Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.41964348G>ACA454656110GLI3c.4725C>T (p.Phe1575=)
c.4551C>T (p.Phe1517=)
n.4702C>T
c.4548C>T (p.Phe1516=)
c.4722C>T (p.Phe1574=)
 COSMIC
7g.41964348G>CCA367314429GLI3c.4725C>G (p.Phe1575Leu)
c.4551C>G (p.Phe1517Leu)
n.4702C>G
c.4548C>G (p.Phe1516Leu)
c.4722C>G (p.Phe1574Leu)
7g.41964348G>TCA367314430GLI3c.4725C>A (p.Phe1575Leu)
c.4551C>A (p.Phe1517Leu)
n.4702C>A
c.4548C>A (p.Phe1516Leu)
c.4722C>A (p.Phe1574Leu)
 gnomAD v4
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.41964349A>CCA367314431GLI3c.4724T>G (p.Phe1575Cys)
c.4550T>G (p.Phe1517Cys)
n.4701T>G
c.4547T>G (p.Phe1516Cys)
c.4721T>G (p.Phe1574Cys)
7g.41964349A>GCA367314432GLI3c.4724T>C (p.Phe1575Ser)
c.4550T>C (p.Phe1517Ser)
n.4701T>C
c.4547T>C (p.Phe1516Ser)
c.4721T>C (p.Phe1574Ser)
7g.41964349A>TCA367314433GLI3c.4724T>A (p.Phe1575Tyr)
c.4550T>A (p.Phe1517Tyr)
n.4701T>A
c.4547T>A (p.Phe1516Tyr)
c.4721T>A (p.Phe1574Tyr)
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.41964350A>CCA367314436GLI3c.4723T>G (p.Phe1575Val)
c.4549T>G (p.Phe1517Val)
n.4700T>G
c.4546T>G (p.Phe1516Val)
c.4720T>G (p.Phe1574Val)
7g.41964350A>GCA367314435GLI3c.4723T>C (p.Phe1575Leu)
c.4549T>C (p.Phe1517Leu)
n.4700T>C
c.4546T>C (p.Phe1516Leu)
c.4720T>C (p.Phe1574Leu)
7g.41964350A>TCA367314434GLI3c.4723T>A (p.Phe1575Ile)
c.4549T>A (p.Phe1517Ile)
n.4700T>A
c.4546T>A (p.Phe1516Ile)
c.4720T>A (p.Phe1574Ile)
7g.41964351T>ACA367314437GLI3c.4722A>T (p.Lys1574Asn)
c.4548A>T (p.Lys1516Asn)
n.4699A>T
c.4545A>T (p.Lys1515Asn)
c.4719A>T (p.Lys1573Asn)
7g.41964351T>CCA454656115GLI3c.4722A>G (p.Lys1574=)
c.4548A>G (p.Lys1516=)
n.4699A>G
c.4545A>G (p.Lys1515=)
c.4719A>G (p.Lys1573=)
 gnomAD v4
7g.41964351T>GCA367314438GLI3c.4722A>C (p.Lys1574Asn)
c.4548A>C (p.Lys1516Asn)
n.4699A>C
c.4545A>C (p.Lys1515Asn)
c.4719A>C (p.Lys1573Asn)
7g.41964352T>ACA367314439GLI3c.4721A>T (p.Lys1574Ile)
c.4547A>T (p.Lys1516Ile)
n.4698A>T
c.4544A>T (p.Lys1515Ile)
c.4718A>T (p.Lys1573Ile)
7g.41964352T>CCA367314441GLI3c.4721A>G (p.Lys1574Arg)
c.4547A>G (p.Lys1516Arg)
n.4698A>G
c.4544A>G (p.Lys1515Arg)
c.4718A>G (p.Lys1573Arg)
 dbSNP
7g.41964352T>GCA367314440GLI3c.4721A>C (p.Lys1574Thr)
c.4547A>C (p.Lys1516Thr)
n.4698A>C
c.4544A>C (p.Lys1515Thr)
c.4718A>C (p.Lys1573Thr)
 gnomAD v4
7g.41964352T=CA1702660225GLI3c.4721A= (p.Lys1574=)
c.4547A= (p.Lys1516=)
n.4698A=
c.4544A= (p.Lys1515=)
c.4718A= (p.Lys1573=)
7g.41964353T>ACA367314442GLI3c.4720A>T (p.Lys1574Ter)
c.4546A>T (p.Lys1516Ter)
n.4697A>T
c.4543A>T (p.Lys1515Ter)
c.4717A>T (p.Lys1573Ter)
7g.41964353T>CCA367314443GLI3c.4720A>G (p.Lys1574Glu)
c.4546A>G (p.Lys1516Glu)
n.4697A>G
c.4543A>G (p.Lys1515Glu)
c.4717A>G (p.Lys1573Glu)
7g.41964353T>GCA367314444GLI3c.4720A>C (p.Lys1574Gln)
c.4546A>C (p.Lys1516Gln)
n.4697A>C
c.4543A>C (p.Lys1515Gln)
c.4717A>C (p.Lys1573Gln)
7g.41964354G>ACA454656117GLI3c.4719C>T (p.Ser1573=)
c.4545C>T (p.Ser1515=)
n.4696C>T
c.4542C>T (p.Ser1514=)
c.4716C>T (p.Ser1572=)
7g.41964354G>CCA367314445GLI3c.4719C>G (p.Ser1573Arg)
c.4545C>G (p.Ser1515Arg)
n.4696C>G
c.4542C>G (p.Ser1514Arg)
c.4716C>G (p.Ser1572Arg)
 dbSNP gnomAD v2 gnomAD v4
7g.41964354G=CA1702660226GLI3c.4719C= (p.Ser1573=)
c.4545C= (p.Ser1515=)
n.4696C=
c.4542C= (p.Ser1514=)
c.4716C= (p.Ser1572=)
7g.41964354G>TCA367314446GLI3c.4719C>A (p.Ser1573Arg)
c.4545C>A (p.Ser1515Arg)
n.4696C>A
c.4542C>A (p.Ser1514Arg)
c.4716C>A (p.Ser1572Arg)
7g.41964355C>ACA367314447GLI3c.4718G>T (p.Ser1573Ile)
c.4544G>T (p.Ser1515Ile)
n.4695G>T
c.4541G>T (p.Ser1514Ile)
c.4715G>T (p.Ser1572Ile)
7g.41964355C>GCA367314448GLI3c.4718G>C (p.Ser1573Thr)
c.4544G>C (p.Ser1515Thr)
n.4695G>C
c.4541G>C (p.Ser1514Thr)
c.4715G>C (p.Ser1572Thr)
7g.41964355C>TCA367314449GLI3c.4718G>A (p.Ser1573Asn)
c.4544G>A (p.Ser1515Asn)
n.4695G>A
c.4541G>A (p.Ser1514Asn)
c.4715G>A (p.Ser1572Asn)
7g.41964356T>ACA367314450GLI3c.4717A>T (p.Ser1573Cys)
c.4543A>T (p.Ser1515Cys)
n.4694A>T
c.4540A>T (p.Ser1514Cys)
c.4714A>T (p.Ser1572Cys)
7g.41964356T>CCA367314451GLI3c.4717A>G (p.Ser1573Gly)
c.4543A>G (p.Ser1515Gly)
n.4694A>G
c.4540A>G (p.Ser1514Gly)
c.4714A>G (p.Ser1572Gly)
7g.41964356T>GCA367314452GLI3c.4717A>C (p.Ser1573Arg)
c.4543A>C (p.Ser1515Arg)
n.4694A>C
c.4540A>C (p.Ser1514Arg)
c.4714A>C (p.Ser1572Arg)
7g.41964357T>ACA367314454GLI3c.4716A>T (p.Glu1572Asp)
c.4542A>T (p.Glu1514Asp)
n.4693A>T
c.4539A>T (p.Glu1513Asp)
c.4713A>T (p.Glu1571Asp)
7g.41964357T>CCA454656122GLI3c.4716A>G (p.Glu1572=)
c.4542A>G (p.Glu1514=)
n.4693A>G
c.4539A>G (p.Glu1513=)
c.4713A>G (p.Glu1571=)
 gnomAD v4
7g.41964357T>GCA367314453GLI3c.4716A>C (p.Glu1572Asp)
c.4542A>C (p.Glu1514Asp)
n.4693A>C
c.4539A>C (p.Glu1513Asp)
c.4713A>C (p.Glu1571Asp)
7g.41964358T>ACA367314455GLI3c.4715A>T (p.Glu1572Val)
c.4541A>T (p.Glu1514Val)
n.4692A>T
c.4538A>T (p.Glu1513Val)
c.4712A>T (p.Glu1571Val)
7g.41964358T>CCA367314456GLI3c.4715A>G (p.Glu1572Gly)
c.4541A>G (p.Glu1514Gly)
n.4692A>G
c.4538A>G (p.Glu1513Gly)
c.4712A>G (p.Glu1571Gly)
7g.41964358T>GCA367314457GLI3c.4715A>C (p.Glu1572Ala)
c.4541A>C (p.Glu1514Ala)
n.4692A>C
c.4538A>C (p.Glu1513Ala)
c.4712A>C (p.Glu1571Ala)
7g.41964359C>ACA367314458GLI3c.4714G>T (p.Glu1572Ter)
c.4540G>T (p.Glu1514Ter)
n.4691G>T
c.4537G>T (p.Glu1513Ter)
c.4711G>T (p.Glu1571Ter)
7g.41964359C>GCA367314459GLI3c.4714G>C (p.Glu1572Gln)
c.4540G>C (p.Glu1514Gln)
n.4691G>C
c.4537G>C (p.Glu1513Gln)
c.4711G>C (p.Glu1571Gln)
7g.41964359C>TCA367314460GLI3c.4714G>A (p.Glu1572Lys)
c.4540G>A (p.Glu1514Lys)
n.4691G>A
c.4537G>A (p.Glu1513Lys)
c.4711G>A (p.Glu1571Lys)
7g.41964360T>ACA367314461GLI3c.4713A>T (p.Glu1571Asp)
c.4539A>T (p.Glu1513Asp)
n.4690A>T
c.4536A>T (p.Glu1512Asp)
c.4710A>T (p.Glu1570Asp)
7g.41964360T>CCA454656127GLI3c.4713A>G (p.Glu1571=)
c.4539A>G (p.Glu1513=)
n.4690A>G
c.4536A>G (p.Glu1512=)
c.4710A>G (p.Glu1570=)
7g.41964360T>GCA367314462GLI3c.4713A>C (p.Glu1571Asp)
c.4539A>C (p.Glu1513Asp)
n.4690A>C
c.4536A>C (p.Glu1512Asp)
c.4710A>C (p.Glu1570Asp)
7g.41964361T>ACA367314463GLI3c.4712A>T (p.Glu1571Val)
c.4538A>T (p.Glu1513Val)
n.4689A>T
c.4535A>T (p.Glu1512Val)
c.4709A>T (p.Glu1570Val)
7g.41964361T>CCA4230065GLI3c.4712A>G (p.Glu1571Gly)
c.4538A>G (p.Glu1513Gly)
n.4689A>G
c.4535A>G (p.Glu1512Gly)
c.4709A>G (p.Glu1570Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41964361T>GCA367314464GLI3c.4712A>C (p.Glu1571Ala)
c.4538A>C (p.Glu1513Ala)
n.4689A>C
c.4535A>C (p.Glu1512Ala)
c.4709A>C (p.Glu1570Ala)
7g.41964361T=CA1702660227GLI3c.4712A= (p.Glu1571=)
c.4538A= (p.Glu1513=)
n.4689A=
c.4535A= (p.Glu1512=)
c.4709A= (p.Glu1570=)
7g.41964362C>ACA367314466GLI3c.4711G>T (p.Glu1571Ter)
c.4537G>T (p.Glu1513Ter)
n.4688G>T
c.4534G>T (p.Glu1512Ter)
c.4708G>T (p.Glu1570Ter)
7g.41964362C>GCA367314467GLI3c.4711G>C (p.Glu1571Gln)
c.4537G>C (p.Glu1513Gln)
n.4688G>C
c.4534G>C (p.Glu1512Gln)
c.4708G>C (p.Glu1570Gln)
7g.41964362C>TCA367314465GLI3c.4711G>A (p.Glu1571Lys)
c.4537G>A (p.Glu1513Lys)
n.4688G>A
c.4534G>A (p.Glu1512Lys)
c.4708G>A (p.Glu1570Lys)
7g.41964363C>ACA454656135GLI3c.4710G>T (p.Ala1570=)
c.4536G>T (p.Ala1512=)
n.4687G>T
c.4533G>T (p.Ala1511=)
c.4707G>T (p.Ala1569=)
7g.41964363C=CA1702660228GLI3c.4710G= (p.Ala1570=)
c.4536G= (p.Ala1512=)
n.4687G=
c.4533G= (p.Ala1511=)
c.4707G= (p.Ala1569=)
7g.41964363C>GCA454656136GLI3c.4710G>C (p.Ala1570=)
c.4536G>C (p.Ala1512=)
n.4687G>C
c.4533G>C (p.Ala1511=)
c.4707G>C (p.Ala1569=)
7g.41964363C>TCA4230066GLI3c.4710G>A (p.Ala1570=)
c.4536G>A (p.Ala1512=)
n.4687G>A
c.4533G>A (p.Ala1511=)
c.4707G>A (p.Ala1569=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41964364G>ACA4230068GLI3c.4709C>T (p.Ala1570Val)
c.4535C>T (p.Ala1512Val)
n.4686C>T
c.4532C>T (p.Ala1511Val)
c.4706C>T (p.Ala1569Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.41964364G>CCA4230067GLI3c.4709C>G (p.Ala1570Gly)
c.4535C>G (p.Ala1512Gly)
n.4686C>G
c.4532C>G (p.Ala1511Gly)
c.4706C>G (p.Ala1569Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41964364G=CA1702660229GLI3c.4709C= (p.Ala1570=)
c.4535C= (p.Ala1512=)
n.4686C=
c.4532C= (p.Ala1511=)
c.4706C= (p.Ala1569=)
7g.41964364G>TCA156901449GLI3c.4709C>A (p.Ala1570Glu)
c.4535C>A (p.Ala1512Glu)
n.4686C>A
c.4532C>A (p.Ala1511Glu)
c.4706C>A (p.Ala1569Glu)
 dbSNP gnomAD v4
7g.41964365C>ACA367314468GLI3c.4708G>T (p.Ala1570Ser)
c.4534G>T (p.Ala1512Ser)
n.4685G>T
c.4531G>T (p.Ala1511Ser)
c.4705G>T (p.Ala1569Ser)
7g.41964365C>GCA367314469GLI3c.4708G>C (p.Ala1570Pro)
c.4534G>C (p.Ala1512Pro)
n.4685G>C
c.4531G>C (p.Ala1511Pro)
c.4705G>C (p.Ala1569Pro)
7g.41964365C>TCA367314470GLI3c.4708G>A (p.Ala1570Thr)
c.4534G>A (p.Ala1512Thr)
n.4685G>A
c.4531G>A (p.Ala1511Thr)
c.4705G>A (p.Ala1569Thr)
7g.41964366T>ACA454656139GLI3c.4707A>T (p.Leu1569=)
c.4533A>T (p.Leu1511=)
n.4684A>T
c.4530A>T (p.Leu1510=)
c.4704A>T (p.Leu1568=)
7g.41964366T>CCA454656137GLI3c.4707A>G (p.Leu1569=)
c.4533A>G (p.Leu1511=)
n.4684A>G
c.4530A>G (p.Leu1510=)
c.4704A>G (p.Leu1568=)
7g.41964366T>GCA454656138GLI3c.4707A>C (p.Leu1569=)
c.4533A>C (p.Leu1511=)
n.4684A>C
c.4530A>C (p.Leu1510=)
c.4704A>C (p.Leu1568=)
7g.41964367A>CCA367314471GLI3c.4706T>G (p.Leu1569Arg)
c.4532T>G (p.Leu1511Arg)
n.4683T>G
c.4529T>G (p.Leu1510Arg)
c.4703T>G (p.Leu1568Arg)
7g.41964367A>GCA367314473GLI3c.4706T>C (p.Leu1569Pro)
c.4532T>C (p.Leu1511Pro)
n.4683T>C
c.4529T>C (p.Leu1510Pro)
c.4703T>C (p.Leu1568Pro)
7g.41964367A>TCA367314472GLI3c.4706T>A (p.Leu1569Gln)
c.4532T>A (p.Leu1511Gln)
n.4683T>A
c.4529T>A (p.Leu1510Gln)
c.4703T>A (p.Leu1568Gln)
7g.41964367_41964368delinsAGCA1702660230GLI3c.4705_4706delinsCT (p.Leu1569=)
c.4531_4532delinsCT (p.Leu1511=)
n.4682_4683delinsCT
c.4528_4529delinsCT (p.Leu1510=)
c.4702_4703delinsCT (p.Leu1568=)
7g.41964368G>ACA454656140GLI3c.4705C>T (p.Leu1569=)
c.4531C>T (p.Leu1511=)
n.4682C>T
c.4528C>T (p.Leu1510=)
c.4702C>T (p.Leu1568=)
7g.41964368G>CCA367314474GLI3c.4705C>G (p.Leu1569Val)
c.4531C>G (p.Leu1511Val)
n.4682C>G
c.4528C>G (p.Leu1510Val)
c.4702C>G (p.Leu1568Val)
 gnomAD v4 COSMIC
7g.41964368G>TCA367314475GLI3c.4705C>A (p.Leu1569Ile)
c.4531C>A (p.Leu1511Ile)
n.4682C>A
c.4528C>A (p.Leu1510Ile)
c.4702C>A (p.Leu1568Ile)
7g.41964370delCA156901450GLI3c.4705del (p.Leu1569Ter)
c.4531del (p.Leu1511Ter)
n.4682del
c.4528del (p.Leu1510Ter)
c.4702del (p.Leu1568Ter)
 dbSNP
7g.41964369G>ACA454656141GLI3c.4704C>T (p.Ser1568=)
c.4530C>T (p.Ser1510=)
n.4681C>T
c.4527C>T (p.Ser1509=)
c.4701C>T (p.Ser1567=)
7g.41964369G>CCA454656142GLI3c.4704C>G (p.Ser1568=)
c.4530C>G (p.Ser1510=)
n.4681C>G
c.4527C>G (p.Ser1509=)
c.4701C>G (p.Ser1567=)
7g.41964369G=CA1702660231GLI3c.4704C= (p.Ser1568=)
c.4530C= (p.Ser1510=)
n.4681C=
c.4527C= (p.Ser1509=)
c.4701C= (p.Ser1567=)
7g.41964369G>TCA4230069GLI3c.4704C>A (p.Ser1568=)
c.4530C>A (p.Ser1510=)
n.4681C>A
c.4527C>A (p.Ser1509=)
c.4701C>A (p.Ser1567=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41964370G>ACA4230070GLI3c.4703C>T (p.Ser1568Phe)
c.4529C>T (p.Ser1510Phe)
n.4680C>T
c.4526C>T (p.Ser1509Phe)
c.4700C>T (p.Ser1567Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41964370G>CCA367314477GLI3c.4703C>G (p.Ser1568Cys)
c.4529C>G (p.Ser1510Cys)
n.4680C>G
c.4526C>G (p.Ser1509Cys)
c.4700C>G (p.Ser1567Cys)
 gnomAD v4
7g.41964370G=CA1702660232GLI3c.4703C= (p.Ser1568=)
c.4529C= (p.Ser1510=)
n.4680C=
c.4526C= (p.Ser1509=)
c.4700C= (p.Ser1567=)
7g.41964370G>TCA367314476GLI3c.4703C>A (p.Ser1568Tyr)
c.4529C>A (p.Ser1510Tyr)
n.4680C>A
c.4526C>A (p.Ser1509Tyr)
c.4700C>A (p.Ser1567Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41964371A>CCA367314478GLI3c.4702T>G (p.Ser1568Ala)
c.4528T>G (p.Ser1510Ala)
n.4679T>G
c.4525T>G (p.Ser1509Ala)
c.4699T>G (p.Ser1567Ala)
7g.41964371A>GCA367314479GLI3c.4702T>C (p.Ser1568Pro)
c.4528T>C (p.Ser1510Pro)
n.4679T>C
c.4525T>C (p.Ser1509Pro)
c.4699T>C (p.Ser1567Pro)
7g.41964371A>TCA367314480GLI3c.4702T>A (p.Ser1568Thr)
c.4528T>A (p.Ser1510Thr)
n.4679T>A
c.4525T>A (p.Ser1509Thr)
c.4699T>A (p.Ser1567Thr)
7g.41964372G>ACA454656143GLI3c.4701C>T (p.Thr1567=)
c.4527C>T (p.Thr1509=)
n.4678C>T
c.4524C>T (p.Thr1508=)
c.4698C>T (p.Thr1566=)
 gnomAD v4
7g.41964372G>CCA454656144GLI3c.4701C>G (p.Thr1567=)
c.4527C>G (p.Thr1509=)
n.4678C>G
c.4524C>G (p.Thr1508=)
c.4698C>G (p.Thr1566=)
7g.41964372G>TCA454656145GLI3c.4701C>A (p.Thr1567=)
c.4527C>A (p.Thr1509=)
n.4678C>A
c.4524C>A (p.Thr1508=)
c.4698C>A (p.Thr1566=)
7g.41964373G>ACA367314481GLI3c.4700C>T (p.Thr1567Ile)
c.4526C>T (p.Thr1509Ile)
n.4677C>T
c.4523C>T (p.Thr1508Ile)
c.4697C>T (p.Thr1566Ile)
7g.41964373G>CCA367314482GLI3c.4700C>G (p.Thr1567Ser)
c.4526C>G (p.Thr1509Ser)
n.4677C>G
c.4523C>G (p.Thr1508Ser)
c.4697C>G (p.Thr1566Ser)
7g.41964373G>TCA367314483GLI3c.4700C>A (p.Thr1567Asn)
c.4526C>A (p.Thr1509Asn)
n.4677C>A
c.4523C>A (p.Thr1508Asn)
c.4697C>A (p.Thr1566Asn)
7g.41964374T>ACA367314484GLI3c.4699A>T (p.Thr1567Ser)
c.4525A>T (p.Thr1509Ser)
n.4676A>T
c.4522A>T (p.Thr1508Ser)
c.4696A>T (p.Thr1566Ser)
7g.41964374T>CCA367314485GLI3c.4699A>G (p.Thr1567Ala)
c.4525A>G (p.Thr1509Ala)
n.4676A>G
c.4522A>G (p.Thr1508Ala)
c.4696A>G (p.Thr1566Ala)
7g.41964374T>GCA367314486GLI3c.4699A>C (p.Thr1567Pro)
c.4525A>C (p.Thr1509Pro)
n.4676A>C
c.4522A>C (p.Thr1508Pro)
c.4696A>C (p.Thr1566Pro)
7g.41964375C>ACA454656146GLI3c.4698G>T (p.Leu1566=)
c.4524G>T (p.Leu1508=)
n.4675G>T
c.4521G>T (p.Leu1507=)
c.4695G>T (p.Leu1565=)
7g.41964375C=CA1702660233GLI3c.4698G= (p.Leu1566=)
c.4524G= (p.Leu1508=)
n.4675G=
c.4521G= (p.Leu1507=)
c.4695G= (p.Leu1565=)
7g.41964375C>GCA454656147GLI3c.4698G>C (p.Leu1566=)
c.4524G>C (p.Leu1508=)
n.4675G>C
c.4521G>C (p.Leu1507=)
c.4695G>C (p.Leu1565=)
7g.41964375C>TCA156901453GLI3c.4698G>A (p.Leu1566=)
c.4524G>A (p.Leu1508=)
n.4675G>A
c.4521G>A (p.Leu1507=)
c.4695G>A (p.Leu1565=)
 ClinVar dbSNP gnomAD v4
7g.41964376A>CCA367314487GLI3c.4697T>G (p.Leu1566Arg)
c.4523T>G (p.Leu1508Arg)
n.4674T>G
c.4520T>G (p.Leu1507Arg)
c.4694T>G (p.Leu1565Arg)
7g.41964376A>GCA367314488GLI3c.4697T>C (p.Leu1566Pro)
c.4523T>C (p.Leu1508Pro)
n.4674T>C
c.4520T>C (p.Leu1507Pro)
c.4694T>C (p.Leu1565Pro)
7g.41964376A>TCA367314489GLI3c.4697T>A (p.Leu1566Gln)
c.4523T>A (p.Leu1508Gln)
n.4674T>A
c.4520T>A (p.Leu1507Gln)
c.4694T>A (p.Leu1565Gln)
7g.41964377G>ACA454656148GLI3c.4696C>T (p.Leu1566=)
c.4522C>T (p.Leu1508=)
n.4673C>T
c.4519C>T (p.Leu1507=)
c.4693C>T (p.Leu1565=)
7g.41964377G>CCA367314491GLI3c.4696C>G (p.Leu1566Val)
c.4522C>G (p.Leu1508Val)
n.4673C>G
c.4519C>G (p.Leu1507Val)
c.4693C>G (p.Leu1565Val)
7g.41964377G>TCA367314490GLI3c.4696C>A (p.Leu1566Met)
c.4522C>A (p.Leu1508Met)
n.4673C>A
c.4519C>A (p.Leu1507Met)
c.4693C>A (p.Leu1565Met)
7g.41964378C>ACA367314492GLI3c.4695G>T (p.Leu1565Phe)
c.4521G>T (p.Leu1507Phe)
n.4672G>T
c.4518G>T (p.Leu1506Phe)
c.4692G>T (p.Leu1564Phe)
7g.41964378C>GCA367314493GLI3c.4695G>C (p.Leu1565Phe)
c.4521G>C (p.Leu1507Phe)
n.4672G>C
c.4518G>C (p.Leu1506Phe)
c.4692G>C (p.Leu1564Phe)
7g.41964378C>TCA454656149GLI3c.4695G>A (p.Leu1565=)
c.4521G>A (p.Leu1507=)
n.4672G>A
c.4518G>A (p.Leu1506=)
c.4692G>A (p.Leu1564=)
7g.41964379A>CCA367314494GLI3c.4694T>G (p.Leu1565Trp)
c.4520T>G (p.Leu1507Trp)
n.4671T>G
c.4517T>G (p.Leu1506Trp)
c.4691T>G (p.Leu1564Trp)
7g.41964379A>GCA367314495GLI3c.4694T>C (p.Leu1565Ser)
c.4520T>C (p.Leu1507Ser)
n.4671T>C
c.4517T>C (p.Leu1506Ser)
c.4691T>C (p.Leu1564Ser)
7g.41964379A>TCA367314496GLI3c.4694T>A (p.Leu1565Ter)
c.4520T>A (p.Leu1507Ter)
n.4671T>A
c.4517T>A (p.Leu1506Ter)
c.4691T>A (p.Leu1564Ter)
7g.41964380A>CCA367314497GLI3c.4693T>G (p.Leu1565Val)
c.4519T>G (p.Leu1507Val)
n.4670T>G
c.4516T>G (p.Leu1506Val)
c.4690T>G (p.Leu1564Val)
7g.41964380A>GCA454656150GLI3c.4693T>C (p.Leu1565=)
c.4519T>C (p.Leu1507=)
n.4670T>C
c.4516T>C (p.Leu1506=)
c.4690T>C (p.Leu1564=)
7g.41964380A>TCA367314498GLI3c.4693T>A (p.Leu1565Met)
c.4519T>A (p.Leu1507Met)
n.4670T>A
c.4516T>A (p.Leu1506Met)
c.4690T>A (p.Leu1564Met)
7g.41964381A>CCA454656153GLI3c.4692T>G (p.Ser1564=)
c.4518T>G (p.Ser1506=)
n.4669T>G
c.4515T>G (p.Ser1505=)
c.4689T>G (p.Ser1563=)
7g.41964381A>GCA454656152GLI3c.4692T>C (p.Ser1564=)
c.4518T>C (p.Ser1506=)
n.4669T>C
c.4515T>C (p.Ser1505=)
c.4689T>C (p.Ser1563=)
7g.41964381A>TCA454656151GLI3c.4692T>A (p.Ser1564=)
c.4518T>A (p.Ser1506=)
n.4669T>A
c.4515T>A (p.Ser1505=)
c.4689T>A (p.Ser1563=)
7g.41964382G>ACA367314499GLI3c.4691C>T (p.Ser1564Phe)
c.4517C>T (p.Ser1506Phe)
n.4668C>T
c.4514C>T (p.Ser1505Phe)
c.4688C>T (p.Ser1563Phe)
7g.41964382G>CCA367314500GLI3c.4691C>G (p.Ser1564Cys)
c.4517C>G (p.Ser1506Cys)
n.4668C>G
c.4514C>G (p.Ser1505Cys)
c.4688C>G (p.Ser1563Cys)
7g.41964382G>TCA367314501GLI3c.4691C>A (p.Ser1564Tyr)
c.4517C>A (p.Ser1506Tyr)
n.4668C>A
c.4514C>A (p.Ser1505Tyr)
c.4688C>A (p.Ser1563Tyr)
 COSMIC
7g.41964383A>CCA367314502GLI3c.4690T>G (p.Ser1564Ala)
c.4516T>G (p.Ser1506Ala)
n.4667T>G
c.4513T>G (p.Ser1505Ala)
c.4687T>G (p.Ser1563Ala)
7g.41964383A>GCA367314503GLI3c.4690T>C (p.Ser1564Pro)
c.4516T>C (p.Ser1506Pro)
n.4667T>C
c.4513T>C (p.Ser1505Pro)
c.4687T>C (p.Ser1563Pro)
7g.41964383A>TCA367314504GLI3c.4690T>A (p.Ser1564Thr)
c.4516T>A (p.Ser1506Thr)
n.4667T>A
c.4513T>A (p.Ser1505Thr)
c.4687T>A (p.Ser1563Thr)
7g.41964384A>CCA367314505GLI3c.4689T>G (p.Ser1563Arg)
c.4515T>G (p.Ser1505Arg)
n.4666T>G
c.4512T>G (p.Ser1504Arg)
c.4686T>G (p.Ser1562Arg)
7g.41964384A>GCA454656154GLI3c.4689T>C (p.Ser1563=)
c.4515T>C (p.Ser1505=)
n.4666T>C
c.4512T>C (p.Ser1504=)
c.4686T>C (p.Ser1562=)
7g.41964384A>TCA367314506GLI3c.4689T>A (p.Ser1563Arg)
c.4515T>A (p.Ser1505Arg)
n.4666T>A
c.4512T>A (p.Ser1504Arg)
c.4686T>A (p.Ser1562Arg)
7g.41964385C>ACA367314508GLI3c.4688G>T (p.Ser1563Ile)
c.4514G>T (p.Ser1505Ile)
n.4665G>T
c.4511G>T (p.Ser1504Ile)
c.4685G>T (p.Ser1562Ile)
7g.41964385C=CA1702660234GLI3c.4688G= (p.Ser1563=)
c.4514G= (p.Ser1505=)
n.4665G=
c.4511G= (p.Ser1504=)
c.4685G= (p.Ser1562=)
7g.41964385C>GCA367314507GLI3c.4688G>C (p.Ser1563Thr)
c.4514G>C (p.Ser1505Thr)
n.4665G>C
c.4511G>C (p.Ser1504Thr)
c.4685G>C (p.Ser1562Thr)
7g.41964385C>TCA4230071GLI3c.4688G>A (p.Ser1563Asn)
c.4514G>A (p.Ser1505Asn)
n.4665G>A
c.4511G>A (p.Ser1504Asn)
c.4685G>A (p.Ser1562Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41964386T>ACA367314509GLI3c.4687A>T (p.Ser1563Cys)
c.4513A>T (p.Ser1505Cys)
n.4664A>T
c.4510A>T (p.Ser1504Cys)
c.4684A>T (p.Ser1562Cys)
7g.41964386T>CCA367314510GLI3c.4687A>G (p.Ser1563Gly)
c.4513A>G (p.Ser1505Gly)
n.4664A>G
c.4510A>G (p.Ser1504Gly)
c.4684A>G (p.Ser1562Gly)
7g.41964386T>GCA4230072GLI3c.4687A>C (p.Ser1563Arg)
c.4513A>C (p.Ser1505Arg)
n.4664A>C
c.4510A>C (p.Ser1504Arg)
c.4684A>C (p.Ser1562Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41964386T=CA1702660235GLI3c.4687A= (p.Ser1563=)
c.4513A= (p.Ser1505=)
n.4664A=
c.4510A= (p.Ser1504=)
c.4684A= (p.Ser1562=)
7g.41964387C>ACA367314511GLI3c.4686G>T (p.Met1562Ile)
c.4512G>T (p.Met1504Ile)
n.4663G>T
c.4509G>T (p.Met1503Ile)
c.4683G>T (p.Met1561Ile)
7g.41964387C>GCA367314512GLI3c.4686G>C (p.Met1562Ile)
c.4512G>C (p.Met1504Ile)
n.4663G>C
c.4509G>C (p.Met1503Ile)
c.4683G>C (p.Met1561Ile)
7g.41964387C>TCA367314513GLI3c.4686G>A (p.Met1562Ile)
c.4512G>A (p.Met1504Ile)
n.4663G>A
c.4509G>A (p.Met1503Ile)
c.4683G>A (p.Met1561Ile)
7g.41964388A>CCA367314514GLI3c.4685T>G (p.Met1562Arg)
c.4511T>G (p.Met1504Arg)
n.4662T>G
c.4508T>G (p.Met1503Arg)
c.4682T>G (p.Met1561Arg)
7g.41964388A>GCA367314515GLI3c.4685T>C (p.Met1562Thr)
c.4511T>C (p.Met1504Thr)
n.4662T>C
c.4508T>C (p.Met1503Thr)
c.4682T>C (p.Met1561Thr)
7g.41964388A>TCA367314516GLI3c.4685T>A (p.Met1562Lys)
c.4511T>A (p.Met1504Lys)
n.4662T>A
c.4508T>A (p.Met1503Lys)
c.4682T>A (p.Met1561Lys)
7g.41964389T>ACA367314517GLI3c.4684A>T (p.Met1562Leu)
c.4510A>T (p.Met1504Leu)
n.4661A>T
c.4507A>T (p.Met1503Leu)
c.4681A>T (p.Met1561Leu)
 gnomAD v4
7g.41964389T>CCA367314518GLI3c.4684A>G (p.Met1562Val)
c.4510A>G (p.Met1504Val)
n.4661A>G
c.4507A>G (p.Met1503Val)
c.4681A>G (p.Met1561Val)
7g.41964389T>GCA367314519GLI3c.4684A>C (p.Met1562Leu)
c.4510A>C (p.Met1504Leu)
n.4661A>C
c.4507A>C (p.Met1503Leu)
c.4681A>C (p.Met1561Leu)
7g.41964390G>ACA454656155GLI3c.4683C>T (p.Asp1561=)
c.4509C>T (p.Asp1503=)
n.4660C>T
c.4506C>T (p.Asp1502=)
c.4680C>T (p.Asp1560=)
7g.41964390G>CCA367314520GLI3c.4683C>G (p.Asp1561Glu)
c.4509C>G (p.Asp1503Glu)
n.4660C>G
c.4506C>G (p.Asp1502Glu)
c.4680C>G (p.Asp1560Glu)
 ClinVar
7g.41964390G>TCA367314521GLI3c.4683C>A (p.Asp1561Glu)
c.4509C>A (p.Asp1503Glu)
n.4660C>A
c.4506C>A (p.Asp1502Glu)
c.4680C>A (p.Asp1560Glu)
7g.41964391T>ACA367314522GLI3c.4682A>T (p.Asp1561Val)
c.4508A>T (p.Asp1503Val)
n.4659A>T
c.4505A>T (p.Asp1502Val)
c.4679A>T (p.Asp1560Val)
7g.41964391T>CCA367314523GLI3c.4682A>G (p.Asp1561Gly)
c.4508A>G (p.Asp1503Gly)
n.4659A>G
c.4505A>G (p.Asp1502Gly)
c.4679A>G (p.Asp1560Gly)
 ClinVar dbSNP gnomAD v4
7g.41964391T>GCA367314524GLI3c.4682A>C (p.Asp1561Ala)
c.4508A>C (p.Asp1503Ala)
n.4659A>C
c.4505A>C (p.Asp1502Ala)
c.4679A>C (p.Asp1560Ala)
7g.41964392C>ACA367314525GLI3c.4681G>T (p.Asp1561Tyr)
c.4507G>T (p.Asp1503Tyr)
n.4658G>T
c.4504G>T (p.Asp1502Tyr)
c.4678G>T (p.Asp1560Tyr)
7g.41964392C>GCA367314526GLI3c.4681G>C (p.Asp1561His)
c.4507G>C (p.Asp1503His)
n.4658G>C
c.4504G>C (p.Asp1502His)
c.4678G>C (p.Asp1560His)
7g.41964392C>TCA367314527GLI3c.4681G>A (p.Asp1561Asn)
c.4507G>A (p.Asp1503Asn)
n.4658G>A
c.4504G>A (p.Asp1502Asn)
c.4678G>A (p.Asp1560Asn)
7g.41964393C>ACA454656156GLI3c.4680G>T (p.Gly1560=)
c.4506G>T (p.Gly1502=)
n.4657G>T
c.4503G>T (p.Gly1501=)
c.4677G>T (p.Gly1559=)
7g.41964393C=CA1702660236GLI3c.4680G= (p.Gly1560=)
c.4506G= (p.Gly1502=)
n.4657G=
c.4503G= (p.Gly1501=)
c.4677G= (p.Gly1559=)
7g.41964393C>GCA454656157GLI3c.4680G>C (p.Gly1560=)
c.4506G>C (p.Gly1502=)
n.4657G>C
c.4503G>C (p.Gly1501=)
c.4677G>C (p.Gly1559=)
7g.41964393C>TCA4230073GLI3c.4680G>A (p.Gly1560=)
c.4506G>A (p.Gly1502=)
n.4657G>A
c.4503G>A (p.Gly1501=)
c.4677G>A (p.Gly1559=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41964394C>ACA367314528GLI3c.4679G>T (p.Gly1560Val)
c.4505G>T (p.Gly1502Val)
n.4656G>T
c.4502G>T (p.Gly1501Val)
c.4676G>T (p.Gly1559Val)
7g.41964394C>GCA367314530GLI3c.4679G>C (p.Gly1560Ala)
c.4505G>C (p.Gly1502Ala)
n.4656G>C
c.4502G>C (p.Gly1501Ala)
c.4676G>C (p.Gly1559Ala)
 gnomAD v4
7g.41964394C>TCA367314529GLI3c.4679G>A (p.Gly1560Glu)
c.4505G>A (p.Gly1502Glu)
n.4656G>A
c.4502G>A (p.Gly1501Glu)
c.4676G>A (p.Gly1559Glu)
 COSMIC
7g.41964394_41964395delinsTTCA645566061GLI3c.4678_4679delinsAA (p.Gly1560Lys)
c.4504_4505delinsAA (p.Gly1502Lys)
n.4655_4656delinsAA
c.4501_4502delinsAA (p.Gly1501Lys)
c.4675_4676delinsAA (p.Gly1559Lys)
 COSMIC
7g.41964395C>ACA367314531GLI3c.4678G>T (p.Gly1560Trp)
c.4504G>T (p.Gly1502Trp)
n.4655G>T
c.4501G>T (p.Gly1501Trp)
c.4675G>T (p.Gly1559Trp)
 gnomAD v4
7g.41964395C=CA1702660237GLI3c.4678G= (p.Gly1560=)
c.4504G= (p.Gly1502=)
n.4655G=
c.4501G= (p.Gly1501=)
c.4675G= (p.Gly1559=)
7g.41964395C>GCA367314532GLI3c.4678G>C (p.Gly1560Arg)
c.4504G>C (p.Gly1502Arg)
n.4655G>C
c.4501G>C (p.Gly1501Arg)
c.4675G>C (p.Gly1559Arg)
 gnomAD v4
7g.41964395C>TCA4230074GLI3c.4678G>A (p.Gly1560Arg)
c.4504G>A (p.Gly1502Arg)
n.4655G>A
c.4501G>A (p.Gly1501Arg)
c.4675G>A (p.Gly1559Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.41964396G>ACA454656158GLI3c.4677C>T (p.Ile1559=)
c.4503C>T (p.Ile1501=)
n.4654C>T
c.4500C>T (p.Ile1500=)
c.4674C>T (p.Ile1558=)
 dbSNP gnomAD v2 gnomAD v4
7g.41964396G>CCA367314533GLI3c.4677C>G (p.Ile1559Met)
c.4503C>G (p.Ile1501Met)
n.4654C>G
c.4500C>G (p.Ile1500Met)
c.4674C>G (p.Ile1558Met)
 dbSNP gnomAD v4
7g.41964396G=CA1702660238GLI3c.4677C= (p.Ile1559=)
c.4503C= (p.Ile1501=)
n.4654C=
c.4500C= (p.Ile1500=)
c.4674C= (p.Ile1558=)
7g.41964396G>TCA454656159GLI3c.4677C>A (p.Ile1559=)
c.4503C>A (p.Ile1501=)
n.4654C>A
c.4500C>A (p.Ile1500=)
c.4674C>A (p.Ile1558=)
 ClinVar
7g.41964396dupCA2695207605GLI3c.4677dup (p.Gly1560ArgfsTer?)
c.4503dup (p.Gly1502ArgfsTer?)
n.4654dup
c.4500dup (p.Gly1501ArgfsTer?)
c.4674dup (p.Gly1559ArgfsTer?)
7g.41964397A>CCA367314534GLI3c.4676T>G (p.Ile1559Ser)
c.4502T>G (p.Ile1501Ser)
n.4653T>G
c.4499T>G (p.Ile1500Ser)
c.4673T>G (p.Ile1558Ser)
7g.41964397A>GCA367314536GLI3c.4676T>C (p.Ile1559Thr)
c.4502T>C (p.Ile1501Thr)
n.4653T>C
c.4499T>C (p.Ile1500Thr)
c.4673T>C (p.Ile1558Thr)
 ClinVar dbSNP gnomAD v4
7g.41964397A>TCA367314535GLI3c.4676T>A (p.Ile1559Asn)
c.4502T>A (p.Ile1501Asn)
n.4653T>A
c.4499T>A (p.Ile1500Asn)
c.4673T>A (p.Ile1558Asn)
7g.41964398T>ACA367314537GLI3c.4675A>T (p.Ile1559Phe)
c.4501A>T (p.Ile1501Phe)
n.4652A>T
c.4498A>T (p.Ile1500Phe)
c.4672A>T (p.Ile1558Phe)
7g.41964398T>CCA367314538GLI3c.4675A>G (p.Ile1559Val)
c.4501A>G (p.Ile1501Val)
n.4652A>G
c.4498A>G (p.Ile1500Val)
c.4672A>G (p.Ile1558Val)
 ClinVar dbSNP gnomAD v4
7g.41964398T>GCA367314539GLI3c.4675A>C (p.Ile1559Leu)
c.4501A>C (p.Ile1501Leu)
n.4652A>C
c.4498A>C (p.Ile1500Leu)
c.4672A>C (p.Ile1558Leu)
7g.41964398T=CA1702660239GLI3c.4675A= (p.Ile1559=)
c.4501A= (p.Ile1501=)
n.4652A=
c.4498A= (p.Ile1500=)
c.4672A= (p.Ile1558=)
7g.41964399A>CCA454656160GLI3c.4674T>G (p.Ala1558=)
c.4500T>G (p.Ala1500=)
n.4651T>G
c.4497T>G (p.Ala1499=)
c.4671T>G (p.Ala1557=)
7g.41964399A>GCA454656161GLI3c.4674T>C (p.Ala1558=)
c.4500T>C (p.Ala1500=)
n.4651T>C
c.4497T>C (p.Ala1499=)
c.4671T>C (p.Ala1557=)
7g.41964399A>TCA454656162GLI3c.4674T>A (p.Ala1558=)
c.4500T>A (p.Ala1500=)
n.4651T>A
c.4497T>A (p.Ala1499=)
c.4671T>A (p.Ala1557=)
7g.41964400G>ACA367314540GLI3c.4673C>T (p.Ala1558Val)
c.4499C>T (p.Ala1500Val)
n.4650C>T
c.4496C>T (p.Ala1499Val)
c.4670C>T (p.Ala1557Val)
7g.41964400G>CCA367314541GLI3c.4673C>G (p.Ala1558Gly)
c.4499C>G (p.Ala1500Gly)
n.4650C>G
c.4496C>G (p.Ala1499Gly)
c.4670C>G (p.Ala1557Gly)
7g.41964400G>TCA367314542GLI3c.4673C>A (p.Ala1558Asp)
c.4499C>A (p.Ala1500Asp)
n.4650C>A
c.4496C>A (p.Ala1499Asp)
c.4670C>A (p.Ala1557Asp)
7g.41964401C>ACA367314543GLI3c.4672G>T (p.Ala1558Ser)
c.4498G>T (p.Ala1500Ser)
n.4649G>T
c.4495G>T (p.Ala1499Ser)
c.4669G>T (p.Ala1557Ser)
7g.41964401C>GCA367314544GLI3c.4672G>C (p.Ala1558Pro)
c.4498G>C (p.Ala1500Pro)
n.4649G>C
c.4495G>C (p.Ala1499Pro)
c.4669G>C (p.Ala1557Pro)
7g.41964401C>TCA367314545GLI3c.4672G>A (p.Ala1558Thr)
c.4498G>A (p.Ala1500Thr)
n.4649G>A
c.4495G>A (p.Ala1499Thr)
c.4669G>A (p.Ala1557Thr)
7g.41964402C>ACA367314546GLI3c.4671G>T (p.Met1557Ile)
c.4497G>T (p.Met1499Ile)
n.4648G>T
c.4494G>T (p.Met1498Ile)
c.4668G>T (p.Met1556Ile)
7g.41964402C=CA1702660240GLI3c.4671G= (p.Met1557=)
c.4497G= (p.Met1499=)
n.4648G=
c.4494G= (p.Met1498=)
c.4668G= (p.Met1556=)
7g.41964402C>GCA367314547GLI3c.4671G>C (p.Met1557Ile)
c.4497G>C (p.Met1499Ile)
n.4648G>C
c.4494G>C (p.Met1498Ile)
c.4668G>C (p.Met1556Ile)
7g.41964402C>TCA367314548GLI3c.4671G>A (p.Met1557Ile)
c.4497G>A (p.Met1499Ile)
n.4648G>A
c.4494G>A (p.Met1498Ile)
c.4668G>A (p.Met1556Ile)
 dbSNP
7g.41964403A>CCA367314550GLI3c.4670T>G (p.Met1557Arg)
c.4496T>G (p.Met1499Arg)
n.4647T>G
c.4493T>G (p.Met1498Arg)
c.4667T>G (p.Met1556Arg)
7g.41964403A>GCA367314551GLI3c.4670T>C (p.Met1557Thr)
c.4496T>C (p.Met1499Thr)
n.4647T>C
c.4493T>C (p.Met1498Thr)
c.4667T>C (p.Met1556Thr)
7g.41964403A>TCA367314549GLI3c.4670T>A (p.Met1557Lys)
c.4496T>A (p.Met1499Lys)
n.4647T>A
c.4493T>A (p.Met1498Lys)
c.4667T>A (p.Met1556Lys)
7g.41964404T>ACA367314552GLI3c.4669A>T (p.Met1557Leu)
c.4495A>T (p.Met1499Leu)
n.4646A>T
c.4492A>T (p.Met1498Leu)
c.4666A>T (p.Met1556Leu)
7g.41964404T>CCA156901463GLI3c.4669A>G (p.Met1557Val)
c.4495A>G (p.Met1499Val)
n.4646A>G
c.4492A>G (p.Met1498Val)
c.4666A>G (p.Met1556Val)
 dbSNP
7g.41964404T>GCA367314553GLI3c.4669A>C (p.Met1557Leu)
c.4495A>C (p.Met1499Leu)
n.4646A>C
c.4492A>C (p.Met1498Leu)
c.4666A>C (p.Met1556Leu)
7g.41964404T=CA1702660241GLI3c.4669A= (p.Met1557=)
c.4495A= (p.Met1499=)
n.4646A=
c.4492A= (p.Met1498=)
c.4666A= (p.Met1556=)
7g.41964405G>ACA454656163GLI3c.4668C>T (p.Asn1556=)
c.4494C>T (p.Asn1498=)
n.4645C>T
c.4491C>T (p.Asn1497=)
c.4665C>T (p.Asn1555=)
 dbSNP gnomAD v4
7g.41964405G>CCA367314554GLI3c.4668C>G (p.Asn1556Lys)
c.4494C>G (p.Asn1498Lys)
n.4645C>G
c.4491C>G (p.Asn1497Lys)
c.4665C>G (p.Asn1555Lys)
7g.41964405G=CA1702660242GLI3c.4668C= (p.Asn1556=)
c.4494C= (p.Asn1498=)
n.4645C=
c.4491C= (p.Asn1497=)
c.4665C= (p.Asn1555=)
7g.41964405G>TCA367314555GLI3c.4668C>A (p.Asn1556Lys)
c.4494C>A (p.Asn1498Lys)
n.4645C>A
c.4491C>A (p.Asn1497Lys)
c.4665C>A (p.Asn1555Lys)
7g.41964406T>ACA367314556GLI3c.4667A>T (p.Asn1556Ile)
c.4493A>T (p.Asn1498Ile)
n.4644A>T
c.4490A>T (p.Asn1497Ile)
c.4664A>T (p.Asn1555Ile)
7g.41964406T>CCA367314557GLI3c.4667A>G (p.Asn1556Ser)
c.4493A>G (p.Asn1498Ser)
n.4644A>G
c.4490A>G (p.Asn1497Ser)
c.4664A>G (p.Asn1555Ser)
7g.41964406T>GCA4230075GLI3c.4667A>C (p.Asn1556Thr)
c.4493A>C (p.Asn1498Thr)
n.4644A>C
c.4490A>C (p.Asn1497Thr)
c.4664A>C (p.Asn1555Thr)
 dbSNP ExAC gnomAD v2
7g.41964406T=CA1702660243GLI3c.4667A= (p.Asn1556=)
c.4493A= (p.Asn1498=)
n.4644A=
c.4490A= (p.Asn1497=)
c.4664A= (p.Asn1555=)
7g.41964407T>ACA367314558GLI3c.4666A>T (p.Asn1556Tyr)
c.4492A>T (p.Asn1498Tyr)
n.4643A>T
c.4489A>T (p.Asn1497Tyr)
c.4663A>T (p.Asn1555Tyr)
7g.41964407T>CCA367314559GLI3c.4666A>G (p.Asn1556Asp)
c.4492A>G (p.Asn1498Asp)
n.4643A>G
c.4489A>G (p.Asn1497Asp)
c.4663A>G (p.Asn1555Asp)
7g.41964407T>GCA367314560GLI3c.4666A>C (p.Asn1556His)
c.4492A>C (p.Asn1498His)
n.4643A>C
c.4489A>C (p.Asn1497His)
c.4663A>C (p.Asn1555His)
7g.41964407T=CA1702660244GLI3c.4666A= (p.Asn1556=)
c.4492A= (p.Asn1498=)
n.4643A=
c.4489A= (p.Asn1497=)
c.4663A= (p.Asn1555=)
7g.41964408G>ACA454656164GLI3c.4665C>T (p.Thr1555=)
c.4491C>T (p.Thr1497=)
n.4642C>T
c.4488C>T (p.Thr1496=)
c.4662C>T (p.Thr1554=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
7g.41964408G>CCA454656166GLI3c.4665C>G (p.Thr1555=)
c.4491C>G (p.Thr1497=)
n.4642C>G
c.4488C>G (p.Thr1496=)
c.4662C>G (p.Thr1554=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41964408G=CA1702660245GLI3c.4665C= (p.Thr1555=)
c.4491C= (p.Thr1497=)
n.4642C=
c.4488C= (p.Thr1496=)
c.4662C= (p.Thr1554=)
7g.41964408G>TCA454656165GLI3c.4665C>A (p.Thr1555=)
c.4491C>A (p.Thr1497=)
n.4642C>A
c.4488C>A (p.Thr1496=)
c.4662C>A (p.Thr1554=)
7g.41964409dupCA16618459GLI3c.4665dup (p.Asn1556GlnfsTer?)
c.4491dup (p.Asn1498GlnfsTer?)
n.4642dup
c.4488dup (p.Asn1497GlnfsTer?)
c.4662dup (p.Asn1555GlnfsTer?)
 ClinVar dbSNP
7g.41964409G>ACA4230076GLI3c.4664C>T (p.Thr1555Ile)
c.4490C>T (p.Thr1497Ile)
n.4641C>T
c.4487C>T (p.Thr1496Ile)
c.4661C>T (p.Thr1554Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41964409G>CCA367314561GLI3c.4664C>G (p.Thr1555Ser)
c.4490C>G (p.Thr1497Ser)
n.4641C>G
c.4487C>G (p.Thr1496Ser)
c.4661C>G (p.Thr1554Ser)
7g.41964409G=CA1702660246GLI3c.4664C= (p.Thr1555=)
c.4490C= (p.Thr1497=)
n.4641C=
c.4487C= (p.Thr1496=)
c.4661C= (p.Thr1554=)
7g.41964409G>TCA367314562GLI3c.4664C>A (p.Thr1555Asn)
c.4490C>A (p.Thr1497Asn)
n.4641C>A
c.4487C>A (p.Thr1496Asn)
c.4661C>A (p.Thr1554Asn)
7g.41964410T>ACA367314563GLI3c.4663A>T (p.Thr1555Ser)
c.4489A>T (p.Thr1497Ser)
n.4640A>T
c.4486A>T (p.Thr1496Ser)
c.4660A>T (p.Thr1554Ser)
7g.41964410T>CCA367314564GLI3c.4663A>G (p.Thr1555Ala)
c.4489A>G (p.Thr1497Ala)
n.4640A>G
c.4486A>G (p.Thr1496Ala)
c.4660A>G (p.Thr1554Ala)
 dbSNP gnomAD v2 gnomAD v4
7g.41964410T>GCA367314565GLI3c.4663A>C (p.Thr1555Pro)
c.4489A>C (p.Thr1497Pro)
n.4640A>C
c.4486A>C (p.Thr1496Pro)
c.4660A>C (p.Thr1554Pro)
7g.41964410T=CA1702660247GLI3c.4663A= (p.Thr1555=)
c.4489A= (p.Thr1497=)
n.4640A=
c.4486A= (p.Thr1496=)
c.4660A= (p.Thr1554=)
7g.41964411G>ACA454656167GLI3c.4662C>T (p.Thr1554=)
c.4488C>T (p.Thr1496=)
n.4639C>T
c.4485C>T (p.Thr1495=)
c.4659C>T (p.Thr1553=)
 gnomAD v4
7g.41964411G>CCA454656168GLI3c.4662C>G (p.Thr1554=)
c.4488C>G (p.Thr1496=)
n.4639C>G
c.4485C>G (p.Thr1495=)
c.4659C>G (p.Thr1553=)
7g.41964411G>TCA454656169GLI3c.4662C>A (p.Thr1554=)
c.4488C>A (p.Thr1496=)
n.4639C>A
c.4485C>A (p.Thr1495=)
c.4659C>A (p.Thr1553=)
 gnomAD v4
7g.41964412G>ACA4230078GLI3c.4661C>T (p.Thr1554Ile)
c.4487C>T (p.Thr1496Ile)
n.4638C>T
c.4484C>T (p.Thr1495Ile)
c.4658C>T (p.Thr1553Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41964412G>CCA4230077GLI3c.4661C>G (p.Thr1554Ser)
c.4487C>G (p.Thr1496Ser)
n.4638C>G
c.4484C>G (p.Thr1495Ser)
c.4658C>G (p.Thr1553Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41964412G=CA1702660248GLI3c.4661C= (p.Thr1554=)
c.4487C= (p.Thr1496=)
n.4638C=
c.4484C= (p.Thr1495=)
c.4658C= (p.Thr1553=)
7g.41964412G>TCA367314566GLI3c.4661C>A (p.Thr1554Asn)
c.4487C>A (p.Thr1496Asn)
n.4638C>A
c.4484C>A (p.Thr1495Asn)
c.4658C>A (p.Thr1553Asn)
 gnomAD v4
7g.41964413T>ACA367314567GLI3c.4660A>T (p.Thr1554Ser)
c.4486A>T (p.Thr1496Ser)
n.4637A>T
c.4483A>T (p.Thr1495Ser)
c.4657A>T (p.Thr1553Ser)
7g.41964413T>CCA367314569GLI3c.4660A>G (p.Thr1554Ala)
c.4486A>G (p.Thr1496Ala)
n.4637A>G
c.4483A>G (p.Thr1495Ala)
c.4657A>G (p.Thr1553Ala)
 dbSNP gnomAD v3 gnomAD v4
7g.41964413T>GCA367314568GLI3c.4660A>C (p.Thr1554Pro)
c.4486A>C (p.Thr1496Pro)
n.4637A>C
c.4483A>C (p.Thr1495Pro)
c.4657A>C (p.Thr1553Pro)
 dbSNP gnomAD v3 gnomAD v4
7g.41964413T=CA1702660249GLI3c.4660A= (p.Thr1554=)
c.4486A= (p.Thr1496=)
n.4637A=
c.4483A= (p.Thr1495=)
c.4657A= (p.Thr1553=)
7g.41964414delCA2695207606GLI3c.4659del (p.Ser1553ArgfsTer10)
c.4485del (p.Ser1495ArgfsTer10)
n.4636del
c.4482del (p.Ser1494ArgfsTer10)
c.4656del (p.Ser1552ArgfsTer10)
7g.41964414G>ACA4230079GLI3c.4659C>T (p.Ser1553=)
c.4485C>T (p.Ser1495=)
n.4636C>T
c.4482C>T (p.Ser1494=)
c.4656C>T (p.Ser1552=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41964414G>CCA367314570GLI3c.4659C>G (p.Ser1553Arg)
c.4485C>G (p.Ser1495Arg)
n.4636C>G
c.4482C>G (p.Ser1494Arg)
c.4656C>G (p.Ser1552Arg)
7g.41964414G=CA1702660250GLI3c.4659C= (p.Ser1553=)
c.4485C= (p.Ser1495=)
n.4636C=
c.4482C= (p.Ser1494=)
c.4656C= (p.Ser1552=)
7g.41964414G>TCA367314571GLI3c.4659C>A (p.Ser1553Arg)
c.4485C>A (p.Ser1495Arg)
n.4636C>A
c.4482C>A (p.Ser1494Arg)
c.4656C>A (p.Ser1552Arg)
7g.41964415C>ACA367314572GLI3c.4658G>T (p.Ser1553Ile)
c.4484G>T (p.Ser1495Ile)
n.4635G>T
c.4481G>T (p.Ser1494Ile)
c.4655G>T (p.Ser1552Ile)
7g.41964415C>GCA367314573GLI3c.4658G>C (p.Ser1553Thr)
c.4484G>C (p.Ser1495Thr)
n.4635G>C
c.4481G>C (p.Ser1494Thr)
c.4655G>C (p.Ser1552Thr)
7g.41964415C>TCA367314574GLI3c.4658G>A (p.Ser1553Asn)
c.4484G>A (p.Ser1495Asn)
n.4635G>A
c.4481G>A (p.Ser1494Asn)
c.4655G>A (p.Ser1552Asn)
7g.41964416T>ACA367314575GLI3c.4657A>T (p.Ser1553Cys)
c.4483A>T (p.Ser1495Cys)
n.4634A>T
c.4480A>T (p.Ser1494Cys)
c.4654A>T (p.Ser1552Cys)
7g.41964416T>CCA367314576GLI3c.4657A>G (p.Ser1553Gly)
c.4483A>G (p.Ser1495Gly)
n.4634A>G
c.4480A>G (p.Ser1494Gly)
c.4654A>G (p.Ser1552Gly)
7g.41964416T>GCA367314577GLI3c.4657A>C (p.Ser1553Arg)
c.4483A>C (p.Ser1495Arg)
n.4634A>C
c.4480A>C (p.Ser1494Arg)
c.4654A>C (p.Ser1552Arg)
7g.41964417C>ACA367314579GLI3c.4656G>T (p.Met1552Ile)
c.4482G>T (p.Met1494Ile)
n.4633G>T
c.4479G>T (p.Met1493Ile)
c.4653G>T (p.Met1551Ile)
 gnomAD v4
7g.41964417C=CA1702660251GLI3c.4656G= (p.Met1552=)
c.4482G= (p.Met1494=)
n.4633G=
c.4479G= (p.Met1493=)
c.4653G= (p.Met1551=)
7g.41964417C>GCA367314580GLI3c.4656G>C (p.Met1552Ile)
c.4482G>C (p.Met1494Ile)
n.4633G>C
c.4479G>C (p.Met1493Ile)
c.4653G>C (p.Met1551Ile)
7g.41964417C>TCA367314578GLI3c.4656G>A (p.Met1552Ile)
c.4482G>A (p.Met1494Ile)
n.4633G>A
c.4479G>A (p.Met1493Ile)
c.4653G>A (p.Met1551Ile)
 dbSNP gnomAD v2 gnomAD v4
7g.41964418A>CCA367314581GLI3c.4655T>G (p.Met1552Arg)
c.4481T>G (p.Met1494Arg)
n.4632T>G
c.4478T>G (p.Met1493Arg)
c.4652T>G (p.Met1551Arg)
 gnomAD v4
7g.41964418A>GCA367314582GLI3c.4655T>C (p.Met1552Thr)
c.4481T>C (p.Met1494Thr)
n.4632T>C
c.4478T>C (p.Met1493Thr)
c.4652T>C (p.Met1551Thr)
 dbSNP
7g.41964418A>TCA367314583GLI3c.4655T>A (p.Met1552Lys)
c.4481T>A (p.Met1494Lys)
n.4632T>A
c.4478T>A (p.Met1493Lys)
c.4652T>A (p.Met1551Lys)
7g.41964419T>ACA367314584GLI3c.4654A>T (p.Met1552Leu)
c.4480A>T (p.Met1494Leu)
n.4631A>T
c.4477A>T (p.Met1493Leu)
c.4651A>T (p.Met1551Leu)
 gnomAD v4
7g.41964419T>CCA367314585GLI3c.4654A>G (p.Met1552Val)
c.4480A>G (p.Met1494Val)
n.4631A>G
c.4477A>G (p.Met1493Val)
c.4651A>G (p.Met1551Val)
 dbSNP gnomAD v2 gnomAD v4
7g.41964419T>GCA4230080GLI3c.4654A>C (p.Met1552Leu)
c.4480A>C (p.Met1494Leu)
n.4631A>C
c.4477A>C (p.Met1493Leu)
c.4651A>C (p.Met1551Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41964419T=CA1702660252GLI3c.4654A= (p.Met1552=)
c.4480A= (p.Met1494=)
n.4631A=
c.4477A= (p.Met1493=)
c.4651A= (p.Met1551=)
7g.41964420G>ACA454656170GLI3c.4653C>T (p.Ser1551=)
c.4479C>T (p.Ser1493=)
n.4630C>T
c.4476C>T (p.Ser1492=)
c.4650C>T (p.Ser1550=)
7g.41964420G>CCA454656171GLI3c.4653C>G (p.Ser1551=)
c.4479C>G (p.Ser1493=)
n.4630C>G
c.4476C>G (p.Ser1492=)
c.4650C>G (p.Ser1550=)
7g.41964420G=CA1702660253GLI3c.4653C= (p.Ser1551=)
c.4479C= (p.Ser1493=)
n.4630C=
c.4476C= (p.Ser1492=)
c.4650C= (p.Ser1550=)
7g.41964420G>TCA4230081GLI3c.4653C>A (p.Ser1551=)
c.4479C>A (p.Ser1493=)
n.4630C>A
c.4476C>A (p.Ser1492=)
c.4650C>A (p.Ser1550=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41964421G>ACA367314586GLI3c.4652C>T (p.Ser1551Phe)
c.4478C>T (p.Ser1493Phe)
n.4629C>T
c.4475C>T (p.Ser1492Phe)
c.4649C>T (p.Ser1550Phe)
7g.41964421G>CCA156901538GLI3c.4652C>G (p.Ser1551Cys)
c.4478C>G (p.Ser1493Cys)
n.4629C>G
c.4475C>G (p.Ser1492Cys)
c.4649C>G (p.Ser1550Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41964421G=CA1702660254GLI3c.4652C= (p.Ser1551=)
c.4478C= (p.Ser1493=)
n.4629C=
c.4475C= (p.Ser1492=)
c.4649C= (p.Ser1550=)
7g.41964421G>TCA367314587GLI3c.4652C>A (p.Ser1551Tyr)
c.4478C>A (p.Ser1493Tyr)
n.4629C>A
c.4475C>A (p.Ser1492Tyr)
c.4649C>A (p.Ser1550Tyr)
7g.41964422A>CCA367314588GLI3c.4651T>G (p.Ser1551Ala)
c.4477T>G (p.Ser1493Ala)
n.4628T>G
c.4474T>G (p.Ser1492Ala)
c.4648T>G (p.Ser1550Ala)
 gnomAD v4
7g.41964422A>GCA367314589GLI3c.4651T>C (p.Ser1551Pro)
c.4477T>C (p.Ser1493Pro)
n.4628T>C
c.4474T>C (p.Ser1492Pro)
c.4648T>C (p.Ser1550Pro)
7g.41964422A>TCA367314590GLI3c.4651T>A (p.Ser1551Thr)
c.4477T>A (p.Ser1493Thr)
n.4628T>A
c.4474T>A (p.Ser1492Thr)
c.4648T>A (p.Ser1550Thr)
7g.41964423C>ACA454656172GLI3c.4650G>T (p.Leu1550=)
c.4476G>T (p.Leu1492=)
n.4627G>T
c.4473G>T (p.Leu1491=)
c.4647G>T (p.Leu1549=)
7g.41964423C=CA1702660255GLI3c.4650G= (p.Leu1550=)
c.4476G= (p.Leu1492=)
n.4627G=
c.4473G= (p.Leu1491=)
c.4647G= (p.Leu1549=)
7g.41964423C>GCA454656173GLI3c.4650G>C (p.Leu1550=)
c.4476G>C (p.Leu1492=)
n.4627G>C
c.4473G>C (p.Leu1491=)
c.4647G>C (p.Leu1549=)
7g.41964423C>TCA454656174GLI3c.4650G>A (p.Leu1550=)
c.4476G>A (p.Leu1492=)
n.4627G>A
c.4473G>A (p.Leu1491=)
c.4647G>A (p.Leu1549=)
 dbSNP gnomAD v4
7g.41964424A=CA1702660256GLI3c.4649T= (p.Leu1550=)
c.4475T= (p.Leu1492=)
n.4626T=
c.4472T= (p.Leu1491=)
c.4646T= (p.Leu1549=)
7g.41964424A>CCA367314592GLI3c.4649T>G (p.Leu1550Arg)
c.4475T>G (p.Leu1492Arg)
n.4626T>G
c.4472T>G (p.Leu1491Arg)
c.4646T>G (p.Leu1549Arg)
7g.41964424A>GCA4230082GLI3c.4649T>C (p.Leu1550Pro)
c.4475T>C (p.Leu1492Pro)
n.4626T>C
c.4472T>C (p.Leu1491Pro)
c.4646T>C (p.Leu1549Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41964424A>TCA367314591GLI3c.4649T>A (p.Leu1550Gln)
c.4475T>A (p.Leu1492Gln)
n.4626T>A
c.4472T>A (p.Leu1491Gln)
c.4646T>A (p.Leu1549Gln)
7g.41964425G>ACA4230083GLI3c.4648C>T (p.Leu1550=)
c.4474C>T (p.Leu1492=)
n.4625C>T
c.4471C>T (p.Leu1491=)
c.4645C>T (p.Leu1549=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.41964425G>CCA367314593GLI3c.4648C>G (p.Leu1550Val)
c.4474C>G (p.Leu1492Val)
n.4625C>G
c.4471C>G (p.Leu1491Val)
c.4645C>G (p.Leu1549Val)
 dbSNP gnomAD v2 gnomAD v4
7g.41964425G=CA1702660257GLI3c.4648C= (p.Leu1550=)
c.4474C= (p.Leu1492=)
n.4625C=
c.4471C= (p.Leu1491=)
c.4645C= (p.Leu1549=)
7g.41964425G>TCA367314594GLI3c.4648C>A (p.Leu1550Met)
c.4474C>A (p.Leu1492Met)
n.4625C>A
c.4471C>A (p.Leu1491Met)
c.4645C>A (p.Leu1549Met)
 gnomAD v4
7g.41964426C>ACA156901542GLI3c.4647G>T (p.Ala1549=)
c.4473G>T (p.Ala1491=)
n.4624G>T
c.4470G>T (p.Ala1490=)
c.4644G>T (p.Ala1548=)
 dbSNP
7g.41964426C=CA1702660258GLI3c.4647G= (p.Ala1549=)
c.4473G= (p.Ala1491=)
n.4624G=
c.4470G= (p.Ala1490=)
c.4644G= (p.Ala1548=)
7g.41964426C>GCA454656175GLI3c.4647G>C (p.Ala1549=)
c.4473G>C (p.Ala1491=)
n.4624G>C
c.4470G>C (p.Ala1490=)
c.4644G>C (p.Ala1548=)
7g.41964426C>TCA454656176GLI3c.4647G>A (p.Ala1549=)
c.4473G>A (p.Ala1491=)
n.4624G>A
c.4470G>A (p.Ala1490=)
c.4644G>A (p.Ala1548=)
 gnomAD v4 COSMIC
7g.41964427G>ACA367314595GLI3c.4646C>T (p.Ala1549Val)
c.4472C>T (p.Ala1491Val)
n.4623C>T
c.4469C>T (p.Ala1490Val)
c.4643C>T (p.Ala1548Val)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.41964427G>CCA367314596GLI3c.4646C>G (p.Ala1549Gly)
c.4472C>G (p.Ala1491Gly)
n.4623C>G
c.4469C>G (p.Ala1490Gly)
c.4643C>G (p.Ala1548Gly)
7g.41964427G=CA1702660259GLI3c.4646C= (p.Ala1549=)
c.4472C= (p.Ala1491=)
n.4623C=
c.4469C= (p.Ala1490=)
c.4643C= (p.Ala1548=)
7g.41964427G>TCA367314597GLI3c.4646C>A (p.Ala1549Glu)
c.4472C>A (p.Ala1491Glu)
n.4623C>A
c.4469C>A (p.Ala1490Glu)
c.4643C>A (p.Ala1548Glu)
 gnomAD v4
7g.41964428C>ACA367314598GLI3c.4645G>T (p.Ala1549Ser)
c.4471G>T (p.Ala1491Ser)
n.4622G>T
c.4468G>T (p.Ala1490Ser)
c.4642G>T (p.Ala1548Ser)
7g.41964428C>GCA367314599GLI3c.4645G>C (p.Ala1549Pro)
c.4471G>C (p.Ala1491Pro)
n.4622G>C
c.4468G>C (p.Ala1490Pro)
c.4642G>C (p.Ala1548Pro)
7g.41964428C>TCA367314600GLI3c.4645G>A (p.Ala1549Thr)
c.4471G>A (p.Ala1491Thr)
n.4622G>A
c.4468G>A (p.Ala1490Thr)
c.4642G>A (p.Ala1548Thr)
7g.41964429T>ACA454656177GLI3c.4644A>T (p.Pro1548=)
c.4470A>T (p.Pro1490=)
n.4621A>T
c.4467A>T (p.Pro1489=)
c.4641A>T (p.Pro1547=)
7g.41964429T>CCA454656178GLI3c.4644A>G (p.Pro1548=)
c.4470A>G (p.Pro1490=)
n.4621A>G
c.4467A>G (p.Pro1489=)
c.4641A>G (p.Pro1547=)
 gnomAD v4
7g.41964429T>GCA454656179GLI3c.4644A>C (p.Pro1548=)
c.4470A>C (p.Pro1490=)
n.4621A>C
c.4467A>C (p.Pro1489=)
c.4641A>C (p.Pro1547=)
 gnomAD v4
7g.41964430G>ACA367314601GLI3c.4643C>T (p.Pro1548Leu)
c.4469C>T (p.Pro1490Leu)
n.4620C>T
c.4466C>T (p.Pro1489Leu)
c.4640C>T (p.Pro1547Leu)
7g.41964430G>CCA367314602GLI3c.4643C>G (p.Pro1548Arg)
c.4469C>G (p.Pro1490Arg)
n.4620C>G
c.4466C>G (p.Pro1489Arg)
c.4640C>G (p.Pro1547Arg)
7g.41964430G>TCA367314603GLI3c.4643C>A (p.Pro1548Gln)
c.4469C>A (p.Pro1490Gln)
n.4620C>A
c.4466C>A (p.Pro1489Gln)
c.4640C>A (p.Pro1547Gln)
7g.41964431G>ACA367314606GLI3c.4642C>T (p.Pro1548Ser)
c.4468C>T (p.Pro1490Ser)
n.4619C>T
c.4465C>T (p.Pro1489Ser)
c.4639C>T (p.Pro1547Ser)
 ClinVar
7g.41964431G>CCA367314605GLI3c.4642C>G (p.Pro1548Ala)
c.4468C>G (p.Pro1490Ala)
n.4619C>G
c.4465C>G (p.Pro1489Ala)
c.4639C>G (p.Pro1547Ala)
 gnomAD v4
7g.41964431G>TCA367314604GLI3c.4642C>A (p.Pro1548Thr)
c.4468C>A (p.Pro1490Thr)
n.4619C>A
c.4465C>A (p.Pro1489Thr)
c.4639C>A (p.Pro1547Thr)
7g.41964432G>ACA454656180GLI3c.4641C>T (p.Phe1547=)
c.4467C>T (p.Phe1489=)
n.4618C>T
c.4464C>T (p.Phe1488=)
c.4638C>T (p.Phe1546=)
 COSMIC
7g.41964432G>CCA367314608GLI3c.4641C>G (p.Phe1547Leu)
c.4467C>G (p.Phe1489Leu)
n.4618C>G
c.4464C>G (p.Phe1488Leu)
c.4638C>G (p.Phe1546Leu)
7g.41964432G>TCA367314607GLI3c.4641C>A (p.Phe1547Leu)
c.4467C>A (p.Phe1489Leu)
n.4618C>A
c.4464C>A (p.Phe1488Leu)
c.4638C>A (p.Phe1546Leu)
 gnomAD v4
7g.41964433A=CA1702660260GLI3c.4640T= (p.Phe1547=)
c.4466T= (p.Phe1489=)
n.4617T=
c.4463T= (p.Phe1488=)
c.4637T= (p.Phe1546=)
7g.41964433A>CCA367314610GLI3c.4640T>G (p.Phe1547Cys)
c.4466T>G (p.Phe1489Cys)
n.4617T>G
c.4463T>G (p.Phe1488Cys)
c.4637T>G (p.Phe1546Cys)
7g.41964433A>GCA367314609GLI3c.4640T>C (p.Phe1547Ser)
c.4466T>C (p.Phe1489Ser)
n.4617T>C
c.4463T>C (p.Phe1488Ser)
c.4637T>C (p.Phe1546Ser)
 gnomAD v4
7g.41964433A>TCA4230084GLI3c.4640T>A (p.Phe1547Tyr)
c.4466T>A (p.Phe1489Tyr)
n.4617T>A
c.4463T>A (p.Phe1488Tyr)
c.4637T>A (p.Phe1546Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41964434A>CCA367314611GLI3c.4639T>G (p.Phe1547Val)
c.4465T>G (p.Phe1489Val)
n.4616T>G
c.4462T>G (p.Phe1488Val)
c.4636T>G (p.Phe1546Val)
7g.41964434A>GCA367314612GLI3c.4639T>C (p.Phe1547Leu)
c.4465T>C (p.Phe1489Leu)
n.4616T>C
c.4462T>C (p.Phe1488Leu)
c.4636T>C (p.Phe1546Leu)
 gnomAD v4
7g.41964434A>TCA367314613GLI3c.4639T>A (p.Phe1547Ile)
c.4465T>A (p.Phe1489Ile)
n.4616T>A
c.4462T>A (p.Phe1488Ile)
c.4636T>A (p.Phe1546Ile)
7g.41964435T>ACA454656181GLI3c.4638A>T (p.Pro1546=)
c.4464A>T (p.Pro1488=)
n.4615A>T
c.4461A>T (p.Pro1487=)
c.4635A>T (p.Pro1545=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41964435T>CCA454656182GLI3c.4638A>G (p.Pro1546=)
c.4464A>G (p.Pro1488=)
n.4615A>G
c.4461A>G (p.Pro1487=)
c.4635A>G (p.Pro1545=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.41964435T>GCA454656183GLI3c.4638A>C (p.Pro1546=)
c.4464A>C (p.Pro1488=)
n.4615A>C
c.4461A>C (p.Pro1487=)
c.4635A>C (p.Pro1545=)
7g.41964435T=CA1702660261GLI3c.4638A= (p.Pro1546=)
c.4464A= (p.Pro1488=)
n.4615A=
c.4461A= (p.Pro1487=)
c.4635A= (p.Pro1545=)
7g.41964436G>ACA367314614GLI3c.4637C>T (p.Pro1546Leu)
c.4463C>T (p.Pro1488Leu)
n.4614C>T
c.4460C>T (p.Pro1487Leu)
c.4634C>T (p.Pro1545Leu)
7g.41964436G>CCA367314615GLI3c.4637C>G (p.Pro1546Arg)
c.4463C>G (p.Pro1488Arg)
n.4614C>G
c.4460C>G (p.Pro1487Arg)
c.4634C>G (p.Pro1545Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.41964436G=CA1702660262GLI3c.4637C= (p.Pro1546=)
c.4463C= (p.Pro1488=)
n.4614C=
c.4460C= (p.Pro1487=)
c.4634C= (p.Pro1545=)
7g.41964436G>TCA367314616GLI3c.4637C>A (p.Pro1546Gln)
c.4463C>A (p.Pro1488Gln)
n.4614C>A
c.4460C>A (p.Pro1487Gln)
c.4634C>A (p.Pro1545Gln)
 gnomAD v4
7g.41964437G>ACA367314617GLI3c.4636C>T (p.Pro1546Ser)
c.4462C>T (p.Pro1488Ser)
n.4613C>T
c.4459C>T (p.Pro1487Ser)
c.4633C>T (p.Pro1545Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.41964437G>CCA367314618GLI3c.4636C>G (p.Pro1546Ala)
c.4462C>G (p.Pro1488Ala)
n.4613C>G
c.4459C>G (p.Pro1487Ala)
c.4633C>G (p.Pro1545Ala)
7g.41964437G=CA1702660263GLI3c.4636C= (p.Pro1546=)
c.4462C= (p.Pro1488=)
n.4613C=
c.4459C= (p.Pro1487=)
c.4633C= (p.Pro1545=)
7g.41964437G>TCA367314619GLI3c.4636C>A (p.Pro1546Thr)
c.4462C>A (p.Pro1488Thr)
n.4613C>A
c.4459C>A (p.Pro1487Thr)
c.4633C>A (p.Pro1545Thr)
7g.41964438G>ACA454656184GLI3c.4635C>T (p.Leu1545=)
c.4461C>T (p.Leu1487=)
n.4612C>T
c.4458C>T (p.Leu1486=)
c.4632C>T (p.Leu1544=)
7g.41964438G>CCA454656185GLI3c.4635C>G (p.Leu1545=)
c.4461C>G (p.Leu1487=)
n.4612C>G
c.4458C>G (p.Leu1486=)
c.4632C>G (p.Leu1544=)
7g.41964438G>TCA454656186GLI3c.4635C>A (p.Leu1545=)
c.4461C>A (p.Leu1487=)
n.4612C>A
c.4458C>A (p.Leu1486=)
c.4632C>A (p.Leu1544=)
7g.41964439A>CCA367314622GLI3c.4634T>G (p.Leu1545Arg)
c.4460T>G (p.Leu1487Arg)
n.4611T>G
c.4457T>G (p.Leu1486Arg)
c.4631T>G (p.Leu1544Arg)
7g.41964439A>GCA367314621GLI3c.4634T>C (p.Leu1545Pro)
c.4460T>C (p.Leu1487Pro)
n.4611T>C
c.4457T>C (p.Leu1486Pro)
c.4631T>C (p.Leu1544Pro)
 gnomAD v4
7g.41964439A>TCA367314620GLI3c.4634T>A (p.Leu1545His)
c.4460T>A (p.Leu1487His)
n.4611T>A
c.4457T>A (p.Leu1486His)
c.4631T>A (p.Leu1544His)
7g.41964440G>ACA367314623GLI3c.4633C>T (p.Leu1545Phe)
c.4459C>T (p.Leu1487Phe)
n.4610C>T
c.4456C>T (p.Leu1486Phe)
c.4630C>T (p.Leu1544Phe)
7g.41964440G>CCA367314624GLI3c.4633C>G (p.Leu1545Val)
c.4459C>G (p.Leu1487Val)
n.4610C>G
c.4456C>G (p.Leu1486Val)
c.4630C>G (p.Leu1544Val)
 gnomAD v4
7g.41964440G>TCA367314625GLI3c.4633C>A (p.Leu1545Ile)
c.4459C>A (p.Leu1487Ile)
n.4610C>A
c.4456C>A (p.Leu1486Ile)
c.4630C>A (p.Leu1544Ile)
7g.41964441G>ACA156901554GLI3c.4632C>T (p.Ser1544=)
c.4458C>T (p.Ser1486=)
n.4609C>T
c.4455C>T (p.Ser1485=)
c.4629C>T (p.Ser1543=)
 dbSNP
7g.41964441G>CCA454656187GLI3c.4632C>G (p.Ser1544=)
c.4458C>G (p.Ser1486=)
n.4609C>G
c.4455C>G (p.Ser1485=)
c.4629C>G (p.Ser1543=)
7g.41964441G=CA1702660264GLI3c.4632C= (p.Ser1544=)
c.4458C= (p.Ser1486=)
n.4609C=
c.4455C= (p.Ser1485=)
c.4629C= (p.Ser1543=)
7g.41964441G>TCA454656188GLI3c.4632C>A (p.Ser1544=)
c.4458C>A (p.Ser1486=)
n.4609C>A
c.4455C>A (p.Ser1485=)
c.4629C>A (p.Ser1543=)
7g.41964442G>ACA367314626GLI3c.4631C>T (p.Ser1544Phe)
c.4457C>T (p.Ser1486Phe)
n.4608C>T
c.4454C>T (p.Ser1485Phe)
c.4628C>T (p.Ser1543Phe)
 dbSNP gnomAD v3 gnomAD v4
7g.41964442G>CCA367314627GLI3c.4631C>G (p.Ser1544Cys)
c.4457C>G (p.Ser1486Cys)
n.4608C>G
c.4454C>G (p.Ser1485Cys)
c.4628C>G (p.Ser1543Cys)
 dbSNP gnomAD v3 gnomAD v4
7g.41964442G=CA1702660265GLI3c.4631C= (p.Ser1544=)
c.4457C= (p.Ser1486=)
n.4608C=
c.4454C= (p.Ser1485=)
c.4628C= (p.Ser1543=)
7g.41964442G>TCA367314628GLI3c.4631C>A (p.Ser1544Tyr)
c.4457C>A (p.Ser1486Tyr)
n.4608C>A
c.4454C>A (p.Ser1485Tyr)
c.4628C>A (p.Ser1543Tyr)
7g.41964443A=CA1702660266GLI3c.4630T= (p.Ser1544=)
c.4456T= (p.Ser1486=)
n.4607T=
c.4453T= (p.Ser1485=)
c.4627T= (p.Ser1543=)
7g.41964443A>CCA367314629GLI3c.4630T>G (p.Ser1544Ala)
c.4456T>G (p.Ser1486Ala)
n.4607T>G
c.4453T>G (p.Ser1485Ala)
c.4627T>G (p.Ser1543Ala)
7g.41964443A>GCA367314630GLI3c.4630T>C (p.Ser1544Pro)
c.4456T>C (p.Ser1486Pro)
n.4607T>C
c.4453T>C (p.Ser1485Pro)
c.4627T>C (p.Ser1543Pro)
 dbSNP gnomAD v2
7g.41964443A>TCA367314631GLI3c.4630T>A (p.Ser1544Thr)
c.4456T>A (p.Ser1486Thr)
n.4607T>A
c.4453T>A (p.Ser1485Thr)
c.4627T>A (p.Ser1543Thr)
7g.41964444C>ACA454656189GLI3c.4629G>T (p.Ala1543=)
c.4455G>T (p.Ala1485=)
n.4606G>T
c.4452G>T (p.Ala1484=)
c.4626G>T (p.Ala1542=)
7g.41964444C=CA1702660267GLI3c.4629G= (p.Ala1543=)
c.4455G= (p.Ala1485=)
n.4606G=
c.4452G= (p.Ala1484=)
c.4626G= (p.Ala1542=)
7g.41964444C>GCA454656190GLI3c.4629G>C (p.Ala1543=)
c.4455G>C (p.Ala1485=)
n.4606G>C
c.4452G>C (p.Ala1484=)
c.4626G>C (p.Ala1542=)
7g.41964444C>TCA156901561GLI3c.4629G>A (p.Ala1543=)
c.4455G>A (p.Ala1485=)
n.4606G>A
c.4452G>A (p.Ala1484=)
c.4626G>A (p.Ala1542=)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
7g.41964445G>ACA367314632GLI3c.4628C>T (p.Ala1543Val)
c.4454C>T (p.Ala1485Val)
n.4605C>T
c.4451C>T (p.Ala1484Val)
c.4625C>T (p.Ala1542Val)
 gnomAD v4
7g.41964445G>CCA367314633GLI3c.4628C>G (p.Ala1543Gly)
c.4454C>G (p.Ala1485Gly)
n.4605C>G
c.4451C>G (p.Ala1484Gly)
c.4625C>G (p.Ala1542Gly)
 COSMIC
7g.41964445G>TCA367314634GLI3c.4628C>A (p.Ala1543Glu)
c.4454C>A (p.Ala1485Glu)
n.4605C>A
c.4451C>A (p.Ala1484Glu)
c.4625C>A (p.Ala1542Glu)
7g.41964446C>ACA367314636GLI3c.4627G>T (p.Ala1543Ser)
c.4453G>T (p.Ala1485Ser)
n.4604G>T
c.4450G>T (p.Ala1484Ser)
c.4624G>T (p.Ala1542Ser)
 ClinVar dbSNP
7g.41964446C=CA1702660268GLI3c.4627G= (p.Ala1543=)
c.4453G= (p.Ala1485=)
n.4604G=
c.4450G= (p.Ala1484=)
c.4624G= (p.Ala1542=)
7g.41964446C>GCA367314637GLI3c.4627G>C (p.Ala1543Pro)
c.4453G>C (p.Ala1485Pro)
n.4604G>C
c.4450G>C (p.Ala1484Pro)
c.4624G>C (p.Ala1542Pro)
7g.41964446C>TCA367314635GLI3c.4627G>A (p.Ala1543Thr)
c.4453G>A (p.Ala1485Thr)
n.4604G>A
c.4450G>A (p.Ala1484Thr)
c.4624G>A (p.Ala1542Thr)
 COSMIC
7g.41964447C>ACA454656191GLI3c.4626G>T (p.Arg1542=)
c.4452G>T (p.Arg1484=)
n.4603G>T
c.4449G>T (p.Arg1483=)
c.4623G>T (p.Arg1541=)
7g.41964447C>GCA454656192GLI3c.4626G>C (p.Arg1542=)
c.4452G>C (p.Arg1484=)
n.4603G>C
c.4449G>C (p.Arg1483=)
c.4623G>C (p.Arg1541=)
7g.41964447C>TCA454656193GLI3c.4626G>A (p.Arg1542=)
c.4452G>A (p.Arg1484=)
n.4603G>A
c.4449G>A (p.Arg1483=)
c.4623G>A (p.Arg1541=)
7g.41964448C>ACA367314638GLI3c.4625G>T (p.Arg1542Leu)
c.4451G>T (p.Arg1484Leu)
n.4602G>T
c.4448G>T (p.Arg1483Leu)
c.4622G>T (p.Arg1541Leu)
7g.41964448C=CA1702660269GLI3c.4625G= (p.Arg1542=)
c.4451G= (p.Arg1484=)
n.4602G=
c.4448G= (p.Arg1483=)
c.4622G= (p.Arg1541=)
7g.41964448C>GCA367314639GLI3c.4625G>C (p.Arg1542Pro)
c.4451G>C (p.Arg1484Pro)
n.4602G>C
c.4448G>C (p.Arg1483Pro)
c.4622G>C (p.Arg1541Pro)
7g.41964448C>TCA367314640GLI3c.4625G>A (p.Arg1542Gln)
c.4451G>A (p.Arg1484Gln)
n.4602G>A
c.4448G>A (p.Arg1483Gln)
c.4622G>A (p.Arg1541Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.41964450_41964454dupCA2695198478GLI3c.4621_4625dup (p.Ala1543LeufsTer12)
c.4447_4451dup (p.Ala1485LeufsTer12)
n.4598_4602dup
c.4444_4448dup (p.Ala1484LeufsTer12)
c.4618_4622dup (p.Ala1542LeufsTer12)
 ClinVar

Number of alleles fetched