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.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)
7g.41964633A>CCA454657379GLI3c.4440T>G (p.Leu1480=)
c.4266T>G (p.Leu1422=)
n.4417T>G
c.4263T>G (p.Leu1421=)
c.4437T>G (p.Leu1479=)
7g.41964633A>GCA454657380GLI3c.4440T>C (p.Leu1480=)
c.4266T>C (p.Leu1422=)
n.4417T>C
c.4263T>C (p.Leu1421=)
c.4437T>C (p.Leu1479=)
7g.41964633A>TCA454657381GLI3c.4440T>A (p.Leu1480=)
c.4266T>A (p.Leu1422=)
n.4417T>A
c.4263T>A (p.Leu1421=)
c.4437T>A (p.Leu1479=)
7g.41964633_41964643delinsAAGTAACTCAGCA1702660369GLI3c.4430_4440delinsCTGAGTTACTT (p.Ser1477=)
c.4256_4266delinsCTGAGTTACTT (p.Ser1419=)
n.4407_4417delinsCTGAGTTACTT
c.4253_4263delinsCTGAGTTACTT (p.Ser1418=)
c.4427_4437delinsCTGAGTTACTT (p.Ser1476=)
7g.41964634A>CCA367315023GLI3c.4439T>G (p.Leu1480Arg)
c.4265T>G (p.Leu1422Arg)
n.4416T>G
c.4262T>G (p.Leu1421Arg)
c.4436T>G (p.Leu1479Arg)
7g.41964634A>GCA367315024GLI3c.4439T>C (p.Leu1480Pro)
c.4265T>C (p.Leu1422Pro)
n.4416T>C
c.4262T>C (p.Leu1421Pro)
c.4436T>C (p.Leu1479Pro)
7g.41964634A>TCA367315025GLI3c.4439T>A (p.Leu1480His)
c.4265T>A (p.Leu1422His)
n.4416T>A
c.4262T>A (p.Leu1421His)
c.4436T>A (p.Leu1479His)
7g.41964637_41964646delCA1139660044GLI3c.4430_4439del (p.Ser1477PhefsTer8)
c.4256_4265del (p.Ser1419PhefsTer8)
n.4407_4416del
c.4253_4262del (p.Ser1418PhefsTer8)
c.4427_4436del (p.Ser1476PhefsTer8)
 ClinVar dbSNP
7g.41964635G>ACA367315026GLI3c.4438C>T (p.Leu1480Phe)
c.4264C>T (p.Leu1422Phe)
n.4415C>T
c.4261C>T (p.Leu1421Phe)
c.4435C>T (p.Leu1479Phe)
7g.41964635G>CCA367315027GLI3c.4438C>G (p.Leu1480Val)
c.4264C>G (p.Leu1422Val)
n.4415C>G
c.4261C>G (p.Leu1421Val)
c.4435C>G (p.Leu1479Val)
7g.41964635G>TCA367315028GLI3c.4438C>A (p.Leu1480Ile)
c.4264C>A (p.Leu1422Ile)
n.4415C>A
c.4261C>A (p.Leu1421Ile)
c.4435C>A (p.Leu1479Ile)
7g.41964636T>ACA367315029GLI3c.4437A>T (p.Leu1479Phe)
c.4263A>T (p.Leu1421Phe)
n.4414A>T
c.4260A>T (p.Leu1420Phe)
c.4434A>T (p.Leu1478Phe)
7g.41964636T>CCA454657382GLI3c.4437A>G (p.Leu1479=)
c.4263A>G (p.Leu1421=)
n.4414A>G
c.4260A>G (p.Leu1420=)
c.4434A>G (p.Leu1478=)
 dbSNP gnomAD v3 gnomAD v4
7g.41964636T>GCA367315030GLI3c.4437A>C (p.Leu1479Phe)
c.4263A>C (p.Leu1421Phe)
n.4414A>C
c.4260A>C (p.Leu1420Phe)
c.4434A>C (p.Leu1478Phe)
7g.41964636T=CA1702660370GLI3c.4437A= (p.Leu1479=)
c.4263A= (p.Leu1421=)
n.4414A=
c.4260A= (p.Leu1420=)
c.4434A= (p.Leu1478=)
7g.41964637A=CA1702660371GLI3c.4436T= (p.Leu1479=)
c.4262T= (p.Leu1421=)
n.4413T=
c.4259T= (p.Leu1420=)
c.4433T= (p.Leu1478=)
7g.41964637A>CCA367315031GLI3c.4436T>G (p.Leu1479Ter)
c.4262T>G (p.Leu1421Ter)
n.4413T>G
c.4259T>G (p.Leu1420Ter)
c.4433T>G (p.Leu1478Ter)
7g.41964637A>GCA16044275GLI3c.4436T>C (p.Leu1479Ser)
c.4262T>C (p.Leu1421Ser)
n.4413T>C
c.4259T>C (p.Leu1420Ser)
c.4433T>C (p.Leu1478Ser)
 ClinVar dbSNP
7g.41964637A>TCA367315032GLI3c.4436T>A (p.Leu1479Ter)
c.4262T>A (p.Leu1421Ter)
n.4413T>A
c.4259T>A (p.Leu1420Ter)
c.4433T>A (p.Leu1478Ter)
7g.41964638A=CA1702660372GLI3c.4435T= (p.Leu1479=)
c.4261T= (p.Leu1421=)
n.4412T=
c.4258T= (p.Leu1420=)
c.4432T= (p.Leu1478=)
7g.41964638A>CCA367315033GLI3c.4435T>G (p.Leu1479Val)
c.4261T>G (p.Leu1421Val)
n.4412T>G
c.4258T>G (p.Leu1420Val)
c.4432T>G (p.Leu1478Val)
7g.41964638A>GCA454657383GLI3c.4435T>C (p.Leu1479=)
c.4261T>C (p.Leu1421=)
n.4412T>C
c.4258T>C (p.Leu1420=)
c.4432T>C (p.Leu1478=)
 dbSNP
7g.41964638A>TCA367315034GLI3c.4435T>A (p.Leu1479Ile)
c.4261T>A (p.Leu1421Ile)
n.4412T>A
c.4258T>A (p.Leu1420Ile)
c.4432T>A (p.Leu1478Ile)
7g.41964639C>ACA367315036GLI3c.4434G>T (p.Glu1478Asp)
c.4260G>T (p.Glu1420Asp)
n.4411G>T
c.4257G>T (p.Glu1419Asp)
c.4431G>T (p.Glu1477Asp)
7g.41964639C>GCA367315035GLI3c.4434G>C (p.Glu1478Asp)
c.4260G>C (p.Glu1420Asp)
n.4411G>C
c.4257G>C (p.Glu1419Asp)
c.4431G>C (p.Glu1477Asp)
7g.41964639C>TCA454657384GLI3c.4434G>A (p.Glu1478=)
c.4260G>A (p.Glu1420=)
n.4411G>A
c.4257G>A (p.Glu1419=)
c.4431G>A (p.Glu1477=)
 gnomAD v4
7g.41964640T>ACA367315037GLI3c.4433A>T (p.Glu1478Val)
c.4259A>T (p.Glu1420Val)
n.4410A>T
c.4256A>T (p.Glu1419Val)
c.4430A>T (p.Glu1477Val)
7g.41964640T>CCA367315038GLI3c.4433A>G (p.Glu1478Gly)
c.4259A>G (p.Glu1420Gly)
n.4410A>G
c.4256A>G (p.Glu1419Gly)
c.4430A>G (p.Glu1477Gly)
7g.41964640T>GCA367315039GLI3c.4433A>C (p.Glu1478Ala)
c.4259A>C (p.Glu1420Ala)
n.4410A>C
c.4256A>C (p.Glu1419Ala)
c.4430A>C (p.Glu1477Ala)
7g.41964641C>ACA367315040GLI3c.4432G>T (p.Glu1478Ter)
c.4258G>T (p.Glu1420Ter)
n.4409G>T
c.4255G>T (p.Glu1419Ter)
c.4429G>T (p.Glu1477Ter)
7g.41964641C=CA1702660373GLI3c.4432G= (p.Glu1478=)
c.4258G= (p.Glu1420=)
n.4409G=
c.4255G= (p.Glu1419=)
c.4429G= (p.Glu1477=)
7g.41964641C>GCA367315041GLI3c.4432G>C (p.Glu1478Gln)
c.4258G>C (p.Glu1420Gln)
n.4409G>C
c.4255G>C (p.Glu1419Gln)
c.4429G>C (p.Glu1477Gln)
 gnomAD v4
7g.41964641C>TCA367315042GLI3c.4432G>A (p.Glu1478Lys)
c.4258G>A (p.Glu1420Lys)
n.4409G>A
c.4255G>A (p.Glu1419Lys)
c.4429G>A (p.Glu1477Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41964642A>CCA454657387GLI3c.4431T>G (p.Ser1477=)
c.4257T>G (p.Ser1419=)
n.4408T>G
c.4254T>G (p.Ser1418=)
c.4428T>G (p.Ser1476=)
7g.41964642A>GCA454657385GLI3c.4431T>C (p.Ser1477=)
c.4257T>C (p.Ser1419=)
n.4408T>C
c.4254T>C (p.Ser1418=)
c.4428T>C (p.Ser1476=)
7g.41964642A>TCA454657386GLI3c.4431T>A (p.Ser1477=)
c.4257T>A (p.Ser1419=)
n.4408T>A
c.4254T>A (p.Ser1418=)
c.4428T>A (p.Ser1476=)
7g.41964642dupCA16603175GLI3c.4431dup (p.Glu1478Ter)
c.4257dup (p.Glu1420Ter)
n.4408dup
c.4254dup (p.Glu1419Ter)
c.4428dup (p.Glu1477Ter)
 ClinVar dbSNP
7g.41964644_41964645delCA2695207613GLI3c.4430_4431del (p.Ser1477Ter)
c.4256_4257del (p.Ser1419Ter)
n.4407_4408del
c.4253_4254del (p.Ser1418Ter)
c.4427_4428del (p.Ser1476Ter)
7g.41964643G>ACA367315043GLI3c.4430C>T (p.Ser1477Phe)
c.4256C>T (p.Ser1419Phe)
n.4407C>T
c.4253C>T (p.Ser1418Phe)
c.4427C>T (p.Ser1476Phe)
 gnomAD v4
7g.41964643G>CCA367315044GLI3c.4430C>G (p.Ser1477Cys)
c.4256C>G (p.Ser1419Cys)
n.4407C>G
c.4253C>G (p.Ser1418Cys)
c.4427C>G (p.Ser1476Cys)
7g.41964643G>TCA367315045GLI3c.4430C>A (p.Ser1477Tyr)
c.4256C>A (p.Ser1419Tyr)
n.4407C>A
c.4253C>A (p.Ser1418Tyr)
c.4427C>A (p.Ser1476Tyr)
7g.41964644A>CCA367315046GLI3c.4429T>G (p.Ser1477Ala)
c.4255T>G (p.Ser1419Ala)
n.4406T>G
c.4252T>G (p.Ser1418Ala)
c.4426T>G (p.Ser1476Ala)
7g.41964644A>GCA367315047GLI3c.4429T>C (p.Ser1477Pro)
c.4255T>C (p.Ser1419Pro)
n.4406T>C
c.4252T>C (p.Ser1418Pro)
c.4426T>C (p.Ser1476Pro)
7g.41964644A>TCA367315048GLI3c.4429T>A (p.Ser1477Thr)
c.4255T>A (p.Ser1419Thr)
n.4406T>A
c.4252T>A (p.Ser1418Thr)
c.4426T>A (p.Ser1476Thr)
7g.41964645G>ACA454657388GLI3c.4428C>T (p.Asn1476=)
c.4254C>T (p.Asn1418=)
n.4405C>T
c.4251C>T (p.Asn1417=)
c.4425C>T (p.Asn1475=)
 dbSNP
7g.41964645G>CCA367315049GLI3c.4428C>G (p.Asn1476Lys)
c.4254C>G (p.Asn1418Lys)
n.4405C>G
c.4251C>G (p.Asn1417Lys)
c.4425C>G (p.Asn1475Lys)
7g.41964645G=CA1702660374GLI3c.4428C= (p.Asn1476=)
c.4254C= (p.Asn1418=)
n.4405C=
c.4251C= (p.Asn1417=)
c.4425C= (p.Asn1475=)
7g.41964645G>TCA4230132GLI3c.4428C>A (p.Asn1476Lys)
c.4254C>A (p.Asn1418Lys)
n.4405C>A
c.4251C>A (p.Asn1417Lys)
c.4425C>A (p.Asn1475Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41964646T>ACA4230133GLI3c.4427A>T (p.Asn1476Ile)
c.4253A>T (p.Asn1418Ile)
n.4404A>T
c.4250A>T (p.Asn1417Ile)
c.4424A>T (p.Asn1475Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41964646T>CCA367315051GLI3c.4427A>G (p.Asn1476Ser)
c.4253A>G (p.Asn1418Ser)
n.4404A>G
c.4250A>G (p.Asn1417Ser)
c.4424A>G (p.Asn1475Ser)
 gnomAD v4
7g.41964646T>GCA367315050GLI3c.4427A>C (p.Asn1476Thr)
c.4253A>C (p.Asn1418Thr)
n.4404A>C
c.4250A>C (p.Asn1417Thr)
c.4424A>C (p.Asn1475Thr)
 dbSNP gnomAD v2 gnomAD v4
7g.41964646T=CA1702660375GLI3c.4427A= (p.Asn1476=)
c.4253A= (p.Asn1418=)
n.4404A=
c.4250A= (p.Asn1417=)
c.4424A= (p.Asn1475=)
7g.41964650dupCA645566062GLI3c.4427dup (p.Asn1476LysfsTer3)
c.4253dup (p.Asn1418LysfsTer3)
n.4404dup
c.4250dup (p.Asn1417LysfsTer3)
c.4424dup (p.Asn1475LysfsTer3)
 COSMIC
7g.41964650delCA2682509897GLI3c.4427del (p.Asn1476ThrfsTer12)
c.4253del (p.Asn1418ThrfsTer12)
n.4404del
c.4250del (p.Asn1417ThrfsTer12)
c.4424del (p.Asn1475ThrfsTer12)
 gnomAD v4
7g.41964646_41964647insACA454657389GLI3c.4426_4427insT (p.Asn1476IlefsTer3)
c.4252_4253insT (p.Asn1418IlefsTer3)
n.4403_4404insT
c.4249_4250insT (p.Asn1417IlefsTer3)
c.4423_4424insT (p.Asn1475IlefsTer3)
7g.41964647T>ACA367315053GLI3c.4426A>T (p.Asn1476Tyr)
c.4252A>T (p.Asn1418Tyr)
n.4403A>T
c.4249A>T (p.Asn1417Tyr)
c.4423A>T (p.Asn1475Tyr)
7g.41964647T>CCA367315052GLI3c.4426A>G (p.Asn1476Asp)
c.4252A>G (p.Asn1418Asp)
n.4403A>G
c.4249A>G (p.Asn1417Asp)
c.4423A>G (p.Asn1475Asp)
7g.41964647T>GCA367315054GLI3c.4426A>C (p.Asn1476His)
c.4252A>C (p.Asn1418His)
n.4403A>C
c.4249A>C (p.Asn1417His)
c.4423A>C (p.Asn1475His)
7g.41964647_41964648insACA2573332594GLI3c.4425_4426insT (p.Asn1476Ter)
c.4251_4252insT (p.Asn1418Ter)
n.4402_4403insT
c.4248_4249insT (p.Asn1417Ter)
c.4422_4423insT (p.Asn1475Ter)
7g.41964648T>ACA367315055GLI3c.4425A>T (p.Lys1475Asn)
c.4251A>T (p.Lys1417Asn)
n.4402A>T
c.4248A>T (p.Lys1416Asn)
c.4422A>T (p.Lys1474Asn)
7g.41964648T>CCA454657390GLI3c.4425A>G (p.Lys1475=)
c.4251A>G (p.Lys1417=)
n.4402A>G
c.4248A>G (p.Lys1416=)
c.4422A>G (p.Lys1474=)
7g.41964648T>GCA367315056GLI3c.4425A>C (p.Lys1475Asn)
c.4251A>C (p.Lys1417Asn)
n.4402A>C
c.4248A>C (p.Lys1416Asn)
c.4422A>C (p.Lys1474Asn)
7g.41964649T>ACA367315057GLI3c.4424A>T (p.Lys1475Ile)
c.4250A>T (p.Lys1417Ile)
n.4401A>T
c.4247A>T (p.Lys1416Ile)
c.4421A>T (p.Lys1474Ile)
7g.41964649T>CCA4230134GLI3c.4424A>G (p.Lys1475Arg)
c.4250A>G (p.Lys1417Arg)
n.4401A>G
c.4247A>G (p.Lys1416Arg)
c.4421A>G (p.Lys1474Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41964649T>GCA367315058GLI3c.4424A>C (p.Lys1475Thr)
c.4250A>C (p.Lys1417Thr)
n.4401A>C
c.4247A>C (p.Lys1416Thr)
c.4421A>C (p.Lys1474Thr)
7g.41964649T=CA1702660376GLI3c.4424A= (p.Lys1475=)
c.4250A= (p.Lys1417=)
n.4401A=
c.4247A= (p.Lys1416=)
c.4421A= (p.Lys1474=)
7g.41964650T>ACA367315059GLI3c.4423A>T (p.Lys1475Ter)
c.4249A>T (p.Lys1417Ter)
n.4400A>T
c.4246A>T (p.Lys1416Ter)
c.4420A>T (p.Lys1474Ter)
7g.41964650T>CCA367315060GLI3c.4423A>G (p.Lys1475Glu)
c.4249A>G (p.Lys1417Glu)
n.4400A>G
c.4246A>G (p.Lys1416Glu)
c.4420A>G (p.Lys1474Glu)
7g.41964650T>GCA367315061GLI3c.4423A>C (p.Lys1475Gln)
c.4249A>C (p.Lys1417Gln)
n.4400A>C
c.4246A>C (p.Lys1416Gln)
c.4420A>C (p.Lys1474Gln)
7g.41964651G>ACA454657392GLI3c.4422C>T (p.Ala1474=)
c.4248C>T (p.Ala1416=)
n.4399C>T
c.4245C>T (p.Ala1415=)
c.4419C>T (p.Ala1473=)
7g.41964651G>CCA454657393GLI3c.4422C>G (p.Ala1474=)
c.4248C>G (p.Ala1416=)
n.4399C>G
c.4245C>G (p.Ala1415=)
c.4419C>G (p.Ala1473=)
7g.41964651G>TCA454657391GLI3c.4422C>A (p.Ala1474=)
c.4248C>A (p.Ala1416=)
n.4399C>A
c.4245C>A (p.Ala1415=)
c.4419C>A (p.Ala1473=)
7g.41964652G>ACA367315062GLI3c.4421C>T (p.Ala1474Val)
c.4247C>T (p.Ala1416Val)
n.4398C>T
c.4244C>T (p.Ala1415Val)
c.4418C>T (p.Ala1473Val)
7g.41964652G>CCA367315063GLI3c.4421C>G (p.Ala1474Gly)
c.4247C>G (p.Ala1416Gly)
n.4398C>G
c.4244C>G (p.Ala1415Gly)
c.4418C>G (p.Ala1473Gly)
7g.41964652G>TCA367315064GLI3c.4421C>A (p.Ala1474Asp)
c.4247C>A (p.Ala1416Asp)
n.4398C>A
c.4244C>A (p.Ala1415Asp)
c.4418C>A (p.Ala1473Asp)
7g.41964653C>ACA367315065GLI3c.4420G>T (p.Ala1474Ser)
c.4246G>T (p.Ala1416Ser)
n.4397G>T
c.4243G>T (p.Ala1415Ser)
c.4417G>T (p.Ala1473Ser)
7g.41964653C=CA1702660377GLI3c.4420G= (p.Ala1474=)
c.4246G= (p.Ala1416=)
n.4397G=
c.4243G= (p.Ala1415=)
c.4417G= (p.Ala1473=)
7g.41964653C>GCA367315066GLI3c.4420G>C (p.Ala1474Pro)
c.4246G>C (p.Ala1416Pro)
n.4397G>C
c.4243G>C (p.Ala1415Pro)
c.4417G>C (p.Ala1473Pro)
7g.41964653C>TCA4230135GLI3c.4420G>A (p.Ala1474Thr)
c.4246G>A (p.Ala1416Thr)
n.4397G>A
c.4243G>A (p.Ala1415Thr)
c.4417G>A (p.Ala1473Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.41964654G>ACA454657394GLI3c.4419C>T (p.Ser1473=)
c.4245C>T (p.Ser1415=)
n.4396C>T
c.4242C>T (p.Ser1414=)
c.4416C>T (p.Ser1472=)
 gnomAD v4
7g.41964654G>CCA367315067GLI3c.4419C>G (p.Ser1473Arg)
c.4245C>G (p.Ser1415Arg)
n.4396C>G
c.4242C>G (p.Ser1414Arg)
c.4416C>G (p.Ser1472Arg)
 dbSNP gnomAD v3 gnomAD v4
7g.41964654G=CA1702660378GLI3c.4419C= (p.Ser1473=)
c.4245C= (p.Ser1415=)
n.4396C=
c.4242C= (p.Ser1414=)
c.4416C= (p.Ser1472=)
7g.41964654G>TCA367315068GLI3c.4419C>A (p.Ser1473Arg)
c.4245C>A (p.Ser1415Arg)
n.4396C>A
c.4242C>A (p.Ser1414Arg)
c.4416C>A (p.Ser1472Arg)
 dbSNP gnomAD v4
7g.41964655C>ACA367315069GLI3c.4418G>T (p.Ser1473Ile)
c.4244G>T (p.Ser1415Ile)
n.4395G>T
c.4241G>T (p.Ser1414Ile)
c.4415G>T (p.Ser1472Ile)
7g.41964655C=CA1702660379GLI3c.4418G= (p.Ser1473=)
c.4244G= (p.Ser1415=)
n.4395G=
c.4241G= (p.Ser1414=)
c.4415G= (p.Ser1472=)
7g.41964655C>GCA367315070GLI3c.4418G>C (p.Ser1473Thr)
c.4244G>C (p.Ser1415Thr)
n.4395G>C
c.4241G>C (p.Ser1414Thr)
c.4415G>C (p.Ser1472Thr)
 dbSNP
7g.41964655C>TCA367315071GLI3c.4418G>A (p.Ser1473Asn)
c.4244G>A (p.Ser1415Asn)
n.4395G>A
c.4241G>A (p.Ser1414Asn)
c.4415G>A (p.Ser1472Asn)
7g.41964656T>ACA367315072GLI3c.4417A>T (p.Ser1473Cys)
c.4243A>T (p.Ser1415Cys)
n.4394A>T
c.4240A>T (p.Ser1414Cys)
c.4414A>T (p.Ser1472Cys)
7g.41964656T>CCA367315073GLI3c.4417A>G (p.Ser1473Gly)
c.4243A>G (p.Ser1415Gly)
n.4394A>G
c.4240A>G (p.Ser1414Gly)
c.4414A>G (p.Ser1472Gly)
7g.41964656T>GCA367315074GLI3c.4417A>C (p.Ser1473Arg)
c.4243A>C (p.Ser1415Arg)
n.4394A>C
c.4240A>C (p.Ser1414Arg)
c.4414A>C (p.Ser1472Arg)
7g.41964657G>ACA454657395GLI3c.4416C>T (p.Thr1472=)
c.4242C>T (p.Thr1414=)
n.4393C>T
c.4239C>T (p.Thr1413=)
c.4413C>T (p.Thr1471=)
 COSMIC
7g.41964657G>CCA454657397GLI3c.4416C>G (p.Thr1472=)
c.4242C>G (p.Thr1414=)
n.4393C>G
c.4239C>G (p.Thr1413=)
c.4413C>G (p.Thr1471=)
7g.41964657G>TCA454657396GLI3c.4416C>A (p.Thr1472=)
c.4242C>A (p.Thr1414=)
n.4393C>A
c.4239C>A (p.Thr1413=)
c.4413C>A (p.Thr1471=)
7g.41964658delCA2578873898GLI3c.4416del (p.Ser1473AlafsTer15)
c.4242del (p.Ser1415AlafsTer15)
n.4393del
c.4239del (p.Ser1414AlafsTer15)
c.4413del (p.Ser1472AlafsTer15)
7g.41964658G>ACA367315075GLI3c.4415C>T (p.Thr1472Ile)
c.4241C>T (p.Thr1414Ile)
n.4392C>T
c.4238C>T (p.Thr1413Ile)
c.4412C>T (p.Thr1471Ile)
7g.41964658G>CCA367315076GLI3c.4415C>G (p.Thr1472Ser)
c.4241C>G (p.Thr1414Ser)
n.4392C>G
c.4238C>G (p.Thr1413Ser)
c.4412C>G (p.Thr1471Ser)
7g.41964658G>TCA367315077GLI3c.4415C>A (p.Thr1472Asn)
c.4241C>A (p.Thr1414Asn)
n.4392C>A
c.4238C>A (p.Thr1413Asn)
c.4412C>A (p.Thr1471Asn)
7g.41964659T>ACA367315078GLI3c.4414A>T (p.Thr1472Ser)
c.4240A>T (p.Thr1414Ser)
n.4391A>T
c.4237A>T (p.Thr1413Ser)
c.4411A>T (p.Thr1471Ser)
7g.41964659T>CCA367315079GLI3c.4414A>G (p.Thr1472Ala)
c.4240A>G (p.Thr1414Ala)
n.4391A>G
c.4237A>G (p.Thr1413Ala)
c.4411A>G (p.Thr1471Ala)
7g.41964659T>GCA367315080GLI3c.4414A>C (p.Thr1472Pro)
c.4240A>C (p.Thr1414Pro)
n.4391A>C
c.4237A>C (p.Thr1413Pro)
c.4411A>C (p.Thr1471Pro)
7g.41964660C>ACA4230136GLI3c.4413G>T (p.Gly1471=)
c.4239G>T (p.Gly1413=)
n.4390G>T
c.4236G>T (p.Gly1412=)
c.4410G>T (p.Gly1470=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41964660C=CA1702660380GLI3c.4413G= (p.Gly1471=)
c.4239G= (p.Gly1413=)
n.4390G=
c.4236G= (p.Gly1412=)
c.4410G= (p.Gly1470=)
7g.41964660C>GCA454657398GLI3c.4413G>C (p.Gly1471=)
c.4239G>C (p.Gly1413=)
n.4390G>C
c.4236G>C (p.Gly1412=)
c.4410G>C (p.Gly1470=)
7g.41964660C>TCA454657399GLI3c.4413G>A (p.Gly1471=)
c.4239G>A (p.Gly1413=)
n.4390G>A
c.4236G>A (p.Gly1412=)
c.4410G>A (p.Gly1470=)
 dbSNP COSMIC
7g.41964663delCA2573142117GLI3c.4413del (p.Thr1472ProfsTer16)
c.4239del (p.Thr1414ProfsTer16)
n.4390del
c.4236del (p.Thr1413ProfsTer16)
c.4410del (p.Thr1471ProfsTer16)
 ClinVar dbSNP
7g.41964661C>ACA367315083GLI3c.4412G>T (p.Gly1471Val)
c.4238G>T (p.Gly1413Val)
n.4389G>T
c.4235G>T (p.Gly1412Val)
c.4409G>T (p.Gly1470Val)
7g.41964661C>GCA367315081GLI3c.4412G>C (p.Gly1471Ala)
c.4238G>C (p.Gly1413Ala)
n.4389G>C
c.4235G>C (p.Gly1412Ala)
c.4409G>C (p.Gly1470Ala)
7g.41964661C>TCA367315082GLI3c.4412G>A (p.Gly1471Glu)
c.4238G>A (p.Gly1413Glu)
n.4389G>A
c.4235G>A (p.Gly1412Glu)
c.4409G>A (p.Gly1470Glu)
 gnomAD v4
7g.41964662C>ACA367315084GLI3c.4411G>T (p.Gly1471Trp)
c.4237G>T (p.Gly1413Trp)
n.4388G>T
c.4234G>T (p.Gly1412Trp)
c.4408G>T (p.Gly1470Trp)
7g.41964662C>GCA367315085GLI3c.4411G>C (p.Gly1471Arg)
c.4237G>C (p.Gly1413Arg)
n.4388G>C
c.4234G>C (p.Gly1412Arg)
c.4408G>C (p.Gly1470Arg)
7g.41964662C>TCA367315086GLI3c.4411G>A (p.Gly1471Arg)
c.4237G>A (p.Gly1413Arg)
n.4388G>A
c.4234G>A (p.Gly1412Arg)
c.4408G>A (p.Gly1470Arg)
 ClinVar gnomAD v4
7g.41964663C>ACA367315087GLI3c.4410G>T (p.Gln1470His)
c.4236G>T (p.Gln1412His)
n.4387G>T
c.4233G>T (p.Gln1411His)
c.4407G>T (p.Gln1469His)
7g.41964663C>GCA367315088GLI3c.4410G>C (p.Gln1470His)
c.4236G>C (p.Gln1412His)
n.4387G>C
c.4233G>C (p.Gln1411His)
c.4407G>C (p.Gln1469His)
7g.41964663C>TCA454657400GLI3c.4410G>A (p.Gln1470=)
c.4236G>A (p.Gln1412=)
n.4387G>A
c.4233G>A (p.Gln1411=)
c.4407G>A (p.Gln1469=)
 gnomAD v4
7g.41964664T>ACA367315089GLI3c.4409A>T (p.Gln1470Leu)
c.4235A>T (p.Gln1412Leu)
n.4386A>T
c.4232A>T (p.Gln1411Leu)
c.4406A>T (p.Gln1469Leu)
7g.41964664T>CCA156902094GLI3c.4409A>G (p.Gln1470Arg)
c.4235A>G (p.Gln1412Arg)
n.4386A>G
c.4232A>G (p.Gln1411Arg)
c.4406A>G (p.Gln1469Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.41964664T>GCA367315090GLI3c.4409A>C (p.Gln1470Pro)
c.4235A>C (p.Gln1412Pro)
n.4386A>C
c.4232A>C (p.Gln1411Pro)
c.4406A>C (p.Gln1469Pro)
7g.41964664T=CA1702660381GLI3c.4409A= (p.Gln1470=)
c.4235A= (p.Gln1412=)
n.4386A=
c.4232A= (p.Gln1411=)
c.4406A= (p.Gln1469=)
7g.41964665G>ACA367315091GLI3c.4408C>T (p.Gln1470Ter)
c.4234C>T (p.Gln1412Ter)
n.4385C>T
c.4231C>T (p.Gln1411Ter)
c.4405C>T (p.Gln1469Ter)
7g.41964665G>CCA367315092GLI3c.4408C>G (p.Gln1470Glu)
c.4234C>G (p.Gln1412Glu)
n.4385C>G
c.4231C>G (p.Gln1411Glu)
c.4405C>G (p.Gln1469Glu)
7g.41964665G>TCA367315093GLI3c.4408C>A (p.Gln1470Lys)
c.4234C>A (p.Gln1412Lys)
n.4385C>A
c.4231C>A (p.Gln1411Lys)
c.4405C>A (p.Gln1469Lys)
7g.41964666T>ACA454657401GLI3c.4407A>T (p.Leu1469=)
c.4233A>T (p.Leu1411=)
n.4384A>T
c.4230A>T (p.Leu1410=)
c.4404A>T (p.Leu1468=)
7g.41964666T>CCA454657402GLI3c.4407A>G (p.Leu1469=)
c.4233A>G (p.Leu1411=)
n.4384A>G
c.4230A>G (p.Leu1410=)
c.4404A>G (p.Leu1468=)
 gnomAD v4
7g.41964666T>GCA454657403GLI3c.4407A>C (p.Leu1469=)
c.4233A>C (p.Leu1411=)
n.4384A>C
c.4230A>C (p.Leu1410=)
c.4404A>C (p.Leu1468=)
7g.41964667A>CCA367315096GLI3c.4406T>G (p.Leu1469Arg)
c.4232T>G (p.Leu1411Arg)
n.4383T>G
c.4229T>G (p.Leu1410Arg)
c.4403T>G (p.Leu1468Arg)
7g.41964667A>GCA367315094GLI3c.4406T>C (p.Leu1469Pro)
c.4232T>C (p.Leu1411Pro)
n.4383T>C
c.4229T>C (p.Leu1410Pro)
c.4403T>C (p.Leu1468Pro)
7g.41964667A>TCA367315095GLI3c.4406T>A (p.Leu1469Gln)
c.4232T>A (p.Leu1411Gln)
n.4383T>A
c.4229T>A (p.Leu1410Gln)
c.4403T>A (p.Leu1468Gln)
7g.41964668G>ACA454657404GLI3c.4405C>T (p.Leu1469=)
c.4231C>T (p.Leu1411=)
n.4382C>T
c.4228C>T (p.Leu1410=)
c.4402C>T (p.Leu1468=)
7g.41964668G>CCA367315097GLI3c.4405C>G (p.Leu1469Val)
c.4231C>G (p.Leu1411Val)
n.4382C>G
c.4228C>G (p.Leu1410Val)
c.4402C>G (p.Leu1468Val)
7g.41964668G>TCA367315098GLI3c.4405C>A (p.Leu1469Ile)
c.4231C>A (p.Leu1411Ile)
n.4382C>A
c.4228C>A (p.Leu1410Ile)
c.4402C>A (p.Leu1468Ile)
7g.41964669C>ACA454657405GLI3c.4404G>T (p.Leu1468=)
c.4230G>T (p.Leu1410=)
n.4381G>T
c.4227G>T (p.Leu1409=)
c.4401G>T (p.Leu1467=)
7g.41964669C>GCA454657406GLI3c.4404G>C (p.Leu1468=)
c.4230G>C (p.Leu1410=)
n.4381G>C
c.4227G>C (p.Leu1409=)
c.4401G>C (p.Leu1467=)
7g.41964669C>TCA454657407GLI3c.4404G>A (p.Leu1468=)
c.4230G>A (p.Leu1410=)
n.4381G>A
c.4227G>A (p.Leu1409=)
c.4401G>A (p.Leu1467=)
7g.41964670A>CCA367315099GLI3c.4403T>G (p.Leu1468Arg)
c.4229T>G (p.Leu1410Arg)
n.4380T>G
c.4226T>G (p.Leu1409Arg)
c.4400T>G (p.Leu1467Arg)
 gnomAD v4
7g.41964670A>GCA367315100GLI3c.4403T>C (p.Leu1468Pro)
c.4229T>C (p.Leu1410Pro)
n.4380T>C
c.4226T>C (p.Leu1409Pro)
c.4400T>C (p.Leu1467Pro)
7g.41964670A>TCA367315101GLI3c.4403T>A (p.Leu1468Gln)
c.4229T>A (p.Leu1410Gln)
n.4380T>A
c.4226T>A (p.Leu1409Gln)
c.4400T>A (p.Leu1467Gln)
7g.41964670_41964671insCCA2695207614GLI3c.4402_4403insG (p.Leu1468ArgfsTer11)
c.4228_4229insG (p.Leu1410ArgfsTer11)
n.4379_4380insG
c.4225_4226insG (p.Leu1409ArgfsTer11)
c.4399_4400insG (p.Leu1467ArgfsTer11)
7g.41964671G>ACA454657408GLI3c.4402C>T (p.Leu1468=)
c.4228C>T (p.Leu1410=)
n.4379C>T
c.4225C>T (p.Leu1409=)
c.4399C>T (p.Leu1467=)
7g.41964671G>CCA367315102GLI3c.4402C>G (p.Leu1468Val)
c.4228C>G (p.Leu1410Val)
n.4379C>G
c.4225C>G (p.Leu1409Val)
c.4399C>G (p.Leu1467Val)
7g.41964671G>TCA367315103GLI3c.4402C>A (p.Leu1468Met)
c.4228C>A (p.Leu1410Met)
n.4379C>A
c.4225C>A (p.Leu1409Met)
c.4399C>A (p.Leu1467Met)
7g.41964672G>ACA454657409GLI3c.4401C>T (p.Cys1467=)
c.4227C>T (p.Cys1409=)
n.4378C>T
c.4224C>T (p.Cys1408=)
c.4398C>T (p.Cys1466=)
7g.41964672G>CCA367315104GLI3c.4401C>G (p.Cys1467Trp)
c.4227C>G (p.Cys1409Trp)
n.4378C>G
c.4224C>G (p.Cys1408Trp)
c.4398C>G (p.Cys1466Trp)
7g.41964672G>TCA367315105GLI3c.4401C>A (p.Cys1467Ter)
c.4227C>A (p.Cys1409Ter)
n.4378C>A
c.4224C>A (p.Cys1408Ter)
c.4398C>A (p.Cys1466Ter)
7g.41964673C>ACA4230137GLI3c.4400G>T (p.Cys1467Phe)
c.4226G>T (p.Cys1409Phe)
n.4377G>T
c.4223G>T (p.Cys1408Phe)
c.4397G>T (p.Cys1466Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41964673C=CA1702660382GLI3c.4400G= (p.Cys1467=)
c.4226G= (p.Cys1409=)
n.4377G=
c.4223G= (p.Cys1408=)
c.4397G= (p.Cys1466=)
7g.41964673C>GCA367315106GLI3c.4400G>C (p.Cys1467Ser)
c.4226G>C (p.Cys1409Ser)
n.4377G>C
c.4223G>C (p.Cys1408Ser)
c.4397G>C (p.Cys1466Ser)
7g.41964673C>TCA367315107GLI3c.4400G>A (p.Cys1467Tyr)
c.4226G>A (p.Cys1409Tyr)
n.4377G>A
c.4223G>A (p.Cys1408Tyr)
c.4397G>A (p.Cys1466Tyr)
 dbSNP
7g.41964674A>CCA367315109GLI3c.4399T>G (p.Cys1467Gly)
c.4225T>G (p.Cys1409Gly)
n.4376T>G
c.4222T>G (p.Cys1408Gly)
c.4396T>G (p.Cys1466Gly)
7g.41964674A>GCA367315110GLI3c.4399T>C (p.Cys1467Arg)
c.4225T>C (p.Cys1409Arg)
n.4376T>C
c.4222T>C (p.Cys1408Arg)
c.4396T>C (p.Cys1466Arg)
7g.41964674A>TCA367315108GLI3c.4399T>A (p.Cys1467Ser)
c.4225T>A (p.Cys1409Ser)
n.4376T>A
c.4222T>A (p.Cys1408Ser)
c.4396T>A (p.Cys1466Ser)
7g.41964675G>ACA454657410GLI3c.4398C>T (p.Ser1466=)
c.4224C>T (p.Ser1408=)
n.4375C>T
c.4221C>T (p.Ser1407=)
c.4395C>T (p.Ser1465=)
7g.41964675G>CCA367315111GLI3c.4398C>G (p.Ser1466Arg)
c.4224C>G (p.Ser1408Arg)
n.4375C>G
c.4221C>G (p.Ser1407Arg)
c.4395C>G (p.Ser1465Arg)
7g.41964675G>TCA367315112GLI3c.4398C>A (p.Ser1466Arg)
c.4224C>A (p.Ser1408Arg)
n.4375C>A
c.4221C>A (p.Ser1407Arg)
c.4395C>A (p.Ser1465Arg)
7g.41964676C>ACA367315113GLI3c.4397G>T (p.Ser1466Ile)
c.4223G>T (p.Ser1408Ile)
n.4374G>T
c.4220G>T (p.Ser1407Ile)
c.4394G>T (p.Ser1465Ile)
7g.41964676C=CA1702660383GLI3c.4397G= (p.Ser1466=)
c.4223G= (p.Ser1408=)
n.4374G=
c.4220G= (p.Ser1407=)
c.4394G= (p.Ser1465=)
7g.41964676C>GCA367315114GLI3c.4397G>C (p.Ser1466Thr)
c.4223G>C (p.Ser1408Thr)
n.4374G>C
c.4220G>C (p.Ser1407Thr)
c.4394G>C (p.Ser1465Thr)
 dbSNP gnomAD v2
7g.41964676C>TCA4230138GLI3c.4397G>A (p.Ser1466Asn)
c.4223G>A (p.Ser1408Asn)
n.4374G>A
c.4220G>A (p.Ser1407Asn)
c.4394G>A (p.Ser1465Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41964677T>ACA367315115GLI3c.4396A>T (p.Ser1466Cys)
c.4222A>T (p.Ser1408Cys)
n.4373A>T
c.4219A>T (p.Ser1407Cys)
c.4393A>T (p.Ser1465Cys)
7g.41964677T>CCA367315116GLI3c.4396A>G (p.Ser1466Gly)
c.4222A>G (p.Ser1408Gly)
n.4373A>G
c.4219A>G (p.Ser1407Gly)
c.4393A>G (p.Ser1465Gly)
7g.41964677T>GCA367315117GLI3c.4396A>C (p.Ser1466Arg)
c.4222A>C (p.Ser1408Arg)
n.4373A>C
c.4219A>C (p.Ser1407Arg)
c.4393A>C (p.Ser1465Arg)
7g.41964677_41964678delinsTGCA1702660384GLI3c.4395_4396delinsCA (p.Ala1465=)
c.4221_4222delinsCA (p.Ala1407=)
n.4372_4373delinsCA
c.4218_4219delinsCA (p.Ala1406=)
c.4392_4393delinsCA (p.Ala1464=)
7g.41964678G>ACA454657411GLI3c.4395C>T (p.Ala1465=)
c.4221C>T (p.Ala1407=)
n.4372C>T
c.4218C>T (p.Ala1406=)
c.4392C>T (p.Ala1464=)
7g.41964678G>CCA454657412GLI3c.4395C>G (p.Ala1465=)
c.4221C>G (p.Ala1407=)
n.4372C>G
c.4218C>G (p.Ala1406=)
c.4392C>G (p.Ala1464=)
7g.41964678G>TCA454657413GLI3c.4395C>A (p.Ala1465=)
c.4221C>A (p.Ala1407=)
n.4372C>A
c.4218C>A (p.Ala1406=)
c.4392C>A (p.Ala1464=)
7g.41964679delCA658657668GLI3c.4395del (p.Ser1466AlafsTer22)
c.4221del (p.Ser1408AlafsTer22)
n.4372del
c.4218del (p.Ser1407AlafsTer22)
c.4392del (p.Ser1465AlafsTer22)
 ClinVar dbSNP
7g.41964679G>ACA367315118GLI3c.4394C>T (p.Ala1465Val)
c.4220C>T (p.Ala1407Val)
n.4371C>T
c.4217C>T (p.Ala1406Val)
c.4391C>T (p.Ala1464Val)
7g.41964679G>CCA367315119GLI3c.4394C>G (p.Ala1465Gly)
c.4220C>G (p.Ala1407Gly)
n.4371C>G
c.4217C>G (p.Ala1406Gly)
c.4391C>G (p.Ala1464Gly)
7g.41964679G>TCA367315120GLI3c.4394C>A (p.Ala1465Asp)
c.4220C>A (p.Ala1407Asp)
n.4371C>A
c.4217C>A (p.Ala1406Asp)
c.4391C>A (p.Ala1464Asp)
7g.41964680C>ACA367315121GLI3c.4393G>T (p.Ala1465Ser)
c.4219G>T (p.Ala1407Ser)
n.4370G>T
c.4216G>T (p.Ala1406Ser)
c.4390G>T (p.Ala1464Ser)
 gnomAD v4
7g.41964680C=CA1702660385GLI3c.4393G= (p.Ala1465=)
c.4219G= (p.Ala1407=)
n.4370G=
c.4216G= (p.Ala1406=)
c.4390G= (p.Ala1464=)
7g.41964680C>GCA367315122GLI3c.4393G>C (p.Ala1465Pro)
c.4219G>C (p.Ala1407Pro)
n.4370G>C
c.4216G>C (p.Ala1406Pro)
c.4390G>C (p.Ala1464Pro)
7g.41964680C>TCA367315123GLI3c.4393G>A (p.Ala1465Thr)
c.4219G>A (p.Ala1407Thr)
n.4370G>A
c.4216G>A (p.Ala1406Thr)
c.4390G>A (p.Ala1464Thr)
 dbSNP gnomAD v3 gnomAD v4
7g.41964681G>ACA4230139GLI3c.4392C>T (p.Asp1464=)
c.4218C>T (p.Asp1406=)
n.4369C>T
c.4215C>T (p.Asp1405=)
c.4389C>T (p.Asp1463=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.41964681G>CCA367315124GLI3c.4392C>G (p.Asp1464Glu)
c.4218C>G (p.Asp1406Glu)
n.4369C>G
c.4215C>G (p.Asp1405Glu)
c.4389C>G (p.Asp1463Glu)
7g.41964681G=CA1702660386GLI3c.4392C= (p.Asp1464=)
c.4218C= (p.Asp1406=)
n.4369C=
c.4215C= (p.Asp1405=)
c.4389C= (p.Asp1463=)
7g.41964681G>TCA367315125GLI3c.4392C>A (p.Asp1464Glu)
c.4218C>A (p.Asp1406Glu)
n.4369C>A
c.4215C>A (p.Asp1405Glu)
c.4389C>A (p.Asp1463Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41964682T>ACA367315128GLI3c.4391A>T (p.Asp1464Val)
c.4217A>T (p.Asp1406Val)
n.4368A>T
c.4214A>T (p.Asp1405Val)
c.4388A>T (p.Asp1463Val)
7g.41964682T>CCA367315126GLI3c.4391A>G (p.Asp1464Gly)
c.4217A>G (p.Asp1406Gly)
n.4368A>G
c.4214A>G (p.Asp1405Gly)
c.4388A>G (p.Asp1463Gly)
 gnomAD v4
7g.41964682T>GCA367315127GLI3c.4391A>C (p.Asp1464Ala)
c.4217A>C (p.Asp1406Ala)
n.4368A>C
c.4214A>C (p.Asp1405Ala)
c.4388A>C (p.Asp1463Ala)
7g.41964683C>ACA367315129GLI3c.4390G>T (p.Asp1464Tyr)
c.4216G>T (p.Asp1406Tyr)
n.4367G>T
c.4213G>T (p.Asp1405Tyr)
c.4387G>T (p.Asp1463Tyr)
7g.41964683C>GCA367315130GLI3c.4390G>C (p.Asp1464His)
c.4216G>C (p.Asp1406His)
n.4367G>C
c.4213G>C (p.Asp1405His)
c.4387G>C (p.Asp1463His)
 gnomAD v4
7g.41964683C>TCA367315131GLI3c.4390G>A (p.Asp1464Asn)
c.4216G>A (p.Asp1406Asn)
n.4367G>A
c.4213G>A (p.Asp1405Asn)
c.4387G>A (p.Asp1463Asn)
7g.41964684T>ACA454657416GLI3c.4389A>T (p.Ser1463=)
c.4215A>T (p.Ser1405=)
n.4366A>T
c.4212A>T (p.Ser1404=)
c.4386A>T (p.Ser1462=)
7g.41964684T>CCA454657417GLI3c.4389A>G (p.Ser1463=)
c.4215A>G (p.Ser1405=)
n.4366A>G
c.4212A>G (p.Ser1404=)
c.4386A>G (p.Ser1462=)
7g.41964684T>GCA454657415GLI3c.4389A>C (p.Ser1463=)
c.4215A>C (p.Ser1405=)
n.4366A>C
c.4212A>C (p.Ser1404=)
c.4386A>C (p.Ser1462=)
7g.41964685G>ACA367315132GLI3c.4388C>T (p.Ser1463Leu)
c.4214C>T (p.Ser1405Leu)
n.4365C>T
c.4211C>T (p.Ser1404Leu)
c.4385C>T (p.Ser1462Leu)
7g.41964685G>CCA367315133GLI3c.4388C>G (p.Ser1463Ter)
c.4214C>G (p.Ser1405Ter)
n.4365C>G
c.4211C>G (p.Ser1404Ter)
c.4385C>G (p.Ser1462Ter)
7g.41964685G>TCA367315134GLI3c.4388C>A (p.Ser1463Ter)
c.4214C>A (p.Ser1405Ter)
n.4365C>A
c.4211C>A (p.Ser1404Ter)
c.4385C>A (p.Ser1462Ter)
7g.41964686A>CCA367315135GLI3c.4387T>G (p.Ser1463Ala)
c.4213T>G (p.Ser1405Ala)
n.4364T>G
c.4210T>G (p.Ser1404Ala)
c.4384T>G (p.Ser1462Ala)
7g.41964686A>GCA367315136GLI3c.4387T>C (p.Ser1463Pro)
c.4213T>C (p.Ser1405Pro)
n.4364T>C
c.4210T>C (p.Ser1404Pro)
c.4384T>C (p.Ser1462Pro)
7g.41964686A>TCA367315137GLI3c.4387T>A (p.Ser1463Thr)
c.4213T>A (p.Ser1405Thr)
n.4364T>A
c.4210T>A (p.Ser1404Thr)
c.4384T>A (p.Ser1462Thr)
7g.41964686_41964690delCA2499218881GLI3c.4383_4387del (p.Ile1462ArgfsTer15)
c.4209_4213del (p.Ile1404ArgfsTer15)
n.4360_4364del
c.4206_4210del (p.Ile1403ArgfsTer15)
c.4380_4384del (p.Ile1461ArgfsTer15)
 ClinVar dbSNP
7g.41964687A>CCA367315138GLI3c.4386T>G (p.Ile1462Met)
c.4212T>G (p.Ile1404Met)
n.4363T>G
c.4209T>G (p.Ile1403Met)
c.4383T>G (p.Ile1461Met)
7g.41964687A>GCA454657419GLI3c.4386T>C (p.Ile1462=)
c.4212T>C (p.Ile1404=)
n.4363T>C
c.4209T>C (p.Ile1403=)
c.4383T>C (p.Ile1461=)
 COSMIC
7g.41964687A>TCA454657418GLI3c.4386T>A (p.Ile1462=)
c.4212T>A (p.Ile1404=)
n.4363T>A
c.4209T>A (p.Ile1403=)
c.4383T>A (p.Ile1461=)
7g.41964688A=CA1702660387GLI3c.4385T= (p.Ile1462=)
c.4211T= (p.Ile1404=)
n.4362T=
c.4208T= (p.Ile1403=)
c.4382T= (p.Ile1461=)
7g.41964688A>CCA367315140GLI3c.4385T>G (p.Ile1462Ser)
c.4211T>G (p.Ile1404Ser)
n.4362T>G
c.4208T>G (p.Ile1403Ser)
c.4382T>G (p.Ile1461Ser)
7g.41964688A>GCA4230140GLI3c.4385T>C (p.Ile1462Thr)
c.4211T>C (p.Ile1404Thr)
n.4362T>C
c.4208T>C (p.Ile1403Thr)
c.4382T>C (p.Ile1461Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41964688A>TCA367315139GLI3c.4385T>A (p.Ile1462Asn)
c.4211T>A (p.Ile1404Asn)
n.4362T>A
c.4208T>A (p.Ile1403Asn)
c.4382T>A (p.Ile1461Asn)
7g.41964689T>ACA367315141GLI3c.4384A>T (p.Ile1462Phe)
c.4210A>T (p.Ile1404Phe)
n.4361A>T
c.4207A>T (p.Ile1403Phe)
c.4381A>T (p.Ile1461Phe)
7g.41964689T>CCA156902142GLI3c.4384A>G (p.Ile1462Val)
c.4210A>G (p.Ile1404Val)
n.4361A>G
c.4207A>G (p.Ile1403Val)
c.4381A>G (p.Ile1461Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41964689T>GCA367315142GLI3c.4384A>C (p.Ile1462Leu)
c.4210A>C (p.Ile1404Leu)
n.4361A>C
c.4207A>C (p.Ile1403Leu)
c.4381A>C (p.Ile1461Leu)
 gnomAD v4
7g.41964689T=CA1702660388GLI3c.4384A= (p.Ile1462=)
c.4210A= (p.Ile1404=)
n.4361A=
c.4207A= (p.Ile1403=)
c.4381A= (p.Ile1461=)
7g.41964690A>CCA454657420GLI3c.4383T>G (p.Ser1461=)
c.4209T>G (p.Ser1403=)
n.4360T>G
c.4206T>G (p.Ser1402=)
c.4380T>G (p.Ser1460=)
7g.41964690A>GCA454657422GLI3c.4383T>C (p.Ser1461=)
c.4209T>C (p.Ser1403=)
n.4360T>C
c.4206T>C (p.Ser1402=)
c.4380T>C (p.Ser1460=)
7g.41964690A>TCA454657421GLI3c.4383T>A (p.Ser1461=)
c.4209T>A (p.Ser1403=)
n.4360T>A
c.4206T>A (p.Ser1402=)
c.4380T>A (p.Ser1460=)
7g.41964691G>ACA4230141GLI3c.4382C>T (p.Ser1461Phe)
c.4208C>T (p.Ser1403Phe)
n.4359C>T
c.4205C>T (p.Ser1402Phe)
c.4379C>T (p.Ser1460Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41964691G>CCA367315143GLI3c.4382C>G (p.Ser1461Cys)
c.4208C>G (p.Ser1403Cys)
n.4359C>G
c.4205C>G (p.Ser1402Cys)
c.4379C>G (p.Ser1460Cys)
 gnomAD v4
7g.41964691G=CA1702660389GLI3c.4382C= (p.Ser1461=)
c.4208C= (p.Ser1403=)
n.4359C=
c.4205C= (p.Ser1402=)
c.4379C= (p.Ser1460=)
7g.41964691G>TCA367315144GLI3c.4382C>A (p.Ser1461Tyr)
