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.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.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) | |
| 2 | g.111997391G>T | CA348231325 | MERTK | c.1519G>T (p.Gly507Cys) c.991G>T (p.Gly331Cys) c.*992G>T (n.*992G>T) n.22G>T c.488G>T (p.Trp163Leu) c.1330G>T (p.Gly444Cys) c.304G>T (p.Gly102Cys) | |
| 2 | g.111997392G>A | CA53574428 | MERTK | c.1520G>A (p.Gly507Asp) c.992G>A (p.Gly331Asp) c.*993G>A (n.*993G>A) n.23G>A c.489G>A (p.Trp163Ter) c.1331G>A (p.Gly444Asp) c.305G>A (p.Gly102Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.111997392G>C | CA348231329 | MERTK | c.1520G>C (p.Gly507Ala) c.992G>C (p.Gly331Ala) c.*993G>C (n.*993G>C) n.23G>C c.489G>C (p.Trp163Cys) c.1331G>C (p.Gly444Ala) c.305G>C (p.Gly102Ala) | |
| 2 | g.111997392G= | CA1279566561 | MERTK | c.1520G= (p.Gly507=) c.992G= (p.Gly331=) c.*993G= (n.*993G=) n.23G= c.489G= (p.Trp163=) c.1331G= (p.Gly444=) c.305G= (p.Gly102=) | |
| 2 | g.111997392G>T | CA348231330 | MERTK | c.1520G>T (p.Gly507Val) c.992G>T (p.Gly331Val) c.*993G>T (n.*993G>T) n.23G>T c.489G>T (p.Trp163Cys) c.1331G>T (p.Gly444Val) c.305G>T (p.Gly102Val) | gnomAD v4 |
| 2 | g.111997393C>A | CA348231331 | MERTK | c.1521C>A (p.Gly507=) c.993C>A (p.Gly331=) c.*994C>A (n.*994C>A) n.24C>A c.490C>A (p.Leu164Met) c.1332C>A (p.Gly444=) c.306C>A (p.Gly102=) | |
| 2 | g.111997393C= | CA1279566562 | MERTK | c.1521C= (p.Gly507=) c.993C= (p.Gly331=) c.*994C= (n.*994C=) n.24C= c.490C= (p.Leu164=) c.1332C= (p.Gly444=) c.306C= (p.Gly102=) | |
| 2 | g.111997393C>G | CA348231332 | MERTK | c.1521C>G (p.Gly507=) c.993C>G (p.Gly331=) c.*994C>G (n.*994C>G) n.24C>G c.490C>G (p.Leu164Val) c.1332C>G (p.Gly444=) c.306C>G (p.Gly102=) | |
| 2 | g.111997393C>T | CA428274279 | MERTK | c.1521C>T (p.Gly507=) c.993C>T (p.Gly331=) c.*994C>T (n.*994C>T) n.24C>T c.490C>T (p.Leu164=) c.1332C>T (p.Gly444=) c.306C>T (p.Gly102=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.111997394T>A | CA348231334 | MERTK | c.1522T>A (p.Cys508Ser) c.994T>A (p.Cys332Ser) c.*995T>A (n.*995T>A) n.25T>A c.491T>A (p.Leu164Gln) c.1333T>A (p.Cys445Ser) c.307T>A (p.Cys103Ser) | |
| 2 | g.111997394T>C | CA348231336 | MERTK | c.1522T>C (p.Cys508Arg) c.994T>C (p.Cys332Arg) c.*995T>C (n.*995T>C) n.25T>C c.491T>C (p.Leu164Pro) c.1333T>C (p.Cys445Arg) c.307T>C (p.Cys103Arg) | |
| 2 | g.111997394T>G | CA348231337 | MERTK | c.1522T>G (p.Cys508Gly) c.994T>G (p.Cys332Gly) c.*995T>G (n.*995T>G) n.25T>G c.491T>G (p.Leu164Arg) c.1333T>G (p.Cys445Gly) c.307T>G (p.Cys103Gly) | |
| 2 | g.111997395G>A | CA348231339 | MERTK | c.1523G>A (p.Cys508Tyr) c.995G>A (p.Cys332Tyr) c.*996G>A (n.*996G>A) n.26G>A c.492G>A (p.Leu164=) c.1334G>A (p.Cys445Tyr) c.308G>A (p.Cys103Tyr) | |
| 2 | g.111997395G>C | CA348231341 | MERTK | c.1523G>C (p.Cys508Ser) c.995G>C (p.Cys332Ser) c.*996G>C (n.*996G>C) n.26G>C c.492G>C (p.Leu164=) c.1334G>C (p.Cys445Ser) c.308G>C (p.Cys103Ser) | |
| 2 | g.111997395G>T | CA348231342 | MERTK | c.1523G>T (p.Cys508Phe) c.995G>T (p.Cys332Phe) c.*996G>T (n.*996G>T) n.26G>T c.492G>T (p.Leu164=) c.1334G>T (p.Cys445Phe) c.308G>T (p.Cys103Phe) | |
| 2 | g.111997396C>A | CA348231347 | MERTK | c.1524C>A (p.Cys508Ter) c.996C>A (p.Cys332Ter) c.*997C>A (n.*997C>A) n.27C>A c.493C>A (p.Leu165Ile) c.1335C>A (p.Cys445Ter) c.309C>A (p.Cys103Ter) | |
| 2 | g.111997396C>G | CA348231344 | MERTK | c.1524C>G (p.Cys508Trp) c.996C>G (p.Cys332Trp) c.*997C>G (n.*997C>G) n.27C>G c.493C>G (p.Leu165Val) c.1335C>G (p.Cys445Trp) c.309C>G (p.Cys103Trp) | |
| 2 | g.111997396C>T | CA348231346 | MERTK | c.1524C>T (p.Cys508=) c.996C>T (p.Cys332=) c.*997C>T (n.*997C>T) n.27C>T c.493C>T (p.Leu165Phe) c.1335C>T (p.Cys445=) c.309C>T (p.Cys103=) | |
| 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) | |
| 2 | g.111997411T>A | CA348231416 | MERTK | c.1539T>A (p.Ile513=) c.1011T>A (p.Ile337=) c.*1012T>A (n.*1012T>A) n.42T>A c.505-1T>A (n.505-1T>A) c.1350T>A (p.Ile450=) c.324T>A (p.Ile108=) | |
| 2 | g.111997411T>C | CA348231417 | MERTK | c.1539T>C (p.Ile513=) c.1011T>C (p.Ile337=) c.*1012T>C (n.*1012T>C) n.42T>C c.505-1T>C (n.505-1T>C) c.1350T>C (p.Ile450=) c.324T>C (p.Ile108=) | |
| 2 | g.111997411T>G | CA348231419 | MERTK | c.1539T>G (p.Ile513Met) c.1011T>G (p.Ile337Met) c.*1012T>G (n.*1012T>G) n.42T>G c.505-1T>G (n.505-1T>G) c.1350T>G (p.Ile450Met) c.324T>G (p.Ile108Met) | gnomAD v4 |
| 2 | g.111997412T>A | CA348231420 | MERTK | c.1540T>A (p.Leu514Met) c.1012T>A (p.Leu338Met) c.*1013T>A (n.*1013T>A) n.43T>A c.505T>A (p.Leu169Met) c.1351T>A (p.Leu451Met) c.325T>A (p.Leu109Met) | |
| 2 | g.111997412T>C | CA428274288 | MERTK | c.1540T>C (p.Leu514=) c.1012T>C (p.Leu338=) c.*1013T>C (n.*1013T>C) n.43T>C c.505T>C (p.Leu169=) c.1351T>C (p.Leu451=) c.325T>C (p.Leu109=) | |
| 2 | g.111997412T>G | CA348231422 | MERTK | c.1540T>G (p.Leu514Val) c.1012T>G (p.Leu338Val) c.*1013T>G (n.*1013T>G) n.43T>G c.505T>G (p.Leu169Val) c.1351T>G (p.Leu451Val) c.325T>G (p.Leu109Val) | |
| 2 | g.111997413T>A | CA348231424 | MERTK | c.1541T>A (p.Leu514Ter) c.1013T>A (p.Leu338Ter) c.*1014T>A (n.*1014T>A) n.44T>A c.506T>A (p.Leu169Ter) c.1352T>A (p.Leu451Ter) c.326T>A (p.Leu109Ter) | |
| 2 | g.111997413T>C | CA1831455 | MERTK | c.1541T>C (p.Leu514Ser) c.1013T>C (p.Leu338Ser) c.*1014T>C (n.*1014T>C) n.44T>C c.506T>C (p.Leu169Ser) c.1352T>C (p.Leu451Ser) c.326T>C (p.Leu109Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.111997413T>G | CA348231425 | MERTK | c.1541T>G (p.Leu514Trp) c.1013T>G (p.Leu338Trp) c.*1014T>G (n.*1014T>G) n.44T>G c.506T>G (p.Leu169Trp) c.1352T>G (p.Leu451Trp) c.326T>G (p.Leu109Trp) | |
| 2 | g.111997413T= | CA1279566569 | MERTK | c.1541T= (p.Leu514=) c.1013T= (p.Leu338=) c.*1014T= (n.*1014T=) n.44T= c.506T= (p.Leu169=) c.1352T= (p.Leu451=) c.326T= (p.Leu109=) | |
| 2 | g.111997414G>A | CA428274289 | MERTK | c.1542G>A (p.Leu514=) c.1014G>A (p.Leu338=) c.*1015G>A (n.*1015G>A) n.45G>A c.507G>A (p.Leu169=) c.1353G>A (p.Leu451=) c.327G>A (p.Leu109=) | |
| 2 | g.111997414G>C | CA348231426 | MERTK | c.1542G>C (p.Leu514Phe) c.1014G>C (p.Leu338Phe) c.*1015G>C (n.*1015G>C) n.45G>C c.507G>C (p.Leu169Phe) c.1353G>C (p.Leu451Phe) c.327G>C (p.Leu109Phe) | gnomAD v4 |
| 2 | g.111997414G>T | CA348231427 | MERTK | c.1542G>T (p.Leu514Phe) c.1014G>T (p.Leu338Phe) c.*1015G>T (n.*1015G>T) n.45G>T c.507G>T (p.Leu169Phe) c.1353G>T (p.Leu451Phe) c.327G>T (p.Leu109Phe) | gnomAD v4 |
| 2 | g.111997415A>C | CA348231428 | MERTK | c.1543A>C (p.Ile515Leu) c.1015A>C (p.Ile339Leu) c.*1016A>C (n.*1016A>C) n.46A>C c.508A>C (p.Ile170Leu) c.1354A>C (p.Ile452Leu) c.328A>C (p.Ile110Leu) | |
| 2 | g.111997415A>G | CA348231429 | MERTK | c.1543A>G (p.Ile515Val) c.1015A>G (p.Ile339Val) c.*1016A>G (n.*1016A>G) n.46A>G c.508A>G (p.Ile170Val) c.1354A>G (p.Ile452Val) c.328A>G (p.Ile110Val) | gnomAD v4 |
| 2 | g.111997415A>T | CA348231430 | MERTK | c.1543A>T (p.Ile515Phe) c.1015A>T (p.Ile339Phe) c.*1016A>T (n.*1016A>T) n.46A>T c.508A>T (p.Ile170Phe) c.1354A>T (p.Ile452Phe) c.328A>T (p.Ile110Phe) | gnomAD v4 |
