Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.219425734C>ACA431285602DESn.834C>A
n.748C>A
c.1360C>A (p.Arg454=)
n.215C>A
c.1357C>A (p.Arg453=)
c.928C>A (p.Arg310=)
c.1291C>A (p.Arg431=)
c.1339C>A (p.Arg447=)
c.1090C>A (p.Arg364=)
 ClinVar
2g.219425734C=CA1329213136DESn.834C=
n.748C=
c.1360C= (p.Arg454=)
n.215C=
c.1357C= (p.Arg453=)
c.928C= (p.Arg310=)
c.1291C= (p.Arg431=)
c.1339C= (p.Arg447=)
c.1090C= (p.Arg364=)
2g.219425734C>GCA350698765DESn.834C>G
n.748C>G
c.1360C>G (p.Arg454Gly)
n.215C>G
c.1357C>G (p.Arg453Gly)
c.928C>G (p.Arg310Gly)
c.1291C>G (p.Arg431Gly)
c.1339C>G (p.Arg447Gly)
c.1090C>G (p.Arg364Gly)
2g.219425734C>TCA217043DESn.834C>T
n.748C>T
c.1360C>T (p.Arg454Trp)
n.215C>T
c.1357C>T (p.Arg453Trp)
c.928C>T (p.Arg310Trp)
c.1291C>T (p.Arg431Trp)
c.1339C>T (p.Arg447Trp)
c.1090C>T (p.Arg364Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.219425735G>ACA302358DESn.835G>A
n.749G>A
c.1361G>A (p.Arg454Gln)
n.216G>A
c.1358G>A (p.Arg453Gln)
c.929G>A (p.Arg310Gln)
c.1292G>A (p.Arg431Gln)
c.1340G>A (p.Arg447Gln)
c.1091G>A (p.Arg364Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.219425735G>CCA350698772DESn.835G>C
n.749G>C
c.1361G>C (p.Arg454Pro)
n.216G>C
c.1358G>C (p.Arg453Pro)
c.929G>C (p.Arg310Pro)
c.1292G>C (p.Arg431Pro)
c.1340G>C (p.Arg447Pro)
c.1091G>C (p.Arg364Pro)
2g.219425735G=CA1329213137DESn.835G=
n.749G=
c.1361G= (p.Arg454=)
n.216G=
c.1358G= (p.Arg453=)
c.929G= (p.Arg310=)
c.1292G= (p.Arg431=)
c.1340G= (p.Arg447=)
c.1091G= (p.Arg364=)
2g.219425735G>TCA350698774DESn.835G>T
n.749G>T
c.1361G>T (p.Arg454Leu)
n.216G>T
c.1358G>T (p.Arg453Leu)
c.929G>T (p.Arg310Leu)
c.1292G>T (p.Arg431Leu)
c.1340G>T (p.Arg447Leu)
c.1091G>T (p.Arg364Leu)
 gnomAD v4
2g.219425736G>ACA431285604DESn.836G>A
n.750G>A
c.1362G>A (p.Arg454=)
n.217G>A
c.1359G>A (p.Arg453=)
c.930G>A (p.Arg310=)
c.1293G>A (p.Arg431=)
c.1341G>A (p.Arg447=)
c.1092G>A (p.Arg364=)
2g.219425736G>CCA431285605DESn.836G>C
n.750G>C
c.1362G>C (p.Arg454=)
n.217G>C
c.1359G>C (p.Arg453=)
c.930G>C (p.Arg310=)
c.1293G>C (p.Arg431=)
c.1341G>C (p.Arg447=)
c.1092G>C (p.Arg364=)
2g.219425736G>TCA431285603DESn.836G>T
n.750G>T
c.1362G>T (p.Arg454=)
n.217G>T
c.1359G>T (p.Arg453=)
c.930G>T (p.Arg310=)
c.1293G>T (p.Arg431=)
c.1341G>T (p.Arg447=)
c.1092G>T (p.Arg364=)
2g.219425737G>ACA2125306DESn.837G>A
n.751G>A
c.1363G>A (p.Asp455Asn)
n.218G>A
c.1360G>A (p.Asp454Asn)
c.931G>A (p.Asp311Asn)
c.1294G>A (p.Asp432Asn)
c.1342G>A (p.Asp448Asn)
c.1093G>A (p.Asp365Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.219425737G>CCA350698779DESn.837G>C
n.751G>C
c.1363G>C (p.Asp455His)
n.218G>C
c.1360G>C (p.Asp454His)
c.931G>C (p.Asp311His)
c.1294G>C (p.Asp432His)
c.1342G>C (p.Asp448His)
c.1093G>C (p.Asp365His)
2g.219425737G=CA1329213138DESn.837G=
n.751G=
c.1363G= (p.Asp455=)
n.218G=
c.1360G= (p.Asp454=)
c.931G= (p.Asp311=)
c.1294G= (p.Asp432=)
c.1342G= (p.Asp448=)
c.1093G= (p.Asp365=)
2g.219425737G>TCA350698781DESn.837G>T
n.751G>T
c.1363G>T (p.Asp455Tyr)
n.218G>T
c.1360G>T (p.Asp454Tyr)
c.931G>T (p.Asp311Tyr)
c.1294G>T (p.Asp432Tyr)
c.1342G>T (p.Asp448Tyr)
c.1093G>T (p.Asp365Tyr)
2g.219425738A>CCA350698786DESn.838A>C
n.752A>C
c.1364A>C (p.Asp455Ala)
n.219A>C
c.1361A>C (p.Asp454Ala)
c.932A>C (p.Asp311Ala)
c.1295A>C (p.Asp432Ala)
c.1343A>C (p.Asp448Ala)
c.1094A>C (p.Asp365Ala)
2g.219425738A>GCA350698789DESn.838A>G
n.752A>G
c.1364A>G (p.Asp455Gly)
n.219A>G
c.1361A>G (p.Asp454Gly)
c.932A>G (p.Asp311Gly)
c.1295A>G (p.Asp432Gly)
c.1343A>G (p.Asp448Gly)
c.1094A>G (p.Asp365Gly)
2g.219425738A>TCA16622112DESn.838A>T
n.752A>T
c.1364A>T (p.Asp455Val)
n.219A>T
c.1361A>T (p.Asp454Val)
c.932A>T (p.Asp311Val)
c.1295A>T (p.Asp432Val)
c.1343A>T (p.Asp448Val)
c.1094A>T (p.Asp365Val)
 ClinVar dbSNP
2g.219425739T>ACA350698792DESn.839T>A
n.753T>A
c.1365T>A (p.Asp455Glu)
n.220T>A
c.1362T>A (p.Asp454Glu)
c.933T>A (p.Asp311Glu)
c.1296T>A (p.Asp432Glu)
c.1344T>A (p.Asp448Glu)
c.1095T>A (p.Asp365Glu)
2g.219425739T>CCA431285606DESn.839T>C
n.753T>C
c.1365T>C (p.Asp455=)
n.220T>C
c.1362T>C (p.Asp454=)
c.933T>C (p.Asp311=)
c.1296T>C (p.Asp432=)
c.1344T>C (p.Asp448=)
c.1095T>C (p.Asp365=)
 gnomAD v4
2g.219425739T>GCA350698794DESn.839T>G
n.753T>G
c.1365T>G (p.Asp455Glu)
n.220T>G
c.1362T>G (p.Asp454Glu)
c.933T>G (p.Asp311Glu)
c.1296T>G (p.Asp432Glu)
c.1344T>G (p.Asp448Glu)
c.1095T>G (p.Asp365Glu)
2g.219425740G>ACA133826DESn.840G>A
n.754G>A
c.1366G>A (p.Gly456Arg)
n.221G>A
c.1363G>A (p.Gly455Arg)
c.934G>A (p.Gly312Arg)
c.1297G>A (p.Gly433Arg)
c.1345G>A (p.Gly449Arg)
c.1096G>A (p.Gly366Arg)
 ClinVar dbSNP gnomAD v4
2g.219425740G>CCA350698798DESn.840G>C
n.754G>C
c.1366G>C (p.Gly456Arg)
n.221G>C
c.1363G>C (p.Gly455Arg)
c.934G>C (p.Gly312Arg)
c.1297G>C (p.Gly433Arg)
c.1345G>C (p.Gly449Arg)
c.1096G>C (p.Gly366Arg)
2g.219425740G=CA1329213139DESn.840G=
n.754G=
c.1366G= (p.Gly456=)
n.221G=
c.1363G= (p.Gly455=)
c.934G= (p.Gly312=)
c.1297G= (p.Gly433=)
c.1345G= (p.Gly449=)
c.1096G= (p.Gly366=)
2g.219425740G>TCA350698801DESn.840G>T
n.754G>T
c.1366G>T (p.Gly456Trp)
n.221G>T
c.1363G>T (p.Gly455Trp)
c.934G>T (p.Gly312Trp)
c.1297G>T (p.Gly433Trp)
c.1345G>T (p.Gly449Trp)
c.1096G>T (p.Gly366Trp)
2g.219425741G>ACA350698807DESn.841G>A
n.755G>A
c.1367G>A (p.Gly456Glu)
