Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.240868866_240871449delCA2741808836AGXTc.1_524del
n.21_544del
ClinVar
2g.240868867T>ACA351312462AGXTc.2T>A (p.Met1Lys)
n.22T>A
n.405+1366A>T
gnomAD v4
2g.240868867T>CCA275613AGXTc.2T>C (p.Met1Thr)
n.22T>C
n.405+1366A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240868867T>GCA351312464AGXTc.2T>G (p.Met1Arg)
n.22T>G
n.405+1366A>C
2g.240868867T=CA1339330731AGXTc.2T= (p.Met1=)
n.22T=
n.405+1366A=
2g.240868867_240868868delinsATCA275812AGXTc.2_3delinsAT (p.Met1Asn)
n.22_23delinsAT
n.405+1365_405+1366delinsAT
ClinVar dbSNP
2g.240868867_240868868delinsTGCA1339330732AGXTc.2_3delinsTG (p.Met1=)
n.22_23delinsTG
n.405+1365_405+1366delinsCA
2g.240868868G>ACA351312467AGXTc.3G>A (p.Met1Ile)
n.23G>A
n.405+1365C>T
gnomAD v4
2g.240868868G>CCA351312478AGXTc.3G>C (p.Met1Ile)
n.23G>C
n.405+1365C>G
2g.240868868G=CA1339330733AGXTc.3G= (p.Met1=)
n.23G=
n.405+1365C=
2g.240868868G>TCA275615AGXTc.3G>T (p.Met1Ile)
n.23G>T
n.405+1365C>A
ClinVar dbSNP gnomAD v4
2g.240868869G>ACA351312488AGXTc.4G>A (p.Ala2Thr)
n.24G>A
n.405+1364C>T
gnomAD v4
2g.240868869G>CCA351312489AGXTc.4G>C (p.Ala2Pro)
n.24G>C
n.405+1364C>G
2g.240868869G>TCA351312487AGXTc.4G>T (p.Ala2Ser)
n.24G>T
n.405+1364C>A
2g.240868870C>ACA351312490AGXTc.5C>A (p.Ala2Asp)
n.25C>A
n.405+1363G>T
2g.240868870C>GCA351312493AGXTc.5C>G (p.Ala2Gly)
n.25C>G
n.405+1363G>C
2g.240868870C>TCA351312497AGXTc.5C>T (p.Ala2Val)
n.25C>T
n.405+1363G>A
2g.240868871C>ACA432234687AGXTc.6C>A (p.Ala2=)
n.26C>A
n.405+1362G>T
2g.240868871C=CA1339330734AGXTc.6C= (p.Ala2=)
n.26C=
n.405+1362G=
2g.240868871C>GCA432234689AGXTc.6C>G (p.Ala2=)
n.26C>G
n.405+1362G>C
2g.240868871C>TCA432234692AGXTc.6C>T (p.Ala2=)
n.26C>T
n.405+1362G>A
dbSNP gnomAD v2 gnomAD v4
2g.240868872T>ACA351312498AGXTc.7T>A (p.Ser3Thr)
n.27T>A
n.405+1361A>T
2g.240868872T>CCA351312499AGXTc.7T>C (p.Ser3Pro)
n.27T>C
n.405+1361A>G
dbSNP
2g.240868872T>GCA351312500AGXTc.7T>G (p.Ser3Ala)
n.27T>G
n.405+1361A>C
2g.240868872T=CA1339330735AGXTc.7T= (p.Ser3=)
n.27T=
n.405+1361A=
2g.240868873C>ACA351312501AGXTc.8C>A (p.Ser3Tyr)
n.28C>A
n.405+1360G>T
2g.240868873C>GCA351312502AGXTc.8C>G (p.Ser3Cys)
n.28C>G
n.405+1360G>C
gnomAD v4
2g.240868873C>TCA351312504AGXTc.8C>T (p.Ser3Phe)
n.28C>T
n.405+1360G>A
2g.240868874T>ACA432234694AGXTc.9T>A (p.Ser3=)
n.29T>A
n.405+1359A>T
ClinVar
2g.240868874T>CCA432234695AGXTc.9T>C (p.Ser3=)
n.29T>C
n.405+1359A>G
2g.240868874T>GCA432234697AGXTc.9T>G (p.Ser3=)
n.29T>G
n.405+1359A>C
2g.240868875C>ACA351312516AGXTc.10C>A (p.His4Asn)
n.30C>A
n.405+1358G>T
gnomAD v4
2g.240868875C>GCA351312520AGXTc.10C>G (p.His4Asp)
n.30C>G
n.405+1358G>C
2g.240868875C>TCA351312524AGXTc.10C>T (p.His4Tyr)
n.30C>T
n.405+1358G>A
gnomAD v4
2g.240868876A=CA1339330736AGXTc.11A= (p.His4=)
n.31A=
n.405+1357T=
2g.240868876A>CCA351312531AGXTc.11A>C (p.His4Pro)
n.31A>C
n.405+1357T>G
2g.240868876A>GCA351312530AGXTc.11A>G (p.His4Arg)
n.31A>G
n.405+1357T>C
2g.240868876A>TCA2208960AGXTc.11A>T (p.His4Leu)
n.31A>T
n.405+1357T>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240868877C>ACA351312532AGXTc.12C>A (p.His4Gln)
n.32C>A
n.405+1356G>T
2g.240868877C=CA1339330737AGXTc.12C= (p.His4=)
n.32C=
n.405+1356G=
2g.240868877C>GCA351312534AGXTc.12C>G (p.His4Gln)
n.32C>G
n.405+1356G>C
dbSNP gnomAD v4
2g.240868877C>TCA432234700AGXTc.12C>T (p.His4=)
n.32C>T
n.405+1356G>A
dbSNP
2g.240868878A>CCA351312543AGXTc.13A>C (p.Lys5Gln)
n.33A>C
n.405+1355T>G
2g.240868878A>GCA351312546AGXTc.13A>G (p.Lys5Glu)
n.33A>G
n.405+1355T>C
2g.240868878A>TCA351312549AGXTc.13A>T (p.Lys5Ter)
n.33A>T
n.405+1355T>A
2g.240868879A=CA1339330738AGXTc.14A= (p.Lys5=)
n.34A=
n.405+1354T=
2g.240868879A>CCA351312560AGXTc.14A>C (p.Lys5Thr)
n.34A>C
n.405+1354T>G
2g.240868879A>GCA68173417AGXTc.14A>G (p.Lys5Arg)
n.34A>G
n.405+1354T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.240868879A>TCA351312564AGXTc.14A>T (p.Lys5Met)
n.34A>T
n.405+1354T>A
2g.240868880G>ACA2208961AGXTc.15G>A (p.Lys5=)
n.35G>A
n.405+1353C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched