Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.100883255G>ACA390995972RTL1c.1534C>T (p.His512Tyr)
14g.100883255G>CCA390995974RTL1c.1534C>G (p.His512Asp)
gnomAD v4
14g.100883255G>TCA390995973RTL1c.1534C>A (p.His512Asn)
14g.100883255_100883257delCA2802833482RTL1c.1532_1534del (p.Val511_His512delinsAsp)
14g.100883256G>ACA488181779RTL1c.1533C>T (p.Val511=)
COSMIC
14g.100883256G>CCA488181781RTL1c.1533C>G (p.Val511=)
dbSNP gnomAD v2 gnomAD v4
14g.100883256G=CA2159075022RTL1c.1533C= (p.Val511=)
14g.100883256G>TCA488181785RTL1c.1533C>A (p.Val511=)
14g.100883257A=CA2159075023RTL1c.1532T= (p.Val511=)
14g.100883257A>CCA390995975RTL1c.1532T>G (p.Val511Gly)
14g.100883257A>GCA390995976RTL1c.1532T>C (p.Val511Ala)
dbSNP gnomAD v3 gnomAD v4
14g.100883257A>TCA266905487RTL1c.1532T>A (p.Val511Asp)
dbSNP gnomAD v3 gnomAD v4
14g.100883257_100883258insGCA2802833483RTL1c.1531_1532insC (p.Val511AlafsTer?)
14g.100883258C>ACA390995977RTL1c.1531G>T (p.Val511Phe)
14g.100883258C>GCA390995979RTL1c.1531G>C (p.Val511Leu)
14g.100883258C>TCA390995978RTL1c.1531G>A (p.Val511Ile)
14g.100883259T>ACA488181795RTL1c.1530A>T (p.Arg510=)
14g.100883259T>CCA488181796RTL1c.1530A>G (p.Arg510=)
14g.100883259T>GCA488181797RTL1c.1530A>C (p.Arg510=)
14g.100883260delCA2802833484RTL1c.1529del (p.Arg510GlnfsTer22)
14g.100883260C>ACA390995980RTL1c.1529G>T (p.Arg510Leu)
gnomAD v4
14g.100883260C=CA2159075025RTL1c.1529G= (p.Arg510=)
14g.100883260C>GCA390995982RTL1c.1529G>C (p.Arg510Pro)
14g.100883260C>TCA390995981RTL1c.1529G>A (p.Arg510Gln)
dbSNP gnomAD v3 gnomAD v4
14g.100883261G>ACA390995983RTL1c.1528C>T (p.Arg510Ter)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.100883261G>CCA390995984RTL1c.1528C>G (p.Arg510Gly)
ClinVar gnomAD v4
14g.100883261G=CA2159075026RTL1c.1528C= (p.Arg510=)
14g.100883261G>TCA488181804RTL1c.1528C>A (p.Arg510=)
14g.100883261_100883262delCA2802833485RTL1c.1527_1528del (p.Arg510SerfsTer?)
14g.100883262G>ACA488181805RTL1c.1527C>T (p.Leu509=)
14g.100883262G>CCA266905490RTL1c.1527C>G (p.Leu509=)
dbSNP gnomAD v3 gnomAD v4
14g.100883262G=CA2159075027RTL1c.1527C= (p.Leu509=)
14g.100883262G>TCA488181806RTL1c.1527C>A (p.Leu509=)
14g.100883263A>CCA390995985RTL1c.1526T>G (p.Leu509Arg)
14g.100883263A>GCA390995986RTL1c.1526T>C (p.Leu509Pro)
14g.100883263A>TCA390995987RTL1c.1526T>A (p.Leu509His)
gnomAD v4
14g.100883264G>ACA390995988RTL1c.1525C>T (p.Leu509Phe)
14g.100883264G>CCA390995989RTL1c.1525C>G (p.Leu509Val)
14g.100883264G>TCA390995990RTL1c.1525C>A (p.Leu509Ile)
14g.100883265C>ACA390995991RTL1c.1524G>T (p.Trp508Cys)
14g.100883265C>GCA390995992RTL1c.1524G>C (p.Trp508Cys)
14g.100883265C>TCA390995993RTL1c.1524G>A (p.Trp508Ter)
14g.100883266C>ACA390995994RTL1c.1523G>T (p.Trp508Leu)
14g.100883266C>GCA390995995RTL1c.1523G>C (p.Trp508Ser)
14g.100883266C>TCA390995996RTL1c.1523G>A (p.Trp508Ter)
COSMIC
14g.100883267A>CCA390995999RTL1c.1522T>G (p.Trp508Gly)
14g.100883267A>GCA390995997RTL1c.1522T>C (p.Trp508Arg)
14g.100883267A>TCA390995998RTL1c.1522T>A (p.Trp508Arg)
14g.100883268G>ACA488181826RTL1c.1521C>T (p.Arg507=)
gnomAD v4
14g.100883268G>CCA266905492RTL1c.1521C>G (p.Arg507=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.100883268G=CA2159075028RTL1c.1521C= (p.Arg507=)
14g.100883268G>TCA488181831RTL1c.1521C>A (p.Arg507=)
14g.100883269C>ACA390996000RTL1c.1520G>T (p.Arg507Leu)
dbSNP
14g.100883269C=CA2159075029RTL1c.1520G= (p.Arg507=)
14g.100883269C>GCA390996001RTL1c.1520G>C (p.Arg507Pro)
14g.100883269C>TCA7347309RTL1c.1520G>A (p.Arg507His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.100883270G>ACA7347310RTL1c.1519C>T (p.Arg507Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.100883270G>CCA390996002RTL1c.1519C>G (p.Arg507Gly)
dbSNP
14g.100883270G=CA2159075030RTL1c.1519C= (p.Arg507=)
14g.100883270G>TCA390996003RTL1c.1519C>A (p.Arg507Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.100883270_100883272delCA2802833486RTL1c.1517_1519del (p.Ile506_Arg507delinsSer)
14g.100883271G>ACA488181842RTL1c.1518C>T (p.Ile506=)
14g.100883271G>CCA390996004RTL1c.1518C>G (p.Ile506Met)
14g.100883271G>TCA488181840RTL1c.1518C>A (p.Ile506=)
gnomAD v4
14g.100883272A=CA2159075035RTL1c.1517T= (p.Ile506=)
14g.100883272A>CCA390996005RTL1c.1517T>G (p.Ile506Ser)
14g.100883272A>GCA390996006RTL1c.1517T>C (p.Ile506Thr)
dbSNP gnomAD v3 gnomAD v4
14g.100883272A>TCA390996007RTL1c.1517T>A (p.Ile506Asn)
dbSNP gnomAD v2 gnomAD v4
14g.100883273T>ACA390996010RTL1c.1516A>T (p.Ile506Phe)
14g.100883273T>CCA390996009RTL1c.1516A>G (p.Ile506Val)
14g.100883273T>GCA390996008RTL1c.1516A>C (p.Ile506Leu)
14g.100883274G>ACA266905501RTL1c.1515C>T (p.Gly505=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.100883274G>CCA488181848RTL1c.1515C>G (p.Gly505=)
14g.100883274G=CA2159075036RTL1c.1515C= (p.Gly505=)
14g.100883274G>TCA488181854RTL1c.1515C>A (p.Gly505=)
14g.100883275C>ACA390996011RTL1c.1514G>T (p.Gly505Val)
14g.100883275C>GCA390996012RTL1c.1514G>C (p.Gly505Ala)
14g.100883275C>TCA390996013RTL1c.1514G>A (p.Gly505Asp)
14g.100883275_100883276insTCTTCA2802833487RTL1c.1513_1514insAAGA (p.Gly505GlufsTer?)
14g.100883276C>ACA390996014RTL1c.1513G>T (p.Gly505Cys)
14g.100883276C>GCA390996015RTL1c.1513G>C (p.Gly505Arg)
14g.100883276C>TCA390996016RTL1c.1513G>A (p.Gly505Ser)
gnomAD v4
14g.100883277T>ACA488181860RTL1c.1512A>T (p.Leu504=)
14g.100883277T>CCA488181858RTL1c.1512A>G (p.Leu504=)
14g.100883277T>GCA488181859RTL1c.1512A>C (p.Leu504=)
14g.100883278A=CA2159075037RTL1c.1511T= (p.Leu504=)
14g.100883278A>CCA390996017RTL1c.1511T>G (p.Leu504Arg)
14g.100883278A>GCA266905522RTL1c.1511T>C (p.Leu504Pro)
dbSNP COSMIC
14g.100883278A>TCA390996018RTL1c.1511T>A (p.Leu504Gln)
gnomAD v4
14g.100883279G>ACA488181861RTL1c.1510C>T (p.Leu504=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.100883279G>CCA390996019RTL1c.1510C>G (p.Leu504Val)
14g.100883279G=CA2159075038RTL1c.1510C= (p.Leu504=)
14g.100883279G>TCA390996020RTL1c.1510C>A (p.Leu504Ile)
14g.100883279_100883292delCA2802833488RTL1c.1497_1510del (p.Phe500ArgfsTer?)
14g.100883280G>ACA488181862RTL1c.1509C>T (p.Val503=)
dbSNP gnomAD v4
14g.100883280G>CCA488181863RTL1c.1509C>G (p.Val503=)
dbSNP gnomAD v2 gnomAD v4
14g.100883280G=CA2159075042RTL1c.1509C= (p.Val503=)
14g.100883280G>TCA488181864RTL1c.1509C>A (p.Val503=)
14g.100883281A>CCA390996023RTL1c.1508T>G (p.Val503Gly)
14g.100883281A>GCA390996022RTL1c.1508T>C (p.Val503Ala)
14g.100883281A>TCA390996021RTL1c.1508T>A (p.Val503Asp)
14g.100883282C>ACA390996024RTL1c.1507G>T (p.Val503Phe)
14g.100883282C=CA2159075044RTL1c.1507G= (p.Val503=)
14g.100883282C>GCA390996025RTL1c.1507G>C (p.Val503Leu)
14g.100883282C>TCA266905533RTL1c.1507G>A (p.Val503Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.100883283C>ACA488181872RTL1c.1506G>T (p.Val502=)
14g.100883283C>GCA488181874RTL1c.1506G>C (p.Val502=)
14g.100883283C>TCA488181875RTL1c.1506G>A (p.Val502=)
14g.100883284A>CCA390996026RTL1c.1505T>G (p.Val502Gly)
14g.100883284A>GCA390996027RTL1c.1505T>C (p.Val502Ala)
gnomAD v4
14g.100883284A>TCA390996028RTL1c.1505T>A (p.Val502Glu)
14g.100883285C>ACA390996029RTL1c.1504G>T (p.Val502Leu)
14g.100883285C=CA2159075045RTL1c.1504G= (p.Val502=)
14g.100883285C>GCA390996030RTL1c.1504G>C (p.Val502Leu)
14g.100883285C>TCA390996031RTL1c.1504G>A (p.Val502Met)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.100883286A>CCA488181880RTL1c.1503T>G (p.Ser501=)
14g.100883286A>GCA488181881RTL1c.1503T>C (p.Ser501=)
14g.100883286A>TCA488181882RTL1c.1503T>A (p.Ser501=)
14g.100883287G>ACA390996032RTL1c.1502C>T (p.Ser501Phe)
14g.100883287G>CCA390996033RTL1c.1502C>G (p.Ser501Cys)
14g.100883287G>TCA390996034RTL1c.1502C>A (p.Ser501Tyr)
14g.100883288A>CCA390996037RTL1c.1501T>G (p.Ser501Ala)
14g.100883288A>GCA390996036RTL1c.1501T>C (p.Ser501Pro)
14g.100883288A>TCA390996035RTL1c.1501T>A (p.Ser501Thr)
14g.100883289G>ACA488181887RTL1c.1500C>T (p.Phe500=)
14g.100883289G>CCA390996038RTL1c.1500C>G (p.Phe500Leu)
14g.100883289G>TCA390996039RTL1c.1500C>A (p.Phe500Leu)
14g.100883290A>CCA390996040RTL1c.1499T>G (p.Phe500Cys)
14g.100883290A>GCA390996041RTL1c.1499T>C (p.Phe500Ser)
14g.100883290A>TCA390996042RTL1c.1499T>A (p.Phe500Tyr)
14g.100883290_100883291insCCAAACACACCCAACACCA2802833489RTL1c.1498_1499insGTGTTGGGTGTGTTTGG (p.Phe500CysfsTer11)
14g.100883291A>CCA390996043RTL1c.1498T>G (p.Phe500Val)
14g.100883291A>GCA390996044RTL1c.1498T>C (p.Phe500Leu)
gnomAD v4
14g.100883291A>TCA390996045RTL1c.1498T>A (p.Phe500Ile)
14g.100883292G>ACA488181891RTL1c.1497C>T (p.Asn499=)
gnomAD v4
14g.100883292G>CCA390996046RTL1c.1497C>G (p.Asn499Lys)
14g.100883292G>TCA390996047RTL1c.1497C>A (p.Asn499Lys)
14g.100883293T>ACA390996048RTL1c.1496A>T (p.Asn499Ile)
14g.100883293T>CCA390996049RTL1c.1496A>G (p.Asn499Ser)
dbSNP gnomAD v2
14g.100883293T>GCA390996050RTL1c.1496A>C (p.Asn499Thr)
gnomAD v4
14g.100883293T=CA2159075047RTL1c.1496A= (p.Asn499=)
14g.100883294T>ACA390996053RTL1c.1495A>T (p.Asn499Tyr)
gnomAD v4
14g.100883294T>CCA390996052RTL1c.1495A>G (p.Asn499Asp)
14g.100883294T>GCA390996051RTL1c.1495A>C (p.Asn499His)
14g.100883294_100883299delCA2802833490RTL1c.1490_1495del (p.Ser497_Asn499delinsTyr)
14g.100883295C>ACA488181893RTL1c.1494G>T (p.Pro498=)
14g.100883295C=CA2159075048RTL1c.1494G= (p.Pro498=)
14g.100883295C>GCA488181894RTL1c.1494G>C (p.Pro498=)
14g.100883295C>TCA7347311RTL1c.1494G>A (p.Pro498=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.100883296G>ACA390996054RTL1c.1493C>T (p.Pro498Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.100883296G>CCA390996055RTL1c.1493C>G (p.Pro498Arg)
14g.100883296G=CA2159075049RTL1c.1493C= (p.Pro498=)
14g.100883296G>TCA390996056RTL1c.1493C>A (p.Pro498Gln)
14g.100883297G>ACA390996057RTL1c.1492C>T (p.Pro498Ser)
COSMIC
14g.100883297G>CCA390996058RTL1c.1492C>G (p.Pro498Ala)
14g.100883297G=CA2159075050RTL1c.1492C= (p.Pro498=)
14g.100883297G>TCA390996059RTL1c.1492C>A (p.Pro498Thr)
dbSNP
14g.100883298T>ACA488181900RTL1c.1491A>T (p.Ser497=)
14g.100883298T>CCA488181903RTL1c.1491A>G (p.Ser497=)
14g.100883298T>GCA488181902RTL1c.1491A>C (p.Ser497=)
14g.100883299G>ACA390996060RTL1c.1490C>T (p.Ser497Leu)
14g.100883299G>CCA390996061RTL1c.1490C>G (p.Ser497Ter)
14g.100883299G>TCA390996062RTL1c.1490C>A (p.Ser497Ter)
14g.100883300A=CA2159075051RTL1c.1489T= (p.Ser497=)
14g.100883300A>CCA390996063RTL1c.1489T>G (p.Ser497Ala)
14g.100883300A>GCA266905542RTL1c.1489T>C (p.Ser497Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.100883300A>TCA390996064RTL1c.1489T>A (p.Ser497Thr)
14g.100883301A>CCA488181905RTL1c.1488T>G (p.Pro496=)
gnomAD v4
