Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154961136_154961137delinsATCA2466846498F8c.1475_1476delinsAT (p.Tyr492=)
c.*1351_*1352delinsAT (n.*1351_*1352delinsAT)
c.1370_1371delinsAT (p.Tyr457=)
Xg.154961137delCA2466846499F8c.1475del (p.Tyr492LeufsTer23)
c.*1351del (n.*1351del)
c.1370del (p.Tyr457LeufsTer23)
dbSNP
Xg.154961137T>ACA414912815F8c.1475A>T (p.Tyr492Phe)
c.*1351A>T (n.*1351A>T)
c.1370A>T (p.Tyr457Phe)
Xg.154961137T>CCA337334224F8c.1475A>G (p.Tyr492Cys)
c.*1351A>G (n.*1351A>G)
c.1370A>G (p.Tyr457Cys)
ClinVar dbSNP
Xg.154961137T>GCA414912813F8c.1475A>C (p.Tyr492Ser)
c.*1351A>C (n.*1351A>C)
c.1370A>C (p.Tyr457Ser)
Xg.154961137T=CA2466846500F8c.1475A= (p.Tyr492=)
c.*1351A= (n.*1351A=)
c.1370A= (p.Tyr457=)
Xg.154961138A=CA2466846501F8c.1474T= (p.Tyr492=)
c.*1350T= (n.*1350T=)
c.1369T= (p.Tyr457=)
Xg.154961138A>CCA414912817F8c.1474T>G (p.Tyr492Asp)
c.*1350T>G (n.*1350T>G)
c.1369T>G (p.Tyr457Asp)
Xg.154961138A>GCA337334229F8c.1474T>C (p.Tyr492His)
c.*1350T>C (n.*1350T>C)
c.1369T>C (p.Tyr457His)
dbSNP
Xg.154961138A>TCA414912819F8c.1474T>A (p.Tyr492Asn)
c.*1350T>A (n.*1350T>A)
c.1369T>A (p.Tyr457Asn)
Xg.154961139T>ACA519361124F8c.1473A>T (p.Pro491=)
c.*1349A>T (n.*1349A>T)
c.1368A>T (p.Pro456=)
Xg.154961139T>CCA519361120F8c.1473A>G (p.Pro491=)
c.*1349A>G (n.*1349A>G)
c.1368A>G (p.Pro456=)
Xg.154961139T>GCA519361122F8c.1473A>C (p.Pro491=)
c.*1349A>C (n.*1349A>C)
c.1368A>C (p.Pro456=)
Xg.154961139T=CA2466846502F8c.1473A= (p.Pro491=)
c.*1349A= (n.*1349A=)
c.1368A= (p.Pro456=)
Xg.154961140G>ACA414912821F8c.1472C>T (p.Pro491Leu)
c.*1348C>T (n.*1348C>T)
c.1367C>T (p.Pro456Leu)
gnomAD v4
Xg.154961140G>CCA414912824F8c.1472C>G (p.Pro491Arg)
c.*1348C>G (n.*1348C>G)
c.1367C>G (p.Pro456Arg)
Xg.154961140G>TCA414912823F8c.1472C>A (p.Pro491Gln)
c.*1348C>A (n.*1348C>A)
c.1367C>A (p.Pro456Gln)
gnomAD v4
Xg.154961140_154961145dupCA1139667915F8c.1467_1472dup (p.Pro491_Tyr492insArgPro)
c.*1343_*1348dup (n.*1343_*1348dup)
c.1362_1367dup (p.Pro456_Tyr457insArgPro)
ClinVar dbSNP
Xg.154961141G>ACA337334243F8c.1471C>T (p.Pro491Ser)
c.*1347C>T (n.*1347C>T)
c.1366C>T (p.Pro456Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154961141G>CCA414912827F8c.1471C>G (p.Pro491Ala)
c.*1347C>G (n.*1347C>G)
c.1366C>G (p.Pro456Ala)
Xg.154961141G=CA2466846503F8c.1471C= (p.Pro491=)
c.*1347C= (n.*1347C=)
c.1366C= (p.Pro456=)
Xg.154961141G>TCA414912828F8c.1471C>A (p.Pro491Thr)
c.*1347C>A (n.*1347C>A)
c.1366C>A (p.Pro456Thr)
gnomAD v4
Xg.154961142T>ACA414912830F8c.1470A>T (p.Arg490Ser)
c.*1346A>T (n.*1346A>T)
c.1365A>T (p.Arg455Ser)
Xg.154961142T>CCA519361166F8c.1470A>G (p.Arg490=)
c.*1346A>G (n.*1346A>G)
c.1365A>G (p.Arg455=)
gnomAD v4
Xg.154961142T>GCA414912832F8c.1470A>C (p.Arg490Ser)
