Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.120990556dup	CA645520584	GLI2	c.4591dup (p.Arg1531ProfsTer?) c.4642dup (p.Arg1548ProfsTer?) c.3690dup (n.3690dup) c.2544-34dup (n.2544-34dup) c.3741dup (n.3741dup) c.2493-34dup (n.2493-34dup) c.4624dup (p.Arg1542ProfsTer?) c.4501dup (p.Arg1501ProfsTer?) c.4447dup (p.Arg1483ProfsTer?) c.4267dup (p.Arg1423ProfsTer?) c.4216dup (p.Arg1406ProfsTer?) c.4894dup (p.Arg1632ProfsTer?) c.4543dup (p.Arg1515ProfsTer?) c.4843dup (p.Arg1615ProfsTer?)	gnomAD v4 COSMIC
2	g.120990556del	CA916636049	GLI2	c.4591del (p.Arg1531GlufsTer4) c.4642del (p.Arg1548GlufsTer4) c.3690del (n.3690del) c.2544-34del (n.2544-34del) c.3741del (n.3741del) c.2493-34del (n.2493-34del) c.4624del (p.Arg1542GlufsTer4) c.4501del (p.Arg1501GlufsTer4) c.4447del (p.Arg1483GlufsTer4) c.4267del (p.Arg1423GlufsTer4) c.4216del (p.Arg1406GlufsTer4) c.4894del (p.Arg1632GlufsTer4) c.4543del (p.Arg1515GlufsTer4) c.4843del (p.Arg1615GlufsTer4)	dbSNP
2	g.120990552C>A	CA428750747	GLI2	c.4587C>A (p.Thr1529=) c.4638C>A (p.Thr1546=) c.3686C>A (n.3686C>A) c.2544-38C>A (n.2544-38C>A) c.3737C>A (n.3737C>A) c.2493-38C>A (n.2493-38C>A) c.4620C>A (p.Thr1540=) c.4497C>A (p.Thr1499=) c.4443C>A (p.Thr1481=) c.4263C>A (p.Thr1421=) c.4212C>A (p.Thr1404=) c.4890C>A (p.Thr1630=) c.4539C>A (p.Thr1513=) c.4839C>A (p.Thr1613=)
2	g.120990552C=	CA1283796172	GLI2	c.4587C= (p.Thr1529=) c.4638C= (p.Thr1546=) c.3686C= (n.3686C=) c.2544-38C= (n.2544-38C=) c.3737C= (n.3737C=) c.2493-38C= (n.2493-38C=) c.4620C= (p.Thr1540=) c.4497C= (p.Thr1499=) c.4443C= (p.Thr1481=) c.4263C= (p.Thr1421=) c.4212C= (p.Thr1404=) c.4890C= (p.Thr1630=) c.4539C= (p.Thr1513=) c.4839C= (p.Thr1613=)
2	g.120990552C>G	CA428750748	GLI2	c.4587C>G (p.Thr1529=) c.4638C>G (p.Thr1546=) c.3686C>G (n.3686C>G) c.2544-38C>G (n.2544-38C>G) c.3737C>G (n.3737C>G) c.2493-38C>G (n.2493-38C>G) c.4620C>G (p.Thr1540=) c.4497C>G (p.Thr1499=) c.4443C>G (p.Thr1481=) c.4263C>G (p.Thr1421=) c.4212C>G (p.Thr1404=) c.4890C>G (p.Thr1630=) c.4539C>G (p.Thr1513=) c.4839C>G (p.Thr1613=)
2	g.120990552C>T	CA428750749	GLI2	c.4587C>T (p.Thr1529=) c.4638C>T (p.Thr1546=) c.3686C>T (n.3686C>T) c.2544-38C>T (n.2544-38C>T) c.3737C>T (n.3737C>T) c.2493-38C>T (n.2493-38C>T) c.4620C>T (p.Thr1540=) c.4497C>T (p.Thr1499=) c.4443C>T (p.Thr1481=) c.4263C>T (p.Thr1421=) c.4212C>T (p.Thr1404=) c.4890C>T (p.Thr1630=) c.4539C>T (p.Thr1513=) c.4839C>T (p.Thr1613=)	dbSNP gnomAD v2 gnomAD v4
2	g.120990553C>A	CA348180156	GLI2	c.4588C>A (p.Pro1530Thr) c.4639C>A (p.Pro1547Thr) c.3687C>A (n.3687C>A) c.2544-37C>A (n.2544-37C>A) c.3738C>A (n.3738C>A) c.2493-37C>A (n.2493-37C>A) c.4621C>A (p.Pro1541Thr) c.4498C>A (p.Pro1500Thr) c.4444C>A (p.Pro1482Thr) c.4264C>A (p.Pro1422Thr) c.4213C>A (p.Pro1405Thr) c.4891C>A (p.Pro1631Thr) c.4540C>A (p.Pro1514Thr) c.4840C>A (p.Pro1614Thr)
2	g.120990553C>G	CA348180157	GLI2	c.4588C>G (p.Pro1530Ala) c.4639C>G (p.Pro1547Ala) c.3687C>G (n.3687C>G) c.2544-37C>G (n.2544-37C>G) c.3738C>G (n.3738C>G) c.2493-37C>G (n.2493-37C>G) c.4621C>G (p.Pro1541Ala) c.4498C>G (p.Pro1500Ala) c.4444C>G (p.Pro1482Ala) c.4264C>G (p.Pro1422Ala) c.4213C>G (p.Pro1405Ala) c.4891C>G (p.Pro1631Ala) c.4540C>G (p.Pro1514Ala) c.4840C>G (p.Pro1614Ala)
2	g.120990553C>T	CA348180158	GLI2	c.4588C>T (p.Pro1530Ser) c.4639C>T (p.Pro1547Ser) c.3687C>T (n.3687C>T) c.2544-37C>T (n.2544-37C>T) c.3738C>T (n.3738C>T) c.2493-37C>T (n.2493-37C>T) c.4621C>T (p.Pro1541Ser) c.4498C>T (p.Pro1500Ser) c.4444C>T (p.Pro1482Ser) c.4264C>T (p.Pro1422Ser) c.4213C>T (p.Pro1405Ser) c.4891C>T (p.Pro1631Ser) c.4540C>T (p.Pro1514Ser) c.4840C>T (p.Pro1614Ser)
2	g.120990554C>A	CA1852671	GLI2	c.4589C>A (p.Pro1530His) c.4640C>A (p.Pro1547His) c.3688C>A (n.3688C>A) c.2544-36C>A (n.2544-36C>A) c.3739C>A (n.3739C>A) c.2493-36C>A (n.2493-36C>A) c.4622C>A (p.Pro1541His) c.4499C>A (p.Pro1500His) c.4445C>A (p.Pro1482His) c.4265C>A (p.Pro1422His) c.4214C>A (p.Pro1405His) c.4892C>A (p.Pro1631His) c.4541C>A (p.Pro1514His) c.4841C>A (p.Pro1614His)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.120990554C=	CA1283796173	GLI2	c.4589C= (p.Pro1530=) c.4640C= (p.Pro1547=) c.3688C= (n.3688C=) c.2544-36C= (n.2544-36C=) c.3739C= (n.3739C=) c.2493-36C= (n.2493-36C=) c.4622C= (p.Pro1541=) c.4499C= (p.Pro1500=) c.4445C= (p.Pro1482=) c.4265C= (p.Pro1422=) c.4214C= (p.Pro1405=) c.4892C= (p.Pro1631=) c.4541C= (p.Pro1514=) c.4841C= (p.Pro1614=)
2	g.120990554C>G	CA1852672	GLI2	c.4589C>G (p.Pro1530Arg) c.4640C>G (p.Pro1547Arg) c.3688C>G (n.3688C>G) c.2544-36C>G (n.2544-36C>G) c.3739C>G (n.3739C>G) c.2493-36C>G (n.2493-36C>G) c.4622C>G (p.Pro1541Arg) c.4499C>G (p.Pro1500Arg) c.4445C>G (p.Pro1482Arg) c.4265C>G (p.Pro1422Arg) c.4214C>G (p.Pro1405Arg) c.4892C>G (p.Pro1631Arg) c.4541C>G (p.Pro1514Arg) c.4841C>G (p.Pro1614Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.120990554C>T	CA1852670	GLI2	c.4589C>T (p.Pro1530Leu) c.4640C>T (p.Pro1547Leu) c.3688C>T (n.3688C>T) c.2544-36C>T (n.2544-36C>T) c.3739C>T (n.3739C>T) c.2493-36C>T (n.2493-36C>T) c.4622C>T (p.Pro1541Leu) c.4499C>T (p.Pro1500Leu) c.4445C>T (p.Pro1482Leu) c.4265C>T (p.Pro1422Leu) c.4214C>T (p.Pro1405Leu) c.4892C>T (p.Pro1631Leu) c.4541C>T (p.Pro1514Leu) c.4841C>T (p.Pro1614Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.120990555C>A	CA428750750	GLI2	c.4590C>A (p.Pro1530=) c.4641C>A (p.Pro1547=) c.3689C>A (n.3689C>A) c.2544-35C>A (n.2544-35C>A) c.3740C>A (n.3740C>A) c.2493-35C>A (n.2493-35C>A) c.4623C>A (p.Pro1541=) c.4500C>A (p.Pro1500=) c.4446C>A (p.Pro1482=) c.4266C>A (p.Pro1422=) c.4215C>A (p.Pro1405=) c.4893C>A (p.Pro1631=) c.4542C>A (p.Pro1514=) c.4842C>A (p.Pro1614=)
2	g.120990555C=	CA1283796174	GLI2	c.4590C= (p.Pro1530=) c.4641C= (p.Pro1547=) c.3689C= (n.3689C=) c.2544-35C= (n.2544-35C=) c.3740C= (n.3740C=) c.2493-35C= (n.2493-35C=) c.4623C= (p.Pro1541=) c.4500C= (p.Pro1500=) c.4446C= (p.Pro1482=) c.4266C= (p.Pro1422=) c.4215C= (p.Pro1405=) c.4893C= (p.Pro1631=) c.4542C= (p.Pro1514=) c.4842C= (p.Pro1614=)
2	g.120990555C>G	CA428750751	GLI2	c.4590C>G (p.Pro1530=) c.4641C>G (p.Pro1547=) c.3689C>G (n.3689C>G) c.2544-35C>G (n.2544-35C>G) c.3740C>G (n.3740C>G) c.2493-35C>G (n.2493-35C>G) c.4623C>G (p.Pro1541=) c.4500C>G (p.Pro1500=) c.4446C>G (p.Pro1482=) c.4266C>G (p.Pro1422=) c.4215C>G (p.Pro1405=) c.4893C>G (p.Pro1631=) c.4542C>G (p.Pro1514=) c.4842C>G (p.Pro1614=)	gnomAD v4
2	g.120990555C>T	CA1852673	GLI2	c.4590C>T (p.Pro1530=) c.4641C>T (p.Pro1547=) c.3689C>T (n.3689C>T) c.2544-35C>T (n.2544-35C>T) c.3740C>T (n.3740C>T) c.2493-35C>T (n.2493-35C>T) c.4623C>T (p.Pro1541=) c.4500C>T (p.Pro1500=) c.4446C>T (p.Pro1482=) c.4266C>T (p.Pro1422=) c.4215C>T (p.Pro1405=) c.4893C>T (p.Pro1631=) c.4542C>T (p.Pro1514=) c.4842C>T (p.Pro1614=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.120990556C>A	CA428750752	GLI2	c.4591C>A (p.Arg1531=) c.4642C>A (p.Arg1548=) c.3690C>A (n.3690C>A) c.2544-34C>A (n.2544-34C>A) c.3741C>A (n.3741C>A) c.2493-34C>A (n.2493-34C>A) c.4624C>A (p.Arg1542=) c.4501C>A (p.Arg1501=) c.4447C>A (p.Arg1483=) c.4267C>A (p.Arg1423=) c.4216C>A (p.Arg1406=) c.4894C>A (p.Arg1632=) c.4543C>A (p.Arg1515=) c.4843C>A (p.Arg1615=)
2	g.120990556C=	CA1283796175	GLI2	c.4591C= (p.Arg1531=) c.4642C= (p.Arg1548=) c.3690C= (n.3690C=) c.2544-34C= (n.2544-34C=) c.3741C= (n.3741C=) c.2493-34C= (n.2493-34C=) c.4624C= (p.Arg1542=) c.4501C= (p.Arg1501=) c.4447C= (p.Arg1483=) c.4267C= (p.Arg1423=) c.4216C= (p.Arg1406=) c.4894C= (p.Arg1632=) c.4543C= (p.Arg1515=) c.4843C= (p.Arg1615=)
2	g.120990556C>G	CA348180159	GLI2	c.4591C>G (p.Arg1531Gly) c.4642C>G (p.Arg1548Gly) c.3690C>G (n.3690C>G) c.2544-34C>G (n.2544-34C>G) c.3741C>G (n.3741C>G) c.2493-34C>G (n.2493-34C>G) c.4624C>G (p.Arg1542Gly) c.4501C>G (p.Arg1501Gly) c.4447C>G (p.Arg1483Gly) c.4267C>G (p.Arg1423Gly) c.4216C>G (p.Arg1406Gly) c.4894C>G (p.Arg1632Gly) c.4543C>G (p.Arg1515Gly) c.4843C>G (p.Arg1615Gly)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.120990556C>T	CA348180160	GLI2	c.4591C>T (p.Arg1531Ter) c.4642C>T (p.Arg1548Ter) c.3690C>T (n.3690C>T) c.2544-34C>T (n.2544-34C>T) c.3741C>T (n.3741C>T) c.2493-34C>T (n.2493-34C>T) c.4624C>T (p.Arg1542Ter) c.4501C>T (p.Arg1501Ter) c.4447C>T (p.Arg1483Ter) c.4267C>T (p.Arg1423Ter) c.4216C>T (p.Arg1406Ter) c.4894C>T (p.Arg1632Ter) c.4543C>T (p.Arg1515Ter) c.4843C>T (p.Arg1615Ter)	ClinVar dbSNP
2	g.120990557G>A	CA1852674	GLI2	c.4592G>A (p.Arg1531Gln) c.4643G>A (p.Arg1548Gln) c.3691G>A (n.3691G>A) c.2544-33G>A (n.2544-33G>A) c.3742G>A (n.3742G>A) c.2493-33G>A (n.2493-33G>A) c.4625G>A (p.Arg1542Gln) c.4502G>A (p.Arg1501Gln) c.4448G>A (p.Arg1483Gln) c.4268G>A (p.Arg1423Gln) c.4217G>A (p.Arg1406Gln) c.4895G>A (p.Arg1632Gln) c.4544G>A (p.Arg1515Gln) c.4844G>A (p.Arg1615Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.120990557G>C	CA348180161	GLI2	c.4592G>C (p.Arg1531Pro) c.4643G>C (p.Arg1548Pro) c.3691G>C (n.3691G>C) c.2544-33G>C (n.2544-33G>C) c.3742G>C (n.3742G>C) c.2493-33G>C (n.2493-33G>C) c.4625G>C (p.Arg1542Pro) c.4502G>C (p.Arg1501Pro) c.4448G>C (p.Arg1483Pro) c.4268G>C (p.Arg1423Pro) c.4217G>C (p.Arg1406Pro) c.4895G>C (p.Arg1632Pro) c.4544G>C (p.Arg1515Pro) c.4844G>C (p.Arg1615Pro)	dbSNP
2	g.120990557G=	CA1283796176	GLI2	c.4592G= (p.Arg1531=) c.4643G= (p.Arg1548=) c.3691G= (n.3691G=) c.2544-33G= (n.2544-33G=) c.3742G= (n.3742G=) c.2493-33G= (n.2493-33G=) c.4625G= (p.Arg1542=) c.4502G= (p.Arg1501=) c.4448G= (p.Arg1483=) c.4268G= (p.Arg1423=) c.4217G= (p.Arg1406=) c.4895G= (p.Arg1632=) c.4544G= (p.Arg1515=) c.4844G= (p.Arg1615=)
2	g.120990557G>T	CA348180162	GLI2	c.4592G>T (p.Arg1531Leu) c.4643G>T (p.Arg1548Leu) c.3691G>T (n.3691G>T) c.2544-33G>T (n.2544-33G>T) c.3742G>T (n.3742G>T) c.2493-33G>T (n.2493-33G>T) c.4625G>T (p.Arg1542Leu) c.4502G>T (p.Arg1501Leu) c.4448G>T (p.Arg1483Leu) c.4268G>T (p.Arg1423Leu) c.4217G>T (p.Arg1406Leu) c.4895G>T (p.Arg1632Leu) c.4544G>T (p.Arg1515Leu) c.4844G>T (p.Arg1615Leu)	dbSNP
2	g.120990558A>C	CA428750753	GLI2	c.4593A>C (p.Arg1531=) c.4644A>C (p.Arg1548=) c.3692A>C (n.3692A>C) c.2544-32A>C (n.2544-32A>C) c.3743A>C (n.3743A>C) c.2493-32A>C (n.2493-32A>C) c.4626A>C (p.Arg1542=) c.4503A>C (p.Arg1501=) c.4449A>C (p.Arg1483=) c.4269A>C (p.Arg1423=) c.4218A>C (p.Arg1406=) c.4896A>C (p.Arg1632=) c.4545A>C (p.Arg1515=) c.4845A>C (p.Arg1615=)	dbSNP
2	g.120990558A>G	CA428750754	GLI2	c.4593A>G (p.Arg1531=) c.4644A>G (p.Arg1548=) c.3692A>G (n.3692A>G) c.2544-32A>G (n.2544-32A>G) c.3743A>G (n.3743A>G) c.2493-32A>G (n.2493-32A>G) c.4626A>G (p.Arg1542=) c.4503A>G (p.Arg1501=) c.4449A>G (p.Arg1483=) c.4269A>G (p.Arg1423=) c.4218A>G (p.Arg1406=) c.4896A>G (p.Arg1632=) c.4545A>G (p.Arg1515=) c.4845A>G (p.Arg1615=)
2	g.120990558A>T	CA428750755	GLI2	c.4593A>T (p.Arg1531=) c.4644A>T (p.Arg1548=) c.3692A>T (n.3692A>T) c.2544-32A>T (n.2544-32A>T) c.3743A>T (n.3743A>T) c.2493-32A>T (n.2493-32A>T) c.4626A>T (p.Arg1542=) c.4503A>T (p.Arg1501=) c.4449A>T (p.Arg1483=) c.4269A>T (p.Arg1423=) c.4218A>T (p.Arg1406=) c.4896A>T (p.Arg1632=) c.4545A>T (p.Arg1515=) c.4845A>T (p.Arg1615=)
2	g.120990559A=	CA1283796177	GLI2	c.4594A= (p.Asn1532=) c.4645A= (p.Asn1549=) c.3693A= (n.3693A=) c.2544-31A= (n.2544-31A=) c.3744A= (n.3744A=) c.2493-31A= (n.2493-31A=) c.4627A= (p.Asn1543=) c.4504A= (p.Asn1502=) c.4450A= (p.Asn1484=) c.4270A= (p.Asn1424=) c.4219A= (p.Asn1407=) c.4897A= (p.Asn1633=) c.4546A= (p.Asn1516=) c.4846A= (p.Asn1616=)
2	g.120990559A>C	CA348180165	GLI2	c.4594A>C (p.Asn1532His) c.4645A>C (p.Asn1549His) c.3693A>C (n.3693A>C) c.2544-31A>C (n.2544-31A>C) c.3744A>C (n.3744A>C) c.2493-31A>C (n.2493-31A>C) c.4627A>C (p.Asn1543His) c.4504A>C (p.Asn1502His) c.4450A>C (p.Asn1484His) c.4270A>C (p.Asn1424His) c.4219A>C (p.Asn1407His) c.4897A>C (p.Asn1633His) c.4546A>C (p.Asn1516His) c.4846A>C (p.Asn1616His)
2	g.120990559A>G	CA348180164	GLI2	c.4594A>G (p.Asn1532Asp) c.4645A>G (p.Asn1549Asp) c.3693A>G (n.3693A>G) c.2544-31A>G (n.2544-31A>G) c.3744A>G (n.3744A>G) c.2493-31A>G (n.2493-31A>G) c.4627A>G (p.Asn1543Asp) c.4504A>G (p.Asn1502Asp) c.4450A>G (p.Asn1484Asp) c.4270A>G (p.Asn1424Asp) c.4219A>G (p.Asn1407Asp) c.4897A>G (p.Asn1633Asp) c.4546A>G (p.Asn1516Asp) c.4846A>G (p.Asn1616Asp)
2	g.120990559A>T	CA348180163	GLI2	c.4594A>T (p.Asn1532Tyr) c.4645A>T (p.Asn1549Tyr) c.3693A>T (n.3693A>T) c.2544-31A>T (n.2544-31A>T) c.3744A>T (n.3744A>T) c.2493-31A>T (n.2493-31A>T) c.4627A>T (p.Asn1543Tyr) c.4504A>T (p.Asn1502Tyr) c.4450A>T (p.Asn1484Tyr) c.4270A>T (p.Asn1424Tyr) c.4219A>T (p.Asn1407Tyr) c.4897A>T (p.Asn1633Tyr) c.4546A>T (p.Asn1516Tyr) c.4846A>T (p.Asn1616Tyr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.120990560A>C	CA348180167	GLI2	c.4595A>C (p.Asn1532Thr) c.4646A>C (p.Asn1549Thr) c.3694A>C (n.3694A>C) c.2544-30A>C (n.2544-30A>C) c.3745A>C (n.3745A>C) c.2493-30A>C (n.2493-30A>C) c.4628A>C (p.Asn1543Thr) c.4505A>C (p.Asn1502Thr) c.4451A>C (p.Asn1484Thr) c.4271A>C (p.Asn1424Thr) c.4220A>C (p.Asn1407Thr) c.4898A>C (p.Asn1633Thr) c.4547A>C (p.Asn1516Thr) c.4847A>C (p.Asn1616Thr)	gnomAD v3 gnomAD v4
2	g.120990560A>G	CA348180166	GLI2	c.4595A>G (p.Asn1532Ser) c.4646A>G (p.Asn1549Ser) c.3694A>G (n.3694A>G) c.2544-30A>G (n.2544-30A>G) c.3745A>G (n.3745A>G) c.2493-30A>G (n.2493-30A>G) c.4628A>G (p.Asn1543Ser) c.4505A>G (p.Asn1502Ser) c.4451A>G (p.Asn1484Ser) c.4271A>G (p.Asn1424Ser) c.4220A>G (p.Asn1407Ser) c.4898A>G (p.Asn1633Ser) c.4547A>G (p.Asn1516Ser) c.4847A>G (p.Asn1616Ser)
2	g.120990560A>T	CA348180168	GLI2	c.4595A>T (p.Asn1532Ile) c.4646A>T (p.Asn1549Ile) c.3694A>T (n.3694A>T) c.2544-30A>T (n.2544-30A>T) c.3745A>T (n.3745A>T) c.2493-30A>T (n.2493-30A>T) c.4628A>T (p.Asn1543Ile) c.4505A>T (p.Asn1502Ile) c.4451A>T (p.Asn1484Ile) c.4271A>T (p.Asn1424Ile) c.4220A>T (p.Asn1407Ile) c.4898A>T (p.Asn1633Ile) c.4547A>T (p.Asn1516Ile) c.4847A>T (p.Asn1616Ile)
2	g.120990561C>A	CA348180169	GLI2	c.4596C>A (p.Asn1532Lys) c.4647C>A (p.Asn1549Lys) c.3695C>A (n.3695C>A) c.2544-29C>A (n.2544-29C>A) c.3746C>A (n.3746C>A) c.2493-29C>A (n.2493-29C>A) c.4629C>A (p.Asn1543Lys) c.4506C>A (p.Asn1502Lys) c.4452C>A (p.Asn1484Lys) c.4272C>A (p.Asn1424Lys) c.4221C>A (p.Asn1407Lys) c.4899C>A (p.Asn1633Lys) c.4548C>A (p.Asn1516Lys) c.4848C>A (p.Asn1616Lys)
2	g.120990561C=	CA1283796178	GLI2	c.4596C= (p.Asn1532=) c.4647C= (p.Asn1549=) c.3695C= (n.3695C=) c.2544-29C= (n.2544-29C=) c.3746C= (n.3746C=) c.2493-29C= (n.2493-29C=) c.4629C= (p.Asn1543=) c.4506C= (p.Asn1502=) c.4452C= (p.Asn1484=) c.4272C= (p.Asn1424=) c.4221C= (p.Asn1407=) c.4899C= (p.Asn1633=) c.4548C= (p.Asn1516=) c.4848C= (p.Asn1616=)
2	g.120990561C>G	CA1852675	GLI2	c.4596C>G (p.Asn1532Lys) c.4647C>G (p.Asn1549Lys) c.3695C>G (n.3695C>G) c.2544-29C>G (n.2544-29C>G) c.3746C>G (n.3746C>G) c.2493-29C>G (n.2493-29C>G) c.4629C>G (p.Asn1543Lys) c.4506C>G (p.Asn1502Lys) c.4452C>G (p.Asn1484Lys) c.4272C>G (p.Asn1424Lys) c.4221C>G (p.Asn1407Lys) c.4899C>G (p.Asn1633Lys) c.4548C>G (p.Asn1516Lys) c.4848C>G (p.Asn1616Lys)	dbSNP ExAC gnomAD v2
2	g.120990561C>T	CA428750756	GLI2	c.4596C>T (p.Asn1532=) c.4647C>T (p.Asn1549=) c.3695C>T (n.3695C>T) c.2544-29C>T (n.2544-29C>T) c.3746C>T (n.3746C>T) c.2493-29C>T (n.2493-29C>T) c.4629C>T (p.Asn1543=) c.4506C>T (p.Asn1502=) c.4452C>T (p.Asn1484=) c.4272C>T (p.Asn1424=) c.4221C>T (p.Asn1407=) c.4899C>T (p.Asn1633=) c.4548C>T (p.Asn1516=) c.4848C>T (p.Asn1616=)	dbSNP gnomAD v4
2	g.120990562T>A	CA348180170	GLI2	c.4597T>A (p.Ser1533Thr) c.4648T>A (p.Ser1550Thr) c.3696T>A (n.3696T>A) c.2544-28T>A (n.2544-28T>A) c.3747T>A (n.3747T>A) c.2493-28T>A (n.2493-28T>A) c.4630T>A (p.Ser1544Thr) c.4507T>A (p.Ser1503Thr) c.4453T>A (p.Ser1485Thr) c.4273T>A (p.Ser1425Thr) c.4222T>A (p.Ser1408Thr) c.4900T>A (p.Ser1634Thr) c.4549T>A (p.Ser1517Thr) c.4849T>A (p.Ser1617Thr)
2	g.120990562T>C	CA348180171	GLI2	c.4597T>C (p.Ser1533Pro) c.4648T>C (p.Ser1550Pro) c.3696T>C (n.3696T>C) c.2544-28T>C (n.2544-28T>C) c.3747T>C (n.3747T>C) c.2493-28T>C (n.2493-28T>C) c.4630T>C (p.Ser1544Pro) c.4507T>C (p.Ser1503Pro) c.4453T>C (p.Ser1485Pro) c.4273T>C (p.Ser1425Pro) c.4222T>C (p.Ser1408Pro) c.4900T>C (p.Ser1634Pro) c.4549T>C (p.Ser1517Pro) c.4849T>C (p.Ser1617Pro)
2	g.120990562T>G	CA348180172	GLI2	c.4597T>G (p.Ser1533Ala) c.4648T>G (p.Ser1550Ala) c.3696T>G (n.3696T>G) c.2544-28T>G (n.2544-28T>G) c.3747T>G (n.3747T>G) c.2493-28T>G (n.2493-28T>G) c.4630T>G (p.Ser1544Ala) c.4507T>G (p.Ser1503Ala) c.4453T>G (p.Ser1485Ala) c.4273T>G (p.Ser1425Ala) c.4222T>G (p.Ser1408Ala) c.4900T>G (p.Ser1634Ala) c.4549T>G (p.Ser1517Ala) c.4849T>G (p.Ser1617Ala)
2	g.120990563C>A	CA348180173	GLI2	c.4598C>A (p.Ser1533Tyr) c.4649C>A (p.Ser1550Tyr) c.3697C>A (n.3697C>A) c.2544-27C>A (n.2544-27C>A) c.3748C>A (n.3748C>A) c.2493-27C>A (n.2493-27C>A) c.4631C>A (p.Ser1544Tyr) c.4508C>A (p.Ser1503Tyr) c.4454C>A (p.Ser1485Tyr) c.4274C>A (p.Ser1425Tyr) c.4223C>A (p.Ser1408Tyr) c.4901C>A (p.Ser1634Tyr) c.4550C>A (p.Ser1517Tyr) c.4850C>A (p.Ser1617Tyr)
2	g.120990563C>G	CA348180174	GLI2	c.4598C>G (p.Ser1533Cys) c.4649C>G (p.Ser1550Cys) c.3697C>G (n.3697C>G) c.2544-27C>G (n.2544-27C>G) c.3748C>G (n.3748C>G) c.2493-27C>G (n.2493-27C>G) c.4631C>G (p.Ser1544Cys) c.4508C>G (p.Ser1503Cys) c.4454C>G (p.Ser1485Cys) c.4274C>G (p.Ser1425Cys) c.4223C>G (p.Ser1408Cys) c.4901C>G (p.Ser1634Cys) c.4550C>G (p.Ser1517Cys) c.4850C>G (p.Ser1617Cys)
2	g.120990563C>T	CA348180175	GLI2	c.4598C>T (p.Ser1533Phe) c.4649C>T (p.Ser1550Phe) c.3697C>T (n.3697C>T) c.2544-27C>T (n.2544-27C>T) c.3748C>T (n.3748C>T) c.2493-27C>T (n.2493-27C>T) c.4631C>T (p.Ser1544Phe) c.4508C>T (p.Ser1503Phe) c.4454C>T (p.Ser1485Phe) c.4274C>T (p.Ser1425Phe) c.4223C>T (p.Ser1408Phe) c.4901C>T (p.Ser1634Phe) c.4550C>T (p.Ser1517Phe) c.4850C>T (p.Ser1617Phe)
2	g.120990564C>A	CA428750757	GLI2	c.4599C>A (p.Ser1533=) c.4650C>A (p.Ser1550=) c.3698C>A (n.3698C>A) c.2544-26C>A (n.2544-26C>A) c.3749C>A (n.3749C>A) c.2493-26C>A (n.2493-26C>A) c.4632C>A (p.Ser1544=) c.4509C>A (p.Ser1503=) c.4455C>A (p.Ser1485=) c.4275C>A (p.Ser1425=) c.4224C>A (p.Ser1408=) c.4902C>A (p.Ser1634=) c.4551C>A (p.Ser1517=) c.4851C>A (p.Ser1617=)
2	g.120990564C>G	CA428750758	GLI2	c.4599C>G (p.Ser1533=) c.4650C>G (p.Ser1550=) c.3698C>G (n.3698C>G) c.2544-26C>G (n.2544-26C>G) c.3749C>G (n.3749C>G) c.2493-26C>G (n.2493-26C>G) c.4632C>G (p.Ser1544=) c.4509C>G (p.Ser1503=) c.4455C>G (p.Ser1485=) c.4275C>G (p.Ser1425=) c.4224C>G (p.Ser1408=) c.4902C>G (p.Ser1634=) c.4551C>G (p.Ser1517=) c.4851C>G (p.Ser1617=)
2	g.120990564C>T	CA428750759	GLI2	c.4599C>T (p.Ser1533=) c.4650C>T (p.Ser1550=) c.3698C>T (n.3698C>T) c.2544-26C>T (n.2544-26C>T) c.3749C>T (n.3749C>T) c.2493-26C>T (n.2493-26C>T) c.4632C>T (p.Ser1544=) c.4509C>T (p.Ser1503=) c.4455C>T (p.Ser1485=) c.4275C>T (p.Ser1425=) c.4224C>T (p.Ser1408=) c.4902C>T (p.Ser1634=) c.4551C>T (p.Ser1517=) c.4851C>T (p.Ser1617=)
2	g.120990565T>A	CA348180176	GLI2	c.4600T>A (p.Leu1534Met) c.4651T>A (p.Leu1551Met) c.3699T>A (n.3699T>A) c.2544-25T>A (n.2544-25T>A) c.3750T>A (n.3750T>A) c.2493-25T>A (n.2493-25T>A) c.4633T>A (p.Leu1545Met) c.4510T>A (p.Leu1504Met) c.4456T>A (p.Leu1486Met) c.4276T>A (p.Leu1426Met) c.4225T>A (p.Leu1409Met) c.4903T>A (p.Leu1635Met) c.4552T>A (p.Leu1518Met) c.4852T>A (p.Leu1618Met)
2	g.120990565T>C	CA428750760	GLI2	c.4600T>C (p.Leu1534=) c.4651T>C (p.Leu1551=) c.3699T>C (n.3699T>C) c.2544-25T>C (n.2544-25T>C) c.3750T>C (n.3750T>C) c.2493-25T>C (n.2493-25T>C) c.4633T>C (p.Leu1545=) c.4510T>C (p.Leu1504=) c.4456T>C (p.Leu1486=) c.4276T>C (p.Leu1426=) c.4225T>C (p.Leu1409=) c.4903T>C (p.Leu1635=) c.4552T>C (p.Leu1518=) c.4852T>C (p.Leu1618=)	dbSNP
2	g.120990565T>G	CA348180177	GLI2	c.4600T>G (p.Leu1534Val) c.4651T>G (p.Leu1551Val) c.3699T>G (n.3699T>G) c.2544-25T>G (n.2544-25T>G) c.3750T>G (n.3750T>G) c.2493-25T>G (n.2493-25T>G) c.4633T>G (p.Leu1545Val) c.4510T>G (p.Leu1504Val) c.4456T>G (p.Leu1486Val) c.4276T>G (p.Leu1426Val) c.4225T>G (p.Leu1409Val) c.4903T>G (p.Leu1635Val) c.4552T>G (p.Leu1518Val) c.4852T>G (p.Leu1618Val)
2	g.120990565T=	CA1283796179	GLI2	c.4600T= (p.Leu1534=) c.4651T= (p.Leu1551=) c.3699T= (n.3699T=) c.2544-25T= (n.2544-25T=) c.3750T= (n.3750T=) c.2493-25T= (n.2493-25T=) c.4633T= (p.Leu1545=) c.4510T= (p.Leu1504=) c.4456T= (p.Leu1486=) c.4276T= (p.Leu1426=) c.4225T= (p.Leu1409=) c.4903T= (p.Leu1635=) c.4552T= (p.Leu1518=) c.4852T= (p.Leu1618=)
2	g.120990566T>A	CA348180178	GLI2	c.4601T>A (p.Leu1534Ter) c.4652T>A (p.Leu1551Ter) c.3700T>A (n.3700T>A) c.2544-24T>A (n.2544-24T>A) c.3751T>A (n.3751T>A) c.2493-24T>A (n.2493-24T>A) c.4634T>A (p.Leu1545Ter) c.4511T>A (p.Leu1504Ter) c.4457T>A (p.Leu1486Ter) c.4277T>A (p.Leu1426Ter) c.4226T>A (p.Leu1409Ter) c.4904T>A (p.Leu1635Ter) c.4553T>A (p.Leu1518Ter) c.4853T>A (p.Leu1618Ter)
2	g.120990566T>C	CA348180179	GLI2	c.4601T>C (p.Leu1534Ser) c.4652T>C (p.Leu1551Ser) c.3700T>C (n.3700T>C) c.2544-24T>C (n.2544-24T>C) c.3751T>C (n.3751T>C) c.2493-24T>C (n.2493-24T>C) c.4634T>C (p.Leu1545Ser) c.4511T>C (p.Leu1504Ser) c.4457T>C (p.Leu1486Ser) c.4277T>C (p.Leu1426Ser) c.4226T>C (p.Leu1409Ser) c.4904T>C (p.Leu1635Ser) c.4553T>C (p.Leu1518Ser) c.4853T>C (p.Leu1618Ser)	dbSNP gnomAD v4
2	g.120990566T>G	CA348180180	GLI2	c.4601T>G (p.Leu1534Trp) c.4652T>G (p.Leu1551Trp) c.3700T>G (n.3700T>G) c.2544-24T>G (n.2544-24T>G) c.3751T>G (n.3751T>G) c.2493-24T>G (n.2493-24T>G) c.4634T>G (p.Leu1545Trp) c.4511T>G (p.Leu1504Trp) c.4457T>G (p.Leu1486Trp) c.4277T>G (p.Leu1426Trp) c.4226T>G (p.Leu1409Trp) c.4904T>G (p.Leu1635Trp) c.4553T>G (p.Leu1518Trp) c.4853T>G (p.Leu1618Trp)
2	g.120990566T=	CA1283796180	GLI2	c.4601T= (p.Leu1534=) c.4652T= (p.Leu1551=) c.3700T= (n.3700T=) c.2544-24T= (n.2544-24T=) c.3751T= (n.3751T=) c.2493-24T= (n.2493-24T=) c.4634T= (p.Leu1545=) c.4511T= (p.Leu1504=) c.4457T= (p.Leu1486=) c.4277T= (p.Leu1426=) c.4226T= (p.Leu1409=) c.4904T= (p.Leu1635=) c.4553T= (p.Leu1518=) c.4853T= (p.Leu1618=)
2	g.120990567G>A	CA428750761	GLI2	c.4602G>A (p.Leu1534=) c.4653G>A (p.Leu1551=) c.3701G>A (n.3701G>A) c.2544-23G>A (n.2544-23G>A) c.3752G>A (n.3752G>A) c.2493-23G>A (n.2493-23G>A) c.4635G>A (p.Leu1545=) c.4512G>A (p.Leu1504=) c.4458G>A (p.Leu1486=) c.4278G>A (p.Leu1426=) c.4227G>A (p.Leu1409=) c.4905G>A (p.Leu1635=) c.4554G>A (p.Leu1518=) c.4854G>A (p.Leu1618=)	gnomAD v4
2	g.120990567G>C	CA348180182	GLI2	c.4602G>C (p.Leu1534Phe) c.4653G>C (p.Leu1551Phe) c.3701G>C (n.3701G>C) c.2544-23G>C (n.2544-23G>C) c.3752G>C (n.3752G>C) c.2493-23G>C (n.2493-23G>C) c.4635G>C (p.Leu1545Phe) c.4512G>C (p.Leu1504Phe) c.4458G>C (p.Leu1486Phe) c.4278G>C (p.Leu1426Phe) c.4227G>C (p.Leu1409Phe) c.4905G>C (p.Leu1635Phe) c.4554G>C (p.Leu1518Phe) c.4854G>C (p.Leu1618Phe)
2	g.120990567G>T	CA348180181	GLI2	c.4602G>T (p.Leu1534Phe) c.4653G>T (p.Leu1551Phe) c.3701G>T (n.3701G>T) c.2544-23G>T (n.2544-23G>T) c.3752G>T (n.3752G>T) c.2493-23G>T (n.2493-23G>T) c.4635G>T (p.Leu1545Phe) c.4512G>T (p.Leu1504Phe) c.4458G>T (p.Leu1486Phe) c.4278G>T (p.Leu1426Phe) c.4227G>T (p.Leu1409Phe) c.4905G>T (p.Leu1635Phe) c.4554G>T (p.Leu1518Phe) c.4854G>T (p.Leu1618Phe)
2	g.120990568A=	CA1283796181	GLI2	c.4603A= (p.Thr1535=) c.4654A= (p.Thr1552=) c.3702A= (n.3702A=) c.2544-22A= (n.2544-22A=) c.3753A= (n.3753A=) c.2493-22A= (n.2493-22A=) c.4636A= (p.Thr1546=) c.4513A= (p.Thr1505=) c.4459A= (p.Thr1487=) c.4279A= (p.Thr1427=) c.4228A= (p.Thr1410=) c.4906A= (p.Thr1636=) c.4555A= (p.Thr1519=) c.4855A= (p.Thr1619=)
2	g.120990568A>C	CA348180183	GLI2	c.4603A>C (p.Thr1535Pro) c.4654A>C (p.Thr1552Pro) c.3702A>C (n.3702A>C) c.2544-22A>C (n.2544-22A>C) c.3753A>C (n.3753A>C) c.2493-22A>C (n.2493-22A>C) c.4636A>C (p.Thr1546Pro) c.4513A>C (p.Thr1505Pro) c.4459A>C (p.Thr1487Pro) c.4279A>C (p.Thr1427Pro) c.4228A>C (p.Thr1410Pro) c.4906A>C (p.Thr1636Pro) c.4555A>C (p.Thr1519Pro) c.4855A>C (p.Thr1619Pro)
2	g.120990568A>G	CA348180184	GLI2	c.4603A>G (p.Thr1535Ala) c.4654A>G (p.Thr1552Ala) c.3702A>G (n.3702A>G) c.2544-22A>G (n.2544-22A>G) c.3753A>G (n.3753A>G) c.2493-22A>G (n.2493-22A>G) c.4636A>G (p.Thr1546Ala) c.4513A>G (p.Thr1505Ala) c.4459A>G (p.Thr1487Ala) c.4279A>G (p.Thr1427Ala) c.4228A>G (p.Thr1410Ala) c.4906A>G (p.Thr1636Ala) c.4555A>G (p.Thr1519Ala) c.4855A>G (p.Thr1619Ala)	dbSNP gnomAD v2 gnomAD v4
2	g.120990568A>T	CA16043648	GLI2	c.4603A>T (p.Thr1535Ser) c.4654A>T (p.Thr1552Ser) c.3702A>T (n.3702A>T) c.2544-22A>T (n.2544-22A>T) c.3753A>T (n.3753A>T) c.2493-22A>T (n.2493-22A>T) c.4636A>T (p.Thr1546Ser) c.4513A>T (p.Thr1505Ser) c.4459A>T (p.Thr1487Ser) c.4279A>T (p.Thr1427Ser) c.4228A>T (p.Thr1410Ser) c.4906A>T (p.Thr1636Ser) c.4555A>T (p.Thr1519Ser) c.4855A>T (p.Thr1619Ser)	ClinVar dbSNP
2	g.120990569C>A	CA348180185	GLI2	c.4604C>A (p.Thr1535Asn) c.4655C>A (p.Thr1552Asn) c.3703C>A (n.3703C>A) c.2544-21C>A (n.2544-21C>A) c.3754C>A (n.3754C>A) c.2493-21C>A (n.2493-21C>A) c.4637C>A (p.Thr1546Asn) c.4514C>A (p.Thr1505Asn) c.4460C>A (p.Thr1487Asn) c.4280C>A (p.Thr1427Asn) c.4229C>A (p.Thr1410Asn) c.4907C>A (p.Thr1636Asn) c.4556C>A (p.Thr1519Asn) c.4856C>A (p.Thr1619Asn)
2	g.120990569C>G	CA348180186	GLI2	c.4604C>G (p.Thr1535Ser) c.4655C>G (p.Thr1552Ser) c.3703C>G (n.3703C>G) c.2544-21C>G (n.2544-21C>G) c.3754C>G (n.3754C>G) c.2493-21C>G (n.2493-21C>G) c.4637C>G (p.Thr1546Ser) c.4514C>G (p.Thr1505Ser) c.4460C>G (p.Thr1487Ser) c.4280C>G (p.Thr1427Ser) c.4229C>G (p.Thr1410Ser) c.4907C>G (p.Thr1636Ser) c.4556C>G (p.Thr1519Ser) c.4856C>G (p.Thr1619Ser)
2	g.120990569C>T	CA348180187	GLI2	c.4604C>T (p.Thr1535Ile) c.4655C>T (p.Thr1552Ile) c.3703C>T (n.3703C>T) c.2544-21C>T (n.2544-21C>T) c.3754C>T (n.3754C>T) c.2493-21C>T (n.2493-21C>T) c.4637C>T (p.Thr1546Ile) c.4514C>T (p.Thr1505Ile) c.4460C>T (p.Thr1487Ile) c.4280C>T (p.Thr1427Ile) c.4229C>T (p.Thr1410Ile) c.4907C>T (p.Thr1636Ile) c.4556C>T (p.Thr1519Ile) c.4856C>T (p.Thr1619Ile)
2	g.120990570C>A	CA428750763	GLI2	c.4605C>A (p.Thr1535=) c.4656C>A (p.Thr1552=) c.3704C>A (n.3704C>A) c.2544-20C>A (n.2544-20C>A) c.3755C>A (n.3755C>A) c.2493-20C>A (n.2493-20C>A) c.4638C>A (p.Thr1546=) c.4515C>A (p.Thr1505=) c.4461C>A (p.Thr1487=) c.4281C>A (p.Thr1427=) c.4230C>A (p.Thr1410=) c.4908C>A (p.Thr1636=) c.4557C>A (p.Thr1519=) c.4857C>A (p.Thr1619=)
2	g.120990570C=	CA1283796182	GLI2	c.4605C= (p.Thr1535=) c.4656C= (p.Thr1552=) c.3704C= (n.3704C=) c.2544-20C= (n.2544-20C=) c.3755C= (n.3755C=) c.2493-20C= (n.2493-20C=) c.4638C= (p.Thr1546=) c.4515C= (p.Thr1505=) c.4461C= (p.Thr1487=) c.4281C= (p.Thr1427=) c.4230C= (p.Thr1410=) c.4908C= (p.Thr1636=) c.4557C= (p.Thr1519=) c.4857C= (p.Thr1619=)
2	g.120990570C>G	CA428750762	GLI2	c.4605C>G (p.Thr1535=) c.4656C>G (p.Thr1552=) c.3704C>G (n.3704C>G) c.2544-20C>G (n.2544-20C>G) c.3755C>G (n.3755C>G) c.2493-20C>G (n.2493-20C>G) c.4638C>G (p.Thr1546=) c.4515C>G (p.Thr1505=) c.4461C>G (p.Thr1487=) c.4281C>G (p.Thr1427=) c.4230C>G (p.Thr1410=) c.4908C>G (p.Thr1636=) c.4557C>G (p.Thr1519=) c.4857C>G (p.Thr1619=)
2	g.120990570C>T	CA54386588	GLI2	c.4605C>T (p.Thr1535=) c.4656C>T (p.Thr1552=) c.3704C>T (n.3704C>T) c.2544-20C>T (n.2544-20C>T) c.3755C>T (n.3755C>T) c.2493-20C>T (n.2493-20C>T) c.4638C>T (p.Thr1546=) c.4515C>T (p.Thr1505=) c.4461C>T (p.Thr1487=) c.4281C>T (p.Thr1427=) c.4230C>T (p.Thr1410=) c.4908C>T (p.Thr1636=) c.4557C>T (p.Thr1519=) c.4857C>T (p.Thr1619=)	dbSNP gnomAD v3 gnomAD v4
2	g.120990571C>A	CA348180188	GLI2	c.4606C>A (p.Leu1536Met) c.4657C>A (p.Leu1553Met) c.3705C>A (n.3705C>A) c.2544-19C>A (n.2544-19C>A) c.3756C>A (n.3756C>A) c.2493-19C>A (n.2493-19C>A) c.4639C>A (p.Leu1547Met) c.4516C>A (p.Leu1506Met) c.4462C>A (p.Leu1488Met) c.4282C>A (p.Leu1428Met) c.4231C>A (p.Leu1411Met) c.4909C>A (p.Leu1637Met) c.4558C>A (p.Leu1520Met) c.4858C>A (p.Leu1620Met)
2	g.120990571C=	CA1283796183	GLI2	c.4606C= (p.Leu1536=) c.4657C= (p.Leu1553=) c.3705C= (n.3705C=) c.2544-19C= (n.2544-19C=) c.3756C= (n.3756C=) c.2493-19C= (n.2493-19C=) c.4639C= (p.Leu1547=) c.4516C= (p.Leu1506=) c.4462C= (p.Leu1488=) c.4282C= (p.Leu1428=) c.4231C= (p.Leu1411=) c.4909C= (p.Leu1637=) c.4558C= (p.Leu1520=) c.4858C= (p.Leu1620=)
2	g.120990571C>G	CA348180189	GLI2	c.4606C>G (p.Leu1536Val) c.4657C>G (p.Leu1553Val) c.3705C>G (n.3705C>G) c.2544-19C>G (n.2544-19C>G) c.3756C>G (n.3756C>G) c.2493-19C>G (n.2493-19C>G) c.4639C>G (p.Leu1547Val) c.4516C>G (p.Leu1506Val) c.4462C>G (p.Leu1488Val) c.4282C>G (p.Leu1428Val) c.4231C>G (p.Leu1411Val) c.4909C>G (p.Leu1637Val) c.4558C>G (p.Leu1520Val) c.4858C>G (p.Leu1620Val)
2	g.120990571C>T	CA54386593	GLI2	c.4606C>T (p.Leu1536=) c.4657C>T (p.Leu1553=) c.3705C>T (n.3705C>T) c.2544-19C>T (n.2544-19C>T) c.3756C>T (n.3756C>T) c.2493-19C>T (n.2493-19C>T) c.4639C>T (p.Leu1547=) c.4516C>T (p.Leu1506=) c.4462C>T (p.Leu1488=) c.4282C>T (p.Leu1428=) c.4231C>T (p.Leu1411=) c.4909C>T (p.Leu1637=) c.4558C>T (p.Leu1520=) c.4858C>T (p.Leu1620=)	dbSNP gnomAD v4
2	g.120990572T>A	CA348180190	GLI2	c.4607T>A (p.Leu1536Gln) c.4658T>A (p.Leu1553Gln) c.3706T>A (n.3706T>A) c.2544-18T>A (n.2544-18T>A) c.3757T>A (n.3757T>A) c.2493-18T>A (n.2493-18T>A) c.4640T>A (p.Leu1547Gln) c.4517T>A (p.Leu1506Gln) c.4463T>A (p.Leu1488Gln) c.4283T>A (p.Leu1428Gln) c.4232T>A (p.Leu1411Gln) c.4910T>A (p.Leu1637Gln) c.4559T>A (p.Leu1520Gln) c.4859T>A (p.Leu1620Gln)
2	g.120990572T>C	CA348180191	GLI2	c.4607T>C (p.Leu1536Pro) c.4658T>C (p.Leu1553Pro) c.3706T>C (n.3706T>C) c.2544-18T>C (n.2544-18T>C) c.3757T>C (n.3757T>C) c.2493-18T>C (n.2493-18T>C) c.4640T>C (p.Leu1547Pro) c.4517T>C (p.Leu1506Pro) c.4463T>C (p.Leu1488Pro) c.4283T>C (p.Leu1428Pro) c.4232T>C (p.Leu1411Pro) c.4910T>C (p.Leu1637Pro) c.4559T>C (p.Leu1520Pro) c.4859T>C (p.Leu1620Pro)
2	g.120990572T>G	CA348180192	GLI2	c.4607T>G (p.Leu1536Arg) c.4658T>G (p.Leu1553Arg) c.3706T>G (n.3706T>G) c.2544-18T>G (n.2544-18T>G) c.3757T>G (n.3757T>G) c.2493-18T>G (n.2493-18T>G) c.4640T>G (p.Leu1547Arg) c.4517T>G (p.Leu1506Arg) c.4463T>G (p.Leu1488Arg) c.4283T>G (p.Leu1428Arg) c.4232T>G (p.Leu1411Arg) c.4910T>G (p.Leu1637Arg) c.4559T>G (p.Leu1520Arg) c.4859T>G (p.Leu1620Arg)
2	g.120990573G>A	CA428750764	GLI2	c.4608G>A (p.Leu1536=) c.4659G>A (p.Leu1553=) c.3707G>A (n.3707G>A) c.2544-17G>A (n.2544-17G>A) c.3758G>A (n.3758G>A) c.2493-17G>A (n.2493-17G>A) c.4641G>A (p.Leu1547=) c.4518G>A (p.Leu1506=) c.4464G>A (p.Leu1488=) c.4284G>A (p.Leu1428=) c.4233G>A (p.Leu1411=) c.4911G>A (p.Leu1637=) c.4560G>A (p.Leu1520=) c.4860G>A (p.Leu1620=)	gnomAD v4