14g.100883301A>GCA488181907RTL1c.1488T>C (p.Pro496=)
14g.100883301A>TCA488181908RTL1c.1488T>A (p.Pro496=)
14g.100883302G>ACA390996066RTL1c.1487C>T (p.Pro496Leu)
gnomAD v4
14g.100883302G>CCA390996067RTL1c.1487C>G (p.Pro496Arg)
14g.100883302G>TCA390996065RTL1c.1487C>A (p.Pro496His)
14g.100883303G>ACA390996068RTL1c.1486C>T (p.Pro496Ser)
14g.100883303G>CCA390996069RTL1c.1486C>G (p.Pro496Ala)
14g.100883303G>TCA390996070RTL1c.1486C>A (p.Pro496Thr)
14g.100883304T>ACA488181910RTL1c.1485A>T (p.Val495=)
14g.100883304T>CCA266905553RTL1c.1485A>G (p.Val495=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.100883304T>GCA488181913RTL1c.1485A>C (p.Val495=)
14g.100883304T=CA2159075052RTL1c.1485A= (p.Val495=)
14g.100883305A>CCA390996071RTL1c.1484T>G (p.Val495Gly)
14g.100883305A>GCA390996072RTL1c.1484T>C (p.Val495Ala)
14g.100883305A>TCA390996073RTL1c.1484T>A (p.Val495Glu)
14g.100883306C>ACA390996074RTL1c.1483G>T (p.Val495Leu)
gnomAD v4
14g.100883306C=CA2159075053RTL1c.1483G= (p.Val495=)
14g.100883306C>GCA390996075RTL1c.1483G>C (p.Val495Leu)
14g.100883306C>TCA390996076RTL1c.1483G>A (p.Val495Ile)
dbSNP gnomAD v3 gnomAD v4 COSMIC
14g.100883307G>ACA7347312RTL1c.1482C>T (p.Ile494=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.100883307G>CCA390996077RTL1c.1482C>G (p.Ile494Met)
14g.100883307G=CA2159075054RTL1c.1482C= (p.Ile494=)
14g.100883307G>TCA488181920RTL1c.1482C>A (p.Ile494=)
14g.100883308A>CCA390996080RTL1c.1481T>G (p.Ile494Ser)
14g.100883308A>GCA390996078RTL1c.1481T>C (p.Ile494Thr)
14g.100883308A>TCA390996079RTL1c.1481T>A (p.Ile494Asn)
14g.100883309T>ACA390996081RTL1c.1480A>T (p.Ile494Phe)
14g.100883309T>CCA390996082RTL1c.1480A>G (p.Ile494Val)
dbSNP gnomAD v2 gnomAD v4
14g.100883309T>GCA390996083RTL1c.1480A>C (p.Ile494Leu)
14g.100883309T=CA2159075055RTL1c.1480A= (p.Ile494=)
14g.100883310G>ACA488181923RTL1c.1479C>T (p.Asp493=)
14g.100883310G>CCA390996084RTL1c.1479C>G (p.Asp493Glu)
14g.100883310G>TCA390996085RTL1c.1479C>A (p.Asp493Glu)
14g.100883311T>ACA390996086RTL1c.1478A>T (p.Asp493Val)
gnomAD v4
14g.100883311T>CCA390996087RTL1c.1478A>G (p.Asp493Gly)
14g.100883311T>GCA390996088RTL1c.1478A>C (p.Asp493Ala)
14g.100883312C>ACA390996089RTL1c.1477G>T (p.Asp493Tyr)
14g.100883312C>GCA390996090RTL1c.1477G>C (p.Asp493His)
14g.100883312C>TCA390996091RTL1c.1477G>A (p.Asp493Asn)
14g.100883313A>CCA390996093RTL1c.1476T>G (p.Phe492Leu)
14g.100883313A>GCA488181931RTL1c.1476T>C (p.Phe492=)
14g.100883313A>TCA390996092RTL1c.1476T>A (p.Phe492Leu)
14g.100883314A>CCA390996094RTL1c.1475T>G (p.Phe492Cys)
14g.100883314A>GCA390996096RTL1c.1475T>C (p.Phe492Ser)
14g.100883314A>TCA390996095RTL1c.1475T>A (p.Phe492Tyr)
COSMIC
14g.100883315A>CCA390996097RTL1c.1474T>G (p.Phe492Val)
14g.100883315A>GCA390996098RTL1c.1474T>C (p.Phe492Leu)
14g.100883315A>TCA390996099RTL1c.1474T>A (p.Phe492Ile)
14g.100883316T>ACA390996100RTL1c.1473A>T (p.Glu491Asp)
14g.100883316T>CCA488181934RTL1c.1473A>G (p.Glu491=)
14g.100883316T>GCA390996101RTL1c.1473A>C (p.Glu491Asp)
14g.100883317T>ACA390996102RTL1c.1472A>T (p.Glu491Val)
14g.100883317T>CCA390996103RTL1c.1472A>G (p.Glu491Gly)
14g.100883317T>GCA390996104RTL1c.1472A>C (p.Glu491Ala)
14g.100883318C>ACA390996105RTL1c.1471G>T (p.Glu491Ter)
14g.100883318C=CA2159075056RTL1c.1471G= (p.Glu491=)
14g.100883318C>GCA390996106RTL1c.1471G>C (p.Glu491Gln)
14g.100883318C>TCA266905568RTL1c.1471G>A (p.Glu491Lys)
dbSNP gnomAD v3 gnomAD v4
14g.100883319G>ACA266905573RTL1c.1470C>T (p.Ile490=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.100883319G>CCA390996107RTL1c.1470C>G (p.Ile490Met)
14g.100883319G=CA2159075057RTL1c.1470C= (p.Ile490=)
14g.100883319G>TCA488181937RTL1c.1470C>A (p.Ile490=)
dbSNP gnomAD v2 gnomAD v4
14g.100883320A>CCA390996110RTL1c.1469T>G (p.Ile490Ser)
14g.100883320A>GCA390996108RTL1c.1469T>C (p.Ile490Thr)
14g.100883320A>TCA390996109RTL1c.1469T>A (p.Ile490Asn)
14g.100883321T>ACA390996111RTL1c.1468A>T (p.Ile490Phe)
14g.100883321T>CCA390996112RTL1c.1468A>G (p.Ile490Val)
dbSNP gnomAD v4
14g.100883321T>GCA390996113RTL1c.1468A>C (p.Ile490Leu)
14g.100883321T=CA2159075058RTL1c.1468A= (p.Ile490=)
14g.100883322G>ACA488181944RTL1c.1467C>T (p.Ser489=)
14g.100883322G>CCA488181946RTL1c.1467C>G (p.Ser489=)
dbSNP gnomAD v3 gnomAD v4
14g.100883322G>TCA488181948RTL1c.1467C>A (p.Ser489=)
14g.100883323G>ACA390996114RTL1c.1466C>T (p.Ser489Phe)
gnomAD v4
14g.100883323G>CCA390996115RTL1c.1466C>G (p.Ser489Cys)
14g.100883323G>TCA390996116RTL1c.1466C>A (p.Ser489Tyr)
14g.100883324A>CCA390996117RTL1c.1465T>G (p.Ser489Ala)
gnomAD v4
14g.100883324A>GCA390996118RTL1c.1465T>C (p.Ser489Pro)
gnomAD v4
14g.100883324A>TCA390996119RTL1c.1465T>A (p.Ser489Thr)
14g.100883325C>ACA390996120RTL1c.1464G>T (p.Glu488Asp)
14g.100883325C=CA2159075059RTL1c.1464G= (p.Glu488=)
14g.100883325C>GCA390996121RTL1c.1464G>C (p.Glu488Asp)
14g.100883325C>TCA488181955RTL1c.1464G>A (p.Glu488=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.100883326T>ACA390996124RTL1c.1463A>T (p.Glu488Val)
14g.100883326T>CCA390996123RTL1c.1463A>G (p.Glu488Gly)
14g.100883326T>GCA390996122RTL1c.1463A>C (p.Glu488Ala)
14g.100883327C>ACA390996127RTL1c.1462G>T (p.Glu488Ter)
14g.100883327C>GCA390996125RTL1c.1462G>C (p.Glu488Gln)
14g.100883327C>TCA390996126RTL1c.1462G>A (p.Glu488Lys)
gnomAD v4
14g.100883328C>ACA390996128RTL1c.1461G>T (p.Gln487His)
14g.100883328C=CA2159075060RTL1c.1461G= (p.Gln487=)
14g.100883328C>GCA390996129RTL1c.1461G>C (p.Gln487His)
14g.100883328C>TCA488181961RTL1c.1461G>A (p.Gln487=)
