Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.100883402C>ACA7347319RTL1c.1387G>T (p.Asp463Tyr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.100883402C=CA2159075101RTL1c.1387G= (p.Asp463=)
14g.100883402C>GCA390996292RTL1c.1387G>C (p.Asp463His)
14g.100883402C>TCA390996293RTL1c.1387G>A (p.Asp463Asn)
14g.100883403C>ACA488181446RTL1c.1386G>T (p.Val462=)
14g.100883403C>GCA488181447RTL1c.1386G>C (p.Val462=)
14g.100883403C>TCA488181448RTL1c.1386G>A (p.Val462=)
gnomAD v4
14g.100883404A>CCA390996294RTL1c.1385T>G (p.Val462Gly)
14g.100883404A>GCA390996295RTL1c.1385T>C (p.Val462Ala)
14g.100883404A>TCA390996296RTL1c.1385T>A (p.Val462Glu)
14g.100883405C>ACA390996297RTL1c.1384G>T (p.Val462Leu)
14g.100883405C=CA2159075102RTL1c.1384G= (p.Val462=)
14g.100883405C>GCA390996298RTL1c.1384G>C (p.Val462Leu)
14g.100883405C>TCA390996299RTL1c.1384G>A (p.Val462Met)
dbSNP gnomAD v2 gnomAD v4
14g.100883406G>ACA7347320RTL1c.1383C>T (p.Ser461=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.100883406G>CCA488181460RTL1c.1383C>G (p.Ser461=)
14g.100883406G=CA2159075103RTL1c.1383C= (p.Ser461=)
14g.100883406G>TCA488181466RTL1c.1383C>A (p.Ser461=)
14g.100883407G>ACA390996300RTL1c.1382C>T (p.Ser461Phe)
dbSNP
14g.100883407G>CCA390996301RTL1c.1382C>G (p.Ser461Cys)
14g.100883407G=CA2159075104RTL1c.1382C= (p.Ser461=)
14g.100883407G>TCA7347321RTL1c.1382C>A (p.Ser461Tyr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.100883408A>CCA390996302RTL1c.1381T>G (p.Ser461Ala)
14g.100883408A>GCA390996303RTL1c.1381T>C (p.Ser461Pro)
14g.100883408A>TCA390996304RTL1c.1381T>A (p.Ser461Thr)
gnomAD v4
14g.100883409T>ACA390996305RTL1c.1380A>T (p.Gln460His)
14g.100883409T>CCA488181476RTL1c.1380A>G (p.Gln460=)
14g.100883409T>GCA390996306RTL1c.1380A>C (p.Gln460His)
14g.100883410T>ACA390996307RTL1c.1379A>T (p.Gln460Leu)
14g.100883410T>CCA390996308RTL1c.1379A>G (p.Gln460Arg)
dbSNP gnomAD v3 gnomAD v4
14g.100883410T>GCA390996309RTL1c.1379A>C (p.Gln460Pro)
14g.100883410T=CA2159075105RTL1c.1379A= (p.Gln460=)
14g.100883411G>ACA390996310RTL1c.1378C>T (p.Gln460Ter)
14g.100883411G>CCA390996311RTL1c.1378C>G (p.Gln460Glu)
gnomAD v4
14g.100883411G>TCA390996312RTL1c.1378C>A (p.Gln460Lys)
14g.100883412G>ACA488181484RTL1c.1377C>T (p.Val459=)
dbSNP gnomAD v2
14g.100883412G>CCA488181486RTL1c.1377C>G (p.Val459=)
14g.100883412G=CA2159075106RTL1c.1377C= (p.Val459=)
14g.100883412G>TCA488181488RTL1c.1377C>A (p.Val459=)
gnomAD v4
14g.100883413A>CCA390996315RTL1c.1376T>G (p.Val459Gly)
14g.100883413A>GCA390996314RTL1c.1376T>C (p.Val459Ala)
14g.100883413A>TCA390996313RTL1c.1376T>A (p.Val459Asp)
14g.100883414C>ACA390996316RTL1c.1375G>T (p.Val459Phe)
gnomAD v4
14g.100883414C=CA2159075107RTL1c.1375G= (p.Val459=)
14g.100883414C>GCA266905736RTL1c.1375G>C (p.Val459Leu)
dbSNP gnomAD v3 gnomAD v4
14g.100883414C>TCA390996317RTL1c.1375G>A (p.Val459Ile)
14g.100883415C>ACA488181491RTL1c.1374G>T (p.Pro458=)
gnomAD v4
14g.100883415C=CA2159075108RTL1c.1374G= (p.Pro458=)
14g.100883415C>GCA488181495RTL1c.1374G>C (p.Pro458=)
gnomAD v4
14g.100883415C>TCA7347322RTL1c.1374G>A (p.Pro458=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.100883416G>ACA7347323RTL1c.1373C>T (p.Pro458Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.100883416G>CCA390996318RTL1c.1373C>G (p.Pro458Arg)
14g.100883416G=CA2159075109RTL1c.1373C= (p.Pro458=)
14g.100883416G>TCA390996319RTL1c.1373C>A (p.Pro458Gln)
gnomAD v4
14g.100883417G>ACA390996320RTL1c.1372C>T (p.Pro458Ser)
14g.100883417G>CCA390996321RTL1c.1372C>G (p.Pro458Ala)
14g.100883417G>TCA390996322RTL1c.1372C>A (p.Pro458Thr)
14g.100883418C>ACA390996323RTL1c.1371G>T (p.Gln457His)
14g.100883418C>GCA390996324RTL1c.1371G>C (p.Gln457His)
14g.100883418C>TCA488181506RTL1c.1371G>A (p.Gln457=)
14g.100883419T>ACA390996326RTL1c.1370A>T (p.Gln457Leu)
14g.100883419T>CCA390996327RTL1c.1370A>G (p.Gln457Arg)
14g.100883419T>GCA390996325RTL1c.1370A>C (p.Gln457Pro)
14g.100883420G>ACA390996330RTL1c.1369C>T (p.Gln457Ter)
14g.100883420G>CCA390996328RTL1c.1369C>G (p.Gln457Glu)
gnomAD v4
14g.100883420G>TCA390996329RTL1c.1369C>A (p.Gln457Lys)
14g.100883421T>ACA488181515RTL1c.1368A>T (p.Pro456=)
14g.100883421T>CCA488181519RTL1c.1368A>G (p.Pro456=)
14g.100883421T>GCA488181520RTL1c.1368A>C (p.Pro456=)
14g.100883422G>ACA390996331RTL1c.1367C>T (p.Pro456Leu)
14g.100883422G>CCA390996332RTL1c.1367C>G (p.Pro456Arg)
dbSNP gnomAD v3 gnomAD v4
14g.100883422G=CA2159075111RTL1c.1367C= (p.Pro456=)
14g.100883422G>TCA390996333RTL1c.1367C>A (p.Pro456Gln)
14g.100883423G>ACA390996334RTL1c.1366C>T (p.Pro456Ser)
gnomAD v4
14g.100883423G>CCA390996335RTL1c.1366C>G (p.Pro456Ala)
dbSNP gnomAD v2 gnomAD v4
14g.100883423G=CA2159075116RTL1c.1366C= (p.Pro456=)
14g.100883423G>TCA390996336RTL1c.1366C>A (p.Pro456Thr)
gnomAD v4
14g.100883424G>ACA488181534RTL1c.1365C>T (p.Tyr455=)
14g.100883424G>CCA390996337RTL1c.1365C>G (p.Tyr455Ter)
14g.100883424G>TCA390996338RTL1c.1365C>A (p.Tyr455Ter)
dbSNP gnomAD v4
14g.100883425T>ACA390996339RTL1c.1364A>T (p.Tyr455Phe)
14g.100883425T>CCA390996340RTL1c.1364A>G (p.Tyr455Cys)
14g.100883425T>GCA390996341RTL1c.1364A>C (p.Tyr455Ser)
14g.100883426A>CCA390996344RTL1c.1363T>G (p.Tyr455Asp)
14g.100883426A>GCA390996343RTL1c.1363T>C (p.Tyr455His)
14g.100883426A>TCA390996342RTL1c.1363T>A (p.Tyr455Asn)
14g.100883427delCA2530559608RTL1c.1362del (p.Tyr455ThrfsTer12)
14g.100883427C>ACA488181548RTL1c.1362G>T (p.Pro454=)
14g.100883427C=CA2159075117RTL1c.1362G= (p.Pro454=)
14g.100883427C>GCA488181549RTL1c.1362G>C (p.Pro454=)
dbSNP
14g.100883427C>TCA7347324RTL1c.1362G>A (p.Pro454=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.100883428G>ACA390996345RTL1c.1361C>T (p.Pro454Leu)
dbSNP gnomAD v4
14g.100883428G>CCA390996346RTL1c.1361C>G (p.Pro454Arg)
dbSNP gnomAD v2 gnomAD v4
14g.100883428G=CA2159075119RTL1c.1361C= (p.Pro454=)
14g.100883428G>TCA390996347RTL1c.1361C>A (p.Pro454Gln)
14g.100883429dupCA266905759RTL1c.1361dup (p.Tyr455ValfsTer?)
dbSNP
14g.100883429G>ACA390996348RTL1c.1360C>T (p.Pro454Ser)
14g.100883429G>CCA390996349RTL1c.1360C>G (p.Pro454Ala)
14g.100883429G>TCA390996350RTL1c.1360C>A (p.Pro454Thr)
14g.100883430C>ACA390996351RTL1c.1359G>T (p.Lys453Asn)
14g.100883430C=CA2159075122RTL1c.1359G= (p.Lys453=)
14g.100883430C>GCA390996352RTL1c.1359G>C (p.Lys453Asn)
14g.100883430C>TCA488181561RTL1c.1359G>A (p.Lys453=)
dbSNP
14g.100883431T>ACA390996353RTL1c.1358A>T (p.Lys453Met)
14g.100883431T>CCA390996354RTL1c.1358A>G (p.Lys453Arg)
14g.100883431T>GCA390996355RTL1c.1358A>C (p.Lys453Thr)
14g.100883432T>ACA390996357RTL1c.1357A>T (p.Lys453Ter)
dbSNP gnomAD v4
14g.100883432T>CCA390996358RTL1c.1357A>G (p.Lys453Glu)
14g.100883432T>GCA390996356RTL1c.1357A>C (p.Lys453Gln)
14g.100883432T=CA2159075124RTL1c.1357A= (p.Lys453=)
14g.100883433C>ACA390996359RTL1c.1356G>T (p.Glu452Asp)
14g.100883433C=CA2159075125RTL1c.1356G= (p.Glu452=)
14g.100883433C>GCA390996360RTL1c.1356G>C (p.Glu452Asp)
14g.100883433C>TCA488181574RTL1c.1356G>A (p.Glu452=)
dbSNP gnomAD v2
14g.100883434T>ACA390996361RTL1c.1355A>T (p.Glu452Val)
14g.100883434T>CCA390996362RTL1c.1355A>G (p.Glu452Gly)
14g.100883434T>GCA390996363RTL1c.1355A>C (p.Glu452Ala)
14g.100883435C>ACA390996364RTL1c.1354G>T (p.Glu452Ter)
gnomAD v4
14g.100883435C=CA2159075126RTL1c.1354G= (p.Glu452=)
14g.100883435C>GCA390996365RTL1c.1354G>C (p.Glu452Gln)
14g.100883435C>TCA266905762RTL1c.1354G>A (p.Glu452Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.100883436delCA2626553882RTL1c.1353del (p.Tyr451Ter)
gnomAD v4
14g.100883436G>ACA488181578RTL1c.1353C>T (p.Tyr451=)
dbSNP gnomAD v2 gnomAD v4
14g.100883436G>CCA266905772RTL1c.1353C>G (p.Tyr451Ter)
dbSNP gnomAD v2 gnomAD v4
14g.100883436G=CA2159075127RTL1c.1353C= (p.Tyr451=)
14g.100883436G>TCA390996366RTL1c.1353C>A (p.Tyr451Ter)
14g.100883436dupCA2626553881RTL1c.1353dup (p.Glu452ArgfsTer?)
gnomAD v4
14g.100883437T>ACA390996367RTL1c.1352A>T (p.Tyr451Phe)
14g.100883437T>CCA390996368RTL1c.1352A>G (p.Tyr451Cys)
dbSNP gnomAD v4
14g.100883437T>GCA390996369RTL1c.1352A>C (p.Tyr451Ser)
14g.100883437T=CA2159075130RTL1c.1352A= (p.Tyr451=)
14g.100883438A=CA2159075131RTL1c.1351T= (p.Tyr451=)
14g.100883438A>CCA390996370RTL1c.1351T>G (p.Tyr451Asp)
14g.100883438A>GCA390996372RTL1c.1351T>C (p.Tyr451His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.100883438A>TCA390996371RTL1c.1351T>A (p.Tyr451Asn)
14g.100883439G>ACA488181584RTL1c.1350C>T (p.Leu450=)
14g.100883439G>CCA488181585RTL1c.1350C>G (p.Leu450=)
14g.100883439G>TCA488181586RTL1c.1350C>A (p.Leu450=)
14g.100883440A>CCA390996373RTL1c.1349T>G (p.Leu450Arg)
14g.100883440A>GCA390996374RTL1c.1349T>C (p.Leu450Pro)
14g.100883440A>TCA390996375RTL1c.1349T>A (p.Leu450His)
14g.100883441G>ACA390996376RTL1c.1348C>T (p.Leu450Phe)
14g.100883441G>CCA390996377RTL1c.1348C>G (p.Leu450Val)
14g.100883441G>TCA390996378RTL1c.1348C>A (p.Leu450Ile)
14g.100883445_100883456dupCA2575625512RTL1c.1337_1348dup (p.Glu449_Leu450insHisTyrValGlu)
14g.100883442C>ACA390996379RTL1c.1347G>T (p.Glu449Asp)
14g.100883442C=CA2159075133RTL1c.1347G= (p.Glu449=)
14g.100883442C>GCA390996380RTL1c.1347G>C (p.Glu449Asp)
14g.100883442C>TCA488181589RTL1c.1347G>A (p.Glu449=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.100883443T>ACA390996381RTL1c.1346A>T (p.Glu449Val)
14g.100883443T>CCA390996382RTL1c.1346A>G (p.Glu449Gly)
14g.100883443T>GCA390996383RTL1c.1346A>C (p.Glu449Ala)
14g.100883444C>ACA390996385RTL1c.1345G>T (p.Glu449Ter)
14g.100883444C=CA2159075134RTL1c.1345G= (p.Glu449=)
14g.100883444C>GCA390996386RTL1c.1345G>C (p.Glu449Gln)
14g.100883444C>TCA390996384RTL1c.1345G>A (p.Glu449Lys)
dbSNP gnomAD v4
14g.100883445G>ACA488181607RTL1c.1344C>T (p.Val448=)
14g.100883445G>CCA488181610RTL1c.1344C>G (p.Val448=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.100883445G=CA2159075135RTL1c.1344C= (p.Val448=)
14g.100883445G>TCA488181611RTL1c.1344C>A (p.Val448=)
dbSNP gnomAD v4
14g.100883446A>CCA390996389RTL1c.1343T>G (p.Val448Gly)
14g.100883446A>GCA390996387RTL1c.1343T>C (p.Val448Ala)
14g.100883446A>TCA390996388RTL1c.1343T>A (p.Val448Asp)
14g.100883447C>ACA390996390RTL1c.1342G>T (p.Val448Phe)
14g.100883447C=CA2159075136RTL1c.1342G= (p.Val448=)
14g.100883447C>GCA266905783RTL1c.1342G>C (p.Val448Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.100883447C>TCA390996391RTL1c.1342G>A (p.Val448Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.100883448G>ACA488181615RTL1c.1341C>T (p.Tyr447=)
dbSNP gnomAD v3 gnomAD v4 COSMIC
14g.100883448G>CCA390996392RTL1c.1341C>G (p.Tyr447Ter)
gnomAD v4
14g.100883448G=CA2159075137RTL1c.1341C= (p.Tyr447=)
14g.100883448G>TCA390996393RTL1c.1341C>A (p.Tyr447Ter)
14g.100883448_100883449dupCA703097607RTL1c.1340_1341dup (p.Val448ThrfsTer20)
dbSNP
14g.100883449T>ACA390996394RTL1c.1340A>T (p.Tyr447Phe)
14g.100883449T>CCA390996395RTL1c.1340A>G (p.Tyr447Cys)
14g.100883449T>GCA390996396RTL1c.1340A>C (p.Tyr447Ser)
14g.100883450A>CCA390996397RTL1c.1339T>G (p.Tyr447Asp)
gnomAD v4
14g.100883450A>GCA390996398RTL1c.1339T>C (p.Tyr447His)
14g.100883450A>TCA390996399RTL1c.1339T>A (p.Tyr447Asn)
14g.100883451G>ACA488181624RTL1c.1338C>T (p.His446=)
14g.100883451G>CCA390996401RTL1c.1338C>G (p.His446Gln)
14g.100883451G>TCA390996400RTL1c.1338C>A (p.His446Gln)
14g.100883452T>ACA390996402RTL1c.1337A>T (p.His446Leu)
14g.100883452T>CCA390996403RTL1c.1337A>G (p.His446Arg)
14g.100883452T>GCA390996404RTL1c.1337A>C (p.His446Pro)
14g.100883453G>ACA390996405RTL1c.1336C>T (p.His446Tyr)
14g.100883453G>CCA390996406RTL1c.1336C>G (p.His446Asp)
14g.100883453G>TCA390996407RTL1c.1336C>A (p.His446Asn)
14g.100883454C>ACA390996408RTL1c.1335G>T (p.Glu445Asp)
14g.100883454C>GCA390996409RTL1c.1335G>C (p.Glu445Asp)
14g.100883454C>TCA488181632RTL1c.1335G>A (p.Glu445=)
gnomAD v4 COSMIC
14g.100883455T>ACA390996410RTL1c.1334A>T (p.Glu445Val)
dbSNP gnomAD v2 gnomAD v4
14g.100883455T>CCA7347325RTL1c.1334A>G (p.Glu445Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.100883455T>GCA390996411RTL1c.1334A>C (p.Glu445Ala)
14g.100883455T=CA2159075140RTL1c.1334A= (p.Glu445=)
14g.100883456C>ACA390996412RTL1c.1333G>T (p.Glu445Ter)
14g.100883456C=CA2159075142RTL1c.1333G= (p.Glu445=)
14g.100883456C>GCA390996413RTL1c.1333G>C (p.Glu445Gln)
14g.100883456C>TCA390996414RTL1c.1333G>A (p.Glu445Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.100883457T>ACA390996415RTL1c.1332A>T (p.Gln444His)
14g.100883457T>CCA488181639RTL1c.1332A>G (p.Gln444=)
14g.100883457T>GCA390996416RTL1c.1332A>C (p.Gln444His)
14g.100883458T>ACA390996417RTL1c.1331A>T (p.Gln444Leu)
14g.100883458T>CCA390996419RTL1c.1331A>G (p.Gln444Arg)
gnomAD v4
14g.100883458T>GCA390996418RTL1c.1331A>C (p.Gln444Pro)
14g.100883459G>ACA390996420RTL1c.1330C>T (p.Gln444Ter)
14g.100883459G>CCA390996421RTL1c.1330C>G (p.Gln444Glu)
dbSNP gnomAD v4
14g.100883459G=CA2159075143RTL1c.1330C= (p.Gln444=)
14g.100883459G>TCA390996422RTL1c.1330C>A (p.Gln444Lys)
dbSNP gnomAD v3 gnomAD v4
14g.100883460G>ACA488181659RTL1c.1329C>T (p.Ala443=)
14g.100883460G>CCA488181656RTL1c.1329C>G (p.Ala443=)
14g.100883460G>TCA488181655RTL1c.1329C>A (p.Ala443=)
14g.100883461G>ACA390996423RTL1c.1328C>T (p.Ala443Val)
14g.100883461G>CCA390996424RTL1c.1328C>G (p.Ala443Gly)
14g.100883461G>TCA390996425RTL1c.1328C>A (p.Ala443Asp)
14g.100883462C>ACA390996426RTL1c.1327G>T (p.Ala443Ser)
dbSNP
14g.100883462C=CA2159075144RTL1c.1327G= (p.Ala443=)
14g.100883462C>GCA390996427RTL1c.1327G>C (p.Ala443Pro)
gnomAD v4
14g.100883462C>TCA390996428RTL1c.1327G>A (p.Ala443Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.100883463G>ACA488181669RTL1c.1326C>T (p.Phe442=)
dbSNP gnomAD v4 COSMIC
14g.100883463G>CCA390996429RTL1c.1326C>G (p.Phe442Leu)
14g.100883463G=CA2159075145RTL1c.1326C= (p.Phe442=)
14g.100883463G>TCA390996430RTL1c.1326C>A (p.Phe442Leu)
14g.100883464A>CCA390996433RTL1c.1325T>G (p.Phe442Cys)
14g.100883464A>GCA390996432RTL1c.1325T>C (p.Phe442Ser)
14g.100883464A>TCA390996431RTL1c.1325T>A (p.Phe442Tyr)
14g.100883465A=CA2159075146RTL1c.1324T= (p.Phe442=)
14g.100883465A>CCA390996434RTL1c.1324T>G (p.Phe442Val)
14g.100883465A>GCA7347326RTL1c.1324T>C (p.Phe442Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.100883465A>TCA390996435RTL1c.1324T>A (p.Phe442Ile)
gnomAD v4
14g.100883466C>ACA390996436RTL1c.1323G>T (p.Lys441Asn)
14g.100883466C=CA2159075147RTL1c.1323G= (p.Lys441=)
14g.100883466C>GCA266905819RTL1c.1323G>C (p.Lys441Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.100883466C>TCA488181679RTL1c.1323G>A (p.Lys441=)
14g.100883467T>ACA390996437RTL1c.1322A>T (p.Lys441Met)
14g.100883467T>CCA390996438RTL1c.1322A>G (p.Lys441Arg)
14g.100883467T>GCA390996439RTL1c.1322A>C (p.Lys441Thr)
gnomAD v4
14g.100883468T>ACA390996440RTL1c.1321A>T (p.Lys441Ter)
14g.100883468T>CCA390996441RTL1c.1321A>G (p.Lys441Glu)
14g.100883468T>GCA390996442RTL1c.1321A>C (p.Lys441Gln)
14g.100883469C>ACA390996443RTL1c.1320G>T (p.Glu440Asp)
14g.100883469C=CA2159075150RTL1c.1320G= (p.Glu440=)
14g.100883469C>GCA390996444RTL1c.1320G>C (p.Glu440Asp)
14g.100883469C>TCA488181698RTL1c.1320G>A (p.Glu440=)
dbSNP
14g.100883470T>ACA390996446RTL1c.1319A>T (p.Glu440Val)
14g.100883470T>CCA390996447RTL1c.1319A>G (p.Glu440Gly)
14g.100883470T>GCA390996445RTL1c.1319A>C (p.Glu440Ala)
14g.100883471C>ACA390996450RTL1c.1318G>T (p.Glu440Ter)
gnomAD v4
14g.100883471C>GCA390996448RTL1c.1318G>C (p.Glu440Gln)
14g.100883471C>TCA390996449RTL1c.1318G>A (p.Glu440Lys)
14g.100883472A>CCA390996451RTL1c.1317T>G (p.Asp439Glu)
gnomAD v4
14g.100883472A>GCA488181704RTL1c.1317T>C (p.Asp439=)
14g.100883472A>TCA390996452RTL1c.1317T>A (p.Asp439Glu)
14g.100883473T>ACA390996453RTL1c.1316A>T (p.Asp439Val)
14g.100883473T>CCA390996454RTL1c.1316A>G (p.Asp439Gly)
dbSNP gnomAD v3 gnomAD v4
14g.100883473T>GCA390996455RTL1c.1316A>C (p.Asp439Ala)
14g.100883473T=CA2159075151RTL1c.1316A= (p.Asp439=)
14g.100883474C>ACA390996458RTL1c.1315G>T (p.Asp439Tyr)
14g.100883474C=CA2159075153RTL1c.1315G= (p.Asp439=)
14g.100883474C>GCA390996456RTL1c.1315G>C (p.Asp439His)
14g.100883474C>TCA390996457RTL1c.1315G>A (p.Asp439Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.100883475C>ACA390996459RTL1c.1314G>T (p.Met438Ile)
14g.100883475C=CA2159075154RTL1c.1314G= (p.Met438=)
14g.100883475C>GCA390996460RTL1c.1314G>C (p.Met438Ile)
14g.100883475C>TCA390996461RTL1c.1314G>A (p.Met438Ile)
dbSNP gnomAD v2 gnomAD v4
14g.100883476A=CA2159075155RTL1c.1313T= (p.Met438=)
14g.100883476A>CCA390996462RTL1c.1313T>G (p.Met438Arg)
14g.100883476A>GCA390996463RTL1c.1313T>C (p.Met438Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.100883476A>TCA390996464RTL1c.1313T>A (p.Met438Lys)
14g.100883477T>ACA390996465RTL1c.1312A>T (p.Met438Leu)
14g.100883477T>CCA390996467RTL1c.1312A>G (p.Met438Val)
gnomAD v4
14g.100883477T>GCA390996466RTL1c.1312A>C (p.Met438Leu)
14g.100883478G>ACA488181721RTL1c.1311C>T (p.Phe437=)
14g.100883478G>CCA390996468RTL1c.1311C>G (p.Phe437Leu)
14g.100883478G>TCA390996469RTL1c.1311C>A (p.Phe437Leu)
gnomAD v4
14g.100883478_100883479delinsGACA2159075156RTL1c.1310_1311delinsTC (p.Phe437=)
14g.100883479A>CCA390996470RTL1c.1310T>G (p.Phe437Cys)
14g.100883479A>GCA390996471RTL1c.1310T>C (p.Phe437Ser)
gnomAD v4
14g.100883479A>TCA390996472RTL1c.1310T>A (p.Phe437Tyr)
14g.100883480delCA2159075157RTL1c.1310del (p.Phe437SerfsTer30)
dbSNP
14g.100883480A>CCA390996473RTL1c.1309T>G (p.Phe437Val)
14g.100883480A>GCA390996474RTL1c.1309T>C (p.Phe437Leu)
14g.100883480A>TCA390996475RTL1c.1309T>A (p.Phe437Ile)
14g.100883481G>ACA488181735RTL1c.1308C>T (p.Asn436=)
dbSNP gnomAD v3 gnomAD v4
14g.100883481G>CCA390996476RTL1c.1308C>G (p.Asn436Lys)
14g.100883481G=CA2159075158RTL1c.1308C= (p.Asn436=)
14g.100883481G>TCA390996477RTL1c.1308C>A (p.Asn436Lys)
gnomAD v4
14g.100883482T>ACA390996478RTL1c.1307A>T (p.Asn436Ile)
14g.100883482T>CCA390996479RTL1c.1307A>G (p.Asn436Ser)
14g.100883482T>GCA390996480RTL1c.1307A>C (p.Asn436Thr)
14g.100883483T>ACA390996481RTL1c.1306A>T (p.Asn436Tyr)
14g.100883483T>CCA390996483RTL1c.1306A>G (p.Asn436Asp)
gnomAD v4
14g.100883483T>GCA390996482RTL1c.1306A>C (p.Asn436His)
14g.100883484G>ACA488181742RTL1c.1305C>T (p.Gly435=)
14g.100883484G>CCA488181738RTL1c.1305C>G (p.Gly435=)
14g.100883484G>TCA488181740RTL1c.1305C>A (p.Gly435=)
14g.100883485C>ACA390996484RTL1c.1304G>T (p.Gly435Val)
14g.100883485C=CA2159075159RTL1c.1304G= (p.Gly435=)
14g.100883485C>GCA390996485RTL1c.1304G>C (p.Gly435Ala)
gnomAD v4
14g.100883485C>TCA390996486RTL1c.1304G>A (p.Gly435Asp)
dbSNP gnomAD v3 gnomAD v4
14g.100883485_100883486insTCA2514427668RTL1c.1303_1304insA (p.Gly435GlufsTer6)
14g.100883486C>ACA390996487RTL1c.1303G>T (p.Gly435Cys)
dbSNP gnomAD v2 gnomAD v4
14g.100883486C=CA2159075161RTL1c.1303G= (p.Gly435=)
14g.100883486C>GCA390996488RTL1c.1303G>C (p.Gly435Arg)
gnomAD v4
14g.100883486C>TCA390996489RTL1c.1303G>A (p.Gly435Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.100883487G>ACA488181769RTL1c.1302C>T (p.Asp434=)
dbSNP gnomAD v4 COSMIC
14g.100883487G>CCA390996491RTL1c.1302C>G (p.Asp434Glu)
dbSNP gnomAD v4
14g.100883487G=CA2159075162RTL1c.1302C= (p.Asp434=)
14g.100883487G>TCA390996490RTL1c.1302C>A (p.Asp434Glu)
14g.100883488_100883491delCA2534973643RTL1c.1299_1302del (p.Asp434AlafsTer?)
14g.100883488T>ACA390996492RTL1c.1301A>T (p.Asp434Val)
14g.100883488T>CCA390996493RTL1c.1301A>G (p.Asp434Gly)
14g.100883488T>GCA390996494RTL1c.1301A>C (p.Asp434Ala)
14g.100883489C>ACA390996495RTL1c.1300G>T (p.Asp434Tyr)
14g.100883489C>GCA390996496RTL1c.1300G>C (p.Asp434His)
14g.100883489C>TCA390996497RTL1c.1300G>A (p.Asp434Asn)
14g.100883490delCA2500840373RTL1c.1299del (p.Asp434ThrfsTer?)
