del | ClinVar |
2 | g.112008450C>A | CA348233328 | MERTK | c.1935C>A (p.Ser645Arg) c.1407C>A (p.Ser469Arg) c.*1408C>A (n.*1408C>A) c.900C>A (p.Ser300Arg) c.1746C>A (p.Ser582Arg) c.720C>A (p.Ser240Arg) | |
2 | g.112008450C>G | CA348233329 | MERTK | c.1935C>G (p.Ser645Arg) c.1407C>G (p.Ser469Arg) c.*1408C>G (n.*1408C>G) c.900C>G (p.Ser300Arg) c.1746C>G (p.Ser582Arg) c.720C>G (p.Ser240Arg) | |
2 | g.112008450C>T | CA428275234 | MERTK | c.1935C>T (p.Ser645=) c.1407C>T (p.Ser469=) c.*1408C>T (n.*1408C>T) c.900C>T (p.Ser300=) c.1746C>T (p.Ser582=) c.720C>T (p.Ser240=) | |
2 | g.112008451C>A | CA348233330 | MERTK | c.1936C>A (p.His646Asn) c.1408C>A (p.His470Asn) c.*1409C>A (n.*1409C>A) c.901C>A (p.His301Asn) c.1747C>A (p.His583Asn) c.721C>A (p.His241Asn) | |
2 | g.112008451C>G | CA348233332 | MERTK | c.1936C>G (p.His646Asp) c.1408C>G (p.His470Asp) c.*1409C>G (n.*1409C>G) c.901C>G (p.His301Asp) c.1747C>G (p.His583Asp) c.721C>G (p.His241Asp) | |
2 | g.112008451C>T | CA348233333 | MERTK | c.1936C>T (p.His646Tyr) c.1408C>T (p.His470Tyr) c.*1409C>T (n.*1409C>T) c.901C>T (p.His301Tyr) c.1747C>T (p.His583Tyr) c.721C>T (p.His241Tyr) | |
2 | g.112008452A>C | CA348233334 | MERTK | c.1937A>C (p.His646Pro) c.1409A>C (p.His470Pro) c.*1410A>C (n.*1410A>C) c.902A>C (p.His301Pro) c.1748A>C (p.His583Pro) c.722A>C (p.His241Pro) | |
2 | g.112008452A>G | CA348233335 | MERTK | c.1937A>G (p.His646Arg) c.1409A>G (p.His470Arg) c.*1410A>G (n.*1410A>G) c.902A>G (p.His301Arg) c.1748A>G (p.His583Arg) c.722A>G (p.His241Arg) | |
2 | g.112008452A>T | CA348233336 | MERTK | c.1937A>T (p.His646Leu) c.1409A>T (p.His470Leu) c.*1410A>T (n.*1410A>T) c.902A>T (p.His301Leu) c.1748A>T (p.His583Leu) c.722A>T (p.His241Leu) | |
2 | g.112008453C>A | CA348233340 | MERTK | c.1938C>A (p.His646Gln) c.1410C>A (p.His470Gln) c.*1411C>A (n.*1411C>A) c.903C>A (p.His301Gln) c.1749C>A (p.His583Gln) c.723C>A (p.His241Gln) | |
2 | g.112008453C= | CA1279571257 | MERTK | c.1938C= (p.His646=) c.1410C= (p.His470=) c.*1411C= (n.*1411C=) c.903C= (p.His301=) c.1749C= (p.His583=) c.723C= (p.His241=) | |
2 | g.112008453C>G | CA348233338 | MERTK | c.1938C>G (p.His646Gln) c.1410C>G (p.His470Gln) c.*1411C>G (n.*1411C>G) c.903C>G (p.His301Gln) c.1749C>G (p.His583Gln) c.723C>G (p.His241Gln) | |
2 | g.112008453C>T | CA428275235 | MERTK | c.1938C>T (p.His646=) c.1410C>T (p.His470=) c.*1411C>T (n.*1411C>T) c.903C>T (p.His301=) c.1749C>T (p.His583=) c.723C>T (p.His241=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.112008454C>A | CA348233341 | MERTK | c.1939C>A (p.Pro647Thr) c.1411C>A (p.Pro471Thr) c.*1412C>A (n.*1412C>A) c.904C>A (p.Pro302Thr) c.1750C>A (p.Pro584Thr) c.724C>A (p.Pro242Thr) | |
