Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.121187832G>A | CA477209036 | TBCEL-TECTA,TECTA | c.6000G>A (p.Gly2000=) c.5985G>A (p.Gly1995=) c.3292G>A n.2380G>A c.6942G>A (p.Gly2314=) | |
11 | g.121187832G>C | CA477209037 | TBCEL-TECTA,TECTA | c.6000G>C (p.Gly2000=) c.5985G>C (p.Gly1995=) c.3292G>C n.2380G>C c.6942G>C (p.Gly2314=) | |
11 | g.121187832G= | CA2004763136 | TBCEL-TECTA,TECTA | c.6000G= (p.Gly2000=) c.5985G= (p.Gly1995=) c.3292G= n.2380G= c.6942G= (p.Gly2314=) | |
11 | g.121187832G>T | CA477209038 | TBCEL-TECTA,TECTA | c.6000G>T (p.Gly2000=) c.5985G>T (p.Gly1995=) c.3292G>T n.2380G>T c.6942G>T (p.Gly2314=) | dbSNP |
11 | g.121187833T>A | CA383009520 | TBCEL-TECTA,TECTA | c.6001T>A (p.Cys2001Ser) c.5986T>A (p.Cys1996Ser) c.3293T>A n.2381T>A c.6943T>A (p.Cys2315Ser) | |
11 | g.121187833T>C | CA383009521 | TBCEL-TECTA,TECTA | c.6001T>C (p.Cys2001Arg) c.5986T>C (p.Cys1996Arg) c.3293T>C n.2381T>C c.6943T>C (p.Cys2315Arg) | |
11 | g.121187833T>G | CA383009522 | TBCEL-TECTA,TECTA | c.6001T>G (p.Cys2001Gly) c.5986T>G (p.Cys1996Gly) c.3293T>G n.2381T>G c.6943T>G (p.Cys2315Gly) | |
11 | g.121187834G>A | CA383009523 | TBCEL-TECTA,TECTA | c.6002G>A (p.Cys2001Tyr) c.5987G>A (p.Cys1996Tyr) c.3294G>A n.2382G>A c.6944G>A (p.Cys2315Tyr) | ClinVar |
11 | g.121187834G>C | CA383009524 | TBCEL-TECTA,TECTA | c.6002G>C (p.Cys2001Ser) c.5987G>C (p.Cys1996Ser) c.3294G>C n.2382G>C c.6944G>C (p.Cys2315Ser) | |
11 | g.121187834G>T | CA383009525 | TBCEL-TECTA,TECTA | c.6002G>T (p.Cys2001Phe) c.5987G>T (p.Cys1996Phe) c.3294G>T n.2382G>T c.6944G>T (p.Cys2315Phe) | |
11 | g.121187835T>A | CA383009527 | TBCEL-TECTA,TECTA | c.6003T>A (p.Cys2001Ter) c.5988T>A (p.Cys1996Ter) c.3295T>A n.2383T>A c.6945T>A (p.Cys2315Ter) | |
11 | g.121187835T>C | CA477209039 | TBCEL-TECTA,TECTA | c.6003T>C (p.Cys2001=) c.5988T>C (p.Cys1996=) c.3295T>C n.2383T>C c.6945T>C (p.Cys2315=) | |
11 | g.121187835T>G | CA383009526 | TBCEL-TECTA,TECTA | c.6003T>G (p.Cys2001Trp) c.5988T>G (p.Cys1996Trp) c.3295T>G n.2383T>G c.6945T>G (p.Cys2315Trp) | |
11 | g.121187836C>A | CA383009528 | TBCEL-TECTA,TECTA | c.6004C>A (p.Gln2002Lys) c.5989C>A (p.Gln1997Lys) c.3296C>A n.2384C>A c.6946C>A (p.Gln2316Lys) | |
11 | g.121187836C= | CA2004763137 | TBCEL-TECTA,TECTA | c.6004C= (p.Gln2002=) c.5989C= (p.Gln1997=) c.3296C= n.2384C= c.6946C= (p.Gln2316=) | |
11 | g.121187836C>G | CA383009529 | TBCEL-TECTA,TECTA | c.6004C>G (p.Gln2002Glu) c.5989C>G (p.Gln1997Glu) c.3296C>G n.2384C>G c.6946C>G (p.Gln2316Glu) | dbSNP |
11 | g.121187836C>T | CA383009530 | TBCEL-TECTA,TECTA | c.6004C>T (p.Gln2002Ter) c.5989C>T (p.Gln1997Ter) c.3296C>T n.2384C>T c.6946C>T (p.Gln2316Ter) | gnomAD v4 |
11 | g.121187837A>C | CA383009531 | TBCEL-TECTA,TECTA | c.6005A>C (p.Gln2002Pro) c.5990A>C (p.Gln1997Pro) c.3297A>C n.2385A>C c.6947A>C (p.Gln2316Pro) | |
11 | g.121187837A>G | CA383009532 | TBCEL-TECTA,TECTA | c.6005A>G (p.Gln2002Arg) c.5990A>G (p.Gln1997Arg) c.3297A>G n.2385A>G c.6947A>G (p.Gln2316Arg) | |
11 | g.121187837A>T | CA383009533 | TBCEL-TECTA,TECTA | c.6005A>T (p.Gln2002Leu) c.5990A>T (p.Gln1997Leu) c.3297A>T n.2385A>T c.6947A>T (p.Gln2316Leu) | |
11 | g.121187838G>A | CA477209040 | TBCEL-TECTA,TECTA | c.6006G>A (p.Gln2002=) c.5991G>A (p.Gln1997=) c.3298G>A n.2386G>A c.6948G>A (p.Gln2316=) | COSMIC |
11 | g.121187838G>C | CA383009534 | TBCEL-TECTA,TECTA | c.6006G>C (p.Gln2002His) c.5991G>C (p.Gln1997His) c.3298G>C n.2386G>C c.6948G>C (p.Gln2316His) | |
11 | g.121187838G>T | CA383009535 | TBCEL-TECTA,TECTA | c.6006G>T (p.Gln2002His) c.5991G>T (p.Gln1997His) c.3298G>T n.2386G>T c.6948G>T (p.Gln2316His) | |
11 | g.121187839A>C | CA383009536 | TBCEL-TECTA,TECTA | c.6007A>C (p.Asn2003His) c.5992A>C (p.Asn1998His) c.3299A>C n.2387A>C c.6949A>C (p.Asn2317His) | |
11 | g.121187839A>G | CA383009537 | TBCEL-TECTA,TECTA | c.6007A>G (p.Asn2003Asp) c.5992A>G (p.Asn1998Asp) c.3299A>G n.2387A>G c.6949A>G (p.Asn2317Asp) | |
11 | g.121187839A>T | CA383009538 | TBCEL-TECTA,TECTA | c.6007A>T (p.Asn2003Tyr) c.5992A>T (p.Asn1998Tyr) c.3299A>T n.2387A>T c.6949A>T (p.Asn2317Tyr) | |
11 | g.121187840A= | CA2004763138 | TBCEL-TECTA,TECTA | c.6008A= (p.Asn2003=) c.5993A= (p.Asn1998=) c.3300A= n.2388A= c.6950A= (p.Asn2317=) | |
11 | g.121187840A>C | CA383009539 | TBCEL-TECTA,TECTA | c.6008A>C (p.Asn2003Thr) c.5993A>C (p.Asn1998Thr) c.3300A>C n.2388A>C c.6950A>C (p.Asn2317Thr) | |
11 | g.121187840A>G | CA383009540 | TBCEL-TECTA,TECTA | c.6008A>G (p.Asn2003Ser) c.5993A>G (p.Asn1998Ser) c.3300A>G n.2388A>G c.6950A>G (p.Asn2317Ser) | |
11 | g.121187840A>T | CA383009541 | TBCEL-TECTA,TECTA | c.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 |
11 | g.121187841C>A | CA383009542 | TBCEL-TECTA,TECTA | c.6009C>A (p.Asn2003Lys) c.5994C>A (p.Asn1998Lys) c.3301C>A n.2389C>A c.6951C>A (p.Asn2317Lys) | |
11 | g.121187841C= | CA2004763139 | TBCEL-TECTA,TECTA | c.6009C= (p.Asn2003=) c.5994C= (p.Asn1998=) c.3301C= n.2389C= c.6951C= (p.Asn2317=) | |
11 | g.121187841C>G | CA383009543 | TBCEL-TECTA,TECTA | c.6009C>G (p.Asn2003Lys) c.5994C>G (p.Asn1998Lys) c.3301C>G n.2389C>G c.6951C>G (p.Asn2317Lys) | |
11 | g.121187841C>T | CA477209041 | TBCEL-TECTA,TECTA | c.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 |
11 | g.121187842C>A | CA383009544 | TBCEL-TECTA,TECTA | c.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 |
11 | g.121187842C= | CA2004763140 | TBCEL-TECTA,TECTA | c.6010C= (p.Leu2004=) c.5995C= (p.Leu1999=) c.3302C= n.2390C= c.6952C= (p.Leu2318=) | |
11 | g.121187842C>G | CA383009545 | TBCEL-TECTA,TECTA | c.6010C>G (p.Leu2004Val) c.5995C>G (p.Leu1999Val) c.3302C>G n.2390C>G c.6952C>G (p.Leu2318Val) | |
11 | g.121187842C>T | CA383009546 | TBCEL-TECTA,TECTA | c.6010C>T (p.Leu2004Phe) c.5995C>T (p.Leu1999Phe) c.3302C>T n.2390C>T c.6952C>T (p.Leu2318Phe) | |
11 | g.121187843T>A | CA383009547 | TBCEL-TECTA,TECTA | c.6011T>A (p.Leu2004His) c.5996T>A (p.Leu1999His) c.3303T>A n.2391T>A c.6953T>A (p.Leu2318His) | gnomAD v4 |
11 | g.121187843T>C | CA383009548 | TBCEL-TECTA,TECTA | c.6011T>C (p.Leu2004Pro) c.5996T>C (p.Leu1999Pro) c.3303T>C n.2391T>C c.6953T>C (p.Leu2318Pro) | |
11 | g.121187843T>G | CA383009549 | TBCEL-TECTA,TECTA | c.6011T>G (p.Leu2004Arg) c.5996T>G (p.Leu1999Arg) c.3303T>G n.2391T>G c.6953T>G (p.Leu2318Arg) | |
11 | g.121187844C>A | CA477209042 | TBCEL-TECTA,TECTA | c.6012C>A (p.Leu2004=) c.5997C>A (p.Leu1999=) c.3304C>A n.2392C>A c.6954C>A (p.Leu2318=) | |
11 | g.121187844C>G | CA477209043 | TBCEL-TECTA,TECTA | c.6012C>G (p.Leu2004=) c.5997C>G (p.Leu1999=) c.3304C>G n.2392C>G c.6954C>G (p.Leu2318=) | |