n.222G>A
c.1364G>A (p.Gly455Glu)
c.935G>A (p.Gly312Glu)
c.1298G>A (p.Gly433Glu)
c.1346G>A (p.Gly449Glu)
c.1097G>A (p.Gly366Glu)
2g.219425741G>CCA350698809DESn.841G>C
n.755G>C
c.1367G>C (p.Gly456Ala)
n.222G>C
c.1364G>C (p.Gly455Ala)
c.935G>C (p.Gly312Ala)
c.1298G>C (p.Gly433Ala)
c.1346G>C (p.Gly449Ala)
c.1097G>C (p.Gly366Ala)
2g.219425741G>TCA350698813DESn.841G>T
n.755G>T
c.1367G>T (p.Gly456Val)
n.222G>T
c.1364G>T (p.Gly455Val)
c.935G>T (p.Gly312Val)
c.1298G>T (p.Gly433Val)
c.1346G>T (p.Gly449Val)
c.1097G>T (p.Gly366Val)
2g.219425742G>ACA431285607DESn.842G>A
n.756G>A
c.1368G>A (p.Gly456=)
n.223G>A
c.1365G>A (p.Gly455=)
c.936G>A (p.Gly312=)
c.1299G>A (p.Gly433=)
c.1347G>A (p.Gly449=)
c.1098G>A (p.Gly366=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.219425742G>CCA65986988DESn.842G>C
n.756G>C
c.1368G>C (p.Gly456=)
n.223G>C
c.1365G>C (p.Gly455=)
c.936G>C (p.Gly312=)
c.1299G>C (p.Gly433=)
c.1347G>C (p.Gly449=)
c.1098G>C (p.Gly366=)
 dbSNP
2g.219425742G=CA1329213140DESn.842G=
n.756G=
c.1368G= (p.Gly456=)
n.223G=
c.1365G= (p.Gly455=)
c.936G= (p.Gly312=)
c.1299G= (p.Gly433=)
c.1347G= (p.Gly449=)
c.1098G= (p.Gly366=)
2g.219425742G>TCA431285608DESn.842G>T
n.756G>T
c.1368G>T (p.Gly456=)
n.223G>T
c.1365G>T (p.Gly455=)
c.936G>T (p.Gly312=)
c.1299G>T (p.Gly433=)
c.1347G>T (p.Gly449=)
c.1098G>T (p.Gly366=)
 gnomAD v4
2g.219425743G>ACA350698821DESn.843G>A
n.757G>A
c.1369G>A (p.Glu457Lys)
n.224G>A
c.1366G>A (p.Glu456Lys)
c.937G>A (p.Glu313Lys)
c.1300G>A (p.Glu434Lys)
c.1348G>A (p.Glu450Lys)
c.1099G>A (p.Glu367Lys)
 gnomAD v4
2g.219425743G>CCA350698815DESn.843G>C
n.757G>C
c.1369G>C (p.Glu457Gln)
n.224G>C
c.1366G>C (p.Glu456Gln)
c.937G>C (p.Glu313Gln)
c.1300G>C (p.Glu434Gln)
c.1348G>C (p.Glu450Gln)
c.1099G>C (p.Glu367Gln)
2g.219425743G>TCA350698819DESn.843G>T
n.757G>T
c.1369G>T (p.Glu457Ter)
n.224G>T
c.1366G>T (p.Glu456Ter)
c.937G>T (p.Glu313Ter)
c.1300G>T (p.Glu434Ter)
c.1348G>T (p.Glu450Ter)
c.1099G>T (p.Glu367Ter)
2g.219425744A=CA1329213141DESn.844A=
n.758A=
c.1370A= (p.Glu457=)
n.225A=
c.1367A= (p.Glu456=)
c.938A= (p.Glu313=)
c.1301A= (p.Glu434=)
c.1349A= (p.Glu450=)
c.1100A= (p.Glu367=)
2g.219425744A>CCA350698827DESn.844A>C
n.758A>C
c.1370A>C (p.Glu457Ala)
n.225A>C
c.1367A>C (p.Glu456Ala)
c.938A>C (p.Glu313Ala)
c.1301A>C (p.Glu434Ala)
c.1349A>C (p.Glu450Ala)
c.1100A>C (p.Glu367Ala)
2g.219425744A>GCA350698828DESn.844A>G
n.758A>G
c.1370A>G (p.Glu457Gly)
n.225A>G
c.1367A>G (p.Glu456Gly)
c.938A>G (p.Glu313Gly)
c.1301A>G (p.Glu434Gly)
c.1349A>G (p.Glu450Gly)
c.1100A>G (p.Glu367Gly)
2g.219425744A>TCA217045DESn.844A>T
n.758A>T
