Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.240868883G>ACA432234713AGXTc.18G>A (p.Leu6=)
n.38G>A
n.405+1350C>T
2g.240868883G>CCA432234712AGXTc.18G>C (p.Leu6=)
n.38G>C
n.405+1350C>G
2g.240868883G=CA1339330741AGXTc.18G= (p.Leu6=)
n.38G=
n.405+1350C=
2g.240868883G>TCA432234710AGXTc.18G>T (p.Leu6=)
n.38G>T
n.405+1350C>A
2g.240868884C>ACA351312662AGXTc.19C>A (p.Leu7Met)
n.39C>A
n.405+1349G>T
2g.240868884C>GCA351312665AGXTc.19C>G (p.Leu7Val)
n.39C>G
n.405+1349G>C
2g.240868884C>TCA432234714AGXTc.19C>T (p.Leu7=)
n.39C>T
n.405+1349G>A
2g.240868885T>ACA351312672AGXTc.20T>A (p.Leu7Gln)
n.40T>A
n.405+1348A>T
2g.240868885T>CCA351312674AGXTc.20T>C (p.Leu7Pro)
n.40T>C
n.405+1348A>G
2g.240868885T>GCA351312676AGXTc.20T>G (p.Leu7Arg)
n.40T>G
n.405+1348A>C
2g.240868886G>ACA432234716AGXTc.21G>A (p.Leu7=)
n.41G>A
n.405+1347C>T
2g.240868886G>CCA432234717AGXTc.21G>C (p.Leu7=)
n.41G>C
n.405+1347C>G
gnomAD
2g.240868886G=CA1339330742AGXTc.21G= (p.Leu7=)
n.41G=
n.405+1347C=
2g.240868886G>TCA432234719AGXTc.21G>T (p.Leu7=)
n.41G>T
n.405+1347C>A
2g.240868887G>ACA351312679AGXTc.22G>A (p.Val8Met)
n.42G>A
n.405+1346C>T
2g.240868887G>CCA275617AGXTc.22G>C (p.Val8Leu)
n.42G>C
n.405+1346C>G
ClinVar dbSNP gnomAD
2g.240868887G=CA1339330743AGXTc.22G= (p.Val8=)
n.42G=
n.405+1346C=
2g.240868887G>TCA351312678AGXTc.22G>T (p.Val8Leu)
n.42G>T
n.405+1346C>A
2g.240868888T>ACA351312680AGXTc.23T>A (p.Val8Glu)
n.43T>A
n.405+1345A>T
2g.240868888T>CCA351312684AGXTc.23T>C (p.Val8Ala)
n.43T>C
n.405+1345A>G
2g.240868888T>GCA351312687AGXTc.23T>G (p.Val8Gly)
n.43T>G
n.405+1345A>C
2g.240868889G>ACA432234723AGXTc.24G>A (p.Val8=)
n.44G>A
n.405+1344C>T
2g.240868889G>CCA432234725AGXTc.24G>C (p.Val8=)
n.44G>C
n.405+1344C>G
2g.240868889G>TCA432234726AGXTc.24G>T (p.Val8=)
n.44G>T
n.405+1344C>A
2g.240868890A=CA1339330745AGXTc.25A= (p.Thr9=)
n.45A=
n.405+1343T=
2g.240868890A>CCA351312688AGXTc.25A>C (p.Thr9Pro)
n.45A>C
n.405+1343T>G
2g.240868890A>GCA351312689AGXTc.25A>G (p.Thr9Ala)
n.45A>G
n.405+1343T>C
2g.240868890A>TCA351312690AGXTc.25A>T (p.Thr9Ser)
n.45A>T
n.405+1343T>A
2g.240868890_240868892delinsACCCA1339330744AGXTc.25_27delinsACC (p.Thr9=)
n.45_47delinsACC
n.405+1341_405+1343delinsGGT
2g.240868891C>ACA275540AGXTc.26C>A (p.Thr9Asn)
n.46C>A
n.405+1342G>T
ClinVar dbSNP ExAC gnomAD
2g.240868891C=CA1339330746AGXTc.26C= (p.Thr9=)
n.46C=
n.405+1342G=
2g.240868891C>GCA351312710AGXTc.26C>G (p.Thr9Ser)
n.46C>G
n.405+1342G>C
2g.240868891C>TCA351312704AGXTc.26C>T (p.Thr9Ile)
n.46C>T
n.405+1342G>A
2g.240868898dupCA345700AGXTc.33dup (p.Lys12GlnfsTer?)
n.53dup
n.405+1342dup
ClinVar dbSNP dbSNP ExAC gnomAD COSMIC COSMIC
2g.240868898delCA273942AGXTc.33del (p.Lys12ArgfsTer?)
n.53del
n.405+1342del
ClinVar dbSNP dbSNP ExAC gnomAD COSMIC
2g.240868897_240868898delCA275814AGXTc.32_33del (p.Pro11GlnfsTer?)
n.52_53del
n.405+1341_405+1342del
ClinVar dbSNP
2g.240868892C>ACA275541AGXTc.27C>A (p.Thr9=)
n.47C>A
n.405+1341G>T
ClinVar dbSNP ExAC gnomAD
2g.240868892C=CA1339330747AGXTc.27C= (p.Thr9=)
n.47C=
n.405+1341G=
2g.240868892C>GCA2208962AGXTc.27C>G (p.Thr9=)
n.47C>G
n.405+1341G>C
dbSNP ExAC gnomAD
2g.240868892C>TCA432234736AGXTc.27C>T (p.Thr9=)
n.47C>T
n.405+1341G>A
COSMIC
2g.240868893C>ACA2208963AGXTc.28C>A (p.Pro10Thr)
n.48C>A
n.405+1340G>T
dbSNP ExAC gnomAD
2g.240868893C=CA1339330748AGXTc.28C= (p.Pro10=)
n.48C=
n.405+1340G=
2g.240868893C>GCA2208964AGXTc.28C>G (p.Pro10Ala)
n.48C>G
n.405+1340G>C
ClinVar dbSNP ExAC gnomAD
2g.240868893C>TCA275619AGXTc.28C>T (p.Pro10Ser)
n.48C>T
n.405+1340G>A
ClinVar dbSNP ExAC gnomAD
2g.240868894C>ACA2208965AGXTc.29C>A (p.Pro10His)
n.49C>A
n.405+1339G>T
dbSNP ExAC gnomAD
2g.240868894C=CA1339330749AGXTc.29C= (p.Pro10=)
n.49C=
n.405+1339G=
2g.240868894C>GCA351312723AGXTc.29C>G (p.Pro10Arg)
n.49C>G
n.405+1339G>C
2g.240868894C>TCA351312726AGXTc.29C>T (p.Pro10Leu)
n.49C>T
n.405+1339G>A
gnomAD
2g.240868895C>ACA432234740AGXTc.30C>A (p.Pro10=)
n.50C>A
n.405+1338G>T
2g.240868895C>GCA432234741AGXTc.30C>G (p.Pro10=)
n.50C>G
n.405+1338G>C

Number of alleles fetched