11 | g.121187844C>T | CA477209044 | TBCEL-TECTA,TECTA | c.6012C>T (p.Leu2004=) c.5997C>T (p.Leu1999=) c.3304C>T n.2392C>T c.6954C>T (p.Leu2318=) | |
11 | g.121187845A= | CA2004763141 | TBCEL-TECTA,TECTA | c.6013A= (p.Lys2005=) c.5998A= (p.Lys2000=) c.3305A= n.2393A= c.6955A= (p.Lys2319=) | |
11 | g.121187845A>C | CA6327869 | TBCEL-TECTA,TECTA | c.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 |
11 | g.121187845A>G | CA383009550 | TBCEL-TECTA,TECTA | c.6013A>G (p.Lys2005Glu) c.5998A>G (p.Lys2000Glu) c.3305A>G n.2393A>G c.6955A>G (p.Lys2319Glu) | |
11 | g.121187845A>T | CA383009551 | TBCEL-TECTA,TECTA | c.6013A>T (p.Lys2005Ter) c.5998A>T (p.Lys2000Ter) c.3305A>T n.2393A>T c.6955A>T (p.Lys2319Ter) | |
11 | g.121187845_121187850delinsAAAGAT | CA2004763142 | TBCEL-TECTA,TECTA | c.6013_6018delinsAAAGAT (p.Lys2005=) c.5998_6003delinsAAAGAT (p.Lys2000=) c.3305_3310delinsAAAGAT n.2393_2398delinsAAAGAT c.6955_6960delinsAAAGAT (p.Lys2319=) | |
11 | g.121187846A>C | CA383009552 | TBCEL-TECTA,TECTA | c.6014A>C (p.Lys2005Thr) c.5999A>C (p.Lys2000Thr) c.3306A>C n.2394A>C c.6956A>C (p.Lys2319Thr) | |
11 | g.121187846A>G | CA383009553 | TBCEL-TECTA,TECTA | c.6014A>G (p.Lys2005Arg) c.5999A>G (p.Lys2000Arg) c.3306A>G n.2394A>G c.6956A>G (p.Lys2319Arg) | |
11 | g.121187846A>T | CA383009554 | TBCEL-TECTA,TECTA | c.6014A>T (p.Lys2005Ile) c.5999A>T (p.Lys2000Ile) c.3306A>T n.2394A>T c.6956A>T (p.Lys2319Ile) | |
11 | g.121187848_121187852del | CA6327870 | TBCEL-TECTA,TECTA | c.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 |
11 | g.121187847A>C | CA383009556 | TBCEL-TECTA,TECTA | c.6015A>C (p.Lys2005Asn) c.6000A>C (p.Lys2000Asn) c.3307A>C n.2395A>C c.6957A>C (p.Lys2319Asn) | |
11 | g.121187847A>G | CA477209045 | TBCEL-TECTA,TECTA | c.6015A>G (p.Lys2005=) c.6000A>G (p.Lys2000=) c.3307A>G n.2395A>G c.6957A>G (p.Lys2319=) | |
11 | g.121187847A>T | CA383009555 | TBCEL-TECTA,TECTA | c.6015A>T (p.Lys2005Asn) c.6000A>T (p.Lys2000Asn) c.3307A>T n.2395A>T c.6957A>T (p.Lys2319Asn) | |
11 | g.121187848G>A | CA383009557 | TBCEL-TECTA,TECTA | c.6016G>A (p.Asp2006Asn) c.6001G>A (p.Asp2001Asn) c.3308G>A n.2396G>A c.6958G>A (p.Asp2320Asn) | ClinVar dbSNP |
11 | g.121187848G>C | CA383009559 | TBCEL-TECTA,TECTA | c.6016G>C (p.Asp2006His) c.6001G>C (p.Asp2001His) c.3308G>C n.2396G>C c.6958G>C (p.Asp2320His) | |
11 | g.121187848G>T | CA383009558 | TBCEL-TECTA,TECTA | c.6016G>T (p.Asp2006Tyr) c.6001G>T (p.Asp2001Tyr) c.3308G>T n.2396G>T c.6958G>T (p.Asp2320Tyr) | |
11 | g.121187849A= | CA2004763143 | TBCEL-TECTA,TECTA | c.6017A= (p.Asp2006=) c.6002A= (p.Asp2001=) c.3309A= n.2397A= c.6959A= (p.Asp2320=) | |
11 | g.121187849A>C | CA383009560 | TBCEL-TECTA,TECTA | c.6017A>C (p.Asp2006Ala) c.6002A>C (p.Asp2001Ala) c.3309A>C n.2397A>C c.6959A>C (p.Asp2320Ala) | |
11 | g.121187849A>G | CA10581507 | TBCEL-TECTA,TECTA | c.6017A>G (p.Asp2006Gly) c.6002A>G (p.Asp2001Gly) c.3309A>G n.2397A>G c.6959A>G (p.Asp2320Gly) | ClinVar dbSNP gnomAD v4 |
11 | g.121187849A>T | CA383009561 | TBCEL-TECTA,TECTA | c.6017A>T (p.Asp2006Val) c.6002A>T (p.Asp2001Val) c.3309A>T n.2397A>T c.6959A>T (p.Asp2320Val) | |
11 | g.121187850T>A | CA383009562 | TBCEL-TECTA,TECTA | c.6018T>A (p.Asp2006Glu) c.6003T>A (p.Asp2001Glu) c.3310T>A n.2398T>A c.6960T>A (p.Asp2320Glu) | |
11 | g.121187850T>C | CA477209046 | TBCEL-TECTA,TECTA | c.6018T>C (p.Asp2006=) c.6003T>C (p.Asp2001=) c.3310T>C n.2398T>C c.6960T>C (p.Asp2320=) | |
11 | g.121187850T>G | CA383009563 | TBCEL-TECTA,TECTA | c.6018T>G (p.Asp2006Glu) c.6003T>G (p.Asp2001Glu) c.3310T>G n.2398T>G c.6960T>G (p.Asp2320Glu) | |
11 | g.121187851A>C | CA383009564 | TBCEL-TECTA,TECTA | c.6019A>C (p.Asn2007His) c.6004A>C (p.Asn2002His) c.3311A>C n.2399A>C c.6961A>C (p.Asn2321His) | |
11 | g.121187851A>G | CA383009565 | TBCEL-TECTA,TECTA | c.6019A>G (p.Asn2007Asp) c.6004A>G (p.Asn2002Asp) c.3311A>G n.2399A>G c.6961A>G (p.Asn2321Asp) | |
11 | g.121187851A>T | CA383009566 | TBCEL-TECTA,TECTA | c.6019A>T (p.Asn2007Tyr) c.6004A>T (p.Asn2002Tyr) c.3311A>T n.2399A>T c.6961A>T (p.Asn2321Tyr) | |
11 | g.121187852A= | CA2004763144 | TBCEL-TECTA,TECTA | c.6020A= (p.Asn2007=) c.6005A= (p.Asn2002=) c.3312A= n.2400A= c.6962A= (p.Asn2321=) | |
11 | g.121187852A>C | CA383009567 | TBCEL-TECTA,TECTA | c.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 |
11 | g.121187852A>G | CA383009568 | TBCEL-TECTA,TECTA | c.6020A>G (p.Asn2007Ser) c.6005A>G (p.Asn2002Ser) c.3312A>G n.2400A>G c.6962A>G (p.Asn2321Ser) | |
11 | g.121187852A>T | CA383009569 | TBCEL-TECTA,TECTA | c.6020A>T (p.Asn2007Ile) c.6005A>T (p.Asn2002Ile) c.3312A>T n.2400A>T c.6962A>T (p.Asn2321Ile) | dbSNP gnomAD v4 |
11 | g.121187853C>A | CA383009570 | TBCEL-TECTA,TECTA | c.6021C>A (p.Asn2007Lys) c.6006C>A (p.Asn2002Lys) c.3313C>A n.2401C>A c.6963C>A (p.Asn2321Lys) | |
11 | g.121187853C>G | CA383009571 | TBCEL-TECTA,TECTA | c.6021C>G (p.Asn2007Lys) c.6006C>G (p.Asn2002Lys) c.3313C>G n.2401C>G c.6963C>G (p.Asn2321Lys) | |
11 | g.121187853C>T | CA477209047 | TBCEL-TECTA,TECTA | c.6021C>T (p.Asn2007=) c.6006C>T (p.Asn2002=) c.3313C>T n.2401C>T c.6963C>T (p.Asn2321=) | |
11 | g.121187854A>C | CA383009572 | TBCEL-TECTA,TECTA | c.6022A>C (p.Thr2008Pro) c.6007A>C (p.Thr2003Pro) c.3314A>C n.2402A>C c.6964A>C (p.Thr2322Pro) | ClinVar |
11 | g.121187854A>G | CA383009574 | TBCEL-TECTA,TECTA | c.6022A>G (p.Thr2008Ala) c.6007A>G (p.Thr2003Ala) c.3314A>G n.2402A>G c.6964A>G (p.Thr2322Ala) | |
11 | g.121187854A>T | CA383009573 | TBCEL-TECTA,TECTA | c.6022A>T (p.Thr2008Ser) c.6007A>T (p.Thr2003Ser) c.3314A>T n.2402A>T c.6964A>T (p.Thr2322Ser) | |
11 | g.121187855C>A | CA383009575 | TBCEL-TECTA,TECTA | c.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 |
11 | g.121187855C= | CA2004763145 | TBCEL-TECTA,TECTA | c.6023C= (p.Thr2008=) c.6008C= (p.Thr2003=) c.3315C= n.2403C= c.6965C= (p.Thr2322=) | |
11 | g.121187855C>G | CA383009576 | TBCEL-TECTA,TECTA | c.6023C>G (p.Thr2008Ser) c.6008C>G (p.Thr2003Ser) c.3315C>G n.2403C>G c.6965C>G (p.Thr2322Ser) | |
11 | g.121187855C>T | CA383009577 | TBCEL-TECTA,TECTA | c.6023C>T (p.Thr2008Ile) c.6008C>T (p.Thr2003Ile) c.3315C>T n.2403C>T c.6965C>T (p.Thr2322Ile) | |
11 | g.121187856C>A | CA477209048 | TBCEL-TECTA,TECTA | c.6024C>A (p.Thr2008=) c.6009C>A (p.Thr2003=) c.3316C>A n.2404C>A c.6966C>A (p.Thr2322=) | |
11 | g.121187856C>G | CA477209049 | TBCEL-TECTA,TECTA | c.6024C>G (p.Thr2008=) c.6009C>G (p.Thr2003=) c.3316C>G n.2404C>G c.6966C>G (p.Thr2322=) | |
11 | g.121187856C>T | CA477209051 | TBCEL-TECTA,TECTA | c.6024C>T (p.Thr2008=) c.6009C>T (p.Thr2003=) c.3316C>T n.2404C>T c.6966C>T (p.Thr2322=) | |
11 | g.121187857A= | CA2004763146 | TBCEL-TECTA,TECTA | c.6025A= (p.Ile2009=) c.6010A= (p.Ile2004=) c.3317A= n.2405A= c.6967A= (p.Ile2323=) | |
11 | g.121187857A>C | CA383009578 | TBCEL-TECTA,TECTA | c.6025A>C (p.Ile2009Leu) c.6010A>C (p.Ile2004Leu) c.3317A>C n.2405A>C c.6967A>C (p.Ile2323Leu) | |
11 | g.121187857A>G | CA6327871 | TBCEL-TECTA,TECTA | c.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 |
11 | g.121187857A>T | CA383009579 | TBCEL-TECTA,TECTA | c.6025A>T (p.Ile2009Phe) c.6010A>T (p.Ile2004Phe) c.3317A>T n.2405A>T c.6967A>T (p.Ile2323Phe) | |
11 | g.121187858T>A | CA383009580 | TBCEL-TECTA,TECTA | c.6026T>A (p.Ile2009Asn) c.6011T>A (p.Ile2004Asn) c.3318T>A n.2406T>A c.6968T>A (p.Ile2323Asn) | |
11 | g.121187858T>C | CA383009581 | TBCEL-TECTA,TECTA | c.6026T>C (p.Ile2009Thr) c.6011T>C (p.Ile2004Thr) c.3318T>C n.2406T>C c.6968T>C (p.Ile2323Thr) | dbSNP gnomAD v4 |
11 | g.121187858T>G | CA383009582 | TBCEL-TECTA,TECTA | c.6026T>G (p.Ile2009Ser) c.6011T>G (p.Ile2004Ser) c.3318T>G n.2406T>G c.6968T>G (p.Ile2323Ser) | |
11 | g.121187858T= | CA2004763147 | TBCEL-TECTA,TECTA | c.6026T= (p.Ile2009=) c.6011T= (p.Ile2004=) c.3318T= n.2406T= c.6968T= (p.Ile2323=) | |
11 | g.121187859T>A | CA477209053 | TBCEL-TECTA,TECTA | c.6027T>A (p.Ile2009=) c.6012T>A (p.Ile2004=) c.3319T>A n.2407T>A c.6969T>A (p.Ile2323=) | |
11 | g.121187859T>C | CA477209056 | TBCEL-TECTA,TECTA | c.6027T>C (p.Ile2009=) c.6012T>C (p.Ile2004=) c.3319T>C n.2407T>C c.6969T>C (p.Ile2323=) | |
11 | g.121187859T>G | CA383009583 | TBCEL-TECTA,TECTA | c.6027T>G (p.Ile2009Met) c.6012T>G (p.Ile2004Met) c.3319T>G n.2407T>G c.6969T>G (p.Ile2323Met) | |
11 | g.121187860G>A | CA383009585 | TBCEL-TECTA,TECTA | c.6028G>A (p.Gly2010Ser) c.6013G>A (p.Gly2005Ser) c.3320G>A n.2408G>A c.6970G>A (p.Gly2324Ser) | dbSNP gnomAD v4 |
11 | g.121187860G>C | CA383009586 | TBCEL-TECTA,TECTA | c.6028G>C (p.Gly2010Arg) c.6013G>C (p.Gly2005Arg) c.3320G>C n.2408G>C c.6970G>C (p.Gly2324Arg) | |
11 | g.121187860G= | CA2004763148 | TBCEL-TECTA,TECTA | c.6028G= (p.Gly2010=) c.6013G= (p.Gly2005=) c.3320G= n.2408G= c.6970G= (p.Gly2324=) | |
11 | g.121187860G>T | CA383009584 | TBCEL-TECTA,TECTA | c.6028G>T (p.Gly2010Cys) c.6013G>T (p.Gly2005Cys) c.3320G>T n.2408G>T c.6970G>T (p.Gly2324Cys) | |
11 | g.121187861G>A | CA229828334 | TBCEL-TECTA,TECTA | c.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 |
11 | g.121187861G>C | CA383009587 | TBCEL-TECTA,TECTA | c.6029G>C (p.Gly2010Ala) c.6014G>C (p.Gly2005Ala) c.3321G>C n.2409G>C c.6971G>C (p.Gly2324Ala) | |
11 | g.121187861G= | CA2004763149 | TBCEL-TECTA,TECTA | c.6029G= (p.Gly2010=) c.6014G= (p.Gly2005=) c.3321G= n.2409G= c.6971G= (p.Gly2324=) | |
11 | g.121187861G>T | CA383009588 | TBCEL-TECTA,TECTA | c.6029G>T (p.Gly2010Val) c.6014G>T (p.Gly2005Val) c.3321G>T n.2409G>T c.6971G>T (p.Gly2324Val) | |
11 | g.121187862C>A | CA477209059 | TBCEL-TECTA,TECTA | c.6030C>A (p.Gly2010=) c.6015C>A (p.Gly2005=) c.3322C>A n.2410C>A c.6972C>A (p.Gly2324=) | |
11 | g.121187862C>G | CA477209061 | TBCEL-TECTA,TECTA | c.6030C>G (p.Gly2010=) c.6015C>G (p.Gly2005=) c.3322C>G n.2410C>G c.6972C>G (p.Gly2324=) | |
11 | g.121187862C>T | CA477209062 | TBCEL-TECTA,TECTA | c.6030C>T (p.Gly2010=) c.6015C>T (p.Gly2005=) c.3322C>T n.2410C>T c.6972C>T (p.Gly2324=) | gnomAD v4 |
11 | g.121187863A= | CA2004763150 | TBCEL-TECTA,TECTA | c.6031A= (p.Ile2011=) c.6016A= (p.Ile2006=) c.3323A= n.2411A= c.6973A= (p.Ile2325=) | |
11 | g.121187863A>C | CA383009589 | TBCEL-TECTA,TECTA | c.6031A>C (p.Ile2011Leu) c.6016A>C (p.Ile2006Leu) c.3323A>C n.2411A>C c.6973A>C (p.Ile2325Leu) | |
11 | g.121187863A>G | CA383009590 | TBCEL-TECTA,TECTA | c.6031A>G (p.Ile2011Val) c.6016A>G (p.Ile2006Val) c.3323A>G n.2411A>G c.6973A>G (p.Ile2325Val) | dbSNP |
11 | g.121187863A>T | CA383009591 | TBCEL-TECTA,TECTA | c.6031A>T (p.Ile2011Phe) c.6016A>T (p.Ile2006Phe) c.3323A>T n.2411A>T c.6973A>T (p.Ile2325Phe) | |
11 | g.121187864T>A | CA383009592 | TBCEL-TECTA,TECTA | c.6032T>A (p.Ile2011Asn) c.6017T>A (p.Ile2006Asn) c.3324T>A n.2412T>A c.6974T>A (p.Ile2325Asn) | |
11 | g.121187864T>C | CA383009593 | TBCEL-TECTA,TECTA | c.6032T>C (p.Ile2011Thr) c.6017T>C (p.Ile2006Thr) c.3324T>C n.2412T>C c.6974T>C (p.Ile2325Thr) | |
11 | g.121187864T>G | CA383009594 | TBCEL-TECTA,TECTA | c.6032T>G (p.Ile2011Ser) c.6017T>G (p.Ile2006Ser) c.3324T>G n.2412T>G c.6974T>G (p.Ile2325Ser) | |
11 | g.121187865C>A | CA477209063 | TBCEL-TECTA,TECTA | c.6033C>A (p.Ile2011=) c.6018C>A (p.Ile2006=) c.3325C>A n.2413C>A c.6975C>A (p.Ile2325=) | |
11 | g.121187865C= | CA2004763151 | TBCEL-TECTA,TECTA | c.6033C= (p.Ile2011=) c.6018C= (p.Ile2006=) c.3325C= n.2413C= c.6975C= (p.Ile2325=) | |
11 | g.121187865C>G | CA383009595 | TBCEL-TECTA,TECTA | c.6033C>G (p.Ile2011Met) c.6018C>G (p.Ile2006Met) c.3325C>G n.2413C>G c.6975C>G (p.Ile2325Met) | gnomAD v4 |
11 | g.121187865C>T | CA477209064 | TBCEL-TECTA,TECTA | c.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 |
11 | g.121187866G>A | CA6327872 | TBCEL-TECTA,TECTA | c.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 |
11 | g.121187866G>C | CA383009596 | TBCEL-TECTA,TECTA | c.6034G>C (p.Glu2012Gln) c.6019G>C (p.Glu2007Gln) c.3326G>C n.2414G>C c.6976G>C (p.Glu2326Gln) | |
11 | g.121187866G= | CA2004763152 | TBCEL-TECTA,TECTA | c.6034G= (p.Glu2012=) c.6019G= (p.Glu2007=) c.3326G= n.2414G= c.6976G= (p.Glu2326=) | |
11 | g.121187866G>T | CA383009597 | TBCEL-TECTA,TECTA | c.6034G>T (p.Glu2012Ter) c.6019G>T (p.Glu2007Ter) c.3326G>T n.2414G>T c.6976G>T (p.Glu2326Ter) | |
11 | g.121187867A>C | CA383009600 | TBCEL-TECTA,TECTA | c.6035A>C (p.Glu2012Ala) c.6020A>C (p.Glu2007Ala) c.3327A>C n.2415A>C c.6977A>C (p.Glu2326Ala) | |
11 | g.121187867A>G | CA383009599 | TBCEL-TECTA,TECTA | c.6035A>G (p.Glu2012Gly) c.6020A>G (p.Glu2007Gly) c.3327A>G n.2415A>G c.6977A>G (p.Glu2326Gly) | |
11 | g.121187867A>T | CA383009598 | TBCEL-TECTA,TECTA | c.6035A>T (p.Glu2012Val) c.6020A>T (p.Glu2007Val) c.3327A>T n.2415A>T c.6977A>T (p.Glu2326Val) | |
11 | g.121187867_121187868delinsAG | CA2004763153 | TBCEL-TECTA,TECTA | c.6035_6036delinsAG (p.Glu2012=) c.6020_6021delinsAG (p.Glu2007=) c.3327_3328delinsAG n.2415_2416delinsAG c.6977_6978delinsAG (p.Glu2326=) | |
11 | g.121187868G>A | CA477209066 | TBCEL-TECTA,TECTA | c.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 |
11 | g.121187868G>C | CA383009601 | TBCEL-TECTA,TECTA | c.6036G>C (p.Glu2012Asp) c.6021G>C (p.Glu2007Asp) c.3328G>C n.2416G>C c.6978G>C (p.Glu2326Asp) | |
11 | g.121187868G= | CA2004763154 | TBCEL-TECTA,TECTA | c.6036G= (p.Glu2012=) c.6021G= (p.Glu2007=) c.3328G= n.2416G= c.6978G= (p.Glu2326=) | |
