Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.27173148A=CA1842021491TEKc.761-74A= (n.761-74A=)
c.320-74A= (n.320-74A=)
c.449-74A= (n.449-74A=)
9g.27173148A>GCA191325993TEKc.761-74A>G (n.761-74A>G)
c.320-74A>G (n.320-74A>G)
c.449-74A>G (n.449-74A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.27173148A>TCA2689641439TEKc.761-74A>T (n.761-74A>T)
c.320-74A>T (n.320-74A>T)
c.449-74A>T (n.449-74A>T)
 gnomAD v4
9g.27173149T>CCA587124028TEKc.761-73T>C (n.761-73T>C)
c.320-73T>C (n.320-73T>C)
c.449-73T>C (n.449-73T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.27173149T>GCA2689641440TEKc.761-73T>G (n.761-73T>G)
c.320-73T>G (n.320-73T>G)
c.449-73T>G (n.449-73T>G)
 gnomAD v4
9g.27173149T=CA1842021495TEKc.761-73T= (n.761-73T=)
c.320-73T= (n.320-73T=)
c.449-73T= (n.449-73T=)
9g.27173150G>ACA1842021498TEKc.761-72G>A (n.761-72G>A)
c.320-72G>A (n.320-72G>A)
c.449-72G>A (n.449-72G>A)
 dbSNP gnomAD v4
9g.27173150G=CA1842021497TEKc.761-72G= (n.761-72G=)
c.320-72G= (n.320-72G=)
c.449-72G= (n.449-72G=)
9g.27173150G>TCA2579318893TEKc.761-72G>T (n.761-72G>T)
c.320-72G>T (n.320-72G>T)
c.449-72G>T (n.449-72G>T)
9g.27173150_27173151delCA2689641441TEKc.761-72_761-71del (n.761-72_761-71del)
c.320-72_320-71del (n.320-72_320-71del)
c.449-72_449-71del (n.449-72_449-71del)
 gnomAD v4
9g.27173151A=CA1842021500TEKc.761-71A= (n.761-71A=)
c.320-71A= (n.320-71A=)
c.449-71A= (n.449-71A=)
9g.27173151A>GCA191325996TEKc.761-71A>G (n.761-71A>G)
c.320-71A>G (n.320-71A>G)
c.449-71A>G (n.449-71A>G)
 dbSNP gnomAD v3 gnomAD v4
9g.27173152A>GCA2689641442TEKc.761-70A>G (n.761-70A>G)
c.320-70A>G (n.320-70A>G)
c.449-70A>G (n.449-70A>G)
 gnomAD v4
9g.27173152A>TCA2689641443TEKc.761-70A>T (n.761-70A>T)
c.320-70A>T (n.320-70A>T)
c.449-70A>T (n.449-70A>T)
 gnomAD v4
9g.27173154C>ACA2689641444TEKc.761-68C>A (n.761-68C>A)
c.320-68C>A (n.320-68C>A)
c.449-68C>A (n.449-68C>A)
 gnomAD v4
9g.27173154C>GCA2689641445TEKc.761-68C>G (n.761-68C>G)
c.320-68C>G (n.320-68C>G)
c.449-68C>G (n.449-68C>G)
 gnomAD v4
9g.27173155T>CCA2689641446TEKc.761-67T>C (n.761-67T>C)
c.320-67T>C (n.320-67T>C)
c.449-67T>C (n.449-67T>C)
 gnomAD v4
9g.27173158delCA2689641447TEKc.761-64del (n.761-64del)
c.320-64del (n.320-64del)
c.449-64del (n.449-64del)
 gnomAD v4
9g.27173158A>TCA2689641448TEKc.761-64A>T (n.761-64A>T)
c.320-64A>T (n.320-64A>T)
c.449-64A>T (n.449-64A>T)
 gnomAD v4
9g.27173159G>TCA2689641449TEKc.761-63G>T (n.761-63G>T)
c.320-63G>T (n.320-63G>T)
c.449-63G>T (n.449-63G>T)
 gnomAD v4
9g.27173160A>GCA2579318894TEKc.761-62A>G (n.761-62A>G)
c.320-62A>G (n.320-62A>G)
c.449-62A>G (n.449-62A>G)
9g.27173160A>TCA2579318895TEKc.761-62A>T (n.761-62A>T)
c.320-62A>T (n.320-62A>T)
c.449-62A>T (n.449-62A>T)
 gnomAD v4
9g.27173161A=CA1842021505TEKc.761-61A= (n.761-61A=)
c.320-61A= (n.320-61A=)
c.449-61A= (n.449-61A=)
9g.27173161A>GCA191325999TEKc.761-61A>G (n.761-61A>G)
c.320-61A>G (n.320-61A>G)
c.449-61A>G (n.449-61A>G)
 dbSNP gnomAD v3 gnomAD v4
9g.27173162T>CCA2689641451TEKc.761-60T>C (n.761-60T>C)
c.320-60T>C (n.320-60T>C)
c.449-60T>C (n.449-60T>C)
 gnomAD v4
9g.27173162_27173163delCA2689641450TEKc.761-60_761-59del (n.761-60_761-59del)
c.320-60_320-59del (n.320-60_320-59del)
c.449-60_449-59del (n.449-60_449-59del)
 gnomAD v4
9g.27173163T>ACA862769361TEKc.761-59T>A (n.761-59T>A)
c.320-59T>A (n.320-59T>A)
c.449-59T>A (n.449-59T>A)
 dbSNP gnomAD v3 gnomAD v4
9g.27173163T=CA1842021508TEKc.761-59T= (n.761-59T=)
c.320-59T= (n.320-59T=)
c.449-59T= (n.449-59T=)
9g.27173164A=CA1842021515TEKc.761-58A= (n.761-58A=)
c.320-58A= (n.320-58A=)
c.449-58A= (n.449-58A=)
9g.27173164A>CCA862769363TEKc.761-58A>C (n.761-58A>C)
c.320-58A>C (n.320-58A>C)
c.449-58A>C (n.449-58A>C)
 dbSNP gnomAD v3 gnomAD v4
9g.27173164A>GCA587124029TEKc.761-58A>G (n.761-58A>G)
c.320-58A>G (n.320-58A>G)
c.449-58A>G (n.449-58A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.27173165T>CCA191326001TEKc.761-57T>C (n.761-57T>C)
c.320-57T>C (n.320-57T>C)
c.449-57T>C (n.449-57T>C)
 dbSNP gnomAD v4
9g.27173165T>GCA1842021521TEKc.761-57T>G (n.761-57T>G)
c.320-57T>G (n.320-57T>G)
c.449-57T>G (n.449-57T>G)
 dbSNP gnomAD v4
9g.27173165T=CA1842021519TEKc.761-57T= (n.761-57T=)
c.320-57T= (n.320-57T=)
c.449-57T= (n.449-57T=)
9g.27173166G>ACA2689641452TEKc.761-56G>A (n.761-56G>A)
c.320-56G>A (n.320-56G>A)
c.449-56G>A (n.449-56G>A)
 gnomAD v4
9g.27173170T>ACA2689641453TEKc.761-52T>A (n.761-52T>A)
c.320-52T>A (n.320-52T>A)
c.449-52T>A (n.449-52T>A)
 gnomAD v4
9g.27173170T>GCA2783315781TEKc.761-52T>G (n.761-52T>G)
c.320-52T>G (n.320-52T>G)
c.449-52T>G (n.449-52T>G)
9g.27173172C>ACA2689641454TEKc.761-50C>A (n.761-50C>A)
c.320-50C>A (n.320-50C>A)
c.449-50C>A (n.449-50C>A)
 gnomAD v4
9g.27173172C>TCA2689641455TEKc.761-50C>T (n.761-50C>T)
c.320-50C>T (n.320-50C>T)
c.449-50C>T (n.449-50C>T)
 gnomAD v4
9g.27173173A=CA1842021523TEKc.761-49A= (n.761-49A=)
c.320-49A= (n.320-49A=)
c.449-49A= (n.449-49A=)
9g.27173173A>GCA862769365TEKc.761-49A>G (n.761-49A>G)
c.320-49A>G (n.320-49A>G)
c.449-49A>G (n.449-49A>G)
 dbSNP
9g.27173175G>CCA2689641456TEKc.761-47G>C (n.761-47G>C)
c.320-47G>C (n.320-47G>C)
c.449-47G>C (n.449-47G>C)
 gnomAD v4
9g.27173175G>TCA2689641457TEKc.761-47G>T (n.761-47G>T)
c.320-47G>T (n.320-47G>T)
c.449-47G>T (n.449-47G>T)
 gnomAD v4
9g.27173176G=CA1842021527TEKc.761-46G= (n.761-46G=)
c.320-46G= (n.320-46G=)
c.449-46G= (n.449-46G=)
9g.27173176G>TCA1842021526TEKc.761-46G>T (n.761-46G>T)
c.320-46G>T (n.320-46G>T)
c.449-46G>T (n.449-46G>T)
 dbSNP
9g.27173177G>CCA1842021532TEKc.761-45G>C (n.761-45G>C)
c.320-45G>C (n.320-45G>C)
c.449-45G>C (n.449-45G>C)
 dbSNP
9g.27173177G=CA1842021529TEKc.761-45G= (n.761-45G=)
c.320-45G= (n.320-45G=)
c.449-45G= (n.449-45G=)
9g.27173177G>TCA2689641458TEKc.761-45G>T (n.761-45G>T)
c.320-45G>T (n.320-45G>T)
c.449-45G>T (n.449-45G>T)
 gnomAD v4
9g.27173178G>ACA2689641459TEKc.761-44G>A (n.761-44G>A)
c.320-44G>A (n.320-44G>A)
c.449-44G>A (n.449-44G>A)
 gnomAD v4
9g.27173179T>CCA5016008TEKc.761-43T>C (n.761-43T>C)
c.320-43T>C (n.320-43T>C)
c.449-43T>C (n.449-43T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27173179T=CA1842021533TEKc.761-43T= (n.761-43T=)
c.320-43T= (n.320-43T=)
c.449-43T= (n.449-43T=)
9g.27173181G>ACA5016009TEKc.761-41G>A (n.761-41G>A)
c.320-41G>A (n.320-41G>A)
c.449-41G>A (n.449-41G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27173181G>CCA587124033TEKc.761-41G>C (n.761-41G>C)
c.320-41G>C (n.320-41G>C)
c.449-41G>C (n.449-41G>C)
 dbSNP gnomAD v2 gnomAD v4
9g.27173181G=CA1842021537TEKc.761-41G= (n.761-41G=)
c.320-41G= (n.320-41G=)
c.449-41G= (n.449-41G=)
9g.27173182C>ACA2580597115TEKc.761-40C>A (n.761-40C>A)
c.320-40C>A (n.320-40C>A)
c.449-40C>A (n.449-40C>A)
9g.27173182C=CA1842021544TEKc.761-40C= (n.761-40C=)
c.320-40C= (n.320-40C=)
c.449-40C= (n.449-40C=)
9g.27173182C>GCA2580597116TEKc.761-40C>G (n.761-40C>G)
c.320-40C>G (n.320-40C>G)
c.449-40C>G (n.449-40C>G)
 gnomAD v4
9g.27173182C>TCA5016010TEKc.761-40C>T (n.761-40C>T)
c.320-40C>T (n.320-40C>T)
c.449-40C>T (n.449-40C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27173183A=CA1842021548TEKc.761-39A= (n.761-39A=)
c.320-39A= (n.320-39A=)
c.449-39A= (n.449-39A=)
9g.27173183A>GCA5016011TEKc.761-39A>G (n.761-39A>G)
c.320-39A>G (n.320-39A>G)
c.449-39A>G (n.449-39A>G)
 dbSNP ExAC gnomAD v3 gnomAD v4
9g.27173185A>GCA2689641460TEKc.761-37A>G (n.761-37A>G)
c.320-37A>G (n.320-37A>G)
c.449-37A>G (n.449-37A>G)
 gnomAD v4
9g.27173188T>ACA2689641461TEKc.761-34T>A (n.761-34T>A)
c.320-34T>A (n.320-34T>A)
c.449-34T>A (n.449-34T>A)
 gnomAD v4
9g.27173189G>ACA2689641462TEKc.761-33G>A (n.761-33G>A)
c.320-33G>A (n.320-33G>A)
c.449-33G>A (n.449-33G>A)
 gnomAD v4
9g.27173189G>TCA2689641463TEKc.761-33G>T (n.761-33G>T)
c.320-33G>T (n.320-33G>T)
c.449-33G>T (n.449-33G>T)
 gnomAD v4
9g.27173190A=CA1842021553TEKc.761-32A= (n.761-32A=)
c.320-32A= (n.320-32A=)
c.449-32A= (n.449-32A=)
9g.27173190A>GCA2689641464TEKc.761-32A>G (n.761-32A>G)
c.320-32A>G (n.320-32A>G)
c.449-32A>G (n.449-32A>G)
 gnomAD v4
9g.27173190A>TCA587124036TEKc.761-32A>T (n.761-32A>T)
c.320-32A>T (n.320-32A>T)
c.449-32A>T (n.449-32A>T)
 dbSNP gnomAD v2 gnomAD v4
9g.27173191C=CA1842021557TEKc.761-31C= (n.761-31C=)
c.320-31C= (n.320-31C=)
c.449-31C= (n.449-31C=)
9g.27173191C>GCA1842021558TEKc.761-31C>G (n.761-31C>G)
c.320-31C>G (n.320-31C>G)
c.449-31C>G (n.449-31C>G)
 dbSNP gnomAD v4
9g.27173191C>TCA5016012TEKc.761-31C>T (n.761-31C>T)
c.320-31C>T (n.320-31C>T)
c.449-31C>T (n.449-31C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.27173193_27173194delCA2783315783TEKc.761-29_761-28del (n.761-29_761-28del)
c.320-29_320-28del (n.320-29_320-28del)
c.449-29_449-28del (n.449-29_449-28del)
9g.27173192T>CCA5016013TEKc.761-30T>C (n.761-30T>C)
c.320-30T>C (n.320-30T>C)
c.449-30T>C (n.449-30T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27173192T=CA1842021563TEKc.761-30T= (n.761-30T=)
c.320-30T= (n.320-30T=)
c.449-30T= (n.449-30T=)
9g.27173193C>TCA2689641465TEKc.761-29C>T (n.761-29C>T)
c.320-29C>T (n.320-29C>T)
c.449-29C>T (n.449-29C>T)
 gnomAD v4
9g.27173195G>CCA652725126TEKc.761-27G>C (n.761-27G>C)
c.320-27G>C (n.320-27G>C)
c.449-27G>C (n.449-27G>C)
 COSMIC
9g.27173197A=CA1842021567TEKc.761-25A= (n.761-25A=)
c.320-25A= (n.320-25A=)
c.449-25A= (n.449-25A=)
9g.27173197A>CCA5016014TEKc.761-25A>C (n.761-25A>C)
c.320-25A>C (n.320-25A>C)
c.449-25A>C (n.449-25A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.27173197A>GCA191326020TEKc.761-25A>G (n.761-25A>G)
c.320-25A>G (n.320-25A>G)
c.449-25A>G (n.449-25A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.27173197A>TCA5016015TEKc.761-25A>T (n.761-25A>T)
c.320-25A>T (n.320-25A>T)
c.449-25A>T (n.449-25A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.27173200A=CA1842021574TEKc.761-22A= (n.761-22A=)
c.320-22A= (n.320-22A=)
c.449-22A= (n.449-22A=)
9g.27173200A>GCA587124042TEKc.761-22A>G (n.761-22A>G)
c.320-22A>G (n.320-22A>G)
c.449-22A>G (n.449-22A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.27173200_27173205delinsATCTTTCA1842021573TEKc.761-22_761-17delinsATCTTT (n.761-22_761-17delinsATCTTT)
c.320-22_320-17delinsATCTTT (n.320-22_320-17delinsATCTTT)
c.449-22_449-17delinsATCTTT (n.449-22_449-17delinsATCTTT)
9g.27173208_27173212delCA587124044TEKc.761-14_761-10del (n.761-14_761-10del)
c.320-14_320-10del (n.320-14_320-10del)
c.449-14_449-10del (n.449-14_449-10del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.27173203T>CCA2689641466TEKc.761-19T>C (n.761-19T>C)
c.320-19T>C (n.320-19T>C)
c.449-19T>C (n.449-19T>C)
 gnomAD v4
9g.27173205T>GCA2689641468TEKc.761-17T>G (n.761-17T>G)
c.320-17T>G (n.320-17T>G)
c.449-17T>G (n.449-17T>G)
 gnomAD v4
9g.27173207_27173209delCA2689641467TEKc.761-15_761-13del (n.761-15_761-13del)
c.320-15_320-13del (n.320-15_320-13del)
c.449-15_449-13del (n.449-15_449-13del)
 gnomAD v4
9g.27173206T>GCA2689641469TEKc.761-16T>G (n.761-16T>G)
c.320-16T>G (n.320-16T>G)
c.449-16T>G (n.449-16T>G)
 gnomAD v4
9g.27173207C>ACA2579318896TEKc.761-15C>A (n.761-15C>A)
c.320-15C>A (n.320-15C>A)
c.449-15C>A (n.449-15C>A)
 gnomAD v4
9g.27173208T>CCA2579318897TEKc.761-14T>C (n.761-14T>C)
c.320-14T>C (n.320-14T>C)
c.449-14T>C (n.449-14T>C)
9g.27173209T>ACA2783315785TEKc.761-13T>A (n.761-13T>A)
c.320-13T>A (n.320-13T>A)
c.449-13T>A (n.449-13T>A)
9g.27173209T>CCA5016016TEKc.761-13T>C (n.761-13T>C)
c.320-13T>C (n.320-13T>C)
c.449-13T>C (n.449-13T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27173209T=CA1842021582TEKc.761-13T= (n.761-13T=)
c.320-13T= (n.320-13T=)
c.449-13T= (n.449-13T=)
9g.27173212C=CA1842021584TEKc.761-10C= (n.761-10C=)
c.320-10C= (n.320-10C=)
c.449-10C= (n.449-10C=)
9g.27173212C>TCA587124047TEKc.761-10C>T (n.761-10C>T)
c.320-10C>T (n.320-10C>T)
c.449-10C>T (n.449-10C>T)
 dbSNP gnomAD v2
9g.27173213C=CA1842021586TEKc.761-9C= (n.761-9C=)
c.320-9C= (n.320-9C=)
c.449-9C= (n.449-9C=)
9g.27173213C>GCA587124050TEKc.761-9C>G (n.761-9C>G)
c.320-9C>G (n.320-9C>G)
c.449-9C>G (n.449-9C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.27173213C>TCA5016017TEKc.761-9C>T (n.761-9C>T)
c.320-9C>T (n.320-9C>T)
c.449-9C>T (n.449-9C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27173214T>CCA191326031TEKc.761-8T>C (n.761-8T>C)
c.320-8T>C (n.320-8T>C)
c.449-8T>C (n.449-8T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.27173214T=CA1842021590TEKc.761-8T= (n.761-8T=)
c.320-8T= (n.320-8T=)
c.449-8T= (n.449-8T=)
9g.27173215_27173218delCA2689641470TEKc.761-7_761-4del (n.761-7_761-4del)
c.320-7_320-4del (n.320-7_320-4del)
c.449-7_449-4del (n.449-7_449-4del)
 gnomAD v4
9g.27173219A>TCA2510873988TEKc.761-3A>T (n.761-3A>T)
c.320-3A>T (n.320-3A>T)
c.449-3A>T (n.449-3A>T)
9g.27173220A>CCA373124953TEKc.761-2A>C (n.761-2A>C)
c.320-2A>C (n.320-2A>C)
c.449-2A>C (n.449-2A>C)
9g.27173220A>GCA373124942TEKc.761-2A>G (n.761-2A>G)
c.320-2A>G (n.320-2A>G)
c.449-2A>G (n.449-2A>G)
 gnomAD v4
9g.27173220A>TCA373124944TEKc.761-2A>T (n.761-2A>T)
c.320-2A>T (n.320-2A>T)
c.449-2A>T (n.449-2A>T)
9g.27173220_27173221insCTCA2689641471TEKc.761-2_761-1insCT (n.761-2_761-1insCT)
c.320-2_320-1insCT (n.320-2_320-1insCT)
c.449-2_449-1insCT (n.449-2_449-1insCT)
 gnomAD v4
9g.27173221G>ACA373124958TEKc.761-1G>A (n.761-1G>A)
c.320-1G>A (n.320-1G>A)
c.449-1G>A (n.449-1G>A)
9g.27173221G>CCA373124962TEKc.761-1G>C (n.761-1G>C)
c.320-1G>C (n.320-1G>C)
c.449-1G>C (n.449-1G>C)
9g.27173221G>TCA373124965TEKc.761-1G>T (n.761-1G>T)
c.320-1G>T (n.320-1G>T)
c.449-1G>T (n.449-1G>T)
9g.27173222C>ACA373124968TEKc.761C>A (p.Ala254Asp)
c.320C>A (p.Ala107Asp)
c.449C>A (p.Ala150Asp)
9g.27173222C>GCA373124972TEKc.761C>G (p.Ala254Gly)
c.320C>G (p.Ala107Gly)
c.449C>G (p.Ala150Gly)
9g.27173222C>TCA373124974TEKc.761C>T (p.Ala254Val)
c.320C>T (p.Ala107Val)
c.449C>T (p.Ala150Val)
9g.27173223T>ACA464168605TEKc.762T>A (p.Ala254=)
c.321T>A (p.Ala107=)
c.450T>A (p.Ala150=)
9g.27173223T>CCA464168606TEKc.762T>C (p.Ala254=)
c.321T>C (p.Ala107=)
c.450T>C (p.Ala150=)
 gnomAD v4
9g.27173223T>GCA464168608TEKc.762T>G (p.Ala254=)
c.321T>G (p.Ala107=)
c.450T>G (p.Ala150=)
9g.27173224T>ACA373124980TEKc.763T>A (p.Cys255Ser)
c.322T>A (p.Cys108Ser)
c.451T>A (p.Cys151Ser)
9g.27173224T>CCA373124982TEKc.763T>C (p.Cys255Arg)
c.322T>C (p.Cys108Arg)
c.451T>C (p.Cys151Arg)
9g.27173224T>GCA373124984TEKc.763T>G (p.Cys255Gly)
c.322T>G (p.Cys108Gly)
c.451T>G (p.Cys151Gly)
9g.27173225G>ACA373125002TEKc.764G>A (p.Cys255Tyr)
c.323G>A (p.Cys108Tyr)
c.452G>A (p.Cys151Tyr)
 gnomAD v4
9g.27173225G>CCA373125007TEKc.764G>C (p.Cys255Ser)
c.323G>C (p.Cys108Ser)
c.452G>C (p.Cys151Ser)
9g.27173225G>TCA373125009TEKc.764G>T (p.Cys255Phe)
c.323G>T (p.Cys108Phe)
c.452G>T (p.Cys151Phe)
 COSMIC COSMIC
9g.27173226T>ACA373125013TEKc.765T>A (p.Cys255Ter)
c.324T>A (p.Cys108Ter)
c.453T>A (p.Cys151Ter)
9g.27173226T>CCA464168613TEKc.765T>C (p.Cys255=)
c.324T>C (p.Cys108=)
c.453T>C (p.Cys151=)
 gnomAD v4
9g.27173226T>GCA373125011TEKc.765T>G (p.Cys255Trp)
c.324T>G (p.Cys108Trp)
c.453T>G (p.Cys151Trp)
9g.27173227G>ACA373125017TEKc.766G>A (p.Glu256Lys)
c.325G>A (p.Glu109Lys)
c.454G>A (p.Glu152Lys)
 gnomAD v4
9g.27173227G>CCA373125021TEKc.766G>C (p.Glu256Gln)
c.325G>C (p.Glu109Gln)
c.454G>C (p.Glu152Gln)
9g.27173227G>TCA373125018TEKc.766G>T (p.Glu256Ter)
c.325G>T (p.Glu109Ter)
c.454G>T (p.Glu152Ter)
9g.27173228A>CCA373125026TEKc.767A>C (p.Glu256Ala)
c.326A>C (p.Glu109Ala)
c.455A>C (p.Glu152Ala)
9g.27173228A>GCA373125029TEKc.767A>G (p.Glu256Gly)
c.326A>G (p.Glu109Gly)
c.455A>G (p.Glu152Gly)
9g.27173228A>TCA373125035TEKc.767A>T (p.Glu256Val)
c.326A>T (p.Glu109Val)
c.455A>T (p.Glu152Val)
9g.27173229A=CA1842021595TEKc.768A= (p.Glu256=)
c.327A= (p.Glu109=)
c.456A= (p.Glu152=)
9g.27173229A>CCA373125039TEKc.768A>C (p.Glu256Asp)
c.327A>C (p.Glu109Asp)
c.456A>C (p.Glu152Asp)
9g.27173229A>GCA464168616TEKc.768A>G (p.Glu256=)
c.327A>G (p.Glu109=)
c.456A>G (p.Glu152=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.27173229A>TCA373125042TEKc.768A>T (p.Glu256Asp)
c.327A>T (p.Glu109Asp)
c.456A>T (p.Glu152Asp)
 dbSNP gnomAD v2 gnomAD v4
9g.27173230C>ACA373125045TEKc.769C>A (p.Leu257Met)
c.328C>A (p.Leu110Met)
c.457C>A (p.Leu153Met)
9g.27173230C=CA1842021601TEKc.769C= (p.Leu257=)
c.328C= (p.Leu110=)
c.457C= (p.Leu153=)
9g.27173230C>GCA373125057TEKc.769C>G (p.Leu257Val)
c.328C>G (p.Leu110Val)
c.457C>G (p.Leu153Val)
 gnomAD v4
9g.27173230C>TCA464168618TEKc.769C>T (p.Leu257=)
c.328C>T (p.Leu110=)
c.457C>T (p.Leu153=)
 dbSNP gnomAD v2
9g.27173231T>ACA373125061TEKc.770T>A (p.Leu257Gln)
c.329T>A (p.Leu110Gln)
c.458T>A (p.Leu153Gln)
9g.27173231T>CCA373125062TEKc.770T>C (p.Leu257Pro)
c.329T>C (p.Leu110Pro)
c.458T>C (p.Leu153Pro)
9g.27173231T>GCA373125063TEKc.770T>G (p.Leu257Arg)
c.329T>G (p.Leu110Arg)
c.458T>G (p.Leu153Arg)
9g.27173232G>ACA5016018TEKc.771G>A (p.Leu257=)
c.330G>A (p.Leu110=)
c.459G>A (p.Leu153=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27173232G>CCA464168620TEKc.771G>C (p.Leu257=)
c.330G>C (p.Leu110=)
c.459G>C (p.Leu153=)
9g.27173232G=CA1842021605TEKc.771G= (p.Leu257=)
c.330G= (p.Leu110=)
c.459G= (p.Leu153=)
9g.27173232G>TCA464168619TEKc.771G>T (p.Leu257=)
c.330G>T (p.Leu110=)
c.459G>T (p.Leu153=)
9g.27173233C>ACA373125068TEKc.772C>A (p.His258Asn)
c.331C>A (p.His111Asn)
c.460C>A (p.His154Asn)
9g.27173233C>GCA373125067TEKc.772C>G (p.His258Asp)
c.331C>G (p.His111Asp)
c.460C>G (p.His154Asp)
9g.27173233C>TCA373125066TEKc.772C>T (p.His258Tyr)
c.331C>T (p.His111Tyr)
c.460C>T (p.His154Tyr)
9g.27173234A>CCA373125070TEKc.773A>C (p.His258Pro)
c.332A>C (p.His111Pro)
c.461A>C (p.His154Pro)
9g.27173234A>GCA373125072TEKc.773A>G (p.His258Arg)
c.332A>G (p.His111Arg)
c.461A>G (p.His154Arg)
 gnomAD v4
9g.27173234A>TCA373125074TEKc.773A>T (p.His258Leu)
c.332A>T (p.His111Leu)
c.461A>T (p.His154Leu)
9g.27173235C>ACA373125077TEKc.774C>A (p.His258Gln)
c.333C>A (p.His111Gln)
c.462C>A (p.His154Gln)
9g.27173235C>GCA373125082TEKc.774C>G (p.His258Gln)
c.333C>G (p.His111Gln)
c.462C>G (p.His154Gln)
9g.27173235C>TCA464168624TEKc.774C>T (p.His258=)
c.333C>T (p.His111=)
c.462C>T (p.His154=)
9g.27173236A>CCA373125087TEKc.775A>C (p.Thr259Pro)
c.334A>C (p.Thr112Pro)
c.463A>C (p.Thr155Pro)
9g.27173236A>GCA373125093TEKc.775A>G (p.Thr259Ala)
c.334A>G (p.Thr112Ala)
c.463A>G (p.Thr155Ala)
9g.27173236A>TCA373125097TEKc.775A>T (p.Thr259Ser)
c.334A>T (p.Thr112Ser)
c.463A>T (p.Thr155Ser)
9g.27173237C>ACA373125101TEKc.776C>A (p.Thr259Lys)
c.335C>A (p.Thr112Lys)
c.464C>A (p.Thr155Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.27173237C=CA1842021612TEKc.776C= (p.Thr259=)
c.335C= (p.Thr112=)
c.464C= (p.Thr155=)
9g.27173237C>GCA373125104TEKc.776C>G (p.Thr259Arg)
c.335C>G (p.Thr112Arg)
c.464C>G (p.Thr155Arg)
9g.27173237C>TCA5016019TEKc.776C>T (p.Thr259Met)
c.335C>T (p.Thr112Met)
c.464C>T (p.Thr155Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.27173238G>ACA5016020TEKc.777G>A (p.Thr259=)
c.336G>A (p.Thr112=)
c.465G>A (p.Thr155=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.27173238G>CCA464168628TEKc.777G>C (p.Thr259=)
c.336G>C (p.Thr112=)
c.465G>C (p.Thr155=)
9g.27173238G=CA1842021621TEKc.777G= (p.Thr259=)
c.336G= (p.Thr112=)
c.465G= (p.Thr155=)
9g.27173238G>TCA464168629TEKc.777G>T (p.Thr259=)
c.336G>T (p.Thr112=)
c.465G>T (p.Thr155=)
 gnomAD v4
9g.27173239T>ACA373125122TEKc.778T>A (p.Phe260Ile)
c.337T>A (p.Phe113Ile)
c.466T>A (p.Phe156Ile)
9g.27173239T>CCA373125119TEKc.778T>C (p.Phe260Leu)
c.337T>C (p.Phe113Leu)
c.466T>C (p.Phe156Leu)
9g.27173239T>GCA373125112TEKc.778T>G (p.Phe260Val)
c.337T>G (p.Phe113Val)
c.466T>G (p.Phe156Val)
9g.27173240T>ACA373125125TEKc.779T>A (p.Phe260Tyr)
c.338T>A (p.Phe113Tyr)
c.467T>A (p.Phe156Tyr)
9g.27173240T>CCA373125128TEKc.779T>C (p.Phe260Ser)
c.338T>C (p.Phe113Ser)
c.467T>C (p.Phe156Ser)
9g.27173240T>GCA373125129TEKc.779T>G (p.Phe260Cys)
c.338T>G (p.Phe113Cys)
c.467T>G (p.Phe156Cys)
9g.27173241T>ACA373125130TEKc.780T>A (p.Phe260Leu)
c.339T>A (p.Phe113Leu)
c.468T>A (p.Phe156Leu)
9g.27173241T>CCA464168631TEKc.780T>C (p.Phe260=)
c.339T>C (p.Phe113=)
c.468T>C (p.Phe156=)
9g.27173241T>GCA373125133TEKc.780T>G (p.Phe260Leu)
c.339T>G (p.Phe113Leu)
c.468T>G (p.Phe156Leu)
9g.27173242G>ACA373125143TEKc.781G>A (p.Gly261Ser)
c.340G>A (p.Gly114Ser)
c.469G>A (p.Gly157Ser)
9g.27173242G>CCA373125141TEKc.781G>C (p.Gly261Arg)
c.340G>C (p.Gly114Arg)
c.469G>C (p.Gly157Arg)
9g.27173242G>TCA373125138TEKc.781G>T (p.Gly261Cys)
c.340G>T (p.Gly114Cys)
c.469G>T (p.Gly157Cys)
9g.27173243G>ACA373125147TEKc.782G>A (p.Gly261Asp)
c.341G>A (p.Gly114Asp)
c.470G>A (p.Gly157Asp)
 gnomAD v4
9g.27173243G>CCA373125150TEKc.782G>C (p.Gly261Ala)
c.341G>C (p.Gly114Ala)
c.470G>C (p.Gly157Ala)
9g.27173243G>TCA373125153TEKc.782G>T (p.Gly261Val)
c.341G>T (p.Gly114Val)
c.470G>T (p.Gly157Val)
9g.27173244C>ACA464168634TEKc.783C>A (p.Gly261=)
c.342C>A (p.Gly114=)
c.471C>A (p.Gly157=)
9g.27173244C=CA1842021625TEKc.783C= (p.Gly261=)
c.342C= (p.Gly114=)
c.471C= (p.Gly157=)
9g.27173244C>GCA464168635TEKc.783C>G (p.Gly261=)
c.342C>G (p.Gly114=)
c.471C>G (p.Gly157=)
9g.27173244C>TCA5016021TEKc.783C>T (p.Gly261=)
c.342C>T (p.Gly114=)
c.471C>T (p.Gly157=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.27173245A>CCA464168636TEKc.784A>C (p.Arg262=)
c.343A>C (p.Arg115=)
c.472A>C (p.Arg158=)
9g.27173245A>GCA373125159TEKc.784A>G (p.Arg262Gly)
c.343A>G (p.Arg115Gly)
c.472A>G (p.Arg158Gly)
9g.27173245A>TCA373125161TEKc.784A>T (p.Arg262Ter)
c.343A>T (p.Arg115Ter)
c.472A>T (p.Arg158Ter)
9g.27173246G>ACA373125165TEKc.785G>A (p.Arg262Lys)
c.344G>A (p.Arg115Lys)
c.473G>A (p.Arg158Lys)
9g.27173246G>CCA373125171TEKc.785G>C (p.Arg262Thr)
c.344G>C (p.Arg115Thr)
c.473G>C (p.Arg158Thr)
9g.27173246G>TCA373125168TEKc.785G>T (p.Arg262Ile)
c.344G>T (p.Arg115Ile)
c.473G>T (p.Arg158Ile)
9g.27173247A>CCA373125177TEKc.786A>C (p.Arg262Ser)
c.345A>C (p.Arg115Ser)
c.474A>C (p.Arg158Ser)
9g.27173247A>GCA464168639TEKc.786A>G (p.Arg262=)
c.345A>G (p.Arg115=)
c.474A>G (p.Arg158=)
9g.27173247A>TCA373125179TEKc.786A>T (p.Arg262Ser)
c.345A>T (p.Arg115Ser)
c.474A>T (p.Arg158Ser)
9g.27173248A=CA1842021629TEKc.787A= (p.Thr263=)
c.346A= (p.Thr116=)
c.475A= (p.Thr159=)
9g.27173248A>CCA373125183TEKc.787A>C (p.Thr263Pro)
c.346A>C (p.Thr116Pro)
c.475A>C (p.Thr159Pro)
9g.27173248A>GCA5016022TEKc.787A>G (p.Thr263Ala)
c.346A>G (p.Thr116Ala)
c.475A>G (p.Thr159Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.27173248A>TCA373125187TEKc.787A>T (p.Thr263Ser)
c.346A>T (p.Thr116Ser)
c.475A>T (p.Thr159Ser)

Number of alleles fetched