14g.100883490A=CA2159075164RTL1c.1299T= (p.Ala433=)
14g.100883490A>CCA488181784RTL1c.1299T>G (p.Ala433=)
14g.100883490A>GCA488181788RTL1c.1299T>C (p.Ala433=)
dbSNP gnomAD v4
14g.100883490A>TCA488181790RTL1c.1299T>A (p.Ala433=)
14g.100883491G>ACA390996498RTL1c.1298C>T (p.Ala433Val)
14g.100883491G>CCA390996500RTL1c.1298C>G (p.Ala433Gly)
dbSNP gnomAD v3 gnomAD v4
14g.100883491G=CA2159075165RTL1c.1298C= (p.Ala433=)
14g.100883491G>TCA390996499RTL1c.1298C>A (p.Ala433Asp)
14g.100883492C>ACA390996501RTL1c.1297G>T (p.Ala433Ser)
14g.100883492C>GCA390996502RTL1c.1297G>C (p.Ala433Pro)
14g.100883492C>TCA390996503RTL1c.1297G>A (p.Ala433Thr)
14g.100883493T>ACA488181798RTL1c.1296A>T (p.Gly432=)
14g.100883493T>CCA488181799RTL1c.1296A>G (p.Gly432=)
14g.100883493T>GCA488181800RTL1c.1296A>C (p.Gly432=)
14g.100883493_100883503delinsTCCCGAATCCACA2159075166RTL1c.1286_1296delinsTGGATTCGGGA (p.Val429=)
14g.100883493_100883494insGGCA2505227173RTL1c.1295_1296insCC (p.Ala433GlnfsTer?)
14g.100883494C>ACA390996504RTL1c.1295G>T (p.Gly432Val)
14g.100883494C>GCA390996505RTL1c.1295G>C (p.Gly432Ala)
14g.100883494C>TCA390996506RTL1c.1295G>A (p.Gly432Glu)
14g.100883496_100883505delCA2159075167RTL1c.1286_1295del (p.Val429GlufsTer?)
dbSNP
14g.100883495C>ACA390996507RTL1c.1294G>T (p.Gly432Ter)
14g.100883495C>GCA390996508RTL1c.1294G>C (p.Gly432Arg)
14g.100883495C>TCA390996509RTL1c.1294G>A (p.Gly432Arg)
14g.100883496C>ACA488181807RTL1c.1293G>T (p.Ser431=)
14g.100883496C=CA2159075168RTL1c.1293G= (p.Ser431=)
14g.100883496C>GCA266905840RTL1c.1293G>C (p.Ser431=)
dbSNP gnomAD v2 gnomAD v4
14g.100883496C>TCA266905830RTL1c.1293G>A (p.Ser431=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.100883496_100883497insCGCA2499881842RTL1c.1292_1293insCG (p.Ala433GlufsTer?)
14g.100883497G>ACA390996510RTL1c.1292C>T (p.Ser431Leu)
COSMIC
14g.100883497G>CCA390996512RTL1c.1292C>G (p.Ser431Trp)
14g.100883497G>TCA390996511RTL1c.1292C>A (p.Ser431Ter)
14g.100883498A>CCA390996513RTL1c.1291T>G (p.Ser431Ala)
14g.100883498A>GCA390996514RTL1c.1291T>C (p.Ser431Pro)
14g.100883498A>TCA390996515RTL1c.1291T>A (p.Ser431Thr)
14g.100883499A>CCA390996516RTL1c.1290T>G (p.Asp430Glu)
gnomAD v4
14g.100883499A>GCA488181815RTL1c.1290T>C (p.Asp430=)
gnomAD v4
14g.100883499A>TCA390996517RTL1c.1290T>A (p.Asp430Glu)
14g.100883500T>ACA390996520RTL1c.1289A>T (p.Asp430Val)
14g.100883500T>CCA390996519RTL1c.1289A>G (p.Asp430Gly)
14g.100883500T>GCA390996518RTL1c.1289A>C (p.Asp430Ala)
dbSNP
14g.100883501C>ACA390996521RTL1c.1288G>T (p.Asp430Tyr)
gnomAD v4
14g.100883501C>GCA390996522RTL1c.1288G>C (p.Asp430His)
14g.100883501C>TCA390996523RTL1c.1288G>A (p.Asp430Asn)
dbSNP
14g.100883502C>ACA488181819RTL1c.1287G>T (p.Val429=)
14g.100883502C>GCA488181820RTL1c.1287G>C (p.Val429=)
14g.100883502C>TCA488181822RTL1c.1287G>A (p.Val429=)
gnomAD v4

Number of alleles fetched