11 | g.121187868G>T | CA383009602 | TBCEL-TECTA,TECTA | c.6036G>T (p.Glu2012Asp) c.6021G>T (p.Glu2007Asp) c.3328G>T n.2416G>T c.6978G>T (p.Glu2326Asp) | |
11 | g.121187869del | CA602580375 | TBCEL-TECTA,TECTA | c.6037del (p.Glu2013ArgfsTer6) c.6022del (p.Glu2008ArgfsTer6) c.3329del n.2417del c.6979del (p.Glu2327ArgfsTer6) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.121187869G>A | CA383009603 | TBCEL-TECTA,TECTA | c.6037G>A (p.Glu2013Lys) c.6022G>A (p.Glu2008Lys) c.3329G>A n.2417G>A c.6979G>A (p.Glu2327Lys) | gnomAD v4 |
11 | g.121187869G>C | CA383009604 | TBCEL-TECTA,TECTA | c.6037G>C (p.Glu2013Gln) c.6022G>C (p.Glu2008Gln) c.3329G>C n.2417G>C c.6979G>C (p.Glu2327Gln) | |
11 | g.121187869G>T | CA383009605 | TBCEL-TECTA,TECTA | c.6037G>T (p.Glu2013Ter) c.6022G>T (p.Glu2008Ter) c.3329G>T n.2417G>T c.6979G>T (p.Glu2327Ter) | |
11 | g.121187870A>C | CA383009606 | TBCEL-TECTA,TECTA | c.6038A>C (p.Glu2013Ala) c.6023A>C (p.Glu2008Ala) c.3330A>C n.2418A>C c.6980A>C (p.Glu2327Ala) | |
11 | g.121187870A>G | CA383009607 | TBCEL-TECTA,TECTA | c.6038A>G (p.Glu2013Gly) c.6023A>G (p.Glu2008Gly) c.3330A>G n.2418A>G c.6980A>G (p.Glu2327Gly) | gnomAD v4 |
11 | g.121187870A>T | CA383009608 | TBCEL-TECTA,TECTA | c.6038A>T (p.Glu2013Val) c.6023A>T (p.Glu2008Val) c.3330A>T n.2418A>T c.6980A>T (p.Glu2327Val) | |
11 | g.121187871G>A | CA477209070 | TBCEL-TECTA,TECTA | c.6039G>A (p.Glu2013=) c.6024G>A (p.Glu2008=) c.3331G>A n.2419G>A c.6981G>A (p.Glu2327=) | |
11 | g.121187871G>C | CA383009609 | TBCEL-TECTA,TECTA | c.6039G>C (p.Glu2013Asp) c.6024G>C (p.Glu2008Asp) c.3331G>C n.2419G>C c.6981G>C (p.Glu2327Asp) | |
11 | g.121187871G>T | CA383009610 | TBCEL-TECTA,TECTA | c.6039G>T (p.Glu2013Asp) c.6024G>T (p.Glu2008Asp) c.3331G>T n.2419G>T c.6981G>T (p.Glu2327Asp) | |
11 | g.121187872A>C | CA383009611 | TBCEL-TECTA,TECTA | c.6040A>C (p.Asn2014His) c.6025A>C (p.Asn2009His) c.3332A>C n.2420A>C c.6982A>C (p.Asn2328His) | |
11 | g.121187872A>G | CA383009612 | TBCEL-TECTA,TECTA | c.6040A>G (p.Asn2014Asp) c.6025A>G (p.Asn2009Asp) c.3332A>G n.2420A>G c.6982A>G (p.Asn2328Asp) | |
11 | g.121187872A>T | CA383009613 | TBCEL-TECTA,TECTA | c.6040A>T (p.Asn2014Tyr) c.6025A>T (p.Asn2009Tyr) c.3332A>T n.2420A>T c.6982A>T (p.Asn2328Tyr) | |
11 | g.121187873A>C | CA383009614 | TBCEL-TECTA,TECTA | c.6041A>C (p.Asn2014Thr) c.6026A>C (p.Asn2009Thr) c.3333A>C n.2421A>C c.6983A>C (p.Asn2328Thr) | |
11 | g.121187873A>G | CA383009616 | TBCEL-TECTA,TECTA | c.6041A>G (p.Asn2014Ser) c.6026A>G (p.Asn2009Ser) c.3333A>G n.2421A>G c.6983A>G (p.Asn2328Ser) | |
11 | g.121187873A>T | CA383009615 | TBCEL-TECTA,TECTA | c.6041A>T (p.Asn2014Ile) c.6026A>T (p.Asn2009Ile) c.3333A>T n.2421A>T c.6983A>T (p.Asn2328Ile) | |
11 | g.121187874T>A | CA383009617 | TBCEL-TECTA,TECTA | c.6042T>A (p.Asn2014Lys) c.6027T>A (p.Asn2009Lys) c.3334T>A n.2422T>A c.6984T>A (p.Asn2328Lys) | |
11 | g.121187874T>C | CA477209074 | TBCEL-TECTA,TECTA | c.6042T>C (p.Asn2014=) c.6027T>C (p.Asn2009=) c.3334T>C n.2422T>C c.6984T>C (p.Asn2328=) | dbSNP gnomAD v4 |
11 | g.121187874T>G | CA383009618 | TBCEL-TECTA,TECTA | c.6042T>G (p.Asn2014Lys) c.6027T>G (p.Asn2009Lys) c.3334T>G n.2422T>G c.6984T>G (p.Asn2328Lys) | |
11 | g.121187874T= | CA2004763155 | TBCEL-TECTA,TECTA | c.6042T= (p.Asn2014=) c.6027T= (p.Asn2009=) c.3334T= n.2422T= c.6984T= (p.Asn2328=) | |
11 | g.121187875G>A | CA383009619 | TBCEL-TECTA,TECTA | c.6043G>A (p.Ala2015Thr) c.6028G>A (p.Ala2010Thr) c.3335G>A n.2423G>A c.6985G>A (p.Ala2329Thr) | |
11 | g.121187875G>C | CA383009621 | TBCEL-TECTA,TECTA | c.6043G>C (p.Ala2015Pro) c.6028G>C (p.Ala2010Pro) c.3335G>C n.2423G>C c.6985G>C (p.Ala2329Pro) | ClinVar |
11 | g.121187875G>T | CA383009620 | TBCEL-TECTA,TECTA | c.6043G>T (p.Ala2015Ser) c.6028G>T (p.Ala2010Ser) c.3335G>T n.2423G>T c.6985G>T (p.Ala2329Ser) | |
11 | g.121187876C>A | CA383009622 | TBCEL-TECTA,TECTA | c.6044C>A (p.Ala2015Glu) c.6029C>A (p.Ala2010Glu) c.3336C>A n.2424C>A c.6986C>A (p.Ala2329Glu) | |
11 | g.121187876C>G | CA383009623 | TBCEL-TECTA,TECTA | c.6044C>G (p.Ala2015Gly) c.6029C>G (p.Ala2010Gly) c.3336C>G n.2424C>G c.6986C>G (p.Ala2329Gly) | |
11 | g.121187876C>T | CA383009624 | TBCEL-TECTA,TECTA | c.6044C>T (p.Ala2015Val) c.6029C>T (p.Ala2010Val) c.3336C>T n.2424C>T c.6986C>T (p.Ala2329Val) | |
11 | g.121187877A>C | CA477209075 | TBCEL-TECTA,TECTA | c.6045A>C (p.Ala2015=) c.6030A>C (p.Ala2010=) c.3337A>C n.2425A>C c.6987A>C (p.Ala2329=) | |
11 | g.121187877A>G | CA477209076 | TBCEL-TECTA,TECTA | c.6045A>G (p.Ala2015=) c.6030A>G (p.Ala2010=) c.3337A>G n.2425A>G c.6987A>G (p.Ala2329=) | |
11 | g.121187877A>T | CA477209077 | TBCEL-TECTA,TECTA | c.6045A>T (p.Ala2015=) c.6030A>T (p.Ala2010=) c.3337A>T n.2425A>T c.6987A>T (p.Ala2329=) | |
11 | g.121187878G>A | CA6327873 | TBCEL-TECTA,TECTA | c.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 |
11 | g.121187878G>C | CA383009625 | TBCEL-TECTA,TECTA | c.6046G>C (p.Val2016Leu) c.6031G>C (p.Val2011Leu) c.3338G>C n.2426G>C c.6988G>C (p.Val2330Leu) | |
11 | g.121187878G= | CA2004763156 | TBCEL-TECTA,TECTA | c.6046G= (p.Val2016=) c.6031G= (p.Val2011=) c.3338G= n.2426G= c.6988G= (p.Val2330=) | |
11 | g.121187878G>T | CA383009626 | TBCEL-TECTA,TECTA | c.6046G>T (p.Val2016Phe) c.6031G>T (p.Val2011Phe) c.3338G>T n.2426G>T c.6988G>T (p.Val2330Phe) | |
11 | g.121187879T>A | CA383009627 | TBCEL-TECTA,TECTA | c.6047T>A (p.Val2016Asp) c.6032T>A (p.Val2011Asp) c.3339T>A n.2427T>A c.6989T>A (p.Val2330Asp) | |
11 | g.121187879T>C | CA383009628 | TBCEL-TECTA,TECTA | c.6047T>C (p.Val2016Ala) c.6032T>C (p.Val2011Ala) c.3339T>C n.2427T>C c.6989T>C (p.Val2330Ala) | |
11 | g.121187879T>G | CA383009629 | TBCEL-TECTA,TECTA | c.6047T>G (p.Val2016Gly) c.6032T>G (p.Val2011Gly) c.3339T>G n.2427T>G c.6989T>G (p.Val2330Gly) | |
11 | g.121187880C>A | CA477209084 | TBCEL-TECTA,TECTA | c.6048C>A (p.Val2016=) c.6033C>A (p.Val2011=) c.3340C>A n.2428C>A c.6990C>A (p.Val2330=) | |
11 | g.121187880C>G | CA477209083 | TBCEL-TECTA,TECTA | c.6048C>G (p.Val2016=) c.6033C>G (p.Val2011=) c.3340C>G n.2428C>G c.6990C>G (p.Val2330=) | |
11 | g.121187880C>T | CA477209082 | TBCEL-TECTA,TECTA | c.6048C>T (p.Val2016=) c.6033C>T (p.Val2011=) c.3340C>T n.2428C>T c.6990C>T (p.Val2330=) | |
11 | g.121187881T>A | CA383009630 | TBCEL-TECTA,TECTA | c.6049T>A (p.Ser2017Thr) c.6034T>A (p.Ser2012Thr) c.3341T>A n.2429T>A c.6991T>A (p.Ser2331Thr) | |
11 | g.121187881T>C | CA383009631 | TBCEL-TECTA,TECTA | c.6049T>C (p.Ser2017Pro) c.6034T>C (p.Ser2012Pro) c.3341T>C n.2429T>C c.6991T>C (p.Ser2331Pro) | |
11 | g.121187881T>G | CA383009632 | TBCEL-TECTA,TECTA | c.6049T>G (p.Ser2017Ala) c.6034T>G (p.Ser2012Ala) c.3341T>G n.2429T>G c.6991T>G (p.Ser2331Ala) | |
11 | g.121187882C>A | CA383009635 | TBCEL-TECTA,TECTA | c.6050C>A (p.Ser2017Tyr) c.6035C>A (p.Ser2012Tyr) c.3342C>A n.2430C>A c.6992C>A (p.Ser2331Tyr) | |
11 | g.121187882C>G | CA383009633 | TBCEL-TECTA,TECTA | c.6050C>G (p.Ser2017Cys) c.6035C>G (p.Ser2012Cys) c.3342C>G n.2430C>G c.6992C>G (p.Ser2331Cys) | |
11 | g.121187882C>T | CA383009634 | TBCEL-TECTA,TECTA | c.6050C>T (p.Ser2017Phe) c.6035C>T (p.Ser2012Phe) c.3342C>T n.2430C>T c.6992C>T (p.Ser2331Phe) | COSMIC |
11 | g.121187883C>A | CA477209091 | TBCEL-TECTA,TECTA | c.6051C>A (p.Ser2017=) c.6036C>A (p.Ser2012=) c.3343C>A n.2431C>A c.6993C>A (p.Ser2331=) | |
11 | g.121187883C= | CA2004763157 | TBCEL-TECTA,TECTA | c.6051C= (p.Ser2017=) c.6036C= (p.Ser2012=) c.3343C= n.2431C= c.6993C= (p.Ser2331=) | |
11 | g.121187883C>G | CA477209097 | TBCEL-TECTA,TECTA | c.6051C>G (p.Ser2017=) c.6036C>G (p.Ser2012=) c.3343C>G n.2431C>G c.6993C>G (p.Ser2331=) | |
11 | g.121187883C>T | CA6327874 | TBCEL-TECTA,TECTA | c.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 |
11 | g.121187884C>A | CA383009636 | TBCEL-TECTA,TECTA | c.6052C>A (p.Leu2018Met) c.6037C>A (p.Leu2013Met) c.3344C>A n.2432C>A c.6994C>A (p.Leu2332Met) | |
11 | g.121187884C= | CA2004763158 | TBCEL-TECTA,TECTA | c.6052C= (p.Leu2018=) c.6037C= (p.Leu2013=) c.3344C= n.2432C= c.6994C= (p.Leu2332=) | |
11 | g.121187884C>G | CA383009637 | TBCEL-TECTA,TECTA | c.6052C>G (p.Leu2018Val) c.6037C>G (p.Leu2013Val) c.3344C>G n.2432C>G c.6994C>G (p.Leu2332Val) | |
11 | g.121187884C>T | CA229828346 | TBCEL-TECTA,TECTA | c.6052C>T (p.Leu2018=) c.6037C>T (p.Leu2013=) c.3344C>T n.2432C>T c.6994C>T (p.Leu2332=) | dbSNP |
11 | g.121187885T>A | CA383009638 | TBCEL-TECTA,TECTA | c.6053T>A (p.Leu2018Gln) c.6038T>A (p.Leu2013Gln) c.3345T>A n.2433T>A c.6995T>A (p.Leu2332Gln) | |
11 | g.121187885T>C | CA383009639 | TBCEL-TECTA,TECTA | c.6053T>C (p.Leu2018Pro) c.6038T>C (p.Leu2013Pro) c.3345T>C n.2433T>C c.6995T>C (p.Leu2332Pro) | |
11 | g.121187885T>G | CA383009640 | TBCEL-TECTA,TECTA | c.6053T>G (p.Leu2018Arg) c.6038T>G (p.Leu2013Arg) c.3345T>G n.2433T>G c.6995T>G (p.Leu2332Arg) | |
11 | g.121187886G>A | CA477209100 | TBCEL-TECTA,TECTA | c.6054G>A (p.Leu2018=) c.6039G>A (p.Leu2013=) c.3346G>A n.2434G>A c.6996G>A (p.Leu2332=) | |
11 | g.121187886G>C | CA477209102 | TBCEL-TECTA,TECTA | c.6054G>C (p.Leu2018=) c.6039G>C (p.Leu2013=) c.3346G>C n.2434G>C c.6996G>C (p.Leu2332=) | |
11 | g.121187886G>T | CA477209101 | TBCEL-TECTA,TECTA | c.6054G>T (p.Leu2018=) c.6039G>T (p.Leu2013=) c.3346G>T n.2434G>T c.6996G>T (p.Leu2332=) | |
11 | g.121187887A= | CA2004763159 | TBCEL-TECTA,TECTA | c.6055A= (p.Thr2019=) c.6040A= (p.Thr2014=) c.3347A= n.2435A= c.6997A= (p.Thr2333=) | |
11 | g.121187887A>C | CA383009641 | TBCEL-TECTA,TECTA | c.6055A>C (p.Thr2019Pro) c.6040A>C (p.Thr2014Pro) c.3347A>C n.2435A>C c.6997A>C (p.Thr2333Pro) | |
11 | g.121187887A>G | CA229828355 | TBCEL-TECTA,TECTA | c.6055A>G (p.Thr2019Ala) c.6040A>G (p.Thr2014Ala) c.3347A>G n.2435A>G c.6997A>G (p.Thr2333Ala) | dbSNP |
11 | g.121187887A>T | CA383009642 | TBCEL-TECTA,TECTA | c.6055A>T (p.Thr2019Ser) c.6040A>T (p.Thr2014Ser) c.3347A>T n.2435A>T c.6997A>T (p.Thr2333Ser) | |
11 | g.121187888C>A | CA383009645 | TBCEL-TECTA,TECTA | c.6056C>A (p.Thr2019Asn) c.6041C>A (p.Thr2014Asn) c.3348C>A n.2436C>A c.6998C>A (p.Thr2333Asn) | |
11 | g.121187888C>G | CA383009644 | TBCEL-TECTA,TECTA | c.6056C>G (p.Thr2019Ser) c.6041C>G (p.Thr2014Ser) c.3348C>G n.2436C>G c.6998C>G (p.Thr2333Ser) | |
11 | g.121187888C>T | CA383009643 | TBCEL-TECTA,TECTA | c.6056C>T (p.Thr2019Ile) c.6041C>T (p.Thr2014Ile) c.3348C>T n.2436C>T c.6998C>T (p.Thr2333Ile) | |
11 | g.121187889del | CA2499220809 | TBCEL-TECTA,TECTA | c.6057del (p.Cys2020ValfsTer11) c.6042del (p.Cys2015ValfsTer11) c.3349del n.2437del c.6999del (p.Cys2334ValfsTer11) | ClinVar dbSNP gnomAD v4 |
11 | g.121187889C>A | CA477209103 | TBCEL-TECTA,TECTA | c.6057C>A (p.Thr2019=) c.6042C>A (p.Thr2014=) c.3349C>A n.2437C>A c.6999C>A (p.Thr2333=) | |
11 | g.121187889C>G | CA477209105 | TBCEL-TECTA,TECTA | c.6057C>G (p.Thr2019=) c.6042C>G (p.Thr2014=) c.3349C>G n.2437C>G c.6999C>G (p.Thr2333=) | |
11 | g.121187889C>T | CA477209107 | TBCEL-TECTA,TECTA | c.6057C>T (p.Thr2019=) c.6042C>T (p.Thr2014=) c.3349C>T n.2437C>T c.6999C>T (p.Thr2333=) | |
11 | g.121187890T>A | CA383009646 | TBCEL-TECTA,TECTA | c.6058T>A (p.Cys2020Ser) c.6043T>A (p.Cys2015Ser) c.3350T>A n.2438T>A c.7000T>A (p.Cys2334Ser) | |
11 | g.121187890T>C | CA383009647 | TBCEL-TECTA,TECTA | c.6058T>C (p.Cys2020Arg) c.6043T>C (p.Cys2015Arg) c.3350T>C n.2438T>C c.7000T>C (p.Cys2334Arg) | |
11 | g.121187890T>G | CA383009648 | TBCEL-TECTA,TECTA | c.6058T>G (p.Cys2020Gly) c.6043T>G (p.Cys2015Gly) c.3350T>G n.2438T>G c.7000T>G (p.Cys2334Gly) | |
11 | g.121187891G>A | CA383009649 | TBCEL-TECTA,TECTA | c.6059G>A (p.Cys2020Tyr) c.6044G>A (p.Cys2015Tyr) c.3351G>A n.2439G>A c.7001G>A (p.Cys2334Tyr) | |
11 | g.121187891G>C | CA383009650 | TBCEL-TECTA,TECTA | c.6059G>C (p.Cys2020Ser) c.6044G>C (p.Cys2015Ser) c.3351G>C n.2439G>C c.7001G>C (p.Cys2334Ser) | |
11 | g.121187891G>T | CA383009651 | TBCEL-TECTA,TECTA | c.6059G>T (p.Cys2020Phe) c.6044G>T (p.Cys2015Phe) c.3351G>T n.2439G>T c.7001G>T (p.Cys2334Phe) | |
11 | g.121187892T>A | CA383009653 | TBCEL-TECTA,TECTA | c.6060T>A (p.Cys2020Ter) c.6045T>A (p.Cys2015Ter) c.3352T>A n.2440T>A c.7002T>A (p.Cys2334Ter) | |
11 | g.121187892T>C | CA477209111 | TBCEL-TECTA,TECTA | c.6060T>C (p.Cys2020=) c.6045T>C (p.Cys2015=) c.3352T>C n.2440T>C c.7002T>C (p.Cys2334=) | gnomAD v4 |
11 | g.121187892T>G | CA383009652 | TBCEL-TECTA,TECTA | c.6060T>G (p.Cys2020Trp) c.6045T>G (p.Cys2015Trp) c.3352T>G n.2440T>G c.7002T>G (p.Cys2334Trp) | |
11 | g.121187893C>A | CA383009654 | TBCEL-TECTA,TECTA | c.6061C>A (p.Arg2021Ser) c.6046C>A (p.Arg2016Ser) c.3353C>A n.2441C>A c.7003C>A (p.Arg2335Ser) | |
11 | g.121187893C= | CA2004763160 | TBCEL-TECTA,TECTA | c.6061C= (p.Arg2021=) c.6046C= (p.Arg2016=) c.3353C= n.2441C= c.7003C= (p.Arg2335=) | |
11 | g.121187893C>G | CA383009655 | TBCEL-TECTA,TECTA | c.6061C>G (p.Arg2021Gly) c.6046C>G (p.Arg2016Gly) c.3353C>G n.2441C>G c.7003C>G (p.Arg2335Gly) | |
11 | g.121187893C>T | CA383009656 | TBCEL-TECTA,TECTA | c.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 |
11 | g.121187894G>A | CA254070 | TBCEL-TECTA,TECTA | c.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 |
11 | g.121187894G>C | CA383009657 | TBCEL-TECTA,TECTA | c.6062G>C (p.Arg2021Pro) c.6047G>C (p.Arg2016Pro) c.3354G>C n.2442G>C c.7004G>C (p.Arg2335Pro) | |
11 | g.121187894G= | CA2004763161 | TBCEL-TECTA,TECTA | c.6062G= (p.Arg2021=) c.6047G= (p.Arg2016=) c.3354G= n.2442G= c.7004G= (p.Arg2335=) | |
11 | g.121187894G>T | CA383009658 | TBCEL-TECTA,TECTA | c.6062G>T (p.Arg2021Leu) c.6047G>T (p.Arg2016Leu) c.3354G>T n.2442G>T c.7004G>T (p.Arg2335Leu) | |
11 | g.121187895C>A | CA477209120 | TBCEL-TECTA,TECTA | c.6063C>A (p.Arg2021=) c.6048C>A (p.Arg2016=) c.3355C>A n.2443C>A c.7005C>A (p.Arg2335=) | |
11 | g.121187895C>G | CA477209121 | TBCEL-TECTA,TECTA | c.6063C>G (p.Arg2021=) c.6048C>G (p.Arg2016=) c.3355C>G n.2443C>G c.7005C>G (p.Arg2335=) | |
11 | g.121187895C>T | CA477209122 | TBCEL-TECTA,TECTA | c.6063C>T (p.Arg2021=) c.6048C>T (p.Arg2016=) c.3355C>T n.2443C>T c.7005C>T (p.Arg2335=) | dbSNP gnomAD v4 |
11 | g.121187896T>A | CA383009659 | TBCEL-TECTA,TECTA | c.6064T>A (p.Phe2022Ile) c.6049T>A (p.Phe2017Ile) c.3356T>A n.2444T>A c.7006T>A (p.Phe2336Ile) | |
11 | g.121187896T>C | CA383009661 | TBCEL-TECTA,TECTA | c.6064T>C (p.Phe2022Leu) c.6049T>C (p.Phe2017Leu) c.3356T>C n.2444T>C c.7006T>C (p.Phe2336Leu) | |
11 | g.121187896T>G | CA383009660 | TBCEL-TECTA,TECTA | c.6064T>G (p.Phe2022Val) c.6049T>G (p.Phe2017Val) c.3356T>G n.2444T>G c.7006T>G (p.Phe2336Val) | |
11 | g.121187897T>A | CA383009662 | TBCEL-TECTA,TECTA | c.6065T>A (p.Phe2022Tyr) c.6050T>A (p.Phe2017Tyr) c.3357T>A n.2445T>A c.7007T>A (p.Phe2336Tyr) | |
11 | g.121187897T>C | CA383009663 | TBCEL-TECTA,TECTA | c.6065T>C (p.Phe2022Ser) c.6050T>C (p.Phe2017Ser) c.3357T>C n.2445T>C c.7007T>C (p.Phe2336Ser) | |
11 | g.121187897T>G | CA383009664 | TBCEL-TECTA,TECTA | c.6065T>G (p.Phe2022Cys) c.6050T>G (p.Phe2017Cys) c.3357T>G n.2445T>G c.7007T>G (p.Phe2336Cys) | |
11 | g.121187898T>A | CA383009665 | TBCEL-TECTA,TECTA | c.6066T>A (p.Phe2022Leu) c.6051T>A (p.Phe2017Leu) c.3358T>A n.2446T>A c.7008T>A (p.Phe2336Leu) | |
11 | g.121187898T>C | CA477209132 | TBCEL-TECTA,TECTA | c.6066T>C (p.Phe2022=) c.6051T>C (p.Phe2017=) c.3358T>C n.2446T>C c.7008T>C (p.Phe2336=) | |
11 | g.121187898T>G | CA383009666 | TBCEL-TECTA,TECTA | c.6066T>G (p.Phe2022Leu) c.6051T>G (p.Phe2017Leu) c.3358T>G n.2446T>G c.7008T>G (p.Phe2336Leu) | |
11 | g.121187899C>A | CA383009667 | TBCEL-TECTA,TECTA | c.6067C>A (p.His2023Asn) c.6052C>A (p.His2018Asn) c.3359C>A n.2447C>A c.7009C>A (p.His2337Asn) | |
11 | g.121187899C>G | CA383009668 | TBCEL-TECTA,TECTA | c.6067C>G (p.His2023Asp) c.6052C>G (p.His2018Asp) c.3359C>G n.2447C>G c.7009C>G (p.His2337Asp) | |
11 | g.121187899C>T | CA383009669 | TBCEL-TECTA,TECTA | c.6067C>T (p.His2023Tyr) c.6052C>T (p.His2018Tyr) c.3359C>T n.2447C>T c.7009C>T (p.His2337Tyr) | |
11 | g.121187900A>C | CA383009670 | TBCEL-TECTA,TECTA | c.6068A>C (p.His2023Pro) c.6053A>C (p.His2018Pro) c.3360A>C n.2448A>C c.7010A>C (p.His2337Pro) | |
11 | g.121187900A>G | CA383009671 | TBCEL-TECTA,TECTA | c.6068A>G (p.His2023Arg) c.6053A>G (p.His2018Arg) c.3360A>G n.2448A>G c.7010A>G (p.His2337Arg) | |
11 | g.121187900A>T | CA383009672 | TBCEL-TECTA,TECTA | c.6068A>T (p.His2023Leu) c.6053A>T (p.His2018Leu) c.3360A>T n.2448A>T c.7010A>T (p.His2337Leu) | |
11 | g.121187901C>A | CA383009674 | TBCEL-TECTA,TECTA | c.6069C>A (p.His2023Gln) c.6054C>A (p.His2018Gln) c.3361C>A n.2449C>A c.7011C>A (p.His2337Gln) | |
11 | g.121187901C= | CA2004763162 | TBCEL-TECTA,TECTA | c.6069C= (p.His2023=) c.6054C= (p.His2018=) c.3361C= n.2449C= c.7011C= (p.His2337=) | |
11 | g.121187901C>G | CA383009673 | TBCEL-TECTA,TECTA | c.6069C>G (p.His2023Gln) c.6054C>G (p.His2018Gln) c.3361C>G n.2449C>G c.7011C>G (p.His2337Gln) | dbSNP |
11 | g.121187901C>T | CA6327875 | TBCEL-TECTA,TECTA | c.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 |
11 | g.121187902G>A | CA6327876 | TBCEL-TECTA,TECTA | c.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 |
11 | g.121187902G>C | CA383009675 | TBCEL-TECTA,TECTA | c.6070G>C (p.Val2024Leu) c.6055G>C (p.Val2019Leu) c.3362G>C n.2450G>C c.7012G>C (p.Val2338Leu) | |
11 | g.121187902G= | CA2004763163 | TBCEL-TECTA,TECTA | c.6070G= (p.Val2024=) c.6055G= (p.Val2019=) c.3362G= n.2450G= c.7012G= (p.Val2338=) | |
11 | g.121187902G>T | CA383009676 | TBCEL-TECTA,TECTA | c.6070G>T (p.Val2024Phe) c.6055G>T (p.Val2019Phe) c.3362G>T n.2450G>T c.7012G>T (p.Val2338Phe) | gnomAD v4 |
11 | g.121187903T>A | CA383009677 | TBCEL-TECTA,TECTA | c.6071T>A (p.Val2024Asp) c.6056T>A (p.Val2019Asp) c.3363T>A n.2451T>A c.7013T>A (p.Val2338Asp) | |
11 | g.121187903T>C | CA383009678 | TBCEL-TECTA,TECTA | c.6071T>C (p.Val2024Ala) c.6056T>C (p.Val2019Ala) c.3363T>C n.2451T>C c.7013T>C (p.Val2338Ala) | |
11 | g.121187903T>G | CA383009679 | TBCEL-TECTA,TECTA | c.6071T>G (p.Val2024Gly) c.6056T>G (p.Val2019Gly) c.3363T>G n.2451T>G c.7013T>G (p.Val2338Gly) | |
11 | g.121187904C>A | CA477209136 | TBCEL-TECTA,TECTA | c.6072C>A (p.Val2024=) c.6057C>A (p.Val2019=) c.3364C>A n.2452C>A c.7014C>A (p.Val2338=) | |
11 | g.121187904C>G | CA477209137 | TBCEL-TECTA,TECTA | c.6072C>G (p.Val2024=) c.6057C>G (p.Val2019=) c.3364C>G n.2452C>G c.7014C>G (p.Val2338=) | |
11 | g.121187904C>T | CA477209139 | TBCEL-TECTA,TECTA | c.6072C>T (p.Val2024=) c.6057C>T (p.Val2019=) c.3364C>T n.2452C>T c.7014C>T (p.Val2338=) | |
11 | g.121187905A>C | CA383009680 | TBCEL-TECTA,TECTA | c.6073A>C (p.Thr2025Pro) c.6058A>C (p.Thr2020Pro) c.3365A>C n.2453A>C c.7015A>C (p.Thr2339Pro) | |
11 | g.121187905A>G | CA383009681 | TBCEL-TECTA,TECTA | c.6073A>G (p.Thr2025Ala) c.6058A>G (p.Thr2020Ala) c.3365A>G n.2453A>G c.7015A>G (p.Thr2339Ala) | |
11 | g.121187905A>T | CA383009682 | TBCEL-TECTA,TECTA | c.6073A>T (p.Thr2025Ser) c.6058A>T (p.Thr2020Ser) c.3365A>T n.2453A>T c.7015A>T (p.Thr2339Ser) | |
11 | g.121187906C>A | CA383009683 | TBCEL-TECTA,TECTA | c.6074C>A (p.Thr2025Asn) c.6059C>A (p.Thr2020Asn) c.3366C>A n.2454C>A c.7016C>A (p.Thr2339Asn) | |
11 | g.121187906C>G | CA383009684 | TBCEL-TECTA,TECTA | c.6074C>G (p.Thr2025Ser) c.6059C>G (p.Thr2020Ser) c.3366C>G n.2454C>G c.7016C>G (p.Thr2339Ser) | |
11 | g.121187906C>T | CA383009685 | TBCEL-TECTA,TECTA | c.6074C>T (p.Thr2025Ile) c.6059C>T (p.Thr2020Ile) c.3366C>T n.2454C>T c.7016C>T (p.Thr2339Ile) | |
11 | g.121187907C>A | CA229828391 | TBCEL-TECTA,TECTA | c.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 |
11 | g.121187907C= | CA2004763164 | TBCEL-TECTA,TECTA | c.6075C= (p.Thr2025=) c.6060C= (p.Thr2020=) c.3367C= n.2455C= c.7017C= (p.Thr2339=) | |
11 | g.121187907C>G | CA477209143 | TBCEL-TECTA,TECTA | c.6075C>G (p.Thr2025=) c.6060C>G (p.Thr2020=) c.3367C>G n.2455C>G c.7017C>G (p.Thr2339=) | |
11 | g.121187907C>T | CA6327877 | TBCEL-TECTA,TECTA | c.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 |
11 | g.121187908G>A | CA6327878 | TBCEL-TECTA,TECTA | c.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 |
11 | g.121187908G>C | CA383009687 | TBCEL-TECTA,TECTA | c.6076G>C (p.Val2026Leu) c.6061G>C (p.Val2021Leu) c.3368G>C n.2456G>C c.7018G>C (p.Val2340Leu) | |
11 | g.121187908G= | CA2004763165 | TBCEL-TECTA,TECTA | c.6076G= (p.Val2026=) c.6061G= (p.Val2021=) c.3368G= n.2456G= c.7018G= (p.Val2340=) | |
11 | g.121187908G>T | CA383009686 | TBCEL-TECTA,TECTA | c.6076G>T (p.Val2026Phe) c.6061G>T (p.Val2021Phe) c.3368G>T n.2456G>T c.7018G>T (p.Val2340Phe) | |
11 | g.121187909T>A | CA383009688 | TBCEL-TECTA,TECTA | c.6077T>A (p.Val2026Asp) c.6062T>A (p.Val2021Asp) c.3369T>A n.2457T>A c.7019T>A (p.Val2340Asp) | |
11 | g.121187909T>C | CA383009689 | TBCEL-TECTA,TECTA | c.6077T>C (p.Val2026Ala) c.6062T>C (p.Val2021Ala) c.3369T>C n.2457T>C c.7019T>C (p.Val2340Ala) | |
11 | g.121187909T>G | CA383009690 | TBCEL-TECTA,TECTA | c.6077T>G (p.Val2026Gly) c.6062T>G (p.Val2021Gly) c.3369T>G n.2457T>G c.7019T>G (p.Val2340Gly) | |
11 | g.121187910C>A | CA477209150 | TBCEL-TECTA,TECTA | c.6078C>A (p.Val2026=) c.6063C>A (p.Val2021=) c.3370C>A n.2458C>A c.7020C>A (p.Val2340=) | |
11 | g.121187910C>G | CA477209151 | TBCEL-TECTA,TECTA | c.6078C>G (p.Val2026=) c.6063C>G (p.Val2021=) c.3370C>G n.2458C>G c.7020C>G (p.Val2340=) | |
11 | g.121187910C>T | CA477209152 | TBCEL-TECTA,TECTA | c.6078C>T (p.Val2026=) c.6063C>T (p.Val2021=) c.3370C>T n.2458C>T c.7020C>T (p.Val2340=) | COSMIC |
11 | g.121187910_121187912delinsCTT | CA2004763166 | TBCEL-TECTA,TECTA | c.6078_6080delinsCTT (p.Val2026=) c.6063_6065delinsCTT (p.Val2021=) c.3370_3372delinsCTT n.2458_2460delinsCTT c.7020_7022delinsCTT (p.Val2340=) | |
11 | g.121187911T>A | CA383009691 | TBCEL-TECTA,TECTA | c.6079T>A (p.Phe2027Ile) c.6064T>A (p.Phe2022Ile) c.3371T>A n.2459T>A c.7021T>A (p.Phe2341Ile) | |
11 | g.121187911T>C | CA383009692 | TBCEL-TECTA,TECTA | c.6079T>C (p.Phe2027Leu) c.6064T>C (p.Phe2022Leu) c.3371T>C n.2459T>C c.7021T>C (p.Phe2341Leu) | |
11 | g.121187911T>G | CA383009693 | TBCEL-TECTA,TECTA | c.6079T>G (p.Phe2027Val) c.6064T>G (p.Phe2022Val) c.3371T>G n.2459T>G c.7021T>G (p.Phe2341Val) | |
11 | g.121187912_121187913del | CA6327879 | TBCEL-TECTA,TECTA | c.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 |
11 | g.121187912T>A | CA383009694 | TBCEL-TECTA,TECTA | c.6080T>A (p.Phe2027Tyr) c.6065T>A (p.Phe2022Tyr) c.3372T>A n.2460T>A c.7022T>A (p.Phe2341Tyr) | |
11 | g.121187912T>C | CA383009695 | TBCEL-TECTA,TECTA | c.6080T>C (p.Phe2027Ser) c.6065T>C (p.Phe2022Ser) c.3372T>C n.2460T>C c.7022T>C (p.Phe2341Ser) | |
11 | g.121187912T>G | CA383009696 | TBCEL-TECTA,TECTA | c.6080T>G (p.Phe2027Cys) c.6065T>G (p.Phe2022Cys) c.3372T>G n.2460T>G c.7022T>G (p.Phe2341Cys) | |
11 | g.121187913T>A | CA383009697 | TBCEL-TECTA,TECTA | c.6081T>A (p.Phe2027Leu) c.6066T>A (p.Phe2022Leu) c.3373T>A n.2461T>A c.7023T>A (p.Phe2341Leu) | |
11 | g.121187913T>C | CA477209160 | TBCEL-TECTA,TECTA | c.6081T>C (p.Phe2027=) c.6066T>C (p.Phe2022=) c.3373T>C n.2461T>C c.7023T>C (p.Phe2341=) | gnomAD v4 |
11 | g.121187913T>G | CA383009698 | TBCEL-TECTA,TECTA | c.6081T>G (p.Phe2027Leu) c.6066T>G (p.Phe2022Leu) c.3373T>G n.2461T>G c.7023T>G (p.Phe2341Leu) | |
11 | g.121187914A>C | CA383009700 | TBCEL-TECTA,TECTA | c.6082A>C (p.Lys2028Gln) c.6067A>C (p.Lys2023Gln) c.3374A>C n.2462A>C c.7024A>C (p.Lys2342Gln) | |
11 | g.121187914A>G | CA383009701 | TBCEL-TECTA,TECTA | c.6082A>G (p.Lys2028Glu) c.6067A>G (p.Lys2023Glu) c.3374A>G n.2462A>G c.7024A>G (p.Lys2342Glu) | |
11 | g.121187914A>T | CA383009699 | TBCEL-TECTA,TECTA | c.6082A>T (p.Lys2028Ter) c.6067A>T (p.Lys2023Ter) c.3374A>T n.2462A>T c.7024A>T (p.Lys2342Ter) | |
11 | g.121187915A>C | CA383009702 | TBCEL-TECTA,TECTA | c.6083A>C (p.Lys2028Thr) c.6068A>C (p.Lys2023Thr) c.3375A>C n.2463A>C c.7025A>C (p.Lys2342Thr) | |
11 | g.121187915A>G | CA383009703 | TBCEL-TECTA,TECTA | c.6083A>G (p.Lys2028Arg) c.6068A>G (p.Lys2023Arg) c.3375A>G n.2463A>G c.7025A>G (p.Lys2342Arg) | |
11 | g.121187915A>T | CA383009704 | TBCEL-TECTA,TECTA | c.6083A>T (p.Lys2028Ile) c.6068A>T (p.Lys2023Ile) c.3375A>T n.2463A>T c.7025A>T (p.Lys2342Ile) | |
11 | g.121187916A>C | CA383009705 | TBCEL-TECTA,TECTA | c.6084A>C (p.Lys2028Asn) c.6069A>C (p.Lys2023Asn) c.3376A>C n.2464A>C c.7026A>C (p.Lys2342Asn) | |
11 | g.121187916A>G | CA477209162 | TBCEL-TECTA,TECTA | c.6084A>G (p.Lys2028=) c.6069A>G (p.Lys2023=) c.3376A>G n.2464A>G c.7026A>G (p.Lys2342=) | gnomAD v4 |
11 | g.121187916A>T | CA383009706 | TBCEL-TECTA,TECTA | c.6084A>T (p.Lys2028Asn) c.6069A>T (p.Lys2023Asn) c.3376A>T n.2464A>T c.7026A>T (p.Lys2342Asn) | |
11 | g.121187917T>A | CA383009707 | TBCEL-TECTA,TECTA | c.6085T>A (p.Phe2029Ile) c.6070T>A (p.Phe2024Ile) c.3377T>A n.2465T>A c.7027T>A (p.Phe2343Ile) | |
11 | g.121187917T>C | CA383009708 | TBCEL-TECTA,TECTA | c.6085T>C (p.Phe2029Leu) c.6070T>C (p.Phe2024Leu) c.3377T>C n.2465T>C c.7027T>C (p.Phe2343Leu) | |
11 | g.121187917T>G | CA383009709 | TBCEL-TECTA,TECTA | c.6085T>G (p.Phe2029Val) c.6070T>G (p.Phe2024Val) c.3377T>G n.2465T>G c.7027T>G (p.Phe2343Val) | |
11 | g.121187918T>A | CA383009710 | TBCEL-TECTA,TECTA | c.6086T>A (p.Phe2029Tyr) c.6071T>A (p.Phe2024Tyr) c.3378T>A n.2466T>A c.7028T>A (p.Phe2343Tyr) | |
11 | g.121187918T>C | CA383009711 | TBCEL-TECTA,TECTA | c.6086T>C (p.Phe2029Ser) c.6071T>C (p.Phe2024Ser) c.3378T>C n.2466T>C c.7028T>C (p.Phe2343Ser) | ClinVar dbSNP |
11 | g.121187918T>G | CA383009712 | TBCEL-TECTA,TECTA | c.6086T>G (p.Phe2029Cys) c.6071T>G (p.Phe2024Cys) c.3378T>G n.2466T>G c.7028T>G (p.Phe2343Cys) | |
11 | g.121187919C>A | CA383009713 | TBCEL-TECTA,TECTA | c.6087C>A (p.Phe2029Leu) c.6072C>A (p.Phe2024Leu) c.3379C>A n.2467C>A c.7029C>A (p.Phe2343Leu) | |
11 | g.121187919C>G | CA383009714 | TBCEL-TECTA,TECTA | c.6087C>G (p.Phe2029Leu) c.6072C>G (p.Phe2024Leu) c.3379C>G n.2467C>G c.7029C>G (p.Phe2343Leu) | |
11 | g.121187919C>T | CA477209166 | TBCEL-TECTA,TECTA | c.6087C>T (p.Phe2029=) c.6072C>T (p.Phe2024=) c.3379C>T n.2467C>T c.7029C>T (p.Phe2343=) | COSMIC |
11 | g.121187920A= | CA2004763167 | TBCEL-TECTA,TECTA | c.6088A= (p.Ile2030=) c.6073A= (p.Ile2025=) c.3380A= n.2468A= c.7030A= (p.Ile2344=) | |
11 | g.121187920A>C | CA383009716 | TBCEL-TECTA,TECTA | c.6088A>C (p.Ile2030Leu) c.6073A>C (p.Ile2025Leu) c.3380A>C n.2468A>C c.7030A>C (p.Ile2344Leu) | |
11 | g.121187920A>G | CA383009715 | TBCEL-TECTA,TECTA | c.6088A>G (p.Ile2030Val) c.6073A>G (p.Ile2025Val) c.3380A>G n.2468A>G c.7030A>G (p.Ile2344Val) | dbSNP gnomAD v4 |
11 | g.121187920A>T | CA6327880 | TBCEL-TECTA,TECTA | c.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 |
11 | g.121187921T>A | CA383009717 | TBCEL-TECTA,TECTA | c.6089T>A (p.Ile2030Lys) c.6074T>A (p.Ile2025Lys) c.3381T>A n.2469T>A c.7031T>A (p.Ile2344Lys) | |
11 | g.121187921T>C | CA10576839 | TBCEL-TECTA,TECTA | c.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 |
11 | g.121187921T>G | CA383009718 | TBCEL-TECTA,TECTA | c.6089T>G (p.Ile2030Arg) c.6074T>G (p.Ile2025Arg) c.3381T>G n.2469T>G c.7031T>G (p.Ile2344Arg) | |
11 | g.121187921T= | CA2004763168 | TBCEL-TECTA,TECTA | c.6089T= (p.Ile2030=) c.6074T= (p.Ile2025=) c.3381T= n.2469T= c.7031T= (p.Ile2344=) | |
11 | g.121187922A>C | CA477209168 | TBCEL-TECTA,TECTA | c.6090A>C (p.Ile2030=) c.6075A>C (p.Ile2025=) c.3382A>C n.2470A>C c.7032A>C (p.Ile2344=) | |
11 | g.121187922A>G | CA383009719 | TBCEL-TECTA,TECTA | c.6090A>G (p.Ile2030Met) c.6075A>G (p.Ile2025Met) c.3382A>G n.2470A>G c.7032A>G (p.Ile2344Met) | |
11 | g.121187922A>T | CA477209169 | TBCEL-TECTA,TECTA | c.6090A>T (p.Ile2030=) c.6075A>T (p.Ile2025=) c.3382A>T n.2470A>T c.7032A>T (p.Ile2344=) | |
11 | g.121187923G>A | CA383009720 | TBCEL-TECTA,TECTA | c.6091G>A (p.Gly2031Arg) c.6076G>A (p.Gly2026Arg) c.3383G>A n.2471G>A c.7033G>A (p.Gly2345Arg) | |
11 | g.121187923G>C | CA383009721 | TBCEL-TECTA,TECTA | c.6091G>C (p.Gly2031Arg) c.6076G>C (p.Gly2026Arg) c.3383G>C n.2471G>C c.7033G>C (p.Gly2345Arg) | |
11 | g.121187923G>T | CA383009722 | TBCEL-TECTA,TECTA | c.6091G>T (p.Gly2031Trp) c.6076G>T (p.Gly2026Trp) c.3383G>T n.2471G>T c.7033G>T (p.Gly2345Trp) | |
11 | g.121187924G>A | CA383009723 | TBCEL-TECTA,TECTA | c.6092G>A (p.Gly2031Glu) c.6077G>A (p.Gly2026Glu) c.3384G>A n.2472G>A c.7034G>A (p.Gly2345Glu) | dbSNP |
11 | g.121187924G>C | CA383009724 | TBCEL-TECTA,TECTA | c.6092G>C (p.Gly2031Ala) c.6077G>C (p.Gly2026Ala) c.3384G>C n.2472G>C c.7034G>C (p.Gly2345Ala) | |
11 | g.121187924G= | CA2004763169 | TBCEL-TECTA,TECTA | c.6092G= (p.Gly2031=) c.6077G= (p.Gly2026=) c.3384G= n.2472G= c.7034G= (p.Gly2345=) | |
11 | g.121187924G>T | CA383009725 | TBCEL-TECTA,TECTA | c.6092G>T (p.Gly2031Val) c.6077G>T (p.Gly2026Val) c.3384G>T n.2472G>T c.7034G>T (p.Gly2345Val) | |
11 | g.121187925G>A | CA477209172 | TBCEL-TECTA,TECTA | c.6093G>A (p.Gly2031=) c.6078G>A (p.Gly2026=) c.3385G>A n.2473G>A c.7035G>A (p.Gly2345=) | |
11 | g.121187925G>C | CA477209174 | TBCEL-TECTA,TECTA | c.6093G>C (p.Gly2031=) c.6078G>C (p.Gly2026=) c.3385G>C n.2473G>C c.7035G>C (p.Gly2345=) | gnomAD v4 |
11 | g.121187925G>T | CA477209173 | TBCEL-TECTA,TECTA | c.6093G>T (p.Gly2031=) c.6078G>T (p.Gly2026=) c.3385G>T n.2473G>T c.7035G>T (p.Gly2345=) | |
11 | g.121187926G>A | CA383009726 | TBCEL-TECTA,TECTA | c.6094G>A (p.Asp2032Asn) c.6079G>A (p.Asp2027Asn) c.3386G>A n.2474G>A c.7036G>A (p.Asp2346Asn) | gnomAD v4 COSMIC |
11 | g.121187926G>C | CA383009727 | TBCEL-TECTA,TECTA | c.6094G>C (p.Asp2032His) c.6079G>C (p.Asp2027His) c.3386G>C n.2474G>C c.7036G>C (p.Asp2346His) | |
11 | g.121187926G= | CA2004763170 | TBCEL-TECTA,TECTA | c.6094G= (p.Asp2032=) c.6079G= (p.Asp2027=) c.3386G= n.2474G= c.7036G= (p.Asp2346=) | |
11 | g.121187926G>T | CA6327881 | TBCEL-TECTA,TECTA | c.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 |
11 | g.121187927A>C | CA383009729 | TBCEL-TECTA,TECTA | c.6095A>C (p.Asp2032Ala) c.6080A>C (p.Asp2027Ala) c.3387A>C n.2475A>C c.7037A>C (p.Asp2346Ala) | |
11 | g.121187927A>G | CA383009730 | TBCEL-TECTA,TECTA | c.6095A>G (p.Asp2032Gly) c.6080A>G (p.Asp2027Gly) c.3387A>G n.2475A>G c.7037A>G (p.Asp2346Gly) | |
11 | g.121187927A>T | CA383009728 | TBCEL-TECTA,TECTA | c.6095A>T (p.Asp2032Val) c.6080A>T (p.Asp2027Val) c.3387A>T n.2475A>T c.7037A>T (p.Asp2346Val) | |
11 | g.121187928T>A | CA383009731 | TBCEL-TECTA,TECTA | c.6096T>A (p.Asp2032Glu) c.6081T>A (p.Asp2027Glu) c.3388T>A n.2476T>A c.7038T>A (p.Asp2346Glu) | |
11 | g.121187928T>C | CA477209175 | TBCEL-TECTA,TECTA | c.6096T>C (p.Asp2032=) c.6081T>C (p.Asp2027=) c.3388T>C n.2476T>C c.7038T>C (p.Asp2346=) | |
11 | g.121187928T>G | CA383009732 | TBCEL-TECTA,TECTA | c.6096T>G (p.Asp2032Glu) c.6081T>G (p.Asp2027Glu) c.3388T>G n.2476T>G c.7038T>G (p.Asp2346Glu) | |
11 | g.121187929T>A | CA383009733 | TBCEL-TECTA,TECTA | c.6097T>A (p.Tyr2033Asn) c.6082T>A (p.Tyr2028Asn) c.3389T>A n.2477T>A c.7039T>A (p.Tyr2347Asn) | |
11 | g.121187929T>C | CA383009735 | TBCEL-TECTA,TECTA | c.6097T>C (p.Tyr2033His) c.6082T>C (p.Tyr2028His) c.3389T>C n.2477T>C c.7039T>C (p.Tyr2347His) | |
11 | g.121187929T>G | CA383009734 | TBCEL-TECTA,TECTA | c.6097T>G (p.Tyr2033Asp) c.6082T>G (p.Tyr2028Asp) c.3389T>G n.2477T>G c.7039T>G (p.Tyr2347Asp) | |
11 | g.121187930A>C | CA383009736 | TBCEL-TECTA,TECTA | c.6098A>C (p.Tyr2033Ser) c.6083A>C (p.Tyr2028Ser) c.3390A>C n.2478A>C c.7040A>C (p.Tyr2347Ser) | |
11 | g.121187930A>G | CA383009737 | TBCEL-TECTA,TECTA | c.6098A>G (p.Tyr2033Cys) c.6083A>G (p.Tyr2028Cys) c.3390A>G n.2478A>G c.7040A>G (p.Tyr2347Cys) | |
11 | g.121187930A>T | CA383009738 | TBCEL-TECTA,TECTA | c.6098A>T (p.Tyr2033Phe) c.6083A>T (p.Tyr2028Phe) c.3390A>T n.2478A>T c.7040A>T (p.Tyr2347Phe) | |
11 | g.121187931del | CA2499220810 | TBCEL-TECTA,TECTA | c.6099del (p.Tyr2033Ter) c.6084del (p.Tyr2028Ter) c.3391del n.2479del c.7041del (p.Tyr2347Ter) | ClinVar dbSNP |
11 | g.121187931C>A | CA383009739 | TBCEL-TECTA,TECTA | c.6099C>A (p.Tyr2033Ter) c.6084C>A (p.Tyr2028Ter) c.3391C>A n.2479C>A c.7041C>A (p.Tyr2347Ter) | |
11 | g.121187931C= | CA2004763171 | TBCEL-TECTA,TECTA | c.6099C= (p.Tyr2033=) c.6084C= (p.Tyr2028=) c.3391C= n.2479C= c.7041C= (p.Tyr2347=) | |
11 | g.121187931C>G | CA383009740 | TBCEL-TECTA,TECTA | c.6099C>G (p.Tyr2033Ter) c.6084C>G (p.Tyr2028Ter) c.3391C>G n.2479C>G c.7041C>G (p.Tyr2347Ter) | |
11 | g.121187931C>T | CA6327882 | TBCEL-TECTA,TECTA | c.6099C>T (p.Tyr2033=) c.6084C>T (p.Tyr2028=) c.3391C>T n.2479C>T c.7041C>T (p.Tyr2347=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121187932G>A | CA6327883 | TBCEL-TECTA,TECTA | c.6100G>A (p.Asp2034Asn) c.6085G>A (p.Asp2029Asn) c.3392G>A n.2480G>A c.7042G>A (p.Asp2348Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121187932G>C | CA383009741 | TBCEL-TECTA,TECTA | c.6100G>C (p.Asp2034His) c.6085G>C (p.Asp2029His) c.3392G>C n.2480G>C c.7042G>C (p.Asp2348His) | |
11 | g.121187932G= | CA2004763172 | TBCEL-TECTA,TECTA | c.6100G= (p.Asp2034=) c.6085G= (p.Asp2029=) c.3392G= n.2480G= c.7042G= (p.Asp2348=) | |
11 | g.121187932G>T | CA383009742 | TBCEL-TECTA,TECTA | c.6100G>T (p.Asp2034Tyr) c.6085G>T (p.Asp2029Tyr) c.3392G>T n.2480G>T c.7042G>T (p.Asp2348Tyr) |