dbSNP gnomAD v3 gnomAD v4
14g.100883329T>ACA390996130RTL1c.1460A>T (p.Gln487Leu)
14g.100883329T>CCA390996131RTL1c.1460A>G (p.Gln487Arg)
14g.100883329T>GCA390996132RTL1c.1460A>C (p.Gln487Pro)
14g.100883330G>ACA390996133RTL1c.1459C>T (p.Gln487Ter)
14g.100883330G>CCA390996134RTL1c.1459C>G (p.Gln487Glu)
14g.100883330G>TCA390996135RTL1c.1459C>A (p.Gln487Lys)
14g.100883331G>ACA488181968RTL1c.1458C>T (p.His486=)
14g.100883331G>CCA390996136RTL1c.1458C>G (p.His486Gln)
14g.100883331G>TCA390996137RTL1c.1458C>A (p.His486Gln)
14g.100883332T>ACA390996140RTL1c.1457A>T (p.His486Leu)
14g.100883332T>CCA390996139RTL1c.1457A>G (p.His486Arg)
14g.100883332T>GCA390996138RTL1c.1457A>C (p.His486Pro)
14g.100883333G>ACA390996141RTL1c.1456C>T (p.His486Tyr)
14g.100883333G>CCA390996142RTL1c.1456C>G (p.His486Asp)
14g.100883333G>TCA390996143RTL1c.1456C>A (p.His486Asn)
14g.100883334G>ACA266905587RTL1c.1455C>T (p.Asn485=)
dbSNP gnomAD v2 gnomAD v4
14g.100883334G>CCA390996144RTL1c.1455C>G (p.Asn485Lys)
14g.100883334G=CA2159075061RTL1c.1455C= (p.Asn485=)
14g.100883334G>TCA390996145RTL1c.1455C>A (p.Asn485Lys)
14g.100883335T>ACA390996146RTL1c.1454A>T (p.Asn485Ile)
14g.100883335T>CCA390996147RTL1c.1454A>G (p.Asn485Ser)
14g.100883335T>GCA390996148RTL1c.1454A>C (p.Asn485Thr)
14g.100883336T>ACA390996149RTL1c.1453A>T (p.Asn485Tyr)
14g.100883336T>CCA390996150RTL1c.1453A>G (p.Asn485Asp)
14g.100883336T>GCA390996151RTL1c.1453A>C (p.Asn485His)
14g.100883337C>ACA390996152RTL1c.1452G>T (p.Gln484His)
14g.100883337C>GCA390996153RTL1c.1452G>C (p.Gln484His)
14g.100883337C>TCA488181977RTL1c.1452G>A (p.Gln484=)
gnomAD v4
14g.100883338T>ACA390996155RTL1c.1451A>T (p.Gln484Leu)
14g.100883338T>CCA390996156RTL1c.1451A>G (p.Gln484Arg)
14g.100883338T>GCA390996154RTL1c.1451A>C (p.Gln484Pro)
14g.100883339G>ACA390996157RTL1c.1450C>T (p.Gln484Ter)
14g.100883339G>CCA390996159RTL1c.1450C>G (p.Gln484Glu)
14g.100883339G>TCA390996158RTL1c.1450C>A (p.Gln484Lys)
14g.100883340G>ACA488181981RTL1c.1449C>T (p.His483=)
14g.100883340G>CCA390996160RTL1c.1449C>G (p.His483Gln)
14g.100883340G>TCA390996161RTL1c.1449C>A (p.His483Gln)
14g.100883341T>ACA390996162RTL1c.1448A>T (p.His483Leu)
14g.100883341T>CCA390996163RTL1c.1448A>G (p.His483Arg)
14g.100883341T>GCA390996164RTL1c.1448A>C (p.His483Pro)
14g.100883342G>ACA390996165RTL1c.1447C>T (p.His483Tyr)
ClinVar dbSNP gnomAD v4
14g.100883342G>CCA390996166RTL1c.1447C>G (p.His483Asp)
14g.100883342G=CA2159075062RTL1c.1447C= (p.His483=)
14g.100883342G>TCA390996167RTL1c.1447C>A (p.His483Asn)
14g.100883343G>ACA488181987RTL1c.1446C>T (p.Ile482=)
gnomAD v4
14g.100883343G>CCA390996168RTL1c.1446C>G (p.Ile482Met)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.100883343G=CA2159075063RTL1c.1446C= (p.Ile482=)
14g.100883343G>TCA266905591RTL1c.1446C>A (p.Ile482=)
dbSNP gnomAD v2 gnomAD v4
14g.100883344A=CA2159075064RTL1c.1445T= (p.Ile482=)
14g.100883344A>CCA390996170RTL1c.1445T>G (p.Ile482Ser)
14g.100883344A>GCA7347313RTL1c.1445T>C (p.Ile482Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.100883344A>TCA390996169RTL1c.1445T>A (p.Ile482Asn)
14g.100883345T>ACA390996171RTL1c.1444A>T (p.Ile482Phe)
14g.100883345T>CCA390996172RTL1c.1444A>G (p.Ile482Val)
14g.100883345T>GCA390996173RTL1c.1444A>C (p.Ile482Leu)
14g.100883346A>CCA390996174RTL1c.1443T>G (p.Cys481Trp)
14g.100883346A>GCA488181990RTL1c.1443T>C (p.Cys481=)
14g.100883346A>TCA390996175RTL1c.1443T>A (p.Cys481Ter)
14g.100883350_100883351delCA2626553681RTL1c.1442_1443del (p.Cys481TyrfsTer12)
gnomAD v4
14g.100883347C>ACA390996176RTL1c.1442G>T (p.Cys481Phe)
14g.100883347C>GCA390996177RTL1c.1442G>C (p.Cys481Ser)
14g.100883347C>TCA390996178RTL1c.1442G>A (p.Cys481Tyr)
14g.100883348A>CCA390996179RTL1c.1441T>G (p.Cys481Gly)
14g.100883348A>GCA390996180RTL1c.1441T>C (p.Cys481Arg)
gnomAD v4
14g.100883348A>TCA390996181RTL1c.1441T>A (p.Cys481Ser)
14g.100883349C>ACA488181992RTL1c.1440G>T (p.Val480=)
dbSNP gnomAD v2 gnomAD v4
14g.100883349C=CA2159075065RTL1c.1440G= (p.Val480=)
14g.100883349C>GCA488181993RTL1c.1440G>C (p.Val480=)
14g.100883349C>TCA488181994RTL1c.1440G>A (p.Val480=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.100883350A>CCA390996183RTL1c.1439T>G (p.Val480Gly)
14g.100883350A>GCA390996184RTL1c.1439T>C (p.Val480Ala)
14g.100883350A>TCA390996182RTL1c.1439T>A (p.Val480Glu)
14g.100883351C>ACA390996185RTL1c.1438G>T (p.Val480Leu)
14g.100883351C=CA2159075066RTL1c.1438G= (p.Val480=)
14g.100883351C>GCA390996186RTL1c.1438G>C (p.Val480Leu)
14g.100883351C>TCA390996187RTL1c.1438G>A (p.Val480Met)
dbSNP gnomAD v3 gnomAD v4
14g.100883352C>ACA488182000RTL1c.1437G>T (p.Leu479=)
14g.100883352C=CA2159075067RTL1c.1437G= (p.Leu479=)
14g.100883352C>GCA488182002RTL1c.1437G>C (p.Leu479=)
14g.100883352C>TCA488182001RTL1c.1437G>A (p.Leu479=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.100883353A>CCA390996188RTL1c.1436T>G (p.Leu479Arg)
14g.100883353A>GCA390996189RTL1c.1436T>C (p.Leu479Pro)
gnomAD v4
14g.100883353A>TCA390996190RTL1c.1436T>A (p.Leu479Gln)
14g.100883354G>ACA488182004RTL1c.1435C>T (p.Leu479=)
14g.100883354G>CCA390996192RTL1c.1435C>G (p.Leu479Val)
14g.100883354G>TCA390996191RTL1c.1435C>A (p.Leu479Met)
14g.100883355G>ACA488181301RTL1c.1434C>T (p.Pro478=)
gnomAD v4
14g.100883355G>CCA488181302RTL1c.1434C>G (p.Pro478=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.100883355G=CA2159075068RTL1c.1434C= (p.Pro478=)
14g.100883355G>TCA488181303RTL1c.1434C>A (p.Pro478=)

Number of alleles fetched