2	g.120990573G>C	CA428750765	GLI2	c.4608G>C (p.Leu1536=) c.4659G>C (p.Leu1553=) c.3707G>C (n.3707G>C) c.2544-17G>C (n.2544-17G>C) c.3758G>C (n.3758G>C) c.2493-17G>C (n.2493-17G>C) c.4641G>C (p.Leu1547=) c.4518G>C (p.Leu1506=) c.4464G>C (p.Leu1488=) c.4284G>C (p.Leu1428=) c.4233G>C (p.Leu1411=) c.4911G>C (p.Leu1637=) c.4560G>C (p.Leu1520=) c.4860G>C (p.Leu1620=)	dbSNP gnomAD v2 gnomAD v4
2	g.120990573G=	CA1283796184	GLI2	c.4608G= (p.Leu1536=) c.4659G= (p.Leu1553=) c.3707G= (n.3707G=) c.2544-17G= (n.2544-17G=) c.3758G= (n.3758G=) c.2493-17G= (n.2493-17G=) c.4641G= (p.Leu1547=) c.4518G= (p.Leu1506=) c.4464G= (p.Leu1488=) c.4284G= (p.Leu1428=) c.4233G= (p.Leu1411=) c.4911G= (p.Leu1637=) c.4560G= (p.Leu1520=) c.4860G= (p.Leu1620=)
2	g.120990573G>T	CA428750766	GLI2	c.4608G>T (p.Leu1536=) c.4659G>T (p.Leu1553=) c.3707G>T (n.3707G>T) c.2544-17G>T (n.2544-17G>T) c.3758G>T (n.3758G>T) c.2493-17G>T (n.2493-17G>T) c.4641G>T (p.Leu1547=) c.4518G>T (p.Leu1506=) c.4464G>T (p.Leu1488=) c.4284G>T (p.Leu1428=) c.4233G>T (p.Leu1411=) c.4911G>T (p.Leu1637=) c.4560G>T (p.Leu1520=) c.4860G>T (p.Leu1620=)
2	g.120990574C>A	CA348180195	GLI2	c.4609C>A (p.Pro1537Thr) c.4660C>A (p.Pro1554Thr) c.3708C>A (n.3708C>A) c.2544-16C>A (n.2544-16C>A) c.3759C>A (n.3759C>A) c.2493-16C>A (n.2493-16C>A) c.4642C>A (p.Pro1548Thr) c.4519C>A (p.Pro1507Thr) c.4465C>A (p.Pro1489Thr) c.4285C>A (p.Pro1429Thr) c.4234C>A (p.Pro1412Thr) c.4912C>A (p.Pro1638Thr) c.4561C>A (p.Pro1521Thr) c.4861C>A (p.Pro1621Thr)	gnomAD v4
2	g.120990574C>G	CA348180194	GLI2	c.4609C>G (p.Pro1537Ala) c.4660C>G (p.Pro1554Ala) c.3708C>G (n.3708C>G) c.2544-16C>G (n.2544-16C>G) c.3759C>G (n.3759C>G) c.2493-16C>G (n.2493-16C>G) c.4642C>G (p.Pro1548Ala) c.4519C>G (p.Pro1507Ala) c.4465C>G (p.Pro1489Ala) c.4285C>G (p.Pro1429Ala) c.4234C>G (p.Pro1412Ala) c.4912C>G (p.Pro1638Ala) c.4561C>G (p.Pro1521Ala) c.4861C>G (p.Pro1621Ala)
2	g.120990574C>T	CA348180193	GLI2	c.4609C>T (p.Pro1537Ser) c.4660C>T (p.Pro1554Ser) c.3708C>T (n.3708C>T) c.2544-16C>T (n.2544-16C>T) c.3759C>T (n.3759C>T) c.2493-16C>T (n.2493-16C>T) c.4642C>T (p.Pro1548Ser) c.4519C>T (p.Pro1507Ser) c.4465C>T (p.Pro1489Ser) c.4285C>T (p.Pro1429Ser) c.4234C>T (p.Pro1412Ser) c.4912C>T (p.Pro1638Ser) c.4561C>T (p.Pro1521Ser) c.4861C>T (p.Pro1621Ser)	COSMIC
2	g.120990575C>A	CA348180196	GLI2	c.4610C>A (p.Pro1537His) c.4661C>A (p.Pro1554His) c.3709C>A (n.3709C>A) c.2544-15C>A (n.2544-15C>A) c.3760C>A (n.3760C>A) c.2493-15C>A (n.2493-15C>A) c.4643C>A (p.Pro1548His) c.4520C>A (p.Pro1507His) c.4466C>A (p.Pro1489His) c.4286C>A (p.Pro1429His) c.4235C>A (p.Pro1412His) c.4913C>A (p.Pro1638His) c.4562C>A (p.Pro1521His) c.4862C>A (p.Pro1621His)	dbSNP
2	g.120990575C=	CA1283796185	GLI2	c.4610C= (p.Pro1537=) c.4661C= (p.Pro1554=) c.3709C= (n.3709C=) c.2544-15C= (n.2544-15C=) c.3760C= (n.3760C=) c.2493-15C= (n.2493-15C=) c.4643C= (p.Pro1548=) c.4520C= (p.Pro1507=) c.4466C= (p.Pro1489=) c.4286C= (p.Pro1429=) c.4235C= (p.Pro1412=) c.4913C= (p.Pro1638=) c.4562C= (p.Pro1521=) c.4862C= (p.Pro1621=)
2	g.120990575C>G	CA348180197	GLI2	c.4610C>G (p.Pro1537Arg) c.4661C>G (p.Pro1554Arg) c.3709C>G (n.3709C>G) c.2544-15C>G (n.2544-15C>G) c.3760C>G (n.3760C>G) c.2493-15C>G (n.2493-15C>G) c.4643C>G (p.Pro1548Arg) c.4520C>G (p.Pro1507Arg) c.4466C>G (p.Pro1489Arg) c.4286C>G (p.Pro1429Arg) c.4235C>G (p.Pro1412Arg) c.4913C>G (p.Pro1638Arg) c.4562C>G (p.Pro1521Arg) c.4862C>G (p.Pro1621Arg)	COSMIC
2	g.120990575C>T	CA1852676	GLI2	c.4610C>T (p.Pro1537Leu) c.4661C>T (p.Pro1554Leu) c.3709C>T (n.3709C>T) c.2544-15C>T (n.2544-15C>T) c.3760C>T (n.3760C>T) c.2493-15C>T (n.2493-15C>T) c.4643C>T (p.Pro1548Leu) c.4520C>T (p.Pro1507Leu) c.4466C>T (p.Pro1489Leu) c.4286C>T (p.Pro1429Leu) c.4235C>T (p.Pro1412Leu) c.4913C>T (p.Pro1638Leu) c.4562C>T (p.Pro1521Leu) c.4862C>T (p.Pro1621Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.120990576C>A	CA428750767	GLI2	c.4611C>A (p.Pro1537=) c.4662C>A (p.Pro1554=) c.3710C>A (n.3710C>A) c.2544-14C>A (n.2544-14C>A) c.3761C>A (n.3761C>A) c.2493-14C>A (n.2493-14C>A) c.4644C>A (p.Pro1548=) c.4521C>A (p.Pro1507=) c.4467C>A (p.Pro1489=) c.4287C>A (p.Pro1429=) c.4236C>A (p.Pro1412=) c.4914C>A (p.Pro1638=) c.4563C>A (p.Pro1521=) c.4863C>A (p.Pro1621=)
2	g.120990576C=	CA1283796186	GLI2	c.4611C= (p.Pro1537=) c.4662C= (p.Pro1554=) c.3710C= (n.3710C=) c.2544-14C= (n.2544-14C=) c.3761C= (n.3761C=) c.2493-14C= (n.2493-14C=) c.4644C= (p.Pro1548=) c.4521C= (p.Pro1507=) c.4467C= (p.Pro1489=) c.4287C= (p.Pro1429=) c.4236C= (p.Pro1412=) c.4914C= (p.Pro1638=) c.4563C= (p.Pro1521=) c.4863C= (p.Pro1621=)
2	g.120990576C>G	CA428750768	GLI2	c.4611C>G (p.Pro1537=) c.4662C>G (p.Pro1554=) c.3710C>G (n.3710C>G) c.2544-14C>G (n.2544-14C>G) c.3761C>G (n.3761C>G) c.2493-14C>G (n.2493-14C>G) c.4644C>G (p.Pro1548=) c.4521C>G (p.Pro1507=) c.4467C>G (p.Pro1489=) c.4287C>G (p.Pro1429=) c.4236C>G (p.Pro1412=) c.4914C>G (p.Pro1638=) c.4563C>G (p.Pro1521=) c.4863C>G (p.Pro1621=)
2	g.120990576C>T	CA428750769	GLI2	c.4611C>T (p.Pro1537=) c.4662C>T (p.Pro1554=) c.3710C>T (n.3710C>T) c.2544-14C>T (n.2544-14C>T) c.3761C>T (n.3761C>T) c.2493-14C>T (n.2493-14C>T) c.4644C>T (p.Pro1548=) c.4521C>T (p.Pro1507=) c.4467C>T (p.Pro1489=) c.4287C>T (p.Pro1429=) c.4236C>T (p.Pro1412=) c.4914C>T (p.Pro1638=) c.4563C>T (p.Pro1521=) c.4863C>T (p.Pro1621=)	dbSNP
2	g.120990577T>A	CA348180198	GLI2	c.4612T>A (p.Ser1538Thr) c.4663T>A (p.Ser1555Thr) c.3711T>A (n.3711T>A) c.2544-13T>A (n.2544-13T>A) c.3762T>A (n.3762T>A) c.2493-13T>A (n.2493-13T>A) c.4645T>A (p.Ser1549Thr) c.4522T>A (p.Ser1508Thr) c.4468T>A (p.Ser1490Thr) c.4288T>A (p.Ser1430Thr) c.4237T>A (p.Ser1413Thr) c.4915T>A (p.Ser1639Thr) c.4564T>A (p.Ser1522Thr) c.4864T>A (p.Ser1622Thr)
2	g.120990577T>C	CA201043	GLI2	c.4612T>C (p.Ser1538Pro) c.4663T>C (p.Ser1555Pro) c.3711T>C (n.3711T>C) c.2544-13T>C (n.2544-13T>C) c.3762T>C (n.3762T>C) c.2493-13T>C (n.2493-13T>C) c.4645T>C (p.Ser1549Pro) c.4522T>C (p.Ser1508Pro) c.4468T>C (p.Ser1490Pro) c.4288T>C (p.Ser1430Pro) c.4237T>C (p.Ser1413Pro) c.4915T>C (p.Ser1639Pro) c.4564T>C (p.Ser1522Pro) c.4864T>C (p.Ser1622Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.120990577T>G	CA348180199	GLI2	c.4612T>G (p.Ser1538Ala) c.4663T>G (p.Ser1555Ala) c.3711T>G (n.3711T>G) c.2544-13T>G (n.2544-13T>G) c.3762T>G (n.3762T>G) c.2493-13T>G (n.2493-13T>G) c.4645T>G (p.Ser1549Ala) c.4522T>G (p.Ser1508Ala) c.4468T>G (p.Ser1490Ala) c.4288T>G (p.Ser1430Ala) c.4237T>G (p.Ser1413Ala) c.4915T>G (p.Ser1639Ala) c.4564T>G (p.Ser1522Ala) c.4864T>G (p.Ser1622Ala)
2	g.120990577T=	CA1283796187	GLI2	c.4612T= (p.Ser1538=) c.4663T= (p.Ser1555=) c.3711T= (n.3711T=) c.2544-13T= (n.2544-13T=) c.3762T= (n.3762T=) c.2493-13T= (n.2493-13T=) c.4645T= (p.Ser1549=) c.4522T= (p.Ser1508=) c.4468T= (p.Ser1490=) c.4288T= (p.Ser1430=) c.4237T= (p.Ser1413=) c.4915T= (p.Ser1639=) c.4564T= (p.Ser1522=) c.4864T= (p.Ser1622=)
2	g.120990578C>A	CA348180200	GLI2	c.4613C>A (p.Ser1538Tyr) c.4664C>A (p.Ser1555Tyr) c.3712C>A (n.3712C>A) c.2544-12C>A (n.2544-12C>A) c.3763C>A (n.3763C>A) c.2493-12C>A (n.2493-12C>A) c.4646C>A (p.Ser1549Tyr) c.4523C>A (p.Ser1508Tyr) c.4469C>A (p.Ser1490Tyr) c.4289C>A (p.Ser1430Tyr) c.4238C>A (p.Ser1413Tyr) c.4916C>A (p.Ser1639Tyr) c.4565C>A (p.Ser1522Tyr) c.4865C>A (p.Ser1622Tyr)
2	g.120990578C>G	CA348180201	GLI2	c.4613C>G (p.Ser1538Cys) c.4664C>G (p.Ser1555Cys) c.3712C>G (n.3712C>G) c.2544-12C>G (n.2544-12C>G) c.3763C>G (n.3763C>G) c.2493-12C>G (n.2493-12C>G) c.4646C>G (p.Ser1549Cys) c.4523C>G (p.Ser1508Cys) c.4469C>G (p.Ser1490Cys) c.4289C>G (p.Ser1430Cys) c.4238C>G (p.Ser1413Cys) c.4916C>G (p.Ser1639Cys) c.4565C>G (p.Ser1522Cys) c.4865C>G (p.Ser1622Cys)
2	g.120990578C>T	CA348180202	GLI2	c.4613C>T (p.Ser1538Phe) c.4664C>T (p.Ser1555Phe) c.3712C>T (n.3712C>T) c.2544-12C>T (n.2544-12C>T) c.3763C>T (n.3763C>T) c.2493-12C>T (n.2493-12C>T) c.4646C>T (p.Ser1549Phe) c.4523C>T (p.Ser1508Phe) c.4469C>T (p.Ser1490Phe) c.4289C>T (p.Ser1430Phe) c.4238C>T (p.Ser1413Phe) c.4916C>T (p.Ser1639Phe) c.4565C>T (p.Ser1522Phe) c.4865C>T (p.Ser1622Phe)	gnomAD v4
2	g.120990579C>A	CA428750770	GLI2	c.4614C>A (p.Ser1538=) c.4665C>A (p.Ser1555=) c.3713C>A (n.3713C>A) c.2544-11C>A (n.2544-11C>A) c.3764C>A (n.3764C>A) c.2493-11C>A (n.2493-11C>A) c.4647C>A (p.Ser1549=) c.4524C>A (p.Ser1508=) c.4470C>A (p.Ser1490=) c.4290C>A (p.Ser1430=) c.4239C>A (p.Ser1413=) c.4917C>A (p.Ser1639=) c.4566C>A (p.Ser1522=) c.4866C>A (p.Ser1622=)
2	g.120990579C>G	CA428750771	GLI2	c.4614C>G (p.Ser1538=) c.4665C>G (p.Ser1555=) c.3713C>G (n.3713C>G) c.2544-11C>G (n.2544-11C>G) c.3764C>G (n.3764C>G) c.2493-11C>G (n.2493-11C>G) c.4647C>G (p.Ser1549=) c.4524C>G (p.Ser1508=) c.4470C>G (p.Ser1490=) c.4290C>G (p.Ser1430=) c.4239C>G (p.Ser1413=) c.4917C>G (p.Ser1639=) c.4566C>G (p.Ser1522=) c.4866C>G (p.Ser1622=)
2	g.120990579C>T	CA428750772	GLI2	c.4614C>T (p.Ser1538=) c.4665C>T (p.Ser1555=) c.3713C>T (n.3713C>T) c.2544-11C>T (n.2544-11C>T) c.3764C>T (n.3764C>T) c.2493-11C>T (n.2493-11C>T) c.4647C>T (p.Ser1549=) c.4524C>T (p.Ser1508=) c.4470C>T (p.Ser1490=) c.4290C>T (p.Ser1430=) c.4239C>T (p.Ser1413=) c.4917C>T (p.Ser1639=) c.4566C>T (p.Ser1522=) c.4866C>T (p.Ser1622=)
2	g.120990580A>C	CA348180203	GLI2	c.4615A>C (p.Ile1539Leu) c.4666A>C (p.Ile1556Leu) c.3714A>C (n.3714A>C) c.2544-10A>C (n.2544-10A>C) c.3765A>C (n.3765A>C) c.2493-10A>C (n.2493-10A>C) c.4648A>C (p.Ile1550Leu) c.4525A>C (p.Ile1509Leu) c.4471A>C (p.Ile1491Leu) c.4291A>C (p.Ile1431Leu) c.4240A>C (p.Ile1414Leu) c.4918A>C (p.Ile1640Leu) c.4567A>C (p.Ile1523Leu) c.4867A>C (p.Ile1623Leu)
2	g.120990580A>G	CA348180204	GLI2	c.4615A>G (p.Ile1539Val) c.4666A>G (p.Ile1556Val) c.3714A>G (n.3714A>G) c.2544-10A>G (n.2544-10A>G) c.3765A>G (n.3765A>G) c.2493-10A>G (n.2493-10A>G) c.4648A>G (p.Ile1550Val) c.4525A>G (p.Ile1509Val) c.4471A>G (p.Ile1491Val) c.4291A>G (p.Ile1431Val) c.4240A>G (p.Ile1414Val) c.4918A>G (p.Ile1640Val) c.4567A>G (p.Ile1523Val) c.4867A>G (p.Ile1623Val)
2	g.120990580A>T	CA348180205	GLI2	c.4615A>T (p.Ile1539Phe) c.4666A>T (p.Ile1556Phe) c.3714A>T (n.3714A>T) c.2544-10A>T (n.2544-10A>T) c.3765A>T (n.3765A>T) c.2493-10A>T (n.2493-10A>T) c.4648A>T (p.Ile1550Phe) c.4525A>T (p.Ile1509Phe) c.4471A>T (p.Ile1491Phe) c.4291A>T (p.Ile1431Phe) c.4240A>T (p.Ile1414Phe) c.4918A>T (p.Ile1640Phe) c.4567A>T (p.Ile1523Phe) c.4867A>T (p.Ile1623Phe)
2	g.120990581T>A	CA348180208	GLI2	c.4616T>A (p.Ile1539Asn) c.4667T>A (p.Ile1556Asn) c.3715T>A (n.3715T>A) c.2544-9T>A (n.2544-9T>A) c.3766T>A (n.3766T>A) c.2493-9T>A (n.2493-9T>A) c.4649T>A (p.Ile1550Asn) c.4526T>A (p.Ile1509Asn) c.4472T>A (p.Ile1491Asn) c.4292T>A (p.Ile1431Asn) c.4241T>A (p.Ile1414Asn) c.4919T>A (p.Ile1640Asn) c.4568T>A (p.Ile1523Asn) c.4868T>A (p.Ile1623Asn)
2	g.120990581T>C	CA348180207	GLI2	c.4616T>C (p.Ile1539Thr) c.4667T>C (p.Ile1556Thr) c.3715T>C (n.3715T>C) c.2544-9T>C (n.2544-9T>C) c.3766T>C (n.3766T>C) c.2493-9T>C (n.2493-9T>C) c.4649T>C (p.Ile1550Thr) c.4526T>C (p.Ile1509Thr) c.4472T>C (p.Ile1491Thr) c.4292T>C (p.Ile1431Thr) c.4241T>C (p.Ile1414Thr) c.4919T>C (p.Ile1640Thr) c.4568T>C (p.Ile1523Thr) c.4868T>C (p.Ile1623Thr)
2	g.120990581T>G	CA348180206	GLI2	c.4616T>G (p.Ile1539Ser) c.4667T>G (p.Ile1556Ser) c.3715T>G (n.3715T>G) c.2544-9T>G (n.2544-9T>G) c.3766T>G (n.3766T>G) c.2493-9T>G (n.2493-9T>G) c.4649T>G (p.Ile1550Ser) c.4526T>G (p.Ile1509Ser) c.4472T>G (p.Ile1491Ser) c.4292T>G (p.Ile1431Ser) c.4241T>G (p.Ile1414Ser) c.4919T>G (p.Ile1640Ser) c.4568T>G (p.Ile1523Ser) c.4868T>G (p.Ile1623Ser)
2	g.120990582C>A	CA428750773	GLI2	c.4617C>A (p.Ile1539=) c.4668C>A (p.Ile1556=) c.3716C>A (n.3716C>A) c.2544-8C>A (n.2544-8C>A) c.3767C>A (n.3767C>A) c.2493-8C>A (n.2493-8C>A) c.4650C>A (p.Ile1550=) c.4527C>A (p.Ile1509=) c.4473C>A (p.Ile1491=) c.4293C>A (p.Ile1431=) c.4242C>A (p.Ile1414=) c.4920C>A (p.Ile1640=) c.4569C>A (p.Ile1523=) c.4869C>A (p.Ile1623=)
2	g.120990582C=	CA1283796188	GLI2	c.4617C= (p.Ile1539=) c.4668C= (p.Ile1556=) c.3716C= (n.3716C=) c.2544-8C= (n.2544-8C=) c.3767C= (n.3767C=) c.2493-8C= (n.2493-8C=) c.4650C= (p.Ile1550=) c.4527C= (p.Ile1509=) c.4473C= (p.Ile1491=) c.4293C= (p.Ile1431=) c.4242C= (p.Ile1414=) c.4920C= (p.Ile1640=) c.4569C= (p.Ile1523=) c.4869C= (p.Ile1623=)
2	g.120990582C>G	CA348180209	GLI2	c.4617C>G (p.Ile1539Met) c.4668C>G (p.Ile1556Met) c.3716C>G (n.3716C>G) c.2544-8C>G (n.2544-8C>G) c.3767C>G (n.3767C>G) c.2493-8C>G (n.2493-8C>G) c.4650C>G (p.Ile1550Met) c.4527C>G (p.Ile1509Met) c.4473C>G (p.Ile1491Met) c.4293C>G (p.Ile1431Met) c.4242C>G (p.Ile1414Met) c.4920C>G (p.Ile1640Met) c.4569C>G (p.Ile1523Met) c.4869C>G (p.Ile1623Met)
2	g.120990582C>T	CA1852677	GLI2	c.4617C>T (p.Ile1539=) c.4668C>T (p.Ile1556=) c.3716C>T (n.3716C>T) c.2544-8C>T (n.2544-8C>T) c.3767C>T (n.3767C>T) c.2493-8C>T (n.2493-8C>T) c.4650C>T (p.Ile1550=) c.4527C>T (p.Ile1509=) c.4473C>T (p.Ile1491=) c.4293C>T (p.Ile1431=) c.4242C>T (p.Ile1414=) c.4920C>T (p.Ile1640=) c.4569C>T (p.Ile1523=) c.4869C>T (p.Ile1623=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.120990583C>A	CA348180210	GLI2	c.4618C>A (p.Pro1540Thr) c.4669C>A (p.Pro1557Thr) c.3717C>A (n.3717C>A) c.2544-7C>A (n.2544-7C>A) c.3768C>A (n.3768C>A) c.2493-7C>A (n.2493-7C>A) c.4651C>A (p.Pro1551Thr) c.4528C>A (p.Pro1510Thr) c.4474C>A (p.Pro1492Thr) c.4294C>A (p.Pro1432Thr) c.4243C>A (p.Pro1415Thr) c.4921C>A (p.Pro1641Thr) c.4570C>A (p.Pro1524Thr) c.4870C>A (p.Pro1624Thr)
2	g.120990583C>G	CA348180211	GLI2	c.4618C>G (p.Pro1540Ala) c.4669C>G (p.Pro1557Ala) c.3717C>G (n.3717C>G) c.2544-7C>G (n.2544-7C>G) c.3768C>G (n.3768C>G) c.2493-7C>G (n.2493-7C>G) c.4651C>G (p.Pro1551Ala) c.4528C>G (p.Pro1510Ala) c.4474C>G (p.Pro1492Ala) c.4294C>G (p.Pro1432Ala) c.4243C>G (p.Pro1415Ala) c.4921C>G (p.Pro1641Ala) c.4570C>G (p.Pro1524Ala) c.4870C>G (p.Pro1624Ala)
2	g.120990583C>T	CA348180212	GLI2	c.4618C>T (p.Pro1540Ser) c.4669C>T (p.Pro1557Ser) c.3717C>T (n.3717C>T) c.2544-7C>T (n.2544-7C>T) c.3768C>T (n.3768C>T) c.2493-7C>T (n.2493-7C>T) c.4651C>T (p.Pro1551Ser) c.4528C>T (p.Pro1510Ser) c.4474C>T (p.Pro1492Ser) c.4294C>T (p.Pro1432Ser) c.4243C>T (p.Pro1415Ser) c.4921C>T (p.Pro1641Ser) c.4570C>T (p.Pro1524Ser) c.4870C>T (p.Pro1624Ser)
2	g.120990584C>A	CA348180213	GLI2	c.4619C>A (p.Pro1540His) c.4670C>A (p.Pro1557His) c.3718C>A (n.3718C>A) c.2544-6C>A (n.2544-6C>A) c.3769C>A (n.3769C>A) c.2493-6C>A (n.2493-6C>A) c.4652C>A (p.Pro1551His) c.4529C>A (p.Pro1510His) c.4475C>A (p.Pro1492His) c.4295C>A (p.Pro1432His) c.4244C>A (p.Pro1415His) c.4922C>A (p.Pro1641His) c.4571C>A (p.Pro1524His) c.4871C>A (p.Pro1624His)
2	g.120990584C=	CA1283796189	GLI2	c.4619C= (p.Pro1540=) c.4670C= (p.Pro1557=) c.3718C= (n.3718C=) c.2544-6C= (n.2544-6C=) c.3769C= (n.3769C=) c.2493-6C= (n.2493-6C=) c.4652C= (p.Pro1551=) c.4529C= (p.Pro1510=) c.4475C= (p.Pro1492=) c.4295C= (p.Pro1432=) c.4244C= (p.Pro1415=) c.4922C= (p.Pro1641=) c.4571C= (p.Pro1524=) c.4871C= (p.Pro1624=)
2	g.120990584C>G	CA1852678	GLI2	c.4619C>G (p.Pro1540Arg) c.4670C>G (p.Pro1557Arg) c.3718C>G (n.3718C>G) c.2544-6C>G (n.2544-6C>G) c.3769C>G (n.3769C>G) c.2493-6C>G (n.2493-6C>G) c.4652C>G (p.Pro1551Arg) c.4529C>G (p.Pro1510Arg) c.4475C>G (p.Pro1492Arg) c.4295C>G (p.Pro1432Arg) c.4244C>G (p.Pro1415Arg) c.4922C>G (p.Pro1641Arg) c.4571C>G (p.Pro1524Arg) c.4871C>G (p.Pro1624Arg)	dbSNP ExAC gnomAD v2
2	g.120990584C>T	CA348180214	GLI2	c.4619C>T (p.Pro1540Leu) c.4670C>T (p.Pro1557Leu) c.3718C>T (n.3718C>T) c.2544-6C>T (n.2544-6C>T) c.3769C>T (n.3769C>T) c.2493-6C>T (n.2493-6C>T) c.4652C>T (p.Pro1551Leu) c.4529C>T (p.Pro1510Leu) c.4475C>T (p.Pro1492Leu) c.4295C>T (p.Pro1432Leu) c.4244C>T (p.Pro1415Leu) c.4922C>T (p.Pro1641Leu) c.4571C>T (p.Pro1524Leu) c.4871C>T (p.Pro1624Leu)
2	g.120990585C>A	CA428750774	GLI2	c.4620C>A (p.Pro1540=) c.4671C>A (p.Pro1557=) c.3719C>A (n.3719C>A) c.2544-5C>A (n.2544-5C>A) c.3770C>A (n.3770C>A) c.2493-5C>A (n.2493-5C>A) c.4653C>A (p.Pro1551=) c.4530C>A (p.Pro1510=) c.4476C>A (p.Pro1492=) c.4296C>A (p.Pro1432=) c.4245C>A (p.Pro1415=) c.4923C>A (p.Pro1641=) c.4572C>A (p.Pro1524=) c.4872C>A (p.Pro1624=)	dbSNP gnomAD v2 gnomAD v4
2	g.120990585C=	CA1283796190	GLI2	c.4620C= (p.Pro1540=) c.4671C= (p.Pro1557=) c.3719C= (n.3719C=) c.2544-5C= (n.2544-5C=) c.3770C= (n.3770C=) c.2493-5C= (n.2493-5C=) c.4653C= (p.Pro1551=) c.4530C= (p.Pro1510=) c.4476C= (p.Pro1492=) c.4296C= (p.Pro1432=) c.4245C= (p.Pro1415=) c.4923C= (p.Pro1641=) c.4572C= (p.Pro1524=) c.4872C= (p.Pro1624=)
2	g.120990585C>G	CA1852680	GLI2	c.4620C>G (p.Pro1540=) c.4671C>G (p.Pro1557=) c.3719C>G (n.3719C>G) c.2544-5C>G (n.2544-5C>G) c.3770C>G (n.3770C>G) c.2493-5C>G (n.2493-5C>G) c.4653C>G (p.Pro1551=) c.4530C>G (p.Pro1510=) c.4476C>G (p.Pro1492=) c.4296C>G (p.Pro1432=) c.4245C>G (p.Pro1415=) c.4923C>G (p.Pro1641=) c.4572C>G (p.Pro1524=) c.4872C>G (p.Pro1624=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.120990585C>T	CA1852679	GLI2	c.4620C>T (p.Pro1540=) c.4671C>T (p.Pro1557=) c.3719C>T (n.3719C>T) c.2544-5C>T (n.2544-5C>T) c.3770C>T (n.3770C>T) c.2493-5C>T (n.2493-5C>T) c.4653C>T (p.Pro1551=) c.4530C>T (p.Pro1510=) c.4476C>T (p.Pro1492=) c.4296C>T (p.Pro1432=) c.4245C>T (p.Pro1415=) c.4923C>T (p.Pro1641=) c.4572C>T (p.Pro1524=) c.4872C>T (p.Pro1624=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.120990586G>A	CA1852681	GLI2	c.4621G>A (p.Ala1541Thr) c.4672G>A (p.Ala1558Thr) c.3720G>A (n.3720G>A) c.2544-4G>A (n.2544-4G>A) c.3771G>A (n.3771G>A) c.2493-4G>A (n.2493-4G>A) c.4654G>A (p.Ala1552Thr) c.4531G>A (p.Ala1511Thr) c.4477G>A (p.Ala1493Thr) c.4297G>A (p.Ala1433Thr) c.4246G>A (p.Ala1416Thr) c.4924G>A (p.Ala1642Thr) c.4573G>A (p.Ala1525Thr) c.4873G>A (p.Ala1625Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.120990586G>C	CA348180215	GLI2	c.4621G>C (p.Ala1541Pro) c.4672G>C (p.Ala1558Pro) c.3720G>C (n.3720G>C) c.2544-4G>C (n.2544-4G>C) c.3771G>C (n.3771G>C) c.2493-4G>C (n.2493-4G>C) c.4654G>C (p.Ala1552Pro) c.4531G>C (p.Ala1511Pro) c.4477G>C (p.Ala1493Pro) c.4297G>C (p.Ala1433Pro) c.4246G>C (p.Ala1416Pro) c.4924G>C (p.Ala1642Pro) c.4573G>C (p.Ala1525Pro) c.4873G>C (p.Ala1625Pro)
2	g.120990586G=	CA1283796191	GLI2	c.4621G= (p.Ala1541=) c.4672G= (p.Ala1558=) c.3720G= (n.3720G=) c.2544-4G= (n.2544-4G=) c.3771G= (n.3771G=) c.2493-4G= (n.2493-4G=) c.4654G= (p.Ala1552=) c.4531G= (p.Ala1511=) c.4477G= (p.Ala1493=) c.4297G= (p.Ala1433=) c.4246G= (p.Ala1416=) c.4924G= (p.Ala1642=) c.4573G= (p.Ala1525=) c.4873G= (p.Ala1625=)
2	g.120990586G>T	CA348180216	GLI2	c.4621G>T (p.Ala1541Ser) c.4672G>T (p.Ala1558Ser) c.3720G>T (n.3720G>T) c.2544-4G>T (n.2544-4G>T) c.3771G>T (n.3771G>T) c.2493-4G>T (n.2493-4G>T) c.4654G>T (p.Ala1552Ser) c.4531G>T (p.Ala1511Ser) c.4477G>T (p.Ala1493Ser) c.4297G>T (p.Ala1433Ser) c.4246G>T (p.Ala1416Ser) c.4924G>T (p.Ala1642Ser) c.4573G>T (p.Ala1525Ser) c.4873G>T (p.Ala1625Ser)
2	g.120990587C>A	CA348180218	GLI2	c.4622C>A (p.Ala1541Glu) c.4673C>A (p.Ala1558Glu) c.3721C>A (n.3721C>A) c.2544-3C>A (n.2544-3C>A) c.3772C>A (n.3772C>A) c.2493-3C>A (n.2493-3C>A) c.4655C>A (p.Ala1552Glu) c.4532C>A (p.Ala1511Glu) c.4478C>A (p.Ala1493Glu) c.4298C>A (p.Ala1433Glu) c.4247C>A (p.Ala1416Glu) c.4925C>A (p.Ala1642Glu) c.4574C>A (p.Ala1525Glu) c.4874C>A (p.Ala1625Glu)
2	g.120990587C>G	CA348180219	GLI2	c.4622C>G (p.Ala1541Gly) c.4673C>G (p.Ala1558Gly) c.3721C>G (n.3721C>G) c.2544-3C>G (n.2544-3C>G) c.3772C>G (n.3772C>G) c.2493-3C>G (n.2493-3C>G) c.4655C>G (p.Ala1552Gly) c.4532C>G (p.Ala1511Gly) c.4478C>G (p.Ala1493Gly) c.4298C>G (p.Ala1433Gly) c.4247C>G (p.Ala1416Gly) c.4925C>G (p.Ala1642Gly) c.4574C>G (p.Ala1525Gly) c.4874C>G (p.Ala1625Gly)
2	g.120990587C>T	CA348180217	GLI2	c.4622C>T (p.Ala1541Val) c.4673C>T (p.Ala1558Val) c.3721C>T (n.3721C>T) c.2544-3C>T (n.2544-3C>T) c.3772C>T (n.3772C>T) c.2493-3C>T (n.2493-3C>T) c.4655C>T (p.Ala1552Val) c.4532C>T (p.Ala1511Val) c.4478C>T (p.Ala1493Val) c.4298C>T (p.Ala1433Val) c.4247C>T (p.Ala1416Val) c.4925C>T (p.Ala1642Val) c.4574C>T (p.Ala1525Val) c.4874C>T (p.Ala1625Val)
2	g.120990588A>C	CA428750775	GLI2	c.4623A>C (p.Ala1541=) c.4674A>C (p.Ala1558=) c.3722A>C (n.3722A>C) c.2544-2A>C (n.2544-2A>C) c.3773A>C (n.3773A>C) c.2493-2A>C (n.2493-2A>C) c.4656A>C (p.Ala1552=) c.4533A>C (p.Ala1511=) c.4479A>C (p.Ala1493=) c.4299A>C (p.Ala1433=) c.4248A>C (p.Ala1416=) c.4926A>C (p.Ala1642=) c.4575A>C (p.Ala1525=) c.4875A>C (p.Ala1625=)
2	g.120990588A>G	CA428750776	GLI2	c.4623A>G (p.Ala1541=) c.4674A>G (p.Ala1558=) c.3722A>G (n.3722A>G) c.2544-2A>G (n.2544-2A>G) c.3773A>G (n.3773A>G) c.2493-2A>G (n.2493-2A>G) c.4656A>G (p.Ala1552=) c.4533A>G (p.Ala1511=) c.4479A>G (p.Ala1493=) c.4299A>G (p.Ala1433=) c.4248A>G (p.Ala1416=) c.4926A>G (p.Ala1642=) c.4575A>G (p.Ala1525=) c.4875A>G (p.Ala1625=)	gnomAD v4
2	g.120990588A>T	CA428750777	GLI2	c.4623A>T (p.Ala1541=) c.4674A>T (p.Ala1558=) c.3722A>T (n.3722A>T) c.2544-2A>T (n.2544-2A>T) c.3773A>T (n.3773A>T) c.2493-2A>T (n.2493-2A>T) c.4656A>T (p.Ala1552=) c.4533A>T (p.Ala1511=) c.4479A>T (p.Ala1493=) c.4299A>T (p.Ala1433=) c.4248A>T (p.Ala1416=) c.4926A>T (p.Ala1642=) c.4575A>T (p.Ala1525=) c.4875A>T (p.Ala1625=)
2	g.120990589G>A	CA348180220	GLI2	c.4624G>A (p.Gly1542Ser) c.4675G>A (p.Gly1559Ser) c.3723G>A (n.3723G>A) c.2544-1G>A (n.2544-1G>A) c.3774G>A (n.3774G>A) c.2493-1G>A (n.2493-1G>A) c.4657G>A (p.Gly1553Ser) c.4534G>A (p.Gly1512Ser) c.4480G>A (p.Gly1494Ser) c.4300G>A (p.Gly1434Ser) c.4249G>A (p.Gly1417Ser) c.4927G>A (p.Gly1643Ser) c.4576G>A (p.Gly1526Ser) c.4876G>A (p.Gly1626Ser)
2	g.120990589G>C	CA348180222	GLI2	c.4624G>C (p.Gly1542Arg) c.4675G>C (p.Gly1559Arg) c.3723G>C (n.3723G>C) c.2544-1G>C (n.2544-1G>C) c.3774G>C (n.3774G>C) c.2493-1G>C (n.2493-1G>C) c.4657G>C (p.Gly1553Arg) c.4534G>C (p.Gly1512Arg) c.4480G>C (p.Gly1494Arg) c.4300G>C (p.Gly1434Arg) c.4249G>C (p.Gly1417Arg) c.4927G>C (p.Gly1643Arg) c.4576G>C (p.Gly1526Arg) c.4876G>C (p.Gly1626Arg)
2	g.120990589G>T	CA348180221	GLI2	c.4624G>T (p.Gly1542Cys) c.4675G>T (p.Gly1559Cys) c.3723G>T (n.3723G>T) c.2544-1G>T (n.2544-1G>T) c.3774G>T (n.3774G>T) c.2493-1G>T (n.2493-1G>T) c.4657G>T (p.Gly1553Cys) c.4534G>T (p.Gly1512Cys) c.4480G>T (p.Gly1494Cys) c.4300G>T (p.Gly1434Cys) c.4249G>T (p.Gly1417Cys) c.4927G>T (p.Gly1643Cys) c.4576G>T (p.Gly1526Cys) c.4876G>T (p.Gly1626Cys)
2	g.120990590G>A	CA348180223	GLI2	c.4625G>A (p.Gly1542Asp) c.4676G>A (p.Gly1559Asp) c.3724G>A (n.3724G>A) c.2544G>A (n.2544G>A) c.3775G>A (n.3775G>A) c.2493G>A (n.2493G>A) c.4658G>A (p.Gly1553Asp) c.4535G>A (p.Gly1512Asp) c.4481G>A (p.Gly1494Asp) c.4301G>A (p.Gly1434Asp) c.4250G>A (p.Gly1417Asp) c.4928G>A (p.Gly1643Asp) c.4577G>A (p.Gly1526Asp) c.4877G>A (p.Gly1626Asp)
