Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.121187830A>CCA383009515TBCEL-TECTA,TECTAc.6000-2A>C (n.6000-2A>C)
c.5985-2A>C (n.5985-2A>C)
c.3292-2A>C
n.2380-2A>C
c.6942-2A>C (n.6942-2A>C)
11g.121187830A>GCA383009516TBCEL-TECTA,TECTAc.6000-2A>G (n.6000-2A>G)
c.5985-2A>G (n.5985-2A>G)
c.3292-2A>G
n.2380-2A>G
c.6942-2A>G (n.6942-2A>G)
11g.121187830A>TCA383009517TBCEL-TECTA,TECTAc.6000-2A>T (n.6000-2A>T)
c.5985-2A>T (n.5985-2A>T)
c.3292-2A>T
n.2380-2A>T
c.6942-2A>T (n.6942-2A>T)
11g.121187831G>ACA229828319TBCEL-TECTA,TECTAc.6000-1G>A (n.6000-1G>A)
c.5985-1G>A (n.5985-1G>A)
c.3292-1G>A
n.2380-1G>A
c.6942-1G>A (n.6942-1G>A)
 dbSNP gnomAD v3 gnomAD v4
11g.121187831G>CCA383009518TBCEL-TECTA,TECTAc.6000-1G>C (n.6000-1G>C)
c.5985-1G>C (n.5985-1G>C)
c.3292-1G>C
n.2380-1G>C
c.6942-1G>C (n.6942-1G>C)
11g.121187831G=CA2004763135TBCEL-TECTA,TECTAc.6000-1G= (n.6000-1G=)
c.5985-1G= (n.5985-1G=)
c.3292-1G=
n.2380-1G=
c.6942-1G= (n.6942-1G=)
11g.121187831G>TCA383009519TBCEL-TECTA,TECTAc.6000-1G>T (n.6000-1G>T)
c.5985-1G>T (n.5985-1G>T)
c.3292-1G>T
n.2380-1G>T
c.6942-1G>T (n.6942-1G>T)
 gnomAD v4
11g.121187832G>ACA477209036TBCEL-TECTA,TECTAc.6000G>A (p.Gly2000=)
c.5985G>A (p.Gly1995=)
c.3292G>A
n.2380G>A
c.6942G>A (p.Gly2314=)
11g.121187832G>CCA477209037TBCEL-TECTA,TECTAc.6000G>C (p.Gly2000=)
c.5985G>C (p.Gly1995=)
c.3292G>C
n.2380G>C
c.6942G>C (p.Gly2314=)
11g.121187832G=CA2004763136TBCEL-TECTA,TECTAc.6000G= (p.Gly2000=)
c.5985G= (p.Gly1995=)
c.3292G=
n.2380G=
c.6942G= (p.Gly2314=)
11g.121187832G>TCA477209038TBCEL-TECTA,TECTAc.6000G>T (p.Gly2000=)
c.5985G>T (p.Gly1995=)
c.3292G>T
n.2380G>T
c.6942G>T (p.Gly2314=)
 dbSNP
11g.121187833T>ACA383009520TBCEL-TECTA,TECTAc.6001T>A (p.Cys2001Ser)
c.5986T>A (p.Cys1996Ser)
c.3293T>A
n.2381T>A
c.6943T>A (p.Cys2315Ser)
11g.121187833T>CCA383009521TBCEL-TECTA,TECTAc.6001T>C (p.Cys2001Arg)
c.5986T>C (p.Cys1996Arg)
c.3293T>C
n.2381T>C
c.6943T>C (p.Cys2315Arg)
11g.121187833T>GCA383009522TBCEL-TECTA,TECTAc.6001T>G (p.Cys2001Gly)
c.5986T>G (p.Cys1996Gly)
c.3293T>G
n.2381T>G
c.6943T>G (p.Cys2315Gly)
11g.121187834G>ACA383009523TBCEL-TECTA,TECTAc.6002G>A (p.Cys2001Tyr)
c.5987G>A (p.Cys1996Tyr)
c.3294G>A
n.2382G>A
c.6944G>A (p.Cys2315Tyr)
 ClinVar
11g.121187834G>CCA383009524TBCEL-TECTA,TECTAc.6002G>C (p.Cys2001Ser)
c.5987G>C (p.Cys1996Ser)
c.3294G>C
n.2382G>C
c.6944G>C (p.Cys2315Ser)
11g.121187834G>TCA383009525TBCEL-TECTA,TECTAc.6002G>T (p.Cys2001Phe)
c.5987G>T (p.Cys1996Phe)
c.3294G>T
n.2382G>T
c.6944G>T (p.Cys2315Phe)
11g.121187835T>ACA383009527TBCEL-TECTA,TECTAc.6003T>A (p.Cys2001Ter)
c.5988T>A (p.Cys1996Ter)
c.3295T>A
n.2383T>A
c.6945T>A (p.Cys2315Ter)
11g.121187835T>CCA477209039TBCEL-TECTA,TECTAc.6003T>C (p.Cys2001=)
c.5988T>C (p.Cys1996=)
c.3295T>C
n.2383T>C
c.6945T>C (p.Cys2315=)
11g.121187835T>GCA383009526TBCEL-TECTA,TECTAc.6003T>G (p.Cys2001Trp)
c.5988T>G (p.Cys1996Trp)
c.3295T>G
n.2383T>G
c.6945T>G (p.Cys2315Trp)
11g.121187836C>ACA383009528TBCEL-TECTA,TECTAc.6004C>A (p.Gln2002Lys)
c.5989C>A (p.Gln1997Lys)
c.3296C>A
n.2384C>A
c.6946C>A (p.Gln2316Lys)
11g.121187836C=CA2004763137TBCEL-TECTA,TECTAc.6004C= (p.Gln2002=)
c.5989C= (p.Gln1997=)
c.3296C=
n.2384C=
c.6946C= (p.Gln2316=)
11g.121187836C>GCA383009529TBCEL-TECTA,TECTAc.6004C>G (p.Gln2002Glu)
c.5989C>G (p.Gln1997Glu)
c.3296C>G
n.2384C>G
c.6946C>G (p.Gln2316Glu)
 dbSNP
11g.121187836C>TCA383009530TBCEL-TECTA,TECTAc.6004C>T (p.Gln2002Ter)
c.5989C>T (p.Gln1997Ter)
c.3296C>T
n.2384C>T
c.6946C>T (p.Gln2316Ter)
 gnomAD v4
11g.121187837A>CCA383009531TBCEL-TECTA,TECTAc.6005A>C (p.Gln2002Pro)
c.5990A>C (p.Gln1997Pro)
c.3297A>C
n.2385A>C
c.6947A>C (p.Gln2316Pro)
11g.121187837A>GCA383009532TBCEL-TECTA,TECTAc.6005A>G (p.Gln2002Arg)
c.5990A>G (p.Gln1997Arg)
c.3297A>G
n.2385A>G
c.6947A>G (p.Gln2316Arg)
11g.121187837A>TCA383009533TBCEL-TECTA,TECTAc.6005A>T (p.Gln2002Leu)
c.5990A>T (p.Gln1997Leu)
c.3297A>T
n.2385A>T
c.6947A>T (p.Gln2316Leu)
11g.121187838G>ACA477209040TBCEL-TECTA,TECTAc.6006G>A (p.Gln2002=)
c.5991G>A (p.Gln1997=)
c.3298G>A
n.2386G>A
c.6948G>A (p.Gln2316=)
 COSMIC
11g.121187838G>CCA383009534TBCEL-TECTA,TECTAc.6006G>C (p.Gln2002His)
c.5991G>C (p.Gln1997His)
c.3298G>C
n.2386G>C
c.6948G>C (p.Gln2316His)
11g.121187838G>TCA383009535TBCEL-TECTA,TECTAc.6006G>T (p.Gln2002His)
c.5991G>T (p.Gln1997His)
c.3298G>T
n.2386G>T
c.6948G>T (p.Gln2316His)
11g.121187839A>CCA383009536TBCEL-TECTA,TECTAc.6007A>C (p.Asn2003His)
c.5992A>C (p.Asn1998His)
c.3299A>C
n.2387A>C
c.6949A>C (p.Asn2317His)
11g.121187839A>GCA383009537TBCEL-TECTA,TECTAc.6007A>G (p.Asn2003Asp)
c.5992A>G (p.Asn1998Asp)
c.3299A>G
n.2387A>G
c.6949A>G (p.Asn2317Asp)
11g.121187839A>TCA383009538TBCEL-TECTA,TECTAc.6007A>T (p.Asn2003Tyr)
c.5992A>T (p.Asn1998Tyr)
c.3299A>T
n.2387A>T
c.6949A>T (p.Asn2317Tyr)
11g.121187840A=CA2004763138TBCEL-TECTA,TECTAc.6008A= (p.Asn2003=)
c.5993A= (p.Asn1998=)
c.3300A=
n.2388A=
c.6950A= (p.Asn2317=)
11g.121187840A>CCA383009539TBCEL-TECTA,TECTAc.6008A>C (p.Asn2003Thr)
c.5993A>C (p.Asn1998Thr)
c.3300A>C
n.2388A>C
c.6950A>C (p.Asn2317Thr)
11g.121187840A>GCA383009540TBCEL-TECTA,TECTAc.6008A>G (p.Asn2003Ser)
c.5993A>G (p.Asn1998Ser)
c.3300A>G
n.2388A>G
c.6950A>G (p.Asn2317Ser)
11g.121187840A>TCA383009541TBCEL-TECTA,TECTAc.6008A>T (p.Asn2003Ile)
c.5993A>T (p.Asn1998Ile)
c.3300A>T
n.2388A>T
c.6950A>T (p.Asn2317Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121187841C>ACA383009542TBCEL-TECTA,TECTAc.6009C>A (p.Asn2003Lys)
c.5994C>A (p.Asn1998Lys)
c.3301C>A
n.2389C>A
c.6951C>A (p.Asn2317Lys)
11g.121187841C=CA2004763139TBCEL-TECTA,TECTAc.6009C= (p.Asn2003=)
c.5994C= (p.Asn1998=)
c.3301C=
n.2389C=
c.6951C= (p.Asn2317=)
11g.121187841C>GCA383009543TBCEL-TECTA,TECTAc.6009C>G (p.Asn2003Lys)
c.5994C>G (p.Asn1998Lys)
c.3301C>G
n.2389C>G
c.6951C>G (p.Asn2317Lys)
11g.121187841C>TCA477209041TBCEL-TECTA,TECTAc.6009C>T (p.Asn2003=)
c.5994C>T (p.Asn1998=)
c.3301C>T
n.2389C>T
c.6951C>T (p.Asn2317=)
 dbSNP gnomAD v2 gnomAD v4
11g.121187842C>ACA383009544TBCEL-TECTA,TECTAc.6010C>A (p.Leu2004Ile)
c.5995C>A (p.Leu1999Ile)
c.3302C>A
n.2390C>A
c.6952C>A (p.Leu2318Ile)
 dbSNP gnomAD v2 gnomAD v4
11g.121187842C=CA2004763140TBCEL-TECTA,TECTAc.6010C= (p.Leu2004=)
c.5995C= (p.Leu1999=)
c.3302C=
n.2390C=
c.6952C= (p.Leu2318=)
11g.121187842C>GCA383009545TBCEL-TECTA,TECTAc.6010C>G (p.Leu2004Val)
c.5995C>G (p.Leu1999Val)
c.3302C>G
n.2390C>G
c.6952C>G (p.Leu2318Val)
11g.121187842C>TCA383009546TBCEL-TECTA,TECTAc.6010C>T (p.Leu2004Phe)
c.5995C>T (p.Leu1999Phe)
c.3302C>T
n.2390C>T
c.6952C>T (p.Leu2318Phe)
11g.121187843T>ACA383009547TBCEL-TECTA,TECTAc.6011T>A (p.Leu2004His)
c.5996T>A (p.Leu1999His)
c.3303T>A
n.2391T>A
c.6953T>A (p.Leu2318His)
 gnomAD v4
11g.121187843T>CCA383009548TBCEL-TECTA,TECTAc.6011T>C (p.Leu2004Pro)
c.5996T>C (p.Leu1999Pro)
c.3303T>C
n.2391T>C
c.6953T>C (p.Leu2318Pro)
11g.121187843T>GCA383009549TBCEL-TECTA,TECTAc.6011T>G (p.Leu2004Arg)
c.5996T>G (p.Leu1999Arg)
c.3303T>G
n.2391T>G
c.6953T>G (p.Leu2318Arg)
11g.121187844C>ACA477209042TBCEL-TECTA,TECTAc.6012C>A (p.Leu2004=)
c.5997C>A (p.Leu1999=)
c.3304C>A
n.2392C>A
c.6954C>A (p.Leu2318=)
11g.121187844C>GCA477209043TBCEL-TECTA,TECTAc.6012C>G (p.Leu2004=)
c.5997C>G (p.Leu1999=)
c.3304C>G
n.2392C>G
c.6954C>G (p.Leu2318=)
11g.121187844C>TCA477209044TBCEL-TECTA,TECTAc.6012C>T (p.Leu2004=)
c.5997C>T (p.Leu1999=)
c.3304C>T
n.2392C>T
c.6954C>T (p.Leu2318=)
11g.121187845A=CA2004763141TBCEL-TECTA,TECTAc.6013A= (p.Lys2005=)
c.5998A= (p.Lys2000=)
c.3305A=
n.2393A=
c.6955A= (p.Lys2319=)
11g.121187845A>CCA6327869TBCEL-TECTA,TECTAc.6013A>C (p.Lys2005Gln)
c.5998A>C (p.Lys2000Gln)
c.3305A>C
n.2393A>C
c.6955A>C (p.Lys2319Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121187845A>GCA383009550TBCEL-TECTA,TECTAc.6013A>G (p.Lys2005Glu)
c.5998A>G (p.Lys2000Glu)
c.3305A>G
n.2393A>G
c.6955A>G (p.Lys2319Glu)
11g.121187845A>TCA383009551TBCEL-TECTA,TECTAc.6013A>T (p.Lys2005Ter)
c.5998A>T (p.Lys2000Ter)
c.3305A>T
n.2393A>T
c.6955A>T (p.Lys2319Ter)
11g.121187845_121187850delinsAAAGATCA2004763142TBCEL-TECTA,TECTAc.6013_6018delinsAAAGAT (p.Lys2005=)
c.5998_6003delinsAAAGAT (p.Lys2000=)
c.3305_3310delinsAAAGAT
n.2393_2398delinsAAAGAT
c.6955_6960delinsAAAGAT (p.Lys2319=)
11g.121187846A>CCA383009552TBCEL-TECTA,TECTAc.6014A>C (p.Lys2005Thr)
c.5999A>C (p.Lys2000Thr)
c.3306A>C
n.2394A>C
c.6956A>C (p.Lys2319Thr)
11g.121187846A>GCA383009553TBCEL-TECTA,TECTAc.6014A>G (p.Lys2005Arg)
c.5999A>G (p.Lys2000Arg)
c.3306A>G
n.2394A>G
c.6956A>G (p.Lys2319Arg)
11g.121187846A>TCA383009554TBCEL-TECTA,TECTAc.6014A>T (p.Lys2005Ile)
c.5999A>T (p.Lys2000Ile)
c.3306A>T
n.2394A>T
c.6956A>T (p.Lys2319Ile)
11g.121187848_121187852delCA6327870TBCEL-TECTA,TECTAc.6016_6020del (p.Asp2006HisfsTer21)
c.6001_6005del (p.Asp2001HisfsTer21)
c.3308_3312del
n.2396_2400del
c.6958_6962del (p.Asp2320HisfsTer21)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121187847A>CCA383009556TBCEL-TECTA,TECTAc.6015A>C (p.Lys2005Asn)
c.6000A>C (p.Lys2000Asn)
c.3307A>C
n.2395A>C
c.6957A>C (p.Lys2319Asn)
11g.121187847A>GCA477209045TBCEL-TECTA,TECTAc.6015A>G (p.Lys2005=)
c.6000A>G (p.Lys2000=)
c.3307A>G
n.2395A>G
c.6957A>G (p.Lys2319=)
11g.121187847A>TCA383009555TBCEL-TECTA,TECTAc.6015A>T (p.Lys2005Asn)
c.6000A>T (p.Lys2000Asn)
c.3307A>T
n.2395A>T
c.6957A>T (p.Lys2319Asn)
11g.121187848G>ACA383009557TBCEL-TECTA,TECTAc.6016G>A (p.Asp2006Asn)
c.6001G>A (p.Asp2001Asn)
c.3308G>A
n.2396G>A
c.6958G>A (p.Asp2320Asn)
 ClinVar dbSNP
11g.121187848G>CCA383009559TBCEL-TECTA,TECTAc.6016G>C (p.Asp2006His)
c.6001G>C (p.Asp2001His)
c.3308G>C
n.2396G>C
c.6958G>C (p.Asp2320His)
11g.121187848G>TCA383009558TBCEL-TECTA,TECTAc.6016G>T (p.Asp2006Tyr)
c.6001G>T (p.Asp2001Tyr)
c.3308G>T
n.2396G>T
c.6958G>T (p.Asp2320Tyr)
11g.121187849A=CA2004763143TBCEL-TECTA,TECTAc.6017A= (p.Asp2006=)
c.6002A= (p.Asp2001=)
c.3309A=
n.2397A=
c.6959A= (p.Asp2320=)
11g.121187849A>CCA383009560TBCEL-TECTA,TECTAc.6017A>C (p.Asp2006Ala)
c.6002A>C (p.Asp2001Ala)
c.3309A>C
n.2397A>C
c.6959A>C (p.Asp2320Ala)
11g.121187849A>GCA10581507TBCEL-TECTA,TECTAc.6017A>G (p.Asp2006Gly)
c.6002A>G (p.Asp2001Gly)
c.3309A>G
n.2397A>G
c.6959A>G (p.Asp2320Gly)
 ClinVar dbSNP gnomAD v4
11g.121187849A>TCA383009561TBCEL-TECTA,TECTAc.6017A>T (p.Asp2006Val)
c.6002A>T (p.Asp2001Val)
c.3309A>T
n.2397A>T
c.6959A>T (p.Asp2320Val)
11g.121187850T>ACA383009562TBCEL-TECTA,TECTAc.6018T>A (p.Asp2006Glu)
c.6003T>A (p.Asp2001Glu)
c.3310T>A
n.2398T>A
c.6960T>A (p.Asp2320Glu)
11g.121187850T>CCA477209046TBCEL-TECTA,TECTAc.6018T>C (p.Asp2006=)
c.6003T>C (p.Asp2001=)
c.3310T>C
n.2398T>C
c.6960T>C (p.Asp2320=)
11g.121187850T>GCA383009563TBCEL-TECTA,TECTAc.6018T>G (p.Asp2006Glu)
c.6003T>G (p.Asp2001Glu)
c.3310T>G
n.2398T>G
c.6960T>G (p.Asp2320Glu)
11g.121187851A>CCA383009564TBCEL-TECTA,TECTAc.6019A>C (p.Asn2007His)
c.6004A>C (p.Asn2002His)
c.3311A>C
n.2399A>C
c.6961A>C (p.Asn2321His)
11g.121187851A>GCA383009565TBCEL-TECTA,TECTAc.6019A>G (p.Asn2007Asp)
c.6004A>G (p.Asn2002Asp)
c.3311A>G
n.2399A>G
c.6961A>G (p.Asn2321Asp)
11g.121187851A>TCA383009566TBCEL-TECTA,TECTAc.6019A>T (p.Asn2007Tyr)
c.6004A>T (p.Asn2002Tyr)
c.3311A>T
n.2399A>T
c.6961A>T (p.Asn2321Tyr)
11g.121187852A=CA2004763144TBCEL-TECTA,TECTAc.6020A= (p.Asn2007=)
c.6005A= (p.Asn2002=)
c.3312A=
n.2400A=
c.6962A= (p.Asn2321=)
11g.121187852A>CCA383009567TBCEL-TECTA,TECTAc.6020A>C (p.Asn2007Thr)
c.6005A>C (p.Asn2002Thr)
c.3312A>C
n.2400A>C
c.6962A>C (p.Asn2321Thr)
 dbSNP gnomAD v2 gnomAD v4
11g.121187852A>GCA383009568TBCEL-TECTA,TECTAc.6020A>G (p.Asn2007Ser)
c.6005A>G (p.Asn2002Ser)
c.3312A>G
n.2400A>G
c.6962A>G (p.Asn2321Ser)
11g.121187852A>TCA383009569TBCEL-TECTA,TECTAc.6020A>T (p.Asn2007Ile)
c.6005A>T (p.Asn2002Ile)
c.3312A>T
n.2400A>T
c.6962A>T (p.Asn2321Ile)
 dbSNP gnomAD v4
11g.121187853C>ACA383009570TBCEL-TECTA,TECTAc.6021C>A (p.Asn2007Lys)
c.6006C>A (p.Asn2002Lys)
c.3313C>A
n.2401C>A
c.6963C>A (p.Asn2321Lys)
11g.121187853C>GCA383009571TBCEL-TECTA,TECTAc.6021C>G (p.Asn2007Lys)
c.6006C>G (p.Asn2002Lys)
c.3313C>G
n.2401C>G
c.6963C>G (p.Asn2321Lys)
11g.121187853C>TCA477209047TBCEL-TECTA,TECTAc.6021C>T (p.Asn2007=)
c.6006C>T (p.Asn2002=)
c.3313C>T
n.2401C>T
c.6963C>T (p.Asn2321=)
11g.121187854A>CCA383009572TBCEL-TECTA,TECTAc.6022A>C (p.Thr2008Pro)
c.6007A>C (p.Thr2003Pro)
c.3314A>C
n.2402A>C
c.6964A>C (p.Thr2322Pro)
 ClinVar
11g.121187854A>GCA383009574TBCEL-TECTA,TECTAc.6022A>G (p.Thr2008Ala)
c.6007A>G (p.Thr2003Ala)
c.3314A>G
n.2402A>G
c.6964A>G (p.Thr2322Ala)
11g.121187854A>TCA383009573TBCEL-TECTA,TECTAc.6022A>T (p.Thr2008Ser)
c.6007A>T (p.Thr2003Ser)
c.3314A>T
n.2402A>T
c.6964A>T (p.Thr2322Ser)
11g.121187855C>ACA383009575TBCEL-TECTA,TECTAc.6023C>A (p.Thr2008Asn)
c.6008C>A (p.Thr2003Asn)
c.3315C>A
n.2403C>A
c.6965C>A (p.Thr2322Asn)
 dbSNP gnomAD v2 gnomAD v4
11g.121187855C=CA2004763145TBCEL-TECTA,TECTAc.6023C= (p.Thr2008=)
c.6008C= (p.Thr2003=)
c.3315C=
n.2403C=
c.6965C= (p.Thr2322=)
11g.121187855C>GCA383009576TBCEL-TECTA,TECTAc.6023C>G (p.Thr2008Ser)
c.6008C>G (p.Thr2003Ser)
c.3315C>G
n.2403C>G
c.6965C>G (p.Thr2322Ser)
11g.121187855C>TCA383009577TBCEL-TECTA,TECTAc.6023C>T (p.Thr2008Ile)
c.6008C>T (p.Thr2003Ile)
c.3315C>T
n.2403C>T
c.6965C>T (p.Thr2322Ile)
11g.121187856C>ACA477209048TBCEL-TECTA,TECTAc.6024C>A (p.Thr2008=)
c.6009C>A (p.Thr2003=)
c.3316C>A
n.2404C>A
c.6966C>A (p.Thr2322=)
11g.121187856C>GCA477209049TBCEL-TECTA,TECTAc.6024C>G (p.Thr2008=)
c.6009C>G (p.Thr2003=)
c.3316C>G
n.2404C>G
c.6966C>G (p.Thr2322=)
11g.121187856C>TCA477209051TBCEL-TECTA,TECTAc.6024C>T (p.Thr2008=)
c.6009C>T (p.Thr2003=)
c.3316C>T
n.2404C>T
c.6966C>T (p.Thr2322=)
11g.121187857A=CA2004763146TBCEL-TECTA,TECTAc.6025A= (p.Ile2009=)
c.6010A= (p.Ile2004=)
c.3317A=
n.2405A=
c.6967A= (p.Ile2323=)
11g.121187857A>CCA383009578TBCEL-TECTA,TECTAc.6025A>C (p.Ile2009Leu)
c.6010A>C (p.Ile2004Leu)
c.3317A>C
n.2405A>C
c.6967A>C (p.Ile2323Leu)
11g.121187857A>GCA6327871TBCEL-TECTA,TECTAc.6025A>G (p.Ile2009Val)
c.6010A>G (p.Ile2004Val)
c.3317A>G
n.2405A>G
c.6967A>G (p.Ile2323Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121187857A>TCA383009579TBCEL-TECTA,TECTAc.6025A>T (p.Ile2009Phe)
c.6010A>T (p.Ile2004Phe)
c.3317A>T
n.2405A>T
c.6967A>T (p.Ile2323Phe)
11g.121187858T>ACA383009580TBCEL-TECTA,TECTAc.6026T>A (p.Ile2009Asn)
c.6011T>A (p.Ile2004Asn)
c.3318T>A
n.2406T>A
c.6968T>A (p.Ile2323Asn)
11g.121187858T>CCA383009581TBCEL-TECTA,TECTAc.6026T>C (p.Ile2009Thr)
c.6011T>C (p.Ile2004Thr)
c.3318T>C
n.2406T>C
c.6968T>C (p.Ile2323Thr)
 dbSNP gnomAD v4
11g.121187858T>GCA383009582TBCEL-TECTA,TECTAc.6026T>G (p.Ile2009Ser)
c.6011T>G (p.Ile2004Ser)
c.3318T>G
n.2406T>G
c.6968T>G (p.Ile2323Ser)
11g.121187858T=CA2004763147TBCEL-TECTA,TECTAc.6026T= (p.Ile2009=)
c.6011T= (p.Ile2004=)
c.3318T=
n.2406T=
c.6968T= (p.Ile2323=)
11g.121187859T>ACA477209053TBCEL-TECTA,TECTAc.6027T>A (p.Ile2009=)
c.6012T>A (p.Ile2004=)
c.3319T>A
n.2407T>A
c.6969T>A (p.Ile2323=)
11g.121187859T>CCA477209056TBCEL-TECTA,TECTAc.6027T>C (p.Ile2009=)
c.6012T>C (p.Ile2004=)
c.3319T>C
n.2407T>C
c.6969T>C (p.Ile2323=)
11g.121187859T>GCA383009583TBCEL-TECTA,TECTAc.6027T>G (p.Ile2009Met)
c.6012T>G (p.Ile2004Met)
c.3319T>G
n.2407T>G
c.6969T>G (p.Ile2323Met)
11g.121187860G>ACA383009585TBCEL-TECTA,TECTAc.6028G>A (p.Gly2010Ser)
c.6013G>A (p.Gly2005Ser)
c.3320G>A
n.2408G>A
c.6970G>A (p.Gly2324Ser)
 dbSNP gnomAD v4
11g.121187860G>CCA383009586TBCEL-TECTA,TECTAc.6028G>C (p.Gly2010Arg)
c.6013G>C (p.Gly2005Arg)
c.3320G>C
n.2408G>C
c.6970G>C (p.Gly2324Arg)
11g.121187860G=CA2004763148TBCEL-TECTA,TECTAc.6028G= (p.Gly2010=)
c.6013G= (p.Gly2005=)
c.3320G=
n.2408G=
c.6970G= (p.Gly2324=)
11g.121187860G>TCA383009584TBCEL-TECTA,TECTAc.6028G>T (p.Gly2010Cys)
c.6013G>T (p.Gly2005Cys)
c.3320G>T
n.2408G>T
c.6970G>T (p.Gly2324Cys)
11g.121187861G>ACA229828334TBCEL-TECTA,TECTAc.6029G>A (p.Gly2010Asp)
c.6014G>A (p.Gly2005Asp)
c.3321G>A
n.2409G>A
c.6971G>A (p.Gly2324Asp)
 dbSNP gnomAD v2 gnomAD v4
11g.121187861G>CCA383009587TBCEL-TECTA,TECTAc.6029G>C (p.Gly2010Ala)
c.6014G>C (p.Gly2005Ala)
c.3321G>C
n.2409G>C
c.6971G>C (p.Gly2324Ala)
11g.121187861G=CA2004763149TBCEL-TECTA,TECTAc.6029G= (p.Gly2010=)
c.6014G= (p.Gly2005=)
c.3321G=
n.2409G=
c.6971G= (p.Gly2324=)
11g.121187861G>TCA383009588TBCEL-TECTA,TECTAc.6029G>T (p.Gly2010Val)
c.6014G>T (p.Gly2005Val)
c.3321G>T
n.2409G>T
c.6971G>T (p.Gly2324Val)
11g.121187862C>ACA477209059TBCEL-TECTA,TECTAc.6030C>A (p.Gly2010=)
c.6015C>A (p.Gly2005=)
c.3322C>A
n.2410C>A
c.6972C>A (p.Gly2324=)
11g.121187862C>GCA477209061TBCEL-TECTA,TECTAc.6030C>G (p.Gly2010=)
c.6015C>G (p.Gly2005=)
c.3322C>G
n.2410C>G
c.6972C>G (p.Gly2324=)
11g.121187862C>TCA477209062TBCEL-TECTA,TECTAc.6030C>T (p.Gly2010=)
c.6015C>T (p.Gly2005=)
c.3322C>T
n.2410C>T
c.6972C>T (p.Gly2324=)
 gnomAD v4
11g.121187863A=CA2004763150TBCEL-TECTA,TECTAc.6031A= (p.Ile2011=)
c.6016A= (p.Ile2006=)
c.3323A=
n.2411A=
c.6973A= (p.Ile2325=)
11g.121187863A>CCA383009589TBCEL-TECTA,TECTAc.6031A>C (p.Ile2011Leu)
c.6016A>C (p.Ile2006Leu)
c.3323A>C
n.2411A>C
c.6973A>C (p.Ile2325Leu)
11g.121187863A>GCA383009590TBCEL-TECTA,TECTAc.6031A>G (p.Ile2011Val)
c.6016A>G (p.Ile2006Val)
c.3323A>G
n.2411A>G
c.6973A>G (p.Ile2325Val)
 dbSNP
11g.121187863A>TCA383009591TBCEL-TECTA,TECTAc.6031A>T (p.Ile2011Phe)
c.6016A>T (p.Ile2006Phe)
c.3323A>T
n.2411A>T
c.6973A>T (p.Ile2325Phe)
11g.121187864T>ACA383009592TBCEL-TECTA,TECTAc.6032T>A (p.Ile2011Asn)
c.6017T>A (p.Ile2006Asn)
c.3324T>A
n.2412T>A
c.6974T>A (p.Ile2325Asn)
11g.121187864T>CCA383009593TBCEL-TECTA,TECTAc.6032T>C (p.Ile2011Thr)
c.6017T>C (p.Ile2006Thr)
c.3324T>C
n.2412T>C
c.6974T>C (p.Ile2325Thr)
11g.121187864T>GCA383009594TBCEL-TECTA,TECTAc.6032T>G (p.Ile2011Ser)
c.6017T>G (p.Ile2006Ser)
c.3324T>G
n.2412T>G
c.6974T>G (p.Ile2325Ser)
11g.121187865C>ACA477209063TBCEL-TECTA,TECTAc.6033C>A (p.Ile2011=)
c.6018C>A (p.Ile2006=)
c.3325C>A
n.2413C>A
c.6975C>A (p.Ile2325=)
11g.121187865C=CA2004763151TBCEL-TECTA,TECTAc.6033C= (p.Ile2011=)
c.6018C= (p.Ile2006=)
c.3325C=
n.2413C=
c.6975C= (p.Ile2325=)
11g.121187865C>GCA383009595TBCEL-TECTA,TECTAc.6033C>G (p.Ile2011Met)
c.6018C>G (p.Ile2006Met)
c.3325C>G
n.2413C>G
c.6975C>G (p.Ile2325Met)
 gnomAD v4
11g.121187865C>TCA477209064TBCEL-TECTA,TECTAc.6033C>T (p.Ile2011=)
c.6018C>T (p.Ile2006=)
c.3325C>T
n.2413C>T
c.6975C>T (p.Ile2325=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.121187866G>ACA6327872TBCEL-TECTA,TECTAc.6034G>A (p.Glu2012Lys)
c.6019G>A (p.Glu2007Lys)
c.3326G>A
n.2414G>A
c.6976G>A (p.Glu2326Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121187866G>CCA383009596TBCEL-TECTA,TECTAc.6034G>C (p.Glu2012Gln)
c.6019G>C (p.Glu2007Gln)
c.3326G>C
n.2414G>C
c.6976G>C (p.Glu2326Gln)
11g.121187866G=CA2004763152TBCEL-TECTA,TECTAc.6034G= (p.Glu2012=)
c.6019G= (p.Glu2007=)
c.3326G=
n.2414G=
c.6976G= (p.Glu2326=)
11g.121187866G>TCA383009597TBCEL-TECTA,TECTAc.6034G>T (p.Glu2012Ter)
c.6019G>T (p.Glu2007Ter)
c.3326G>T
n.2414G>T
c.6976G>T (p.Glu2326Ter)
11g.121187867A>CCA383009600TBCEL-TECTA,TECTAc.6035A>C (p.Glu2012Ala)
c.6020A>C (p.Glu2007Ala)
c.3327A>C
n.2415A>C
c.6977A>C (p.Glu2326Ala)
11g.121187867A>GCA383009599TBCEL-TECTA,TECTAc.6035A>G (p.Glu2012Gly)
c.6020A>G (p.Glu2007Gly)
c.3327A>G
n.2415A>G
c.6977A>G (p.Glu2326Gly)
11g.121187867A>TCA383009598TBCEL-TECTA,TECTAc.6035A>T (p.Glu2012Val)
c.6020A>T (p.Glu2007Val)
c.3327A>T
n.2415A>T
c.6977A>T (p.Glu2326Val)
11g.121187867_121187868delinsAGCA2004763153TBCEL-TECTA,TECTAc.6035_6036delinsAG (p.Glu2012=)
c.6020_6021delinsAG (p.Glu2007=)
c.3327_3328delinsAG
n.2415_2416delinsAG
c.6977_6978delinsAG (p.Glu2326=)
11g.121187868G>ACA477209066TBCEL-TECTA,TECTAc.6036G>A (p.Glu2012=)
c.6021G>A (p.Glu2007=)
c.3328G>A
n.2416G>A
c.6978G>A (p.Glu2326=)
 dbSNP gnomAD v2 gnomAD v4
11g.121187868G>CCA383009601TBCEL-TECTA,TECTAc.6036G>C (p.Glu2012Asp)
c.6021G>C (p.Glu2007Asp)
c.3328G>C
n.2416G>C
c.6978G>C (p.Glu2326Asp)
11g.121187868G=CA2004763154TBCEL-TECTA,TECTAc.6036G= (p.Glu2012=)
c.6021G= (p.Glu2007=)
c.3328G=
n.2416G=
c.6978G= (p.Glu2326=)
11g.121187868G>TCA383009602TBCEL-TECTA,TECTAc.6036G>T (p.Glu2012Asp)
c.6021G>T (p.Glu2007Asp)
c.3328G>T
n.2416G>T
c.6978G>T (p.Glu2326Asp)
11g.121187869delCA602580375TBCEL-TECTA,TECTAc.6037del (p.Glu2013ArgfsTer6)
c.6022del (p.Glu2008ArgfsTer6)
c.3329del
n.2417del
c.6979del (p.Glu2327ArgfsTer6)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.121187869G>ACA383009603TBCEL-TECTA,TECTAc.6037G>A (p.Glu2013Lys)
c.6022G>A (p.Glu2008Lys)
c.3329G>A
n.2417G>A
c.6979G>A (p.Glu2327Lys)
 gnomAD v4
11g.121187869G>CCA383009604TBCEL-TECTA,TECTAc.6037G>C (p.Glu2013Gln)
c.6022G>C (p.Glu2008Gln)
c.3329G>C
n.2417G>C
c.6979G>C (p.Glu2327Gln)
11g.121187869G>TCA383009605TBCEL-TECTA,TECTAc.6037G>T (p.Glu2013Ter)
c.6022G>T (p.Glu2008Ter)
c.3329G>T
n.2417G>T
c.6979G>T (p.Glu2327Ter)
11g.121187870A>CCA383009606TBCEL-TECTA,TECTAc.6038A>C (p.Glu2013Ala)
c.6023A>C (p.Glu2008Ala)
c.3330A>C
n.2418A>C
c.6980A>C (p.Glu2327Ala)
11g.121187870A>GCA383009607TBCEL-TECTA,TECTAc.6038A>G (p.Glu2013Gly)
c.6023A>G (p.Glu2008Gly)
c.3330A>G
n.2418A>G
c.6980A>G (p.Glu2327Gly)
 gnomAD v4
11g.121187870A>TCA383009608TBCEL-TECTA,TECTAc.6038A>T (p.Glu2013Val)
c.6023A>T (p.Glu2008Val)
c.3330A>T
n.2418A>T
c.6980A>T (p.Glu2327Val)
11g.121187871G>ACA477209070TBCEL-TECTA,TECTAc.6039G>A (p.Glu2013=)
c.6024G>A (p.Glu2008=)
c.3331G>A
n.2419G>A
c.6981G>A (p.Glu2327=)
11g.121187871G>CCA383009609TBCEL-TECTA,TECTAc.6039G>C (p.Glu2013Asp)
c.6024G>C (p.Glu2008Asp)
c.3331G>C
n.2419G>C
c.6981G>C (p.Glu2327Asp)
11g.121187871G>TCA383009610TBCEL-TECTA,TECTAc.6039G>T (p.Glu2013Asp)
c.6024G>T (p.Glu2008Asp)
c.3331G>T
n.2419G>T
c.6981G>T (p.Glu2327Asp)
11g.121187872A>CCA383009611TBCEL-TECTA,TECTAc.6040A>C (p.Asn2014His)
c.6025A>C (p.Asn2009His)
c.3332A>C
n.2420A>C
c.6982A>C (p.Asn2328His)
11g.121187872A>GCA383009612TBCEL-TECTA,TECTAc.6040A>G (p.Asn2014Asp)
c.6025A>G (p.Asn2009Asp)
c.3332A>G
n.2420A>G
c.6982A>G (p.Asn2328Asp)
11g.121187872A>TCA383009613TBCEL-TECTA,TECTAc.6040A>T (p.Asn2014Tyr)
c.6025A>T (p.Asn2009Tyr)
c.3332A>T
n.2420A>T
c.6982A>T (p.Asn2328Tyr)
11g.121187873A>CCA383009614TBCEL-TECTA,TECTAc.6041A>C (p.Asn2014Thr)
c.6026A>C (p.Asn2009Thr)
c.3333A>C
n.2421A>C
c.6983A>C (p.Asn2328Thr)
11g.121187873A>GCA383009616TBCEL-TECTA,TECTAc.6041A>G (p.Asn2014Ser)
c.6026A>G (p.Asn2009Ser)
c.3333A>G
n.2421A>G
c.6983A>G (p.Asn2328Ser)
11g.121187873A>TCA383009615TBCEL-TECTA,TECTAc.6041A>T (p.Asn2014Ile)
c.6026A>T (p.Asn2009Ile)
c.3333A>T
n.2421A>T
c.6983A>T (p.Asn2328Ile)
11g.121187874T>ACA383009617TBCEL-TECTA,TECTAc.6042T>A (p.Asn2014Lys)
c.6027T>A (p.Asn2009Lys)
c.3334T>A
n.2422T>A
c.6984T>A (p.Asn2328Lys)
11g.121187874T>CCA477209074TBCEL-TECTA,TECTAc.6042T>C (p.Asn2014=)
c.6027T>C (p.Asn2009=)
c.3334T>C
n.2422T>C
c.6984T>C (p.Asn2328=)
 dbSNP gnomAD v4
11g.121187874T>GCA383009618TBCEL-TECTA,TECTAc.6042T>G (p.Asn2014Lys)
c.6027T>G (p.Asn2009Lys)
c.3334T>G
n.2422T>G
c.6984T>G (p.Asn2328Lys)
11g.121187874T=CA2004763155TBCEL-TECTA,TECTAc.6042T= (p.Asn2014=)
c.6027T= (p.Asn2009=)
c.3334T=
n.2422T=
c.6984T= (p.Asn2328=)
11g.121187875G>ACA383009619TBCEL-TECTA,TECTAc.6043G>A (p.Ala2015Thr)
c.6028G>A (p.Ala2010Thr)
c.3335G>A
n.2423G>A
c.6985G>A (p.Ala2329Thr)
11g.121187875G>CCA383009621TBCEL-TECTA,TECTAc.6043G>C (p.Ala2015Pro)
c.6028G>C (p.Ala2010Pro)
c.3335G>C
n.2423G>C
c.6985G>C (p.Ala2329Pro)
 ClinVar
11g.121187875G>TCA383009620TBCEL-TECTA,TECTAc.6043G>T (p.Ala2015Ser)
c.6028G>T (p.Ala2010Ser)
c.3335G>T
n.2423G>T
c.6985G>T (p.Ala2329Ser)
11g.121187876C>ACA383009622TBCEL-TECTA,TECTAc.6044C>A (p.Ala2015Glu)
c.6029C>A (p.Ala2010Glu)
c.3336C>A
n.2424C>A
c.6986C>A (p.Ala2329Glu)
11g.121187876C>GCA383009623TBCEL-TECTA,TECTAc.6044C>G (p.Ala2015Gly)
c.6029C>G (p.Ala2010Gly)
c.3336C>G
n.2424C>G
c.6986C>G (p.Ala2329Gly)
11g.121187876C>TCA383009624TBCEL-TECTA,TECTAc.6044C>T (p.Ala2015Val)
c.6029C>T (p.Ala2010Val)
c.3336C>T
n.2424C>T
c.6986C>T (p.Ala2329Val)
11g.121187877A>CCA477209075TBCEL-TECTA,TECTAc.6045A>C (p.Ala2015=)
c.6030A>C (p.Ala2010=)
c.3337A>C
n.2425A>C
c.6987A>C (p.Ala2329=)
11g.121187877A>GCA477209076TBCEL-TECTA,TECTAc.6045A>G (p.Ala2015=)
c.6030A>G (p.Ala2010=)
c.3337A>G
n.2425A>G
c.6987A>G (p.Ala2329=)
11g.121187877A>TCA477209077TBCEL-TECTA,TECTAc.6045A>T (p.Ala2015=)
c.6030A>T (p.Ala2010=)
c.3337A>T
n.2425A>T
c.6987A>T (p.Ala2329=)
11g.121187878G>ACA6327873TBCEL-TECTA,TECTAc.6046G>A (p.Val2016Ile)
c.6031G>A (p.Val2011Ile)
c.3338G>A
n.2426G>A
c.6988G>A (p.Val2330Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121187878G>CCA383009625TBCEL-TECTA,TECTAc.6046G>C (p.Val2016Leu)
c.6031G>C (p.Val2011Leu)
c.3338G>C
n.2426G>C
c.6988G>C (p.Val2330Leu)
11g.121187878G=CA2004763156TBCEL-TECTA,TECTAc.6046G= (p.Val2016=)
c.6031G= (p.Val2011=)
c.3338G=
n.2426G=
c.6988G= (p.Val2330=)
11g.121187878G>TCA383009626TBCEL-TECTA,TECTAc.6046G>T (p.Val2016Phe)
c.6031G>T (p.Val2011Phe)
c.3338G>T
n.2426G>T
c.6988G>T (p.Val2330Phe)
11g.121187879T>ACA383009627TBCEL-TECTA,TECTAc.6047T>A (p.Val2016Asp)
c.6032T>A (p.Val2011Asp)
c.3339T>A
n.2427T>A
c.6989T>A (p.Val2330Asp)
11g.121187879T>CCA383009628TBCEL-TECTA,TECTAc.6047T>C (p.Val2016Ala)
c.6032T>C (p.Val2011Ala)
c.3339T>C
n.2427T>C
c.6989T>C (p.Val2330Ala)
11g.121187879T>GCA383009629TBCEL-TECTA,TECTAc.6047T>G (p.Val2016Gly)
c.6032T>G (p.Val2011Gly)
c.3339T>G
n.2427T>G
c.6989T>G (p.Val2330Gly)
11g.121187880C>ACA477209084TBCEL-TECTA,TECTAc.6048C>A (p.Val2016=)
c.6033C>A (p.Val2011=)
c.3340C>A
n.2428C>A
c.6990C>A (p.Val2330=)
11g.121187880C>GCA477209083TBCEL-TECTA,TECTAc.6048C>G (p.Val2016=)
c.6033C>G (p.Val2011=)
c.3340C>G
n.2428C>G
c.6990C>G (p.Val2330=)
11g.121187880C>TCA477209082TBCEL-TECTA,TECTAc.6048C>T (p.Val2016=)
c.6033C>T (p.Val2011=)
c.3340C>T
n.2428C>T
c.6990C>T (p.Val2330=)
11g.121187881T>ACA383009630TBCEL-TECTA,TECTAc.6049T>A (p.Ser2017Thr)
c.6034T>A (p.Ser2012Thr)
c.3341T>A
n.2429T>A
c.6991T>A (p.Ser2331Thr)
11g.121187881T>CCA383009631TBCEL-TECTA,TECTAc.6049T>C (p.Ser2017Pro)
c.6034T>C (p.Ser2012Pro)
c.3341T>C
n.2429T>C
c.6991T>C (p.Ser2331Pro)
11g.121187881T>GCA383009632TBCEL-TECTA,TECTAc.6049T>G (p.Ser2017Ala)
c.6034T>G (p.Ser2012Ala)
c.3341T>G
n.2429T>G
c.6991T>G (p.Ser2331Ala)
11g.121187882C>ACA383009635TBCEL-TECTA,TECTAc.6050C>A (p.Ser2017Tyr)
c.6035C>A (p.Ser2012Tyr)
c.3342C>A
n.2430C>A
c.6992C>A (p.Ser2331Tyr)
11g.121187882C>GCA383009633TBCEL-TECTA,TECTAc.6050C>G (p.Ser2017Cys)
c.6035C>G (p.Ser2012Cys)
c.3342C>G
n.2430C>G
c.6992C>G (p.Ser2331Cys)
11g.121187882C>TCA383009634TBCEL-TECTA,TECTAc.6050C>T (p.Ser2017Phe)
c.6035C>T (p.Ser2012Phe)
c.3342C>T
n.2430C>T
c.6992C>T (p.Ser2331Phe)
 COSMIC
11g.121187883C>ACA477209091TBCEL-TECTA,TECTAc.6051C>A (p.Ser2017=)
c.6036C>A (p.Ser2012=)
c.3343C>A
n.2431C>A
c.6993C>A (p.Ser2331=)
11g.121187883C=CA2004763157TBCEL-TECTA,TECTAc.6051C= (p.Ser2017=)
c.6036C= (p.Ser2012=)
c.3343C=
n.2431C=
c.6993C= (p.Ser2331=)
11g.121187883C>GCA477209097TBCEL-TECTA,TECTAc.6051C>G (p.Ser2017=)
c.6036C>G (p.Ser2012=)
c.3343C>G
n.2431C>G
c.6993C>G (p.Ser2331=)
11g.121187883C>TCA6327874TBCEL-TECTA,TECTAc.6051C>T (p.Ser2017=)
c.6036C>T (p.Ser2012=)
c.3343C>T
n.2431C>T
c.6993C>T (p.Ser2331=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121187884C>ACA383009636TBCEL-TECTA,TECTAc.6052C>A (p.Leu2018Met)
c.6037C>A (p.Leu2013Met)
c.3344C>A
n.2432C>A
c.6994C>A (p.Leu2332Met)
11g.121187884C=CA2004763158TBCEL-TECTA,TECTAc.6052C= (p.Leu2018=)
c.6037C= (p.Leu2013=)
c.3344C=
n.2432C=
c.6994C= (p.Leu2332=)
11g.121187884C>GCA383009637TBCEL-TECTA,TECTAc.6052C>G (p.Leu2018Val)
c.6037C>G (p.Leu2013Val)
c.3344C>G
n.2432C>G
c.6994C>G (p.Leu2332Val)
11g.121187884C>TCA229828346TBCEL-TECTA,TECTAc.6052C>T (p.Leu2018=)
c.6037C>T (p.Leu2013=)
c.3344C>T
n.2432C>T
c.6994C>T (p.Leu2332=)
 dbSNP
11g.121187885T>ACA383009638TBCEL-TECTA,TECTAc.6053T>A (p.Leu2018Gln)
c.6038T>A (p.Leu2013Gln)
c.3345T>A
n.2433T>A
c.6995T>A (p.Leu2332Gln)
11g.121187885T>CCA383009639TBCEL-TECTA,TECTAc.6053T>C (p.Leu2018Pro)
c.6038T>C (p.Leu2013Pro)
c.3345T>C
n.2433T>C
c.6995T>C (p.Leu2332Pro)
11g.121187885T>GCA383009640TBCEL-TECTA,TECTAc.6053T>G (p.Leu2018Arg)
c.6038T>G (p.Leu2013Arg)
c.3345T>G
n.2433T>G
c.6995T>G (p.Leu2332Arg)
11g.121187886G>ACA477209100TBCEL-TECTA,TECTAc.6054G>A (p.Leu2018=)
c.6039G>A (p.Leu2013=)
c.3346G>A
n.2434G>A
c.6996G>A (p.Leu2332=)
11g.121187886G>CCA477209102TBCEL-TECTA,TECTAc.6054G>C (p.Leu2018=)
c.6039G>C (p.Leu2013=)
c.3346G>C
n.2434G>C
c.6996G>C (p.Leu2332=)
11g.121187886G>TCA477209101TBCEL-TECTA,TECTAc.6054G>T (p.Leu2018=)
c.6039G>T (p.Leu2013=)
c.3346G>T
n.2434G>T
c.6996G>T (p.Leu2332=)
11g.121187887A=CA2004763159TBCEL-TECTA,TECTAc.6055A= (p.Thr2019=)
c.6040A= (p.Thr2014=)
c.3347A=
n.2435A=
c.6997A= (p.Thr2333=)
11g.121187887A>CCA383009641TBCEL-TECTA,TECTAc.6055A>C (p.Thr2019Pro)
c.6040A>C (p.Thr2014Pro)
c.3347A>C
n.2435A>C
c.6997A>C (p.Thr2333Pro)
11g.121187887A>GCA229828355TBCEL-TECTA,TECTAc.6055A>G (p.Thr2019Ala)
c.6040A>G (p.Thr2014Ala)
c.3347A>G
n.2435A>G
c.6997A>G (p.Thr2333Ala)
 dbSNP
11g.121187887A>TCA383009642TBCEL-TECTA,TECTAc.6055A>T (p.Thr2019Ser)
c.6040A>T (p.Thr2014Ser)
c.3347A>T
n.2435A>T
c.6997A>T (p.Thr2333Ser)
11g.121187888C>ACA383009645TBCEL-TECTA,TECTAc.6056C>A (p.Thr2019Asn)
c.6041C>A (p.Thr2014Asn)
c.3348C>A
n.2436C>A
c.6998C>A (p.Thr2333Asn)
11g.121187888C>GCA383009644TBCEL-TECTA,TECTAc.6056C>G (p.Thr2019Ser)
c.6041C>G (p.Thr2014Ser)
c.3348C>G
n.2436C>G
c.6998C>G (p.Thr2333Ser)
11g.121187888C>TCA383009643TBCEL-TECTA,TECTAc.6056C>T (p.Thr2019Ile)
c.6041C>T (p.Thr2014Ile)
c.3348C>T
n.2436C>T
c.6998C>T (p.Thr2333Ile)
11g.121187889delCA2499220809TBCEL-TECTA,TECTAc.6057del (p.Cys2020ValfsTer11)
c.6042del (p.Cys2015ValfsTer11)
c.3349del
n.2437del
c.6999del (p.Cys2334ValfsTer11)
 ClinVar dbSNP gnomAD v4
11g.121187889C>ACA477209103TBCEL-TECTA,TECTAc.6057C>A (p.Thr2019=)
c.6042C>A (p.Thr2014=)
c.3349C>A
n.2437C>A
c.6999C>A (p.Thr2333=)
11g.121187889C>GCA477209105TBCEL-TECTA,TECTAc.6057C>G (p.Thr2019=)
c.6042C>G (p.Thr2014=)
c.3349C>G
n.2437C>G
c.6999C>G (p.Thr2333=)
11g.121187889C>TCA477209107TBCEL-TECTA,TECTAc.6057C>T (p.Thr2019=)
c.6042C>T (p.Thr2014=)
c.3349C>T
n.2437C>T
c.6999C>T (p.Thr2333=)
11g.121187890T>ACA383009646TBCEL-TECTA,TECTAc.6058T>A (p.Cys2020Ser)
c.6043T>A (p.Cys2015Ser)
c.3350T>A
n.2438T>A
c.7000T>A (p.Cys2334Ser)
11g.121187890T>CCA383009647TBCEL-TECTA,TECTAc.6058T>C (p.Cys2020Arg)
c.6043T>C (p.Cys2015Arg)
c.3350T>C
n.2438T>C
c.7000T>C (p.Cys2334Arg)
11g.121187890T>GCA383009648TBCEL-TECTA,TECTAc.6058T>G (p.Cys2020Gly)
c.6043T>G (p.Cys2015Gly)
c.3350T>G
n.2438T>G
c.7000T>G (p.Cys2334Gly)
11g.121187891G>ACA383009649TBCEL-TECTA,TECTAc.6059G>A (p.Cys2020Tyr)
c.6044G>A (p.Cys2015Tyr)
c.3351G>A
n.2439G>A
c.7001G>A (p.Cys2334Tyr)
11g.121187891G>CCA383009650TBCEL-TECTA,TECTAc.6059G>C (p.Cys2020Ser)
c.6044G>C (p.Cys2015Ser)
c.3351G>C
n.2439G>C
c.7001G>C (p.Cys2334Ser)
11g.121187891G>TCA383009651TBCEL-TECTA,TECTAc.6059G>T (p.Cys2020Phe)
c.6044G>T (p.Cys2015Phe)
c.3351G>T
n.2439G>T
c.7001G>T (p.Cys2334Phe)
11g.121187892T>ACA383009653TBCEL-TECTA,TECTAc.6060T>A (p.Cys2020Ter)
c.6045T>A (p.Cys2015Ter)
c.3352T>A
n.2440T>A
c.7002T>A (p.Cys2334Ter)
11g.121187892T>CCA477209111TBCEL-TECTA,TECTAc.6060T>C (p.Cys2020=)
c.6045T>C (p.Cys2015=)
c.3352T>C
n.2440T>C
c.7002T>C (p.Cys2334=)
 gnomAD v4
11g.121187892T>GCA383009652TBCEL-TECTA,TECTAc.6060T>G (p.Cys2020Trp)
c.6045T>G (p.Cys2015Trp)
c.3352T>G
n.2440T>G
c.7002T>G (p.Cys2334Trp)
11g.121187893C>ACA383009654TBCEL-TECTA,TECTAc.6061C>A (p.Arg2021Ser)
c.6046C>A (p.Arg2016Ser)
c.3353C>A
n.2441C>A
c.7003C>A (p.Arg2335Ser)
11g.121187893C=CA2004763160TBCEL-TECTA,TECTAc.6061C= (p.Arg2021=)
c.6046C= (p.Arg2016=)
c.3353C=
n.2441C=
c.7003C= (p.Arg2335=)
11g.121187893C>GCA383009655TBCEL-TECTA,TECTAc.6061C>G (p.Arg2021Gly)
c.6046C>G (p.Arg2016Gly)
c.3353C>G
n.2441C>G
c.7003C>G (p.Arg2335Gly)
11g.121187893C>TCA383009656TBCEL-TECTA,TECTAc.6061C>T (p.Arg2021Cys)
c.6046C>T (p.Arg2016Cys)
c.3353C>T
n.2441C>T
c.7003C>T (p.Arg2335Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.121187894G>ACA254070TBCEL-TECTA,TECTAc.6062G>A (p.Arg2021His)
c.6047G>A (p.Arg2016His)
c.3354G>A
n.2442G>A
c.7004G>A (p.Arg2335His)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.121187894G>CCA383009657TBCEL-TECTA,TECTAc.6062G>C (p.Arg2021Pro)
c.6047G>C (p.Arg2016Pro)
c.3354G>C
n.2442G>C
c.7004G>C (p.Arg2335Pro)
11g.121187894G=CA2004763161TBCEL-TECTA,TECTAc.6062G= (p.Arg2021=)
c.6047G= (p.Arg2016=)
c.3354G=
n.2442G=
c.7004G= (p.Arg2335=)
11g.121187894G>TCA383009658TBCEL-TECTA,TECTAc.6062G>T (p.Arg2021Leu)
c.6047G>T (p.Arg2016Leu)
c.3354G>T
n.2442G>T
c.7004G>T (p.Arg2335Leu)
11g.121187895C>ACA477209120TBCEL-TECTA,TECTAc.6063C>A (p.Arg2021=)
c.6048C>A (p.Arg2016=)
c.3355C>A
n.2443C>A
c.7005C>A (p.Arg2335=)
11g.121187895C>GCA477209121TBCEL-TECTA,TECTAc.6063C>G (p.Arg2021=)
c.6048C>G (p.Arg2016=)
c.3355C>G
n.2443C>G
c.7005C>G (p.Arg2335=)
11g.121187895C>TCA477209122TBCEL-TECTA,TECTAc.6063C>T (p.Arg2021=)
c.6048C>T (p.Arg2016=)
c.3355C>T
n.2443C>T
c.7005C>T (p.Arg2335=)
 dbSNP gnomAD v4
11g.121187896T>ACA383009659TBCEL-TECTA,TECTAc.6064T>A (p.Phe2022Ile)
c.6049T>A (p.Phe2017Ile)
c.3356T>A
n.2444T>A
c.7006T>A (p.Phe2336Ile)
11g.121187896T>CCA383009661TBCEL-TECTA,TECTAc.6064T>C (p.Phe2022Leu)
c.6049T>C (p.Phe2017Leu)
c.3356T>C
n.2444T>C
c.7006T>C (p.Phe2336Leu)
11g.121187896T>GCA383009660TBCEL-TECTA,TECTAc.6064T>G (p.Phe2022Val)
c.6049T>G (p.Phe2017Val)
c.3356T>G
n.2444T>G
c.7006T>G (p.Phe2336Val)
11g.121187897T>ACA383009662TBCEL-TECTA,TECTAc.6065T>A (p.Phe2022Tyr)
c.6050T>A (p.Phe2017Tyr)
c.3357T>A
n.2445T>A
c.7007T>A (p.Phe2336Tyr)
11g.121187897T>CCA383009663TBCEL-TECTA,TECTAc.6065T>C (p.Phe2022Ser)
c.6050T>C (p.Phe2017Ser)
c.3357T>C
n.2445T>C
c.7007T>C (p.Phe2336Ser)
11g.121187897T>GCA383009664TBCEL-TECTA,TECTAc.6065T>G (p.Phe2022Cys)
c.6050T>G (p.Phe2017Cys)
c.3357T>G
n.2445T>G
c.7007T>G (p.Phe2336Cys)
11g.121187898T>ACA383009665TBCEL-TECTA,TECTAc.6066T>A (p.Phe2022Leu)
c.6051T>A (p.Phe2017Leu)
c.3358T>A
n.2446T>A
c.7008T>A (p.Phe2336Leu)
11g.121187898T>CCA477209132TBCEL-TECTA,TECTAc.6066T>C (p.Phe2022=)
c.6051T>C (p.Phe2017=)
c.3358T>C
n.2446T>C
c.7008T>C (p.Phe2336=)
11g.121187898T>GCA383009666TBCEL-TECTA,TECTAc.6066T>G (p.Phe2022Leu)
c.6051T>G (p.Phe2017Leu)
c.3358T>G
n.2446T>G
c.7008T>G (p.Phe2336Leu)
11g.121187899C>ACA383009667TBCEL-TECTA,TECTAc.6067C>A (p.His2023Asn)
c.6052C>A (p.His2018Asn)
c.3359C>A
n.2447C>A
c.7009C>A (p.His2337Asn)
11g.121187899C>GCA383009668TBCEL-TECTA,TECTAc.6067C>G (p.His2023Asp)
c.6052C>G (p.His2018Asp)
c.3359C>G
n.2447C>G
c.7009C>G (p.His2337Asp)
11g.121187899C>TCA383009669TBCEL-TECTA,TECTAc.6067C>T (p.His2023Tyr)
c.6052C>T (p.His2018Tyr)
c.3359C>T
n.2447C>T
c.7009C>T (p.His2337Tyr)
11g.121187900A>CCA383009670TBCEL-TECTA,TECTAc.6068A>C (p.His2023Pro)
c.6053A>C (p.His2018Pro)
c.3360A>C
n.2448A>C
c.7010A>C (p.His2337Pro)
11g.121187900A>GCA383009671TBCEL-TECTA,TECTAc.6068A>G (p.His2023Arg)
c.6053A>G (p.His2018Arg)
c.3360A>G
n.2448A>G
c.7010A>G (p.His2337Arg)
11g.121187900A>TCA383009672TBCEL-TECTA,TECTAc.6068A>T (p.His2023Leu)
c.6053A>T (p.His2018Leu)
c.3360A>T
n.2448A>T
c.7010A>T (p.His2337Leu)
11g.121187901C>ACA383009674TBCEL-TECTA,TECTAc.6069C>A (p.His2023Gln)
c.6054C>A (p.His2018Gln)
c.3361C>A
n.2449C>A
c.7011C>A (p.His2337Gln)
11g.121187901C=CA2004763162TBCEL-TECTA,TECTAc.6069C= (p.His2023=)
c.6054C= (p.His2018=)
c.3361C=
n.2449C=
c.7011C= (p.His2337=)
11g.121187901C>GCA383009673TBCEL-TECTA,TECTAc.6069C>G (p.His2023Gln)
c.6054C>G (p.His2018Gln)
c.3361C>G
n.2449C>G
c.7011C>G (p.His2337Gln)
 dbSNP
11g.121187901C>TCA6327875TBCEL-TECTA,TECTAc.6069C>T (p.His2023=)
c.6054C>T (p.His2018=)
c.3361C>T
n.2449C>T
c.7011C>T (p.His2337=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121187902G>ACA6327876TBCEL-TECTA,TECTAc.6070G>A (p.Val2024Ile)
c.6055G>A (p.Val2019Ile)
c.3362G>A
n.2450G>A
c.7012G>A (p.Val2338Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121187902G>CCA383009675TBCEL-TECTA,TECTAc.6070G>C (p.Val2024Leu)
c.6055G>C (p.Val2019Leu)
c.3362G>C
n.2450G>C
c.7012G>C (p.Val2338Leu)
11g.121187902G=CA2004763163TBCEL-TECTA,TECTAc.6070G= (p.Val2024=)
c.6055G= (p.Val2019=)
c.3362G=
n.2450G=
c.7012G= (p.Val2338=)
11g.121187902G>TCA383009676TBCEL-TECTA,TECTAc.6070G>T (p.Val2024Phe)
c.6055G>T (p.Val2019Phe)
c.3362G>T
n.2450G>T
c.7012G>T (p.Val2338Phe)
 gnomAD v4
11g.121187903T>ACA383009677TBCEL-TECTA,TECTAc.6071T>A (p.Val2024Asp)
c.6056T>A (p.Val2019Asp)
c.3363T>A
n.2451T>A
c.7013T>A (p.Val2338Asp)
11g.121187903T>CCA383009678TBCEL-TECTA,TECTAc.6071T>C (p.Val2024Ala)
c.6056T>C (p.Val2019Ala)
c.3363T>C
n.2451T>C
c.7013T>C (p.Val2338Ala)
11g.121187903T>GCA383009679TBCEL-TECTA,TECTAc.6071T>G (p.Val2024Gly)
c.6056T>G (p.Val2019Gly)
c.3363T>G
n.2451T>G
c.7013T>G (p.Val2338Gly)
11g.121187904C>ACA477209136TBCEL-TECTA,TECTAc.6072C>A (p.Val2024=)
c.6057C>A (p.Val2019=)
c.3364C>A
n.2452C>A
c.7014C>A (p.Val2338=)
11g.121187904C>GCA477209137TBCEL-TECTA,TECTAc.6072C>G (p.Val2024=)
c.6057C>G (p.Val2019=)
c.3364C>G
n.2452C>G
c.7014C>G (p.Val2338=)
11g.121187904C>TCA477209139TBCEL-TECTA,TECTAc.6072C>T (p.Val2024=)
c.6057C>T (p.Val2019=)
c.3364C>T
n.2452C>T
c.7014C>T (p.Val2338=)
11g.121187905A>CCA383009680TBCEL-TECTA,TECTAc.6073A>C (p.Thr2025Pro)
c.6058A>C (p.Thr2020Pro)
c.3365A>C
n.2453A>C
c.7015A>C (p.Thr2339Pro)
11g.121187905A>GCA383009681TBCEL-TECTA,TECTAc.6073A>G (p.Thr2025Ala)
c.6058A>G (p.Thr2020Ala)
c.3365A>G
n.2453A>G
c.7015A>G (p.Thr2339Ala)
11g.121187905A>TCA383009682TBCEL-TECTA,TECTAc.6073A>T (p.Thr2025Ser)
c.6058A>T (p.Thr2020Ser)
c.3365A>T
n.2453A>T
c.7015A>T (p.Thr2339Ser)
11g.121187906C>ACA383009683TBCEL-TECTA,TECTAc.6074C>A (p.Thr2025Asn)
c.6059C>A (p.Thr2020Asn)
c.3366C>A
n.2454C>A
c.7016C>A (p.Thr2339Asn)
11g.121187906C>GCA383009684TBCEL-TECTA,TECTAc.6074C>G (p.Thr2025Ser)
c.6059C>G (p.Thr2020Ser)
c.3366C>G
n.2454C>G
c.7016C>G (p.Thr2339Ser)
11g.121187906C>TCA383009685TBCEL-TECTA,TECTAc.6074C>T (p.Thr2025Ile)
c.6059C>T (p.Thr2020Ile)
c.3366C>T
n.2454C>T
c.7016C>T (p.Thr2339Ile)
11g.121187907C>ACA229828391TBCEL-TECTA,TECTAc.6075C>A (p.Thr2025=)
c.6060C>A (p.Thr2020=)
c.3367C>A
n.2455C>A
c.7017C>A (p.Thr2339=)
 dbSNP gnomAD v3 gnomAD v4
11g.121187907C=CA2004763164TBCEL-TECTA,TECTAc.6075C= (p.Thr2025=)
c.6060C= (p.Thr2020=)
c.3367C=
n.2455C=
c.7017C= (p.Thr2339=)
11g.121187907C>GCA477209143TBCEL-TECTA,TECTAc.6075C>G (p.Thr2025=)
c.6060C>G (p.Thr2020=)
c.3367C>G
n.2455C>G
c.7017C>G (p.Thr2339=)
11g.121187907C>TCA6327877TBCEL-TECTA,TECTAc.6075C>T (p.Thr2025=)
c.6060C>T (p.Thr2020=)
c.3367C>T
n.2455C>T
c.7017C>T (p.Thr2339=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.121187908G>ACA6327878TBCEL-TECTA,TECTAc.6076G>A (p.Val2026Ile)
c.6061G>A (p.Val2021Ile)
c.3368G>A
n.2456G>A
c.7018G>A (p.Val2340Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.121187908G>CCA383009687TBCEL-TECTA,TECTAc.6076G>C (p.Val2026Leu)
c.6061G>C (p.Val2021Leu)
c.3368G>C
n.2456G>C
c.7018G>C (p.Val2340Leu)
11g.121187908G=CA2004763165TBCEL-TECTA,TECTAc.6076G= (p.Val2026=)
c.6061G= (p.Val2021=)
c.3368G=
n.2456G=
c.7018G= (p.Val2340=)
11g.121187908G>TCA383009686TBCEL-TECTA,TECTAc.6076G>T (p.Val2026Phe)
c.6061G>T (p.Val2021Phe)
c.3368G>T
n.2456G>T
c.7018G>T (p.Val2340Phe)
11g.121187909T>ACA383009688TBCEL-TECTA,TECTAc.6077T>A (p.Val2026Asp)
c.6062T>A (p.Val2021Asp)
c.3369T>A
n.2457T>A
c.7019T>A (p.Val2340Asp)
11g.121187909T>CCA383009689TBCEL-TECTA,TECTAc.6077T>C (p.Val2026Ala)
c.6062T>C (p.Val2021Ala)
c.3369T>C
n.2457T>C
c.7019T>C (p.Val2340Ala)
11g.121187909T>GCA383009690TBCEL-TECTA,TECTAc.6077T>G (p.Val2026Gly)
c.6062T>G (p.Val2021Gly)
c.3369T>G
n.2457T>G
c.7019T>G (p.Val2340Gly)
11g.121187910C>ACA477209150TBCEL-TECTA,TECTAc.6078C>A (p.Val2026=)
c.6063C>A (p.Val2021=)
c.3370C>A
n.2458C>A
c.7020C>A (p.Val2340=)
11g.121187910C>GCA477209151TBCEL-TECTA,TECTAc.6078C>G (p.Val2026=)
c.6063C>G (p.Val2021=)
c.3370C>G
n.2458C>G
c.7020C>G (p.Val2340=)
11g.121187910C>TCA477209152TBCEL-TECTA,TECTAc.6078C>T (p.Val2026=)
c.6063C>T (p.Val2021=)
c.3370C>T
n.2458C>T
c.7020C>T (p.Val2340=)
 COSMIC
11g.121187910_121187912delinsCTTCA2004763166TBCEL-TECTA,TECTAc.6078_6080delinsCTT (p.Val2026=)
c.6063_6065delinsCTT (p.Val2021=)
c.3370_3372delinsCTT
n.2458_2460delinsCTT
c.7020_7022delinsCTT (p.Val2340=)
11g.121187911T>ACA383009691TBCEL-TECTA,TECTAc.6079T>A (p.Phe2027Ile)
c.6064T>A (p.Phe2022Ile)
c.3371T>A
n.2459T>A
c.7021T>A (p.Phe2341Ile)
11g.121187911T>CCA383009692TBCEL-TECTA,TECTAc.6079T>C (p.Phe2027Leu)
c.6064T>C (p.Phe2022Leu)
c.3371T>C
n.2459T>C
c.7021T>C (p.Phe2341Leu)
11g.121187911T>GCA383009693TBCEL-TECTA,TECTAc.6079T>G (p.Phe2027Val)
c.6064T>G (p.Phe2022Val)
c.3371T>G
n.2459T>G
c.7021T>G (p.Phe2341Val)
11g.121187912_121187913delCA6327879TBCEL-TECTA,TECTAc.6080_6081del (p.Phe2027Ter)
c.6065_6066del (p.Phe2022Ter)
c.3372_3373del
n.2460_2461del
c.7022_7023del (p.Phe2341Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121187912T>ACA383009694TBCEL-TECTA,TECTAc.6080T>A (p.Phe2027Tyr)
c.6065T>A (p.Phe2022Tyr)
c.3372T>A
n.2460T>A
c.7022T>A (p.Phe2341Tyr)
11g.121187912T>CCA383009695TBCEL-TECTA,TECTAc.6080T>C (p.Phe2027Ser)
c.6065T>C (p.Phe2022Ser)
c.3372T>C
n.2460T>C
c.7022T>C (p.Phe2341Ser)
11g.121187912T>GCA383009696TBCEL-TECTA,TECTAc.6080T>G (p.Phe2027Cys)
c.6065T>G (p.Phe2022Cys)
c.3372T>G
n.2460T>G
c.7022T>G (p.Phe2341Cys)
11g.121187913T>ACA383009697TBCEL-TECTA,TECTAc.6081T>A (p.Phe2027Leu)
c.6066T>A (p.Phe2022Leu)
c.3373T>A
n.2461T>A
c.7023T>A (p.Phe2341Leu)
11g.121187913T>CCA477209160TBCEL-TECTA,TECTAc.6081T>C (p.Phe2027=)
c.6066T>C (p.Phe2022=)
c.3373T>C
n.2461T>C
c.7023T>C (p.Phe2341=)
 gnomAD v4
11g.121187913T>GCA383009698TBCEL-TECTA,TECTAc.6081T>G (p.Phe2027Leu)
c.6066T>G (p.Phe2022Leu)
c.3373T>G
n.2461T>G
c.7023T>G (p.Phe2341Leu)
11g.121187914A>CCA383009700TBCEL-TECTA,TECTAc.6082A>C (p.Lys2028Gln)
c.6067A>C (p.Lys2023Gln)
c.3374A>C
n.2462A>C
c.7024A>C (p.Lys2342Gln)
11g.121187914A>GCA383009701TBCEL-TECTA,TECTAc.6082A>G (p.Lys2028Glu)
c.6067A>G (p.Lys2023Glu)
c.3374A>G
n.2462A>G
c.7024A>G (p.Lys2342Glu)
11g.121187914A>TCA383009699TBCEL-TECTA,TECTAc.6082A>T (p.Lys2028Ter)
c.6067A>T (p.Lys2023Ter)
c.3374A>T
n.2462A>T
c.7024A>T (p.Lys2342Ter)
11g.121187915A>CCA383009702TBCEL-TECTA,TECTAc.6083A>C (p.Lys2028Thr)
c.6068A>C (p.Lys2023Thr)
c.3375A>C
n.2463A>C
c.7025A>C (p.Lys2342Thr)
11g.121187915A>GCA383009703TBCEL-TECTA,TECTAc.6083A>G (p.Lys2028Arg)
c.6068A>G (p.Lys2023Arg)
c.3375A>G
n.2463A>G
c.7025A>G (p.Lys2342Arg)
11g.121187915A>TCA383009704TBCEL-TECTA,TECTAc.6083A>T (p.Lys2028Ile)
c.6068A>T (p.Lys2023Ile)
c.3375A>T
n.2463A>T
c.7025A>T (p.Lys2342Ile)
11g.121187916A>CCA383009705TBCEL-TECTA,TECTAc.6084A>C (p.Lys2028Asn)
c.6069A>C (p.Lys2023Asn)
c.3376A>C
n.2464A>C
c.7026A>C (p.Lys2342Asn)
11g.121187916A>GCA477209162TBCEL-TECTA,TECTAc.6084A>G (p.Lys2028=)
c.6069A>G (p.Lys2023=)
c.3376A>G
n.2464A>G
c.7026A>G (p.Lys2342=)
 gnomAD v4
11g.121187916A>TCA383009706TBCEL-TECTA,TECTAc.6084A>T (p.Lys2028Asn)
c.6069A>T (p.Lys2023Asn)
c.3376A>T
n.2464A>T
c.7026A>T (p.Lys2342Asn)
11g.121187917T>ACA383009707TBCEL-TECTA,TECTAc.6085T>A (p.Phe2029Ile)
c.6070T>A (p.Phe2024Ile)
c.3377T>A
n.2465T>A
c.7027T>A (p.Phe2343Ile)
11g.121187917T>CCA383009708TBCEL-TECTA,TECTAc.6085T>C (p.Phe2029Leu)
c.6070T>C (p.Phe2024Leu)
c.3377T>C
n.2465T>C
c.7027T>C (p.Phe2343Leu)
11g.121187917T>GCA383009709TBCEL-TECTA,TECTAc.6085T>G (p.Phe2029Val)
c.6070T>G (p.Phe2024Val)
c.3377T>G
n.2465T>G
c.7027T>G (p.Phe2343Val)
11g.121187918T>ACA383009710TBCEL-TECTA,TECTAc.6086T>A (p.Phe2029Tyr)
c.6071T>A (p.Phe2024Tyr)
c.3378T>A
n.2466T>A
c.7028T>A (p.Phe2343Tyr)
11g.121187918T>CCA383009711TBCEL-TECTA,TECTAc.6086T>C (p.Phe2029Ser)
c.6071T>C (p.Phe2024Ser)
c.3378T>C
n.2466T>C
c.7028T>C (p.Phe2343Ser)
 ClinVar dbSNP
11g.121187918T>GCA383009712TBCEL-TECTA,TECTAc.6086T>G (p.Phe2029Cys)
c.6071T>G (p.Phe2024Cys)
c.3378T>G
n.2466T>G
c.7028T>G (p.Phe2343Cys)
11g.121187919C>ACA383009713TBCEL-TECTA,TECTAc.6087C>A (p.Phe2029Leu)
c.6072C>A (p.Phe2024Leu)
c.3379C>A
n.2467C>A
c.7029C>A (p.Phe2343Leu)
11g.121187919C>GCA383009714TBCEL-TECTA,TECTAc.6087C>G (p.Phe2029Leu)
c.6072C>G (p.Phe2024Leu)
c.3379C>G
n.2467C>G
c.7029C>G (p.Phe2343Leu)
11g.121187919C>TCA477209166TBCEL-TECTA,TECTAc.6087C>T (p.Phe2029=)
c.6072C>T (p.Phe2024=)
c.3379C>T
n.2467C>T
c.7029C>T (p.Phe2343=)
 COSMIC
11g.121187920A=CA2004763167TBCEL-TECTA,TECTAc.6088A= (p.Ile2030=)
c.6073A= (p.Ile2025=)
c.3380A=
n.2468A=
c.7030A= (p.Ile2344=)
11g.121187920A>CCA383009716TBCEL-TECTA,TECTAc.6088A>C (p.Ile2030Leu)
c.6073A>C (p.Ile2025Leu)
c.3380A>C
n.2468A>C
c.7030A>C (p.Ile2344Leu)
11g.121187920A>GCA383009715TBCEL-TECTA,TECTAc.6088A>G (p.Ile2030Val)
c.6073A>G (p.Ile2025Val)
c.3380A>G
n.2468A>G
c.7030A>G (p.Ile2344Val)
 dbSNP gnomAD v4
11g.121187920A>TCA6327880TBCEL-TECTA,TECTAc.6088A>T (p.Ile2030Leu)
c.6073A>T (p.Ile2025Leu)
c.3380A>T
n.2468A>T
c.7030A>T (p.Ile2344Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121187921T>ACA383009717TBCEL-TECTA,TECTAc.6089T>A (p.Ile2030Lys)
c.6074T>A (p.Ile2025Lys)
c.3381T>A
n.2469T>A
c.7031T>A (p.Ile2344Lys)
11g.121187921T>CCA10576839TBCEL-TECTA,TECTAc.6089T>C (p.Ile2030Thr)
c.6074T>C (p.Ile2025Thr)
c.3381T>C
n.2469T>C
c.7031T>C (p.Ile2344Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.121187921T>GCA383009718TBCEL-TECTA,TECTAc.6089T>G (p.Ile2030Arg)
c.6074T>G (p.Ile2025Arg)
c.3381T>G
n.2469T>G
c.7031T>G (p.Ile2344Arg)
11g.121187921T=CA2004763168TBCEL-TECTA,TECTAc.6089T= (p.Ile2030=)
c.6074T= (p.Ile2025=)
c.3381T=
n.2469T=
c.7031T= (p.Ile2344=)
11g.121187922A>CCA477209168TBCEL-TECTA,TECTAc.6090A>C (p.Ile2030=)
c.6075A>C (p.Ile2025=)
c.3382A>C
n.2470A>C
c.7032A>C (p.Ile2344=)
11g.121187922A>GCA383009719TBCEL-TECTA,TECTAc.6090A>G (p.Ile2030Met)
c.6075A>G (p.Ile2025Met)
c.3382A>G
n.2470A>G
c.7032A>G (p.Ile2344Met)
11g.121187922A>TCA477209169TBCEL-TECTA,TECTAc.6090A>T (p.Ile2030=)
c.6075A>T (p.Ile2025=)
c.3382A>T
n.2470A>T
c.7032A>T (p.Ile2344=)
11g.121187923G>ACA383009720TBCEL-TECTA,TECTAc.6091G>A (p.Gly2031Arg)
c.6076G>A (p.Gly2026Arg)
c.3383G>A
n.2471G>A
c.7033G>A (p.Gly2345Arg)
11g.121187923G>CCA383009721TBCEL-TECTA,TECTAc.6091G>C (p.Gly2031Arg)
c.6076G>C (p.Gly2026Arg)
c.3383G>C
n.2471G>C
c.7033G>C (p.Gly2345Arg)
11g.121187923G>TCA383009722TBCEL-TECTA,TECTAc.6091G>T (p.Gly2031Trp)
c.6076G>T (p.Gly2026Trp)
c.3383G>T
n.2471G>T
c.7033G>T (p.Gly2345Trp)
11g.121187924G>ACA383009723TBCEL-TECTA,TECTAc.6092G>A (p.Gly2031Glu)
c.6077G>A (p.Gly2026Glu)
c.3384G>A
n.2472G>A
c.7034G>A (p.Gly2345Glu)
 dbSNP
11g.121187924G>CCA383009724TBCEL-TECTA,TECTAc.6092G>C (p.Gly2031Ala)
c.6077G>C (p.Gly2026Ala)
c.3384G>C
n.2472G>C
c.7034G>C (p.Gly2345Ala)
11g.121187924G=CA2004763169TBCEL-TECTA,TECTAc.6092G= (p.Gly2031=)
c.6077G= (p.Gly2026=)
c.3384G=
n.2472G=
c.7034G= (p.Gly2345=)
11g.121187924G>TCA383009725TBCEL-TECTA,TECTAc.6092G>T (p.Gly2031Val)
c.6077G>T (p.Gly2026Val)
c.3384G>T
n.2472G>T
c.7034G>T (p.Gly2345Val)
11g.121187925G>ACA477209172TBCEL-TECTA,TECTAc.6093G>A (p.Gly2031=)
c.6078G>A (p.Gly2026=)
c.3385G>A
n.2473G>A
c.7035G>A (p.Gly2345=)
11g.121187925G>CCA477209174TBCEL-TECTA,TECTAc.6093G>C (p.Gly2031=)
c.6078G>C (p.Gly2026=)
c.3385G>C
n.2473G>C
c.7035G>C (p.Gly2345=)
 gnomAD v4
11g.121187925G>TCA477209173TBCEL-TECTA,TECTAc.6093G>T (p.Gly2031=)
c.6078G>T (p.Gly2026=)
c.3385G>T
n.2473G>T
c.7035G>T (p.Gly2345=)
11g.121187926G>ACA383009726TBCEL-TECTA,TECTAc.6094G>A (p.Asp2032Asn)
c.6079G>A (p.Asp2027Asn)
c.3386G>A
n.2474G>A
c.7036G>A (p.Asp2346Asn)
 gnomAD v4 COSMIC
11g.121187926G>CCA383009727TBCEL-TECTA,TECTAc.6094G>C (p.Asp2032His)
c.6079G>C (p.Asp2027His)
c.3386G>C
n.2474G>C
c.7036G>C (p.Asp2346His)
11g.121187926G=CA2004763170TBCEL-TECTA,TECTAc.6094G= (p.Asp2032=)
c.6079G= (p.Asp2027=)
c.3386G=
n.2474G=
c.7036G= (p.Asp2346=)
11g.121187926G>TCA6327881TBCEL-TECTA,TECTAc.6094G>T (p.Asp2032Tyr)
c.6079G>T (p.Asp2027Tyr)
c.3386G>T
n.2474G>T
c.7036G>T (p.Asp2346Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121187927A>CCA383009729TBCEL-TECTA,TECTAc.6095A>C (p.Asp2032Ala)
c.6080A>C (p.Asp2027Ala)
c.3387A>C
n.2475A>C
c.7037A>C (p.Asp2346Ala)
11g.121187927A>GCA383009730TBCEL-TECTA,TECTAc.6095A>G (p.Asp2032Gly)
c.6080A>G (p.Asp2027Gly)
c.3387A>G
n.2475A>G
c.7037A>G (p.Asp2346Gly)
11g.121187927A>TCA383009728TBCEL-TECTA,TECTAc.6095A>T (p.Asp2032Val)
c.6080A>T (p.Asp2027Val)
c.3387A>T
n.2475A>T
c.7037A>T (p.Asp2346Val)
11g.121187928T>ACA383009731TBCEL-TECTA,TECTAc.6096T>A (p.Asp2032Glu)
c.6081T>A (p.Asp2027Glu)
c.3388T>A
n.2476T>A
c.7038T>A (p.Asp2346Glu)
11g.121187928T>CCA477209175TBCEL-TECTA,TECTAc.6096T>C (p.Asp2032=)
c.6081T>C (p.Asp2027=)
c.3388T>C
n.2476T>C
c.7038T>C (p.Asp2346=)
11g.121187928T>GCA383009732TBCEL-TECTA,TECTAc.6096T>G (p.Asp2032Glu)
c.6081T>G (p.Asp2027Glu)
c.3388T>G
n.2476T>G
c.7038T>G (p.Asp2346Glu)
11g.121187929T>ACA383009733TBCEL-TECTA,TECTAc.6097T>A (p.Tyr2033Asn)
c.6082T>A (p.Tyr2028Asn)
c.3389T>A
n.2477T>A
c.7039T>A (p.Tyr2347Asn)
11g.121187929T>CCA383009735TBCEL-TECTA,TECTAc.6097T>C (p.Tyr2033His)
c.6082T>C (p.Tyr2028His)
c.3389T>C
n.2477T>C
c.7039T>C (p.Tyr2347His)
11g.121187929T>GCA383009734TBCEL-TECTA,TECTAc.6097T>G (p.Tyr2033Asp)
c.6082T>G (p.Tyr2028Asp)
c.3389T>G
n.2477T>G
c.7039T>G (p.Tyr2347Asp)
11g.121187930A>CCA383009736TBCEL-TECTA,TECTAc.6098A>C (p.Tyr2033Ser)
c.6083A>C (p.Tyr2028Ser)
c.3390A>C
n.2478A>C
c.7040A>C (p.Tyr2347Ser)
11g.121187930A>GCA383009737TBCEL-TECTA,TECTAc.6098A>G (p.Tyr2033Cys)
c.6083A>G (p.Tyr2028Cys)
c.3390A>G
n.2478A>G
c.7040A>G (p.Tyr2347Cys)
11g.121187930A>TCA383009738TBCEL-TECTA,TECTAc.6098A>T (p.Tyr2033Phe)
c.6083A>T (p.Tyr2028Phe)
c.3390A>T
n.2478A>T
c.7040A>T (p.Tyr2347Phe)

Number of alleles fetched