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=) | |
7 | g.41964637A>C | CA367315031 | GLI3 | c.4436T>G (p.Leu1479Ter) c.4262T>G (p.Leu1421Ter) n.4413T>G c.4259T>G (p.Leu1420Ter) c.4433T>G (p.Leu1478Ter) | |
7 | g.41964637A>G | CA16044275 | GLI3 | c.4436T>C (p.Leu1479Ser) c.4262T>C (p.Leu1421Ser) n.4413T>C c.4259T>C (p.Leu1420Ser) c.4433T>C (p.Leu1478Ser) | ClinVar dbSNP |
7 | g.41964637A>T | CA367315032 | GLI3 | c.4436T>A (p.Leu1479Ter) c.4262T>A (p.Leu1421Ter) n.4413T>A c.4259T>A (p.Leu1420Ter) c.4433T>A (p.Leu1478Ter) | |
7 | g.41964638A= | CA1702660372 | GLI3 | c.4435T= (p.Leu1479=) c.4261T= (p.Leu1421=) n.4412T= c.4258T= (p.Leu1420=) c.4432T= (p.Leu1478=) | |
7 | g.41964638A>C | CA367315033 | GLI3 | c.4435T>G (p.Leu1479Val) c.4261T>G (p.Leu1421Val) n.4412T>G c.4258T>G (p.Leu1420Val) c.4432T>G (p.Leu1478Val) | |
7 | g.41964638A>G | CA454657383 | GLI3 | c.4435T>C (p.Leu1479=) c.4261T>C (p.Leu1421=) n.4412T>C c.4258T>C (p.Leu1420=) c.4432T>C (p.Leu1478=) | dbSNP |
7 | g.41964638A>T | CA367315034 | GLI3 | c.4435T>A (p.Leu1479Ile) c.4261T>A (p.Leu1421Ile) n.4412T>A c.4258T>A (p.Leu1420Ile) c.4432T>A (p.Leu1478Ile) | |
7 | g.41964639C>A | CA367315036 | GLI3 | c.4434G>T (p.Glu1478Asp) c.4260G>T (p.Glu1420Asp) n.4411G>T c.4257G>T (p.Glu1419Asp) c.4431G>T (p.Glu1477Asp) | |
7 | g.41964639C>G | CA367315035 | GLI3 | c.4434G>C (p.Glu1478Asp) c.4260G>C (p.Glu1420Asp) n.4411G>C c.4257G>C (p.Glu1419Asp) c.4431G>C (p.Glu1477Asp) | |
7 | g.41964639C>T | CA454657384 | GLI3 | c.4434G>A (p.Glu1478=) c.4260G>A (p.Glu1420=) n.4411G>A c.4257G>A (p.Glu1419=) c.4431G>A (p.Glu1477=) | gnomAD v4 |
7 | g.41964640T>A | CA367315037 | GLI3 | c.4433A>T (p.Glu1478Val) c.4259A>T (p.Glu1420Val) n.4410A>T c.4256A>T (p.Glu1419Val) c.4430A>T (p.Glu1477Val) | |
7 | g.41964640T>C | CA367315038 | GLI3 | c.4433A>G (p.Glu1478Gly) c.4259A>G (p.Glu1420Gly) n.4410A>G c.4256A>G (p.Glu1419Gly) c.4430A>G (p.Glu1477Gly) | |
7 | g.41964640T>G | CA367315039 | GLI3 | c.4433A>C (p.Glu1478Ala) c.4259A>C (p.Glu1420Ala) n.4410A>C c.4256A>C (p.Glu1419Ala) c.4430A>C (p.Glu1477Ala) | |
7 | g.41964641C>A | CA367315040 | GLI3 | c.4432G>T (p.Glu1478Ter) c.4258G>T (p.Glu1420Ter) n.4409G>T c.4255G>T (p.Glu1419Ter) c.4429G>T (p.Glu1477Ter) | |
7 | g.41964641C= | CA1702660373 | GLI3 | c.4432G= (p.Glu1478=) c.4258G= (p.Glu1420=) n.4409G= c.4255G= (p.Glu1419=) c.4429G= (p.Glu1477=) | |
7 | g.41964641C>G | CA367315041 | GLI3 | c.4432G>C (p.Glu1478Gln) c.4258G>C (p.Glu1420Gln) n.4409G>C c.4255G>C (p.Glu1419Gln) c.4429G>C (p.Glu1477Gln) | gnomAD v4 |
7 | g.41964641C>T | CA367315042 | GLI3 | c.4432G>A (p.Glu1478Lys) c.4258G>A (p.Glu1420Lys) n.4409G>A c.4255G>A (p.Glu1419Lys) c.4429G>A (p.Glu1477Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41964642A>C | CA454657387 | GLI3 | c.4431T>G (p.Ser1477=) c.4257T>G (p.Ser1419=) n.4408T>G c.4254T>G (p.Ser1418=) c.4428T>G (p.Ser1476=) | |
7 | g.41964642A>G | CA454657385 | GLI3 | c.4431T>C (p.Ser1477=) c.4257T>C (p.Ser1419=) n.4408T>C c.4254T>C (p.Ser1418=) c.4428T>C (p.Ser1476=) | |
7 | g.41964642A>T | CA454657386 | GLI3 | c.4431T>A (p.Ser1477=) c.4257T>A (p.Ser1419=) n.4408T>A c.4254T>A (p.Ser1418=) c.4428T>A (p.Ser1476=) | |
7 | g.41964642dup | CA16603175 | GLI3 | c.4431dup (p.Glu1478Ter) c.4257dup (p.Glu1420Ter) n.4408dup c.4254dup (p.Glu1419Ter) c.4428dup (p.Glu1477Ter) | ClinVar dbSNP |
7 | g.41964644_41964645del | CA2695207613 | GLI3 | c.4430_4431del (p.Ser1477Ter) c.4256_4257del (p.Ser1419Ter) n.4407_4408del c.4253_4254del (p.Ser1418Ter) c.4427_4428del (p.Ser1476Ter) | |
7 | g.41964643G>A | CA367315043 | GLI3 | c.4430C>T (p.Ser1477Phe) c.4256C>T (p.Ser1419Phe) n.4407C>T c.4253C>T (p.Ser1418Phe) c.4427C>T (p.Ser1476Phe) | gnomAD v4 |
7 | g.41964643G>C | CA367315044 | GLI3 | c.4430C>G (p.Ser1477Cys) c.4256C>G (p.Ser1419Cys) n.4407C>G c.4253C>G (p.Ser1418Cys) c.4427C>G (p.Ser1476Cys) | |
7 | g.41964643G>T | CA367315045 | GLI3 | c.4430C>A (p.Ser1477Tyr) c.4256C>A (p.Ser1419Tyr) n.4407C>A c.4253C>A (p.Ser1418Tyr) c.4427C>A (p.Ser1476Tyr) | |
7 | g.41964644A>C | CA367315046 | GLI3 | c.4429T>G (p.Ser1477Ala) c.4255T>G (p.Ser1419Ala) n.4406T>G c.4252T>G (p.Ser1418Ala) c.4426T>G (p.Ser1476Ala) | |
7 | g.41964644A>G | CA367315047 | GLI3 | c.4429T>C (p.Ser1477Pro) c.4255T>C (p.Ser1419Pro) n.4406T>C c.4252T>C (p.Ser1418Pro) c.4426T>C (p.Ser1476Pro) | |
7 | g.41964644A>T | CA367315048 | GLI3 | c.4429T>A (p.Ser1477Thr) c.4255T>A (p.Ser1419Thr) n.4406T>A c.4252T>A (p.Ser1418Thr) c.4426T>A (p.Ser1476Thr) | |
7 | g.41964645G>A | CA454657388 | GLI3 | c.4428C>T (p.Asn1476=) c.4254C>T (p.Asn1418=) n.4405C>T c.4251C>T (p.Asn1417=) c.4425C>T (p.Asn1475=) | dbSNP |
7 | g.41964645G>C | CA367315049 | GLI3 | c.4428C>G (p.Asn1476Lys) c.4254C>G (p.Asn1418Lys) n.4405C>G c.4251C>G (p.Asn1417Lys) c.4425C>G (p.Asn1475Lys) | |
7 | g.41964645G= | CA1702660374 | GLI3 | c.4428C= (p.Asn1476=) c.4254C= (p.Asn1418=) n.4405C= c.4251C= (p.Asn1417=) c.4425C= (p.Asn1475=) | |
7 | g.41964645G>T | CA4230132 | GLI3 | c.4428C>A (p.Asn1476Lys) c.4254C>A (p.Asn1418Lys) n.4405C>A c.4251C>A (p.Asn1417Lys) c.4425C>A (p.Asn1475Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41964646T>A | CA4230133 | GLI3 | c.4427A>T (p.Asn1476Ile) c.4253A>T (p.Asn1418Ile) n.4404A>T c.4250A>T (p.Asn1417Ile) c.4424A>T (p.Asn1475Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41964646T>C | CA367315051 | GLI3 | c.4427A>G (p.Asn1476Ser) c.4253A>G (p.Asn1418Ser) n.4404A>G c.4250A>G (p.Asn1417Ser) c.4424A>G (p.Asn1475Ser) | gnomAD v4 |
7 | g.41964646T>G | CA367315050 | GLI3 | c.4427A>C (p.Asn1476Thr) c.4253A>C (p.Asn1418Thr) n.4404A>C c.4250A>C (p.Asn1417Thr) c.4424A>C (p.Asn1475Thr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41964646T= | CA1702660375 | GLI3 | c.4427A= (p.Asn1476=) c.4253A= (p.Asn1418=) n.4404A= c.4250A= (p.Asn1417=) c.4424A= (p.Asn1475=) | |
7 | g.41964650dup | CA645566062 | GLI3 | c.4427dup (p.Asn1476LysfsTer3) c.4253dup (p.Asn1418LysfsTer3) n.4404dup c.4250dup (p.Asn1417LysfsTer3) c.4424dup (p.Asn1475LysfsTer3) | COSMIC |
7 | g.41964650del | CA2682509897 | GLI3 | c.4427del (p.Asn1476ThrfsTer12) c.4253del (p.Asn1418ThrfsTer12) n.4404del c.4250del (p.Asn1417ThrfsTer12) c.4424del (p.Asn1475ThrfsTer12) | gnomAD v4 |
7 | g.41964646_41964647insA | CA454657389 | GLI3 | c.4426_4427insT (p.Asn1476IlefsTer3) c.4252_4253insT (p.Asn1418IlefsTer3) n.4403_4404insT c.4249_4250insT (p.Asn1417IlefsTer3) c.4423_4424insT (p.Asn1475IlefsTer3) | |
7 | g.41964647T>A | CA367315053 | GLI3 | c.4426A>T (p.Asn1476Tyr) c.4252A>T (p.Asn1418Tyr) n.4403A>T c.4249A>T (p.Asn1417Tyr) c.4423A>T (p.Asn1475Tyr) | |
7 | g.41964647T>C | CA367315052 | GLI3 | c.4426A>G (p.Asn1476Asp) c.4252A>G (p.Asn1418Asp) n.4403A>G c.4249A>G (p.Asn1417Asp) c.4423A>G (p.Asn1475Asp) | |
7 | g.41964647T>G | CA367315054 | GLI3 | c.4426A>C (p.Asn1476His) c.4252A>C (p.Asn1418His) n.4403A>C c.4249A>C (p.Asn1417His) c.4423A>C (p.Asn1475His) | |
7 | g.41964647_41964648insA | CA2573332594 | GLI3 | c.4425_4426insT (p.Asn1476Ter) c.4251_4252insT (p.Asn1418Ter) n.4402_4403insT c.4248_4249insT (p.Asn1417Ter) c.4422_4423insT (p.Asn1475Ter) | |
7 | g.41964648T>A | CA367315055 | GLI3 | c.4425A>T (p.Lys1475Asn) c.4251A>T (p.Lys1417Asn) n.4402A>T c.4248A>T (p.Lys1416Asn) c.4422A>T (p.Lys1474Asn) | |
7 | g.41964648T>C | CA454657390 | GLI3 | c.4425A>G (p.Lys1475=) c.4251A>G (p.Lys1417=) n.4402A>G c.4248A>G (p.Lys1416=) c.4422A>G (p.Lys1474=) | |
7 | g.41964648T>G | CA367315056 | GLI3 | c.4425A>C (p.Lys1475Asn) c.4251A>C (p.Lys1417Asn) n.4402A>C c.4248A>C (p.Lys1416Asn) c.4422A>C (p.Lys1474Asn) | |
7 | g.41964649T>A | CA367315057 | GLI3 | c.4424A>T (p.Lys1475Ile) c.4250A>T (p.Lys1417Ile) n.4401A>T c.4247A>T (p.Lys1416Ile) c.4421A>T (p.Lys1474Ile) | |
7 | g.41964649T>C | CA4230134 | GLI3 | c.4424A>G (p.Lys1475Arg) c.4250A>G (p.Lys1417Arg) n.4401A>G c.4247A>G (p.Lys1416Arg) c.4421A>G (p.Lys1474Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41964649T>G | CA367315058 | GLI3 | c.4424A>C (p.Lys1475Thr) c.4250A>C (p.Lys1417Thr) n.4401A>C c.4247A>C (p.Lys1416Thr) c.4421A>C (p.Lys1474Thr) | |
7 | g.41964649T= | CA1702660376 | GLI3 | c.4424A= (p.Lys1475=) c.4250A= (p.Lys1417=) n.4401A= c.4247A= (p.Lys1416=) c.4421A= (p.Lys1474=) | |
7 | g.41964650T>A | CA367315059 | GLI3 | c.4423A>T (p.Lys1475Ter) c.4249A>T (p.Lys1417Ter) n.4400A>T c.4246A>T (p.Lys1416Ter) c.4420A>T (p.Lys1474Ter) | |
7 | g.41964650T>C | CA367315060 | GLI3 | c.4423A>G (p.Lys1475Glu) c.4249A>G (p.Lys1417Glu) n.4400A>G c.4246A>G (p.Lys1416Glu) c.4420A>G (p.Lys1474Glu) | |
7 | g.41964650T>G | CA367315061 | GLI3 | c.4423A>C (p.Lys1475Gln) c.4249A>C (p.Lys1417Gln) n.4400A>C c.4246A>C (p.Lys1416Gln) c.4420A>C (p.Lys1474Gln) | |
7 | g.41964651G>A | CA454657392 | GLI3 | c.4422C>T (p.Ala1474=) c.4248C>T (p.Ala1416=) n.4399C>T c.4245C>T (p.Ala1415=) c.4419C>T (p.Ala1473=) | |
7 | g.41964651G>C | CA454657393 | GLI3 | c.4422C>G (p.Ala1474=) c.4248C>G (p.Ala1416=) n.4399C>G c.4245C>G (p.Ala1415=) c.4419C>G (p.Ala1473=) | |
7 | g.41964651G>T | CA454657391 | GLI3 | c.4422C>A (p.Ala1474=) c.4248C>A (p.Ala1416=) n.4399C>A c.4245C>A (p.Ala1415=) c.4419C>A (p.Ala1473=) | |
7 | g.41964652G>A | CA367315062 | GLI3 | c.4421C>T (p.Ala1474Val) c.4247C>T (p.Ala1416Val) n.4398C>T c.4244C>T (p.Ala1415Val) c.4418C>T (p.Ala1473Val) | |
7 | g.41964652G>C | CA367315063 | GLI3 | c.4421C>G (p.Ala1474Gly) c.4247C>G (p.Ala1416Gly) n.4398C>G c.4244C>G (p.Ala1415Gly) c.4418C>G (p.Ala1473Gly) | |
7 | g.41964652G>T | CA367315064 | GLI3 | c.4421C>A (p.Ala1474Asp) c.4247C>A (p.Ala1416Asp) n.4398C>A c.4244C>A (p.Ala1415Asp) c.4418C>A (p.Ala1473Asp) | |
7 | g.41964653C>A | CA367315065 | GLI3 | c.4420G>T (p.Ala1474Ser) c.4246G>T (p.Ala1416Ser) n.4397G>T c.4243G>T (p.Ala1415Ser) c.4417G>T (p.Ala1473Ser) | |
7 | g.41964653C= | CA1702660377 | GLI3 | c.4420G= (p.Ala1474=) c.4246G= (p.Ala1416=) n.4397G= c.4243G= (p.Ala1415=) c.4417G= (p.Ala1473=) | |
7 | g.41964653C>G | CA367315066 | GLI3 | c.4420G>C (p.Ala1474Pro) c.4246G>C (p.Ala1416Pro) n.4397G>C c.4243G>C (p.Ala1415Pro) c.4417G>C (p.Ala1473Pro) | |
7 | g.41964653C>T | CA4230135 | GLI3 | c.4420G>A (p.Ala1474Thr) c.4246G>A (p.Ala1416Thr) n.4397G>A c.4243G>A (p.Ala1415Thr) c.4417G>A (p.Ala1473Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.41964654G>A | CA454657394 | GLI3 | c.4419C>T (p.Ser1473=) c.4245C>T (p.Ser1415=) n.4396C>T c.4242C>T (p.Ser1414=) c.4416C>T (p.Ser1472=) | gnomAD v4 |
7 | g.41964654G>C | CA367315067 | GLI3 | c.4419C>G (p.Ser1473Arg) c.4245C>G (p.Ser1415Arg) n.4396C>G c.4242C>G (p.Ser1414Arg) c.4416C>G (p.Ser1472Arg) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.41964654G= | CA1702660378 | GLI3 | c.4419C= (p.Ser1473=) c.4245C= (p.Ser1415=) n.4396C= c.4242C= (p.Ser1414=) c.4416C= (p.Ser1472=) | |
7 | g.41964654G>T | CA367315068 | GLI3 | c.4419C>A (p.Ser1473Arg) c.4245C>A (p.Ser1415Arg) n.4396C>A c.4242C>A (p.Ser1414Arg) c.4416C>A (p.Ser1472Arg) | dbSNP gnomAD v4 |
7 | g.41964655C>A | CA367315069 | GLI3 | c.4418G>T (p.Ser1473Ile) c.4244G>T (p.Ser1415Ile) n.4395G>T c.4241G>T (p.Ser1414Ile) c.4415G>T (p.Ser1472Ile) | |
7 | g.41964655C= | CA1702660379 | GLI3 | c.4418G= (p.Ser1473=) c.4244G= (p.Ser1415=) n.4395G= c.4241G= (p.Ser1414=) c.4415G= (p.Ser1472=) | |
7 | g.41964655C>G | CA367315070 | GLI3 | c.4418G>C (p.Ser1473Thr) c.4244G>C (p.Ser1415Thr) n.4395G>C c.4241G>C (p.Ser1414Thr) c.4415G>C (p.Ser1472Thr) | dbSNP |
7 | g.41964655C>T | CA367315071 | GLI3 | c.4418G>A (p.Ser1473Asn) c.4244G>A (p.Ser1415Asn) n.4395G>A c.4241G>A (p.Ser1414Asn) c.4415G>A (p.Ser1472Asn) | |
7 | g.41964656T>A | CA367315072 | GLI3 | c.4417A>T (p.Ser1473Cys) c.4243A>T (p.Ser1415Cys) n.4394A>T c.4240A>T (p.Ser1414Cys) c.4414A>T (p.Ser1472Cys) | |
7 | g.41964656T>C | CA367315073 | GLI3 | c.4417A>G (p.Ser1473Gly) c.4243A>G (p.Ser1415Gly) n.4394A>G c.4240A>G (p.Ser1414Gly) c.4414A>G (p.Ser1472Gly) | |
7 | g.41964656T>G | CA367315074 | GLI3 | c.4417A>C (p.Ser1473Arg) c.4243A>C (p.Ser1415Arg) n.4394A>C c.4240A>C (p.Ser1414Arg) c.4414A>C (p.Ser1472Arg) | |
7 | g.41964657G>A | CA454657395 | GLI3 | c.4416C>T (p.Thr1472=) c.4242C>T (p.Thr1414=) n.4393C>T c.4239C>T (p.Thr1413=) c.4413C>T (p.Thr1471=) | COSMIC |
7 | g.41964657G>C | CA454657397 | GLI3 | c.4416C>G (p.Thr1472=) c.4242C>G (p.Thr1414=) n.4393C>G c.4239C>G (p.Thr1413=) c.4413C>G (p.Thr1471=) | |
7 | g.41964657G>T | CA454657396 | GLI3 | c.4416C>A (p.Thr1472=) c.4242C>A (p.Thr1414=) n.4393C>A c.4239C>A (p.Thr1413=) c.4413C>A (p.Thr1471=) | |
7 | g.41964658del | CA2578873898 | GLI3 | c.4416del (p.Ser1473AlafsTer15) c.4242del (p.Ser1415AlafsTer15) n.4393del c.4239del (p.Ser1414AlafsTer15) c.4413del (p.Ser1472AlafsTer15) | |
7 | g.41964658G>A | CA367315075 | GLI3 | c.4415C>T (p.Thr1472Ile) c.4241C>T (p.Thr1414Ile) n.4392C>T c.4238C>T (p.Thr1413Ile) c.4412C>T (p.Thr1471Ile) | |
7 | g.41964658G>C | CA367315076 | GLI3 | c.4415C>G (p.Thr1472Ser) c.4241C>G (p.Thr1414Ser) n.4392C>G c.4238C>G (p.Thr1413Ser) c.4412C>G (p.Thr1471Ser) | |
7 | g.41964658G>T | CA367315077 | GLI3 | c.4415C>A (p.Thr1472Asn) c.4241C>A (p.Thr1414Asn) n.4392C>A c.4238C>A (p.Thr1413Asn) c.4412C>A (p.Thr1471Asn) | |
7 | g.41964659T>A | CA367315078 | GLI3 | c.4414A>T (p.Thr1472Ser) c.4240A>T (p.Thr1414Ser) n.4391A>T c.4237A>T (p.Thr1413Ser) c.4411A>T (p.Thr1471Ser) | |
7 | g.41964659T>C | CA367315079 | GLI3 | c.4414A>G (p.Thr1472Ala) c.4240A>G (p.Thr1414Ala) n.4391A>G c.4237A>G (p.Thr1413Ala) c.4411A>G (p.Thr1471Ala) | |
7 | g.41964659T>G | CA367315080 | GLI3 | c.4414A>C (p.Thr1472Pro) c.4240A>C (p.Thr1414Pro) n.4391A>C c.4237A>C (p.Thr1413Pro) c.4411A>C (p.Thr1471Pro) | |
7 | g.41964660C>A | CA4230136 | GLI3 | c.4413G>T (p.Gly1471=) c.4239G>T (p.Gly1413=) n.4390G>T c.4236G>T (p.Gly1412=) c.4410G>T (p.Gly1470=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41964660C= | CA1702660380 | GLI3 | c.4413G= (p.Gly1471=) c.4239G= (p.Gly1413=) n.4390G= c.4236G= (p.Gly1412=) c.4410G= (p.Gly1470=) | |
7 | g.41964660C>G | CA454657398 | GLI3 | c.4413G>C (p.Gly1471=) c.4239G>C (p.Gly1413=) n.4390G>C c.4236G>C (p.Gly1412=) c.4410G>C (p.Gly1470=) | |
7 | g.41964660C>T | CA454657399 | GLI3 | c.4413G>A (p.Gly1471=) c.4239G>A (p.Gly1413=) n.4390G>A c.4236G>A (p.Gly1412=) c.4410G>A (p.Gly1470=) | dbSNP COSMIC |
7 | g.41964663del | CA2573142117 | GLI3 | c.4413del (p.Thr1472ProfsTer16) c.4239del (p.Thr1414ProfsTer16) n.4390del c.4236del (p.Thr1413ProfsTer16) c.4410del (p.Thr1471ProfsTer16) | ClinVar dbSNP |
7 | g.41964661C>A | CA367315083 | GLI3 | c.4412G>T (p.Gly1471Val) c.4238G>T (p.Gly1413Val) n.4389G>T c.4235G>T (p.Gly1412Val) c.4409G>T (p.Gly1470Val) | |
7 | g.41964661C>G | CA367315081 | GLI3 | c.4412G>C (p.Gly1471Ala) c.4238G>C (p.Gly1413Ala) n.4389G>C c.4235G>C (p.Gly1412Ala) c.4409G>C (p.Gly1470Ala) | |
7 | g.41964661C>T | CA367315082 | GLI3 | c.4412G>A (p.Gly1471Glu) c.4238G>A (p.Gly1413Glu) n.4389G>A c.4235G>A (p.Gly1412Glu) c.4409G>A (p.Gly1470Glu) | gnomAD v4 |
7 | g.41964662C>A | CA367315084 | GLI3 | c.4411G>T (p.Gly1471Trp) c.4237G>T (p.Gly1413Trp) n.4388G>T c.4234G>T (p.Gly1412Trp) c.4408G>T (p.Gly1470Trp) | |
7 | g.41964662C>G | CA367315085 | GLI3 | c.4411G>C (p.Gly1471Arg) c.4237G>C (p.Gly1413Arg) n.4388G>C c.4234G>C (p.Gly1412Arg) c.4408G>C (p.Gly1470Arg) | |
7 | g.41964662C>T | CA367315086 | GLI3 | c.4411G>A (p.Gly1471Arg) c.4237G>A (p.Gly1413Arg) n.4388G>A c.4234G>A (p.Gly1412Arg) c.4408G>A (p.Gly1470Arg) | ClinVar gnomAD v4 |
7 | g.41964663C>A | CA367315087 | GLI3 | c.4410G>T (p.Gln1470His) c.4236G>T (p.Gln1412His) n.4387G>T c.4233G>T (p.Gln1411His) c.4407G>T (p.Gln1469His) | |
7 | g.41964663C>G | CA367315088 | GLI3 | c.4410G>C (p.Gln1470His) c.4236G>C (p.Gln1412His) n.4387G>C c.4233G>C (p.Gln1411His) c.4407G>C (p.Gln1469His) | |
7 | g.41964663C>T | CA454657400 | GLI3 | c.4410G>A (p.Gln1470=) c.4236G>A (p.Gln1412=) n.4387G>A c.4233G>A (p.Gln1411=) c.4407G>A (p.Gln1469=) | gnomAD v4 |
7 | g.41964664T>A | CA367315089 | GLI3 | c.4409A>T (p.Gln1470Leu) c.4235A>T (p.Gln1412Leu) n.4386A>T c.4232A>T (p.Gln1411Leu) c.4406A>T (p.Gln1469Leu) | |
7 | g.41964664T>C | CA156902094 | GLI3 | c.4409A>G (p.Gln1470Arg) c.4235A>G (p.Gln1412Arg) n.4386A>G c.4232A>G (p.Gln1411Arg) c.4406A>G (p.Gln1469Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.41964664T>G | CA367315090 | GLI3 | c.4409A>C (p.Gln1470Pro) c.4235A>C (p.Gln1412Pro) n.4386A>C c.4232A>C (p.Gln1411Pro) c.4406A>C (p.Gln1469Pro) | |
7 | g.41964664T= | CA1702660381 | GLI3 | c.4409A= (p.Gln1470=) c.4235A= (p.Gln1412=) n.4386A= c.4232A= (p.Gln1411=) c.4406A= (p.Gln1469=) | |
7 | g.41964665G>A | CA367315091 | GLI3 | c.4408C>T (p.Gln1470Ter) c.4234C>T (p.Gln1412Ter) n.4385C>T c.4231C>T (p.Gln1411Ter) c.4405C>T (p.Gln1469Ter) | |
7 | g.41964665G>C | CA367315092 | GLI3 | c.4408C>G (p.Gln1470Glu) c.4234C>G (p.Gln1412Glu) n.4385C>G c.4231C>G (p.Gln1411Glu) c.4405C>G (p.Gln1469Glu) | |
7 | g.41964665G>T | CA367315093 | GLI3 | c.4408C>A (p.Gln1470Lys) c.4234C>A (p.Gln1412Lys) n.4385C>A c.4231C>A (p.Gln1411Lys) c.4405C>A (p.Gln1469Lys) | |
7 | g.41964666T>A | CA454657401 | GLI3 | c.4407A>T (p.Leu1469=) c.4233A>T (p.Leu1411=) n.4384A>T c.4230A>T (p.Leu1410=) c.4404A>T (p.Leu1468=) | |
7 | g.41964666T>C | CA454657402 | GLI3 | c.4407A>G (p.Leu1469=) c.4233A>G (p.Leu1411=) n.4384A>G c.4230A>G (p.Leu1410=) c.4404A>G (p.Leu1468=) | gnomAD v4 |
7 | g.41964666T>G | CA454657403 | GLI3 | c.4407A>C (p.Leu1469=) c.4233A>C (p.Leu1411=) n.4384A>C c.4230A>C (p.Leu1410=) c.4404A>C (p.Leu1468=) | |
7 | g.41964667A>C | CA367315096 | GLI3 | c.4406T>G (p.Leu1469Arg) c.4232T>G (p.Leu1411Arg) n.4383T>G c.4229T>G (p.Leu1410Arg) c.4403T>G (p.Leu1468Arg) | |
7 | g.41964667A>G | CA367315094 | GLI3 | c.4406T>C (p.Leu1469Pro) c.4232T>C (p.Leu1411Pro) n.4383T>C c.4229T>C (p.Leu1410Pro) c.4403T>C (p.Leu1468Pro) | |
7 | g.41964667A>T | CA367315095 | GLI3 | c.4406T>A (p.Leu1469Gln) c.4232T>A (p.Leu1411Gln) n.4383T>A c.4229T>A (p.Leu1410Gln) c.4403T>A (p.Leu1468Gln) | |
7 | g.41964668G>A | CA454657404 | GLI3 | c.4405C>T (p.Leu1469=) c.4231C>T (p.Leu1411=) n.4382C>T c.4228C>T (p.Leu1410=) c.4402C>T (p.Leu1468=) | |
7 | g.41964668G>C | CA367315097 | GLI3 | c.4405C>G (p.Leu1469Val) c.4231C>G (p.Leu1411Val) n.4382C>G c.4228C>G (p.Leu1410Val) c.4402C>G (p.Leu1468Val) | |
7 | g.41964668G>T | CA367315098 | GLI3 | c.4405C>A (p.Leu1469Ile) c.4231C>A (p.Leu1411Ile) n.4382C>A c.4228C>A (p.Leu1410Ile) c.4402C>A (p.Leu1468Ile) | |
7 | g.41964669C>A | CA454657405 | GLI3 | c.4404G>T (p.Leu1468=) c.4230G>T (p.Leu1410=) n.4381G>T c.4227G>T (p.Leu1409=) c.4401G>T (p.Leu1467=) | |
7 | g.41964669C>G | CA454657406 | GLI3 | c.4404G>C (p.Leu1468=) c.4230G>C (p.Leu1410=) n.4381G>C c.4227G>C (p.Leu1409=) c.4401G>C (p.Leu1467=) | |
7 | g.41964669C>T | CA454657407 | GLI3 | c.4404G>A (p.Leu1468=) c.4230G>A (p.Leu1410=) n.4381G>A c.4227G>A (p.Leu1409=) c.4401G>A (p.Leu1467=) | |
7 | g.41964670A>C | CA367315099 | GLI3 | c.4403T>G (p.Leu1468Arg) c.4229T>G (p.Leu1410Arg) n.4380T>G c.4226T>G (p.Leu1409Arg) c.4400T>G (p.Leu1467Arg) | gnomAD v4 |
7 | g.41964670A>G | CA367315100 | GLI3 | c.4403T>C (p.Leu1468Pro) c.4229T>C (p.Leu1410Pro) n.4380T>C c.4226T>C (p.Leu1409Pro) c.4400T>C (p.Leu1467Pro) | |
7 | g.41964670A>T | CA367315101 | GLI3 | c.4403T>A (p.Leu1468Gln) c.4229T>A (p.Leu1410Gln) n.4380T>A c.4226T>A (p.Leu1409Gln) c.4400T>A (p.Leu1467Gln) | |
7 | g.41964670_41964671insC | CA2695207614 | GLI3 | c.4402_4403insG (p.Leu1468ArgfsTer11) c.4228_4229insG (p.Leu1410ArgfsTer11) n.4379_4380insG c.4225_4226insG (p.Leu1409ArgfsTer11) c.4399_4400insG (p.Leu1467ArgfsTer11) | |
7 | g.41964671G>A | CA454657408 | GLI3 | c.4402C>T (p.Leu1468=) c.4228C>T (p.Leu1410=) n.4379C>T c.4225C>T (p.Leu1409=) c.4399C>T (p.Leu1467=) | |
7 | g.41964671G>C | CA367315102 | GLI3 | c.4402C>G (p.Leu1468Val) c.4228C>G (p.Leu1410Val) n.4379C>G c.4225C>G (p.Leu1409Val) c.4399C>G (p.Leu1467Val) | |
7 | g.41964671G>T | CA367315103 | GLI3 | c.4402C>A (p.Leu1468Met) c.4228C>A (p.Leu1410Met) n.4379C>A c.4225C>A (p.Leu1409Met) c.4399C>A (p.Leu1467Met) | |
7 | g.41964672G>A | CA454657409 | GLI3 | c.4401C>T (p.Cys1467=) c.4227C>T (p.Cys1409=) n.4378C>T c.4224C>T (p.Cys1408=) c.4398C>T (p.Cys1466=) | |
7 | g.41964672G>C | CA367315104 | GLI3 | c.4401C>G (p.Cys1467Trp) c.4227C>G (p.Cys1409Trp) n.4378C>G c.4224C>G (p.Cys1408Trp) c.4398C>G (p.Cys1466Trp) | |
7 | g.41964672G>T | CA367315105 | GLI3 | c.4401C>A (p.Cys1467Ter) c.4227C>A (p.Cys1409Ter) n.4378C>A c.4224C>A (p.Cys1408Ter) c.4398C>A (p.Cys1466Ter) | |
7 | g.41964673C>A | CA4230137 | GLI3 | c.4400G>T (p.Cys1467Phe) c.4226G>T (p.Cys1409Phe) n.4377G>T c.4223G>T (p.Cys1408Phe) c.4397G>T (p.Cys1466Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41964673C= | CA1702660382 | GLI3 | c.4400G= (p.Cys1467=) c.4226G= (p.Cys1409=) n.4377G= c.4223G= (p.Cys1408=) c.4397G= (p.Cys1466=) | |
7 | g.41964673C>G | CA367315106 | GLI3 | c.4400G>C (p.Cys1467Ser) c.4226G>C (p.Cys1409Ser) n.4377G>C c.4223G>C (p.Cys1408Ser) c.4397G>C (p.Cys1466Ser) | |
7 | g.41964673C>T | CA367315107 | GLI3 | c.4400G>A (p.Cys1467Tyr) c.4226G>A (p.Cys1409Tyr) n.4377G>A c.4223G>A (p.Cys1408Tyr) c.4397G>A (p.Cys1466Tyr) | dbSNP |
7 | g.41964674A>C | CA367315109 | GLI3 | c.4399T>G (p.Cys1467Gly) c.4225T>G (p.Cys1409Gly) n.4376T>G c.4222T>G (p.Cys1408Gly) c.4396T>G (p.Cys1466Gly) | |
7 | g.41964674A>G | CA367315110 | GLI3 | c.4399T>C (p.Cys1467Arg) c.4225T>C (p.Cys1409Arg) n.4376T>C c.4222T>C (p.Cys1408Arg) c.4396T>C (p.Cys1466Arg) | |
7 | g.41964674A>T | CA367315108 | GLI3 | c.4399T>A (p.Cys1467Ser) c.4225T>A (p.Cys1409Ser) n.4376T>A c.4222T>A (p.Cys1408Ser) c.4396T>A (p.Cys1466Ser) | |
7 | g.41964675G>A | CA454657410 | GLI3 | c.4398C>T (p.Ser1466=) c.4224C>T (p.Ser1408=) n.4375C>T c.4221C>T (p.Ser1407=) c.4395C>T (p.Ser1465=) | |
7 | g.41964675G>C | CA367315111 | GLI3 | c.4398C>G (p.Ser1466Arg) c.4224C>G (p.Ser1408Arg) n.4375C>G c.4221C>G (p.Ser1407Arg) c.4395C>G (p.Ser1465Arg) | |
7 | g.41964675G>T | CA367315112 | GLI3 | c.4398C>A (p.Ser1466Arg) c.4224C>A (p.Ser1408Arg) n.4375C>A c.4221C>A (p.Ser1407Arg) c.4395C>A (p.Ser1465Arg) | |
7 | g.41964676C>A | CA367315113 | GLI3 | c.4397G>T (p.Ser1466Ile) c.4223G>T (p.Ser1408Ile) n.4374G>T c.4220G>T (p.Ser1407Ile) c.4394G>T (p.Ser1465Ile) | |
7 | g.41964676C= | CA1702660383 | GLI3 | c.4397G= (p.Ser1466=) c.4223G= (p.Ser1408=) n.4374G= c.4220G= (p.Ser1407=) c.4394G= (p.Ser1465=) | |
7 | g.41964676C>G | CA367315114 | GLI3 | c.4397G>C (p.Ser1466Thr) c.4223G>C (p.Ser1408Thr) n.4374G>C c.4220G>C (p.Ser1407Thr) c.4394G>C (p.Ser1465Thr) | dbSNP gnomAD v2 |
7 | g.41964676C>T | CA4230138 | GLI3 | c.4397G>A (p.Ser1466Asn) c.4223G>A (p.Ser1408Asn) n.4374G>A c.4220G>A (p.Ser1407Asn) c.4394G>A (p.Ser1465Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41964677T>A | CA367315115 | GLI3 | c.4396A>T (p.Ser1466Cys) c.4222A>T (p.Ser1408Cys) n.4373A>T c.4219A>T (p.Ser1407Cys) c.4393A>T (p.Ser1465Cys) | |
7 | g.41964677T>C | CA367315116 | GLI3 | c.4396A>G (p.Ser1466Gly) c.4222A>G (p.Ser1408Gly) n.4373A>G c.4219A>G (p.Ser1407Gly) c.4393A>G (p.Ser1465Gly) | |
7 | g.41964677T>G | CA367315117 | GLI3 | c.4396A>C (p.Ser1466Arg) c.4222A>C (p.Ser1408Arg) n.4373A>C c.4219A>C (p.Ser1407Arg) c.4393A>C (p.Ser1465Arg) | |
7 | g.41964677_41964678delinsTG | CA1702660384 | GLI3 | c.4395_4396delinsCA (p.Ala1465=) c.4221_4222delinsCA (p.Ala1407=) n.4372_4373delinsCA c.4218_4219delinsCA (p.Ala1406=) c.4392_4393delinsCA (p.Ala1464=) | |
7 | g.41964678G>A | CA454657411 | GLI3 | c.4395C>T (p.Ala1465=) c.4221C>T (p.Ala1407=) n.4372C>T c.4218C>T (p.Ala1406=) c.4392C>T (p.Ala1464=) | |
7 | g.41964678G>C | CA454657412 | GLI3 | c.4395C>G (p.Ala1465=) c.4221C>G (p.Ala1407=) n.4372C>G c.4218C>G (p.Ala1406=) c.4392C>G (p.Ala1464=) | |
7 | g.41964678G>T | CA454657413 | GLI3 | c.4395C>A (p.Ala1465=) c.4221C>A (p.Ala1407=) n.4372C>A c.4218C>A (p.Ala1406=) c.4392C>A (p.Ala1464=) | |
7 | g.41964679del | CA658657668 | GLI3 | c.4395del (p.Ser1466AlafsTer22) c.4221del (p.Ser1408AlafsTer22) n.4372del c.4218del (p.Ser1407AlafsTer22) c.4392del (p.Ser1465AlafsTer22) | ClinVar dbSNP |
7 | g.41964679G>A | CA367315118 | GLI3 | c.4394C>T (p.Ala1465Val) c.4220C>T (p.Ala1407Val) n.4371C>T c.4217C>T (p.Ala1406Val) c.4391C>T (p.Ala1464Val) | |
7 | g.41964679G>C | CA367315119 | GLI3 | c.4394C>G (p.Ala1465Gly) c.4220C>G (p.Ala1407Gly) n.4371C>G c.4217C>G (p.Ala1406Gly) c.4391C>G (p.Ala1464Gly) | |
7 | g.41964679G>T | CA367315120 | GLI3 | c.4394C>A (p.Ala1465Asp) c.4220C>A (p.Ala1407Asp) n.4371C>A c.4217C>A (p.Ala1406Asp) c.4391C>A (p.Ala1464Asp) | |
7 | g.41964680C>A | CA367315121 | GLI3 | c.4393G>T (p.Ala1465Ser) c.4219G>T (p.Ala1407Ser) n.4370G>T c.4216G>T (p.Ala1406Ser) c.4390G>T (p.Ala1464Ser) | gnomAD v4 |
7 | g.41964680C= | CA1702660385 | GLI3 | c.4393G= (p.Ala1465=) c.4219G= (p.Ala1407=) n.4370G= c.4216G= (p.Ala1406=) c.4390G= (p.Ala1464=) | |
7 | g.41964680C>G | CA367315122 | GLI3 | c.4393G>C (p.Ala1465Pro) c.4219G>C (p.Ala1407Pro) n.4370G>C c.4216G>C (p.Ala1406Pro) c.4390G>C (p.Ala1464Pro) | |
7 | g.41964680C>T | CA367315123 | GLI3 | c.4393G>A (p.Ala1465Thr) c.4219G>A (p.Ala1407Thr) n.4370G>A c.4216G>A (p.Ala1406Thr) c.4390G>A (p.Ala1464Thr) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.41964681G>A | CA4230139 | GLI3 | c.4392C>T (p.Asp1464=) c.4218C>T (p.Asp1406=) n.4369C>T c.4215C>T (p.Asp1405=) c.4389C>T (p.Asp1463=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.41964681G>C | CA367315124 | GLI3 | c.4392C>G (p.Asp1464Glu) c.4218C>G (p.Asp1406Glu) n.4369C>G c.4215C>G (p.Asp1405Glu) c.4389C>G (p.Asp1463Glu) | |
7 | g.41964681G= | CA1702660386 | GLI3 | c.4392C= (p.Asp1464=) c.4218C= (p.Asp1406=) n.4369C= c.4215C= (p.Asp1405=) c.4389C= (p.Asp1463=) | |
7 | g.41964681G>T | CA367315125 | GLI3 | c.4392C>A (p.Asp1464Glu) c.4218C>A (p.Asp1406Glu) n.4369C>A c.4215C>A (p.Asp1405Glu) c.4389C>A (p.Asp1463Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41964682T>A | CA367315128 | GLI3 | c.4391A>T (p.Asp1464Val) c.4217A>T (p.Asp1406Val) n.4368A>T c.4214A>T (p.Asp1405Val) c.4388A>T (p.Asp1463Val) | |
7 | g.41964682T>C | CA367315126 | GLI3 | c.4391A>G (p.Asp1464Gly) c.4217A>G (p.Asp1406Gly) n.4368A>G c.4214A>G (p.Asp1405Gly) c.4388A>G (p.Asp1463Gly) | gnomAD v4 |
7 | g.41964682T>G | CA367315127 | GLI3 | c.4391A>C (p.Asp1464Ala) c.4217A>C (p.Asp1406Ala) n.4368A>C c.4214A>C (p.Asp1405Ala) c.4388A>C (p.Asp1463Ala) | |
7 | g.41964683C>A | CA367315129 | GLI3 | c.4390G>T (p.Asp1464Tyr) c.4216G>T (p.Asp1406Tyr) n.4367G>T c.4213G>T (p.Asp1405Tyr) c.4387G>T (p.Asp1463Tyr) | |
7 | g.41964683C>G | CA367315130 | GLI3 | c.4390G>C (p.Asp1464His) c.4216G>C (p.Asp1406His) n.4367G>C c.4213G>C (p.Asp1405His) c.4387G>C (p.Asp1463His) | gnomAD v4 |
7 | g.41964683C>T | CA367315131 | GLI3 | c.4390G>A (p.Asp1464Asn) c.4216G>A (p.Asp1406Asn) n.4367G>A c.4213G>A (p.Asp1405Asn) c.4387G>A (p.Asp1463Asn) | |
7 | g.41964684T>A | CA454657416 | GLI3 | c.4389A>T (p.Ser1463=) c.4215A>T (p.Ser1405=) n.4366A>T c.4212A>T (p.Ser1404=) c.4386A>T (p.Ser1462=) | |
7 | g.41964684T>C | CA454657417 | GLI3 | c.4389A>G (p.Ser1463=) c.4215A>G (p.Ser1405=) n.4366A>G c.4212A>G (p.Ser1404=) c.4386A>G (p.Ser1462=) | |
7 | g.41964684T>G | CA454657415 | GLI3 | c.4389A>C (p.Ser1463=) c.4215A>C (p.Ser1405=) n.4366A>C c.4212A>C (p.Ser1404=) c.4386A>C (p.Ser1462=) | |
7 | g.41964685G>A | CA367315132 | GLI3 | c.4388C>T (p.Ser1463Leu) c.4214C>T (p.Ser1405Leu) n.4365C>T c.4211C>T (p.Ser1404Leu) c.4385C>T (p.Ser1462Leu) | |
7 | g.41964685G>C | CA367315133 | GLI3 | c.4388C>G (p.Ser1463Ter) c.4214C>G (p.Ser1405Ter) n.4365C>G c.4211C>G (p.Ser1404Ter) c.4385C>G (p.Ser1462Ter) | |
7 | g.41964685G>T | CA367315134 | GLI3 | c.4388C>A (p.Ser1463Ter) c.4214C>A (p.Ser1405Ter) n.4365C>A c.4211C>A (p.Ser1404Ter) c.4385C>A (p.Ser1462Ter) | |
7 | g.41964686A>C | CA367315135 | GLI3 | c.4387T>G (p.Ser1463Ala) c.4213T>G (p.Ser1405Ala) n.4364T>G c.4210T>G (p.Ser1404Ala) c.4384T>G (p.Ser1462Ala) | |
7 | g.41964686A>G | CA367315136 | GLI3 | c.4387T>C (p.Ser1463Pro) c.4213T>C (p.Ser1405Pro) n.4364T>C c.4210T>C (p.Ser1404Pro) c.4384T>C (p.Ser1462Pro) | |
7 | g.41964686A>T | CA367315137 | GLI3 | c.4387T>A (p.Ser1463Thr) c.4213T>A (p.Ser1405Thr) n.4364T>A c.4210T>A (p.Ser1404Thr) c.4384T>A (p.Ser1462Thr) | |
7 | g.41964686_41964690del | CA2499218881 | GLI3 | c.4383_4387del (p.Ile1462ArgfsTer15) c.4209_4213del (p.Ile1404ArgfsTer15) n.4360_4364del c.4206_4210del (p.Ile1403ArgfsTer15) c.4380_4384del (p.Ile1461ArgfsTer15) | ClinVar dbSNP |
7 | g.41964687A>C | CA367315138 | GLI3 | c.4386T>G (p.Ile1462Met) c.4212T>G (p.Ile1404Met) n.4363T>G c.4209T>G (p.Ile1403Met) c.4383T>G (p.Ile1461Met) | |
7 | g.41964687A>G | CA454657419 | GLI3 | c.4386T>C (p.Ile1462=) c.4212T>C (p.Ile1404=) n.4363T>C c.4209T>C (p.Ile1403=) c.4383T>C (p.Ile1461=) | COSMIC |
7 | g.41964687A>T | CA454657418 | GLI3 | c.4386T>A (p.Ile1462=) c.4212T>A (p.Ile1404=) n.4363T>A c.4209T>A (p.Ile1403=) c.4383T>A (p.Ile1461=) | |
7 | g.41964688A= | CA1702660387 | GLI3 | c.4385T= (p.Ile1462=) c.4211T= (p.Ile1404=) n.4362T= c.4208T= (p.Ile1403=) c.4382T= (p.Ile1461=) | |
7 | g.41964688A>C | CA367315140 | GLI3 | c.4385T>G (p.Ile1462Ser) c.4211T>G (p.Ile1404Ser) n.4362T>G c.4208T>G (p.Ile1403Ser) c.4382T>G (p.Ile1461Ser) | |
7 | g.41964688A>G | CA4230140 | GLI3 | c.4385T>C (p.Ile1462Thr) c.4211T>C (p.Ile1404Thr) n.4362T>C c.4208T>C (p.Ile1403Thr) c.4382T>C (p.Ile1461Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41964688A>T | CA367315139 | GLI3 | c.4385T>A (p.Ile1462Asn) c.4211T>A (p.Ile1404Asn) n.4362T>A c.4208T>A (p.Ile1403Asn) c.4382T>A (p.Ile1461Asn) | |
7 | g.41964689T>A | CA367315141 | GLI3 | c.4384A>T (p.Ile1462Phe) c.4210A>T (p.Ile1404Phe) n.4361A>T c.4207A>T (p.Ile1403Phe) c.4381A>T (p.Ile1461Phe) | |
7 | g.41964689T>C | CA156902142 | GLI3 | c.4384A>G (p.Ile1462Val) c.4210A>G (p.Ile1404Val) n.4361A>G c.4207A>G (p.Ile1403Val) c.4381A>G (p.Ile1461Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41964689T>G | CA367315142 | GLI3 | c.4384A>C (p.Ile1462Leu) c.4210A>C (p.Ile1404Leu) n.4361A>C c.4207A>C (p.Ile1403Leu) c.4381A>C (p.Ile1461Leu) | gnomAD v4 |
7 | g.41964689T= | CA1702660388 | GLI3 | c.4384A= (p.Ile1462=) c.4210A= (p.Ile1404=) n.4361A= c.4207A= (p.Ile1403=) c.4381A= (p.Ile1461=) | |
7 | g.41964690A>C | CA454657420 | GLI3 | c.4383T>G (p.Ser1461=) c.4209T>G (p.Ser1403=) n.4360T>G c.4206T>G (p.Ser1402=) c.4380T>G (p.Ser1460=) | |
7 | g.41964690A>G | CA454657422 | GLI3 | c.4383T>C (p.Ser1461=) c.4209T>C (p.Ser1403=) n.4360T>C c.4206T>C (p.Ser1402=) c.4380T>C (p.Ser1460=) | |
7 | g.41964690A>T | CA454657421 | GLI3 | c.4383T>A (p.Ser1461=) c.4209T>A (p.Ser1403=) n.4360T>A c.4206T>A (p.Ser1402=) c.4380T>A (p.Ser1460=) | |
7 | g.41964691G>A | CA4230141 | GLI3 | c.4382C>T (p.Ser1461Phe) c.4208C>T (p.Ser1403Phe) n.4359C>T c.4205C>T (p.Ser1402Phe) c.4379C>T (p.Ser1460Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41964691G>C | CA367315143 | GLI3 | c.4382C>G (p.Ser1461Cys) c.4208C>G (p.Ser1403Cys) n.4359C>G c.4205C>G (p.Ser1402Cys) c.4379C>G (p.Ser1460Cys) | gnomAD v4 |
7 | g.41964691G= | CA1702660389 | GLI3 | c.4382C= (p.Ser1461=) c.4208C= (p.Ser1403=) n.4359C= c.4205C= (p.Ser1402=) c.4379C= (p.Ser1460=) | |
7 | g.41964691G>T | CA367315144 | GLI3 | c.4382C>A (p.Ser1461Tyr) c.4208C>A (p.Ser1403Tyr) n.4359C>A c.4205C>A (p.Ser1402Tyr) c.4379C>A (p.Ser1460Tyr) | COSMIC |
7 | g.41964692A>C | CA367315145 | GLI3 | c.4381T>G (p.Ser1461Ala) c.4207T>G (p.Ser1403Ala) n.4358T>G c.4204T>G (p.Ser1402Ala) c.4378T>G (p.Ser1460Ala) | |
7 | g.41964692A>G | CA367315146 | GLI3 | c.4381T>C (p.Ser1461Pro) c.4207T>C (p.Ser1403Pro) n.4358T>C c.4204T>C (p.Ser1402Pro) c.4378T>C (p.Ser1460Pro) | |
7 | g.41964692A>T | CA367315147 | GLI3 | c.4381T>A (p.Ser1461Thr) c.4207T>A (p.Ser1403Thr) n.4358T>A c.4204T>A (p.Ser1402Thr) c.4378T>A (p.Ser1460Thr) | |
7 | g.41964693G>A | CA4230142 | GLI3 | c.4380C>T (p.Phe1460=) c.4206C>T (p.Phe1402=) n.4357C>T c.4203C>T (p.Phe1401=) c.4377C>T (p.Phe1459=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.41964693G>C | CA367315148 | GLI3 | c.4380C>G (p.Phe1460Leu) c.4206C>G (p.Phe1402Leu) n.4357C>G c.4203C>G (p.Phe1401Leu) c.4377C>G (p.Phe1459Leu) | |
7 | g.41964693G= | CA1702660390 | GLI3 | c.4380C= (p.Phe1460=) c.4206C= (p.Phe1402=) n.4357C= c.4203C= (p.Phe1401=) c.4377C= (p.Phe1459=) | |
7 | g.41964693G>T | CA367315149 | GLI3 | c.4380C>A (p.Phe1460Leu) c.4206C>A (p.Phe1402Leu) n.4357C>A c.4203C>A (p.Phe1401Leu) c.4377C>A (p.Phe1459Leu) | |
7 | g.41964694A>C | CA367315152 | GLI3 | c.4379T>G (p.Phe1460Cys) c.4205T>G (p.Phe1402Cys) n.4356T>G c.4202T>G (p.Phe1401Cys) c.4376T>G (p.Phe1459Cys) | |
7 | g.41964694A>G | CA367315151 | GLI3 | c.4379T>C (p.Phe1460Ser) c.4205T>C (p.Phe1402Ser) n.4356T>C c.4202T>C (p.Phe1401Ser) c.4376T>C (p.Phe1459Ser) | |
7 | g.41964694A>T | CA367315150 | GLI3 | c.4379T>A (p.Phe1460Tyr) c.4205T>A (p.Phe1402Tyr) n.4356T>A c.4202T>A (p.Phe1401Tyr) c.4376T>A (p.Phe1459Tyr) | |
7 | g.41964695A>C | CA367315153 | GLI3 | c.4378T>G (p.Phe1460Val) c.4204T>G (p.Phe1402Val) n.4355T>G c.4201T>G (p.Phe1401Val) c.4375T>G (p.Phe1459Val) | |
7 | g.41964695A>G | CA367315154 | GLI3 | c.4378T>C (p.Phe1460Leu) c.4204T>C (p.Phe1402Leu) n.4355T>C c.4201T>C (p.Phe1401Leu) c.4375T>C (p.Phe1459Leu) | |
7 | g.41964695A>T | CA367315155 | GLI3 | c.4378T>A (p.Phe1460Ile) c.4204T>A (p.Phe1402Ile) n.4355T>A c.4201T>A (p.Phe1401Ile) c.4375T>A (p.Phe1459Ile) | |
7 | g.41964696T>A | CA454657423 | GLI3 | c.4377A>T (p.Ser1459=) c.4203A>T (p.Ser1401=) n.4354A>T c.4200A>T (p.Ser1400=) c.4374A>T (p.Ser1458=) | |
7 | g.41964696T>C | CA454657424 | GLI3 | c.4377A>G (p.Ser1459=) c.4203A>G (p.Ser1401=) n.4354A>G c.4200A>G (p.Ser1400=) c.4374A>G (p.Ser1458=) | gnomAD v4 |
7 | g.41964696T>G | CA454657425 | GLI3 | c.4377A>C (p.Ser1459=) c.4203A>C (p.Ser1401=) n.4354A>C c.4200A>C (p.Ser1400=) c.4374A>C (p.Ser1458=) | |
7 | g.41964697G>A | CA367315156 | GLI3 | c.4376C>T (p.Ser1459Leu) c.4202C>T (p.Ser1401Leu) n.4353C>T c.4199C>T (p.Ser1400Leu) c.4373C>T (p.Ser1458Leu) | dbSNP |
7 | g.41964697G>C | CA367315157 | GLI3 | c.4376C>G (p.Ser1459Ter) c.4202C>G (p.Ser1401Ter) n.4353C>G c.4199C>G (p.Ser1400Ter) c.4373C>G (p.Ser1458Ter) | |
7 | g.41964697G= | CA1702660391 | GLI3 | c.4376C= (p.Ser1459=) c.4202C= (p.Ser1401=) n.4353C= c.4199C= (p.Ser1400=) c.4373C= (p.Ser1458=) | |
7 | g.41964697G>T | CA367315158 | GLI3 | c.4376C>A (p.Ser1459Ter) c.4202C>A (p.Ser1401Ter) n.4353C>A c.4199C>A (p.Ser1400Ter) c.4373C>A (p.Ser1458Ter) | |
7 | g.41964698A>C | CA367315159 | GLI3 | c.4375T>G (p.Ser1459Ala) c.4201T>G (p.Ser1401Ala) n.4352T>G c.4198T>G (p.Ser1400Ala) c.4372T>G (p.Ser1458Ala) | |
7 | g.41964698A>G | CA367315160 | GLI3 | c.4375T>C (p.Ser1459Pro) c.4201T>C (p.Ser1401Pro) n.4352T>C c.4198T>C (p.Ser1400Pro) c.4372T>C (p.Ser1458Pro) | |
7 | g.41964698A>T | CA367315161 | GLI3 | c.4375T>A (p.Ser1459Thr) c.4201T>A (p.Ser1401Thr) n.4352T>A c.4198T>A (p.Ser1400Thr) c.4372T>A (p.Ser1458Thr) | gnomAD v4 |
7 | g.41964699A= | CA1702660392 | GLI3 | c.4374T= (p.Gly1458=) c.4200T= (p.Gly1400=) n.4351T= c.4197T= (p.Gly1399=) c.4371T= (p.Gly1457=) | |
7 | g.41964699A>C | CA454657426 | GLI3 | c.4374T>G (p.Gly1458=) c.4200T>G (p.Gly1400=) n.4351T>G c.4197T>G (p.Gly1399=) c.4371T>G (p.Gly1457=) | |
7 | g.41964699A>G | CA454657427 | GLI3 | c.4374T>C (p.Gly1458=) c.4200T>C (p.Gly1400=) n.4351T>C c.4197T>C (p.Gly1399=) c.4371T>C (p.Gly1457=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41964699A>T | CA454657428 | GLI3 | c.4374T>A (p.Gly1458=) c.4200T>A (p.Gly1400=) n.4351T>A c.4197T>A (p.Gly1399=) c.4371T>A (p.Gly1457=) | |
7 | g.41964700C>A | CA4230143 | GLI3 | c.4373G>T (p.Gly1458Val) c.4199G>T (p.Gly1400Val) n.4350G>T c.4196G>T (p.Gly1399Val) c.4370G>T (p.Gly1457Val) | dbSNP ExAC gnomAD v3 gnomAD v4 |
7 | g.41964700C= | CA1702660393 | GLI3 | c.4373G= (p.Gly1458=) c.4199G= (p.Gly1400=) n.4350G= c.4196G= (p.Gly1399=) c.4370G= (p.Gly1457=) | |
7 | g.41964700C>G | CA367315162 | GLI3 | c.4373G>C (p.Gly1458Ala) c.4199G>C (p.Gly1400Ala) n.4350G>C c.4196G>C (p.Gly1399Ala) c.4370G>C (p.Gly1457Ala) | gnomAD v4 |
7 | g.41964700C>T | CA367315163 | GLI3 | c.4373G>A (p.Gly1458Asp) c.4199G>A (p.Gly1400Asp) n.4350G>A c.4196G>A (p.Gly1399Asp) c.4370G>A (p.Gly1457Asp) | gnomAD v4 |
7 | g.41964701C>A | CA367315166 | GLI3 | c.4372G>T (p.Gly1458Cys) c.4198G>T (p.Gly1400Cys) n.4349G>T c.4195G>T (p.Gly1399Cys) c.4369G>T (p.Gly1457Cys) | COSMIC |
7 | g.41964701C>G | CA367315165 | GLI3 | c.4372G>C (p.Gly1458Arg) c.4198G>C (p.Gly1400Arg) n.4349G>C c.4195G>C (p.Gly1399Arg) c.4369G>C (p.Gly1457Arg) | |
7 | g.41964701C>T | CA367315164 | GLI3 | c.4372G>A (p.Gly1458Ser) c.4198G>A (p.Gly1400Ser) n.4349G>A c.4195G>A (p.Gly1399Ser) c.4369G>A (p.Gly1457Ser) | |
7 | g.41964702A>C | CA454657429 | GLI3 | c.4371T>G (p.Ala1457=) c.4197T>G (p.Ala1399=) n.4348T>G c.4194T>G (p.Ala1398=) c.4368T>G (p.Ala1456=) | |
7 | g.41964702A>G | CA454657430 | GLI3 | c.4371T>C (p.Ala1457=) c.4197T>C (p.Ala1399=) n.4348T>C c.4194T>C (p.Ala1398=) c.4368T>C (p.Ala1456=) | |
7 | g.41964702A>T | CA454657431 | GLI3 | c.4371T>A (p.Ala1457=) c.4197T>A (p.Ala1399=) n.4348T>A c.4194T>A (p.Ala1398=) c.4368T>A (p.Ala1456=) | |
7 | g.41964703G>A | CA4230144 | GLI3 | c.4370C>T (p.Ala1457Val) c.4196C>T (p.Ala1399Val) n.4347C>T c.4193C>T (p.Ala1398Val) c.4367C>T (p.Ala1456Val) | dbSNP ExAC gnomAD v3 gnomAD v4 |
7 | g.41964703G>C | CA367315168 | GLI3 | c.4370C>G (p.Ala1457Gly) c.4196C>G (p.Ala1399Gly) n.4347C>G c.4193C>G (p.Ala1398Gly) c.4367C>G (p.Ala1456Gly) | dbSNP |
7 | g.41964703G= | CA1702660394 | GLI3 | c.4370C= (p.Ala1457=) c.4196C= (p.Ala1399=) n.4347C= c.4193C= (p.Ala1398=) c.4367C= (p.Ala1456=) | |
7 | g.41964703G>T | CA367315167 | GLI3 | c.4370C>A (p.Ala1457Asp) c.4196C>A (p.Ala1399Asp) n.4347C>A c.4193C>A (p.Ala1398Asp) c.4367C>A (p.Ala1456Asp) | gnomAD v4 |
7 | g.41964703_41964704dup | CA2695207615 | GLI3 | c.4369_4370dup (p.Gly1458LeufsTer?) c.4195_4196dup (p.Gly1400LeufsTer?) n.4346_4347dup c.4192_4193dup (p.Gly1399LeufsTer?) c.4366_4367dup (p.Gly1457LeufsTer?) | |
7 | g.41964704C>A | CA367315169 | GLI3 | c.4369G>T (p.Ala1457Ser) c.4195G>T (p.Ala1399Ser) n.4346G>T c.4192G>T (p.Ala1398Ser) c.4366G>T (p.Ala1456Ser) | |
7 | g.41964704C= | CA1702660395 | GLI3 | c.4369G= (p.Ala1457=) c.4195G= (p.Ala1399=) n.4346G= c.4192G= (p.Ala1398=) c.4366G= (p.Ala1456=) | |
7 | g.41964704C>G | CA367315170 | GLI3 | c.4369G>C (p.Ala1457Pro) c.4195G>C (p.Ala1399Pro) n.4346G>C c.4192G>C (p.Ala1398Pro) c.4366G>C (p.Ala1456Pro) | |
7 | g.41964704C>T | CA367315171 | GLI3 | c.4369G>A (p.Ala1457Thr) c.4195G>A (p.Ala1399Thr) n.4346G>A c.4192G>A (p.Ala1398Thr) c.4366G>A (p.Ala1456Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41964705T>A | CA367315172 | GLI3 | c.4368A>T (p.Lys1456Asn) c.4194A>T (p.Lys1398Asn) n.4345A>T c.4191A>T (p.Lys1397Asn) c.4365A>T (p.Lys1455Asn) | |
7 | g.41964705T>C | CA454657432 | GLI3 | c.4368A>G (p.Lys1456=) c.4194A>G (p.Lys1398=) n.4345A>G c.4191A>G (p.Lys1397=) c.4365A>G (p.Lys1455=) | gnomAD v4 |
7 | g.41964705T>G | CA367315173 | GLI3 | c.4368A>C (p.Lys1456Asn) c.4194A>C (p.Lys1398Asn) n.4345A>C c.4191A>C (p.Lys1397Asn) c.4365A>C (p.Lys1455Asn) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41964705T= | CA1702660396 | GLI3 | c.4368A= (p.Lys1456=) c.4194A= (p.Lys1398=) n.4345A= c.4191A= (p.Lys1397=) c.4365A= (p.Lys1455=) | |
7 | g.41964706T>A | CA367315174 | GLI3 | c.4367A>T (p.Lys1456Ile) c.4193A>T (p.Lys1398Ile) n.4344A>T c.4190A>T (p.Lys1397Ile) c.4364A>T (p.Lys1455Ile) | |
7 | g.41964706T>C | CA367315175 | GLI3 | c.4367A>G (p.Lys1456Arg) c.4193A>G (p.Lys1398Arg) n.4344A>G c.4190A>G (p.Lys1397Arg) c.4364A>G (p.Lys1455Arg) | |
7 | g.41964706T>G | CA367315176 | GLI3 | c.4367A>C (p.Lys1456Thr) c.4193A>C (p.Lys1398Thr) n.4344A>C c.4190A>C (p.Lys1397Thr) c.4364A>C (p.Lys1455Thr) | |
7 | g.41964707T>A | CA367315177 | GLI3 | c.4366A>T (p.Lys1456Ter) c.4192A>T (p.Lys1398Ter) n.4343A>T c.4189A>T (p.Lys1397Ter) c.4363A>T (p.Lys1455Ter) | |
7 | g.41964707T>C | CA367315178 | GLI3 | c.4366A>G (p.Lys1456Glu) c.4192A>G (p.Lys1398Glu) n.4343A>G c.4189A>G (p.Lys1397Glu) c.4363A>G (p.Lys1455Glu) | |
7 | g.41964707T>G | CA367315179 | GLI3 | c.4366A>C (p.Lys1456Gln) c.4192A>C (p.Lys1398Gln) n.4343A>C c.4189A>C (p.Lys1397Gln) c.4363A>C (p.Lys1455Gln) | |
7 | g.41964708C>A | CA454657433 | GLI3 | c.4365G>T (p.Thr1455=) c.4191G>T (p.Thr1397=) n.4342G>T c.4188G>T (p.Thr1396=) c.4362G>T (p.Thr1454=) | |
7 | g.41964708C= | CA1702660397 | GLI3 | c.4365G= (p.Thr1455=) c.4191G= (p.Thr1397=) n.4342G= c.4188G= (p.Thr1396=) c.4362G= (p.Thr1454=) | |
7 | g.41964708C>G | CA454657434 | GLI3 | c.4365G>C (p.Thr1455=) c.4191G>C (p.Thr1397=) n.4342G>C c.4188G>C (p.Thr1396=) c.4362G>C (p.Thr1454=) | |
7 | g.41964708C>T | CA4230145 | GLI3 | c.4365G>A (p.Thr1455=) c.4191G>A (p.Thr1397=) n.4342G>A c.4188G>A (p.Thr1396=) c.4362G>A (p.Thr1454=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.41964709G>A | CA156902200 | GLI3 | c.4364C>T (p.Thr1455Met) c.4190C>T (p.Thr1397Met) n.4341C>T c.4187C>T (p.Thr1396Met) c.4361C>T (p.Thr1454Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41964709G>C | CA367315180 | GLI3 | c.4364C>G (p.Thr1455Arg) c.4190C>G (p.Thr1397Arg) n.4341C>G c.4187C>G (p.Thr1396Arg) c.4361C>G (p.Thr1454Arg) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41964709G= | CA1702660398 | GLI3 | c.4364C= (p.Thr1455=) c.4190C= (p.Thr1397=) n.4341C= c.4187C= (p.Thr1396=) c.4361C= (p.Thr1454=) | |
7 | g.41964709G>T | CA367315181 | GLI3 | c.4364C>A (p.Thr1455Lys) c.4190C>A (p.Thr1397Lys) n.4341C>A c.4187C>A (p.Thr1396Lys) c.4361C>A (p.Thr1454Lys) | |
7 | g.41964710T>A | CA367315182 | GLI3 | c.4363A>T (p.Thr1455Ser) c.4189A>T (p.Thr1397Ser) n.4340A>T c.4186A>T (p.Thr1396Ser) c.4360A>T (p.Thr1454Ser) | |
7 | g.41964710T>C | CA367315183 | GLI3 | c.4363A>G (p.Thr1455Ala) c.4189A>G (p.Thr1397Ala) n.4340A>G c.4186A>G (p.Thr1396Ala) c.4360A>G (p.Thr1454Ala) | |
7 | g.41964710T>G | CA367315184 | GLI3 | c.4363A>C (p.Thr1455Pro) c.4189A>C (p.Thr1397Pro) n.4340A>C c.4186A>C (p.Thr1396Pro) c.4360A>C (p.Thr1454Pro) | gnomAD v4 |
7 | g.41964711G>A | CA454657435 | GLI3 | c.4362C>T (p.Asp1454=) c.4188C>T (p.Asp1396=) n.4339C>T c.4185C>T (p.Asp1395=) c.4359C>T (p.Asp1453=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.41964711G>C | CA367315185 | GLI3 | c.4362C>G (p.Asp1454Glu) c.4188C>G (p.Asp1396Glu) n.4339C>G c.4185C>G (p.Asp1395Glu) c.4359C>G (p.Asp1453Glu) | |
7 | g.41964711G>T | CA367315186 | GLI3 | c.4362C>A (p.Asp1454Glu) c.4188C>A (p.Asp1396Glu) n.4339C>A c.4185C>A (p.Asp1395Glu) c.4359C>A (p.Asp1453Glu) | |
7 | g.41964712T>A | CA367315187 | GLI3 | c.4361A>T (p.Asp1454Val) c.4187A>T (p.Asp1396Val) n.4338A>T c.4184A>T (p.Asp1395Val) c.4358A>T (p.Asp1453Val) | |
7 | g.41964712T>C | CA367315188 | GLI3 | c.4361A>G (p.Asp1454Gly) c.4187A>G (p.Asp1396Gly) n.4338A>G c.4184A>G (p.Asp1395Gly) c.4358A>G (p.Asp1453Gly) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.41964712T>G | CA367315189 | GLI3 | c.4361A>C (p.Asp1454Ala) c.4187A>C (p.Asp1396Ala) n.4338A>C c.4184A>C (p.Asp1395Ala) c.4358A>C (p.Asp1453Ala) | |
7 | g.41964712T= | CA1702660399 | GLI3 | c.4361A= (p.Asp1454=) c.4187A= (p.Asp1396=) n.4338A= c.4184A= (p.Asp1395=) c.4358A= (p.Asp1453=) | |
7 | g.41964713C>A | CA367315190 | GLI3 | c.4360G>T (p.Asp1454Tyr) c.4186G>T (p.Asp1396Tyr) n.4337G>T c.4183G>T (p.Asp1395Tyr) c.4357G>T (p.Asp1453Tyr) | |
7 | g.41964713C>G | CA367315191 | GLI3 | c.4360G>C (p.Asp1454His) c.4186G>C (p.Asp1396His) n.4337G>C c.4183G>C (p.Asp1395His) c.4357G>C (p.Asp1453His) | |
7 | g.41964713C>T | CA367315192 | GLI3 | c.4360G>A (p.Asp1454Asn) c.4186G>A (p.Asp1396Asn) n.4337G>A c.4183G>A (p.Asp1395Asn) c.4357G>A (p.Asp1453Asn) | |
7 | g.41964714T>A | CA367315193 | GLI3 | c.4359A>T (p.Gln1453His) c.4185A>T (p.Gln1395His) n.4336A>T c.4182A>T (p.Gln1394His) c.4356A>T (p.Gln1452His) | |
7 | g.41964714T>C | CA454657436 | GLI3 | c.4359A>G (p.Gln1453=) c.4185A>G (p.Gln1395=) n.4336A>G c.4182A>G (p.Gln1394=) c.4356A>G (p.Gln1452=) | |
7 | g.41964714T>G | CA367315194 | GLI3 | c.4359A>C (p.Gln1453His) c.4185A>C (p.Gln1395His) n.4336A>C c.4182A>C (p.Gln1394His) c.4356A>C (p.Gln1452His) | |
7 | g.41964715del | CA2695207616 | GLI3 | c.4359del (p.Asp1454ThrfsTer?) c.4185del (p.Asp1396ThrfsTer?) n.4336del c.4182del (p.Asp1395ThrfsTer?) c.4356del (p.Asp1453ThrfsTer?) | |
7 | g.41964715T>A | CA367315195 | GLI3 | c.4358A>T (p.Gln1453Leu) c.4184A>T (p.Gln1395Leu) n.4335A>T c.4181A>T (p.Gln1394Leu) c.4355A>T (p.Gln1452Leu) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.41964715T>C | CA367315196 | GLI3 | c.4358A>G (p.Gln1453Arg) c.4184A>G (p.Gln1395Arg) n.4335A>G c.4181A>G (p.Gln1394Arg) c.4355A>G (p.Gln1452Arg) | |
7 | g.41964715T>G | CA367315197 | GLI3 | c.4358A>C (p.Gln1453Pro) c.4184A>C (p.Gln1395Pro) n.4335A>C c.4181A>C (p.Gln1394Pro) c.4355A>C (p.Gln1452Pro) | |
7 | g.41964715T= | CA1702660400 | GLI3 | c.4358A= (p.Gln1453=) c.4184A= (p.Gln1395=) n.4335A= c.4181A= (p.Gln1394=) c.4355A= (p.Gln1452=) | |
7 | g.41964716G>A | CA367315198 | GLI3 | c.4357C>T (p.Gln1453Ter) c.4183C>T (p.Gln1395Ter) n.4334C>T c.4180C>T (p.Gln1394Ter) c.4354C>T (p.Gln1452Ter) | |
7 | g.41964716G>C | CA367315199 | GLI3 | c.4357C>G (p.Gln1453Glu) c.4183C>G (p.Gln1395Glu) n.4334C>G c.4180C>G (p.Gln1394Glu) c.4354C>G (p.Gln1452Glu) | |
7 | g.41964716G>T | CA367315200 | GLI3 | c.4357C>A (p.Gln1453Lys) c.4183C>A (p.Gln1395Lys) n.4334C>A c.4180C>A (p.Gln1394Lys) c.4354C>A (p.Gln1452Lys) | |
7 | g.41964717C>A | CA367315201 | GLI3 | c.4356G>T (p.Gln1452His) c.4182G>T (p.Gln1394His) n.4333G>T c.4179G>T (p.Gln1393His) c.4353G>T (p.Gln1451His) | gnomAD v4 |
7 | g.41964717C= | CA1702660401 | GLI3 | c.4356G= (p.Gln1452=) c.4182G= (p.Gln1394=) n.4333G= c.4179G= (p.Gln1393=) c.4353G= (p.Gln1451=) | |
7 | g.41964717C>G | CA367315202 | GLI3 | c.4356G>C (p.Gln1452His) c.4182G>C (p.Gln1394His) n.4333G>C c.4179G>C (p.Gln1393His) c.4353G>C (p.Gln1451His) | |
7 | g.41964717C>T | CA4230146 | GLI3 | c.4356G>A (p.Gln1452=) c.4182G>A (p.Gln1394=) n.4333G>A c.4179G>A (p.Gln1393=) c.4353G>A (p.Gln1451=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41964718T>A | CA367315203 | GLI3 | c.4355A>T (p.Gln1452Leu) c.4181A>T (p.Gln1394Leu) n.4332A>T c.4178A>T (p.Gln1393Leu) c.4352A>T (p.Gln1451Leu) | |
7 | g.41964718T>C | CA367315204 | GLI3 | c.4355A>G (p.Gln1452Arg) c.4181A>G (p.Gln1394Arg) n.4332A>G c.4178A>G (p.Gln1393Arg) c.4352A>G (p.Gln1451Arg) | |
7 | g.41964718T>G | CA367315205 | GLI3 | c.4355A>C (p.Gln1452Pro) c.4181A>C (p.Gln1394Pro) n.4332A>C c.4178A>C (p.Gln1393Pro) c.4352A>C (p.Gln1451Pro) | |
7 | g.41964719G>A | CA367315208 | GLI3 | c.4354C>T (p.Gln1452Ter) c.4180C>T (p.Gln1394Ter) n.4331C>T c.4177C>T (p.Gln1393Ter) c.4351C>T (p.Gln1451Ter) | ClinVar |
7 | g.41964719G>C | CA367315207 | GLI3 | c.4354C>G (p.Gln1452Glu) c.4180C>G (p.Gln1394Glu) n.4331C>G c.4177C>G (p.Gln1393Glu) c.4351C>G (p.Gln1451Glu) | gnomAD v4 |
7 | g.41964719G>T | CA367315206 | GLI3 | c.4354C>A (p.Gln1452Lys) c.4180C>A (p.Gln1394Lys) n.4331C>A c.4177C>A (p.Gln1393Lys) c.4351C>A (p.Gln1451Lys) | |
7 | g.41964720A= | CA1702660402 | GLI3 | c.4353T= (p.Ser1451=) c.4179T= (p.Ser1393=) n.4330T= c.4176T= (p.Ser1392=) c.4350T= (p.Ser1450=) | |
7 | g.41964720A>C | CA4230147 | GLI3 | c.4353T>G (p.Ser1451Arg) c.4179T>G (p.Ser1393Arg) n.4330T>G c.4176T>G (p.Ser1392Arg) c.4350T>G (p.Ser1450Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41964720A>G | CA454657437 | GLI3 | c.4353T>C (p.Ser1451=) c.4179T>C (p.Ser1393=) n.4330T>C c.4176T>C (p.Ser1392=) c.4350T>C (p.Ser1450=) | |
7 | g.41964720A>T | CA367315209 | GLI3 | c.4353T>A (p.Ser1451Arg) c.4179T>A (p.Ser1393Arg) n.4330T>A c.4176T>A (p.Ser1392Arg) c.4350T>A (p.Ser1450Arg) | |
7 | g.41964721C>A | CA367315210 | GLI3 | c.4352G>T (p.Ser1451Ile) c.4178G>T (p.Ser1393Ile) n.4329G>T c.4175G>T (p.Ser1392Ile) c.4349G>T (p.Ser1450Ile) | dbSNP |
7 | g.41964721C= | CA1702660403 | GLI3 | c.4352G= (p.Ser1451=) c.4178G= (p.Ser1393=) n.4329G= c.4175G= (p.Ser1392=) c.4349G= (p.Ser1450=) | |
7 | g.41964721C>G | CA367315211 | GLI3 | c.4352G>C (p.Ser1451Thr) c.4178G>C (p.Ser1393Thr) n.4329G>C c.4175G>C (p.Ser1392Thr) c.4349G>C (p.Ser1450Thr) | |
7 | g.41964721C>T | CA4230148 | GLI3 | c.4352G>A (p.Ser1451Asn) c.4178G>A (p.Ser1393Asn) n.4329G>A c.4175G>A (p.Ser1392Asn) c.4349G>A (p.Ser1450Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41964722T>A | CA367315212 | GLI3 | c.4351A>T (p.Ser1451Cys) c.4177A>T (p.Ser1393Cys) n.4328A>T c.4174A>T (p.Ser1392Cys) c.4348A>T (p.Ser1450Cys) | gnomAD v4 |
7 | g.41964722T>C | CA367315213 | GLI3 | c.4351A>G (p.Ser1451Gly) c.4177A>G (p.Ser1393Gly) n.4328A>G c.4174A>G (p.Ser1392Gly) c.4348A>G (p.Ser1450Gly) | gnomAD v4 |
7 | g.41964722T>G | CA367315214 | GLI3 | c.4351A>C (p.Ser1451Arg) c.4177A>C (p.Ser1393Arg) n.4328A>C c.4174A>C (p.Ser1392Arg) c.4348A>C (p.Ser1450Arg) | |
7 | g.41964723G>A | CA454657438 | GLI3 | c.4350C>T (p.Phe1450=) c.4176C>T (p.Phe1392=) n.4327C>T c.4173C>T (p.Phe1391=) c.4347C>T (p.Phe1449=) | |
7 | g.41964723G>C | CA367315215 | GLI3 | c.4350C>G (p.Phe1450Leu) c.4176C>G (p.Phe1392Leu) n.4327C>G c.4173C>G (p.Phe1391Leu) c.4347C>G (p.Phe1449Leu) | |
7 | g.41964723G>T | CA367315216 | GLI3 | c.4350C>A (p.Phe1450Leu) c.4176C>A (p.Phe1392Leu) n.4327C>A c.4173C>A (p.Phe1391Leu) c.4347C>A (p.Phe1449Leu) | |
7 | g.41964724A= | CA1702660404 | GLI3 | c.4349T= (p.Phe1450=) c.4175T= (p.Phe1392=) n.4326T= c.4172T= (p.Phe1391=) c.4346T= (p.Phe1449=) | |
7 | g.41964724A>C | CA10604067 | GLI3 | c.4349T>G (p.Phe1450Cys) c.4175T>G (p.Phe1392Cys) n.4326T>G c.4172T>G (p.Phe1391Cys) c.4346T>G (p.Phe1449Cys) | ClinVar dbSNP |
7 | g.41964724A>G | CA367315217 | GLI3 | c.4349T>C (p.Phe1450Ser) c.4175T>C (p.Phe1392Ser) n.4326T>C c.4172T>C (p.Phe1391Ser) c.4346T>C (p.Phe1449Ser) | |
7 | g.41964724A>T | CA367315218 | GLI3 | c.4349T>A (p.Phe1450Tyr) c.4175T>A (p.Phe1392Tyr) n.4326T>A c.4172T>A (p.Phe1391Tyr) c.4346T>A (p.Phe1449Tyr) |