Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.111401127_111401131delinsGATGATGGTAACA2695235800DCXc.564_568delinsTTACCATCATC (p.Val189_Lys190delinsTyrHisHisGln)
c.807_811delinsTTACCATCATC (p.Val270_Lys271delinsTyrHisHisGln)
c.782_786delinsTTACCATCATC
n.804_808delinsTTACCATCATC
Xg.111401131C>ACA518114013DCXc.564G>T (p.Gly188=)
c.807G>T (p.Gly269=)
c.782G>T
n.804G>T
Xg.111401131C>GCA518114014DCXc.564G>C (p.Gly188=)
c.807G>C (p.Gly269=)
c.782G>C
n.804G>C
Xg.111401131C>TCA518114015DCXc.564G>A (p.Gly188=)
c.807G>A (p.Gly269=)
c.782G>A
n.804G>A
Xg.111401132C>ACA414246090DCXc.563G>T (p.Gly188Val)
c.806G>T (p.Gly269Val)
c.781G>T
n.803G>T
Xg.111401132C>GCA414246091DCXc.563G>C (p.Gly188Ala)
c.806G>C (p.Gly269Ala)
c.781G>C
n.803G>C
Xg.111401132C>TCA414246092DCXc.563G>A (p.Gly188Glu)
c.806G>A (p.Gly269Glu)
c.781G>A
n.803G>A
Xg.111401133C>ACA414246095DCXc.562G>T (p.Gly188Trp)
c.805G>T (p.Gly269Trp)
c.780G>T
n.802G>T
Xg.111401133C>GCA414246094DCXc.562G>C (p.Gly188Arg)
c.805G>C (p.Gly269Arg)
c.780G>C
n.802G>C
Xg.111401133C>TCA414246093DCXc.562G>A (p.Gly188Arg)
c.805G>A (p.Gly269Arg)
c.780G>A
n.802G>A
 ClinVar dbSNP
Xg.111401134A>CCA414246096DCXc.561T>G (p.Ser187Arg)
c.804T>G (p.Ser268Arg)
c.779T>G
n.801T>G
Xg.111401134A>GCA518114016DCXc.561T>C (p.Ser187=)
c.804T>C (p.Ser268=)
c.779T>C
n.801T>C
Xg.111401134A>TCA414246097DCXc.561T>A (p.Ser187Arg)
c.804T>A (p.Ser268Arg)
c.779T>A
n.801T>A
Xg.111401135C>ACA414246098DCXc.560G>T (p.Ser187Ile)
c.803G>T (p.Ser268Ile)
c.778G>T
n.800G>T
Xg.111401135C>GCA414246099DCXc.560G>C (p.Ser187Thr)
c.803G>C (p.Ser268Thr)
c.778G>C
n.800G>C
Xg.111401135C>TCA414246100DCXc.560G>A (p.Ser187Asn)
c.803G>A (p.Ser268Asn)
c.778G>A
n.800G>A
Xg.111401136T>ACA414246101DCXc.559A>T (p.Ser187Cys)
c.802A>T (p.Ser268Cys)
c.777A>T
n.799A>T
Xg.111401136T>CCA414246102DCXc.559A>G (p.Ser187Gly)
c.802A>G (p.Ser268Gly)
c.777A>G
n.799A>G
Xg.111401136T>GCA414246103DCXc.559A>C (p.Ser187Arg)
c.802A>C (p.Ser268Arg)
c.777A>C
n.799A>C
 gnomAD v4
Xg.111401137G>ACA518114017DCXc.558C>T (p.Arg186=)
c.801C>T (p.Arg267=)
c.776C>T
n.798C>T
Xg.111401137G>CCA518114018DCXc.558C>G (p.Arg186=)
c.801C>G (p.Arg267=)
c.776C>G
n.798C>G
Xg.111401137G>TCA518114019DCXc.558C>A (p.Arg186=)
c.801C>A (p.Arg267=)
c.776C>A
n.798C>A
Xg.111401138C>ACA171998DCXc.557G>T (p.Arg186Leu)
c.800G>T (p.Arg267Leu)
c.775G>T
n.797G>T
 ClinVar dbSNP COSMIC COSMIC
Xg.111401138C=CA2451697235DCXc.557G= (p.Arg186=)
c.800G= (p.Arg267=)
c.775G=
n.797G=
Xg.111401138C>GCA414246104DCXc.557G>C (p.Arg186Pro)
c.800G>C (p.Arg267Pro)
c.775G>C
n.797G>C
Xg.111401138C>TCA171995DCXc.557G>A (p.Arg186His)
c.800G>A (p.Arg267His)
c.775G>A
n.797G>A
 ClinVar dbSNP ExAC
Xg.111401139G>ACA171992DCXc.556C>T (p.Arg186Cys)
c.799C>T (p.Arg267Cys)
c.774C>T
n.796C>T
 ClinVar dbSNP COSMIC COSMIC
Xg.111401139G>CCA414246106DCXc.556C>G (p.Arg186Gly)
c.799C>G (p.Arg267Gly)
c.774C>G
n.796C>G
Xg.111401139G=CA2451697236DCXc.556C= (p.Arg186=)
c.799C= (p.Arg267=)
c.774C=
n.796C=
Xg.111401139G>TCA414246105DCXc.556C>A (p.Arg186Ser)
c.799C>A (p.Arg267Ser)
c.774C>A
n.796C>A
Xg.111401139_111401142delinsGGATCA2451697237DCXc.553_556delinsATCC (p.Ile185=)
c.796_799delinsATCC (p.Ile266=)
c.771_774delinsATCC
n.793_796delinsATCC
Xg.111401140G>ACA518114021DCXc.555C>T (p.Ile185=)
c.798C>T (p.Ile266=)
c.773C>T
n.795C>T
 dbSNP gnomAD v2 gnomAD v4
Xg.111401140G>CCA414246107DCXc.555C>G (p.Ile185Met)
c.798C>G (p.Ile266Met)
c.773C>G
n.795C>G
Xg.111401140G=CA2451697239DCXc.555C= (p.Ile185=)
c.798C= (p.Ile266=)
c.773C=
n.795C=
Xg.111401140G>TCA518114020DCXc.555C>A (p.Ile185=)
c.798C>A (p.Ile266=)
c.773C>A
n.795C>A
Xg.111401144_111401146delCA2451697238DCXc.553_555del (p.Ile185del)
c.796_798del (p.Ile266del)
c.771_773del
n.793_795del
 dbSNP
Xg.111401141A>CCA414246108DCXc.554T>G (p.Ile185Ser)
c.797T>G (p.Ile266Ser)
c.772T>G
n.794T>G
Xg.111401141A>GCA414246109DCXc.554T>C (p.Ile185Thr)
c.797T>C (p.Ile266Thr)
c.772T>C
n.794T>C
Xg.111401141A>TCA414246110DCXc.554T>A (p.Ile185Asn)
c.797T>A (p.Ile266Asn)
c.772T>A
n.794T>A
Xg.111401142T>ACA414246111DCXc.553A>T (p.Ile185Phe)
c.796A>T (p.Ile266Phe)
c.771A>T
n.793A>T
Xg.111401142T>CCA414246112DCXc.553A>G (p.Ile185Val)
c.796A>G (p.Ile266Val)
c.771A>G
n.793A>G
Xg.111401142T>GCA414246113DCXc.553A>C (p.Ile185Leu)
c.796A>C (p.Ile266Leu)
c.771A>C
n.793A>C
Xg.111401143G>ACA518114022DCXc.552C>T (p.Ile184=)
c.795C>T (p.Ile265=)
c.770C>T
n.792C>T
Xg.111401143G>CCA414246114DCXc.552C>G (p.Ile184Met)
c.795C>G (p.Ile265Met)
c.770C>G
n.792C>G
Xg.111401143G>TCA518114023DCXc.552C>A (p.Ile184=)
c.795C>A (p.Ile265=)
c.770C>A
n.792C>A
Xg.111401144A=CA2451697240DCXc.551T= (p.Ile184=)
c.794T= (p.Ile265=)
c.769T=
n.791T=
Xg.111401144A>CCA414246115DCXc.551T>G (p.Ile184Ser)
c.794T>G (p.Ile265Ser)
c.769T>G
n.791T>G
Xg.111401144A>GCA414246116DCXc.551T>C (p.Ile184Thr)
c.794T>C (p.Ile265Thr)
c.769T>C
n.791T>C
Xg.111401144A>TCA171989DCXc.551T>A (p.Ile184Asn)
c.794T>A (p.Ile265Asn)
c.769T>A
n.791T>A
 ClinVar dbSNP
Xg.111401145T>ACA414246119DCXc.550A>T (p.Ile184Phe)
c.793A>T (p.Ile265Phe)
c.768A>T
n.790A>T

Number of alleles fetched