Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.43949968_43950010delCA2695233485NDP,NDP-AS1c.195_237del (p.Glu66ArgfsTer24)
n.239_281del
n.237_279del
Xg.43949983delCA2579590502NDP,NDP-AS1c.218del (p.Ser73TyrfsTer?)
n.262del
n.252del
Xg.43949983G>ACA413007866NDP,NDP-AS1c.218C>T (p.Ser73Leu)
n.262C>T
n.252G>A
gnomAD v4
Xg.43949983G>CCA413007868NDP,NDP-AS1c.218C>G (p.Ser73Ter)
n.262C>G
n.252G>C
Xg.43949983G=CA2426745302NDP,NDP-AS1c.218C= (p.Ser73=)
n.262C=
n.252G=
Xg.43949983G>TCA255485NDP,NDP-AS1c.218C>A (p.Ser73Ter)
n.262C>A
n.252G>T
ClinVar dbSNP
Xg.43949984A>CCA413007872NDP,NDP-AS1c.217T>G (p.Ser73Ala)
n.261T>G
n.253A>C
Xg.43949984A>GCA413007875NDP,NDP-AS1c.217T>C (p.Ser73Pro)
n.261T>C
n.253A>G
Xg.43949984A>TCA413007876NDP,NDP-AS1c.217T>A (p.Ser73Thr)
n.261T>A
n.253A>T
Xg.43949985C>ACA516139528NDP,NDP-AS1c.216G>T (p.Ala72=)
n.260G>T
n.254C>A
Xg.43949985C=CA2426745303NDP,NDP-AS1c.216G= (p.Ala72=)
n.260G=
n.254C=
Xg.43949985C>GCA516139529NDP,NDP-AS1c.216G>C (p.Ala72=)
n.260G>C
n.254C>G
Xg.43949985C>TCA10391415NDP,NDP-AS1c.216G>A (p.Ala72=)
n.260G>A
n.254C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.43949986G>ACA413007880NDP,NDP-AS1c.215C>T (p.Ala72Val)
n.259C>T
n.255G>A
Xg.43949986G>CCA413007882NDP,NDP-AS1c.215C>G (p.Ala72Gly)
n.259C>G
n.255G>C
Xg.43949986G=CA2426745304NDP,NDP-AS1c.215C= (p.Ala72=)
n.259C=
n.255G=
Xg.43949986G>TCA413007883NDP,NDP-AS1c.215C>A (p.Ala72Glu)
n.259C>A
n.255G>T
dbSNP gnomAD v3 gnomAD v4
Xg.43949987C>ACA413007887NDP,NDP-AS1c.214G>T (p.Ala72Ser)
n.258G>T
n.256C>A
gnomAD v4
Xg.43949987C>GCA413007889NDP,NDP-AS1c.214G>C (p.Ala72Pro)
n.258G>C
n.256C>G
Xg.43949987C>TCA413007885NDP,NDP-AS1c.214G>A (p.Ala72Thr)
n.258G>A
n.256C>T
gnomAD v4
Xg.43949988C>ACA413007891NDP,NDP-AS1c.213G>T (p.Gln71His)
n.257G>T
n.257C>A
Xg.43949988C>GCA413007894NDP,NDP-AS1c.213G>C (p.Gln71His)
n.257G>C
n.257C>G
Xg.43949988C>TCA516139531NDP,NDP-AS1c.213G>A (p.Gln71=)
n.257G>A
n.257C>T
Xg.43949989T>ACA413007897NDP,NDP-AS1c.212A>T (p.Gln71Leu)
n.256A>T
n.258T>A
Xg.43949989T>CCA413007900NDP,NDP-AS1c.212A>G (p.Gln71Arg)
n.256A>G
n.258T>C
Xg.43949989T>GCA413007902NDP,NDP-AS1c.212A>C (p.Gln71Pro)
n.256A>C
n.258T>G
Xg.43949990G>ACA413007905NDP,NDP-AS1c.211C>T (p.Gln71Ter)
n.255C>T
n.259G>A
Xg.43949990G>CCA413007907NDP,NDP-AS1c.211C>G (p.Gln71Glu)
n.255C>G
n.259G>C
Xg.43949990G>TCA413007909NDP,NDP-AS1c.211C>A (p.Gln71Lys)
n.255C>A
n.259G>T
Xg.43949991G>ACA516139534NDP,NDP-AS1c.210C>T (p.Ser70=)
n.254C>T
n.260G>A
ClinVar dbSNP gnomAD v4
Xg.43949991G>CCA413007912NDP,NDP-AS1c.210C>G (p.Ser70Arg)
n.254C>G
n.260G>C
Xg.43949991G=CA2426745305NDP,NDP-AS1c.210C= (p.Ser70=)
n.254C=
n.260G=
Xg.43949991G>TCA413007913NDP,NDP-AS1c.210C>A (p.Ser70Arg)
n.254C>A
n.260G>T
gnomAD v3 gnomAD v4
Xg.43949992C>ACA413007915NDP,NDP-AS1c.209G>T (p.Ser70Ile)
n.253G>T
n.261C>A
Xg.43949992C>GCA413007918NDP,NDP-AS1c.209G>C (p.Ser70Thr)
n.253G>C
n.261C>G
Xg.43949992C>TCA413007920NDP,NDP-AS1c.209G>A (p.Ser70Asn)
n.253G>A
n.261C>T
gnomAD v4
Xg.43949993T>ACA413007924NDP,NDP-AS1c.208A>T (p.Ser70Cys)
n.252A>T
n.262T>A
Xg.43949993T>CCA413007923NDP,NDP-AS1c.208A>G (p.Ser70Gly)
n.252A>G
n.262T>C
Xg.43949993T>GCA413007922NDP,NDP-AS1c.208A>C (p.Ser70Arg)
n.252A>C
n.262T>G
Xg.43949994G>ACA516139535NDP,NDP-AS1c.207C>T (p.Cys69=)
n.251C>T
n.263G>A
gnomAD v4
Xg.43949994G>CCA413007925NDP,NDP-AS1c.207C>G (p.Cys69Trp)
n.251C>G
n.263G>C
Xg.43949994G>TCA413007926NDP,NDP-AS1c.207C>A (p.Cys69Ter)
n.251C>A
n.263G>T
gnomAD v4
Xg.43949995C>ACA413007929NDP,NDP-AS1c.206G>T (p.Cys69Phe)
n.250G>T
n.264C>A
Xg.43949995C=CA2426745306NDP,NDP-AS1c.206G= (p.Cys69=)
n.250G=
n.264C=
Xg.43949995C>GCA255472NDP,NDP-AS1c.206G>C (p.Cys69Ser)
n.250G>C
n.264C>G
ClinVar dbSNP
Xg.43949995C>TCA413007932NDP,NDP-AS1c.206G>A (p.Cys69Tyr)
n.250G>A
n.264C>T
Xg.43949996delCA2695233486NDP,NDP-AS1c.205del (p.Cys69AlafsTer?)
n.249del
n.265del
Xg.43949996A>CCA413007938NDP,NDP-AS1c.205T>G (p.Cys69Gly)
n.249T>G
n.265A>C
Xg.43949996A>GCA413007939NDP,NDP-AS1c.205T>C (p.Cys69Arg)
n.249T>C
n.265A>G
gnomAD v4
Xg.43949996A>TCA413007941NDP,NDP-AS1c.205T>A (p.Cys69Ser)
n.249T>A
n.265A>T

Number of alleles fetched