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 |
|---|---|---|---|---|---|
| 7 | g.41966255G>A | CA367320281 | GLI3 | c.2818C>T (p.Pro940Ser) c.2644C>T (p.Pro882Ser) n.2795C>T c.2641C>T (p.Pro881Ser) c.2815C>T (p.Pro939Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41966255G>C | CA367320282 | GLI3 | c.2818C>G (p.Pro940Ala) c.2644C>G (p.Pro882Ala) n.2795C>G c.2641C>G (p.Pro881Ala) c.2815C>G (p.Pro939Ala) | |
| 7 | g.41966255G= | CA1702661204 | GLI3 | c.2818C= (p.Pro940=) c.2644C= (p.Pro882=) n.2795C= c.2641C= (p.Pro881=) c.2815C= (p.Pro939=) | |
| 7 | g.41966255G>T | CA367320283 | GLI3 | c.2818C>A (p.Pro940Thr) c.2644C>A (p.Pro882Thr) n.2795C>A c.2641C>A (p.Pro881Thr) c.2815C>A (p.Pro939Thr) | gnomAD v4 COSMIC |
| 7 | g.41966256C>A | CA454662302 | GLI3 | c.2817G>T (p.Gly939=) c.2643G>T (p.Gly881=) n.2794G>T c.2640G>T (p.Gly880=) c.2814G>T (p.Gly938=) | |
| 7 | g.41966256C= | CA1702661205 | GLI3 | c.2817G= (p.Gly939=) c.2643G= (p.Gly881=) n.2794G= c.2640G= (p.Gly880=) c.2814G= (p.Gly938=) | |
| 7 | g.41966256C>G | CA454662303 | GLI3 | c.2817G>C (p.Gly939=) c.2643G>C (p.Gly881=) n.2794G>C c.2640G>C (p.Gly880=) c.2814G>C (p.Gly938=) | |
| 7 | g.41966256C>T | CA454662304 | GLI3 | c.2817G>A (p.Gly939=) c.2643G>A (p.Gly881=) n.2794G>A c.2640G>A (p.Gly880=) c.2814G>A (p.Gly938=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41966257C>A | CA367320284 | GLI3 | c.2816G>T (p.Gly939Val) c.2642G>T (p.Gly881Val) n.2793G>T c.2639G>T (p.Gly880Val) c.2813G>T (p.Gly938Val) | |
| 7 | g.41966257C>G | CA367320286 | GLI3 | c.2816G>C (p.Gly939Ala) c.2642G>C (p.Gly881Ala) n.2793G>C c.2639G>C (p.Gly880Ala) c.2813G>C (p.Gly938Ala) | |
| 7 | g.41966257C>T | CA367320285 | GLI3 | c.2816G>A (p.Gly939Glu) c.2642G>A (p.Gly881Glu) n.2793G>A c.2639G>A (p.Gly880Glu) c.2813G>A (p.Gly938Glu) | gnomAD v4 |
| 7 | g.41966258C>A | CA367320287 | GLI3 | c.2815G>T (p.Gly939Trp) c.2641G>T (p.Gly881Trp) n.2792G>T c.2638G>T (p.Gly880Trp) c.2812G>T (p.Gly938Trp) | gnomAD v4 |
| 7 | g.41966258C= | CA1702661206 | GLI3 | c.2815G= (p.Gly939=) c.2641G= (p.Gly881=) n.2792G= c.2638G= (p.Gly880=) c.2812G= (p.Gly938=) | |
| 7 | g.41966258C>G | CA367320288 | GLI3 | c.2815G>C (p.Gly939Arg) c.2641G>C (p.Gly881Arg) n.2792G>C c.2638G>C (p.Gly880Arg) c.2812G>C (p.Gly938Arg) | |
| 7 | g.41966258C>T | CA367320289 | GLI3 | c.2815G>A (p.Gly939Arg) c.2641G>A (p.Gly881Arg) n.2792G>A c.2638G>A (p.Gly880Arg) c.2812G>A (p.Gly938Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41966259T>A | CA454662313 | GLI3 | c.2814A>T (p.Gly938=) c.2640A>T (p.Gly880=) n.2791A>T c.2637A>T (p.Gly879=) c.2811A>T (p.Gly937=) | |
| 7 | g.41966259T>C | CA454662314 | GLI3 | c.2814A>G (p.Gly938=) c.2640A>G (p.Gly880=) n.2791A>G c.2637A>G (p.Gly879=) c.2811A>G (p.Gly937=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41966259T>G | CA454662315 | GLI3 | c.2814A>C (p.Gly938=) c.2640A>C (p.Gly880=) n.2791A>C c.2637A>C (p.Gly879=) c.2811A>C (p.Gly937=) | |
| 7 | g.41966259T= | CA1702661207 | GLI3 | c.2814A= (p.Gly938=) c.2640A= (p.Gly880=) n.2791A= c.2637A= (p.Gly879=) c.2811A= (p.Gly937=) | |
| 7 | g.41966260C>A | CA367320290 | GLI3 | c.2813G>T (p.Gly938Val) c.2639G>T (p.Gly880Val) n.2790G>T c.2636G>T (p.Gly879Val) c.2810G>T (p.Gly937Val) | |
| 7 | g.41966260C>G | CA367320291 | GLI3 | c.2813G>C (p.Gly938Ala) c.2639G>C (p.Gly880Ala) n.2790G>C c.2636G>C (p.Gly879Ala) c.2810G>C (p.Gly937Ala) | |
| 7 | g.41966260C>T | CA367320292 | GLI3 | c.2813G>A (p.Gly938Glu) c.2639G>A (p.Gly880Glu) n.2790G>A c.2636G>A (p.Gly879Glu) c.2810G>A (p.Gly937Glu) | |
| 7 | g.41966261C>A | CA367320293 | GLI3 | c.2812G>T (p.Gly938Ter) c.2638G>T (p.Gly880Ter) n.2789G>T c.2635G>T (p.Gly879Ter) c.2809G>T (p.Gly937Ter) | |
| 7 | g.41966261C>G | CA367320294 | GLI3 | c.2812G>C (p.Gly938Arg) c.2638G>C (p.Gly880Arg) n.2789G>C c.2635G>C (p.Gly879Arg) c.2809G>C (p.Gly937Arg) | |
| 7 | g.41966261C>T | CA367320295 | GLI3 | c.2812G>A (p.Gly938Arg) c.2638G>A (p.Gly880Arg) n.2789G>A c.2635G>A (p.Gly879Arg) c.2809G>A (p.Gly937Arg) | |
| 7 | g.41966262T>A | CA454662322 | GLI3 | c.2811A>T (p.Thr937=) c.2637A>T (p.Thr879=) n.2788A>T c.2634A>T (p.Thr878=) c.2808A>T (p.Thr936=) | gnomAD v4 |
| 7 | g.41966262T>C | CA454662323 | GLI3 | c.2811A>G (p.Thr937=) c.2637A>G (p.Thr879=) n.2788A>G c.2634A>G (p.Thr878=) c.2808A>G (p.Thr936=) | |
| 7 | g.41966262T>G | CA454662324 | GLI3 | c.2811A>C (p.Thr937=) c.2637A>C (p.Thr879=) n.2788A>C c.2634A>C (p.Thr878=) c.2808A>C (p.Thr936=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.41966262T= | CA1702661208 | GLI3 | c.2811A= (p.Thr937=) c.2637A= (p.Thr879=) n.2788A= c.2634A= (p.Thr878=) c.2808A= (p.Thr936=) | |
| 7 | g.41966263G>A | CA367320296 | GLI3 | c.2810C>T (p.Thr937Ile) c.2636C>T (p.Thr879Ile) n.2787C>T c.2633C>T (p.Thr878Ile) c.2807C>T (p.Thr936Ile) | gnomAD v4 |
| 7 | g.41966263G>C | CA367320297 | GLI3 | c.2810C>G (p.Thr937Arg) c.2636C>G (p.Thr879Arg) n.2787C>G c.2633C>G (p.Thr878Arg) c.2807C>G (p.Thr936Arg) | |
| 7 | g.41966263G>T | CA367320298 | GLI3 | c.2810C>A (p.Thr937Lys) c.2636C>A (p.Thr879Lys) n.2787C>A c.2633C>A (p.Thr878Lys) c.2807C>A (p.Thr936Lys) | gnomAD v4 |
| 7 | g.41966264T>A | CA367320299 | GLI3 | c.2809A>T (p.Thr937Ser) c.2635A>T (p.Thr879Ser) n.2786A>T c.2632A>T (p.Thr878Ser) c.2806A>T (p.Thr936Ser) | |
| 7 | g.41966264T>C | CA367320301 | GLI3 | c.2809A>G (p.Thr937Ala) c.2635A>G (p.Thr879Ala) n.2786A>G c.2632A>G (p.Thr878Ala) c.2806A>G (p.Thr936Ala) | |
| 7 | g.41966264T>G | CA367320300 | GLI3 | c.2809A>C (p.Thr937Pro) c.2635A>C (p.Thr879Pro) n.2786A>C c.2632A>C (p.Thr878Pro) c.2806A>C (p.Thr936Pro) | |
| 7 | g.41966265G>A | CA454662327 | GLI3 | c.2808C>T (p.Ala936=) c.2634C>T (p.Ala878=) n.2785C>T c.2631C>T (p.Ala877=) c.2805C>T (p.Ala935=) | |
| 7 | g.41966265G>C | CA454662330 | GLI3 | c.2808C>G (p.Ala936=) c.2634C>G (p.Ala878=) n.2785C>G c.2631C>G (p.Ala877=) c.2805C>G (p.Ala935=) | |
| 7 | g.41966265G>T | CA454662333 | GLI3 | c.2808C>A (p.Ala936=) c.2634C>A (p.Ala878=) n.2785C>A c.2631C>A (p.Ala877=) c.2805C>A (p.Ala935=) | |
| 7 | g.41966266G>A | CA367320302 | GLI3 | c.2807C>T (p.Ala936Val) c.2633C>T (p.Ala878Val) n.2784C>T c.2630C>T (p.Ala877Val) c.2804C>T (p.Ala935Val) | gnomAD v4 |
| 7 | g.41966266G>C | CA367320303 | GLI3 | c.2807C>G (p.Ala936Gly) c.2633C>G (p.Ala878Gly) n.2784C>G c.2630C>G (p.Ala877Gly) c.2804C>G (p.Ala935Gly) | |
| 7 | g.41966266G>T | CA367320304 | GLI3 | c.2807C>A (p.Ala936Asp) c.2633C>A (p.Ala878Asp) n.2784C>A c.2630C>A (p.Ala877Asp) c.2804C>A (p.Ala935Asp) | gnomAD v4 |
| 7 | g.41966267C>A | CA367320305 | GLI3 | c.2806G>T (p.Ala936Ser) c.2632G>T (p.Ala878Ser) n.2783G>T c.2629G>T (p.Ala877Ser) c.2803G>T (p.Ala935Ser) | gnomAD v4 |
| 7 | g.41966267C>G | CA367320306 | GLI3 | c.2806G>C (p.Ala936Pro) c.2632G>C (p.Ala878Pro) n.2783G>C c.2629G>C (p.Ala877Pro) c.2803G>C (p.Ala935Pro) | |
| 7 | g.41966267C>T | CA367320307 | GLI3 | c.2806G>A (p.Ala936Thr) c.2632G>A (p.Ala878Thr) n.2783G>A c.2629G>A (p.Ala877Thr) c.2803G>A (p.Ala935Thr) | gnomAD v4 |
| 7 | g.41966268A>C | CA454662337 | GLI3 | c.2805T>G (p.Ala935=) c.2631T>G (p.Ala877=) n.2782T>G c.2628T>G (p.Ala876=) c.2802T>G (p.Ala934=) | |
| 7 | g.41966268A>G | CA454662338 | GLI3 | c.2805T>C (p.Ala935=) c.2631T>C (p.Ala877=) n.2782T>C c.2628T>C (p.Ala876=) c.2802T>C (p.Ala934=) | |
| 7 | g.41966268A>T | CA454662339 | GLI3 | c.2805T>A (p.Ala935=) c.2631T>A (p.Ala877=) n.2782T>A c.2628T>A (p.Ala876=) c.2802T>A (p.Ala934=) | |
| 7 | g.41966269G>A | CA367320308 | GLI3 | c.2804C>T (p.Ala935Val) c.2630C>T (p.Ala877Val) n.2781C>T c.2627C>T (p.Ala876Val) c.2801C>T (p.Ala934Val) | gnomAD v4 |
| 7 | g.41966269G>C | CA367320309 | GLI3 | c.2804C>G (p.Ala935Gly) c.2630C>G (p.Ala877Gly) n.2781C>G c.2627C>G (p.Ala876Gly) c.2801C>G (p.Ala934Gly) | |
| 7 | g.41966269G= | CA1702661209 | GLI3 | c.2804C= (p.Ala935=) c.2630C= (p.Ala877=) n.2781C= c.2627C= (p.Ala876=) c.2801C= (p.Ala934=) | |
| 7 | g.41966269G>T | CA367320310 | GLI3 | c.2804C>A (p.Ala935Asp) c.2630C>A (p.Ala877Asp) n.2781C>A c.2627C>A (p.Ala876Asp) c.2801C>A (p.Ala934Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41966270C>A | CA367320311 | GLI3 | c.2803G>T (p.Ala935Ser) c.2629G>T (p.Ala877Ser) n.2780G>T c.2626G>T (p.Ala876Ser) c.2800G>T (p.Ala934Ser) | COSMIC |
| 7 | g.41966270C= | CA1702661210 | GLI3 | c.2803G= (p.Ala935=) c.2629G= (p.Ala877=) n.2780G= c.2626G= (p.Ala876=) c.2800G= (p.Ala934=) | |
| 7 | g.41966270C>G | CA367320312 | GLI3 | c.2803G>C (p.Ala935Pro) c.2629G>C (p.Ala877Pro) n.2780G>C c.2626G>C (p.Ala876Pro) c.2800G>C (p.Ala934Pro) | dbSNP gnomAD v2 |
| 7 | g.41966270C>T | CA4230520 | GLI3 | c.2803G>A (p.Ala935Thr) c.2629G>A (p.Ala877Thr) n.2780G>A c.2626G>A (p.Ala876Thr) c.2800G>A (p.Ala934Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41966270_41966275dup | CA2580077126 | GLI3 | c.2798_2803dup (p.Ala934_Ala935insAspAla) c.2624_2629dup (p.Ala876_Ala877insAspAla) n.2775_2780dup c.2621_2626dup (p.Ala875_Ala876insAspAla) c.2795_2800dup (p.Ala933_Ala934insAspAla) | ClinVar |
| 7 | g.41966271C>A | CA454662344 | GLI3 | c.2802G>T (p.Ala934=) c.2628G>T (p.Ala876=) n.2779G>T c.2625G>T (p.Ala875=) c.2799G>T (p.Ala933=) | |
| 7 | g.41966271C= | CA1702661211 | GLI3 | c.2802G= (p.Ala934=) c.2628G= (p.Ala876=) n.2779G= c.2625G= (p.Ala875=) c.2799G= (p.Ala933=) | |
| 7 | g.41966271C>G | CA454662346 | GLI3 | c.2802G>C (p.Ala934=) c.2628G>C (p.Ala876=) n.2779G>C c.2625G>C (p.Ala875=) c.2799G>C (p.Ala933=) | dbSNP gnomAD v4 |
| 7 | g.41966271C>T | CA4230521 | GLI3 | c.2802G>A (p.Ala934=) c.2628G>A (p.Ala876=) n.2779G>A c.2625G>A (p.Ala875=) c.2799G>A (p.Ala933=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41966272G>A | CA4230522 | GLI3 | c.2801C>T (p.Ala934Val) c.2627C>T (p.Ala876Val) n.2778C>T c.2624C>T (p.Ala875Val) c.2798C>T (p.Ala933Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.41966272G>C | CA367320314 | GLI3 | c.2801C>G (p.Ala934Gly) c.2627C>G (p.Ala876Gly) n.2778C>G c.2624C>G (p.Ala875Gly) c.2798C>G (p.Ala933Gly) | |
| 7 | g.41966272G= | CA1702661212 | GLI3 | c.2801C= (p.Ala934=) c.2627C= (p.Ala876=) n.2778C= c.2624C= (p.Ala875=) c.2798C= (p.Ala933=) | |
| 7 | g.41966272G>T | CA367320313 | GLI3 | c.2801C>A (p.Ala934Glu) c.2627C>A (p.Ala876Glu) n.2778C>A c.2624C>A (p.Ala875Glu) c.2798C>A (p.Ala933Glu) | gnomAD v4 |
| 7 | g.41966273C>A | CA367320315 | GLI3 | c.2800G>T (p.Ala934Ser) c.2626G>T (p.Ala876Ser) n.2777G>T c.2623G>T (p.Ala875Ser) c.2797G>T (p.Ala933Ser) | |
| 7 | g.41966273C= | CA1702661213 | GLI3 | c.2800G= (p.Ala934=) c.2626G= (p.Ala876=) n.2777G= c.2623G= (p.Ala875=) c.2797G= (p.Ala933=) | |
| 7 | g.41966273C>G | CA130192 | GLI3 | c.2800G>C (p.Ala934Pro) c.2626G>C (p.Ala876Pro) n.2777G>C c.2623G>C (p.Ala875Pro) c.2797G>C (p.Ala933Pro) | ClinVar dbSNP |
| 7 | g.41966273C>T | CA367320316 | GLI3 | c.2800G>A (p.Ala934Thr) c.2626G>A (p.Ala876Thr) n.2777G>A c.2623G>A (p.Ala875Thr) c.2797G>A (p.Ala933Thr) | gnomAD v4 |
| 7 | g.41966274del | CA2695207660 | GLI3 | c.2799del (p.Tyr933Ter) c.2625del (p.Tyr875Ter) n.2776del c.2622del (p.Tyr874Ter) c.2796del (p.Tyr932Ter) | |
| 7 | g.41966274G>A | CA454662354 | GLI3 | c.2799C>T (p.Tyr933=) c.2625C>T (p.Tyr875=) n.2776C>T c.2622C>T (p.Tyr874=) c.2796C>T (p.Tyr932=) | gnomAD v4 COSMIC |
| 7 | g.41966274G>C | CA342936 | GLI3 | c.2799C>G (p.Tyr933Ter) c.2625C>G (p.Tyr875Ter) n.2776C>G c.2622C>G (p.Tyr874Ter) c.2796C>G (p.Tyr932Ter) | dbSNP |
| 7 | g.41966274G= | CA1702661214 | GLI3 | c.2799C= (p.Tyr933=) c.2625C= (p.Tyr875=) n.2776C= c.2622C= (p.Tyr874=) c.2796C= (p.Tyr932=) | |
| 7 | g.41966274G>T | CA367320317 | GLI3 | c.2799C>A (p.Tyr933Ter) c.2625C>A (p.Tyr875Ter) n.2776C>A c.2622C>A (p.Tyr874Ter) c.2796C>A (p.Tyr932Ter) | gnomAD v4 |
| 7 | g.41966275T>A | CA367320318 | GLI3 | c.2798A>T (p.Tyr933Phe) c.2624A>T (p.Tyr875Phe) n.2775A>T c.2621A>T (p.Tyr874Phe) c.2795A>T (p.Tyr932Phe) | |
| 7 | g.41966275T>C | CA367320319 | GLI3 | c.2798A>G (p.Tyr933Cys) c.2624A>G (p.Tyr875Cys) n.2775A>G c.2621A>G (p.Tyr874Cys) c.2795A>G (p.Tyr932Cys) | |
| 7 | g.41966275T>G | CA367320320 | GLI3 | c.2798A>C (p.Tyr933Ser) c.2624A>C (p.Tyr875Ser) n.2775A>C c.2621A>C (p.Tyr874Ser) c.2795A>C (p.Tyr932Ser) | |
| 7 | g.41966276A>C | CA367320321 | GLI3 | c.2797T>G (p.Tyr933Asp) c.2623T>G (p.Tyr875Asp) n.2774T>G c.2620T>G (p.Tyr874Asp) c.2794T>G (p.Tyr932Asp) | dbSNP |
| 7 | g.41966276A>G | CA367320322 | GLI3 | c.2797T>C (p.Tyr933His) c.2623T>C (p.Tyr875His) n.2774T>C c.2620T>C (p.Tyr874His) c.2794T>C (p.Tyr932His) | |
| 7 | g.41966276A>T | CA367320323 | GLI3 | c.2797T>A (p.Tyr933Asn) c.2623T>A (p.Tyr875Asn) n.2774T>A c.2620T>A (p.Tyr874Asn) c.2794T>A (p.Tyr932Asn) | |
| 7 | g.41966277C>A | CA367320325 | GLI3 | c.2796G>T (p.Lys932Asn) c.2622G>T (p.Lys874Asn) n.2773G>T c.2619G>T (p.Lys873Asn) c.2793G>T (p.Lys931Asn) | |
| 7 | g.41966277C>G | CA367320324 | GLI3 | c.2796G>C (p.Lys932Asn) c.2622G>C (p.Lys874Asn) n.2773G>C c.2619G>C (p.Lys873Asn) c.2793G>C (p.Lys931Asn) | |
| 7 | g.41966277C>T | CA454662362 | GLI3 | c.2796G>A (p.Lys932=) c.2622G>A (p.Lys874=) n.2773G>A c.2619G>A (p.Lys873=) c.2793G>A (p.Lys931=) | |
| 7 | g.41966278T>A | CA367320326 | GLI3 | c.2795A>T (p.Lys932Met) c.2621A>T (p.Lys874Met) n.2772A>T c.2618A>T (p.Lys873Met) c.2792A>T (p.Lys931Met) | |
| 7 | g.41966278T>C | CA4230523 | GLI3 | c.2795A>G (p.Lys932Arg) c.2621A>G (p.Lys874Arg) n.2772A>G c.2618A>G (p.Lys873Arg) c.2792A>G (p.Lys931Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41966278T>G | CA367320327 | GLI3 | c.2795A>C (p.Lys932Thr) c.2621A>C (p.Lys874Thr) n.2772A>C c.2618A>C (p.Lys873Thr) c.2792A>C (p.Lys931Thr) | COSMIC |
| 7 | g.41966278T= | CA1702661215 | GLI3 | c.2795A= (p.Lys932=) c.2621A= (p.Lys874=) n.2772A= c.2618A= (p.Lys873=) c.2792A= (p.Lys931=) | |
| 7 | g.41966279T>A | CA367320328 | GLI3 | c.2794A>T (p.Lys932Ter) c.2620A>T (p.Lys874Ter) n.2771A>T c.2617A>T (p.Lys873Ter) c.2791A>T (p.Lys931Ter) | |
| 7 | g.41966279T>C | CA367320329 | GLI3 | c.2794A>G (p.Lys932Glu) c.2620A>G (p.Lys874Glu) n.2771A>G c.2617A>G (p.Lys873Glu) c.2791A>G (p.Lys931Glu) | gnomAD v4 |
| 7 | g.41966279T>G | CA367320330 | GLI3 | c.2794A>C (p.Lys932Gln) c.2620A>C (p.Lys874Gln) n.2771A>C c.2617A>C (p.Lys873Gln) c.2791A>C (p.Lys931Gln) | |
| 7 | g.41966280G>A | CA454662370 | GLI3 | c.2793C>T (p.Ala931=) c.2619C>T (p.Ala873=) n.2770C>T c.2616C>T (p.Ala872=) c.2790C>T (p.Ala930=) | |
| 7 | g.41966280G>C | CA454662372 | GLI3 | c.2793C>G (p.Ala931=) c.2619C>G (p.Ala873=) n.2770C>G c.2616C>G (p.Ala872=) c.2790C>G (p.Ala930=) | |
| 7 | g.41966280G>T | CA454662371 | GLI3 | c.2793C>A (p.Ala931=) c.2619C>A (p.Ala873=) n.2770C>A c.2616C>A (p.Ala872=) c.2790C>A (p.Ala930=) | gnomAD v4 |
| 7 | g.41966281G>A | CA367320333 | GLI3 | c.2792C>T (p.Ala931Val) c.2618C>T (p.Ala873Val) n.2769C>T c.2615C>T (p.Ala872Val) c.2789C>T (p.Ala930Val) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41966281G>C | CA367320331 | GLI3 | c.2792C>G (p.Ala931Gly) c.2618C>G (p.Ala873Gly) n.2769C>G c.2615C>G (p.Ala872Gly) c.2789C>G (p.Ala930Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41966281G= | CA1702661216 | GLI3 | c.2792C= (p.Ala931=) c.2618C= (p.Ala873=) n.2769C= c.2615C= (p.Ala872=) c.2789C= (p.Ala930=) | |
| 7 | g.41966281G>T | CA367320332 | GLI3 | c.2792C>A (p.Ala931Asp) c.2618C>A (p.Ala873Asp) n.2769C>A c.2615C>A (p.Ala872Asp) c.2789C>A (p.Ala930Asp) | gnomAD v4 |
| 7 | g.41966282C>A | CA367320334 | GLI3 | c.2791G>T (p.Ala931Ser) c.2617G>T (p.Ala873Ser) n.2768G>T c.2614G>T (p.Ala872Ser) c.2788G>T (p.Ala930Ser) | gnomAD v4 |
| 7 | g.41966282C>G | CA367320335 | GLI3 | c.2791G>C (p.Ala931Pro) c.2617G>C (p.Ala873Pro) n.2768G>C c.2614G>C (p.Ala872Pro) c.2788G>C (p.Ala930Pro) | |
| 7 | g.41966282C>T | CA367320336 | GLI3 | c.2791G>A (p.Ala931Thr) c.2617G>A (p.Ala873Thr) n.2768G>A c.2614G>A (p.Ala872Thr) c.2788G>A (p.Ala930Thr) | gnomAD v4 |
| 7 | g.41966283C>A | CA367320337 | GLI3 | c.2790G>T (p.Lys930Asn) c.2616G>T (p.Lys872Asn) n.2767G>T c.2613G>T (p.Lys871Asn) c.2787G>T (p.Lys929Asn) | |
| 7 | g.41966283C= | CA1702661217 | GLI3 | c.2790G= (p.Lys930=) c.2616G= (p.Lys872=) n.2767G= c.2613G= (p.Lys871=) c.2787G= (p.Lys929=) | |
| 7 | g.41966283C>G | CA367320338 | GLI3 | c.2790G>C (p.Lys930Asn) c.2616G>C (p.Lys872Asn) n.2767G>C c.2613G>C (p.Lys871Asn) c.2787G>C (p.Lys929Asn) | |
| 7 | g.41966283C>T | CA454662378 | GLI3 | c.2790G>A (p.Lys930=) c.2616G>A (p.Lys872=) n.2767G>A c.2613G>A (p.Lys871=) c.2787G>A (p.Lys929=) | dbSNP gnomAD v4 |
| 7 | g.41966284T>A | CA367320341 | GLI3 | c.2789A>T (p.Lys930Met) c.2615A>T (p.Lys872Met) n.2766A>T c.2612A>T (p.Lys871Met) c.2786A>T (p.Lys929Met) | |
| 7 | g.41966284T>C | CA367320339 | GLI3 | c.2789A>G (p.Lys930Arg) c.2615A>G (p.Lys872Arg) n.2766A>G c.2612A>G (p.Lys871Arg) c.2786A>G (p.Lys929Arg) | |
| 7 | g.41966284T>G | CA367320340 | GLI3 | c.2789A>C (p.Lys930Thr) c.2615A>C (p.Lys872Thr) n.2766A>C c.2612A>C (p.Lys871Thr) c.2786A>C (p.Lys929Thr) | |
| 7 | g.41966285T>A | CA367320342 | GLI3 | c.2788A>T (p.Lys930Ter) c.2614A>T (p.Lys872Ter) n.2765A>T c.2611A>T (p.Lys871Ter) c.2785A>T (p.Lys929Ter) | |
| 7 | g.41966285T>C | CA367320343 | GLI3 | c.2788A>G (p.Lys930Glu) c.2614A>G (p.Lys872Glu) n.2765A>G c.2611A>G (p.Lys871Glu) c.2785A>G (p.Lys929Glu) | gnomAD v4 |
| 7 | g.41966285T>G | CA367320344 | GLI3 | c.2788A>C (p.Lys930Gln) c.2614A>C (p.Lys872Gln) n.2765A>C c.2611A>C (p.Lys871Gln) c.2785A>C (p.Lys929Gln) | gnomAD v4 |
| 7 | g.41966286G>A | CA454662388 | GLI3 | c.2787C>T (p.Leu929=) c.2613C>T (p.Leu871=) n.2764C>T c.2610C>T (p.Leu870=) c.2784C>T (p.Leu928=) | gnomAD v4 |
| 7 | g.41966286G>C | CA454662390 | GLI3 | c.2787C>G (p.Leu929=) c.2613C>G (p.Leu871=) n.2764C>G c.2610C>G (p.Leu870=) c.2784C>G (p.Leu928=) | |
| 7 | g.41966286G>T | CA454662391 | GLI3 | c.2787C>A (p.Leu929=) c.2613C>A (p.Leu871=) n.2764C>A c.2610C>A (p.Leu870=) c.2784C>A (p.Leu928=) | gnomAD v4 |
| 7 | g.41966287A>C | CA367320345 | GLI3 | c.2786T>G (p.Leu929Arg) c.2612T>G (p.Leu871Arg) n.2763T>G c.2609T>G (p.Leu870Arg) c.2783T>G (p.Leu928Arg) | |
| 7 | g.41966287A>G | CA367320346 | GLI3 | c.2786T>C (p.Leu929Pro) c.2612T>C (p.Leu871Pro) n.2763T>C c.2609T>C (p.Leu870Pro) c.2783T>C (p.Leu928Pro) | |
| 7 | g.41966287A>T | CA367320347 | GLI3 | c.2786T>A (p.Leu929His) c.2612T>A (p.Leu871His) n.2763T>A c.2609T>A (p.Leu870His) c.2783T>A (p.Leu928His) | |
| 7 | g.41966288G>A | CA367320348 | GLI3 | c.2785C>T (p.Leu929Phe) c.2611C>T (p.Leu871Phe) n.2762C>T c.2608C>T (p.Leu870Phe) c.2782C>T (p.Leu928Phe) | |
| 7 | g.41966288G>C | CA367320349 | GLI3 | c.2785C>G (p.Leu929Val) c.2611C>G (p.Leu871Val) n.2762C>G c.2608C>G (p.Leu870Val) c.2782C>G (p.Leu928Val) | |
| 7 | g.41966288G>T | CA367320350 | GLI3 | c.2785C>A (p.Leu929Ile) c.2611C>A (p.Leu871Ile) n.2762C>A c.2608C>A (p.Leu870Ile) c.2782C>A (p.Leu928Ile) | gnomAD v4 COSMIC |
| 7 | g.41966289G>A | CA4230524 | GLI3 | c.2784C>T (p.Arg928=) c.2610C>T (p.Arg870=) n.2761C>T c.2607C>T (p.Arg869=) c.2781C>T (p.Arg927=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41966289G>C | CA454662399 | GLI3 | c.2784C>G (p.Arg928=) c.2610C>G (p.Arg870=) n.2761C>G c.2607C>G (p.Arg869=) c.2781C>G (p.Arg927=) | |
| 7 | g.41966289G= | CA1702661218 | GLI3 | c.2784C= (p.Arg928=) c.2610C= (p.Arg870=) n.2761C= c.2607C= (p.Arg869=) c.2781C= (p.Arg927=) | |
| 7 | g.41966289G>T | CA454662400 | GLI3 | c.2784C>A (p.Arg928=) c.2610C>A (p.Arg870=) n.2761C>A c.2607C>A (p.Arg869=) c.2781C>A (p.Arg927=) | gnomAD v4 |
| 7 | g.41966290C>A | CA367320351 | GLI3 | c.2783G>T (p.Arg928Leu) c.2609G>T (p.Arg870Leu) n.2760G>T c.2606G>T (p.Arg869Leu) c.2780G>T (p.Arg927Leu) | dbSNP gnomAD v4 |
| 7 | g.41966290C= | CA1702661219 | GLI3 | c.2783G= (p.Arg928=) c.2609G= (p.Arg870=) n.2760G= c.2606G= (p.Arg869=) c.2780G= (p.Arg927=) | |
| 7 | g.41966290C>G | CA367320352 | GLI3 | c.2783G>C (p.Arg928Pro) c.2609G>C (p.Arg870Pro) n.2760G>C c.2606G>C (p.Arg869Pro) c.2780G>C (p.Arg927Pro) | |
| 7 | g.41966290C>T | CA367320353 | GLI3 | c.2783G>A (p.Arg928His) c.2609G>A (p.Arg870His) n.2760G>A c.2606G>A (p.Arg869His) c.2780G>A (p.Arg927His) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.41966291G>A | CA367320356 | GLI3 | c.2782C>T (p.Arg928Cys) c.2608C>T (p.Arg870Cys) n.2759C>T c.2605C>T (p.Arg869Cys) c.2779C>T (p.Arg927Cys) | dbSNP gnomAD v4 |
| 7 | g.41966291G>C | CA367320354 | GLI3 | c.2782C>G (p.Arg928Gly) c.2608C>G (p.Arg870Gly) n.2759C>G c.2605C>G (p.Arg869Gly) c.2779C>G (p.Arg927Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41966291G= | CA1702661220 | GLI3 | c.2782C= (p.Arg928=) c.2608C= (p.Arg870=) n.2759C= c.2605C= (p.Arg869=) c.2779C= (p.Arg927=) | |
| 7 | g.41966291G>T | CA367320355 | GLI3 | c.2782C>A (p.Arg928Ser) c.2608C>A (p.Arg870Ser) n.2759C>A c.2605C>A (p.Arg869Ser) c.2779C>A (p.Arg927Ser) | dbSNP gnomAD v4 |
| 7 | g.41966292G>A | CA454662404 | GLI3 | c.2781C>T (p.Tyr927=) c.2607C>T (p.Tyr869=) n.2758C>T c.2604C>T (p.Tyr868=) c.2778C>T (p.Tyr926=) | gnomAD v4 |
| 7 | g.41966292G>C | CA367320357 | GLI3 | c.2781C>G (p.Tyr927Ter) c.2607C>G (p.Tyr869Ter) n.2758C>G c.2604C>G (p.Tyr868Ter) c.2778C>G (p.Tyr926Ter) | |
| 7 | g.41966292G>T | CA367320358 | GLI3 | c.2781C>A (p.Tyr927Ter) c.2607C>A (p.Tyr869Ter) n.2758C>A c.2604C>A (p.Tyr868Ter) c.2778C>A (p.Tyr926Ter) | gnomAD v4 |
| 7 | g.41966293T>A | CA367320359 | GLI3 | c.2780A>T (p.Tyr927Phe) c.2606A>T (p.Tyr869Phe) n.2757A>T c.2603A>T (p.Tyr868Phe) c.2777A>T (p.Tyr926Phe) | |
| 7 | g.41966293T>C | CA367320360 | GLI3 | c.2780A>G (p.Tyr927Cys) c.2606A>G (p.Tyr869Cys) n.2757A>G c.2603A>G (p.Tyr868Cys) c.2777A>G (p.Tyr926Cys) | gnomAD v4 |
| 7 | g.41966293T>G | CA367320361 | GLI3 | c.2780A>C (p.Tyr927Ser) c.2606A>C (p.Tyr869Ser) n.2757A>C c.2603A>C (p.Tyr868Ser) c.2777A>C (p.Tyr926Ser) | |
| 7 | g.41966294A>C | CA367320364 | GLI3 | c.2779T>G (p.Tyr927Asp) c.2605T>G (p.Tyr869Asp) n.2756T>G c.2602T>G (p.Tyr868Asp) c.2776T>G (p.Tyr926Asp) | |
| 7 | g.41966294A>G | CA367320363 | GLI3 | c.2779T>C (p.Tyr927His) c.2605T>C (p.Tyr869His) n.2756T>C c.2602T>C (p.Tyr868His) c.2776T>C (p.Tyr926His) | |
| 7 | g.41966294A>T | CA367320362 | GLI3 | c.2779T>A (p.Tyr927Asn) c.2605T>A (p.Tyr869Asn) n.2756T>A c.2602T>A (p.Tyr868Asn) c.2776T>A (p.Tyr926Asn) | |
| 7 | g.41966295C>A | CA367320365 | GLI3 | c.2778G>T (p.Gln926His) c.2604G>T (p.Gln868His) n.2755G>T c.2601G>T (p.Gln867His) c.2775G>T (p.Gln925His) | |
| 7 | g.41966295C= | CA1702661221 | GLI3 | c.2778G= (p.Gln926=) c.2604G= (p.Gln868=) n.2755G= c.2601G= (p.Gln867=) c.2775G= (p.Gln925=) | |
| 7 | g.41966295C>G | CA367320366 | GLI3 | c.2778G>C (p.Gln926His) c.2604G>C (p.Gln868His) n.2755G>C c.2601G>C (p.Gln867His) c.2775G>C (p.Gln925His) | |
| 7 | g.41966295C>T | CA4230525 | GLI3 | c.2778G>A (p.Gln926=) c.2604G>A (p.Gln868=) n.2755G>A c.2601G>A (p.Gln867=) c.2775G>A (p.Gln925=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41966298_41966300del | CA2695207661 | GLI3 | c.2776_2778del (p.Gln926del) c.2602_2604del (p.Gln868del) n.2753_2755del c.2599_2601del (p.Gln867del) c.2773_2775del (p.Gln925del) | |
| 7 | g.41966296T>A | CA367320367 | GLI3 | c.2777A>T (p.Gln926Leu) c.2603A>T (p.Gln868Leu) n.2754A>T c.2600A>T (p.Gln867Leu) c.2774A>T (p.Gln925Leu) | |
| 7 | g.41966296T>C | CA367320368 | GLI3 | c.2777A>G (p.Gln926Arg) c.2603A>G (p.Gln868Arg) n.2754A>G c.2600A>G (p.Gln867Arg) c.2774A>G (p.Gln925Arg) | |
| 7 | g.41966296T>G | CA367320369 | GLI3 | c.2777A>C (p.Gln926Pro) c.2603A>C (p.Gln868Pro) n.2754A>C c.2600A>C (p.Gln867Pro) c.2774A>C (p.Gln925Pro) | |
| 7 | g.41966297G>A | CA367320371 | GLI3 | c.2776C>T (p.Gln926Ter) c.2602C>T (p.Gln868Ter) n.2753C>T c.2599C>T (p.Gln867Ter) c.2773C>T (p.Gln925Ter) | gnomAD v4 |
| 7 | g.41966297G>C | CA367320370 | GLI3 | c.2776C>G (p.Gln926Glu) c.2602C>G (p.Gln868Glu) n.2753C>G c.2599C>G (p.Gln867Glu) c.2773C>G (p.Gln925Glu) | dbSNP |
| 7 | g.41966297G= | CA1702661222 | GLI3 | c.2776C= (p.Gln926=) c.2602C= (p.Gln868=) n.2753C= c.2599C= (p.Gln867=) c.2773C= (p.Gln925=) | |
| 7 | g.41966297G>T | CA156905337 | GLI3 | c.2776C>A (p.Gln926Lys) c.2602C>A (p.Gln868Lys) n.2753C>A c.2599C>A (p.Gln867Lys) c.2773C>A (p.Gln925Lys) | dbSNP gnomAD v4 |
| 7 | g.41966298C>A | CA367320372 | GLI3 | c.2775G>T (p.Gln925His) c.2601G>T (p.Gln867His) n.2752G>T c.2598G>T (p.Gln866His) c.2772G>T (p.Gln924His) | gnomAD v4 |
| 7 | g.41966298C>G | CA367320373 | GLI3 | c.2775G>C (p.Gln925His) c.2601G>C (p.Gln867His) n.2752G>C c.2598G>C (p.Gln866His) c.2772G>C (p.Gln924His) | |
| 7 | g.41966298C>T | CA454662426 | GLI3 | c.2775G>A (p.Gln925=) c.2601G>A (p.Gln867=) n.2752G>A c.2598G>A (p.Gln866=) c.2772G>A (p.Gln924=) | gnomAD v4 |
| 7 | g.41966299T>A | CA367320374 | GLI3 | c.2774A>T (p.Gln925Leu) c.2600A>T (p.Gln867Leu) n.2751A>T c.2597A>T (p.Gln866Leu) c.2771A>T (p.Gln924Leu) | |
| 7 | g.41966299T>C | CA367320375 | GLI3 | c.2774A>G (p.Gln925Arg) c.2600A>G (p.Gln867Arg) n.2751A>G c.2597A>G (p.Gln866Arg) c.2771A>G (p.Gln924Arg) | |
| 7 | g.41966299T>G | CA367320376 | GLI3 | c.2774A>C (p.Gln925Pro) c.2600A>C (p.Gln867Pro) n.2751A>C c.2597A>C (p.Gln866Pro) c.2771A>C (p.Gln924Pro) | ClinVar |
| 7 | g.41966300G>A | CA367320377 | GLI3 | c.2773C>T (p.Gln925Ter) c.2599C>T (p.Gln867Ter) n.2750C>T c.2596C>T (p.Gln866Ter) c.2770C>T (p.Gln924Ter) | ClinVar dbSNP |
| 7 | g.41966300G>C | CA367320378 | GLI3 | c.2773C>G (p.Gln925Glu) c.2599C>G (p.Gln867Glu) n.2750C>G c.2596C>G (p.Gln866Glu) c.2770C>G (p.Gln924Glu) | |
| 7 | g.41966300G= | CA1702661223 | GLI3 | c.2773C= (p.Gln925=) c.2599C= (p.Gln867=) n.2750C= c.2596C= (p.Gln866=) c.2770C= (p.Gln924=) | |
| 7 | g.41966300G>T | CA367320379 | GLI3 | c.2773C>A (p.Gln925Lys) c.2599C>A (p.Gln867Lys) n.2750C>A c.2596C>A (p.Gln866Lys) c.2770C>A (p.Gln924Lys) | gnomAD v4 |
| 7 | g.41966301G>A | CA454662439 | GLI3 | c.2772C>T (p.Ala924=) c.2598C>T (p.Ala866=) n.2749C>T c.2595C>T (p.Ala865=) c.2769C>T (p.Ala923=) | |
| 7 | g.41966301G>C | CA4230526 | GLI3 | c.2772C>G (p.Ala924=) c.2598C>G (p.Ala866=) n.2749C>G c.2595C>G (p.Ala865=) c.2769C>G (p.Ala923=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41966301G= | CA1702661224 | GLI3 | c.2772C= (p.Ala924=) c.2598C= (p.Ala866=) n.2749C= c.2595C= (p.Ala865=) c.2769C= (p.Ala923=) | |
| 7 | g.41966301G>T | CA454662438 | GLI3 | c.2772C>A (p.Ala924=) c.2598C>A (p.Ala866=) n.2749C>A c.2595C>A (p.Ala865=) c.2769C>A (p.Ala923=) | dbSNP gnomAD v4 |
| 7 | g.41966302G>A | CA367320380 | GLI3 | c.2771C>T (p.Ala924Val) c.2597C>T (p.Ala866Val) n.2748C>T c.2594C>T (p.Ala865Val) c.2768C>T (p.Ala923Val) | dbSNP |
| 7 | g.41966302G>C | CA367320381 | GLI3 | c.2771C>G (p.Ala924Gly) c.2597C>G (p.Ala866Gly) n.2748C>G c.2594C>G (p.Ala865Gly) c.2768C>G (p.Ala923Gly) | |
| 7 | g.41966302G= | CA1702661225 | GLI3 | c.2771C= (p.Ala924=) c.2597C= (p.Ala866=) n.2748C= c.2594C= (p.Ala865=) c.2768C= (p.Ala923=) | |
| 7 | g.41966302G>T | CA367320382 | GLI3 | c.2771C>A (p.Ala924Asp) c.2597C>A (p.Ala866Asp) n.2748C>A c.2594C>A (p.Ala865Asp) c.2768C>A (p.Ala923Asp) | dbSNP gnomAD v4 |
| 7 | g.41966303C>A | CA367320385 | GLI3 | c.2770G>T (p.Ala924Ser) c.2596G>T (p.Ala866Ser) n.2747G>T c.2593G>T (p.Ala865Ser) c.2767G>T (p.Ala923Ser) | dbSNP |
| 7 | g.41966303C= | CA1702661226 | GLI3 | c.2770G= (p.Ala924=) c.2596G= (p.Ala866=) n.2747G= c.2593G= (p.Ala865=) c.2767G= (p.Ala923=) | |
| 7 | g.41966303C>G | CA367320383 | GLI3 | c.2770G>C (p.Ala924Pro) c.2596G>C (p.Ala866Pro) n.2747G>C c.2593G>C (p.Ala865Pro) c.2767G>C (p.Ala923Pro) | |
| 7 | g.41966303C>T | CA367320384 | GLI3 | c.2770G>A (p.Ala924Thr) c.2596G>A (p.Ala866Thr) n.2747G>A c.2593G>A (p.Ala865Thr) c.2767G>A (p.Ala923Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41966304G>A | CA4230527 | GLI3 | c.2769C>T (p.Pro923=) c.2595C>T (p.Pro865=) n.2746C>T c.2592C>T (p.Pro864=) c.2766C>T (p.Pro922=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.41966304G>C | CA454662442 | GLI3 | c.2769C>G (p.Pro923=) c.2595C>G (p.Pro865=) n.2746C>G c.2592C>G (p.Pro864=) c.2766C>G (p.Pro922=) | |
| 7 | g.41966304G= | CA1702661227 | GLI3 | c.2769C= (p.Pro923=) c.2595C= (p.Pro865=) n.2746C= c.2592C= (p.Pro864=) c.2766C= (p.Pro922=) | |
| 7 | g.41966304G>T | CA454662444 | GLI3 | c.2769C>A (p.Pro923=) c.2595C>A (p.Pro865=) n.2746C>A c.2592C>A (p.Pro864=) c.2766C>A (p.Pro922=) | gnomAD v4 |
| 7 | g.41966306del | CA2682510164 | GLI3 | c.2769del (p.Ala924ProfsTer28) c.2595del (p.Ala866ProfsTer28) n.2746del c.2592del (p.Ala865ProfsTer28) c.2766del (p.Ala923ProfsTer28) | gnomAD v4 |
| 7 | g.41966305G>A | CA367320388 | GLI3 | c.2768C>T (p.Pro923Leu) c.2594C>T (p.Pro865Leu) n.2745C>T c.2591C>T (p.Pro864Leu) c.2765C>T (p.Pro922Leu) | |
| 7 | g.41966305G>C | CA367320386 | GLI3 | c.2768C>G (p.Pro923Arg) c.2594C>G (p.Pro865Arg) n.2745C>G c.2591C>G (p.Pro864Arg) c.2765C>G (p.Pro922Arg) | |
| 7 | g.41966305G>T | CA367320387 | GLI3 | c.2768C>A (p.Pro923His) c.2594C>A (p.Pro865His) n.2745C>A c.2591C>A (p.Pro864His) c.2765C>A (p.Pro922His) | gnomAD v4 |
| 7 | g.41966306G>A | CA367320389 | GLI3 | c.2767C>T (p.Pro923Ser) c.2593C>T (p.Pro865Ser) n.2744C>T c.2590C>T (p.Pro864Ser) c.2764C>T (p.Pro922Ser) | dbSNP gnomAD v4 |
| 7 | g.41966306G>C | CA367320390 | GLI3 | c.2767C>G (p.Pro923Ala) c.2593C>G (p.Pro865Ala) n.2744C>G c.2590C>G (p.Pro864Ala) c.2764C>G (p.Pro922Ala) | dbSNP |
| 7 | g.41966306G= | CA1702661228 | GLI3 | c.2767C= (p.Pro923=) c.2593C= (p.Pro865=) n.2744C= c.2590C= (p.Pro864=) c.2764C= (p.Pro922=) | |
| 7 | g.41966306G>T | CA367320391 | GLI3 | c.2767C>A (p.Pro923Thr) c.2593C>A (p.Pro865Thr) n.2744C>A c.2590C>A (p.Pro864Thr) c.2764C>A (p.Pro922Thr) | gnomAD v4 |
| 7 | g.41966307C>A | CA454662446 | GLI3 | c.2766G>T (p.Thr922=) c.2592G>T (p.Thr864=) n.2743G>T c.2589G>T (p.Thr863=) c.2763G>T (p.Thr921=) | |
| 7 | g.41966307C= | CA1702661229 | GLI3 | c.2766G= (p.Thr922=) c.2592G= (p.Thr864=) n.2743G= c.2589G= (p.Thr863=) c.2763G= (p.Thr921=) | |
| 7 | g.41966307C>G | CA454662454 | GLI3 | c.2766G>C (p.Thr922=) c.2592G>C (p.Thr864=) n.2743G>C c.2589G>C (p.Thr863=) c.2763G>C (p.Thr921=) | |
| 7 | g.41966307C>T | CA4230528 | GLI3 | c.2766G>A (p.Thr922=) c.2592G>A (p.Thr864=) n.2743G>A c.2589G>A (p.Thr863=) c.2763G>A (p.Thr921=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41966308G>A | CA4230529 | GLI3 | c.2765C>T (p.Thr922Met) c.2591C>T (p.Thr864Met) n.2742C>T c.2588C>T (p.Thr863Met) c.2762C>T (p.Thr921Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.41966308G>C | CA367320392 | GLI3 | c.2765C>G (p.Thr922Arg) c.2591C>G (p.Thr864Arg) n.2742C>G c.2588C>G (p.Thr863Arg) c.2762C>G (p.Thr921Arg) | gnomAD v4 |
| 7 | g.41966308G= | CA1702661230 | GLI3 | c.2765C= (p.Thr922=) c.2591C= (p.Thr864=) n.2742C= c.2588C= (p.Thr863=) c.2762C= (p.Thr921=) | |
| 7 | g.41966308G>T | CA367320393 | GLI3 | c.2765C>A (p.Thr922Lys) c.2591C>A (p.Thr864Lys) n.2742C>A c.2588C>A (p.Thr863Lys) c.2762C>A (p.Thr921Lys) | |
| 7 | g.41966309T>A | CA367320394 | GLI3 | c.2764A>T (p.Thr922Ser) c.2590A>T (p.Thr864Ser) n.2741A>T c.2587A>T (p.Thr863Ser) c.2761A>T (p.Thr921Ser) | |
| 7 | g.41966309T>C | CA367320395 | GLI3 | c.2764A>G (p.Thr922Ala) c.2590A>G (p.Thr864Ala) n.2741A>G c.2587A>G (p.Thr863Ala) c.2761A>G (p.Thr921Ala) | |
| 7 | g.41966309T>G | CA367320396 | GLI3 | c.2764A>C (p.Thr922Pro) c.2590A>C (p.Thr864Pro) n.2741A>C c.2587A>C (p.Thr863Pro) c.2761A>C (p.Thr921Pro) | |
| 7 | g.41966309_41966311del | CA2682510165 | GLI3 | c.2762_2764del (p.Leu921_Thr922delinsPro) c.2588_2590del (p.Leu863_Thr864delinsPro) n.2739_2741del c.2585_2587del (p.Leu862_Thr863delinsPro) c.2759_2761del (p.Leu920_Thr921delinsPro) | gnomAD v4 |
| 7 | g.41966309_41966364delinsTGAGGCTGAGCAGGCTGGGCAGGCCGTCGCTCTGGCTGGCTTCGCTGGAGCGGCGC | CA1702661231 | GLI3 | c.2709_2764delinsGCGCCGCTCCAGCGAAGCCAGCCAGAGCGACGGCCTGCCCAGCCTGCTCAGCCTCA (p.Ser903=) c.2535_2590delinsGCGCCGCTCCAGCGAAGCCAGCCAGAGCGACGGCCTGCCCAGCCTGCTCAGCCTCA (p.Ser845=) n.2686_2741delinsGCGCCGCTCCAGCGAAGCCAGCCAGAGCGACGGCCTGCCCAGCCTGCTCAGCCTCA c.2532_2587delinsGCGCCGCTCCAGCGAAGCCAGCCAGAGCGACGGCCTGCCCAGCCTGCTCAGCCTCA (p.Ser844=) c.2706_2761delinsGCGCCGCTCCAGCGAAGCCAGCCAGAGCGACGGCCTGCCCAGCCTGCTCAGCCTCA (p.Ser902=) | |
| 7 | g.41966310G>A | CA454662460 | GLI3 | c.2763C>T (p.Leu921=) c.2589C>T (p.Leu863=) n.2740C>T c.2586C>T (p.Leu862=) c.2760C>T (p.Leu920=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.41966310G>C | CA454662461 | GLI3 | c.2763C>G (p.Leu921=) c.2589C>G (p.Leu863=) n.2740C>G c.2586C>G (p.Leu862=) c.2760C>G (p.Leu920=) | gnomAD v4 |
| 7 | g.41966310G= | CA1702661232 | GLI3 | c.2763C= (p.Leu921=) c.2589C= (p.Leu863=) n.2740C= c.2586C= (p.Leu862=) c.2760C= (p.Leu920=) | |
| 7 | g.41966310G>T | CA454662463 | GLI3 | c.2763C>A (p.Leu921=) c.2589C>A (p.Leu863=) n.2740C>A c.2586C>A (p.Leu862=) c.2760C>A (p.Leu920=) | gnomAD v4 |
| 7 | g.41966310_41966319delinsGAGGCTGAGC | CA1702661233 | GLI3 | c.2754_2763delinsGCTCAGCCTC (p.Leu918=) c.2580_2589delinsGCTCAGCCTC (p.Leu860=) n.2731_2740delinsGCTCAGCCTC c.2577_2586delinsGCTCAGCCTC (p.Leu859=) c.2751_2760delinsGCTCAGCCTC (p.Leu917=) | |
| 7 | g.41966315_41966369del | CA1139660047 | GLI3 | c.2709_2763del (p.Arg905ProfsTer?) c.2535_2589del (p.Arg847ProfsTer?) n.2686_2740del c.2532_2586del (p.Arg846ProfsTer?) c.2706_2760del (p.Arg904ProfsTer?) | ClinVar dbSNP |
| 7 | g.41966311A>C | CA367320399 | GLI3 | c.2762T>G (p.Leu921Arg) c.2588T>G (p.Leu863Arg) n.2739T>G c.2585T>G (p.Leu862Arg) c.2759T>G (p.Leu920Arg) | |
| 7 | g.41966311A>G | CA367320397 | GLI3 | c.2762T>C (p.Leu921Pro) c.2588T>C (p.Leu863Pro) n.2739T>C c.2585T>C (p.Leu862Pro) c.2759T>C (p.Leu920Pro) | |
| 7 | g.41966311A>T | CA367320398 | GLI3 | c.2762T>A (p.Leu921His) c.2588T>A (p.Leu863His) n.2739T>A c.2585T>A (p.Leu862His) c.2759T>A (p.Leu920His) | |
| 7 | g.41966317_41966325del | CA1702661234 | GLI3 | c.2754_2762del (p.Leu919_Leu921del) c.2580_2588del (p.Leu861_Leu863del) n.2731_2739del c.2577_2585del (p.Leu860_Leu862del) c.2751_2759del (p.Leu918_Leu920del) | dbSNP |
| 7 | g.41966312G>A | CA367320400 | GLI3 | c.2761C>T (p.Leu921Phe) c.2587C>T (p.Leu863Phe) n.2738C>T c.2584C>T (p.Leu862Phe) c.2758C>T (p.Leu920Phe) | |
| 7 | g.41966312G>C | CA367320401 | GLI3 | c.2761C>G (p.Leu921Val) c.2587C>G (p.Leu863Val) n.2738C>G c.2584C>G (p.Leu862Val) c.2758C>G (p.Leu920Val) | |
| 7 | g.41966312G>T | CA367320402 | GLI3 | c.2761C>A (p.Leu921Ile) c.2587C>A (p.Leu863Ile) n.2738C>A c.2584C>A (p.Leu862Ile) c.2758C>A (p.Leu920Ile) | |
| 7 | g.41966313G>A | CA454662466 | GLI3 | c.2760C>T (p.Ser920=) c.2586C>T (p.Ser862=) n.2737C>T c.2583C>T (p.Ser861=) c.2757C>T (p.Ser919=) | |
| 7 | g.41966313G>C | CA367320403 | GLI3 | c.2760C>G (p.Ser920Arg) c.2586C>G (p.Ser862Arg) n.2737C>G c.2583C>G (p.Ser861Arg) c.2757C>G (p.Ser919Arg) | |
| 7 | g.41966313G>T | CA367320404 | GLI3 | c.2760C>A (p.Ser920Arg) c.2586C>A (p.Ser862Arg) n.2737C>A c.2583C>A (p.Ser861Arg) c.2757C>A (p.Ser919Arg) | |
| 7 | g.41966314C>A | CA367320405 | GLI3 | c.2759G>T (p.Ser920Ile) c.2585G>T (p.Ser862Ile) n.2736G>T c.2582G>T (p.Ser861Ile) c.2756G>T (p.Ser919Ile) | |
| 7 | g.41966314C>G | CA367320406 | GLI3 | c.2759G>C (p.Ser920Thr) c.2585G>C (p.Ser862Thr) n.2736G>C c.2582G>C (p.Ser861Thr) c.2756G>C (p.Ser919Thr) | |
| 7 | g.41966314C>T | CA367320407 | GLI3 | c.2759G>A (p.Ser920Asn) c.2585G>A (p.Ser862Asn) n.2736G>A c.2582G>A (p.Ser861Asn) c.2756G>A (p.Ser919Asn) | gnomAD v4 |
| 7 | g.41966315T>A | CA367320408 | GLI3 | c.2758A>T (p.Ser920Cys) c.2584A>T (p.Ser862Cys) n.2735A>T c.2581A>T (p.Ser861Cys) c.2755A>T (p.Ser919Cys) | |
| 7 | g.41966315T>C | CA367320409 | GLI3 | c.2758A>G (p.Ser920Gly) c.2584A>G (p.Ser862Gly) n.2735A>G c.2581A>G (p.Ser861Gly) c.2755A>G (p.Ser919Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41966315T>G | CA367320410 | GLI3 | c.2758A>C (p.Ser920Arg) c.2584A>C (p.Ser862Arg) n.2735A>C c.2581A>C (p.Ser861Arg) c.2755A>C (p.Ser919Arg) | |
| 7 | g.41966315T= | CA1702661235 | GLI3 | c.2758A= (p.Ser920=) c.2584A= (p.Ser862=) n.2735A= c.2581A= (p.Ser861=) c.2755A= (p.Ser919=) | |
| 7 | g.41966316G>A | CA454662473 | GLI3 | c.2757C>T (p.Leu919=) c.2583C>T (p.Leu861=) n.2734C>T c.2580C>T (p.Leu860=) c.2754C>T (p.Leu918=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41966316G>C | CA454662475 | GLI3 | c.2757C>G (p.Leu919=) c.2583C>G (p.Leu861=) n.2734C>G c.2580C>G (p.Leu860=) c.2754C>G (p.Leu918=) | COSMIC |
| 7 | g.41966316G= | CA1702661236 | GLI3 | c.2757C= (p.Leu919=) c.2583C= (p.Leu861=) n.2734C= c.2580C= (p.Leu860=) c.2754C= (p.Leu918=) | |
| 7 | g.41966316G>T | CA454662471 | GLI3 | c.2757C>A (p.Leu919=) c.2583C>A (p.Leu861=) n.2734C>A c.2580C>A (p.Leu860=) c.2754C>A (p.Leu918=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41966317A>C | CA367320413 | GLI3 | c.2756T>G (p.Leu919Arg) c.2582T>G (p.Leu861Arg) n.2733T>G c.2579T>G (p.Leu860Arg) c.2753T>G (p.Leu918Arg) | |
| 7 | g.41966317A>G | CA367320412 | GLI3 | c.2756T>C (p.Leu919Pro) c.2582T>C (p.Leu861Pro) n.2733T>C c.2579T>C (p.Leu860Pro) c.2753T>C (p.Leu918Pro) | gnomAD v4 |
| 7 | g.41966317A>T | CA367320411 | GLI3 | c.2756T>A (p.Leu919His) c.2582T>A (p.Leu861His) n.2733T>A c.2579T>A (p.Leu860His) c.2753T>A (p.Leu918His) | |
| 7 | g.41966317_41966326delinsAGCAGGCTGG | CA1702661237 | GLI3 | c.2747_2756delinsCCAGCCTGCT (p.Pro916=) c.2573_2582delinsCCAGCCTGCT (p.Pro858=) n.2724_2733delinsCCAGCCTGCT c.2570_2579delinsCCAGCCTGCT (p.Pro857=) c.2744_2753delinsCCAGCCTGCT (p.Pro915=) | |
| 7 | g.41966318G>A | CA4230530 | GLI3 | c.2755C>T (p.Leu919Phe) c.2581C>T (p.Leu861Phe) n.2732C>T c.2578C>T (p.Leu860Phe) c.2752C>T (p.Leu918Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41966318G>C | CA367320414 | GLI3 | c.2755C>G (p.Leu919Val) c.2581C>G (p.Leu861Val) n.2732C>G c.2578C>G (p.Leu860Val) c.2752C>G (p.Leu918Val) | |
| 7 | g.41966318G= | CA1702661239 | GLI3 | c.2755C= (p.Leu919=) c.2581C= (p.Leu861=) n.2732C= c.2578C= (p.Leu860=) c.2752C= (p.Leu918=) | |
| 7 | g.41966318G>T | CA367320415 | GLI3 | c.2755C>A (p.Leu919Ile) c.2581C>A (p.Leu861Ile) n.2732C>A c.2578C>A (p.Leu860Ile) c.2752C>A (p.Leu918Ile) | |
| 7 | g.41966324_41966332del | CA1702661238 | GLI3 | c.2747_2755del (p.Pro916_Leu918del) c.2573_2581del (p.Pro858_Leu860del) n.2724_2732del c.2570_2578del (p.Pro857_Leu859del) c.2744_2752del (p.Pro915_Leu917del) | dbSNP |
| 7 | g.41966319C>A | CA4230531 | GLI3 | c.2754G>T (p.Leu918=) c.2580G>T (p.Leu860=) n.2731G>T c.2577G>T (p.Leu859=) c.2751G>T (p.Leu917=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41966319C= | CA1702661240 | GLI3 | c.2754G= (p.Leu918=) c.2580G= (p.Leu860=) n.2731G= c.2577G= (p.Leu859=) c.2751G= (p.Leu917=) | |
| 7 | g.41966319C>G | CA454662479 | GLI3 | c.2754G>C (p.Leu918=) c.2580G>C (p.Leu860=) n.2731G>C c.2577G>C (p.Leu859=) c.2751G>C (p.Leu917=) | |
| 7 | g.41966319C>T | CA454662480 | GLI3 | c.2754G>A (p.Leu918=) c.2580G>A (p.Leu860=) n.2731G>A c.2577G>A (p.Leu859=) c.2751G>A (p.Leu917=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41966320A>C | CA367320416 | GLI3 | c.2753T>G (p.Leu918Arg) c.2579T>G (p.Leu860Arg) n.2730T>G c.2576T>G (p.Leu859Arg) c.2750T>G (p.Leu917Arg) | |
| 7 | g.41966320A>G | CA367320417 | GLI3 | c.2753T>C (p.Leu918Pro) c.2579T>C (p.Leu860Pro) n.2730T>C c.2576T>C (p.Leu859Pro) c.2750T>C (p.Leu917Pro) | |
| 7 | g.41966320A>T | CA367320418 | GLI3 | c.2753T>A (p.Leu918Gln) c.2579T>A (p.Leu860Gln) n.2730T>A c.2576T>A (p.Leu859Gln) c.2750T>A (p.Leu917Gln) | |
| 7 | g.41966321G>A | CA454662408 | GLI3 | c.2752C>T (p.Leu918=) c.2578C>T (p.Leu860=) n.2729C>T c.2575C>T (p.Leu859=) c.2749C>T (p.Leu917=) | COSMIC |
| 7 | g.41966321G>C | CA367320420 | GLI3 | c.2752C>G (p.Leu918Val) c.2578C>G (p.Leu860Val) n.2729C>G c.2575C>G (p.Leu859Val) c.2749C>G (p.Leu917Val) | |
| 7 | g.41966321G>T | CA367320421 | GLI3 | c.2752C>A (p.Leu918Met) c.2578C>A (p.Leu860Met) n.2729C>A c.2575C>A (p.Leu859Met) c.2749C>A (p.Leu917Met) | gnomAD v4 |
| 7 | g.41966322G>A | CA454662410 | GLI3 | c.2751C>T (p.Ser917=) c.2577C>T (p.Ser859=) n.2728C>T c.2574C>T (p.Ser858=) c.2748C>T (p.Ser916=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41966322G>C | CA367320422 | GLI3 | c.2751C>G (p.Ser917Arg) c.2577C>G (p.Ser859Arg) n.2728C>G c.2574C>G (p.Ser858Arg) c.2748C>G (p.Ser916Arg) | gnomAD v4 |
| 7 | g.41966322G= | CA1702661241 | GLI3 | c.2751C= (p.Ser917=) c.2577C= (p.Ser859=) n.2728C= c.2574C= (p.Ser858=) c.2748C= (p.Ser916=) | |
| 7 | g.41966322G>T | CA367320423 | GLI3 | c.2751C>A (p.Ser917Arg) c.2577C>A (p.Ser859Arg) n.2728C>A c.2574C>A (p.Ser858Arg) c.2748C>A (p.Ser916Arg) | gnomAD v4 |
| 7 | g.41966323C>A | CA367320424 | GLI3 | c.2750G>T (p.Ser917Ile) c.2576G>T (p.Ser859Ile) n.2727G>T c.2573G>T (p.Ser858Ile) c.2747G>T (p.Ser916Ile) | |
| 7 | g.41966323C= | CA1702661242 | GLI3 | c.2750G= (p.Ser917=) c.2576G= (p.Ser859=) n.2727G= c.2573G= (p.Ser858=) c.2747G= (p.Ser916=) | |
| 7 | g.41966323C>G | CA367320425 | GLI3 | c.2750G>C (p.Ser917Thr) c.2576G>C (p.Ser859Thr) n.2727G>C c.2573G>C (p.Ser858Thr) c.2747G>C (p.Ser916Thr) | |
| 7 | g.41966323C>T | CA367320426 | GLI3 | c.2750G>A (p.Ser917Asn) c.2576G>A (p.Ser859Asn) n.2727G>A c.2573G>A (p.Ser858Asn) c.2747G>A (p.Ser916Asn) | dbSNP gnomAD v4 |
| 7 | g.41966324T>A | CA367320429 | GLI3 | c.2749A>T (p.Ser917Cys) c.2575A>T (p.Ser859Cys) n.2726A>T c.2572A>T (p.Ser858Cys) c.2746A>T (p.Ser916Cys) | |
| 7 | g.41966324T>C | CA367320427 | GLI3 | c.2749A>G (p.Ser917Gly) c.2575A>G (p.Ser859Gly) n.2726A>G c.2572A>G (p.Ser858Gly) c.2746A>G (p.Ser916Gly) | |
| 7 | g.41966324T>G | CA367320428 | GLI3 | c.2749A>C (p.Ser917Arg) c.2575A>C (p.Ser859Arg) n.2726A>C c.2572A>C (p.Ser858Arg) c.2746A>C (p.Ser916Arg) | gnomAD v4 |
| 7 | g.41966324T= | CA1702661243 | GLI3 | c.2749A= (p.Ser917=) c.2575A= (p.Ser859=) n.2726A= c.2572A= (p.Ser858=) c.2746A= (p.Ser916=) | |
| 7 | g.41966325G>A | CA454662427 | GLI3 | c.2748C>T (p.Pro916=) c.2574C>T (p.Pro858=) n.2725C>T c.2571C>T (p.Pro857=) c.2745C>T (p.Pro915=) | |
| 7 | g.41966325G>C | CA454662428 | GLI3 | c.2748C>G (p.Pro916=) c.2574C>G (p.Pro858=) n.2725C>G c.2571C>G (p.Pro857=) c.2745C>G (p.Pro915=) | |
| 7 | g.41966325G>T | CA454662429 | GLI3 | c.2748C>A (p.Pro916=) c.2574C>A (p.Pro858=) n.2725C>A c.2571C>A (p.Pro857=) c.2745C>A (p.Pro915=) | |
| 7 | g.41966326_41966334dup | CA4230532 | GLI3 | c.2740_2748dup (p.Pro916_Ser917insGlyLeuPro) c.2566_2574dup (p.Pro858_Ser859insGlyLeuPro) n.2717_2725dup c.2563_2571dup (p.Pro857_Ser858insGlyLeuPro) c.2737_2745dup (p.Pro915_Ser916insGlyLeuPro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41966326G>A | CA367320430 | GLI3 | c.2747C>T (p.Pro916Leu) c.2573C>T (p.Pro858Leu) n.2724C>T c.2570C>T (p.Pro857Leu) c.2744C>T (p.Pro915Leu) | dbSNP gnomAD v2 |
| 7 | g.41966326G>C | CA4230533 | GLI3 | c.2747C>G (p.Pro916Arg) c.2573C>G (p.Pro858Arg) n.2724C>G c.2570C>G (p.Pro857Arg) c.2744C>G (p.Pro915Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41966326G= | CA1702661244 | GLI3 | c.2747C= (p.Pro916=) c.2573C= (p.Pro858=) n.2724C= c.2570C= (p.Pro857=) c.2744C= (p.Pro915=) | |
| 7 | g.41966326G>T | CA367320431 | GLI3 | c.2747C>A (p.Pro916His) c.2573C>A (p.Pro858His) n.2724C>A c.2570C>A (p.Pro857His) c.2744C>A (p.Pro915His) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41966327G>A | CA367320432 | GLI3 | c.2746C>T (p.Pro916Ser) c.2572C>T (p.Pro858Ser) n.2723C>T c.2569C>T (p.Pro857Ser) c.2743C>T (p.Pro915Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41966327G>C | CA367320433 | GLI3 | c.2746C>G (p.Pro916Ala) c.2572C>G (p.Pro858Ala) n.2723C>G c.2569C>G (p.Pro857Ala) c.2743C>G (p.Pro915Ala) | |
| 7 | g.41966327G= | CA1702661245 | GLI3 | c.2746C= (p.Pro916=) c.2572C= (p.Pro858=) n.2723C= c.2569C= (p.Pro857=) c.2743C= (p.Pro915=) | |
| 7 | g.41966327G>T | CA367320434 | GLI3 | c.2746C>A (p.Pro916Thr) c.2572C>A (p.Pro858Thr) n.2723C>A c.2569C>A (p.Pro857Thr) c.2743C>A (p.Pro915Thr) | gnomAD v4 |
| 7 | g.41966328C>A | CA454662440 | GLI3 | c.2745G>T (p.Leu915=) c.2571G>T (p.Leu857=) n.2722G>T c.2568G>T (p.Leu856=) c.2742G>T (p.Leu914=) | |
| 7 | g.41966328C= | CA1702661246 | GLI3 | c.2745G= (p.Leu915=) c.2571G= (p.Leu857=) n.2722G= c.2568G= (p.Leu856=) c.2742G= (p.Leu914=) | |
| 7 | g.41966328C>G | CA454662443 | GLI3 | c.2745G>C (p.Leu915=) c.2571G>C (p.Leu857=) n.2722G>C c.2568G>C (p.Leu856=) c.2742G>C (p.Leu914=) | dbSNP |
| 7 | g.41966328C>T | CA454662441 | GLI3 | c.2745G>A (p.Leu915=) c.2571G>A (p.Leu857=) n.2722G>A c.2568G>A (p.Leu856=) c.2742G>A (p.Leu914=) | ClinVar dbSNP |
| 7 | g.41966329A>C | CA367320435 | GLI3 | c.2744T>G (p.Leu915Arg) c.2570T>G (p.Leu857Arg) n.2721T>G c.2567T>G (p.Leu856Arg) c.2741T>G (p.Leu914Arg) | |
| 7 | g.41966329A>G | CA367320436 | GLI3 | c.2744T>C (p.Leu915Pro) c.2570T>C (p.Leu857Pro) n.2721T>C c.2567T>C (p.Leu856Pro) c.2741T>C (p.Leu914Pro) | |
| 7 | g.41966329A>T | CA367320437 | GLI3 | c.2744T>A (p.Leu915Gln) c.2570T>A (p.Leu857Gln) n.2721T>A c.2567T>A (p.Leu856Gln) c.2741T>A (p.Leu914Gln) | |
| 7 | g.41966330G>A | CA156907435 | GLI3 | c.2743C>T (p.Leu915=) c.2569C>T (p.Leu857=) n.2720C>T c.2566C>T (p.Leu856=) c.2740C>T (p.Leu914=) | dbSNP |
| 7 | g.41966330G>C | CA367320438 | GLI3 | c.2743C>G (p.Leu915Val) c.2569C>G (p.Leu857Val) n.2720C>G c.2566C>G (p.Leu856Val) c.2740C>G (p.Leu914Val) | |
| 7 | g.41966330G= | CA1702661247 | GLI3 | c.2743C= (p.Leu915=) c.2569C= (p.Leu857=) n.2720C= c.2566C= (p.Leu856=) c.2740C= (p.Leu914=) | |
| 7 | g.41966330G>T | CA367320439 | GLI3 | c.2743C>A (p.Leu915Met) c.2569C>A (p.Leu857Met) n.2720C>A c.2566C>A (p.Leu856Met) c.2740C>A (p.Leu914Met) | COSMIC |
| 7 | g.41966331G>A | CA454662449 | GLI3 | c.2742C>T (p.Gly914=) c.2568C>T (p.Gly856=) n.2719C>T c.2565C>T (p.Gly855=) c.2739C>T (p.Gly913=) | |
| 7 | g.41966331G>C | CA454662456 | GLI3 | c.2742C>G (p.Gly914=) c.2568C>G (p.Gly856=) n.2719C>G c.2565C>G (p.Gly855=) c.2739C>G (p.Gly913=) | |
| 7 | g.41966331G>T | CA454662462 | GLI3 | c.2742C>A (p.Gly914=) c.2568C>A (p.Gly856=) n.2719C>A c.2565C>A (p.Gly855=) c.2739C>A (p.Gly913=) | gnomAD v4 COSMIC |
| 7 | g.41966331_41966332delinsGC | CA1702661248 | GLI3 | c.2741_2742delinsGC (p.Gly914=) c.2567_2568delinsGC (p.Gly856=) n.2718_2719delinsGC c.2564_2565delinsGC (p.Gly855=) c.2738_2739delinsGC (p.Gly913=) | |
| 7 | g.41966332C>A | CA367320440 | GLI3 | c.2741G>T (p.Gly914Val) c.2567G>T (p.Gly856Val) n.2718G>T c.2564G>T (p.Gly855Val) c.2738G>T (p.Gly913Val) | |
| 7 | g.41966332C>G | CA367320441 | GLI3 | c.2741G>C (p.Gly914Ala) c.2567G>C (p.Gly856Ala) n.2718G>C c.2564G>C (p.Gly855Ala) c.2738G>C (p.Gly913Ala) | |
| 7 | g.41966332C>T | CA367320442 | GLI3 | c.2741G>A (p.Gly914Asp) c.2567G>A (p.Gly856Asp) n.2718G>A c.2564G>A (p.Gly855Asp) c.2738G>A (p.Gly913Asp) | gnomAD v4 |
| 7 | g.41966333del | CA10629102 | GLI3 | c.2741del (p.Gly914AlafsTer?) c.2567del (p.Gly856AlafsTer?) n.2718del c.2564del (p.Gly855AlafsTer?) c.2738del (p.Gly913AlafsTer?) | ClinVar dbSNP |
| 7 | g.41966333C>A | CA367320444 | GLI3 | c.2740G>T (p.Gly914Cys) c.2566G>T (p.Gly856Cys) n.2717G>T c.2563G>T (p.Gly855Cys) c.2737G>T (p.Gly913Cys) | |
| 7 | g.41966333C= | CA1702661249 | GLI3 | c.2740G= (p.Gly914=) c.2566G= (p.Gly856=) n.2717G= c.2563G= (p.Gly855=) c.2737G= (p.Gly913=) | |
| 7 | g.41966333C>G | CA367320443 | GLI3 | c.2740G>C (p.Gly914Arg) c.2566G>C (p.Gly856Arg) n.2717G>C c.2563G>C (p.Gly855Arg) c.2737G>C (p.Gly913Arg) | ClinVar dbSNP gnomAD v4 |
| 7 | g.41966333C>T | CA4230534 | GLI3 | c.2740G>A (p.Gly914Ser) c.2566G>A (p.Gly856Ser) n.2717G>A c.2563G>A (p.Gly855Ser) c.2737G>A (p.Gly913Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41966334G>A | CA4230535 | GLI3 | c.2739C>T (p.Asp913=) c.2565C>T (p.Asp855=) n.2716C>T c.2562C>T (p.Asp854=) c.2736C>T (p.Asp912=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41966334G>C | CA367320446 | GLI3 | c.2739C>G (p.Asp913Glu) c.2565C>G (p.Asp855Glu) n.2716C>G c.2562C>G (p.Asp854Glu) c.2736C>G (p.Asp912Glu) | |
| 7 | g.41966334G= | CA1702661250 | GLI3 | c.2739C= (p.Asp913=) c.2565C= (p.Asp855=) n.2716C= c.2562C= (p.Asp854=) c.2736C= (p.Asp912=) | |
| 7 | g.41966334G>T | CA367320445 | GLI3 | c.2739C>A (p.Asp913Glu) c.2565C>A (p.Asp855Glu) n.2716C>A c.2562C>A (p.Asp854Glu) c.2736C>A (p.Asp912Glu) | gnomAD v4 |
| 7 | g.41966335T>A | CA367320447 | GLI3 | c.2738A>T (p.Asp913Val) c.2564A>T (p.Asp855Val) n.2715A>T c.2561A>T (p.Asp854Val) c.2735A>T (p.Asp912Val) | |
| 7 | g.41966335T>C | CA367320449 | GLI3 | c.2738A>G (p.Asp913Gly) c.2564A>G (p.Asp855Gly) n.2715A>G c.2561A>G (p.Asp854Gly) c.2735A>G (p.Asp912Gly) | |
| 7 | g.41966335T>G | CA367320448 | GLI3 | c.2738A>C (p.Asp913Ala) c.2564A>C (p.Asp855Ala) n.2715A>C c.2561A>C (p.Asp854Ala) c.2735A>C (p.Asp912Ala) | |
| 7 | g.41966336C>A | CA367320450 | GLI3 | c.2737G>T (p.Asp913Tyr) c.2563G>T (p.Asp855Tyr) n.2714G>T c.2560G>T (p.Asp854Tyr) c.2734G>T (p.Asp912Tyr) | |
| 7 | g.41966336C= | CA1702661251 | GLI3 | c.2737G= (p.Asp913=) c.2563G= (p.Asp855=) n.2714G= c.2560G= (p.Asp854=) c.2734G= (p.Asp912=) | |
| 7 | g.41966336C>G | CA367320451 | GLI3 | c.2737G>C (p.Asp913His) c.2563G>C (p.Asp855His) n.2714G>C c.2560G>C (p.Asp854His) c.2734G>C (p.Asp912His) | |
| 7 | g.41966336C>T | CA367320452 | GLI3 | c.2737G>A (p.Asp913Asn) c.2563G>A (p.Asp855Asn) n.2714G>A c.2560G>A (p.Asp854Asn) c.2734G>A (p.Asp912Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41966337G>A | CA4230536 | GLI3 | c.2736C>T (p.Ser912=) c.2562C>T (p.Ser854=) n.2713C>T c.2559C>T (p.Ser853=) c.2733C>T (p.Ser911=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41966337G>C | CA367320453 | GLI3 | c.2736C>G (p.Ser912Arg) c.2562C>G (p.Ser854Arg) n.2713C>G c.2559C>G (p.Ser853Arg) c.2733C>G (p.Ser911Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41966337G= | CA1702661252 | GLI3 | c.2736C= (p.Ser912=) c.2562C= (p.Ser854=) n.2713C= c.2559C= (p.Ser853=) c.2733C= (p.Ser911=) | |
| 7 | g.41966337G>T | CA367320454 | GLI3 | c.2736C>A (p.Ser912Arg) c.2562C>A (p.Ser854Arg) n.2713C>A c.2559C>A (p.Ser853Arg) c.2733C>A (p.Ser911Arg) | gnomAD v4 |
| 7 | g.41966338C>A | CA367320455 | GLI3 | c.2735G>T (p.Ser912Ile) c.2561G>T (p.Ser854Ile) n.2712G>T c.2558G>T (p.Ser853Ile) c.2732G>T (p.Ser911Ile) | |
| 7 | g.41966338C= | CA1702661253 | GLI3 | c.2735G= (p.Ser912=) c.2561G= (p.Ser854=) n.2712G= c.2558G= (p.Ser853=) c.2732G= (p.Ser911=) | |
| 7 | g.41966338C>G | CA367320456 | GLI3 | c.2735G>C (p.Ser912Thr) c.2561G>C (p.Ser854Thr) n.2712G>C c.2558G>C (p.Ser853Thr) c.2732G>C (p.Ser911Thr) | |
| 7 | g.41966338C>T | CA4230537 | GLI3 | c.2735G>A (p.Ser912Asn) c.2561G>A (p.Ser854Asn) n.2712G>A c.2558G>A (p.Ser853Asn) c.2732G>A (p.Ser911Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41966339T>A | CA367320457 | GLI3 | c.2734A>T (p.Ser912Cys) c.2560A>T (p.Ser854Cys) n.2711A>T c.2557A>T (p.Ser853Cys) c.2731A>T (p.Ser911Cys) | |
| 7 | g.41966339T>C | CA367320458 | GLI3 | c.2734A>G (p.Ser912Gly) c.2560A>G (p.Ser854Gly) n.2711A>G c.2557A>G (p.Ser853Gly) c.2731A>G (p.Ser911Gly) | gnomAD v4 |
| 7 | g.41966339T>G | CA367320459 | GLI3 | c.2734A>C (p.Ser912Arg) c.2560A>C (p.Ser854Arg) n.2711A>C c.2557A>C (p.Ser853Arg) c.2731A>C (p.Ser911Arg) | |
| 7 | g.41966340C>A | CA367320460 | GLI3 | c.2733G>T (p.Gln911His) c.2559G>T (p.Gln853His) n.2710G>T c.2556G>T (p.Gln852His) c.2730G>T (p.Gln910His) | |
| 7 | g.41966340C= | CA1702661254 | GLI3 | c.2733G= (p.Gln911=) c.2559G= (p.Gln853=) n.2710G= c.2556G= (p.Gln852=) c.2730G= (p.Gln910=) | |
| 7 | g.41966340C>G | CA4230538 | GLI3 | c.2733G>C (p.Gln911His) c.2559G>C (p.Gln853His) n.2710G>C c.2556G>C (p.Gln852His) c.2730G>C (p.Gln910His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41966340C>T | CA454662486 | GLI3 | c.2733G>A (p.Gln911=) c.2559G>A (p.Gln853=) n.2710G>A c.2556G>A (p.Gln852=) c.2730G>A (p.Gln910=) | |
| 7 | g.41966341T>A | CA367320461 | GLI3 | c.2732A>T (p.Gln911Leu) c.2558A>T (p.Gln853Leu) n.2709A>T c.2555A>T (p.Gln852Leu) c.2729A>T (p.Gln910Leu) | |
| 7 | g.41966341T>C | CA367320462 | GLI3 | c.2732A>G (p.Gln911Arg) c.2558A>G (p.Gln853Arg) n.2709A>G c.2555A>G (p.Gln852Arg) c.2729A>G (p.Gln910Arg) | gnomAD v4 |
| 7 | g.41966341T>G | CA367320463 | GLI3 | c.2732A>C (p.Gln911Pro) c.2558A>C (p.Gln853Pro) n.2709A>C c.2555A>C (p.Gln852Pro) c.2729A>C (p.Gln910Pro) | |
| 7 | g.41966342G>A | CA367320464 | GLI3 | c.2731C>T (p.Gln911Ter) c.2557C>T (p.Gln853Ter) n.2708C>T c.2554C>T (p.Gln852Ter) c.2728C>T (p.Gln910Ter) | |
| 7 | g.41966342G>C | CA367320465 | GLI3 | c.2731C>G (p.Gln911Glu) c.2557C>G (p.Gln853Glu) n.2708C>G c.2554C>G (p.Gln852Glu) c.2728C>G (p.Gln910Glu) | |
| 7 | g.41966342G>T | CA367320466 | GLI3 | c.2731C>A (p.Gln911Lys) c.2557C>A (p.Gln853Lys) n.2708C>A c.2554C>A (p.Gln852Lys) c.2728C>A (p.Gln910Lys) | |
| 7 | g.41966343G>A | CA454662492 | GLI3 | c.2730C>T (p.Ser910=) c.2556C>T (p.Ser852=) n.2707C>T c.2553C>T (p.Ser851=) c.2727C>T (p.Ser909=) | gnomAD v4 |
| 7 | g.41966343G>C | CA367320467 | GLI3 | c.2730C>G (p.Ser910Arg) c.2556C>G (p.Ser852Arg) n.2707C>G c.2553C>G (p.Ser851Arg) c.2727C>G (p.Ser909Arg) | |
| 7 | g.41966343G>T | CA367320468 | GLI3 | c.2730C>A (p.Ser910Arg) c.2556C>A (p.Ser852Arg) n.2707C>A c.2553C>A (p.Ser851Arg) c.2727C>A (p.Ser909Arg) | gnomAD v4 |
| 7 | g.41966344C>A | CA367320469 | GLI3 | c.2729G>T (p.Ser910Ile) c.2555G>T (p.Ser852Ile) n.2706G>T c.2552G>T (p.Ser851Ile) c.2726G>T (p.Ser909Ile) | |
| 7 | g.41966344C= | CA1702661255 | GLI3 | c.2729G= (p.Ser910=) c.2555G= (p.Ser852=) n.2706G= c.2552G= (p.Ser851=) c.2726G= (p.Ser909=) | |
| 7 | g.41966344C>G | CA367320470 | GLI3 | c.2729G>C (p.Ser910Thr) c.2555G>C (p.Ser852Thr) n.2706G>C c.2552G>C (p.Ser851Thr) c.2726G>C (p.Ser909Thr) | |
| 7 | g.41966344C>T | CA4230539 | GLI3 | c.2729G>A (p.Ser910Asn) c.2555G>A (p.Ser852Asn) n.2706G>A c.2552G>A (p.Ser851Asn) c.2726G>A (p.Ser909Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41966345T>A | CA367320472 | GLI3 | c.2728A>T (p.Ser910Cys) c.2554A>T (p.Ser852Cys) n.2705A>T c.2551A>T (p.Ser851Cys) c.2725A>T (p.Ser909Cys) | |
| 7 | g.41966345T>C | CA4230540 | GLI3 | c.2728A>G (p.Ser910Gly) c.2554A>G (p.Ser852Gly) n.2705A>G c.2551A>G (p.Ser851Gly) c.2725A>G (p.Ser909Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41966345T>G | CA367320471 | GLI3 | c.2728A>C (p.Ser910Arg) c.2554A>C (p.Ser852Arg) n.2705A>C c.2551A>C (p.Ser851Arg) c.2725A>C (p.Ser909Arg) | |
| 7 | g.41966345T= | CA1702661256 | GLI3 | c.2728A= (p.Ser910=) c.2554A= (p.Ser852=) n.2705A= c.2551A= (p.Ser851=) c.2725A= (p.Ser909=) | |
| 7 | g.41966346G>A | CA454662500 | GLI3 | c.2727C>T (p.Ala909=) c.2553C>T (p.Ala851=) n.2704C>T c.2550C>T (p.Ala850=) c.2724C>T (p.Ala908=) | |
| 7 | g.41966346G>C | CA454662501 | GLI3 | c.2727C>G (p.Ala909=) c.2553C>G (p.Ala851=) n.2704C>G c.2550C>G (p.Ala850=) c.2724C>G (p.Ala908=) | |
| 7 | g.41966346G= | CA1702661257 | GLI3 | c.2727C= (p.Ala909=) c.2553C= (p.Ala851=) n.2704C= c.2550C= (p.Ala850=) c.2724C= (p.Ala908=) | |
| 7 | g.41966346G>T | CA454662502 | GLI3 | c.2727C>A (p.Ala909=) c.2553C>A (p.Ala851=) n.2704C>A c.2550C>A (p.Ala850=) c.2724C>A (p.Ala908=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41966347G>A | CA367320473 | GLI3 | c.2726C>T (p.Ala909Val) c.2552C>T (p.Ala851Val) n.2703C>T c.2549C>T (p.Ala850Val) c.2723C>T (p.Ala908Val) | |
| 7 | g.41966347G>C | CA4230541 | GLI3 | c.2726C>G (p.Ala909Gly) c.2552C>G (p.Ala851Gly) n.2703C>G c.2549C>G (p.Ala850Gly) c.2723C>G (p.Ala908Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41966347G= | CA1702661258 | GLI3 | c.2726C= (p.Ala909=) c.2552C= (p.Ala851=) n.2703C= c.2549C= (p.Ala850=) c.2723C= (p.Ala908=) | |
| 7 | g.41966347G>T | CA367320474 | GLI3 | c.2726C>A (p.Ala909Asp) c.2552C>A (p.Ala851Asp) n.2703C>A c.2549C>A (p.Ala850Asp) c.2723C>A (p.Ala908Asp) | gnomAD v4 |
| 7 | g.41966348C>A | CA367320475 | GLI3 | c.2725G>T (p.Ala909Ser) c.2551G>T (p.Ala851Ser) n.2702G>T c.2548G>T (p.Ala850Ser) c.2722G>T (p.Ala908Ser) | |
| 7 | g.41966348C>G | CA367320476 | GLI3 | c.2725G>C (p.Ala909Pro) c.2551G>C (p.Ala851Pro) n.2702G>C c.2548G>C (p.Ala850Pro) c.2722G>C (p.Ala908Pro) | |
| 7 | g.41966348C>T | CA367320477 | GLI3 | c.2725G>A (p.Ala909Thr) c.2551G>A (p.Ala851Thr) n.2702G>A c.2548G>A (p.Ala850Thr) c.2722G>A (p.Ala908Thr) | gnomAD v4 |
| 7 | g.41966349T>A | CA367320478 | GLI3 | c.2724A>T (p.Glu908Asp) c.2550A>T (p.Glu850Asp) n.2701A>T c.2547A>T (p.Glu849Asp) c.2721A>T (p.Glu907Asp) | |
| 7 | g.41966349T>C | CA454662512 | GLI3 | c.2724A>G (p.Glu908=) c.2550A>G (p.Glu850=) n.2701A>G c.2547A>G (p.Glu849=) c.2721A>G (p.Glu907=) | |
| 7 | g.41966349T>G | CA367320479 | GLI3 | c.2724A>C (p.Glu908Asp) c.2550A>C (p.Glu850Asp) n.2701A>C c.2547A>C (p.Glu849Asp) c.2721A>C (p.Glu907Asp) | |
| 7 | g.41966350T>A | CA367320480 | GLI3 | c.2723A>T (p.Glu908Val) c.2549A>T (p.Glu850Val) n.2700A>T c.2546A>T (p.Glu849Val) c.2720A>T (p.Glu907Val) | |
| 7 | g.41966350T>C | CA367320481 | GLI3 | c.2723A>G (p.Glu908Gly) c.2549A>G (p.Glu850Gly) n.2700A>G c.2546A>G (p.Glu849Gly) c.2720A>G (p.Glu907Gly) | |
| 7 | g.41966350T>G | CA367320482 | GLI3 | c.2723A>C (p.Glu908Ala) c.2549A>C (p.Glu850Ala) n.2700A>C c.2546A>C (p.Glu849Ala) c.2720A>C (p.Glu907Ala) | |
| 7 | g.41966351C>A | CA367320484 | GLI3 | c.2722G>T (p.Glu908Ter) c.2548G>T (p.Glu850Ter) n.2699G>T c.2545G>T (p.Glu849Ter) c.2719G>T (p.Glu907Ter) | |
| 7 | g.41966351C= | CA1702661259 | GLI3 | c.2722G= (p.Glu908=) c.2548G= (p.Glu850=) n.2699G= c.2545G= (p.Glu849=) c.2719G= (p.Glu907=) | |
| 7 | g.41966351C>G | CA156907495 | GLI3 | c.2722G>C (p.Glu908Gln) c.2548G>C (p.Glu850Gln) n.2699G>C c.2545G>C (p.Glu849Gln) c.2719G>C (p.Glu907Gln) | dbSNP |
| 7 | g.41966351C>T | CA367320483 | GLI3 | c.2722G>A (p.Glu908Lys) c.2548G>A (p.Glu850Lys) n.2699G>A c.2545G>A (p.Glu849Lys) c.2719G>A (p.Glu907Lys) | |
| 7 | g.41966352G>A | CA4230542 | GLI3 | c.2721C>T (p.Ser907=) c.2547C>T (p.Ser849=) n.2698C>T c.2544C>T (p.Ser848=) c.2718C>T (p.Ser906=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.41966352G>C | CA367320485 | GLI3 | c.2721C>G (p.Ser907Arg) c.2547C>G (p.Ser849Arg) n.2698C>G c.2544C>G (p.Ser848Arg) c.2718C>G (p.Ser906Arg) | |
| 7 | g.41966352G= | CA1702661260 | GLI3 | c.2721C= (p.Ser907=) c.2547C= (p.Ser849=) n.2698C= c.2544C= (p.Ser848=) c.2718C= (p.Ser906=) | |
| 7 | g.41966352G>T | CA367320486 | GLI3 | c.2721C>A (p.Ser907Arg) c.2547C>A (p.Ser849Arg) n.2698C>A c.2544C>A (p.Ser848Arg) c.2718C>A (p.Ser906Arg) | |
| 7 | g.41966352_41966353delinsGC | CA1702661261 | GLI3 | c.2720_2721delinsGC (p.Ser907=) c.2546_2547delinsGC (p.Ser849=) n.2697_2698delinsGC c.2543_2544delinsGC (p.Ser848=) c.2717_2718delinsGC (p.Ser906=) | |
| 7 | g.41966353del | CA1139660048 | GLI3 | c.2720del (p.Ser907ThrfsTer?) c.2546del (p.Ser849ThrfsTer?) n.2697del c.2543del (p.Ser848ThrfsTer?) c.2717del (p.Ser906ThrfsTer?) | ClinVar dbSNP |
| 7 | g.41966353C>A | CA367320487 | GLI3 | c.2720G>T (p.Ser907Ile) c.2546G>T (p.Ser849Ile) n.2697G>T c.2543G>T (p.Ser848Ile) c.2717G>T (p.Ser906Ile) | |
| 7 | g.41966353C>G | CA367320488 | GLI3 | c.2720G>C (p.Ser907Thr) c.2546G>C (p.Ser849Thr) n.2697G>C c.2543G>C (p.Ser848Thr) c.2717G>C (p.Ser906Thr) | |
| 7 | g.41966353C>T | CA367320489 | GLI3 | c.2720G>A (p.Ser907Asn) c.2546G>A (p.Ser849Asn) n.2697G>A c.2543G>A (p.Ser848Asn) c.2717G>A (p.Ser906Asn) | |
| 7 | g.41966354T>A | CA367320490 | GLI3 | c.2719A>T (p.Ser907Cys) c.2545A>T (p.Ser849Cys) n.2696A>T c.2542A>T (p.Ser848Cys) c.2716A>T (p.Ser906Cys) | ClinVar |
| 7 | g.41966354T>C | CA367320491 | GLI3 | c.2719A>G (p.Ser907Gly) c.2545A>G (p.Ser849Gly) n.2696A>G c.2542A>G (p.Ser848Gly) c.2716A>G (p.Ser906Gly) | |
| 7 | g.41966354T>G | CA367320492 | GLI3 | c.2719A>C (p.Ser907Arg) c.2545A>C (p.Ser849Arg) n.2696A>C c.2542A>C (p.Ser848Arg) c.2716A>C (p.Ser906Arg) | |
| 7 | g.41966355G>A | CA454662520 | GLI3 | c.2718C>T (p.Ser906=) c.2544C>T (p.Ser848=) n.2695C>T c.2541C>T (p.Ser847=) c.2715C>T (p.Ser905=) | gnomAD v4 |
| 7 | g.41966355G>C | CA454662523 | GLI3 | c.2718C>G (p.Ser906=) c.2544C>G (p.Ser848=) n.2695C>G c.2541C>G (p.Ser847=) c.2715C>G (p.Ser905=) | |
| 7 | g.41966355G>T | CA454662524 | GLI3 | c.2718C>A (p.Ser906=) c.2544C>A (p.Ser848=) n.2695C>A c.2541C>A (p.Ser847=) c.2715C>A (p.Ser905=) | gnomAD v4 |