c.4208C>A (p.Ser1403Tyr)
n.4359C>A
c.4205C>A (p.Ser1402Tyr)
c.4379C>A (p.Ser1460Tyr)
 COSMIC
7g.41964692A>CCA367315145GLI3c.4381T>G (p.Ser1461Ala)
c.4207T>G (p.Ser1403Ala)
n.4358T>G
c.4204T>G (p.Ser1402Ala)
c.4378T>G (p.Ser1460Ala)
7g.41964692A>GCA367315146GLI3c.4381T>C (p.Ser1461Pro)
c.4207T>C (p.Ser1403Pro)
n.4358T>C
c.4204T>C (p.Ser1402Pro)
c.4378T>C (p.Ser1460Pro)
7g.41964692A>TCA367315147GLI3c.4381T>A (p.Ser1461Thr)
c.4207T>A (p.Ser1403Thr)
n.4358T>A
c.4204T>A (p.Ser1402Thr)
c.4378T>A (p.Ser1460Thr)
7g.41964693G>ACA4230142GLI3c.4380C>T (p.Phe1460=)
c.4206C>T (p.Phe1402=)
n.4357C>T
c.4203C>T (p.Phe1401=)
c.4377C>T (p.Phe1459=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.41964693G>CCA367315148GLI3c.4380C>G (p.Phe1460Leu)
c.4206C>G (p.Phe1402Leu)
n.4357C>G
c.4203C>G (p.Phe1401Leu)
c.4377C>G (p.Phe1459Leu)
7g.41964693G=CA1702660390GLI3c.4380C= (p.Phe1460=)
c.4206C= (p.Phe1402=)
n.4357C=
c.4203C= (p.Phe1401=)
c.4377C= (p.Phe1459=)
7g.41964693G>TCA367315149GLI3c.4380C>A (p.Phe1460Leu)
c.4206C>A (p.Phe1402Leu)
n.4357C>A
c.4203C>A (p.Phe1401Leu)
c.4377C>A (p.Phe1459Leu)
7g.41964694A>CCA367315152GLI3c.4379T>G (p.Phe1460Cys)
c.4205T>G (p.Phe1402Cys)
n.4356T>G
c.4202T>G (p.Phe1401Cys)
c.4376T>G (p.Phe1459Cys)
7g.41964694A>GCA367315151GLI3c.4379T>C (p.Phe1460Ser)
c.4205T>C (p.Phe1402Ser)
n.4356T>C
c.4202T>C (p.Phe1401Ser)
c.4376T>C (p.Phe1459Ser)
7g.41964694A>TCA367315150GLI3c.4379T>A (p.Phe1460Tyr)
c.4205T>A (p.Phe1402Tyr)
n.4356T>A
c.4202T>A (p.Phe1401Tyr)
c.4376T>A (p.Phe1459Tyr)
7g.41964695A>CCA367315153GLI3c.4378T>G (p.Phe1460Val)
c.4204T>G (p.Phe1402Val)
n.4355T>G
c.4201T>G (p.Phe1401Val)
c.4375T>G (p.Phe1459Val)
7g.41964695A>GCA367315154GLI3c.4378T>C (p.Phe1460Leu)
c.4204T>C (p.Phe1402Leu)
n.4355T>C
c.4201T>C (p.Phe1401Leu)
c.4375T>C (p.Phe1459Leu)
7g.41964695A>TCA367315155GLI3c.4378T>A (p.Phe1460Ile)
c.4204T>A (p.Phe1402Ile)
n.4355T>A
c.4201T>A (p.Phe1401Ile)
c.4375T>A (p.Phe1459Ile)
7g.41964696T>ACA454657423GLI3c.4377A>T (p.Ser1459=)
c.4203A>T (p.Ser1401=)
n.4354A>T
c.4200A>T (p.Ser1400=)
c.4374A>T (p.Ser1458=)
7g.41964696T>CCA454657424GLI3c.4377A>G (p.Ser1459=)
c.4203A>G (p.Ser1401=)
n.4354A>G
c.4200A>G (p.Ser1400=)
c.4374A>G (p.Ser1458=)
 gnomAD v4
7g.41964696T>GCA454657425GLI3c.4377A>C (p.Ser1459=)
c.4203A>C (p.Ser1401=)
n.4354A>C
c.4200A>C (p.Ser1400=)
c.4374A>C (p.Ser1458=)
7g.41964697G>ACA367315156GLI3c.4376C>T (p.Ser1459Leu)
c.4202C>T (p.Ser1401Leu)
n.4353C>T
c.4199C>T (p.Ser1400Leu)
c.4373C>T (p.Ser1458Leu)
 dbSNP
7g.41964697G>CCA367315157GLI3c.4376C>G (p.Ser1459Ter)
c.4202C>G (p.Ser1401Ter)
n.4353C>G
c.4199C>G (p.Ser1400Ter)
c.4373C>G (p.Ser1458Ter)
7g.41964697G=CA1702660391GLI3c.4376C= (p.Ser1459=)
c.4202C= (p.Ser1401=)
n.4353C=
c.4199C= (p.Ser1400=)
c.4373C= (p.Ser1458=)
7g.41964697G>TCA367315158GLI3c.4376C>A (p.Ser1459Ter)
c.4202C>A (p.Ser1401Ter)
n.4353C>A
c.4199C>A (p.Ser1400Ter)
c.4373C>A (p.Ser1458Ter)
7g.41964698A>CCA367315159GLI3c.4375T>G (p.Ser1459Ala)
c.4201T>G (p.Ser1401Ala)
n.4352T>G
c.4198T>G (p.Ser1400Ala)
c.4372T>G (p.Ser1458Ala)
7g.41964698A>GCA367315160GLI3c.4375T>C (p.Ser1459Pro)
c.4201T>C (p.Ser1401Pro)
n.4352T>C
c.4198T>C (p.Ser1400Pro)
c.4372T>C (p.Ser1458Pro)
7g.41964698A>TCA367315161GLI3c.4375T>A (p.Ser1459Thr)
c.4201T>A (p.Ser1401Thr)
n.4352T>A
c.4198T>A (p.Ser1400Thr)
c.4372T>A (p.Ser1458Thr)
 gnomAD v4
7g.41964699A=CA1702660392GLI3c.4374T= (p.Gly1458=)
c.4200T= (p.Gly1400=)
n.4351T=
c.4197T= (p.Gly1399=)
c.4371T= (p.Gly1457=)
7g.41964699A>CCA454657426GLI3c.4374T>G (p.Gly1458=)
c.4200T>G (p.Gly1400=)
n.4351T>G
c.4197T>G (p.Gly1399=)
c.4371T>G (p.Gly1457=)
7g.41964699A>GCA454657427GLI3c.4374T>C (p.Gly1458=)
c.4200T>C (p.Gly1400=)
n.4351T>C
c.4197T>C (p.Gly1399=)
c.4371T>C (p.Gly1457=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41964699A>TCA454657428GLI3c.4374T>A (p.Gly1458=)
c.4200T>A (p.Gly1400=)
n.4351T>A
c.4197T>A (p.Gly1399=)
c.4371T>A (p.Gly1457=)
7g.41964700C>ACA4230143GLI3c.4373G>T (p.Gly1458Val)
c.4199G>T (p.Gly1400Val)
n.4350G>T
c.4196G>T (p.Gly1399Val)
c.4370G>T (p.Gly1457Val)
 dbSNP ExAC gnomAD v3 gnomAD v4
7g.41964700C=CA1702660393GLI3c.4373G= (p.Gly1458=)
c.4199G= (p.Gly1400=)
n.4350G=
c.4196G= (p.Gly1399=)
c.4370G= (p.Gly1457=)
7g.41964700C>GCA367315162GLI3c.4373G>C (p.Gly1458Ala)
c.4199G>C (p.Gly1400Ala)
n.4350G>C
c.4196G>C (p.Gly1399Ala)
c.4370G>C (p.Gly1457Ala)
 gnomAD v4
7g.41964700C>TCA367315163GLI3c.4373G>A (p.Gly1458Asp)
c.4199G>A (p.Gly1400Asp)
n.4350G>A
c.4196G>A (p.Gly1399Asp)
c.4370G>A (p.Gly1457Asp)
 gnomAD v4
7g.41964701C>ACA367315166GLI3c.4372G>T (p.Gly1458Cys)
c.4198G>T (p.Gly1400Cys)
n.4349G>T
c.4195G>T (p.Gly1399Cys)
c.4369G>T (p.Gly1457Cys)
 COSMIC
7g.41964701C>GCA367315165GLI3c.4372G>C (p.Gly1458Arg)
c.4198G>C (p.Gly1400Arg)
n.4349G>C
c.4195G>C (p.Gly1399Arg)
c.4369G>C (p.Gly1457Arg)
7g.41964701C>TCA367315164GLI3c.4372G>A (p.Gly1458Ser)
c.4198G>A (p.Gly1400Ser)
n.4349G>A
c.4195G>A (p.Gly1399Ser)
c.4369G>A (p.Gly1457Ser)
7g.41964702A>CCA454657429GLI3c.4371T>G (p.Ala1457=)
c.4197T>G (p.Ala1399=)
n.4348T>G
c.4194T>G (p.Ala1398=)
c.4368T>G (p.Ala1456=)
7g.41964702A>GCA454657430GLI3c.4371T>C (p.Ala1457=)
c.4197T>C (p.Ala1399=)
n.4348T>C
c.4194T>C (p.Ala1398=)
c.4368T>C (p.Ala1456=)
7g.41964702A>TCA454657431GLI3c.4371T>A (p.Ala1457=)
c.4197T>A (p.Ala1399=)
n.4348T>A
c.4194T>A (p.Ala1398=)
c.4368T>A (p.Ala1456=)
7g.41964703G>ACA4230144GLI3c.4370C>T (p.Ala1457Val)
c.4196C>T (p.Ala1399Val)
n.4347C>T
c.4193C>T (p.Ala1398Val)
c.4367C>T (p.Ala1456Val)
 dbSNP ExAC gnomAD v3 gnomAD v4
7g.41964703G>CCA367315168GLI3c.4370C>G (p.Ala1457Gly)
c.4196C>G (p.Ala1399Gly)
n.4347C>G
c.4193C>G (p.Ala1398Gly)
c.4367C>G (p.Ala1456Gly)
 dbSNP
7g.41964703G=CA1702660394GLI3c.4370C= (p.Ala1457=)
c.4196C= (p.Ala1399=)
n.4347C=
c.4193C= (p.Ala1398=)
c.4367C= (p.Ala1456=)
7g.41964703G>TCA367315167GLI3c.4370C>A (p.Ala1457Asp)
c.4196C>A (p.Ala1399Asp)
n.4347C>A
c.4193C>A (p.Ala1398Asp)
c.4367C>A (p.Ala1456Asp)
 gnomAD v4
7g.41964703_41964704dupCA2695207615GLI3c.4369_4370dup (p.Gly1458LeufsTer?)
c.4195_4196dup (p.Gly1400LeufsTer?)
n.4346_4347dup
c.4192_4193dup (p.Gly1399LeufsTer?)
c.4366_4367dup (p.Gly1457LeufsTer?)
7g.41964704C>ACA367315169GLI3c.4369G>T (p.Ala1457Ser)
c.4195G>T (p.Ala1399Ser)
n.4346G>T
c.4192G>T (p.Ala1398Ser)
c.4366G>T (p.Ala1456Ser)
7g.41964704C=CA1702660395GLI3c.4369G= (p.Ala1457=)
c.4195G= (p.Ala1399=)
n.4346G=
c.4192G= (p.Ala1398=)
c.4366G= (p.Ala1456=)
7g.41964704C>GCA367315170GLI3c.4369G>C (p.Ala1457Pro)
c.4195G>C (p.Ala1399Pro)
n.4346G>C
c.4192G>C (p.Ala1398Pro)
c.4366G>C (p.Ala1456Pro)
7g.41964704C>TCA367315171GLI3c.4369G>A (p.Ala1457Thr)
c.4195G>A (p.Ala1399Thr)
n.4346G>A
c.4192G>A (p.Ala1398Thr)
c.4366G>A (p.Ala1456Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41964705T>ACA367315172GLI3c.4368A>T (p.Lys1456Asn)
c.4194A>T (p.Lys1398Asn)
n.4345A>T
c.4191A>T (p.Lys1397Asn)
c.4365A>T (p.Lys1455Asn)
7g.41964705T>CCA454657432GLI3c.4368A>G (p.Lys1456=)
c.4194A>G (p.Lys1398=)
n.4345A>G
c.4191A>G (p.Lys1397=)
c.4365A>G (p.Lys1455=)
 gnomAD v4
7g.41964705T>GCA367315173GLI3c.4368A>C (p.Lys1456Asn)
c.4194A>C (p.Lys1398Asn)
n.4345A>C
c.4191A>C (p.Lys1397Asn)
c.4365A>C (p.Lys1455Asn)
 dbSNP gnomAD v2 gnomAD v4
7g.41964705T=CA1702660396GLI3c.4368A= (p.Lys1456=)
c.4194A= (p.Lys1398=)
n.4345A=
c.4191A= (p.Lys1397=)
c.4365A= (p.Lys1455=)
7g.41964706T>ACA367315174GLI3c.4367A>T (p.Lys1456Ile)
c.4193A>T (p.Lys1398Ile)
n.4344A>T
c.4190A>T (p.Lys1397Ile)
c.4364A>T (p.Lys1455Ile)
7g.41964706T>CCA367315175GLI3c.4367A>G (p.Lys1456Arg)
c.4193A>G (p.Lys1398Arg)
n.4344A>G
c.4190A>G (p.Lys1397Arg)
c.4364A>G (p.Lys1455Arg)
7g.41964706T>GCA367315176GLI3c.4367A>C (p.Lys1456Thr)
c.4193A>C (p.Lys1398Thr)
n.4344A>C
c.4190A>C (p.Lys1397Thr)
c.4364A>C (p.Lys1455Thr)
7g.41964707T>ACA367315177GLI3c.4366A>T (p.Lys1456Ter)
c.4192A>T (p.Lys1398Ter)
n.4343A>T
c.4189A>T (p.Lys1397Ter)
c.4363A>T (p.Lys1455Ter)
7g.41964707T>CCA367315178GLI3c.4366A>G (p.Lys1456Glu)
c.4192A>G (p.Lys1398Glu)
n.4343A>G
c.4189A>G (p.Lys1397Glu)
c.4363A>G (p.Lys1455Glu)
7g.41964707T>GCA367315179GLI3c.4366A>C (p.Lys1456Gln)
c.4192A>C (p.Lys1398Gln)
n.4343A>C
c.4189A>C (p.Lys1397Gln)
c.4363A>C (p.Lys1455Gln)
7g.41964708C>ACA454657433GLI3c.4365G>T (p.Thr1455=)
c.4191G>T (p.Thr1397=)
n.4342G>T
c.4188G>T (p.Thr1396=)
c.4362G>T (p.Thr1454=)
7g.41964708C=CA1702660397GLI3c.4365G= (p.Thr1455=)
c.4191G= (p.Thr1397=)
n.4342G=
c.4188G= (p.Thr1396=)
c.4362G= (p.Thr1454=)
7g.41964708C>GCA454657434GLI3c.4365G>C (p.Thr1455=)
c.4191G>C (p.Thr1397=)
n.4342G>C
c.4188G>C (p.Thr1396=)
c.4362G>C (p.Thr1454=)
7g.41964708C>TCA4230145GLI3c.4365G>A (p.Thr1455=)
c.4191G>A (p.Thr1397=)
n.4342G>A
c.4188G>A (p.Thr1396=)
c.4362G>A (p.Thr1454=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.41964709G>ACA156902200GLI3c.4364C>T (p.Thr1455Met)
c.4190C>T (p.Thr1397Met)
n.4341C>T
c.4187C>T (p.Thr1396Met)
c.4361C>T (p.Thr1454Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41964709G>CCA367315180GLI3c.4364C>G (p.Thr1455Arg)
c.4190C>G (p.Thr1397Arg)
n.4341C>G
c.4187C>G (p.Thr1396Arg)
c.4361C>G (p.Thr1454Arg)
 dbSNP gnomAD v2 gnomAD v4
7g.41964709G=CA1702660398GLI3c.4364C= (p.Thr1455=)
c.4190C= (p.Thr1397=)
n.4341C=
c.4187C= (p.Thr1396=)
c.4361C= (p.Thr1454=)
7g.41964709G>TCA367315181GLI3c.4364C>A (p.Thr1455Lys)
c.4190C>A (p.Thr1397Lys)
n.4341C>A
c.4187C>A (p.Thr1396Lys)
c.4361C>A (p.Thr1454Lys)
7g.41964710T>ACA367315182GLI3c.4363A>T (p.Thr1455Ser)
c.4189A>T (p.Thr1397Ser)
n.4340A>T
c.4186A>T (p.Thr1396Ser)
c.4360A>T (p.Thr1454Ser)
7g.41964710T>CCA367315183GLI3c.4363A>G (p.Thr1455Ala)
c.4189A>G (p.Thr1397Ala)
n.4340A>G
c.4186A>G (p.Thr1396Ala)
c.4360A>G (p.Thr1454Ala)
7g.41964710T>GCA367315184GLI3c.4363A>C (p.Thr1455Pro)
c.4189A>C (p.Thr1397Pro)
n.4340A>C
c.4186A>C (p.Thr1396Pro)
c.4360A>C (p.Thr1454Pro)
 gnomAD v4
7g.41964711G>ACA454657435GLI3c.4362C>T (p.Asp1454=)
c.4188C>T (p.Asp1396=)
n.4339C>T
c.4185C>T (p.Asp1395=)
c.4359C>T (p.Asp1453=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.41964711G>CCA367315185GLI3c.4362C>G (p.Asp1454Glu)
c.4188C>G (p.Asp1396Glu)
n.4339C>G
c.4185C>G (p.Asp1395Glu)
c.4359C>G (p.Asp1453Glu)
7g.41964711G>TCA367315186GLI3c.4362C>A (p.Asp1454Glu)
c.4188C>A (p.Asp1396Glu)
n.4339C>A
c.4185C>A (p.Asp1395Glu)
c.4359C>A (p.Asp1453Glu)
7g.41964712T>ACA367315187GLI3c.4361A>T (p.Asp1454Val)
c.4187A>T (p.Asp1396Val)
n.4338A>T
c.4184A>T (p.Asp1395Val)
c.4358A>T (p.Asp1453Val)
7g.41964712T>CCA367315188GLI3c.4361A>G (p.Asp1454Gly)
c.4187A>G (p.Asp1396Gly)
n.4338A>G
c.4184A>G (p.Asp1395Gly)
c.4358A>G (p.Asp1453Gly)
 dbSNP gnomAD v3 gnomAD v4
7g.41964712T>GCA367315189GLI3c.4361A>C (p.Asp1454Ala)
c.4187A>C (p.Asp1396Ala)
n.4338A>C
c.4184A>C (p.Asp1395Ala)
c.4358A>C (p.Asp1453Ala)
7g.41964712T=CA1702660399GLI3c.4361A= (p.Asp1454=)
c.4187A= (p.Asp1396=)
n.4338A=
c.4184A= (p.Asp1395=)
c.4358A= (p.Asp1453=)
7g.41964713C>ACA367315190GLI3c.4360G>T (p.Asp1454Tyr)
c.4186G>T (p.Asp1396Tyr)
n.4337G>T
c.4183G>T (p.Asp1395Tyr)
c.4357G>T (p.Asp1453Tyr)
7g.41964713C>GCA367315191GLI3c.4360G>C (p.Asp1454His)
c.4186G>C (p.Asp1396His)
n.4337G>C
c.4183G>C (p.Asp1395His)
c.4357G>C (p.Asp1453His)
7g.41964713C>TCA367315192GLI3c.4360G>A (p.Asp1454Asn)
c.4186G>A (p.Asp1396Asn)
n.4337G>A
c.4183G>A (p.Asp1395Asn)
c.4357G>A (p.Asp1453Asn)
7g.41964714T>ACA367315193GLI3c.4359A>T (p.Gln1453His)
c.4185A>T (p.Gln1395His)
n.4336A>T
c.4182A>T (p.Gln1394His)
c.4356A>T (p.Gln1452His)
7g.41964714T>CCA454657436GLI3c.4359A>G (p.Gln1453=)
c.4185A>G (p.Gln1395=)
n.4336A>G
c.4182A>G (p.Gln1394=)
c.4356A>G (p.Gln1452=)
7g.41964714T>GCA367315194GLI3c.4359A>C (p.Gln1453His)
c.4185A>C (p.Gln1395His)
n.4336A>C
c.4182A>C (p.Gln1394His)
c.4356A>C (p.Gln1452His)
7g.41964715delCA2695207616GLI3c.4359del (p.Asp1454ThrfsTer?)
c.4185del (p.Asp1396ThrfsTer?)
n.4336del
c.4182del (p.Asp1395ThrfsTer?)
c.4356del (p.Asp1453ThrfsTer?)
7g.41964715T>ACA367315195GLI3c.4358A>T (p.Gln1453Leu)
c.4184A>T (p.Gln1395Leu)
n.4335A>T
c.4181A>T (p.Gln1394Leu)
c.4355A>T (p.Gln1452Leu)
 dbSNP gnomAD v3 gnomAD v4
7g.41964715T>CCA367315196GLI3c.4358A>G (p.Gln1453Arg)
c.4184A>G (p.Gln1395Arg)
n.4335A>G
c.4181A>G (p.Gln1394Arg)
c.4355A>G (p.Gln1452Arg)
7g.41964715T>GCA367315197GLI3c.4358A>C (p.Gln1453Pro)
c.4184A>C (p.Gln1395Pro)
n.4335A>C
c.4181A>C (p.Gln1394Pro)
c.4355A>C (p.Gln1452Pro)
7g.41964715T=CA1702660400GLI3c.4358A= (p.Gln1453=)
c.4184A= (p.Gln1395=)
n.4335A=
c.4181A= (p.Gln1394=)
c.4355A= (p.Gln1452=)
7g.41964716G>ACA367315198GLI3c.4357C>T (p.Gln1453Ter)
c.4183C>T (p.Gln1395Ter)
n.4334C>T
c.4180C>T (p.Gln1394Ter)
c.4354C>T (p.Gln1452Ter)
7g.41964716G>CCA367315199GLI3c.4357C>G (p.Gln1453Glu)
c.4183C>G (p.Gln1395Glu)
n.4334C>G
c.4180C>G (p.Gln1394Glu)
c.4354C>G (p.Gln1452Glu)
7g.41964716G>TCA367315200GLI3c.4357C>A (p.Gln1453Lys)
c.4183C>A (p.Gln1395Lys)
n.4334C>A
c.4180C>A (p.Gln1394Lys)
c.4354C>A (p.Gln1452Lys)
7g.41964717C>ACA367315201GLI3c.4356G>T (p.Gln1452His)
c.4182G>T (p.Gln1394His)
n.4333G>T
c.4179G>T (p.Gln1393His)
c.4353G>T (p.Gln1451His)
 gnomAD v4
7g.41964717C=CA1702660401GLI3c.4356G= (p.Gln1452=)
c.4182G= (p.Gln1394=)
n.4333G=
c.4179G= (p.Gln1393=)
c.4353G= (p.Gln1451=)
7g.41964717C>GCA367315202GLI3c.4356G>C (p.Gln1452His)
c.4182G>C (p.Gln1394His)
n.4333G>C
c.4179G>C (p.Gln1393His)
c.4353G>C (p.Gln1451His)
7g.41964717C>TCA4230146GLI3c.4356G>A (p.Gln1452=)
c.4182G>A (p.Gln1394=)
n.4333G>A
c.4179G>A (p.Gln1393=)
c.4353G>A (p.Gln1451=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41964718T>ACA367315203GLI3c.4355A>T (p.Gln1452Leu)
c.4181A>T (p.Gln1394Leu)
n.4332A>T
c.4178A>T (p.Gln1393Leu)
c.4352A>T (p.Gln1451Leu)
7g.41964718T>CCA367315204GLI3c.4355A>G (p.Gln1452Arg)
c.4181A>G (p.Gln1394Arg)
n.4332A>G
c.4178A>G (p.Gln1393Arg)
c.4352A>G (p.Gln1451Arg)
7g.41964718T>GCA367315205GLI3c.4355A>C (p.Gln1452Pro)
c.4181A>C (p.Gln1394Pro)
n.4332A>C
c.4178A>C (p.Gln1393Pro)
c.4352A>C (p.Gln1451Pro)
7g.41964719G>ACA367315208GLI3c.4354C>T (p.Gln1452Ter)
c.4180C>T (p.Gln1394Ter)
n.4331C>T
c.4177C>T (p.Gln1393Ter)
c.4351C>T (p.Gln1451Ter)
 ClinVar
7g.41964719G>CCA367315207GLI3c.4354C>G (p.Gln1452Glu)
c.4180C>G (p.Gln1394Glu)
n.4331C>G
c.4177C>G (p.Gln1393Glu)
c.4351C>G (p.Gln1451Glu)
 gnomAD v4
7g.41964719G>TCA367315206GLI3c.4354C>A (p.Gln1452Lys)
c.4180C>A (p.Gln1394Lys)
n.4331C>A
c.4177C>A (p.Gln1393Lys)
c.4351C>A (p.Gln1451Lys)
7g.41964720A=CA1702660402GLI3c.4353T= (p.Ser1451=)
c.4179T= (p.Ser1393=)
n.4330T=
c.4176T= (p.Ser1392=)
c.4350T= (p.Ser1450=)
7g.41964720A>CCA4230147GLI3c.4353T>G (p.Ser1451Arg)
c.4179T>G (p.Ser1393Arg)
n.4330T>G
c.4176T>G (p.Ser1392Arg)
c.4350T>G (p.Ser1450Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41964720A>GCA454657437GLI3c.4353T>C (p.Ser1451=)
c.4179T>C (p.Ser1393=)
n.4330T>C
c.4176T>C (p.Ser1392=)
c.4350T>C (p.Ser1450=)
7g.41964720A>TCA367315209GLI3c.4353T>A (p.Ser1451Arg)
c.4179T>A (p.Ser1393Arg)
n.4330T>A
c.4176T>A (p.Ser1392Arg)
c.4350T>A (p.Ser1450Arg)
7g.41964721C>ACA367315210GLI3c.4352G>T (p.Ser1451Ile)
c.4178G>T (p.Ser1393Ile)
n.4329G>T
c.4175G>T (p.Ser1392Ile)
c.4349G>T (p.Ser1450Ile)
 dbSNP
7g.41964721C=CA1702660403GLI3c.4352G= (p.Ser1451=)
c.4178G= (p.Ser1393=)
n.4329G=
c.4175G= (p.Ser1392=)
c.4349G= (p.Ser1450=)
7g.41964721C>GCA367315211GLI3c.4352G>C (p.Ser1451Thr)
c.4178G>C (p.Ser1393Thr)
n.4329G>C
c.4175G>C (p.Ser1392Thr)
c.4349G>C (p.Ser1450Thr)
7g.41964721C>TCA4230148GLI3c.4352G>A (p.Ser1451Asn)
c.4178G>A (p.Ser1393Asn)
n.4329G>A
c.4175G>A (p.Ser1392Asn)
c.4349G>A (p.Ser1450Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41964722T>ACA367315212GLI3c.4351A>T (p.Ser1451Cys)
c.4177A>T (p.Ser1393Cys)
n.4328A>T
c.4174A>T (p.Ser1392Cys)
c.4348A>T (p.Ser1450Cys)
 gnomAD v4
7g.41964722T>CCA367315213GLI3c.4351A>G (p.Ser1451Gly)
c.4177A>G (p.Ser1393Gly)
n.4328A>G
c.4174A>G (p.Ser1392Gly)
c.4348A>G (p.Ser1450Gly)
 gnomAD v4
7g.41964722T>GCA367315214GLI3c.4351A>C (p.Ser1451Arg)
c.4177A>C (p.Ser1393Arg)
n.4328A>C
c.4174A>C (p.Ser1392Arg)
c.4348A>C (p.Ser1450Arg)
7g.41964723G>ACA454657438GLI3c.4350C>T (p.Phe1450=)
c.4176C>T (p.Phe1392=)
n.4327C>T
c.4173C>T (p.Phe1391=)
c.4347C>T (p.Phe1449=)
7g.41964723G>CCA367315215GLI3c.4350C>G (p.Phe1450Leu)
c.4176C>G (p.Phe1392Leu)
n.4327C>G
c.4173C>G (p.Phe1391Leu)
c.4347C>G (p.Phe1449Leu)
7g.41964723G>TCA367315216GLI3c.4350C>A (p.Phe1450Leu)
c.4176C>A (p.Phe1392Leu)
n.4327C>A
c.4173C>A (p.Phe1391Leu)
c.4347C>A (p.Phe1449Leu)
7g.41964724A=CA1702660404GLI3c.4349T= (p.Phe1450=)
c.4175T= (p.Phe1392=)
n.4326T=
c.4172T= (p.Phe1391=)
c.4346T= (p.Phe1449=)
7g.41964724A>CCA10604067GLI3c.4349T>G (p.Phe1450Cys)
c.4175T>G (p.Phe1392Cys)
n.4326T>G
c.4172T>G (p.Phe1391Cys)
c.4346T>G (p.Phe1449Cys)
 ClinVar dbSNP
7g.41964724A>GCA367315217GLI3c.4349T>C (p.Phe1450Ser)
c.4175T>C (p.Phe1392Ser)
n.4326T>C
c.4172T>C (p.Phe1391Ser)
c.4346T>C (p.Phe1449Ser)
7g.41964724A>TCA367315218GLI3c.4349T>A (p.Phe1450Tyr)
c.4175T>A (p.Phe1392Tyr)
n.4326T>A
c.4172T>A (p.Phe1391Tyr)
c.4346T>A (p.Phe1449Tyr)
7g.41964725A>CCA367315220GLI3c.4348T>G (p.Phe1450Val)
c.4174T>G (p.Phe1392Val)
n.4325T>G
c.4171T>G (p.Phe1391Val)
c.4345T>G (p.Phe1449Val)
7g.41964725A>GCA367315221GLI3c.4348T>C (p.Phe1450Leu)
c.4174T>C (p.Phe1392Leu)
n.4325T>C
c.4171T>C (p.Phe1391Leu)
c.4345T>C (p.Phe1449Leu)
 COSMIC
7g.41964725A>TCA367315219GLI3c.4348T>A (p.Phe1450Ile)
c.4174T>A (p.Phe1392Ile)
n.4325T>A
c.4171T>A (p.Phe1391Ile)
c.4345T>A (p.Phe1449Ile)
7g.41964726G>ACA454657441GLI3c.4347C>T (p.Gly1449=)
c.4173C>T (p.Gly1391=)
n.4324C>T
c.4170C>T (p.Gly1390=)
c.4344C>T (p.Gly1448=)
 dbSNP
7g.41964726G>CCA454657440GLI3c.4347C>G (p.Gly1449=)
c.4173C>G (p.Gly1391=)
n.4324C>G
c.4170C>G (p.Gly1390=)
c.4344C>G (p.Gly1448=)
 gnomAD v4
7g.41964726G>TCA454657439GLI3c.4347C>A (p.Gly1449=)
c.4173C>A (p.Gly1391=)
n.4324C>A
c.4170C>A (p.Gly1390=)
c.4344C>A (p.Gly1448=)
7g.41964727C>ACA367315223GLI3c.4346G>T (p.Gly1449Val)
c.4172G>T (p.Gly1391Val)
n.4323G>T
c.4169G>T (p.Gly1390Val)
c.4343G>T (p.Gly1448Val)
7g.41964727C=CA1702660405GLI3c.4346G= (p.Gly1449=)
c.4172G= (p.Gly1391=)
n.4323G=
c.4169G= (p.Gly1390=)
c.4343G= (p.Gly1448=)
7g.41964727C>GCA367315222GLI3c.4346G>C (p.Gly1449Ala)
c.4172G>C (p.Gly1391Ala)
n.4323G>C
c.4169G>C (p.Gly1390Ala)
c.4343G>C (p.Gly1448Ala)
7g.41964727C>TCA367315224GLI3c.4346G>A (p.Gly1449Asp)
c.4172G>A (p.Gly1391Asp)
n.4323G>A
c.4169G>A (p.Gly1390Asp)
c.4343G>A (p.Gly1448Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41964729delCA2573142118GLI3c.4346del (p.Gly1449AlafsTer?)
c.4172del (p.Gly1391AlafsTer?)
n.4323del
c.4169del (p.Gly1390AlafsTer?)
c.4343del (p.Gly1448AlafsTer?)
 ClinVar dbSNP
7g.41964728C>ACA367315225GLI3c.4345G>T (p.Gly1449Cys)
c.4171G>T (p.Gly1391Cys)
n.4322G>T
c.4168G>T (p.Gly1390Cys)
c.4342G>T (p.Gly1448Cys)
7g.41964728C>GCA367315227GLI3c.4345G>C (p.Gly1449Arg)
c.4171G>C (p.Gly1391Arg)
n.4322G>C
c.4168G>C (p.Gly1390Arg)
c.4342G>C (p.Gly1448Arg)
7g.41964728C>TCA367315226GLI3c.4345G>A (p.Gly1449Ser)
c.4171G>A (p.Gly1391Ser)
n.4322G>A
c.4168G>A (p.Gly1390Ser)
c.4342G>A (p.Gly1448Ser)
7g.41964729C>ACA454657444GLI3c.4344G>T (p.Val1448=)
c.4170G>T (p.Val1390=)
n.4321G>T
c.4167G>T (p.Val1389=)
c.4341G>T (p.Val1447=)
7g.41964729C>GCA454657443GLI3c.4344G>C (p.Val1448=)
c.4170G>C (p.Val1390=)
n.4321G>C
c.4167G>C (p.Val1389=)
c.4341G>C (p.Val1447=)
7g.41964729C>TCA454657442GLI3c.4344G>A (p.Val1448=)
c.4170G>A (p.Val1390=)
n.4321G>A
c.4167G>A (p.Val1389=)
c.4341G>A (p.Val1447=)
7g.41964730A>CCA367315228GLI3c.4343T>G (p.Val1448Gly)
c.4169T>G (p.Val1390Gly)
n.4320T>G
c.4166T>G (p.Val1389Gly)
c.4340T>G (p.Val1447Gly)
7g.41964730A>GCA367315229GLI3c.4343T>C (p.Val1448Ala)
c.4169T>C (p.Val1390Ala)
n.4320T>C
c.4166T>C (p.Val1389Ala)
c.4340T>C (p.Val1447Ala)
7g.41964730A>TCA367315230GLI3c.4343T>A (p.Val1448Glu)
c.4169T>A (p.Val1390Glu)
n.4320T>A
c.4166T>A (p.Val1389Glu)
c.4340T>A (p.Val1447Glu)
 COSMIC
7g.41964731C>ACA367315231GLI3c.4342G>T (p.Val1448Leu)
c.4168G>T (p.Val1390Leu)
n.4319G>T
c.4165G>T (p.Val1389Leu)
c.4339G>T (p.Val1447Leu)
7g.41964731C=CA1702660406GLI3c.4342G= (p.Val1448=)
c.4168G= (p.Val1390=)
n.4319G=
c.4165G= (p.Val1389=)
c.4339G= (p.Val1447=)
7g.41964731C>GCA367315232GLI3c.4342G>C (p.Val1448Leu)
c.4168G>C (p.Val1390Leu)
n.4319G>C
c.4165G>C (p.Val1389Leu)
c.4339G>C (p.Val1447Leu)
 gnomAD v4
7g.41964731C>TCA4230149GLI3c.4342G>A (p.Val1448Met)
c.4168G>A (p.Val1390Met)
n.4319G>A
c.4165G>A (p.Val1389Met)
c.4339G>A (p.Val1447Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched