Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.111997343T>ACA53574342MERTKc.1471T>A (p.Ser491Thr)
c.943T>A (p.Ser315Thr)
c.*944T>A (n.*944T>A)
c.440T>A (p.Leu147His)
c.1282T>A (p.Ser428Thr)
c.256T>A (p.Ser86Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.111997343T>CCA348231032MERTKc.1471T>C (p.Ser491Pro)
c.943T>C (p.Ser315Pro)
c.*944T>C (n.*944T>C)
c.440T>C (p.Leu147Pro)
c.1282T>C (p.Ser428Pro)
c.256T>C (p.Ser86Pro)
2g.111997343T>GCA348231034MERTKc.1471T>G (p.Ser491Ala)
c.943T>G (p.Ser315Ala)
c.*944T>G (n.*944T>G)
c.440T>G (p.Leu147Arg)
c.1282T>G (p.Ser428Ala)
c.256T>G (p.Ser86Ala)
2g.111997343T=CA1279566536MERTKc.1471T= (p.Ser491=)
c.943T= (p.Ser315=)
c.*944T= (n.*944T=)
c.440T= (p.Leu147=)
c.1282T= (p.Ser428=)
c.256T= (p.Ser86=)
2g.111997344C>ACA348231037MERTKc.1472C>A (p.Ser491Tyr)
c.944C>A (p.Ser315Tyr)
c.*945C>A (n.*945C>A)
c.441C>A (p.Leu147=)
c.1283C>A (p.Ser428Tyr)
c.257C>A (p.Ser86Tyr)
2g.111997344C>GCA348231039MERTKc.1472C>G (p.Ser491Cys)
c.944C>G (p.Ser315Cys)
c.*945C>G (n.*945C>G)
c.441C>G (p.Leu147=)
c.1283C>G (p.Ser428Cys)
c.257C>G (p.Ser86Cys)
2g.111997344C>TCA348231042MERTKc.1472C>T (p.Ser491Phe)
c.944C>T (p.Ser315Phe)
c.*945C>T (n.*945C>T)
c.441C>T (p.Leu147=)
c.1283C>T (p.Ser428Phe)
c.257C>T (p.Ser86Phe)
2g.111997345T>ACA348231044MERTKc.1473T>A (p.Ser491=)
c.945T>A (p.Ser315=)
c.*946T>A (n.*946T>A)
c.442T>A (p.Phe148Ile)
c.1284T>A (p.Ser428=)
c.258T>A (p.Ser86=)
 ClinVar dbSNP gnomAD v4
2g.111997345T>CCA348231046MERTKc.1473T>C (p.Ser491=)
c.945T>C (p.Ser315=)
c.*946T>C (n.*946T>C)
c.442T>C (p.Phe148Leu)
c.1284T>C (p.Ser428=)
c.258T>C (p.Ser86=)
2g.111997345T>GCA348231049MERTKc.1473T>G (p.Ser491=)
c.945T>G (p.Ser315=)
c.*946T>G (n.*946T>G)
c.442T>G (p.Phe148Val)
c.1284T>G (p.Ser428=)
c.258T>G (p.Ser86=)
2g.111997346T>ACA348231050MERTKc.1474T>A (p.Ser492Thr)
c.946T>A (p.Ser316Thr)
c.*947T>A (n.*947T>A)
c.443T>A (p.Phe148Tyr)
c.1285T>A (p.Ser429Thr)
c.259T>A (p.Ser87Thr)
2g.111997346T>CCA348231052MERTKc.1474T>C (p.Ser492Pro)
c.946T>C (p.Ser316Pro)
c.*947T>C (n.*947T>C)
c.443T>C (p.Phe148Ser)
c.1285T>C (p.Ser429Pro)
c.259T>C (p.Ser87Pro)
2g.111997346T>GCA348231054MERTKc.1474T>G (p.Ser492Ala)
c.946T>G (p.Ser316Ala)
c.*947T>G (n.*947T>G)
c.443T>G (p.Phe148Cys)
c.1285T>G (p.Ser429Ala)
c.259T>G (p.Ser87Ala)
2g.111997347C>ACA348231059MERTKc.1475C>A (p.Ser492Ter)
c.947C>A (p.Ser316Ter)
c.*948C>A (n.*948C>A)
c.444C>A (p.Phe148Leu)
c.1286C>A (p.Ser429Ter)
c.260C>A (p.Ser87Ter)
2g.111997347C>GCA348231062MERTKc.1475C>G (p.Ser492Ter)
c.947C>G (p.Ser316Ter)
c.*948C>G (n.*948C>G)
c.444C>G (p.Phe148Leu)
c.1286C>G (p.Ser429Ter)
c.260C>G (p.Ser87Ter)
2g.111997347C>TCA348231057MERTKc.1475C>T (p.Ser492Leu)
c.947C>T (p.Ser316Leu)
c.*948C>T (n.*948C>T)
c.444C>T (p.Phe148=)
c.1286C>T (p.Ser429Leu)
c.260C>T (p.Ser87Leu)
2g.111997348A>CCA348231065MERTKc.1476A>C (p.Ser492=)
c.948A>C (p.Ser316=)
c.*949A>C (n.*949A>C)
c.445A>C (p.Asn149His)
c.1287A>C (p.Ser429=)
c.261A>C (p.Ser87=)
2g.111997348A>GCA348231067MERTKc.1476A>G (p.Ser492=)
c.948A>G (p.Ser316=)
c.*949A>G (n.*949A>G)
c.445A>G (p.Asn149Asp)
c.1287A>G (p.Ser429=)
c.261A>G (p.Ser87=)
2g.111997348A>TCA348231069MERTKc.1476A>T (p.Ser492=)
c.948A>T (p.Ser316=)
c.*949A>T (n.*949A>T)
c.445A>T (p.Asn149Tyr)
c.1287A>T (p.Ser429=)
c.261A>T (p.Ser87=)
2g.111997349dupCA2660689213MERTKc.1477dup (p.Thr493AsnfsTer?)
c.949dup (p.Thr317AsnfsTer?)
c.*950dup (n.*950dup)
c.446dup (p.Asn149LysfsTer?)
c.1288dup (p.Thr430AsnfsTer?)
c.262dup (p.Thr88AsnfsTer?)