| 2 | g.111997416T>A | CA348231431 | MERTK | c.1544T>A (p.Ile515Asn) c.1016T>A (p.Ile339Asn) c.*1017T>A (n.*1017T>A) n.47T>A c.509T>A (p.Ile170Asn) c.1355T>A (p.Ile452Asn) c.329T>A (p.Ile110Asn) | |
| 2 | g.111997416T>C | CA348231432 | MERTK | c.1544T>C (p.Ile515Thr) c.1016T>C (p.Ile339Thr) c.*1017T>C (n.*1017T>C) n.47T>C c.509T>C (p.Ile170Thr) c.1355T>C (p.Ile452Thr) c.329T>C (p.Ile110Thr) | |
| 2 | g.111997416T>G | CA348231433 | MERTK | c.1544T>G (p.Ile515Ser) c.1016T>G (p.Ile339Ser) c.*1017T>G (n.*1017T>G) n.47T>G c.509T>G (p.Ile170Ser) c.1355T>G (p.Ile452Ser) c.329T>G (p.Ile110Ser) | COSMIC |
| 2 | g.111997417T>A | CA428274291 | MERTK | c.1545T>A (p.Ile515=) c.1017T>A (p.Ile339=) c.*1018T>A (n.*1018T>A) n.48T>A c.510T>A (p.Ile170=) c.1356T>A (p.Ile452=) c.330T>A (p.Ile110=) | |
| 2 | g.111997417T>C | CA428274292 | MERTK | c.1545T>C (p.Ile515=) c.1017T>C (p.Ile339=) c.*1018T>C (n.*1018T>C) n.48T>C c.510T>C (p.Ile170=) c.1356T>C (p.Ile452=) c.330T>C (p.Ile110=) | gnomAD v4 |
| 2 | g.111997417T>G | CA348231434 | MERTK | c.1545T>G (p.Ile515Met) c.1017T>G (p.Ile339Met) c.*1018T>G (n.*1018T>G) n.48T>G c.510T>G (p.Ile170Met) c.1356T>G (p.Ile452Met) c.330T>G (p.Ile110Met) | gnomAD v4 |
| 2 | g.111997418G>A | CA348231435 | MERTK | c.1546G>A (p.Gly516Arg) c.1018G>A (p.Gly340Arg) c.*1019G>A (n.*1019G>A) n.49G>A c.511G>A (p.Gly171Arg) c.1357G>A (p.Gly453Arg) c.331G>A (p.Gly111Arg) | ClinVar dbSNP gnomAD v4 |
| 2 | g.111997418G>C | CA348231437 | MERTK | c.1546G>C (p.Gly516Arg) c.1018G>C (p.Gly340Arg) c.*1019G>C (n.*1019G>C) n.49G>C c.511G>C (p.Gly171Arg) c.1357G>C (p.Gly453Arg) c.331G>C (p.Gly111Arg) | |
| 2 | g.111997418G= | CA1279566570 | MERTK | c.1546G= (p.Gly516=) c.1018G= (p.Gly340=) c.*1019G= (n.*1019G=) n.49G= c.511G= (p.Gly171=) c.1357G= (p.Gly453=) c.331G= (p.Gly111=) | |
| 2 | g.111997418G>T | CA348231439 | MERTK | c.1546G>T (p.Gly516Trp) c.1018G>T (p.Gly340Trp) c.*1019G>T (n.*1019G>T) n.49G>T c.511G>T (p.Gly171Trp) c.1357G>T (p.Gly453Trp) c.331G>T (p.Gly111Trp) | |
| 2 | g.111997419G>A | CA348231444 | MERTK | c.1547G>A (p.Gly516Glu) c.1019G>A (p.Gly340Glu) c.*1020G>A (n.*1020G>A) n.50G>A c.512G>A (p.Gly171Glu) c.1358G>A (p.Gly453Glu) c.332G>A (p.Gly111Glu) | |
| 2 | g.111997419G>C | CA348231442 | MERTK | c.1547G>C (p.Gly516Ala) c.1019G>C (p.Gly340Ala) c.*1020G>C (n.*1020G>C) n.50G>C c.512G>C (p.Gly171Ala) c.1358G>C (p.Gly453Ala) c.332G>C (p.Gly111Ala) | |
| 2 | g.111997419G>T | CA348231440 | MERTK | c.1547G>T (p.Gly516Val) c.1019G>T (p.Gly340Val) c.*1020G>T (n.*1020G>T) n.50G>T c.512G>T (p.Gly171Val) c.1358G>T (p.Gly453Val) c.332G>T (p.Gly111Val) | |
| 2 | g.111997420G>A | CA1831456 | MERTK | c.1548G>A (p.Gly516=) c.1020G>A (p.Gly340=) c.*1021G>A (n.*1021G>A) n.51G>A c.513G>A (p.Gly171=) c.1359G>A (p.Gly453=) c.333G>A (p.Gly111=) | dbSNP ExAC gnomAD v2 |
| 2 | g.111997420G>C | CA428274296 | MERTK | c.1548G>C (p.Gly516=) c.1020G>C (p.Gly340=) c.*1021G>C (n.*1021G>C) n.51G>C c.513G>C (p.Gly171=) c.1359G>C (p.Gly453=) c.333G>C (p.Gly111=) | |
| 2 | g.111997420G= | CA1279566571 | MERTK | c.1548G= (p.Gly516=) c.1020G= (p.Gly340=) c.*1021G= (n.*1021G=) n.51G= c.513G= (p.Gly171=) c.1359G= (p.Gly453=) c.333G= (p.Gly111=) | |
| 2 | g.111997420G>T | CA428274298 | MERTK | c.1548G>T (p.Gly516=) c.1020G>T (p.Gly340=) c.*1021G>T (n.*1021G>T) n.51G>T c.513G>T (p.Gly171=) c.1359G>T (p.Gly453=) c.333G>T (p.Gly111=) | |
| 2 | g.111997421T>A | CA348231446 | MERTK | c.1549T>A (p.Leu517Met) c.1021T>A (p.Leu341Met) c.*1022T>A (n.*1022T>A) n.52T>A c.514T>A (p.Leu172Met) c.1360T>A (p.Leu454Met) c.334T>A (p.Leu112Met) | COSMIC |
| 2 | g.111997421T>C | CA1831457 | MERTK | c.1549T>C (p.Leu517=) c.1021T>C (p.Leu341=) c.*1022T>C (n.*1022T>C) n.52T>C c.514T>C (p.Leu172=) c.1360T>C (p.Leu454=) c.334T>C (p.Leu112=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.111997421T>G | CA348231449 | MERTK | c.1549T>G (p.Leu517Val) c.1021T>G (p.Leu341Val) c.*1022T>G (n.*1022T>G) n.52T>G c.514T>G (p.Leu172Val) c.1360T>G (p.Leu454Val) c.334T>G (p.Leu112Val) | |
| 2 | g.111997421T= | CA1279566572 | MERTK | c.1549T= (p.Leu517=) c.1021T= (p.Leu341=) c.*1022T= (n.*1022T=) n.52T= c.514T= (p.Leu172=) c.1360T= (p.Leu454=) c.334T= (p.Leu112=) | |
| 2 | g.111997422T>A | CA348231450 | MERTK | c.1550T>A (p.Leu517Ter) c.1022T>A (p.Leu341Ter) c.*1023T>A (n.*1023T>A) n.53T>A c.515T>A (p.Leu172Ter) c.1361T>A (p.Leu454Ter) c.335T>A (p.Leu112Ter) | |
| 2 | g.111997422T>C | CA348231452 | MERTK | c.1550T>C (p.Leu517Ser) c.1022T>C (p.Leu341Ser) c.*1023T>C (n.*1023T>C) n.53T>C c.515T>C (p.Leu172Ser) c.1361T>C (p.Leu454Ser) c.335T>C (p.Leu112Ser) | |
| 2 | g.111997422T>G | CA348231454 | MERTK | c.1550T>G (p.Leu517Trp) c.1022T>G (p.Leu341Trp) c.*1023T>G (n.*1023T>G) n.53T>G c.515T>G (p.Leu172Trp) c.1361T>G (p.Leu454Trp) c.335T>G (p.Leu112Trp) | |
| 2 | g.111997423G>A | CA428274301 | MERTK | c.1551G>A (p.Leu517=) c.1023G>A (p.Leu341=) c.*1024G>A (n.*1024G>A) n.54G>A c.516G>A (p.Leu172=) c.1362G>A (p.Leu454=) c.336G>A (p.Leu112=) | |
| 2 | g.111997423G>C | CA348231455 | MERTK | c.1551G>C (p.Leu517Phe) c.1023G>C (p.Leu341Phe) c.*1024G>C (n.*1024G>C) n.54G>C c.516G>C (p.Leu172Phe) c.1362G>C (p.Leu454Phe) c.336G>C (p.Leu112Phe) | |
| 2 | g.111997423G>T | CA348231457 | MERTK | c.1551G>T (p.Leu517Phe) c.1023G>T (p.Leu341Phe) c.*1024G>T (n.*1024G>T) n.54G>T c.516G>T (p.Leu172Phe) c.1362G>T (p.Leu454Phe) c.336G>T (p.Leu112Phe) | |
| 2 | g.111997424A= | CA1279566573 | MERTK | c.1552A= (p.Ile518=) c.1024A= (p.Ile342=) c.*1025A= (n.*1025A=) n.55A= c.517A= (p.Ile173=) c.1363A= (p.Ile455=) c.337A= (p.Ile113=) | |
| 2 | g.111997424A>C | CA348231458 | MERTK | c.1552A>C (p.Ile518Leu) c.1024A>C (p.Ile342Leu) c.*1025A>C (n.*1025A>C) n.55A>C c.517A>C (p.Ile173Leu) c.1363A>C (p.Ile455Leu) c.337A>C (p.Ile113Leu) | |
| 2 | g.111997424A>G | CA1831458 | MERTK | c.1552A>G (p.Ile518Val) c.1024A>G (p.Ile342Val) c.*1025A>G (n.*1025A>G) n.55A>G c.517A>G (p.Ile173Val) c.1363A>G (p.Ile455Val) c.337A>G (p.Ile113Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.111997424A>T | CA348231460 | MERTK | c.1552A>T (p.Ile518Phe) c.1024A>T (p.Ile342Phe) c.*1025A>T (n.*1025A>T) n.55A>T c.517A>T (p.Ile173Phe) c.1363A>T (p.Ile455Phe) c.337A>T (p.Ile113Phe) | dbSNP COSMIC |
| 2 | g.111997425T>A | CA348231464 | MERTK | c.1553T>A (p.Ile518Asn) c.1025T>A (p.Ile342Asn) c.*1026T>A (n.*1026T>A) n.56T>A c.518T>A (p.Ile173Asn) c.1364T>A (p.Ile455Asn) c.338T>A (p.Ile113Asn) | |
| 2 | g.111997425T>C | CA348231465 | MERTK | c.1553T>C (p.Ile518Thr) c.1025T>C (p.Ile342Thr) c.*1026T>C (n.*1026T>C) n.56T>C c.518T>C (p.Ile173Thr) c.1364T>C (p.Ile455Thr) c.338T>C (p.Ile113Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.111997425T>G | CA348231462 | MERTK | c.1553T>G (p.Ile518Ser) c.1025T>G (p.Ile342Ser) c.*1026T>G (n.*1026T>G) n.56T>G c.518T>G (p.Ile173Ser) c.1364T>G (p.Ile455Ser) c.338T>G (p.Ile113Ser) | |
| 2 | g.111997425T= | CA1279566574 | MERTK | c.1553T= (p.Ile518=) c.1025T= (p.Ile342=) c.*1026T= (n.*1026T=) n.56T= c.518T= (p.Ile173=) c.1364T= (p.Ile455=) c.338T= (p.Ile113=) | |
| 2 | g.111997426T>A | CA428274303 | MERTK | c.1554T>A (p.Ile518=) c.1026T>A (p.Ile342=) c.*1027T>A (n.*1027T>A) n.57T>A c.519T>A (p.Ile173=) c.1365T>A (p.Ile455=) c.339T>A (p.Ile113=) | |
| 2 | g.111997426T>C | CA428274304 | MERTK | c.1554T>C (p.Ile518=) c.1026T>C (p.Ile342=) c.*1027T>C (n.*1027T>C) n.57T>C c.519T>C (p.Ile173=) c.1365T>C (p.Ile455=) c.339T>C (p.Ile113=) | |
| 2 | g.111997426T>G | CA348231467 | MERTK | c.1554T>G (p.Ile518Met) c.1026T>G (p.Ile342Met) c.*1027T>G (n.*1027T>G) n.57T>G c.519T>G (p.Ile173Met) c.1365T>G (p.Ile455Met) c.339T>G (p.Ile113Met) | |
| 2 | g.111997427T>A | CA348231468 | MERTK | c.1555T>A (p.Leu519Ile) c.1027T>A (p.Leu343Ile) c.*1028T>A (n.*1028T>A) n.58T>A c.520T>A (p.Leu174Ile) c.1366T>A (p.Leu456Ile) c.340T>A (p.Leu114Ile) | gnomAD v4 |
| 2 | g.111997427T>C | CA428274307 | MERTK | c.1555T>C (p.Leu519=) c.1027T>C (p.Leu343=) c.*1028T>C (n.*1028T>C) n.58T>C c.520T>C (p.Leu174=) c.1366T>C (p.Leu456=) c.340T>C (p.Leu114=) | |
| 2 | g.111997427T>G | CA348231469 | MERTK | c.1555T>G (p.Leu519Val) c.1027T>G (p.Leu343Val) c.*1028T>G (n.*1028T>G) n.58T>G c.520T>G (p.Leu174Val) c.1366T>G (p.Leu456Val) c.340T>G (p.Leu114Val) | |
| 2 | g.111997428T>A | CA348231471 | MERTK | c.1556T>A (p.Leu519Ter) c.1028T>A (p.Leu343Ter) c.*1029T>A (n.*1029T>A) n.59T>A c.521T>A (p.Leu174Ter) c.1367T>A (p.Leu456Ter) c.341T>A (p.Leu114Ter) | |
| 2 | g.111997428T>C | CA348231472 | MERTK | c.1556T>C (p.Leu519Ser) c.1028T>C (p.Leu343Ser) c.*1029T>C (n.*1029T>C) n.59T>C c.521T>C (p.Leu174Ser) c.1367T>C (p.Leu456Ser) c.341T>C (p.Leu114Ser) | |
| 2 | g.111997428T>G | CA348231473 | MERTK | c.1556T>G (p.Leu519Ter) c.1028T>G (p.Leu343Ter) c.*1029T>G (n.*1029T>G) n.59T>G c.521T>G (p.Leu174Ter) c.1367T>G (p.Leu456Ter) c.341T>G (p.Leu114Ter) | |
| 2 | g.111997429A= | CA1279566575 | MERTK | c.1557A= (p.Leu519=) c.1029A= (p.Leu343=) c.*1030A= (n.*1030A=) n.60A= c.522A= (p.Leu174=) c.1368A= (p.Leu456=) c.342A= (p.Leu114=) | |
| 2 | g.111997429A>C | CA348231475 | MERTK | c.1557A>C (p.Leu519Phe) c.1029A>C (p.Leu343Phe) c.*1030A>C (n.*1030A>C) n.60A>C c.522A>C (p.Leu174Phe) c.1368A>C (p.Leu456Phe) c.342A>C (p.Leu114Phe) | |
| 2 | g.111997429A>G | CA428274308 | MERTK | c.1557A>G (p.Leu519=) c.1029A>G (p.Leu343=) c.*1030A>G (n.*1030A>G) n.60A>G c.522A>G (p.Leu174=) c.1368A>G (p.Leu456=) c.342A>G (p.Leu114=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.111997429A>T | CA348231477 | MERTK | c.1557A>T (p.Leu519Phe) c.1029A>T (p.Leu343Phe) c.*1030A>T (n.*1030A>T) n.60A>T c.522A>T (p.Leu174Phe) c.1368A>T (p.Leu456Phe) c.342A>T (p.Leu114Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.111997430T>A | CA348231479 | MERTK | c.1558T>A (p.Tyr520Asn) c.1030T>A (p.Tyr344Asn) c.*1031T>A (n.*1031T>A) n.61T>A c.523T>A (p.Tyr175Asn) c.1369T>A (p.Tyr457Asn) c.343T>A (p.Tyr115Asn) | |
| 2 | g.111997430T>C | CA348231480 | MERTK | c.1558T>C (p.Tyr520His) c.1030T>C (p.Tyr344His) c.*1031T>C (n.*1031T>C) n.61T>C c.523T>C (p.Tyr175His) c.1369T>C (p.Tyr457His) c.343T>C (p.Tyr115His) | |
| 2 | g.111997430T>G | CA348231481 | MERTK | c.1558T>G (p.Tyr520Asp) c.1030T>G (p.Tyr344Asp) c.*1031T>G (n.*1031T>G) n.61T>G c.523T>G (p.Tyr175Asp) c.1369T>G (p.Tyr457Asp) c.343T>G (p.Tyr115Asp) | |
| 2 | g.111997431A= | CA1279566576 | MERTK | c.1559A= (p.Tyr520=) c.1031A= (p.Tyr344=) c.*1032A= (n.*1032A=) n.62A= c.524A= (p.Tyr175=) c.1370A= (p.Tyr457=) c.344A= (p.Tyr115=) | |
| 2 | g.111997431A>C | CA348231483 | MERTK | c.1559A>C (p.Tyr520Ser) c.1031A>C (p.Tyr344Ser) c.*1032A>C (n.*1032A>C) n.62A>C c.524A>C (p.Tyr175Ser) c.1370A>C (p.Tyr457Ser) c.344A>C (p.Tyr115Ser) | |
| 2 | g.111997431A>G | CA1831459 | MERTK | c.1559A>G (p.Tyr520Cys) c.1031A>G (p.Tyr344Cys) c.*1032A>G (n.*1032A>G) n.62A>G c.524A>G (p.Tyr175Cys) c.1370A>G (p.Tyr457Cys) c.344A>G (p.Tyr115Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.111997431A>T | CA348231486 | MERTK | c.1559A>T (p.Tyr520Phe) c.1031A>T (p.Tyr344Phe) c.*1032A>T (n.*1032A>T) n.62A>T c.524A>T (p.Tyr175Phe) c.1370A>T (p.Tyr457Phe) c.344A>T (p.Tyr115Phe) | |
| 2 | g.111997432C>A | CA348231488 | MERTK | c.1560C>A (p.Tyr520Ter) c.1032C>A (p.Tyr344Ter) c.*1033C>A (n.*1033C>A) n.63C>A c.525C>A (p.Tyr175Ter) c.1371C>A (p.Tyr457Ter) c.345C>A (p.Tyr115Ter) | |
| 2 | g.111997432C= | CA1279566577 | MERTK | c.1560C= (p.Tyr520=) c.1032C= (p.Tyr344=) c.*1033C= (n.*1033C=) n.63C= c.525C= (p.Tyr175=) c.1371C= (p.Tyr457=) c.345C= (p.Tyr115=) | |
| 2 | g.111997432C>G | CA348231489 | MERTK | c.1560C>G (p.Tyr520Ter) c.1032C>G (p.Tyr344Ter) c.*1033C>G (n.*1033C>G) n.63C>G c.525C>G (p.Tyr175Ter) c.1371C>G (p.Tyr457Ter) c.345C>G (p.Tyr115Ter) | |
| 2 | g.111997432C>T | CA428274310 | MERTK | c.1560C>T (p.Tyr520=) c.1032C>T (p.Tyr344=) c.*1033C>T (n.*1033C>T) n.63C>T c.525C>T (p.Tyr175=) c.1371C>T (p.Tyr457=) c.345C>T (p.Tyr115=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.111997433A= | CA1279566578 | MERTK | c.1561A= (p.Ile521=) c.1033A= (p.Ile345=) c.*1034A= (n.*1034A=) n.64A= c.526A= (p.Ile176=) c.1372A= (p.Ile458=) c.346A= (p.Ile116=) | |
| 2 | g.111997433A>C | CA348231491 | MERTK | c.1561A>C (p.Ile521Leu) c.1033A>C (p.Ile345Leu) c.*1034A>C (n.*1034A>C) n.64A>C c.526A>C (p.Ile176Leu) c.1372A>C (p.Ile458Leu) c.346A>C (p.Ile116Leu) | |
| 2 | g.111997433A>G | CA348231492 | MERTK | c.1561A>G (p.Ile521Val) c.1033A>G (p.Ile345Val) c.*1034A>G (n.*1034A>G) n.64A>G c.526A>G (p.Ile176Val) c.1372A>G (p.Ile458Val) c.346A>G (p.Ile116Val) | dbSNP |
| 2 | g.111997433A>T | CA348231494 | MERTK | c.1561A>T (p.Ile521Phe) c.1033A>T (p.Ile345Phe) c.*1034A>T (n.*1034A>T) n.64A>T c.526A>T (p.Ile176Phe) c.1372A>T (p.Ile458Phe) c.346A>T (p.Ile116Phe) | |
| 2 | g.111997434T>A | CA348231496 | MERTK | c.1562T>A (p.Ile521Asn) c.1034T>A (p.Ile345Asn) c.*1035T>A (n.*1035T>A) n.65T>A c.527T>A (p.Ile176Asn) c.1373T>A (p.Ile458Asn) c.347T>A (p.Ile116Asn) | |
| 2 | g.111997434T>C | CA348231498 | MERTK | c.1562T>C (p.Ile521Thr) c.1034T>C (p.Ile345Thr) c.*1035T>C (n.*1035T>C) n.65T>C c.527T>C (p.Ile176Thr) c.1373T>C (p.Ile458Thr) c.347T>C (p.Ile116Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.111997434T>G | CA348231499 | MERTK | c.1562T>G (p.Ile521Ser) c.1034T>G (p.Ile345Ser) c.*1035T>G (n.*1035T>G) n.65T>G c.527T>G (p.Ile176Ser) c.1373T>G (p.Ile458Ser) c.347T>G (p.Ile116Ser) | |
| 2 | g.111997434T= | CA1279566579 | MERTK | c.1562T= (p.Ile521=) c.1034T= (p.Ile345=) c.*1035T= (n.*1035T=) n.65T= c.527T= (p.Ile176=) c.1373T= (p.Ile458=) c.347T= (p.Ile116=) | |
| 2 | g.111997435C>A | CA428274314 | MERTK | c.1563C>A (p.Ile521=) c.1035C>A (p.Ile345=) c.*1036C>A (n.*1036C>A) n.66C>A c.528C>A (p.Ile176=) c.1374C>A (p.Ile458=) c.348C>A (p.Ile116=) | |
| 2 | g.111997435C>G | CA348231501 | MERTK | c.1563C>G (p.Ile521Met) c.1035C>G (p.Ile345Met) c.*1036C>G (n.*1036C>G) n.66C>G c.528C>G (p.Ile176Met) c.1374C>G (p.Ile458Met) c.348C>G (p.Ile116Met) | |
| 2 | g.111997435C>T | CA428274315 | MERTK | c.1563C>T (p.Ile521=) c.1035C>T (p.Ile345=) c.*1036C>T (n.*1036C>T) n.66C>T c.528C>T (p.Ile176=) c.1374C>T (p.Ile458=) c.348C>T (p.Ile116=) | gnomAD v4 |
| 2 | g.111997436T>A | CA348231502 | MERTK | c.1564T>A (p.Ser522Thr) c.1036T>A (p.Ser346Thr) c.*1037T>A (n.*1037T>A) n.67T>A c.529T>A (p.Ser177Thr) c.1375T>A (p.Ser459Thr) c.349T>A (p.Ser117Thr) | |
| 2 | g.111997436T>C | CA348231503 | MERTK | c.1564T>C (p.Ser522Pro) c.1036T>C (p.Ser346Pro) c.*1037T>C (n.*1037T>C) n.67T>C c.529T>C (p.Ser177Pro) c.1375T>C (p.Ser459Pro) c.349T>C (p.Ser117Pro) | |
| 2 | g.111997436T>G | CA348231505 | MERTK | c.1564T>G (p.Ser522Ala) c.1036T>G (p.Ser346Ala) c.*1037T>G (n.*1037T>G) n.67T>G c.529T>G (p.Ser177Ala) c.1375T>G (p.Ser459Ala) c.349T>G (p.Ser117Ala) | |
| 2 | g.111997437C>A | CA348231507 | MERTK | c.1565C>A (p.Ser522Tyr) c.1037C>A (p.Ser346Tyr) c.*1038C>A (n.*1038C>A) n.68C>A c.530C>A (p.Ser177Tyr) c.1376C>A (p.Ser459Tyr) c.350C>A (p.Ser117Tyr) | dbSNP |
| 2 | g.111997437C= | CA1279566580 | MERTK | c.1565C= (p.Ser522=) c.1037C= (p.Ser346=) c.*1038C= (n.*1038C=) n.68C= c.530C= (p.Ser177=) c.1376C= (p.Ser459=) c.350C= (p.Ser117=) | |
| 2 | g.111997437C>G | CA348231508 | MERTK | c.1565C>G (p.Ser522Cys) c.1037C>G (p.Ser346Cys) c.*1038C>G (n.*1038C>G) n.68C>G c.530C>G (p.Ser177Cys) c.1376C>G (p.Ser459Cys) c.350C>G (p.Ser117Cys) | |
| 2 | g.111997437C>T | CA1831460 | MERTK | c.1565C>T (p.Ser522Phe) c.1037C>T (p.Ser346Phe) c.*1038C>T (n.*1038C>T) n.68C>T c.530C>T (p.Ser177Phe) c.1376C>T (p.Ser459Phe) c.350C>T (p.Ser117Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.111997438C>A | CA428274317 | MERTK | c.1566C>A (p.Ser522=) c.1038C>A (p.Ser346=) c.*1039C>A (n.*1039C>A) n.69C>A c.531C>A (p.Ser177=) c.1377C>A (p.Ser459=) c.351C>A (p.Ser117=) | |
| 2 | g.111997438C>G | CA428274318 | MERTK | c.1566C>G (p.Ser522=) c.1038C>G (p.Ser346=) c.*1039C>G (n.*1039C>G) n.69C>G c.531C>G (p.Ser177=) c.1377C>G (p.Ser459=) c.351C>G (p.Ser117=) | |
| 2 | g.111997438C>T | CA428274319 | MERTK | c.1566C>T (p.Ser522=) c.1038C>T (p.Ser346=) c.*1039C>T (n.*1039C>T) n.69C>T c.531C>T (p.Ser177=) c.1377C>T (p.Ser459=) c.351C>T (p.Ser117=) | COSMIC |
| 2 | g.111997439T>A | CA348231511 | MERTK | c.1567T>A (p.Leu523Met) c.1039T>A (p.Leu347Met) c.*1040T>A (n.*1040T>A) n.70T>A c.532T>A (p.Leu178Met) c.1378T>A (p.Leu460Met) c.352T>A (p.Leu118Met) | |
| 2 | g.111997439T>C | CA428274320 | MERTK | c.1567T>C (p.Leu523=) c.1039T>C (p.Leu347=) c.*1040T>C (n.*1040T>C) n.70T>C c.532T>C (p.Leu178=) c.1378T>C (p.Leu460=) c.352T>C (p.Leu118=) | |
| 2 | g.111997439T>G | CA348231512 | MERTK | c.1567T>G (p.Leu523Val) c.1039T>G (p.Leu347Val) c.*1040T>G (n.*1040T>G) n.70T>G c.532T>G (p.Leu178Val) c.1378T>G (p.Leu460Val) c.352T>G (p.Leu118Val) | |
| 2 | g.111997440T>A | CA348231514 | MERTK | c.1568T>A (p.Leu523Ter) c.1040T>A (p.Leu347Ter) c.*1041T>A (n.*1041T>A) n.71T>A c.533T>A (p.Leu178Ter) c.1379T>A (p.Leu460Ter) c.353T>A (p.Leu118Ter) | COSMIC COSMIC |
| 2 | g.111997440T>C | CA348231517 | MERTK | c.1568T>C (p.Leu523Ser) c.1040T>C (p.Leu347Ser) c.*1041T>C (n.*1041T>C) n.71T>C c.533T>C (p.Leu178Ser) c.1379T>C (p.Leu460Ser) c.353T>C (p.Leu118Ser) | |
| 2 | g.111997440T>G | CA348231515 | MERTK | c.1568T>G (p.Leu523Trp) c.1040T>G (p.Leu347Trp) c.*1041T>G (n.*1041T>G) n.71T>G c.533T>G (p.Leu178Trp) c.1379T>G (p.Leu460Trp) c.353T>G (p.Leu118Trp) | |
| 2 | g.111997440_111997441insA | CA2751719123 | MERTK | c.1568_1569insA (p.Ala524GlyfsTer21) c.1040_1041insA (p.Ala348GlyfsTer21) c.*1041_*1042insA (n.*1041_*1042insA) n.71_72insA c.533_534insA (p.Ala179GlyfsTer21) c.1379_1380insA (p.Ala461GlyfsTer21) c.353_354insA (p.Ala119GlyfsTer21) | |
| 2 | g.111997441G>A | CA428274323 | MERTK | c.1569G>A (p.Leu523=) c.1041G>A (p.Leu347=) c.*1042G>A (n.*1042G>A) n.72G>A c.534G>A (p.Leu178=) c.1380G>A (p.Leu460=) c.354G>A (p.Leu118=) | gnomAD v4 |
| 2 | g.111997441G>C | CA348231519 | MERTK | c.1569G>C (p.Leu523Phe) c.1041G>C (p.Leu347Phe) c.*1042G>C (n.*1042G>C) n.72G>C c.534G>C (p.Leu178Phe) c.1380G>C (p.Leu460Phe) c.354G>C (p.Leu118Phe) | gnomAD v4 |
| 2 | g.111997441G>T | CA348231520 | MERTK | c.1569G>T (p.Leu523Phe) c.1041G>T (p.Leu347Phe) c.*1042G>T (n.*1042G>T) n.72G>T c.534G>T (p.Leu178Phe) c.1380G>T (p.Leu460Phe) c.354G>T (p.Leu118Phe) | |
| 2 | g.111997441_111997442insT | CA2751719124 | MERTK | c.1569_1570insT (p.Ala524CysfsTer21) c.1041_1042insT (p.Ala348CysfsTer21) c.*1042_*1043insT (n.*1042_*1043insT) n.72_73insT c.534_535insT (p.Ala179CysfsTer21) c.1380_1381insT (p.Ala461CysfsTer21) c.354_355insT (p.Ala119CysfsTer21) | |
| 2 | g.111997442G>A | CA348231522 | MERTK | c.1570G>A (p.Ala524Thr) c.1042G>A (p.Ala348Thr) c.*1043G>A (n.*1043G>A) n.73G>A c.535G>A (p.Ala179Thr) c.1381G>A (p.Ala461Thr) c.355G>A (p.Ala119Thr) | |
| 2 | g.111997442G>C | CA348231523 | MERTK | c.1570G>C (p.Ala524Pro) c.1042G>C (p.Ala348Pro) c.*1043G>C (n.*1043G>C) n.73G>C c.535G>C (p.Ala179Pro) c.1381G>C (p.Ala461Pro) c.355G>C (p.Ala119Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.111997442G= | CA1279566581 | MERTK | c.1570G= (p.Ala524=) c.1042G= (p.Ala348=) c.*1043G= (n.*1043G=) n.73G= c.535G= (p.Ala179=) c.1381G= (p.Ala461=) c.355G= (p.Ala119=) | |
| 2 | g.111997442G>T | CA348231525 | MERTK | c.1570G>T (p.Ala524Ser) c.1042G>T (p.Ala348Ser) c.*1043G>T (n.*1043G>T) n.73G>T c.535G>T (p.Ala179Ser) c.1381G>T (p.Ala461Ser) c.355G>T (p.Ala119Ser) | |
| 2 | g.111997443C>A | CA348231526 | MERTK | c.1571C>A (p.Ala524Asp) c.1043C>A (p.Ala348Asp) c.*1044C>A (n.*1044C>A) n.74C>A c.536C>A (p.Ala179Asp) c.1382C>A (p.Ala461Asp) c.356C>A (p.Ala119Asp) | |
| 2 | g.111997443C= | CA1279566582 | MERTK | c.1571C= (p.Ala524=) c.1043C= (p.Ala348=) c.*1044C= (n.*1044C=) n.74C= c.536C= (p.Ala179=) c.1382C= (p.Ala461=) c.356C= (p.Ala119=) | |
| 2 | g.111997443C>G | CA348231527 | MERTK | c.1571C>G (p.Ala524Gly) c.1043C>G (p.Ala348Gly) c.*1044C>G (n.*1044C>G) n.74C>G c.536C>G (p.Ala179Gly) c.1382C>G (p.Ala461Gly) c.356C>G (p.Ala119Gly) | gnomAD v4 |
| 2 | g.111997443C>T | CA348231529 | MERTK | c.1571C>T (p.Ala524Val) c.1043C>T (p.Ala348Val) c.*1044C>T (n.*1044C>T) n.74C>T c.536C>T (p.Ala179Val) c.1382C>T (p.Ala461Val) c.356C>T (p.Ala119Val) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.111997443_111997453del | CA2660689214 | MERTK | c.1571_1581del (p.Ala524GlufsTer17) c.1043_1053del (p.Ala348GlufsTer17) c.*1044_*1054del (n.*1044_*1054del) n.74_84del c.536_546del (p.Ala179GlufsTer17) c.1382_1392del (p.Ala461GlufsTer17) c.356_366del (p.Ala119GlufsTer17) | gnomAD v4 |
| 2 | g.111997444C>A | CA428274325 | MERTK | c.1572C>A (p.Ala524=) c.1044C>A (p.Ala348=) c.*1045C>A (n.*1045C>A) n.75C>A c.537C>A (p.Ala179=) c.1383C>A (p.Ala461=) c.357C>A (p.Ala119=) | |
| 2 | g.111997444C>G | CA428274327 | MERTK | c.1572C>G (p.Ala524=) c.1044C>G (p.Ala348=) c.*1045C>G (n.*1045C>G) n.75C>G c.537C>G (p.Ala179=) c.1383C>G (p.Ala461=) c.357C>G (p.Ala119=) | |
| 2 | g.111997444C>T | CA428274326 | MERTK | c.1572C>T (p.Ala524=) c.1044C>T (p.Ala348=) c.*1045C>T (n.*1045C>T) n.75C>T c.537C>T (p.Ala179=) c.1383C>T (p.Ala461=) c.357C>T (p.Ala119=) | |
| 2 | g.111997445A= | CA1279566583 | MERTK | c.1573A= (p.Ile525=) c.1045A= (p.Ile349=) c.*1046A= (n.*1046A=) n.76A= c.538A= (p.Ile180=) c.1384A= (p.Ile462=) c.358A= (p.Ile120=) | |
| 2 | g.111997445A>C | CA348231531 | MERTK | c.1573A>C (p.Ile525Leu) c.1045A>C (p.Ile349Leu) c.*1046A>C (n.*1046A>C) n.76A>C c.538A>C (p.Ile180Leu) c.1384A>C (p.Ile462Leu) c.358A>C (p.Ile120Leu) | |
| 2 | g.111997445A>G | CA348231532 | MERTK | c.1573A>G (p.Ile525Val) c.1045A>G (p.Ile349Val) c.*1046A>G (n.*1046A>G) n.76A>G c.538A>G (p.Ile180Val) c.1384A>G (p.Ile462Val) c.358A>G (p.Ile120Val) | dbSNP |
| 2 | g.111997445A>T | CA348231534 | MERTK | c.1573A>T (p.Ile525Phe) c.1045A>T (p.Ile349Phe) c.*1046A>T (n.*1046A>T) n.76A>T c.538A>T (p.Ile180Phe) c.1384A>T (p.Ile462Phe) c.358A>T (p.Ile120Phe) | |
| 2 | g.111997446T>A | CA1831461 | MERTK | c.1574T>A (p.Ile525Asn) c.1046T>A (p.Ile349Asn) c.*1047T>A (n.*1047T>A) n.77T>A c.539T>A (p.Ile180Asn) c.1385T>A (p.Ile462Asn) c.359T>A (p.Ile120Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.111997446T>C | CA348231536 | MERTK | c.1574T>C (p.Ile525Thr) c.1046T>C (p.Ile349Thr) c.*1047T>C (n.*1047T>C) n.77T>C c.539T>C (p.Ile180Thr) c.1385T>C (p.Ile462Thr) c.359T>C (p.Ile120Thr) | |
| 2 | g.111997446T>G | CA348231537 | MERTK | c.1574T>G (p.Ile525Ser) c.1046T>G (p.Ile349Ser) c.*1047T>G (n.*1047T>G) n.77T>G c.539T>G (p.Ile180Ser) c.1385T>G (p.Ile462Ser) c.359T>G (p.Ile120Ser) | |
| 2 | g.111997446T= | CA1279566584 | MERTK | c.1574T= (p.Ile525=) c.1046T= (p.Ile349=) c.*1047T= (n.*1047T=) n.77T= c.539T= (p.Ile180=) c.1385T= (p.Ile462=) c.359T= (p.Ile120=) | |
| 2 | g.111997447C>A | CA428274329 | MERTK | c.1575C>A (p.Ile525=) c.1047C>A (p.Ile349=) c.*1048C>A (n.*1048C>A) n.78C>A c.540C>A (p.Ile180=) c.1386C>A (p.Ile462=) c.360C>A (p.Ile120=) | |
| 2 | g.111997447C>G | CA348231539 | MERTK | c.1575C>G (p.Ile525Met) c.1047C>G (p.Ile349Met) c.*1048C>G (n.*1048C>G) n.78C>G c.540C>G (p.Ile180Met) c.1386C>G (p.Ile462Met) c.360C>G (p.Ile120Met) | |
| 2 | g.111997447C>T | CA428274330 | MERTK | c.1575C>T (p.Ile525=) c.1047C>T (p.Ile349=) c.*1048C>T (n.*1048C>T) n.78C>T c.540C>T (p.Ile180=) c.1386C>T (p.Ile462=) c.360C>T (p.Ile120=) | |
| 2 | g.111997448A>C | CA428274331 | MERTK | c.1576A>C (p.Arg526=) c.1048A>C (p.Arg350=) c.*1049A>C (n.*1049A>C) n.79A>C c.541A>C (p.Arg181=) c.1387A>C (p.Arg463=) c.361A>C (p.Arg121=) | |
| 2 | g.111997448A>G | CA348231541 | MERTK | c.1576A>G (p.Arg526Gly) c.1048A>G (p.Arg350Gly) c.*1049A>G (n.*1049A>G) n.79A>G c.541A>G (p.Arg181Gly) c.1387A>G (p.Arg463Gly) c.361A>G (p.Arg121Gly) | |
| 2 | g.111997448A>T | CA348231543 | MERTK | c.1576A>T (p.Arg526Ter) c.1048A>T (p.Arg350Ter) c.*1049A>T (n.*1049A>T) n.79A>T c.541A>T (p.Arg181Ter) c.1387A>T (p.Arg463Ter) c.361A>T (p.Arg121Ter) | |
| 2 | g.111997448dup | CA2751719125 | MERTK | c.1576dup (p.Arg526LysfsTer19) c.1048dup (p.Arg350LysfsTer19) c.*1049dup (n.*1049dup) n.79dup c.541dup (p.Arg181LysfsTer19) c.1387dup (p.Arg463LysfsTer19) c.361dup (p.Arg121LysfsTer19) | |
| 2 | g.111997449G>A | CA348231544 | MERTK | c.1577G>A (p.Arg526Lys) c.1049G>A (p.Arg350Lys) c.*1050G>A (n.*1050G>A) n.80G>A c.542G>A (p.Arg181Lys) c.1388G>A (p.Arg463Lys) c.362G>A (p.Arg121Lys) | |
| 2 | g.111997449G>C | CA348231546 | MERTK | c.1577G>C (p.Arg526Thr) c.1049G>C (p.Arg350Thr) c.*1050G>C (n.*1050G>C) n.80G>C c.542G>C (p.Arg181Thr) c.1388G>C (p.Arg463Thr) c.362G>C (p.Arg121Thr) | |
| 2 | g.111997449G>T | CA348231547 | MERTK | c.1577G>T (p.Arg526Ile) c.1049G>T (p.Arg350Ile) c.*1050G>T (n.*1050G>T) n.80G>T c.542G>T (p.Arg181Ile) c.1388G>T (p.Arg463Ile) c.362G>T (p.Arg121Ile) | |
| 2 | g.111997450A>C | CA348231549 | MERTK | c.1578A>C (p.Arg526Ser) c.1050A>C (p.Arg350Ser) c.*1051A>C (n.*1051A>C) n.81A>C c.543A>C (p.Arg181Ser) c.1389A>C (p.Arg463Ser) c.363A>C (p.Arg121Ser) | |
| 2 | g.111997450A>G | CA428274334 | MERTK | c.1578A>G (p.Arg526=) c.1050A>G (p.Arg350=) c.*1051A>G (n.*1051A>G) n.81A>G c.543A>G (p.Arg181=) c.1389A>G (p.Arg463=) c.363A>G (p.Arg121=) | |
| 2 | g.111997450A>T | CA348231551 | MERTK | c.1578A>T (p.Arg526Ser) c.1050A>T (p.Arg350Ser) c.*1051A>T (n.*1051A>T) n.81A>T c.543A>T (p.Arg181Ser) c.1389A>T (p.Arg463Ser) c.363A>T (p.Arg121Ser) | |
| 2 | g.111997454del | CA2660689215 | MERTK | c.1582del (p.Arg528GlufsTer18) c.1054del (p.Arg352GlufsTer18) c.*1055del (n.*1055del) n.85del c.547del (p.Arg183GlufsTer18) c.1393del (p.Arg465GlufsTer18) c.367del (p.Arg123GlufsTer18) | gnomAD v4 |
| 2 | g.111997451A>C | CA348231553 | MERTK | c.1579A>C (p.Lys527Gln) c.1051A>C (p.Lys351Gln) c.*1052A>C (n.*1052A>C) n.82A>C c.544A>C (p.Lys182Gln) c.1390A>C (p.Lys464Gln) c.364A>C (p.Lys122Gln) | |
| 2 | g.111997451A>G | CA348231554 | MERTK | c.1579A>G (p.Lys527Glu) c.1051A>G (p.Lys351Glu) c.*1052A>G (n.*1052A>G) n.82A>G c.544A>G (p.Lys182Glu) c.1390A>G (p.Lys464Glu) c.364A>G (p.Lys122Glu) | |
| 2 | g.111997451A>T | CA348231556 | MERTK | c.1579A>T (p.Lys527Ter) c.1051A>T (p.Lys351Ter) c.*1052A>T (n.*1052A>T) n.82A>T c.544A>T (p.Lys182Ter) c.1390A>T (p.Lys464Ter) c.364A>T (p.Lys122Ter) | |
| 2 | g.111997452A>C | CA348231559 | MERTK | c.1580A>C (p.Lys527Thr) c.1052A>C (p.Lys351Thr) c.*1053A>C (n.*1053A>C) n.83A>C c.545A>C (p.Lys182Thr) c.1391A>C (p.Lys464Thr) c.365A>C (p.Lys122Thr) | |
| 2 | g.111997452A>G | CA348231560 | MERTK | c.1580A>G (p.Lys527Arg) c.1052A>G (p.Lys351Arg) c.*1053A>G (n.*1053A>G) n.83A>G c.545A>G (p.Lys182Arg) c.1391A>G (p.Lys464Arg) c.365A>G (p.Lys122Arg) | |
| 2 | g.111997452A>T | CA348231558 | MERTK | c.1580A>T (p.Lys527Ile) c.1052A>T (p.Lys351Ile) c.*1053A>T (n.*1053A>T) n.83A>T c.545A>T (p.Lys182Ile) c.1391A>T (p.Lys464Ile) c.365A>T (p.Lys122Ile) | |
| 2 | g.111997453A>C | CA348231562 | MERTK | c.1581A>C (p.Lys527Asn) c.1053A>C (p.Lys351Asn) c.*1054A>C (n.*1054A>C) n.84A>C c.546A>C (p.Lys182Asn) c.1392A>C (p.Lys464Asn) c.366A>C (p.Lys122Asn) | |
| 2 | g.111997453A>G | CA428274336 | MERTK | c.1581A>G (p.Lys527=) c.1053A>G (p.Lys351=) c.*1054A>G (n.*1054A>G) n.84A>G c.546A>G (p.Lys182=) c.1392A>G (p.Lys464=) c.366A>G (p.Lys122=) | |
| 2 | g.111997453A>T | CA348231564 | MERTK | c.1581A>T (p.Lys527Asn) c.1053A>T (p.Lys351Asn) c.*1054A>T (n.*1054A>T) n.84A>T c.546A>T (p.Lys182Asn) c.1392A>T (p.Lys464Asn) c.366A>T (p.Lys122Asn) | |
| 2 | g.111997454A>C | CA428274337 | MERTK | c.1582A>C (p.Arg528=) c.1054A>C (p.Arg352=) c.*1055A>C (n.*1055A>C) n.85A>C c.547A>C (p.Arg183=) c.1393A>C (p.Arg465=) c.367A>C (p.Arg123=) | |
| 2 | g.111997454A>G | CA348231565 | MERTK | c.1582A>G (p.Arg528Gly) c.1054A>G (p.Arg352Gly) c.*1055A>G (n.*1055A>G) n.85A>G c.547A>G (p.Arg183Gly) c.1393A>G (p.Arg465Gly) c.367A>G (p.Arg123Gly) | |
| 2 | g.111997454A>T | CA348231567 | MERTK | c.1582A>T (p.Arg528Ter) c.1054A>T (p.Arg352Ter) c.*1055A>T (n.*1055A>T) n.85A>T c.547A>T (p.Arg183Ter) c.1393A>T (p.Arg465Ter) c.367A>T (p.Arg123Ter) | |
| 2 | g.111997455G>A | CA348231568 | MERTK | c.1583G>A (p.Arg528Lys) c.1055G>A (p.Arg352Lys) c.*1056G>A (n.*1056G>A) n.86G>A c.548G>A (p.Arg183Lys) c.1394G>A (p.Arg465Lys) c.368G>A (p.Arg123Lys) | |
| 2 | g.111997455G>C | CA348231570 | MERTK | c.1583G>C (p.Arg528Thr) c.1055G>C (p.Arg352Thr) c.*1056G>C (n.*1056G>C) n.86G>C c.548G>C (p.Arg183Thr) c.1394G>C (p.Arg465Thr) c.368G>C (p.Arg123Thr) | |
| 2 | g.111997455G>T | CA348231572 | MERTK | c.1583G>T (p.Arg528Ile) c.1055G>T (p.Arg352Ile) c.*1056G>T (n.*1056G>T) n.86G>T c.548G>T (p.Arg183Ile) c.1394G>T (p.Arg465Ile) c.368G>T (p.Arg123Ile) | |
| 2 | g.111997456A>C | CA348231573 | MERTK | c.1584A>C (p.Arg528Ser) c.1056A>C (p.Arg352Ser) c.*1057A>C (n.*1057A>C) n.87A>C c.549A>C (p.Arg183Ser) c.1395A>C (p.Arg465Ser) c.369A>C (p.Arg123Ser) | |
| 2 | g.111997456A>G | CA428274338 | MERTK | c.1584A>G (p.Arg528=) c.1056A>G (p.Arg352=) c.*1057A>G (n.*1057A>G) n.87A>G c.549A>G (p.Arg183=) c.1395A>G (p.Arg465=) c.369A>G (p.Arg123=) | |
| 2 | g.111997456A>T | CA348231575 | MERTK | c.1584A>T (p.Arg528Ser) c.1056A>T (p.Arg352Ser) c.*1057A>T (n.*1057A>T) n.87A>T c.549A>T (p.Arg183Ser) c.1395A>T (p.Arg465Ser) c.369A>T (p.Arg123Ser) | |
| 2 | g.111997457G>A | CA348231576 | MERTK | c.1585G>A (p.Val529Ile) c.1057G>A (p.Val353Ile) c.*1058G>A (n.*1058G>A) n.88G>A c.550G>A (p.Val184Ile) c.1396G>A (p.Val466Ile) c.370G>A (p.Val124Ile) | ClinVar dbSNP gnomAD v4 |
| 2 | g.111997457G>C | CA348231577 | MERTK | c.1585G>C (p.Val529Leu) c.1057G>C (p.Val353Leu) c.*1058G>C (n.*1058G>C) n.88G>C c.550G>C (p.Val184Leu) c.1396G>C (p.Val466Leu) c.370G>C (p.Val124Leu) | |
| 2 | g.111997457G= | CA1279566585 | MERTK | c.1585G= (p.Val529=) c.1057G= (p.Val353=) c.*1058G= (n.*1058G=) n.88G= c.550G= (p.Val184=) c.1396G= (p.Val466=) c.370G= (p.Val124=) | |
| 2 | g.111997457G>T | CA348231578 | MERTK | c.1585G>T (p.Val529Phe) c.1057G>T (p.Val353Phe) c.*1058G>T (n.*1058G>T) n.88G>T c.550G>T (p.Val184Phe) c.1396G>T (p.Val466Phe) c.370G>T (p.Val124Phe) | |
| 2 | g.111997458T>A | CA348231580 | MERTK | c.1586T>A (p.Val529Asp) c.1058T>A (p.Val353Asp) c.*1059T>A (n.*1059T>A) n.89T>A c.551T>A (p.Val184Asp) c.1397T>A (p.Val466Asp) c.371T>A (p.Val124Asp) | |
| 2 | g.111997458T>C | CA348231581 | MERTK | c.1586T>C (p.Val529Ala) c.1058T>C (p.Val353Ala) c.*1059T>C (n.*1059T>C) n.89T>C c.551T>C (p.Val184Ala) c.1397T>C (p.Val466Ala) c.371T>C (p.Val124Ala) | |
| 2 | g.111997458T>G | CA348231579 | MERTK | c.1586T>G (p.Val529Gly) c.1058T>G (p.Val353Gly) c.*1059T>G (n.*1059T>G) n.89T>G c.551T>G (p.Val184Gly) c.1397T>G (p.Val466Gly) c.371T>G (p.Val124Gly) | |
| 2 | g.111997459C>A | CA428274344 | MERTK | c.1587C>A (p.Val529=) c.1059C>A (p.Val353=) c.*1060C>A (n.*1060C>A) n.90C>A c.552C>A (p.Val184=) c.1398C>A (p.Val466=) c.372C>A (p.Val124=) | |
| 2 | g.111997459C= | CA1279566586 | MERTK | c.1587C= (p.Val529=) c.1059C= (p.Val353=) c.*1060C= (n.*1060C=) n.90C= c.552C= (p.Val184=) c.1398C= (p.Val466=) c.372C= (p.Val124=) | |
| 2 | g.111997459C>G | CA428274346 | MERTK | c.1587C>G (p.Val529=) c.1059C>G (p.Val353=) c.*1060C>G (n.*1060C>G) n.90C>G c.552C>G (p.Val184=) c.1398C>G (p.Val466=) c.372C>G (p.Val124=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.111997459C>T | CA428274345 | MERTK | c.1587C>T (p.Val529=) c.1059C>T (p.Val353=) c.*1060C>T (n.*1060C>T) n.90C>T c.552C>T (p.Val184=) c.1398C>T (p.Val466=) c.372C>T (p.Val124=) | gnomAD v4 |
| 2 | g.111997460C>A | CA348231582 | MERTK | c.1588C>A (p.Gln530Lys) c.1060C>A (p.Gln354Lys) c.*1061C>A (n.*1061C>A) n.91C>A c.553C>A (p.Gln185Lys) c.1399C>A (p.Gln467Lys) c.373C>A (p.Gln125Lys) | |
| 2 | g.111997460C>G | CA348231583 | MERTK | c.1588C>G (p.Gln530Glu) c.1060C>G (p.Gln354Glu) c.*1061C>G (n.*1061C>G) n.91C>G c.553C>G (p.Gln185Glu) c.1399C>G (p.Gln467Glu) c.373C>G (p.Gln125Glu) | |
| 2 | g.111997460C>T | CA348231584 | MERTK | c.1588C>T (p.Gln530Ter) c.1060C>T (p.Gln354Ter) c.*1061C>T (n.*1061C>T) n.91C>T c.553C>T (p.Gln185Ter) c.1399C>T (p.Gln467Ter) c.373C>T (p.Gln125Ter) | |
| 2 | g.111997461A>C | CA348231585 | MERTK | c.1589A>C (p.Gln530Pro) c.1061A>C (p.Gln354Pro) c.*1062A>C (n.*1062A>C) n.92A>C c.554A>C (p.Gln185Pro) c.1400A>C (p.Gln467Pro) c.374A>C (p.Gln125Pro) | |
| 2 | g.111997461A>G | CA348231586 | MERTK | c.1589A>G (p.Gln530Arg) c.1061A>G (p.Gln354Arg) c.*1062A>G (n.*1062A>G) n.92A>G c.554A>G (p.Gln185Arg) c.1400A>G (p.Gln467Arg) c.374A>G (p.Gln125Arg) | ClinVar dbSNP |
| 2 | g.111997461A>T | CA348231587 | MERTK | c.1589A>T (p.Gln530Leu) c.1061A>T (p.Gln354Leu) c.*1062A>T (n.*1062A>T) n.92A>T c.554A>T (p.Gln185Leu) c.1400A>T (p.Gln467Leu) c.374A>T (p.Gln125Leu) | |
| 2 | g.111997462_111997466del | CA2751719126 | MERTK | c.1590_1594del (p.Gln530HisfsTer13) c.1062_1066del (p.Gln354HisfsTer13) c.*1063_*1067del (n.*1063_*1067del) n.93_97del c.555_559del (p.Gln185HisfsTer13) c.1401_1405del (p.Gln467HisfsTer13) c.375_379del (p.Gln125HisfsTer13) | |
| 2 | g.111997462G>A | CA1831462 | MERTK | c.1590G>A (p.Gln530=) c.1062G>A (p.Gln354=) c.*1063G>A (n.*1063G>A) n.93G>A c.555G>A (p.Gln185=) c.1401G>A (p.Gln467=) c.375G>A (p.Gln125=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 2 | g.111997462G>C | CA348231588 | MERTK | c.1590G>C (p.Gln530His) c.1062G>C (p.Gln354His) c.*1063G>C (n.*1063G>C) n.93G>C c.555G>C (p.Gln185His) c.1401G>C (p.Gln467His) c.375G>C (p.Gln125His) | |
| 2 | g.111997462G= | CA1279566587 | MERTK | c.1590G= (p.Gln530=) c.1062G= (p.Gln354=) c.*1063G= (n.*1063G=) n.93G= c.555G= (p.Gln185=) c.1401G= (p.Gln467=) c.375G= (p.Gln125=) | |
| 2 | g.111997462G>T | CA348231589 | MERTK | c.1590G>T (p.Gln530His) c.1062G>T (p.Gln354His) c.*1063G>T (n.*1063G>T) n.93G>T c.555G>T (p.Gln185His) c.1401G>T (p.Gln467His) c.375G>T (p.Gln125His) | |
| 2 | g.111997463G>A | CA348231590 | MERTK | c.1591G>A (p.Glu531Lys) c.1063G>A (p.Glu355Lys) c.*1064G>A (n.*1064G>A) n.94G>A c.556G>A (p.Glu186Lys) c.1402G>A (p.Glu468Lys) c.376G>A (p.Glu126Lys) | |
| 2 | g.111997463G>C | CA348231591 | MERTK | c.1591G>C (p.Glu531Gln) c.1063G>C (p.Glu355Gln) c.*1064G>C (n.*1064G>C) n.94G>C c.556G>C (p.Glu186Gln) c.1402G>C (p.Glu468Gln) c.376G>C (p.Glu126Gln) | |
| 2 | g.111997463G>T | CA348231592 | MERTK | c.1591G>T (p.Glu531Ter) c.1063G>T (p.Glu355Ter) c.*1064G>T (n.*1064G>T) n.94G>T c.556G>T (p.Glu186Ter) c.1402G>T (p.Glu468Ter) c.376G>T (p.Glu126Ter) | |
| 2 | g.111997464del | CA2660689216 | MERTK | c.1592del (p.Glu531GlyfsTer15) c.1064del (p.Glu355GlyfsTer15) c.*1065del (n.*1065del) n.95del c.557del (p.Glu186GlyfsTer15) c.1403del (p.Glu468GlyfsTer15) c.377del (p.Glu126GlyfsTer15) | gnomAD v4 |
| 2 | g.111997464A= | CA1279566588 | MERTK | c.1592A= (p.Glu531=) c.1064A= (p.Glu355=) c.*1065A= (n.*1065A=) n.95A= c.557A= (p.Glu186=) c.1403A= (p.Glu468=) c.377A= (p.Glu126=) | |
| 2 | g.111997464A>C | CA348231593 | MERTK | c.1592A>C (p.Glu531Ala) c.1064A>C (p.Glu355Ala) c.*1065A>C (n.*1065A>C) n.95A>C c.557A>C (p.Glu186Ala) c.1403A>C (p.Glu468Ala) c.377A>C (p.Glu126Ala) | |
| 2 | g.111997464A>G | CA348231594 | MERTK | c.1592A>G (p.Glu531Gly) c.1064A>G (p.Glu355Gly) c.*1065A>G (n.*1065A>G) n.95A>G c.557A>G (p.Glu186Gly) c.1403A>G (p.Glu468Gly) c.377A>G (p.Glu126Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.111997464A>T | CA348231595 | MERTK | c.1592A>T (p.Glu531Val) c.1064A>T (p.Glu355Val) c.*1065A>T (n.*1065A>T) n.95A>T c.557A>T (p.Glu186Val) c.1403A>T (p.Glu468Val) c.377A>T (p.Glu126Val) | |
| 2 | g.111997465G>A | CA428274349 | MERTK | c.1593G>A (p.Glu531=) c.1065G>A (p.Glu355=) c.*1066G>A (n.*1066G>A) n.96G>A c.558G>A (p.Glu186=) c.1404G>A (p.Glu468=) c.378G>A (p.Glu126=) | |
| 2 | g.111997465G>C | CA348231597 | MERTK | c.1593G>C (p.Glu531Asp) c.1065G>C (p.Glu355Asp) c.*1066G>C (n.*1066G>C) n.96G>C c.558G>C (p.Glu186Asp) c.1404G>C (p.Glu468Asp) c.378G>C (p.Glu126Asp) | |
| 2 | g.111997465G>T | CA348231596 | MERTK | c.1593G>T (p.Glu531Asp) c.1065G>T (p.Glu355Asp) c.*1066G>T (n.*1066G>T) n.96G>T c.558G>T (p.Glu186Asp) c.1404G>T (p.Glu468Asp) c.378G>T (p.Glu126Asp) | |
| 2 | g.111997466A= | CA1279566589 | MERTK | c.1594A= (p.Thr532=) c.1066A= (p.Thr356=) c.*1067A= (n.*1067A=) n.97A= c.559A= (p.Thr187=) c.1405A= (p.Thr469=) c.379A= (p.Thr127=) | |
| 2 | g.111997466A>C | CA348231598 | MERTK | c.1594A>C (p.Thr532Pro) c.1066A>C (p.Thr356Pro) c.*1067A>C (n.*1067A>C) n.97A>C c.559A>C (p.Thr187Pro) c.1405A>C (p.Thr469Pro) c.379A>C (p.Thr127Pro) | |
| 2 | g.111997466A>G | CA53574456 | MERTK | c.1594A>G (p.Thr532Ala) c.1066A>G (p.Thr356Ala) c.*1067A>G (n.*1067A>G) n.97A>G c.559A>G (p.Thr187Ala) c.1405A>G (p.Thr469Ala) c.379A>G (p.Thr127Ala) | dbSNP gnomAD v4 |
| 2 | g.111997466A>T | CA348231599 | MERTK | c.1594A>T (p.Thr532Ser) c.1066A>T (p.Thr356Ser) c.*1067A>T (n.*1067A>T) n.97A>T c.559A>T (p.Thr187Ser) c.1405A>T (p.Thr469Ser) c.379A>T (p.Thr127Ser) | |
| 2 | g.111997467C>A | CA348231600 | MERTK | c.1595C>A (p.Thr532Lys) c.1067C>A (p.Thr356Lys) c.*1068C>A (n.*1068C>A) n.98C>A c.560C>A (p.Thr187Lys) c.1406C>A (p.Thr469Lys) c.380C>A (p.Thr127Lys) | gnomAD v4 |
| 2 | g.111997467C>G | CA348231602 | MERTK | c.1595C>G (p.Thr532Arg) c.1067C>G (p.Thr356Arg) c.*1068C>G (n.*1068C>G) n.98C>G c.560C>G (p.Thr187Arg) c.1406C>G (p.Thr469Arg) c.380C>G (p.Thr127Arg) | |
| 2 | g.111997467C>T | CA348231601 | MERTK | c.1595C>T (p.Thr532Ile) c.1067C>T (p.Thr356Ile) c.*1068C>T (n.*1068C>T) n.98C>T c.560C>T (p.Thr187Ile) c.1406C>T (p.Thr469Ile) c.380C>T (p.Thr127Ile) | |
| 2 | g.111997468A= | CA1279566590 | MERTK | c.1596A= (p.Thr532=) c.1068A= (p.Thr356=) c.*1069A= (n.*1069A=) n.99A= c.561A= (p.Thr187=) c.1407A= (p.Thr469=) c.381A= (p.Thr127=) | |
| 2 | g.111997468A>C | CA428274351 | MERTK | c.1596A>C (p.Thr532=) c.1068A>C (p.Thr356=) c.*1069A>C (n.*1069A>C) n.99A>C c.561A>C (p.Thr187=) c.1407A>C (p.Thr469=) c.381A>C (p.Thr127=) | COSMIC |
| 2 | g.111997468A>G | CA428274352 | MERTK | c.1596A>G (p.Thr532=) c.1068A>G (p.Thr356=) c.*1069A>G (n.*1069A>G) n.99A>G c.561A>G (p.Thr187=) c.1407A>G (p.Thr469=) c.381A>G (p.Thr127=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.111997468A>T | CA428274350 | MERTK | c.1596A>T (p.Thr532=) c.1068A>T (p.Thr356=) c.*1069A>T (n.*1069A>T) n.99A>T c.561A>T (p.Thr187=) c.1407A>T (p.Thr469=) c.381A>T (p.Thr127=) | |
| 2 | g.111997469A>C | CA348231603 | MERTK | c.1597A>C (p.Lys533Gln) c.1069A>C (p.Lys357Gln) c.*1070A>C (n.*1070A>C) n.100A>C c.562A>C (p.Lys188Gln) c.1408A>C (p.Lys470Gln) c.382A>C (p.Lys128Gln) | |
| 2 | g.111997469A>G | CA348231605 | MERTK | c.1597A>G (p.Lys533Glu) c.1069A>G (p.Lys357Glu) c.*1070A>G (n.*1070A>G) n.100A>G c.562A>G (p.Lys188Glu) c.1408A>G (p.Lys470Glu) c.382A>G (p.Lys128Glu) | |
| 2 | g.111997469A>T | CA348231604 | MERTK | c.1597A>T (p.Lys533Ter) c.1069A>T (p.Lys357Ter) c.*1070A>T (n.*1070A>T) n.100A>T c.562A>T (p.Lys188Ter) c.1408A>T (p.Lys470Ter) c.382A>T (p.Lys128Ter) | |
| 2 | g.111997470A>C | CA348231606 | MERTK | c.1598A>C (p.Lys533Thr) c.1070A>C (p.Lys357Thr) c.*1071A>C (n.*1071A>C) n.101A>C c.563A>C (p.Lys188Thr) c.1409A>C (p.Lys470Thr) c.383A>C (p.Lys128Thr) | |
| 2 | g.111997470A>G | CA348231608 | MERTK | c.1598A>G (p.Lys533Arg) c.1070A>G (p.Lys357Arg) c.*1071A>G (n.*1071A>G) n.101A>G c.563A>G (p.Lys188Arg) c.1409A>G (p.Lys470Arg) c.383A>G (p.Lys128Arg) | |
| 2 | g.111997470A>T | CA348231607 | MERTK | c.1598A>T (p.Lys533Met) c.1070A>T (p.Lys357Met) c.*1071A>T (n.*1071A>T) n.101A>T c.563A>T (p.Lys188Met) c.1409A>T (p.Lys470Met) c.383A>T (p.Lys128Met) | |
| 2 | g.111997471G>A | CA428274353 | MERTK | c.1599G>A (p.Lys533=) c.1071G>A (p.Lys357=) c.*1072G>A (n.*1072G>A) n.102G>A c.564G>A (p.Lys188=) c.1410G>A (p.Lys470=) c.384G>A (p.Lys128=) | |
| 2 | g.111997471G>C | CA348231609 | MERTK | c.1599G>C (p.Lys533Asn) c.1071G>C (p.Lys357Asn) c.*1072G>C (n.*1072G>C) n.102G>C c.564G>C (p.Lys188Asn) c.1410G>C (p.Lys470Asn) c.384G>C (p.Lys128Asn) | |
| 2 | g.111997471G>T | CA348231610 | MERTK | c.1599G>T (p.Lys533Asn) c.1071G>T (p.Lys357Asn) c.*1072G>T (n.*1072G>T) n.102G>T c.564G>T (p.Lys188Asn) c.1410G>T (p.Lys470Asn) c.384G>T (p.Lys128Asn) | COSMIC |
| 2 | g.111997472T>A | CA348231611 | MERTK | c.1600T>A (p.Phe534Ile) c.1072T>A (p.Phe358Ile) c.*1073T>A (n.*1073T>A) n.103T>A c.565T>A (p.Phe189Ile) c.1411T>A (p.Phe471Ile) c.385T>A (p.Phe129Ile) | |
| 2 | g.111997472T>C | CA348231612 | MERTK | c.1600T>C (p.Phe534Leu) c.1072T>C (p.Phe358Leu) c.*1073T>C (n.*1073T>C) n.103T>C c.565T>C (p.Phe189Leu) c.1411T>C (p.Phe471Leu) c.385T>C (p.Phe129Leu) | |
| 2 | g.111997472T>G | CA348231613 | MERTK | c.1600T>G (p.Phe534Val) c.1072T>G (p.Phe358Val) c.*1073T>G (n.*1073T>G) n.103T>G c.565T>G (p.Phe189Val) c.1411T>G (p.Phe471Val) c.385T>G (p.Phe129Val) | |
| 2 | g.111997473T>A | CA348231614 | MERTK | c.1601T>A (p.Phe534Tyr) c.1073T>A (p.Phe358Tyr) c.*1074T>A (n.*1074T>A) n.104T>A c.566T>A (p.Phe189Tyr) c.1412T>A (p.Phe471Tyr) c.386T>A (p.Phe129Tyr) | |
| 2 | g.111997473T>C | CA348231615 | MERTK | c.1601T>C (p.Phe534Ser) c.1073T>C (p.Phe358Ser) c.*1074T>C (n.*1074T>C) n.104T>C c.566T>C (p.Phe189Ser) c.1412T>C (p.Phe471Ser) c.386T>C (p.Phe129Ser) | |
| 2 | g.111997473T>G | CA348231616 | MERTK | c.1601T>G (p.Phe534Cys) c.1073T>G (p.Phe358Cys) c.*1074T>G (n.*1074T>G) n.104T>G c.566T>G (p.Phe189Cys) c.1412T>G (p.Phe471Cys) c.386T>G (p.Phe129Cys) | |
| 2 | g.111997474T>A | CA348231617 | MERTK | c.1602T>A (p.Phe534Leu) c.1074T>A (p.Phe358Leu) c.*1075T>A (n.*1075T>A) n.105T>A c.567T>A (p.Phe189Leu) c.1413T>A (p.Phe471Leu) c.387T>A (p.Phe129Leu) | |
| 2 | g.111997474T>C | CA1831463 | MERTK | c.1602T>C (p.Phe534=) c.1074T>C (p.Phe358=) c.*1075T>C (n.*1075T>C) n.105T>C c.567T>C (p.Phe189=) c.1413T>C (p.Phe471=) c.387T>C (p.Phe129=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.111997474T>G | CA348231618 | MERTK | c.1602T>G (p.Phe534Leu) c.1074T>G (p.Phe358Leu) c.*1075T>G (n.*1075T>G) n.105T>G c.567T>G (p.Phe189Leu) c.1413T>G (p.Phe471Leu) c.387T>G (p.Phe129Leu) | |
| 2 | g.111997474T= | CA1279566591 | MERTK | c.1602T= (p.Phe534=) c.1074T= (p.Phe358=) c.*1075T= (n.*1075T=) n.105T= c.567T= (p.Phe189=) c.1413T= (p.Phe471=) c.387T= (p.Phe129=) | |
| 2 | g.111997475G>A | CA348231621 | MERTK | c.1603G>A (p.Gly535Arg) c.1075G>A (p.Gly359Arg) c.*1076G>A (n.*1076G>A) n.106G>A c.568G>A (p.Gly190Arg) c.1414G>A (p.Gly472Arg) c.388G>A (p.Gly130Arg) | |
| 2 | g.111997475G>C | CA348231620 | MERTK | c.1603G>C (p.Gly535Arg) c.1075G>C (p.Gly359Arg) c.*1076G>C (n.*1076G>C) n.106G>C c.568G>C (p.Gly190Arg) c.1414G>C (p.Gly472Arg) c.388G>C (p.Gly130Arg) | |
| 2 | g.111997475G>T | CA348231619 | MERTK | c.1603G>T (p.Gly535Trp) c.1075G>T (p.Gly359Trp) c.*1076G>T (n.*1076G>T) n.106G>T c.568G>T (p.Gly190Trp) c.1414G>T (p.Gly472Trp) c.388G>T (p.Gly130Trp) | |
| 2 | g.111997476G>A | CA348231622 | MERTK | c.1604G>A (p.Gly535Glu) c.1076G>A (p.Gly359Glu) c.*1077G>A (n.*1077G>A) n.107G>A c.569G>A (p.Gly190Glu) c.1415G>A (p.Gly472Glu) c.389G>A (p.Gly130Glu) | |
| 2 | g.111997476G>C | CA348231623 | MERTK | c.1604G>C (p.Gly535Ala) c.1076G>C (p.Gly359Ala) c.*1077G>C (n.*1077G>C) n.107G>C c.569G>C (p.Gly190Ala) c.1415G>C (p.Gly472Ala) c.389G>C (p.Gly130Ala) | |
| 2 | g.111997476G>T | CA348231624 | MERTK | c.1604G>T (p.Gly535Val) c.1076G>T (p.Gly359Val) c.*1077G>T (n.*1077G>T) n.107G>T c.569G>T (p.Gly190Val) c.1415G>T (p.Gly472Val) c.389G>T (p.Gly130Val) | COSMIC COSMIC |
| 2 | g.111997477G>A | CA348231625 | MERTK | c.1604+1G>A (n.1604+1G>A) c.1076+1G>A (n.1076+1G>A) c.*1077+1G>A (n.*1077+1G>A) n.107+1G>A c.569+1G>A (n.569+1G>A) c.1415+1G>A (n.1415+1G>A) c.389+1G>A (n.389+1G>A) | dbSNP |
| 2 | g.111997477G>C | CA348231626 | MERTK | c.1604+1G>C (n.1604+1G>C) c.1076+1G>C (n.1076+1G>C) c.*1077+1G>C (n.*1077+1G>C) n.107+1G>C c.569+1G>C (n.569+1G>C) c.1415+1G>C (n.1415+1G>C) c.389+1G>C (n.389+1G>C) | |
| 2 | g.111997477G= | CA1279566592 | MERTK | c.1604+1G= (n.1604+1G=) c.1076+1G= (n.1076+1G=) c.*1077+1G= (n.*1077+1G=) n.107+1G= c.569+1G= (n.569+1G=) c.1415+1G= (n.1415+1G=) c.389+1G= (n.389+1G=) | |
| 2 | g.111997477G>T | CA348231627 | MERTK | c.1604+1G>T (n.1604+1G>T) c.1076+1G>T (n.1076+1G>T) c.*1077+1G>T (n.*1077+1G>T) n.107+1G>T c.569+1G>T (n.569+1G>T) c.1415+1G>T (n.1415+1G>T) c.389+1G>T (n.389+1G>T) | |
| 2 | g.111997478T>A | CA348231628 | MERTK | c.1604+2T>A (n.1604+2T>A) c.1076+2T>A (n.1076+2T>A) c.*1077+2T>A (n.*1077+2T>A) n.107+2T>A c.569+2T>A (n.569+2T>A) c.1415+2T>A (n.1415+2T>A) c.389+2T>A (n.389+2T>A) | |
| 2 | g.111997478T>C | CA348231629 | MERTK | c.1604+2T>C (n.1604+2T>C) c.1076+2T>C (n.1076+2T>C) c.*1077+2T>C (n.*1077+2T>C) n.107+2T>C c.569+2T>C (n.569+2T>C) c.1415+2T>C (n.1415+2T>C) c.389+2T>C (n.389+2T>C) | |
| 2 | g.111997478T>G | CA236069 | MERTK | c.1604+2T>G (n.1604+2T>G) c.1076+2T>G (n.1076+2T>G) c.*1077+2T>G (n.*1077+2T>G) n.107+2T>G c.569+2T>G (n.569+2T>G) c.1415+2T>G (n.1415+2T>G) c.389+2T>G (n.389+2T>G) | ClinVar dbSNP gnomAD v4 |
| 2 | g.111997478T= | CA1279566593 | MERTK | c.1604+2T= (n.1604+2T=) c.1076+2T= (n.1076+2T=) c.*1077+2T= (n.*1077+2T=) n.107+2T= c.569+2T= (n.569+2T=) c.1415+2T= (n.1415+2T=) c.389+2T= (n.389+2T=) | |
| 2 | g.111997479A= | CA1279566594 | MERTK | c.1604+3A= (n.1604+3A=) c.1076+3A= (n.1076+3A=) c.*1077+3A= (n.*1077+3A=) n.107+3A= c.569+3A= (n.569+3A=) c.1415+3A= (n.1415+3A=) c.389+3A= (n.389+3A=) | |
| 2 | g.111997479A>G | CA755196953 | MERTK | c.1604+3A>G (n.1604+3A>G) c.1076+3A>G (n.1076+3A>G) c.*1077+3A>G (n.*1077+3A>G) n.107+3A>G c.569+3A>G (n.569+3A>G) c.1415+3A>G (n.1415+3A>G) c.389+3A>G (n.389+3A>G) | dbSNP gnomAD v4 |
| 2 | g.111997480A= | CA1279566597 | MERTK | c.1604+4A= (n.1604+4A=) c.1076+4A= (n.1076+4A=) c.*1077+4A= (n.*1077+4A=) n.107+4A= c.569+4A= (n.569+4A=) c.1415+4A= (n.1415+4A=) c.389+4A= (n.389+4A=) | |
| 2 | g.111997480A>G | CA1279566596 | MERTK | c.1604+4A>G (n.1604+4A>G) c.1076+4A>G (n.1076+4A>G) c.*1077+4A>G (n.*1077+4A>G) n.107+4A>G c.569+4A>G (n.569+4A>G) c.1415+4A>G (n.1415+4A>G) c.389+4A>G (n.389+4A>G) | dbSNP |
| 2 | g.111997480A>T | CA2660689217 | MERTK | c.1604+4A>T (n.1604+4A>T) c.1076+4A>T (n.1076+4A>T) c.*1077+4A>T (n.*1077+4A>T) n.107+4A>T c.569+4A>T (n.569+4A>T) c.1415+4A>T (n.1415+4A>T) c.389+4A>T (n.389+4A>T) | gnomAD v4 |
| 2 | g.111997480_111997487delinsAGTCTCCC | CA1279566595 | MERTK | c.1604+4_1604+11delinsAGTCTCCC (n.1604+4_1604+11delinsAGTCTCCC) c.1076+4_1076+11delinsAGTCTCCC (n.1076+4_1076+11delinsAGTCTCCC) c.*1077+4_*1077+11delinsAGTCTCCC (n.*1077+4_*1077+11delinsAGTCTCCC) n.107+4_107+11delinsAGTCTCCC c.569+4_569+11delinsAGTCTCCC (n.569+4_569+11delinsAGTCTCCC) c.1415+4_1415+11delinsAGTCTCCC (n.1415+4_1415+11delinsAGTCTCCC) c.389+4_389+11delinsAGTCTCCC (n.389+4_389+11delinsAGTCTCCC) | |
| 2 | g.111997481G>A | CA2573133097 | MERTK | c.1604+5G>A (n.1604+5G>A) c.1076+5G>A (n.1076+5G>A) c.*1077+5G>A (n.*1077+5G>A) n.107+5G>A c.569+5G>A (n.569+5G>A) c.1415+5G>A (n.1415+5G>A) c.389+5G>A (n.389+5G>A) | ClinVar dbSNP |
| 2 | g.111997481_111997487del | CA1279566598 | MERTK | c.1604+5_1604+11del (n.1604+5_1604+11del) c.1076+5_1076+11del (n.1076+5_1076+11del) c.*1077+5_*1077+11del (n.*1077+5_*1077+11del) n.107+5_107+11del c.569+5_569+11del (n.569+5_569+11del) c.1415+5_1415+11del (n.1415+5_1415+11del) c.389+5_389+11del (n.389+5_389+11del) | ClinVar dbSNP |
| 2 | g.111997484T>G | CA2660689218 | MERTK | c.1604+8T>G (n.1604+8T>G) c.1076+8T>G (n.1076+8T>G) c.*1077+8T>G (n.*1077+8T>G) n.107+8T>G c.569+8T>G (n.569+8T>G) c.1415+8T>G (n.1415+8T>G) c.389+8T>G (n.389+8T>G) | gnomAD v4 |
| 2 | g.111997485C= | CA1279566599 | MERTK | c.1604+9C= (n.1604+9C=) c.1076+9C= (n.1076+9C=) c.*1077+9C= (n.*1077+9C=) n.107+9C= c.569+9C= (n.569+9C=) c.1415+9C= (n.1415+9C=) c.389+9C= (n.389+9C=) | |
| 2 | g.111997485C>G | CA1831464 | MERTK | c.1604+9C>G (n.1604+9C>G) c.1076+9C>G (n.1076+9C>G) c.*1077+9C>G (n.*1077+9C>G) n.107+9C>G c.569+9C>G (n.569+9C>G) c.1415+9C>G (n.1415+9C>G) c.389+9C>G (n.389+9C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.111997486C= | CA1279566600 | MERTK | c.1604+10C= (n.1604+10C=) c.1076+10C= (n.1076+10C=) c.*1077+10C= (n.*1077+10C=) n.107+10C= c.569+10C= (n.569+10C=) c.1415+10C= (n.1415+10C=) c.389+10C= (n.389+10C=) | |
| 2 | g.111997486C>G | CA1279566601 | MERTK | c.1604+10C>G (n.1604+10C>G) c.1076+10C>G (n.1076+10C>G) c.*1077+10C>G (n.*1077+10C>G) n.107+10C>G c.569+10C>G (n.569+10C>G) c.1415+10C>G (n.1415+10C>G) c.389+10C>G (n.389+10C>G) | ClinVar dbSNP gnomAD v4 |
| 2 | g.111997486_111997487insAGAT | CA2751719130 | MERTK | c.1604+10_1604+11insAGAT (n.1604+10_1604+11insAGAT) c.1076+10_1076+11insAGAT (n.1076+10_1076+11insAGAT) c.*1077+10_*1077+11insAGAT (n.*1077+10_*1077+11insAGAT) n.107+10_107+11insAGAT c.569+10_569+11insAGAT (n.569+10_569+11insAGAT) c.1415+10_1415+11insAGAT (n.1415+10_1415+11insAGAT) c.389+10_389+11insAGAT (n.389+10_389+11insAGAT) | |
| 2 | g.111997487C= | CA1279566602 | MERTK | c.1604+11C= (n.1604+11C=) c.1076+11C= (n.1076+11C=) c.*1077+11C= (n.*1077+11C=) n.107+11C= c.569+11C= (n.569+11C=) c.1415+11C= (n.1415+11C=) c.389+11C= (n.389+11C=) | |
| 2 | g.111997487C>T | CA535186018 | MERTK | c.1604+11C>T (n.1604+11C>T) c.1076+11C>T (n.1076+11C>T) c.*1077+11C>T (n.*1077+11C>T) n.107+11C>T c.569+11C>T (n.569+11C>T) c.1415+11C>T (n.1415+11C>T) c.389+11C>T (n.389+11C>T) | dbSNP gnomAD v2 gnomAD v4 |