| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.42040098T>A | CA367329454 | GLI3 | c.968A>T (p.Asn323Ile) c.791A>T (p.Asn264Ile) n.945A>T c.965A>T (p.Asn322Ile) | |
| 7 | g.42040098T>C | CA367329456 | GLI3 | c.968A>G (p.Asn323Ser) c.791A>G (p.Asn264Ser) n.945A>G c.965A>G (p.Asn322Ser) | |
| 7 | g.42040098T>G | CA367329458 | GLI3 | c.968A>C (p.Asn323Thr) c.791A>C (p.Asn264Thr) n.945A>C c.965A>C (p.Asn322Thr) | |
| 7 | g.42040099T>A | CA367329464 | GLI3 | c.967A>T (p.Asn323Tyr) c.790A>T (p.Asn264Tyr) n.944A>T c.964A>T (p.Asn322Tyr) | |
| 7 | g.42040099T>C | CA367329467 | GLI3 | c.967A>G (p.Asn323Asp) c.790A>G (p.Asn264Asp) n.944A>G c.964A>G (p.Asn322Asp) | |
| 7 | g.42040099T>G | CA367329462 | GLI3 | c.967A>C (p.Asn323His) c.790A>C (p.Asn264His) n.944A>C c.964A>C (p.Asn322His) | |
| 7 | g.42040100A>C | CA367329472 | GLI3 | c.966T>G (p.Asn322Lys) c.789T>G (p.Asn263Lys) n.943T>G c.963T>G (p.Asn321Lys) | |
| 7 | g.42040100A>G | CA454533401 | GLI3 | c.966T>C (p.Asn322=) c.789T>C (p.Asn263=) n.943T>C c.963T>C (p.Asn321=) | |
| 7 | g.42040100A>T | CA367329470 | GLI3 | c.966T>A (p.Asn322Lys) c.789T>A (p.Asn263Lys) n.943T>A c.963T>A (p.Asn321Lys) | |
| 7 | g.42040101T>A | CA367329475 | GLI3 | c.965A>T (p.Asn322Ile) c.788A>T (p.Asn263Ile) n.942A>T c.962A>T (p.Asn321Ile) | |
| 7 | g.42040101T>C | CA4231008 | GLI3 | c.965A>G (p.Asn322Ser) c.788A>G (p.Asn263Ser) n.942A>G c.962A>G (p.Asn321Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.42040101T>G | CA367329479 | GLI3 | c.965A>C (p.Asn322Thr) c.788A>C (p.Asn263Thr) n.942A>C c.962A>C (p.Asn321Thr) | |
| 7 | g.42040101T= | CA1702691134 | GLI3 | c.965A= (p.Asn322=) c.788A= (p.Asn263=) n.942A= c.962A= (p.Asn321=) | |
| 7 | g.42040102T>A | CA367329481 | GLI3 | c.964A>T (p.Asn322Tyr) c.787A>T (p.Asn263Tyr) n.941A>T c.961A>T (p.Asn321Tyr) | gnomAD v4 |
| 7 | g.42040102T>C | CA367329485 | GLI3 | c.964A>G (p.Asn322Asp) c.787A>G (p.Asn263Asp) n.941A>G c.961A>G (p.Asn321Asp) | |
| 7 | g.42040102T>G | CA367329488 | GLI3 | c.964A>C (p.Asn322His) c.787A>C (p.Asn263His) n.941A>C c.961A>C (p.Asn321His) | dbSNP gnomAD v4 |
| 7 | g.42040102T= | CA1702691138 | GLI3 | c.964A= (p.Asn322=) c.787A= (p.Asn263=) n.941A= c.961A= (p.Asn321=) | |
| 7 | g.42040103G>A | CA4231009 | GLI3 | c.963C>T (p.Leu321=) c.786C>T (p.Leu262=) n.940C>T c.960C>T (p.Leu320=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.42040103G>C | CA454533413 | GLI3 | c.963C>G (p.Leu321=) c.786C>G (p.Leu262=) n.940C>G c.960C>G (p.Leu320=) | |
| 7 | g.42040103G= | CA1702691146 | GLI3 | c.963C= (p.Leu321=) c.786C= (p.Leu262=) n.940C= c.960C= (p.Leu320=) | |
| 7 | g.42040103G>T | CA454533415 | GLI3 | c.963C>A (p.Leu321=) c.786C>A (p.Leu262=) n.940C>A c.960C>A (p.Leu320=) | |
| 7 | g.42040104A>C | CA367329493 | GLI3 | c.962T>G (p.Leu321Arg) c.785T>G (p.Leu262Arg) n.939T>G c.959T>G (p.Leu320Arg) | |
| 7 | g.42040104A>G | CA367329498 | GLI3 | c.962T>C (p.Leu321Pro) c.785T>C (p.Leu262Pro) n.939T>C c.959T>C (p.Leu320Pro) | |
| 7 | g.42040104A>T | CA367329495 | GLI3 | c.962T>A (p.Leu321His) c.785T>A (p.Leu262His) n.939T>A c.959T>A (p.Leu320His) | |
| 7 | g.42040105G>A | CA4231010 | GLI3 | c.961C>T (p.Leu321Phe) c.784C>T (p.Leu262Phe) n.938C>T c.958C>T (p.Leu320Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.42040105G>C | CA367329502 | GLI3 | c.961C>G (p.Leu321Val) c.784C>G (p.Leu262Val) n.938C>G c.958C>G (p.Leu320Val) | gnomAD v4 |
| 7 | g.42040105G= | CA1702691156 | GLI3 | c.961C= (p.Leu321=) c.784C= (p.Leu262=) n.938C= c.958C= (p.Leu320=) | |
| 7 | g.42040105G>T | CA367329503 | GLI3 | c.961C>A (p.Leu321Ile) c.784C>A (p.Leu262Ile) n.938C>A c.958C>A (p.Leu320Ile) | |
| 7 | g.42040106A>C | CA367329507 | GLI3 | c.960T>G (p.Ile320Met) c.783T>G (p.Ile261Met) n.937T>G c.957T>G (p.Ile319Met) | |
| 7 | g.42040106A>G | CA454533424 | GLI3 | c.960T>C (p.Ile320=) c.783T>C (p.Ile261=) n.937T>C c.957T>C (p.Ile319=) | |
| 7 | g.42040106A>T | CA454533427 | GLI3 | c.960T>A (p.Ile320=) c.783T>A (p.Ile261=) n.937T>A c.957T>A (p.Ile319=) | |
| 7 | g.42040107A= | CA1702691159 | GLI3 | c.959T= (p.Ile320=) c.782T= (p.Ile261=) n.936T= c.956T= (p.Ile319=) | |
| 7 | g.42040107A>C | CA367329511 | GLI3 | c.959T>G (p.Ile320Ser) c.782T>G (p.Ile261Ser) n.936T>G c.956T>G (p.Ile319Ser) | |
| 7 | g.42040107A>G | CA367329515 | GLI3 | c.959T>C (p.Ile320Thr) c.782T>C (p.Ile261Thr) n.936T>C c.956T>C (p.Ile319Thr) | dbSNP |
| 7 | g.42040107A>T | CA367329513 | GLI3 | c.959T>A (p.Ile320Asn) c.782T>A (p.Ile261Asn) n.936T>A c.956T>A (p.Ile319Asn) | |
| 7 | g.42040108T>A | CA367329518 | GLI3 | c.958A>T (p.Ile320Phe) c.781A>T (p.Ile261Phe) n.935A>T c.955A>T (p.Ile319Phe) | |
| 7 | g.42040108T>C | CA367329520 | GLI3 | c.958A>G (p.Ile320Val) c.781A>G (p.Ile261Val) n.935A>G c.955A>G (p.Ile319Val) | |
| 7 | g.42040108T>G | CA367329523 | GLI3 | c.958A>C (p.Ile320Leu) c.781A>C (p.Ile261Leu) n.935A>C c.955A>C (p.Ile319Leu) | |
| 7 | g.42040109C>A | CA454533434 | GLI3 | c.957G>T (p.Thr319=) c.780G>T (p.Thr260=) n.934G>T c.954G>T (p.Thr318=) | |
| 7 | g.42040109C= | CA1702691164 | GLI3 | c.957G= (p.Thr319=) c.780G= (p.Thr260=) n.934G= c.954G= (p.Thr318=) | |
| 7 | g.42040109C>G | CA454533435 | GLI3 | c.957G>C (p.Thr319=) c.780G>C (p.Thr260=) n.934G>C c.954G>C (p.Thr318=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.42040109C>T | CA4231011 | GLI3 | c.957G>A (p.Thr319=) c.780G>A (p.Thr260=) n.934G>A c.954G>A (p.Thr318=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.42040110G>A | CA4231012 | GLI3 | c.956C>T (p.Thr319Met) c.779C>T (p.Thr260Met) n.933C>T c.953C>T (p.Thr318Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.42040110G>C | CA367329525 | GLI3 | c.956C>G (p.Thr319Arg) c.779C>G (p.Thr260Arg) n.933C>G c.953C>G (p.Thr318Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.42040110G= | CA1702691172 | GLI3 | c.956C= (p.Thr319=) c.779C= (p.Thr260=) n.933C= c.953C= (p.Thr318=) | |
| 7 | g.42040110G>T | CA367329528 | GLI3 | c.956C>A (p.Thr319Lys) c.779C>A (p.Thr260Lys) n.933C>A c.953C>A (p.Thr318Lys) | dbSNP |
| 7 | g.42040111T>A | CA367329530 | GLI3 | c.955A>T (p.Thr319Ser) c.778A>T (p.Thr260Ser) n.932A>T c.952A>T (p.Thr318Ser) | |
| 7 | g.42040111T>C | CA367329532 | GLI3 | c.955A>G (p.Thr319Ala) c.778A>G (p.Thr260Ala) n.932A>G c.952A>G (p.Thr318Ala) | |
| 7 | g.42040111T>G | CA367329534 | GLI3 | c.955A>C (p.Thr319Pro) c.778A>C (p.Thr260Pro) n.932A>C c.952A>C (p.Thr318Pro) | |
| 7 | g.42040112G>A | CA4231013 | GLI3 | c.954C>T (p.Val318=) c.777C>T (p.Val259=) n.931C>T c.951C>T (p.Val317=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |