Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.77942077A=CA1148224378NEXNc.1528A= (p.Lys510=)
c.1336A= (p.Lys446=)
c.1227A=
n.367A=
n.1102A=
c.1486A= (p.Lys496=)
c.1306A= (p.Lys436=)
c.1294A= (p.Lys432=)
c.1111A= (p.Lys371=)
1g.77942077A>CCA340880893NEXNc.1528A>C (p.Lys510Gln)
c.1336A>C (p.Lys446Gln)
c.1227A>C
n.367A>C
n.1102A>C
c.1486A>C (p.Lys496Gln)
c.1306A>C (p.Lys436Gln)
c.1294A>C (p.Lys432Gln)
c.1111A>C (p.Lys371Gln)
1g.77942077A>GCA184102NEXNc.1528A>G (p.Lys510Glu)
c.1336A>G (p.Lys446Glu)
c.1227A>G
n.367A>G
n.1102A>G
c.1486A>G (p.Lys496Glu)
c.1306A>G (p.Lys436Glu)
c.1294A>G (p.Lys432Glu)
c.1111A>G (p.Lys371Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.77942077A>TCA340880897NEXNc.1528A>T (p.Lys510Ter)
c.1336A>T (p.Lys446Ter)
c.1227A>T
n.367A>T
n.1102A>T
c.1486A>T (p.Lys496Ter)
c.1306A>T (p.Lys436Ter)
c.1294A>T (p.Lys432Ter)
c.1111A>T (p.Lys371Ter)
dbSNP
1g.77942078A=CA1177631143NEXNc.1529A= (p.Lys510=)
c.1337A= (p.Lys446=)
c.1228A=
n.368A=
n.1103A=
c.1487A= (p.Lys496=)
c.1307A= (p.Lys436=)
c.1295A= (p.Lys432=)
c.1112A= (p.Lys371=)
1g.77942078A>CCA340880898NEXNc.1529A>C (p.Lys510Thr)
c.1337A>C (p.Lys446Thr)
c.1228A>C
n.368A>C
n.1103A>C
c.1487A>C (p.Lys496Thr)
c.1307A>C (p.Lys436Thr)
c.1295A>C (p.Lys432Thr)
c.1112A>C (p.Lys371Thr)
1g.77942078A>GCA918920NEXNc.1529A>G (p.Lys510Arg)
c.1337A>G (p.Lys446Arg)
c.1228A>G
n.368A>G
n.1103A>G
c.1487A>G (p.Lys496Arg)
c.1307A>G (p.Lys436Arg)
c.1295A>G (p.Lys432Arg)
c.1112A>G (p.Lys371Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77942078A>TCA340880902NEXNc.1529A>T (p.Lys510Ile)
c.1337A>T (p.Lys446Ile)
c.1228A>T
n.368A>T
n.1103A>T
c.1487A>T (p.Lys496Ile)
c.1307A>T (p.Lys436Ile)
c.1295A>T (p.Lys432Ile)
c.1112A>T (p.Lys371Ile)
1g.77942079A>CCA340880904NEXNc.1530A>C (p.Lys510Asn)
c.1338A>C (p.Lys446Asn)
c.1229A>C
n.369A>C
n.1104A>C
c.1488A>C (p.Lys496Asn)
c.1308A>C (p.Lys436Asn)
c.1296A>C (p.Lys432Asn)
c.1113A>C (p.Lys371Asn)
1g.77942079A>GCA418573158NEXNc.1530A>G (p.Lys510=)
c.1338A>G (p.Lys446=)
c.1229A>G
n.369A>G
n.1104A>G
c.1488A>G (p.Lys496=)
c.1308A>G (p.Lys436=)
c.1296A>G (p.Lys432=)
c.1113A>G (p.Lys371=)
1g.77942079A>TCA340880910NEXNc.1530A>T (p.Lys510Asn)
c.1338A>T (p.Lys446Asn)
c.1229A>T
n.369A>T
n.1104A>T
c.1488A>T (p.Lys496Asn)
c.1308A>T (p.Lys436Asn)
c.1296A>T (p.Lys432Asn)
c.1113A>T (p.Lys371Asn)
1g.77942079_77942080delCA2499780740NEXNc.1530_1531del (p.Lys510AsnfsTer6)
c.1338_1339del (p.Lys446AsnfsTer6)
c.1229_1230del
n.369_370del
n.1104_1105del
c.1488_1489del (p.Lys496AsnfsTer6)
c.1308_1309del (p.Lys436AsnfsTer6)
c.1296_1297del (p.Lys432AsnfsTer6)
c.1113_1114del (p.Lys371AsnfsTer6)
1g.77942080G>ACA340880912NEXNc.1531G>A (p.Val511Met)
c.1339G>A (p.Val447Met)
c.1230G>A
n.370G>A
n.1105G>A
c.1489G>A (p.Val497Met)
c.1309G>A (p.Val437Met)
c.1297G>A (p.Val433Met)
c.1114G>A (p.Val372Met)
1g.77942080G>CCA340880913NEXNc.1531G>C (p.Val511Leu)
c.1339G>C (p.Val447Leu)
c.1230G>C
n.370G>C
n.1105G>C
c.1489G>C (p.Val497Leu)
c.1309G>C (p.Val437Leu)
c.1297G>C (p.Val433Leu)
c.1114G>C (p.Val372Leu)
1g.77942080G>TCA340880914NEXNc.1531G>T (p.Val511Leu)
c.1339G>T (p.Val447Leu)
c.1230G>T
n.370G>T
n.1105G>T
c.1489G>T (p.Val497Leu)
c.1309G>T (p.Val437Leu)
c.1297G>T (p.Val433Leu)
c.1114G>T (p.Val372Leu)
1g.77942081_77942082delCA2574166254NEXNc.1532_1533del (p.Val511GlufsTer5)
c.1340_1341del (p.Val447GlufsTer5)
c.1231_1232del
n.371_372del
n.1106_1107del
c.1490_1491del (p.Val497GlufsTer5)
c.1310_1311del (p.Val437GlufsTer5)
c.1298_1299del (p.Val433GlufsTer5)
c.1115_1116del (p.Val372GlufsTer5)
1g.77942081T>ACA340880918NEXNc.1532T>A (p.Val511Glu)
c.1340T>A (p.Val447Glu)
c.1231T>A
n.371T>A
n.1106T>A
c.1490T>A (p.Val497Glu)
c.1310T>A (p.Val437Glu)
c.1298T>A (p.Val433Glu)
c.1115T>A (p.Val372Glu)
1g.77942081T>CCA24691045NEXNc.1532T>C (p.Val511Ala)
c.1340T>C (p.Val447Ala)
c.1231T>C
n.371T>C
n.1106T>C
c.1490T>C (p.Val497Ala)
c.1310T>C (p.Val437Ala)
c.1298T>C (p.Val433Ala)
c.1115T>C (p.Val372Ala)
dbSNP gnomAD v4
1g.77942081T>GCA340880917NEXNc.1532T>G (p.Val511Gly)
c.1340T>G (p.Val447Gly)
c.1231T>G
n.371T>G
n.1106T>G
c.1490T>G (p.Val497Gly)
c.1310T>G (p.Val437Gly)
c.1298T>G (p.Val433Gly)
c.1115T>G (p.Val372Gly)
1g.77942081T=CA1177631144NEXNc.1532T= (p.Val511=)
c.1340T= (p.Val447=)
c.1231T=
n.371T=
n.1106T=
c.1490T= (p.Val497=)
c.1310T= (p.Val437=)
c.1298T= (p.Val433=)
c.1115T= (p.Val372=)
1g.77942082G>ACA918921NEXNc.1533G>A (p.Val511=)
c.1341G>A (p.Val447=)
c.1232G>A
n.372G>A
n.1107G>A
c.1491G>A (p.Val497=)
c.1311G>A (p.Val437=)
c.1299G>A (p.Val433=)
c.1116G>A (p.Val372=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.77942082G>CCA418573164NEXNc.1533G>C (p.Val511=)
c.1341G>C (p.Val447=)
c.1232G>C
n.372G>C
n.1107G>C
c.1491G>C (p.Val497=)
c.1311G>C (p.Val437=)
c.1299G>C (p.Val433=)
c.1116G>C (p.Val372=)
dbSNP gnomAD v2 gnomAD v4
1g.77942082G=CA1177631145NEXNc.1533G= (p.Val511=)
c.1341G= (p.Val447=)
c.1232G=
n.372G=
n.1107G=
c.1491G= (p.Val497=)
c.1311G= (p.Val437=)
c.1299G= (p.Val433=)
c.1116G= (p.Val372=)
1g.77942082G>TCA418573165NEXNc.1533G>T (p.Val511=)
c.1341G>T (p.Val447=)
c.1232G>T
n.372G>T
n.1107G>T
c.1491G>T (p.Val497=)
c.1311G>T (p.Val437=)
c.1299G>T (p.Val433=)
c.1116G>T (p.Val372=)
ClinVar dbSNP
1g.77942083A=CA1177631146NEXNc.1534A= (p.Asn512=)
c.1342A= (p.Asn448=)
c.1233A=
n.373A=
n.1108A=
c.1492A= (p.Asn498=)
c.1312A= (p.Asn438=)
c.1300A= (p.Asn434=)
c.1117A= (p.Asn373=)
1g.77942083A>CCA340880919NEXNc.1534A>C (p.Asn512His)
c.1342A>C (p.Asn448His)
c.1233A>C
n.373A>C
n.1108A>C
c.1492A>C (p.Asn498His)
c.1312A>C (p.Asn438His)
c.1300A>C (p.Asn434His)
c.1117A>C (p.Asn373His)
1g.77942083A>GCA340880920NEXNc.1534A>G (p.Asn512Asp)
c.1342A>G (p.Asn448Asp)
c.1233A>G
n.373A>G
n.1108A>G
c.1492A>G (p.Asn498Asp)
c.1312A>G (p.Asn438Asp)
c.1300A>G (p.Asn434Asp)
c.1117A>G (p.Asn373Asp)
dbSNP
1g.77942083A>TCA340880921NEXNc.1534A>T (p.Asn512Tyr)
c.1342A>T (p.Asn448Tyr)
c.1233A>T
n.373A>T
n.1108A>T
c.1492A>T (p.Asn498Tyr)
c.1312A>T (p.Asn438Tyr)
c.1300A>T (p.Asn434Tyr)
c.1117A>T (p.Asn373Tyr)
1g.77942084_77942086dupCA2580063252NEXNc.1535_1537dup (p.Asn512_Met513insAsn)
c.1343_1345dup (p.Asn448_Met449insAsn)
c.1234_1236dup
n.374_376dup
n.1109_1111dup
c.1493_1495dup (p.Asn498_Met499insAsn)
c.1313_1315dup (p.Asn438_Met439insAsn)
c.1301_1303dup (p.Asn434_Met435insAsn)
c.1118_1120dup (p.Asn373_Met374insAsn)
ClinVar
1g.77942084A=CA1177631147NEXNc.1535A= (p.Asn512=)
c.1343A= (p.Asn448=)
c.1234A=
n.374A=
n.1109A=
c.1493A= (p.Asn498=)
c.1313A= (p.Asn438=)
c.1301A= (p.Asn434=)
c.1118A= (p.Asn373=)
1g.77942084A>CCA340880922NEXNc.1535A>C (p.Asn512Thr)
c.1343A>C (p.Asn448Thr)
c.1234A>C
n.374A>C
n.1109A>C
c.1493A>C (p.Asn498Thr)
c.1313A>C (p.Asn438Thr)
c.1301A>C (p.Asn434Thr)
c.1118A>C (p.Asn373Thr)
1g.77942084A>GCA918922NEXNc.1535A>G (p.Asn512Ser)
c.1343A>G (p.Asn448Ser)
c.1234A>G
n.374A>G
n.1109A>G
c.1493A>G (p.Asn498Ser)
c.1313A>G (p.Asn438Ser)
c.1301A>G (p.Asn434Ser)
c.1118A>G (p.Asn373Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.77942084A>TCA340880923NEXNc.1535A>T (p.Asn512Ile)
c.1343A>T (p.Asn448Ile)
c.1234A>T
n.374A>T
n.1109A>T
c.1493A>T (p.Asn498Ile)
c.1313A>T (p.Asn438Ile)
c.1301A>T (p.Asn434Ile)
c.1118A>T (p.Asn373Ile)
1g.77942085T>ACA340880924NEXNc.1536T>A (p.Asn512Lys)
c.1344T>A (p.Asn448Lys)
c.1235T>A
n.375T>A
n.1110T>A
c.1494T>A (p.Asn498Lys)
c.1314T>A (p.Asn438Lys)
c.1302T>A (p.Asn434Lys)
c.1119T>A (p.Asn373Lys)
1g.77942085T>CCA418573168NEXNc.1536T>C (p.Asn512=)
c.1344T>C (p.Asn448=)
c.1235T>C
n.375T>C
n.1110T>C
c.1494T>C (p.Asn498=)
c.1314T>C (p.Asn438=)
c.1302T>C (p.Asn434=)
c.1119T>C (p.Asn373=)
dbSNP gnomAD v2 gnomAD v4
1g.77942085T>GCA340880925NEXNc.1536T>G (p.Asn512Lys)
c.1344T>G (p.Asn448Lys)
c.1235T>G
n.375T>G
n.1110T>G
c.1494T>G (p.Asn498Lys)
c.1314T>G (p.Asn438Lys)
c.1302T>G (p.Asn434Lys)
c.1119T>G (p.Asn373Lys)
1g.77942085T=CA1177631148NEXNc.1536T= (p.Asn512=)
c.1344T= (p.Asn448=)
c.1235T=
n.375T=
n.1110T=
c.1494T= (p.Asn498=)
c.1314T= (p.Asn438=)
c.1302T= (p.Asn434=)
c.1119T= (p.Asn373=)
1g.77942085dupCA2740090787NEXNc.1536dup (p.Met513TyrfsTer4)
c.1344dup (p.Met449TyrfsTer4)
c.1235dup
n.375dup
n.1110dup
c.1494dup (p.Met499TyrfsTer4)
c.1314dup (p.Met439TyrfsTer4)
c.1302dup (p.Met435TyrfsTer4)
c.1119dup (p.Met374TyrfsTer4)
ClinVar
1g.77942086A=CA1144119980NEXNc.1537A= (p.Met513=)
c.1345A= (p.Met449=)
c.1236A=
n.376A=
n.1111A=
c.1495A= (p.Met499=)
c.1315A= (p.Met439=)
c.1303A= (p.Met435=)
c.1120A= (p.Met374=)
1g.77942086A>CCA340880926NEXNc.1537A>C (p.Met513Leu)
c.1345A>C (p.Met449Leu)
c.1236A>C
n.376A>C
n.1111A>C
c.1495A>C (p.Met499Leu)
c.1315A>C (p.Met439Leu)
c.1303A>C (p.Met435Leu)
c.1120A>C (p.Met374Leu)
1g.77942086A>GCA24691058NEXNc.1537A>G (p.Met513Val)
c.1345A>G (p.Met449Val)
c.1236A>G
n.376A>G
n.1111A>G
c.1495A>G (p.Met499Val)
c.1315A>G (p.Met439Val)
c.1303A>G (p.Met435Val)
c.1120A>G (p.Met374Val)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.77942086A>TCA340880927NEXNc.1537A>T (p.Met513Leu)
c.1345A>T (p.Met449Leu)
c.1236A>T
n.376A>T
n.1111A>T
c.1495A>T (p.Met499Leu)
c.1315A>T (p.Met439Leu)
c.1303A>T (p.Met435Leu)
c.1120A>T (p.Met374Leu)
1g.77942087T>ACA340880933NEXNc.1538T>A (p.Met513Lys)
c.1346T>A (p.Met449Lys)
c.1237T>A
n.377T>A
n.1112T>A
c.1496T>A (p.Met499Lys)
c.1316T>A (p.Met439Lys)
c.1304T>A (p.Met435Lys)
c.1121T>A (p.Met374Lys)
COSMIC COSMIC
1g.77942087T>CCA340880934NEXNc.1538T>C (p.Met513Thr)
c.1346T>C (p.Met449Thr)
c.1237T>C
n.377T>C
n.1112T>C
c.1496T>C (p.Met499Thr)
c.1316T>C (p.Met439Thr)
c.1304T>C (p.Met435Thr)
c.1121T>C (p.Met374Thr)
1g.77942087T>GCA340880932NEXNc.1538T>G (p.Met513Arg)
c.1346T>G (p.Met449Arg)
c.1237T>G
n.377T>G
n.1112T>G
c.1496T>G (p.Met499Arg)
c.1316T>G (p.Met439Arg)
c.1304T>G (p.Met435Arg)
c.1121T>G (p.Met374Arg)
1g.77942088G>ACA340880935NEXNc.1539G>A (p.Met513Ile)
c.1347G>A (p.Met449Ile)
c.1238G>A
n.378G>A
n.1113G>A
c.1497G>A (p.Met499Ile)
c.1317G>A (p.Met439Ile)
c.1305G>A (p.Met435Ile)
c.1122G>A (p.Met374Ile)
dbSNP
1g.77942088G>CCA340880937NEXNc.1539G>C (p.Met513Ile)
c.1347G>C (p.Met449Ile)
c.1238G>C
n.378G>C
n.1113G>C
c.1497G>C (p.Met499Ile)
c.1317G>C (p.Met439Ile)
c.1305G>C (p.Met435Ile)
c.1122G>C (p.Met374Ile)
1g.77942088G>TCA340880938NEXNc.1539G>T (p.Met513Ile)
c.1347G>T (p.Met449Ile)
c.1238G>T
n.378G>T
n.1113G>T
c.1497G>T (p.Met499Ile)
c.1317G>T (p.Met439Ile)
c.1305G>T (p.Met435Ile)
c.1122G>T (p.Met374Ile)
1g.77942089A>CCA340880940NEXNc.1540A>C (p.Lys514Gln)
c.1348A>C (p.Lys450Gln)
c.1239A>C
n.379A>C
n.1114A>C
c.1498A>C (p.Lys500Gln)
c.1318A>C (p.Lys440Gln)
c.1306A>C (p.Lys436Gln)
c.1123A>C (p.Lys375Gln)
1g.77942089A>GCA340880941NEXNc.1540A>G (p.Lys514Glu)
c.1348A>G (p.Lys450Glu)
c.1239A>G
n.379A>G
n.1114A>G
c.1498A>G (p.Lys500Glu)
c.1318A>G (p.Lys440Glu)
c.1306A>G (p.Lys436Glu)
c.1123A>G (p.Lys375Glu)

Number of alleles fetched