 gnomAD v4
2g.111997349A=CA1279566537MERTKc.1477A= (p.Thr493=)
c.949A= (p.Thr317=)
c.*950A= (n.*950A=)
c.446A= (p.Asn149=)
c.1288A= (p.Thr430=)
c.262A= (p.Thr88=)
2g.111997349A>CCA348231072MERTKc.1477A>C (p.Thr493Pro)
c.949A>C (p.Thr317Pro)
c.*950A>C (n.*950A>C)
c.446A>C (p.Asn149Thr)
c.1288A>C (p.Thr430Pro)
c.262A>C (p.Thr88Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.111997349A>GCA1831439MERTKc.1477A>G (p.Thr493Ala)
c.949A>G (p.Thr317Ala)
c.*950A>G (n.*950A>G)
c.446A>G (p.Asn149Ser)
c.1288A>G (p.Thr430Ala)
c.262A>G (p.Thr88Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.111997349A>TCA348231075MERTKc.1477A>T (p.Thr493Ser)
c.949A>T (p.Thr317Ser)
c.*950A>T (n.*950A>T)
c.446A>T (p.Asn149Ile)
c.1288A>T (p.Thr430Ser)
c.262A>T (p.Thr88Ser)
2g.111997350C>ACA348231081MERTKc.1478C>A (p.Thr493Asn)
c.950C>A (p.Thr317Asn)
c.*951C>A (n.*951C>A)
c.447C>A (p.Asn149Lys)
c.1289C>A (p.Thr430Asn)
c.263C>A (p.Thr88Asn)
2g.111997350C>GCA348231080MERTKc.1478C>G (p.Thr493Ser)
c.950C>G (p.Thr317Ser)
c.*951C>G (n.*951C>G)
c.447C>G (p.Asn149Lys)
c.1289C>G (p.Thr430Ser)
c.263C>G (p.Thr88Ser)
2g.111997350C>TCA348231077MERTKc.1478C>T (p.Thr493Ile)
c.950C>T (p.Thr317Ile)
c.*951C>T (n.*951C>T)
c.447C>T (p.Asn149=)
c.1289C>T (p.Thr430Ile)
c.263C>T (p.Thr88Ile)
2g.111997351T>ACA348231083MERTKc.1479T>A (p.Thr493=)
c.951T>A (p.Thr317=)
c.*952T>A (n.*952T>A)
c.448T>A (p.Ser150Thr)
c.1290T>A (p.Thr430=)
c.264T>A (p.Thr88=)
2g.111997351T>CCA348231086MERTKc.1479T>C (p.Thr493=)
c.951T>C (p.Thr317=)
c.*952T>C (n.*952T>C)
c.448T>C (p.Ser150Pro)
c.1290T>C (p.Thr430=)
c.264T>C (p.Thr88=)
2g.111997351T>GCA53574347MERTKc.1479T>G (p.Thr493=)
c.951T>G (p.Thr317=)
c.*952T>G (n.*952T>G)
c.448T>G (p.Ser150Ala)
c.1290T>G (p.Thr430=)
c.264T>G (p.Thr88=)
 dbSNP
2g.111997351T=CA1279566538MERTKc.1479T= (p.Thr493=)
c.951T= (p.Thr317=)
c.*952T= (n.*952T=)
c.448T= (p.Ser150=)
c.1290T= (p.Thr430=)
c.264T= (p.Thr88=)
2g.111997352C>ACA348231089MERTKc.1480C>A (p.Pro494Thr)
c.952C>A (p.Pro318Thr)
c.*953C>A (n.*953C>A)
c.449C>A (p.Ser150Tyr)
c.1291C>A (p.Pro431Thr)
c.265C>A (p.Pro89Thr)
2g.111997352C>GCA348231092MERTKc.1480C>G (p.Pro494Ala)
c.952C>G (p.Pro318Ala)
c.*953C>G (n.*953C>G)
c.449C>G (p.Ser150Cys)
c.1291C>G (p.Pro431Ala)
c.265C>G (p.Pro89Ala)
2g.111997352C>TCA348231094MERTKc.1480C>T (p.Pro494Ser)
c.952C>T (p.Pro318Ser)
c.*953C>T (n.*953C>T)
c.449C>T (p.Ser150Phe)
c.1291C>T (p.Pro431Ser)
c.265C>T (p.Pro89Ser)
2g.111997353C>ACA348231096MERTKc.1481C>A (p.Pro494Gln)
c.953C>A (p.Pro318Gln)
c.*954C>A (n.*954C>A)
c.450C>A (p.Ser150=)
c.1292C>A (p.Pro431Gln)
c.266C>A (p.Pro89Gln)
 COSMIC COSMIC
2g.111997353C=CA1279566539MERTKc.1481C= (p.Pro494=)
c.953C= (p.Pro318=)
c.*954C= (n.*954C=)
c.450C= (p.Ser150=)
c.1292C= (p.Pro431=)
c.266C= (p.Pro89=)
2g.111997353C>GCA348231100MERTKc.1481C>G (p.Pro494Arg)
c.953C>G (p.Pro318Arg)
c.*954C>G (n.*954C>G)
c.450C>G (p.Ser150=)
c.1292C>G (p.Pro431Arg)
c.266C>G (p.Pro89Arg)
2g.111997353C>TCA1831440MERTKc.1481C>T (p.Pro494Leu)
c.953C>T (p.Pro318Leu)
c.*954C>T (n.*954C>T)
c.450C>T (p.Ser150=)
c.1292C>T (p.Pro431Leu)
c.266C>T (p.Pro89Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.111997354G>ACA1831441MERTKc.1482G>A (p.Pro494=)
c.954G>A (p.Pro318=)
c.*955G>A (n.*955G>A)
c.451G>A (p.Gly151Ser)
c.1293G>A (p.Pro431=)
c.267G>A (p.Pro89=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.111997354G>CCA348231107MERTKc.1482G>C (p.Pro494=)
c.954G>C (p.Pro318=)
c.*955G>C (n.*955G>C)
c.451G>C (p.Gly151Arg)
c.1293G>C (p.Pro431=)
c.267G>C (p.Pro89=)
2g.111997354G=CA1279566540MERTKc.1482G= (p.Pro494=)
c.954G= (p.Pro318=)
c.*955G= (n.*955G=)
c.451G= (p.Gly151=)
c.1293G= (p.Pro431=)
c.267G= (p.Pro89=)
2g.111997354G>TCA348231110MERTKc.1482G>T (p.Pro494=)
c.954G>T (p.Pro318=)
c.*955G>T (n.*955G>T)
c.451G>T (p.Gly151Cys)
c.1293G>T (p.Pro431=)
c.267G>T (p.Pro89=)
2g.111997355G>ACA348231112MERTKc.1483G>A (p.Ala495Thr)
c.955G>A (p.Ala319Thr)
c.*956G>A (n.*956G>A)
c.452G>A (p.Gly151Asp)
c.1294G>A (p.Ala432Thr)
c.268G>A (p.Ala90Thr)
2g.111997355G>CCA348231114MERTKc.1483G>C (p.Ala495Pro)
c.955G>C (p.Ala319Pro)
c.*956G>C (n.*956G>C)
c.452G>C (p.Gly151Ala)
c.1294G>C (p.Ala432Pro)
c.268G>C (p.Ala90Pro)
2g.111997355G>TCA348231117MERTKc.1483G>T (p.Ala495Ser)
c.955G>T (p.Ala319Ser)
c.*956G>T (n.*956G>T)
c.452G>T (p.Gly151Val)
c.1294G>T (p.Ala432Ser)
c.268G>T (p.Ala90Ser)
2g.111997356C>ACA348231120MERTKc.1484C>A (p.Ala495Glu)
c.956C>A (p.Ala319Glu)
c.*957C>A (n.*957C>A)
c.453C>A (p.Gly151=)
c.1295C>A (p.Ala432Glu)
c.269C>A (p.Ala90Glu)
2g.111997356C=CA1279566541MERTKc.1484C= (p.Ala495=)
c.956C= (p.Ala319=)
c.*957C= (n.*957C=)
c.453C= (p.Gly151=)
c.1295C= (p.Ala432=)
c.269C= (p.Ala90=)
2g.111997356C>GCA348231122MERTKc.1484C>G (p.Ala495Gly)
c.956C>G (p.Ala319Gly)
c.*957C>G (n.*957C>G)
c.453C>G (p.Gly151=)
c.1295C>G (p.Ala432Gly)
c.269C>G (p.Ala90Gly)
2g.111997356C>TCA1831442MERTKc.1484C>T (p.Ala495Val)
c.956C>T (p.Ala319Val)
c.*957C>T (n.*957C>T)
c.453C>T (p.Gly151=)
c.1295C>T (p.Ala432Val)
c.269C>T (p.Ala90Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.111997357G>ACA1831443MERTKc.1485G>A (p.Ala495=)
c.957G>A (p.Ala319=)
c.*958G>A (n.*958G>A)
c.454G>A (p.Ala152Thr)
c.1296G>A (p.Ala432=)
c.270G>A (p.Ala90=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.111997357G>CCA348231125MERTKc.1485G>C (p.Ala495=)
c.957G>C (p.Ala319=)
c.*958G>C (n.*958G>C)
c.454G>C (p.Ala152Pro)
c.1296G>C (p.Ala432=)
c.270G>C (p.Ala90=)
2g.111997357G=CA1279566542MERTKc.1485G= (p.Ala495=)
c.957G= (p.Ala319=)
c.*958G= (n.*958G=)
c.454G= (p.Ala152=)
c.1296G= (p.Ala432=)
c.270G= (p.Ala90=)
2g.111997357G>TCA348231137MERTKc.1485G>T (p.Ala495=)
c.957G>T (p.Ala319=)
c.*958G>T (n.*958G>T)
c.454G>T (p.Ala152Ser)
c.1296G>T (p.Ala432=)
c.270G>T (p.Ala90=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.111997358C>ACA348231138MERTKc.1486C>A (p.Pro496Thr)
c.958C>A (p.Pro320Thr)
c.*959C>A (n.*959C>A)
c.455C>A (p.Ala152Asp)
c.1297C>A (p.Pro433Thr)
c.271C>A (p.Pro91Thr)
2g.111997358C>GCA348231140MERTKc.1486C>G (p.Pro496Ala)
c.958C>G (p.Pro320Ala)
c.*959C>G (n.*959C>G)
c.455C>G (p.Ala152Gly)
c.1297C>G (p.Pro433Ala)
c.271C>G (p.Pro91Ala)
2g.111997358C>TCA348231139MERTKc.1486C>T (p.Pro496Ser)
c.958C>T (p.Pro320Ser)
c.*959C>T (n.*959C>T)
c.455C>T (p.Ala152Val)
c.1297C>T (p.Pro433Ser)
c.271C>T (p.Pro91Ser)
2g.111997359C>ACA348231141MERTKc.1487C>A (p.Pro496His)
c.959C>A (p.Pro320His)
c.*960C>A (n.*960C>A)
c.456C>A (p.Ala152=)
c.1298C>A (p.Pro433His)
c.272C>A (p.Pro91His)
2g.111997359C=CA1279566543MERTKc.1487C= (p.Pro496=)
c.959C= (p.Pro320=)
c.*960C= (n.*960C=)
c.456C= (p.Ala152=)
c.1298C= (p.Pro433=)
c.272C= (p.Pro91=)
2g.111997359C>GCA348231142MERTKc.1487C>G (p.Pro496Arg)
c.959C>G (p.Pro320Arg)
c.*960C>G (n.*960C>G)
c.456C>G (p.Ala152=)
c.1298C>G (p.Pro433Arg)
c.272C>G (p.Pro91Arg)
2g.111997359C>TCA1831444MERTKc.1487C>T (p.Pro496Leu)
c.959C>T (p.Pro320Leu)
c.*960C>T (n.*960C>T)
c.456C>T (p.Ala152=)
c.1298C>T (p.Pro433Leu)
c.272C>T (p.Pro91Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.111997360T>ACA348231143MERTKc.1488T>A (p.Pro496=)
c.960T>A (p.Pro320=)
c.*961T>A (n.*961T>A)
c.457T>A (p.Trp153Arg)
c.1299T>A (p.Pro433=)
c.273T>A (p.Pro91=)
2g.111997360T>CCA348231145MERTKc.1488T>C (p.Pro496=)
c.960T>C (p.Pro320=)
c.*961T>C (n.*961T>C)
c.457T>C (p.Trp153Arg)
c.1299T>C (p.Pro433=)
c.273T>C (p.Pro91=)
2g.111997360T>GCA348231146MERTKc.1488T>G (p.Pro496=)
c.960T>G (p.Pro320=)
c.*961T>G (n.*961T>G)
c.457T>G (p.Trp153Gly)
c.1299T>G (p.Pro433=)
c.273T>G (p.Pro91=)
2g.111997361G>ACA1831445MERTKc.1489G>A (p.Gly497Ser)
c.961G>A (p.Gly321Ser)
c.*962G>A (n.*962G>A)
c.458G>A (p.Trp153Ter)
c.1300G>A (p.Gly434Ser)
c.274G>A (p.Gly92Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.111997361G>CCA348231158MERTKc.1489G>C (p.Gly497Arg)
c.961G>C (p.Gly321Arg)
c.*962G>C (n.*962G>C)
c.458G>C (p.Trp153Ser)
c.1300G>C (p.Gly434Arg)
c.274G>C (p.Gly92Arg)
2g.111997361G=CA1279566544MERTKc.1489G= (p.Gly497=)
c.961G= (p.Gly321=)
c.*962G= (n.*962G=)
c.458G= (p.Trp153=)
c.1300G= (p.Gly434=)
c.274G= (p.Gly92=)
2g.111997361G>TCA348231160MERTKc.1489G>T (p.Gly497Cys)
c.961G>T (p.Gly321Cys)
c.*962G>T (n.*962G>T)
c.458G>T (p.Trp153Leu)
c.1300G>T (p.Gly434Cys)
c.274G>T (p.Gly92Cys)
2g.111997362G>ACA348231164MERTKc.1490G>A (p.Gly497Asp)
c.962G>A (p.Gly321Asp)
c.*963G>A (n.*963G>A)
c.459G>A (p.Trp153Ter)
c.1301G>A (p.Gly434Asp)
c.275G>A (p.Gly92Asp)
 ClinVar gnomAD v4
2g.111997362G>CCA348231165MERTKc.1490G>C (p.Gly497Ala)
c.962G>C (p.Gly321Ala)
c.*963G>C (n.*963G>C)
c.459G>C (p.Trp153Cys)
c.1301G>C (p.Gly434Ala)
c.275G>C (p.Gly92Ala)
2g.111997362G>TCA348231168MERTKc.1490G>T (p.Gly497Val)
c.962G>T (p.Gly321Val)
c.*963G>T (n.*963G>T)
c.459G>T (p.Trp153Cys)
c.1301G>T (p.Gly434Val)
c.275G>T (p.Gly92Val)
2g.111997363C>ACA348231174MERTKc.1491C>A (p.Gly497=)
c.963C>A (p.Gly321=)
c.*964C>A (n.*964C>A)
c.460C>A (p.Gln154Lys)
c.1302C>A (p.Gly434=)
c.276C>A (p.Gly92=)
2g.111997363C>GCA348231169MERTKc.1491C>G (p.Gly497=)
c.963C>G (p.Gly321=)
c.*964C>G (n.*964C>G)
c.460C>G (p.Gln154Glu)
c.1302C>G (p.Gly434=)
c.276C>G (p.Gly92=)
2g.111997363C>TCA348231171MERTKc.1491C>T (p.Gly497=)
c.963C>T (p.Gly321=)
c.*964C>T (n.*964C>T)
c.460C>T (p.Gln154Ter)
c.1302C>T (p.Gly434=)
c.276C>T (p.Gly92=)
 dbSNP gnomAD v4
2g.111997364A>CCA348231178MERTKc.1492A>C (p.Asn498His)
c.964A>C (p.Asn322His)
c.*965A>C (n.*965A>C)
c.461A>C (p.Gln154Pro)
c.1303A>C (p.Asn435His)
c.277A>C (p.Asn93His)
2g.111997364A>GCA348231181MERTKc.1492A>G (p.Asn498Asp)
c.964A>G (p.Asn322Asp)
c.*965A>G (n.*965A>G)
c.461A>G (p.Gln154Arg)
c.1303A>G (p.Asn435Asp)
c.277A>G (p.Asn93Asp)
2g.111997364A>TCA348231185MERTKc.1492A>T (p.Asn498Tyr)
c.964A>T (p.Asn322Tyr)
c.*965A>T (n.*965A>T)
c.461A>T (p.Gln154Leu)
c.1303A>T (p.Asn435Tyr)
c.277A>T (p.Asn93Tyr)
2g.111997365A=CA1279566545MERTKc.1493A= (p.Asn498=)
c.965A= (p.Asn322=)
c.*966A= (n.*966A=)
c.462A= (p.Gln154=)
c.1304A= (p.Asn435=)
c.278A= (p.Asn93=)
2g.111997365A>CCA348231187MERTKc.1493A>C (p.Asn498Thr)
c.965A>C (p.Asn322Thr)
c.*966A>C (n.*966A>C)
c.462A>C (p.Gln154His)
c.1304A>C (p.Asn435Thr)
c.278A>C (p.Asn93Thr)
2g.111997365A>GCA1831446MERTKc.1493A>G (p.Asn498Ser)
c.965A>G (p.Asn322Ser)
c.*966A>G (n.*966A>G)
c.462A>G (p.Gln154=)
c.1304A>G (p.Asn435Ser)
c.278A>G (p.Asn93Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.111997365A>TCA348231190MERTKc.1493A>T (p.Asn498Ile)
c.965A>T (p.Asn322Ile)
c.*966A>T (n.*966A>T)
c.462A>T (p.Gln154His)
c.1304A>T (p.Asn435Ile)
c.278A>T (p.Asn93Ile)
2g.111997365_111997366delinsACCA1279566546MERTKc.1493_1494delinsAC (p.Asn498=)
c.965_966delinsAC (p.Asn322=)
c.*966_*967delinsAC (n.*966_*967delinsAC)
c.462_463delinsAC (p.Gln154=)
c.1304_1305delinsAC (p.Asn435=)
c.278_279delinsAC (p.Asn93=)
2g.111997365_111997366delinsGTCA53574375MERTKc.1493_1494delinsGT (p.Asn498Ser)
c.965_966delinsGT (p.Asn322Ser)
c.*966_*967delinsGT (n.*966_*967delinsGT)
c.462_463delinsGT (p.Arg155Cys)
c.1304_1305delinsGT (p.Asn435Ser)
c.278_279delinsGT (p.Asn93Ser)
 ClinVar dbSNP
2g.111997366C>ACA348231193MERTKc.1494C>A (p.Asn498Lys)
c.966C>A (p.Asn322Lys)
c.*967C>A (n.*967C>A)
c.463C>A (p.Arg155Ser)
c.1305C>A (p.Asn435Lys)
c.279C>A (p.Asn93Lys)
2g.111997366C=CA1279566547MERTKc.1494C= (p.Asn498=)
c.966C= (p.Asn322=)
c.*967C= (n.*967C=)
c.463C= (p.Arg155=)
c.1305C= (p.Asn435=)
c.279C= (p.Asn93=)
2g.111997366C>GCA348231207MERTKc.1494C>G (p.Asn498Lys)
c.966C>G (p.Asn322Lys)
c.*967C>G (n.*967C>G)
c.463C>G (p.Arg155Gly)
c.1305C>G (p.Asn435Lys)
c.279C>G (p.Asn93Lys)
 COSMIC
2g.111997366C>TCA1831447MERTKc.1494C>T (p.Asn498=)
c.966C>T (p.Asn322=)
c.*967C>T (n.*967C>T)
c.463C>T (p.Arg155Cys)
c.1305C>T (p.Asn435=)
c.279C>T (p.Asn93=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.111997367G>ACA1831448MERTKc.1495G>A (p.Ala499Thr)
c.967G>A (p.Ala323Thr)
c.*968G>A (n.*968G>A)
c.464G>A (p.Arg155His)
c.1306G>A (p.Ala436Thr)
c.280G>A (p.Ala94Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.111997367G>CCA348231215MERTKc.1495G>C (p.Ala499Pro)
c.967G>C (p.Ala323Pro)
c.*968G>C (n.*968G>C)
c.464G>C (p.Arg155Pro)
c.1306G>C (p.Ala436Pro)
c.280G>C (p.Ala94Pro)
 gnomAD v4
2g.111997367G=CA1279566548MERTKc.1495G= (p.Ala499=)
c.967G= (p.Ala323=)
c.*968G= (n.*968G=)
c.464G= (p.Arg155=)
c.1306G= (p.Ala436=)
c.280G= (p.Ala94=)
2g.111997367G>TCA348231217MERTKc.1495G>T (p.Ala499Ser)
c.967G>T (p.Ala323Ser)
c.*968G>T (n.*968G>T)
c.464G>T (p.Arg155Leu)
c.1306G>T (p.Ala436Ser)
c.280G>T (p.Ala94Ser)
2g.111997368C>ACA348231221MERTKc.1496C>A (p.Ala499Glu)
c.968C>A (p.Ala323Glu)
c.*969C>A (n.*969C>A)
c.465C>A (p.Arg155=)
c.1307C>A (p.Ala436Glu)
c.281C>A (p.Ala94Glu)
2g.111997368C=CA1279566549MERTKc.1496C= (p.Ala499=)
c.968C= (p.Ala323=)
c.*969C= (n.*969C=)
c.465C= (p.Arg155=)
c.1307C= (p.Ala436=)
c.281C= (p.Ala94=)
2g.111997368C>GCA348231222MERTKc.1496C>G (p.Ala499Gly)
c.968C>G (p.Ala323Gly)
c.*969C>G (n.*969C>G)
c.465C>G (p.Arg155=)
c.1307C>G (p.Ala436Gly)
c.281C>G (p.Ala94Gly)
2g.111997368C>TCA348231220MERTKc.1496C>T (p.Ala499Val)
c.968C>T (p.Ala323Val)
c.*969C>T (n.*969C>T)
c.465C>T (p.Arg155=)
c.1307C>T (p.Ala436Val)
c.281C>T (p.Ala94Val)
 dbSNP gnomAD v4
2g.111997369A>CCA428274268MERTKc.1497A>C (p.Ala499=)
c.969A>C (p.Ala323=)
c.*970A>C (n.*970A>C)
c.466A>C (p.Arg156=)
c.1308A>C (p.Ala436=)
c.282A>C (p.Ala94=)
2g.111997369A>GCA348231226MERTKc.1497A>G (p.Ala499=)
c.969A>G (p.Ala323=)
c.*970A>G (n.*970A>G)
c.466A>G (p.Arg156Gly)
c.1308A>G (p.Ala436=)
c.282A>G (p.Ala94=)
2g.111997369A>TCA348231224MERTKc.1497A>T (p.Ala499=)
c.969A>T (p.Ala323=)
c.*970A>T (n.*970A>T)
c.466A>T (p.Arg156Ter)
c.1308A>T (p.Ala436=)
c.282A>T (p.Ala94=)
2g.111997370G>ACA348231229MERTKc.1498G>A (p.Asp500Asn)
c.970G>A (p.Asp324Asn)
c.*971G>A (n.*971G>A)
n.1G>A
c.467G>A (p.Arg156Lys)
c.1309G>A (p.Asp437Asn)
c.283G>A (p.Asp95Asn)
2g.111997370G>CCA348231228MERTKc.1498G>C (p.Asp500His)
c.970G>C (p.Asp324His)
c.*971G>C (n.*971G>C)
n.1G>C
c.467G>C (p.Arg156Thr)
c.1309G>C (p.Asp437His)
c.283G>C (p.Asp95His)
2g.111997370G>TCA348231230MERTKc.1498G>T (p.Asp500Tyr)
c.970G>T (p.Asp324Tyr)
c.*971G>T (n.*971G>T)
n.1G>T
c.467G>T (p.Arg156Ile)
c.1309G>T (p.Asp437Tyr)
c.283G>T (p.Asp95Tyr)
2g.111997371A>CCA348231232MERTKc.1499A>C (p.Asp500Ala)
c.971A>C (p.Asp324Ala)
c.*972A>C (n.*972A>C)
n.2A>C
c.468A>C (p.Arg156Ser)
c.1310A>C (p.Asp437Ala)
c.284A>C (p.Asp95Ala)
2g.111997371A>GCA348231234MERTKc.1499A>G (p.Asp500Gly)
c.971A>G (p.Asp324Gly)
c.*972A>G (n.*972A>G)
n.2A>G
c.468A>G (p.Arg156=)
c.1310A>G (p.Asp437Gly)
c.284A>G (p.Asp95Gly)
2g.111997371A>TCA348231236MERTKc.1499A>T (p.Asp500Val)
c.971A>T (p.Asp324Val)
c.*972A>T (n.*972A>T)
n.2A>T
c.468A>T (p.Arg156Ser)
c.1310A>T (p.Asp437Val)
c.284A>T (p.Asp95Val)
2g.111997372T>ACA348231238MERTKc.1500T>A (p.Asp500Glu)
c.972T>A (p.Asp324Glu)
c.*973T>A (n.*973T>A)
n.3T>A
c.469T>A (p.Ser157Thr)
c.1311T>A (p.Asp437Glu)
c.285T>A (p.Asp95Glu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.111997372T>CCA348231239MERTKc.1500T>C (p.Asp500=)
c.972T>C (p.Asp324=)
c.*973T>C (n.*973T>C)
n.3T>C
c.469T>C (p.Ser157Pro)
c.1311T>C (p.Asp437=)
c.285T>C (p.Asp95=)
2g.111997372T>GCA348231241MERTKc.1500T>G (p.Asp500Glu)
c.972T>G (p.Asp324Glu)
c.*973T>G (n.*973T>G)
n.3T>G
c.469T>G (p.Ser157Ala)
c.1311T>G (p.Asp437Glu)
c.285T>G (p.Asp95Glu)
2g.111997372T=CA1279566550MERTKc.1500T= (p.Asp500=)
c.972T= (p.Asp324=)
c.*973T= (n.*973T=)
n.3T=
c.469T= (p.Ser157=)
c.1311T= (p.Asp437=)
c.285T= (p.Asp95=)
2g.111997373C>ACA348231242MERTKc.1501C>A (p.Pro501Thr)
c.973C>A (p.Pro325Thr)
c.*974C>A (n.*974C>A)
n.4C>A
c.470C>A (p.Ser157Tyr)
c.1312C>A (p.Pro438Thr)
c.286C>A (p.Pro96Thr)
2g.111997373C>GCA348231244MERTKc.1501C>G (p.Pro501Ala)
c.973C>G (p.Pro325Ala)
c.*974C>G (n.*974C>G)
n.4C>G
c.470C>G (p.Ser157Cys)
c.1312C>G (p.Pro438Ala)
c.286C>G (p.Pro96Ala)
 gnomAD v4
2g.111997373C>TCA348231246MERTKc.1501C>T (p.Pro501Ser)
c.973C>T (p.Pro325Ser)
c.*974C>T (n.*974C>T)
n.4C>T
c.470C>T (p.Ser157Phe)
c.1312C>T (p.Pro438Ser)
c.286C>T (p.Pro96Ser)
 COSMIC COSMIC
2g.111997374C>ACA348231247MERTKc.1502C>A (p.Pro501His)
c.974C>A (p.Pro325His)
c.*975C>A (n.*975C>A)
n.5C>A
c.471C>A (p.Ser157=)
c.1313C>A (p.Pro438His)
c.287C>A (p.Pro96His)
2g.111997374C>GCA348231248MERTKc.1502C>G (p.Pro501Arg)
c.974C>G (p.Pro325Arg)
c.*975C>G (n.*975C>G)
n.5C>G
c.471C>G (p.Ser157=)
c.1313C>G (p.Pro438Arg)
c.287C>G (p.Pro96Arg)
2g.111997374C>TCA348231250MERTKc.1502C>T (p.Pro501Leu)
c.974C>T (p.Pro325Leu)
c.*975C>T (n.*975C>T)
n.5C>T
c.471C>T (p.Ser157=)
c.1313C>T (p.Pro438Leu)
c.287C>T (p.Pro96Leu)
 gnomAD v4
2g.111997375T>ACA348231255MERTKc.1503T>A (p.Pro501=)
c.975T>A (p.Pro325=)
c.*976T>A (n.*976T>A)
n.6T>A
c.472T>A (p.Cys158Ser)
c.1314T>A (p.Pro438=)
c.288T>A (p.Pro96=)
2g.111997375T>CCA348231254MERTKc.1503T>C (p.Pro501=)
c.975T>C (p.Pro325=)
c.*976T>C (n.*976T>C)
n.6T>C
c.472T>C (p.Cys158Arg)
c.1314T>C (p.Pro438=)
c.288T>C (p.Pro96=)
2g.111997375T>GCA348231252MERTKc.1503T>G (p.Pro501=)
c.975T>G (p.Pro325=)
c.*976T>G (n.*976T>G)
n.6T>G
c.472T>G (p.Cys158Gly)
c.1314T>G (p.Pro438=)
c.288T>G (p.Pro96=)
2g.111997376G>ACA53574409MERTKc.1504G>A (p.Val502Met)
c.976G>A (p.Val326Met)
c.*977G>A (n.*977G>A)
n.7G>A
c.473G>A (p.Cys158Tyr)
c.1315G>A (p.Val439Met)
c.289G>A (p.Val97Met)
 dbSNP gnomAD v3 gnomAD v4
2g.111997376G>CCA348231257MERTKc.1504G>C (p.Val502Leu)
c.976G>C (p.Val326Leu)
c.*977G>C (n.*977G>C)
n.7G>C
c.473G>C (p.Cys158Ser)
c.1315G>C (p.Val439Leu)
c.289G>C (p.Val97Leu)
2g.111997376G=CA1279566551MERTKc.1504G= (p.Val502=)
c.976G= (p.Val326=)
c.*977G= (n.*977G=)
n.7G=
c.473G= (p.Cys158=)
c.1315G= (p.Val439=)
c.289G= (p.Val97=)
2g.111997376G>TCA348231259MERTKc.1504G>T (p.Val502Leu)
c.976G>T (p.Val326Leu)
c.*977G>T (n.*977G>T)
n.7G>T
c.473G>T (p.Cys158Phe)
c.1315G>T (p.Val439Leu)
c.289G>T (p.Val97Leu)
2g.111997377T>ACA348231261MERTKc.1505T>A (p.Val502Glu)
c.977T>A (p.Val326Glu)
c.*978T>A (n.*978T>A)
n.8T>A
c.474T>A (p.Cys158Ter)
c.1316T>A (p.Val439Glu)
c.290T>A (p.Val97Glu)
2g.111997377T>CCA348231262MERTKc.1505T>C (p.Val502Ala)
c.977T>C (p.Val326Ala)
c.*978T>C (n.*978T>C)
n.8T>C
c.474T>C (p.Cys158=)
c.1316T>C (p.Val439Ala)
c.290T>C (p.Val97Ala)
 gnomAD v4
2g.111997377T>GCA348231264MERTKc.1505T>G (p.Val502Gly)
c.977T>G (p.Val326Gly)
c.*978T>G (n.*978T>G)
n.8T>G
c.474T>G (p.Cys158Trp)
c.1316T>G (p.Val439Gly)
c.290T>G (p.Val97Gly)
2g.111997378G>ACA348231266MERTKc.1506G>A (p.Val502=)
c.978G>A (p.Val326=)
c.*979G>A (n.*979G>A)
n.9G>A
c.475G>A (p.Ala159Thr)
c.1317G>A (p.Val439=)
c.291G>A (p.Val97=)
2g.111997378G>CCA348231268MERTKc.1506G>C (p.Val502=)
c.978G>C (p.Val326=)
c.*979G>C (n.*979G>C)
n.9G>C
c.475G>C (p.Ala159Pro)
c.1317G>C (p.Val439=)
c.291G>C (p.Val97=)
2g.111997378G>TCA348231269MERTKc.1506G>T (p.Val502=)
c.978G>T (p.Val326=)
c.*979G>T (n.*979G>T)
n.9G>T
c.475G>T (p.Ala159Ser)
c.1317G>T (p.Val439=)
c.291G>T (p.Val97=)
2g.111997379C>ACA348231270MERTKc.1507C>A (p.Leu503Ile)
c.979C>A (p.Leu327Ile)
c.*980C>A (n.*980C>A)
n.10C>A
c.476C>A (p.Ala159Asp)
c.1318C>A (p.Leu440Ile)
c.292C>A (p.Leu98Ile)
 ClinVar dbSNP
2g.111997379C=CA1279566552MERTKc.1507C= (p.Leu503=)
c.979C= (p.Leu327=)
c.*980C= (n.*980C=)
n.10C=
c.476C= (p.Ala159=)
c.1318C= (p.Leu440=)
c.292C= (p.Leu98=)
2g.111997379C>GCA348231272MERTKc.1507C>G (p.Leu503Val)
c.979C>G (p.Leu327Val)
c.*980C>G (n.*980C>G)
n.10C>G
c.476C>G (p.Ala159Gly)
c.1318C>G (p.Leu440Val)
c.292C>G (p.Leu98Val)
2g.111997379C>TCA348231274MERTKc.1507C>T (p.Leu503Phe)
c.979C>T (p.Leu327Phe)
c.*980C>T (n.*980C>T)
n.10C>T
c.476C>T (p.Ala159Val)
c.1318C>T (p.Leu440Phe)
c.292C>T (p.Leu98Phe)
2g.111997380T>ACA348231279MERTKc.1508T>A (p.Leu503His)
c.980T>A (p.Leu327His)
c.*981T>A (n.*981T>A)
n.11T>A
c.477T>A (p.Ala159=)
c.1319T>A (p.Leu440His)
c.293T>A (p.Leu98His)
2g.111997380T>CCA348231277MERTKc.1508T>C (p.Leu503Pro)
c.980T>C (p.Leu327Pro)
c.*981T>C (n.*981T>C)
n.11T>C
c.477T>C (p.Ala159=)
c.1319T>C (p.Leu440Pro)
c.293T>C (p.Leu98Pro)
2g.111997380T>GCA348231276MERTKc.1508T>G (p.Leu503Arg)
c.980T>G (p.Leu327Arg)
c.*981T>G (n.*981T>G)
n.11T>G
c.477T>G (p.Ala159=)
c.1319T>G (p.Leu440Arg)
c.293T>G (p.Leu98Arg)
2g.111997381C>ACA348231280MERTKc.1509C>A (p.Leu503=)
c.981C>A (p.Leu327=)
c.*982C>A (n.*982C>A)
n.12C>A
c.478C>A (p.His160Asn)
c.1320C>A (p.Leu440=)
c.294C>A (p.Leu98=)
2g.111997381C=CA1279566553MERTKc.1509C= (p.Leu503=)
c.981C= (p.Leu327=)
c.*982C= (n.*982C=)
n.12C=
c.478C= (p.His160=)
c.1320C= (p.Leu440=)
c.294C= (p.Leu98=)
2g.111997381C>GCA348231282MERTKc.1509C>G (p.Leu503=)
c.981C>G (p.Leu327=)
c.*982C>G (n.*982C>G)
n.12C>G
c.478C>G (p.His160Asp)
c.1320C>G (p.Leu440=)
c.294C>G (p.Leu98=)
2g.111997381C>TCA1831449MERTKc.1509C>T (p.Leu503=)
c.981C>T (p.Leu327=)
c.*982C>T (n.*982C>T)
n.12C>T
c.478C>T (p.His160Tyr)
c.1320C>T (p.Leu440=)
c.294C>T (p.Leu98=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.111997382A=CA1279566554MERTKc.1510A= (p.Ile504=)
c.982A= (p.Ile328=)
c.*983A= (n.*983A=)
n.13A=
c.479A= (p.His160=)
c.1321A= (p.Ile441=)
c.295A= (p.Ile99=)
2g.111997382A>CCA348231284MERTKc.1510A>C (p.Ile504Leu)
c.982A>C (p.Ile328Leu)
c.*983A>C (n.*983A>C)
n.13A>C
c.479A>C (p.His160Pro)
c.1321A>C (p.Ile441Leu)
c.295A>C (p.Ile99Leu)
2g.111997382A>GCA1831450MERTKc.1510A>G (p.Ile504Val)
c.982A>G (p.Ile328Val)
c.*983A>G (n.*983A>G)
n.13A>G
c.479A>G (p.His160Arg)
c.1321A>G (p.Ile441Val)
c.295A>G (p.Ile99Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.111997382A>TCA348231287MERTKc.1510A>T (p.Ile504Phe)
c.982A>T (p.Ile328Phe)
c.*983A>T (n.*983A>T)
n.13A>T
c.479A>T (p.His160Leu)
c.1321A>T (p.Ile441Phe)
c.295A>T (p.Ile99Phe)
2g.111997383T>ACA348231289MERTKc.1511T>A (p.Ile504Asn)
c.983T>A (p.Ile328Asn)
c.*984T>A (n.*984T>A)
n.14T>A
c.480T>A (p.His160Gln)
c.1322T>A (p.Ile441Asn)
c.296T>A (p.Ile99Asn)
2g.111997383T>CCA348231290MERTKc.1511T>C (p.Ile504Thr)
c.983T>C (p.Ile328Thr)
c.*984T>C (n.*984T>C)
n.14T>C
c.480T>C (p.His160=)
c.1322T>C (p.Ile441Thr)
c.296T>C (p.Ile99Thr)
2g.111997383T>GCA348231292MERTKc.1511T>G (p.Ile504Ser)
c.983T>G (p.Ile328Ser)
c.*984T>G (n.*984T>G)
n.14T>G
c.480T>G (p.His160Gln)
c.1322T>G (p.Ile441Ser)
c.296T>G (p.Ile99Ser)
2g.111997383T=CA1279566555MERTKc.1511T= (p.Ile504=)
c.983T= (p.Ile328=)
c.*984T= (n.*984T=)
n.14T=
c.480T= (p.His160=)
c.1322T= (p.Ile441=)
c.296T= (p.Ile99=)
2g.111997384C>ACA348231294MERTKc.1512C>A (p.Ile504=)
c.984C>A (p.Ile328=)
c.*985C>A (n.*985C>A)
n.15C>A
c.481C>A (p.His161Asn)
c.1323C>A (p.Ile441=)
c.297C>A (p.Ile99=)
 gnomAD v4
2g.111997384C>GCA348231296MERTKc.1512C>G (p.Ile504Met)
c.984C>G (p.Ile328Met)
c.*985C>G (n.*985C>G)
n.15C>G
c.481C>G (p.His161Asp)
c.1323C>G (p.Ile441Met)
c.297C>G (p.Ile99Met)
 gnomAD v4
2g.111997384C>TCA348231297MERTKc.1512C>T (p.Ile504=)
c.984C>T (p.Ile328=)
c.*985C>T (n.*985C>T)
n.15C>T
c.481C>T (p.His161Tyr)
c.1323C>T (p.Ile441=)
c.297C>T (p.Ile99=)
 gnomAD v4
2g.111997385_111997393dupCA1279566556MERTKc.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
2g.111997385A=CA1279566557MERTKc.1513A= (p.Ile505=)
c.985A= (p.Ile329=)
c.*986A= (n.*986A=)
n.16A=
c.482A= (p.His161=)
c.1324A= (p.Ile442=)
c.298A= (p.Ile100=)
2g.111997385A>CCA348231300MERTKc.1513A>C (p.Ile505Leu)
c.985A>C (p.Ile329Leu)
c.*986A>C (n.*986A>C)
n.16A>C
c.482A>C (p.His161Pro)
c.1324A>C (p.Ile442Leu)
c.298A>C (p.Ile100Leu)
2g.111997385A>GCA348231299MERTKc.1513A>G (p.Ile505Val)
c.985A>G (p.Ile329Val)
c.*986A>G (n.*986A>G)
n.16A>G
c.482A>G (p.His161Arg)
c.1324A>G (p.Ile442Val)
c.298A>G (p.Ile100Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.111997385A>TCA348231298MERTKc.1513A>T (p.Ile505Phe)
c.985A>T (p.Ile329Phe)
c.*986A>T (n.*986A>T)
n.16A>T
c.482A>T (p.His161Leu)
c.1324A>T (p.Ile442Phe)
c.298A>T (p.Ile100Phe)
2g.111997386T>ACA348231301MERTKc.1514T>A (p.Ile505Asn)
c.986T>A (p.Ile329Asn)
c.*987T>A (n.*987T>A)
n.17T>A
c.483T>A (p.His161Gln)
c.1325T>A (p.Ile442Asn)
c.299T>A (p.Ile100Asn)
2g.111997386T>CCA1831451MERTKc.1514T>C (p.Ile505Thr)
c.986T>C (p.Ile329Thr)
c.*987T>C (n.*987T>C)
n.17T>C
c.483T>C (p.His161=)
c.1325T>C (p.Ile442Thr)
c.299T>C (p.Ile100Thr)
 dbSNP ExAC gnomAD v2
2g.111997386T>GCA348231303MERTKc.1514T>G (p.Ile505Ser)
c.986T>G (p.Ile329Ser)
c.*987T>G (n.*987T>G)
n.17T>G
c.483T>G (p.His161Gln)
c.1325T>G (p.Ile442Ser)
c.299T>G (p.Ile100Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.111997386T=CA1279566558MERTKc.1514T= (p.Ile505=)
c.986T= (p.Ile329=)
c.*987T= (n.*987T=)
n.17T=
c.483T= (p.His161=)
c.1325T= (p.Ile442=)
c.299T= (p.Ile100=)
2g.111997387C>ACA348231305MERTKc.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
2g.111997387C=CA1279566559MERTKc.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=)
2g.111997387C>GCA348231307MERTKc.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)
2g.111997387C>TCA348231308MERTKc.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=)
2g.111997388T>ACA348231310MERTKc.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)
2g.111997388T>CCA348231311MERTKc.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)
2g.111997388T>GCA1831452MERTKc.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
2g.111997388T=CA1279566560MERTKc.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=)
2g.111997389T>ACA348231314MERTKc.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)
2g.111997389T>CCA348231315MERTKc.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)
 ClinVar
2g.111997389T>GCA348231316MERTKc.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)
2g.111997390T>ACA348231322MERTKc.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)
2g.111997390T>CCA348231320MERTKc.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=)
2g.111997390T>GCA348231319MERTKc.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)
2g.111997391G>ACA348231323MERTKc.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)
2g.111997391G>CCA348231327MERTKc.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)
2g.111997391G>TCA348231325MERTKc.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)
2g.111997392G>ACA53574428MERTKc.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
2g.111997392G>CCA348231329MERTKc.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)
2g.111997392G=CA1279566561MERTKc.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=)
2g.111997392G>TCA348231330MERTKc.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
2g.111997393C>ACA348231331MERTKc.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=)
2g.111997393C=CA1279566562MERTKc.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=)
2g.111997393C>GCA348231332MERTKc.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=)
2g.111997393C>TCA428274279MERTKc.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
2g.111997394T>ACA348231334MERTKc.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)
2g.111997394T>CCA348231336MERTKc.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)
2g.111997394T>GCA348231337MERTKc.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)
2g.111997395G>ACA348231339MERTKc.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)
2g.111997395G>CCA348231341MERTKc.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)
2g.111997395G>TCA348231342MERTKc.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)
2g.111997396C>ACA348231347MERTKc.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)
2g.111997396C>GCA348231344MERTKc.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)
2g.111997396C>TCA348231346MERTKc.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=)
2g.111997397T>ACA348231349MERTKc.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)
2g.111997397T>CCA348231350MERTKc.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)
2g.111997397T>GCA348231352MERTKc.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
2g.111997397T=CA1279566563MERTKc.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=)
2g.111997398T>ACA348231354MERTKc.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)
2g.111997398T>CCA348231355MERTKc.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)
2g.111997398T>GCA348231357MERTKc.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)
2g.111997398_111997399insACCA2751719115MERTKc.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)
2g.111997399T>ACA348231359MERTKc.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)
2g.111997399T>CCA428274283MERTKc.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=)
2g.111997399T>GCA348231361MERTKc.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)
2g.111997400T>ACA348231363MERTKc.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)
2g.111997400T>CCA348231364MERTKc.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)
2g.111997400T>GCA348231366MERTKc.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)
2g.111997401G>ACA348231370MERTKc.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
2g.111997401G>CCA348231372MERTKc.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)
2g.111997401G=CA1279566564MERTKc.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=)
2g.111997401G>TCA348231368MERTKc.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)
2g.111997402delCA2586969802MERTKc.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)
2g.111997402T>ACA348231373MERTKc.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)
2g.111997402T>CCA348231374MERTKc.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
2g.111997402T>GCA348231376MERTKc.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)
2g.111997403G>ACA348231378MERTKc.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
2g.111997403G>CCA348231380MERTKc.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)
2g.111997403G>TCA348231381MERTKc.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)
2g.111997404G>ACA348231383MERTKc.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
2g.111997404G>CCA348231385MERTKc.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)
2g.111997404G=CA1279566565MERTKc.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=)
2g.111997404G>TCA348231387MERTKc.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)
2g.111997405A=CA1279566566MERTKc.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=)
2g.111997405A>CCA348231388MERTKc.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=)
2g.111997405A>GCA1831453MERTKc.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
2g.111997405A>TCA348231391MERTKc.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=)
2g.111997406T>ACA348231394MERTKc.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
2g.111997406T>CCA348231396MERTKc.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
2g.111997406T>GCA348231393MERTKc.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)
2g.111997406T=CA1279566567MERTKc.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=)
2g.111997407T>ACA348231398MERTKc.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)
2g.111997407T>CCA348231400MERTKc.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)
2g.111997407T>GCA348231401MERTKc.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)
2g.111997408T>ACA348231403MERTKc.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)
2g.111997408T>CCA1831454MERTKc.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
2g.111997408T>GCA348231405MERTKc.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)
2g.111997408T=CA1279566568MERTKc.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=)
2g.111997409A>CCA348231410MERTKc.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)
2g.111997409A>GCA348231407MERTKc.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)
2g.111997409A>TCA348231408MERTKc.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)
2g.111997410T>ACA348231411MERTKc.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)
2g.111997410T>CCA348231412MERTKc.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)
2g.111997410T>GCA348231413MERTKc.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)
2g.111997411T>ACA348231416MERTKc.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=)
2g.111997411T>CCA348231417MERTKc.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=)
2g.111997411T>GCA348231419MERTKc.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
2g.111997412T>ACA348231420MERTKc.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)
2g.111997412T>CCA428274288MERTKc.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=)
2g.111997412T>GCA348231422MERTKc.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)
2g.111997413T>ACA348231424MERTKc.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)
2g.111997413T>CCA1831455MERTKc.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
2g.111997413T>GCA348231425MERTKc.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)
2g.111997413T=CA1279566569MERTKc.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=)
2g.111997414G>ACA428274289MERTKc.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=)
2g.111997414G>CCA348231426MERTKc.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
2g.111997414G>TCA348231427MERTKc.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
2g.111997415A>CCA348231428MERTKc.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)
2g.111997415A>GCA348231429MERTKc.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
2g.111997415A>TCA348231430MERTKc.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
2g.111997416T>ACA348231431MERTKc.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)
2g.111997416T>CCA348231432MERTKc.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)
2g.111997416T>GCA348231433MERTKc.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
2g.111997417T>ACA428274291MERTKc.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=)
2g.111997417T>CCA428274292MERTKc.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
2g.111997417T>GCA348231434MERTKc.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
2g.111997418G>ACA348231435MERTKc.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
2g.111997418G>CCA348231437MERTKc.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)
2g.111997418G=CA1279566570MERTKc.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=)
2g.111997418G>TCA348231439MERTKc.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)
2g.111997419G>ACA348231444MERTKc.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)
2g.111997419G>CCA348231442MERTKc.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)
2g.111997419G>TCA348231440MERTKc.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)
2g.111997420G>ACA1831456MERTKc.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
2g.111997420G>CCA428274296MERTKc.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=)
2g.111997420G=CA1279566571MERTKc.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=)
2g.111997420G>TCA428274298MERTKc.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=)
2g.111997421T>ACA348231446MERTKc.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
2g.111997421T>CCA1831457MERTKc.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
2g.111997421T>GCA348231449MERTKc.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)
2g.111997421T=CA1279566572MERTKc.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=)
2g.111997422T>ACA348231450MERTKc.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)
2g.111997422T>CCA348231452MERTKc.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)
2g.111997422T>GCA348231454MERTKc.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)
2g.111997423G>ACA428274301MERTKc.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=)
2g.111997423G>CCA348231455MERTKc.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)
2g.111997423G>TCA348231457MERTKc.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)
2g.111997424A=CA1279566573MERTKc.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=)
2g.111997424A>CCA348231458MERTKc.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)
2g.111997424A>GCA1831458MERTKc.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
2g.111997424A>TCA348231460MERTKc.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
2g.111997425T>ACA348231464MERTKc.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)
2g.111997425T>CCA348231465MERTKc.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
2g.111997425T>GCA348231462MERTKc.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)
2g.111997425T=CA1279566574MERTKc.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=)
2g.111997426T>ACA428274303MERTKc.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=)
2g.111997426T>CCA428274304MERTKc.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=)
2g.111997426T>GCA348231467MERTKc.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)
2g.111997427T>ACA348231468MERTKc.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
2g.111997427T>CCA428274307MERTKc.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=)
2g.111997427T>GCA348231469MERTKc.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)
2g.111997428T>ACA348231471MERTKc.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)
2g.111997428T>CCA348231472MERTKc.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)
2g.111997428T>GCA348231473MERTKc.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)
2g.111997429A=CA1279566575MERTKc.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=)
2g.111997429A>CCA348231475MERTKc.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)
2g.111997429A>GCA428274308MERTKc.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
2g.111997429A>TCA348231477MERTKc.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
2g.111997430T>ACA348231479MERTKc.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)
2g.111997430T>CCA348231480MERTKc.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)
2g.111997430T>GCA348231481MERTKc.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)
2g.111997431A=CA1279566576MERTKc.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=)
2g.111997431A>CCA348231483MERTKc.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)
2g.111997431A>GCA1831459MERTKc.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
2g.111997431A>TCA348231486MERTKc.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)
2g.111997432C>ACA348231488MERTKc.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)
2g.111997432C=CA1279566577MERTKc.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=)
2g.111997432C>GCA348231489MERTKc.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)
2g.111997432C>TCA428274310MERTKc.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
2g.111997433A=CA1279566578MERTKc.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=)
2g.111997433A>CCA348231491MERTKc.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)
2g.111997433A>GCA348231492MERTKc.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
2g.111997433A>TCA348231494MERTKc.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)
2g.111997434T>ACA348231496MERTKc.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)
2g.111997434T>CCA348231498MERTKc.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
2g.111997434T>GCA348231499MERTKc.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)
2g.111997434T=CA1279566579MERTKc.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=)
2g.111997435C>ACA428274314MERTKc.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=)
2g.111997435C>GCA348231501MERTKc.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)
2g.111997435C>TCA428274315MERTKc.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
2g.111997436T>ACA348231502MERTKc.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)
2g.111997436T>CCA348231503MERTKc.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)
2g.111997436T>GCA348231505MERTKc.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)
2g.111997437C>ACA348231507MERTKc.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
2g.111997437C=CA1279566580MERTKc.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=)
2g.111997437C>GCA348231508MERTKc.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)
2g.111997437C>TCA1831460MERTKc.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
2g.111997438C>ACA428274317MERTKc.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=)
2g.111997438C>GCA428274318MERTKc.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=)
2g.111997438C>TCA428274319MERTKc.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
2g.111997439T>ACA348231511MERTKc.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)
2g.111997439T>CCA428274320MERTKc.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=)
2g.111997439T>GCA348231512MERTKc.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)
2g.111997440T>ACA348231514MERTKc.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
2g.111997440T>CCA348231517MERTKc.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)
2g.111997440T>GCA348231515MERTKc.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)
2g.111997440_111997441insACA2751719123MERTKc.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)
2g.111997441G>ACA428274323MERTKc.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
2g.111997441G>CCA348231519MERTKc.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
2g.111997441G>TCA348231520MERTKc.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)
2g.111997441_111997442insTCA2751719124MERTKc.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)
2g.111997442G>ACA348231522MERTKc.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)
2g.111997442G>CCA348231523MERTKc.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
2g.111997442G=CA1279566581MERTKc.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=)
2g.111997442G>TCA348231525MERTKc.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)
2g.111997443C>ACA348231526MERTKc.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)
2g.111997443C=CA1279566582MERTKc.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=)
2g.111997443C>GCA348231527MERTKc.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
2g.111997443C>TCA348231529MERTKc.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
2g.111997443_111997453delCA2660689214MERTKc.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

Number of alleles fetched