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.41964528G>A | CA454656269 | GLI3 | c.4545C>T (p.His1515=) c.4371C>T (p.His1457=) n.4522C>T c.4368C>T (p.His1456=) c.4542C>T (p.His1514=) | gnomAD v4 |
7 | g.41964528G>C | CA367314788 | GLI3 | c.4545C>G (p.His1515Gln) c.4371C>G (p.His1457Gln) n.4522C>G c.4368C>G (p.His1456Gln) c.4542C>G (p.His1514Gln) | |
7 | g.41964528G>T | CA367314789 | GLI3 | c.4545C>A (p.His1515Gln) c.4371C>A (p.His1457Gln) n.4522C>A c.4368C>A (p.His1456Gln) c.4542C>A (p.His1514Gln) | |
7 | g.41964528_41964531del | CA2580077125 | GLI3 | c.4542_4545del (p.His1515ProfsTer3) c.4368_4371del (p.His1457ProfsTer3) n.4519_4522del c.4365_4368del (p.His1456ProfsTer3) c.4539_4542del (p.His1514ProfsTer3) | ClinVar dbSNP |
7 | g.41964529T>A | CA367314792 | GLI3 | c.4544A>T (p.His1515Leu) c.4370A>T (p.His1457Leu) n.4521A>T c.4367A>T (p.His1456Leu) c.4541A>T (p.His1514Leu) | |
7 | g.41964529T>C | CA367314791 | GLI3 | c.4544A>G (p.His1515Arg) c.4370A>G (p.His1457Arg) n.4521A>G c.4367A>G (p.His1456Arg) c.4541A>G (p.His1514Arg) | |
7 | g.41964529T>G | CA367314790 | GLI3 | c.4544A>C (p.His1515Pro) c.4370A>C (p.His1457Pro) n.4521A>C c.4367A>C (p.His1456Pro) c.4541A>C (p.His1514Pro) | |
7 | g.41964530G>A | CA367314795 | GLI3 | c.4543C>T (p.His1515Tyr) c.4369C>T (p.His1457Tyr) n.4520C>T c.4366C>T (p.His1456Tyr) c.4540C>T (p.His1514Tyr) | |
7 | g.41964530G>C | CA367314793 | GLI3 | c.4543C>G (p.His1515Asp) c.4369C>G (p.His1457Asp) n.4520C>G c.4366C>G (p.His1456Asp) c.4540C>G (p.His1514Asp) | |
7 | g.41964530G>T | CA367314794 | GLI3 | c.4543C>A (p.His1515Asn) c.4369C>A (p.His1457Asn) n.4520C>A c.4366C>A (p.His1456Asn) c.4540C>A (p.His1514Asn) | ClinVar dbSNP gnomAD v4 |
7 | g.41964531G>A | CA454657059 | GLI3 | c.4542C>T (p.Asp1514=) c.4368C>T (p.Asp1456=) n.4519C>T c.4365C>T (p.Asp1455=) c.4539C>T (p.Asp1513=) | |
7 | g.41964531G>C | CA367314796 | GLI3 | c.4542C>G (p.Asp1514Glu) c.4368C>G (p.Asp1456Glu) n.4519C>G c.4365C>G (p.Asp1455Glu) c.4539C>G (p.Asp1513Glu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41964531G= | CA1702660322 | GLI3 | c.4542C= (p.Asp1514=) c.4368C= (p.Asp1456=) n.4519C= c.4365C= (p.Asp1455=) c.4539C= (p.Asp1513=) | |
7 | g.41964531G>T | CA367314797 | GLI3 | c.4542C>A (p.Asp1514Glu) c.4368C>A (p.Asp1456Glu) n.4519C>A c.4365C>A (p.Asp1455Glu) c.4539C>A (p.Asp1513Glu) | |
7 | g.41964532T>A | CA367314798 | GLI3 | c.4541A>T (p.Asp1514Val) c.4367A>T (p.Asp1456Val) n.4518A>T c.4364A>T (p.Asp1455Val) c.4538A>T (p.Asp1513Val) | |
7 | g.41964532T>C | CA367314799 | GLI3 | c.4541A>G (p.Asp1514Gly) c.4367A>G (p.Asp1456Gly) n.4518A>G c.4364A>G (p.Asp1455Gly) c.4538A>G (p.Asp1513Gly) | |
7 | g.41964532T>G | CA367314800 | GLI3 | c.4541A>C (p.Asp1514Ala) c.4367A>C (p.Asp1456Ala) n.4518A>C c.4364A>C (p.Asp1455Ala) c.4538A>C (p.Asp1513Ala) | |
7 | g.41964533C>A | CA367314801 | GLI3 | c.4540G>T (p.Asp1514Tyr) c.4366G>T (p.Asp1456Tyr) n.4517G>T c.4363G>T (p.Asp1455Tyr) c.4537G>T (p.Asp1513Tyr) | gnomAD v4 |
7 | g.41964533C>G | CA367314802 | GLI3 | c.4540G>C (p.Asp1514His) c.4366G>C (p.Asp1456His) n.4517G>C c.4363G>C (p.Asp1455His) c.4537G>C (p.Asp1513His) | |
7 | g.41964533C>T | CA367314803 | GLI3 | c.4540G>A (p.Asp1514Asn) c.4366G>A (p.Asp1456Asn) n.4517G>A c.4363G>A (p.Asp1455Asn) c.4537G>A (p.Asp1513Asn) | gnomAD v4 COSMIC |
7 | g.41964536del | CA2695207611 | GLI3 | c.4540del (p.Asp1514ThrfsTer5) c.4366del (p.Asp1456ThrfsTer5) n.4517del c.4363del (p.Asp1455ThrfsTer5) c.4537del (p.Asp1513ThrfsTer5) | |
7 | g.41964534C>A | CA454657072 | GLI3 | c.4539G>T (p.Gly1513=) c.4365G>T (p.Gly1455=) n.4516G>T c.4362G>T (p.Gly1454=) c.4536G>T (p.Gly1512=) | |
7 | g.41964534C>G | CA454657073 | GLI3 | c.4539G>C (p.Gly1513=) c.4365G>C (p.Gly1455=) n.4516G>C c.4362G>C (p.Gly1454=) c.4536G>C (p.Gly1512=) | |
7 | g.41964534C>T | CA454657075 | GLI3 | c.4539G>A (p.Gly1513=) c.4365G>A (p.Gly1455=) n.4516G>A c.4362G>A (p.Gly1454=) c.4536G>A (p.Gly1512=) | |
7 | g.41964535C>A | CA4230114 | GLI3 | c.4538G>T (p.Gly1513Val) c.4364G>T (p.Gly1455Val) n.4515G>T c.4361G>T (p.Gly1454Val) c.4535G>T (p.Gly1512Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41964535C= | CA1702660323 | GLI3 | c.4538G= (p.Gly1513=) c.4364G= (p.Gly1455=) n.4515G= c.4361G= (p.Gly1454=) c.4535G= (p.Gly1512=) | |
7 | g.41964535C>G | CA367314804 | GLI3 | c.4538G>C (p.Gly1513Ala) c.4364G>C (p.Gly1455Ala) n.4515G>C c.4361G>C (p.Gly1454Ala) c.4535G>C (p.Gly1512Ala) | |
7 | g.41964535C>T | CA367314805 | GLI3 | c.4538G>A (p.Gly1513Glu) c.4364G>A (p.Gly1455Glu) n.4515G>A c.4361G>A (p.Gly1454Glu) c.4535G>A (p.Gly1512Glu) | |
7 | g.41964536C>A | CA367314808 | GLI3 | c.4537G>T (p.Gly1513Trp) c.4363G>T (p.Gly1455Trp) n.4514G>T c.4360G>T (p.Gly1454Trp) c.4534G>T (p.Gly1512Trp) | |
7 | g.41964536C>G | CA367314806 | GLI3 | c.4537G>C (p.Gly1513Arg) c.4363G>C (p.Gly1455Arg) n.4514G>C c.4360G>C (p.Gly1454Arg) c.4534G>C (p.Gly1512Arg) | |
7 | g.41964536C>T | CA367314807 | GLI3 | c.4537G>A (p.Gly1513Arg) c.4363G>A (p.Gly1455Arg) n.4514G>A c.4360G>A (p.Gly1454Arg) c.4534G>A (p.Gly1512Arg) | |
7 | g.41964537A= | CA1702660324 | GLI3 | c.4536T= (p.Asp1512=) c.4362T= (p.Asp1454=) n.4513T= c.4359T= (p.Asp1453=) c.4533T= (p.Asp1511=) | |
7 | g.41964537A>C | CA367314809 | GLI3 | c.4536T>G (p.Asp1512Glu) c.4362T>G (p.Asp1454Glu) n.4513T>G c.4359T>G (p.Asp1453Glu) c.4533T>G (p.Asp1511Glu) | |
7 | g.41964537A>G | CA4230115 | GLI3 | c.4536T>C (p.Asp1512=) c.4362T>C (p.Asp1454=) n.4513T>C c.4359T>C (p.Asp1453=) c.4533T>C (p.Asp1511=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41964537A>T | CA367314810 | GLI3 | c.4536T>A (p.Asp1512Glu) c.4362T>A (p.Asp1454Glu) n.4513T>A c.4359T>A (p.Asp1453Glu) c.4533T>A (p.Asp1511Glu) | |
7 | g.41964538T>A | CA367314811 | GLI3 | c.4535A>T (p.Asp1512Val) c.4361A>T (p.Asp1454Val) n.4512A>T c.4358A>T (p.Asp1453Val) c.4532A>T (p.Asp1511Val) | |
7 | g.41964538T>C | CA367314812 | GLI3 | c.4535A>G (p.Asp1512Gly) c.4361A>G (p.Asp1454Gly) n.4512A>G c.4358A>G (p.Asp1453Gly) c.4532A>G (p.Asp1511Gly) | |
7 | g.41964538T>G | CA367314813 | GLI3 | c.4535A>C (p.Asp1512Ala) c.4361A>C (p.Asp1454Ala) n.4512A>C c.4358A>C (p.Asp1453Ala) c.4532A>C (p.Asp1511Ala) | |
7 | g.41964539C>A | CA367314814 | GLI3 | c.4534G>T (p.Asp1512Tyr) c.4360G>T (p.Asp1454Tyr) n.4511G>T c.4357G>T (p.Asp1453Tyr) c.4531G>T (p.Asp1511Tyr) | dbSNP gnomAD v4 |
7 | g.41964539C= | CA1702660325 | GLI3 | c.4534G= (p.Asp1512=) c.4360G= (p.Asp1454=) n.4511G= c.4357G= (p.Asp1453=) c.4531G= (p.Asp1511=) | |
7 | g.41964539C>G | CA367314815 | GLI3 | c.4534G>C (p.Asp1512His) c.4360G>C (p.Asp1454His) n.4511G>C c.4357G>C (p.Asp1453His) c.4531G>C (p.Asp1511His) | |
7 | g.41964539C>T | CA4230116 | GLI3 | c.4534G>A (p.Asp1512Asn) c.4360G>A (p.Asp1454Asn) n.4511G>A c.4357G>A (p.Asp1453Asn) c.4531G>A (p.Asp1511Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41964540G>A | CA4230117 | GLI3 | c.4533C>T (p.Asp1511=) c.4359C>T (p.Asp1453=) n.4510C>T c.4356C>T (p.Asp1452=) c.4530C>T (p.Asp1510=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41964540G>C | CA367314816 | GLI3 | c.4533C>G (p.Asp1511Glu) c.4359C>G (p.Asp1453Glu) n.4510C>G c.4356C>G (p.Asp1452Glu) c.4530C>G (p.Asp1510Glu) | |
7 | g.41964540G= | CA1702660326 | GLI3 | c.4533C= (p.Asp1511=) c.4359C= (p.Asp1453=) n.4510C= c.4356C= (p.Asp1452=) c.4530C= (p.Asp1510=) | |
7 | g.41964540G>T | CA367314817 | GLI3 | c.4533C>A (p.Asp1511Glu) c.4359C>A (p.Asp1453Glu) n.4510C>A c.4356C>A (p.Asp1452Glu) c.4530C>A (p.Asp1510Glu) | |
7 | g.41964541T>A | CA367314819 | GLI3 | c.4532A>T (p.Asp1511Val) c.4358A>T (p.Asp1453Val) n.4509A>T c.4355A>T (p.Asp1452Val) c.4529A>T (p.Asp1510Val) | |
7 | g.41964541T>C | CA367314820 | GLI3 | c.4532A>G (p.Asp1511Gly) c.4358A>G (p.Asp1453Gly) n.4509A>G c.4355A>G (p.Asp1452Gly) c.4529A>G (p.Asp1510Gly) | |
7 | g.41964541T>G | CA367314818 | GLI3 | c.4532A>C (p.Asp1511Ala) c.4358A>C (p.Asp1453Ala) n.4509A>C c.4355A>C (p.Asp1452Ala) c.4529A>C (p.Asp1510Ala) | |
7 | g.41964542C>A | CA367314821 | GLI3 | c.4531G>T (p.Asp1511Tyr) c.4357G>T (p.Asp1453Tyr) n.4508G>T c.4354G>T (p.Asp1452Tyr) c.4528G>T (p.Asp1510Tyr) | |
7 | g.41964542C>G | CA367314823 | GLI3 | c.4531G>C (p.Asp1511His) c.4357G>C (p.Asp1453His) n.4508G>C c.4354G>C (p.Asp1452His) c.4528G>C (p.Asp1510His) | |
7 | g.41964542C>T | CA367314822 | GLI3 | c.4531G>A (p.Asp1511Asn) c.4357G>A (p.Asp1453Asn) n.4508G>A c.4354G>A (p.Asp1452Asn) c.4528G>A (p.Asp1510Asn) | |
7 | g.41964543T>A | CA454657105 | GLI3 | c.4530A>T (p.Ile1510=) c.4356A>T (p.Ile1452=) n.4507A>T c.4353A>T (p.Ile1451=) c.4527A>T (p.Ile1509=) | |
7 | g.41964543T>C | CA367314824 | GLI3 | c.4530A>G (p.Ile1510Met) c.4356A>G (p.Ile1452Met) n.4507A>G c.4353A>G (p.Ile1451Met) c.4527A>G (p.Ile1509Met) | |
7 | g.41964543T>G | CA454657108 | GLI3 | c.4530A>C (p.Ile1510=) c.4356A>C (p.Ile1452=) n.4507A>C c.4353A>C (p.Ile1451=) c.4527A>C (p.Ile1509=) | |
7 | g.41964544A>C | CA367314825 | GLI3 | c.4529T>G (p.Ile1510Arg) c.4355T>G (p.Ile1452Arg) n.4506T>G c.4352T>G (p.Ile1451Arg) c.4526T>G (p.Ile1509Arg) | |
7 | g.41964544A>G | CA367314826 | GLI3 | c.4529T>C (p.Ile1510Thr) c.4355T>C (p.Ile1452Thr) n.4506T>C c.4352T>C (p.Ile1451Thr) c.4526T>C (p.Ile1509Thr) | gnomAD v4 |
7 | g.41964544A>T | CA367314827 | GLI3 | c.4529T>A (p.Ile1510Lys) c.4355T>A (p.Ile1452Lys) n.4506T>A c.4352T>A (p.Ile1451Lys) c.4526T>A (p.Ile1509Lys) | |
7 | g.41964545T>A | CA367314828 | GLI3 | c.4528A>T (p.Ile1510Leu) c.4354A>T (p.Ile1452Leu) n.4505A>T c.4351A>T (p.Ile1451Leu) c.4525A>T (p.Ile1509Leu) | |
7 | g.41964545T>C | CA4230118 | GLI3 | c.4528A>G (p.Ile1510Val) c.4354A>G (p.Ile1452Val) n.4505A>G c.4351A>G (p.Ile1451Val) c.4525A>G (p.Ile1509Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41964545T>G | CA367314829 | GLI3 | c.4528A>C (p.Ile1510Leu) c.4354A>C (p.Ile1452Leu) n.4505A>C c.4351A>C (p.Ile1451Leu) c.4525A>C (p.Ile1509Leu) | |
7 | g.41964545T= | CA1702660327 | GLI3 | c.4528A= (p.Ile1510=) c.4354A= (p.Ile1452=) n.4505A= c.4351A= (p.Ile1451=) c.4525A= (p.Ile1509=) | |
7 | g.41964546G>A | CA454657120 | GLI3 | c.4527C>T (p.Ile1509=) c.4353C>T (p.Ile1451=) n.4504C>T c.4350C>T (p.Ile1450=) c.4524C>T (p.Ile1508=) | |
7 | g.41964546G>C | CA367314830 | GLI3 | c.4527C>G (p.Ile1509Met) c.4353C>G (p.Ile1451Met) n.4504C>G c.4350C>G (p.Ile1450Met) c.4524C>G (p.Ile1508Met) | |
7 | g.41964546G= | CA1702660328 | GLI3 | c.4527C= (p.Ile1509=) c.4353C= (p.Ile1451=) n.4504C= c.4350C= (p.Ile1450=) c.4524C= (p.Ile1508=) | |
7 | g.41964546G>T | CA4230119 | GLI3 | c.4527C>A (p.Ile1509=) c.4353C>A (p.Ile1451=) n.4504C>A c.4350C>A (p.Ile1450=) c.4524C>A (p.Ile1508=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41964547A>C | CA367314831 | GLI3 | c.4526T>G (p.Ile1509Ser) c.4352T>G (p.Ile1451Ser) n.4503T>G c.4349T>G (p.Ile1450Ser) c.4523T>G (p.Ile1508Ser) | |
7 | g.41964547A>G | CA367314832 | GLI3 | c.4526T>C (p.Ile1509Thr) c.4352T>C (p.Ile1451Thr) n.4503T>C c.4349T>C (p.Ile1450Thr) c.4523T>C (p.Ile1508Thr) | |
7 | g.41964547A>T | CA367314833 | GLI3 | c.4526T>A (p.Ile1509Asn) c.4352T>A (p.Ile1451Asn) n.4503T>A c.4349T>A (p.Ile1450Asn) c.4523T>A (p.Ile1508Asn) | |
7 | g.41964548T>A | CA367314835 | GLI3 | c.4525A>T (p.Ile1509Phe) c.4351A>T (p.Ile1451Phe) n.4502A>T c.4348A>T (p.Ile1450Phe) c.4522A>T (p.Ile1508Phe) | |
7 | g.41964548T>C | CA4230120 | GLI3 | c.4525A>G (p.Ile1509Val) c.4351A>G (p.Ile1451Val) n.4502A>G c.4348A>G (p.Ile1450Val) c.4522A>G (p.Ile1508Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41964548T>G | CA367314834 | GLI3 | c.4525A>C (p.Ile1509Leu) c.4351A>C (p.Ile1451Leu) n.4502A>C c.4348A>C (p.Ile1450Leu) c.4522A>C (p.Ile1508Leu) | ClinVar |
7 | g.41964548T= | CA1702660329 | GLI3 | c.4525A= (p.Ile1509=) c.4351A= (p.Ile1451=) n.4502A= c.4348A= (p.Ile1450=) c.4522A= (p.Ile1508=) | |
7 | g.41964549G>A | CA4230121 | GLI3 | c.4524C>T (p.Ala1508=) c.4350C>T (p.Ala1450=) n.4501C>T c.4347C>T (p.Ala1449=) c.4521C>T (p.Ala1507=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41964549G>C | CA454657132 | GLI3 | c.4524C>G (p.Ala1508=) c.4350C>G (p.Ala1450=) n.4501C>G c.4347C>G (p.Ala1449=) c.4521C>G (p.Ala1507=) | |
7 | g.41964549G= | CA1702660330 | GLI3 | c.4524C= (p.Ala1508=) c.4350C= (p.Ala1450=) n.4501C= c.4347C= (p.Ala1449=) c.4521C= (p.Ala1507=) | |
7 | g.41964549G>T | CA454657134 | GLI3 | c.4524C>A (p.Ala1508=) c.4350C>A (p.Ala1450=) n.4501C>A c.4347C>A (p.Ala1449=) c.4521C>A (p.Ala1507=) | |
7 | g.41964550G>A | CA367314836 | GLI3 | c.4523C>T (p.Ala1508Val) c.4349C>T (p.Ala1450Val) n.4500C>T c.4346C>T (p.Ala1449Val) c.4520C>T (p.Ala1507Val) | dbSNP |
7 | g.41964550G>C | CA367314837 | GLI3 | c.4523C>G (p.Ala1508Gly) c.4349C>G (p.Ala1450Gly) n.4500C>G c.4346C>G (p.Ala1449Gly) c.4520C>G (p.Ala1507Gly) | |
7 | g.41964550G= | CA1702660331 | GLI3 | c.4523C= (p.Ala1508=) c.4349C= (p.Ala1450=) n.4500C= c.4346C= (p.Ala1449=) c.4520C= (p.Ala1507=) | |
7 | g.41964550G>T | CA367314838 | GLI3 | c.4523C>A (p.Ala1508Asp) c.4349C>A (p.Ala1450Asp) n.4500C>A c.4346C>A (p.Ala1449Asp) c.4520C>A (p.Ala1507Asp) | |
7 | g.41964551C>A | CA367314839 | GLI3 | c.4522G>T (p.Ala1508Ser) c.4348G>T (p.Ala1450Ser) n.4499G>T c.4345G>T (p.Ala1449Ser) c.4519G>T (p.Ala1507Ser) | |
7 | g.41964551C>G | CA367314840 | GLI3 | c.4522G>C (p.Ala1508Pro) c.4348G>C (p.Ala1450Pro) n.4499G>C c.4345G>C (p.Ala1449Pro) c.4519G>C (p.Ala1507Pro) | |
7 | g.41964551C>T | CA367314841 | GLI3 | c.4522G>A (p.Ala1508Thr) c.4348G>A (p.Ala1450Thr) n.4499G>A c.4345G>A (p.Ala1449Thr) c.4519G>A (p.Ala1507Thr) | |
7 | g.41964552A= | CA1702660332 | GLI3 | c.4521T= (p.Asp1507=) c.4347T= (p.Asp1449=) n.4498T= c.4344T= (p.Asp1448=) c.4518T= (p.Asp1506=) | |
7 | g.41964552A>C | CA367314842 | GLI3 | c.4521T>G (p.Asp1507Glu) c.4347T>G (p.Asp1449Glu) n.4498T>G c.4344T>G (p.Asp1448Glu) c.4518T>G (p.Asp1506Glu) | |
7 | g.41964552A>G | CA4230122 | GLI3 | c.4521T>C (p.Asp1507=) c.4347T>C (p.Asp1449=) n.4498T>C c.4344T>C (p.Asp1448=) c.4518T>C (p.Asp1506=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41964552A>T | CA367314843 | GLI3 | c.4521T>A (p.Asp1507Glu) c.4347T>A (p.Asp1449Glu) n.4498T>A c.4344T>A (p.Asp1448Glu) c.4518T>A (p.Asp1506Glu) | |
7 | g.41964553T>A | CA367314845 | GLI3 | c.4520A>T (p.Asp1507Val) c.4346A>T (p.Asp1449Val) n.4497A>T c.4343A>T (p.Asp1448Val) c.4517A>T (p.Asp1506Val) | |
7 | g.41964553T>C | CA156901982 | GLI3 | c.4520A>G (p.Asp1507Gly) c.4346A>G (p.Asp1449Gly) n.4497A>G c.4343A>G (p.Asp1448Gly) c.4517A>G (p.Asp1506Gly) | dbSNP |
7 | g.41964553T>G | CA367314844 | GLI3 | c.4520A>C (p.Asp1507Ala) c.4346A>C (p.Asp1449Ala) n.4497A>C c.4343A>C (p.Asp1448Ala) c.4517A>C (p.Asp1506Ala) | |
7 | g.41964553T= | CA1702660333 | GLI3 | c.4520A= (p.Asp1507=) c.4346A= (p.Asp1449=) n.4497A= c.4343A= (p.Asp1448=) c.4517A= (p.Asp1506=) | |
7 | g.41964554C>A | CA367314846 | GLI3 | c.4519G>T (p.Asp1507Tyr) c.4345G>T (p.Asp1449Tyr) n.4496G>T c.4342G>T (p.Asp1448Tyr) c.4516G>T (p.Asp1506Tyr) | gnomAD v4 |
7 | g.41964554C= | CA1702660334 | GLI3 | c.4519G= (p.Asp1507=) c.4345G= (p.Asp1449=) n.4496G= c.4342G= (p.Asp1448=) c.4516G= (p.Asp1506=) | |
7 | g.41964554C>G | CA367314847 | GLI3 | c.4519G>C (p.Asp1507His) c.4345G>C (p.Asp1449His) n.4496G>C c.4342G>C (p.Asp1448His) c.4516G>C (p.Asp1506His) | dbSNP gnomAD v4 |
7 | g.41964554C>T | CA4230123 | GLI3 | c.4519G>A (p.Asp1507Asn) c.4345G>A (p.Asp1449Asn) n.4496G>A c.4342G>A (p.Asp1448Asn) c.4516G>A (p.Asp1506Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41964555G>A | CA4230124 | GLI3 | c.4518C>T (p.Phe1506=) c.4344C>T (p.Phe1448=) n.4495C>T c.4341C>T (p.Phe1447=) c.4515C>T (p.Phe1505=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.41964555G>C | CA367314848 | GLI3 | c.4518C>G (p.Phe1506Leu) c.4344C>G (p.Phe1448Leu) n.4495C>G c.4341C>G (p.Phe1447Leu) c.4515C>G (p.Phe1505Leu) | gnomAD v4 |
7 | g.41964555G= | CA1702660335 | GLI3 | c.4518C= (p.Phe1506=) c.4344C= (p.Phe1448=) n.4495C= c.4341C= (p.Phe1447=) c.4515C= (p.Phe1505=) | |
7 | g.41964555G>T | CA367314849 | GLI3 | c.4518C>A (p.Phe1506Leu) c.4344C>A (p.Phe1448Leu) n.4495C>A c.4341C>A (p.Phe1447Leu) c.4515C>A (p.Phe1505Leu) | |
7 | g.41964556A>C | CA367314850 | GLI3 | c.4517T>G (p.Phe1506Cys) c.4343T>G (p.Phe1448Cys) n.4494T>G c.4340T>G (p.Phe1447Cys) c.4514T>G (p.Phe1505Cys) | |
7 | g.41964556A>G | CA367314851 | GLI3 | c.4517T>C (p.Phe1506Ser) c.4343T>C (p.Phe1448Ser) n.4494T>C c.4340T>C (p.Phe1447Ser) c.4514T>C (p.Phe1505Ser) | |
7 | g.41964556A>T | CA367314852 | GLI3 | c.4517T>A (p.Phe1506Tyr) c.4343T>A (p.Phe1448Tyr) n.4494T>A c.4340T>A (p.Phe1447Tyr) c.4514T>A (p.Phe1505Tyr) | |
7 | g.41964557A= | CA1702660336 | GLI3 | c.4516T= (p.Phe1506=) c.4342T= (p.Phe1448=) n.4493T= c.4339T= (p.Phe1447=) c.4513T= (p.Phe1505=) | |
7 | g.41964557A>C | CA367314853 | GLI3 | c.4516T>G (p.Phe1506Val) c.4342T>G (p.Phe1448Val) n.4493T>G c.4339T>G (p.Phe1447Val) c.4513T>G (p.Phe1505Val) | |
7 | g.41964557A>G | CA367314854 | GLI3 | c.4516T>C (p.Phe1506Leu) c.4342T>C (p.Phe1448Leu) n.4493T>C c.4339T>C (p.Phe1447Leu) c.4513T>C (p.Phe1505Leu) | |
7 | g.41964557A>T | CA367314855 | GLI3 | c.4516T>A (p.Phe1506Ile) c.4342T>A (p.Phe1448Ile) n.4493T>A c.4339T>A (p.Phe1447Ile) c.4513T>A (p.Phe1505Ile) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.41964558G>A | CA454657170 | GLI3 | c.4515C>T (p.Asp1505=) c.4341C>T (p.Asp1447=) n.4492C>T c.4338C>T (p.Asp1446=) c.4512C>T (p.Asp1504=) | COSMIC |
7 | g.41964558G>C | CA367314857 | GLI3 | c.4515C>G (p.Asp1505Glu) c.4341C>G (p.Asp1447Glu) n.4492C>G c.4338C>G (p.Asp1446Glu) c.4512C>G (p.Asp1504Glu) | |
7 | g.41964558G>T | CA367314856 | GLI3 | c.4515C>A (p.Asp1505Glu) c.4341C>A (p.Asp1447Glu) n.4492C>A c.4338C>A (p.Asp1446Glu) c.4512C>A (p.Asp1504Glu) | |
7 | g.41964559T>A | CA367314858 | GLI3 | c.4514A>T (p.Asp1505Val) c.4340A>T (p.Asp1447Val) n.4491A>T c.4337A>T (p.Asp1446Val) c.4511A>T (p.Asp1504Val) | |
7 | g.41964559T>C | CA367314859 | GLI3 | c.4514A>G (p.Asp1505Gly) c.4340A>G (p.Asp1447Gly) n.4491A>G c.4337A>G (p.Asp1446Gly) c.4511A>G (p.Asp1504Gly) | |
7 | g.41964559T>G | CA367314860 | GLI3 | c.4514A>C (p.Asp1505Ala) c.4340A>C (p.Asp1447Ala) n.4491A>C c.4337A>C (p.Asp1446Ala) c.4511A>C (p.Asp1504Ala) | |
7 | g.41964560C>A | CA156901993 | GLI3 | c.4513G>T (p.Asp1505Tyr) c.4339G>T (p.Asp1447Tyr) n.4490G>T c.4336G>T (p.Asp1446Tyr) c.4510G>T (p.Asp1504Tyr) | dbSNP |
7 | g.41964560C= | CA1702660337 | GLI3 | c.4513G= (p.Asp1505=) c.4339G= (p.Asp1447=) n.4490G= c.4336G= (p.Asp1446=) c.4510G= (p.Asp1504=) | |
7 | g.41964560C>G | CA367314861 | GLI3 | c.4513G>C (p.Asp1505His) c.4339G>C (p.Asp1447His) n.4490G>C c.4336G>C (p.Asp1446His) c.4510G>C (p.Asp1504His) | |
7 | g.41964560C>T | CA367314862 | GLI3 | c.4513G>A (p.Asp1505Asn) c.4339G>A (p.Asp1447Asn) n.4490G>A c.4336G>A (p.Asp1446Asn) c.4510G>A (p.Asp1504Asn) | |
7 | g.41964561A= | CA1702660338 | GLI3 | c.4512T= (p.Ile1504=) c.4338T= (p.Ile1446=) n.4489T= c.4335T= (p.Ile1445=) c.4509T= (p.Ile1503=) | |
7 | g.41964561A>C | CA367314863 | GLI3 | c.4512T>G (p.Ile1504Met) c.4338T>G (p.Ile1446Met) n.4489T>G c.4335T>G (p.Ile1445Met) c.4509T>G (p.Ile1503Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41964561A>G | CA454657183 | GLI3 | c.4512T>C (p.Ile1504=) c.4338T>C (p.Ile1446=) n.4489T>C c.4335T>C (p.Ile1445=) c.4509T>C (p.Ile1503=) | |
7 | g.41964561A>T | CA454657185 | GLI3 | c.4512T>A (p.Ile1504=) c.4338T>A (p.Ile1446=) n.4489T>A c.4335T>A (p.Ile1445=) c.4509T>A (p.Ile1503=) | |
7 | g.41964562A= | CA1702660339 | GLI3 | c.4511T= (p.Ile1504=) c.4337T= (p.Ile1446=) n.4488T= c.4334T= (p.Ile1445=) c.4508T= (p.Ile1503=) | |
7 | g.41964562A>C | CA367314864 | GLI3 | c.4511T>G (p.Ile1504Ser) c.4337T>G (p.Ile1446Ser) n.4488T>G c.4334T>G (p.Ile1445Ser) c.4508T>G (p.Ile1503Ser) | |
7 | g.41964562A>G | CA367314865 | GLI3 | c.4511T>C (p.Ile1504Thr) c.4337T>C (p.Ile1446Thr) n.4488T>C c.4334T>C (p.Ile1445Thr) c.4508T>C (p.Ile1503Thr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41964562A>T | CA367314866 | GLI3 | c.4511T>A (p.Ile1504Asn) c.4337T>A (p.Ile1446Asn) n.4488T>A c.4334T>A (p.Ile1445Asn) c.4508T>A (p.Ile1503Asn) | |
7 | g.41964563T>A | CA367314867 | GLI3 | c.4510A>T (p.Ile1504Phe) c.4336A>T (p.Ile1446Phe) n.4487A>T c.4333A>T (p.Ile1445Phe) c.4507A>T (p.Ile1503Phe) | gnomAD v4 |
7 | g.41964563T>C | CA367314868 | GLI3 | c.4510A>G (p.Ile1504Val) c.4336A>G (p.Ile1446Val) n.4487A>G c.4333A>G (p.Ile1445Val) c.4507A>G (p.Ile1503Val) | |
7 | g.41964563T>G | CA4230125 | GLI3 | c.4510A>C (p.Ile1504Leu) c.4336A>C (p.Ile1446Leu) n.4487A>C c.4333A>C (p.Ile1445Leu) c.4507A>C (p.Ile1503Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41964563T= | CA1702660340 | GLI3 | c.4510A= (p.Ile1504=) c.4336A= (p.Ile1446=) n.4487A= c.4333A= (p.Ile1445=) c.4507A= (p.Ile1503=) | |
7 | g.41964564C>A | CA367314869 | GLI3 | c.4509G>T (p.Gln1503His) c.4335G>T (p.Gln1445His) n.4486G>T c.4332G>T (p.Gln1444His) c.4506G>T (p.Gln1502His) | |
7 | g.41964564C>G | CA367314870 | GLI3 | c.4509G>C (p.Gln1503His) c.4335G>C (p.Gln1445His) n.4486G>C c.4332G>C (p.Gln1444His) c.4506G>C (p.Gln1502His) | |
7 | g.41964564C>T | CA454657197 | GLI3 | c.4509G>A (p.Gln1503=) c.4335G>A (p.Gln1445=) n.4486G>A c.4332G>A (p.Gln1444=) c.4506G>A (p.Gln1502=) | |
7 | g.41964565T>A | CA367314871 | GLI3 | c.4508A>T (p.Gln1503Leu) c.4334A>T (p.Gln1445Leu) n.4485A>T c.4331A>T (p.Gln1444Leu) c.4505A>T (p.Gln1502Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41964565T>C | CA367314873 | GLI3 | c.4508A>G (p.Gln1503Arg) c.4334A>G (p.Gln1445Arg) n.4485A>G c.4331A>G (p.Gln1444Arg) c.4505A>G (p.Gln1502Arg) | |
7 | g.41964565T>G | CA367314872 | GLI3 | c.4508A>C (p.Gln1503Pro) c.4334A>C (p.Gln1445Pro) n.4485A>C c.4331A>C (p.Gln1444Pro) c.4505A>C (p.Gln1502Pro) | |
7 | g.41964565T= | CA1702660341 | GLI3 | c.4508A= (p.Gln1503=) c.4334A= (p.Gln1445=) n.4485A= c.4331A= (p.Gln1444=) c.4505A= (p.Gln1502=) | |
7 | g.41964566G>A | CA367314874 | GLI3 | c.4507C>T (p.Gln1503Ter) c.4333C>T (p.Gln1445Ter) n.4484C>T c.4330C>T (p.Gln1444Ter) c.4504C>T (p.Gln1502Ter) | ClinVar dbSNP |
7 | g.41964566G>C | CA367314876 | GLI3 | c.4507C>G (p.Gln1503Glu) c.4333C>G (p.Gln1445Glu) n.4484C>G c.4330C>G (p.Gln1444Glu) c.4504C>G (p.Gln1502Glu) | |
7 | g.41964566G>T | CA367314875 | GLI3 | c.4507C>A (p.Gln1503Lys) c.4333C>A (p.Gln1445Lys) n.4484C>A c.4330C>A (p.Gln1444Lys) c.4504C>A (p.Gln1502Lys) | |
7 | g.41964567T>A | CA454657206 | GLI3 | c.4506A>T (p.Val1502=) c.4332A>T (p.Val1444=) n.4483A>T c.4329A>T (p.Val1443=) c.4503A>T (p.Val1501=) | COSMIC |
7 | g.41964567T>C | CA454657209 | GLI3 | c.4506A>G (p.Val1502=) c.4332A>G (p.Val1444=) n.4483A>G c.4329A>G (p.Val1443=) c.4503A>G (p.Val1501=) | gnomAD v4 COSMIC |
7 | g.41964567T>G | CA454657207 | GLI3 | c.4506A>C (p.Val1502=) c.4332A>C (p.Val1444=) n.4483A>C c.4329A>C (p.Val1443=) c.4503A>C (p.Val1501=) | |
7 | g.41964568A>C | CA367314877 | GLI3 | c.4505T>G (p.Val1502Gly) c.4331T>G (p.Val1444Gly) n.4482T>G c.4328T>G (p.Val1443Gly) c.4502T>G (p.Val1501Gly) | |
7 | g.41964568A>G | CA367314878 | GLI3 | c.4505T>C (p.Val1502Ala) c.4331T>C (p.Val1444Ala) n.4482T>C c.4328T>C (p.Val1443Ala) c.4502T>C (p.Val1501Ala) | gnomAD v4 |
7 | g.41964568A>T | CA367314879 | GLI3 | c.4505T>A (p.Val1502Glu) c.4331T>A (p.Val1444Glu) n.4482T>A c.4328T>A (p.Val1443Glu) c.4502T>A (p.Val1501Glu) | |
7 | g.41964569C>A | CA367314880 | GLI3 | c.4504G>T (p.Val1502Leu) c.4330G>T (p.Val1444Leu) n.4481G>T c.4327G>T (p.Val1443Leu) c.4501G>T (p.Val1501Leu) | |
7 | g.41964569C= | CA1702660342 | GLI3 | c.4504G= (p.Val1502=) c.4330G= (p.Val1444=) n.4481G= c.4327G= (p.Val1443=) c.4501G= (p.Val1501=) | |
7 | g.41964569C>G | CA367314881 | GLI3 | c.4504G>C (p.Val1502Leu) c.4330G>C (p.Val1444Leu) n.4481G>C c.4327G>C (p.Val1443Leu) c.4501G>C (p.Val1501Leu) | |
7 | g.41964569C>T | CA367314882 | GLI3 | c.4504G>A (p.Val1502Ile) c.4330G>A (p.Val1444Ile) n.4481G>A c.4327G>A (p.Val1443Ile) c.4501G>A (p.Val1501Ile) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41964570C>A | CA454657217 | GLI3 | c.4503G>T (p.Gly1501=) c.4329G>T (p.Gly1443=) n.4480G>T c.4326G>T (p.Gly1442=) c.4500G>T (p.Gly1500=) | |
7 | g.41964570C>G | CA454657219 | GLI3 | c.4503G>C (p.Gly1501=) c.4329G>C (p.Gly1443=) n.4480G>C c.4326G>C (p.Gly1442=) c.4500G>C (p.Gly1500=) | gnomAD v4 |
7 | g.41964570C>T | CA454657221 | GLI3 | c.4503G>A (p.Gly1501=) c.4329G>A (p.Gly1443=) n.4480G>A c.4326G>A (p.Gly1442=) c.4500G>A (p.Gly1500=) | |
7 | g.41964571C>A | CA367314883 | GLI3 | c.4502G>T (p.Gly1501Val) c.4328G>T (p.Gly1443Val) n.4479G>T c.4325G>T (p.Gly1442Val) c.4499G>T (p.Gly1500Val) | |
7 | g.41964571C= | CA1702660343 | GLI3 | c.4502G= (p.Gly1501=) c.4328G= (p.Gly1443=) n.4479G= c.4325G= (p.Gly1442=) c.4499G= (p.Gly1500=) | |
7 | g.41964571C>G | CA367314884 | GLI3 | c.4502G>C (p.Gly1501Ala) c.4328G>C (p.Gly1443Ala) n.4479G>C c.4325G>C (p.Gly1442Ala) c.4499G>C (p.Gly1500Ala) | |
7 | g.41964571C>T | CA367314885 | GLI3 | c.4502G>A (p.Gly1501Glu) c.4328G>A (p.Gly1443Glu) n.4479G>A c.4325G>A (p.Gly1442Glu) c.4499G>A (p.Gly1500Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41964572C>A | CA367314886 | GLI3 | c.4501G>T (p.Gly1501Trp) c.4327G>T (p.Gly1443Trp) n.4478G>T c.4324G>T (p.Gly1442Trp) c.4498G>T (p.Gly1500Trp) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41964572C= | CA1702660344 | GLI3 | c.4501G= (p.Gly1501=) c.4327G= (p.Gly1443=) n.4478G= c.4324G= (p.Gly1442=) c.4498G= (p.Gly1500=) | |
7 | g.41964572C>G | CA367314887 | GLI3 | c.4501G>C (p.Gly1501Arg) c.4327G>C (p.Gly1443Arg) n.4478G>C c.4324G>C (p.Gly1442Arg) c.4498G>C (p.Gly1500Arg) | |
7 | g.41964572C>T | CA367314888 | GLI3 | c.4501G>A (p.Gly1501Arg) c.4327G>A (p.Gly1443Arg) n.4478G>A c.4324G>A (p.Gly1442Arg) c.4498G>A (p.Gly1500Arg) | |
7 | g.41964573T>A | CA367314889 | GLI3 | c.4500A>T (p.Glu1500Asp) c.4326A>T (p.Glu1442Asp) n.4477A>T c.4323A>T (p.Glu1441Asp) c.4497A>T (p.Glu1499Asp) | |
7 | g.41964573T>C | CA454657230 | GLI3 | c.4500A>G (p.Glu1500=) c.4326A>G (p.Glu1442=) n.4477A>G c.4323A>G (p.Glu1441=) c.4497A>G (p.Glu1499=) | gnomAD v4 |
7 | g.41964573T>G | CA367314890 | GLI3 | c.4500A>C (p.Glu1500Asp) c.4326A>C (p.Glu1442Asp) n.4477A>C c.4323A>C (p.Glu1441Asp) c.4497A>C (p.Glu1499Asp) | |
7 | g.41964574T>A | CA367314891 | GLI3 | c.4499A>T (p.Glu1500Val) c.4325A>T (p.Glu1442Val) n.4476A>T c.4322A>T (p.Glu1441Val) c.4496A>T (p.Glu1499Val) | |
7 | g.41964574T>C | CA367314892 | GLI3 | c.4499A>G (p.Glu1500Gly) c.4325A>G (p.Glu1442Gly) n.4476A>G c.4322A>G (p.Glu1441Gly) c.4496A>G (p.Glu1499Gly) | |
7 | g.41964574T>G | CA367314893 | GLI3 | c.4499A>C (p.Glu1500Ala) c.4325A>C (p.Glu1442Ala) n.4476A>C c.4322A>C (p.Glu1441Ala) c.4496A>C (p.Glu1499Ala) | |
7 | g.41964575C>A | CA367314894 | GLI3 | c.4498G>T (p.Glu1500Ter) c.4324G>T (p.Glu1442Ter) n.4475G>T c.4321G>T (p.Glu1441Ter) c.4495G>T (p.Glu1499Ter) | ClinVar dbSNP |
7 | g.41964575C= | CA1702660345 | GLI3 | c.4498G= (p.Glu1500=) c.4324G= (p.Glu1442=) n.4475G= c.4321G= (p.Glu1441=) c.4495G= (p.Glu1499=) | |
7 | g.41964575C>G | CA367314895 | GLI3 | c.4498G>C (p.Glu1500Gln) c.4324G>C (p.Glu1442Gln) n.4475G>C c.4321G>C (p.Glu1441Gln) c.4495G>C (p.Glu1499Gln) | |
7 | g.41964575C>T | CA367314896 | GLI3 | c.4498G>A (p.Glu1500Lys) c.4324G>A (p.Glu1442Lys) n.4475G>A c.4321G>A (p.Glu1441Lys) c.4495G>A (p.Glu1499Lys) | |
7 | g.41964576C>A | CA454657241 | GLI3 | c.4497G>T (p.Leu1499=) c.4323G>T (p.Leu1441=) n.4474G>T c.4320G>T (p.Leu1440=) c.4494G>T (p.Leu1498=) | |
7 | g.41964576C>G | CA454657243 | GLI3 | c.4497G>C (p.Leu1499=) c.4323G>C (p.Leu1441=) n.4474G>C c.4320G>C (p.Leu1440=) c.4494G>C (p.Leu1498=) | |
7 | g.41964576C>T | CA454657244 | GLI3 | c.4497G>A (p.Leu1499=) c.4323G>A (p.Leu1441=) n.4474G>A c.4320G>A (p.Leu1440=) c.4494G>A (p.Leu1498=) | |
7 | g.41964577A>C | CA367314897 | GLI3 | c.4496T>G (p.Leu1499Arg) c.4322T>G (p.Leu1441Arg) n.4473T>G c.4319T>G (p.Leu1440Arg) c.4493T>G (p.Leu1498Arg) | |
7 | g.41964577A>G | CA367314898 | GLI3 | c.4496T>C (p.Leu1499Pro) c.4322T>C (p.Leu1441Pro) n.4473T>C c.4319T>C (p.Leu1440Pro) c.4493T>C (p.Leu1498Pro) | |
7 | g.41964577A>T | CA367314899 | GLI3 | c.4496T>A (p.Leu1499Gln) c.4322T>A (p.Leu1441Gln) n.4473T>A c.4319T>A (p.Leu1440Gln) c.4493T>A (p.Leu1498Gln) | |
7 | g.41964578G>A | CA454657251 | GLI3 | c.4495C>T (p.Leu1499=) c.4321C>T (p.Leu1441=) n.4472C>T c.4318C>T (p.Leu1440=) c.4492C>T (p.Leu1498=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41964578G>C | CA367314900 | GLI3 | c.4495C>G (p.Leu1499Val) c.4321C>G (p.Leu1441Val) n.4472C>G c.4318C>G (p.Leu1440Val) c.4492C>G (p.Leu1498Val) | ClinVar |
7 | g.41964578G= | CA1702660346 | GLI3 | c.4495C= (p.Leu1499=) c.4321C= (p.Leu1441=) n.4472C= c.4318C= (p.Leu1440=) c.4492C= (p.Leu1498=) | |
7 | g.41964578G>T | CA367314901 | GLI3 | c.4495C>A (p.Leu1499Met) c.4321C>A (p.Leu1441Met) n.4472C>A c.4318C>A (p.Leu1440Met) c.4492C>A (p.Leu1498Met) | |
7 | g.41964579G>A | CA454657255 | GLI3 | c.4494C>T (p.Asp1498=) c.4320C>T (p.Asp1440=) n.4471C>T c.4317C>T (p.Asp1439=) c.4491C>T (p.Asp1497=) | |
7 | g.41964579G>C | CA367314903 | GLI3 | c.4494C>G (p.Asp1498Glu) c.4320C>G (p.Asp1440Glu) n.4471C>G c.4317C>G (p.Asp1439Glu) c.4491C>G (p.Asp1497Glu) | |
7 | g.41964579G= | CA1702660347 | GLI3 | c.4494C= (p.Asp1498=) c.4320C= (p.Asp1440=) n.4471C= c.4317C= (p.Asp1439=) c.4491C= (p.Asp1497=) | |
7 | g.41964579G>T | CA367314902 | GLI3 | c.4494C>A (p.Asp1498Glu) c.4320C>A (p.Asp1440Glu) n.4471C>A c.4317C>A (p.Asp1439Glu) c.4491C>A (p.Asp1497Glu) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.41964580T>A | CA367314904 | GLI3 | c.4493A>T (p.Asp1498Val) c.4319A>T (p.Asp1440Val) n.4470A>T c.4316A>T (p.Asp1439Val) c.4490A>T (p.Asp1497Val) | |
7 | g.41964580T>C | CA367314905 | GLI3 | c.4493A>G (p.Asp1498Gly) c.4319A>G (p.Asp1440Gly) n.4470A>G c.4316A>G (p.Asp1439Gly) c.4490A>G (p.Asp1497Gly) | |
7 | g.41964580T>G | CA367314906 | GLI3 | c.4493A>C (p.Asp1498Ala) c.4319A>C (p.Asp1440Ala) n.4470A>C c.4316A>C (p.Asp1439Ala) c.4490A>C (p.Asp1497Ala) | |
7 | g.41964581C>A | CA367314907 | GLI3 | c.4492G>T (p.Asp1498Tyr) c.4318G>T (p.Asp1440Tyr) n.4469G>T c.4315G>T (p.Asp1439Tyr) c.4489G>T (p.Asp1497Tyr) | |
7 | g.41964581C>G | CA367314908 | GLI3 | c.4492G>C (p.Asp1498His) c.4318G>C (p.Asp1440His) n.4469G>C c.4315G>C (p.Asp1439His) c.4489G>C (p.Asp1497His) | |
7 | g.41964581C>T | CA367314909 | GLI3 | c.4492G>A (p.Asp1498Asn) c.4318G>A (p.Asp1440Asn) n.4469G>A c.4315G>A (p.Asp1439Asn) c.4489G>A (p.Asp1497Asn) | |
7 | g.41964582A>C | CA367314910 | GLI3 | c.4491T>G (p.His1497Gln) c.4317T>G (p.His1439Gln) n.4468T>G c.4314T>G (p.His1438Gln) c.4488T>G (p.His1496Gln) | |
7 | g.41964582A>G | CA454657267 | GLI3 | c.4491T>C (p.His1497=) c.4317T>C (p.His1439=) n.4468T>C c.4314T>C (p.His1438=) c.4488T>C (p.His1496=) | |
7 | g.41964582A>T | CA367314911 | GLI3 | c.4491T>A (p.His1497Gln) c.4317T>A (p.His1439Gln) n.4468T>A c.4314T>A (p.His1438Gln) c.4488T>A (p.His1496Gln) | |
7 | g.41964583T>A | CA367314912 | GLI3 | c.4490A>T (p.His1497Leu) c.4316A>T (p.His1439Leu) n.4467A>T c.4313A>T (p.His1438Leu) c.4487A>T (p.His1496Leu) | gnomAD v4 |
7 | g.41964583T>C | CA367314913 | GLI3 | c.4490A>G (p.His1497Arg) c.4316A>G (p.His1439Arg) n.4467A>G c.4313A>G (p.His1438Arg) c.4487A>G (p.His1496Arg) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41964583T>G | CA367314914 | GLI3 | c.4490A>C (p.His1497Pro) c.4316A>C (p.His1439Pro) n.4467A>C c.4313A>C (p.His1438Pro) c.4487A>C (p.His1496Pro) | |
7 | g.41964583T= | CA1702660348 | GLI3 | c.4490A= (p.His1497=) c.4316A= (p.His1439=) n.4467A= c.4313A= (p.His1438=) c.4487A= (p.His1496=) | |
7 | g.41964584G>A | CA367314915 | GLI3 | c.4489C>T (p.His1497Tyr) c.4315C>T (p.His1439Tyr) n.4466C>T c.4312C>T (p.His1438Tyr) c.4486C>T (p.His1496Tyr) | |
7 | g.41964584G>C | CA367314916 | GLI3 | c.4489C>G (p.His1497Asp) c.4315C>G (p.His1439Asp) n.4466C>G c.4312C>G (p.His1438Asp) c.4486C>G (p.His1496Asp) | |
7 | g.41964584G>T | CA367314917 | GLI3 | c.4489C>A (p.His1497Asn) c.4315C>A (p.His1439Asn) n.4466C>A c.4312C>A (p.His1438Asn) c.4486C>A (p.His1496Asn) | |
7 | g.41964585G>A | CA454657277 | GLI3 | c.4488C>T (p.Ser1496=) c.4314C>T (p.Ser1438=) n.4465C>T c.4311C>T (p.Ser1437=) c.4485C>T (p.Ser1495=) | |
7 | g.41964585G>C | CA367314918 | GLI3 | c.4488C>G (p.Ser1496Arg) c.4314C>G (p.Ser1438Arg) n.4465C>G c.4311C>G (p.Ser1437Arg) c.4485C>G (p.Ser1495Arg) | |
7 | g.41964585G>T | CA367314919 | GLI3 | c.4488C>A (p.Ser1496Arg) c.4314C>A (p.Ser1438Arg) n.4465C>A c.4311C>A (p.Ser1437Arg) c.4485C>A (p.Ser1495Arg) | |
7 | g.41964586C>A | CA367314920 | GLI3 | c.4487G>T (p.Ser1496Ile) c.4313G>T (p.Ser1438Ile) n.4464G>T c.4310G>T (p.Ser1437Ile) c.4484G>T (p.Ser1495Ile) | |
7 | g.41964586C= | CA1702660349 | GLI3 | c.4487G= (p.Ser1496=) c.4313G= (p.Ser1438=) n.4464G= c.4310G= (p.Ser1437=) c.4484G= (p.Ser1495=) | |
7 | g.41964586C>G | CA367314921 | GLI3 | c.4487G>C (p.Ser1496Thr) c.4313G>C (p.Ser1438Thr) n.4464G>C c.4310G>C (p.Ser1437Thr) c.4484G>C (p.Ser1495Thr) | |
7 | g.41964586C>T | CA4230126 | GLI3 | c.4487G>A (p.Ser1496Asn) c.4313G>A (p.Ser1438Asn) n.4464G>A c.4310G>A (p.Ser1437Asn) c.4484G>A (p.Ser1495Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41964587T>A | CA367314922 | GLI3 | c.4486A>T (p.Ser1496Cys) c.4312A>T (p.Ser1438Cys) n.4463A>T c.4309A>T (p.Ser1437Cys) c.4483A>T (p.Ser1495Cys) | |
7 | g.41964587T>C | CA367314923 | GLI3 | c.4486A>G (p.Ser1496Gly) c.4312A>G (p.Ser1438Gly) n.4463A>G c.4309A>G (p.Ser1437Gly) c.4483A>G (p.Ser1495Gly) | |
7 | g.41964587T>G | CA367314924 | GLI3 | c.4486A>C (p.Ser1496Arg) c.4312A>C (p.Ser1438Arg) n.4463A>C c.4309A>C (p.Ser1437Arg) c.4483A>C (p.Ser1495Arg) | |
7 | g.41964588G>A | CA454657287 | GLI3 | c.4485C>T (p.Asp1495=) c.4311C>T (p.Asp1437=) n.4462C>T c.4308C>T (p.Asp1436=) c.4482C>T (p.Asp1494=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.41964588G>C | CA367314925 | GLI3 | c.4485C>G (p.Asp1495Glu) c.4311C>G (p.Asp1437Glu) n.4462C>G c.4308C>G (p.Asp1436Glu) c.4482C>G (p.Asp1494Glu) | |
7 | g.41964588G= | CA1702660350 | GLI3 | c.4485C= (p.Asp1495=) c.4311C= (p.Asp1437=) n.4462C= c.4308C= (p.Asp1436=) c.4482C= (p.Asp1494=) | |
7 | g.41964588G>T | CA367314926 | GLI3 | c.4485C>A (p.Asp1495Glu) c.4311C>A (p.Asp1437Glu) n.4462C>A c.4308C>A (p.Asp1436Glu) c.4482C>A (p.Asp1494Glu) | |
7 | g.41964589T>A | CA367314927 | GLI3 | c.4484A>T (p.Asp1495Val) c.4310A>T (p.Asp1437Val) n.4461A>T c.4307A>T (p.Asp1436Val) c.4481A>T (p.Asp1494Val) | |
7 | g.41964589T>C | CA367314928 | GLI3 | c.4484A>G (p.Asp1495Gly) c.4310A>G (p.Asp1437Gly) n.4461A>G c.4307A>G (p.Asp1436Gly) c.4481A>G (p.Asp1494Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.41964589T>G | CA367314929 | GLI3 | c.4484A>C (p.Asp1495Ala) c.4310A>C (p.Asp1437Ala) n.4461A>C c.4307A>C (p.Asp1436Ala) c.4481A>C (p.Asp1494Ala) | |
7 | g.41964589T= | CA1702660351 | GLI3 | c.4484A= (p.Asp1495=) c.4310A= (p.Asp1437=) n.4461A= c.4307A= (p.Asp1436=) c.4481A= (p.Asp1494=) | |
7 | g.41964590C>A | CA367314931 | GLI3 | c.4483G>T (p.Asp1495Tyr) c.4309G>T (p.Asp1437Tyr) n.4460G>T c.4306G>T (p.Asp1436Tyr) c.4480G>T (p.Asp1494Tyr) | |
7 | g.41964590C= | CA1702660352 | GLI3 | c.4483G= (p.Asp1495=) c.4309G= (p.Asp1437=) n.4460G= c.4306G= (p.Asp1436=) c.4480G= (p.Asp1494=) | |
7 | g.41964590C>G | CA367314930 | GLI3 | c.4483G>C (p.Asp1495His) c.4309G>C (p.Asp1437His) n.4460G>C c.4306G>C (p.Asp1436His) c.4480G>C (p.Asp1494His) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41964590C>T | CA4230127 | GLI3 | c.4483G>A (p.Asp1495Asn) c.4309G>A (p.Asp1437Asn) n.4460G>A c.4306G>A (p.Asp1436Asn) c.4480G>A (p.Asp1494Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41964591G>A | CA454657298 | GLI3 | c.4482C>T (p.Leu1494=) c.4308C>T (p.Leu1436=) n.4459C>T c.4305C>T (p.Leu1435=) c.4479C>T (p.Leu1493=) | gnomAD v4 |
7 | g.41964591G>C | CA454657300 | GLI3 | c.4482C>G (p.Leu1494=) c.4308C>G (p.Leu1436=) n.4459C>G c.4305C>G (p.Leu1435=) c.4479C>G (p.Leu1493=) | |
7 | g.41964591G>T | CA454657302 | GLI3 | c.4482C>A (p.Leu1494=) c.4308C>A (p.Leu1436=) n.4459C>A c.4305C>A (p.Leu1435=) c.4479C>A (p.Leu1493=) | |
7 | g.41964592A>C | CA367314932 | GLI3 | c.4481T>G (p.Leu1494Arg) c.4307T>G (p.Leu1436Arg) n.4458T>G c.4304T>G (p.Leu1435Arg) c.4478T>G (p.Leu1493Arg) | |
7 | g.41964592A>G | CA367314934 | GLI3 | c.4481T>C (p.Leu1494Pro) c.4307T>C (p.Leu1436Pro) n.4458T>C c.4304T>C (p.Leu1435Pro) c.4478T>C (p.Leu1493Pro) | |
7 | g.41964592A>T | CA367314933 | GLI3 | c.4481T>A (p.Leu1494His) c.4307T>A (p.Leu1436His) n.4458T>A c.4304T>A (p.Leu1435His) c.4478T>A (p.Leu1493His) | |
7 | g.41964593G>A | CA367314935 | GLI3 | c.4480C>T (p.Leu1494Phe) c.4306C>T (p.Leu1436Phe) n.4457C>T c.4303C>T (p.Leu1435Phe) c.4477C>T (p.Leu1493Phe) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41964593G>C | CA367314936 | GLI3 | c.4480C>G (p.Leu1494Val) c.4306C>G (p.Leu1436Val) n.4457C>G c.4303C>G (p.Leu1435Val) c.4477C>G (p.Leu1493Val) | |
7 | g.41964593G= | CA1702660353 | GLI3 | c.4480C= (p.Leu1494=) c.4306C= (p.Leu1436=) n.4457C= c.4303C= (p.Leu1435=) c.4477C= (p.Leu1493=) | |
7 | g.41964593G>T | CA367314937 | GLI3 | c.4480C>A (p.Leu1494Ile) c.4306C>A (p.Leu1436Ile) n.4457C>A c.4303C>A (p.Leu1435Ile) c.4477C>A (p.Leu1493Ile) | |
7 | g.41964594G>A | CA454657312 | GLI3 | c.4479C>T (p.Ser1493=) c.4305C>T (p.Ser1435=) n.4456C>T c.4302C>T (p.Ser1434=) c.4476C>T (p.Ser1492=) | |
7 | g.41964594G>C | CA367314938 | GLI3 | c.4479C>G (p.Ser1493Arg) c.4305C>G (p.Ser1435Arg) n.4456C>G c.4302C>G (p.Ser1434Arg) c.4476C>G (p.Ser1492Arg) | |
7 | g.41964594G>T | CA367314939 | GLI3 | c.4479C>A (p.Ser1493Arg) c.4305C>A (p.Ser1435Arg) n.4456C>A c.4302C>A (p.Ser1434Arg) c.4476C>A (p.Ser1492Arg) | gnomAD v4 |
7 | g.41964595C>A | CA367314940 | GLI3 | c.4478G>T (p.Ser1493Ile) c.4304G>T (p.Ser1435Ile) n.4455G>T c.4301G>T (p.Ser1434Ile) c.4475G>T (p.Ser1492Ile) | |
7 | g.41964595C>G | CA367314941 | GLI3 | c.4478G>C (p.Ser1493Thr) c.4304G>C (p.Ser1435Thr) n.4455G>C c.4301G>C (p.Ser1434Thr) c.4475G>C (p.Ser1492Thr) | |
7 | g.41964595C>T | CA367314942 | GLI3 | c.4478G>A (p.Ser1493Asn) c.4304G>A (p.Ser1435Asn) n.4455G>A c.4301G>A (p.Ser1434Asn) c.4475G>A (p.Ser1492Asn) | gnomAD v4 |
7 | g.41964596T>A | CA367314943 | GLI3 | c.4477A>T (p.Ser1493Cys) c.4303A>T (p.Ser1435Cys) n.4454A>T c.4300A>T (p.Ser1434Cys) c.4474A>T (p.Ser1492Cys) | |
7 | g.41964596T>C | CA367314944 | GLI3 | c.4477A>G (p.Ser1493Gly) c.4303A>G (p.Ser1435Gly) n.4454A>G c.4300A>G (p.Ser1434Gly) c.4474A>G (p.Ser1492Gly) | ClinVar dbSNP |
7 | g.41964596T>G | CA367314945 | GLI3 | c.4477A>C (p.Ser1493Arg) c.4303A>C (p.Ser1435Arg) n.4454A>C c.4300A>C (p.Ser1434Arg) c.4474A>C (p.Ser1492Arg) | |
7 | g.41964597G>A | CA454657323 | GLI3 | c.4476C>T (p.Asp1492=) c.4302C>T (p.Asp1434=) n.4453C>T c.4299C>T (p.Asp1433=) c.4473C>T (p.Asp1491=) | |
7 | g.41964597G>C | CA367314947 | GLI3 | c.4476C>G (p.Asp1492Glu) c.4302C>G (p.Asp1434Glu) n.4453C>G c.4299C>G (p.Asp1433Glu) c.4473C>G (p.Asp1491Glu) | |
7 | g.41964597G>T | CA367314946 | GLI3 | c.4476C>A (p.Asp1492Glu) c.4302C>A (p.Asp1434Glu) n.4453C>A c.4299C>A (p.Asp1433Glu) c.4473C>A (p.Asp1491Glu) | |
7 | g.41964598T>A | CA367314948 | GLI3 | c.4475A>T (p.Asp1492Val) c.4301A>T (p.Asp1434Val) n.4452A>T c.4298A>T (p.Asp1433Val) c.4472A>T (p.Asp1491Val) | |
7 | g.41964598T>C | CA367314949 | GLI3 | c.4475A>G (p.Asp1492Gly) c.4301A>G (p.Asp1434Gly) n.4452A>G c.4298A>G (p.Asp1433Gly) c.4472A>G (p.Asp1491Gly) | |
7 | g.41964598T>G | CA367314950 | GLI3 | c.4475A>C (p.Asp1492Ala) c.4301A>C (p.Asp1434Ala) n.4452A>C c.4298A>C (p.Asp1433Ala) c.4472A>C (p.Asp1491Ala) | |
7 | g.41964599C>A | CA367314951 | GLI3 | c.4474G>T (p.Asp1492Tyr) c.4300G>T (p.Asp1434Tyr) n.4451G>T c.4297G>T (p.Asp1433Tyr) c.4471G>T (p.Asp1491Tyr) | |
7 | g.41964599C= | CA1702660354 | GLI3 | c.4474G= (p.Asp1492=) c.4300G= (p.Asp1434=) n.4451G= c.4297G= (p.Asp1433=) c.4471G= (p.Asp1491=) | |
7 | g.41964599C>G | CA367314952 | GLI3 | c.4474G>C (p.Asp1492His) c.4300G>C (p.Asp1434His) n.4451G>C c.4297G>C (p.Asp1433His) c.4471G>C (p.Asp1491His) | |
7 | g.41964599C>T | CA367314953 | GLI3 | c.4474G>A (p.Asp1492Asn) c.4300G>A (p.Asp1434Asn) n.4451G>A c.4297G>A (p.Asp1433Asn) c.4471G>A (p.Asp1491Asn) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.41964600C>A | CA454657336 | GLI3 | c.4473G>T (p.Val1491=) c.4299G>T (p.Val1433=) n.4450G>T c.4296G>T (p.Val1432=) c.4470G>T (p.Val1490=) | gnomAD v4 |
7 | g.41964600C>G | CA454657340 | GLI3 | c.4473G>C (p.Val1491=) c.4299G>C (p.Val1433=) n.4450G>C c.4296G>C (p.Val1432=) c.4470G>C (p.Val1490=) | gnomAD v4 |
7 | g.41964600C>T | CA454657338 | GLI3 | c.4473G>A (p.Val1491=) c.4299G>A (p.Val1433=) n.4450G>A c.4296G>A (p.Val1432=) c.4470G>A (p.Val1490=) | gnomAD v4 |
7 | g.41964601A= | CA1702660355 | GLI3 | c.4472T= (p.Val1491=) c.4298T= (p.Val1433=) n.4449T= c.4295T= (p.Val1432=) c.4469T= (p.Val1490=) | |
7 | g.41964601A>C | CA367314954 | GLI3 | c.4472T>G (p.Val1491Gly) c.4298T>G (p.Val1433Gly) n.4449T>G c.4295T>G (p.Val1432Gly) c.4469T>G (p.Val1490Gly) | |
7 | g.41964601A>G | CA367314955 | GLI3 | c.4472T>C (p.Val1491Ala) c.4298T>C (p.Val1433Ala) n.4449T>C c.4295T>C (p.Val1432Ala) c.4469T>C (p.Val1490Ala) | gnomAD v4 |
7 | g.41964601A>T | CA367314956 | GLI3 | c.4472T>A (p.Val1491Glu) c.4298T>A (p.Val1433Glu) n.4449T>A c.4295T>A (p.Val1432Glu) c.4469T>A (p.Val1490Glu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41964602C>A | CA367314957 | GLI3 | c.4471G>T (p.Val1491Leu) c.4297G>T (p.Val1433Leu) n.4448G>T c.4294G>T (p.Val1432Leu) c.4468G>T (p.Val1490Leu) | |
7 | g.41964602C>G | CA367314958 | GLI3 | c.4471G>C (p.Val1491Leu) c.4297G>C (p.Val1433Leu) n.4448G>C c.4294G>C (p.Val1432Leu) c.4468G>C (p.Val1490Leu) | |
7 | g.41964602C>T | CA367314959 | GLI3 | c.4471G>A (p.Val1491Met) c.4297G>A (p.Val1433Met) n.4448G>A c.4294G>A (p.Val1432Met) c.4468G>A (p.Val1490Met) | |
7 | g.41964603T>A | CA454657351 | GLI3 | c.4470A>T (p.Thr1490=) c.4296A>T (p.Thr1432=) n.4447A>T c.4293A>T (p.Thr1431=) c.4467A>T (p.Thr1489=) | |
7 | g.41964603T>C | CA454657352 | GLI3 | c.4470A>G (p.Thr1490=) c.4296A>G (p.Thr1432=) n.4447A>G c.4293A>G (p.Thr1431=) c.4467A>G (p.Thr1489=) | gnomAD v4 |
7 | g.41964603T>G | CA454657354 | GLI3 | c.4470A>C (p.Thr1490=) c.4296A>C (p.Thr1432=) n.4447A>C c.4293A>C (p.Thr1431=) c.4467A>C (p.Thr1489=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41964603T= | CA1702660356 | GLI3 | c.4470A= (p.Thr1490=) c.4296A= (p.Thr1432=) n.4447A= c.4293A= (p.Thr1431=) c.4467A= (p.Thr1489=) | |
7 | g.41964604G>A | CA367314961 | GLI3 | c.4469C>T (p.Thr1490Ile) c.4295C>T (p.Thr1432Ile) n.4446C>T c.4292C>T (p.Thr1431Ile) c.4466C>T (p.Thr1489Ile) | |
7 | g.41964604G>C | CA367314962 | GLI3 | c.4469C>G (p.Thr1490Arg) c.4295C>G (p.Thr1432Arg) n.4446C>G c.4292C>G (p.Thr1431Arg) c.4466C>G (p.Thr1489Arg) | gnomAD v4 |
7 | g.41964604G>T | CA367314960 | GLI3 | c.4469C>A (p.Thr1490Lys) c.4295C>A (p.Thr1432Lys) n.4446C>A c.4292C>A (p.Thr1431Lys) c.4466C>A (p.Thr1489Lys) | |
7 | g.41964605T>A | CA367314963 | GLI3 | c.4468A>T (p.Thr1490Ser) c.4294A>T (p.Thr1432Ser) n.4445A>T c.4291A>T (p.Thr1431Ser) c.4465A>T (p.Thr1489Ser) | |
7 | g.41964605T>C | CA367314964 | GLI3 | c.4468A>G (p.Thr1490Ala) c.4294A>G (p.Thr1432Ala) n.4445A>G c.4291A>G (p.Thr1431Ala) c.4465A>G (p.Thr1489Ala) | |
7 | g.41964605T>G | CA367314965 | GLI3 | c.4468A>C (p.Thr1490Pro) c.4294A>C (p.Thr1432Pro) n.4445A>C c.4291A>C (p.Thr1431Pro) c.4465A>C (p.Thr1489Pro) | |
7 | g.41964606G>A | CA454657360 | GLI3 | c.4467C>T (p.Ser1489=) c.4293C>T (p.Ser1431=) n.4444C>T c.4290C>T (p.Ser1430=) c.4464C>T (p.Ser1488=) | |
7 | g.41964606G>C | CA367314966 | GLI3 | c.4467C>G (p.Ser1489Arg) c.4293C>G (p.Ser1431Arg) n.4444C>G c.4290C>G (p.Ser1430Arg) c.4464C>G (p.Ser1488Arg) | |
7 | g.41964606G>T | CA367314967 | GLI3 | c.4467C>A (p.Ser1489Arg) c.4293C>A (p.Ser1431Arg) n.4444C>A c.4290C>A (p.Ser1430Arg) c.4464C>A (p.Ser1488Arg) | |
7 | g.41964607C>A | CA367314970 | GLI3 | c.4466G>T (p.Ser1489Ile) c.4292G>T (p.Ser1431Ile) n.4443G>T c.4289G>T (p.Ser1430Ile) c.4463G>T (p.Ser1488Ile) | |
7 | g.41964607C= | CA1702660357 | GLI3 | c.4466G= (p.Ser1489=) c.4292G= (p.Ser1431=) n.4443G= c.4289G= (p.Ser1430=) c.4463G= (p.Ser1488=) | |
7 | g.41964607C>G | CA367314969 | GLI3 | c.4466G>C (p.Ser1489Thr) c.4292G>C (p.Ser1431Thr) n.4443G>C c.4289G>C (p.Ser1430Thr) c.4463G>C (p.Ser1488Thr) | |
7 | g.41964607C>T | CA367314968 | GLI3 | c.4466G>A (p.Ser1489Asn) c.4292G>A (p.Ser1431Asn) n.4443G>A c.4289G>A (p.Ser1430Asn) c.4463G>A (p.Ser1488Asn) | dbSNP |
7 | g.41964608T>A | CA367314971 | GLI3 | c.4465A>T (p.Ser1489Cys) c.4291A>T (p.Ser1431Cys) n.4442A>T c.4288A>T (p.Ser1430Cys) c.4462A>T (p.Ser1488Cys) | |
7 | g.41964608T>C | CA367314972 | GLI3 | c.4465A>G (p.Ser1489Gly) c.4291A>G (p.Ser1431Gly) n.4442A>G c.4288A>G (p.Ser1430Gly) c.4462A>G (p.Ser1488Gly) | |
7 | g.41964608T>G | CA367314973 | GLI3 | c.4465A>C (p.Ser1489Arg) c.4291A>C (p.Ser1431Arg) n.4442A>C c.4288A>C (p.Ser1430Arg) c.4462A>C (p.Ser1488Arg) | |
7 | g.41964609dup | CA658769459 | GLI3 | c.4465dup (p.Ser1489LysfsTer10) c.4291dup (p.Ser1431LysfsTer10) n.4442dup c.4288dup (p.Ser1430LysfsTer10) c.4462dup (p.Ser1488LysfsTer10) | |
7 | g.41964609T>A | CA454657361 | GLI3 | c.4464A>T (p.Thr1488=) c.4290A>T (p.Thr1430=) n.4441A>T c.4287A>T (p.Thr1429=) c.4461A>T (p.Thr1487=) | |
7 | g.41964609T>C | CA454657362 | GLI3 | c.4464A>G (p.Thr1488=) c.4290A>G (p.Thr1430=) n.4441A>G c.4287A>G (p.Thr1429=) c.4461A>G (p.Thr1487=) | |
7 | g.41964609T>G | CA454657363 | GLI3 | c.4464A>C (p.Thr1488=) c.4290A>C (p.Thr1430=) n.4441A>C c.4287A>C (p.Thr1429=) c.4461A>C (p.Thr1487=) | |
7 | g.41964610del | CA2695207612 | GLI3 | c.4463del (p.Thr1488LysfsTer23) c.4289del (p.Thr1430LysfsTer23) n.4440del c.4286del (p.Thr1429LysfsTer23) c.4460del (p.Thr1487LysfsTer23) | |
7 | g.41964610G>A | CA367314974 | GLI3 | c.4463C>T (p.Thr1488Ile) c.4289C>T (p.Thr1430Ile) n.4440C>T c.4286C>T (p.Thr1429Ile) c.4460C>T (p.Thr1487Ile) | gnomAD v4 |
7 | g.41964610G>C | CA367314975 | GLI3 | c.4463C>G (p.Thr1488Arg) c.4289C>G (p.Thr1430Arg) n.4440C>G c.4286C>G (p.Thr1429Arg) c.4460C>G (p.Thr1487Arg) | |
7 | g.41964610G= | CA1702660358 | GLI3 | c.4463C= (p.Thr1488=) c.4289C= (p.Thr1430=) n.4440C= c.4286C= (p.Thr1429=) c.4460C= (p.Thr1487=) | |
7 | g.41964610G>T | CA367314976 | GLI3 | c.4463C>A (p.Thr1488Lys) c.4289C>A (p.Thr1430Lys) n.4440C>A c.4286C>A (p.Thr1429Lys) c.4460C>A (p.Thr1487Lys) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41964611T>A | CA367314977 | GLI3 | c.4462A>T (p.Thr1488Ser) c.4288A>T (p.Thr1430Ser) n.4439A>T c.4285A>T (p.Thr1429Ser) c.4459A>T (p.Thr1487Ser) | |
7 | g.41964611T>C | CA367314979 | GLI3 | c.4462A>G (p.Thr1488Ala) c.4288A>G (p.Thr1430Ala) n.4439A>G c.4285A>G (p.Thr1429Ala) c.4459A>G (p.Thr1487Ala) | gnomAD v4 |
7 | g.41964611T>G | CA367314978 | GLI3 | c.4462A>C (p.Thr1488Pro) c.4288A>C (p.Thr1430Pro) n.4439A>C c.4285A>C (p.Thr1429Pro) c.4459A>C (p.Thr1487Pro) | |
7 | g.41964612C>A | CA454657364 | GLI3 | c.4461G>T (p.Val1487=) c.4287G>T (p.Val1429=) n.4438G>T c.4284G>T (p.Val1428=) c.4458G>T (p.Val1486=) | |
7 | g.41964612C>G | CA454657365 | GLI3 | c.4461G>C (p.Val1487=) c.4287G>C (p.Val1429=) n.4438G>C c.4284G>C (p.Val1428=) c.4458G>C (p.Val1486=) | gnomAD v4 |
7 | g.41964612C>T | CA454657366 | GLI3 | c.4461G>A (p.Val1487=) c.4287G>A (p.Val1429=) n.4438G>A c.4284G>A (p.Val1428=) c.4458G>A (p.Val1486=) | gnomAD v4 |
7 | g.41964613A>C | CA367314980 | GLI3 | c.4460T>G (p.Val1487Gly) c.4286T>G (p.Val1429Gly) n.4437T>G c.4283T>G (p.Val1428Gly) c.4457T>G (p.Val1486Gly) | |
7 | g.41964613A>G | CA367314981 | GLI3 | c.4460T>C (p.Val1487Ala) c.4286T>C (p.Val1429Ala) n.4437T>C c.4283T>C (p.Val1428Ala) c.4457T>C (p.Val1486Ala) | |
7 | g.41964613A>T | CA367314982 | GLI3 | c.4460T>A (p.Val1487Glu) c.4286T>A (p.Val1429Glu) n.4437T>A c.4283T>A (p.Val1428Glu) c.4457T>A (p.Val1486Glu) | |
7 | g.41964614C>A | CA367314983 | GLI3 | c.4459G>T (p.Val1487Leu) c.4285G>T (p.Val1429Leu) n.4436G>T c.4282G>T (p.Val1428Leu) c.4456G>T (p.Val1486Leu) | |
7 | g.41964614C>G | CA367314984 | GLI3 | c.4459G>C (p.Val1487Leu) c.4285G>C (p.Val1429Leu) n.4436G>C c.4282G>C (p.Val1428Leu) c.4456G>C (p.Val1486Leu) | |
7 | g.41964614C>T | CA367314985 | GLI3 | c.4459G>A (p.Val1487Met) c.4285G>A (p.Val1429Met) n.4436G>A c.4282G>A (p.Val1428Met) c.4456G>A (p.Val1486Met) | |
7 | g.41964615C>A | CA367314986 | GLI3 | c.4458G>T (p.Gln1486His) c.4284G>T (p.Gln1428His) n.4435G>T c.4281G>T (p.Gln1427His) c.4455G>T (p.Gln1485His) | |
7 | g.41964615C= | CA1702660359 | GLI3 | c.4458G= (p.Gln1486=) c.4284G= (p.Gln1428=) n.4435G= c.4281G= (p.Gln1427=) c.4455G= (p.Gln1485=) | |
7 | g.41964615C>G | CA367314987 | GLI3 | c.4458G>C (p.Gln1486His) c.4284G>C (p.Gln1428His) n.4435G>C c.4281G>C (p.Gln1427His) c.4455G>C (p.Gln1485His) | |
7 | g.41964615C>T | CA4230128 | GLI3 | c.4458G>A (p.Gln1486=) c.4284G>A (p.Gln1428=) n.4435G>A c.4281G>A (p.Gln1427=) c.4455G>A (p.Gln1485=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41964616T>A | CA367314988 | GLI3 | c.4457A>T (p.Gln1486Leu) c.4283A>T (p.Gln1428Leu) n.4434A>T c.4280A>T (p.Gln1427Leu) c.4454A>T (p.Gln1485Leu) | |
7 | g.41964616T>C | CA367314989 | GLI3 | c.4457A>G (p.Gln1486Arg) c.4283A>G (p.Gln1428Arg) n.4434A>G c.4280A>G (p.Gln1427Arg) c.4454A>G (p.Gln1485Arg) | |
7 | g.41964616T>G | CA367314990 | GLI3 | c.4457A>C (p.Gln1486Pro) c.4283A>C (p.Gln1428Pro) n.4434A>C c.4280A>C (p.Gln1427Pro) c.4454A>C (p.Gln1485Pro) | |
7 | g.41964617G>A | CA367314992 | GLI3 | c.4456C>T (p.Gln1486Ter) c.4282C>T (p.Gln1428Ter) n.4433C>T c.4279C>T (p.Gln1427Ter) c.4453C>T (p.Gln1485Ter) | |
7 | g.41964617G>C | CA367314993 | GLI3 | c.4456C>G (p.Gln1486Glu) c.4282C>G (p.Gln1428Glu) n.4433C>G c.4279C>G (p.Gln1427Glu) c.4453C>G (p.Gln1485Glu) | |
7 | g.41964617G>T | CA367314991 | GLI3 | c.4456C>A (p.Gln1486Lys) c.4282C>A (p.Gln1428Lys) n.4433C>A c.4279C>A (p.Gln1427Lys) c.4453C>A (p.Gln1485Lys) | |
7 | g.41964618A= | CA1702660360 | GLI3 | c.4455T= (p.Asn1485=) c.4281T= (p.Asn1427=) n.4432T= c.4278T= (p.Asn1426=) c.4452T= (p.Asn1484=) | |
7 | g.41964618A>C | CA367314994 | GLI3 | c.4455T>G (p.Asn1485Lys) c.4281T>G (p.Asn1427Lys) n.4432T>G c.4278T>G (p.Asn1426Lys) c.4452T>G (p.Asn1484Lys) | |
7 | g.41964618A>G | CA454657367 | GLI3 | c.4455T>C (p.Asn1485=) c.4281T>C (p.Asn1427=) n.4432T>C c.4278T>C (p.Asn1426=) c.4452T>C (p.Asn1484=) | |
7 | g.41964618A>T | CA156902015 | GLI3 | c.4455T>A (p.Asn1485Lys) c.4281T>A (p.Asn1427Lys) n.4432T>A c.4278T>A (p.Asn1426Lys) c.4452T>A (p.Asn1484Lys) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41964619T>A | CA367314996 | GLI3 | c.4454A>T (p.Asn1485Ile) c.4280A>T (p.Asn1427Ile) n.4431A>T c.4277A>T (p.Asn1426Ile) c.4451A>T (p.Asn1484Ile) | |
7 | g.41964619T>C | CA367314995 | GLI3 | c.4454A>G (p.Asn1485Ser) c.4280A>G (p.Asn1427Ser) n.4431A>G c.4277A>G (p.Asn1426Ser) c.4451A>G (p.Asn1484Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41964619T>G | CA367314997 | GLI3 | c.4454A>C (p.Asn1485Thr) c.4280A>C (p.Asn1427Thr) n.4431A>C c.4277A>C (p.Asn1426Thr) c.4451A>C (p.Asn1484Thr) | |
7 | g.41964619T= | CA1702660361 | GLI3 | c.4454A= (p.Asn1485=) c.4280A= (p.Asn1427=) n.4431A= c.4277A= (p.Asn1426=) c.4451A= (p.Asn1484=) | |
7 | g.41964620T>A | CA367314998 | GLI3 | c.4453A>T (p.Asn1485Tyr) c.4279A>T (p.Asn1427Tyr) n.4430A>T c.4276A>T (p.Asn1426Tyr) c.4450A>T (p.Asn1484Tyr) | ClinVar dbSNP gnomAD v4 |
7 | g.41964620T>C | CA367314999 | GLI3 | c.4453A>G (p.Asn1485Asp) c.4279A>G (p.Asn1427Asp) n.4430A>G c.4276A>G (p.Asn1426Asp) c.4450A>G (p.Asn1484Asp) | gnomAD v4 |
7 | g.41964620T>G | CA367315000 | GLI3 | c.4453A>C (p.Asn1485His) c.4279A>C (p.Asn1427His) n.4430A>C c.4276A>C (p.Asn1426His) c.4450A>C (p.Asn1484His) | gnomAD v4 |
7 | g.41964621A>C | CA454657370 | GLI3 | c.4452T>G (p.Ala1484=) c.4278T>G (p.Ala1426=) n.4429T>G c.4275T>G (p.Ala1425=) c.4449T>G (p.Ala1483=) | |
7 | g.41964621A>G | CA454657368 | GLI3 | c.4452T>C (p.Ala1484=) c.4278T>C (p.Ala1426=) n.4429T>C c.4275T>C (p.Ala1425=) c.4449T>C (p.Ala1483=) | gnomAD v4 |
7 | g.41964621A>T | CA454657369 | GLI3 | c.4452T>A (p.Ala1484=) c.4278T>A (p.Ala1426=) n.4429T>A c.4275T>A (p.Ala1425=) c.4449T>A (p.Ala1483=) | |
7 | g.41964622G>A | CA367315001 | GLI3 | c.4451C>T (p.Ala1484Val) c.4277C>T (p.Ala1426Val) n.4428C>T c.4274C>T (p.Ala1425Val) c.4448C>T (p.Ala1483Val) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41964622G>C | CA367315002 | GLI3 | c.4451C>G (p.Ala1484Gly) c.4277C>G (p.Ala1426Gly) n.4428C>G c.4274C>G (p.Ala1425Gly) c.4448C>G (p.Ala1483Gly) | gnomAD v4 |
7 | g.41964622G= | CA1702660362 | GLI3 | c.4451C= (p.Ala1484=) c.4277C= (p.Ala1426=) n.4428C= c.4274C= (p.Ala1425=) c.4448C= (p.Ala1483=) | |
7 | g.41964622G>T | CA367315003 | GLI3 | c.4451C>A (p.Ala1484Asp) c.4277C>A (p.Ala1426Asp) n.4428C>A c.4274C>A (p.Ala1425Asp) c.4448C>A (p.Ala1483Asp) | gnomAD v4 |
7 | g.41964623C>A | CA367315004 | GLI3 | c.4450G>T (p.Ala1484Ser) c.4276G>T (p.Ala1426Ser) n.4427G>T c.4273G>T (p.Ala1425Ser) c.4447G>T (p.Ala1483Ser) | |
7 | g.41964623C= | CA1702660363 | GLI3 | c.4450G= (p.Ala1484=) c.4276G= (p.Ala1426=) n.4427G= c.4273G= (p.Ala1425=) c.4447G= (p.Ala1483=) | |
7 | g.41964623C>G | CA367315005 | GLI3 | c.4450G>C (p.Ala1484Pro) c.4276G>C (p.Ala1426Pro) n.4427G>C c.4273G>C (p.Ala1425Pro) c.4447G>C (p.Ala1483Pro) | |
7 | g.41964623C>T | CA367315006 | GLI3 | c.4450G>A (p.Ala1484Thr) c.4276G>A (p.Ala1426Thr) n.4427G>A c.4273G>A (p.Ala1425Thr) c.4447G>A (p.Ala1483Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
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) |