2 | g.112008454C= | CA1279571258 | MERTK | c.1939C= (p.Pro647=) c.1411C= (p.Pro471=) c.*1412C= (n.*1412C=) c.904C= (p.Pro302=) c.1750C= (p.Pro584=) c.724C= (p.Pro242=) | |
2 | g.112008454C>G | CA348233343 | MERTK | c.1939C>G (p.Pro647Ala) c.1411C>G (p.Pro471Ala) c.*1412C>G (n.*1412C>G) c.904C>G (p.Pro302Ala) c.1750C>G (p.Pro584Ala) c.724C>G (p.Pro242Ala) | |
2 | g.112008454C>T | CA348233350 | MERTK | c.1939C>T (p.Pro647Ser) c.1411C>T (p.Pro471Ser) c.*1412C>T (n.*1412C>T) c.904C>T (p.Pro302Ser) c.1750C>T (p.Pro584Ser) c.724C>T (p.Pro242Ser) | ClinVar dbSNP gnomAD v4 |
2 | g.112008455C>A | CA348233351 | MERTK | c.1940C>A (p.Pro647Gln) c.1412C>A (p.Pro471Gln) c.*1413C>A (n.*1413C>A) c.905C>A (p.Pro302Gln) c.1751C>A (p.Pro584Gln) c.725C>A (p.Pro242Gln) | |
2 | g.112008455C= | CA1279571259 | MERTK | c.1940C= (p.Pro647=) c.1412C= (p.Pro471=) c.*1413C= (n.*1413C=) c.905C= (p.Pro302=) c.1751C= (p.Pro584=) c.725C= (p.Pro242=) | |
2 | g.112008455C>G | CA348233353 | MERTK | c.1940C>G (p.Pro647Arg) c.1412C>G (p.Pro471Arg) c.*1413C>G (n.*1413C>G) c.905C>G (p.Pro302Arg) c.1751C>G (p.Pro584Arg) c.725C>G (p.Pro242Arg) | |
2 | g.112008455C>T | CA348233355 | MERTK | c.1940C>T (p.Pro647Leu) c.1412C>T (p.Pro471Leu) c.*1413C>T (n.*1413C>T) c.905C>T (p.Pro302Leu) c.1751C>T (p.Pro584Leu) c.725C>T (p.Pro242Leu) | ClinVar dbSNP gnomAD v4 |
2 | g.112008456A>C | CA428275236 | MERTK | c.1941A>C (p.Pro647=) c.1413A>C (p.Pro471=) c.*1414A>C (n.*1414A>C) c.906A>C (p.Pro302=) c.1752A>C (p.Pro584=) c.726A>C (p.Pro242=) | |
2 | g.112008456A>G | CA428275237 | MERTK | c.1941A>G (p.Pro647=) c.1413A>G (p.Pro471=) c.*1414A>G (n.*1414A>G) c.906A>G (p.Pro302=) c.1752A>G (p.Pro584=) c.726A>G (p.Pro242=) | |
2 | g.112008456A>T | CA428275238 | MERTK | c.1941A>T (p.Pro647=) c.1413A>T (p.Pro471=) c.*1414A>T (n.*1414A>T) c.906A>T (p.Pro302=) c.1752A>T (p.Pro584=) c.726A>T (p.Pro242=) | |
2 | g.112008457A= | CA1279571260 | MERTK | c.1942A= (p.Asn648=) c.1414A= (p.Asn472=) c.*1415A= (n.*1415A=) c.907A= (p.Asn303=) c.1753A= (p.Asn585=) c.727A= (p.Asn243=) | |
2 | g.112008457A>C | CA1831593 | MERTK | c.1942A>C (p.Asn648His) c.1414A>C (p.Asn472His) c.*1415A>C (n.*1415A>C) c.907A>C (p.Asn303His) c.1753A>C (p.Asn585His) c.727A>C (p.Asn243His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.112008457A>G | CA348233356 | MERTK | c.1942A>G (p.Asn648Asp) c.1414A>G (p.Asn472Asp) c.*1415A>G (n.*1415A>G) c.907A>G (p.Asn303Asp) c.1753A>G (p.Asn585Asp) c.727A>G (p.Asn243Asp) | gnomAD v4 |
2 | g.112008457A>T | CA348233357 | MERTK | c.1942A>T (p.Asn648Tyr) c.1414A>T (p.Asn472Tyr) c.*1415A>T (n.*1415A>T) c.907A>T (p.Asn303Tyr) c.1753A>T (p.Asn585Tyr) c.727A>T (p.Asn243Tyr) | |
2 | g.112008458A>C | CA348233361 | MERTK | c.1943A>C (p.Asn648Thr) c.1415A>C (p.Asn472Thr) c.*1416A>C (n.*1416A>C) c.908A>C (p.Asn303Thr) c.1754A>C (p.Asn585Thr) c.728A>C (p.Asn243Thr) | |
2 | g.112008458A>G | CA348233362 | MERTK | c.1943A>G (p.Asn648Ser) c.1415A>G (p.Asn472Ser) c.*1416A>G (n.*1416A>G) c.908A>G (p.Asn303Ser) c.1754A>G (p.Asn585Ser) c.728A>G (p.Asn243Ser) | |
2 | g.112008458A>T | CA348233364 | MERTK | c.1943A>T (p.Asn648Ile) c.1415A>T (p.Asn472Ile) c.*1416A>T (n.*1416A>T) c.908A>T (p.Asn303Ile) c.1754A>T (p.Asn585Ile) c.728A>T (p.Asn243Ile) | |
2 | g.112008459T>A | CA348233366 | MERTK | c.1944T>A (p.Asn648Lys) c.1416T>A (p.Asn472Lys) c.*1417T>A (n.*1417T>A) c.909T>A (p.Asn303Lys) c.1755T>A (p.Asn585Lys) c.729T>A (p.Asn243Lys) | |
2 | g.112008459T>C | CA428275239 | MERTK | c.1944T>C (p.Asn648=) c.1416T>C (p.Asn472=) c.*1417T>C (n.*1417T>C) c.909T>C (p.Asn303=) c.1755T>C (p.Asn585=) c.729T>C (p.Asn243=) | |
2 | g.112008459T>G | CA348233368 | MERTK | c.1944T>G (p.Asn648Lys) c.1416T>G (p.Asn472Lys) c.*1417T>G (n.*1417T>G) c.909T>G (p.Asn303Lys) c.1755T>G (p.Asn585Lys) c.729T>G (p.Asn243Lys) | |
2 | g.112008460G>A | CA348233369 | MERTK | c.1945G>A (p.Val649Ile) c.1417G>A (p.Val473Ile) c.*1418G>A (n.*1418G>A) c.910G>A (p.Val304Ile) c.1756G>A (p.Val586Ile) c.730G>A (p.Val244Ile) | |
2 | g.112008460G>C | CA348233371 | MERTK | c.1945G>C (p.Val649Leu) c.1417G>C (p.Val473Leu) c.*1418G>C (n.*1418G>C) c.910G>C (p.Val304Leu) c.1756G>C (p.Val586Leu) c.730G>C (p.Val244Leu) | |
2 | g.112008460G>T | CA348233370 | MERTK | c.1945G>T (p.Val649Phe) c.1417G>T (p.Val473Phe) c.*1418G>T (n.*1418G>T) c.910G>T (p.Val304Phe) c.1756G>T (p.Val586Phe) c.730G>T (p.Val244Phe) | |
2 | g.112008461T>A | CA348233378 | MERTK | c.1946T>A (p.Val649Asp) c.1418T>A (p.Val473Asp) c.*1419T>A (n.*1419T>A) c.911T>A (p.Val304Asp) c.1757T>A (p.Val586Asp) c.731T>A (p.Val244Asp) | |
2 | g.112008461T>C | CA348233379 | MERTK | c.1946T>C (p.Val649Ala) c.1418T>C (p.Val473Ala) c.*1419T>C (n.*1419T>C) c.911T>C (p.Val304Ala) c.1757T>C (p.Val586Ala) c.731T>C (p.Val244Ala) | |
2 | g.112008461T>G | CA348233380 | MERTK | c.1946T>G (p.Val649Gly) c.1418T>G (p.Val473Gly) c.*1419T>G (n.*1419T>G) c.911T>G (p.Val304Gly) c.1757T>G (p.Val586Gly) c.731T>G (p.Val244Gly) | |
