Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.121160071T>CCA2616489212TBCEL-TECTA,TECTAc.4690-64T>C (n.4690-64T>C)
c.1997-64T>C
n.626-64T>C
c.5647-64T>C (n.5647-64T>C)
 gnomAD v4
11g.121160076A>GCA2575008525TBCEL-TECTA,TECTAc.4690-59A>G (n.4690-59A>G)
c.1997-59A>G
n.626-59A>G
c.5647-59A>G (n.5647-59A>G)
 gnomAD v4
11g.121160077A>GCA2616489213TBCEL-TECTA,TECTAc.4690-58A>G (n.4690-58A>G)
c.1997-58A>G
n.626-58A>G
c.5647-58A>G (n.5647-58A>G)
 gnomAD v4
11g.121160078C>ACA229845873TBCEL-TECTA,TECTAc.4690-57C>A (n.4690-57C>A)
c.1997-57C>A
n.626-57C>A
c.5647-57C>A (n.5647-57C>A)
 dbSNP
11g.121160078C=CA2004739042TBCEL-TECTA,TECTAc.4690-57C= (n.4690-57C=)
c.1997-57C=
n.626-57C=
c.5647-57C= (n.5647-57C=)
11g.121160078C>GCA672616858TBCEL-TECTA,TECTAc.4690-57C>G (n.4690-57C>G)
c.1997-57C>G
n.626-57C>G
c.5647-57C>G (n.5647-57C>G)
 dbSNP gnomAD v3 gnomAD v4
11g.121160080A=CA2004739044TBCEL-TECTA,TECTAc.4690-55A= (n.4690-55A=)
c.1997-55A=
n.626-55A=
c.5647-55A= (n.5647-55A=)
11g.121160080A>GCA672616865TBCEL-TECTA,TECTAc.4690-55A>G (n.4690-55A>G)
c.1997-55A>G
n.626-55A>G
c.5647-55A>G (n.5647-55A>G)
 dbSNP gnomAD v3 gnomAD v4
11g.121160080A>TCA229845890TBCEL-TECTA,TECTAc.4690-55A>T (n.4690-55A>T)
c.1997-55A>T
n.626-55A>T
c.5647-55A>T (n.5647-55A>T)
 dbSNP
11g.121160081G>ACA2004739046TBCEL-TECTA,TECTAc.4690-54G>A (n.4690-54G>A)
c.1997-54G>A
n.626-54G>A
c.5647-54G>A (n.5647-54G>A)
 dbSNP gnomAD v4
11g.121160081G=CA2004739047TBCEL-TECTA,TECTAc.4690-54G= (n.4690-54G=)
c.1997-54G=
n.626-54G=
c.5647-54G= (n.5647-54G=)
11g.121160081G>TCA2616489218TBCEL-TECTA,TECTAc.4690-54G>T (n.4690-54G>T)
c.1997-54G>T
n.626-54G>T
c.5647-54G>T (n.5647-54G>T)
 gnomAD v4
11g.121160082T>ACA2616489220TBCEL-TECTA,TECTAc.4690-53T>A (n.4690-53T>A)
c.1997-53T>A
n.626-53T>A
c.5647-53T>A (n.5647-53T>A)
 gnomAD v4
11g.121160085G>ACA672616869TBCEL-TECTA,TECTAc.4690-50G>A (n.4690-50G>A)
c.1997-50G>A
n.626-50G>A
c.5647-50G>A (n.5647-50G>A)
 dbSNP gnomAD v3 gnomAD v4
11g.121160085G=CA2004739049TBCEL-TECTA,TECTAc.4690-50G= (n.4690-50G=)
c.1997-50G=
n.626-50G=
c.5647-50G= (n.5647-50G=)
11g.121160085G>TCA2616489223TBCEL-TECTA,TECTAc.4690-50G>T (n.4690-50G>T)
c.1997-50G>T
n.626-50G>T
c.5647-50G>T (n.5647-50G>T)
 gnomAD v4
11g.121160086C>ACA2575008526TBCEL-TECTA,TECTAc.4690-49C>A (n.4690-49C>A)
c.1997-49C>A
n.626-49C>A
c.5647-49C>A (n.5647-49C>A)
11g.121160086C=CA2004739050TBCEL-TECTA,TECTAc.4690-49C= (n.4690-49C=)
c.1997-49C=
n.626-49C=
c.5647-49C= (n.5647-49C=)
11g.121160086C>TCA602580296TBCEL-TECTA,TECTAc.4690-49C>T (n.4690-49C>T)
c.1997-49C>T
n.626-49C>T
c.5647-49C>T (n.5647-49C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.121160087C>TCA2616489226TBCEL-TECTA,TECTAc.4690-48C>T (n.4690-48C>T)
c.1997-48C>T
n.626-48C>T
c.5647-48C>T (n.5647-48C>T)
 gnomAD v4
11g.121160088A=CA2004739051TBCEL-TECTA,TECTAc.4690-47A= (n.4690-47A=)
c.1997-47A=
n.626-47A=
c.5647-47A= (n.5647-47A=)
11g.121160088A>CCA2616489231TBCEL-TECTA,TECTAc.4690-47A>C (n.4690-47A>C)
c.1997-47A>C
n.626-47A>C
c.5647-47A>C (n.5647-47A>C)
 gnomAD v4
11g.121160088A>GCA6327534TBCEL-TECTA,TECTAc.4690-47A>G (n.4690-47A>G)
c.1997-47A>G
n.626-47A>G
c.5647-47A>G (n.5647-47A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121160089A=CA2004739052TBCEL-TECTA,TECTAc.4690-46A= (n.4690-46A=)
c.1997-46A=
n.626-46A=
c.5647-46A= (n.5647-46A=)
11g.121160089A>GCA2004739054TBCEL-TECTA,TECTAc.4690-46A>G (n.4690-46A>G)
c.1997-46A>G
n.626-46A>G
c.5647-46A>G (n.5647-46A>G)
 dbSNP
11g.121160090C=CA2004739055TBCEL-TECTA,TECTAc.4690-45C= (n.4690-45C=)
c.1997-45C=
n.626-45C=
c.5647-45C= (n.5647-45C=)
11g.121160090C>TCA2004739056TBCEL-TECTA,TECTAc.4690-45C>T (n.4690-45C>T)
c.1997-45C>T
n.626-45C>T
c.5647-45C>T (n.5647-45C>T)
 dbSNP gnomAD v4
11g.121160092C>ACA6327535TBCEL-TECTA,TECTAc.4690-43C>A (n.4690-43C>A)
c.1997-43C>A
n.626-43C>A
c.5647-43C>A (n.5647-43C>A)
 dbSNP ExAC gnomAD v2
11g.121160092C=CA2004739059TBCEL-TECTA,TECTAc.4690-43C= (n.4690-43C=)
c.1997-43C=
n.626-43C=
c.5647-43C= (n.5647-43C=)
11g.121160092C>GCA602580297TBCEL-TECTA,TECTAc.4690-43C>G (n.4690-43C>G)
c.1997-43C>G
n.626-43C>G
c.5647-43C>G (n.5647-43C>G)
 dbSNP gnomAD v2 gnomAD v4
11g.121160092C>TCA2616489234TBCEL-TECTA,TECTAc.4690-43C>T (n.4690-43C>T)
c.1997-43C>T
n.626-43C>T
c.5647-43C>T (n.5647-43C>T)
 gnomAD v4
11g.121160094T>CCA2575008527TBCEL-TECTA,TECTAc.4690-41T>C (n.4690-41T>C)
c.1997-41T>C
n.626-41T>C
c.5647-41T>C (n.5647-41T>C)
11g.121160095A>TCA2793889333TBCEL-TECTA,TECTAc.4690-40A>T (n.4690-40A>T)
c.1997-40A>T
n.626-40A>T
c.5647-40A>T (n.5647-40A>T)
11g.121160095_121160096delCA2616489236TBCEL-TECTA,TECTAc.4690-40_4690-39del (n.4690-40_4690-39del)
c.1997-40_1997-39del
n.626-40_626-39del
c.5647-40_5647-39del (n.5647-40_5647-39del)
 gnomAD v4
11g.121160097T>CCA2616489237TBCEL-TECTA,TECTAc.4690-38T>C (n.4690-38T>C)
c.1997-38T>C
n.626-38T>C
c.5647-38T>C (n.5647-38T>C)
 dbSNP gnomAD v4
11g.121160097T>GCA6327536TBCEL-TECTA,TECTAc.4690-38T>G (n.4690-38T>G)
c.1997-38T>G
n.626-38T>G
c.5647-38T>G (n.5647-38T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121160097T=CA2004739060TBCEL-TECTA,TECTAc.4690-38T= (n.4690-38T=)
c.1997-38T=
n.626-38T=
c.5647-38T= (n.5647-38T=)
11g.121160097_121160098insTGCA229845901TBCEL-TECTA,TECTAc.4690-38_4690-37insTG (n.4690-38_4690-37insTG)
c.1997-38_1997-37insTG
n.626-38_626-37insTG
c.5647-38_5647-37insTG (n.5647-38_5647-37insTG)
 dbSNP
11g.121160097_121160098insGTTGCA2616489239TBCEL-TECTA,TECTAc.4690-38_4690-37insGTTG (n.4690-38_4690-37insGTTG)
c.1997-38_1997-37insGTTG
n.626-38_626-37insGTTG
c.5647-38_5647-37insGTTG (n.5647-38_5647-37insGTTG)
 gnomAD v4
11g.121160098C>GCA2575008528TBCEL-TECTA,TECTAc.4690-37C>G (n.4690-37C>G)
c.1997-37C>G
n.626-37C>G
c.5647-37C>G (n.5647-37C>G)
11g.121160099T>CCA2616489240TBCEL-TECTA,TECTAc.4690-36T>C (n.4690-36T>C)
c.1997-36T>C
n.626-36T>C
c.5647-36T>C (n.5647-36T>C)
 gnomAD v4
11g.121160100A>GCA2616489242TBCEL-TECTA,TECTAc.4690-35A>G (n.4690-35A>G)
c.1997-35A>G
n.626-35A>G
c.5647-35A>G (n.5647-35A>G)
 gnomAD v4
11g.121160101_121160102delinsAGCA2004739063TBCEL-TECTA,TECTAc.4690-34_4690-33delinsAG (n.4690-34_4690-33delinsAG)
c.1997-34_1997-33delinsAG
n.626-34_626-33delinsAG
c.5647-34_5647-33delinsAG (n.5647-34_5647-33delinsAG)
11g.121160102delCA6327537TBCEL-TECTA,TECTAc.4690-33del (n.4690-33del)
c.1997-33del
n.626-33del
c.5647-33del (n.5647-33del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121160102_121160105delCA2575008529TBCEL-TECTA,TECTAc.4690-33_4690-30del (n.4690-33_4690-30del)
c.1997-33_1997-30del
n.626-33_626-30del
c.5647-33_5647-30del (n.5647-33_5647-30del)
11g.121160103C>ACA2616489244TBCEL-TECTA,TECTAc.4690-32C>A (n.4690-32C>A)
c.1997-32C>A
n.626-32C>A
c.5647-32C>A (n.5647-32C>A)
 gnomAD v4
11g.121160103C=CA2004739065TBCEL-TECTA,TECTAc.4690-32C= (n.4690-32C=)
c.1997-32C=
n.626-32C=
c.5647-32C= (n.5647-32C=)
11g.121160103C>TCA6327538TBCEL-TECTA,TECTAc.4690-32C>T (n.4690-32C>T)
c.1997-32C>T
n.626-32C>T
c.5647-32C>T (n.5647-32C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121160104G>ACA6327540TBCEL-TECTA,TECTAc.4690-31G>A (n.4690-31G>A)
c.1997-31G>A
n.626-31G>A
c.5647-31G>A (n.5647-31G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121160104G>CCA6327539TBCEL-TECTA,TECTAc.4690-31G>C (n.4690-31G>C)
c.1997-31G>C
n.626-31G>C
c.5647-31G>C (n.5647-31G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121160104G=CA2004739070TBCEL-TECTA,TECTAc.4690-31G= (n.4690-31G=)
c.1997-31G=
n.626-31G=
c.5647-31G= (n.5647-31G=)
11g.121160104G>TCA2616489247TBCEL-TECTA,TECTAc.4690-31G>T (n.4690-31G>T)
c.1997-31G>T
n.626-31G>T
c.5647-31G>T (n.5647-31G>T)
 gnomAD v4
11g.121160105T=CA2004739073TBCEL-TECTA,TECTAc.4690-30T= (n.4690-30T=)
c.1997-30T=
n.626-30T=
c.5647-30T= (n.5647-30T=)
11g.121160106_121160107insCTCTAAACA6327541TBCEL-TECTA,TECTAc.4690-29_4690-28insCTCTAAA (n.4690-29_4690-28insCTCTAAA)
c.1997-29_1997-28insCTCTAAA
n.626-29_626-28insCTCTAAA
c.5647-29_5647-28insCTCTAAA (n.5647-29_5647-28insCTCTAAA)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121160107A=CA2004739076TBCEL-TECTA,TECTAc.4690-28A= (n.4690-28A=)
c.1997-28A=
n.626-28A=
c.5647-28A= (n.5647-28A=)
11g.121160107A>GCA6327542TBCEL-TECTA,TECTAc.4690-28A>G (n.4690-28A>G)
c.1997-28A>G
n.626-28A>G
c.5647-28A>G (n.5647-28A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121160111T>CCA2528624081TBCEL-TECTA,TECTAc.4690-24T>C (n.4690-24T>C)
c.1997-24T>C
n.626-24T>C
c.5647-24T>C (n.5647-24T>C)
 gnomAD v4
11g.121160112T>ACA6327543TBCEL-TECTA,TECTAc.4690-23T>A (n.4690-23T>A)
c.1997-23T>A
n.626-23T>A
c.5647-23T>A (n.5647-23T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121160112T=CA2004739081TBCEL-TECTA,TECTAc.4690-23T= (n.4690-23T=)
c.1997-23T=
n.626-23T=
c.5647-23T= (n.5647-23T=)
11g.121160115C>ACA6327544TBCEL-TECTA,TECTAc.4690-20C>A (n.4690-20C>A)
c.1997-20C>A
n.626-20C>A
c.5647-20C>A (n.5647-20C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121160115C=CA2004739083TBCEL-TECTA,TECTAc.4690-20C= (n.4690-20C=)
c.1997-20C=
n.626-20C=
c.5647-20C= (n.5647-20C=)
11g.121160115C>GCA2616489256TBCEL-TECTA,TECTAc.4690-20C>G (n.4690-20C>G)
c.1997-20C>G
n.626-20C>G
c.5647-20C>G (n.5647-20C>G)
 gnomAD v4
11g.121160117T>ACA2004739086TBCEL-TECTA,TECTAc.4690-18T>A (n.4690-18T>A)
c.1997-18T>A
n.626-18T>A
c.5647-18T>A (n.5647-18T>A)
 dbSNP gnomAD v4
11g.121160117T>CCA6327545TBCEL-TECTA,TECTAc.4690-18T>C (n.4690-18T>C)
c.1997-18T>C
n.626-18T>C
c.5647-18T>C (n.5647-18T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121160117T=CA2004739085TBCEL-TECTA,TECTAc.4690-18T= (n.4690-18T=)
c.1997-18T=
n.626-18T=
c.5647-18T= (n.5647-18T=)
11g.121160119T>CCA2004739089TBCEL-TECTA,TECTAc.4690-16T>C (n.4690-16T>C)
c.1997-16T>C
n.626-16T>C
c.5647-16T>C (n.5647-16T>C)
 dbSNP
11g.121160119T=CA2004739088TBCEL-TECTA,TECTAc.4690-16T= (n.4690-16T=)
c.1997-16T=
n.626-16T=
c.5647-16T= (n.5647-16T=)
11g.121160120T>CCA184939TBCEL-TECTA,TECTAc.4690-15T>C (n.4690-15T>C)
c.1997-15T>C
n.626-15T>C
c.5647-15T>C (n.5647-15T>C)
 ClinVar dbSNP
11g.121160120T=CA2004739092TBCEL-TECTA,TECTAc.4690-15T= (n.4690-15T=)
c.1997-15T=
n.626-15T=
c.5647-15T= (n.5647-15T=)
11g.121160121T>ACA2616489262TBCEL-TECTA,TECTAc.4690-14T>A (n.4690-14T>A)
c.1997-14T>A
n.626-14T>A
c.5647-14T>A (n.5647-14T>A)
 gnomAD v4
11g.121160122C>ACA6327546TBCEL-TECTA,TECTAc.4690-13C>A (n.4690-13C>A)
c.1997-13C>A
n.626-13C>A
c.5647-13C>A (n.5647-13C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121160122C=CA2004739096TBCEL-TECTA,TECTAc.4690-13C= (n.4690-13C=)
c.1997-13C=
n.626-13C=
c.5647-13C= (n.5647-13C=)
11g.121160122C>TCA2616489264TBCEL-TECTA,TECTAc.4690-13C>T (n.4690-13C>T)
c.1997-13C>T
n.626-13C>T
c.5647-13C>T (n.5647-13C>T)
 gnomAD v4
11g.121160123C=CA2004739100TBCEL-TECTA,TECTAc.4690-12C= (n.4690-12C=)
c.1997-12C=
n.626-12C=
c.5647-12C= (n.5647-12C=)
11g.121160123C>GCA2616489266TBCEL-TECTA,TECTAc.4690-12C>G (n.4690-12C>G)
c.1997-12C>G
n.626-12C>G
c.5647-12C>G (n.5647-12C>G)
 gnomAD v4
11g.121160123C>TCA229845996TBCEL-TECTA,TECTAc.4690-12C>T (n.4690-12C>T)
c.1997-12C>T
n.626-12C>T
c.5647-12C>T (n.5647-12C>T)
 ClinVar dbSNP gnomAD v4
11g.121160125C>ACA2004739102TBCEL-TECTA,TECTAc.4690-10C>A (n.4690-10C>A)
c.1997-10C>A
n.626-10C>A
c.5647-10C>A (n.5647-10C>A)
 dbSNP
11g.121160125C=CA2004739101TBCEL-TECTA,TECTAc.4690-10C= (n.4690-10C=)
c.1997-10C=
n.626-10C=
c.5647-10C= (n.5647-10C=)
11g.121160125C>TCA2616489275TBCEL-TECTA,TECTAc.4690-10C>T (n.4690-10C>T)
c.1997-10C>T
n.626-10C>T
c.5647-10C>T (n.5647-10C>T)
 gnomAD v4
11g.121160129C=CA2004739104TBCEL-TECTA,TECTAc.4690-6C= (n.4690-6C=)
c.1997-6C=
n.626-6C=
c.5647-6C= (n.5647-6C=)
11g.121160129C>TCA6327547TBCEL-TECTA,TECTAc.4690-6C>T (n.4690-6C>T)
c.1997-6C>T
n.626-6C>T
c.5647-6C>T (n.5647-6C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121160131A=CA2004739106TBCEL-TECTA,TECTAc.4690-4A= (n.4690-4A=)
c.1997-4A=
n.626-4A=
c.5647-4A= (n.5647-4A=)
11g.121160131A>CCA672616892TBCEL-TECTA,TECTAc.4690-4A>C (n.4690-4A>C)
c.1997-4A>C
n.626-4A>C
c.5647-4A>C (n.5647-4A>C)
 dbSNP gnomAD v3 gnomAD v4
11g.121160131A>GCA6327548TBCEL-TECTA,TECTAc.4690-4A>G (n.4690-4A>G)
c.1997-4A>G
n.626-4A>G
c.5647-4A>G (n.5647-4A>G)
 ClinVar dbSNP ExAC gnomAD v4
11g.121160132T>CCA602580298TBCEL-TECTA,TECTAc.4690-3T>C (n.4690-3T>C)
c.1997-3T>C
n.626-3T>C
c.5647-3T>C (n.5647-3T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121160132T=CA2004739110TBCEL-TECTA,TECTAc.4690-3T= (n.4690-3T=)
c.1997-3T=
n.626-3T=
c.5647-3T= (n.5647-3T=)
11g.121160133A>CCA383028094TBCEL-TECTA,TECTAc.4690-2A>C (n.4690-2A>C)
c.1997-2A>C
n.626-2A>C
c.5647-2A>C (n.5647-2A>C)
11g.121160133A>GCA383028095TBCEL-TECTA,TECTAc.4690-2A>G (n.4690-2A>G)
c.1997-2A>G
n.626-2A>G
c.5647-2A>G (n.5647-2A>G)
11g.121160133A>TCA383028097TBCEL-TECTA,TECTAc.4690-2A>T (n.4690-2A>T)
c.1997-2A>T
n.626-2A>T
c.5647-2A>T (n.5647-2A>T)
11g.121160134G>ACA383028100TBCEL-TECTA,TECTAc.4690-1G>A (n.4690-1G>A)
c.1997-1G>A
n.626-1G>A
c.5647-1G>A (n.5647-1G>A)
 ClinVar gnomAD v4
11g.121160134G>CCA383028101TBCEL-TECTA,TECTAc.4690-1G>C (n.4690-1G>C)
c.1997-1G>C
n.626-1G>C
c.5647-1G>C (n.5647-1G>C)
11g.121160134G>TCA383028102TBCEL-TECTA,TECTAc.4690-1G>T (n.4690-1G>T)
c.1997-1G>T
n.626-1G>T
c.5647-1G>T (n.5647-1G>T)
11g.121160135G>ACA383028104TBCEL-TECTA,TECTAc.4690G>A (p.Val1564Met)
c.1997G>A
n.626G>A
c.5647G>A (p.Val1883Met)
11g.121160135G>CCA6327549TBCEL-TECTA,TECTAc.4690G>C (p.Val1564Leu)
c.1997G>C
n.626G>C
c.5647G>C (p.Val1883Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121160135G=CA2004739112TBCEL-TECTA,TECTAc.4690G= (p.Val1564=)
c.1997G=
n.626G=
c.5647G= (p.Val1883=)
11g.121160135G>TCA383028103TBCEL-TECTA,TECTAc.4690G>T (p.Val1564Leu)
c.1997G>T
n.626G>T
c.5647G>T (p.Val1883Leu)
11g.121160136T>ACA383028105TBCEL-TECTA,TECTAc.4691T>A (p.Val1564Glu)
c.1998T>A
n.627T>A
c.5648T>A (p.Val1883Glu)
11g.121160136T>CCA383028106TBCEL-TECTA,TECTAc.4691T>C (p.Val1564Ala)
c.1998T>C
n.627T>C
c.5648T>C (p.Val1883Ala)
11g.121160136T>GCA383028109TBCEL-TECTA,TECTAc.4691T>G (p.Val1564Gly)
c.1998T>G
n.627T>G
c.5648T>G (p.Val1883Gly)
11g.121160137G>ACA477383061TBCEL-TECTA,TECTAc.4692G>A (p.Val1564=)
c.1999G>A
n.628G>A
c.5649G>A (p.Val1883=)
11g.121160137G>CCA477383062TBCEL-TECTA,TECTAc.4692G>C (p.Val1564=)
c.1999G>C
n.628G>C
c.5649G>C (p.Val1883=)
 gnomAD v4
11g.121160137G>TCA477383063TBCEL-TECTA,TECTAc.4692G>T (p.Val1564=)
c.1999G>T
n.628G>T
c.5649G>T (p.Val1883=)
11g.121160138A>CCA383028113TBCEL-TECTA,TECTAc.4693A>C (p.Asn1565His)
c.2000A>C
n.629A>C
c.5650A>C (p.Asn1884His)
11g.121160138A>GCA383028115TBCEL-TECTA,TECTAc.4693A>G (p.Asn1565Asp)
c.2000A>G
n.629A>G
c.5650A>G (p.Asn1884Asp)
11g.121160138A>TCA383028117TBCEL-TECTA,TECTAc.4693A>T (p.Asn1565Tyr)
c.2000A>T
n.629A>T
c.5650A>T (p.Asn1884Tyr)
11g.121160139A>CCA383028120TBCEL-TECTA,TECTAc.4694A>C (p.Asn1565Thr)
c.2001A>C
n.630A>C
c.5651A>C (p.Asn1884Thr)
11g.121160139A>GCA383028122TBCEL-TECTA,TECTAc.4694A>G (p.Asn1565Ser)
c.2001A>G
n.630A>G
c.5651A>G (p.Asn1884Ser)
 gnomAD v4
11g.121160139A>TCA383028124TBCEL-TECTA,TECTAc.4694A>T (p.Asn1565Ile)
c.2001A>T
n.630A>T
c.5651A>T (p.Asn1884Ile)
11g.121160140T>ACA383028126TBCEL-TECTA,TECTAc.4695T>A (p.Asn1565Lys)
c.2002T>A
n.631T>A
c.5652T>A (p.Asn1884Lys)
11g.121160140T>CCA477383065TBCEL-TECTA,TECTAc.4695T>C (p.Asn1565=)
c.2002T>C
n.631T>C
c.5652T>C (p.Asn1884=)
11g.121160140T>GCA383028127TBCEL-TECTA,TECTAc.4695T>G (p.Asn1565Lys)
c.2002T>G
n.631T>G
c.5652T>G (p.Asn1884Lys)
11g.121160141G>ACA6327550TBCEL-TECTA,TECTAc.4696G>A (p.Gly1566Ser)
c.2003G>A
n.632G>A
c.5653G>A (p.Gly1885Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121160141G>CCA383028130TBCEL-TECTA,TECTAc.4696G>C (p.Gly1566Arg)
c.2003G>C
n.632G>C
c.5653G>C (p.Gly1885Arg)
11g.121160141G=CA2004739115TBCEL-TECTA,TECTAc.4696G= (p.Gly1566=)
c.2003G=
n.632G=
c.5653G= (p.Gly1885=)
11g.121160141G>TCA383028128TBCEL-TECTA,TECTAc.4696G>T (p.Gly1566Cys)
c.2003G>T
n.632G>T
c.5653G>T (p.Gly1885Cys)
11g.121160142G>ACA383028132TBCEL-TECTA,TECTAc.4697G>A (p.Gly1566Asp)
c.2004G>A
n.633G>A
c.5654G>A (p.Gly1885Asp)
 gnomAD v4
11g.121160142G>CCA383028133TBCEL-TECTA,TECTAc.4697G>C (p.Gly1566Ala)
c.2004G>C
n.633G>C
c.5654G>C (p.Gly1885Ala)
 dbSNP gnomAD v2
11g.121160142G=CA2004739117TBCEL-TECTA,TECTAc.4697G= (p.Gly1566=)
c.2004G=
n.633G=
c.5654G= (p.Gly1885=)
11g.121160142G>TCA383028135TBCEL-TECTA,TECTAc.4697G>T (p.Gly1566Val)
c.2004G>T
n.633G>T
c.5654G>T (p.Gly1885Val)
11g.121160143C>ACA477383066TBCEL-TECTA,TECTAc.4698C>A (p.Gly1566=)
c.2005C>A
n.634C>A
c.5655C>A (p.Gly1885=)
11g.121160143C>GCA477383067TBCEL-TECTA,TECTAc.4698C>G (p.Gly1566=)
c.2005C>G
n.634C>G
c.5655C>G (p.Gly1885=)
11g.121160143C>TCA477383068TBCEL-TECTA,TECTAc.4698C>T (p.Gly1566=)
c.2005C>T
n.634C>T
c.5655C>T (p.Gly1885=)
11g.121160144A>CCA383028139TBCEL-TECTA,TECTAc.4699A>C (p.Thr1567Pro)
c.2006A>C
n.635A>C
c.5656A>C (p.Thr1886Pro)
11g.121160144A>GCA383028140TBCEL-TECTA,TECTAc.4699A>G (p.Thr1567Ala)
c.2006A>G
n.635A>G
c.5656A>G (p.Thr1886Ala)
11g.121160144A>TCA383028142TBCEL-TECTA,TECTAc.4699A>T (p.Thr1567Ser)
c.2006A>T
n.635A>T
c.5656A>T (p.Thr1886Ser)
11g.121160145C>ACA383028144TBCEL-TECTA,TECTAc.4700C>A (p.Thr1567Lys)
c.2007C>A
n.636C>A
c.5657C>A (p.Thr1886Lys)
 gnomAD v4
11g.121160145C=CA2004739119TBCEL-TECTA,TECTAc.4700C= (p.Thr1567=)
c.2007C=
n.636C=
c.5657C= (p.Thr1886=)
11g.121160145C>GCA383028146TBCEL-TECTA,TECTAc.4700C>G (p.Thr1567Arg)
c.2007C>G
n.636C>G
c.5657C>G (p.Thr1886Arg)
11g.121160145C>TCA383028147TBCEL-TECTA,TECTAc.4700C>T (p.Thr1567Ile)
c.2007C>T
n.636C>T
c.5657C>T (p.Thr1886Ile)
 dbSNP
11g.121160146A>CCA477383069TBCEL-TECTA,TECTAc.4701A>C (p.Thr1567=)
c.2008A>C
n.637A>C
c.5658A>C (p.Thr1886=)
11g.121160146A>GCA477383070TBCEL-TECTA,TECTAc.4701A>G (p.Thr1567=)
c.2008A>G
n.637A>G
c.5658A>G (p.Thr1886=)
 dbSNP gnomAD v4
11g.121160146A>TCA477383071TBCEL-TECTA,TECTAc.4701A>T (p.Thr1567=)
c.2008A>T
n.637A>T
c.5658A>T (p.Thr1886=)
11g.121160147C>ACA383028148TBCEL-TECTA,TECTAc.4702C>A (p.Gln1568Lys)
c.2009C>A
n.638C>A
c.5659C>A (p.Gln1887Lys)
11g.121160147C>GCA383028149TBCEL-TECTA,TECTAc.4702C>G (p.Gln1568Glu)
c.2009C>G
n.638C>G
c.5659C>G (p.Gln1887Glu)
11g.121160147C>TCA383028150TBCEL-TECTA,TECTAc.4702C>T (p.Gln1568Ter)
c.2009C>T
n.638C>T
c.5659C>T (p.Gln1887Ter)
11g.121160148A>CCA383028156TBCEL-TECTA,TECTAc.4703A>C (p.Gln1568Pro)
c.2010A>C
n.639A>C
c.5660A>C (p.Gln1887Pro)
11g.121160148A>GCA383028159TBCEL-TECTA,TECTAc.4703A>G (p.Gln1568Arg)
c.2010A>G
n.639A>G
c.5660A>G (p.Gln1887Arg)
11g.121160148A>TCA383028151TBCEL-TECTA,TECTAc.4703A>T (p.Gln1568Leu)
c.2010A>T
n.639A>T
c.5660A>T (p.Gln1887Leu)
 gnomAD v4
11g.121160149A>CCA383028161TBCEL-TECTA,TECTAc.4704A>C (p.Gln1568His)
c.2011A>C
n.640A>C
c.5661A>C (p.Gln1887His)
11g.121160149A>GCA477383072TBCEL-TECTA,TECTAc.4704A>G (p.Gln1568=)
c.2011A>G
n.640A>G
c.5661A>G (p.Gln1887=)
11g.121160149A>TCA383028163TBCEL-TECTA,TECTAc.4704A>T (p.Gln1568His)
c.2011A>T
n.640A>T
c.5661A>T (p.Gln1887His)
11g.121160150G>ACA383028164TBCEL-TECTA,TECTAc.4705G>A (p.Val1569Met)
c.2012G>A
n.641G>A
c.5662G>A (p.Val1888Met)
 dbSNP gnomAD v2 gnomAD v4
11g.121160150G>CCA383028165TBCEL-TECTA,TECTAc.4705G>C (p.Val1569Leu)
c.2012G>C
n.641G>C
c.5662G>C (p.Val1888Leu)
11g.121160150G=CA2004739122TBCEL-TECTA,TECTAc.4705G= (p.Val1569=)
c.2012G=
n.641G=
c.5662G= (p.Val1888=)
11g.121160150G>TCA383028166TBCEL-TECTA,TECTAc.4705G>T (p.Val1569Leu)
c.2012G>T
n.641G>T
c.5662G>T (p.Val1888Leu)
11g.121160151T>ACA383028173TBCEL-TECTA,TECTAc.4706T>A (p.Val1569Glu)
c.2013T>A
n.642T>A
c.5663T>A (p.Val1888Glu)
11g.121160151T>CCA383028170TBCEL-TECTA,TECTAc.4706T>C (p.Val1569Ala)
c.2013T>C
n.642T>C
c.5663T>C (p.Val1888Ala)
11g.121160151T>GCA383028172TBCEL-TECTA,TECTAc.4706T>G (p.Val1569Gly)
c.2013T>G
n.642T>G
c.5663T>G (p.Val1888Gly)
11g.121160152G>ACA477383074TBCEL-TECTA,TECTAc.4707G>A (p.Val1569=)
c.2014G>A
n.643G>A
c.5664G>A (p.Val1888=)
11g.121160152G>CCA477383075TBCEL-TECTA,TECTAc.4707G>C (p.Val1569=)
c.2014G>C
n.643G>C
c.5664G>C (p.Val1888=)
 gnomAD v4
11g.121160152G>TCA477383076TBCEL-TECTA,TECTAc.4707G>T (p.Val1569=)
c.2014G>T
n.643G>T
c.5664G>T (p.Val1888=)
11g.121160153A>CCA383028175TBCEL-TECTA,TECTAc.4708A>C (p.Asn1570His)
c.2015A>C
n.644A>C
c.5665A>C (p.Asn1889His)
11g.121160153A>GCA383028176TBCEL-TECTA,TECTAc.4708A>G (p.Asn1570Asp)
c.2015A>G
n.644A>G
c.5665A>G (p.Asn1889Asp)
11g.121160153A>TCA383028177TBCEL-TECTA,TECTAc.4708A>T (p.Asn1570Tyr)
c.2015A>T
n.644A>T
c.5665A>T (p.Asn1889Tyr)
11g.121160154A>CCA383028178TBCEL-TECTA,TECTAc.4709A>C (p.Asn1570Thr)
c.2016A>C
n.645A>C
c.5666A>C (p.Asn1889Thr)
11g.121160154A>GCA383028184TBCEL-TECTA,TECTAc.4709A>G (p.Asn1570Ser)
c.2016A>G
n.645A>G
c.5666A>G (p.Asn1889Ser)
11g.121160154A>TCA383028186TBCEL-TECTA,TECTAc.4709A>T (p.Asn1570Ile)
c.2016A>T
n.645A>T
c.5666A>T (p.Asn1889Ile)
11g.121160155T>ACA383028189TBCEL-TECTA,TECTAc.4710T>A (p.Asn1570Lys)
c.2017T>A
n.646T>A
c.5667T>A (p.Asn1889Lys)
11g.121160155T>CCA477383078TBCEL-TECTA,TECTAc.4710T>C (p.Asn1570=)
c.2017T>C
n.646T>C
c.5667T>C (p.Asn1889=)
11g.121160155T>GCA383028188TBCEL-TECTA,TECTAc.4710T>G (p.Asn1570Lys)
c.2017T>G
n.646T>G
c.5667T>G (p.Asn1889Lys)
11g.121160156G>ACA383028190TBCEL-TECTA,TECTAc.4711G>A (p.Val1571Ile)
c.2018G>A
n.647G>A
c.5668G>A (p.Val1890Ile)
 gnomAD v4
11g.121160156G>CCA383028193TBCEL-TECTA,TECTAc.4711G>C (p.Val1571Leu)
c.2018G>C
n.647G>C
c.5668G>C (p.Val1890Leu)
 dbSNP gnomAD v4
11g.121160156G=CA2004739125TBCEL-TECTA,TECTAc.4711G= (p.Val1571=)
c.2018G=
n.647G=
c.5668G= (p.Val1890=)
11g.121160156G>TCA383028191TBCEL-TECTA,TECTAc.4711G>T (p.Val1571Phe)
c.2018G>T
n.647G>T
c.5668G>T (p.Val1890Phe)
11g.121160157T>ACA383028195TBCEL-TECTA,TECTAc.4712T>A (p.Val1571Asp)
c.2019T>A
n.648T>A
c.5669T>A (p.Val1890Asp)
11g.121160157T>CCA383028198TBCEL-TECTA,TECTAc.4712T>C (p.Val1571Ala)
c.2019T>C
n.648T>C
c.5669T>C (p.Val1890Ala)
11g.121160157T>GCA383028200TBCEL-TECTA,TECTAc.4712T>G (p.Val1571Gly)
c.2019T>G
n.648T>G
c.5669T>G (p.Val1890Gly)
11g.121160158T>ACA477383081TBCEL-TECTA,TECTAc.4713T>A (p.Val1571=)
c.2020T>A
n.649T>A
c.5670T>A (p.Val1890=)
11g.121160158T>CCA477383082TBCEL-TECTA,TECTAc.4713T>C (p.Val1571=)
c.2020T>C
n.649T>C
c.5670T>C (p.Val1890=)
11g.121160158T>GCA477383083TBCEL-TECTA,TECTAc.4713T>G (p.Val1571=)
c.2020T>G
n.649T>G
c.5670T>G (p.Val1890=)
11g.121160159C>ACA383028207TBCEL-TECTA,TECTAc.4714C>A (p.Pro1572Thr)
c.2021C>A
n.650C>A
c.5671C>A (p.Pro1891Thr)
11g.121160159C>GCA383028209TBCEL-TECTA,TECTAc.4714C>G (p.Pro1572Ala)
c.2021C>G
n.650C>G
c.5671C>G (p.Pro1891Ala)
11g.121160159C>TCA383028218TBCEL-TECTA,TECTAc.4714C>T (p.Pro1572Ser)
c.2021C>T
n.650C>T
c.5671C>T (p.Pro1891Ser)
11g.121160160C>ACA383028221TBCEL-TECTA,TECTAc.4715C>A (p.Pro1572Gln)
c.2022C>A
n.651C>A
c.5672C>A (p.Pro1891Gln)
 dbSNP gnomAD v4
11g.121160160C=CA2004739128TBCEL-TECTA,TECTAc.4715C= (p.Pro1572=)
c.2022C=
n.651C=
c.5672C= (p.Pro1891=)
11g.121160160C>GCA383028223TBCEL-TECTA,TECTAc.4715C>G (p.Pro1572Arg)
c.2022C>G
n.651C>G
c.5672C>G (p.Pro1891Arg)
11g.121160160C>TCA383028225TBCEL-TECTA,TECTAc.4715C>T (p.Pro1572Leu)
c.2022C>T
n.651C>T
c.5672C>T (p.Pro1891Leu)
11g.121160161A>CCA477383084TBCEL-TECTA,TECTAc.4716A>C (p.Pro1572=)
c.2023A>C
n.652A>C
c.5673A>C (p.Pro1891=)
11g.121160161A>GCA477383086TBCEL-TECTA,TECTAc.4716A>G (p.Pro1572=)
c.2023A>G
n.652A>G
c.5673A>G (p.Pro1891=)
11g.121160161A>TCA477383085TBCEL-TECTA,TECTAc.4716A>T (p.Pro1572=)
c.2023A>T
n.652A>T
c.5673A>T (p.Pro1891=)
11g.121160162T>ACA383028230TBCEL-TECTA,TECTAc.4717T>A (p.Phe1573Ile)
c.2024T>A
n.653T>A
c.5674T>A (p.Phe1892Ile)
11g.121160162T>CCA383028231TBCEL-TECTA,TECTAc.4717T>C (p.Phe1573Leu)
c.2024T>C
n.653T>C
c.5674T>C (p.Phe1892Leu)
11g.121160162T>GCA383028233TBCEL-TECTA,TECTAc.4717T>G (p.Phe1573Val)
c.2024T>G
n.653T>G
c.5674T>G (p.Phe1892Val)
11g.121160164delCA2616489309TBCEL-TECTA,TECTAc.4719del (p.Phe1573LeufsTer2)
c.2026del
n.655del
c.5676del (p.Phe1892LeufsTer2)
 gnomAD v4
11g.121160163T>ACA383028237TBCEL-TECTA,TECTAc.4718T>A (p.Phe1573Tyr)
c.2025T>A
n.654T>A
c.5675T>A (p.Phe1892Tyr)
11g.121160163T>CCA6327551TBCEL-TECTA,TECTAc.4718T>C (p.Phe1573Ser)
c.2025T>C
n.654T>C
c.5675T>C (p.Phe1892Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121160163T>GCA383028236TBCEL-TECTA,TECTAc.4718T>G (p.Phe1573Cys)
c.2025T>G
n.654T>G
c.5675T>G (p.Phe1892Cys)
11g.121160163T=CA2004739133TBCEL-TECTA,TECTAc.4718T= (p.Phe1573=)
c.2025T=
n.654T=
c.5675T= (p.Phe1892=)
11g.121160164T>ACA229846013TBCEL-TECTA,TECTAc.4719T>A (p.Phe1573Leu)
c.2026T>A
n.655T>A
c.5676T>A (p.Phe1892Leu)
 dbSNP
11g.121160164T>CCA477383087TBCEL-TECTA,TECTAc.4719T>C (p.Phe1573=)
c.2026T>C
n.655T>C
c.5676T>C (p.Phe1892=)
11g.121160164T>GCA383028239TBCEL-TECTA,TECTAc.4719T>G (p.Phe1573Leu)
c.2026T>G
n.655T>G
c.5676T>G (p.Phe1892Leu)
11g.121160164T=CA2004739139TBCEL-TECTA,TECTAc.4719T= (p.Phe1573=)
c.2026T=
n.655T=
c.5676T= (p.Phe1892=)
11g.121160165A=CA2004739142TBCEL-TECTA,TECTAc.4720A= (p.Ile1574=)
c.2027A=
n.656A=
c.5677A= (p.Ile1893=)
11g.121160165A>CCA383028241TBCEL-TECTA,TECTAc.4720A>C (p.Ile1574Leu)
c.2027A>C
n.656A>C
c.5677A>C (p.Ile1893Leu)
11g.121160165A>GCA6327552TBCEL-TECTA,TECTAc.4720A>G (p.Ile1574Val)
c.2027A>G
n.656A>G
c.5677A>G (p.Ile1893Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121160165A>TCA383028244TBCEL-TECTA,TECTAc.4720A>T (p.Ile1574Leu)
c.2027A>T
n.656A>T
c.5677A>T (p.Ile1893Leu)
11g.121160166T>ACA383028246TBCEL-TECTA,TECTAc.4721T>A (p.Ile1574Lys)
c.2028T>A
n.657T>A
c.5678T>A (p.Ile1893Lys)
11g.121160166T>CCA383028247TBCEL-TECTA,TECTAc.4721T>C (p.Ile1574Thr)
c.2028T>C
n.657T>C
c.5678T>C (p.Ile1893Thr)
 gnomAD v4
11g.121160166T>GCA383028252TBCEL-TECTA,TECTAc.4721T>G (p.Ile1574Arg)
c.2028T>G
n.657T>G
c.5678T>G (p.Ile1893Arg)
11g.121160167A=CA2004739147TBCEL-TECTA,TECTAc.4722A= (p.Ile1574=)
c.2029A=
n.658A=
c.5679A= (p.Ile1893=)
11g.121160167A>CCA477383090TBCEL-TECTA,TECTAc.4722A>C (p.Ile1574=)
c.2029A>C
n.658A>C
c.5679A>C (p.Ile1893=)
11g.121160167A>GCA6327553TBCEL-TECTA,TECTAc.4722A>G (p.Ile1574Met)
c.2029A>G
n.658A>G
c.5679A>G (p.Ile1893Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121160167A>TCA477383089TBCEL-TECTA,TECTAc.4722A>T (p.Ile1574=)
c.2029A>T
n.658A>T
c.5679A>T (p.Ile1893=)
11g.121160168A>CCA383028255TBCEL-TECTA,TECTAc.4723A>C (p.Thr1575Pro)
c.2030A>C
n.659A>C
c.5680A>C (p.Thr1894Pro)
11g.121160168A>GCA383028257TBCEL-TECTA,TECTAc.4723A>G (p.Thr1575Ala)
c.2030A>G
n.659A>G
c.5680A>G (p.Thr1894Ala)
11g.121160168A>TCA383028264TBCEL-TECTA,TECTAc.4723A>T (p.Thr1575Ser)
c.2030A>T
n.659A>T
c.5680A>T (p.Thr1894Ser)
11g.121160169C>ACA383028269TBCEL-TECTA,TECTAc.4724C>A (p.Thr1575Asn)
c.2031C>A
n.660C>A
c.5681C>A (p.Thr1894Asn)
 dbSNP
11g.121160169C=CA2004739150TBCEL-TECTA,TECTAc.4724C= (p.Thr1575=)
c.2031C=
n.660C=
c.5681C= (p.Thr1894=)
11g.121160169C>GCA383028268TBCEL-TECTA,TECTAc.4724C>G (p.Thr1575Ser)
c.2031C>G
n.660C>G
c.5681C>G (p.Thr1894Ser)
 COSMIC
11g.121160169C>TCA383028267TBCEL-TECTA,TECTAc.4724C>T (p.Thr1575Ile)
c.2031C>T
n.660C>T
c.5681C>T (p.Thr1894Ile)
11g.121160170T>ACA477383161TBCEL-TECTA,TECTAc.4725T>A (p.Thr1575=)
c.2032T>A
n.661T>A
c.5682T>A (p.Thr1894=)
 dbSNP
11g.121160170T>CCA477383162TBCEL-TECTA,TECTAc.4725T>C (p.Thr1575=)
c.2032T>C
n.661T>C
c.5682T>C (p.Thr1894=)
11g.121160170T>GCA477383163TBCEL-TECTA,TECTAc.4725T>G (p.Thr1575=)
c.2032T>G
n.661T>G
c.5682T>G (p.Thr1894=)
11g.121160170T=CA2004739153TBCEL-TECTA,TECTAc.4725T= (p.Thr1575=)
c.2032T=
n.661T=
c.5682T= (p.Thr1894=)
11g.121160171G>ACA383028273TBCEL-TECTA,TECTAc.4726G>A (p.Gly1576Ser)
c.2033G>A
n.662G>A
c.5683G>A (p.Gly1895Ser)
11g.121160171G>CCA383028275TBCEL-TECTA,TECTAc.4726G>C (p.Gly1576Arg)
c.2033G>C
n.662G>C
c.5683G>C (p.Gly1895Arg)
11g.121160171G>TCA383028277TBCEL-TECTA,TECTAc.4726G>T (p.Gly1576Cys)
c.2033G>T
n.662G>T
c.5683G>T (p.Gly1895Cys)

Number of alleles fetched