Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.34268931_34268932dupCA635720145AHCY,ASIPc.223-60_223-59dup (n.223-60_223-59dup)
c.235-60_235-59dup (n.235-60_235-59dup)
c.*7+12097_*7+12098dup (n.*7+12097_*7+12098dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.34268931A>GCA2652532283AHCY,ASIPc.223-60A>G (n.223-60A>G)
c.235-60A>G (n.235-60A>G)
c.*7+12096T>C (n.*7+12096T>C)
 gnomAD v4
20g.34268931A>TCA2652532284AHCY,ASIPc.223-60A>T (n.223-60A>T)
c.235-60A>T (n.235-60A>T)
c.*7+12096T>A (n.*7+12096T>A)
 gnomAD v4
20g.34268932G>ACA2361127644AHCY,ASIPc.223-59G>A (n.223-59G>A)
c.235-59G>A (n.235-59G>A)
c.*7+12095C>T (n.*7+12095C>T)
 dbSNP gnomAD v4
20g.34268932G=CA2361127643AHCY,ASIPc.223-59G= (n.223-59G=)
c.235-59G= (n.235-59G=)
c.*7+12095C= (n.*7+12095C=)
20g.34268933G>ACA313334430AHCY,ASIPc.223-58G>A (n.223-58G>A)
c.235-58G>A (n.235-58G>A)
c.*7+12094C>T (n.*7+12094C>T)
 dbSNP gnomAD v3 gnomAD v4
20g.34268933G>CCA2652532285AHCY,ASIPc.223-58G>C (n.223-58G>C)
c.235-58G>C (n.235-58G>C)
c.*7+12094C>G (n.*7+12094C>G)
 gnomAD v4
20g.34268933G=CA2361127645AHCY,ASIPc.223-58G= (n.223-58G=)
c.235-58G= (n.235-58G=)
c.*7+12094C= (n.*7+12094C=)
20g.34268934T>ACA2652532286AHCY,ASIPc.223-57T>A (n.223-57T>A)
c.235-57T>A (n.235-57T>A)
c.*7+12093A>T (n.*7+12093A>T)
 gnomAD v4
20g.34268934_34268935insCCTCCA2652532287AHCY,ASIPc.223-57_223-56insCCTC (n.223-57_223-56insCCTC)
c.235-57_235-56insCCTC (n.235-57_235-56insCCTC)
c.*7+12092_*7+12093insGAGG (n.*7+12092_*7+12093insGAGG)
 gnomAD v4
20g.34268935G=CA2361127646AHCY,ASIPc.223-56G= (n.223-56G=)
c.235-56G= (n.235-56G=)
c.*7+12092C= (n.*7+12092C=)
20g.34268935G>TCA313334436AHCY,ASIPc.223-56G>T (n.223-56G>T)
c.235-56G>T (n.235-56G>T)
c.*7+12092C>A (n.*7+12092C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.34268936A>GCA2652532288AHCY,ASIPc.223-55A>G (n.223-55A>G)
c.235-55A>G (n.235-55A>G)
c.*7+12091T>C (n.*7+12091T>C)
 gnomAD v4
20g.34268937G>ACA2652532289AHCY,ASIPc.223-54G>A (n.223-54G>A)
c.235-54G>A (n.235-54G>A)
c.*7+12090C>T (n.*7+12090C>T)
 dbSNP gnomAD v4
20g.34268939A=CA2361127647AHCY,ASIPc.223-52A= (n.223-52A=)
c.235-52A= (n.235-52A=)
c.*7+12088T= (n.*7+12088T=)
20g.34268939A>GCA2361127648AHCY,ASIPc.223-52A>G (n.223-52A>G)
c.235-52A>G (n.235-52A>G)
c.*7+12088T>C (n.*7+12088T>C)
 dbSNP gnomAD v4
20g.34268939A>TCA2361127649AHCY,ASIPc.223-52A>T (n.223-52A>T)
c.235-52A>T (n.235-52A>T)
c.*7+12088T>A (n.*7+12088T>A)
 dbSNP
20g.34268940C>ACA2652532290AHCY,ASIPc.223-51C>A (n.223-51C>A)
c.235-51C>A (n.235-51C>A)
c.*7+12087G>T (n.*7+12087G>T)
 gnomAD v4
20g.34268940C>GCA2652532291AHCY,ASIPc.223-51C>G (n.223-51C>G)
c.235-51C>G (n.235-51C>G)
c.*7+12087G>C (n.*7+12087G>C)
 gnomAD v4
20g.34268940C>TCA2741663889AHCY,ASIPc.223-51C>T (n.223-51C>T)
c.235-51C>T (n.235-51C>T)
c.*7+12087G>A (n.*7+12087G>A)
20g.34268941C>ACA313334437AHCY,ASIPc.223-50C>A (n.223-50C>A)
c.235-50C>A (n.235-50C>A)
c.*7+12086G>T (n.*7+12086G>T)
 dbSNP gnomAD v4
20g.34268941C=CA2361127650AHCY,ASIPc.223-50C= (n.223-50C=)
c.235-50C= (n.235-50C=)
c.*7+12086G= (n.*7+12086G=)
20g.34268941C>TCA2652532292AHCY,ASIPc.223-50C>T (n.223-50C>T)
c.235-50C>T (n.235-50C>T)
c.*7+12086G>A (n.*7+12086G>A)
 gnomAD v4
20g.34268942G>ACA1017103577AHCY,ASIPc.223-49G>A (n.223-49G>A)
c.235-49G>A (n.235-49G>A)
c.*7+12085C>T (n.*7+12085C>T)
 dbSNP gnomAD v3 gnomAD v4
20g.34268942G>CCA2652532293AHCY,ASIPc.223-49G>C (n.223-49G>C)
c.235-49G>C (n.235-49G>C)
c.*7+12085C>G (n.*7+12085C>G)
 gnomAD v4
20g.34268942G=CA2361127651AHCY,ASIPc.223-49G= (n.223-49G=)
c.235-49G= (n.235-49G=)
c.*7+12085C= (n.*7+12085C=)
20g.34268942G>TCA2652532294AHCY,ASIPc.223-49G>T (n.223-49G>T)
c.235-49G>T (n.235-49G>T)
c.*7+12085C>A (n.*7+12085C>A)
 gnomAD v4
20g.34268943G>ACA2652532295AHCY,ASIPc.223-48G>A (n.223-48G>A)
c.235-48G>A (n.235-48G>A)
c.*7+12084C>T (n.*7+12084C>T)
 gnomAD v4
20g.34268943G>CCA2577375038AHCY,ASIPc.223-48G>C (n.223-48G>C)
c.235-48G>C (n.235-48G>C)
c.*7+12084C>G (n.*7+12084C>G)
20g.34268944A=CA2361127652AHCY,ASIPc.223-47A= (n.223-47A=)
c.235-47A= (n.235-47A=)
c.*7+12083T= (n.*7+12083T=)
20g.34268944A>CCA635720146AHCY,ASIPc.223-47A>C (n.223-47A>C)
c.235-47A>C (n.235-47A>C)
c.*7+12083T>G (n.*7+12083T>G)
 dbSNP gnomAD v2 gnomAD v4
20g.34268945G>ACA635720147AHCY,ASIPc.223-46G>A (n.223-46G>A)
c.235-46G>A (n.235-46G>A)
c.*7+12082C>T (n.*7+12082C>T)
 dbSNP gnomAD v2 gnomAD v4
20g.34268945G>CCA9820675AHCY,ASIPc.223-46G>C (n.223-46G>C)
c.235-46G>C (n.235-46G>C)
c.*7+12082C>G (n.*7+12082C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.34268945G=CA2361127653AHCY,ASIPc.223-46G= (n.223-46G=)
c.235-46G= (n.235-46G=)
c.*7+12082C= (n.*7+12082C=)
20g.34268945G>TCA2652532296AHCY,ASIPc.223-46G>T (n.223-46G>T)
c.235-46G>T (n.235-46G>T)
c.*7+12082C>A (n.*7+12082C>A)
 gnomAD v4
20g.34268946G>TCA2652532297AHCY,ASIPc.223-45G>T (n.223-45G>T)
c.235-45G>T (n.235-45G>T)
c.*7+12081C>A (n.*7+12081C>A)
 gnomAD v4
20g.34268947G>ACA2652532298AHCY,ASIPc.223-44G>A (n.223-44G>A)
c.235-44G>A (n.235-44G>A)
c.*7+12080C>T (n.*7+12080C>T)
 gnomAD v4
20g.34268947G>CCA635720148AHCY,ASIPc.223-44G>C (n.223-44G>C)
c.235-44G>C (n.235-44G>C)
c.*7+12080C>G (n.*7+12080C>G)
 dbSNP gnomAD v2 gnomAD v4
20g.34268947G=CA2361127654AHCY,ASIPc.223-44G= (n.223-44G=)
c.235-44G= (n.235-44G=)
c.*7+12080C= (n.*7+12080C=)
20g.34268948G>ACA743840364AHCY,ASIPc.223-43G>A (n.223-43G>A)
c.235-43G>A (n.235-43G>A)
c.*7+12079C>T (n.*7+12079C>T)
 dbSNP gnomAD v4
20g.34268948G=CA2361127655AHCY,ASIPc.223-43G= (n.223-43G=)
c.235-43G= (n.235-43G=)
c.*7+12079C= (n.*7+12079C=)
20g.34268948G>TCA2652532299AHCY,ASIPc.223-43G>T (n.223-43G>T)
c.235-43G>T (n.235-43G>T)
c.*7+12079C>A (n.*7+12079C>A)
 gnomAD v4
20g.34268949T>ACA2591922968AHCY,ASIPc.223-42T>A (n.223-42T>A)
c.235-42T>A (n.235-42T>A)
c.*7+12078A>T (n.*7+12078A>T)
 dbSNP gnomAD v3 gnomAD v4
20g.34268949T>GCA2652532300AHCY,ASIPc.223-42T>G (n.223-42T>G)
c.235-42T>G (n.235-42T>G)
c.*7+12078A>C (n.*7+12078A>C)
 gnomAD v4
20g.34268950G>ACA9820676AHCY,ASIPc.223-41G>A (n.223-41G>A)
c.235-41G>A (n.235-41G>A)
c.*7+12077C>T (n.*7+12077C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.34268950G=CA2361127656AHCY,ASIPc.223-41G= (n.223-41G=)
c.235-41G= (n.235-41G=)
c.*7+12077C= (n.*7+12077C=)
20g.34268950G>TCA1017103582AHCY,ASIPc.223-41G>T (n.223-41G>T)
c.235-41G>T (n.235-41G>T)
c.*7+12077C>A (n.*7+12077C>A)
 dbSNP gnomAD v3 gnomAD v4
20g.34268951G>TCA2652532301AHCY,ASIPc.223-40G>T (n.223-40G>T)
c.235-40G>T (n.235-40G>T)
c.*7+12076C>A (n.*7+12076C>A)
 gnomAD v4
20g.34268952G>ACA2577375039AHCY,ASIPc.223-39G>A (n.223-39G>A)
c.235-39G>A (n.235-39G>A)
c.*7+12075C>T (n.*7+12075C>T)
20g.34268952G>CCA2652532302AHCY,ASIPc.223-39G>C (n.223-39G>C)
c.235-39G>C (n.235-39G>C)
c.*7+12075C>G (n.*7+12075C>G)
 gnomAD v4
20g.34268953C>ACA2652532303AHCY,ASIPc.223-38C>A (n.223-38C>A)
c.235-38C>A (n.235-38C>A)
c.*7+12074G>T (n.*7+12074G>T)
 gnomAD v4
20g.34268953C=CA2361127657AHCY,ASIPc.223-38C= (n.223-38C=)
c.235-38C= (n.235-38C=)
c.*7+12074G= (n.*7+12074G=)
20g.34268953C>TCA2361127658AHCY,ASIPc.223-38C>T (n.223-38C>T)
c.235-38C>T (n.235-38C>T)
c.*7+12074G>A (n.*7+12074G>A)
 dbSNP gnomAD v4
20g.34268954G>ACA313334446AHCY,ASIPc.223-37G>A (n.223-37G>A)
c.235-37G>A (n.235-37G>A)
c.*7+12073C>T (n.*7+12073C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.34268954G=CA2361127659AHCY,ASIPc.223-37G= (n.223-37G=)
c.235-37G= (n.235-37G=)
c.*7+12073C= (n.*7+12073C=)
20g.34268954G>TCA2652532304AHCY,ASIPc.223-37G>T (n.223-37G>T)
c.235-37G>T (n.235-37G>T)
c.*7+12073C>A (n.*7+12073C>A)
 gnomAD v4
20g.34268956G=CA2361127660AHCY,ASIPc.223-35G= (n.223-35G=)
c.235-35G= (n.235-35G=)
c.*7+12071C= (n.*7+12071C=)
20g.34268956G>TCA2361127661AHCY,ASIPc.223-35G>T (n.223-35G>T)
c.235-35G>T (n.235-35G>T)
c.*7+12071C>A (n.*7+12071C>A)
 dbSNP gnomAD v4
20g.34268957G>ACA743840383AHCY,ASIPc.223-34G>A (n.223-34G>A)
c.235-34G>A (n.235-34G>A)
c.*7+12070C>T (n.*7+12070C>T)
 dbSNP gnomAD v4
20g.34268957G=CA2361127662AHCY,ASIPc.223-34G= (n.223-34G=)
c.235-34G= (n.235-34G=)
c.*7+12070C= (n.*7+12070C=)
20g.34268957G>TCA2652532305AHCY,ASIPc.223-34G>T (n.223-34G>T)
c.235-34G>T (n.235-34G>T)
c.*7+12070C>A (n.*7+12070C>A)
 gnomAD v4
20g.34268958C>ACA2652532306AHCY,ASIPc.223-33C>A (n.223-33C>A)
c.235-33C>A (n.235-33C>A)
c.*7+12069G>T (n.*7+12069G>T)
 gnomAD v4
20g.34268958C=CA2361127663AHCY,ASIPc.223-33C= (n.223-33C=)
c.235-33C= (n.235-33C=)
c.*7+12069G= (n.*7+12069G=)
20g.34268958C>TCA9820677AHCY,ASIPc.223-33C>T (n.223-33C>T)
c.235-33C>T (n.235-33C>T)
c.*7+12069G>A (n.*7+12069G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.34268959C>ACA2652532307AHCY,ASIPc.223-32C>A (n.223-32C>A)
c.235-32C>A (n.235-32C>A)
c.*7+12068G>T (n.*7+12068G>T)
 gnomAD v4
20g.34268959C=CA2361127664AHCY,ASIPc.223-32C= (n.223-32C=)
c.235-32C= (n.235-32C=)
c.*7+12068G= (n.*7+12068G=)
20g.34268959C>TCA635720151AHCY,ASIPc.223-32C>T (n.223-32C>T)
c.235-32C>T (n.235-32C>T)
c.*7+12068G>A (n.*7+12068G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.34268960G>CCA1017103588AHCY,ASIPc.223-31G>C (n.223-31G>C)
c.235-31G>C (n.235-31G>C)
c.*7+12067C>G (n.*7+12067C>G)
 dbSNP gnomAD v3 gnomAD v4
20g.34268960G=CA2361127665AHCY,ASIPc.223-31G= (n.223-31G=)
c.235-31G= (n.235-31G=)
c.*7+12067C= (n.*7+12067C=)
20g.34268960G>TCA2652532308AHCY,ASIPc.223-31G>T (n.223-31G>T)
c.235-31G>T (n.235-31G>T)
c.*7+12067C>A (n.*7+12067C>A)
 gnomAD v4
20g.34268961G>ACA2652532309AHCY,ASIPc.223-30G>A (n.223-30G>A)
c.235-30G>A (n.235-30G>A)
c.*7+12066C>T (n.*7+12066C>T)
 gnomAD v4
20g.34268961G>CCA2652532310AHCY,ASIPc.223-30G>C (n.223-30G>C)
c.235-30G>C (n.235-30G>C)
c.*7+12066C>G (n.*7+12066C>G)
 gnomAD v4
20g.34268962C>ACA2652532311AHCY,ASIPc.223-29C>A (n.223-29C>A)
c.235-29C>A (n.235-29C>A)
c.*7+12065G>T (n.*7+12065G>T)
 gnomAD v4
20g.34268962C=CA2361127666AHCY,ASIPc.223-29C= (n.223-29C=)
c.235-29C= (n.235-29C=)
c.*7+12065G= (n.*7+12065G=)
20g.34268962C>TCA635720197AHCY,ASIPc.223-29C>T (n.223-29C>T)
c.235-29C>T (n.235-29C>T)
c.*7+12065G>A (n.*7+12065G>A)
 dbSNP gnomAD v2 gnomAD v4
20g.34268963T>CCA2652532312AHCY,ASIPc.223-28T>C (n.223-28T>C)
c.235-28T>C (n.235-28T>C)
c.*7+12064A>G (n.*7+12064A>G)
 gnomAD v4
20g.34268964C>ACA2652532313AHCY,ASIPc.223-27C>A (n.223-27C>A)
c.235-27C>A (n.235-27C>A)
c.*7+12063G>T (n.*7+12063G>T)
 gnomAD v4
20g.34268964C=CA2361127667AHCY,ASIPc.223-27C= (n.223-27C=)
c.235-27C= (n.235-27C=)
c.*7+12063G= (n.*7+12063G=)
20g.34268964C>GCA1017103589AHCY,ASIPc.223-27C>G (n.223-27C>G)
c.235-27C>G (n.235-27C>G)
c.*7+12063G>C (n.*7+12063G>C)
 dbSNP gnomAD v3 gnomAD v4
20g.34268964C>TCA2816205307AHCY,ASIPc.223-27C>T (n.223-27C>T)
c.235-27C>T (n.235-27C>T)
c.*7+12063G>A (n.*7+12063G>A)
20g.34268965A=CA2361127668AHCY,ASIPc.223-26A= (n.223-26A=)
c.235-26A= (n.235-26A=)
c.*7+12062T= (n.*7+12062T=)
20g.34268965A>CCA635720198AHCY,ASIPc.223-26A>C (n.223-26A>C)
c.235-26A>C (n.235-26A>C)
c.*7+12062T>G (n.*7+12062T>G)
 dbSNP gnomAD v2 gnomAD v4
20g.34268965A>GCA635720199AHCY,ASIPc.223-26A>G (n.223-26A>G)
c.235-26A>G (n.235-26A>G)
c.*7+12062T>C (n.*7+12062T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.34268966T>CCA2652532314AHCY,ASIPc.223-25T>C (n.223-25T>C)
c.235-25T>C (n.235-25T>C)
c.*7+12061A>G (n.*7+12061A>G)
 gnomAD v4
20g.34268967A>GCA2652532316AHCY,ASIPc.223-24A>G (n.223-24A>G)
c.235-24A>G (n.235-24A>G)
c.*7+12060T>C (n.*7+12060T>C)
 gnomAD v4
20g.34268969delCA2652532315AHCY,ASIPc.223-22del (n.223-22del)
c.235-22del (n.235-22del)
c.*7+12060del (n.*7+12060del)
 gnomAD v4
20g.34268968A=CA2361127669AHCY,ASIPc.223-23A= (n.223-23A=)
c.235-23A= (n.235-23A=)
c.*7+12059T= (n.*7+12059T=)
20g.34268968A>CCA743840401AHCY,ASIPc.223-23A>C (n.223-23A>C)
c.235-23A>C (n.235-23A>C)
c.*7+12059T>G (n.*7+12059T>G)
 dbSNP
20g.34268970G>ACA2652532317AHCY,ASIPc.223-21G>A (n.223-21G>A)
c.235-21G>A (n.235-21G>A)
c.*7+12057C>T (n.*7+12057C>T)
 dbSNP gnomAD v4
20g.34268970G>TCA2652532318AHCY,ASIPc.223-21G>T (n.223-21G>T)
c.235-21G>T (n.235-21G>T)
c.*7+12057C>A (n.*7+12057C>A)
 gnomAD v4
20g.34268971C>ACA2652532319AHCY,ASIPc.223-20C>A (n.223-20C>A)
c.235-20C>A (n.235-20C>A)
c.*7+12056G>T (n.*7+12056G>T)
 gnomAD v4
20g.34268972C>ACA2652532320AHCY,ASIPc.223-19C>A (n.223-19C>A)
c.235-19C>A (n.235-19C>A)
c.*7+12055G>T (n.*7+12055G>T)
 gnomAD v4
20g.34268972C=CA2361127670AHCY,ASIPc.223-19C= (n.223-19C=)
c.235-19C= (n.235-19C=)
c.*7+12055G= (n.*7+12055G=)
20g.34268972C>TCA313334458AHCY,ASIPc.223-19C>T (n.223-19C>T)
c.235-19C>T (n.235-19C>T)
c.*7+12055G>A (n.*7+12055G>A)
 dbSNP gnomAD v4
20g.34268973C>ACA9820678AHCY,ASIPc.223-18C>A (n.223-18C>A)
c.235-18C>A (n.235-18C>A)
c.*7+12054G>T (n.*7+12054G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.34268973C=CA2361127671AHCY,ASIPc.223-18C= (n.223-18C=)
c.235-18C= (n.235-18C=)
c.*7+12054G= (n.*7+12054G=)
20g.34268973C>GCA2652532321AHCY,ASIPc.223-18C>G (n.223-18C>G)
c.235-18C>G (n.235-18C>G)
c.*7+12054G>C (n.*7+12054G>C)
 gnomAD v4
20g.34268974C>ACA2652532322AHCY,ASIPc.223-17C>A (n.223-17C>A)
c.235-17C>A (n.235-17C>A)
c.*7+12053G>T (n.*7+12053G>T)
 gnomAD v4
20g.34268974C=CA2361127672AHCY,ASIPc.223-17C= (n.223-17C=)
c.235-17C= (n.235-17C=)
c.*7+12053G= (n.*7+12053G=)
20g.34268974C>GCA9820679AHCY,ASIPc.223-17C>G (n.223-17C>G)
c.235-17C>G (n.235-17C>G)
c.*7+12053G>C (n.*7+12053G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.34268974C>TCA2652532323AHCY,ASIPc.223-17C>T (n.223-17C>T)
c.235-17C>T (n.235-17C>T)
c.*7+12053G>A (n.*7+12053G>A)
 gnomAD v4
20g.34268975G>ACA1017103591AHCY,ASIPc.223-16G>A (n.223-16G>A)
c.235-16G>A (n.235-16G>A)
c.*7+12052C>T (n.*7+12052C>T)
 dbSNP gnomAD v3 gnomAD v4
20g.34268975G>CCA2652532325AHCY,ASIPc.223-16G>C (n.223-16G>C)
c.235-16G>C (n.235-16G>C)
c.*7+12052C>G (n.*7+12052C>G)
 gnomAD v4
20g.34268975G=CA2361127673AHCY,ASIPc.223-16G= (n.223-16G=)
c.235-16G= (n.235-16G=)
c.*7+12052C= (n.*7+12052C=)
20g.34268976delCA2652532324AHCY,ASIPc.223-15del (n.223-15del)
c.235-15del (n.235-15del)
c.*7+12052del (n.*7+12052del)
 gnomAD v4
20g.34268977C>ACA2652532326AHCY,ASIPc.223-14C>A (n.223-14C>A)
c.235-14C>A (n.235-14C>A)
c.*7+12050G>T (n.*7+12050G>T)
 gnomAD v4
20g.34268977C=CA2361127674AHCY,ASIPc.223-14C= (n.223-14C=)
c.235-14C= (n.235-14C=)
c.*7+12050G= (n.*7+12050G=)
20g.34268977C>TCA9820680AHCY,ASIPc.223-14C>T (n.223-14C>T)
c.235-14C>T (n.235-14C>T)
c.*7+12050G>A (n.*7+12050G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.34268978G>ACA2652532327AHCY,ASIPc.223-13G>A (n.223-13G>A)
c.235-13G>A (n.235-13G>A)
c.*7+12049C>T (n.*7+12049C>T)
 gnomAD v4
20g.34268978G>TCA2652532328AHCY,ASIPc.223-13G>T (n.223-13G>T)
c.235-13G>T (n.235-13G>T)
c.*7+12049C>A (n.*7+12049C>A)
 gnomAD v4
20g.34268979T>ACA2652532329AHCY,ASIPc.223-12T>A (n.223-12T>A)
c.235-12T>A (n.235-12T>A)
c.*7+12048A>T (n.*7+12048A>T)
 gnomAD v4
20g.34268979T>CCA635720200AHCY,ASIPc.223-12T>C (n.223-12T>C)
c.235-12T>C (n.235-12T>C)
c.*7+12048A>G (n.*7+12048A>G)
 dbSNP gnomAD v2 gnomAD v4
20g.34268979T=CA2361127675AHCY,ASIPc.223-12T= (n.223-12T=)
c.235-12T= (n.235-12T=)
c.*7+12048A= (n.*7+12048A=)
20g.34268981T>CCA2652532330AHCY,ASIPc.223-10T>C (n.223-10T>C)
c.235-10T>C (n.235-10T>C)
c.*7+12046A>G (n.*7+12046A>G)
 gnomAD v4
20g.34268981_34268982delinsTCCA2361127676AHCY,ASIPc.223-10_223-9delinsTC (n.223-10_223-9delinsTC)
c.235-10_235-9delinsTC (n.235-10_235-9delinsTC)
c.*7+12045_*7+12046delinsGA (n.*7+12045_*7+12046delinsGA)
20g.34268982C=CA2361127677AHCY,ASIPc.223-9C= (n.223-9C=)
c.235-9C= (n.235-9C=)
c.*7+12045G= (n.*7+12045G=)
20g.34268982C>TCA9820681AHCY,ASIPc.223-9C>T (n.223-9C>T)
c.235-9C>T (n.235-9C>T)
c.*7+12045G>A (n.*7+12045G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.34268984delCA635720201AHCY,ASIPc.223-7del (n.223-7del)
c.235-7del (n.235-7del)
c.*7+12045del (n.*7+12045del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.34268983C>ACA2652532331AHCY,ASIPc.223-8C>A (n.223-8C>A)
c.235-8C>A (n.235-8C>A)
c.*7+12044G>T (n.*7+12044G>T)
 gnomAD v4
20g.34268983C=CA2361127678AHCY,ASIPc.223-8C= (n.223-8C=)
c.235-8C= (n.235-8C=)
c.*7+12044G= (n.*7+12044G=)
20g.34268983C>TCA1017103599AHCY,ASIPc.223-8C>T (n.223-8C>T)
c.235-8C>T (n.235-8C>T)
c.*7+12044G>A (n.*7+12044G>A)
 dbSNP gnomAD v3 gnomAD v4
20g.34268984C>ACA2652532332AHCY,ASIPc.223-7C>A (n.223-7C>A)
c.235-7C>A (n.235-7C>A)
c.*7+12043G>T (n.*7+12043G>T)
 gnomAD v4
20g.34268984C=CA2361127679AHCY,ASIPc.223-7C= (n.223-7C=)
c.235-7C= (n.235-7C=)
c.*7+12043G= (n.*7+12043G=)
20g.34268984C>TCA2361127680AHCY,ASIPc.223-7C>T (n.223-7C>T)
c.235-7C>T (n.235-7C>T)
c.*7+12043G>A (n.*7+12043G>A)
 dbSNP
20g.34268986C>ACA2652532333AHCY,ASIPc.223-5C>A (n.223-5C>A)
c.235-5C>A (n.235-5C>A)
c.*7+12041G>T (n.*7+12041G>T)
 gnomAD v4
20g.34268986C>TCA2652532334AHCY,ASIPc.223-5C>T (n.223-5C>T)
c.235-5C>T (n.235-5C>T)
c.*7+12041G>A (n.*7+12041G>A)
 gnomAD v4
20g.34268987G>ACA9820682AHCY,ASIPc.223-4G>A (n.223-4G>A)
c.235-4G>A (n.235-4G>A)
c.*7+12040C>T (n.*7+12040C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.34268987G>CCA2736424514AHCY,ASIPc.223-4G>C (n.223-4G>C)
c.235-4G>C (n.235-4G>C)
c.*7+12040C>G (n.*7+12040C>G)
 dbSNP
20g.34268987G=CA2361127681AHCY,ASIPc.223-4G= (n.223-4G=)
c.235-4G= (n.235-4G=)
c.*7+12040C= (n.*7+12040C=)
20g.34268987G>TCA635720202AHCY,ASIPc.223-4G>T (n.223-4G>T)
c.235-4G>T (n.235-4G>T)
c.*7+12040C>A (n.*7+12040C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.34268988C>ACA2652532335AHCY,ASIPc.223-3C>A (n.223-3C>A)
c.235-3C>A (n.235-3C>A)
c.*7+12039G>T (n.*7+12039G>T)
 gnomAD v4
20g.34268988C>TCA2652532336AHCY,ASIPc.223-3C>T (n.223-3C>T)
c.235-3C>T (n.235-3C>T)
c.*7+12039G>A (n.*7+12039G>A)
 gnomAD v4
20g.34268988_34268991delinsCAGACA2361127682AHCY,ASIPc.223-3_223delinsCAGA
c.235-3_235delinsCAGA
c.*7+12036_*7+12039delinsTCTG (n.*7+12036_*7+12039delinsTCTG)
20g.34268989A>CCA408647724AHCY,ASIPc.223-2A>C (n.223-2A>C)
c.235-2A>C (n.235-2A>C)
c.*7+12038T>G (n.*7+12038T>G)
20g.34268989A>GCA408647728AHCY,ASIPc.223-2A>G (n.223-2A>G)
c.235-2A>G (n.235-2A>G)
c.*7+12038T>C (n.*7+12038T>C)
 gnomAD v4
20g.34268989A>TCA408647719AHCY,ASIPc.223-2A>T (n.223-2A>T)
c.235-2A>T (n.235-2A>T)
c.*7+12038T>A (n.*7+12038T>A)
 gnomAD v4
20g.34268991_34268993delCA9820683AHCY,ASIPc.223_225del
c.235_237del
c.*7+12036_*7+12038del (n.*7+12036_*7+12038del)
 dbSNP ExAC
20g.34268990G>ACA408647741AHCY,ASIPc.223-1G>A (n.223-1G>A)
c.235-1G>A (n.235-1G>A)
c.*7+12037C>T (n.*7+12037C>T)
20g.34268990G>CCA408647739AHCY,ASIPc.223-1G>C (n.223-1G>C)
c.235-1G>C (n.235-1G>C)
c.*7+12037C>G (n.*7+12037C>G)
20g.34268990G>TCA408647740AHCY,ASIPc.223-1G>T (n.223-1G>T)
c.235-1G>T (n.235-1G>T)
c.*7+12037C>A (n.*7+12037C>A)
20g.34268991A=CA2361127683AHCY,ASIPc.223A= (p.Lys75=)
c.235A= (p.Lys79=)
c.*7+12036T= (n.*7+12036T=)
20g.34268991A>CCA408647744AHCY,ASIPc.223A>C (p.Lys75Gln)
c.235A>C (p.Lys79Gln)
c.*7+12036T>G (n.*7+12036T>G)
20g.34268991A>GCA9820684AHCY,ASIPc.223A>G (p.Lys75Glu)
c.235A>G (p.Lys79Glu)
c.*7+12036T>C (n.*7+12036T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.34268991A>TCA408647748AHCY,ASIPc.223A>T (p.Lys75Ter)
c.235A>T (p.Lys79Ter)
c.*7+12036T>A (n.*7+12036T>A)
20g.34268992A>CCA408647762AHCY,ASIPc.224A>C (p.Lys75Thr)
c.236A>C (p.Lys79Thr)
c.*7+12035T>G (n.*7+12035T>G)
 gnomAD v4
20g.34268992A>GCA408647756AHCY,ASIPc.224A>G (p.Lys75Arg)
c.236A>G (p.Lys79Arg)
c.*7+12035T>C (n.*7+12035T>C)
20g.34268992A>TCA408647754AHCY,ASIPc.224A>T (p.Lys75Met)
c.236A>T (p.Lys79Met)
c.*7+12035T>A (n.*7+12035T>A)
20g.34268993G>ACA9820685AHCY,ASIPc.225G>A (p.Lys75=)
c.237G>A (p.Lys79=)
c.*7+12034C>T (n.*7+12034C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.34268993G>CCA408647771AHCY,ASIPc.225G>C (p.Lys75Asn)
c.237G>C (p.Lys79Asn)
c.*7+12034C>G (n.*7+12034C>G)
20g.34268993G=CA2361127684AHCY,ASIPc.225G= (p.Lys75=)
c.237G= (p.Lys79=)
c.*7+12034C= (n.*7+12034C=)
20g.34268993G>TCA408647785AHCY,ASIPc.225G>T (p.Lys75Asn)
c.237G>T (p.Lys79Asn)
c.*7+12034C>A (n.*7+12034C>A)
 COSMIC
20g.34268994G>ACA408647795AHCY,ASIPc.226G>A (p.Glu76Lys)
c.238G>A (p.Glu80Lys)
c.*7+12033C>T (n.*7+12033C>T)
20g.34268994G>CCA408647797AHCY,ASIPc.226G>C (p.Glu76Gln)
c.238G>C (p.Glu80Gln)
c.*7+12033C>G (n.*7+12033C>G)
20g.34268994G>TCA408647799AHCY,ASIPc.226G>T (p.Glu76Ter)
c.238G>T (p.Glu80Ter)
c.*7+12033C>A (n.*7+12033C>A)
20g.34268995A=CA2361127685AHCY,ASIPc.227A= (p.Glu76=)
c.239A= (p.Glu80=)
c.*7+12032T= (n.*7+12032T=)
20g.34268995A>CCA408647802AHCY,ASIPc.227A>C (p.Glu76Ala)
c.239A>C (p.Glu80Ala)
c.*7+12032T>G (n.*7+12032T>G)
 dbSNP gnomAD v2 gnomAD v4
20g.34268995A>GCA408647804AHCY,ASIPc.227A>G (p.Glu76Gly)
c.239A>G (p.Glu80Gly)
c.*7+12032T>C (n.*7+12032T>C)
 gnomAD v4
20g.34268995A>TCA408647803AHCY,ASIPc.227A>T (p.Glu76Val)
c.239A>T (p.Glu80Val)
c.*7+12032T>A (n.*7+12032T>A)
20g.34268996G>ACA510271131AHCY,ASIPc.228G>A (p.Glu76=)
c.240G>A (p.Glu80=)
c.*7+12031C>T (n.*7+12031C>T)
20g.34268996G>CCA408647805AHCY,ASIPc.228G>C (p.Glu76Asp)
c.240G>C (p.Glu80Asp)
c.*7+12031C>G (n.*7+12031C>G)
20g.34268996G>TCA408647807AHCY,ASIPc.228G>T (p.Glu76Asp)
c.240G>T (p.Glu80Asp)
c.*7+12031C>A (n.*7+12031C>A)
20g.34268997G>ACA408647818AHCY,ASIPc.229G>A (p.Ala77Thr)
c.241G>A (p.Ala81Thr)
c.*7+12030C>T (n.*7+12030C>T)
 gnomAD v4
20g.34268997G>CCA408647840AHCY,ASIPc.229G>C (p.Ala77Pro)
c.241G>C (p.Ala81Pro)
c.*7+12030C>G (n.*7+12030C>G)
20g.34268997G>TCA408647849AHCY,ASIPc.229G>T (p.Ala77Ser)
c.241G>T (p.Ala81Ser)
c.*7+12030C>A (n.*7+12030C>A)
20g.34268998C>ACA9820686AHCY,ASIPc.230C>A (p.Ala77Asp)
c.242C>A (p.Ala81Asp)
c.*7+12029G>T (n.*7+12029G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.34268998C=CA2361127686AHCY,ASIPc.230C= (p.Ala77=)
c.242C= (p.Ala81=)
c.*7+12029G= (n.*7+12029G=)
20g.34268998C>GCA408647854AHCY,ASIPc.230C>G (p.Ala77Gly)
c.242C>G (p.Ala81Gly)
c.*7+12029G>C (n.*7+12029G>C)
20g.34268998C>TCA408647856AHCY,ASIPc.230C>T (p.Ala77Val)
c.242C>T (p.Ala81Val)
c.*7+12029G>A (n.*7+12029G>A)
 dbSNP gnomAD v4
20g.34268999T>ACA510271132AHCY,ASIPc.231T>A (p.Ala77=)
c.243T>A (p.Ala81=)
c.*7+12028A>T (n.*7+12028A>T)
20g.34268999T>CCA510271133AHCY,ASIPc.231T>C (p.Ala77=)
c.243T>C (p.Ala81=)
c.*7+12028A>G (n.*7+12028A>G)
20g.34268999T>GCA510271134AHCY,ASIPc.231T>G (p.Ala77=)
c.243T>G (p.Ala81=)
c.*7+12028A>C (n.*7+12028A>C)
 gnomAD v4
20g.34269000T>ACA408647863AHCY,ASIPc.232T>A (p.Ser78Thr)
c.244T>A (p.Ser82Thr)
c.*7+12027A>T (n.*7+12027A>T)
20g.34269000T>CCA408647865AHCY,ASIPc.232T>C (p.Ser78Pro)
c.244T>C (p.Ser82Pro)
c.*7+12027A>G (n.*7+12027A>G)
 gnomAD v4
20g.34269000T>GCA408647872AHCY,ASIPc.232T>G (p.Ser78Ala)
c.244T>G (p.Ser82Ala)
c.*7+12027A>C (n.*7+12027A>C)
20g.34269001C>ACA408647883AHCY,ASIPc.233C>A (p.Ser78Ter)
c.245C>A (p.Ser82Ter)
c.*7+12026G>T (n.*7+12026G>T)
 gnomAD v4
20g.34269001C>GCA408647878AHCY,ASIPc.233C>G (p.Ser78Trp)
c.245C>G (p.Ser82Trp)
c.*7+12026G>C (n.*7+12026G>C)
20g.34269001C>TCA408647875AHCY,ASIPc.233C>T (p.Ser78Leu)
c.245C>T (p.Ser82Leu)
c.*7+12026G>A (n.*7+12026G>A)
 gnomAD v4
20g.34269002G>ACA510271135AHCY,ASIPc.234G>A (p.Ser78=)
c.246G>A (p.Ser82=)
c.*7+12025C>T (n.*7+12025C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.34269002G>CCA510271136AHCY,ASIPc.234G>C (p.Ser78=)
c.246G>C (p.Ser82=)
c.*7+12025C>G (n.*7+12025C>G)
 gnomAD v4
20g.34269002G=CA2361127687AHCY,ASIPc.234G= (p.Ser78=)
c.246G= (p.Ser82=)
c.*7+12025C= (n.*7+12025C=)
20g.34269002G>TCA510271137AHCY,ASIPc.234G>T (p.Ser78=)
c.246G>T (p.Ser82=)
c.*7+12025C>A (n.*7+12025C>A)
 dbSNP gnomAD v4
20g.34269002_34269003insGAACA2361127688AHCY,ASIPc.234_235insGAA (p.Ser78_Met79insGlu)
c.246_247insGAA (p.Ser82_Met83insGlu)
c.*7+12024_*7+12025insTTC (n.*7+12024_*7+12025insTTC)
 dbSNP
20g.34269003A>CCA408647887AHCY,ASIPc.235A>C (p.Met79Leu)
c.247A>C (p.Met83Leu)
c.*7+12024T>G (n.*7+12024T>G)
20g.34269003A>GCA408647893AHCY,ASIPc.235A>G (p.Met79Val)
c.247A>G (p.Met83Val)
c.*7+12024T>C (n.*7+12024T>C)
20g.34269003A>TCA408647900AHCY,ASIPc.235A>T (p.Met79Leu)
c.247A>T (p.Met83Leu)
c.*7+12024T>A (n.*7+12024T>A)
20g.34269004T>ACA408647903AHCY,ASIPc.236T>A (p.Met79Lys)
c.248T>A (p.Met83Lys)
c.*7+12023A>T (n.*7+12023A>T)
20g.34269004T>CCA408647906AHCY,ASIPc.236T>C (p.Met79Thr)
c.248T>C (p.Met83Thr)
c.*7+12023A>G (n.*7+12023A>G)
 gnomAD v4
20g.34269004T>GCA408647909AHCY,ASIPc.236T>G (p.Met79Arg)
c.248T>G (p.Met83Arg)
c.*7+12023A>C (n.*7+12023A>C)
20g.34269005delCA2652532337AHCY,ASIPc.237del (p.Met79IlefsTer?)
c.249del (p.Met83IlefsTer?)
c.*7+12022del (n.*7+12022del)
 gnomAD v4
20g.34269005G>ACA408647910AHCY,ASIPc.237G>A (p.Met79Ile)
c.249G>A (p.Met83Ile)
c.*7+12022C>T (n.*7+12022C>T)
 gnomAD v4
20g.34269005G>CCA408647911AHCY,ASIPc.237G>C (p.Met79Ile)
c.249G>C (p.Met83Ile)
c.*7+12022C>G (n.*7+12022C>G)
 gnomAD v4
20g.34269005G>TCA408647913AHCY,ASIPc.237G>T (p.Met79Ile)
c.249G>T (p.Met83Ile)
c.*7+12022C>A (n.*7+12022C>A)
 gnomAD v4
20g.34269006A>CCA408647915AHCY,ASIPc.238A>C (p.Lys80Gln)
c.250A>C (p.Lys84Gln)
c.*7+12021T>G (n.*7+12021T>G)
20g.34269006A>GCA408647918AHCY,ASIPc.238A>G (p.Lys80Glu)
c.250A>G (p.Lys84Glu)
c.*7+12021T>C (n.*7+12021T>C)
20g.34269006A>TCA408647920AHCY,ASIPc.238A>T (p.Lys80Ter)
c.250A>T (p.Lys84Ter)
c.*7+12021T>A (n.*7+12021T>A)
20g.34269007A>CCA408647925AHCY,ASIPc.239A>C (p.Lys80Thr)
c.251A>C (p.Lys84Thr)
c.*7+12020T>G (n.*7+12020T>G)
20g.34269007A>GCA408647927AHCY,ASIPc.239A>G (p.Lys80Arg)
c.251A>G (p.Lys84Arg)
c.*7+12020T>C (n.*7+12020T>C)
20g.34269007A>TCA408647924AHCY,ASIPc.239A>T (p.Lys80Met)
c.251A>T (p.Lys84Met)
c.*7+12020T>A (n.*7+12020T>A)
20g.34269008G>ACA510271141AHCY,ASIPc.240G>A (p.Lys80=)
c.252G>A (p.Lys84=)
c.*7+12019C>T (n.*7+12019C>T)
 dbSNP gnomAD v2 gnomAD v4
20g.34269008G>CCA408647930AHCY,ASIPc.240G>C (p.Lys80Asn)
c.252G>C (p.Lys84Asn)
c.*7+12019C>G (n.*7+12019C>G)
 dbSNP gnomAD v2 gnomAD v4
20g.34269008G=CA2361127689AHCY,ASIPc.240G= (p.Lys80=)
c.252G= (p.Lys84=)
c.*7+12019C= (n.*7+12019C=)
20g.34269008G>TCA313334504AHCY,ASIPc.240G>T (p.Lys80Asn)
c.252G>T (p.Lys84Asn)
c.*7+12019C>A (n.*7+12019C>A)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
20g.34269009A>CCA408647937AHCY,ASIPc.241A>C (p.Lys81Gln)
c.253A>C (p.Lys85Gln)
c.*7+12018T>G (n.*7+12018T>G)
 gnomAD v4
20g.34269009A>GCA408647938AHCY,ASIPc.241A>G (p.Lys81Glu)
c.253A>G (p.Lys85Glu)
c.*7+12018T>C (n.*7+12018T>C)
20g.34269009A>TCA408647939AHCY,ASIPc.241A>T (p.Lys81Ter)
c.253A>T (p.Lys85Ter)
c.*7+12018T>A (n.*7+12018T>A)
20g.34269011dupCA2652532338AHCY,ASIPc.243dup (p.Val82SerfsTer?)
c.255dup (p.Val86SerfsTer?)
c.*7+12018dup (n.*7+12018dup)
 gnomAD v4
20g.34269010A>CCA408647955AHCY,ASIPc.242A>C (p.Lys81Thr)
c.254A>C (p.Lys85Thr)
c.*7+12017T>G (n.*7+12017T>G)
20g.34269010A>GCA408647942AHCY,ASIPc.242A>G (p.Lys81Arg)
c.254A>G (p.Lys85Arg)
c.*7+12017T>C (n.*7+12017T>C)
20g.34269010A>TCA408647951AHCY,ASIPc.242A>T (p.Lys81Ile)
c.254A>T (p.Lys85Ile)
c.*7+12017T>A (n.*7+12017T>A)
20g.34269011A>CCA408647959AHCY,ASIPc.243A>C (p.Lys81Asn)
c.255A>C (p.Lys85Asn)
c.*7+12016T>G (n.*7+12016T>G)
20g.34269011A>GCA510271143AHCY,ASIPc.243A>G (p.Lys81=)
c.255A>G (p.Lys85=)
c.*7+12016T>C (n.*7+12016T>C)
20g.34269011A>TCA408647965AHCY,ASIPc.243A>T (p.Lys81Asn)
c.255A>T (p.Lys85Asn)
c.*7+12016T>A (n.*7+12016T>A)
20g.34269012G>ACA408647969AHCY,ASIPc.244G>A (p.Val82Met)
c.256G>A (p.Val86Met)
c.*7+12015C>T (n.*7+12015C>T)
 gnomAD v4
20g.34269012G>CCA408647971AHCY,ASIPc.244G>C (p.Val82Leu)
c.256G>C (p.Val86Leu)
c.*7+12015C>G (n.*7+12015C>G)
20g.34269012G>TCA408647974AHCY,ASIPc.244G>T (p.Val82Leu)
c.256G>T (p.Val86Leu)
c.*7+12015C>A (n.*7+12015C>A)
20g.34269013T>ACA408647987AHCY,ASIPc.245T>A (p.Val82Glu)
c.257T>A (p.Val86Glu)
c.*7+12014A>T (n.*7+12014A>T)
 gnomAD v4
20g.34269013T>CCA9820687AHCY,ASIPc.245T>C (p.Val82Ala)
c.257T>C (p.Val86Ala)
c.*7+12014A>G (n.*7+12014A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.34269013T>GCA408647981AHCY,ASIPc.245T>G (p.Val82Gly)
c.257T>G (p.Val86Gly)
c.*7+12014A>C (n.*7+12014A>C)
20g.34269013T=CA2361127690AHCY,ASIPc.245T= (p.Val82=)
c.257T= (p.Val86=)
c.*7+12014A= (n.*7+12014A=)
20g.34269014G>ACA510271148AHCY,ASIPc.246G>A (p.Val82=)
c.258G>A (p.Val86=)
c.*7+12013C>T (n.*7+12013C>T)
 dbSNP gnomAD v3 gnomAD v4
20g.34269014G>CCA510271146AHCY,ASIPc.246G>C (p.Val82=)
c.258G>C (p.Val86=)
c.*7+12013C>G (n.*7+12013C>G)
20g.34269014G=CA2361127691AHCY,ASIPc.246G= (p.Val82=)
c.258G= (p.Val86=)
c.*7+12013C= (n.*7+12013C=)
20g.34269014G>TCA510271147AHCY,ASIPc.246G>T (p.Val82=)
c.258G>T (p.Val86=)
c.*7+12013C>A (n.*7+12013C>A)
 gnomAD v4
20g.34269015G>ACA408647996AHCY,ASIPc.247G>A (p.Val83Met)
c.259G>A (p.Val87Met)
c.*7+12012C>T (n.*7+12012C>T)
 gnomAD v4
20g.34269015G>CCA408648008AHCY,ASIPc.247G>C (p.Val83Leu)
c.259G>C (p.Val87Leu)
c.*7+12012C>G (n.*7+12012C>G)
 gnomAD v4
20g.34269015G>TCA408648006AHCY,ASIPc.247G>T (p.Val83Leu)
c.259G>T (p.Val87Leu)
c.*7+12012C>A (n.*7+12012C>A)
 gnomAD v4
20g.34269016_34269017delCA2652532339AHCY,ASIPc.248_249del (p.Val83AlafsTer?)
c.260_261del (p.Val87AlafsTer?)
c.*7+12011_*7+12012del (n.*7+12011_*7+12012del)
 gnomAD v4
20g.34269016T>ACA408648009AHCY,ASIPc.248T>A (p.Val83Glu)
c.260T>A (p.Val87Glu)
c.*7+12011A>T (n.*7+12011A>T)
20g.34269016T>CCA408648010AHCY,ASIPc.248T>C (p.Val83Ala)
c.260T>C (p.Val87Ala)
c.*7+12011A>G (n.*7+12011A>G)
20g.34269016T>GCA408648014AHCY,ASIPc.248T>G (p.Val83Gly)
c.260T>G (p.Val87Gly)
c.*7+12011A>C (n.*7+12011A>C)
 dbSNP
20g.34269017G>ACA510271149AHCY,ASIPc.249G>A (p.Val83=)
c.261G>A (p.Val87=)
c.*7+12010C>T (n.*7+12010C>T)
 gnomAD v4
20g.34269017G>CCA510271151AHCY,ASIPc.249G>C (p.Val83=)
c.261G>C (p.Val87=)
c.*7+12010C>G (n.*7+12010C>G)
20g.34269017G>TCA510271150AHCY,ASIPc.249G>T (p.Val83=)
c.261G>T (p.Val87=)
c.*7+12010C>A (n.*7+12010C>A)
20g.34269018C>ACA510271152AHCY,ASIPc.250C>A (p.Arg84=)
c.262C>A (p.Arg88=)
c.*7+12009G>T (n.*7+12009G>T)
 gnomAD v4
20g.34269018C>GCA408648029AHCY,ASIPc.250C>G (p.Arg84Gly)
c.262C>G (p.Arg88Gly)
c.*7+12009G>C (n.*7+12009G>C)
20g.34269018C>TCA408648031AHCY,ASIPc.250C>T (p.Arg84Trp)
c.262C>T (p.Arg88Trp)
c.*7+12009G>A (n.*7+12009G>A)
 gnomAD v4
20g.34269018_34269019insCCCCA2652532340AHCY,ASIPc.250_251insCCC (p.Val83_Arg84insPro)
c.262_263insCCC (p.Val87_Arg88insPro)
c.*7+12009_*7+12010insGGG (n.*7+12009_*7+12010insGGG)
 gnomAD v4
20g.34269019G>ACA408648033AHCY,ASIPc.251G>A (p.Arg84Gln)
c.263G>A (p.Arg88Gln)
c.*7+12008C>T (n.*7+12008C>T)
 dbSNP gnomAD v3 gnomAD v4
20g.34269019G>CCA408648034AHCY,ASIPc.251G>C (p.Arg84Pro)
c.263G>C (p.Arg88Pro)
c.*7+12008C>G (n.*7+12008C>G)
20g.34269019G=CA2361127692AHCY,ASIPc.251G= (p.Arg84=)
c.263G= (p.Arg88=)
c.*7+12008C= (n.*7+12008C=)
20g.34269019G>TCA408648035AHCY,ASIPc.251G>T (p.Arg84Leu)
c.263G>T (p.Arg88Leu)
c.*7+12008C>A (n.*7+12008C>A)
 gnomAD v4
20g.34269020G>ACA510271153AHCY,ASIPc.252G>A (p.Arg84=)
c.264G>A (p.Arg88=)
c.*7+12007C>T (n.*7+12007C>T)
 dbSNP gnomAD v2 gnomAD v4
20g.34269020G>CCA510271154AHCY,ASIPc.252G>C (p.Arg84=)
c.264G>C (p.Arg88=)
c.*7+12007C>G (n.*7+12007C>G)
20g.34269020G=CA2361127693AHCY,ASIPc.252G= (p.Arg84=)
c.264G= (p.Arg88=)
c.*7+12007C= (n.*7+12007C=)
20g.34269020G>TCA510271155AHCY,ASIPc.252G>T (p.Arg84=)
c.264G>T (p.Arg88=)
c.*7+12007C>A (n.*7+12007C>A)
 gnomAD v4
20g.34269021C>ACA408648036AHCY,ASIPc.253C>A (p.Pro85Thr)
c.265C>A (p.Pro89Thr)
c.*7+12006G>T (n.*7+12006G>T)
 gnomAD v4
20g.34269021C=CA2361127694AHCY,ASIPc.253C= (p.Pro85=)
c.265C= (p.Pro89=)
c.*7+12006G= (n.*7+12006G=)
20g.34269021C>GCA9820688AHCY,ASIPc.253C>G (p.Pro85Ala)
c.265C>G (p.Pro89Ala)
c.*7+12006G>C (n.*7+12006G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.34269021C>TCA408648037AHCY,ASIPc.253C>T (p.Pro85Ser)
c.265C>T (p.Pro89Ser)
c.*7+12006G>A (n.*7+12006G>A)
 gnomAD v4
20g.34269024delCA2577375040AHCY,ASIPc.256del (p.Arg86GlyfsTer?)
c.268del (p.Arg90GlyfsTer?)
c.*7+12006del (n.*7+12006del)
 gnomAD v4
20g.34269022C>ACA408648039AHCY,ASIPc.254C>A (p.Pro85His)
c.266C>A (p.Pro89His)
c.*7+12005G>T (n.*7+12005G>T)
20g.34269022C=CA2361127695AHCY,ASIPc.254C= (p.Pro85=)
c.266C= (p.Pro89=)
c.*7+12005G= (n.*7+12005G=)
20g.34269022C>GCA9820689AHCY,ASIPc.254C>G (p.Pro85Arg)
c.266C>G (p.Pro89Arg)
c.*7+12005G>C (n.*7+12005G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.34269022C>TCA408648044AHCY,ASIPc.254C>T (p.Pro85Leu)
c.266C>T (p.Pro89Leu)
c.*7+12005G>A (n.*7+12005G>A)
 dbSNP gnomAD v3 gnomAD v4
20g.34269023C>ACA510271156AHCY,ASIPc.255C>A (p.Pro85=)
c.267C>A (p.Pro89=)
c.*7+12004G>T (n.*7+12004G>T)
 dbSNP gnomAD v4
20g.34269023C=CA2361127696AHCY,ASIPc.255C= (p.Pro85=)
c.267C= (p.Pro89=)
c.*7+12004G= (n.*7+12004G=)
20g.34269023C>GCA510271157AHCY,ASIPc.255C>G (p.Pro85=)
c.267C>G (p.Pro89=)
c.*7+12004G>C (n.*7+12004G>C)
20g.34269023C>TCA510271158AHCY,ASIPc.255C>T (p.Pro85=)
c.267C>T (p.Pro89=)
c.*7+12004G>A (n.*7+12004G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.34269024C>ACA510271159AHCY,ASIPc.256C>A (p.Arg86=)
c.268C>A (p.Arg90=)
c.*7+12003G>T (n.*7+12003G>T)
 gnomAD v4 COSMIC
20g.34269024C>GCA408648052AHCY,ASIPc.256C>G (p.Arg86Gly)
c.268C>G (p.Arg90Gly)
c.*7+12003G>C (n.*7+12003G>C)
 gnomAD v4
20g.34269024C>TCA408648048AHCY,ASIPc.256C>T (p.Arg86Trp)
c.268C>T (p.Arg90Trp)
c.*7+12003G>A (n.*7+12003G>A)
 gnomAD v4
20g.34269025G>ACA408648056AHCY,ASIPc.257G>A (p.Arg86Gln)
c.269G>A (p.Arg90Gln)
c.*7+12002C>T (n.*7+12002C>T)
 gnomAD v4
20g.34269025G>CCA408648058AHCY,ASIPc.257G>C (p.Arg86Pro)
c.269G>C (p.Arg90Pro)
c.*7+12002C>G (n.*7+12002C>G)
20g.34269025G>TCA408648060AHCY,ASIPc.257G>T (p.Arg86Leu)
c.269G>T (p.Arg90Leu)
c.*7+12002C>A (n.*7+12002C>A)
20g.34269026G>ACA510271160AHCY,ASIPc.258G>A (p.Arg86=)
c.270G>A (p.Arg90=)
c.*7+12001C>T (n.*7+12001C>T)
 dbSNP gnomAD v2
20g.34269026G>CCA510271161AHCY,ASIPc.258G>C (p.Arg86=)
c.270G>C (p.Arg90=)
c.*7+12001C>G (n.*7+12001C>G)
20g.34269026G=CA2361127697AHCY,ASIPc.258G= (p.Arg86=)
c.270G= (p.Arg90=)
c.*7+12001C= (n.*7+12001C=)
20g.34269026G>TCA510271162AHCY,ASIPc.258G>T (p.Arg86=)
c.270G>T (p.Arg90=)
c.*7+12001C>A (n.*7+12001C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.34269027A=CA2361127699AHCY,ASIPc.259A= (p.Thr87=)
c.271A= (p.Thr91=)
c.*7+12000T= (n.*7+12000T=)
20g.34269027A>CCA408648067AHCY,ASIPc.259A>C (p.Thr87Pro)
c.271A>C (p.Thr91Pro)
c.*7+12000T>G (n.*7+12000T>G)
 dbSNP gnomAD v4 COSMIC
20g.34269027A>GCA408648070AHCY,ASIPc.259A>G (p.Thr87Ala)
c.271A>G (p.Thr91Ala)
c.*7+12000T>C (n.*7+12000T>C)
 gnomAD v4
20g.34269027A>TCA408648100AHCY,ASIPc.259A>T (p.Thr87Ser)
c.271A>T (p.Thr91Ser)
c.*7+12000T>A (n.*7+12000T>A)
20g.34269027_34269028delinsACCA2361127698AHCY,ASIPc.259_260delinsAC (p.Thr87=)
c.271_272delinsAC (p.Thr91=)
c.*7+11999_*7+12000delinsGT (n.*7+11999_*7+12000delinsGT)
20g.34269028C>ACA9820692AHCY,ASIPc.260C>A (p.Thr87Asn)
c.272C>A (p.Thr91Asn)
c.*7+11999G>T (n.*7+11999G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.34269028C=CA2361127700AHCY,ASIPc.260C= (p.Thr87=)
c.272C= (p.Thr91=)
c.*7+11999G= (n.*7+11999G=)
20g.34269028C>GCA408648116AHCY,ASIPc.260C>G (p.Thr87Ser)
c.272C>G (p.Thr91Ser)
c.*7+11999G>C (n.*7+11999G>C)
 gnomAD v4
20g.34269028C>TCA9820691AHCY,ASIPc.260C>T (p.Thr87Ile)
c.272C>T (p.Thr91Ile)
c.*7+11999G>A (n.*7+11999G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.34269033dupCA1017103621AHCY,ASIPc.265dup (p.Leu89ProfsTer?)
c.277dup (p.Leu93ProfsTer?)
c.*7+11999dup (n.*7+11999dup)
 dbSNP gnomAD v3 gnomAD v4
20g.34269033delCA9820690AHCY,ASIPc.265del (p.Leu89TyrfsTer?)
c.277del (p.Leu93TyrfsTer?)
c.*7+11999del (n.*7+11999del)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.34269029C>ACA510271163AHCY,ASIPc.261C>A (p.Thr87=)
c.273C>A (p.Thr91=)
c.*7+11998G>T (n.*7+11998G>T)
20g.34269029C=CA2361127701AHCY,ASIPc.261C= (p.Thr87=)
c.273C= (p.Thr91=)
c.*7+11998G= (n.*7+11998G=)
20g.34269029C>GCA510271164AHCY,ASIPc.261C>G (p.Thr87=)
c.273C>G (p.Thr91=)
c.*7+11998G>C (n.*7+11998G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.34269029C>TCA510271165AHCY,ASIPc.261C>T (p.Thr87=)
c.273C>T (p.Thr91=)
c.*7+11998G>A (n.*7+11998G>A)
 COSMIC
20g.34269030C>ACA408648124AHCY,ASIPc.262C>A (p.Pro88Thr)
c.274C>A (p.Pro92Thr)
c.*7+11997G>T (n.*7+11997G>T)
 dbSNP gnomAD v2 gnomAD v4
20g.34269030C=CA2361127702AHCY,ASIPc.262C= (p.Pro88=)
c.274C= (p.Pro92=)
c.*7+11997G= (n.*7+11997G=)
20g.34269030C>GCA9820694AHCY,ASIPc.262C>G (p.Pro88Ala)
c.274C>G (p.Pro92Ala)
c.*7+11997G>C (n.*7+11997G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.34269030C>TCA9820693AHCY,ASIPc.262C>T (p.Pro88Ser)
c.274C>T (p.Pro92Ser)
c.*7+11997G>A (n.*7+11997G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.34269031C>ACA408648135AHCY,ASIPc.263C>A (p.Pro88His)
c.275C>A (p.Pro92His)
c.*7+11996G>T (n.*7+11996G>T)
 dbSNP gnomAD v4
20g.34269031C=CA2361127703AHCY,ASIPc.263C= (p.Pro88=)
c.275C= (p.Pro92=)
c.*7+11996G= (n.*7+11996G=)
20g.34269031C>GCA408648140AHCY,ASIPc.263C>G (p.Pro88Arg)
c.275C>G (p.Pro92Arg)
c.*7+11996G>C (n.*7+11996G>C)
20g.34269031C>TCA408648137AHCY,ASIPc.263C>T (p.Pro88Leu)
c.275C>T (p.Pro92Leu)
c.*7+11996G>A (n.*7+11996G>A)

Number of alleles fetched