Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.151490465T>CCA148226NEB,RIF1c.3513A>G
c.1803A>G
n.1023A>G
c.6909A>G
n.3095A>G
c.25204A>G (p.Ile8402Val)
c.19636A>G (p.Ile6546Val)
c.1605A>G
c.8650A>G (p.Ile2884Val)
c.1926A>G
c.2656-4764T>C
n.480+3709T>C
c.25309A>G (p.Ile8437Val)
c.25111A>G (p.Ile8371Val)
c.25018A>G (p.Ile8340Val)
c.24925A>G (p.Ile8309Val)
c.24832A>G (p.Ile8278Val)
c.24739A>G (p.Ile8247Val)
c.24646A>G (p.Ile8216Val)
c.24553A>G (p.Ile8185Val)
c.24475A>G (p.Ile8159Val)
c.24460A>G (p.Ile8154Val)
c.22288A>G (p.Ile7430Val)
c.23017A>G (p.Ile7673Val)
c.20830A>G (p.Ile6944Val)
n.7839-4764T>C
n.7838+7130T>C
c.25093A>G (p.Ile8365Val)
c.24181A>G (p.Ile8061Val)
n.8214-4764T>C
n.8213+7130T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.151490465T=CA1298148276NEB,RIF1c.3513A=
c.1803A=
n.1023A=
c.6909A=
n.3095A=
c.25204A= (p.Ile8402=)
c.19636A= (p.Ile6546=)
c.1605A=
c.8650A= (p.Ile2884=)
c.1926A=
c.2656-4764T=
n.480+3709T=
c.25309A= (p.Ile8437=)
c.25111A= (p.Ile8371=)
c.25018A= (p.Ile8340=)
c.24925A= (p.Ile8309=)
c.24832A= (p.Ile8278=)
c.24739A= (p.Ile8247=)
c.24646A= (p.Ile8216=)
c.24553A= (p.Ile8185=)
c.24475A= (p.Ile8159=)
c.24460A= (p.Ile8154=)
c.22288A= (p.Ile7430=)
c.23017A= (p.Ile7673=)
c.20830A= (p.Ile6944=)
n.7839-4764T=
n.7838+7130T=
c.25093A= (p.Ile8365=)
c.24181A= (p.Ile8061=)
n.8214-4764T=
n.8213+7130T=
 dbSNP
2g.151490465T>ACA348771090NEB,RIF1c.3513A>T
c.1803A>T
n.1023A>T
c.6909A>T
n.3095A>T
c.25204A>T (p.Ile8402Phe)
c.19636A>T (p.Ile6546Phe)
c.1605A>T
c.8650A>T (p.Ile2884Phe)
c.1926A>T
c.2656-4764T>A
n.480+3709T>A
c.25309A>T (p.Ile8437Phe)
c.25111A>T (p.Ile8371Phe)
c.25018A>T (p.Ile8340Phe)
c.24925A>T (p.Ile8309Phe)
c.24832A>T (p.Ile8278Phe)
c.24739A>T (p.Ile8247Phe)
c.24646A>T (p.Ile8216Phe)
c.24553A>T (p.Ile8185Phe)
c.24475A>T (p.Ile8159Phe)
c.24460A>T (p.Ile8154Phe)
c.22288A>T (p.Ile7430Phe)
c.23017A>T (p.Ile7673Phe)
c.20830A>T (p.Ile6944Phe)
n.7839-4764T>A
n.7838+7130T>A
c.25093A>T (p.Ile8365Phe)
c.24181A>T (p.Ile8061Phe)
n.8214-4764T>A
n.8213+7130T>A
 dbSNP
2g.151490465T>GCA348771091NEB,RIF1c.3513A>C
c.1803A>C
n.1023A>C
c.6909A>C
n.3095A>C
c.25204A>C (p.Ile8402Leu)
c.19636A>C (p.Ile6546Leu)
c.1605A>C
c.8650A>C (p.Ile2884Leu)
c.1926A>C
c.2656-4764T>G
n.480+3709T>G
c.25309A>C (p.Ile8437Leu)
c.25111A>C (p.Ile8371Leu)
c.25018A>C (p.Ile8340Leu)
c.24925A>C (p.Ile8309Leu)
c.24832A>C (p.Ile8278Leu)
c.24739A>C (p.Ile8247Leu)
c.24646A>C (p.Ile8216Leu)
c.24553A>C (p.Ile8185Leu)
c.24475A>C (p.Ile8159Leu)
c.24460A>C (p.Ile8154Leu)
c.22288A>C (p.Ile7430Leu)
c.23017A>C (p.Ile7673Leu)
c.20830A>C (p.Ile6944Leu)
n.7839-4764T>G
n.7838+7130T>G
c.25093A>C (p.Ile8365Leu)
c.24181A>C (p.Ile8061Leu)
n.8214-4764T>G
n.8213+7130T>G
 dbSNP

Number of alleles fetched