Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.136872134_136872136delCA2680490637PEX7c.748-64_748-62del (n.748-64_748-62del)
c.*13-64_*13-62del (n.*13-64_*13-62del)
c.436-64_436-62del
c.634-64_634-62del (n.634-64_634-62del)
c.753-64_753-62del (n.753-64_753-62del)
c.628-64_628-62del (n.628-64_628-62del)
c.454-64_454-62del (n.454-64_454-62del)
c.526+25953_526+25955del (n.526+25953_526+25955del)
 gnomAD v4
6g.136872137dupCA2680490639PEX7c.748-61dup (n.748-61dup)
c.*13-61dup (n.*13-61dup)
c.436-61dup
c.634-61dup (n.634-61dup)
c.753-61dup (n.753-61dup)
c.628-61dup (n.628-61dup)
c.454-61dup (n.454-61dup)
c.526+25956dup (n.526+25956dup)
 gnomAD v4
6g.136872136A>GCA2680490640PEX7c.748-62A>G (n.748-62A>G)
c.*13-62A>G (n.*13-62A>G)
c.436-62A>G
c.634-62A>G (n.634-62A>G)
c.753-62A>G (n.753-62A>G)
c.628-62A>G (n.628-62A>G)
c.454-62A>G (n.454-62A>G)
c.526+25955A>G (n.526+25955A>G)
 gnomAD v4
6g.136872137A>GCA2578751820PEX7c.748-61A>G (n.748-61A>G)
c.*13-61A>G (n.*13-61A>G)
c.436-61A>G
c.634-61A>G (n.634-61A>G)
c.753-61A>G (n.753-61A>G)
c.628-61A>G (n.628-61A>G)
c.454-61A>G (n.454-61A>G)
c.526+25956A>G (n.526+25956A>G)
6g.136872138G>ACA2680490641PEX7c.748-60G>A (n.748-60G>A)
c.*13-60G>A (n.*13-60G>A)
c.436-60G>A
c.634-60G>A (n.634-60G>A)
c.753-60G>A (n.753-60G>A)
c.628-60G>A (n.628-60G>A)
c.454-60G>A (n.454-60G>A)
c.526+25957G>A (n.526+25957G>A)
 gnomAD v4
6g.136872138G>TCA2680490642PEX7c.748-60G>T (n.748-60G>T)
c.*13-60G>T (n.*13-60G>T)
c.436-60G>T
c.634-60G>T (n.634-60G>T)
c.753-60G>T (n.753-60G>T)
c.628-60G>T (n.628-60G>T)
c.454-60G>T (n.454-60G>T)
c.526+25957G>T (n.526+25957G>T)
 gnomAD v4
6g.136872139C>ACA2578751821PEX7c.748-59C>A (n.748-59C>A)
c.*13-59C>A (n.*13-59C>A)
c.436-59C>A
c.634-59C>A (n.634-59C>A)
c.753-59C>A (n.753-59C>A)
c.628-59C>A (n.628-59C>A)
c.454-59C>A (n.454-59C>A)
c.526+25958C>A (n.526+25958C>A)
 gnomAD v4
6g.136872139C>TCA2680490643PEX7c.748-59C>T (n.748-59C>T)
c.*13-59C>T (n.*13-59C>T)
c.436-59C>T
c.634-59C>T (n.634-59C>T)
c.753-59C>T (n.753-59C>T)
c.628-59C>T (n.628-59C>T)
c.454-59C>T (n.454-59C>T)
c.526+25958C>T (n.526+25958C>T)
 gnomAD v4
6g.136872140A>GCA2680490644PEX7c.748-58A>G (n.748-58A>G)
c.*13-58A>G (n.*13-58A>G)
c.436-58A>G
c.634-58A>G (n.634-58A>G)
c.753-58A>G (n.753-58A>G)
c.628-58A>G (n.628-58A>G)
c.454-58A>G (n.454-58A>G)
c.526+25959A>G (n.526+25959A>G)
 gnomAD v4
6g.136872141G>TCA2680490645PEX7c.748-57G>T (n.748-57G>T)
c.*13-57G>T (n.*13-57G>T)
c.436-57G>T
c.634-57G>T (n.634-57G>T)
c.753-57G>T (n.753-57G>T)
c.628-57G>T (n.628-57G>T)
c.454-57G>T (n.454-57G>T)
c.526+25960G>T (n.526+25960G>T)
 gnomAD v4
6g.136872143G>ACA2680490646PEX7c.748-55G>A (n.748-55G>A)
c.*13-55G>A (n.*13-55G>A)
c.436-55G>A
c.634-55G>A (n.634-55G>A)
c.753-55G>A (n.753-55G>A)
c.628-55G>A (n.628-55G>A)
c.454-55G>A (n.454-55G>A)
c.526+25962G>A (n.526+25962G>A)
 gnomAD v4
6g.136872143G>TCA1094890157PEX7c.748-55G>T (n.748-55G>T)
c.*13-55G>T (n.*13-55G>T)
c.436-55G>T
c.634-55G>T (n.634-55G>T)
c.753-55G>T (n.753-55G>T)
c.628-55G>T (n.628-55G>T)
c.454-55G>T (n.454-55G>T)
c.526+25962G>T (n.526+25962G>T)
 gnomAD v3 gnomAD v4
6g.136872144T>CCA1094890162PEX7c.748-54T>C (n.748-54T>C)
c.*13-54T>C (n.*13-54T>C)
c.436-54T>C
c.634-54T>C (n.634-54T>C)
c.753-54T>C (n.753-54T>C)
c.628-54T>C (n.628-54T>C)
c.454-54T>C (n.454-54T>C)
c.526+25963T>C (n.526+25963T>C)
 dbSNP gnomAD v3 gnomAD v4
6g.136872146A>GCA2680490647PEX7c.748-52A>G (n.748-52A>G)
c.*13-52A>G (n.*13-52A>G)
c.436-52A>G
c.634-52A>G (n.634-52A>G)
c.753-52A>G (n.753-52A>G)
c.628-52A>G (n.628-52A>G)
c.454-52A>G (n.454-52A>G)
c.526+25965A>G (n.526+25965A>G)
 gnomAD v4
6g.136872146dupCA2578751822PEX7c.748-52dup (n.748-52dup)
c.*13-52dup (n.*13-52dup)
c.436-52dup
c.634-52dup (n.634-52dup)
c.753-52dup (n.753-52dup)
c.628-52dup (n.628-52dup)
c.454-52dup (n.454-52dup)
c.526+25965dup (n.526+25965dup)
 gnomAD v4
6g.136872147T>ACA4017730PEX7c.748-51T>A (n.748-51T>A)
c.*13-51T>A (n.*13-51T>A)
c.436-51T>A
c.634-51T>A (n.634-51T>A)
c.753-51T>A (n.753-51T>A)
c.628-51T>A (n.628-51T>A)
c.454-51T>A (n.454-51T>A)
c.526+25966T>A (n.526+25966T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.136872147T>CCA4017729PEX7c.748-51T>C (n.748-51T>C)
c.*13-51T>C (n.*13-51T>C)
c.436-51T>C
c.634-51T>C (n.634-51T>C)
c.753-51T>C (n.753-51T>C)
c.628-51T>C (n.628-51T>C)
c.454-51T>C (n.454-51T>C)
c.526+25966T>C (n.526+25966T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.136872149delCA2578751823PEX7c.748-49del (n.748-49del)
c.*13-49del (n.*13-49del)
c.436-49del
c.634-49del (n.634-49del)
c.753-49del (n.753-49del)
c.628-49del (n.628-49del)
c.454-49del (n.454-49del)
c.526+25968del (n.526+25968del)
6g.136872149A>GCA570574019PEX7c.748-49A>G (n.748-49A>G)
c.*13-49A>G (n.*13-49A>G)
c.436-49A>G
c.634-49A>G (n.634-49A>G)
c.753-49A>G (n.753-49A>G)
c.628-49A>G (n.628-49A>G)
c.454-49A>G (n.454-49A>G)
c.526+25968A>G (n.526+25968A>G)
 dbSNP gnomAD v2 gnomAD v4
6g.136872150T>CCA2680490648PEX7c.748-48T>C (n.748-48T>C)
c.*13-48T>C (n.*13-48T>C)
c.436-48T>C
c.634-48T>C (n.634-48T>C)
c.753-48T>C (n.753-48T>C)
c.628-48T>C (n.628-48T>C)
c.454-48T>C (n.454-48T>C)
c.526+25969T>C (n.526+25969T>C)
 gnomAD v4
6g.136872151C>ACA2680490649PEX7c.748-47C>A (n.748-47C>A)
c.*13-47C>A (n.*13-47C>A)
c.436-47C>A
c.634-47C>A (n.634-47C>A)
c.753-47C>A (n.753-47C>A)
c.628-47C>A (n.628-47C>A)
c.454-47C>A (n.454-47C>A)
c.526+25970C>A (n.526+25970C>A)
 gnomAD v4
6g.136872151C>TCA2680490650PEX7c.748-47C>T (n.748-47C>T)
c.*13-47C>T (n.*13-47C>T)
c.436-47C>T
c.634-47C>T (n.634-47C>T)
c.753-47C>T (n.753-47C>T)
c.628-47C>T (n.628-47C>T)
c.454-47C>T (n.454-47C>T)
c.526+25970C>T (n.526+25970C>T)
 gnomAD v4
6g.136872152A>CCA2680490651PEX7c.748-46A>C (n.748-46A>C)
c.*13-46A>C (n.*13-46A>C)
c.436-46A>C
c.634-46A>C (n.634-46A>C)
c.753-46A>C (n.753-46A>C)
c.628-46A>C (n.628-46A>C)
c.454-46A>C (n.454-46A>C)
c.526+25971A>C (n.526+25971A>C)
 gnomAD v4
6g.136872152A>GCA570574021PEX7c.748-46A>G (n.748-46A>G)
c.*13-46A>G (n.*13-46A>G)
c.436-46A>G
c.634-46A>G (n.634-46A>G)
c.753-46A>G (n.753-46A>G)
c.628-46A>G (n.628-46A>G)
c.454-46A>G (n.454-46A>G)
c.526+25971A>G (n.526+25971A>G)
 dbSNP gnomAD v2 gnomAD v4
6g.136872153C>ACA2680490653PEX7c.748-45C>A (n.748-45C>A)
c.*13-45C>A (n.*13-45C>A)
c.436-45C>A
c.634-45C>A (n.634-45C>A)
c.753-45C>A (n.753-45C>A)
c.628-45C>A (n.628-45C>A)
c.454-45C>A (n.454-45C>A)
c.526+25972C>A (n.526+25972C>A)
 gnomAD v4
6g.136872154_136872156delCA2680490652PEX7c.748-44_748-42del (n.748-44_748-42del)
c.*13-44_*13-42del (n.*13-44_*13-42del)
c.436-44_436-42del
c.634-44_634-42del (n.634-44_634-42del)
c.753-44_753-42del (n.753-44_753-42del)
c.628-44_628-42del (n.628-44_628-42del)
c.454-44_454-42del (n.454-44_454-42del)
c.526+25973_526+25975del (n.526+25973_526+25975del)
 gnomAD v4
6g.136872154A>CCA4017731PEX7c.748-44A>C (n.748-44A>C)
c.*13-44A>C (n.*13-44A>C)
c.436-44A>C
c.634-44A>C (n.634-44A>C)
c.753-44A>C (n.753-44A>C)
c.628-44A>C (n.628-44A>C)
c.454-44A>C (n.454-44A>C)
c.526+25973A>C (n.526+25973A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.136872154A>GCA2680490654PEX7c.748-44A>G (n.748-44A>G)
c.*13-44A>G (n.*13-44A>G)
c.436-44A>G
c.634-44A>G (n.634-44A>G)
c.753-44A>G (n.753-44A>G)
c.628-44A>G (n.628-44A>G)
c.454-44A>G (n.454-44A>G)
c.526+25973A>G (n.526+25973A>G)
 gnomAD v4
6g.136872155G>ACA2680490655PEX7c.748-43G>A (n.748-43G>A)
c.*13-43G>A (n.*13-43G>A)
c.436-43G>A
c.634-43G>A (n.634-43G>A)
c.753-43G>A (n.753-43G>A)
c.628-43G>A (n.628-43G>A)
c.454-43G>A (n.454-43G>A)
c.526+25974G>A (n.526+25974G>A)
 gnomAD v4
6g.136872155G>TCA2680490657PEX7c.748-43G>T (n.748-43G>T)
c.*13-43G>T (n.*13-43G>T)
c.436-43G>T
c.634-43G>T (n.634-43G>T)
c.753-43G>T (n.753-43G>T)
c.628-43G>T (n.628-43G>T)
c.454-43G>T (n.454-43G>T)
c.526+25974G>T (n.526+25974G>T)
 gnomAD v4
6g.136872156C>ACA2578751824PEX7c.748-42C>A (n.748-42C>A)
c.*13-42C>A (n.*13-42C>A)
c.436-42C>A
c.634-42C>A (n.634-42C>A)
c.753-42C>A (n.753-42C>A)
c.628-42C>A (n.628-42C>A)
c.454-42C>A (n.454-42C>A)
c.526+25975C>A (n.526+25975C>A)
 gnomAD v4
6g.136872156C>TCA2680490658PEX7c.748-42C>T (n.748-42C>T)
c.*13-42C>T (n.*13-42C>T)
c.436-42C>T
c.634-42C>T (n.634-42C>T)
c.753-42C>T (n.753-42C>T)
c.628-42C>T (n.628-42C>T)
c.454-42C>T (n.454-42C>T)
c.526+25975C>T (n.526+25975C>T)
 gnomAD v4
6g.136872157T>CCA2680490659PEX7c.748-41T>C (n.748-41T>C)
c.*13-41T>C (n.*13-41T>C)
c.436-41T>C
c.634-41T>C (n.634-41T>C)
c.753-41T>C (n.753-41T>C)
c.628-41T>C (n.628-41T>C)
c.454-41T>C (n.454-41T>C)
c.526+25976T>C (n.526+25976T>C)
 dbSNP gnomAD v4
6g.136872158G>ACA4017732PEX7c.748-40G>A (n.748-40G>A)
c.*13-40G>A (n.*13-40G>A)
c.436-40G>A
c.634-40G>A (n.634-40G>A)
c.753-40G>A (n.753-40G>A)
c.628-40G>A (n.628-40G>A)
c.454-40G>A (n.454-40G>A)
c.526+25977G>A (n.526+25977G>A)
 dbSNP ExAC gnomAD v2
6g.136872158G>TCA2680490660PEX7c.748-40G>T (n.748-40G>T)
c.*13-40G>T (n.*13-40G>T)
c.436-40G>T
c.634-40G>T (n.634-40G>T)
c.753-40G>T (n.753-40G>T)
c.628-40G>T (n.628-40G>T)
c.454-40G>T (n.454-40G>T)
c.526+25977G>T (n.526+25977G>T)
 gnomAD v4
6g.136872159A>GCA2680490662PEX7c.748-39A>G (n.748-39A>G)
c.*13-39A>G (n.*13-39A>G)
c.436-39A>G
c.634-39A>G (n.634-39A>G)
c.753-39A>G (n.753-39A>G)
c.628-39A>G (n.628-39A>G)
c.454-39A>G (n.454-39A>G)
c.526+25978A>G (n.526+25978A>G)
 gnomAD v4
6g.136872160C>ACA2680490663PEX7c.748-38C>A (n.748-38C>A)
c.*13-38C>A (n.*13-38C>A)
c.436-38C>A
c.634-38C>A (n.634-38C>A)
c.753-38C>A (n.753-38C>A)
c.628-38C>A (n.628-38C>A)
c.454-38C>A (n.454-38C>A)
c.526+25979C>A (n.526+25979C>A)
 gnomAD v4
6g.136872160C>TCA2713185406PEX7c.748-38C>T (n.748-38C>T)
c.*13-38C>T (n.*13-38C>T)
c.436-38C>T
c.634-38C>T (n.634-38C>T)
c.753-38C>T (n.753-38C>T)
c.628-38C>T (n.628-38C>T)
c.454-38C>T (n.454-38C>T)
c.526+25979C>T (n.526+25979C>T)
 dbSNP
6g.136872161T>ACA2578751825PEX7c.748-37T>A (n.748-37T>A)
c.*13-37T>A (n.*13-37T>A)
c.436-37T>A
c.634-37T>A (n.634-37T>A)
c.753-37T>A (n.753-37T>A)
c.628-37T>A (n.628-37T>A)
c.454-37T>A (n.454-37T>A)
c.527-25981T>A (n.527-25981T>A)
6g.136872161T>CCA2680490664PEX7c.748-37T>C (n.748-37T>C)
c.*13-37T>C (n.*13-37T>C)
c.436-37T>C
c.634-37T>C (n.634-37T>C)
c.753-37T>C (n.753-37T>C)
c.628-37T>C (n.628-37T>C)
c.454-37T>C (n.454-37T>C)
c.527-25981T>C (n.527-25981T>C)
 gnomAD v4
6g.136872162T>CCA2680490665PEX7c.748-36T>C (n.748-36T>C)
c.*13-36T>C (n.*13-36T>C)
c.436-36T>C
c.634-36T>C (n.634-36T>C)
c.753-36T>C (n.753-36T>C)
c.628-36T>C (n.628-36T>C)
c.454-36T>C (n.454-36T>C)
c.527-25980T>C (n.527-25980T>C)
 gnomAD v4
6g.136872163C>ACA819535201PEX7c.748-35C>A (n.748-35C>A)
c.*13-35C>A (n.*13-35C>A)
c.436-35C>A
c.634-35C>A (n.634-35C>A)
c.753-35C>A (n.753-35C>A)
c.628-35C>A (n.628-35C>A)
c.454-35C>A (n.454-35C>A)
c.527-25979C>A (n.527-25979C>A)
 dbSNP gnomAD v3 gnomAD v4
6g.136872163C>TCA148202448PEX7c.748-35C>T (n.748-35C>T)
c.*13-35C>T (n.*13-35C>T)
c.436-35C>T
c.634-35C>T (n.634-35C>T)
c.753-35C>T (n.753-35C>T)
c.628-35C>T (n.628-35C>T)
c.454-35C>T (n.454-35C>T)
c.527-25979C>T (n.527-25979C>T)
 dbSNP gnomAD v2 gnomAD v4
6g.136872168delCA2497184231PEX7c.748-30del (n.748-30del)
c.*13-30del (n.*13-30del)
c.436-30del
c.634-30del (n.634-30del)
c.753-30del (n.753-30del)
c.628-30del (n.628-30del)
c.454-30del (n.454-30del)
c.527-25974del (n.527-25974del)
 dbSNP gnomAD v4
6g.136872165A>GCA2680490667PEX7c.748-33A>G (n.748-33A>G)
c.*13-33A>G (n.*13-33A>G)
c.436-33A>G
c.634-33A>G (n.634-33A>G)
c.753-33A>G (n.753-33A>G)
c.628-33A>G (n.628-33A>G)
c.454-33A>G (n.454-33A>G)
c.527-25977A>G (n.527-25977A>G)
 gnomAD v4
6g.136872166A>GCA2578751826PEX7c.748-32A>G (n.748-32A>G)
c.*13-32A>G (n.*13-32A>G)
c.436-32A>G
c.634-32A>G (n.634-32A>G)
c.753-32A>G (n.753-32A>G)
c.628-32A>G (n.628-32A>G)
c.454-32A>G (n.454-32A>G)
c.527-25976A>G (n.527-25976A>G)
 dbSNP
6g.136872168A>CCA2578751827PEX7c.748-30A>C (n.748-30A>C)
c.*13-30A>C (n.*13-30A>C)
c.436-30A>C
c.634-30A>C (n.634-30A>C)
c.753-30A>C (n.753-30A>C)
c.628-30A>C (n.628-30A>C)
c.454-30A>C (n.454-30A>C)
c.527-25974A>C (n.527-25974A>C)
6g.136872168A>GCA2680490668PEX7c.748-30A>G (n.748-30A>G)
c.*13-30A>G (n.*13-30A>G)
c.436-30A>G
c.634-30A>G (n.634-30A>G)
c.753-30A>G (n.753-30A>G)
c.628-30A>G (n.628-30A>G)
c.454-30A>G (n.454-30A>G)
c.527-25974A>G (n.527-25974A>G)
 gnomAD v4
6g.136872168A>TCA2680490669PEX7c.748-30A>T (n.748-30A>T)
c.*13-30A>T (n.*13-30A>T)
c.436-30A>T
c.634-30A>T (n.634-30A>T)
c.753-30A>T (n.753-30A>T)
c.628-30A>T (n.628-30A>T)
c.454-30A>T (n.454-30A>T)
c.527-25974A>T (n.527-25974A>T)
 gnomAD v4
6g.136872169G>ACA4017734PEX7c.748-29G>A (n.748-29G>A)
c.*13-29G>A (n.*13-29G>A)
c.436-29G>A
c.634-29G>A (n.634-29G>A)
c.753-29G>A (n.753-29G>A)
c.628-29G>A (n.628-29G>A)
c.454-29G>A (n.454-29G>A)
c.527-25973G>A (n.527-25973G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6g.136872169G>CCA2680490670PEX7c.748-29G>C (n.748-29G>C)
c.*13-29G>C (n.*13-29G>C)
c.436-29G>C
c.634-29G>C (n.634-29G>C)
c.753-29G>C (n.753-29G>C)
c.628-29G>C (n.628-29G>C)
c.454-29G>C (n.454-29G>C)
c.527-25973G>C (n.527-25973G>C)
 gnomAD v4
6g.136872169G>TCA2680490671PEX7c.748-29G>T (n.748-29G>T)
c.*13-29G>T (n.*13-29G>T)
c.436-29G>T
c.634-29G>T (n.634-29G>T)
c.753-29G>T (n.753-29G>T)
c.628-29G>T (n.628-29G>T)
c.454-29G>T (n.454-29G>T)
c.527-25973G>T (n.527-25973G>T)
 gnomAD v4
6g.136872171dupCA4017733PEX7c.748-27dup (n.748-27dup)
c.*13-27dup (n.*13-27dup)
c.436-27dup
c.634-27dup (n.634-27dup)
c.753-27dup (n.753-27dup)
c.628-27dup (n.628-27dup)
c.454-27dup (n.454-27dup)
c.527-25971dup (n.527-25971dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.136872170G>ACA2534015750PEX7c.748-28G>A (n.748-28G>A)
c.*13-28G>A (n.*13-28G>A)
c.436-28G>A
c.634-28G>A (n.634-28G>A)
c.753-28G>A (n.753-28G>A)
c.628-28G>A (n.628-28G>A)
c.454-28G>A (n.454-28G>A)
c.527-25972G>A (n.527-25972G>A)
 dbSNP gnomAD v4
6g.136872170G>CCA2578751828PEX7c.748-28G>C (n.748-28G>C)
c.*13-28G>C (n.*13-28G>C)
c.436-28G>C
c.634-28G>C (n.634-28G>C)
c.753-28G>C (n.753-28G>C)
c.628-28G>C (n.628-28G>C)
c.454-28G>C (n.454-28G>C)
c.527-25972G>C (n.527-25972G>C)
6g.136872170G>TCA4017735PEX7c.748-28G>T (n.748-28G>T)
c.*13-28G>T (n.*13-28G>T)
c.436-28G>T
c.634-28G>T (n.634-28G>T)
c.753-28G>T (n.753-28G>T)
c.628-28G>T (n.628-28G>T)
c.454-28G>T (n.454-28G>T)
c.527-25972G>T (n.527-25972G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136872170_136872171insTCA2680490673PEX7c.748-28_748-27insT (n.748-28_748-27insT)
c.*13-28_*13-27insT (n.*13-28_*13-27insT)
c.436-28_436-27insT
c.634-28_634-27insT (n.634-28_634-27insT)
c.753-28_753-27insT (n.753-28_753-27insT)
c.628-28_628-27insT (n.628-28_628-27insT)
c.454-28_454-27insT (n.454-28_454-27insT)
c.527-25972_527-25971insT (n.527-25972_527-25971insT)
 gnomAD v4
6g.136872171G>TCA819535209PEX7c.748-27G>T (n.748-27G>T)
c.*13-27G>T (n.*13-27G>T)
c.436-27G>T
c.634-27G>T (n.634-27G>T)
c.753-27G>T (n.753-27G>T)
c.628-27G>T (n.628-27G>T)
c.454-27G>T (n.454-27G>T)
c.527-25971G>T (n.527-25971G>T)
 dbSNP gnomAD v3 gnomAD v4
6g.136872171_136872172insGTCA4017740PEX7c.748-27_748-26insGT (n.748-27_748-26insGT)
c.*13-27_*13-26insGT (n.*13-27_*13-26insGT)
c.436-27_436-26insGT
c.634-27_634-26insGT (n.634-27_634-26insGT)
c.753-27_753-26insGT (n.753-27_753-26insGT)
c.628-27_628-26insGT (n.628-27_628-26insGT)
c.454-27_454-26insGT (n.454-27_454-26insGT)
c.527-25971_527-25970insGT (n.527-25971_527-25970insGT)
 dbSNP ExAC gnomAD v2
6g.136872171_136872172insGTTCA4017739PEX7c.748-27_748-26insGTT (n.748-27_748-26insGTT)
c.*13-27_*13-26insGTT (n.*13-27_*13-26insGTT)
c.436-27_436-26insGTT
c.634-27_634-26insGTT (n.634-27_634-26insGTT)
c.753-27_753-26insGTT (n.753-27_753-26insGTT)
c.628-27_628-26insGTT (n.628-27_628-26insGTT)
c.454-27_454-26insGTT (n.454-27_454-26insGTT)
c.527-25971_527-25970insGTT (n.527-25971_527-25970insGTT)
 dbSNP ExAC gnomAD v2
6g.136872171_136872172insGTTTCA4017738PEX7c.748-27_748-26insGTTT (n.748-27_748-26insGTTT)
c.*13-27_*13-26insGTTT (n.*13-27_*13-26insGTTT)
c.436-27_436-26insGTTT
c.634-27_634-26insGTTT (n.634-27_634-26insGTTT)
c.753-27_753-26insGTTT (n.753-27_753-26insGTTT)
c.628-27_628-26insGTTT (n.628-27_628-26insGTTT)
c.454-27_454-26insGTTT (n.454-27_454-26insGTTT)
c.527-25971_527-25970insGTTT (n.527-25971_527-25970insGTTT)
 dbSNP ExAC
6g.136872172T>ACA2680490678PEX7c.748-26T>A (n.748-26T>A)
c.*13-26T>A (n.*13-26T>A)
c.436-26T>A
c.634-26T>A (n.634-26T>A)
c.753-26T>A (n.753-26T>A)
c.628-26T>A (n.628-26T>A)
c.454-26T>A (n.454-26T>A)
c.527-25970T>A (n.527-25970T>A)
 gnomAD v4
6g.136872172T>GCA4017742PEX7c.748-26T>G (n.748-26T>G)
c.*13-26T>G (n.*13-26T>G)
c.436-26T>G
c.634-26T>G (n.634-26T>G)
c.753-26T>G (n.753-26T>G)
c.628-26T>G (n.628-26T>G)
c.454-26T>G (n.454-26T>G)
c.527-25970T>G (n.527-25970T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136872181_136872182insTTTTTTTTTTTCA2680490680PEX7c.748-17_748-16insTTTTTTTTTTT (n.748-17_748-16insTTTTTTTTTTT)
c.*13-17_*13-16insTTTTTTTTTTT (n.*13-17_*13-16insTTTTTTTTTTT)
c.436-17_436-16insTTTTTTTTTTT
c.634-17_634-16insTTTTTTTTTTT (n.634-17_634-16insTTTTTTTTTTT)
c.753-17_753-16insTTTTTTTTTTT (n.753-17_753-16insTTTTTTTTTTT)
c.628-17_628-16insTTTTTTTTTTT (n.628-17_628-16insTTTTTTTTTTT)
c.454-17_454-16insTTTTTTTTTTT (n.454-17_454-16insTTTTTTTTTTT)
c.527-25961_527-25960insTTTTTTTTTTT (n.527-25961_527-25960insTTTTTTTTTTT)
 gnomAD v4
6g.136872181_136872182insTTTTTTTTTTTTTTTCA2773214581PEX7c.748-17_748-16insTTTTTTTTTTTTTTT (n.748-17_748-16insTTTTTTTTTTTTTTT)
c.*13-17_*13-16insTTTTTTTTTTTTTTT (n.*13-17_*13-16insTTTTTTTTTTTTTTT)
c.436-17_436-16insTTTTTTTTTTTTTTT
c.634-17_634-16insTTTTTTTTTTTTTTT (n.634-17_634-16insTTTTTTTTTTTTTTT)
c.753-17_753-16insTTTTTTTTTTTTTTT (n.753-17_753-16insTTTTTTTTTTTTTTT)
c.628-17_628-16insTTTTTTTTTTTTTTT (n.628-17_628-16insTTTTTTTTTTTTTTT)
c.454-17_454-16insTTTTTTTTTTTTTTT (n.454-17_454-16insTTTTTTTTTTTTTTT)
c.527-25961_527-25960insTTTTTTTTTTTTTTT (n.527-25961_527-25960insTTTTTTTTTTTTTTT)
6g.136872181_136872182insTTTTTTTTTTTTTTTTTTCA2773214580PEX7c.748-17_748-16insTTTTTTTTTTTTTTTTTT (n.748-17_748-16insTTTTTTTTTTTTTTTTTT)
c.*13-17_*13-16insTTTTTTTTTTTTTTTTTT (n.*13-17_*13-16insTTTTTTTTTTTTTTTTTT)
c.436-17_436-16insTTTTTTTTTTTTTTTTTT
c.634-17_634-16insTTTTTTTTTTTTTTTTTT (n.634-17_634-16insTTTTTTTTTTTTTTTTTT)
c.753-17_753-16insTTTTTTTTTTTTTTTTTT (n.753-17_753-16insTTTTTTTTTTTTTTTTTT)
c.628-17_628-16insTTTTTTTTTTTTTTTTTT (n.628-17_628-16insTTTTTTTTTTTTTTTTTT)
c.454-17_454-16insTTTTTTTTTTTTTTTTTT (n.454-17_454-16insTTTTTTTTTTTTTTTTTT)
c.527-25961_527-25960insTTTTTTTTTTTTTTTTTT (n.527-25961_527-25960insTTTTTTTTTTTTTTTTTT)
6g.136872181_136872182insTTTTTTTTTTTTTTTTTTTCA2680490679PEX7c.748-17_748-16insTTTTTTTTTTTTTTTTTTT (n.748-17_748-16insTTTTTTTTTTTTTTTTTTT)
c.*13-17_*13-16insTTTTTTTTTTTTTTTTTTT (n.*13-17_*13-16insTTTTTTTTTTTTTTTTTTT)
c.436-17_436-16insTTTTTTTTTTTTTTTTTTT
c.634-17_634-16insTTTTTTTTTTTTTTTTTTT (n.634-17_634-16insTTTTTTTTTTTTTTTTTTT)
c.753-17_753-16insTTTTTTTTTTTTTTTTTTT (n.753-17_753-16insTTTTTTTTTTTTTTTTTTT)
c.628-17_628-16insTTTTTTTTTTTTTTTTTTT (n.628-17_628-16insTTTTTTTTTTTTTTTTTTT)
c.454-17_454-16insTTTTTTTTTTTTTTTTTTT (n.454-17_454-16insTTTTTTTTTTTTTTTTTTT)
c.527-25961_527-25960insTTTTTTTTTTTTTTTTTTT (n.527-25961_527-25960insTTTTTTTTTTTTTTTTTTT)
 gnomAD v4
6g.136872181_136872182insTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA2680490686PEX7c.748-17_748-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.748-17_748-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*13-17_*13-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*13-17_*13-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.436-17_436-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.634-17_634-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.634-17_634-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.753-17_753-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.753-17_753-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.628-17_628-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.628-17_628-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.454-17_454-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.454-17_454-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.527-25961_527-25960insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.527-25961_527-25960insTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v4
6g.136872181_136872182insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA2497184237PEX7c.748-17_748-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.748-17_748-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*13-17_*13-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*13-17_*13-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.436-17_436-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.634-17_634-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.634-17_634-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.753-17_753-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.753-17_753-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.628-17_628-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.628-17_628-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.454-17_454-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.454-17_454-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.527-25961_527-25960insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.527-25961_527-25960insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
 dbSNP
6g.136872181_136872182insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA2680490674PEX7c.748-17_748-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.748-17_748-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*13-17_*13-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*13-17_*13-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.436-17_436-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.634-17_634-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.634-17_634-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.753-17_753-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.753-17_753-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.628-17_628-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.628-17_628-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.454-17_454-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.454-17_454-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.527-25961_527-25960insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.527-25961_527-25960insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v4
6g.136872181dupCA4017736PEX7c.748-17dup (n.748-17dup)
c.*13-17dup (n.*13-17dup)
c.436-17dup
c.634-17dup (n.634-17dup)
c.753-17dup (n.753-17dup)
c.628-17dup (n.628-17dup)
c.454-17dup (n.454-17dup)
c.527-25961dup (n.527-25961dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136872180_136872181dupCA570574042PEX7c.748-18_748-17dup (n.748-18_748-17dup)
c.*13-18_*13-17dup (n.*13-18_*13-17dup)
c.436-18_436-17dup
c.634-18_634-17dup (n.634-18_634-17dup)
c.753-18_753-17dup (n.753-18_753-17dup)
c.628-18_628-17dup (n.628-18_628-17dup)
c.454-18_454-17dup (n.454-18_454-17dup)
c.527-25962_527-25961dup (n.527-25962_527-25961dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.136872179_136872181dupCA1094890188PEX7c.748-19_748-17dup (n.748-19_748-17dup)
c.*13-19_*13-17dup (n.*13-19_*13-17dup)
c.436-19_436-17dup
c.634-19_634-17dup (n.634-19_634-17dup)
c.753-19_753-17dup (n.753-19_753-17dup)
c.628-19_628-17dup (n.628-19_628-17dup)
c.454-19_454-17dup (n.454-19_454-17dup)
c.527-25963_527-25961dup (n.527-25963_527-25961dup)
 gnomAD v3 gnomAD v4
6g.136872178_136872181dupCA2680490683PEX7c.748-20_748-17dup (n.748-20_748-17dup)
c.*13-20_*13-17dup (n.*13-20_*13-17dup)
c.436-20_436-17dup
c.634-20_634-17dup (n.634-20_634-17dup)
c.753-20_753-17dup (n.753-20_753-17dup)
c.628-20_628-17dup (n.628-20_628-17dup)
c.454-20_454-17dup (n.454-20_454-17dup)
c.527-25964_527-25961dup (n.527-25964_527-25961dup)
 gnomAD v4
6g.136872176_136872181dupCA2680490682PEX7c.748-22_748-17dup (n.748-22_748-17dup)
c.*13-22_*13-17dup (n.*13-22_*13-17dup)
c.436-22_436-17dup
c.634-22_634-17dup (n.634-22_634-17dup)
c.753-22_753-17dup (n.753-22_753-17dup)
c.628-22_628-17dup (n.628-22_628-17dup)
c.454-22_454-17dup (n.454-22_454-17dup)
c.527-25966_527-25961dup (n.527-25966_527-25961dup)
 gnomAD v4
6g.136872175_136872181dupCA1094890185PEX7c.748-23_748-17dup (n.748-23_748-17dup)
c.*13-23_*13-17dup (n.*13-23_*13-17dup)
c.436-23_436-17dup
c.634-23_634-17dup (n.634-23_634-17dup)
c.753-23_753-17dup (n.753-23_753-17dup)
c.628-23_628-17dup (n.628-23_628-17dup)
c.454-23_454-17dup (n.454-23_454-17dup)
c.527-25967_527-25961dup (n.527-25967_527-25961dup)
 gnomAD v3 gnomAD v4
6g.136872174_136872181dupCA2773214585PEX7c.748-24_748-17dup (n.748-24_748-17dup)
c.*13-24_*13-17dup (n.*13-24_*13-17dup)
c.436-24_436-17dup
c.634-24_634-17dup (n.634-24_634-17dup)
c.753-24_753-17dup (n.753-24_753-17dup)
c.628-24_628-17dup (n.628-24_628-17dup)
c.454-24_454-17dup (n.454-24_454-17dup)
c.527-25968_527-25961dup (n.527-25968_527-25961dup)
6g.136872173_136872181dupCA2680490681PEX7c.748-25_748-17dup (n.748-25_748-17dup)
c.*13-25_*13-17dup (n.*13-25_*13-17dup)
c.436-25_436-17dup
c.634-25_634-17dup (n.634-25_634-17dup)
c.753-25_753-17dup (n.753-25_753-17dup)
c.628-25_628-17dup (n.628-25_628-17dup)
c.454-25_454-17dup (n.454-25_454-17dup)
c.527-25969_527-25961dup (n.527-25969_527-25961dup)
 gnomAD v4
6g.136872172_136872181dupCA917869147PEX7c.748-26_748-17dup (n.748-26_748-17dup)
c.*13-26_*13-17dup (n.*13-26_*13-17dup)
c.436-26_436-17dup
c.634-26_634-17dup (n.634-26_634-17dup)
c.753-26_753-17dup (n.753-26_753-17dup)
c.628-26_628-17dup (n.628-26_628-17dup)
c.454-26_454-17dup (n.454-26_454-17dup)
c.527-25970_527-25961dup (n.527-25970_527-25961dup)
 dbSNP gnomAD v3 gnomAD v4
6g.136872181delCA4017737PEX7c.748-17del (n.748-17del)
c.*13-17del (n.*13-17del)
c.436-17del
c.634-17del (n.634-17del)
c.753-17del (n.753-17del)
c.628-17del (n.628-17del)
c.454-17del (n.454-17del)
c.527-25961del (n.527-25961del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136872180_136872181delCA2680490676PEX7c.748-18_748-17del (n.748-18_748-17del)
c.*13-18_*13-17del (n.*13-18_*13-17del)
c.436-18_436-17del
c.634-18_634-17del (n.634-18_634-17del)
c.753-18_753-17del (n.753-18_753-17del)
c.628-18_628-17del (n.628-18_628-17del)
c.454-18_454-17del (n.454-18_454-17del)
c.527-25962_527-25961del (n.527-25962_527-25961del)
 gnomAD v4
6g.136872179_136872181delCA819535242PEX7c.748-19_748-17del (n.748-19_748-17del)
c.*13-19_*13-17del (n.*13-19_*13-17del)
c.436-19_436-17del
c.634-19_634-17del (n.634-19_634-17del)
c.753-19_753-17del (n.753-19_753-17del)
c.628-19_628-17del (n.628-19_628-17del)
c.454-19_454-17del (n.454-19_454-17del)
c.527-25963_527-25961del (n.527-25963_527-25961del)
 dbSNP gnomAD v3 gnomAD v4
6g.136872178_136872181delCA2680490677PEX7c.748-20_748-17del (n.748-20_748-17del)
c.*13-20_*13-17del (n.*13-20_*13-17del)
c.436-20_436-17del
c.634-20_634-17del (n.634-20_634-17del)
c.753-20_753-17del (n.753-20_753-17del)
c.628-20_628-17del (n.628-20_628-17del)
c.454-20_454-17del (n.454-20_454-17del)
c.527-25964_527-25961del (n.527-25964_527-25961del)
 dbSNP gnomAD v4
6g.136872182_136872192delCA4017741PEX7c.748-16_748-6del (n.748-16_748-6del)
c.*13-16_*13-6del (n.*13-16_*13-6del)
c.436-16_436-6del
c.634-16_634-6del (n.634-16_634-6del)
c.753-16_753-6del (n.753-16_753-6del)
c.628-16_628-6del (n.628-16_628-6del)
c.454-16_454-6del (n.454-16_454-6del)
c.527-25960_527-25950del (n.527-25960_527-25950del)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.136872172_136872173insCCA2680490688PEX7c.748-26_748-25insC (n.748-26_748-25insC)
c.*13-26_*13-25insC (n.*13-26_*13-25insC)
c.436-26_436-25insC
c.634-26_634-25insC (n.634-26_634-25insC)
c.753-26_753-25insC (n.753-26_753-25insC)
c.628-26_628-25insC (n.628-26_628-25insC)
c.454-26_454-25insC (n.454-26_454-25insC)
c.527-25970_527-25969insC (n.527-25970_527-25969insC)
 gnomAD v4
6g.136872173T>ACA2578751840PEX7c.748-25T>A (n.748-25T>A)
c.*13-25T>A (n.*13-25T>A)
c.436-25T>A
c.634-25T>A (n.634-25T>A)
c.753-25T>A (n.753-25T>A)
c.628-25T>A (n.628-25T>A)
c.454-25T>A (n.454-25T>A)
c.527-25969T>A (n.527-25969T>A)
 gnomAD v4
6g.136872173T>CCA2680490687PEX7c.748-25T>C (n.748-25T>C)
c.*13-25T>C (n.*13-25T>C)
c.436-25T>C
c.634-25T>C (n.634-25T>C)
c.753-25T>C (n.753-25T>C)
c.628-25T>C (n.628-25T>C)
c.454-25T>C (n.454-25T>C)
c.527-25969T>C (n.527-25969T>C)
 gnomAD v4
6g.136872174T>CCA148202477PEX7c.748-24T>C (n.748-24T>C)
c.*13-24T>C (n.*13-24T>C)
c.436-24T>C
c.634-24T>C (n.634-24T>C)
c.753-24T>C (n.753-24T>C)
c.628-24T>C (n.628-24T>C)
c.454-24T>C (n.454-24T>C)
c.527-25968T>C (n.527-25968T>C)
 dbSNP
6g.136872174T>GCA2713128038PEX7c.748-24T>G (n.748-24T>G)
c.*13-24T>G (n.*13-24T>G)
c.436-24T>G
c.634-24T>G (n.634-24T>G)
c.753-24T>G (n.753-24T>G)
c.628-24T>G (n.628-24T>G)
c.454-24T>G (n.454-24T>G)
c.527-25968T>G (n.527-25968T>G)
 dbSNP
6g.136872175T>CCA570574043PEX7c.748-23T>C (n.748-23T>C)
c.*13-23T>C (n.*13-23T>C)
c.436-23T>C
c.634-23T>C (n.634-23T>C)
c.753-23T>C (n.753-23T>C)
c.628-23T>C (n.628-23T>C)
c.454-23T>C (n.454-23T>C)
c.527-25967T>C (n.527-25967T>C)
 dbSNP gnomAD v2 gnomAD v4
6g.136872176T>CCA4017743PEX7c.748-22T>C (n.748-22T>C)
c.*13-22T>C (n.*13-22T>C)
c.436-22T>C
c.634-22T>C (n.634-22T>C)
c.753-22T>C (n.753-22T>C)
c.628-22T>C (n.628-22T>C)
c.454-22T>C (n.454-22T>C)
c.527-25966T>C (n.527-25966T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136872176T>GCA2680490690PEX7c.748-22T>G (n.748-22T>G)
c.*13-22T>G (n.*13-22T>G)
c.436-22T>G
c.634-22T>G (n.634-22T>G)
c.753-22T>G (n.753-22T>G)
c.628-22T>G (n.628-22T>G)
c.454-22T>G (n.454-22T>G)
c.527-25966T>G (n.527-25966T>G)
 gnomAD v4
6g.136872177T>ACA148202484PEX7c.748-21T>A (n.748-21T>A)
c.*13-21T>A (n.*13-21T>A)
c.436-21T>A
c.634-21T>A (n.634-21T>A)
c.753-21T>A (n.753-21T>A)
c.628-21T>A (n.628-21T>A)
c.454-21T>A (n.454-21T>A)
c.527-25965T>A (n.527-25965T>A)
 dbSNP gnomAD v4
6g.136872177T>CCA2680490691PEX7c.748-21T>C (n.748-21T>C)
c.*13-21T>C (n.*13-21T>C)
c.436-21T>C
c.634-21T>C (n.634-21T>C)
c.753-21T>C (n.753-21T>C)
c.628-21T>C (n.628-21T>C)
c.454-21T>C (n.454-21T>C)
c.527-25965T>C (n.527-25965T>C)
 gnomAD v4
6g.136872178T>ACA2680490692PEX7c.748-20T>A (n.748-20T>A)
c.*13-20T>A (n.*13-20T>A)
c.436-20T>A
c.634-20T>A (n.634-20T>A)
c.753-20T>A (n.753-20T>A)
c.628-20T>A (n.628-20T>A)
c.454-20T>A (n.454-20T>A)
c.527-25964T>A (n.527-25964T>A)
 gnomAD v4
6g.136872178T>CCA2680490693PEX7c.748-20T>C (n.748-20T>C)
c.*13-20T>C (n.*13-20T>C)
c.436-20T>C
c.634-20T>C (n.634-20T>C)
c.753-20T>C (n.753-20T>C)
c.628-20T>C (n.628-20T>C)
c.454-20T>C (n.454-20T>C)
c.527-25964T>C (n.527-25964T>C)
 gnomAD v4
6g.136872179T>CCA2680490695PEX7c.748-19T>C (n.748-19T>C)
c.*13-19T>C (n.*13-19T>C)
c.436-19T>C
c.634-19T>C (n.634-19T>C)
c.753-19T>C (n.753-19T>C)
c.628-19T>C (n.628-19T>C)
c.454-19T>C (n.454-19T>C)
c.527-25963T>C (n.527-25963T>C)
 gnomAD v4
6g.136872182_136872185delCA2680490696PEX7c.748-16_748-13del (n.748-16_748-13del)
c.*13-16_*13-13del (n.*13-16_*13-13del)
c.436-16_436-13del
c.634-16_634-13del (n.634-16_634-13del)
c.753-16_753-13del (n.753-16_753-13del)
c.628-16_628-13del (n.628-16_628-13del)
c.454-16_454-13del (n.454-16_454-13del)
c.527-25960_527-25957del (n.527-25960_527-25957del)
 gnomAD v4
6g.136872179_136872180insCCA2680490698PEX7c.748-19_748-18insC (n.748-19_748-18insC)
c.*13-19_*13-18insC (n.*13-19_*13-18insC)
c.436-19_436-18insC
c.634-19_634-18insC (n.634-19_634-18insC)
c.753-19_753-18insC (n.753-19_753-18insC)
c.628-19_628-18insC (n.628-19_628-18insC)
c.454-19_454-18insC (n.454-19_454-18insC)
c.527-25963_527-25962insC (n.527-25963_527-25962insC)
 gnomAD v4
6g.136872180T>CCA2680490699PEX7c.748-18T>C (n.748-18T>C)
c.*13-18T>C (n.*13-18T>C)
c.436-18T>C
c.634-18T>C (n.634-18T>C)
c.753-18T>C (n.753-18T>C)
c.628-18T>C (n.628-18T>C)
c.454-18T>C (n.454-18T>C)
c.527-25962T>C (n.527-25962T>C)
 gnomAD v4
6g.136872180_136872181insCTCA2680490700PEX7c.748-18_748-17insCT (n.748-18_748-17insCT)
c.*13-18_*13-17insCT (n.*13-18_*13-17insCT)
c.436-18_436-17insCT
c.634-18_634-17insCT (n.634-18_634-17insCT)
c.753-18_753-17insCT (n.753-18_753-17insCT)
c.628-18_628-17insCT (n.628-18_628-17insCT)
c.454-18_454-17insCT (n.454-18_454-17insCT)
c.527-25962_527-25961insCT (n.527-25962_527-25961insCT)
 gnomAD v4
6g.136872182_136872184delCA2573140587PEX7c.748-16_748-14del (n.748-16_748-14del)
c.*13-16_*13-14del (n.*13-16_*13-14del)
c.436-16_436-14del
c.634-16_634-14del (n.634-16_634-14del)
c.753-16_753-14del (n.753-16_753-14del)
c.628-16_628-14del (n.628-16_628-14del)
c.454-16_454-14del (n.454-16_454-14del)
c.527-25960_527-25958del (n.527-25960_527-25958del)
 ClinVar dbSNP gnomAD v4
6g.136872180_136872181insCCA2680490701PEX7c.748-18_748-17insC (n.748-18_748-17insC)
c.*13-18_*13-17insC (n.*13-18_*13-17insC)
c.436-18_436-17insC
c.634-18_634-17insC (n.634-18_634-17insC)
c.753-18_753-17insC (n.753-18_753-17insC)
c.628-18_628-17insC (n.628-18_628-17insC)
c.454-18_454-17insC (n.454-18_454-17insC)
c.527-25962_527-25961insC (n.527-25962_527-25961insC)
 dbSNP gnomAD v4
6g.136872181T>ACA2680490702PEX7c.748-17T>A (n.748-17T>A)
c.*13-17T>A (n.*13-17T>A)
c.436-17T>A
c.634-17T>A (n.634-17T>A)
c.753-17T>A (n.753-17T>A)
c.628-17T>A (n.628-17T>A)
c.454-17T>A (n.454-17T>A)
c.527-25961T>A (n.527-25961T>A)
 gnomAD v4
6g.136872181T>CCA570574045PEX7c.748-17T>C (n.748-17T>C)
c.*13-17T>C (n.*13-17T>C)
c.436-17T>C
c.634-17T>C (n.634-17T>C)
c.753-17T>C (n.753-17T>C)
c.628-17T>C (n.628-17T>C)
c.454-17T>C (n.454-17T>C)
c.527-25961T>C (n.527-25961T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.136872182_136872183delCA570574044PEX7c.748-16_748-15del (n.748-16_748-15del)
c.*13-16_*13-15del (n.*13-16_*13-15del)
c.436-16_436-15del
c.634-16_634-15del (n.634-16_634-15del)
c.753-16_753-15del (n.753-16_753-15del)
c.628-16_628-15del (n.628-16_628-15del)
c.454-16_454-15del (n.454-16_454-15del)
c.527-25960_527-25959del (n.527-25960_527-25959del)
 dbSNP gnomAD v2 gnomAD v4
6g.136872181_136872182insACA2773214597PEX7c.748-17_748-16insA (n.748-17_748-16insA)
c.*13-17_*13-16insA (n.*13-17_*13-16insA)
c.436-17_436-16insA
c.634-17_634-16insA (n.634-17_634-16insA)
c.753-17_753-16insA (n.753-17_753-16insA)
c.628-17_628-16insA (n.628-17_628-16insA)
c.454-17_454-16insA (n.454-17_454-16insA)
c.527-25961_527-25960insA (n.527-25961_527-25960insA)
6g.136872181_136872182insTCCA2578751852PEX7c.748-17_748-16insTC (n.748-17_748-16insTC)
c.*13-17_*13-16insTC (n.*13-17_*13-16insTC)
c.436-17_436-16insTC
c.634-17_634-16insTC (n.634-17_634-16insTC)
c.753-17_753-16insTC (n.753-17_753-16insTC)
c.628-17_628-16insTC (n.628-17_628-16insTC)
c.454-17_454-16insTC (n.454-17_454-16insTC)
c.527-25961_527-25960insTC (n.527-25961_527-25960insTC)
6g.136872182delCA452228766PEX7c.748-16del (n.748-16del)
c.*13-16del (n.*13-16del)
c.436-16del
c.634-16del (n.634-16del)
c.753-16del (n.753-16del)
c.628-16del (n.628-16del)
c.454-16del (n.454-16del)
c.527-25960del (n.527-25960del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.136872182C>ACA148202486PEX7c.748-16C>A (n.748-16C>A)
c.*13-16C>A (n.*13-16C>A)
c.436-16C>A
c.634-16C>A (n.634-16C>A)
c.753-16C>A (n.753-16C>A)
c.628-16C>A (n.628-16C>A)
c.454-16C>A (n.454-16C>A)
c.527-25960C>A (n.527-25960C>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.136872182C>GCA2680490703PEX7c.748-16C>G (n.748-16C>G)
c.*13-16C>G (n.*13-16C>G)
c.436-16C>G
c.634-16C>G (n.634-16C>G)
c.753-16C>G (n.753-16C>G)
c.628-16C>G (n.628-16C>G)
c.454-16C>G (n.454-16C>G)
c.527-25960C>G (n.527-25960C>G)
 gnomAD v4
6g.136872182C>TCA4017744PEX7c.748-16C>T (n.748-16C>T)
c.*13-16C>T (n.*13-16C>T)
c.436-16C>T
c.634-16C>T (n.634-16C>T)
c.753-16C>T (n.753-16C>T)
c.628-16C>T (n.628-16C>T)
c.454-16C>T (n.454-16C>T)
c.527-25960C>T (n.527-25960C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
6g.136872183T>CCA148202514PEX7c.748-15T>C (n.748-15T>C)
c.*13-15T>C (n.*13-15T>C)
c.436-15T>C
c.634-15T>C (n.634-15T>C)
c.753-15T>C (n.753-15T>C)
c.628-15T>C (n.628-15T>C)
c.454-15T>C (n.454-15T>C)
c.527-25959T>C (n.527-25959T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.136872193_136872194insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA2680490705PEX7c.748-5_748-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.748-5_748-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*13-5_*13-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*13-5_*13-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.436-5_436-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.634-5_634-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.634-5_634-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.753-5_753-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.753-5_753-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.628-5_628-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.628-5_628-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.454-5_454-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.454-5_454-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.527-25949_527-25948insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.527-25949_527-25948insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v4
6g.136872193_136872194insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTCA2680490706PEX7c.748-5_748-4insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT (n.748-5_748-4insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT)
c.*13-5_*13-4insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT (n.*13-5_*13-4insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT)
c.436-5_436-4insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT
c.634-5_634-4insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT (n.634-5_634-4insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT)
c.753-5_753-4insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT (n.753-5_753-4insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT)
c.628-5_628-4insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT (n.628-5_628-4insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT)
c.454-5_454-4insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT (n.454-5_454-4insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT)
c.527-25949_527-25948insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT (n.527-25949_527-25948insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v4
6g.136872193dupCA203568PEX7c.748-5dup (n.748-5dup)
c.*13-5dup (n.*13-5dup)
c.436-5dup
c.634-5dup (n.634-5dup)
c.753-5dup (n.753-5dup)
c.628-5dup (n.628-5dup)
c.454-5dup (n.454-5dup)
c.527-25949dup (n.527-25949dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136872192_136872193dupCA148202508PEX7c.748-6_748-5dup (n.748-6_748-5dup)
c.*13-6_*13-5dup (n.*13-6_*13-5dup)
c.436-6_436-5dup
c.634-6_634-5dup (n.634-6_634-5dup)
c.753-6_753-5dup (n.753-6_753-5dup)
c.628-6_628-5dup (n.628-6_628-5dup)
c.454-6_454-5dup (n.454-6_454-5dup)
c.527-25950_527-25949dup (n.527-25950_527-25949dup)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.136872191_136872193dupCA2680490709PEX7c.748-7_748-5dup (n.748-7_748-5dup)
c.*13-7_*13-5dup (n.*13-7_*13-5dup)
c.436-7_436-5dup
c.634-7_634-5dup (n.634-7_634-5dup)
c.753-7_753-5dup (n.753-7_753-5dup)
c.628-7_628-5dup (n.628-7_628-5dup)
c.454-7_454-5dup (n.454-7_454-5dup)
c.527-25951_527-25949dup (n.527-25951_527-25949dup)
 gnomAD v4
6g.136872190_136872193dupCA2680490707PEX7c.748-8_748-5dup (n.748-8_748-5dup)
c.*13-8_*13-5dup (n.*13-8_*13-5dup)
c.436-8_436-5dup
c.634-8_634-5dup (n.634-8_634-5dup)
c.753-8_753-5dup (n.753-8_753-5dup)
c.628-8_628-5dup (n.628-8_628-5dup)
c.454-8_454-5dup (n.454-8_454-5dup)
c.527-25952_527-25949dup (n.527-25952_527-25949dup)
 gnomAD v4
6g.136872193delCA203569PEX7c.748-5del (n.748-5del)
c.*13-5del (n.*13-5del)
c.436-5del
c.634-5del (n.634-5del)
c.753-5del (n.753-5del)
c.628-5del (n.628-5del)
c.454-5del (n.454-5del)
c.527-25949del (n.527-25949del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.136872192_136872193delCA4017745PEX7c.748-6_748-5del (n.748-6_748-5del)
c.*13-6_*13-5del (n.*13-6_*13-5del)
c.436-6_436-5del
c.634-6_634-5del (n.634-6_634-5del)
c.753-6_753-5del (n.753-6_753-5del)
c.628-6_628-5del (n.628-6_628-5del)
c.454-6_454-5del (n.454-6_454-5del)
c.527-25950_527-25949del (n.527-25950_527-25949del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136872191_136872193delCA2680490704PEX7c.748-7_748-5del (n.748-7_748-5del)
c.*13-7_*13-5del (n.*13-7_*13-5del)
c.436-7_436-5del
c.634-7_634-5del (n.634-7_634-5del)
c.753-7_753-5del (n.753-7_753-5del)
c.628-7_628-5del (n.628-7_628-5del)
c.454-7_454-5del (n.454-7_454-5del)
c.527-25951_527-25949del (n.527-25951_527-25949del)
 gnomAD v4
6g.136872183_136872184insCCA2680490711PEX7c.748-15_748-14insC (n.748-15_748-14insC)
c.*13-15_*13-14insC (n.*13-15_*13-14insC)
c.436-15_436-14insC
c.634-15_634-14insC (n.634-15_634-14insC)
c.753-15_753-14insC (n.753-15_753-14insC)
c.628-15_628-14insC (n.628-15_628-14insC)
c.454-15_454-14insC (n.454-15_454-14insC)
c.527-25959_527-25958insC (n.527-25959_527-25958insC)
 gnomAD v4
6g.136872184T>ACA570574048PEX7c.748-14T>A (n.748-14T>A)
c.*13-14T>A (n.*13-14T>A)
c.436-14T>A
c.634-14T>A (n.634-14T>A)
c.753-14T>A (n.753-14T>A)
c.628-14T>A (n.628-14T>A)
c.454-14T>A (n.454-14T>A)
c.527-25958T>A (n.527-25958T>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.136872184T>CCA651165053PEX7c.748-14T>C (n.748-14T>C)
c.*13-14T>C (n.*13-14T>C)
c.436-14T>C
c.634-14T>C (n.634-14T>C)
c.753-14T>C (n.753-14T>C)
c.628-14T>C (n.628-14T>C)
c.454-14T>C (n.454-14T>C)
c.527-25958T>C (n.527-25958T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
6g.136872184_136872185insCTCA2680490712PEX7c.748-14_748-13insCT (n.748-14_748-13insCT)
c.*13-14_*13-13insCT (n.*13-14_*13-13insCT)
c.436-14_436-13insCT
c.634-14_634-13insCT (n.634-14_634-13insCT)
c.753-14_753-13insCT (n.753-14_753-13insCT)
c.628-14_628-13insCT (n.628-14_628-13insCT)
c.454-14_454-13insCT (n.454-14_454-13insCT)
c.527-25958_527-25957insCT (n.527-25958_527-25957insCT)
 gnomAD v4
6g.136872185T>ACA570574050PEX7c.748-13T>A (n.748-13T>A)
c.*13-13T>A (n.*13-13T>A)
c.436-13T>A
c.634-13T>A (n.634-13T>A)
c.753-13T>A (n.753-13T>A)
c.628-13T>A (n.628-13T>A)
c.454-13T>A (n.454-13T>A)
c.527-25957T>A (n.527-25957T>A)
 dbSNP gnomAD v2 gnomAD v4
6g.136872185T>CCA4017746PEX7c.748-13T>C (n.748-13T>C)
c.*13-13T>C (n.*13-13T>C)
c.436-13T>C
c.634-13T>C (n.634-13T>C)
c.753-13T>C (n.753-13T>C)
c.628-13T>C (n.628-13T>C)
c.454-13T>C (n.454-13T>C)
c.527-25957T>C (n.527-25957T>C)
 ClinVar dbSNP ExAC
6g.136872186T>CCA2680490714PEX7c.748-12T>C (n.748-12T>C)
c.*13-12T>C (n.*13-12T>C)
c.436-12T>C
c.634-12T>C (n.634-12T>C)
c.753-12T>C (n.753-12T>C)
c.628-12T>C (n.628-12T>C)
c.454-12T>C (n.454-12T>C)
c.527-25956T>C (n.527-25956T>C)
 gnomAD v4
6g.136872187T>CCA819535335PEX7c.748-11T>C (n.748-11T>C)
c.*13-11T>C (n.*13-11T>C)
c.436-11T>C
c.634-11T>C (n.634-11T>C)
c.753-11T>C (n.753-11T>C)
c.628-11T>C (n.628-11T>C)
c.454-11T>C (n.454-11T>C)
c.527-25955T>C (n.527-25955T>C)
 dbSNP
6g.136872188T>CCA10626108PEX7c.748-10T>C (n.748-10T>C)
c.*13-10T>C (n.*13-10T>C)
c.436-10T>C
c.634-10T>C (n.634-10T>C)
c.753-10T>C (n.753-10T>C)
c.628-10T>C (n.628-10T>C)
c.454-10T>C (n.454-10T>C)
c.527-25954T>C (n.527-25954T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.136872189T>ACA2713126010PEX7c.748-9T>A (n.748-9T>A)
c.*13-9T>A (n.*13-9T>A)
c.436-9T>A
c.634-9T>A (n.634-9T>A)
c.753-9T>A (n.753-9T>A)
c.628-9T>A (n.628-9T>A)
c.454-9T>A (n.454-9T>A)
c.527-25953T>A (n.527-25953T>A)
 dbSNP
6g.136872189T>CCA4017747PEX7c.748-9T>C (n.748-9T>C)
c.*13-9T>C (n.*13-9T>C)
c.436-9T>C
c.634-9T>C (n.634-9T>C)
c.753-9T>C (n.753-9T>C)
c.628-9T>C (n.628-9T>C)
c.454-9T>C (n.454-9T>C)
c.527-25953T>C (n.527-25953T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136872189_136872190insCCA1094890223PEX7c.748-9_748-8insC (n.748-9_748-8insC)
c.*13-9_*13-8insC (n.*13-9_*13-8insC)
c.436-9_436-8insC
c.634-9_634-8insC (n.634-9_634-8insC)
c.753-9_753-8insC (n.753-9_753-8insC)
c.628-9_628-8insC (n.628-9_628-8insC)
c.454-9_454-8insC (n.454-9_454-8insC)
c.527-25953_527-25952insC (n.527-25953_527-25952insC)
 dbSNP gnomAD v3 gnomAD v4
6g.136872190T>ACA2713185408PEX7c.748-8T>A (n.748-8T>A)
c.*13-8T>A (n.*13-8T>A)
c.436-8T>A
c.634-8T>A (n.634-8T>A)
c.753-8T>A (n.753-8T>A)
c.628-8T>A (n.628-8T>A)
c.454-8T>A (n.454-8T>A)
c.527-25952T>A (n.527-25952T>A)
 dbSNP
6g.136872192T>CCA2680490715PEX7c.748-6T>C (n.748-6T>C)
c.*13-6T>C (n.*13-6T>C)
c.436-6T>C
c.634-6T>C (n.634-6T>C)
c.753-6T>C (n.753-6T>C)
c.628-6T>C (n.628-6T>C)
c.454-6T>C (n.454-6T>C)
c.527-25950T>C (n.527-25950T>C)
 gnomAD v4
6g.136872192T>GCA2580075144PEX7c.748-6T>G (n.748-6T>G)
c.*13-6T>G (n.*13-6T>G)
c.436-6T>G
c.634-6T>G (n.634-6T>G)
c.753-6T>G (n.753-6T>G)
c.628-6T>G (n.628-6T>G)
c.454-6T>G (n.454-6T>G)
c.527-25950T>G (n.527-25950T>G)
 ClinVar
6g.136872193T>CCA2680490716PEX7c.748-5T>C (n.748-5T>C)
c.*13-5T>C (n.*13-5T>C)
c.436-5T>C
c.634-5T>C (n.634-5T>C)
c.753-5T>C (n.753-5T>C)
c.628-5T>C (n.628-5T>C)
c.454-5T>C (n.454-5T>C)
c.527-25949T>C (n.527-25949T>C)
 gnomAD v4
6g.136872193T>GCA4017749PEX7c.748-5T>G (n.748-5T>G)
c.*13-5T>G (n.*13-5T>G)
c.436-5T>G
c.634-5T>G (n.634-5T>G)
c.753-5T>G (n.753-5T>G)
c.628-5T>G (n.628-5T>G)
c.454-5T>G (n.454-5T>G)
c.527-25949T>G (n.527-25949T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.136872194_136872198delCA2773214621PEX7c.748-4_748del
c.*13-4_*13del
c.436-4_436del
c.634-4_634del
c.753-4_753del
c.628-4_628del
c.454-4_454del
c.527-25948_527-25944del (n.527-25948_527-25944del)
6g.136872194delCA570574054PEX7c.748-4del (n.748-4del)
c.*13-4del (n.*13-4del)
c.436-4del
c.634-4del (n.634-4del)
c.753-4del (n.753-4del)
c.628-4del (n.628-4del)
c.454-4del (n.454-4del)
c.527-25948del (n.527-25948del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.136872194G>ACA2680490718PEX7c.748-4G>A (n.748-4G>A)
c.*13-4G>A (n.*13-4G>A)
c.436-4G>A
c.634-4G>A (n.634-4G>A)
c.753-4G>A (n.753-4G>A)
c.628-4G>A (n.628-4G>A)
c.454-4G>A (n.454-4G>A)
c.527-25948G>A (n.527-25948G>A)
 gnomAD v4
6g.136872194G>CCA2680490719PEX7c.748-4G>C (n.748-4G>C)
c.*13-4G>C (n.*13-4G>C)
c.436-4G>C
c.634-4G>C (n.634-4G>C)
c.753-4G>C (n.753-4G>C)
c.628-4G>C (n.628-4G>C)
c.454-4G>C (n.454-4G>C)
c.527-25948G>C (n.527-25948G>C)
 gnomAD v4
6g.136872194G>TCA4017750PEX7c.748-4G>T (n.748-4G>T)
c.*13-4G>T (n.*13-4G>T)
c.436-4G>T
c.634-4G>T (n.634-4G>T)
c.753-4G>T (n.753-4G>T)
c.628-4G>T (n.628-4G>T)
c.454-4G>T (n.454-4G>T)
c.527-25948G>T (n.527-25948G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136872194_136872197delCA4017748PEX7c.748-4_748-1del (n.748-4_748-1del)
c.*13-4_*13-1del (n.*13-4_*13-1del)
c.436-4_436-1del
c.634-4_634-1del (n.634-4_634-1del)
c.753-4_753-1del (n.753-4_753-1del)
c.628-4_628-1del (n.628-4_628-1del)
c.454-4_454-1del (n.454-4_454-1del)
c.527-25948_527-25945del (n.527-25948_527-25945del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136872195T>CCA2680490720PEX7c.748-3T>C (n.748-3T>C)
c.*13-3T>C (n.*13-3T>C)
c.436-3T>C
c.634-3T>C (n.634-3T>C)
c.753-3T>C (n.753-3T>C)
c.628-3T>C (n.628-3T>C)
c.454-3T>C (n.454-3T>C)
c.527-25947T>C (n.527-25947T>C)
 gnomAD v4
6g.136872196A>CCA365764379PEX7c.748-2A>C (n.748-2A>C)
c.*13-2A>C (n.*13-2A>C)
c.436-2A>C
c.634-2A>C (n.634-2A>C)
c.753-2A>C (n.753-2A>C)
c.628-2A>C (n.628-2A>C)
c.454-2A>C (n.454-2A>C)
c.527-25946A>C (n.527-25946A>C)
6g.136872196A>GCA16041019PEX7c.748-2A>G (n.748-2A>G)
c.*13-2A>G (n.*13-2A>G)
c.436-2A>G
c.634-2A>G (n.634-2A>G)
c.753-2A>G (n.753-2A>G)
c.628-2A>G (n.628-2A>G)
c.454-2A>G (n.454-2A>G)
c.527-25946A>G (n.527-25946A>G)
 ClinVar dbSNP gnomAD v4
6g.136872196A>TCA4017752PEX7c.748-2A>T (n.748-2A>T)
c.*13-2A>T (n.*13-2A>T)
c.436-2A>T
c.634-2A>T (n.634-2A>T)
c.753-2A>T (n.753-2A>T)
c.628-2A>T (n.628-2A>T)
c.454-2A>T (n.454-2A>T)
c.527-25946A>T (n.527-25946A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136872196_136872197delCA4017751PEX7c.748-2_748-1del (n.748-2_748-1del)
c.*13-2_*13-1del (n.*13-2_*13-1del)
c.436-2_436-1del
c.634-2_634-1del (n.634-2_634-1del)
c.753-2_753-1del (n.753-2_753-1del)
c.628-2_628-1del (n.628-2_628-1del)
c.454-2_454-1del (n.454-2_454-1del)
c.527-25946_527-25945del (n.527-25946_527-25945del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136872197G>ACA365764380PEX7c.748-1G>A (n.748-1G>A)
c.*13-1G>A (n.*13-1G>A)
c.436-1G>A
c.634-1G>A (n.634-1G>A)
c.753-1G>A (n.753-1G>A)
c.628-1G>A (n.628-1G>A)
c.454-1G>A (n.454-1G>A)
c.527-25945G>A (n.527-25945G>A)
6g.136872197G>CCA365764381PEX7c.748-1G>C (n.748-1G>C)
c.*13-1G>C (n.*13-1G>C)
c.436-1G>C
c.634-1G>C (n.634-1G>C)
c.753-1G>C (n.753-1G>C)
c.628-1G>C (n.628-1G>C)
c.454-1G>C (n.454-1G>C)
c.527-25945G>C (n.527-25945G>C)
6g.136872197G>TCA4017753PEX7c.748-1G>T (n.748-1G>T)
c.*13-1G>T (n.*13-1G>T)
c.436-1G>T
c.634-1G>T (n.634-1G>T)
c.753-1G>T (n.753-1G>T)
c.628-1G>T (n.628-1G>T)
c.454-1G>T (n.454-1G>T)
c.527-25945G>T (n.527-25945G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136872198T>ACA365764382PEX7c.748T>A (p.Phe250Ile)
c.*13T>A (n.*13T>A)
c.436T>A
c.634T>A (p.Phe212Ile)
c.753T>A (n.753T>A)
c.628T>A (p.Phe210Ile)
c.454T>A (p.Phe152Ile)
c.527-25944T>A (n.527-25944T>A)
6g.136872198T>CCA365764383PEX7c.748T>C (p.Phe250Leu)
c.*13T>C (n.*13T>C)
c.436T>C
c.634T>C (p.Phe212Leu)
c.753T>C (n.753T>C)
c.628T>C (p.Phe210Leu)
c.454T>C (p.Phe152Leu)
c.527-25944T>C (n.527-25944T>C)
6g.136872198T>GCA365764384PEX7c.748T>G (p.Phe250Val)
c.*13T>G (n.*13T>G)
c.436T>G
c.634T>G (p.Phe212Val)
c.753T>G (n.753T>G)
c.628T>G (p.Phe210Val)
c.454T>G (p.Phe152Val)
c.527-25944T>G (n.527-25944T>G)
6g.136872201_136872202insTTTTTTTCA2740791991PEX7c.751_752insTTTTTTT (p.Ser251PhefsTer16)
c.*16_*17insTTTTTTT (n.*16_*17insTTTTTTT)
c.439_440insTTTTTTT
c.637_638insTTTTTTT (p.Ser213PhefsTer16)
c.756_757insTTTTTTT (n.756_757insTTTTTTT)
c.631_632insTTTTTTT (p.Ser211PhefsTer16)
c.457_458insTTTTTTT (p.Ser153PhefsTer16)
c.527-25941_527-25940insTTTTTTT (n.527-25941_527-25940insTTTTTTT)
6g.136872201_136872202insTTTTTTTTTCA2604515750PEX7c.751_752insTTTTTTTTT (p.Phe250_Ser251insPhePhePhe)
c.*16_*17insTTTTTTTTT (n.*16_*17insTTTTTTTTT)
c.439_440insTTTTTTTTT
c.637_638insTTTTTTTTT (p.Phe212_Ser213insPhePhePhe)
c.756_757insTTTTTTTTT (n.756_757insTTTTTTTTT)
c.631_632insTTTTTTTTT (p.Phe210_Ser211insPhePhePhe)
c.457_458insTTTTTTTTT (p.Phe152_Ser153insPhePhePhe)
c.527-25941_527-25940insTTTTTTTTT (n.527-25941_527-25940insTTTTTTTTT)
 gnomAD v3 gnomAD v4
6g.136872201_136872202insTTTTTTTTTTCA570574060PEX7c.751_752insTTTTTTTTTT (p.Ser251PhefsTer17)
c.*16_*17insTTTTTTTTTT (n.*16_*17insTTTTTTTTTT)
c.439_440insTTTTTTTTTT
c.637_638insTTTTTTTTTT (p.Ser213PhefsTer17)
c.756_757insTTTTTTTTTT (n.756_757insTTTTTTTTTT)
c.631_632insTTTTTTTTTT (p.Ser211PhefsTer17)
c.457_458insTTTTTTTTTT (p.Ser153PhefsTer17)
c.527-25941_527-25940insTTTTTTTTTT (n.527-25941_527-25940insTTTTTTTTTT)
 gnomAD v2 gnomAD v3 gnomAD v4
6g.136872201_136872202insTTTTTTTTTTTCA570574061PEX7c.751_752insTTTTTTTTTTT (p.Ser251PhefsTer21)
c.*16_*17insTTTTTTTTTTT (n.*16_*17insTTTTTTTTTTT)
c.439_440insTTTTTTTTTTT
c.637_638insTTTTTTTTTTT (p.Ser213PhefsTer21)
c.756_757insTTTTTTTTTTT (n.756_757insTTTTTTTTTTT)
c.631_632insTTTTTTTTTTT (p.Ser211PhefsTer21)
c.457_458insTTTTTTTTTTT (p.Ser153PhefsTer21)
c.527-25941_527-25940insTTTTTTTTTTT (n.527-25941_527-25940insTTTTTTTTTTT)
 gnomAD v2 gnomAD v3 gnomAD v4
6g.136872201_136872202insTTTTTTTTTTTTTCA570574063PEX7c.751_752insTTTTTTTTTTTTT (p.Ser251PhefsTer18)
c.*16_*17insTTTTTTTTTTTTT (n.*16_*17insTTTTTTTTTTTTT)
c.439_440insTTTTTTTTTTTTT
c.637_638insTTTTTTTTTTTTT (p.Ser213PhefsTer18)
c.756_757insTTTTTTTTTTTTT (n.756_757insTTTTTTTTTTTTT)
c.631_632insTTTTTTTTTTTTT (p.Ser211PhefsTer18)
c.457_458insTTTTTTTTTTTTT (p.Ser153PhefsTer18)
c.527-25941_527-25940insTTTTTTTTTTTTT (n.527-25941_527-25940insTTTTTTTTTTTTT)
 gnomAD v2 gnomAD v3 gnomAD v4
6g.136872201_136872202insTTTTTTTTTTTTTTTCA1094890236PEX7c.751_752insTTTTTTTTTTTTTTT (p.Phe250_Ser251insPhePhePhePhePhe)
c.*16_*17insTTTTTTTTTTTTTTT (n.*16_*17insTTTTTTTTTTTTTTT)
c.439_440insTTTTTTTTTTTTTTT
c.637_638insTTTTTTTTTTTTTTT (p.Phe212_Ser213insPhePhePhePhePhe)
c.756_757insTTTTTTTTTTTTTTT (n.756_757insTTTTTTTTTTTTTTT)
c.631_632insTTTTTTTTTTTTTTT (p.Phe210_Ser211insPhePhePhePhePhe)
c.457_458insTTTTTTTTTTTTTTT (p.Phe152_Ser153insPhePhePhePhePhe)
c.527-25941_527-25940insTTTTTTTTTTTTTTT (n.527-25941_527-25940insTTTTTTTTTTTTTTT)
 gnomAD v3 gnomAD v4
6g.136872201_136872202insTTTTTTTTTTTTTTTTCA570574064PEX7c.751_752insTTTTTTTTTTTTTTTT (p.Ser251PhefsTer19)
c.*16_*17insTTTTTTTTTTTTTTTT (n.*16_*17insTTTTTTTTTTTTTTTT)
c.439_440insTTTTTTTTTTTTTTTT
c.637_638insTTTTTTTTTTTTTTTT (p.Ser213PhefsTer19)
c.756_757insTTTTTTTTTTTTTTTT (n.756_757insTTTTTTTTTTTTTTTT)
c.631_632insTTTTTTTTTTTTTTTT (p.Ser211PhefsTer19)
c.457_458insTTTTTTTTTTTTTTTT (p.Ser153PhefsTer19)
c.527-25941_527-25940insTTTTTTTTTTTTTTTT (n.527-25941_527-25940insTTTTTTTTTTTTTTTT)
 gnomAD v2
6g.136872201_136872202insTTTTTTTTTTTTTTTTTCA1094890238PEX7c.751_752insTTTTTTTTTTTTTTTTT (p.Ser251PhefsTer23)
c.*16_*17insTTTTTTTTTTTTTTTTT (n.*16_*17insTTTTTTTTTTTTTTTTT)
c.439_440insTTTTTTTTTTTTTTTTT
c.637_638insTTTTTTTTTTTTTTTTT (p.Ser213PhefsTer23)
c.756_757insTTTTTTTTTTTTTTTTT (n.756_757insTTTTTTTTTTTTTTTTT)
c.631_632insTTTTTTTTTTTTTTTTT (p.Ser211PhefsTer23)
c.457_458insTTTTTTTTTTTTTTTTT (p.Ser153PhefsTer23)
c.527-25941_527-25940insTTTTTTTTTTTTTTTTT (n.527-25941_527-25940insTTTTTTTTTTTTTTTTT)
 gnomAD v3 gnomAD v4
6g.136872201_136872202insTTTTTTTTTTTTTTTTTTTCA1094890239PEX7c.751_752insTTTTTTTTTTTTTTTTTTT (p.Ser251PhefsTer20)
c.*16_*17insTTTTTTTTTTTTTTTTTTT (n.*16_*17insTTTTTTTTTTTTTTTTTTT)
c.439_440insTTTTTTTTTTTTTTTTTTT
c.637_638insTTTTTTTTTTTTTTTTTTT (p.Ser213PhefsTer20)
c.756_757insTTTTTTTTTTTTTTTTTTT (n.756_757insTTTTTTTTTTTTTTTTTTT)
c.631_632insTTTTTTTTTTTTTTTTTTT (p.Ser211PhefsTer20)
c.457_458insTTTTTTTTTTTTTTTTTTT (p.Ser153PhefsTer20)
c.527-25941_527-25940insTTTTTTTTTTTTTTTTTTT (n.527-25941_527-25940insTTTTTTTTTTTTTTTTTTT)
 gnomAD v3 gnomAD v4
6g.136872201_136872202insTTTTTTTTTTTTTTTTTTTTCA2773214635PEX7c.751_752insTTTTTTTTTTTTTTTTTTTT (p.Ser251PhefsTer24)
c.*16_*17insTTTTTTTTTTTTTTTTTTTT (n.*16_*17insTTTTTTTTTTTTTTTTTTTT)
c.439_440insTTTTTTTTTTTTTTTTTTTT
c.637_638insTTTTTTTTTTTTTTTTTTTT (p.Ser213PhefsTer24)
c.756_757insTTTTTTTTTTTTTTTTTTTT (n.756_757insTTTTTTTTTTTTTTTTTTTT)
c.631_632insTTTTTTTTTTTTTTTTTTTT (p.Ser211PhefsTer24)
c.457_458insTTTTTTTTTTTTTTTTTTTT (p.Ser153PhefsTer24)
c.527-25941_527-25940insTTTTTTTTTTTTTTTTTTTT (n.527-25941_527-25940insTTTTTTTTTTTTTTTTTTTT)
6g.136872201_136872202insTTTTTTTTTTTTTTTTTTTTTTTTCA1094890240PEX7c.751_752insTTTTTTTTTTTTTTTTTTTTTTTT (p.Phe250_Ser251insPhePhePhePhePhePhePhePhe)
c.*16_*17insTTTTTTTTTTTTTTTTTTTTTTTT (n.*16_*17insTTTTTTTTTTTTTTTTTTTTTTTT)
c.439_440insTTTTTTTTTTTTTTTTTTTTTTTT
c.637_638insTTTTTTTTTTTTTTTTTTTTTTTT (p.Phe212_Ser213insPhePhePhePhePhePhePhePhe)
c.756_757insTTTTTTTTTTTTTTTTTTTTTTTT (n.756_757insTTTTTTTTTTTTTTTTTTTTTTTT)
c.631_632insTTTTTTTTTTTTTTTTTTTTTTTT (p.Phe210_Ser211insPhePhePhePhePhePhePhePhe)
c.457_458insTTTTTTTTTTTTTTTTTTTTTTTT (p.Phe152_Ser153insPhePhePhePhePhePhePhePhe)
c.527-25941_527-25940insTTTTTTTTTTTTTTTTTTTTTTTT (n.527-25941_527-25940insTTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v3 gnomAD v4
6g.136872201_136872202insTTTTTTTTTTTTTTTTTTTTTTTTTCA1094890241PEX7c.751_752insTTTTTTTTTTTTTTTTTTTTTTTTT (p.Ser251PhefsTer22)
c.*16_*17insTTTTTTTTTTTTTTTTTTTTTTTTT (n.*16_*17insTTTTTTTTTTTTTTTTTTTTTTTTT)
c.439_440insTTTTTTTTTTTTTTTTTTTTTTTTT
c.637_638insTTTTTTTTTTTTTTTTTTTTTTTTT (p.Ser213PhefsTer22)
c.756_757insTTTTTTTTTTTTTTTTTTTTTTTTT (n.756_757insTTTTTTTTTTTTTTTTTTTTTTTTT)
c.631_632insTTTTTTTTTTTTTTTTTTTTTTTTT (p.Ser211PhefsTer22)
c.457_458insTTTTTTTTTTTTTTTTTTTTTTTTT (p.Ser153PhefsTer22)
c.527-25941_527-25940insTTTTTTTTTTTTTTTTTTTTTTTTT (n.527-25941_527-25940insTTTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v3 gnomAD v4
6g.136872201_136872202insTTTTTTTTTTTTTTTTTTTTTTTTTTCA1094890242PEX7c.751_752insTTTTTTTTTTTTTTTTTTTTTTTTTT (p.Ser251PhefsTer26)
c.*16_*17insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*16_*17insTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.439_440insTTTTTTTTTTTTTTTTTTTTTTTTTT
c.637_638insTTTTTTTTTTTTTTTTTTTTTTTTTT (p.Ser213PhefsTer26)
c.756_757insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.756_757insTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.631_632insTTTTTTTTTTTTTTTTTTTTTTTTTT (p.Ser211PhefsTer26)
c.457_458insTTTTTTTTTTTTTTTTTTTTTTTTTT (p.Ser153PhefsTer26)
c.527-25941_527-25940insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.527-25941_527-25940insTTTTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v3 gnomAD v4
6g.136872201dupCA2739266181PEX7c.751dup (p.Ser251PhefsTer14)
c.*16dup (n.*16dup)
c.439dup
c.637dup (p.Ser213PhefsTer14)
c.756dup (n.756dup)
c.631dup (p.Ser211PhefsTer14)
c.457dup (p.Ser153PhefsTer14)
c.527-25941dup (n.527-25941dup)
 ClinVar
6g.136872199_136872201dupCA1094890234PEX7c.749_751dup (p.Phe250_Ser251insPhe)
c.*14_*16dup (n.*14_*16dup)
c.437_439dup
c.635_637dup (p.Phe212_Ser213insPhe)
c.754_756dup (n.754_756dup)
c.629_631dup (p.Phe210_Ser211insPhe)
c.455_457dup (p.Phe152_Ser153insPhe)
c.527-25943_527-25941dup (n.527-25943_527-25941dup)
 gnomAD v3 gnomAD v4
6g.136872199T>ACA365764385PEX7c.749T>A (p.Phe250Tyr)
c.*14T>A (n.*14T>A)
c.437T>A
c.635T>A (p.Phe212Tyr)
c.754T>A (n.754T>A)
c.629T>A (p.Phe210Tyr)
c.455T>A (p.Phe152Tyr)
c.527-25943T>A (n.527-25943T>A)
6g.136872199T>CCA365764386PEX7c.749T>C (p.Phe250Ser)
c.*14T>C (n.*14T>C)
c.437T>C
c.635T>C (p.Phe212Ser)
c.754T>C (n.754T>C)
c.629T>C (p.Phe210Ser)
c.455T>C (p.Phe152Ser)
c.527-25943T>C (n.527-25943T>C)
6g.136872199T>GCA365764387PEX7c.749T>G (p.Phe250Cys)
c.*14T>G (n.*14T>G)
c.437T>G
c.635T>G (p.Phe212Cys)
c.754T>G (n.754T>G)
c.629T>G (p.Phe210Cys)
c.455T>G (p.Phe152Cys)
c.527-25943T>G (n.527-25943T>G)
6g.136872200T>ACA365764388PEX7c.750T>A (p.Phe250Leu)
c.*15T>A (n.*15T>A)
c.438T>A
c.636T>A (p.Phe212Leu)
c.755T>A (n.755T>A)
c.630T>A (p.Phe210Leu)
c.456T>A (p.Phe152Leu)
c.527-25942T>A (n.527-25942T>A)
6g.136872200T>CCA452228768PEX7c.750T>C (p.Phe250=)
c.*15T>C (n.*15T>C)
c.438T>C
c.636T>C (p.Phe212=)
c.755T>C (n.755T>C)
c.630T>C (p.Phe210=)
c.456T>C (p.Phe152=)
c.527-25942T>C (n.527-25942T>C)
 gnomAD v4
6g.136872200T>GCA365764389PEX7c.750T>G (p.Phe250Leu)
c.*15T>G (n.*15T>G)
c.438T>G
c.636T>G (p.Phe212Leu)
c.755T>G (n.755T>G)
c.630T>G (p.Phe210Leu)
c.456T>G (p.Phe152Leu)
c.527-25942T>G (n.527-25942T>G)
6g.136872201T>ACA365764392PEX7c.751T>A (p.Ser251Thr)
c.*16T>A (n.*16T>A)
c.439T>A
c.637T>A (p.Ser213Thr)
c.756T>A (n.756T>A)
c.631T>A (p.Ser211Thr)
c.457T>A (p.Ser153Thr)
c.527-25941T>A (n.527-25941T>A)
 gnomAD v4
6g.136872201T>CCA365764390PEX7c.751T>C (p.Ser251Pro)
c.*16T>C (n.*16T>C)
c.439T>C
c.637T>C (p.Ser213Pro)
c.756T>C (n.756T>C)
c.631T>C (p.Ser211Pro)
c.457T>C (p.Ser153Pro)
c.527-25941T>C (n.527-25941T>C)
 gnomAD v4
6g.136872201T>GCA365764391PEX7c.751T>G (p.Ser251Ala)
c.*16T>G (n.*16T>G)
c.439T>G
c.637T>G (p.Ser213Ala)
c.756T>G (n.756T>G)
c.631T>G (p.Ser211Ala)
c.457T>G (p.Ser153Ala)
c.527-25941T>G (n.527-25941T>G)
6g.136872202C>ACA365764393PEX7c.752C>A (p.Ser251Ter)
c.*17C>A (n.*17C>A)
c.440C>A
c.638C>A (p.Ser213Ter)
c.757C>A (n.757C>A)
c.632C>A (p.Ser211Ter)
c.458C>A (p.Ser153Ter)
c.527-25940C>A (n.527-25940C>A)
 dbSNP gnomAD v4
6g.136872202C>GCA365764394PEX7c.752C>G (p.Ser251Ter)
c.*17C>G (n.*17C>G)
c.440C>G
c.638C>G (p.Ser213Ter)
c.757C>G (n.757C>G)
c.632C>G (p.Ser211Ter)
c.458C>G (p.Ser153Ter)
c.527-25940C>G (n.527-25940C>G)
6g.136872202C>TCA365764395PEX7c.752C>T (p.Ser251Leu)
c.*17C>T (n.*17C>T)
c.440C>T
c.638C>T (p.Ser213Leu)
c.757C>T (n.757C>T)
c.632C>T (p.Ser211Leu)
c.458C>T (p.Ser153Leu)
c.527-25940C>T (n.527-25940C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.136872202_136872205delCA570574070PEX7c.752_755del (p.Ser251TyrfsTer16)
c.*17_*20del (n.*17_*20del)
c.440_443del
c.638_641del (p.Ser213TyrfsTer16)
c.757_760del (n.757_760del)
c.632_635del (p.Ser211TyrfsTer16)
c.458_461del (p.Ser153TyrfsTer16)
c.527-25940_527-25937del (n.527-25940_527-25937del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.136872202_136872206delCA570574068PEX7c.752_756del (p.Ser251PhefsTer12)
c.*17_*21del (n.*17_*21del)
c.440_444del
c.638_642del (p.Ser213PhefsTer12)
c.757_761del (n.757_761del)
c.632_636del (p.Ser211PhefsTer12)
c.458_462del (p.Ser153PhefsTer12)
c.527-25940_527-25936del (n.527-25940_527-25936del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.136872204_136872206delCA1094890247PEX7c.754_756del (p.Pro252del)
c.*19_*21del (n.*19_*21del)
c.442_444del
c.640_642del (p.Pro214del)
c.759_761del (n.759_761del)
c.634_636del (p.Pro212del)
c.460_462del (p.Pro154del)
c.527-25938_527-25936del (n.527-25938_527-25936del)
 gnomAD v3 gnomAD v4
6g.136872203A>CCA452228769PEX7c.753A>C (p.Ser251=)
c.*18A>C (n.*18A>C)
c.441A>C
c.639A>C (p.Ser213=)
c.758A>C (n.758A>C)
c.633A>C (p.Ser211=)
c.459A>C (p.Ser153=)
c.527-25939A>C (n.527-25939A>C)
 dbSNP gnomAD v2 gnomAD v4
6g.136872203A>GCA452228771PEX7c.753A>G (p.Ser251=)
c.*18A>G (n.*18A>G)
c.441A>G
c.639A>G (p.Ser213=)
c.758A>G (n.758A>G)
c.633A>G (p.Ser211=)
c.459A>G (p.Ser153=)
c.527-25939A>G (n.527-25939A>G)
 dbSNP gnomAD v4
6g.136872203A>TCA452228770PEX7c.753A>T (p.Ser251=)
c.*18A>T (n.*18A>T)
c.441A>T
c.639A>T (p.Ser213=)
c.758A>T (n.758A>T)
c.633A>T (p.Ser211=)
c.459A>T (p.Ser153=)
c.527-25939A>T (n.527-25939A>T)
 gnomAD v3 gnomAD v4
6g.136872204C>ACA365764396PEX7c.754C>A (p.Pro252Thr)
c.*19C>A (n.*19C>A)
c.442C>A
c.640C>A (p.Pro214Thr)
c.759C>A (n.759C>A)
c.634C>A (p.Pro212Thr)
c.460C>A (p.Pro154Thr)
c.527-25938C>A (n.527-25938C>A)
 gnomAD v4
6g.136872204C>GCA365764397PEX7c.754C>G (p.Pro252Ala)
c.*19C>G (n.*19C>G)
c.442C>G
c.640C>G (p.Pro214Ala)
c.759C>G (n.759C>G)
c.634C>G (p.Pro212Ala)
c.460C>G (p.Pro154Ala)
c.527-25938C>G (n.527-25938C>G)
6g.136872204C>TCA148202569PEX7c.754C>T (p.Pro252Ser)
c.*19C>T (n.*19C>T)
c.442C>T
c.640C>T (p.Pro214Ser)
c.759C>T (n.759C>T)
c.634C>T (p.Pro212Ser)
c.460C>T (p.Pro154Ser)
c.527-25938C>T (n.527-25938C>T)
 dbSNP gnomAD v3 gnomAD v4
6g.136872205C>ACA365764398PEX7c.755C>A (p.Pro252Gln)
c.*20C>A (n.*20C>A)
c.443C>A
c.641C>A (p.Pro214Gln)
c.760C>A (n.760C>A)
c.635C>A (p.Pro212Gln)
c.461C>A (p.Pro154Gln)
c.527-25937C>A (n.527-25937C>A)
 gnomAD v4
6g.136872205C>GCA365764399PEX7c.755C>G (p.Pro252Arg)
c.*20C>G (n.*20C>G)
c.443C>G
c.641C>G (p.Pro214Arg)
c.760C>G (n.760C>G)
c.635C>G (p.Pro212Arg)
c.461C>G (p.Pro154Arg)
c.527-25937C>G (n.527-25937C>G)
6g.136872205C>TCA365764400PEX7c.755C>T (p.Pro252Leu)
c.*20C>T (n.*20C>T)
c.443C>T
c.641C>T (p.Pro214Leu)
c.760C>T (n.760C>T)
c.635C>T (p.Pro212Leu)
c.461C>T (p.Pro154Leu)
c.527-25937C>T (n.527-25937C>T)
 gnomAD v3 gnomAD v4
6g.136872206A>CCA452228772PEX7c.756A>C (p.Pro252=)
c.*21A>C (n.*21A>C)
c.444A>C
c.642A>C (p.Pro214=)
c.761A>C (n.761A>C)
c.636A>C (p.Pro212=)
c.462A>C (p.Pro154=)
c.527-25936A>C (n.527-25936A>C)
6g.136872206A>GCA452228773PEX7c.756A>G (p.Pro252=)
c.*21A>G (n.*21A>G)
c.444A>G
c.642A>G (p.Pro214=)
c.761A>G (n.761A>G)
c.636A>G (p.Pro212=)
c.462A>G (p.Pro154=)
c.527-25936A>G (n.527-25936A>G)
6g.136872206A>TCA452228774PEX7c.756A>T (p.Pro252=)
c.*21A>T (n.*21A>T)
c.444A>T
c.642A>T (p.Pro214=)
c.761A>T (n.761A>T)
c.636A>T (p.Pro212=)
c.462A>T (p.Pro154=)
c.527-25936A>T (n.527-25936A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.136872207T>ACA365764401PEX7c.757T>A (p.Phe253Ile)
c.*22T>A (n.*22T>A)
c.445T>A
c.643T>A (p.Phe215Ile)
c.762T>A (n.762T>A)
c.637T>A (p.Phe213Ile)
c.463T>A (p.Phe155Ile)
c.527-25935T>A (n.527-25935T>A)
6g.136872207T>CCA365764402PEX7c.757T>C (p.Phe253Leu)
c.*22T>C (n.*22T>C)
c.445T>C
c.643T>C (p.Phe215Leu)
c.762T>C (n.762T>C)
c.637T>C (p.Phe213Leu)
c.463T>C (p.Phe155Leu)
c.527-25935T>C (n.527-25935T>C)
6g.136872207T>GCA365764403PEX7c.757T>G (p.Phe253Val)
c.*22T>G (n.*22T>G)
c.445T>G
c.643T>G (p.Phe215Val)
c.762T>G (n.762T>G)
c.637T>G (p.Phe213Val)
c.463T>G (p.Phe155Val)
c.527-25935T>G (n.527-25935T>G)
6g.136872208T>ACA365764406PEX7c.758T>A (p.Phe253Tyr)
c.*23T>A (n.*23T>A)
c.446T>A
c.644T>A (p.Phe215Tyr)
c.763T>A (n.763T>A)
c.638T>A (p.Phe213Tyr)
c.464T>A (p.Phe155Tyr)
c.527-25934T>A (n.527-25934T>A)
6g.136872208T>CCA365764405PEX7c.758T>C (p.Phe253Ser)
c.*23T>C (n.*23T>C)
c.446T>C
c.644T>C (p.Phe215Ser)
c.763T>C (n.763T>C)
c.638T>C (p.Phe213Ser)
c.464T>C (p.Phe155Ser)
c.527-25934T>C (n.527-25934T>C)
 gnomAD v4
6g.136872208T>GCA365764404PEX7c.758T>G (p.Phe253Cys)
c.*23T>G (n.*23T>G)
c.446T>G
c.644T>G (p.Phe215Cys)
c.763T>G (n.763T>G)
c.638T>G (p.Phe213Cys)
c.464T>G (p.Phe155Cys)
c.527-25934T>G (n.527-25934T>G)
6g.136872209T>ACA365764408PEX7c.759T>A (p.Phe253Leu)
c.*24T>A (n.*24T>A)
c.447T>A
c.645T>A (p.Phe215Leu)
c.764T>A (n.764T>A)
c.639T>A (p.Phe213Leu)
c.465T>A (p.Phe155Leu)
c.527-25933T>A (n.527-25933T>A)
6g.136872209T>CCA452228775PEX7c.759T>C (p.Phe253=)
c.*24T>C (n.*24T>C)
c.447T>C
c.645T>C (p.Phe215=)
c.764T>C (n.764T>C)
c.639T>C (p.Phe213=)
c.465T>C (p.Phe155=)
c.527-25933T>C (n.527-25933T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.136872209T>GCA365764407PEX7c.759T>G (p.Phe253Leu)
c.*24T>G (n.*24T>G)
c.447T>G
c.645T>G (p.Phe215Leu)
c.764T>G (n.764T>G)
c.639T>G (p.Phe213Leu)
c.465T>G (p.Phe155Leu)
c.527-25933T>G (n.527-25933T>G)
6g.136872210C>ACA365764411PEX7c.760C>A (p.His254Asn)
c.*25C>A (n.*25C>A)
c.448C>A
c.646C>A (p.His216Asn)
c.765C>A (n.765C>A)
c.640C>A (p.His214Asn)
c.466C>A (p.His156Asn)
c.527-25932C>A (n.527-25932C>A)
 gnomAD v4
6g.136872210C>GCA365764409PEX7c.760C>G (p.His254Asp)
c.*25C>G (n.*25C>G)
c.448C>G
c.646C>G (p.His216Asp)
c.765C>G (n.765C>G)
c.640C>G (p.His214Asp)
c.466C>G (p.His156Asp)
c.527-25932C>G (n.527-25932C>G)
6g.136872210C>TCA365764410PEX7c.760C>T (p.His254Tyr)
c.*25C>T (n.*25C>T)
c.448C>T
c.646C>T (p.His216Tyr)
c.765C>T (n.765C>T)
c.640C>T (p.His214Tyr)
c.466C>T (p.His156Tyr)
c.527-25932C>T (n.527-25932C>T)
 ClinVar dbSNP gnomAD v4 COSMIC
6g.136872210_136872214delCA2680490725PEX7c.760_764del (p.His254PhefsTer9)
c.*25_*29del (n.*25_*29del)
c.448_452del
c.646_650del (p.His216PhefsTer9)
c.765_769del (n.765_769del)
c.640_644del (p.His214PhefsTer9)
c.466_470del (p.His156PhefsTer9)
c.527-25932_527-25928del (n.527-25932_527-25928del)
 gnomAD v4
6g.136872211A>CCA365764412PEX7c.761A>C (p.His254Pro)
c.*26A>C (n.*26A>C)
c.449A>C
c.647A>C (p.His216Pro)
c.766A>C (n.766A>C)
c.641A>C (p.His214Pro)
c.467A>C (p.His156Pro)
c.527-25931A>C (n.527-25931A>C)
 gnomAD v4
6g.136872211A>GCA365764413PEX7c.761A>G (p.His254Arg)
c.*26A>G (n.*26A>G)
c.449A>G
c.647A>G (p.His216Arg)
c.766A>G (n.766A>G)
c.641A>G (p.His214Arg)
c.467A>G (p.His156Arg)
c.527-25931A>G (n.527-25931A>G)
6g.136872211A>TCA365764414PEX7c.761A>T (p.His254Leu)
c.*26A>T (n.*26A>T)
c.449A>T
c.647A>T (p.His216Leu)
c.766A>T (n.766A>T)
c.641A>T (p.His214Leu)
c.467A>T (p.His156Leu)
c.527-25931A>T (n.527-25931A>T)
 gnomAD v4
6g.136872212T>ACA365764415PEX7c.762T>A (p.His254Gln)
c.*27T>A (n.*27T>A)
c.450T>A
c.648T>A (p.His216Gln)
c.767T>A (n.767T>A)
c.642T>A (p.His214Gln)
c.468T>A (p.His156Gln)
c.527-25930T>A (n.527-25930T>A)
6g.136872212T>CCA452228776PEX7c.762T>C (p.His254=)
c.*27T>C (n.*27T>C)
c.450T>C
c.648T>C (p.His216=)
c.767T>C (n.767T>C)
c.642T>C (p.His214=)
c.468T>C (p.His156=)
c.527-25930T>C (n.527-25930T>C)
6g.136872212T>GCA365764416PEX7c.762T>G (p.His254Gln)
c.*27T>G (n.*27T>G)
c.450T>G
c.648T>G (p.His216Gln)
c.767T>G (n.767T>G)
c.642T>G (p.His214Gln)
c.468T>G (p.His156Gln)
c.527-25930T>G (n.527-25930T>G)
6g.136872212_136872213insAAACATTATAATAAATTTAACA1094890252PEX7c.762_763insAAACATTATAATAAATTTAA (p.Ala255LysfsTer20)
c.*27_*28insAAACATTATAATAAATTTAA (n.*27_*28insAAACATTATAATAAATTTAA)
c.450_451insAAACATTATAATAAATTTAA
c.648_649insAAACATTATAATAAATTTAA (p.Ala217LysfsTer20)
c.767_768insAAACATTATAATAAATTTAA (n.767_768insAAACATTATAATAAATTTAA)
c.642_643insAAACATTATAATAAATTTAA (p.Ala215LysfsTer20)
c.468_469insAAACATTATAATAAATTTAA (p.Ala157LysfsTer20)
c.527-25930_527-25929insAAACATTATAATAAATTTAA (n.527-25930_527-25929insAAACATTATAATAAATTTAA)
 gnomAD v3 gnomAD v4
6g.136872213G>ACA365764417PEX7c.763G>A (p.Ala255Thr)
c.*28G>A (n.*28G>A)
c.451G>A
c.649G>A (p.Ala217Thr)
c.768G>A (n.768G>A)
c.643G>A (p.Ala215Thr)
c.469G>A (p.Ala157Thr)
c.527-25929G>A (n.527-25929G>A)
 gnomAD v4
6g.136872213G>CCA365764418PEX7c.763G>C (p.Ala255Pro)
c.*28G>C (n.*28G>C)
c.451G>C
c.649G>C (p.Ala217Pro)
c.768G>C (n.768G>C)
c.643G>C (p.Ala215Pro)
c.469G>C (p.Ala157Pro)
c.527-25929G>C (n.527-25929G>C)
6g.136872213G>TCA365764419PEX7c.763G>T (p.Ala255Ser)
c.*28G>T (n.*28G>T)
c.451G>T
c.649G>T (p.Ala217Ser)
c.768G>T (n.768G>T)
c.643G>T (p.Ala215Ser)
c.469G>T (p.Ala157Ser)
c.527-25929G>T (n.527-25929G>T)
 gnomAD v3 gnomAD v4
6g.136872214C>ACA365764420PEX7c.764C>A (p.Ala255Asp)
c.*29C>A (n.*29C>A)
c.452C>A
c.650C>A (p.Ala217Asp)
c.769C>A (n.769C>A)
c.644C>A (p.Ala215Asp)
c.470C>A (p.Ala157Asp)
c.527-25928C>A (n.527-25928C>A)
 gnomAD v4
6g.136872214C>GCA365764421PEX7c.764C>G (p.Ala255Gly)
c.*29C>G (n.*29C>G)
c.452C>G
c.650C>G (p.Ala217Gly)
c.769C>G (n.769C>G)
c.644C>G (p.Ala215Gly)
c.470C>G (p.Ala157Gly)
c.527-25928C>G (n.527-25928C>G)
6g.136872214C>TCA148202575PEX7c.764C>T (p.Ala255Val)
c.*29C>T (n.*29C>T)
c.452C>T
c.650C>T (p.Ala217Val)
c.769C>T (n.769C>T)
c.644C>T (p.Ala215Val)
c.470C>T (p.Ala157Val)
c.527-25928C>T (n.527-25928C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.136872215T>ACA452228777PEX7c.765T>A (p.Ala255=)
c.*30T>A (n.*30T>A)
c.453T>A
c.651T>A (p.Ala217=)
c.770T>A (n.770T>A)
c.645T>A (p.Ala215=)
c.471T>A (p.Ala157=)
c.527-25927T>A (n.527-25927T>A)
 gnomAD v4
6g.136872215T>CCA452228778PEX7c.765T>C (p.Ala255=)
c.*30T>C (n.*30T>C)
c.453T>C
c.651T>C (p.Ala217=)
c.770T>C (n.770T>C)
c.645T>C (p.Ala215=)
c.471T>C (p.Ala157=)
c.527-25927T>C (n.527-25927T>C)
 gnomAD v4
6g.136872215T>GCA452228779PEX7c.765T>G (p.Ala255=)
c.*30T>G (n.*30T>G)
c.453T>G
c.651T>G (p.Ala217=)
c.770T>G (n.770T>G)
c.645T>G (p.Ala215=)
c.471T>G (p.Ala157=)
c.527-25927T>G (n.527-25927T>G)
 ClinVar gnomAD v4
6g.136872215_136872216insGAGCA2530711930PEX7c.765_766insGAG (p.Ala255_Ser256insGlu)
c.*30_*31insGAG (n.*30_*31insGAG)
c.453_454insGAG
c.651_652insGAG (p.Ala217_Ser218insGlu)
c.770_771insGAG (n.770_771insGAG)
c.645_646insGAG (p.Ala215_Ser216insGlu)
c.471_472insGAG (p.Ala157_Ser158insGlu)
c.527-25927_527-25926insGAG (n.527-25927_527-25926insGAG)
6g.136872216T>ACA365764424PEX7c.766T>A (p.Ser256Thr)
c.*31T>A (n.*31T>A)
c.454T>A
c.652T>A (p.Ser218Thr)
c.771T>A (n.771T>A)
c.646T>A (p.Ser216Thr)
c.472T>A (p.Ser158Thr)
c.527-25926T>A (n.527-25926T>A)
6g.136872216T>CCA365764422PEX7c.766T>C (p.Ser256Pro)
c.*31T>C (n.*31T>C)
c.454T>C
c.652T>C (p.Ser218Pro)
c.771T>C (n.771T>C)
c.646T>C (p.Ser216Pro)
c.472T>C (p.Ser158Pro)
c.527-25926T>C (n.527-25926T>C)
6g.136872216T>GCA365764423PEX7c.766T>G (p.Ser256Ala)
c.*31T>G (n.*31T>G)
c.454T>G
c.652T>G (p.Ser218Ala)
c.771T>G (n.771T>G)
c.646T>G (p.Ser216Ala)
c.472T>G (p.Ser158Ala)
c.527-25926T>G (n.527-25926T>G)
6g.136872217C>ACA365764425PEX7c.767C>A (p.Ser256Tyr)
c.*32C>A (n.*32C>A)
c.455C>A
c.653C>A (p.Ser218Tyr)
c.772C>A (n.772C>A)
c.647C>A (p.Ser216Tyr)
c.473C>A (p.Ser158Tyr)
c.527-25925C>A (n.527-25925C>A)
6g.136872217C>GCA365764426PEX7c.767C>G (p.Ser256Cys)
c.*32C>G (n.*32C>G)
c.455C>G
c.653C>G (p.Ser218Cys)
c.772C>G (n.772C>G)
c.647C>G (p.Ser216Cys)
c.473C>G (p.Ser158Cys)
c.527-25925C>G (n.527-25925C>G)
 dbSNP gnomAD v3 gnomAD v4
6g.136872217C>TCA365764427PEX7c.767C>T (p.Ser256Phe)
c.*32C>T (n.*32C>T)
c.455C>T
c.653C>T (p.Ser218Phe)
c.772C>T (n.772C>T)
c.647C>T (p.Ser216Phe)
c.473C>T (p.Ser158Phe)
c.527-25925C>T (n.527-25925C>T)
 gnomAD v3 gnomAD v4
6g.136872218T>ACA452228780PEX7c.768T>A (p.Ser256=)
c.*33T>A (n.*33T>A)
c.456T>A
c.654T>A (p.Ser218=)
c.773T>A (n.773T>A)
c.648T>A (p.Ser216=)
c.474T>A (p.Ser158=)
c.527-25924T>A (n.527-25924T>A)
6g.136872218T>CCA452228781PEX7c.768T>C (p.Ser256=)
c.*33T>C (n.*33T>C)
c.456T>C
c.654T>C (p.Ser218=)
c.773T>C (n.773T>C)
c.648T>C (p.Ser216=)
c.474T>C (p.Ser158=)
c.527-25924T>C (n.527-25924T>C)
 gnomAD v4
6g.136872218T>GCA452228782PEX7c.768T>G (p.Ser256=)
c.*33T>G (n.*33T>G)
c.456T>G
c.654T>G (p.Ser218=)
c.773T>G (n.773T>G)
c.648T>G (p.Ser216=)
c.474T>G (p.Ser158=)
c.527-25924T>G (n.527-25924T>G)
6g.136872219G>ACA4017754PEX7c.769G>A (p.Val257Met)
c.*34G>A (n.*34G>A)
c.457G>A
c.655G>A (p.Val219Met)
c.774G>A (n.774G>A)
c.649G>A (p.Val217Met)
c.475G>A (p.Val159Met)
c.527-25923G>A (n.527-25923G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136872219G>CCA365764428PEX7c.769G>C (p.Val257Leu)
c.*34G>C (n.*34G>C)
c.457G>C
c.655G>C (p.Val219Leu)
c.774G>C (n.774G>C)
c.649G>C (p.Val217Leu)
c.475G>C (p.Val159Leu)
c.527-25923G>C (n.527-25923G>C)
6g.136872219G>TCA365764429PEX7c.769G>T (p.Val257Leu)
c.*34G>T (n.*34G>T)
c.457G>T
c.655G>T (p.Val219Leu)
c.774G>T (n.774G>T)
c.649G>T (p.Val217Leu)
c.475G>T (p.Val159Leu)
c.527-25923G>T (n.527-25923G>T)
 gnomAD v3 gnomAD v4
6g.136872220T>ACA365764430PEX7c.770T>A (p.Val257Glu)
c.*35T>A (n.*35T>A)
c.458T>A
c.656T>A (p.Val219Glu)
c.775T>A (n.775T>A)
c.650T>A (p.Val217Glu)
c.476T>A (p.Val159Glu)
c.527-25922T>A (n.527-25922T>A)
6g.136872220T>CCA365764431PEX7c.770T>C (p.Val257Ala)
c.*35T>C (n.*35T>C)
c.458T>C
c.656T>C (p.Val219Ala)
c.775T>C (n.775T>C)
c.650T>C (p.Val217Ala)
c.476T>C (p.Val159Ala)
c.527-25922T>C (n.527-25922T>C)
6g.136872220T>GCA365764432PEX7c.770T>G (p.Val257Gly)
c.*35T>G (n.*35T>G)
c.458T>G
c.656T>G (p.Val219Gly)
c.775T>G (n.775T>G)
c.650T>G (p.Val217Gly)
c.476T>G (p.Val159Gly)
c.527-25922T>G (n.527-25922T>G)
 gnomAD v4
6g.136872224_136872234delCA16041020PEX7c.774_784del (p.Ala259ValfsTer2)
c.*39_*49del (n.*39_*49del)
c.462_472del
c.660_670del (p.Ala221ValfsTer2)
c.779_789del (n.779_789del)
c.654_664del (p.Ala219ValfsTer2)
c.480_490del (p.Ala161ValfsTer2)
c.527-25918_527-25908del (n.527-25918_527-25908del)
 ClinVar dbSNP
6g.136872221G>ACA452228783PEX7c.771G>A (p.Val257=)
c.*36G>A (n.*36G>A)
c.459G>A
c.657G>A (p.Val219=)
c.776G>A (n.776G>A)
c.651G>A (p.Val217=)
c.477G>A (p.Val159=)
c.527-25921G>A (n.527-25921G>A)
6g.136872221G>CCA452228784PEX7c.771G>C (p.Val257=)
c.*36G>C (n.*36G>C)
c.459G>C
c.657G>C (p.Val219=)
c.776G>C (n.776G>C)
c.651G>C (p.Val217=)
c.477G>C (p.Val159=)
c.527-25921G>C (n.527-25921G>C)
6g.136872221G>TCA452228785PEX7c.771G>T (p.Val257=)
c.*36G>T (n.*36G>T)
c.459G>T
c.657G>T (p.Val219=)
c.776G>T (n.776G>T)
c.651G>T (p.Val217=)
c.477G>T (p.Val159=)
c.527-25921G>T (n.527-25921G>T)
 gnomAD v3 gnomAD v4
6g.136872222C>ACA365764433PEX7c.772C>A (p.Leu258Met)
c.*37C>A (n.*37C>A)
c.460C>A
c.658C>A (p.Leu220Met)
c.777C>A (n.777C>A)
c.652C>A (p.Leu218Met)
c.478C>A (p.Leu160Met)
c.527-25920C>A (n.527-25920C>A)
6g.136872222C>GCA365764434PEX7c.772C>G (p.Leu258Val)
c.*37C>G (n.*37C>G)
c.460C>G
c.658C>G (p.Leu220Val)
c.777C>G (n.777C>G)
c.652C>G (p.Leu218Val)
c.478C>G (p.Leu160Val)
c.527-25920C>G (n.527-25920C>G)
 dbSNP gnomAD v3 gnomAD v4
6g.136872222C>TCA452228786PEX7c.772C>T (p.Leu258=)
c.*37C>T (n.*37C>T)
c.460C>T
c.658C>T (p.Leu220=)
c.777C>T (n.777C>T)
c.652C>T (p.Leu218=)
c.478C>T (p.Leu160=)
c.527-25920C>T (n.527-25920C>T)
 ClinVar gnomAD v3 gnomAD v4
6g.136872223T>ACA365764435PEX7c.773T>A (p.Leu258Gln)
c.*38T>A (n.*38T>A)
c.461T>A
c.659T>A (p.Leu220Gln)
c.778T>A (n.778T>A)
c.653T>A (p.Leu218Gln)
c.479T>A (p.Leu160Gln)
c.527-25919T>A (n.527-25919T>A)
6g.136872223T>CCA4017755PEX7c.773T>C (p.Leu258Pro)
c.*38T>C (n.*38T>C)
c.461T>C
c.659T>C (p.Leu220Pro)
c.778T>C (n.778T>C)
c.653T>C (p.Leu218Pro)
c.479T>C (p.Leu160Pro)
c.527-25919T>C (n.527-25919T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.136872223T>GCA365764436PEX7c.773T>G (p.Leu258Arg)
c.*38T>G (n.*38T>G)
c.461T>G
c.659T>G (p.Leu220Arg)
c.778T>G (n.778T>G)
c.653T>G (p.Leu218Arg)
c.479T>G (p.Leu160Arg)
c.527-25919T>G (n.527-25919T>G)
6g.136872224G>ACA452228789PEX7c.774G>A (p.Leu258=)
c.*39G>A (n.*39G>A)
c.462G>A
c.660G>A (p.Leu220=)
c.779G>A (n.779G>A)
c.654G>A (p.Leu218=)
c.480G>A (p.Leu160=)
c.527-25918G>A (n.527-25918G>A)
6g.136872224G>CCA452228788PEX7c.774G>C (p.Leu258=)
c.*39G>C (n.*39G>C)
c.462G>C
c.660G>C (p.Leu220=)
c.779G>C (n.779G>C)
c.654G>C (p.Leu218=)
c.480G>C (p.Leu160=)
c.527-25918G>C (n.527-25918G>C)
 gnomAD v4
6g.136872224G>TCA452228787PEX7c.774G>T (p.Leu258=)
c.*39G>T (n.*39G>T)
c.462G>T
c.660G>T (p.Leu220=)
c.779G>T (n.779G>T)
c.654G>T (p.Leu218=)
c.480G>T (p.Leu160=)
c.527-25918G>T (n.527-25918G>T)
 gnomAD v3 gnomAD v4
6g.136872225G>ACA365764437PEX7c.775G>A (p.Ala259Thr)
c.*40G>A (n.*40G>A)
c.463G>A
c.661G>A (p.Ala221Thr)
c.780G>A (n.780G>A)
c.655G>A (p.Ala219Thr)
c.481G>A (p.Ala161Thr)
c.527-25917G>A (n.527-25917G>A)
 gnomAD v4 COSMIC
6g.136872225G>CCA365764438PEX7c.775G>C (p.Ala259Pro)
c.*40G>C (n.*40G>C)
c.463G>C
c.661G>C (p.Ala221Pro)
c.780G>C (n.780G>C)
c.655G>C (p.Ala219Pro)
c.481G>C (p.Ala161Pro)
c.527-25917G>C (n.527-25917G>C)
6g.136872225G>TCA365764439PEX7c.775G>T (p.Ala259Ser)
c.*40G>T (n.*40G>T)
c.463G>T
c.661G>T (p.Ala221Ser)
c.780G>T (n.780G>T)
c.655G>T (p.Ala219Ser)
c.481G>T (p.Ala161Ser)
c.527-25917G>T (n.527-25917G>T)
 gnomAD v4
6g.136872226C>ACA365764440PEX7c.776C>A (p.Ala259Asp)
c.*41C>A (n.*41C>A)
c.464C>A
c.662C>A (p.Ala221Asp)
c.781C>A (n.781C>A)
c.656C>A (p.Ala219Asp)
c.482C>A (p.Ala161Asp)
c.527-25916C>A (n.527-25916C>A)
6g.136872226C>GCA365764441PEX7c.776C>G (p.Ala259Gly)
c.*41C>G (n.*41C>G)
c.464C>G
c.662C>G (p.Ala221Gly)
c.781C>G (n.781C>G)
c.656C>G (p.Ala219Gly)
c.482C>G (p.Ala161Gly)
c.527-25916C>G (n.527-25916C>G)
6g.136872226C>TCA4017756PEX7c.776C>T (p.Ala259Val)
c.*41C>T (n.*41C>T)
c.464C>T
c.662C>T (p.Ala221Val)
c.781C>T (n.781C>T)
c.656C>T (p.Ala219Val)
c.482C>T (p.Ala161Val)
c.527-25916C>T (n.527-25916C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136872227C>ACA452228790PEX7c.777C>A (p.Ala259=)
c.*42C>A (n.*42C>A)
c.465C>A
c.663C>A (p.Ala221=)
c.782C>A (n.782C>A)
c.657C>A (p.Ala219=)
c.483C>A (p.Ala161=)
c.527-25915C>A (n.527-25915C>A)
6g.136872227C>GCA452228791PEX7c.777C>G (p.Ala259=)
c.*42C>G (n.*42C>G)
c.465C>G
c.663C>G (p.Ala221=)
c.782C>G (n.782C>G)
c.657C>G (p.Ala219=)
c.483C>G (p.Ala161=)
c.527-25915C>G (n.527-25915C>G)
 ClinVar dbSNP
6g.136872227C>TCA452228792PEX7c.777C>T (p.Ala259=)
c.*42C>T (n.*42C>T)
c.465C>T
c.663C>T (p.Ala221=)
c.782C>T (n.782C>T)
c.657C>T (p.Ala219=)
c.483C>T (p.Ala161=)
c.527-25915C>T (n.527-25915C>T)
 gnomAD v4 COSMIC
6g.136872228T>ACA365764442PEX7c.778T>A (p.Ser260Thr)
c.*43T>A (n.*43T>A)
c.466T>A
c.664T>A (p.Ser222Thr)
c.783T>A (n.783T>A)
c.658T>A (p.Ser220Thr)
c.484T>A (p.Ser162Thr)
c.527-25914T>A (n.527-25914T>A)
 ClinVar
6g.136872228T>CCA365764443PEX7c.778T>C (p.Ser260Pro)
c.*43T>C (n.*43T>C)
c.466T>C
c.664T>C (p.Ser222Pro)
c.783T>C (n.783T>C)
c.658T>C (p.Ser220Pro)
c.484T>C (p.Ser162Pro)
c.527-25914T>C (n.527-25914T>C)
 gnomAD v4
6g.136872228T>GCA365764444PEX7c.778T>G (p.Ser260Ala)
c.*43T>G (n.*43T>G)
c.466T>G
c.664T>G (p.Ser222Ala)
c.783T>G (n.783T>G)
c.658T>G (p.Ser220Ala)
c.484T>G (p.Ser162Ala)
c.527-25914T>G (n.527-25914T>G)
6g.136872229C>ACA365764445PEX7c.779C>A (p.Ser260Tyr)
c.*44C>A (n.*44C>A)
c.467C>A
c.665C>A (p.Ser222Tyr)
c.784C>A (n.784C>A)
c.659C>A (p.Ser220Tyr)
c.485C>A (p.Ser162Tyr)
c.527-25913C>A (n.527-25913C>A)
6g.136872229C>GCA365764446PEX7c.779C>G (p.Ser260Cys)
c.*44C>G (n.*44C>G)
c.467C>G
c.665C>G (p.Ser222Cys)
c.784C>G (n.784C>G)
c.659C>G (p.Ser220Cys)
c.485C>G (p.Ser162Cys)
c.527-25913C>G (n.527-25913C>G)
6g.136872229C>TCA365764447PEX7c.779C>T (p.Ser260Phe)
c.*44C>T (n.*44C>T)
c.467C>T
c.665C>T (p.Ser222Phe)
c.784C>T (n.784C>T)
c.659C>T (p.Ser220Phe)
c.485C>T (p.Ser162Phe)
c.527-25913C>T (n.527-25913C>T)
 dbSNP gnomAD v3 gnomAD v4
6g.136872230T>ACA452228793PEX7c.780T>A (p.Ser260=)
c.*45T>A (n.*45T>A)
c.468T>A
c.666T>A (p.Ser222=)
c.785T>A (n.785T>A)
c.660T>A (p.Ser220=)
c.486T>A (p.Ser162=)
c.527-25912T>A (n.527-25912T>A)
6g.136872230T>CCA452228794PEX7c.780T>C (p.Ser260=)
c.*45T>C (n.*45T>C)
c.468T>C
c.666T>C (p.Ser222=)
c.785T>C (n.785T>C)
c.660T>C (p.Ser220=)
c.486T>C (p.Ser162=)
c.527-25912T>C (n.527-25912T>C)
 ClinVar dbSNP gnomAD v4
6g.136872230T>GCA452228795PEX7c.780T>G (p.Ser260=)
c.*45T>G (n.*45T>G)
c.468T>G
c.666T>G (p.Ser222=)
c.785T>G (n.785T>G)
c.660T>G (p.Ser220=)
c.486T>G (p.Ser162=)
c.527-25912T>G (n.527-25912T>G)
6g.136872231T>ACA365764450PEX7c.781T>A (p.Cys261Ser)
c.*46T>A (n.*46T>A)
c.469T>A
c.667T>A (p.Cys223Ser)
c.786T>A (n.786T>A)
c.661T>A (p.Cys221Ser)
c.487T>A (p.Cys163Ser)
c.527-25911T>A (n.527-25911T>A)
6g.136872231T>CCA365764448PEX7c.781T>C (p.Cys261Arg)
c.*46T>C (n.*46T>C)
c.469T>C
c.667T>C (p.Cys223Arg)
c.786T>C (n.786T>C)
c.661T>C (p.Cys221Arg)
c.487T>C (p.Cys163Arg)
c.527-25911T>C (n.527-25911T>C)
6g.136872231T>GCA365764449PEX7c.781T>G (p.Cys261Gly)
c.*46T>G (n.*46T>G)
c.469T>G
c.667T>G (p.Cys223Gly)
c.786T>G (n.786T>G)
c.661T>G (p.Cys221Gly)
c.487T>G (p.Cys163Gly)
c.527-25911T>G (n.527-25911T>G)
6g.136872232G>ACA4017757PEX7c.782G>A (p.Cys261Tyr)
c.*47G>A (n.*47G>A)
c.470G>A
c.668G>A (p.Cys223Tyr)
c.787G>A (n.787G>A)
c.662G>A (p.Cys221Tyr)
c.488G>A (p.Cys163Tyr)
c.527-25910G>A (n.527-25910G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.136872232G>CCA365764451PEX7c.782G>C (p.Cys261Ser)
c.*47G>C (n.*47G>C)
c.470G>C
c.668G>C (p.Cys223Ser)
c.787G>C (n.787G>C)
c.662G>C (p.Cys221Ser)
c.488G>C (p.Cys163Ser)
c.527-25910G>C (n.527-25910G>C)
6g.136872232G>TCA365764452PEX7c.782G>T (p.Cys261Phe)
c.*47G>T (n.*47G>T)
c.470G>T
c.668G>T (p.Cys223Phe)
c.787G>T (n.787G>T)
c.662G>T (p.Cys221Phe)
c.488G>T (p.Cys163Phe)
c.527-25910G>T (n.527-25910G>T)
 gnomAD v4
6g.136872233C>ACA365764453PEX7c.783C>A (p.Cys261Ter)
c.*48C>A (n.*48C>A)
c.471C>A
c.669C>A (p.Cys223Ter)
c.788C>A (n.788C>A)
c.663C>A (p.Cys221Ter)
c.489C>A (p.Cys163Ter)
c.527-25909C>A (n.527-25909C>A)
6g.136872233C>GCA365764454PEX7c.783C>G (p.Cys261Trp)
c.*48C>G (n.*48C>G)
c.471C>G
c.669C>G (p.Cys223Trp)
c.788C>G (n.788C>G)
c.663C>G (p.Cys221Trp)
c.489C>G (p.Cys163Trp)
c.527-25909C>G (n.527-25909C>G)
6g.136872233C>TCA452228796PEX7c.783C>T (p.Cys261=)
c.*48C>T (n.*48C>T)
c.471C>T
c.669C>T (p.Cys223=)
c.788C>T (n.788C>T)
c.663C>T (p.Cys221=)
c.489C>T (p.Cys163=)
c.527-25909C>T (n.527-25909C>T)
 ClinVar dbSNP gnomAD v4
6g.136872234T>ACA365764455PEX7c.784T>A (p.Ser262Thr)
c.*49T>A (n.*49T>A)
c.472T>A
c.670T>A (p.Ser224Thr)
c.789T>A (n.789T>A)
c.664T>A (p.Ser222Thr)
c.490T>A (p.Ser164Thr)
c.527-25908T>A (n.527-25908T>A)
6g.136872234T>CCA365764456PEX7c.784T>C (p.Ser262Pro)
c.*49T>C (n.*49T>C)
c.472T>C
c.670T>C (p.Ser224Pro)
c.789T>C (n.789T>C)
c.664T>C (p.Ser222Pro)
c.490T>C (p.Ser164Pro)
c.527-25908T>C (n.527-25908T>C)
6g.136872234T>GCA365764457PEX7c.784T>G (p.Ser262Ala)
c.*49T>G (n.*49T>G)
c.472T>G
c.670T>G (p.Ser224Ala)
c.789T>G (n.789T>G)
c.664T>G (p.Ser222Ala)
c.490T>G (p.Ser164Ala)
c.527-25908T>G (n.527-25908T>G)
6g.136872235C>ACA365764458PEX7c.785C>A (p.Ser262Ter)
c.*50C>A (n.*50C>A)
c.473C>A
c.671C>A (p.Ser224Ter)
c.790C>A (n.790C>A)
c.665C>A (p.Ser222Ter)
c.491C>A (p.Ser164Ter)
c.527-25907C>A (n.527-25907C>A)
6g.136872235C>GCA365764459PEX7c.785C>G (p.Ser262Trp)
c.*50C>G (n.*50C>G)
c.473C>G
c.671C>G (p.Ser224Trp)
c.790C>G (n.790C>G)
c.665C>G (p.Ser222Trp)
c.491C>G (p.Ser164Trp)
c.527-25907C>G (n.527-25907C>G)
6g.136872235C>TCA4017758PEX7c.785C>T (p.Ser262Leu)
c.*50C>T (n.*50C>T)
c.473C>T
c.671C>T (p.Ser224Leu)
c.790C>T (n.790C>T)
c.665C>T (p.Ser222Leu)
c.491C>T (p.Ser164Leu)
c.527-25907C>T (n.527-25907C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136872236G>ACA4017759PEX7c.786G>A (p.Ser262=)
c.*51G>A (n.*51G>A)
c.474G>A
c.672G>A (p.Ser224=)
c.791G>A (n.791G>A)
c.666G>A (p.Ser222=)
c.492G>A (p.Ser164=)
c.527-25906G>A (n.527-25906G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136872236G>CCA452228797PEX7c.786G>C (p.Ser262=)
c.*51G>C (n.*51G>C)
c.474G>C
c.672G>C (p.Ser224=)
c.791G>C (n.791G>C)
c.666G>C (p.Ser222=)
c.492G>C (p.Ser164=)
c.527-25906G>C (n.527-25906G>C)
6g.136872236G>TCA452228798PEX7c.786G>T (p.Ser262=)
c.*51G>T (n.*51G>T)
c.474G>T
c.672G>T (p.Ser224=)
c.791G>T (n.791G>T)
c.666G>T (p.Ser222=)
c.492G>T (p.Ser164=)
c.527-25906G>T (n.527-25906G>T)
 dbSNP

Number of alleles fetched