Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.41964348_41964757delinsGAATTTGCTTTCTTCCGCTAGGGAGGTCAGCAAAGAACTCATGTCCCCGATAGCCATGTTGGTGGTGCTCATGGACAGCGCTGGGAATGGGAGGGACGCCCGAGGCGTGGTGAGGCGGGAGGAGCTATGGGAAAGGTTCTGAATGATACTTGGGCTCAGGGCCCCCGACATCAGGCTGGAGTGGTCCCCATCGTCTATGATGGCATCGAAGTCAATCTGTACCCCTTCCAGGTCATGGCTGTCGAGGCTGTCCACTGTGCTTGTCACCTGATTAGCACCTGGGGAAAGTAACTCAGAGTTTTTGGCGCTGGTCCCCTGTAGCAGGCAGCTGGCGTCTGAAATAGAGAATGAACCAGCTTTCGTGTCTTGCTGACTGAAGCCCACGGTTTGGTCATAGAACTGACCAGAGTCA1702660224GLI3c.4316_4725delinsACTCTGGTCAGTTCTATGACCAAACCGTGGGCTTCAGTCAGCAAGACACGAAAGCTGGTTCATTCTCTATTTCAGACGCCAGCTGCCTGCTACAGGGGACCAGCGCCAAAAACTCTGAGTTACTTTCCCCAGGTGCTAATCAGGTGACAAGCACAGTGGACAGCCTCGACAGCCATGACCTGGAAGGGGTACAGATTGACTTCGATGCCATCATAGACGATGGGGACCACTCCAGCCTGATGTCGGGGGCCCTGAGCCCAAGTATCATTCAGAACCTTTCCCATAGCTCCTCCCGCCTCACCACGCCTCGGGCGTCCCTCCCATTCCCAGCGCTGTCCATGAGCACCACCAACATGGCTATCGGGGACATGAGTTCTTTGCTGACCTCCCTAGCGGAAGAAAGCAAATTC (p.Tyr1439=)
c.4142_4551delinsACTCTGGTCAGTTCTATGACCAAACCGTGGGCTTCAGTCAGCAAGACACGAAAGCTGGTTCATTCTCTATTTCAGACGCCAGCTGCCTGCTACAGGGGACCAGCGCCAAAAACTCTGAGTTACTTTCCCCAGGTGCTAATCAGGTGACAAGCACAGTGGACAGCCTCGACAGCCATGACCTGGAAGGGGTACAGATTGACTTCGATGCCATCATAGACGATGGGGACCACTCCAGCCTGATGTCGGGGGCCCTGAGCCCAAGTATCATTCAGAACCTTTCCCATAGCTCCTCCCGCCTCACCACGCCTCGGGCGTCCCTCCCATTCCCAGCGCTGTCCATGAGCACCACCAACATGGCTATCGGGGACATGAGTTCTTTGCTGACCTCCCTAGCGGAAGAAAGCAAATTC (p.Tyr1381=)
n.4293_4702delinsACTCTGGTCAGTTCTATGACCAAACCGTGGGCTTCAGTCAGCAAGACACGAAAGCTGGTTCATTCTCTATTTCAGACGCCAGCTGCCTGCTACAGGGGACCAGCGCCAAAAACTCTGAGTTACTTTCCCCAGGTGCTAATCAGGTGACAAGCACAGTGGACAGCCTCGACAGCCATGACCTGGAAGGGGTACAGATTGACTTCGATGCCATCATAGACGATGGGGACCACTCCAGCCTGATGTCGGGGGCCCTGAGCCCAAGTATCATTCAGAACCTTTCCCATAGCTCCTCCCGCCTCACCACGCCTCGGGCGTCCCTCCCATTCCCAGCGCTGTCCATGAGCACCACCAACATGGCTATCGGGGACATGAGTTCTTTGCTGACCTCCCTAGCGGAAGAAAGCAAATTC
c.4139_4548delinsACTCTGGTCAGTTCTATGACCAAACCGTGGGCTTCAGTCAGCAAGACACGAAAGCTGGTTCATTCTCTATTTCAGACGCCAGCTGCCTGCTACAGGGGACCAGCGCCAAAAACTCTGAGTTACTTTCCCCAGGTGCTAATCAGGTGACAAGCACAGTGGACAGCCTCGACAGCCATGACCTGGAAGGGGTACAGATTGACTTCGATGCCATCATAGACGATGGGGACCACTCCAGCCTGATGTCGGGGGCCCTGAGCCCAAGTATCATTCAGAACCTTTCCCATAGCTCCTCCCGCCTCACCACGCCTCGGGCGTCCCTCCCATTCCCAGCGCTGTCCATGAGCACCACCAACATGGCTATCGGGGACATGAGTTCTTTGCTGACCTCCCTAGCGGAAGAAAGCAAATTC (p.Tyr1380=)
c.4313_4722delinsACTCTGGTCAGTTCTATGACCAAACCGTGGGCTTCAGTCAGCAAGACACGAAAGCTGGTTCATTCTCTATTTCAGACGCCAGCTGCCTGCTACAGGGGACCAGCGCCAAAAACTCTGAGTTACTTTCCCCAGGTGCTAATCAGGTGACAAGCACAGTGGACAGCCTCGACAGCCATGACCTGGAAGGGGTACAGATTGACTTCGATGCCATCATAGACGATGGGGACCACTCCAGCCTGATGTCGGGGGCCCTGAGCCCAAGTATCATTCAGAACCTTTCCCATAGCTCCTCCCGCCTCACCACGCCTCGGGCGTCCCTCCCATTCCCAGCGCTGTCCATGAGCACCACCAACATGGCTATCGGGGACATGAGTTCTTTGCTGACCTCCCTAGCGGAAGAAAGCAAATTC (p.Tyr1438=)
7g.41964353_41964761delCA1139660043GLI3c.4316_4724del (p.Tyr1439SerfsTer9)
c.4142_4550del (p.Tyr1381SerfsTer9)
n.4293_4701del
c.4139_4547del (p.Tyr1380SerfsTer9)
c.4313_4721del (p.Tyr1438SerfsTer?)
 ClinVar dbSNP
7g.41964532T>ACA367314798GLI3c.4541A>T (p.Asp1514Val)
c.4367A>T (p.Asp1456Val)
n.4518A>T
c.4364A>T (p.Asp1455Val)
c.4538A>T (p.Asp1513Val)
7g.41964532T>CCA367314799GLI3c.4541A>G (p.Asp1514Gly)
c.4367A>G (p.Asp1456Gly)
n.4518A>G
c.4364A>G (p.Asp1455Gly)
c.4538A>G (p.Asp1513Gly)
7g.41964532T>GCA367314800GLI3c.4541A>C (p.Asp1514Ala)
c.4367A>C (p.Asp1456Ala)
n.4518A>C
c.4364A>C (p.Asp1455Ala)
c.4538A>C (p.Asp1513Ala)
7g.41964533C>ACA367314801GLI3c.4540G>T (p.Asp1514Tyr)
c.4366G>T (p.Asp1456Tyr)
n.4517G>T
c.4363G>T (p.Asp1455Tyr)
c.4537G>T (p.Asp1513Tyr)
 gnomAD v4
7g.41964533C>GCA367314802GLI3c.4540G>C (p.Asp1514His)
c.4366G>C (p.Asp1456His)
n.4517G>C
c.4363G>C (p.Asp1455His)
c.4537G>C (p.Asp1513His)
7g.41964533C>TCA367314803GLI3c.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
7g.41964536delCA2695207611GLI3c.4540del (p.Asp1514ThrfsTer5)
c.4366del (p.Asp1456ThrfsTer5)
n.4517del
c.4363del (p.Asp1455ThrfsTer5)
c.4537del (p.Asp1513ThrfsTer5)
7g.41964534C>ACA454657072GLI3c.4539G>T (p.Gly1513=)
c.4365G>T (p.Gly1455=)
n.4516G>T
c.4362G>T (p.Gly1454=)
c.4536G>T (p.Gly1512=)
7g.41964534C>GCA454657073GLI3c.4539G>C (p.Gly1513=)
c.4365G>C (p.Gly1455=)
n.4516G>C
c.4362G>C (p.Gly1454=)
c.4536G>C (p.Gly1512=)
7g.41964534C>TCA454657075GLI3c.4539G>A (p.Gly1513=)
c.4365G>A (p.Gly1455=)
n.4516G>A
c.4362G>A (p.Gly1454=)
c.4536G>A (p.Gly1512=)
7g.41964535C>ACA4230114GLI3c.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
7g.41964535C=CA1702660323GLI3c.4538G= (p.Gly1513=)
c.4364G= (p.Gly1455=)
n.4515G=
c.4361G= (p.Gly1454=)
c.4535G= (p.Gly1512=)
7g.41964535C>GCA367314804GLI3c.4538G>C (p.Gly1513Ala)
c.4364G>C (p.Gly1455Ala)
n.4515G>C
c.4361G>C (p.Gly1454Ala)
c.4535G>C (p.Gly1512Ala)
7g.41964535C>TCA367314805GLI3c.4538G>A (p.Gly1513Glu)
c.4364G>A (p.Gly1455Glu)
n.4515G>A
c.4361G>A (p.Gly1454Glu)
c.4535G>A (p.Gly1512Glu)
7g.41964536C>ACA367314808GLI3c.4537G>T (p.Gly1513Trp)
c.4363G>T (p.Gly1455Trp)
n.4514G>T
c.4360G>T (p.Gly1454Trp)
c.4534G>T (p.Gly1512Trp)
7g.41964536C>GCA367314806GLI3c.4537G>C (p.Gly1513Arg)
c.4363G>C (p.Gly1455Arg)
n.4514G>C
c.4360G>C (p.Gly1454Arg)
c.4534G>C (p.Gly1512Arg)
7g.41964536C>TCA367314807GLI3c.4537G>A (p.Gly1513Arg)
c.4363G>A (p.Gly1455Arg)
n.4514G>A
c.4360G>A (p.Gly1454Arg)
c.4534G>A (p.Gly1512Arg)
7g.41964537A=CA1702660324GLI3c.4536T= (p.Asp1512=)
c.4362T= (p.Asp1454=)
n.4513T=
c.4359T= (p.Asp1453=)
c.4533T= (p.Asp1511=)
7g.41964537A>CCA367314809GLI3c.4536T>G (p.Asp1512Glu)
c.4362T>G (p.Asp1454Glu)
n.4513T>G
c.4359T>G (p.Asp1453Glu)
c.4533T>G (p.Asp1511Glu)
7g.41964537A>GCA4230115GLI3c.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
7g.41964537A>TCA367314810GLI3c.4536T>A (p.Asp1512Glu)
c.4362T>A (p.Asp1454Glu)
n.4513T>A
c.4359T>A (p.Asp1453Glu)
c.4533T>A (p.Asp1511Glu)
7g.41964538T>ACA367314811GLI3c.4535A>T (p.Asp1512Val)
c.4361A>T (p.Asp1454Val)
n.4512A>T
c.4358A>T (p.Asp1453Val)
c.4532A>T (p.Asp1511Val)
7g.41964538T>CCA367314812GLI3c.4535A>G (p.Asp1512Gly)
c.4361A>G (p.Asp1454Gly)
n.4512A>G
c.4358A>G (p.Asp1453Gly)
c.4532A>G (p.Asp1511Gly)
7g.41964538T>GCA367314813GLI3c.4535A>C (p.Asp1512Ala)
c.4361A>C (p.Asp1454Ala)
n.4512A>C
c.4358A>C (p.Asp1453Ala)
c.4532A>C (p.Asp1511Ala)
7g.41964539C>ACA367314814GLI3c.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
7g.41964539C=CA1702660325GLI3c.4534G= (p.Asp1512=)
c.4360G= (p.Asp1454=)
n.4511G=
c.4357G= (p.Asp1453=)
c.4531G= (p.Asp1511=)
7g.41964539C>GCA367314815GLI3c.4534G>C (p.Asp1512His)
c.4360G>C (p.Asp1454His)
n.4511G>C
c.4357G>C (p.Asp1453His)
c.4531G>C (p.Asp1511His)
7g.41964539C>TCA4230116GLI3c.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
7g.41964540G>ACA4230117GLI3c.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
7g.41964540G>CCA367314816GLI3c.4533C>G (p.Asp1511Glu)
c.4359C>G (p.Asp1453Glu)
n.4510C>G
c.4356C>G (p.Asp1452Glu)
c.4530C>G (p.Asp1510Glu)
7g.41964540G=CA1702660326GLI3c.4533C= (p.Asp1511=)
c.4359C= (p.Asp1453=)
n.4510C=
c.4356C= (p.Asp1452=)
c.4530C= (p.Asp1510=)
7g.41964540G>TCA367314817GLI3c.4533C>A (p.Asp1511Glu)
c.4359C>A (p.Asp1453Glu)
n.4510C>A
c.4356C>A (p.Asp1452Glu)
c.4530C>A (p.Asp1510Glu)
7g.41964541T>ACA367314819GLI3c.4532A>T (p.Asp1511Val)
c.4358A>T (p.Asp1453Val)
n.4509A>T
c.4355A>T (p.Asp1452Val)
c.4529A>T (p.Asp1510Val)
7g.41964541T>CCA367314820GLI3c.4532A>G (p.Asp1511Gly)
c.4358A>G (p.Asp1453Gly)
n.4509A>G
c.4355A>G (p.Asp1452Gly)
c.4529A>G (p.Asp1510Gly)
7g.41964541T>GCA367314818GLI3c.4532A>C (p.Asp1511Ala)
c.4358A>C (p.Asp1453Ala)
n.4509A>C
c.4355A>C (p.Asp1452Ala)
c.4529A>C (p.Asp1510Ala)
7g.41964542C>ACA367314821GLI3c.4531G>T (p.Asp1511Tyr)
c.4357G>T (p.Asp1453Tyr)
n.4508G>T
c.4354G>T (p.Asp1452Tyr)
c.4528G>T (p.Asp1510Tyr)
7g.41964542C>GCA367314823GLI3c.4531G>C (p.Asp1511His)
c.4357G>C (p.Asp1453His)
n.4508G>C
c.4354G>C (p.Asp1452His)
c.4528G>C (p.Asp1510His)
7g.41964542C>TCA367314822GLI3c.4531G>A (p.Asp1511Asn)
c.4357G>A (p.Asp1453Asn)
n.4508G>A
c.4354G>A (p.Asp1452Asn)
c.4528G>A (p.Asp1510Asn)
7g.41964543T>ACA454657105GLI3c.4530A>T (p.Ile1510=)
c.4356A>T (p.Ile1452=)
n.4507A>T
c.4353A>T (p.Ile1451=)
c.4527A>T (p.Ile1509=)
7g.41964543T>CCA367314824GLI3c.4530A>G (p.Ile1510Met)
c.4356A>G (p.Ile1452Met)
n.4507A>G
c.4353A>G (p.Ile1451Met)
c.4527A>G (p.Ile1509Met)
7g.41964543T>GCA454657108GLI3c.4530A>C (p.Ile1510=)
c.4356A>C (p.Ile1452=)
n.4507A>C
c.4353A>C (p.Ile1451=)
c.4527A>C (p.Ile1509=)
7g.41964544A>CCA367314825GLI3c.4529T>G (p.Ile1510Arg)
c.4355T>G (p.Ile1452Arg)
n.4506T>G
c.4352T>G (p.Ile1451Arg)
c.4526T>G (p.Ile1509Arg)
7g.41964544A>GCA367314826GLI3c.4529T>C (p.Ile1510Thr)
c.4355T>C (p.Ile1452Thr)
n.4506T>C
c.4352T>C (p.Ile1451Thr)
c.4526T>C (p.Ile1509Thr)
 gnomAD v4
7g.41964544A>TCA367314827GLI3c.4529T>A (p.Ile1510Lys)
c.4355T>A (p.Ile1452Lys)
n.4506T>A
c.4352T>A (p.Ile1451Lys)
c.4526T>A (p.Ile1509Lys)
7g.41964545T>ACA367314828GLI3c.4528A>T (p.Ile1510Leu)
c.4354A>T (p.Ile1452Leu)
n.4505A>T
c.4351A>T (p.Ile1451Leu)
c.4525A>T (p.Ile1509Leu)
7g.41964545T>CCA4230118GLI3c.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
7g.41964545T>GCA367314829GLI3c.4528A>C (p.Ile1510Leu)
c.4354A>C (p.Ile1452Leu)
n.4505A>C
c.4351A>C (p.Ile1451Leu)
c.4525A>C (p.Ile1509Leu)
7g.41964545T=CA1702660327GLI3c.4528A= (p.Ile1510=)
c.4354A= (p.Ile1452=)
n.4505A=
c.4351A= (p.Ile1451=)
c.4525A= (p.Ile1509=)
7g.41964546G>ACA454657120GLI3c.4527C>T (p.Ile1509=)
c.4353C>T (p.Ile1451=)
n.4504C>T
c.4350C>T (p.Ile1450=)
c.4524C>T (p.Ile1508=)
7g.41964546G>CCA367314830GLI3c.4527C>G (p.Ile1509Met)
c.4353C>G (p.Ile1451Met)
n.4504C>G
c.4350C>G (p.Ile1450Met)
c.4524C>G (p.Ile1508Met)
7g.41964546G=CA1702660328GLI3c.4527C= (p.Ile1509=)
c.4353C= (p.Ile1451=)
n.4504C=
c.4350C= (p.Ile1450=)
c.4524C= (p.Ile1508=)
7g.41964546G>TCA4230119GLI3c.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
7g.41964547A>CCA367314831GLI3c.4526T>G (p.Ile1509Ser)
c.4352T>G (p.Ile1451Ser)
n.4503T>G
c.4349T>G (p.Ile1450Ser)
c.4523T>G (p.Ile1508Ser)
7g.41964547A>GCA367314832GLI3c.4526T>C (p.Ile1509Thr)
c.4352T>C (p.Ile1451Thr)
n.4503T>C
c.4349T>C (p.Ile1450Thr)
c.4523T>C (p.Ile1508Thr)
7g.41964547A>TCA367314833GLI3c.4526T>A (p.Ile1509Asn)
c.4352T>A (p.Ile1451Asn)
n.4503T>A
c.4349T>A (p.Ile1450Asn)
c.4523T>A (p.Ile1508Asn)
7g.41964548T>ACA367314835GLI3c.4525A>T (p.Ile1509Phe)
c.4351A>T (p.Ile1451Phe)
n.4502A>T
c.4348A>T (p.Ile1450Phe)
c.4522A>T (p.Ile1508Phe)
7g.41964548T>CCA4230120GLI3c.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
7g.41964548T>GCA367314834GLI3c.4525A>C (p.Ile1509Leu)
c.4351A>C (p.Ile1451Leu)
n.4502A>C
c.4348A>C (p.Ile1450Leu)
c.4522A>C (p.Ile1508Leu)
 ClinVar
7g.41964548T=CA1702660329GLI3c.4525A= (p.Ile1509=)
c.4351A= (p.Ile1451=)
n.4502A=
c.4348A= (p.Ile1450=)
c.4522A= (p.Ile1508=)
7g.41964549G>ACA4230121GLI3c.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
7g.41964549G>CCA454657132GLI3c.4524C>G (p.Ala1508=)
c.4350C>G (p.Ala1450=)
n.4501C>G
c.4347C>G (p.Ala1449=)
c.4521C>G (p.Ala1507=)
7g.41964549G=CA1702660330GLI3c.4524C= (p.Ala1508=)
c.4350C= (p.Ala1450=)
n.4501C=
c.4347C= (p.Ala1449=)
c.4521C= (p.Ala1507=)
7g.41964549G>TCA454657134GLI3c.4524C>A (p.Ala1508=)
c.4350C>A (p.Ala1450=)
n.4501C>A
c.4347C>A (p.Ala1449=)
c.4521C>A (p.Ala1507=)
7g.41964550G>ACA367314836GLI3c.4523C>T (p.Ala1508Val)
c.4349C>T (p.Ala1450Val)
n.4500C>T
c.4346C>T (p.Ala1449Val)
c.4520C>T (p.Ala1507Val)
 dbSNP
7g.41964550G>CCA367314837GLI3c.4523C>G (p.Ala1508Gly)
c.4349C>G (p.Ala1450Gly)
n.4500C>G
c.4346C>G (p.Ala1449Gly)
c.4520C>G (p.Ala1507Gly)
7g.41964550G=CA1702660331GLI3c.4523C= (p.Ala1508=)
c.4349C= (p.Ala1450=)
n.4500C=
c.4346C= (p.Ala1449=)
c.4520C= (p.Ala1507=)
7g.41964550G>TCA367314838GLI3c.4523C>A (p.Ala1508Asp)
c.4349C>A (p.Ala1450Asp)
n.4500C>A
c.4346C>A (p.Ala1449Asp)
c.4520C>A (p.Ala1507Asp)
7g.41964551C>ACA367314839GLI3c.4522G>T (p.Ala1508Ser)
c.4348G>T (p.Ala1450Ser)
n.4499G>T
c.4345G>T (p.Ala1449Ser)
c.4519G>T (p.Ala1507Ser)
7g.41964551C>GCA367314840GLI3c.4522G>C (p.Ala1508Pro)
c.4348G>C (p.Ala1450Pro)
n.4499G>C
c.4345G>C (p.Ala1449Pro)
c.4519G>C (p.Ala1507Pro)
7g.41964551C>TCA367314841GLI3c.4522G>A (p.Ala1508Thr)
c.4348G>A (p.Ala1450Thr)
n.4499G>A
c.4345G>A (p.Ala1449Thr)
c.4519G>A (p.Ala1507Thr)
7g.41964552A=CA1702660332GLI3c.4521T= (p.Asp1507=)
c.4347T= (p.Asp1449=)
n.4498T=
c.4344T= (p.Asp1448=)
c.4518T= (p.Asp1506=)
7g.41964552A>CCA367314842GLI3c.4521T>G (p.Asp1507Glu)
c.4347T>G (p.Asp1449Glu)
n.4498T>G
c.4344T>G (p.Asp1448Glu)
