Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154969329_154969448delCA2695237407F8c.893_1009+3del
c.*769_*885+3del
c.788_904+3del
Xg.154969383_154969391delCA2695237430F8c.950_958del (p.Thr317_Leu319del)
c.*826_*834del (n.*826_*834del)
c.845_853del (p.Thr282_Leu284del)
Xg.154969391_154969394delCA2695237437F8c.948_951del (p.Gln316HisfsTer3)
c.*824_*827del (n.*824_*827del)
c.843_846del (p.Gln281HisfsTer3)
Xg.154969391T>ACA414917801F8c.949A>T (p.Thr317Ser)
c.*825A>T (n.*825A>T)
c.844A>T (p.Thr282Ser)
Xg.154969391T>CCA414917799F8c.949A>G (p.Thr317Ala)
c.*825A>G (n.*825A>G)
c.844A>G (p.Thr282Ala)
Xg.154969391T>GCA414917800F8c.949A>C (p.Thr317Pro)
c.*825A>C (n.*825A>C)
c.844A>C (p.Thr282Pro)
Xg.154969393dupCA2695237438F8c.949dup (p.Thr317AsnfsTer21)
c.*825dup (n.*825dup)
c.844dup (p.Thr282AsnfsTer21)
Xg.154969392T>ACA414917802F8c.948A>T (p.Gln316His)
c.*824A>T (n.*824A>T)
c.843A>T (p.Gln281His)
Xg.154969392T>CCA519367230F8c.948A>G (p.Gln316=)
c.*824A>G (n.*824A>G)
c.843A>G (p.Gln281=)
Xg.154969392T>GCA414917803F8c.948A>C (p.Gln316His)
c.*824A>C (n.*824A>C)
c.843A>C (p.Gln281His)
Xg.154969393T>ACA414917804F8c.947A>T (p.Gln316Leu)
c.*823A>T (n.*823A>T)
c.842A>T (p.Gln281Leu)
Xg.154969393T>CCA414917807F8c.947A>G (p.Gln316Arg)
c.*823A>G (n.*823A>G)
c.842A>G (p.Gln281Arg)
Xg.154969393T>GCA414917809F8c.947A>C (p.Gln316Pro)
c.*823A>C (n.*823A>C)
c.842A>C (p.Gln281Pro)
Xg.154969394G>ACA414917812F8c.946C>T (p.Gln316Ter)
c.*822C>T (n.*822C>T)
c.841C>T (p.Gln281Ter)
Xg.154969394G>CCA414917813F8c.946C>G (p.Gln316Glu)
c.*822C>G (n.*822C>G)
c.841C>G (p.Gln281Glu)
 gnomAD v4
Xg.154969394G>TCA414917815F8c.946C>A (p.Gln316Lys)
c.*822C>A (n.*822C>A)
c.841C>A (p.Gln281Lys)
Xg.154969395A>CCA519367239F8c.945T>G (p.Ala315=)
c.*821T>G (n.*821T>G)
c.840T>G (p.Ala280=)
Xg.154969395A>GCA519367242F8c.945T>C (p.Ala315=)
c.*821T>C (n.*821T>C)
c.840T>C (p.Ala280=)
Xg.154969395A>TCA519367243F8c.945T>A (p.Ala315=)
c.*821T>A (n.*821T>A)
c.840T>A (p.Ala280=)
Xg.154969397_154969399dupCA2695237441F8c.943_945dup (p.Ala315_Gln316insAla)
c.*819_*821dup (n.*819_*821dup)
c.838_840dup (p.Ala280_Gln281insAla)
Xg.154969396G>ACA414917816F8c.944C>T (p.Ala315Val)
c.*820C>T (n.*820C>T)
c.839C>T (p.Ala280Val)
 gnomAD v4
Xg.154969396G>CCA414917817F8c.944C>G (p.Ala315Gly)
c.*820C>G (n.*820C>G)
c.839C>G (p.Ala280Gly)
 ClinVar dbSNP
Xg.154969396G>TCA414917818F8c.944C>A (p.Ala315Asp)
c.*820C>A (n.*820C>A)
c.839C>A (p.Ala280Asp)
Xg.154969396_154969397delinsGCCA2466848985F8c.943_944delinsGC (p.Ala315=)
c.*819_*820delinsGC (n.*819_*820delinsGC)
c.838_839delinsGC (p.Ala280=)
Xg.154969397delCA255085F8c.943del (p.Ala315LeufsTer5)
c.*819del (n.*819del)
c.838del (p.Ala280LeufsTer5)
 ClinVar dbSNP
Xg.154969397C>ACA414917823F8c.943G>T (p.Ala315Ser)
c.*819G>T (n.*819G>T)
c.838G>T (p.Ala280Ser)
Xg.154969397C>GCA414917825F8c.943G>C (p.Ala315Pro)
c.*819G>C (n.*819G>C)
c.838G>C (p.Ala280Pro)
Xg.154969397C>TCA414917820F8c.943G>A (p.Ala315Thr)
c.*819G>A (n.*819G>A)
c.838G>A (p.Ala280Thr)
Xg.154969398delCA2695237443F8c.942del (p.Ala315LeufsTer5)
c.*818del (n.*818del)
c.837del (p.Ala280LeufsTer5)
Xg.154969398A>CCA519367246F8c.942T>G (p.Thr314=)
c.*818T>G (n.*818T>G)
c.837T>G (p.Thr279=)
Xg.154969398A>GCA519367247F8c.942T>C (p.Thr314=)
c.*818T>C (n.*818T>C)
c.837T>C (p.Thr279=)
Xg.154969398A>TCA519367248F8c.942T>A (p.Thr314=)
c.*818T>A (n.*818T>A)
c.837T>A (p.Thr279=)
Xg.154969399G>ACA414917829F8c.941C>T (p.Thr314Ile)
c.*817C>T (n.*817C>T)
c.836C>T (p.Thr279Ile)
Xg.154969399G>CCA414917827F8c.941C>G (p.Thr314Ser)
c.*817C>G (n.*817C>G)
c.836C>G (p.Thr279Ser)
Xg.154969399G=CA2466848986F8c.941C= (p.Thr314=)
c.*817C= (n.*817C=)
c.836C= (p.Thr279=)
Xg.154969399G>TCA414917831F8c.941C>A (p.Thr314Asn)
c.*817C>A (n.*817C>A)
c.836C>A (p.Thr279Asn)
 dbSNP
Xg.154969400T>ACA414917833F8c.940A>T (p.Thr314Ser)
c.*816A>T (n.*816A>T)
c.835A>T (p.Thr279Ser)
Xg.154969400T>CCA255084F8c.940A>G (p.Thr314Ala)
c.*816A>G (n.*816A>G)
c.835A>G (p.Thr279Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.154969400T>GCA414917836F8c.940A>C (p.Thr314Pro)
c.*816A>C (n.*816A>C)
c.835A>C (p.Thr279Pro)
 ClinVar dbSNP
Xg.154969400T=CA2466848987F8c.940A= (p.Thr314=)
c.*816A= (n.*816A=)
c.835A= (p.Thr279=)
Xg.154969401A>CCA519367261F8c.939T>G (p.Leu313=)
c.*815T>G (n.*815T>G)
c.834T>G (p.Leu278=)
Xg.154969401A>GCA519367264F8c.939T>C (p.Leu313=)
c.*815T>C (n.*815T>C)
c.834T>C (p.Leu278=)
Xg.154969401A>TCA519367266F8c.939T>A (p.Leu313=)
c.*815T>A (n.*815T>A)
c.834T>A (p.Leu278=)
Xg.154969403_154969406delCA2695237445F8c.936_939del (p.Phe312LeufsTer7)
c.*812_*815del (n.*812_*815del)
c.831_834del (p.Phe277LeufsTer7)
Xg.154969402A>CCA414917837F8c.938T>G (p.Leu313Arg)
c.*814T>G (n.*814T>G)
c.833T>G (p.Leu278Arg)
Xg.154969402A>GCA414917839F8c.938T>C (p.Leu313Pro)
c.*814T>C (n.*814T>C)
c.833T>C (p.Leu278Pro)
Xg.154969402A>TCA414917841F8c.938T>A (p.Leu313His)
c.*814T>A (n.*814T>A)
c.833T>A (p.Leu278His)
Xg.154969403G>ACA414917843F8c.937C>T (p.Leu313Phe)
c.*813C>T (n.*813C>T)
c.832C>T (p.Leu278Phe)
 COSMIC COSMIC
Xg.154969403G>CCA414917845F8c.937C>G (p.Leu313Val)
c.*813C>G (n.*813C>G)
c.832C>G (p.Leu278Val)
Xg.154969403G>TCA414917847F8c.937C>A (p.Leu313Ile)
c.*813C>A (n.*813C>A)
c.832C>A (p.Leu278Ile)

Number of alleles fetched