| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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) |