c.4518T>G (p.Asp1506Glu)
7g.41964552A>GCA4230122GLI3c.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
7g.41964552A>TCA367314843GLI3c.4521T>A (p.Asp1507Glu)
c.4347T>A (p.Asp1449Glu)
n.4498T>A
c.4344T>A (p.Asp1448Glu)
c.4518T>A (p.Asp1506Glu)
7g.41964553T>ACA367314845GLI3c.4520A>T (p.Asp1507Val)
c.4346A>T (p.Asp1449Val)
n.4497A>T
c.4343A>T (p.Asp1448Val)
c.4517A>T (p.Asp1506Val)
7g.41964553T>CCA156901982GLI3c.4520A>G (p.Asp1507Gly)
c.4346A>G (p.Asp1449Gly)
n.4497A>G
c.4343A>G (p.Asp1448Gly)
c.4517A>G (p.Asp1506Gly)
 dbSNP
7g.41964553T>GCA367314844GLI3c.4520A>C (p.Asp1507Ala)
c.4346A>C (p.Asp1449Ala)
n.4497A>C
c.4343A>C (p.Asp1448Ala)
c.4517A>C (p.Asp1506Ala)
7g.41964553T=CA1702660333GLI3c.4520A= (p.Asp1507=)
c.4346A= (p.Asp1449=)
n.4497A=
c.4343A= (p.Asp1448=)
c.4517A= (p.Asp1506=)
7g.41964554C>ACA367314846GLI3c.4519G>T (p.Asp1507Tyr)
c.4345G>T (p.Asp1449Tyr)
n.4496G>T
c.4342G>T (p.Asp1448Tyr)
c.4516G>T (p.Asp1506Tyr)
 gnomAD v4
7g.41964554C=CA1702660334GLI3c.4519G= (p.Asp1507=)
c.4345G= (p.Asp1449=)
n.4496G=
c.4342G= (p.Asp1448=)
c.4516G= (p.Asp1506=)
7g.41964554C>GCA367314847GLI3c.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
7g.41964554C>TCA4230123GLI3c.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
7g.41964555G>ACA4230124GLI3c.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
7g.41964555G>CCA367314848GLI3c.4518C>G (p.Phe1506Leu)
c.4344C>G (p.Phe1448Leu)
n.4495C>G
c.4341C>G (p.Phe1447Leu)
c.4515C>G (p.Phe1505Leu)
 gnomAD v4
7g.41964555G=CA1702660335GLI3c.4518C= (p.Phe1506=)
c.4344C= (p.Phe1448=)
n.4495C=
c.4341C= (p.Phe1447=)
c.4515C= (p.Phe1505=)
7g.41964555G>TCA367314849GLI3c.4518C>A (p.Phe1506Leu)
c.4344C>A (p.Phe1448Leu)
n.4495C>A
c.4341C>A (p.Phe1447Leu)
c.4515C>A (p.Phe1505Leu)
7g.41964556A>CCA367314850GLI3c.4517T>G (p.Phe1506Cys)
c.4343T>G (p.Phe1448Cys)
n.4494T>G
c.4340T>G (p.Phe1447Cys)
c.4514T>G (p.Phe1505Cys)
7g.41964556A>GCA367314851GLI3c.4517T>C (p.Phe1506Ser)
c.4343T>C (p.Phe1448Ser)
n.4494T>C
c.4340T>C (p.Phe1447Ser)
c.4514T>C (p.Phe1505Ser)
7g.41964556A>TCA367314852GLI3c.4517T>A (p.Phe1506Tyr)
c.4343T>A (p.Phe1448Tyr)
n.4494T>A
c.4340T>A (p.Phe1447Tyr)
c.4514T>A (p.Phe1505Tyr)
7g.41964557A=CA1702660336GLI3c.4516T= (p.Phe1506=)
c.4342T= (p.Phe1448=)
n.4493T=
c.4339T= (p.Phe1447=)
c.4513T= (p.Phe1505=)
7g.41964557A>CCA367314853GLI3c.4516T>G (p.Phe1506Val)
c.4342T>G (p.Phe1448Val)
n.4493T>G
c.4339T>G (p.Phe1447Val)
c.4513T>G (p.Phe1505Val)
7g.41964557A>GCA367314854GLI3c.4516T>C (p.Phe1506Leu)
c.4342T>C (p.Phe1448Leu)
n.4493T>C
c.4339T>C (p.Phe1447Leu)
c.4513T>C (p.Phe1505Leu)
7g.41964557A>TCA367314855GLI3c.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
7g.41964558G>ACA454657170GLI3c.4515C>T (p.Asp1505=)
c.4341C>T (p.Asp1447=)
n.4492C>T
c.4338C>T (p.Asp1446=)
c.4512C>T (p.Asp1504=)
 COSMIC
7g.41964558G>CCA367314857GLI3c.4515C>G (p.Asp1505Glu)
c.4341C>G (p.Asp1447Glu)
n.4492C>G
c.4338C>G (p.Asp1446Glu)
c.4512C>G (p.Asp1504Glu)
7g.41964558G>TCA367314856GLI3c.4515C>A (p.Asp1505Glu)
c.4341C>A (p.Asp1447Glu)
n.4492C>A
c.4338C>A (p.Asp1446Glu)
c.4512C>A (p.Asp1504Glu)
7g.41964559T>ACA367314858GLI3c.4514A>T (p.Asp1505Val)
c.4340A>T (p.Asp1447Val)
n.4491A>T
c.4337A>T (p.Asp1446Val)
c.4511A>T (p.Asp1504Val)
7g.41964559T>CCA367314859GLI3c.4514A>G (p.Asp1505Gly)
c.4340A>G (p.Asp1447Gly)
n.4491A>G
c.4337A>G (p.Asp1446Gly)
c.4511A>G (p.Asp1504Gly)
7g.41964559T>GCA367314860GLI3c.4514A>C (p.Asp1505Ala)
c.4340A>C (p.Asp1447Ala)
n.4491A>C
c.4337A>C (p.Asp1446Ala)
c.4511A>C (p.Asp1504Ala)
7g.41964560C>ACA156901993GLI3c.4513G>T (p.Asp1505Tyr)
c.4339G>T (p.Asp1447Tyr)
n.4490G>T
c.4336G>T (p.Asp1446Tyr)
c.4510G>T (p.Asp1504Tyr)
 dbSNP
7g.41964560C=CA1702660337GLI3c.4513G= (p.Asp1505=)
c.4339G= (p.Asp1447=)
n.4490G=
c.4336G= (p.Asp1446=)
c.4510G= (p.Asp1504=)
7g.41964560C>GCA367314861GLI3c.4513G>C (p.Asp1505His)
c.4339G>C (p.Asp1447His)
n.4490G>C
c.4336G>C (p.Asp1446His)
c.4510G>C (p.Asp1504His)
7g.41964560C>TCA367314862GLI3c.4513G>A (p.Asp1505Asn)
c.4339G>A (p.Asp1447Asn)
n.4490G>A
c.4336G>A (p.Asp1446Asn)
c.4510G>A (p.Asp1504Asn)
7g.41964561A=CA1702660338GLI3c.4512T= (p.Ile1504=)
c.4338T= (p.Ile1446=)
n.4489T=
c.4335T= (p.Ile1445=)
c.4509T= (p.Ile1503=)
7g.41964561A>CCA367314863GLI3c.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
7g.41964561A>GCA454657183GLI3c.4512T>C (p.Ile1504=)
c.4338T>C (p.Ile1446=)
n.4489T>C
c.4335T>C (p.Ile1445=)
c.4509T>C (p.Ile1503=)
7g.41964561A>TCA454657185GLI3c.4512T>A (p.Ile1504=)
c.4338T>A (p.Ile1446=)
n.4489T>A
c.4335T>A (p.Ile1445=)
c.4509T>A (p.Ile1503=)
7g.41964562A=CA1702660339GLI3c.4511T= (p.Ile1504=)
c.4337T= (p.Ile1446=)
n.4488T=
c.4334T= (p.Ile1445=)
c.4508T= (p.Ile1503=)
7g.41964562A>CCA367314864GLI3c.4511T>G (p.Ile1504Ser)
c.4337T>G (p.Ile1446Ser)
n.4488T>G
c.4334T>G (p.Ile1445Ser)
c.4508T>G (p.Ile1503Ser)
7g.41964562A>GCA367314865GLI3c.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
7g.41964562A>TCA367314866GLI3c.4511T>A (p.Ile1504Asn)
c.4337T>A (p.Ile1446Asn)
n.4488T>A
c.4334T>A (p.Ile1445Asn)
c.4508T>A (p.Ile1503Asn)
7g.41964563T>ACA367314867GLI3c.4510A>T (p.Ile1504Phe)
c.4336A>T (p.Ile1446Phe)
n.4487A>T
c.4333A>T (p.Ile1445Phe)
c.4507A>T (p.Ile1503Phe)
 gnomAD v4
7g.41964563T>CCA367314868GLI3c.4510A>G (p.Ile1504Val)
c.4336A>G (p.Ile1446Val)
n.4487A>G
c.4333A>G (p.Ile1445Val)
c.4507A>G (p.Ile1503Val)
7g.41964563T>GCA4230125GLI3c.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
7g.41964563T=CA1702660340GLI3c.4510A= (p.Ile1504=)
c.4336A= (p.Ile1446=)
n.4487A=
c.4333A= (p.Ile1445=)
c.4507A= (p.Ile1503=)
7g.41964564C>ACA367314869GLI3c.4509G>T (p.Gln1503His)
c.4335G>T (p.Gln1445His)
n.4486G>T
c.4332G>T (p.Gln1444His)
c.4506G>T (p.Gln1502His)
7g.41964564C>GCA367314870GLI3c.4509G>C (p.Gln1503His)
c.4335G>C (p.Gln1445His)
n.4486G>C
c.4332G>C (p.Gln1444His)
c.4506G>C (p.Gln1502His)
7g.41964564C>TCA454657197GLI3c.4509G>A (p.Gln1503=)
c.4335G>A (p.Gln1445=)
n.4486G>A
c.4332G>A (p.Gln1444=)
c.4506G>A (p.Gln1502=)
7g.41964565T>ACA367314871GLI3c.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
7g.41964565T>CCA367314873GLI3c.4508A>G (p.Gln1503Arg)
c.4334A>G (p.Gln1445Arg)
n.4485A>G
c.4331A>G (p.Gln1444Arg)
c.4505A>G (p.Gln1502Arg)
7g.41964565T>GCA367314872GLI3c.4508A>C (p.Gln1503Pro)
c.4334A>C (p.Gln1445Pro)
n.4485A>C
c.4331A>C (p.Gln1444Pro)
c.4505A>C (p.Gln1502Pro)
7g.41964565T=CA1702660341GLI3c.4508A= (p.Gln1503=)
c.4334A= (p.Gln1445=)
n.4485A=
c.4331A= (p.Gln1444=)
c.4505A= (p.Gln1502=)
7g.41964566G>ACA367314874GLI3c.4507C>T (p.Gln1503Ter)
c.4333C>T (p.Gln1445Ter)
n.4484C>T
c.4330C>T (p.Gln1444Ter)
c.4504C>T (p.Gln1502Ter)
 ClinVar dbSNP
7g.41964566G>CCA367314876GLI3c.4507C>G (p.Gln1503Glu)
c.4333C>G (p.Gln1445Glu)
n.4484C>G
c.4330C>G (p.Gln1444Glu)
c.4504C>G (p.Gln1502Glu)
7g.41964566G>TCA367314875GLI3c.4507C>A (p.Gln1503Lys)
c.4333C>A (p.Gln1445Lys)
n.4484C>A
c.4330C>A (p.Gln1444Lys)
c.4504C>A (p.Gln1502Lys)
7g.41964567T>ACA454657206GLI3c.4506A>T (p.Val1502=)
c.4332A>T (p.Val1444=)
n.4483A>T
c.4329A>T (p.Val1443=)
c.4503A>T (p.Val1501=)
 COSMIC
7g.41964567T>CCA454657209GLI3c.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
7g.41964567T>GCA454657207GLI3c.4506A>C (p.Val1502=)
c.4332A>C (p.Val1444=)
n.4483A>C
c.4329A>C (p.Val1443=)
c.4503A>C (p.Val1501=)
7g.41964568A>CCA367314877GLI3c.4505T>G (p.Val1502Gly)
c.4331T>G (p.Val1444Gly)
n.4482T>G
c.4328T>G (p.Val1443Gly)
c.4502T>G (p.Val1501Gly)
7g.41964568A>GCA367314878GLI3c.4505T>C (p.Val1502Ala)
c.4331T>C (p.Val1444Ala)
n.4482T>C
c.4328T>C (p.Val1443Ala)
c.4502T>C (p.Val1501Ala)
 gnomAD v4
7g.41964568A>TCA367314879GLI3c.4505T>A (p.Val1502Glu)
c.4331T>A (p.Val1444Glu)
n.4482T>A
c.4328T>A (p.Val1443Glu)
c.4502T>A (p.Val1501Glu)
7g.41964569C>ACA367314880GLI3c.4504G>T (p.Val1502Leu)
c.4330G>T (p.Val1444Leu)
n.4481G>T
c.4327G>T (p.Val1443Leu)
c.4501G>T (p.Val1501Leu)
7g.41964569C=CA1702660342GLI3c.4504G= (p.Val1502=)
c.4330G= (p.Val1444=)
n.4481G=
c.4327G= (p.Val1443=)
c.4501G= (p.Val1501=)
7g.41964569C>GCA367314881GLI3c.4504G>C (p.Val1502Leu)
c.4330G>C (p.Val1444Leu)
n.4481G>C
c.4327G>C (p.Val1443Leu)
c.4501G>C (p.Val1501Leu)
7g.41964569C>TCA367314882GLI3c.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
7g.41964570C>ACA454657217GLI3c.4503G>T (p.Gly1501=)
c.4329G>T (p.Gly1443=)
n.4480G>T
c.4326G>T (p.Gly1442=)
c.4500G>T (p.Gly1500=)
7g.41964570C>GCA454657219GLI3c.4503G>C (p.Gly1501=)
c.4329G>C (p.Gly1443=)
n.4480G>C
c.4326G>C (p.Gly1442=)
c.4500G>C (p.Gly1500=)
 gnomAD v4
7g.41964570C>TCA454657221GLI3c.4503G>A (p.Gly1501=)
c.4329G>A (p.Gly1443=)
n.4480G>A
c.4326G>A (p.Gly1442=)
c.4500G>A (p.Gly1500=)
7g.41964571C>ACA367314883GLI3c.4502G>T (p.Gly1501Val)
c.4328G>T (p.Gly1443Val)
n.4479G>T
c.4325G>T (p.Gly1442Val)
c.4499G>T (p.Gly1500Val)
7g.41964571C=CA1702660343GLI3c.4502G= (p.Gly1501=)
c.4328G= (p.Gly1443=)
n.4479G=
c.4325G= (p.Gly1442=)
c.4499G= (p.Gly1500=)
7g.41964571C>GCA367314884GLI3c.4502G>C (p.Gly1501Ala)
c.4328G>C (p.Gly1443Ala)
n.4479G>C
c.4325G>C (p.Gly1442Ala)
c.4499G>C (p.Gly1500Ala)
7g.41964571C>TCA367314885GLI3c.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
7g.41964572C>ACA367314886GLI3c.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
7g.41964572C=CA1702660344GLI3c.4501G= (p.Gly1501=)
c.4327G= (p.Gly1443=)
n.4478G=
c.4324G= (p.Gly1442=)
c.4498G= (p.Gly1500=)
7g.41964572C>GCA367314887GLI3c.4501G>C (p.Gly1501Arg)
c.4327G>C (p.Gly1443Arg)
n.4478G>C
c.4324G>C (p.Gly1442Arg)
c.4498G>C (p.Gly1500Arg)
7g.41964572C>TCA367314888GLI3c.4501G>A (p.Gly1501Arg)
c.4327G>A (p.Gly1443Arg)
n.4478G>A
c.4324G>A (p.Gly1442Arg)
c.4498G>A (p.Gly1500Arg)
7g.41964573T>ACA367314889GLI3c.4500A>T (p.Glu1500Asp)
c.4326A>T (p.Glu1442Asp)
n.4477A>T
c.4323A>T (p.Glu1441Asp)
c.4497A>T (p.Glu1499Asp)
7g.41964573T>CCA454657230GLI3c.4500A>G (p.Glu1500=)
c.4326A>G (p.Glu1442=)
n.4477A>G
c.4323A>G (p.Glu1441=)
c.4497A>G (p.Glu1499=)
 gnomAD v4
7g.41964573T>GCA367314890GLI3c.4500A>C (p.Glu1500Asp)
c.4326A>C (p.Glu1442Asp)
n.4477A>C
c.4323A>C (p.Glu1441Asp)
c.4497A>C (p.Glu1499Asp)
7g.41964574T>ACA367314891GLI3c.4499A>T (p.Glu1500Val)
c.4325A>T (p.Glu1442Val)
n.4476A>T
c.4322A>T (p.Glu1441Val)
c.4496A>T (p.Glu1499Val)
7g.41964574T>CCA367314892GLI3c.4499A>G (p.Glu1500Gly)
c.4325A>G (p.Glu1442Gly)
n.4476A>G
c.4322A>G (p.Glu1441Gly)
c.4496A>G (p.Glu1499Gly)
7g.41964574T>GCA367314893GLI3c.4499A>C (p.Glu1500Ala)
c.4325A>C (p.Glu1442Ala)
n.4476A>C
c.4322A>C (p.Glu1441Ala)
c.4496A>C (p.Glu1499Ala)
7g.41964575C>ACA367314894GLI3c.4498G>T (p.Glu1500Ter)
c.4324G>T (p.Glu1442Ter)
n.4475G>T
c.4321G>T (p.Glu1441Ter)
c.4495G>T (p.Glu1499Ter)
 ClinVar dbSNP
7g.41964575C=CA1702660345GLI3c.4498G= (p.Glu1500=)
c.4324G= (p.Glu1442=)
n.4475G=
c.4321G= (p.Glu1441=)
c.4495G= (p.Glu1499=)
7g.41964575C>GCA367314895GLI3c.4498G>C (p.Glu1500Gln)
c.4324G>C (p.Glu1442Gln)
n.4475G>C
c.4321G>C (p.Glu1441Gln)
c.4495G>C (p.Glu1499Gln)
7g.41964575C>TCA367314896GLI3c.4498G>A (p.Glu1500Lys)
c.4324G>A (p.Glu1442Lys)
n.4475G>A
c.4321G>A (p.Glu1441Lys)
c.4495G>A (p.Glu1499Lys)
7g.41964576C>ACA454657241GLI3c.4497G>T (p.Leu1499=)
c.4323G>T (p.Leu1441=)
n.4474G>T
c.4320G>T (p.Leu1440=)
c.4494G>T (p.Leu1498=)
7g.41964576C>GCA454657243GLI3c.4497G>C (p.Leu1499=)
c.4323G>C (p.Leu1441=)
n.4474G>C
c.4320G>C (p.Leu1440=)
c.4494G>C (p.Leu1498=)
7g.41964576C>TCA454657244GLI3c.4497G>A (p.Leu1499=)
c.4323G>A (p.Leu1441=)
n.4474G>A
c.4320G>A (p.Leu1440=)
c.4494G>A (p.Leu1498=)
7g.41964577A>CCA367314897GLI3c.4496T>G (p.Leu1499Arg)
c.4322T>G (p.Leu1441Arg)
n.4473T>G
c.4319T>G (p.Leu1440Arg)
c.4493T>G (p.Leu1498Arg)
7g.41964577A>GCA367314898GLI3c.4496T>C (p.Leu1499Pro)
c.4322T>C (p.Leu1441Pro)
n.4473T>C
c.4319T>C (p.Leu1440Pro)
c.4493T>C (p.Leu1498Pro)
7g.41964577A>TCA367314899GLI3c.4496T>A (p.Leu1499Gln)
c.4322T>A (p.Leu1441Gln)
n.4473T>A
c.4319T>A (p.Leu1440Gln)
c.4493T>A (p.Leu1498Gln)
7g.41964578G>ACA454657251GLI3c.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
7g.41964578G>CCA367314900GLI3c.4495C>G (p.Leu1499Val)
c.4321C>G (p.Leu1441Val)
n.4472C>G
c.4318C>G (p.Leu1440Val)
c.4492C>G (p.Leu1498Val)
 ClinVar
7g.41964578G=CA1702660346GLI3c.4495C= (p.Leu1499=)
c.4321C= (p.Leu1441=)
n.4472C=
c.4318C= (p.Leu1440=)
c.4492C= (p.Leu1498=)
7g.41964578G>TCA367314901GLI3c.4495C>A (p.Leu1499Met)
c.4321C>A (p.Leu1441Met)
n.4472C>A
c.4318C>A (p.Leu1440Met)
c.4492C>A (p.Leu1498Met)
7g.41964579G>ACA454657255GLI3c.4494C>T (p.Asp1498=)
c.4320C>T (p.Asp1440=)
n.4471C>T
c.4317C>T (p.Asp1439=)
c.4491C>T (p.Asp1497=)
7g.41964579G>CCA367314903GLI3c.4494C>G (p.Asp1498Glu)
c.4320C>G (p.Asp1440Glu)
n.4471C>G
c.4317C>G (p.Asp1439Glu)
c.4491C>G (p.Asp1497Glu)
7g.41964579G=CA1702660347GLI3c.4494C= (p.Asp1498=)
c.4320C= (p.Asp1440=)
n.4471C=
c.4317C= (p.Asp1439=)
c.4491C= (p.Asp1497=)
7g.41964579G>TCA367314902GLI3c.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
7g.41964580T>ACA367314904GLI3c.4493A>T (p.Asp1498Val)
c.4319A>T (p.Asp1440Val)
n.4470A>T
c.4316A>T (p.Asp1439Val)
c.4490A>T (p.Asp1497Val)
7g.41964580T>CCA367314905GLI3c.4493A>G (p.Asp1498Gly)
c.4319A>G (p.Asp1440Gly)
n.4470A>G
c.4316A>G (p.Asp1439Gly)
c.4490A>G (p.Asp1497Gly)
7g.41964580T>GCA367314906GLI3c.4493A>C (p.Asp1498Ala)
c.4319A>C (p.Asp1440Ala)
n.4470A>C
c.4316A>C (p.Asp1439Ala)
c.4490A>C (p.Asp1497Ala)
7g.41964581C>ACA367314907GLI3c.4492G>T (p.Asp1498Tyr)
c.4318G>T (p.Asp1440Tyr)
n.4469G>T
c.4315G>T (p.Asp1439Tyr)
c.4489G>T (p.Asp1497Tyr)
7g.41964581C>GCA367314908GLI3c.4492G>C (p.Asp1498His)
c.4318G>C (p.Asp1440His)
n.4469G>C
c.4315G>C (p.Asp1439His)
c.4489G>C (p.Asp1497His)
7g.41964581C>TCA367314909GLI3c.4492G>A (p.Asp1498Asn)
c.4318G>A (p.Asp1440Asn)
n.4469G>A
c.4315G>A (p.Asp1439Asn)
c.4489G>A (p.Asp1497Asn)
7g.41964582A>CCA367314910GLI3c.4491T>G (p.His1497Gln)
c.4317T>G (p.His1439Gln)
n.4468T>G
c.4314T>G (p.His1438Gln)
c.4488T>G (p.His1496Gln)
7g.41964582A>GCA454657267GLI3c.4491T>C (p.His1497=)
c.4317T>C (p.His1439=)
n.4468T>C
c.4314T>C (p.His1438=)
c.4488T>C (p.His1496=)
7g.41964582A>TCA367314911GLI3c.4491T>A (p.His1497Gln)
c.4317T>A (p.His1439Gln)
n.4468T>A
c.4314T>A (p.His1438Gln)
c.4488T>A (p.His1496Gln)
7g.41964583T>ACA367314912GLI3c.4490A>T (p.His1497Leu)
c.4316A>T (p.His1439Leu)
n.4467A>T
c.4313A>T (p.His1438Leu)
c.4487A>T (p.His1496Leu)
 gnomAD v4
7g.41964583T>CCA367314913GLI3c.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
7g.41964583T>GCA367314914GLI3c.4490A>C (p.His1497Pro)
c.4316A>C (p.His1439Pro)
n.4467A>C
c.4313A>C (p.His1438Pro)
c.4487A>C (p.His1496Pro)
7g.41964583T=CA1702660348GLI3c.4490A= (p.His1497=)
c.4316A= (p.His1439=)
n.4467A=
c.4313A= (p.His1438=)
c.4487A= (p.His1496=)
7g.41964584G>ACA367314915GLI3c.4489C>T (p.His1497Tyr)
c.4315C>T (p.His1439Tyr)
n.4466C>T
c.4312C>T (p.His1438Tyr)
c.4486C>T (p.His1496Tyr)
7g.41964584G>CCA367314916GLI3c.4489C>G (p.His1497Asp)
c.4315C>G (p.His1439Asp)
n.4466C>G
c.4312C>G (p.His1438Asp)
c.4486C>G (p.His1496Asp)
7g.41964584G>TCA367314917GLI3c.4489C>A (p.His1497Asn)
c.4315C>A (p.His1439Asn)
n.4466C>A
c.4312C>A (p.His1438Asn)
c.4486C>A (p.His1496Asn)
7g.41964585G>ACA454657277GLI3c.4488C>T (p.Ser1496=)
c.4314C>T (p.Ser1438=)
n.4465C>T
c.4311C>T (p.Ser1437=)
c.4485C>T (p.Ser1495=)
7g.41964585G>CCA367314918GLI3c.4488C>G (p.Ser1496Arg)
c.4314C>G (p.Ser1438Arg)
n.4465C>G
c.4311C>G (p.Ser1437Arg)
c.4485C>G (p.Ser1495Arg)
7g.41964585G>TCA367314919GLI3c.4488C>A (p.Ser1496Arg)
c.4314C>A (p.Ser1438Arg)
n.4465C>A
c.4311C>A (p.Ser1437Arg)
c.4485C>A (p.Ser1495Arg)
7g.41964586C>ACA367314920GLI3c.4487G>T (p.Ser1496Ile)
c.4313G>T (p.Ser1438Ile)
n.4464G>T
c.4310G>T (p.Ser1437Ile)
c.4484G>T (p.Ser1495Ile)
7g.41964586C=CA1702660349GLI3c.4487G= (p.Ser1496=)
c.4313G= (p.Ser1438=)
n.4464G=
c.4310G= (p.Ser1437=)
c.4484G= (p.Ser1495=)
7g.41964586C>GCA367314921GLI3c.4487G>C (p.Ser1496Thr)
c.4313G>C (p.Ser1438Thr)
n.4464G>C
c.4310G>C (p.Ser1437Thr)
c.4484G>C (p.Ser1495Thr)
7g.41964586C>TCA4230126GLI3c.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
7g.41964587T>ACA367314922GLI3c.4486A>T (p.Ser1496Cys)
c.4312A>T (p.Ser1438Cys)
n.4463A>T
c.4309A>T (p.Ser1437Cys)
c.4483A>T (p.Ser1495Cys)
7g.41964587T>CCA367314923GLI3c.4486A>G (p.Ser1496Gly)
c.4312A>G (p.Ser1438Gly)
n.4463A>G
c.4309A>G (p.Ser1437Gly)
c.4483A>G (p.Ser1495Gly)
7g.41964587T>GCA367314924GLI3c.4486A>C (p.Ser1496Arg)
c.4312A>C (p.Ser1438Arg)
n.4463A>C
c.4309A>C (p.Ser1437Arg)
c.4483A>C (p.Ser1495Arg)
7g.41964588G>ACA454657287GLI3c.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
7g.41964588G>CCA367314925GLI3c.4485C>G (p.Asp1495Glu)
c.4311C>G (p.Asp1437Glu)
n.4462C>G
c.4308C>G (p.Asp1436Glu)
c.4482C>G (p.Asp1494Glu)
7g.41964588G=CA1702660350GLI3c.4485C= (p.Asp1495=)
c.4311C= (p.Asp1437=)
n.4462C=
c.4308C= (p.Asp1436=)
c.4482C= (p.Asp1494=)
7g.41964588G>TCA367314926GLI3c.4485C>A (p.Asp1495Glu)
c.4311C>A (p.Asp1437Glu)
n.4462C>A
c.4308C>A (p.Asp1436Glu)
c.4482C>A (p.Asp1494Glu)
7g.41964589T>ACA367314927GLI3c.4484A>T (p.Asp1495Val)
c.4310A>T (p.Asp1437Val)
n.4461A>T
c.4307A>T (p.Asp1436Val)
c.4481A>T (p.Asp1494Val)
7g.41964589T>CCA367314928GLI3c.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
7g.41964589T>GCA367314929GLI3c.4484A>C (p.Asp1495Ala)
c.4310A>C (p.Asp1437Ala)
n.4461A>C
c.4307A>C (p.Asp1436Ala)
c.4481A>C (p.Asp1494Ala)
7g.41964589T=CA1702660351GLI3c.4484A= (p.Asp1495=)
c.4310A= (p.Asp1437=)
n.4461A=
c.4307A= (p.Asp1436=)
c.4481A= (p.Asp1494=)
7g.41964590C>ACA367314931GLI3c.4483G>T (p.Asp1495Tyr)
c.4309G>T (p.Asp1437Tyr)
n.4460G>T
c.4306G>T (p.Asp1436Tyr)
c.4480G>T (p.Asp1494Tyr)
7g.41964590C=CA1702660352GLI3c.4483G= (p.Asp1495=)
c.4309G= (p.Asp1437=)
n.4460G=
c.4306G= (p.Asp1436=)
c.4480G= (p.Asp1494=)
7g.41964590C>GCA367314930GLI3c.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
7g.41964590C>TCA4230127GLI3c.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
7g.41964591G>ACA454657298GLI3c.4482C>T (p.Leu1494=)
c.4308C>T (p.Leu1436=)
n.4459C>T
c.4305C>T (p.Leu1435=)
c.4479C>T (p.Leu1493=)
 gnomAD v4
7g.41964591G>CCA454657300GLI3c.4482C>G (p.Leu1494=)
c.4308C>G (p.Leu1436=)
n.4459C>G
c.4305C>G (p.Leu1435=)
c.4479C>G (p.Leu1493=)
7g.41964591G>TCA454657302GLI3c.4482C>A (p.Leu1494=)
c.4308C>A (p.Leu1436=)
n.4459C>A
c.4305C>A (p.Leu1435=)
c.4479C>A (p.Leu1493=)
7g.41964592A>CCA367314932GLI3c.4481T>G (p.Leu1494Arg)
c.4307T>G (p.Leu1436Arg)
n.4458T>G
c.4304T>G (p.Leu1435Arg)
c.4478T>G (p.Leu1493Arg)
7g.41964592A>GCA367314934GLI3c.4481T>C (p.Leu1494Pro)
c.4307T>C (p.Leu1436Pro)
n.4458T>C
c.4304T>C (p.Leu1435Pro)
c.4478T>C (p.Leu1493Pro)
7g.41964592A>TCA367314933GLI3c.4481T>A (p.Leu1494His)
c.4307T>A (p.Leu1436His)
n.4458T>A
c.4304T>A (p.Leu1435His)
c.4478T>A (p.Leu1493His)
7g.41964593G>ACA367314935GLI3c.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
7g.41964593G>CCA367314936GLI3c.4480C>G (p.Leu1494Val)
c.4306C>G (p.Leu1436Val)
n.4457C>G
c.4303C>G (p.Leu1435Val)
c.4477C>G (p.Leu1493Val)
7g.41964593G=CA1702660353GLI3c.4480C= (p.Leu1494=)
c.4306C= (p.Leu1436=)
n.4457C=
c.4303C= (p.Leu1435=)
c.4477C= (p.Leu1493=)
7g.41964593G>TCA367314937GLI3c.4480C>A (p.Leu1494Ile)
c.4306C>A (p.Leu1436Ile)
n.4457C>A
c.4303C>A (p.Leu1435Ile)
c.4477C>A (p.Leu1493Ile)
7g.41964594G>ACA454657312GLI3c.4479C>T (p.Ser1493=)
c.4305C>T (p.Ser1435=)
n.4456C>T
c.4302C>T (p.Ser1434=)
c.4476C>T (p.Ser1492=)
7g.41964594G>CCA367314938GLI3c.4479C>G (p.Ser1493Arg)
c.4305C>G (p.Ser1435Arg)
n.4456C>G
c.4302C>G (p.Ser1434Arg)
c.4476C>G (p.Ser1492Arg)
7g.41964594G>TCA367314939GLI3c.4479C>A (p.Ser1493Arg)
c.4305C>A (p.Ser1435Arg)
n.4456C>A
c.4302C>A (p.Ser1434Arg)
c.4476C>A (p.Ser1492Arg)
 gnomAD v4
7g.41964595C>ACA367314940GLI3c.4478G>T (p.Ser1493Ile)
c.4304G>T (p.Ser1435Ile)
n.4455G>T
c.4301G>T (p.Ser1434Ile)
c.4475G>T (p.Ser1492Ile)
7g.41964595C>GCA367314941GLI3c.4478G>C (p.Ser1493Thr)
c.4304G>C (p.Ser1435Thr)
n.4455G>C
c.4301G>C (p.Ser1434Thr)
c.4475G>C (p.Ser1492Thr)
7g.41964595C>TCA367314942GLI3c.4478G>A (p.Ser1493Asn)
c.4304G>A (p.Ser1435Asn)
n.4455G>A
c.4301G>A (p.Ser1434Asn)
c.4475G>A (p.Ser1492Asn)
 gnomAD v4
7g.41964596T>ACA367314943GLI3c.4477A>T (p.Ser1493Cys)
c.4303A>T (p.Ser1435Cys)
n.4454A>T
c.4300A>T (p.Ser1434Cys)
c.4474A>T (p.Ser1492Cys)
7g.41964596T>CCA367314944GLI3c.4477A>G (p.Ser1493Gly)
c.4303A>G (p.Ser1435Gly)
n.4454A>G
c.4300A>G (p.Ser1434Gly)
c.4474A>G (p.Ser1492Gly)
 ClinVar dbSNP
7g.41964596T>GCA367314945GLI3c.4477A>C (p.Ser1493Arg)
c.4303A>C (p.Ser1435Arg)
n.4454A>C
c.4300A>C (p.Ser1434Arg)
c.4474A>C (p.Ser1492Arg)
7g.41964597G>ACA454657323GLI3c.4476C>T (p.Asp1492=)
c.4302C>T (p.Asp1434=)
n.4453C>T
c.4299C>T (p.Asp1433=)
c.4473C>T (p.Asp1491=)
7g.41964597G>CCA367314947GLI3c.4476C>G (p.Asp1492Glu)
c.4302C>G (p.Asp1434Glu)
n.4453C>G
c.4299C>G (p.Asp1433Glu)
c.4473C>G (p.Asp1491Glu)
7g.41964597G>TCA367314946GLI3c.4476C>A (p.Asp1492Glu)
c.4302C>A (p.Asp1434Glu)
n.4453C>A
c.4299C>A (p.Asp1433Glu)
c.4473C>A (p.Asp1491Glu)
7g.41964598T>ACA367314948GLI3c.4475A>T (p.Asp1492Val)
c.4301A>T (p.Asp1434Val)
n.4452A>T
c.4298A>T (p.Asp1433Val)
c.4472A>T (p.Asp1491Val)
7g.41964598T>CCA367314949GLI3c.4475A>G (p.Asp1492Gly)
c.4301A>G (p.Asp1434Gly)
n.4452A>G
c.4298A>G (p.Asp1433Gly)
c.4472A>G (p.Asp1491Gly)
7g.41964598T>GCA367314950GLI3c.4475A>C (p.Asp1492Ala)
c.4301A>C (p.Asp1434Ala)
n.4452A>C
c.4298A>C (p.Asp1433Ala)
c.4472A>C (p.Asp1491Ala)
7g.41964599C>ACA367314951GLI3c.4474G>T (p.Asp1492Tyr)
c.4300G>T (p.Asp1434Tyr)
n.4451G>T
c.4297G>T (p.Asp1433Tyr)
c.4471G>T (p.Asp1491Tyr)
7g.41964599C=CA1702660354GLI3c.4474G= (p.Asp1492=)
c.4300G= (p.Asp1434=)
n.4451G=
c.4297G= (p.Asp1433=)
c.4471G= (p.Asp1491=)
7g.41964599C>GCA367314952GLI3c.4474G>C (p.Asp1492His)
c.4300G>C (p.Asp1434His)
n.4451G>C
c.4297G>C (p.Asp1433His)
c.4471G>C (p.Asp1491His)
7g.41964599C>TCA367314953GLI3c.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
7g.41964600C>ACA454657336GLI3c.4473G>T (p.Val1491=)
c.4299G>T (p.Val1433=)
n.4450G>T
c.4296G>T (p.Val1432=)
c.4470G>T (p.Val1490=)
 gnomAD v4
7g.41964600C>GCA454657340GLI3c.4473G>C (p.Val1491=)
c.4299G>C (p.Val1433=)
n.4450G>C
c.4296G>C (p.Val1432=)
c.4470G>C (p.Val1490=)
 gnomAD v4
7g.41964600C>TCA454657338GLI3c.4473G>A (p.Val1491=)
c.4299G>A (p.Val1433=)
n.4450G>A
c.4296G>A (p.Val1432=)
c.4470G>A (p.Val1490=)
 gnomAD v4
7g.41964601A=CA1702660355GLI3c.4472T= (p.Val1491=)
c.4298T= (p.Val1433=)
n.4449T=
c.4295T= (p.Val1432=)
c.4469T= (p.Val1490=)
7g.41964601A>CCA367314954GLI3c.4472T>G (p.Val1491Gly)
c.4298T>G (p.Val1433Gly)
n.4449T>G
c.4295T>G (p.Val1432Gly)
c.4469T>G (p.Val1490Gly)
7g.41964601A>GCA367314955GLI3c.4472T>C (p.Val1491Ala)
c.4298T>C (p.Val1433Ala)
n.4449T>C
c.4295T>C (p.Val1432Ala)
c.4469T>C (p.Val1490Ala)
 gnomAD v4
7g.41964601A>TCA367314956GLI3c.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
7g.41964602C>ACA367314957GLI3c.4471G>T (p.Val1491Leu)
c.4297G>T (p.Val1433Leu)
n.4448G>T
c.4294G>T (p.Val1432Leu)
c.4468G>T (p.Val1490Leu)
7g.41964602C>GCA367314958GLI3c.4471G>C (p.Val1491Leu)
c.4297G>C (p.Val1433Leu)
n.4448G>C
c.4294G>C (p.Val1432Leu)
c.4468G>C (p.Val1490Leu)
7g.41964602C>TCA367314959GLI3c.4471G>A (p.Val1491Met)
c.4297G>A (p.Val1433Met)
n.4448G>A
c.4294G>A (p.Val1432Met)
c.4468G>A (p.Val1490Met)
7g.41964603T>ACA454657351GLI3c.4470A>T (p.Thr1490=)
c.4296A>T (p.Thr1432=)
n.4447A>T
c.4293A>T (p.Thr1431=)
c.4467A>T (p.Thr1489=)
7g.41964603T>CCA454657352GLI3c.4470A>G (p.Thr1490=)
c.4296A>G (p.Thr1432=)
n.4447A>G
c.4293A>G (p.Thr1431=)
c.4467A>G (p.Thr1489=)
 gnomAD v4
7g.41964603T>GCA454657354GLI3c.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
7g.41964603T=CA1702660356GLI3c.4470A= (p.Thr1490=)
c.4296A= (p.Thr1432=)
n.4447A=
c.4293A= (p.Thr1431=)
c.4467A= (p.Thr1489=)
7g.41964604G>ACA367314961GLI3c.4469C>T (p.Thr1490Ile)
c.4295C>T (p.Thr1432Ile)
n.4446C>T
c.4292C>T (p.Thr1431Ile)
c.4466C>T (p.Thr1489Ile)
7g.41964604G>CCA367314962GLI3c.4469C>G (p.Thr1490Arg)
c.4295C>G (p.Thr1432Arg)
n.4446C>G
c.4292C>G (p.Thr1431Arg)
c.4466C>G (p.Thr1489Arg)
 gnomAD v4
7g.41964604G>TCA367314960GLI3c.4469C>A (p.Thr1490Lys)
c.4295C>A (p.Thr1432Lys)
n.4446C>A
c.4292C>A (p.Thr1431Lys)
c.4466C>A (p.Thr1489Lys)
7g.41964605T>ACA367314963GLI3c.4468A>T (p.Thr1490Ser)
c.4294A>T (p.Thr1432Ser)
n.4445A>T
c.4291A>T (p.Thr1431Ser)
c.4465A>T (p.Thr1489Ser)
7g.41964605T>CCA367314964GLI3c.4468A>G (p.Thr1490Ala)
c.4294A>G (p.Thr1432Ala)
n.4445A>G
c.4291A>G (p.Thr1431Ala)
c.4465A>G (p.Thr1489Ala)
7g.41964605T>GCA367314965GLI3c.4468A>C (p.Thr1490Pro)
c.4294A>C (p.Thr1432Pro)
n.4445A>C
c.4291A>C (p.Thr1431Pro)
c.4465A>C (p.Thr1489Pro)
7g.41964606G>ACA454657360GLI3c.4467C>T (p.Ser1489=)
c.4293C>T (p.Ser1431=)
n.4444C>T
c.4290C>T (p.Ser1430=)
c.4464C>T (p.Ser1488=)
7g.41964606G>CCA367314966GLI3c.4467C>G (p.Ser1489Arg)
c.4293C>G (p.Ser1431Arg)
n.4444C>G
c.4290C>G (p.Ser1430Arg)
c.4464C>G (p.Ser1488Arg)
7g.41964606G>TCA367314967GLI3c.4467C>A (p.Ser1489Arg)
c.4293C>A (p.Ser1431Arg)
n.4444C>A
c.4290C>A (p.Ser1430Arg)
c.4464C>A (p.Ser1488Arg)
7g.41964607C>ACA367314970GLI3c.4466G>T (p.Ser1489Ile)
c.4292G>T (p.Ser1431Ile)
n.4443G>T
c.4289G>T (p.Ser1430Ile)
c.4463G>T (p.Ser1488Ile)
7g.41964607C=CA1702660357GLI3c.4466G= (p.Ser1489=)
c.4292G= (p.Ser1431=)
n.4443G=
c.4289G= (p.Ser1430=)
c.4463G= (p.Ser1488=)
7g.41964607C>GCA367314969GLI3c.4466G>C (p.Ser1489Thr)
c.4292G>C (p.Ser1431Thr)
n.4443G>C
c.4289G>C (p.Ser1430Thr)
c.4463G>C (p.Ser1488Thr)
7g.41964607C>TCA367314968GLI3c.4466G>A (p.Ser1489Asn)
c.4292G>A (p.Ser1431Asn)
n.4443G>A
c.4289G>A (p.Ser1430Asn)
c.4463G>A (p.Ser1488Asn)
 dbSNP
7g.41964608T>ACA367314971GLI3c.4465A>T (p.Ser1489Cys)
c.4291A>T (p.Ser1431Cys)
n.4442A>T
c.4288A>T (p.Ser1430Cys)
c.4462A>T (p.Ser1488Cys)
7g.41964608T>CCA367314972GLI3c.4465A>G (p.Ser1489Gly)
c.4291A>G (p.Ser1431Gly)
n.4442A>G
c.4288A>G (p.Ser1430Gly)
c.4462A>G (p.Ser1488Gly)
7g.41964608T>GCA367314973GLI3c.4465A>C (p.Ser1489Arg)
c.4291A>C (p.Ser1431Arg)
n.4442A>C
c.4288A>C (p.Ser1430Arg)
c.4462A>C (p.Ser1488Arg)
7g.41964609dupCA658769459GLI3c.4465dup (p.Ser1489LysfsTer10)
c.4291dup (p.Ser1431LysfsTer10)
n.4442dup
c.4288dup (p.Ser1430LysfsTer10)
c.4462dup (p.Ser1488LysfsTer10)
7g.41964609T>ACA454657361GLI3c.4464A>T (p.Thr1488=)
c.4290A>T (p.Thr1430=)
n.4441A>T
c.4287A>T (p.Thr1429=)
c.4461A>T (p.Thr1487=)
7g.41964609T>CCA454657362GLI3c.4464A>G (p.Thr1488=)
c.4290A>G (p.Thr1430=)
n.4441A>G
c.4287A>G (p.Thr1429=)
c.4461A>G (p.Thr1487=)
7g.41964609T>GCA454657363GLI3c.4464A>C (p.Thr1488=)
c.4290A>C (p.Thr1430=)
n.4441A>C
c.4287A>C (p.Thr1429=)
c.4461A>C (p.Thr1487=)
7g.41964610delCA2695207612GLI3c.4463del (p.Thr1488LysfsTer23)
c.4289del (p.Thr1430LysfsTer23)
n.4440del
c.4286del (p.Thr1429LysfsTer23)
c.4460del (p.Thr1487LysfsTer23)
7g.41964610G>ACA367314974GLI3c.4463C>T (p.Thr1488Ile)
c.4289C>T (p.Thr1430Ile)
n.4440C>T
c.4286C>T (p.Thr1429Ile)
c.4460C>T (p.Thr1487Ile)
 gnomAD v4
7g.41964610G>CCA367314975GLI3c.4463C>G (p.Thr1488Arg)
c.4289C>G (p.Thr1430Arg)
n.4440C>G
c.4286C>G (p.Thr1429Arg)
c.4460C>G (p.Thr1487Arg)
7g.41964610G=CA1702660358GLI3c.4463C= (p.Thr1488=)
c.4289C= (p.Thr1430=)
n.4440C=
c.4286C= (p.Thr1429=)
c.4460C= (p.Thr1487=)
7g.41964610G>TCA367314976GLI3c.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
7g.41964611T>ACA367314977GLI3c.4462A>T (p.Thr1488Ser)
c.4288A>T (p.Thr1430Ser)
n.4439A>T
c.4285A>T (p.Thr1429Ser)
c.4459A>T (p.Thr1487Ser)
7g.41964611T>CCA367314979GLI3c.4462A>G (p.Thr1488Ala)
c.4288A>G (p.Thr1430Ala)
n.4439A>G
c.4285A>G (p.Thr1429Ala)
c.4459A>G (p.Thr1487Ala)
 gnomAD v4
7g.41964611T>GCA367314978GLI3c.4462A>C (p.Thr1488Pro)
c.4288A>C (p.Thr1430Pro)
n.4439A>C
c.4285A>C (p.Thr1429Pro)
c.4459A>C (p.Thr1487Pro)
7g.41964612C>ACA454657364GLI3c.4461G>T (p.Val1487=)
c.4287G>T (p.Val1429=)
n.4438G>T
c.4284G>T (p.Val1428=)
c.4458G>T (p.Val1486=)
7g.41964612C>GCA454657365GLI3c.4461G>C (p.Val1487=)
c.4287G>C (p.Val1429=)
n.4438G>C
c.4284G>C (p.Val1428=)
c.4458G>C (p.Val1486=)
 gnomAD v4
7g.41964612C>TCA454657366GLI3c.4461G>A (p.Val1487=)
c.4287G>A (p.Val1429=)
n.4438G>A
c.4284G>A (p.Val1428=)
c.4458G>A (p.Val1486=)
 gnomAD v4
7g.41964613A>CCA367314980GLI3c.4460T>G (p.Val1487Gly)
c.4286T>G (p.Val1429Gly)
n.4437T>G
c.4283T>G (p.Val1428Gly)
c.4457T>G (p.Val1486Gly)
7g.41964613A>GCA367314981GLI3c.4460T>C (p.Val1487Ala)
c.4286T>C (p.Val1429Ala)
n.4437T>C
c.4283T>C (p.Val1428Ala)
c.4457T>C (p.Val1486Ala)
7g.41964613A>TCA367314982GLI3c.4460T>A (p.Val1487Glu)
c.4286T>A (p.Val1429Glu)
n.4437T>A
c.4283T>A (p.Val1428Glu)
c.4457T>A (p.Val1486Glu)
7g.41964614C>ACA367314983GLI3c.4459G>T (p.Val1487Leu)
c.4285G>T (p.Val1429Leu)
n.4436G>T
c.4282G>T (p.Val1428Leu)
c.4456G>T (p.Val1486Leu)
7g.41964614C>GCA367314984GLI3c.4459G>C (p.Val1487Leu)
c.4285G>C (p.Val1429Leu)
n.4436G>C
c.4282G>C (p.Val1428Leu)
c.4456G>C (p.Val1486Leu)
7g.41964614C>TCA367314985GLI3c.4459G>A (p.Val1487Met)
c.4285G>A (p.Val1429Met)
n.4436G>A
c.4282G>A (p.Val1428Met)
c.4456G>A (p.Val1486Met)
7g.41964615C>ACA367314986GLI3c.4458G>T (p.Gln1486His)
c.4284G>T (p.Gln1428His)
n.4435G>T
c.4281G>T (p.Gln1427His)
c.4455G>T (p.Gln1485His)
7g.41964615C=CA1702660359GLI3c.4458G= (p.Gln1486=)
c.4284G= (p.Gln1428=)
n.4435G=
c.4281G= (p.Gln1427=)
c.4455G= (p.Gln1485=)
7g.41964615C>GCA367314987GLI3c.4458G>C (p.Gln1486His)
c.4284G>C (p.Gln1428His)
n.4435G>C
c.4281G>C (p.Gln1427His)
c.4455G>C (p.Gln1485His)
7g.41964615C>TCA4230128GLI3c.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
7g.41964616T>ACA367314988GLI3c.4457A>T (p.Gln1486Leu)
c.4283A>T (p.Gln1428Leu)
n.4434A>T
c.4280A>T (p.Gln1427Leu)
c.4454A>T (p.Gln1485Leu)
7g.41964616T>CCA367314989GLI3c.4457A>G (p.Gln1486Arg)
c.4283A>G (p.Gln1428Arg)
n.4434A>G
c.4280A>G (p.Gln1427Arg)
c.4454A>G (p.Gln1485Arg)
7g.41964616T>GCA367314990GLI3c.4457A>C (p.Gln1486Pro)
c.4283A>C (p.Gln1428Pro)
n.4434A>C
c.4280A>C (p.Gln1427Pro)
c.4454A>C (p.Gln1485Pro)
7g.41964617G>ACA367314992GLI3c.4456C>T (p.Gln1486Ter)
c.4282C>T (p.Gln1428Ter)
n.4433C>T
c.4279C>T (p.Gln1427Ter)
c.4453C>T (p.Gln1485Ter)
7g.41964617G>CCA367314993GLI3c.4456C>G (p.Gln1486Glu)
c.4282C>G (p.Gln1428Glu)
n.4433C>G
c.4279C>G (p.Gln1427Glu)
c.4453C>G (p.Gln1485Glu)
7g.41964617G>TCA367314991GLI3c.4456C>A (p.Gln1486Lys)
c.4282C>A (p.Gln1428Lys)
n.4433C>A
c.4279C>A (p.Gln1427Lys)
c.4453C>A (p.Gln1485Lys)
7g.41964618A=CA1702660360GLI3c.4455T= (p.Asn1485=)
c.4281T= (p.Asn1427=)
n.4432T=
c.4278T= (p.Asn1426=)
c.4452T= (p.Asn1484=)
7g.41964618A>CCA367314994GLI3c.4455T>G (p.Asn1485Lys)
c.4281T>G (p.Asn1427Lys)
n.4432T>G
c.4278T>G (p.Asn1426Lys)
c.4452T>G (p.Asn1484Lys)
7g.41964618A>GCA454657367GLI3c.4455T>C (p.Asn1485=)
c.4281T>C (p.Asn1427=)
n.4432T>C
c.4278T>C (p.Asn1426=)
c.4452T>C (p.Asn1484=)
7g.41964618A>TCA156902015GLI3c.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
7g.41964619T>ACA367314996GLI3c.4454A>T (p.Asn1485Ile)
c.4280A>T (p.Asn1427Ile)
n.4431A>T
c.4277A>T (p.Asn1426Ile)
c.4451A>T (p.Asn1484Ile)
7g.41964619T>CCA367314995GLI3c.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
7g.41964619T>GCA367314997GLI3c.4454A>C (p.Asn1485Thr)
c.4280A>C (p.Asn1427Thr)
n.4431A>C
c.4277A>C (p.Asn1426Thr)
c.4451A>C (p.Asn1484Thr)
7g.41964619T=CA1702660361GLI3c.4454A= (p.Asn1485=)
c.4280A= (p.Asn1427=)
n.4431A=
c.4277A= (p.Asn1426=)
c.4451A= (p.Asn1484=)
7g.41964620T>ACA367314998GLI3c.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
7g.41964620T>CCA367314999GLI3c.4453A>G (p.Asn1485Asp)
c.4279A>G (p.Asn1427Asp)
n.4430A>G
c.4276A>G (p.Asn1426Asp)
c.4450A>G (p.Asn1484Asp)
 gnomAD v4
7g.41964620T>GCA367315000GLI3c.4453A>C (p.Asn1485His)
c.4279A>C (p.Asn1427His)
n.4430A>C
c.4276A>C (p.Asn1426His)
c.4450A>C (p.Asn1484His)
 gnomAD v4
7g.41964621A>CCA454657370GLI3c.4452T>G (p.Ala1484=)
c.4278T>G (p.Ala1426=)
n.4429T>G
c.4275T>G (p.Ala1425=)
c.4449T>G (p.Ala1483=)
7g.41964621A>GCA454657368GLI3c.4452T>C (p.Ala1484=)
c.4278T>C (p.Ala1426=)
n.4429T>C
c.4275T>C (p.Ala1425=)
c.4449T>C (p.Ala1483=)
 gnomAD v4
7g.41964621A>TCA454657369GLI3c.4452T>A (p.Ala1484=)
c.4278T>A (p.Ala1426=)
n.4429T>A
c.4275T>A (p.Ala1425=)
c.4449T>A (p.Ala1483=)
7g.41964622G>ACA367315001GLI3c.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
7g.41964622G>CCA367315002GLI3c.4451C>G (p.Ala1484Gly)
c.4277C>G (p.Ala1426Gly)
n.4428C>G
c.4274C>G (p.Ala1425Gly)
c.4448C>G (p.Ala1483Gly)
 gnomAD v4
7g.41964622G=CA1702660362GLI3c.4451C= (p.Ala1484=)
c.4277C= (p.Ala1426=)
n.4428C=
c.4274C= (p.Ala1425=)
c.4448C= (p.Ala1483=)
7g.41964622G>TCA367315003GLI3c.4451C>A (p.Ala1484Asp)
c.4277C>A (p.Ala1426Asp)
n.4428C>A
c.4274C>A (p.Ala1425Asp)
c.4448C>A (p.Ala1483Asp)
 gnomAD v4
7g.41964623C>ACA367315004GLI3c.4450G>T (p.Ala1484Ser)
c.4276G>T (p.Ala1426Ser)
n.4427G>T
c.4273G>T (p.Ala1425Ser)
c.4447G>T (p.Ala1483Ser)
7g.41964623C=CA1702660363GLI3c.4450G= (p.Ala1484=)
c.4276G= (p.Ala1426=)
n.4427G=
c.4273G= (p.Ala1425=)
c.4447G= (p.Ala1483=)
7g.41964623C>GCA367315005GLI3c.4450G>C (p.Ala1484Pro)
c.4276G>C (p.Ala1426Pro)
n.4427G>C
c.4273G>C (p.Ala1425Pro)
c.4447G>C (p.Ala1483Pro)
7g.41964623C>TCA367315006GLI3c.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
7g.41964624A>CCA454657371GLI3c.4449T>G (p.Gly1483=)
c.4275T>G (p.Gly1425=)
n.4426T>G
c.4272T>G (p.Gly1424=)
c.4446T>G (p.Gly1482=)
7g.41964624A>GCA454657372GLI3c.4449T>C (p.Gly1483=)
c.4275T>C (p.Gly1425=)
n.4426T>C
c.4272T>C (p.Gly1424=)
c.4446T>C (p.Gly1482=)
7g.41964624A>TCA454657373GLI3c.4449T>A (p.Gly1483=)
c.4275T>A (p.Gly1425=)
n.4426T>A
c.4272T>A (p.Gly1424=)
c.4446T>A (p.Gly1482=)
7g.41964625C>ACA367315007GLI3c.4448G>T (p.Gly1483Val)
c.4274G>T (p.Gly1425Val)
n.4425G>T
c.4271G>T (p.Gly1424Val)
c.4445G>T (p.Gly1482Val)
7g.41964625C>GCA367315008GLI3c.4448G>C (p.Gly1483Ala)
c.4274G>C (p.Gly1425Ala)
n.4425G>C
c.4271G>C (p.Gly1424Ala)
c.4445G>C (p.Gly1482Ala)
7g.41964625C>TCA367315009GLI3c.4448G>A (p.Gly1483Asp)
c.4274G>A (p.Gly1425Asp)
n.4425G>A
c.4271G>A (p.Gly1424Asp)
c.4445G>A (p.Gly1482Asp)
7g.41964626C>ACA367315010GLI3c.4447G>T (p.Gly1483Cys)
c.4273G>T (p.Gly1425Cys)
n.4424G>T
c.4270G>T (p.Gly1424Cys)
c.4444G>T (p.Gly1482Cys)
 COSMIC
7g.41964626C>GCA367315012GLI3c.4447G>C (p.Gly1483Arg)
c.4273G>C (p.Gly1425Arg)
n.4424G>C
c.4270G>C (p.Gly1424Arg)
c.4444G>C (p.Gly1482Arg)
 gnomAD v4
7g.41964626C>TCA367315011GLI3c.4447G>A (p.Gly1483Ser)
c.4273G>A (p.Gly1425Ser)
n.4424G>A
c.4270G>A (p.Gly1424Ser)
c.4444G>A (p.Gly1482Ser)
 gnomAD v4
7g.41964627T>ACA454657374GLI3c.4446A>T (p.Pro1482=)
c.4272A>T (p.Pro1424=)
n.4423A>T
c.4269A>T (p.Pro1423=)
c.4443A>T (p.Pro1481=)
7g.41964627T>CCA454657375GLI3c.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
7g.41964627T>GCA454657376GLI3c.4446A>C (p.Pro1482=)
c.4272A>C (p.Pro1424=)
n.4423A>C
c.4269A>C (p.Pro1423=)
c.4443A>C (p.Pro1481=)
 dbSNP
7g.41964627T=CA1702660364GLI3c.4446A= (p.Pro1482=)
c.4272A= (p.Pro1424=)
n.4423A=
c.4269A= (p.Pro1423=)
c.4443A= (p.Pro1481=)
7g.41964628G>ACA4230129GLI3c.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
7g.41964628G>CCA367315013GLI3c.4445C>G (p.Pro1482Arg)
c.4271C>G (p.Pro1424Arg)
n.4422C>G
c.4268C>G (p.Pro1423Arg)
c.4442C>G (p.Pro1481Arg)
7g.41964628G=CA1702660365GLI3c.4445C= (p.Pro1482=)
c.4271C= (p.Pro1424=)
n.4422C=
c.4268C= (p.Pro1423=)
c.4442C= (p.Pro1481=)
7g.41964628G>TCA367315014GLI3c.4445C>A (p.Pro1482Gln)
c.4271C>A (p.Pro1424Gln)
n.4422C>A
c.4268C>A (p.Pro1423Gln)
c.4442C>A (p.Pro1481Gln)
7g.41964629G>ACA367315015GLI3c.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
7g.41964629G>CCA4230130GLI3c.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
7g.41964629G=CA1702660366GLI3c.4444C= (p.Pro1482=)
c.4270C= (p.Pro1424=)
n.4421C=
c.4267C= (p.Pro1423=)
c.4441C= (p.Pro1481=)
7g.41964629G>TCA367315016GLI3c.4444C>A (p.Pro1482Thr)
c.4270C>A (p.Pro1424Thr)
n.4421C>A
c.4267C>A (p.Pro1423Thr)
c.4441C>A (p.Pro1481Thr)
7g.41964630G>ACA4230131GLI3c.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
7g.41964630G>CCA454657377GLI3c.4443C>G (p.Ser1481=)
c.4269C>G (p.Ser1423=)
n.4420C>G
c.4266C>G (p.Ser1422=)
c.4440C>G (p.Ser1480=)
7g.41964630G=CA1702660367GLI3c.4443C= (p.Ser1481=)
c.4269C= (p.Ser1423=)
n.4420C=
c.4266C= (p.Ser1422=)
c.4440C= (p.Ser1480=)
7g.41964630G>TCA454657378GLI3c.4443C>A (p.Ser1481=)
c.4269C>A (p.Ser1423=)
n.4420C>A
c.4266C>A (p.Ser1422=)
c.4440C>A (p.Ser1480=)
7g.41964631G>ACA367315017GLI3c.4442C>T (p.Ser1481Phe)
c.4268C>T (p.Ser1423Phe)
n.4419C>T
c.4265C>T (p.Ser1422Phe)
c.4439C>T (p.Ser1480Phe)
 dbSNP
7g.41964631G>CCA367315018GLI3c.4442C>G (p.Ser1481Cys)
c.4268C>G (p.Ser1423Cys)
n.4419C>G
c.4265C>G (p.Ser1422Cys)
c.4439C>G (p.Ser1480Cys)
7g.41964631G=CA1702660368GLI3c.4442C= (p.Ser1481=)
c.4268C= (p.Ser1423=)
n.4419C=
c.4265C= (p.Ser1422=)
c.4439C= (p.Ser1480=)
7g.41964631G>TCA367315019GLI3c.4442C>A (p.Ser1481Tyr)
c.4268C>A (p.Ser1423Tyr)
n.4419C>A
c.4265C>A (p.Ser1422Tyr)
c.4439C>A (p.Ser1480Tyr)
7g.41964632A>CCA367315021GLI3c.4441T>G (p.Ser1481Ala)
c.4267T>G (p.Ser1423Ala)
n.4418T>G
c.4264T>G (p.Ser1422Ala)
c.4438T>G (p.Ser1480Ala)
7g.41964632A>GCA367315022GLI3c.4441T>C (p.Ser1481Pro)
c.4267T>C (p.Ser1423Pro)
n.4418T>C
c.4264T>C (p.Ser1422Pro)
c.4438T>C (p.Ser1480Pro)
7g.41964632A>TCA367315020GLI3c.4441T>A (p.Ser1481Thr)
c.4267T>A (p.Ser1423Thr)
n.4418T>A
c.4264T>A (p.Ser1422Thr)
c.4438T>A (p.Ser1480Thr)

Number of alleles fetched