Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.1496222_1496257delCA2583000648REEP6c.349-63_349-28del (n.349-63_349-28del)
c.165-63_165-28del
c.133-63_133-28del (n.133-63_133-28del)
 gnomAD v4
19g.1496226_1496227delCA2583000652REEP6c.349-59_349-58del (n.349-59_349-58del)
c.165-59_165-58del
c.133-59_133-58del (n.133-59_133-58del)
 gnomAD v4
19g.1496226T>CCA2317756553REEP6c.349-59T>C (n.349-59T>C)
c.165-59T>C
c.133-59T>C (n.133-59T>C)
 dbSNP gnomAD v4
19g.1496226T=CA2317756552REEP6c.349-59T= (n.349-59T=)
c.165-59T=
c.133-59T= (n.133-59T=)
19g.1496227C>ACA2583000658REEP6c.349-58C>A (n.349-58C>A)
c.165-58C>A
c.133-58C>A (n.133-58C>A)
 gnomAD v4
19g.1496230delCA2583000657REEP6c.349-55del (n.349-55del)
c.165-55del
c.133-55del (n.133-55del)
 gnomAD v4
19g.1496228C>ACA2583000659REEP6c.349-57C>A (n.349-57C>A)
c.165-57C>A
c.133-57C>A (n.133-57C>A)
 gnomAD v4
19g.1496228C=CA2317756554REEP6c.349-57C= (n.349-57C=)
c.165-57C=
c.133-57C= (n.133-57C=)
19g.1496228C>GCA992530725REEP6c.349-57C>G (n.349-57C>G)
c.165-57C>G
c.133-57C>G (n.133-57C>G)
 gnomAD v3 gnomAD v4
19g.1496228C>TCA304100380REEP6c.349-57C>T (n.349-57C>T)
c.165-57C>T
c.133-57C>T (n.133-57C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.1496229C>ACA2583000660REEP6c.349-56C>A (n.349-56C>A)
c.165-56C>A
c.133-56C>A (n.133-56C>A)
 gnomAD v4
19g.1496229C>GCA2583000661REEP6c.349-56C>G (n.349-56C>G)
c.165-56C>G
c.133-56C>G (n.133-56C>G)
 gnomAD v4
19g.1496230C>ACA2583000662REEP6c.349-55C>A (n.349-55C>A)
c.165-55C>A
c.133-55C>A (n.133-55C>A)
 gnomAD v4
19g.1496230C=CA2317756555REEP6c.349-55C= (n.349-55C=)
c.165-55C=
c.133-55C= (n.133-55C=)
19g.1496230C>TCA304100383REEP6c.349-55C>T (n.349-55C>T)
c.165-55C>T
c.133-55C>T (n.133-55C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1496230_1496231insGTATCATTAAAACA2583000663REEP6c.349-55_349-54insGTATCATTAAAA (n.349-55_349-54insGTATCATTAAAA)
c.165-55_165-54insGTATCATTAAAA
c.133-55_133-54insGTATCATTAAAA (n.133-55_133-54insGTATCATTAAAA)
 gnomAD v4
19g.1496231A=CA2317756556REEP6c.349-54A= (n.349-54A=)
c.165-54A=
c.133-54A= (n.133-54A=)
19g.1496231A>CCA2583000664REEP6c.349-54A>C (n.349-54A>C)
c.165-54A>C
c.133-54A>C (n.133-54A>C)
 gnomAD v4
19g.1496231A>GCA2317756557REEP6c.349-54A>G (n.349-54A>G)
c.165-54A>G
c.133-54A>G (n.133-54A>G)
 dbSNP gnomAD v4
19g.1496232C>ACA992530726REEP6c.349-53C>A (n.349-53C>A)
c.165-53C>A
c.133-53C>A (n.133-53C>A)
 gnomAD v3 gnomAD v4
19g.1496232C>GCA2583000665REEP6c.349-53C>G (n.349-53C>G)
c.165-53C>G
c.133-53C>G (n.133-53C>G)
 gnomAD v4
19g.1496232C>TCA2583000666REEP6c.349-53C>T (n.349-53C>T)
c.165-53C>T
c.133-53C>T (n.133-53C>T)
 gnomAD v4
19g.1496233C>ACA2583000667REEP6c.349-52C>A (n.349-52C>A)
c.165-52C>A
c.133-52C>A (n.133-52C>A)
 gnomAD v4
19g.1496233C>TCA2583000668REEP6c.349-52C>T (n.349-52C>T)
c.165-52C>T
c.133-52C>T (n.133-52C>T)
 gnomAD v4
19g.1496234A=CA2317756558REEP6c.349-51A= (n.349-51A=)
c.165-51A=
c.133-51A= (n.133-51A=)
19g.1496234A>GCA631049488REEP6c.349-51A>G (n.349-51A>G)
c.165-51A>G
c.133-51A>G (n.133-51A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1496234_1496236delinsAGGCA2317756559REEP6c.349-51_349-49delinsAGG (n.349-51_349-49delinsAGG)
c.165-51_165-49delinsAGG
c.133-51_133-49delinsAGG (n.133-51_133-49delinsAGG)
19g.1496235G=CA2317756560REEP6c.349-50G= (n.349-50G=)
c.165-50G=
c.133-50G= (n.133-50G=)
19g.1496235G>TCA2583000670REEP6c.349-50G>T (n.349-50G>T)
c.165-50G>T
c.133-50G>T (n.133-50G>T)
 gnomAD v4
19g.1496237_1496238dupCA304100389REEP6c.349-48_349-47dup (n.349-48_349-47dup)
c.165-48_165-47dup
c.133-48_133-47dup (n.133-48_133-47dup)
19g.1496238delCA2583000669REEP6c.349-47del (n.349-47del)
c.165-47del
c.133-47del (n.133-47del)
 gnomAD v4
19g.1496237_1496238delCA9047531REEP6c.349-48_349-47del (n.349-48_349-47del)
c.165-48_165-47del
c.133-48_133-47del (n.133-48_133-47del)
 dbSNP ExAC gnomAD v2
19g.1496236G>ACA304100396REEP6c.349-49G>A (n.349-49G>A)
c.165-49G>A
c.133-49G>A (n.133-49G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1496236G=CA2317756561REEP6c.349-49G= (n.349-49G=)
c.165-49G=
c.133-49G= (n.133-49G=)
19g.1496236G>TCA2583000671REEP6c.349-49G>T (n.349-49G>T)
c.165-49G>T
c.133-49G>T (n.133-49G>T)
 gnomAD v4
19g.1496236_1496240dupCA9047532REEP6c.349-49_349-45dup (n.349-49_349-45dup)
c.165-49_165-45dup
c.133-49_133-45dup (n.133-49_133-45dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1496237G>ACA2583000672REEP6c.349-48G>A (n.349-48G>A)
c.165-48G>A
c.133-48G>A (n.133-48G>A)
 gnomAD v4
19g.1496237G>TCA2583000673REEP6c.349-48G>T (n.349-48G>T)
c.165-48G>T
c.133-48G>T (n.133-48G>T)
 gnomAD v4
19g.1496238G>ACA783575928REEP6c.349-47G>A (n.349-47G>A)
c.165-47G>A
c.133-47G>A (n.133-47G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.1496238G=CA2317756563REEP6c.349-47G= (n.349-47G=)
c.165-47G=
c.133-47G= (n.133-47G=)
19g.1496238G>TCA2583000674REEP6c.349-47G>T (n.349-47G>T)
c.165-47G>T
c.133-47G>T (n.133-47G>T)
 gnomAD v4
19g.1496238_1496240delinsGCACA2317756562REEP6c.349-47_349-45delinsGCA (n.349-47_349-45delinsGCA)
c.165-47_165-45delinsGCA
c.133-47_133-45delinsGCA (n.133-47_133-45delinsGCA)
19g.1496239C>ACA2583000675REEP6c.349-46C>A (n.349-46C>A)
c.165-46C>A
c.133-46C>A (n.133-46C>A)
 gnomAD v4
19g.1496239C>GCA2583000676REEP6c.349-46C>G (n.349-46C>G)
c.165-46C>G
c.133-46C>G (n.133-46C>G)
 gnomAD v4
19g.1496239C>TCA2583000677REEP6c.349-46C>T (n.349-46C>T)
c.165-46C>T
c.133-46C>T (n.133-46C>T)
 gnomAD v4
19g.1496239_1496241delCA2813259375REEP6c.349-46_349-44del (n.349-46_349-44del)
c.165-46_165-44del
c.133-46_133-44del (n.133-46_133-44del)
19g.1496241_1496242delCA9047533REEP6c.349-44_349-43del (n.349-44_349-43del)
c.165-44_165-43del
c.133-44_133-43del (n.133-44_133-43del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1496240A>CCA2583000678REEP6c.349-45A>C (n.349-45A>C)
c.165-45A>C
c.133-45A>C (n.133-45A>C)
 gnomAD v4
19g.1496240A>GCA2583000679REEP6c.349-45A>G (n.349-45A>G)
c.165-45A>G
c.133-45A>G (n.133-45A>G)
 gnomAD v4
19g.1496240A>TCA2583000680REEP6c.349-45A>T (n.349-45A>T)
c.165-45A>T
c.133-45A>T (n.133-45A>T)
 gnomAD v4
19g.1496241C>ACA2583000682REEP6c.349-44C>A (n.349-44C>A)
c.165-44C>A
c.133-44C>A (n.133-44C>A)
 gnomAD v4
19g.1496241C>TCA2583000681REEP6c.349-44C>T (n.349-44C>T)
c.165-44C>T
c.133-44C>T (n.133-44C>T)
 gnomAD v4
19g.1496242A>CCA2583000683REEP6c.349-43A>C (n.349-43A>C)
c.165-43A>C
c.133-43A>C (n.133-43A>C)
 gnomAD v4
19g.1496242A>GCA2583000684REEP6c.349-43A>G (n.349-43A>G)
c.165-43A>G
c.133-43A>G (n.133-43A>G)
 gnomAD v4
19g.1496243G>ACA2583000685REEP6c.349-42G>A (n.349-42G>A)
c.165-42G>A
c.133-42G>A (n.133-42G>A)
 gnomAD v4
19g.1496243G>CCA9047534REEP6c.349-42G>C (n.349-42G>C)
c.165-42G>C
c.133-42G>C (n.133-42G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.1496243G=CA2317756564REEP6c.349-42G= (n.349-42G=)
c.165-42G=
c.133-42G= (n.133-42G=)
19g.1496243G>TCA2583000686REEP6c.349-42G>T (n.349-42G>T)
c.165-42G>T
c.133-42G>T (n.133-42G>T)
 gnomAD v4
19g.1496244A>GCA2583000687REEP6c.349-41A>G (n.349-41A>G)
c.165-41A>G
c.133-41A>G (n.133-41A>G)
 gnomAD v4
19g.1496245G>ACA631049489REEP6c.349-40G>A (n.349-40G>A)
c.165-40G>A
c.133-40G>A (n.133-40G>A)
 dbSNP gnomAD v2
19g.1496245G=CA2317756565REEP6c.349-40G= (n.349-40G=)
c.165-40G=
c.133-40G= (n.133-40G=)
19g.1496245G>TCA2583000688REEP6c.349-40G>T (n.349-40G>T)
c.165-40G>T
c.133-40G>T (n.133-40G>T)
 gnomAD v4
19g.1496246C>ACA2583000689REEP6c.349-39C>A (n.349-39C>A)
c.165-39C>A
c.133-39C>A (n.133-39C>A)
 gnomAD v4
19g.1496246C>GCA2583000690REEP6c.349-39C>G (n.349-39C>G)
c.165-39C>G
c.133-39C>G (n.133-39C>G)
 gnomAD v4
19g.1496246C>TCA2583000691REEP6c.349-39C>T (n.349-39C>T)
c.165-39C>T
c.133-39C>T (n.133-39C>T)
 gnomAD v4
19g.1496247T>CCA9047535REEP6c.349-38T>C (n.349-38T>C)
c.165-38T>C
c.133-38T>C (n.133-38T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.1496247T=CA2317756566REEP6c.349-38T= (n.349-38T=)
c.165-38T=
c.133-38T= (n.133-38T=)
19g.1496248G>ACA2317756568REEP6c.349-37G>A (n.349-37G>A)
c.165-37G>A
c.133-37G>A (n.133-37G>A)
 dbSNP gnomAD v4
19g.1496248G=CA2317756567REEP6c.349-37G= (n.349-37G=)
c.165-37G=
c.133-37G= (n.133-37G=)
19g.1496248G>TCA2576550655REEP6c.349-37G>T (n.349-37G>T)
c.165-37G>T
c.133-37G>T (n.133-37G>T)
 gnomAD v4
19g.1496249_1496250delCA631049490REEP6c.349-36_349-35del (n.349-36_349-35del)
c.165-36_165-35del
c.133-36_133-35del (n.133-36_133-35del)
 gnomAD v2 gnomAD v4
19g.1496249G>ACA2576550656REEP6c.349-36G>A (n.349-36G>A)
c.165-36G>A
c.133-36G>A (n.133-36G>A)
19g.1496249G>TCA2583000692REEP6c.349-36G>T (n.349-36G>T)
c.165-36G>T
c.133-36G>T (n.133-36G>T)
 gnomAD v4
19g.1496250G>ACA2583000693REEP6c.349-35G>A (n.349-35G>A)
c.165-35G>A
c.133-35G>A (n.133-35G>A)
 gnomAD v4
19g.1496250G>TCA2583000694REEP6c.349-35G>T (n.349-35G>T)
c.165-35G>T
c.133-35G>T (n.133-35G>T)
 gnomAD v4
19g.1496251T>ACA783575940REEP6c.349-34T>A (n.349-34T>A)
c.165-34T>A
c.133-34T>A (n.133-34T>A)
 dbSNP
19g.1496251T>CCA9047536REEP6c.349-34T>C (n.349-34T>C)
c.165-34T>C
c.133-34T>C (n.133-34T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.1496251T=CA2317756569REEP6c.349-34T= (n.349-34T=)
c.165-34T=
c.133-34T= (n.133-34T=)
19g.1496252G=CA2317756570REEP6c.349-33G= (n.349-33G=)
c.165-33G=
c.133-33G= (n.133-33G=)
19g.1496252G>TCA2583000695REEP6c.349-33G>T (n.349-33G>T)
c.165-33G>T
c.133-33G>T (n.133-33G>T)
 gnomAD v4
19g.1496252_1496253insTAACTCCTCA631049491REEP6c.349-33_349-32insTAACTCCT (n.349-33_349-32insTAACTCCT)
c.165-33_165-32insTAACTCCT
c.133-33_133-32insTAACTCCT (n.133-33_133-32insTAACTCCT)
 dbSNP gnomAD v2 gnomAD v4
19g.1496253G>ACA2583000696REEP6c.349-32G>A (n.349-32G>A)
c.165-32G>A
c.133-32G>A (n.133-32G>A)
 gnomAD v4
19g.1496254G>ACA9047537REEP6c.349-31G>A (n.349-31G>A)
c.165-31G>A
c.133-31G>A (n.133-31G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.1496254G>CCA631049492REEP6c.349-31G>C (n.349-31G>C)
c.165-31G>C
c.133-31G>C (n.133-31G>C)
 dbSNP gnomAD v2 gnomAD v4
19g.1496254G=CA2317756571REEP6c.349-31G= (n.349-31G=)
c.165-31G=
c.133-31G= (n.133-31G=)
19g.1496254G>TCA2583000697REEP6c.349-31G>T (n.349-31G>T)
c.165-31G>T
c.133-31G>T (n.133-31G>T)
 gnomAD v4
19g.1496255C>ACA2583000698REEP6c.349-30C>A (n.349-30C>A)
c.165-30C>A
c.133-30C>A (n.133-30C>A)
 gnomAD v4
19g.1496255C>GCA2576550657REEP6c.349-30C>G (n.349-30C>G)
c.165-30C>G
c.133-30C>G (n.133-30C>G)
19g.1496255C>TCA2583000699REEP6c.349-30C>T (n.349-30C>T)
c.165-30C>T
c.133-30C>T (n.133-30C>T)
 gnomAD v4
19g.1496256C>GCA2583000700REEP6c.349-29C>G (n.349-29C>G)
c.165-29C>G
c.133-29C>G (n.133-29C>G)
 gnomAD v4
19g.1496256C>TCA2583000701REEP6c.349-29C>T (n.349-29C>T)
c.165-29C>T
c.133-29C>T (n.133-29C>T)
 gnomAD v4
19g.1496257C>ACA2583000702REEP6c.349-28C>A (n.349-28C>A)
c.165-28C>A
c.133-28C>A (n.133-28C>A)
 gnomAD v4
19g.1496257C=CA2317756572REEP6c.349-28C= (n.349-28C=)
c.165-28C=
c.133-28C= (n.133-28C=)
19g.1496257C>GCA9047539REEP6c.349-28C>G (n.349-28C>G)
c.165-28C>G
c.133-28C>G (n.133-28C>G)
 dbSNP ExAC gnomAD v4
19g.1496257C>TCA9047538REEP6c.349-28C>T (n.349-28C>T)
c.165-28C>T
c.133-28C>T (n.133-28C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1496258G>ACA9047540REEP6c.349-27G>A (n.349-27G>A)
c.165-27G>A
c.133-27G>A (n.133-27G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1496258G=CA2317756573REEP6c.349-27G= (n.349-27G=)
c.165-27G=
c.133-27G= (n.133-27G=)
19g.1496258G>TCA2583000703REEP6c.349-27G>T (n.349-27G>T)
c.165-27G>T
c.133-27G>T (n.133-27G>T)
 gnomAD v4
19g.1496259C>ACA2583000704REEP6c.349-26C>A (n.349-26C>A)
c.165-26C>A
c.133-26C>A (n.133-26C>A)
 gnomAD v4
19g.1496259C=CA2317756574REEP6c.349-26C= (n.349-26C=)
c.165-26C=
c.133-26C= (n.133-26C=)
19g.1496259C>TCA9047541REEP6c.349-26C>T (n.349-26C>T)
c.165-26C>T
c.133-26C>T (n.133-26C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1496260G>ACA9047542REEP6c.349-25G>A (n.349-25G>A)
c.165-25G>A
c.133-25G>A (n.133-25G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1496260G>CCA631049493REEP6c.349-25G>C (n.349-25G>C)
c.165-25G>C
c.133-25G>C (n.133-25G>C)
 dbSNP gnomAD v2 gnomAD v4
19g.1496260G=CA2317756575REEP6c.349-25G= (n.349-25G=)
c.165-25G=
c.133-25G= (n.133-25G=)
19g.1496260G>TCA304100428REEP6c.349-25G>T (n.349-25G>T)
c.165-25G>T
c.133-25G>T (n.133-25G>T)
 dbSNP gnomAD v4
19g.1496261T>CCA2583000705REEP6c.349-24T>C (n.349-24T>C)
c.165-24T>C
c.133-24T>C (n.133-24T>C)
 gnomAD v4
19g.1496262G>TCA2583000706REEP6c.349-23G>T (n.349-23G>T)
c.165-23G>T
c.133-23G>T (n.133-23G>T)
 gnomAD v4
19g.1496264A=CA2317756576REEP6c.349-21A= (n.349-21A=)
c.165-21A=
c.133-21A= (n.133-21A=)
19g.1496264A>CCA2576550658REEP6c.349-21A>C (n.349-21A>C)
c.165-21A>C
c.133-21A>C (n.133-21A>C)
 gnomAD v4
19g.1496264A>GCA9047543REEP6c.349-21A>G (n.349-21A>G)
c.165-21A>G
c.133-21A>G (n.133-21A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1496264A>TCA2581363087REEP6c.349-21A>T (n.349-21A>T)
c.165-21A>T
c.133-21A>T (n.133-21A>T)
 gnomAD v4
19g.1496265_1496266insTCA2583000708REEP6c.349-20_349-19insT (n.349-20_349-19insT)
c.165-20_165-19insT
c.133-20_133-19insT (n.133-20_133-19insT)
 gnomAD v4
19g.1496266C>ACA2583000707REEP6c.349-19C>A (n.349-19C>A)
c.165-19C>A
c.133-19C>A (n.133-19C>A)
 gnomAD v4
19g.1496266C=CA2317756578REEP6c.349-19C= (n.349-19C=)
c.165-19C=
c.133-19C= (n.133-19C=)
19g.1496266C>GCA2317756577REEP6c.349-19C>G (n.349-19C>G)
c.165-19C>G
c.133-19C>G (n.133-19C>G)
 dbSNP gnomAD v4
19g.1496266C>TCA9047544REEP6c.349-19C>T (n.349-19C>T)
c.165-19C>T
c.133-19C>T (n.133-19C>T)
 dbSNP ExAC gnomAD v3 gnomAD v4
19g.1496267T>GCA9047545REEP6c.349-18T>G (n.349-18T>G)
c.165-18T>G
c.133-18T>G (n.133-18T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1496267T=CA2317756579REEP6c.349-18T= (n.349-18T=)
c.165-18T=
c.133-18T= (n.133-18T=)
19g.1496268C>ACA304100443REEP6c.349-17C>A (n.349-17C>A)
c.165-17C>A
c.133-17C>A (n.133-17C>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.1496268C=CA2317756580REEP6c.349-17C= (n.349-17C=)
c.165-17C=
c.133-17C= (n.133-17C=)
19g.1496268C>GCA2583000709REEP6c.349-17C>G (n.349-17C>G)
c.165-17C>G
c.133-17C>G (n.133-17C>G)
 gnomAD v4
19g.1496268C>TCA631049494REEP6c.349-17C>T (n.349-17C>T)
c.165-17C>T
c.133-17C>T (n.133-17C>T)
 dbSNP gnomAD v2
19g.1496269C>ACA2583000710REEP6c.349-16C>A (n.349-16C>A)
c.165-16C>A
c.133-16C>A (n.133-16C>A)
 gnomAD v4
19g.1496269C>TCA2583000711REEP6c.349-16C>T (n.349-16C>T)
c.165-16C>T
c.133-16C>T (n.133-16C>T)
 gnomAD v4
19g.1496270T>CCA2583000712REEP6c.349-15T>C (n.349-15T>C)
c.165-15T>C
c.133-15T>C (n.133-15T>C)
 gnomAD v4
19g.1496270T>GCA631049495REEP6c.349-15T>G (n.349-15T>G)
c.165-15T>G
c.133-15T>G (n.133-15T>G)
 dbSNP gnomAD v2 gnomAD v4
19g.1496270T=CA2317756581REEP6c.349-15T= (n.349-15T=)
c.165-15T=
c.133-15T= (n.133-15T=)
19g.1496271G>ACA2583000713REEP6c.349-14G>A (n.349-14G>A)
c.165-14G>A
c.133-14G>A (n.133-14G>A)
 gnomAD v4
19g.1496271G>TCA2583000714REEP6c.349-14G>T (n.349-14G>T)
c.165-14G>T
c.133-14G>T (n.133-14G>T)
 gnomAD v4
19g.1496272C>ACA2583000716REEP6c.349-13C>A (n.349-13C>A)
c.165-13C>A
c.133-13C>A (n.133-13C>A)
 gnomAD v4
19g.1496272C=CA2317756582REEP6c.349-13C= (n.349-13C=)
c.165-13C=
c.133-13C= (n.133-13C=)
19g.1496272C>TCA9047546REEP6c.349-13C>T (n.349-13C>T)
c.165-13C>T
c.133-13C>T (n.133-13C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1496275delCA2583000715REEP6c.349-10del (n.349-10del)
c.165-10del
c.133-10del (n.133-10del)
 gnomAD v4
19g.1496273C>ACA631049496REEP6c.349-12C>A (n.349-12C>A)
c.165-12C>A
c.133-12C>A (n.133-12C>A)
 dbSNP gnomAD v2 gnomAD v4
19g.1496273C=CA2317756583REEP6c.349-12C= (n.349-12C=)
c.165-12C=
c.133-12C= (n.133-12C=)
19g.1496273C>TCA2317756584REEP6c.349-12C>T (n.349-12C>T)
c.165-12C>T
c.133-12C>T (n.133-12C>T)
 dbSNP gnomAD v4
19g.1496274C>ACA2583000717REEP6c.349-11C>A (n.349-11C>A)
c.165-11C>A
c.133-11C>A (n.133-11C>A)
 gnomAD v4
19g.1496274C=CA2317756585REEP6c.349-11C= (n.349-11C=)
c.165-11C=
c.133-11C= (n.133-11C=)
19g.1496274C>TCA631049497REEP6c.349-11C>T (n.349-11C>T)
c.165-11C>T
c.133-11C>T (n.133-11C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.1496275C=CA2317756586REEP6c.349-10C= (n.349-10C=)
c.165-10C=
c.133-10C= (n.133-10C=)
19g.1496275C>TCA9047547REEP6c.349-10C>T (n.349-10C>T)
c.165-10C>T
c.133-10C>T (n.133-10C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1496276G>ACA631049498REEP6c.349-9G>A (n.349-9G>A)
c.165-9G>A
c.133-9G>A (n.133-9G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1496276G>CCA2317756588REEP6c.349-9G>C (n.349-9G>C)
c.165-9G>C
c.133-9G>C (n.133-9G>C)
 ClinVar dbSNP gnomAD v4
19g.1496276G=CA2317756587REEP6c.349-9G= (n.349-9G=)
c.165-9G=
c.133-9G= (n.133-9G=)
19g.1496276G>TCA304100452REEP6c.349-9G>T (n.349-9G>T)
c.165-9G>T
c.133-9G>T (n.133-9G>T)
 dbSNP gnomAD v3 gnomAD v4
19g.1496277C>ACA2583000718REEP6c.349-8C>A (n.349-8C>A)
c.165-8C>A
c.133-8C>A (n.133-8C>A)
 gnomAD v4
19g.1496278C>ACA2583000719REEP6c.349-7C>A (n.349-7C>A)
c.165-7C>A
c.133-7C>A (n.133-7C>A)
 gnomAD v4
19g.1496278C=CA2317756589REEP6c.349-7C= (n.349-7C=)
c.165-7C=
c.133-7C= (n.133-7C=)
19g.1496278C>GCA9047548REEP6c.349-7C>G (n.349-7C>G)
c.165-7C>G
c.133-7C>G (n.133-7C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1496278C>TCA304100456REEP6c.349-7C>T (n.349-7C>T)
c.165-7C>T
c.133-7C>T (n.133-7C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1496279C>ACA2583000720REEP6c.349-6C>A (n.349-6C>A)
c.165-6C>A
c.133-6C>A (n.133-6C>A)
 gnomAD v4
19g.1496280T>CCA2583000721REEP6c.349-5T>C (n.349-5T>C)
c.165-5T>C
c.133-5T>C (n.133-5T>C)
 gnomAD v4
19g.1496281G>ACA783575976REEP6c.349-4G>A (n.349-4G>A)
c.165-4G>A
c.133-4G>A (n.133-4G>A)
 dbSNP gnomAD v4
19g.1496281G=CA2317756590REEP6c.349-4G= (n.349-4G=)
c.165-4G=
c.133-4G= (n.133-4G=)
19g.1496281G>TCA9047549REEP6c.349-4G>T (n.349-4G>T)
c.165-4G>T
c.133-4G>T (n.133-4G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1496282C>TCA2583000722REEP6c.349-3C>T (n.349-3C>T)
c.165-3C>T
c.133-3C>T (n.133-3C>T)
 gnomAD v4
19g.1496283A>CCA403056862REEP6c.349-2A>C (n.349-2A>C)
c.165-2A>C
c.133-2A>C (n.133-2A>C)
19g.1496283A>GCA403056863REEP6c.349-2A>G (n.349-2A>G)
c.165-2A>G
c.133-2A>G (n.133-2A>G)
19g.1496283A>TCA403056861REEP6c.349-2A>T (n.349-2A>T)
c.165-2A>T
c.133-2A>T (n.133-2A>T)
19g.1496284G>ACA403056864REEP6c.349-1G>A (n.349-1G>A)
c.165-1G>A
c.133-1G>A (n.133-1G>A)
 ClinVar dbSNP
19g.1496284G>CCA403056865REEP6c.349-1G>C (n.349-1G>C)
c.165-1G>C
c.133-1G>C (n.133-1G>C)
19g.1496284G=CA2317756591REEP6c.349-1G= (n.349-1G=)
c.165-1G=
c.133-1G= (n.133-1G=)
19g.1496284G>TCA403056866REEP6c.349-1G>T (n.349-1G>T)
c.165-1G>T
c.133-1G>T (n.133-1G>T)
 ClinVar dbSNP gnomAD v4
19g.1496285T>ACA403056867REEP6c.349T>A (p.Cys117Ser)
c.165T>A
c.133T>A (p.Cys45Ser)
19g.1496285T>CCA304100462REEP6c.349T>C (p.Cys117Arg)
c.165T>C
c.133T>C (p.Cys45Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1496285T>GCA403056868REEP6c.349T>G (p.Cys117Gly)
c.165T>G
c.133T>G (p.Cys45Gly)
 dbSNP gnomAD v3 gnomAD v4
19g.1496285T=CA2317756592REEP6c.349T= (p.Cys117=)
c.165T=
c.133T= (p.Cys45=)
19g.1496286G>ACA403056869REEP6c.350G>A (p.Cys117Tyr)
c.166G>A
c.134G>A (p.Cys45Tyr)
19g.1496286G>CCA403056870REEP6c.350G>C (p.Cys117Ser)
c.166G>C
c.134G>C (p.Cys45Ser)
19g.1496286G>TCA403056871REEP6c.350G>T (p.Cys117Phe)
c.166G>T
c.134G>T (p.Cys45Phe)
19g.1496287C>ACA403056872REEP6c.351C>A (p.Cys117Ter)
c.167C>A
c.135C>A (p.Cys45Ter)
 COSMIC COSMIC
19g.1496287C=CA2317756593REEP6c.351C= (p.Cys117=)
c.167C=
c.135C= (p.Cys45=)
19g.1496287C>GCA403056873REEP6c.351C>G (p.Cys117Trp)
c.167C>G
c.135C>G (p.Cys45Trp)
 gnomAD v4
19g.1496287C>TCA9047550REEP6c.351C>T (p.Cys117=)
c.167C>T
c.135C>T (p.Cys45=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1496288G>ACA9047551REEP6c.352G>A (p.Ala118Thr)
c.168G>A
c.136G>A (p.Ala46Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.1496288G>CCA403056874REEP6c.352G>C (p.Ala118Pro)
c.168G>C
c.136G>C (p.Ala46Pro)
19g.1496288G=CA2317756594REEP6c.352G= (p.Ala118=)
c.168G=
c.136G= (p.Ala46=)
19g.1496288G>TCA9047552REEP6c.352G>T (p.Ala118Ser)
c.168G>T
c.136G>T (p.Ala46Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1496289C>ACA403056875REEP6c.353C>A (p.Ala118Asp)
c.169C>A
c.137C>A (p.Ala46Asp)
19g.1496289C>GCA403056876REEP6c.353C>G (p.Ala118Gly)
c.169C>G
c.137C>G (p.Ala46Gly)
19g.1496289C>TCA403056877REEP6c.353C>T (p.Ala118Val)
c.169C>T
c.137C>T (p.Ala46Val)
19g.1496290C>ACA504733080REEP6c.354C>A (p.Ala118=)
c.170C>A
c.138C>A (p.Ala46=)
19g.1496290C>GCA504733074REEP6c.354C>G (p.Ala118=)
c.170C>G
c.138C>G (p.Ala46=)
19g.1496290C>TCA504733077REEP6c.354C>T (p.Ala118=)
c.170C>T
c.138C>T (p.Ala46=)
 ClinVar dbSNP gnomAD v4
19g.1496291T>ACA403056878REEP6c.355T>A (p.Phe119Ile)
c.171T>A
c.139T>A (p.Phe47Ile)
19g.1496291T>CCA403056879REEP6c.355T>C (p.Phe119Leu)
c.171T>C
c.139T>C (p.Phe47Leu)
 gnomAD v4
19g.1496291T>GCA403056880REEP6c.355T>G (p.Phe119Val)
c.171T>G
c.139T>G (p.Phe47Val)
19g.1496292delCA2583000723REEP6c.356del (p.Phe119SerfsTer27)
c.172del
c.140del (p.Phe47SerfsTer27)
 gnomAD v4
19g.1496292T>ACA403056881REEP6c.356T>A (p.Phe119Tyr)
c.172T>A
c.140T>A (p.Phe47Tyr)
19g.1496292T>CCA403056883REEP6c.356T>C (p.Phe119Ser)
c.172T>C
c.140T>C (p.Phe47Ser)
19g.1496292T>GCA403056882REEP6c.356T>G (p.Phe119Cys)
c.172T>G
c.140T>G (p.Phe47Cys)
19g.1496293C>ACA403056884REEP6c.357C>A (p.Phe119Leu)
c.173C>A
c.141C>A (p.Phe47Leu)
19g.1496293C=CA2317756595REEP6c.357C= (p.Phe119=)
c.173C=
c.141C= (p.Phe47=)
19g.1496293C>GCA403056885REEP6c.357C>G (p.Phe119Leu)
c.173C>G
c.141C>G (p.Phe47Leu)
 dbSNP gnomAD v4
19g.1496293C>TCA504733092REEP6c.357C>T (p.Phe119=)
c.173C>T
c.141C>T (p.Phe47=)
19g.1496294C>ACA403056886REEP6c.358C>A (p.Leu120Met)
c.174C>A
c.142C>A (p.Leu48Met)
 ClinVar gnomAD v4
19g.1496294C>GCA403056887REEP6c.358C>G (p.Leu120Val)
c.174C>G
c.142C>G (p.Leu48Val)
 gnomAD v4
19g.1496294C>TCA504733097REEP6c.358C>T (p.Leu120=)
c.174C>T
c.142C>T (p.Leu48=)
 gnomAD v4
19g.1496294_1496297delinsCTGTCA2317756596REEP6c.358_361delinsCTGT (p.Leu120=)
c.174_177delinsCTGT
c.142_145delinsCTGT (p.Leu48=)
19g.1496295T>ACA403056889REEP6c.359T>A (p.Leu120Gln)
c.175T>A
c.143T>A (p.Leu48Gln)
19g.1496295T>CCA403056888REEP6c.359T>C (p.Leu120Pro)
c.175T>C
c.143T>C (p.Leu48Pro)
 gnomAD v4
19g.1496295T>GCA403056890REEP6c.359T>G (p.Leu120Arg)
c.175T>G
c.143T>G (p.Leu48Arg)
19g.1496299_1496301delCA9047553REEP6c.363_365del (p.Leu121del)
c.179_181del
c.147_149del (p.Leu49del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1496296G>ACA504733105REEP6c.360G>A (p.Leu120=)
c.176G>A
c.144G>A (p.Leu48=)
19g.1496296G>CCA504733107REEP6c.360G>C (p.Leu120=)
c.176G>C
c.144G>C (p.Leu48=)
19g.1496296G>TCA504733109REEP6c.360G>T (p.Leu120=)
c.176G>T
c.144G>T (p.Leu48=)
 gnomAD v4
19g.1496297T>ACA403056892REEP6c.361T>A (p.Leu121Met)
c.177T>A
c.145T>A (p.Leu49Met)
19g.1496297T>CCA504733114REEP6c.361T>C (p.Leu121=)
c.177T>C
c.145T>C (p.Leu49=)
19g.1496297T>GCA403056891REEP6c.361T>G (p.Leu121Val)
c.177T>G
c.145T>G (p.Leu49Val)
19g.1496298T>ACA403056895REEP6c.362T>A (p.Leu121Ter)
c.178T>A
c.146T>A (p.Leu49Ter)
19g.1496298T>CCA403056893REEP6c.362T>C (p.Leu121Ser)
c.178T>C
c.146T>C (p.Leu49Ser)
19g.1496298T>GCA403056894REEP6c.362T>G (p.Leu121Trp)
c.178T>G
c.146T>G (p.Leu49Trp)
19g.1496299G>ACA504733119REEP6c.363G>A (p.Leu121=)
c.179G>A
c.147G>A (p.Leu49=)
19g.1496299G>CCA403056896REEP6c.363G>C (p.Leu121Phe)
c.179G>C
c.147G>C (p.Leu49Phe)
19g.1496299G=CA2317756597REEP6c.363G= (p.Leu121=)
c.179G=
c.147G= (p.Leu49=)
19g.1496299G>TCA9047554REEP6c.363G>T (p.Leu121Phe)
c.179G>T
c.147G>T (p.Leu49Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.1496300T>ACA403056897REEP6c.364T>A (p.Phe122Ile)
c.180T>A
c.148T>A (p.Phe50Ile)
19g.1496300T>CCA403056898REEP6c.364T>C (p.Phe122Leu)
c.180T>C
c.148T>C (p.Phe50Leu)
 gnomAD v4
19g.1496300T>GCA403056899REEP6c.364T>G (p.Phe122Val)
c.180T>G
c.148T>G (p.Phe50Val)
19g.1496301T>ACA403056902REEP6c.365T>A (p.Phe122Tyr)
c.181T>A
c.149T>A (p.Phe50Tyr)
19g.1496301T>CCA403056900REEP6c.365T>C (p.Phe122Ser)
c.181T>C
c.149T>C (p.Phe50Ser)
19g.1496301T>GCA403056901REEP6c.365T>G (p.Phe122Cys)
c.181T>G
c.149T>G (p.Phe50Cys)
19g.1496302C>ACA403056903REEP6c.366C>A (p.Phe122Leu)
c.182C>A
c.150C>A (p.Phe50Leu)
19g.1496302C=CA2317756598REEP6c.366C= (p.Phe122=)
c.182C=
c.150C= (p.Phe50=)
19g.1496302C>GCA403056904REEP6c.366C>G (p.Phe122Leu)
c.182C>G
c.150C>G (p.Phe50Leu)
 dbSNP
19g.1496302C>TCA504733139REEP6c.366C>T (p.Phe122=)
c.182C>T
c.150C>T (p.Phe50=)
 dbSNP gnomAD v4
19g.1496303T>ACA403056905REEP6c.367T>A (p.Cys123Ser)
c.183T>A
c.151T>A (p.Cys51Ser)
19g.1496303T>CCA403056906REEP6c.367T>C (p.Cys123Arg)
c.183T>C
c.151T>C (p.Cys51Arg)
 dbSNP gnomAD v3 gnomAD v4
19g.1496303T>GCA403056907REEP6c.367T>G (p.Cys123Gly)
c.183T>G
c.151T>G (p.Cys51Gly)
19g.1496303T=CA2317756599REEP6c.367T= (p.Cys123=)
c.183T=
c.151T= (p.Cys51=)
19g.1496304G>ACA304100477REEP6c.368G>A (p.Cys123Tyr)
c.184G>A
c.152G>A (p.Cys51Tyr)
 dbSNP gnomAD v2 gnomAD v4
19g.1496304G>CCA403056909REEP6c.368G>C (p.Cys123Ser)
c.184G>C
c.152G>C (p.Cys51Ser)
19g.1496304G=CA2317756600REEP6c.368G= (p.Cys123=)
c.184G=
c.152G= (p.Cys51=)
19g.1496304G>TCA403056908REEP6c.368G>T (p.Cys123Phe)
c.184G>T
c.152G>T (p.Cys51Phe)
 gnomAD v4
19g.1496307_1496376delCA9047555REEP6c.371_440del (p.Met124ThrfsTer5)
c.187_256del
c.155_224del (p.Met52ThrfsTer5)
 ExAC gnomAD v2 gnomAD v4
19g.1496305C>ACA403056910REEP6c.369C>A (p.Cys123Ter)
c.185C>A
c.153C>A (p.Cys51Ter)
19g.1496305C=CA2317756601REEP6c.369C= (p.Cys123=)
c.185C=
c.153C= (p.Cys51=)
19g.1496305C>GCA403056911REEP6c.369C>G (p.Cys123Trp)
c.185C>G
c.153C>G (p.Cys51Trp)
 dbSNP gnomAD v2 gnomAD v4
19g.1496305C>TCA504733159REEP6c.369C>T (p.Cys123=)
c.185C>T
c.153C>T (p.Cys51=)
 COSMIC COSMIC
19g.1496306A>CCA403056912REEP6c.370A>C (p.Met124Leu)
c.186A>C
c.154A>C (p.Met52Leu)
19g.1496306A>GCA403056913REEP6c.370A>G (p.Met124Val)
c.186A>G
c.154A>G (p.Met52Val)
19g.1496306A>TCA403056914REEP6c.370A>T (p.Met124Leu)
c.186A>T
c.154A>T (p.Met52Leu)
19g.1496307T>ACA403056915REEP6c.371T>A (p.Met124Lys)
c.187T>A
c.155T>A (p.Met52Lys)
19g.1496307T>CCA403056916REEP6c.371T>C (p.Met124Thr)
c.187T>C
c.155T>C (p.Met52Thr)
19g.1496307T>GCA403056917REEP6c.371T>G (p.Met124Arg)
c.187T>G
c.155T>G (p.Met52Arg)
 gnomAD v4
19g.1496308G>ACA403056918REEP6c.372G>A (p.Met124Ile)
c.188G>A
c.156G>A (p.Met52Ile)
19g.1496308G>CCA403056919REEP6c.372G>C (p.Met124Ile)
c.188G>C
c.156G>C (p.Met52Ile)
19g.1496308G>TCA403056920REEP6c.372G>T (p.Met124Ile)
c.188G>T
c.156G>T (p.Met52Ile)
19g.1496309G>ACA403056921REEP6c.373G>A (p.Ala125Thr)
c.189G>A
c.157G>A (p.Ala53Thr)
 gnomAD v4
19g.1496309G>CCA403056923REEP6c.373G>C (p.Ala125Pro)
c.189G>C
c.157G>C (p.Ala53Pro)
19g.1496309G>TCA403056922REEP6c.373G>T (p.Ala125Ser)
c.189G>T
c.157G>T (p.Ala53Ser)
19g.1496310C>ACA403056924REEP6c.374C>A (p.Ala125Asp)
c.190C>A
c.158C>A (p.Ala53Asp)
19g.1496310C=CA2317756602REEP6c.374C= (p.Ala125=)
c.190C=
c.158C= (p.Ala53=)
19g.1496310C>GCA403056925REEP6c.374C>G (p.Ala125Gly)
c.190C>G
c.158C>G (p.Ala53Gly)
19g.1496310C>TCA403056926REEP6c.374C>T (p.Ala125Val)
c.190C>T
c.158C>T (p.Ala53Val)
 dbSNP
19g.1496311T>ACA504733201REEP6c.375T>A (p.Ala125=)
c.191T>A
c.159T>A (p.Ala53=)
19g.1496311T>CCA504733197REEP6c.375T>C (p.Ala125=)
c.191T>C
c.159T>C (p.Ala53=)
19g.1496311T>GCA504733192REEP6c.375T>G (p.Ala125=)
c.191T>G
c.159T>G (p.Ala53=)
19g.1496312C>ACA403056927REEP6c.376C>A (p.Pro126Thr)
c.192C>A
c.160C>A (p.Pro54Thr)
 ClinVar dbSNP gnomAD v4
19g.1496312C=CA2317756603REEP6c.376C= (p.Pro126=)
c.192C=
c.160C= (p.Pro54=)
19g.1496312C>GCA403056928REEP6c.376C>G (p.Pro126Ala)
c.192C>G
c.160C>G (p.Pro54Ala)
 dbSNP
19g.1496312C>TCA304100481REEP6c.376C>T (p.Pro126Ser)
c.192C>T
c.160C>T (p.Pro54Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1496313C>ACA403056929REEP6c.377C>A (p.Pro126His)
c.193C>A
c.161C>A (p.Pro54His)
19g.1496313C>GCA403056930REEP6c.377C>G (p.Pro126Arg)
c.193C>G
c.161C>G (p.Pro54Arg)
19g.1496313C>TCA403056931REEP6c.377C>T (p.Pro126Leu)
c.193C>T
c.161C>T (p.Pro54Leu)
19g.1496314C>ACA504733221REEP6c.378C>A (p.Pro126=)
c.194C>A
c.162C>A (p.Pro54=)
19g.1496314C>GCA504733226REEP6c.378C>G (p.Pro126=)
c.194C>G
c.162C>G (p.Pro54=)
 gnomAD v4
19g.1496314C>TCA504733223REEP6c.378C>T (p.Pro126=)
c.194C>T
c.162C>T (p.Pro54=)
19g.1496315A>CCA504733229REEP6c.379A>C (p.Arg127=)
c.195A>C
c.163A>C (p.Arg55=)
19g.1496315A>GCA403056932REEP6c.379A>G (p.Arg127Gly)
c.195A>G
c.163A>G (p.Arg55Gly)
 gnomAD v4 COSMIC COSMIC
19g.1496315A>TCA403056933REEP6c.379A>T (p.Arg127Trp)
c.195A>T
c.163A>T (p.Arg55Trp)
19g.1496316G>ACA403056936REEP6c.380G>A (p.Arg127Lys)
c.196G>A
c.164G>A (p.Arg55Lys)
 dbSNP gnomAD v2 gnomAD v4
19g.1496316G>CCA403056935REEP6c.380G>C (p.Arg127Thr)
c.196G>C
c.164G>C (p.Arg55Thr)
 gnomAD v4
19g.1496316G=CA2317756604REEP6c.380G= (p.Arg127=)
c.196G=
c.164G= (p.Arg55=)
19g.1496316G>TCA403056934REEP6c.380G>T (p.Arg127Met)
c.196G>T
c.164G>T (p.Arg55Met)
19g.1496317G>ACA9047556REEP6c.381G>A (p.Arg127=)
c.197G>A
c.165G>A (p.Arg55=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.1496317G>CCA403056937REEP6c.381G>C (p.Arg127Ser)
c.197G>C
c.165G>C (p.Arg55Ser)
 ClinVar dbSNP gnomAD v4
19g.1496317G=CA2317756605REEP6c.381G= (p.Arg127=)
c.197G=
c.165G= (p.Arg55=)
19g.1496317G>TCA403056938REEP6c.381G>T (p.Arg127Ser)
c.197G>T
c.165G>T (p.Arg55Ser)
19g.1496318C>ACA403056939REEP6c.382C>A (p.Pro128Thr)
c.198C>A
c.166C>A (p.Pro56Thr)
19g.1496318C=CA2317756606REEP6c.382C= (p.Pro128=)
c.198C=
c.166C= (p.Pro56=)
19g.1496318C>GCA9047557REEP6c.382C>G (p.Pro128Ala)
c.198C>G
c.166C>G (p.Pro56Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1496318C>TCA403056940REEP6c.382C>T (p.Pro128Ser)
c.198C>T
c.166C>T (p.Pro56Ser)
19g.1496320delCA2583000724REEP6c.384del (p.Trp129GlyfsTer17)
c.200del
c.168del (p.Trp57GlyfsTer17)
 gnomAD v4
19g.1496319C>ACA403056941REEP6c.383C>A (p.Pro128His)
c.199C>A
c.167C>A (p.Pro56His)
19g.1496319C=CA2317756607REEP6c.383C= (p.Pro128=)
c.199C=
c.167C= (p.Pro56=)
19g.1496319C>GCA403056942REEP6c.383C>G (p.Pro128Arg)
c.199C>G
c.167C>G (p.Pro56Arg)
19g.1496319C>TCA16044007REEP6c.383C>T (p.Pro128Leu)
c.199C>T
c.167C>T (p.Pro56Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.1496320C>ACA504733262REEP6c.384C>A (p.Pro128=)
c.200C>A
c.168C>A (p.Pro56=)
19g.1496320C=CA2317756608REEP6c.384C= (p.Pro128=)
c.200C=
c.168C= (p.Pro56=)
19g.1496320C>GCA504733265REEP6c.384C>G (p.Pro128=)
c.200C>G
c.168C>G (p.Pro56=)
19g.1496320C>TCA504733269REEP6c.384C>T (p.Pro128=)
c.200C>T
c.168C>T (p.Pro56=)
 dbSNP gnomAD v3 gnomAD v4
19g.1496321T>ACA403056943REEP6c.385T>A (p.Trp129Arg)
c.201T>A
c.169T>A (p.Trp57Arg)
19g.1496321T>CCA403056944REEP6c.385T>C (p.Trp129Arg)
c.201T>C
c.169T>C (p.Trp57Arg)
 gnomAD v4
19g.1496321T>GCA403056945REEP6c.385T>G (p.Trp129Gly)
c.201T>G
c.169T>G (p.Trp57Gly)
19g.1496322G>ACA403056947REEP6c.386G>A (p.Trp129Ter)
c.202G>A
c.170G>A (p.Trp57Ter)
19g.1496322G>CCA403056948REEP6c.386G>C (p.Trp129Ser)
c.202G>C
c.170G>C (p.Trp57Ser)
19g.1496322G>TCA403056946REEP6c.386G>T (p.Trp129Leu)
c.202G>T
c.170G>T (p.Trp57Leu)
19g.1496323G>ACA403056949REEP6c.387G>A (p.Trp129Ter)
c.203G>A
c.171G>A (p.Trp57Ter)
 COSMIC COSMIC
19g.1496323G>CCA403056950REEP6c.387G>C (p.Trp129Cys)
c.203G>C
c.171G>C (p.Trp57Cys)
19g.1496323G=CA2317756609REEP6c.387G= (p.Trp129=)
c.203G=
c.171G= (p.Trp57=)
19g.1496323G>TCA403056951REEP6c.387G>T (p.Trp129Cys)
c.203G>T
c.171G>T (p.Trp57Cys)
 dbSNP gnomAD v2 gnomAD v4
19g.1496324A>CCA403056952REEP6c.388A>C (p.Asn130His)
c.204A>C
c.172A>C (p.Asn58His)
19g.1496324A>GCA403056953REEP6c.388A>G (p.Asn130Asp)
c.204A>G
c.172A>G (p.Asn58Asp)
19g.1496324A>TCA403056954REEP6c.388A>T (p.Asn130Tyr)
c.204A>T
c.172A>T (p.Asn58Tyr)
19g.1496325A>CCA403056957REEP6c.389A>C (p.Asn130Thr)
c.205A>C
c.173A>C (p.Asn58Thr)
19g.1496325A>GCA403056955REEP6c.389A>G (p.Asn130Ser)
c.205A>G
c.173A>G (p.Asn58Ser)
19g.1496325A>TCA403056956REEP6c.389A>T (p.Asn130Ile)
c.205A>T
c.173A>T (p.Asn58Ile)
19g.1496326C>ACA403056958REEP6c.390C>A (p.Asn130Lys)
c.206C>A
c.174C>A (p.Asn58Lys)
19g.1496326C=CA2317756610REEP6c.390C= (p.Asn130=)
c.206C=
c.174C= (p.Asn58=)
19g.1496326C>GCA403056959REEP6c.390C>G (p.Asn130Lys)
c.206C>G
c.174C>G (p.Asn58Lys)
19g.1496326C>TCA9047558REEP6c.390C>T (p.Asn130=)
c.206C>T
c.174C>T (p.Asn58=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched