| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.41964348_41964757delinsGAATTTGCTTTCTTCCGCTAGGGAGGTCAGCAAAGAACTCATGTCCCCGATAGCCATGTTGGTGGTGCTCATGGACAGCGCTGGGAATGGGAGGGACGCCCGAGGCGTGGTGAGGCGGGAGGAGCTATGGGAAAGGTTCTGAATGATACTTGGGCTCAGGGCCCCCGACATCAGGCTGGAGTGGTCCCCATCGTCTATGATGGCATCGAAGTCAATCTGTACCCCTTCCAGGTCATGGCTGTCGAGGCTGTCCACTGTGCTTGTCACCTGATTAGCACCTGGGGAAAGTAACTCAGAGTTTTTGGCGCTGGTCCCCTGTAGCAGGCAGCTGGCGTCTGAAATAGAGAATGAACCAGCTTTCGTGTCTTGCTGACTGAAGCCCACGGTTTGGTCATAGAACTGACCAGAGT | CA1702660224 | GLI3 | c.4316_4725delinsACTCTGGTCAGTTCTATGACCAAACCGTGGGCTTCAGTCAGCAAGACACGAAAGCTGGTTCATTCTCTATTTCAGACGCCAGCTGCCTGCTACAGGGGACCAGCGCCAAAAACTCTGAGTTACTTTCCCCAGGTGCTAATCAGGTGACAAGCACAGTGGACAGCCTCGACAGCCATGACCTGGAAGGGGTACAGATTGACTTCGATGCCATCATAGACGATGGGGACCACTCCAGCCTGATGTCGGGGGCCCTGAGCCCAAGTATCATTCAGAACCTTTCCCATAGCTCCTCCCGCCTCACCACGCCTCGGGCGTCCCTCCCATTCCCAGCGCTGTCCATGAGCACCACCAACATGGCTATCGGGGACATGAGTTCTTTGCTGACCTCCCTAGCGGAAGAAAGCAAATTC (p.Tyr1439=) c.4142_4551delinsACTCTGGTCAGTTCTATGACCAAACCGTGGGCTTCAGTCAGCAAGACACGAAAGCTGGTTCATTCTCTATTTCAGACGCCAGCTGCCTGCTACAGGGGACCAGCGCCAAAAACTCTGAGTTACTTTCCCCAGGTGCTAATCAGGTGACAAGCACAGTGGACAGCCTCGACAGCCATGACCTGGAAGGGGTACAGATTGACTTCGATGCCATCATAGACGATGGGGACCACTCCAGCCTGATGTCGGGGGCCCTGAGCCCAAGTATCATTCAGAACCTTTCCCATAGCTCCTCCCGCCTCACCACGCCTCGGGCGTCCCTCCCATTCCCAGCGCTGTCCATGAGCACCACCAACATGGCTATCGGGGACATGAGTTCTTTGCTGACCTCCCTAGCGGAAGAAAGCAAATTC (p.Tyr1381=) n.4293_4702delinsACTCTGGTCAGTTCTATGACCAAACCGTGGGCTTCAGTCAGCAAGACACGAAAGCTGGTTCATTCTCTATTTCAGACGCCAGCTGCCTGCTACAGGGGACCAGCGCCAAAAACTCTGAGTTACTTTCCCCAGGTGCTAATCAGGTGACAAGCACAGTGGACAGCCTCGACAGCCATGACCTGGAAGGGGTACAGATTGACTTCGATGCCATCATAGACGATGGGGACCACTCCAGCCTGATGTCGGGGGCCCTGAGCCCAAGTATCATTCAGAACCTTTCCCATAGCTCCTCCCGCCTCACCACGCCTCGGGCGTCCCTCCCATTCCCAGCGCTGTCCATGAGCACCACCAACATGGCTATCGGGGACATGAGTTCTTTGCTGACCTCCCTAGCGGAAGAAAGCAAATTC c.4139_4548delinsACTCTGGTCAGTTCTATGACCAAACCGTGGGCTTCAGTCAGCAAGACACGAAAGCTGGTTCATTCTCTATTTCAGACGCCAGCTGCCTGCTACAGGGGACCAGCGCCAAAAACTCTGAGTTACTTTCCCCAGGTGCTAATCAGGTGACAAGCACAGTGGACAGCCTCGACAGCCATGACCTGGAAGGGGTACAGATTGACTTCGATGCCATCATAGACGATGGGGACCACTCCAGCCTGATGTCGGGGGCCCTGAGCCCAAGTATCATTCAGAACCTTTCCCATAGCTCCTCCCGCCTCACCACGCCTCGGGCGTCCCTCCCATTCCCAGCGCTGTCCATGAGCACCACCAACATGGCTATCGGGGACATGAGTTCTTTGCTGACCTCCCTAGCGGAAGAAAGCAAATTC (p.Tyr1380=) c.4313_4722delinsACTCTGGTCAGTTCTATGACCAAACCGTGGGCTTCAGTCAGCAAGACACGAAAGCTGGTTCATTCTCTATTTCAGACGCCAGCTGCCTGCTACAGGGGACCAGCGCCAAAAACTCTGAGTTACTTTCCCCAGGTGCTAATCAGGTGACAAGCACAGTGGACAGCCTCGACAGCCATGACCTGGAAGGGGTACAGATTGACTTCGATGCCATCATAGACGATGGGGACCACTCCAGCCTGATGTCGGGGGCCCTGAGCCCAAGTATCATTCAGAACCTTTCCCATAGCTCCTCCCGCCTCACCACGCCTCGGGCGTCCCTCCCATTCCCAGCGCTGTCCATGAGCACCACCAACATGGCTATCGGGGACATGAGTTCTTTGCTGACCTCCCTAGCGGAAGAAAGCAAATTC (p.Tyr1438=) | |
| 7 | g.41964353_41964761del | CA1139660043 | GLI3 | c.4316_4724del (p.Tyr1439SerfsTer9) c.4142_4550del (p.Tyr1381SerfsTer9) n.4293_4701del c.4139_4547del (p.Tyr1380SerfsTer9) c.4313_4721del (p.Tyr1438SerfsTer?) | ClinVar dbSNP |
| 7 | g.41964624A>C | CA454657371 | GLI3 | c.4449T>G (p.Gly1483=) c.4275T>G (p.Gly1425=) n.4426T>G c.4272T>G (p.Gly1424=) c.4446T>G (p.Gly1482=) | |
| 7 | g.41964624A>G | CA454657372 | GLI3 | c.4449T>C (p.Gly1483=) c.4275T>C (p.Gly1425=) n.4426T>C c.4272T>C (p.Gly1424=) c.4446T>C (p.Gly1482=) | |
| 7 | g.41964624A>T | CA454657373 | GLI3 | c.4449T>A (p.Gly1483=) c.4275T>A (p.Gly1425=) n.4426T>A c.4272T>A (p.Gly1424=) c.4446T>A (p.Gly1482=) | |
| 7 | g.41964625C>A | CA367315007 | GLI3 | c.4448G>T (p.Gly1483Val) c.4274G>T (p.Gly1425Val) n.4425G>T c.4271G>T (p.Gly1424Val) c.4445G>T (p.Gly1482Val) | |
| 7 | g.41964625C>G | CA367315008 | GLI3 | c.4448G>C (p.Gly1483Ala) c.4274G>C (p.Gly1425Ala) n.4425G>C c.4271G>C (p.Gly1424Ala) c.4445G>C (p.Gly1482Ala) | |
| 7 | g.41964625C>T | CA367315009 | GLI3 | c.4448G>A (p.Gly1483Asp) c.4274G>A (p.Gly1425Asp) n.4425G>A c.4271G>A (p.Gly1424Asp) c.4445G>A (p.Gly1482Asp) | |
| 7 | g.41964626C>A | CA367315010 | GLI3 | c.4447G>T (p.Gly1483Cys) c.4273G>T (p.Gly1425Cys) n.4424G>T c.4270G>T (p.Gly1424Cys) c.4444G>T (p.Gly1482Cys) | COSMIC |
| 7 | g.41964626C>G | CA367315012 | GLI3 | c.4447G>C (p.Gly1483Arg) c.4273G>C (p.Gly1425Arg) n.4424G>C c.4270G>C (p.Gly1424Arg) c.4444G>C (p.Gly1482Arg) | gnomAD v4 |
| 7 | g.41964626C>T | CA367315011 | GLI3 | c.4447G>A (p.Gly1483Ser) c.4273G>A (p.Gly1425Ser) n.4424G>A c.4270G>A (p.Gly1424Ser) c.4444G>A (p.Gly1482Ser) | gnomAD v4 |
| 7 | g.41964627T>A | CA454657374 | GLI3 | c.4446A>T (p.Pro1482=) c.4272A>T (p.Pro1424=) n.4423A>T c.4269A>T (p.Pro1423=) c.4443A>T (p.Pro1481=) | |
| 7 | g.41964627T>C | CA454657375 | GLI3 | c.4446A>G (p.Pro1482=) c.4272A>G (p.Pro1424=) n.4423A>G c.4269A>G (p.Pro1423=) c.4443A>G (p.Pro1481=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41964627T>G | CA454657376 | GLI3 | c.4446A>C (p.Pro1482=) c.4272A>C (p.Pro1424=) n.4423A>C c.4269A>C (p.Pro1423=) c.4443A>C (p.Pro1481=) | dbSNP |
| 7 | g.41964627T= | CA1702660364 | GLI3 | c.4446A= (p.Pro1482=) c.4272A= (p.Pro1424=) n.4423A= c.4269A= (p.Pro1423=) c.4443A= (p.Pro1481=) | |
| 7 | g.41964628G>A | CA4230129 | GLI3 | c.4445C>T (p.Pro1482Leu) c.4271C>T (p.Pro1424Leu) n.4422C>T c.4268C>T (p.Pro1423Leu) c.4442C>T (p.Pro1481Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41964628G>C | CA367315013 | GLI3 | c.4445C>G (p.Pro1482Arg) c.4271C>G (p.Pro1424Arg) n.4422C>G c.4268C>G (p.Pro1423Arg) c.4442C>G (p.Pro1481Arg) | |
| 7 | g.41964628G= | CA1702660365 | GLI3 | c.4445C= (p.Pro1482=) c.4271C= (p.Pro1424=) n.4422C= c.4268C= (p.Pro1423=) c.4442C= (p.Pro1481=) | |
| 7 | g.41964628G>T | CA367315014 | GLI3 | c.4445C>A (p.Pro1482Gln) c.4271C>A (p.Pro1424Gln) n.4422C>A c.4268C>A (p.Pro1423Gln) c.4442C>A (p.Pro1481Gln) | |
| 7 | g.41964629G>A | CA367315015 | GLI3 | c.4444C>T (p.Pro1482Ser) c.4270C>T (p.Pro1424Ser) n.4421C>T c.4267C>T (p.Pro1423Ser) c.4441C>T (p.Pro1481Ser) | gnomAD v4 COSMIC |
| 7 | g.41964629G>C | CA4230130 | GLI3 | c.4444C>G (p.Pro1482Ala) c.4270C>G (p.Pro1424Ala) n.4421C>G c.4267C>G (p.Pro1423Ala) c.4441C>G (p.Pro1481Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41964629G= | CA1702660366 | GLI3 | c.4444C= (p.Pro1482=) c.4270C= (p.Pro1424=) n.4421C= c.4267C= (p.Pro1423=) c.4441C= (p.Pro1481=) | |
| 7 | g.41964629G>T | CA367315016 | GLI3 | c.4444C>A (p.Pro1482Thr) c.4270C>A (p.Pro1424Thr) n.4421C>A c.4267C>A (p.Pro1423Thr) c.4441C>A (p.Pro1481Thr) | |
| 7 | g.41964630G>A | CA4230131 | GLI3 | c.4443C>T (p.Ser1481=) c.4269C>T (p.Ser1423=) n.4420C>T c.4266C>T (p.Ser1422=) c.4440C>T (p.Ser1480=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.41964630G>C | CA454657377 | GLI3 | c.4443C>G (p.Ser1481=) c.4269C>G (p.Ser1423=) n.4420C>G c.4266C>G (p.Ser1422=) c.4440C>G (p.Ser1480=) | |
| 7 | g.41964630G= | CA1702660367 | GLI3 | c.4443C= (p.Ser1481=) c.4269C= (p.Ser1423=) n.4420C= c.4266C= (p.Ser1422=) c.4440C= (p.Ser1480=) | |
| 7 | g.41964630G>T | CA454657378 | GLI3 | c.4443C>A (p.Ser1481=) c.4269C>A (p.Ser1423=) n.4420C>A c.4266C>A (p.Ser1422=) c.4440C>A (p.Ser1480=) | |
| 7 | g.41964631G>A | CA367315017 | GLI3 | c.4442C>T (p.Ser1481Phe) c.4268C>T (p.Ser1423Phe) n.4419C>T c.4265C>T (p.Ser1422Phe) c.4439C>T (p.Ser1480Phe) | dbSNP |
| 7 | g.41964631G>C | CA367315018 | GLI3 | c.4442C>G (p.Ser1481Cys) c.4268C>G (p.Ser1423Cys) n.4419C>G c.4265C>G (p.Ser1422Cys) c.4439C>G (p.Ser1480Cys) | |
| 7 | g.41964631G= | CA1702660368 | GLI3 | c.4442C= (p.Ser1481=) c.4268C= (p.Ser1423=) n.4419C= c.4265C= (p.Ser1422=) c.4439C= (p.Ser1480=) | |
| 7 | g.41964631G>T | CA367315019 | GLI3 | c.4442C>A (p.Ser1481Tyr) c.4268C>A (p.Ser1423Tyr) n.4419C>A c.4265C>A (p.Ser1422Tyr) c.4439C>A (p.Ser1480Tyr) | |
| 7 | g.41964632A>C | CA367315021 | GLI3 | c.4441T>G (p.Ser1481Ala) c.4267T>G (p.Ser1423Ala) n.4418T>G c.4264T>G (p.Ser1422Ala) c.4438T>G (p.Ser1480Ala) | |
| 7 | g.41964632A>G | CA367315022 | GLI3 | c.4441T>C (p.Ser1481Pro) c.4267T>C (p.Ser1423Pro) n.4418T>C c.4264T>C (p.Ser1422Pro) c.4438T>C (p.Ser1480Pro) | |
| 7 | g.41964632A>T | CA367315020 | GLI3 | c.4441T>A (p.Ser1481Thr) c.4267T>A (p.Ser1423Thr) n.4418T>A c.4264T>A (p.Ser1422Thr) c.4438T>A (p.Ser1480Thr) | |
| 7 | g.41964633A>C | CA454657379 | GLI3 | c.4440T>G (p.Leu1480=) c.4266T>G (p.Leu1422=) n.4417T>G c.4263T>G (p.Leu1421=) c.4437T>G (p.Leu1479=) | |
| 7 | g.41964633A>G | CA454657380 | GLI3 | c.4440T>C (p.Leu1480=) c.4266T>C (p.Leu1422=) n.4417T>C c.4263T>C (p.Leu1421=) c.4437T>C (p.Leu1479=) | |
| 7 | g.41964633A>T | CA454657381 | GLI3 | c.4440T>A (p.Leu1480=) c.4266T>A (p.Leu1422=) n.4417T>A c.4263T>A (p.Leu1421=) c.4437T>A (p.Leu1479=) | |
| 7 | g.41964633_41964643delinsAAGTAACTCAG | CA1702660369 | GLI3 | c.4430_4440delinsCTGAGTTACTT (p.Ser1477=) c.4256_4266delinsCTGAGTTACTT (p.Ser1419=) n.4407_4417delinsCTGAGTTACTT c.4253_4263delinsCTGAGTTACTT (p.Ser1418=) c.4427_4437delinsCTGAGTTACTT (p.Ser1476=) | |
| 7 | g.41964634A>C | CA367315023 | GLI3 | c.4439T>G (p.Leu1480Arg) c.4265T>G (p.Leu1422Arg) n.4416T>G c.4262T>G (p.Leu1421Arg) c.4436T>G (p.Leu1479Arg) | |
| 7 | g.41964634A>G | CA367315024 | GLI3 | c.4439T>C (p.Leu1480Pro) c.4265T>C (p.Leu1422Pro) n.4416T>C c.4262T>C (p.Leu1421Pro) c.4436T>C (p.Leu1479Pro) | |
| 7 | g.41964634A>T | CA367315025 | GLI3 | c.4439T>A (p.Leu1480His) c.4265T>A (p.Leu1422His) n.4416T>A c.4262T>A (p.Leu1421His) c.4436T>A (p.Leu1479His) | |
| 7 | g.41964637_41964646del | CA1139660044 | GLI3 | c.4430_4439del (p.Ser1477PhefsTer8) c.4256_4265del (p.Ser1419PhefsTer8) n.4407_4416del c.4253_4262del (p.Ser1418PhefsTer8) c.4427_4436del (p.Ser1476PhefsTer8) | ClinVar dbSNP |
| 7 | g.41964635G>A | CA367315026 | GLI3 | c.4438C>T (p.Leu1480Phe) c.4264C>T (p.Leu1422Phe) n.4415C>T c.4261C>T (p.Leu1421Phe) c.4435C>T (p.Leu1479Phe) | |
| 7 | g.41964635G>C | CA367315027 | GLI3 | c.4438C>G (p.Leu1480Val) c.4264C>G (p.Leu1422Val) n.4415C>G c.4261C>G (p.Leu1421Val) c.4435C>G (p.Leu1479Val) | |
| 7 | g.41964635G>T | CA367315028 | GLI3 | c.4438C>A (p.Leu1480Ile) c.4264C>A (p.Leu1422Ile) n.4415C>A c.4261C>A (p.Leu1421Ile) c.4435C>A (p.Leu1479Ile) | |
| 7 | g.41964636T>A | CA367315029 | GLI3 | c.4437A>T (p.Leu1479Phe) c.4263A>T (p.Leu1421Phe) n.4414A>T c.4260A>T (p.Leu1420Phe) c.4434A>T (p.Leu1478Phe) | |
| 7 | g.41964636T>C | CA454657382 | GLI3 | c.4437A>G (p.Leu1479=) c.4263A>G (p.Leu1421=) n.4414A>G c.4260A>G (p.Leu1420=) c.4434A>G (p.Leu1478=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41964636T>G | CA367315030 | GLI3 | c.4437A>C (p.Leu1479Phe) c.4263A>C (p.Leu1421Phe) n.4414A>C c.4260A>C (p.Leu1420Phe) c.4434A>C (p.Leu1478Phe) | |
| 7 | g.41964636T= | CA1702660370 | GLI3 | c.4437A= (p.Leu1479=) c.4263A= (p.Leu1421=) n.4414A= c.4260A= (p.Leu1420=) c.4434A= (p.Leu1478=) | |
| 7 | g.41964637A= | CA1702660371 | GLI3 | c.4436T= (p.Leu1479=) c.4262T= (p.Leu1421=) n.4413T= c.4259T= (p.Leu1420=) c.4433T= (p.Leu1478=) |