Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.63785142G>ACA259716ARHGEF9c.4C>T (p.Gln2Ter)
n.73C>T
c.-118+10374C>T (p.=)
c.-158C>T (p.=)
c.-221C>T (p.=)
ClinVar dbSNP
Xg.63785142G>CCA413405884ARHGEF9c.4C>G (p.Gln2Glu)
n.73C>G
c.-118+10374C>G (p.=)
c.-158C>G (p.=)
c.-221C>G (p.=)
Xg.63785142G>TCA413405883ARHGEF9c.4C>A (p.Gln2Lys)
n.73C>A
c.-118+10374C>A (p.=)
c.-158C>A (p.=)
c.-221C>A (p.=)
Xg.63785143C>ACA413405885ARHGEF9c.3G>T
n.72G>T
c.-118+10373G>T (p.=)
c.-159G>T (p.=)
c.-222G>T (p.=)
Xg.63785143C>GCA413405886ARHGEF9c.3G>C
n.72G>C
c.-118+10373G>C (p.=)
c.-159G>C (p.=)
c.-222G>C (p.=)
Xg.63785143C>TCA413405887ARHGEF9c.3G>A
n.72G>A
c.-118+10373G>A (p.=)
c.-159G>A (p.=)
c.-222G>A (p.=)
Xg.63785144A>CCA413405888ARHGEF9c.2T>G
n.71T>G
c.-118+10372T>G (p.=)
c.-160T>G (p.=)
c.-223T>G (p.=)
Xg.63785144A>GCA413405889ARHGEF9c.2T>C
n.71T>C
c.-118+10372T>C (p.=)
c.-160T>C (p.=)
c.-223T>C (p.=)
Xg.63785144A>TCA413405890ARHGEF9c.2T>A
n.71T>A
c.-118+10372T>A (p.=)
c.-160T>A (p.=)
c.-223T>A (p.=)
Xg.63785145T>ACA413405891ARHGEF9c.1A>T
n.70A>T
c.-118+10371A>T (p.=)
c.-161A>T (p.=)
c.-224A>T (p.=)
Xg.63785145T>CCA413405892ARHGEF9c.1A>G
n.70A>G
c.-118+10371A>G (p.=)
c.-161A>G (p.=)
c.-224A>G (p.=)
Xg.63785145T>GCA413405893ARHGEF9c.1A>C
n.70A>C
c.-118+10371A>C (p.=)
c.-161A>C (p.=)
c.-224A>C (p.=)
Xg.63785153_63785166delCA10432026ARHGEF9c.-17_-4del (p.=)
n.53_66del
c.-118+10354_-118+10367del (p.=)
c.-178_-165del (p.=)
c.-241_-228del (p.=)
dbSNP ExAC gnomAD
Xg.63785153G>ACA642213087ARHGEF9c.-8C>T (p.=)
n.62C>T
c.-118+10363C>T (p.=)
c.-169C>T (p.=)
c.-232C>T (p.=)
gnomAD
Xg.63785155G>ACA1133627559ARHGEF9c.-10C>T (p.=)
n.60C>T
c.-118+10361C>T (p.=)
c.-171C>T (p.=)
c.-234C>T (p.=)
Xg.63785161delCA1133627561ARHGEF9c.-15del (p.=)
n.55del
c.-118+10356del (p.=)
c.-176del (p.=)
c.-239del (p.=)
Xg.63785161C>TCA877129043ARHGEF9c.-16G>A (p.=)
n.54G>A
c.-118+10355G>A (p.=)
c.-177G>A (p.=)
c.-240G>A (p.=)
Xg.63785162G>ACA642213088ARHGEF9c.-17C>T (p.=)
n.53C>T
c.-118+10354C>T (p.=)
c.-178C>T (p.=)
c.-241C>T (p.=)
gnomAD
Xg.63785162G>TCA877129045ARHGEF9c.-17C>A (p.=)
n.53C>A
c.-118+10354C>A (p.=)
c.-178C>A (p.=)
c.-241C>A (p.=)
Xg.63785163G>ACA877129047ARHGEF9c.-18C>T (p.=)
n.52C>T
c.-118+10353C>T (p.=)
c.-179C>T (p.=)
c.-242C>T (p.=)
Xg.63785163G>TCA642213089ARHGEF9c.-18C>A (p.=)
n.52C>A
c.-118+10353C>A (p.=)
c.-179C>A (p.=)
c.-242C>A (p.=)
gnomAD
Xg.63785166T>CCA10432027ARHGEF9c.-21A>G (p.=)
n.49A>G
c.-118+10350A>G (p.=)
c.-182A>G (p.=)
c.-245A>G (p.=)
dbSNP ExAC gnomAD
Xg.63785168T>CCA642213090ARHGEF9c.-23A>G (p.=)
n.47A>G
c.-118+10348A>G (p.=)
c.-184A>G (p.=)
c.-247A>G (p.=)
gnomAD
Xg.63785174G>ACA642213091ARHGEF9c.-29C>T (p.=)
n.41C>T
c.-118+10342C>T (p.=)
c.-190C>T (p.=)
c.-253C>T (p.=)
gnomAD
Xg.63785174G>TCA877129058ARHGEF9c.-29C>A (p.=)
n.41C>A
c.-118+10342C>A (p.=)
c.-190C>A (p.=)
c.-253C>A (p.=)
Xg.63785175C>ACA877129065ARHGEF9c.-30G>T (p.=)
n.40G>T
c.-118+10341G>T (p.=)
c.-191G>T (p.=)
c.-254G>T (p.=)
Xg.63785176C>ACA1133627566ARHGEF9c.-31G>T (p.=)
n.39G>T
c.-118+10340G>T (p.=)
c.-192G>T (p.=)
c.-255G>T (p.=)
Xg.63785178C>GCA1133627569ARHGEF9c.-33G>C (p.=)
n.37G>C
c.-118+10338G>C (p.=)
c.-194G>C (p.=)
c.-257G>C (p.=)
Xg.63785178C>TCA10432028ARHGEF9c.-33G>A (p.=)
n.37G>A
c.-118+10338G>A (p.=)
c.-194G>A (p.=)
c.-257G>A (p.=)
dbSNP ExAC gnomAD
Xg.63785179G>TCA10432029ARHGEF9c.-34C>A (p.=)
n.36C>A
c.-118+10337C>A (p.=)
c.-195C>A (p.=)
c.-258C>A (p.=)
dbSNP ExAC gnomAD
Xg.63785187C>ACA877129078ARHGEF9c.-42G>T (p.=)
n.28G>T
c.-118+10329G>T (p.=)
c.-203G>T (p.=)
c.-266G>T (p.=)
Xg.63785188G>CCA642213092ARHGEF9c.-43C>G (p.=)
n.27C>G
c.-118+10328C>G (p.=)
c.-204C>G (p.=)
c.-267C>G (p.=)
gnomAD
Xg.63785189C>ACA915877829ARHGEF9c.-44G>T (p.=)
n.26G>T
c.-118+10327G>T (p.=)
c.-205G>T (p.=)
c.-268G>T (p.=)
gnomAD
Xg.63785189C>GCA642213093ARHGEF9c.-44G>C (p.=)
n.26G>C
c.-118+10327G>C (p.=)
c.-205G>C (p.=)
c.-268G>C (p.=)
gnomAD
Xg.63785189C>TCA1133627573ARHGEF9c.-44G>A (p.=)
n.26G>A
c.-118+10327G>A (p.=)
c.-205G>A (p.=)
c.-268G>A (p.=)
Xg.63785192G>ACA10432030ARHGEF9c.-47C>T (p.=)
n.23C>T
c.-118+10324C>T (p.=)
c.-208C>T (p.=)
c.-271C>T (p.=)
dbSNP ExAC gnomAD
Xg.63785198_63785199insACA657704485ARHGEF9c.-54_-53insT (p.=)
n.16_17insT
c.-118+10317_-118+10318insT (p.=)
c.-215_-214insT (p.=)
c.-278_-277insT (p.=)
COSMIC
Xg.63785206A>TCA330346014ARHGEF9c.-61T>A (p.=)
n.9T>A
c.-118+10310T>A (p.=)
c.-222T>A (p.=)
c.-285T>A (p.=)
dbSNP gnomAD
Xg.63785209A>GCA1133627580ARHGEF9c.-64T>C (p.=)
n.6T>C
c.-118+10307T>C (p.=)
c.-225T>C (p.=)
c.-288T>C (p.=)
Xg.63785210G>ACA877129098ARHGEF9c.-65C>T (p.=)
n.5C>T
c.-118+10306C>T (p.=)
c.-226C>T (p.=)
c.-289C>T (p.=)
Xg.63785216C>TCA642213094ARHGEF9c.-71G>A (p.=)
c.-118+10300G>A (p.=)
c.-232G>A (p.=)
gnomAD
Xg.63785220G>ACA642213095ARHGEF9c.-75C>T (p.=)
c.-118+10296C>T (p.=)
c.-236C>T (p.=)
gnomAD
Xg.63785221C>TCA330346015ARHGEF9c.-76G>A (p.=)
c.-118+10295G>A (p.=)
c.-237G>A (p.=)
dbSNP
Xg.63785222T>ACA642213096ARHGEF9c.-77A>T (p.=)
c.-118+10294A>T (p.=)
c.-238A>T (p.=)
gnomAD
Xg.63785223G>ACA877129106ARHGEF9c.-78C>T (p.=)
c.-118+10293C>T (p.=)
c.-239C>T (p.=)
Xg.63785227C>ACA877129116ARHGEF9c.-82G>T (p.=)
c.-118+10289G>T (p.=)
c.-243G>T (p.=)
Xg.63785227C>TCA642213097ARHGEF9c.-82G>A (p.=)
c.-118+10289G>A (p.=)
c.-243G>A (p.=)
gnomAD
Xg.63785230G>ACA1133627584ARHGEF9c.-85C>T (p.=)
c.-118+10286C>T (p.=)
c.-246C>T (p.=)
Xg.63785238C>TCA1133627587ARHGEF9c.-93G>A (p.=)
c.-118+10278G>A (p.=)
c.-254G>A (p.=)
Xg.63785239C>TCA877129120ARHGEF9c.-94G>A (p.=)
c.-118+10277G>A (p.=)
c.-255G>A (p.=)

Number of alleles fetched