c.1370A>T (p.Glu457Val)
n.225A>T
c.1367A>T (p.Glu456Val)
c.938A>T (p.Glu313Val)
c.1301A>T (p.Glu434Val)
c.1349A>T (p.Glu450Val)
c.1100A>T (p.Glu367Val)
 ClinVar dbSNP
2g.219425745G>ACA431285609DESn.845G>A
n.759G>A
c.1371G>A (p.Glu457=)
n.226G>A
c.1368G>A (p.Glu456=)
c.939G>A (p.Glu313=)
c.1302G>A (p.Glu434=)
c.1350G>A (p.Glu450=)
c.1101G>A (p.Glu367=)
2g.219425745G>CCA350698837DESn.845G>C
n.759G>C
c.1371G>C (p.Glu457Asp)
n.226G>C
c.1368G>C (p.Glu456Asp)
c.939G>C (p.Glu313Asp)
c.1302G>C (p.Glu434Asp)
c.1350G>C (p.Glu450Asp)
c.1101G>C (p.Glu367Asp)
 gnomAD v4
2g.219425745G>TCA350698840DESn.845G>T
n.759G>T
c.1371G>T (p.Glu457Asp)
n.226G>T
c.1368G>T (p.Glu456Asp)
c.939G>T (p.Glu313Asp)
c.1302G>T (p.Glu434Asp)
c.1350G>T (p.Glu450Asp)
c.1101G>T (p.Glu367Asp)
 gnomAD v4
2g.219425746G>ACA308296DESn.845+1G>A
n.759+1G>A
c.1371+1G>A (n.1371+1G>A)
n.226+1G>A
c.1368+1G>A (n.1368+1G>A)
c.939+1G>A (n.939+1G>A)
c.1302+1G>A (n.1302+1G>A)
c.1350+1G>A (n.1350+1G>A)
c.1101+1G>A (n.1101+1G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219425746G>CCA308297DESn.845+1G>C
n.759+1G>C
c.1371+1G>C (n.1371+1G>C)
n.226+1G>C
c.1368+1G>C (n.1368+1G>C)
c.939+1G>C (n.939+1G>C)
c.1302+1G>C (n.1302+1G>C)
c.1350+1G>C (n.1350+1G>C)
c.1101+1G>C (n.1101+1G>C)
 ClinVar dbSNP
2g.219425746G=CA1329213142DESn.845+1G=
n.759+1G=
c.1371+1G= (n.1371+1G=)
n.226+1G=
c.1368+1G= (n.1368+1G=)
c.939+1G= (n.939+1G=)
c.1302+1G= (n.1302+1G=)
c.1350+1G= (n.1350+1G=)
c.1101+1G= (n.1101+1G=)
2g.219425746G>TCA350698846DESn.845+1G>T
n.759+1G>T
c.1371+1G>T (n.1371+1G>T)
n.226+1G>T
c.1368+1G>T (n.1368+1G>T)
c.939+1G>T (n.939+1G>T)
c.1302+1G>T (n.1302+1G>T)
c.1350+1G>T (n.1350+1G>T)
c.1101+1G>T (n.1101+1G>T)
 ClinVar
2g.219425747T>ACA350698851DESn.845+2T>A
n.759+2T>A
c.1371+2T>A (n.1371+2T>A)
n.226+2T>A
c.1368+2T>A (n.1368+2T>A)
c.939+2T>A (n.939+2T>A)
c.1302+2T>A (n.1302+2T>A)
c.1350+2T>A (n.1350+2T>A)
c.1101+2T>A (n.1101+2T>A)
 gnomAD v4
2g.219425747T>CCA350698853DESn.845+2T>C
n.759+2T>C
c.1371+2T>C (n.1371+2T>C)
n.226+2T>C
c.1368+2T>C (n.1368+2T>C)
c.939+2T>C (n.939+2T>C)
c.1302+2T>C (n.1302+2T>C)
c.1350+2T>C (n.1350+2T>C)
c.1101+2T>C (n.1101+2T>C)
2g.219425747T>GCA350698857DESn.845+2T>G
n.759+2T>G
c.1371+2T>G (n.1371+2T>G)
n.226+2T>G
c.1368+2T>G (n.1368+2T>G)
c.939+2T>G (n.939+2T>G)
c.1302+2T>G (n.1302+2T>G)
c.1350+2T>G (n.1350+2T>G)
c.1101+2T>G (n.1101+2T>G)
 dbSNP
2g.219425747T=CA1329213143DESn.845+2T=
n.759+2T=
c.1371+2T= (n.1371+2T=)
n.226+2T=
c.1368+2T= (n.1368+2T=)
c.939+2T= (n.939+2T=)
c.1302+2T= (n.1302+2T=)
c.1350+2T= (n.1350+2T=)
c.1101+2T= (n.1101+2T=)

Number of alleles fetched