UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.121137452G>A | CA477382349 | TBCEL-TECTA,TECTA | c.2973G>A (p.Glu991=) c.280G>A c.3930G>A (p.Glu1310=) | |
| 11 | g.121137452G>C | CA383018286 | TBCEL-TECTA,TECTA | c.2973G>C (p.Glu991Asp) c.280G>C c.3930G>C (p.Glu1310Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121137452G= | CA2004733654 | TBCEL-TECTA,TECTA | c.2973G= (p.Glu991=) c.280G= c.3930G= (p.Glu1310=) | |
| 11 | g.121137452G>T | CA383018287 | TBCEL-TECTA,TECTA | c.2973G>T (p.Glu991Asp) c.280G>T c.3930G>T (p.Glu1310Asp) | dbSNP gnomAD v4 |
| 11 | g.121137453G>A | CA383018288 | TBCEL-TECTA,TECTA | c.2974G>A (p.Glu992Lys) c.281G>A c.3931G>A (p.Glu1311Lys) | |
| 11 | g.121137453G>C | CA383018290 | TBCEL-TECTA,TECTA | c.2974G>C (p.Glu992Gln) c.281G>C c.3931G>C (p.Glu1311Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121137453G= | CA2004733655 | TBCEL-TECTA,TECTA | c.2974G= (p.Glu992=) c.281G= c.3931G= (p.Glu1311=) | |
| 11 | g.121137453G>T | CA383018289 | TBCEL-TECTA,TECTA | c.2974G>T (p.Glu992Ter) c.281G>T c.3931G>T (p.Glu1311Ter) | |
| 11 | g.121137454A= | CA2004733657 | TBCEL-TECTA,TECTA | c.2975A= (p.Glu992=) c.282A= c.3932A= (p.Glu1311=) | |
| 11 | g.121137454A>C | CA383018292 | TBCEL-TECTA,TECTA | c.2975A>C (p.Glu992Ala) c.282A>C c.3932A>C (p.Glu1311Ala) | |
| 11 | g.121137454A>G | CA6327131 | TBCEL-TECTA,TECTA | c.2975A>G (p.Glu992Gly) c.282A>G c.3932A>G (p.Glu1311Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121137454A>T | CA383018294 | TBCEL-TECTA,TECTA | c.2975A>T (p.Glu992Val) c.282A>T c.3932A>T (p.Glu1311Val) | |
| 11 | g.121137455G>A | CA477382351 | TBCEL-TECTA,TECTA | c.2976G>A (p.Glu992=) c.283G>A c.3933G>A (p.Glu1311=) | dbSNP |
| 11 | g.121137455G>C | CA383018297 | TBCEL-TECTA,TECTA | c.2976G>C (p.Glu992Asp) c.283G>C c.3933G>C (p.Glu1311Asp) | |
| 11 | g.121137455G= | CA2004733658 | TBCEL-TECTA,TECTA | c.2976G= (p.Glu992=) c.283G= c.3933G= (p.Glu1311=) | |
| 11 | g.121137455G>T | CA383018299 | TBCEL-TECTA,TECTA | c.2976G>T (p.Glu992Asp) c.283G>T c.3933G>T (p.Glu1311Asp) | |
| 11 | g.121137456T>A | CA383018301 | TBCEL-TECTA,TECTA | c.2977T>A (p.Cys993Ser) c.284T>A c.3934T>A (p.Cys1312Ser) | |
| 11 | g.121137456T>C | CA383018303 | TBCEL-TECTA,TECTA | c.2977T>C (p.Cys993Arg) c.284T>C c.3934T>C (p.Cys1312Arg) | COSMIC |
| 11 | g.121137456T>G | CA383018305 | TBCEL-TECTA,TECTA | c.2977T>G (p.Cys993Gly) c.284T>G c.3934T>G (p.Cys1312Gly) | |
| 11 | g.121137457G>A | CA383018311 | TBCEL-TECTA,TECTA | c.2978G>A (p.Cys993Tyr) c.285G>A c.3935G>A (p.Cys1312Tyr) | COSMIC |
| 11 | g.121137457G>C | CA383018308 | TBCEL-TECTA,TECTA | c.2978G>C (p.Cys993Ser) c.285G>C c.3935G>C (p.Cys1312Ser) | |
| 11 | g.121137457G>T | CA383018306 | TBCEL-TECTA,TECTA | c.2978G>T (p.Cys993Phe) c.285G>T c.3935G>T (p.Cys1312Phe) | |
| 11 | g.121137458C>A | CA383018313 | TBCEL-TECTA,TECTA | c.2979C>A (p.Cys993Ter) c.286C>A c.3936C>A (p.Cys1312Ter) | |
| 11 | g.121137458C= | CA2004733660 | TBCEL-TECTA,TECTA | c.2979C= (p.Cys993=) c.286C= c.3936C= (p.Cys1312=) | |
| 11 | g.121137458C>G | CA383018315 | TBCEL-TECTA,TECTA | c.2979C>G (p.Cys993Trp) c.286C>G c.3936C>G (p.Cys1312Trp) | |
| 11 | g.121137458C>T | CA6327132 | TBCEL-TECTA,TECTA | c.2979C>T (p.Cys993=) c.286C>T c.3936C>T (p.Cys1312=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121137459A= | CA2004733662 | TBCEL-TECTA,TECTA | c.2980A= (p.Ile994=) c.287A= c.3937A= (p.Ile1313=) | |
| 11 | g.121137459A>C | CA383018319 | TBCEL-TECTA,TECTA | c.2980A>C (p.Ile994Leu) c.287A>C c.3937A>C (p.Ile1313Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.121137459A>G | CA383018320 | TBCEL-TECTA,TECTA | c.2980A>G (p.Ile994Val) c.287A>G c.3937A>G (p.Ile1313Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121137459A>T | CA383018322 | TBCEL-TECTA,TECTA | c.2980A>T (p.Ile994Phe) c.287A>T c.3937A>T (p.Ile1313Phe) | |
| 11 | g.121137460T>A | CA383018325 | TBCEL-TECTA,TECTA | c.2981T>A (p.Ile994Asn) c.288T>A c.3938T>A (p.Ile1313Asn) | |
| 11 | g.121137460T>C | CA383018328 | TBCEL-TECTA,TECTA | c.2981T>C (p.Ile994Thr) c.288T>C c.3938T>C (p.Ile1313Thr) | |
| 11 | g.121137460T>G | CA383018327 | TBCEL-TECTA,TECTA | c.2981T>G (p.Ile994Ser) c.288T>G c.3938T>G (p.Ile1313Ser) | |
| 11 | g.121137461C>A | CA477382354 | TBCEL-TECTA,TECTA | c.2982C>A (p.Ile994=) c.289C>A c.3939C>A (p.Ile1313=) | |
| 11 | g.121137461C>G | CA383018331 | TBCEL-TECTA,TECTA | c.2982C>G (p.Ile994Met) c.289C>G c.3939C>G (p.Ile1313Met) | |
| 11 | g.121137461C>T | CA477382355 | TBCEL-TECTA,TECTA | c.2982C>T (p.Ile994=) c.289C>T c.3939C>T (p.Ile1313=) | COSMIC |
| 11 | g.121137462A>C | CA383018333 | TBCEL-TECTA,TECTA | c.2983A>C (p.Thr995Pro) c.290A>C c.3940A>C (p.Thr1314Pro) | gnomAD v4 |
| 11 | g.121137462A>G | CA383018335 | TBCEL-TECTA,TECTA | c.2983A>G (p.Thr995Ala) c.290A>G c.3940A>G (p.Thr1314Ala) | |
| 11 | g.121137462A>T | CA383018336 | TBCEL-TECTA,TECTA | c.2983A>T (p.Thr995Ser) c.290A>T c.3940A>T (p.Thr1314Ser) | |
| 11 | g.121137463C>A | CA383018339 | TBCEL-TECTA,TECTA | c.2984C>A (p.Thr995Lys) c.291C>A c.3941C>A (p.Thr1314Lys) | COSMIC |
| 11 | g.121137463C= | CA2004733664 | TBCEL-TECTA,TECTA | c.2984C= (p.Thr995=) c.291C= c.3941C= (p.Thr1314=) | |
| 11 | g.121137463C>G | CA383018341 | TBCEL-TECTA,TECTA | c.2984C>G (p.Thr995Arg) c.291C>G c.3941C>G (p.Thr1314Arg) | |
| 11 | g.121137463C>T | CA6327133 | TBCEL-TECTA,TECTA | c.2984C>T (p.Thr995Ile) c.291C>T c.3941C>T (p.Thr1314Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121137464A= | CA2004733666 | TBCEL-TECTA,TECTA | c.2985A= (p.Thr995=) c.292A= c.3942A= (p.Thr1314=) | |
| 11 | g.121137464A>C | CA477382358 | TBCEL-TECTA,TECTA | c.2985A>C (p.Thr995=) c.292A>C c.3942A>C (p.Thr1314=) | |
| 11 | g.121137464A>G | CA6327134 | TBCEL-TECTA,TECTA | c.2985A>G (p.Thr995=) c.292A>G c.3942A>G (p.Thr1314=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121137464A>T | CA477382359 | TBCEL-TECTA,TECTA | c.2985A>T (p.Thr995=) c.292A>T c.3942A>T (p.Thr1314=) | |
| 11 | g.121137465T>A | CA383018345 | TBCEL-TECTA,TECTA | c.2986T>A (p.Cys996Ser) c.293T>A c.3943T>A (p.Cys1315Ser) | |
| 11 | g.121137465T>C | CA383018347 | TBCEL-TECTA,TECTA | c.2986T>C (p.Cys996Arg) c.293T>C c.3943T>C (p.Cys1315Arg) | |
| 11 | g.121137465T>G | CA383018348 | TBCEL-TECTA,TECTA | c.2986T>G (p.Cys996Gly) c.293T>G c.3943T>G (p.Cys1315Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121137465T= | CA2004733668 | TBCEL-TECTA,TECTA | c.2986T= (p.Cys996=) c.293T= c.3943T= (p.Cys1315=) | |
| 11 | g.121137466G>A | CA383018351 | TBCEL-TECTA,TECTA | c.2987G>A (p.Cys996Tyr) c.294G>A c.3944G>A (p.Cys1315Tyr) | dbSNP |
| 11 | g.121137466G>C | CA383018355 | TBCEL-TECTA,TECTA | c.2987G>C (p.Cys996Ser) c.294G>C c.3944G>C (p.Cys1315Ser) | ClinVar dbSNP |
| 11 | g.121137466G= | CA2004733670 | TBCEL-TECTA,TECTA | c.2987G= (p.Cys996=) c.294G= c.3944G= (p.Cys1315=) | |
| 11 | g.121137466G>T | CA383018353 | TBCEL-TECTA,TECTA | c.2987G>T (p.Cys996Phe) c.294G>T c.3944G>T (p.Cys1315Phe) | |
| 11 | g.121137467T>A | CA383018358 | TBCEL-TECTA,TECTA | c.2988T>A (p.Cys996Ter) c.295T>A c.3945T>A (p.Cys1315Ter) | gnomAD v4 |
| 11 | g.121137467T>C | CA477382363 | TBCEL-TECTA,TECTA | c.2988T>C (p.Cys996=) c.295T>C c.3945T>C (p.Cys1315=) | |
| 11 | g.121137467T>G | CA383018359 | TBCEL-TECTA,TECTA | c.2988T>G (p.Cys996Trp) c.295T>G c.3945T>G (p.Cys1315Trp) | |
| 11 | g.121137468A>C | CA383018362 | TBCEL-TECTA,TECTA | c.2989A>C (p.Thr997Pro) c.296A>C c.3946A>C (p.Thr1316Pro) | |
| 11 | g.121137468A>G | CA383018364 | TBCEL-TECTA,TECTA | c.2989A>G (p.Thr997Ala) c.296A>G c.3946A>G (p.Thr1316Ala) | gnomAD v4 |
| 11 | g.121137468A>T | CA383018365 | TBCEL-TECTA,TECTA | c.2989A>T (p.Thr997Ser) c.296A>T c.3946A>T (p.Thr1316Ser) | |
| 11 | g.121137469C>A | CA383018368 | TBCEL-TECTA,TECTA | c.2990C>A (p.Thr997Lys) c.297C>A c.3947C>A (p.Thr1316Lys) | |
| 11 | g.121137469C= | CA2004733672 | TBCEL-TECTA,TECTA | c.2990C= (p.Thr997=) c.297C= c.3947C= (p.Thr1316=) | |
| 11 | g.121137469C>G | CA383018370 | TBCEL-TECTA,TECTA | c.2990C>G (p.Thr997Arg) c.297C>G c.3947C>G (p.Thr1316Arg) | |
| 11 | g.121137469C>T | CA229825345 | TBCEL-TECTA,TECTA | c.2990C>T (p.Thr997Ile) c.297C>T c.3947C>T (p.Thr1316Ile) | dbSNP gnomAD v4 |
| 11 | g.121137470A>C | CA477382366 | TBCEL-TECTA,TECTA | c.2991A>C (p.Thr997=) c.298A>C c.3948A>C (p.Thr1316=) | |
| 11 | g.121137470A>G | CA477382370 | TBCEL-TECTA,TECTA | c.2991A>G (p.Thr997=) c.298A>G c.3948A>G (p.Thr1316=) | |
| 11 | g.121137470A>T | CA477382364 | TBCEL-TECTA,TECTA | c.2991A>T (p.Thr997=) c.298A>T c.3948A>T (p.Thr1316=) | |
| 11 | g.121137471G>A | CA383018374 | TBCEL-TECTA,TECTA | c.2992G>A (p.Glu998Lys) c.299G>A c.3949G>A (p.Glu1317Lys) | |
| 11 | g.121137471G>C | CA383018376 | TBCEL-TECTA,TECTA | c.2992G>C (p.Glu998Gln) c.299G>C c.3949G>C (p.Glu1317Gln) | |
| 11 | g.121137471G>T | CA383018378 | TBCEL-TECTA,TECTA | c.2992G>T (p.Glu998Ter) c.299G>T c.3949G>T (p.Glu1317Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.121137472A>C | CA383018384 | TBCEL-TECTA,TECTA | c.2993A>C (p.Glu998Ala) c.300A>C c.3950A>C (p.Glu1317Ala) | |
| 11 | g.121137472A>G | CA383018380 | TBCEL-TECTA,TECTA | c.2993A>G (p.Glu998Gly) c.300A>G c.3950A>G (p.Glu1317Gly) | |
| 11 | g.121137472A>T | CA383018382 | TBCEL-TECTA,TECTA | c.2993A>T (p.Glu998Val) c.300A>T c.3950A>T (p.Glu1317Val) | |
| 11 | g.121137473G>A | CA477382375 | TBCEL-TECTA,TECTA | c.2994G>A (p.Glu998=) c.301G>A c.3951G>A (p.Glu1317=) | |
| 11 | g.121137473G>C | CA383018385 | TBCEL-TECTA,TECTA | c.2994G>C (p.Glu998Asp) c.301G>C c.3951G>C (p.Glu1317Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121137473G= | CA2004733675 | TBCEL-TECTA,TECTA | c.2994G= (p.Glu998=) c.301G= c.3951G= (p.Glu1317=) | |
| 11 | g.121137473G>T | CA383018386 | TBCEL-TECTA,TECTA | c.2994G>T (p.Glu998Asp) c.301G>T c.3951G>T (p.Glu1317Asp) | |
| 11 | g.121137474A= | CA2004733676 | TBCEL-TECTA,TECTA | c.2995A= (p.Thr999=) c.302A= c.3952A= (p.Thr1318=) | |
| 11 | g.121137474A>C | CA383018389 | TBCEL-TECTA,TECTA | c.2995A>C (p.Thr999Pro) c.302A>C c.3952A>C (p.Thr1318Pro) | |
| 11 | g.121137474A>G | CA383018391 | TBCEL-TECTA,TECTA | c.2995A>G (p.Thr999Ala) c.302A>G c.3952A>G (p.Thr1318Ala) | ClinVar dbSNP gnomAD v4 |
| 11 | g.121137474A>T | CA383018392 | TBCEL-TECTA,TECTA | c.2995A>T (p.Thr999Ser) c.302A>T c.3952A>T (p.Thr1318Ser) | |
| 11 | g.121137475C>A | CA383018395 | TBCEL-TECTA,TECTA | c.2996C>A (p.Thr999Asn) c.303C>A c.3953C>A (p.Thr1318Asn) | |
| 11 | g.121137475C= | CA2004733678 | TBCEL-TECTA,TECTA | c.2996C= (p.Thr999=) c.303C= c.3953C= (p.Thr1318=) | |
| 11 | g.121137475C>G | CA383018397 | TBCEL-TECTA,TECTA | c.2996C>G (p.Thr999Ser) c.303C>G c.3953C>G (p.Thr1318Ser) | |
| 11 | g.121137475C>T | CA6327135 | TBCEL-TECTA,TECTA | c.2996C>T (p.Thr999Ile) c.303C>T c.3953C>T (p.Thr1318Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121137476C>A | CA477382383 | TBCEL-TECTA,TECTA | c.2997C>A (p.Thr999=) c.304C>A c.3954C>A (p.Thr1318=) | |
| 11 | g.121137476C= | CA2004733680 | TBCEL-TECTA,TECTA | c.2997C= (p.Thr999=) c.304C= c.3954C= (p.Thr1318=) | |
| 11 | g.121137476C>G | CA477382384 | TBCEL-TECTA,TECTA | c.2997C>G (p.Thr999=) c.304C>G c.3954C>G (p.Thr1318=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.121137476C>T | CA477382381 | TBCEL-TECTA,TECTA | c.2997C>T (p.Thr999=) c.304C>T c.3954C>T (p.Thr1318=) | |
| 11 | g.121137477T>A | CA383018401 | TBCEL-TECTA,TECTA | c.2998T>A (p.Cys1000Ser) c.305T>A c.3955T>A (p.Cys1319Ser) | |
| 11 | g.121137477T>C | CA383018402 | TBCEL-TECTA,TECTA | c.2998T>C (p.Cys1000Arg) c.305T>C c.3955T>C (p.Cys1319Arg) | |
| 11 | g.121137477T>G | CA383018403 | TBCEL-TECTA,TECTA | c.2998T>G (p.Cys1000Gly) c.305T>G c.3955T>G (p.Cys1319Gly) | |
| 11 | g.121137478G>A | CA383018408 | TBCEL-TECTA,TECTA | c.2999G>A (p.Cys1000Tyr) c.306G>A c.3956G>A (p.Cys1319Tyr) | |
| 11 | g.121137478G>C | CA383018409 | TBCEL-TECTA,TECTA | c.2999G>C (p.Cys1000Ser) c.306G>C c.3956G>C (p.Cys1319Ser) | |
| 11 | g.121137478G>T | CA383018406 | TBCEL-TECTA,TECTA | c.2999G>T (p.Cys1000Phe) c.306G>T c.3956G>T (p.Cys1319Phe) | |
| 11 | g.121137479T>A | CA383018413 | TBCEL-TECTA,TECTA | c.3000T>A (p.Cys1000Ter) c.307T>A c.3957T>A (p.Cys1319Ter) | |
| 11 | g.121137479T>C | CA477382387 | TBCEL-TECTA,TECTA | c.3000T>C (p.Cys1000=) c.307T>C c.3957T>C (p.Cys1319=) | |
| 11 | g.121137479T>G | CA383018411 | TBCEL-TECTA,TECTA | c.3000T>G (p.Cys1000Trp) c.307T>G c.3957T>G (p.Cys1319Trp) | gnomAD v4 |
| 11 | g.121137480G>A | CA383018416 | TBCEL-TECTA,TECTA | c.3001G>A (p.Glu1001Lys) c.308G>A c.3958G>A (p.Glu1320Lys) | COSMIC |
| 11 | g.121137480G>C | CA383018417 | TBCEL-TECTA,TECTA | c.3001G>C (p.Glu1001Gln) c.308G>C c.3958G>C (p.Glu1320Gln) | COSMIC |
| 11 | g.121137480G>T | CA383018419 | TBCEL-TECTA,TECTA | c.3001G>T (p.Glu1001Ter) c.308G>T c.3958G>T (p.Glu1320Ter) | |
| 11 | g.121137481A>C | CA383018422 | TBCEL-TECTA,TECTA | c.3002A>C (p.Glu1001Ala) c.309A>C c.3959A>C (p.Glu1320Ala) | |
| 11 | g.121137481A>G | CA383018424 | TBCEL-TECTA,TECTA | c.3002A>G (p.Glu1001Gly) c.309A>G c.3959A>G (p.Glu1320Gly) | |
| 11 | g.121137481A>T | CA383018426 | TBCEL-TECTA,TECTA | c.3002A>T (p.Glu1001Val) c.309A>T c.3959A>T (p.Glu1320Val) | |
| 11 | g.121137482G>A | CA477382394 | TBCEL-TECTA,TECTA | c.3003G>A (p.Glu1001=) c.310G>A c.3960G>A (p.Glu1320=) | |
| 11 | g.121137482G>C | CA383018428 | TBCEL-TECTA,TECTA | c.3003G>C (p.Glu1001Asp) c.310G>C c.3960G>C (p.Glu1320Asp) | |
| 11 | g.121137482G>T | CA383018430 | TBCEL-TECTA,TECTA | c.3003G>T (p.Glu1001Asp) c.310G>T c.3960G>T (p.Glu1320Asp) | |
| 11 | g.121137483A= | CA2004733682 | TBCEL-TECTA,TECTA | c.3004A= (p.Thr1002=) c.311A= c.3961A= (p.Thr1321=) | |
| 11 | g.121137483A>C | CA383018432 | TBCEL-TECTA,TECTA | c.3004A>C (p.Thr1002Pro) c.311A>C c.3961A>C (p.Thr1321Pro) | |
| 11 | g.121137483A>G | CA383018434 | TBCEL-TECTA,TECTA | c.3004A>G (p.Thr1002Ala) c.311A>G c.3961A>G (p.Thr1321Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121137483A>T | CA383018436 | TBCEL-TECTA,TECTA | c.3004A>T (p.Thr1002Ser) c.311A>T c.3961A>T (p.Thr1321Ser) | |
| 11 | g.121137484C>A | CA6327136 | TBCEL-TECTA,TECTA | c.3005C>A (p.Thr1002Asn) c.312C>A c.3962C>A (p.Thr1321Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121137484C= | CA2004733684 | TBCEL-TECTA,TECTA | c.3005C= (p.Thr1002=) c.312C= c.3962C= (p.Thr1321=) | |
| 11 | g.121137484C>G | CA383018441 | TBCEL-TECTA,TECTA | c.3005C>G (p.Thr1002Ser) c.312C>G c.3962C>G (p.Thr1321Ser) | |
| 11 | g.121137484C>T | CA383018438 | TBCEL-TECTA,TECTA | c.3005C>T (p.Thr1002Ile) c.312C>T c.3962C>T (p.Thr1321Ile) | dbSNP |
| 11 | g.121137485C>A | CA477382401 | TBCEL-TECTA,TECTA | c.3006C>A (p.Thr1002=) c.313C>A c.3963C>A (p.Thr1321=) | |
| 11 | g.121137485C= | CA2004733687 | TBCEL-TECTA,TECTA | c.3006C= (p.Thr1002=) c.313C= c.3963C= (p.Thr1321=) | |
| 11 | g.121137485C>G | CA6327137 | TBCEL-TECTA,TECTA | c.3006C>G (p.Thr1002=) c.313C>G c.3963C>G (p.Thr1321=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121137485C>T | CA477382403 | TBCEL-TECTA,TECTA | c.3006C>T (p.Thr1002=) c.313C>T c.3963C>T (p.Thr1321=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121137486C>A | CA383018446 | TBCEL-TECTA,TECTA | c.3007C>A (p.Leu1003Ile) c.314C>A c.3964C>A (p.Leu1322Ile) | |
| 11 | g.121137486C>G | CA383018447 | TBCEL-TECTA,TECTA | c.3007C>G (p.Leu1003Val) c.314C>G c.3964C>G (p.Leu1322Val) | |
| 11 | g.121137486C>T | CA383018449 | TBCEL-TECTA,TECTA | c.3007C>T (p.Leu1003Phe) c.314C>T c.3964C>T (p.Leu1322Phe) | |
| 11 | g.121137487T>A | CA383018452 | TBCEL-TECTA,TECTA | c.3008T>A (p.Leu1003His) c.315T>A c.3965T>A (p.Leu1322His) | |
| 11 | g.121137487T>C | CA383018454 | TBCEL-TECTA,TECTA | c.3008T>C (p.Leu1003Pro) c.315T>C c.3965T>C (p.Leu1322Pro) | gnomAD v4 |
| 11 | g.121137487T>G | CA383018456 | TBCEL-TECTA,TECTA | c.3008T>G (p.Leu1003Arg) c.315T>G c.3965T>G (p.Leu1322Arg) | |
| 11 | g.121137488T>A | CA477382407 | TBCEL-TECTA,TECTA | c.3009T>A (p.Leu1003=) c.316T>A c.3966T>A (p.Leu1322=) | |
| 11 | g.121137488T>C | CA477382409 | TBCEL-TECTA,TECTA | c.3009T>C (p.Leu1003=) c.316T>C c.3966T>C (p.Leu1322=) | gnomAD v4 |
| 11 | g.121137488T>G | CA477382410 | TBCEL-TECTA,TECTA | c.3009T>G (p.Leu1003=) c.316T>G c.3966T>G (p.Leu1322=) | |
| 11 | g.121137489A= | CA2004733689 | TBCEL-TECTA,TECTA | c.3010A= (p.Thr1004=) c.317A= c.3967A= (p.Thr1323=) | |
| 11 | g.121137489A>C | CA383018458 | TBCEL-TECTA,TECTA | c.3010A>C (p.Thr1004Pro) c.317A>C c.3967A>C (p.Thr1323Pro) | dbSNP |
| 11 | g.121137489A>G | CA383018460 | TBCEL-TECTA,TECTA | c.3010A>G (p.Thr1004Ala) c.317A>G c.3967A>G (p.Thr1323Ala) | dbSNP |
| 11 | g.121137489A>T | CA383018462 | TBCEL-TECTA,TECTA | c.3010A>T (p.Thr1004Ser) c.317A>T c.3967A>T (p.Thr1323Ser) | |
| 11 | g.121137490C>A | CA383018464 | TBCEL-TECTA,TECTA | c.3011C>A (p.Thr1004Asn) c.318C>A c.3968C>A (p.Thr1323Asn) | dbSNP |
| 11 | g.121137490C= | CA2004733691 | TBCEL-TECTA,TECTA | c.3011C= (p.Thr1004=) c.318C= c.3968C= (p.Thr1323=) | |
| 11 | g.121137490C>G | CA383018466 | TBCEL-TECTA,TECTA | c.3011C>G (p.Thr1004Ser) c.318C>G c.3968C>G (p.Thr1323Ser) | |
| 11 | g.121137490C>T | CA383018468 | TBCEL-TECTA,TECTA | c.3011C>T (p.Thr1004Ile) c.318C>T c.3968C>T (p.Thr1323Ile) | gnomAD v4 |
| 11 | g.121137491C>A | CA477382415 | TBCEL-TECTA,TECTA | c.3012C>A (p.Thr1004=) c.319C>A c.3969C>A (p.Thr1323=) | |
| 11 | g.121137491C= | CA2004733692 | TBCEL-TECTA,TECTA | c.3012C= (p.Thr1004=) c.319C= c.3969C= (p.Thr1323=) | |
| 11 | g.121137491C>G | CA136040 | TBCEL-TECTA,TECTA | c.3012C>G (p.Thr1004=) c.319C>G c.3969C>G (p.Thr1323=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121137491C>T | CA477382419 | TBCEL-TECTA,TECTA | c.3012C>T (p.Thr1004=) c.319C>T c.3969C>T (p.Thr1323=) | |
| 11 | g.121137492C>A | CA383018473 | TBCEL-TECTA,TECTA | c.3013C>A (p.Leu1005Met) c.320C>A c.3970C>A (p.Leu1324Met) | |
| 11 | g.121137492C>G | CA383018472 | TBCEL-TECTA,TECTA | c.3013C>G (p.Leu1005Val) c.320C>G c.3970C>G (p.Leu1324Val) | |
| 11 | g.121137492C>T | CA477382420 | TBCEL-TECTA,TECTA | c.3013C>T (p.Leu1005=) c.320C>T c.3970C>T (p.Leu1324=) | |
| 11 | g.121137493T>A | CA383018476 | TBCEL-TECTA,TECTA | c.3014T>A (p.Leu1005Gln) c.321T>A c.3971T>A (p.Leu1324Gln) | |
| 11 | g.121137493T>C | CA383018478 | TBCEL-TECTA,TECTA | c.3014T>C (p.Leu1005Pro) c.321T>C c.3971T>C (p.Leu1324Pro) | |
| 11 | g.121137493T>G | CA383018480 | TBCEL-TECTA,TECTA | c.3014T>G (p.Leu1005Arg) c.321T>G c.3971T>G (p.Leu1324Arg) | |
| 11 | g.121137494G>A | CA6327138 | TBCEL-TECTA,TECTA | c.3015G>A (p.Leu1005=) c.322G>A c.3972G>A (p.Leu1324=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121137494G>C | CA477382425 | TBCEL-TECTA,TECTA | c.3015G>C (p.Leu1005=) c.322G>C c.3972G>C (p.Leu1324=) | |
| 11 | g.121137494G= | CA2004733695 | TBCEL-TECTA,TECTA | c.3015G= (p.Leu1005=) c.322G= c.3972G= (p.Leu1324=) | |
| 11 | g.121137494G>T | CA477382426 | TBCEL-TECTA,TECTA | c.3015G>T (p.Leu1005=) c.322G>T c.3972G>T (p.Leu1324=) | |
| 11 | g.121137495G>A | CA6327139 | TBCEL-TECTA,TECTA | c.3016G>A (p.Gly1006Ser) c.323G>A c.3973G>A (p.Gly1325Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121137495G>C | CA383018486 | TBCEL-TECTA,TECTA | c.3016G>C (p.Gly1006Arg) c.323G>C c.3973G>C (p.Gly1325Arg) | |
| 11 | g.121137495G= | CA2004733697 | TBCEL-TECTA,TECTA | c.3016G= (p.Gly1006=) c.323G= c.3973G= (p.Gly1325=) | |
| 11 | g.121137495G>T | CA383018483 | TBCEL-TECTA,TECTA | c.3016G>T (p.Gly1006Cys) c.323G>T c.3973G>T (p.Gly1325Cys) | gnomAD v4 |
| 11 | g.121137496G>A | CA383018490 | TBCEL-TECTA,TECTA | c.3017G>A (p.Gly1006Asp) c.324G>A c.3974G>A (p.Gly1325Asp) | |
| 11 | g.121137496G>C | CA383018492 | TBCEL-TECTA,TECTA | c.3017G>C (p.Gly1006Ala) c.324G>C c.3974G>C (p.Gly1325Ala) | |
| 11 | g.121137496G>T | CA383018493 | TBCEL-TECTA,TECTA | c.3017G>T (p.Gly1006Val) c.324G>T c.3974G>T (p.Gly1325Val) | |
| 11 | g.121137497C>A | CA477382429 | TBCEL-TECTA,TECTA | c.3018C>A (p.Gly1006=) c.325C>A c.3975C>A (p.Gly1325=) | |
| 11 | g.121137497C= | CA2004733698 | TBCEL-TECTA,TECTA | c.3018C= (p.Gly1006=) c.325C= c.3975C= (p.Gly1325=) | |
| 11 | g.121137497C>G | CA477382430 | TBCEL-TECTA,TECTA | c.3018C>G (p.Gly1006=) c.325C>G c.3975C>G (p.Gly1325=) | |
| 11 | g.121137497C>T | CA477382431 | TBCEL-TECTA,TECTA | c.3018C>T (p.Gly1006=) c.325C>T c.3975C>T (p.Gly1325=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.121137498C>A | CA383018496 | TBCEL-TECTA,TECTA | c.3019C>A (p.Pro1007Thr) c.326C>A c.3976C>A (p.Pro1326Thr) | |
| 11 | g.121137498C= | CA2004733700 | TBCEL-TECTA,TECTA | c.3019C= (p.Pro1007=) c.326C= c.3976C= (p.Pro1326=) | |
| 11 | g.121137498C>G | CA229825360 | TBCEL-TECTA,TECTA | c.3019C>G (p.Pro1007Ala) c.326C>G c.3976C>G (p.Pro1326Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121137498C>T | CA383018499 | TBCEL-TECTA,TECTA | c.3019C>T (p.Pro1007Ser) c.326C>T c.3976C>T (p.Pro1326Ser) | |
| 11 | g.121137499C>A | CA383018502 | TBCEL-TECTA,TECTA | c.3020C>A (p.Pro1007His) c.327C>A c.3977C>A (p.Pro1326His) | |
| 11 | g.121137499C>G | CA383018505 | TBCEL-TECTA,TECTA | c.3020C>G (p.Pro1007Arg) c.327C>G c.3977C>G (p.Pro1326Arg) | |
| 11 | g.121137499C>T | CA383018503 | TBCEL-TECTA,TECTA | c.3020C>T (p.Pro1007Leu) c.327C>T c.3977C>T (p.Pro1326Leu) | dbSNP |
| 11 | g.121137500C>A | CA477382436 | TBCEL-TECTA,TECTA | c.3021C>A (p.Pro1007=) c.328C>A c.3978C>A (p.Pro1326=) | |
| 11 | g.121137500C= | CA2004733702 | TBCEL-TECTA,TECTA | c.3021C= (p.Pro1007=) c.328C= c.3978C= (p.Pro1326=) | |
| 11 | g.121137500C>G | CA477382437 | TBCEL-TECTA,TECTA | c.3021C>G (p.Pro1007=) c.328C>G c.3978C>G (p.Pro1326=) | |
| 11 | g.121137500C>T | CA6327140 | TBCEL-TECTA,TECTA | c.3021C>T (p.Pro1007=) c.328C>T c.3978C>T (p.Pro1326=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.121137501A= | CA2004733704 | TBCEL-TECTA,TECTA | c.3022A= (p.Ile1008=) c.329A= c.3979A= (p.Ile1327=) | |
| 11 | g.121137501A>C | CA383018509 | TBCEL-TECTA,TECTA | c.3022A>C (p.Ile1008Leu) c.329A>C c.3979A>C (p.Ile1327Leu) | |
| 11 | g.121137501A>G | CA383018511 | TBCEL-TECTA,TECTA | c.3022A>G (p.Ile1008Val) c.329A>G c.3979A>G (p.Ile1327Val) | dbSNP |
| 11 | g.121137501A>T | CA383018513 | TBCEL-TECTA,TECTA | c.3022A>T (p.Ile1008Phe) c.329A>T c.3979A>T (p.Ile1327Phe) | |
| 11 | g.121137502T>A | CA383018515 | TBCEL-TECTA,TECTA | c.3023T>A (p.Ile1008Asn) c.330T>A c.3980T>A (p.Ile1327Asn) | |