2 | g.112008462C>A | CA428275240 | MERTK | c.1947C>A (p.Val649=) c.1419C>A (p.Val473=) c.*1420C>A (n.*1420C>A) c.912C>A (p.Val304=) c.1758C>A (p.Val586=) c.732C>A (p.Val244=) | |
2 | g.112008462C>G | CA428275241 | MERTK | c.1947C>G (p.Val649=) c.1419C>G (p.Val473=) c.*1420C>G (n.*1420C>G) c.912C>G (p.Val304=) c.1758C>G (p.Val586=) c.732C>G (p.Val244=) | |
2 | g.112008462C>T | CA428275242 | MERTK | c.1947C>T (p.Val649=) c.1419C>T (p.Val473=) c.*1420C>T (n.*1420C>T) c.912C>T (p.Val304=) c.1758C>T (p.Val586=) c.732C>T (p.Val244=) | |
2 | g.112008463A>C | CA348233382 | MERTK | c.1948A>C (p.Ile650Leu) c.1420A>C (p.Ile474Leu) c.*1421A>C (n.*1421A>C) c.913A>C (p.Ile305Leu) c.1759A>C (p.Ile587Leu) c.733A>C (p.Ile245Leu) | gnomAD v4 |
2 | g.112008463A>G | CA348233384 | MERTK | c.1948A>G (p.Ile650Val) c.1420A>G (p.Ile474Val) c.*1421A>G (n.*1421A>G) c.913A>G (p.Ile305Val) c.1759A>G (p.Ile587Val) c.733A>G (p.Ile245Val) | |
2 | g.112008463A>T | CA348233386 | MERTK | c.1948A>T (p.Ile650Phe) c.1420A>T (p.Ile474Phe) c.*1421A>T (n.*1421A>T) c.913A>T (p.Ile305Phe) c.1759A>T (p.Ile587Phe) c.733A>T (p.Ile245Phe) | ClinVar |
2 | g.112008464T>A | CA348233387 | MERTK | c.1949T>A (p.Ile650Asn) c.1421T>A (p.Ile474Asn) c.*1422T>A (n.*1422T>A) c.914T>A (p.Ile305Asn) c.1760T>A (p.Ile587Asn) c.734T>A (p.Ile245Asn) | |
2 | g.112008464T>C | CA348233390 | MERTK | c.1949T>C (p.Ile650Thr) c.1421T>C (p.Ile474Thr) c.*1422T>C (n.*1422T>C) c.914T>C (p.Ile305Thr) c.1760T>C (p.Ile587Thr) c.734T>C (p.Ile245Thr) | |
2 | g.112008464T>G | CA348233392 | MERTK | c.1949T>G (p.Ile650Ser) c.1421T>G (p.Ile474Ser) c.*1422T>G (n.*1422T>G) c.914T>G (p.Ile305Ser) c.1760T>G (p.Ile587Ser) c.734T>G (p.Ile245Ser) | |
2 | g.112008465T>A | CA428275243 | MERTK | c.1950T>A (p.Ile650=) c.1422T>A (p.Ile474=) c.*1423T>A (n.*1423T>A) c.915T>A (p.Ile305=) c.1761T>A (p.Ile587=) c.735T>A (p.Ile245=) | |
2 | g.112008465T>C | CA428275244 | MERTK | c.1950T>C (p.Ile650=) c.1422T>C (p.Ile474=) c.*1423T>C (n.*1423T>C) c.915T>C (p.Ile305=) c.1761T>C (p.Ile587=) c.735T>C (p.Ile245=) | |
2 | g.112008465T>G | CA348233393 | MERTK | c.1950T>G (p.Ile650Met) c.1422T>G (p.Ile474Met) c.*1423T>G (n.*1423T>G) c.915T>G (p.Ile305Met) c.1761T>G (p.Ile587Met) c.735T>G (p.Ile245Met) | |
2 | g.112008466C>A | CA428275245 | MERTK | c.1951C>A (p.Arg651=) c.1423C>A (p.Arg475=) c.*1424C>A (n.*1424C>A) c.916C>A (p.Arg306=) c.1762C>A (p.Arg588=) c.736C>A (p.Arg246=) | |
2 | g.112008466C= | CA1279571261 | MERTK | c.1951C= (p.Arg651=) c.1423C= (p.Arg475=) c.*1424C= (n.*1424C=) c.916C= (p.Arg306=) c.1762C= (p.Arg588=) c.736C= (p.Arg246=) | |
2 | g.112008466C>G | CA348233395 | MERTK | c.1951C>G (p.Arg651Gly) c.1423C>G (p.Arg475Gly) c.*1424C>G (n.*1424C>G) c.916C>G (p.Arg306Gly) c.1762C>G (p.Arg588Gly) c.736C>G (p.Arg246Gly) | |
2 | g.112008466C>T | CA253474 | MERTK | c.1951C>T (p.Arg651Ter) c.1423C>T (p.Arg475Ter) c.*1424C>T (n.*1424C>T) c.916C>T (p.Arg306Ter) c.1762C>T (p.Arg588Ter) c.736C>T (p.Arg246Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.112008467G>A | CA1831594 | MERTK | c.1952G>A (p.Arg651Gln) c.1424G>A (p.Arg475Gln) c.*1425G>A (n.*1425G>A) c.917G>A (p.Arg306Gln) c.1763G>A (p.Arg588Gln) c.737G>A (p.Arg246Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.112008467G>C | CA348233399 | MERTK | c.1952G>C (p.Arg651Pro) c.1424G>C (p.Arg475Pro) c.*1425G>C (n.*1425G>C) c.917G>C (p.Arg306Pro) c.1763G>C (p.Arg588Pro) c.737G>C (p.Arg246Pro) | |
2 | g.112008467G= | CA1279571262 | MERTK | c.1952G= (p.Arg651=) c.1424G= (p.Arg475=) c.*1425G= (n.*1425G=) c.917G= (p.Arg306=) c.1763G= (p.Arg588=) c.737G= (p.Arg246=) | |
2 | g.112008467G>T | CA348233400 | MERTK | c.1952G>T (p.Arg651Leu) c.1424G>T (p.Arg475Leu) c.*1425G>T (n.*1425G>T) c.917G>T (p.Arg306Leu) c.1763G>T (p.Arg588Leu) c.737G>T (p.Arg246Leu) | |
2 | g.112008468A= | CA1279571263 | MERTK | c.1953A= (p.Arg651=) c.1425A= (p.Arg475=) c.*1426A= (n.*1426A=) c.918A= (p.Arg306=) c.1764A= (p.Arg588=) c.738A= (p.Arg246=) | |
2 | g.112008468A>C | CA428275246 | MERTK | c.1953A>C (p.Arg651=) c.1425A>C (p.Arg475=) c.*1426A>C (n.*1426A>C) c.918A>C (p.Arg306=) c.1764A>C (p.Arg588=) c.738A>C (p.Arg246=) | |
2 | g.112008468A>G | CA428275247 | MERTK | c.1953A>G (p.Arg651=) c.1425A>G (p.Arg475=) c.*1426A>G (n.*1426A>G) c.918A>G (p.Arg306=) c.1764A>G (p.Arg588=) c.738A>G (p.Arg246=) | |
2 | g.112008468A>T | CA428275248 | MERTK | c.1953A>T (p.Arg651=) c.1425A>T (p.Arg475=) c.*1426A>T (n.*1426A>T) c.918A>T (p.Arg306=) c.1764A>T (p.Arg588=) c.738A>T (p.Arg246=) | dbSNP |
2 | g.112008469C>A | CA348233402 | MERTK | c.1954C>A (p.Leu652Ile) c.1426C>A (p.Leu476Ile) c.*1427C>A (n.*1427C>A) c.919C>A (p.Leu307Ile) c.1765C>A (p.Leu589Ile) c.739C>A (p.Leu247Ile) | |
2 | g.112008469C>G | CA348233404 | MERTK | c.1954C>G (p.Leu652Val) c.1426C>G (p.Leu476Val) c.*1427C>G (n.*1427C>G) c.919C>G (p.Leu307Val) c.1765C>G (p.Leu589Val) c.739C>G (p.Leu247Val) | |
2 | g.112008469C>T | CA348233406 | MERTK | c.1954C>T (p.Leu652Phe) c.1426C>T (p.Leu476Phe) c.*1427C>T (n.*1427C>T) c.919C>T (p.Leu307Phe) c.1765C>T (p.Leu589Phe) c.739C>T (p.Leu247Phe) | gnomAD v4 |
2 | g.112008470T>A | CA348233410 | MERTK | c.1955T>A (p.Leu652His) c.1427T>A (p.Leu476His) c.*1428T>A (n.*1428T>A) c.920T>A (p.Leu307His) c.1766T>A (p.Leu589His) c.740T>A (p.Leu247His) | |
2 | g.112008470T>C | CA348233411 | MERTK | c.1955T>C (p.Leu652Pro) c.1427T>C (p.Leu476Pro) c.*1428T>C (n.*1428T>C) c.920T>C (p.Leu307Pro) c.1766T>C (p.Leu589Pro) c.740T>C (p.Leu247Pro) | |
2 | g.112008470T>G | CA348233415 | MERTK | c.1955T>G (p.Leu652Arg) c.1427T>G (p.Leu476Arg) c.*1428T>G (n.*1428T>G) c.920T>G (p.Leu307Arg) c.1766T>G (p.Leu589Arg) c.740T>G (p.Leu247Arg) | |
2 | g.112008477_112008723del | CA2751719910 | MERTK | c.1960+2_1960+248del c.1432+2_1432+248del c.*1433+2_*1433+248del c.925+2_926-79del c.1771+2_1771+248del c.745+2_745+248del | |
2 | g.112008471T>A | CA428275250 | MERTK | c.1956T>A (p.Leu652=) c.1428T>A (p.Leu476=) c.*1429T>A (n.*1429T>A) c.921T>A (p.Leu307=) c.1767T>A (p.Leu589=) c.741T>A (p.Leu247=) | |
2 | g.112008471T>C | CA428275251 | MERTK | c.1956T>C (p.Leu652=) c.1428T>C (p.Leu476=) c.*1429T>C (n.*1429T>C) c.921T>C (p.Leu307=) c.1767T>C (p.Leu589=) c.741T>C (p.Leu247=) | |
2 | g.112008471T>G | CA428275249 | MERTK | c.1956T>G (p.Leu652=) c.1428T>G (p.Leu476=) c.*1429T>G (n.*1429T>G) c.921T>G (p.Leu307=) c.1767T>G (p.Leu589=) c.741T>G (p.Leu247=) | |
2 | g.112008472C>A | CA348233416 | MERTK | c.1957C>A (p.Leu653Ile) c.1429C>A (p.Leu477Ile) c.*1430C>A (n.*1430C>A) c.922C>A (p.Leu308Ile) c.1768C>A (p.Leu590Ile) c.742C>A (p.Leu248Ile) | |
2 | g.112008472C= | CA1279571264 | MERTK | c.1957C= (p.Leu653=) c.1429C= (p.Leu477=) c.*1430C= (n.*1430C=) c.922C= (p.Leu308=) c.1768C= (p.Leu590=) c.742C= (p.Leu248=) | |
2 | g.112008472C>G | CA348233418 | MERTK | c.1957C>G (p.Leu653Val) c.1429C>G (p.Leu477Val) c.*1430C>G (n.*1430C>G) c.922C>G (p.Leu308Val) c.1768C>G (p.Leu590Val) c.742C>G (p.Leu248Val) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.112008472C>T | CA428275252 | MERTK | c.1957C>T (p.Leu653=) c.1429C>T (p.Leu477=) c.*1430C>T (n.*1430C>T) c.922C>T (p.Leu308=) c.1768C>T (p.Leu590=) c.742C>T (p.Leu248=) | |
2 | g.112008473T>A | CA348233420 | MERTK | c.1958T>A (p.Leu653Gln) c.1430T>A (p.Leu477Gln) c.*1431T>A (n.*1431T>A) c.923T>A (p.Leu308Gln) c.1769T>A (p.Leu590Gln) c.743T>A (p.Leu248Gln) | |
2 | g.112008473T>C | CA53582433 | MERTK | c.1958T>C (p.Leu653Pro) c.1430T>C (p.Leu477Pro) c.*1431T>C (n.*1431T>C) c.923T>C (p.Leu308Pro) c.1769T>C (p.Leu590Pro) c.743T>C (p.Leu248Pro) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.112008473T>G | CA348233423 | MERTK | c.1958T>G (p.Leu653Arg) c.1430T>G (p.Leu477Arg) c.*1431T>G (n.*1431T>G) c.923T>G (p.Leu308Arg) c.1769T>G (p.Leu590Arg) c.743T>G (p.Leu248Arg) | |
2 | g.112008473T= | CA1279571265 | MERTK | c.1958T= (p.Leu653=) c.1430T= (p.Leu477=) c.*1431T= (n.*1431T=) c.923T= (p.Leu308=) c.1769T= (p.Leu590=) c.743T= (p.Leu248=) | |
2 | g.112008474A>C | CA428275255 | MERTK | c.1959A>C (p.Leu653=) c.1431A>C (p.Leu477=) c.*1432A>C (n.*1432A>C) c.924A>C (p.Leu308=) c.1770A>C (p.Leu590=) c.744A>C (p.Leu248=) | |
2 | g.112008474A>G | CA428275254 | MERTK | c.1959A>G (p.Leu653=) c.1431A>G (p.Leu477=) c.*1432A>G (n.*1432A>G) c.924A>G (p.Leu308=) c.1770A>G (p.Leu590=) c.744A>G (p.Leu248=) | gnomAD v4 |
2 | g.112008474A>T | CA428275253 | MERTK | c.1959A>T (p.Leu653=) c.1431A>T (p.Leu477=) c.*1432A>T (n.*1432A>T) c.924A>T (p.Leu308=) c.1770A>T (p.Leu590=) c.744A>T (p.Leu248=) | |
2 | g.112008475G>A | CA348233429 | MERTK | c.1960G>A (p.Gly654Ser) c.1432G>A (p.Gly478Ser) c.*1433G>A (n.*1433G>A) c.925G>A (p.Gly309Arg) c.1771G>A (p.Gly591Ser) c.745G>A (p.Gly249Ser) | |
2 | g.112008475G>C | CA348233427 | MERTK | c.1960G>C (p.Gly654Arg) c.1432G>C (p.Gly478Arg) c.*1433G>C (n.*1433G>C) c.925G>C (p.Gly309Arg) c.1771G>C (p.Gly591Arg) c.745G>C (p.Gly249Arg) | |
2 | g.112008475G= | CA1279571266 | MERTK | c.1960G= (p.Gly654=) c.1432G= (p.Gly478=) c.*1433G= (n.*1433G=) c.925G= (p.Gly309=) c.1771G= (p.Gly591=) c.745G= (p.Gly249=) | |
2 | g.112008475G>T | CA348233425 | MERTK | c.1960G>T (p.Gly654Cys) c.1432G>T (p.Gly478Cys) c.*1433G>T (n.*1433G>T) c.925G>T (p.Gly309Trp) c.1771G>T (p.Gly591Cys) c.745G>T (p.Gly249Cys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.112008476G>A | CA348233430 | MERTK | c.1960+1G>A (n.1960+1G>A) c.1432+1G>A (n.1432+1G>A) c.*1433+1G>A (n.*1433+1G>A) c.925+1G>A (n.925+1G>A) c.1771+1G>A (n.1771+1G>A) c.745+1G>A (n.745+1G>A) | |
2 | g.112008476G>C | CA348233434 | MERTK | c.1960+1G>C (n.1960+1G>C) c.1432+1G>C (n.1432+1G>C) c.*1433+1G>C (n.*1433+1G>C) c.925+1G>C (n.925+1G>C) c.1771+1G>C (n.1771+1G>C) c.745+1G>C (n.745+1G>C) | |
2 | g.112008476G= | CA1279571267 | MERTK | c.1960+1G= (n.1960+1G=) c.1432+1G= (n.1432+1G=) c.*1433+1G= (n.*1433+1G=) c.925+1G= (n.925+1G=) c.1771+1G= (n.1771+1G=) c.745+1G= (n.745+1G=) | |
2 | g.112008476G>T | CA348233432 | MERTK | c.1960+1G>T (n.1960+1G>T) c.1432+1G>T (n.1432+1G>T) c.*1433+1G>T (n.*1433+1G>T) c.925+1G>T (n.925+1G>T) c.1771+1G>T (n.1771+1G>T) c.745+1G>T (n.745+1G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.112008477T>A | CA348233436 | MERTK | c.1960+2T>A (n.1960+2T>A) c.1432+2T>A (n.1432+2T>A) c.*1433+2T>A (n.*1433+2T>A) c.925+2T>A (n.925+2T>A) c.1771+2T>A (n.1771+2T>A) c.745+2T>A (n.745+2T>A) | |
2 | g.112008477T>C | CA348233441 | MERTK | c.1960+2T>C (n.1960+2T>C) c.1432+2T>C (n.1432+2T>C) c.*1433+2T>C (n.*1433+2T>C) c.925+2T>C (n.925+2T>C) c.1771+2T>C (n.1771+2T>C) c.745+2T>C (n.745+2T>C) | gnomAD v4 |
2 | g.112008477T>G | CA348233444 | MERTK | c.1960+2T>G (n.1960+2T>G) c.1432+2T>G (n.1432+2T>G) c.*1433+2T>G (n.*1433+2T>G) c.925+2T>G (n.925+2T>G) c.1771+2T>G (n.1771+2T>G) c.745+2T>G (n.745+2T>G) | |
2 | g.112008478A>C | CA2739770953 | MERTK | c.1960+3A>C (n.1960+3A>C) c.1432+3A>C (n.1432+3A>C) c.*1433+3A>C (n.*1433+3A>C) c.925+3A>C (n.925+3A>C) c.1771+3A>C (n.1771+3A>C) c.745+3A>C (n.745+3A>C) | |
2 | g.112008478A>G | CA2739770954 | MERTK | c.1960+3A>G (n.1960+3A>G) c.1432+3A>G (n.1432+3A>G) c.*1433+3A>G (n.*1433+3A>G) c.925+3A>G (n.925+3A>G) c.1771+3A>G (n.1771+3A>G) c.745+3A>G (n.745+3A>G) | |
2 | g.112008478A>T | CA2739770955 | MERTK | c.1960+3A>T (n.1960+3A>T) c.1432+3A>T (n.1432+3A>T) c.*1433+3A>T (n.*1433+3A>T) c.925+3A>T (n.925+3A>T) c.1771+3A>T (n.1771+3A>T) c.745+3A>T (n.745+3A>T) | |
2 | g.112008479C>A | CA2739770956 | MERTK | c.1960+4C>A (n.1960+4C>A) c.1432+4C>A (n.1432+4C>A) c.*1433+4C>A (n.*1433+4C>A) c.925+4C>A (n.925+4C>A) c.1771+4C>A (n.1771+4C>A) c.745+4C>A (n.745+4C>A) | |
2 | g.112008479C>G | CA2739770957 | MERTK | c.1960+4C>G (n.1960+4C>G) c.1432+4C>G (n.1432+4C>G) c.*1433+4C>G (n.*1433+4C>G) c.925+4C>G (n.925+4C>G) c.1771+4C>G (n.1771+4C>G) c.745+4C>G (n.745+4C>G) | |
2 | g.112008479C>T | CA2577070608 | MERTK | c.1960+4C>T (n.1960+4C>T) c.1432+4C>T (n.1432+4C>T) c.*1433+4C>T (n.*1433+4C>T) c.925+4C>T (n.925+4C>T) c.1771+4C>T (n.1771+4C>T) c.745+4C>T (n.745+4C>T) | |
2 | g.112008480T>G | CA913088864 | MERTK | c.1960+5T>G (n.1960+5T>G) c.1432+5T>G (n.1432+5T>G) c.*1433+5T>G (n.*1433+5T>G) c.925+5T>G (n.925+5T>G) c.1771+5T>G (n.1771+5T>G) c.745+5T>G (n.745+5T>G) | |
2 | g.112008481T>A | CA2739770958 | MERTK | c.1960+6T>A (n.1960+6T>A) c.1432+6T>A (n.1432+6T>A) c.*1433+6T>A (n.*1433+6T>A) c.925+6T>A (n.925+6T>A) c.1771+6T>A (n.1771+6T>A) c.745+6T>A (n.745+6T>A) | |
2 | g.112008481T>C | CA2739770959 | MERTK | c.1960+6T>C (n.1960+6T>C) c.1432+6T>C (n.1432+6T>C) c.*1433+6T>C (n.*1433+6T>C) c.925+6T>C (n.925+6T>C) c.1771+6T>C (n.1771+6T>C) c.745+6T>C (n.745+6T>C) | |
2 | g.112008481T>G | CA2739770960 | MERTK | c.1960+6T>G (n.1960+6T>G) c.1432+6T>G (n.1432+6T>G) c.*1433+6T>G (n.*1433+6T>G) c.925+6T>G (n.925+6T>G) c.1771+6T>G (n.1771+6T>G) c.745+6T>G (n.745+6T>G) |