c.*1346A>C (n.*1346A>C)
c.1365A>C (p.Arg455Ser)
Xg.154961143C>ACA414912834F8c.1469G>T (p.Arg490Ile)
c.*1345G>T (n.*1345G>T)
c.1364G>T (p.Arg455Ile)
Xg.154961143C>GCA414912836F8c.1469G>C (p.Arg490Thr)
c.*1345G>C (n.*1345G>C)
c.1364G>C (p.Arg455Thr)
Xg.154961143C>TCA414912837F8c.1469G>A (p.Arg490Lys)
c.*1345G>A (n.*1345G>A)
c.1364G>A (p.Arg455Lys)
Xg.154961144T>ACA414912840F8c.1468A>T (p.Arg490Ter)
c.*1344A>T (n.*1344A>T)
c.1363A>T (p.Arg455Ter)
Xg.154961144T>CCA414912841F8c.1468A>G (p.Arg490Gly)
c.*1344A>G (n.*1344A>G)
c.1363A>G (p.Arg455Gly)
ClinVar dbSNP
Xg.154961144T>GCA519361193F8c.1468A>C (p.Arg490=)
c.*1344A>C (n.*1344A>C)
c.1363A>C (p.Arg455=)
Xg.154961144T=CA2466846504F8c.1468A= (p.Arg490=)
c.*1344A= (n.*1344A=)
c.1363A= (p.Arg455=)
Xg.154961145G>ACA10568451F8c.1467C>T (p.Ser489=)
c.*1343C>T (n.*1343C>T)
c.1362C>T (p.Ser454=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154961145G>CCA414912843F8c.1467C>G (p.Ser489Arg)
c.*1343C>G (n.*1343C>G)
c.1362C>G (p.Ser454Arg)
Xg.154961145G=CA2466846505F8c.1467C= (p.Ser489=)
c.*1343C= (n.*1343C=)
c.1362C= (p.Ser454=)
Xg.154961145G>TCA414912845F8c.1467C>A (p.Ser489Arg)
c.*1343C>A (n.*1343C>A)
c.1362C>A (p.Ser454Arg)
gnomAD v4
Xg.154961146C>ACA414912849F8c.1466G>T (p.Ser489Ile)
c.*1342G>T (n.*1342G>T)
c.1361G>T (p.Ser454Ile)
Xg.154961146C=CA2466846506F8c.1466G= (p.Ser489=)
c.*1342G= (n.*1342G=)
c.1361G= (p.Ser454=)
Xg.154961146C>GCA414912851F8c.1466G>C (p.Ser489Thr)
c.*1342G>C (n.*1342G>C)
c.1361G>C (p.Ser454Thr)
Xg.154961146C>TCA337334263F8c.1466G>A (p.Ser489Asn)
c.*1342G>A (n.*1342G>A)
c.1361G>A (p.Ser454Asn)
dbSNP gnomAD v2 gnomAD v4
Xg.154961147T>ACA414912853F8c.1465A>T (p.Ser489Cys)
c.*1341A>T (n.*1341A>T)
c.1360A>T (p.Ser454Cys)
Xg.154961147T>CCA414912855F8c.1465A>G (p.Ser489Gly)
c.*1341A>G (n.*1341A>G)
c.1360A>G (p.Ser454Gly)
Xg.154961147T>GCA414912857F8c.1465A>C (p.Ser489Arg)
c.*1341A>C (n.*1341A>C)
c.1360A>C (p.Ser454Arg)
Xg.154961148T>ACA519361214F8c.1464A>T (p.Ala488=)
c.*1340A>T (n.*1340A>T)
c.1359A>T (p.Ala453=)
Xg.154961148T>CCA519361216F8c.1464A>G (p.Ala488=)
c.*1340A>G (n.*1340A>G)
c.1359A>G (p.Ala453=)
Xg.154961148T>GCA519361217F8c.1464A>C (p.Ala488=)
c.*1340A>C (n.*1340A>C)
c.1359A>C (p.Ala453=)
Xg.154961149G>ACA414912858F8c.1463C>T (p.Ala488Val)
c.*1339C>T (n.*1339C>T)
c.1358C>T (p.Ala453Val)
dbSNP
Xg.154961149G>CCA10568452F8c.1463C>G (p.Ala488Gly)
c.*1339C>G (n.*1339C>G)
c.1358C>G (p.Ala453Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154961149G=CA2466846507F8c.1463C= (p.Ala488=)
c.*1339C= (n.*1339C=)
c.1358C= (p.Ala453=)
Xg.154961149G>TCA414912860F8c.1463C>A (p.Ala488Glu)
c.*1339C>A (n.*1339C>A)
c.1358C>A (p.Ala453Glu)
COSMIC COSMIC

Number of alleles fetched