| 11 | g.121137502T>C | CA383018517 | TBCEL-TECTA,TECTA | c.3023T>C (p.Ile1008Thr) c.330T>C c.3980T>C (p.Ile1327Thr) | |
| 11 | g.121137502T>G | CA383018519 | TBCEL-TECTA,TECTA | c.3023T>G (p.Ile1008Ser) c.330T>G c.3980T>G (p.Ile1327Ser) | |
| 11 | g.121137503C>A | CA6327141 | TBCEL-TECTA,TECTA | c.3024C>A (p.Ile1008=) c.331C>A c.3981C>A (p.Ile1327=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121137503C= | CA2004733705 | TBCEL-TECTA,TECTA | c.3024C= (p.Ile1008=) c.331C= c.3981C= (p.Ile1327=) | |
| 11 | g.121137503C>G | CA383018522 | TBCEL-TECTA,TECTA | c.3024C>G (p.Ile1008Met) c.331C>G c.3981C>G (p.Ile1327Met) | |
| 11 | g.121137503C>T | CA477382445 | TBCEL-TECTA,TECTA | c.3024C>T (p.Ile1008=) c.331C>T c.3981C>T (p.Ile1327=) | |
| 11 | g.121137504T>A | CA383018525 | TBCEL-TECTA,TECTA | c.3025T>A (p.Cys1009Ser) c.332T>A c.3982T>A (p.Cys1328Ser) | |
| 11 | g.121137504T>C | CA383018527 | TBCEL-TECTA,TECTA | c.3025T>C (p.Cys1009Arg) c.332T>C c.3982T>C (p.Cys1328Arg) | |
| 11 | g.121137504T>G | CA383018528 | TBCEL-TECTA,TECTA | c.3025T>G (p.Cys1009Gly) c.332T>G c.3982T>G (p.Cys1328Gly) | |
| 11 | g.121137505G>A | CA383018535 | TBCEL-TECTA,TECTA | c.3026G>A (p.Cys1009Tyr) c.333G>A c.3983G>A (p.Cys1328Tyr) | |
| 11 | g.121137505G>C | CA383018533 | TBCEL-TECTA,TECTA | c.3026G>C (p.Cys1009Ser) c.333G>C c.3983G>C (p.Cys1328Ser) | |
| 11 | g.121137505G>T | CA383018531 | TBCEL-TECTA,TECTA | c.3026G>T (p.Cys1009Phe) c.333G>T c.3983G>T (p.Cys1328Phe) | gnomAD v4 |
| 11 | g.121137506C>A | CA383018540 | TBCEL-TECTA,TECTA | c.3027C>A (p.Cys1009Ter) c.334C>A c.3984C>A (p.Cys1328Ter) | |
| 11 | g.121137506C= | CA2004733707 | TBCEL-TECTA,TECTA | c.3027C= (p.Cys1009=) c.334C= c.3984C= (p.Cys1328=) | |
| 11 | g.121137506C>G | CA383018538 | TBCEL-TECTA,TECTA | c.3027C>G (p.Cys1009Trp) c.334C>G c.3984C>G (p.Cys1328Trp) | |
| 11 | g.121137506C>T | CA6327142 | TBCEL-TECTA,TECTA | c.3027C>T (p.Cys1009=) c.334C>T c.3984C>T (p.Cys1328=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121137507G>A | CA6327143 | TBCEL-TECTA,TECTA | c.3028G>A (p.Val1010Met) c.335G>A c.3985G>A (p.Val1329Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.121137507G>C | CA383018546 | TBCEL-TECTA,TECTA | c.3028G>C (p.Val1010Leu) c.335G>C c.3985G>C (p.Val1329Leu) | |
| 11 | g.121137507G= | CA2004733709 | TBCEL-TECTA,TECTA | c.3028G= (p.Val1010=) c.335G= c.3985G= (p.Val1329=) | |
| 11 | g.121137507G>T | CA383018545 | TBCEL-TECTA,TECTA | c.3028G>T (p.Val1010Leu) c.335G>T c.3985G>T (p.Val1329Leu) | |
| 11 | g.121137508T>A | CA383018549 | TBCEL-TECTA,TECTA | c.3029T>A (p.Val1010Glu) c.336T>A c.3986T>A (p.Val1329Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121137508T>C | CA383018551 | TBCEL-TECTA,TECTA | c.3029T>C (p.Val1010Ala) c.336T>C c.3986T>C (p.Val1329Ala) | |
| 11 | g.121137508T>G | CA383018553 | TBCEL-TECTA,TECTA | c.3029T>G (p.Val1010Gly) c.336T>G c.3986T>G (p.Val1329Gly) | |
| 11 | g.121137508T= | CA2004733711 | TBCEL-TECTA,TECTA | c.3029T= (p.Val1010=) c.336T= c.3986T= (p.Val1329=) | |
| 11 | g.121137509G>A | CA477382455 | TBCEL-TECTA,TECTA | c.3030G>A (p.Val1010=) c.337G>A c.3987G>A (p.Val1329=) | |
| 11 | g.121137509G>C | CA477382456 | TBCEL-TECTA,TECTA | c.3030G>C (p.Val1010=) c.337G>C c.3987G>C (p.Val1329=) | |
| 11 | g.121137509G>T | CA477382459 | TBCEL-TECTA,TECTA | c.3030G>T (p.Val1010=) c.337G>T c.3987G>T (p.Val1329=) | |
| 11 | g.121137510G>A | CA383018555 | TBCEL-TECTA,TECTA | c.3031G>A (p.Asp1011Asn) c.338G>A c.3988G>A (p.Asp1330Asn) | gnomAD v4 |
| 11 | g.121137510G>C | CA383018557 | TBCEL-TECTA,TECTA | c.3031G>C (p.Asp1011His) c.338G>C c.3988G>C (p.Asp1330His) | gnomAD v4 |
| 11 | g.121137510G>T | CA383018559 | TBCEL-TECTA,TECTA | c.3031G>T (p.Asp1011Tyr) c.338G>T c.3988G>T (p.Asp1330Tyr) | COSMIC |
| 11 | g.121137511A>C | CA383018561 | TBCEL-TECTA,TECTA | c.3032A>C (p.Asp1011Ala) c.339A>C c.3989A>C (p.Asp1330Ala) | |
| 11 | g.121137511A>G | CA383018563 | TBCEL-TECTA,TECTA | c.3032A>G (p.Asp1011Gly) c.339A>G c.3989A>G (p.Asp1330Gly) | |
| 11 | g.121137511A>T | CA383018565 | TBCEL-TECTA,TECTA | c.3032A>T (p.Asp1011Val) c.339A>T c.3989A>T (p.Asp1330Val) | |
| 11 | g.121137512T>A | CA383018566 | TBCEL-TECTA,TECTA | c.3033T>A (p.Asp1011Glu) c.340T>A c.3990T>A (p.Asp1330Glu) | |
| 11 | g.121137512T>C | CA477382468 | TBCEL-TECTA,TECTA | c.3033T>C (p.Asp1011=) c.340T>C c.3990T>C (p.Asp1330=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121137512T>G | CA383018568 | TBCEL-TECTA,TECTA | c.3033T>G (p.Asp1011Glu) c.340T>G c.3990T>G (p.Asp1330Glu) | |
| 11 | g.121137512T= | CA2004733713 | TBCEL-TECTA,TECTA | c.3033T= (p.Asp1011=) c.340T= c.3990T= (p.Asp1330=) | |
| 11 | g.121137513A>C | CA383018574 | TBCEL-TECTA,TECTA | c.3034A>C (p.Ser1012Arg) c.341A>C c.3991A>C (p.Ser1331Arg) | |
| 11 | g.121137513A>G | CA383018570 | TBCEL-TECTA,TECTA | c.3034A>G (p.Ser1012Gly) c.341A>G c.3991A>G (p.Ser1331Gly) | |
| 11 | g.121137513A>T | CA383018572 | TBCEL-TECTA,TECTA | c.3034A>T (p.Ser1012Cys) c.341A>T c.3991A>T (p.Ser1331Cys) | |
| 11 | g.121137514G>A | CA383018576 | TBCEL-TECTA,TECTA | c.3035G>A (p.Ser1012Asn) c.342G>A c.3992G>A (p.Ser1331Asn) | |
| 11 | g.121137514G>C | CA383018578 | TBCEL-TECTA,TECTA | c.3035G>C (p.Ser1012Thr) c.342G>C c.3992G>C (p.Ser1331Thr) | |
| 11 | g.121137514G>T | CA383018580 | TBCEL-TECTA,TECTA | c.3035G>T (p.Ser1012Ile) c.342G>T c.3992G>T (p.Ser1331Ile) | dbSNP |
| 11 | g.121137515_121137522del | CA2575008416 | TBCEL-TECTA,TECTA | c.3036_3043del (p.Ser1012ArgfsTer6) c.343_350del c.3993_4000del (p.Ser1331ArgfsTer6) | |
| 11 | g.121137515C>A | CA383018582 | TBCEL-TECTA,TECTA | c.3036C>A (p.Ser1012Arg) c.343C>A c.3993C>A (p.Ser1331Arg) | |
| 11 | g.121137515C>G | CA383018584 | TBCEL-TECTA,TECTA | c.3036C>G (p.Ser1012Arg) c.343C>G c.3993C>G (p.Ser1331Arg) | |
| 11 | g.121137515C>T | CA477382476 | TBCEL-TECTA,TECTA | c.3036C>T (p.Ser1012=) c.343C>T c.3993C>T (p.Ser1331=) | COSMIC |
| 11 | g.121137516T>A | CA383018587 | TBCEL-TECTA,TECTA | c.3037T>A (p.Cys1013Ser) c.344T>A c.3994T>A (p.Cys1332Ser) | dbSNP gnomAD v4 |
| 11 | g.121137516T>C | CA383018589 | TBCEL-TECTA,TECTA | c.3037T>C (p.Cys1013Arg) c.344T>C c.3994T>C (p.Cys1332Arg) | |
| 11 | g.121137516T>G | CA383018590 | TBCEL-TECTA,TECTA | c.3037T>G (p.Cys1013Gly) c.344T>G c.3994T>G (p.Cys1332Gly) | |
| 11 | g.121137516T= | CA2004733715 | TBCEL-TECTA,TECTA | c.3037T= (p.Cys1013=) c.344T= c.3994T= (p.Cys1332=) | |
| 11 | g.121137517G>A | CA383018593 | TBCEL-TECTA,TECTA | c.3038G>A (p.Cys1013Tyr) c.345G>A c.3995G>A (p.Cys1332Tyr) | |
| 11 | g.121137517G>C | CA6327144 | TBCEL-TECTA,TECTA | c.3038G>C (p.Cys1013Ser) c.345G>C c.3995G>C (p.Cys1332Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121137517G= | CA2004733716 | TBCEL-TECTA,TECTA | c.3038G= (p.Cys1013=) c.345G= c.3995G= (p.Cys1332=) | |
| 11 | g.121137517G>T | CA383018595 | TBCEL-TECTA,TECTA | c.3038G>T (p.Cys1013Phe) c.345G>T c.3995G>T (p.Cys1332Phe) | |
| 11 | g.121137518C>A | CA383018599 | TBCEL-TECTA,TECTA | c.3039C>A (p.Cys1013Ter) c.346C>A c.3996C>A (p.Cys1332Ter) | |
| 11 | g.121137518C>G | CA383018597 | TBCEL-TECTA,TECTA | c.3039C>G (p.Cys1013Trp) c.346C>G c.3996C>G (p.Cys1332Trp) | |
| 11 | g.121137518C>T | CA477382483 | TBCEL-TECTA,TECTA | c.3039C>T (p.Cys1013=) c.346C>T c.3996C>T (p.Cys1332=) | COSMIC |
| 11 | g.121137519T>A | CA383018601 | TBCEL-TECTA,TECTA | c.3040T>A (p.Ser1014Thr) c.347T>A c.3997T>A (p.Ser1333Thr) | |
| 11 | g.121137519T>C | CA383018603 | TBCEL-TECTA,TECTA | c.3040T>C (p.Ser1014Pro) c.347T>C c.3997T>C (p.Ser1333Pro) | gnomAD v4 |
| 11 | g.121137519T>G | CA383018605 | TBCEL-TECTA,TECTA | c.3040T>G (p.Ser1014Ala) c.347T>G c.3997T>G (p.Ser1333Ala) | |
| 11 | g.121137520C>A | CA383018608 | TBCEL-TECTA,TECTA | c.3041C>A (p.Ser1014Tyr) c.348C>A c.3998C>A (p.Ser1333Tyr) | |
| 11 | g.121137520C>G | CA383018610 | TBCEL-TECTA,TECTA | c.3041C>G (p.Ser1014Cys) c.348C>G c.3998C>G (p.Ser1333Cys) | gnomAD v4 |
| 11 | g.121137520C>T | CA383018612 | TBCEL-TECTA,TECTA | c.3041C>T (p.Ser1014Phe) c.348C>T c.3998C>T (p.Ser1333Phe) | |
| 11 | g.121137521T>A | CA477382486 | TBCEL-TECTA,TECTA | c.3042T>A (p.Ser1014=) c.349T>A c.3999T>A (p.Ser1333=) | |
| 11 | g.121137521T>C | CA477382487 | TBCEL-TECTA,TECTA | c.3042T>C (p.Ser1014=) c.349T>C c.3999T>C (p.Ser1333=) | dbSNP gnomAD v4 |
| 11 | g.121137521T>G | CA477382490 | TBCEL-TECTA,TECTA | c.3042T>G (p.Ser1014=) c.349T>G c.3999T>G (p.Ser1333=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121137521T= | CA2004733718 | TBCEL-TECTA,TECTA | c.3042T= (p.Ser1014=) c.349T= c.3999T= (p.Ser1333=) | |
| 11 | g.121137522G>A | CA6327146 | TBCEL-TECTA,TECTA | c.3043G>A (p.Glu1015Lys) c.350G>A c.4000G>A (p.Glu1334Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.121137522G>C | CA6327145 | TBCEL-TECTA,TECTA | c.3043G>C (p.Glu1015Gln) c.350G>C c.4000G>C (p.Glu1334Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121137522G= | CA2004733720 | TBCEL-TECTA,TECTA | c.3043G= (p.Glu1015=) c.350G= c.4000G= (p.Glu1334=) | |
| 11 | g.121137522G>T | CA383018616 | TBCEL-TECTA,TECTA | c.3043G>T (p.Glu1015Ter) c.350G>T c.4000G>T (p.Glu1334Ter) | |
| 11 | g.121137523A>C | CA383018619 | TBCEL-TECTA,TECTA | c.3044A>C (p.Glu1015Ala) c.351A>C c.4001A>C (p.Glu1334Ala) | |
| 11 | g.121137523A>G | CA383018621 | TBCEL-TECTA,TECTA | c.3044A>G (p.Glu1015Gly) c.351A>G c.4001A>G (p.Glu1334Gly) | |
| 11 | g.121137523A>T | CA383018623 | TBCEL-TECTA,TECTA | c.3044A>T (p.Glu1015Val) c.351A>T c.4001A>T (p.Glu1334Val) | |
| 11 | g.121137524G>A | CA477382494 | TBCEL-TECTA,TECTA | c.3045G>A (p.Glu1015=) c.352G>A c.4002G>A (p.Glu1334=) | |
| 11 | g.121137524G>C | CA383018625 | TBCEL-TECTA,TECTA | c.3045G>C (p.Glu1015Asp) c.352G>C c.4002G>C (p.Glu1334Asp) | |
| 11 | g.121137524G>T | CA383018627 | TBCEL-TECTA,TECTA | c.3045G>T (p.Glu1015Asp) c.352G>T c.4002G>T (p.Glu1334Asp) | |
| 11 | g.121137525G>A | CA383018630 | TBCEL-TECTA,TECTA | c.3046G>A (p.Gly1016Arg) c.353G>A c.4003G>A (p.Gly1335Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.121137525G>C | CA383018632 | TBCEL-TECTA,TECTA | c.3046G>C (p.Gly1016Arg) c.353G>C c.4003G>C (p.Gly1335Arg) | |
| 11 | g.121137525G= | CA2004733721 | TBCEL-TECTA,TECTA | c.3046G= (p.Gly1016=) c.353G= c.4003G= (p.Gly1335=) | |
| 11 | g.121137525G>T | CA383018631 | TBCEL-TECTA,TECTA | c.3046G>T (p.Gly1016Ter) c.353G>T c.4003G>T (p.Gly1335Ter) | |
| 11 | g.121137526G>A | CA383018635 | TBCEL-TECTA,TECTA | c.3047G>A (p.Gly1016Glu) c.354G>A c.4004G>A (p.Gly1335Glu) | |
| 11 | g.121137526G>C | CA383018636 | TBCEL-TECTA,TECTA | c.3047G>C (p.Gly1016Ala) c.354G>C c.4004G>C (p.Gly1335Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121137526G= | CA2004733723 | TBCEL-TECTA,TECTA | c.3047G= (p.Gly1016=) c.354G= c.4004G= (p.Gly1335=) | |
| 11 | g.121137526G>T | CA383018638 | TBCEL-TECTA,TECTA | c.3047G>T (p.Gly1016Val) c.354G>T c.4004G>T (p.Gly1335Val) | |
| 11 | g.121137527A>C | CA477382502 | TBCEL-TECTA,TECTA | c.3048A>C (p.Gly1016=) c.355A>C c.4005A>C (p.Gly1335=) | |
| 11 | g.121137527A>G | CA477382505 | TBCEL-TECTA,TECTA | c.3048A>G (p.Gly1016=) c.355A>G c.4005A>G (p.Gly1335=) | |
| 11 | g.121137527A>T | CA477382504 | TBCEL-TECTA,TECTA | c.3048A>T (p.Gly1016=) c.355A>T c.4005A>T (p.Gly1335=) | |
| 11 | g.121137528T>A | CA383018640 | TBCEL-TECTA,TECTA | c.3049T>A (p.Cys1017Ser) c.356T>A c.4006T>A (p.Cys1336Ser) | |
| 11 | g.121137528T>C | CA383018642 | TBCEL-TECTA,TECTA | c.3049T>C (p.Cys1017Arg) c.356T>C c.4006T>C (p.Cys1336Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.121137528T>G | CA383018643 | TBCEL-TECTA,TECTA | c.3049T>G (p.Cys1017Gly) c.356T>G c.4006T>G (p.Cys1336Gly) | |
| 11 | g.121137528T= | CA2004733724 | TBCEL-TECTA,TECTA | c.3049T= (p.Cys1017=) c.356T= c.4006T= (p.Cys1336=) | |
| 11 | g.121137529G>A | CA383018644 | TBCEL-TECTA,TECTA | c.3050G>A (p.Cys1017Tyr) c.357G>A c.4007G>A (p.Cys1336Tyr) | |
| 11 | g.121137529G>C | CA383018646 | TBCEL-TECTA,TECTA | c.3050G>C (p.Cys1017Ser) c.357G>C c.4007G>C (p.Cys1336Ser) | |
| 11 | g.121137529G>T | CA383018648 | TBCEL-TECTA,TECTA | c.3050G>T (p.Cys1017Phe) c.357G>T c.4007G>T (p.Cys1336Phe) | |
| 11 | g.121137530T>A | CA383018649 | TBCEL-TECTA,TECTA | c.3051T>A (p.Cys1017Ter) c.358T>A c.4008T>A (p.Cys1336Ter) | |
| 11 | g.121137530T>C | CA477382512 | TBCEL-TECTA,TECTA | c.3051T>C (p.Cys1017=) c.358T>C c.4008T>C (p.Cys1336=) | |
| 11 | g.121137530T>G | CA383018650 | TBCEL-TECTA,TECTA | c.3051T>G (p.Cys1017Trp) c.358T>G c.4008T>G (p.Cys1336Trp) | |
| 11 | g.121137531C>A | CA383018656 | TBCEL-TECTA,TECTA | c.3052C>A (p.Gln1018Lys) c.359C>A c.4009C>A (p.Gln1337Lys) | |
| 11 | g.121137531C>G | CA383018658 | TBCEL-TECTA,TECTA | c.3052C>G (p.Gln1018Glu) c.359C>G c.4009C>G (p.Gln1337Glu) | |
| 11 | g.121137531C>T | CA383018654 | TBCEL-TECTA,TECTA | c.3052C>T (p.Gln1018Ter) c.359C>T c.4009C>T (p.Gln1337Ter) | |
| 11 | g.121137532A>C | CA383018665 | TBCEL-TECTA,TECTA | c.3053A>C (p.Gln1018Pro) c.360A>C c.4010A>C (p.Gln1337Pro) | |
| 11 | g.121137532A>G | CA383018661 | TBCEL-TECTA,TECTA | c.3053A>G (p.Gln1018Arg) c.360A>G c.4010A>G (p.Gln1337Arg) | |
| 11 | g.121137532A>T | CA383018663 | TBCEL-TECTA,TECTA | c.3053A>T (p.Gln1018Leu) c.360A>T c.4010A>T (p.Gln1337Leu) | |
| 11 | g.121137533G>A | CA477382516 | TBCEL-TECTA,TECTA | c.3054G>A (p.Gln1018=) c.361G>A c.4011G>A (p.Gln1337=) | gnomAD v4 |
| 11 | g.121137533G>C | CA383018668 | TBCEL-TECTA,TECTA | c.3054G>C (p.Gln1018His) c.361G>C c.4011G>C (p.Gln1337His) | |
| 11 | g.121137533G>T | CA383018670 | TBCEL-TECTA,TECTA | c.3054G>T (p.Gln1018His) c.361G>T c.4011G>T (p.Gln1337His) | |
| 11 | g.121137534T>A | CA383018673 | TBCEL-TECTA,TECTA | c.3055T>A (p.Cys1019Ser) c.362T>A c.4012T>A (p.Cys1338Ser) | |
| 11 | g.121137534T>C | CA383018675 | TBCEL-TECTA,TECTA | c.3055T>C (p.Cys1019Arg) c.362T>C c.4012T>C (p.Cys1338Arg) | |
| 11 | g.121137534T>G | CA383018677 | TBCEL-TECTA,TECTA | c.3055T>G (p.Cys1019Gly) c.362T>G c.4012T>G (p.Cys1338Gly) | |
| 11 | g.121137535G>A | CA383018681 | TBCEL-TECTA,TECTA | c.3056G>A (p.Cys1019Tyr) c.363G>A c.4013G>A (p.Cys1338Tyr) | |
| 11 | g.121137535G>C | CA383018683 | TBCEL-TECTA,TECTA | c.3056G>C (p.Cys1019Ser) c.363G>C c.4013G>C (p.Cys1338Ser) | |
| 11 | g.121137535G>T | CA383018685 | TBCEL-TECTA,TECTA | c.3056G>T (p.Cys1019Phe) c.363G>T c.4013G>T (p.Cys1338Phe) | |
| 11 | g.121137536T>A | CA383018689 | TBCEL-TECTA,TECTA | c.3057T>A (p.Cys1019Ter) c.364T>A c.4014T>A (p.Cys1338Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.121137536T>C | CA477382525 | TBCEL-TECTA,TECTA | c.3057T>C (p.Cys1019=) c.364T>C c.4014T>C (p.Cys1338=) | |
| 11 | g.121137536T>G | CA383018690 | TBCEL-TECTA,TECTA | c.3057T>G (p.Cys1019Trp) c.364T>G c.4014T>G (p.Cys1338Trp) | |
| 11 | g.121137536T= | CA2004733726 | TBCEL-TECTA,TECTA | c.3057T= (p.Cys1019=) c.364T= c.4014T= (p.Cys1338=) | |
| 11 | g.121137537G>A | CA383018696 | TBCEL-TECTA,TECTA | c.3058G>A (p.Asp1020Asn) c.365G>A c.4015G>A (p.Asp1339Asn) | |
| 11 | g.121137537G>C | CA383018698 | TBCEL-TECTA,TECTA | c.3058G>C (p.Asp1020His) c.365G>C c.4015G>C (p.Asp1339His) | |
| 11 | g.121137537G>T | CA383018694 | TBCEL-TECTA,TECTA | c.3058G>T (p.Asp1020Tyr) c.365G>T c.4015G>T (p.Asp1339Tyr) | |
| 11 | g.121137538A= | CA2004733727 | TBCEL-TECTA,TECTA | c.3059A= (p.Asp1020=) c.366A= c.4016A= (p.Asp1339=) | |
| 11 | g.121137538A>C | CA383018701 | TBCEL-TECTA,TECTA | c.3059A>C (p.Asp1020Ala) c.366A>C c.4016A>C (p.Asp1339Ala) | |
| 11 | g.121137538A>G | CA383018704 | TBCEL-TECTA,TECTA | c.3059A>G (p.Asp1020Gly) c.366A>G c.4016A>G (p.Asp1339Gly) | |
| 11 | g.121137538A>T | CA6327147 | TBCEL-TECTA,TECTA | c.3059A>T (p.Asp1020Val) c.366A>T c.4016A>T (p.Asp1339Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121137539T>A | CA383018707 | TBCEL-TECTA,TECTA | c.3060T>A (p.Asp1020Glu) c.367T>A c.4017T>A (p.Asp1339Glu) | |
| 11 | g.121137539T>C | CA477382536 | TBCEL-TECTA,TECTA | c.3060T>C (p.Asp1020=) c.367T>C c.4017T>C (p.Asp1339=) | |
| 11 | g.121137539T>G | CA383018709 | TBCEL-TECTA,TECTA | c.3060T>G (p.Asp1020Glu) c.367T>G c.4017T>G (p.Asp1339Glu) | |
| 11 | g.121137539_121137540insAA | CA2725114459 | TBCEL-TECTA,TECTA | c.3060_3061insAA (p.Glu1021LysfsTer?) c.367_368insAA c.4017_4018insAA (p.Glu1340LysfsTer?) | dbSNP |
| 11 | g.121137540G>A | CA383018715 | TBCEL-TECTA,TECTA | c.3061G>A (p.Glu1021Lys) c.368G>A c.4018G>A (p.Glu1340Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.121137540G>C | CA383018712 | TBCEL-TECTA,TECTA | c.3061G>C (p.Glu1021Gln) c.368G>C c.4018G>C (p.Glu1340Gln) | gnomAD v4 |
| 11 | g.121137540G= | CA2004733729 | TBCEL-TECTA,TECTA | c.3061G= (p.Glu1021=) c.368G= c.4018G= (p.Glu1340=) | |
| 11 | g.121137540G>T | CA383018713 | TBCEL-TECTA,TECTA | c.3061G>T (p.Glu1021Ter) c.368G>T c.4018G>T (p.Glu1340Ter) | |
| 11 | g.121137541A= | CA2004733731 | TBCEL-TECTA,TECTA | c.3062A= (p.Glu1021=) c.369A= c.4019A= (p.Glu1340=) | |
| 11 | g.121137541A>C | CA383018718 | TBCEL-TECTA,TECTA | c.3062A>C (p.Glu1021Ala) c.369A>C c.4019A>C (p.Glu1340Ala) | |
| 11 | g.121137541A>G | CA229825402 | TBCEL-TECTA,TECTA | c.3062A>G (p.Glu1021Gly) c.369A>G c.4019A>G (p.Glu1340Gly) | dbSNP gnomAD v4 |
| 11 | g.121137541A>T | CA383018720 | TBCEL-TECTA,TECTA | c.3062A>T (p.Glu1021Val) c.369A>T c.4019A>T (p.Glu1340Val) | |
| 11 | g.121137542G>A | CA477382539 | TBCEL-TECTA,TECTA | c.3063G>A (p.Glu1021=) c.370G>A c.4020G>A (p.Glu1340=) | gnomAD v4 |
| 11 | g.121137542G>C | CA383018724 | TBCEL-TECTA,TECTA | c.3063G>C (p.Glu1021Asp) c.370G>C c.4020G>C (p.Glu1340Asp) | |
| 11 | g.121137542G>T | CA383018726 | TBCEL-TECTA,TECTA | c.3063G>T (p.Glu1021Asp) c.370G>T c.4020G>T (p.Glu1340Asp) | |
| 11 | g.121137543G>A | CA6327148 | TBCEL-TECTA,TECTA | c.3064G>A (p.Gly1022Ser) c.371G>A c.4021G>A (p.Gly1341Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121137543G>C | CA383018730 | TBCEL-TECTA,TECTA | c.3064G>C (p.Gly1022Arg) c.371G>C c.4021G>C (p.Gly1341Arg) | |
| 11 | g.121137543G= | CA2004733733 | TBCEL-TECTA,TECTA | c.3064G= (p.Gly1022=) c.371G= c.4021G= (p.Gly1341=) | |
| 11 | g.121137543G>T | CA383018728 | TBCEL-TECTA,TECTA | c.3064G>T (p.Gly1022Cys) c.371G>T c.4021G>T (p.Gly1341Cys) | COSMIC |
| 11 | g.121137544G>A | CA6327149 | TBCEL-TECTA,TECTA | c.3065G>A (p.Gly1022Asp) c.372G>A c.4022G>A (p.Gly1341Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121137544G>C | CA383018735 | TBCEL-TECTA,TECTA | c.3065G>C (p.Gly1022Ala) c.372G>C c.4022G>C (p.Gly1341Ala) | gnomAD v4 |
| 11 | g.121137544G= | CA2004733734 | TBCEL-TECTA,TECTA | c.3065G= (p.Gly1022=) c.372G= c.4022G= (p.Gly1341=) | |
| 11 | g.121137544G>T | CA383018737 | TBCEL-TECTA,TECTA | c.3065G>T (p.Gly1022Val) c.372G>T c.4022G>T (p.Gly1341Val) | dbSNP gnomAD v4 |
| 11 | g.121137545C>A | CA477382545 | TBCEL-TECTA,TECTA | c.3066C>A (p.Gly1022=) c.373C>A c.4023C>A (p.Gly1341=) | |
| 11 | g.121137545C= | CA2004733736 | TBCEL-TECTA,TECTA | c.3066C= (p.Gly1022=) c.373C= c.4023C= (p.Gly1341=) | |
| 11 | g.121137545C>G | CA6327150 | TBCEL-TECTA,TECTA | c.3066C>G (p.Gly1022=) c.373C>G c.4023C>G (p.Gly1341=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121137545C>T | CA477382546 | TBCEL-TECTA,TECTA | c.3066C>T (p.Gly1022=) c.373C>T c.4023C>T (p.Gly1341=) | gnomAD v4 |
| 11 | g.121137546T>A | CA383018742 | TBCEL-TECTA,TECTA | c.3067T>A (p.Tyr1023Asn) c.374T>A c.4024T>A (p.Tyr1342Asn) | |
| 11 | g.121137546T>C | CA383018744 | TBCEL-TECTA,TECTA | c.3067T>C (p.Tyr1023His) c.374T>C c.4024T>C (p.Tyr1342His) | |
| 11 | g.121137546T>G | CA383018746 | TBCEL-TECTA,TECTA | c.3067T>G (p.Tyr1023Asp) c.374T>G c.4024T>G (p.Tyr1342Asp) | |
| 11 | g.121137547A= | CA2004733737 | TBCEL-TECTA,TECTA | c.3068A= (p.Tyr1023=) c.375A= c.4025A= (p.Tyr1342=) | |
| 11 | g.121137547A>C | CA383018749 | TBCEL-TECTA,TECTA | c.3068A>C (p.Tyr1023Ser) c.375A>C c.4025A>C (p.Tyr1342Ser) | |
| 11 | g.121137547A>G | CA383018751 | TBCEL-TECTA,TECTA | c.3068A>G (p.Tyr1023Cys) c.375A>G c.4025A>G (p.Tyr1342Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121137547A>T | CA383018753 | TBCEL-TECTA,TECTA | c.3068A>T (p.Tyr1023Phe) c.375A>T c.4025A>T (p.Tyr1342Phe) | |
| 11 | g.121137548T>A | CA383018755 | TBCEL-TECTA,TECTA | c.3069T>A (p.Tyr1023Ter) c.376T>A c.4026T>A (p.Tyr1342Ter) | |
| 11 | g.121137548T>C | CA477382548 | TBCEL-TECTA,TECTA | c.3069T>C (p.Tyr1023=) c.376T>C c.4026T>C (p.Tyr1342=) | |
| 11 | g.121137548T>G | CA383018757 | TBCEL-TECTA,TECTA | c.3069T>G (p.Tyr1023Ter) c.376T>G c.4026T>G (p.Tyr1342Ter) | |
| 11 | g.121137549G>A | CA383018762 | TBCEL-TECTA,TECTA | c.3070G>A (p.Ala1024Thr) c.377G>A c.4027G>A (p.Ala1343Thr) | |
| 11 | g.121137549G>C | CA383018764 | TBCEL-TECTA,TECTA | c.3070G>C (p.Ala1024Pro) c.377G>C c.4027G>C (p.Ala1343Pro) | |
| 11 | g.121137549G>T | CA383018759 | TBCEL-TECTA,TECTA | c.3070G>T (p.Ala1024Ser) c.377G>T c.4027G>T (p.Ala1343Ser) | |
| 11 | g.121137550C>A | CA383018767 | TBCEL-TECTA,TECTA | c.3071C>A (p.Ala1024Asp) c.378C>A c.4028C>A (p.Ala1343Asp) | |
| 11 | g.121137550C= | CA2004733739 | TBCEL-TECTA,TECTA | c.3071C= (p.Ala1024=) c.378C= c.4028C= (p.Ala1343=) | |
| 11 | g.121137550C>G | CA383018770 | TBCEL-TECTA,TECTA | c.3071C>G (p.Ala1024Gly) c.378C>G c.4028C>G (p.Ala1343Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121137550C>T | CA383018772 | TBCEL-TECTA,TECTA | c.3071C>T (p.Ala1024Val) c.378C>T c.4028C>T (p.Ala1343Val) | dbSNP |
| 11 | g.121137551T>A | CA477382552 | TBCEL-TECTA,TECTA | c.3072T>A (p.Ala1024=) c.379T>A c.4029T>A (p.Ala1343=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.121137551T>C | CA477382554 | TBCEL-TECTA,TECTA | c.3072T>C (p.Ala1024=) c.379T>C c.4029T>C (p.Ala1343=) | |
| 11 | g.121137551T>G | CA477382557 | TBCEL-TECTA,TECTA | c.3072T>G (p.Ala1024=) c.379T>G c.4029T>G (p.Ala1343=) | |
| 11 | g.121137551T= | CA2004733741 | TBCEL-TECTA,TECTA | c.3072T= (p.Ala1024=) c.379T= c.4029T= (p.Ala1343=) | |
| 11 | g.121137552C>A | CA383018775 | TBCEL-TECTA,TECTA | c.3073C>A (p.Leu1025Ile) c.380C>A c.4030C>A (p.Leu1344Ile) | |
| 11 | g.121137552C= | CA2004733743 | TBCEL-TECTA,TECTA | c.3073C= (p.Leu1025=) c.380C= c.4030C= (p.Leu1344=) | |
| 11 | g.121137552C>G | CA383018776 | TBCEL-TECTA,TECTA | c.3073C>G (p.Leu1025Val) c.380C>G c.4030C>G (p.Leu1344Val) | gnomAD v4 |
| 11 | g.121137552C>T | CA6327151 | TBCEL-TECTA,TECTA | c.3073C>T (p.Leu1025=) c.380C>T c.4030C>T (p.Leu1344=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |