Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154993041T>ACA414919589F8c.496A>T (p.Met166Leu)
c.*282A>T (n.*282A>T)
c.391A>T (p.Met131Leu)
c.478A>T (p.Met160Leu)
Xg.154993041T>CCA414919591F8c.496A>G (p.Met166Val)
c.*282A>G (n.*282A>G)
c.391A>G (p.Met131Val)
c.478A>G (p.Met160Val)
Xg.154993041T>GCA414919590F8c.496A>C (p.Met166Leu)
c.*282A>C (n.*282A>C)
c.391A>C (p.Met131Leu)
c.478A>C (p.Met160Leu)
Xg.154993042T>ACA519372619F8c.495A>T (p.Pro165=)
c.*281A>T (n.*281A>T)
c.390A>T (p.Pro130=)
c.477A>T (p.Pro159=)
Xg.154993042T>CCA519372625F8c.495A>G (p.Pro165=)
c.*281A>G (n.*281A>G)
c.390A>G (p.Pro130=)
c.477A>G (p.Pro159=)
dbSNP gnomAD v2 gnomAD v4
Xg.154993042T>GCA519372626F8c.495A>C (p.Pro165=)
c.*281A>C (n.*281A>C)
c.390A>C (p.Pro130=)
c.477A>C (p.Pro159=)
Xg.154993042T=CA2466856532F8c.495A= (p.Pro165=)
c.*281A= (n.*281A=)
c.390A= (p.Pro130=)
c.477A= (p.Pro159=)
Xg.154993043G>ACA414919592F8c.494C>T (p.Pro165Leu)
c.*280C>T (n.*280C>T)
c.389C>T (p.Pro130Leu)
c.476C>T (p.Pro159Leu)
dbSNP
Xg.154993043G>CCA414919593F8c.494C>G (p.Pro165Arg)
c.*280C>G (n.*280C>G)
c.389C>G (p.Pro130Arg)
c.476C>G (p.Pro159Arg)
Xg.154993043G=CA2466856533F8c.494C= (p.Pro165=)
c.*280C= (n.*280C=)
c.389C= (p.Pro130=)
c.476C= (p.Pro159=)
Xg.154993043G>TCA414919594F8c.494C>A (p.Pro165Gln)
c.*280C>A (n.*280C>A)
c.389C>A (p.Pro130Gln)
c.476C>A (p.Pro159Gln)
Xg.154993044delCA2499226520F8c.494del (p.Pro165GlnfsTer20)
c.*280del (n.*280del)
c.389del (p.Pro130GlnfsTer20)
c.476del (p.Pro159GlnfsTer?)
ClinVar dbSNP
Xg.154993044G>ACA255065F8c.493C>T (p.Pro165Ser)
c.*279C>T (n.*279C>T)
c.388C>T (p.Pro130Ser)
c.475C>T (p.Pro159Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.154993044G>CCA414919595F8c.493C>G (p.Pro165Ala)
c.*279C>G (n.*279C>G)
c.388C>G (p.Pro130Ala)
c.475C>G (p.Pro159Ala)
Xg.154993044G=CA2466856534F8c.493C= (p.Pro165=)
c.*279C= (n.*279C=)
c.388C= (p.Pro130=)
c.475C= (p.Pro159=)
Xg.154993044G>TCA414919596F8c.493C>A (p.Pro165Thr)
c.*279C>A (n.*279C>A)
c.388C>A (p.Pro130Thr)
c.475C>A (p.Pro159Thr)
Xg.154993045A>CCA519372649F8c.492T>G (p.Gly164=)
c.*278T>G (n.*278T>G)
c.387T>G (p.Gly129=)
c.474T>G (p.Gly158=)
Xg.154993045A>GCA519372655F8c.492T>C (p.Gly164=)
c.*278T>C (n.*278T>C)
c.387T>C (p.Gly129=)
c.474T>C (p.Gly158=)
Xg.154993045A>TCA519372658F8c.492T>A (p.Gly164=)
c.*278T>A (n.*278T>A)
c.387T>A (p.Gly129=)
c.474T>A (p.Gly158=)
Xg.154993046C>ACA255064F8c.491G>T (p.Gly164Val)
c.*277G>T (n.*277G>T)
c.386G>T (p.Gly129Val)
c.473G>T (p.Gly158Val)
ClinVar dbSNP
Xg.154993046C=CA2466856535F8c.491G= (p.Gly164=)
c.*277G= (n.*277G=)
c.386G= (p.Gly129=)
c.473G= (p.Gly158=)
Xg.154993046C>GCA414919597F8c.491G>C (p.Gly164Ala)
c.*277G>C (n.*277G>C)
c.386G>C (p.Gly129Ala)
c.473G>C (p.Gly158Ala)
Xg.154993046C>TCA414919598F8c.491G>A (p.Gly164Asp)
c.*277G>A (n.*277G>A)
c.386G>A (p.Gly129Asp)
c.473G>A (p.Gly158Asp)
dbSNP gnomAD v2
Xg.154993047C>ACA414919600F8c.490G>T (p.Gly164Cys)
c.*276G>T (n.*276G>T)
c.385G>T (p.Gly129Cys)
c.472G>T (p.Gly158Cys)
dbSNP
Xg.154993047C=CA2466856536F8c.490G= (p.Gly164=)
c.*276G= (n.*276G=)
c.385G= (p.Gly129=)
c.472G= (p.Gly158=)
Xg.154993047C>GCA414919601F8c.490G>C (p.Gly164Arg)
c.*276G>C (n.*276G>C)
c.385G>C (p.Gly129Arg)
c.472G>C (p.Gly158Arg)
Xg.154993047C>TCA414919599F8c.490G>A (p.Gly164Ser)
c.*276G>A (n.*276G>A)
c.385G>A (p.Gly129Ser)
c.472G>A (p.Gly158Ser)
dbSNP
Xg.154993048A>CCA414919603F8c.489T>G (p.Asn163Lys)
c.*275T>G (n.*275T>G)
c.384T>G (p.Asn128Lys)
c.471T>G (p.Asn157Lys)
Xg.154993048A>GCA519372683F8c.489T>C (p.Asn163=)
c.*275T>C (n.*275T>C)
c.384T>C (p.Asn128=)
c.471T>C (p.Asn157=)
Xg.154993048A>TCA414919602F8c.489T>A (p.Asn163Lys)
c.*275T>A (n.*275T>A)
c.384T>A (p.Asn128Lys)
c.471T>A (p.Asn157Lys)
Xg.154993048_154993049delinsATCA2466856537F8c.488_489delinsAT (p.Asn163=)
c.*274_*275delinsAT (n.*274_*275delinsAT)
c.383_384delinsAT (p.Asn128=)
c.470_471delinsAT (p.Asn157=)
Xg.154993049T>ACA414919604F8c.488A>T (p.Asn163Ile)
c.*274A>T (n.*274A>T)
c.383A>T (p.Asn128Ile)
c.470A>T (p.Asn157Ile)
Xg.154993049T>CCA414919605F8c.488A>G (p.Asn163Ser)
c.*274A>G (n.*274A>G)
c.383A>G (p.Asn128Ser)
c.470A>G (p.Asn157Ser)
Xg.154993049T>GCA414919606F8c.488A>C (p.Asn163Thr)
c.*274A>C (n.*274A>C)
c.383A>C (p.Asn128Thr)
c.470A>C (p.Asn157Thr)
Xg.154993050delCA873356039F8c.488del (p.Asn163MetfsTer22)
c.*274del (n.*274del)
c.383del (p.Asn128MetfsTer22)
c.470del (p.Asn157MetfsTer?)
dbSNP
Xg.154993050T>ACA414919607F8c.487A>T (p.Asn163Tyr)
c.*273A>T (n.*273A>T)
c.382A>T (p.Asn128Tyr)
c.469A>T (p.Asn157Tyr)
Xg.154993050T>CCA414919608F8c.487A>G (p.Asn163Asp)
c.*273A>G (n.*273A>G)
c.382A>G (p.Asn128Asp)
c.469A>G (p.Asn157Asp)
Xg.154993050T>GCA414919609F8c.487A>C (p.Asn163His)
c.*273A>C (n.*273A>C)
c.382A>C (p.Asn128His)
c.469A>C (p.Asn157His)
Xg.154993053_154993054delCA2695238456F8c.486_487del (p.Asn163TrpfsTer6)
c.*272_*273del (n.*272_*273del)
c.381_382del (p.Asn128TrpfsTer6)
c.468_469del (p.Asn157TrpfsTer6)
Xg.154993051C>ACA414919610F8c.486G>T (p.Glu162Asp)
c.*272G>T (n.*272G>T)
c.381G>T (p.Glu127Asp)
c.468G>T (p.Glu156Asp)
Xg.154993051C=CA2466856538F8c.486G= (p.Glu162=)
c.*272G= (n.*272G=)
c.381G= (p.Glu127=)
c.468G= (p.Glu156=)
Xg.154993051C>GCA414919611F8c.486G>C (p.Glu162Asp)
c.*272G>C (n.*272G>C)
c.381G>C (p.Glu127Asp)
c.468G>C (p.Glu156Asp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154993051C>TCA519372694F8c.486G>A (p.Glu162=)
c.*272G>A (n.*272G>A)
c.381G>A (p.Glu127=)
c.468G>A (p.Glu156=)
Xg.154993052T>ACA414919612F8c.485A>T (p.Glu162Val)
c.*271A>T (n.*271A>T)
c.380A>T (p.Glu127Val)
c.467A>T (p.Glu156Val)
Xg.154993052T>CCA414919613F8c.485A>G (p.Glu162Gly)
c.*271A>G (n.*271A>G)
c.380A>G (p.Glu127Gly)
c.467A>G (p.Glu156Gly)
Xg.154993052T>GCA414919614F8c.485A>C (p.Glu162Ala)
c.*271A>C (n.*271A>C)
c.380A>C (p.Glu127Ala)
c.467A>C (p.Glu156Ala)
Xg.154993053C>ACA414919617F8c.484G>T (p.Glu162Ter)
c.*270G>T (n.*270G>T)
c.379G>T (p.Glu127Ter)
c.466G>T (p.Glu156Ter)
Xg.154993053C>GCA414919615F8c.484G>C (p.Glu162Gln)
c.*270G>C (n.*270G>C)
c.379G>C (p.Glu127Gln)
c.466G>C (p.Glu156Gln)
Xg.154993053C>TCA414919616F8c.484G>A (p.Glu162Lys)
c.*270G>A (n.*270G>A)
c.379G>A (p.Glu127Lys)
c.466G>A (p.Glu156Lys)
Xg.154993054T>ACA414919618F8c.483A>T (p.Lys161Asn)
c.*269A>T (n.*269A>T)
c.378A>T (p.Lys126Asn)
c.465A>T (p.Lys155Asn)

Number of alleles fetched