UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.111997397T>A | CA348231349 | MERTK | c.1525T>A (p.Phe509Ile) c.997T>A (p.Phe333Ile) c.*998T>A (n.*998T>A) n.28T>A c.494T>A (p.Leu165His) c.1336T>A (p.Phe446Ile) c.310T>A (p.Phe104Ile) | |
| 2 | g.111997397T>C | CA348231350 | MERTK | c.1525T>C (p.Phe509Leu) c.997T>C (p.Phe333Leu) c.*998T>C (n.*998T>C) n.28T>C c.494T>C (p.Leu165Pro) c.1336T>C (p.Phe446Leu) c.310T>C (p.Phe104Leu) | |
| 2 | g.111997397T>G | CA348231352 | MERTK | c.1525T>G (p.Phe509Val) c.997T>G (p.Phe333Val) c.*998T>G (n.*998T>G) n.28T>G c.494T>G (p.Leu165Arg) c.1336T>G (p.Phe446Val) c.310T>G (p.Phe104Val) | dbSNP |
| 2 | g.111997397T= | CA1279566563 | MERTK | c.1525T= (p.Phe509=) c.997T= (p.Phe333=) c.*998T= (n.*998T=) n.28T= c.494T= (p.Leu165=) c.1336T= (p.Phe446=) c.310T= (p.Phe104=) | |
| 2 | g.111997398T>A | CA348231354 | MERTK | c.1526T>A (p.Phe509Tyr) c.998T>A (p.Phe333Tyr) c.*999T>A (n.*999T>A) n.29T>A c.495T>A (p.Leu165=) c.1337T>A (p.Phe446Tyr) c.311T>A (p.Phe104Tyr) | |
| 2 | g.111997398T>C | CA348231355 | MERTK | c.1526T>C (p.Phe509Ser) c.998T>C (p.Phe333Ser) c.*999T>C (n.*999T>C) n.29T>C c.495T>C (p.Leu165=) c.1337T>C (p.Phe446Ser) c.311T>C (p.Phe104Ser) | |
| 2 | g.111997398T>G | CA348231357 | MERTK | c.1526T>G (p.Phe509Cys) c.998T>G (p.Phe333Cys) c.*999T>G (n.*999T>G) n.29T>G c.495T>G (p.Leu165=) c.1337T>G (p.Phe446Cys) c.311T>G (p.Phe104Cys) | |
| 2 | g.111997398_111997399insAC | CA2751719115 | MERTK | c.1526_1527insAC (p.Phe509LeufsTer7) c.998_999insAC (p.Phe333LeufsTer7) c.*999_*1000insAC (n.*999_*1000insAC) n.29_30insAC c.495_496insAC (p.Leu166ThrfsTer5) c.1337_1338insAC (p.Phe446LeufsTer7) c.311_312insAC (p.Phe104LeufsTer7) | |
| 2 | g.111997399T>A | CA348231359 | MERTK | c.1527T>A (p.Phe509Leu) c.999T>A (p.Phe333Leu) c.*1000T>A (n.*1000T>A) n.30T>A c.496T>A (p.Leu166Met) c.1338T>A (p.Phe446Leu) c.312T>A (p.Phe104Leu) | |
| 2 | g.111997399T>C | CA428274283 | MERTK | c.1527T>C (p.Phe509=) c.999T>C (p.Phe333=) c.*1000T>C (n.*1000T>C) n.30T>C c.496T>C (p.Leu166=) c.1338T>C (p.Phe446=) c.312T>C (p.Phe104=) | |
| 2 | g.111997399T>G | CA348231361 | MERTK | c.1527T>G (p.Phe509Leu) c.999T>G (p.Phe333Leu) c.*1000T>G (n.*1000T>G) n.30T>G c.496T>G (p.Leu166Val) c.1338T>G (p.Phe446Leu) c.312T>G (p.Phe104Leu) | |
| 2 | g.111997400T>A | CA348231363 | MERTK | c.1528T>A (p.Cys510Ser) c.1000T>A (p.Cys334Ser) c.*1001T>A (n.*1001T>A) n.31T>A c.497T>A (p.Leu166Ter) c.1339T>A (p.Cys447Ser) c.313T>A (p.Cys105Ser) | |
| 2 | g.111997400T>C | CA348231364 | MERTK | c.1528T>C (p.Cys510Arg) c.1000T>C (p.Cys334Arg) c.*1001T>C (n.*1001T>C) n.31T>C c.497T>C (p.Leu166Ser) c.1339T>C (p.Cys447Arg) c.313T>C (p.Cys105Arg) | |
| 2 | g.111997400T>G | CA348231366 | MERTK | c.1528T>G (p.Cys510Gly) c.1000T>G (p.Cys334Gly) c.*1001T>G (n.*1001T>G) n.31T>G c.497T>G (p.Leu166Trp) c.1339T>G (p.Cys447Gly) c.313T>G (p.Cys105Gly) | |
| 2 | g.111997401G>A | CA348231370 | MERTK | c.1529G>A (p.Cys510Tyr) c.1001G>A (p.Cys334Tyr) c.*1002G>A (n.*1002G>A) n.32G>A c.498G>A (p.Leu166=) c.1340G>A (p.Cys447Tyr) c.314G>A (p.Cys105Tyr) | dbSNP |
| 2 | g.111997401G>C | CA348231372 | MERTK | c.1529G>C (p.Cys510Ser) c.1001G>C (p.Cys334Ser) c.*1002G>C (n.*1002G>C) n.32G>C c.498G>C (p.Leu166Phe) c.1340G>C (p.Cys447Ser) c.314G>C (p.Cys105Ser) | |
| 2 | g.111997401G= | CA1279566564 | MERTK | c.1529G= (p.Cys510=) c.1001G= (p.Cys334=) c.*1002G= (n.*1002G=) n.32G= c.498G= (p.Leu166=) c.1340G= (p.Cys447=) c.314G= (p.Cys105=) | |
| 2 | g.111997401G>T | CA348231368 | MERTK | c.1529G>T (p.Cys510Phe) c.1001G>T (p.Cys334Phe) c.*1002G>T (n.*1002G>T) n.32G>T c.498G>T (p.Leu166Phe) c.1340G>T (p.Cys447Phe) c.314G>T (p.Cys105Phe) | |
| 2 | g.111997402del | CA2586969802 | MERTK | c.1530del (p.Cys510TrpfsTer5) c.1002del (p.Cys334TrpfsTer5) c.*1003del (n.*1003del) n.33del c.499del (p.Trp167GlyfsTer3) c.1341del (p.Cys447TrpfsTer5) c.315del (p.Cys105TrpfsTer5) | |
| 2 | g.111997402T>A | CA348231373 | MERTK | c.1530T>A (p.Cys510Ter) c.1002T>A (p.Cys334Ter) c.*1003T>A (n.*1003T>A) n.33T>A c.499T>A (p.Trp167Arg) c.1341T>A (p.Cys447Ter) c.315T>A (p.Cys105Ter) | |
| 2 | g.111997402T>C | CA348231374 | MERTK | c.1530T>C (p.Cys510=) c.1002T>C (p.Cys334=) c.*1003T>C (n.*1003T>C) n.33T>C c.499T>C (p.Trp167Arg) c.1341T>C (p.Cys447=) c.315T>C (p.Cys105=) | gnomAD v4 |
| 2 | g.111997402T>G | CA348231376 | MERTK | c.1530T>G (p.Cys510Trp) c.1002T>G (p.Cys334Trp) c.*1003T>G (n.*1003T>G) n.33T>G c.499T>G (p.Trp167Gly) c.1341T>G (p.Cys447Trp) c.315T>G (p.Cys105Trp) | |
| 2 | g.111997403G>A | CA348231378 | MERTK | c.1531G>A (p.Gly511Arg) c.1003G>A (p.Gly335Arg) c.*1004G>A (n.*1004G>A) n.34G>A c.500G>A (p.Trp167Ter) c.1342G>A (p.Gly448Arg) c.316G>A (p.Gly106Arg) | COSMIC COSMIC |
| 2 | g.111997403G>C | CA348231380 | MERTK | c.1531G>C (p.Gly511Arg) c.1003G>C (p.Gly335Arg) c.*1004G>C (n.*1004G>C) n.34G>C c.500G>C (p.Trp167Ser) c.1342G>C (p.Gly448Arg) c.316G>C (p.Gly106Arg) | |
| 2 | g.111997403G>T | CA348231381 | MERTK | c.1531G>T (p.Gly511Ter) c.1003G>T (p.Gly335Ter) c.*1004G>T (n.*1004G>T) n.34G>T c.500G>T (p.Trp167Leu) c.1342G>T (p.Gly448Ter) c.316G>T (p.Gly106Ter) | |
| 2 | g.111997404G>A | CA348231383 | MERTK | c.1532G>A (p.Gly511Glu) c.1004G>A (p.Gly335Glu) c.*1005G>A (n.*1005G>A) n.35G>A c.501G>A (p.Trp167Ter) c.1343G>A (p.Gly448Glu) c.317G>A (p.Gly106Glu) | dbSNP |
| 2 | g.111997404G>C | CA348231385 | MERTK | c.1532G>C (p.Gly511Ala) c.1004G>C (p.Gly335Ala) c.*1005G>C (n.*1005G>C) n.35G>C c.501G>C (p.Trp167Cys) c.1343G>C (p.Gly448Ala) c.317G>C (p.Gly106Ala) | |
| 2 | g.111997404G= | CA1279566565 | MERTK | c.1532G= (p.Gly511=) c.1004G= (p.Gly335=) c.*1005G= (n.*1005G=) n.35G= c.501G= (p.Trp167=) c.1343G= (p.Gly448=) c.317G= (p.Gly106=) | |
| 2 | g.111997404G>T | CA348231387 | MERTK | c.1532G>T (p.Gly511Val) c.1004G>T (p.Gly335Val) c.*1005G>T (n.*1005G>T) n.35G>T c.501G>T (p.Trp167Cys) c.1343G>T (p.Gly448Val) c.317G>T (p.Gly106Val) | |
| 2 | g.111997405A= | CA1279566566 | MERTK | c.1533A= (p.Gly511=) c.1005A= (p.Gly335=) c.*1006A= (n.*1006A=) n.36A= c.502A= (p.Ile168=) c.1344A= (p.Gly448=) c.318A= (p.Gly106=) | |
| 2 | g.111997405A>C | CA348231388 | MERTK | c.1533A>C (p.Gly511=) c.1005A>C (p.Gly335=) c.*1006A>C (n.*1006A>C) n.36A>C c.502A>C (p.Ile168Leu) c.1344A>C (p.Gly448=) c.318A>C (p.Gly106=) | |
| 2 | g.111997405A>G | CA1831453 | MERTK | c.1533A>G (p.Gly511=) c.1005A>G (p.Gly335=) c.*1006A>G (n.*1006A>G) n.36A>G c.502A>G (p.Ile168Val) c.1344A>G (p.Gly448=) c.318A>G (p.Gly106=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.111997405A>T | CA348231391 | MERTK | c.1533A>T (p.Gly511=) c.1005A>T (p.Gly335=) c.*1006A>T (n.*1006A>T) n.36A>T c.502A>T (p.Ile168Phe) c.1344A>T (p.Gly448=) c.318A>T (p.Gly106=) | |
| 2 | g.111997406T>A | CA348231394 | MERTK | c.1534T>A (p.Phe512Ile) c.1006T>A (p.Phe336Ile) c.*1007T>A (n.*1007T>A) n.37T>A c.503T>A (p.Ile168Asn) c.1345T>A (p.Phe449Ile) c.319T>A (p.Phe107Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.111997406T>C | CA348231396 | MERTK | c.1534T>C (p.Phe512Leu) c.1006T>C (p.Phe336Leu) c.*1007T>C (n.*1007T>C) n.37T>C c.503T>C (p.Ile168Thr) c.1345T>C (p.Phe449Leu) c.319T>C (p.Phe107Leu) | COSMIC COSMIC |
| 2 | g.111997406T>G | CA348231393 | MERTK | c.1534T>G (p.Phe512Val) c.1006T>G (p.Phe336Val) c.*1007T>G (n.*1007T>G) n.37T>G c.503T>G (p.Ile168Ser) c.1345T>G (p.Phe449Val) c.319T>G (p.Phe107Val) | |
| 2 | g.111997406T= | CA1279566567 | MERTK | c.1534T= (p.Phe512=) c.1006T= (p.Phe336=) c.*1007T= (n.*1007T=) n.37T= c.503T= (p.Ile168=) c.1345T= (p.Phe449=) c.319T= (p.Phe107=) | |
| 2 | g.111997407T>A | CA348231398 | MERTK | c.1535T>A (p.Phe512Tyr) c.1007T>A (p.Phe336Tyr) c.*1008T>A (n.*1008T>A) n.38T>A c.504T>A (p.Ile168=) c.1346T>A (p.Phe449Tyr) c.320T>A (p.Phe107Tyr) | |
| 2 | g.111997407T>C | CA348231400 | MERTK | c.1535T>C (p.Phe512Ser) c.1007T>C (p.Phe336Ser) c.*1008T>C (n.*1008T>C) n.38T>C c.504T>C (p.Ile168=) c.1346T>C (p.Phe449Ser) c.320T>C (p.Phe107Ser) | |
| 2 | g.111997407T>G | CA348231401 | MERTK | c.1535T>G (p.Phe512Cys) c.1007T>G (p.Phe336Cys) c.*1008T>G (n.*1008T>G) n.38T>G c.504T>G (p.Ile168Met) c.1346T>G (p.Phe449Cys) c.320T>G (p.Phe107Cys) | |
| 2 | g.111997408T>A | CA348231403 | MERTK | c.1536T>A (p.Phe512Leu) c.1008T>A (p.Phe336Leu) c.*1009T>A (n.*1009T>A) n.39T>A c.504+1T>A (n.504+1T>A) c.1347T>A (p.Phe449Leu) c.321T>A (p.Phe107Leu) | |
| 2 | g.111997408T>C | CA1831454 | MERTK | c.1536T>C (p.Phe512=) c.1008T>C (p.Phe336=) c.*1009T>C (n.*1009T>C) n.39T>C c.504+1T>C (n.504+1T>C) c.1347T>C (p.Phe449=) c.321T>C (p.Phe107=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.111997408T>G | CA348231405 | MERTK | c.1536T>G (p.Phe512Leu) c.1008T>G (p.Phe336Leu) c.*1009T>G (n.*1009T>G) n.39T>G c.504+1T>G (n.504+1T>G) c.1347T>G (p.Phe449Leu) c.321T>G (p.Phe107Leu) | |
| 2 | g.111997408T= | CA1279566568 | MERTK | c.1536T= (p.Phe512=) c.1008T= (p.Phe336=) c.*1009T= (n.*1009T=) n.39T= c.504+1T= (n.504+1T=) c.1347T= (p.Phe449=) c.321T= (p.Phe107=) | |
| 2 | g.111997409A>C | CA348231410 | MERTK | c.1537A>C (p.Ile513Leu) c.1009A>C (p.Ile337Leu) c.*1010A>C (n.*1010A>C) n.40A>C c.505-3A>C (n.505-3A>C) c.1348A>C (p.Ile450Leu) c.322A>C (p.Ile108Leu) | |
| 2 | g.111997409A>G | CA348231407 | MERTK | c.1537A>G (p.Ile513Val) c.1009A>G (p.Ile337Val) c.*1010A>G (n.*1010A>G) n.40A>G c.505-3A>G (n.505-3A>G) c.1348A>G (p.Ile450Val) c.322A>G (p.Ile108Val) | |
| 2 | g.111997409A>T | CA348231408 | MERTK | c.1537A>T (p.Ile513Phe) c.1009A>T (p.Ile337Phe) c.*1010A>T (n.*1010A>T) n.40A>T c.505-3A>T (n.505-3A>T) c.1348A>T (p.Ile450Phe) c.322A>T (p.Ile108Phe) | |
| 2 | g.111997410T>A | CA348231411 | MERTK | c.1538T>A (p.Ile513Asn) c.1010T>A (p.Ile337Asn) c.*1011T>A (n.*1011T>A) n.41T>A c.505-2T>A (n.505-2T>A) c.1349T>A (p.Ile450Asn) c.323T>A (p.Ile108Asn) | |
| 2 | g.111997410T>C | CA348231412 | MERTK | c.1538T>C (p.Ile513Thr) c.1010T>C (p.Ile337Thr) c.*1011T>C (n.*1011T>C) n.41T>C c.505-2T>C (n.505-2T>C) c.1349T>C (p.Ile450Thr) c.323T>C (p.Ile108Thr) | |
| 2 | g.111997410T>G | CA348231413 | MERTK | c.1538T>G (p.Ile513Ser) c.1010T>G (p.Ile337Ser) c.*1011T>G (n.*1011T>G) n.41T>G c.505-2T>G (n.505-2T>G) c.1349T>G (p.Ile450Ser) c.323T>G (p.Ile108Ser) |