2	g.120990590G>C	CA348180224	GLI2	c.4625G>C (p.Gly1542Ala) c.4676G>C (p.Gly1559Ala) c.3724G>C (n.3724G>C) c.2544G>C (n.2544G>C) c.3775G>C (n.3775G>C) c.2493G>C (n.2493G>C) c.4658G>C (p.Gly1553Ala) c.4535G>C (p.Gly1512Ala) c.4481G>C (p.Gly1494Ala) c.4301G>C (p.Gly1434Ala) c.4250G>C (p.Gly1417Ala) c.4928G>C (p.Gly1643Ala) c.4577G>C (p.Gly1526Ala) c.4877G>C (p.Gly1626Ala)	gnomAD v4
2	g.120990590G>T	CA348180225	GLI2	c.4625G>T (p.Gly1542Val) c.4676G>T (p.Gly1559Val) c.3724G>T (n.3724G>T) c.2544G>T (n.2544G>T) c.3775G>T (n.3775G>T) c.2493G>T (n.2493G>T) c.4658G>T (p.Gly1553Val) c.4535G>T (p.Gly1512Val) c.4481G>T (p.Gly1494Val) c.4301G>T (p.Gly1434Val) c.4250G>T (p.Gly1417Val) c.4928G>T (p.Gly1643Val) c.4577G>T (p.Gly1526Val) c.4877G>T (p.Gly1626Val)	gnomAD v4
2	g.120990591C>A	CA428750780	GLI2	c.4626C>A (p.Gly1542=) c.4677C>A (p.Gly1559=) c.3725C>A (n.3725C>A) c.2545C>A (n.2545C>A) c.3776C>A (n.3776C>A) c.2494C>A (n.2494C>A) c.4659C>A (p.Gly1553=) c.4536C>A (p.Gly1512=) c.4482C>A (p.Gly1494=) c.4302C>A (p.Gly1434=) c.4251C>A (p.Gly1417=) c.4929C>A (p.Gly1643=) c.4578C>A (p.Gly1526=) c.4878C>A (p.Gly1626=)
2	g.120990591C>G	CA428750778	GLI2	c.4626C>G (p.Gly1542=) c.4677C>G (p.Gly1559=) c.3725C>G (n.3725C>G) c.2545C>G (n.2545C>G) c.3776C>G (n.3776C>G) c.2494C>G (n.2494C>G) c.4659C>G (p.Gly1553=) c.4536C>G (p.Gly1512=) c.4482C>G (p.Gly1494=) c.4302C>G (p.Gly1434=) c.4251C>G (p.Gly1417=) c.4929C>G (p.Gly1643=) c.4578C>G (p.Gly1526=) c.4878C>G (p.Gly1626=)
2	g.120990591C>T	CA428750779	GLI2	c.4626C>T (p.Gly1542=) c.4677C>T (p.Gly1559=) c.3725C>T (n.3725C>T) c.2545C>T (n.2545C>T) c.3776C>T (n.3776C>T) c.2494C>T (n.2494C>T) c.4659C>T (p.Gly1553=) c.4536C>T (p.Gly1512=) c.4482C>T (p.Gly1494=) c.4302C>T (p.Gly1434=) c.4251C>T (p.Gly1417=) c.4929C>T (p.Gly1643=) c.4578C>T (p.Gly1526=) c.4878C>T (p.Gly1626=)
2	g.120990592A>C	CA348180226	GLI2	c.4627A>C (p.Ile1543Leu) c.4678A>C (p.Ile1560Leu) c.3726A>C (n.3726A>C) c.2546A>C (n.2546A>C) c.3777A>C (n.3777A>C) c.2495A>C (n.2495A>C) c.4660A>C (p.Ile1554Leu) c.4537A>C (p.Ile1513Leu) c.4483A>C (p.Ile1495Leu) c.4303A>C (p.Ile1435Leu) c.4252A>C (p.Ile1418Leu) c.4930A>C (p.Ile1644Leu) c.4579A>C (p.Ile1527Leu) c.4879A>C (p.Ile1627Leu)
2	g.120990592A>G	CA348180227	GLI2	c.4627A>G (p.Ile1543Val) c.4678A>G (p.Ile1560Val) c.3726A>G (n.3726A>G) c.2546A>G (n.2546A>G) c.3777A>G (n.3777A>G) c.2495A>G (n.2495A>G) c.4660A>G (p.Ile1554Val) c.4537A>G (p.Ile1513Val) c.4483A>G (p.Ile1495Val) c.4303A>G (p.Ile1435Val) c.4252A>G (p.Ile1418Val) c.4930A>G (p.Ile1644Val) c.4579A>G (p.Ile1527Val) c.4879A>G (p.Ile1627Val)
2	g.120990592A>T	CA348180228	GLI2	c.4627A>T (p.Ile1543Phe) c.4678A>T (p.Ile1560Phe) c.3726A>T (n.3726A>T) c.2546A>T (n.2546A>T) c.3777A>T (n.3777A>T) c.2495A>T (n.2495A>T) c.4660A>T (p.Ile1554Phe) c.4537A>T (p.Ile1513Phe) c.4483A>T (p.Ile1495Phe) c.4303A>T (p.Ile1435Phe) c.4252A>T (p.Ile1418Phe) c.4930A>T (p.Ile1644Phe) c.4579A>T (p.Ile1527Phe) c.4879A>T (p.Ile1627Phe)
2	g.120990593T>A	CA348180229	GLI2	c.4628T>A (p.Ile1543Asn) c.4679T>A (p.Ile1560Asn) c.3727T>A (n.3727T>A) c.2547T>A (n.2547T>A) c.3778T>A (n.3778T>A) c.2496T>A (n.2496T>A) c.4661T>A (p.Ile1554Asn) c.4538T>A (p.Ile1513Asn) c.4484T>A (p.Ile1495Asn) c.4304T>A (p.Ile1435Asn) c.4253T>A (p.Ile1418Asn) c.4931T>A (p.Ile1644Asn) c.4580T>A (p.Ile1527Asn) c.4880T>A (p.Ile1627Asn)
2	g.120990593T>C	CA348180230	GLI2	c.4628T>C (p.Ile1543Thr) c.4679T>C (p.Ile1560Thr) c.3727T>C (n.3727T>C) c.2547T>C (n.2547T>C) c.3778T>C (n.3778T>C) c.2496T>C (n.2496T>C) c.4661T>C (p.Ile1554Thr) c.4538T>C (p.Ile1513Thr) c.4484T>C (p.Ile1495Thr) c.4304T>C (p.Ile1435Thr) c.4253T>C (p.Ile1418Thr) c.4931T>C (p.Ile1644Thr) c.4580T>C (p.Ile1527Thr) c.4880T>C (p.Ile1627Thr)
2	g.120990593T>G	CA348180231	GLI2	c.4628T>G (p.Ile1543Ser) c.4679T>G (p.Ile1560Ser) c.3727T>G (n.3727T>G) c.2547T>G (n.2547T>G) c.3778T>G (n.3778T>G) c.2496T>G (n.2496T>G) c.4661T>G (p.Ile1554Ser) c.4538T>G (p.Ile1513Ser) c.4484T>G (p.Ile1495Ser) c.4304T>G (p.Ile1435Ser) c.4253T>G (p.Ile1418Ser) c.4931T>G (p.Ile1644Ser) c.4580T>G (p.Ile1527Ser) c.4880T>G (p.Ile1627Ser)
2	g.120990594C>A	CA428750781	GLI2	c.4629C>A (p.Ile1543=) c.4680C>A (p.Ile1560=) c.3728C>A (n.3728C>A) c.2548C>A (n.2548C>A) c.3779C>A (n.3779C>A) c.2497C>A (n.2497C>A) c.4662C>A (p.Ile1554=) c.4539C>A (p.Ile1513=) c.4485C>A (p.Ile1495=) c.4305C>A (p.Ile1435=) c.4254C>A (p.Ile1418=) c.4932C>A (p.Ile1644=) c.4581C>A (p.Ile1527=) c.4881C>A (p.Ile1627=)
2	g.120990594C>G	CA348180232	GLI2	c.4629C>G (p.Ile1543Met) c.4680C>G (p.Ile1560Met) c.3728C>G (n.3728C>G) c.2548C>G (n.2548C>G) c.3779C>G (n.3779C>G) c.2497C>G (n.2497C>G) c.4662C>G (p.Ile1554Met) c.4539C>G (p.Ile1513Met) c.4485C>G (p.Ile1495Met) c.4305C>G (p.Ile1435Met) c.4254C>G (p.Ile1418Met) c.4932C>G (p.Ile1644Met) c.4581C>G (p.Ile1527Met) c.4881C>G (p.Ile1627Met)
2	g.120990594C>T	CA428750782	GLI2	c.4629C>T (p.Ile1543=) c.4680C>T (p.Ile1560=) c.3728C>T (n.3728C>T) c.2548C>T (n.2548C>T) c.3779C>T (n.3779C>T) c.2497C>T (n.2497C>T) c.4662C>T (p.Ile1554=) c.4539C>T (p.Ile1513=) c.4485C>T (p.Ile1495=) c.4305C>T (p.Ile1435=) c.4254C>T (p.Ile1418=) c.4932C>T (p.Ile1644=) c.4581C>T (p.Ile1527=) c.4881C>T (p.Ile1627=)
2	g.120990595A>C	CA348180233	GLI2	c.4630A>C (p.Ser1544Arg) c.4681A>C (p.Ser1561Arg) c.3729A>C (n.3729A>C) c.2549A>C (n.2549A>C) c.3780A>C (n.3780A>C) c.2498A>C (n.2498A>C) c.4663A>C (p.Ser1555Arg) c.4540A>C (p.Ser1514Arg) c.4486A>C (p.Ser1496Arg) c.4306A>C (p.Ser1436Arg) c.4255A>C (p.Ser1419Arg) c.4933A>C (p.Ser1645Arg) c.4582A>C (p.Ser1528Arg) c.4882A>C (p.Ser1628Arg)
2	g.120990595A>G	CA348180234	GLI2	c.4630A>G (p.Ser1544Gly) c.4681A>G (p.Ser1561Gly) c.3729A>G (n.3729A>G) c.2549A>G (n.2549A>G) c.3780A>G (n.3780A>G) c.2498A>G (n.2498A>G) c.4663A>G (p.Ser1555Gly) c.4540A>G (p.Ser1514Gly) c.4486A>G (p.Ser1496Gly) c.4306A>G (p.Ser1436Gly) c.4255A>G (p.Ser1419Gly) c.4933A>G (p.Ser1645Gly) c.4582A>G (p.Ser1528Gly) c.4882A>G (p.Ser1628Gly)
2	g.120990595A>T	CA348180235	GLI2	c.4630A>T (p.Ser1544Cys) c.4681A>T (p.Ser1561Cys) c.3729A>T (n.3729A>T) c.2549A>T (n.2549A>T) c.3780A>T (n.3780A>T) c.2498A>T (n.2498A>T) c.4663A>T (p.Ser1555Cys) c.4540A>T (p.Ser1514Cys) c.4486A>T (p.Ser1496Cys) c.4306A>T (p.Ser1436Cys) c.4255A>T (p.Ser1419Cys) c.4933A>T (p.Ser1645Cys) c.4582A>T (p.Ser1528Cys) c.4882A>T (p.Ser1628Cys)
2	g.120990596G>A	CA348180238	GLI2	c.4631G>A (p.Ser1544Asn) c.4682G>A (p.Ser1561Asn) c.3730G>A (n.3730G>A) c.2550G>A (n.2550G>A) c.3781G>A (n.3781G>A) c.2499G>A (n.2499G>A) c.4664G>A (p.Ser1555Asn) c.4541G>A (p.Ser1514Asn) c.4487G>A (p.Ser1496Asn) c.4307G>A (p.Ser1436Asn) c.4256G>A (p.Ser1419Asn) c.4934G>A (p.Ser1645Asn) c.4583G>A (p.Ser1528Asn) c.4883G>A (p.Ser1628Asn)
2	g.120990596G>C	CA348180237	GLI2	c.4631G>C (p.Ser1544Thr) c.4682G>C (p.Ser1561Thr) c.3730G>C (n.3730G>C) c.2550G>C (n.2550G>C) c.3781G>C (n.3781G>C) c.2499G>C (n.2499G>C) c.4664G>C (p.Ser1555Thr) c.4541G>C (p.Ser1514Thr) c.4487G>C (p.Ser1496Thr) c.4307G>C (p.Ser1436Thr) c.4256G>C (p.Ser1419Thr) c.4934G>C (p.Ser1645Thr) c.4583G>C (p.Ser1528Thr) c.4883G>C (p.Ser1628Thr)	gnomAD v4
2	g.120990596G>T	CA348180236	GLI2	c.4631G>T (p.Ser1544Ile) c.4682G>T (p.Ser1561Ile) c.3730G>T (n.3730G>T) c.2550G>T (n.2550G>T) c.3781G>T (n.3781G>T) c.2499G>T (n.2499G>T) c.4664G>T (p.Ser1555Ile) c.4541G>T (p.Ser1514Ile) c.4487G>T (p.Ser1496Ile) c.4307G>T (p.Ser1436Ile) c.4256G>T (p.Ser1419Ile) c.4934G>T (p.Ser1645Ile) c.4583G>T (p.Ser1528Ile) c.4883G>T (p.Ser1628Ile)
2	g.120990597C>A	CA348180239	GLI2	c.4632C>A (p.Ser1544Arg) c.4683C>A (p.Ser1561Arg) c.3731C>A (n.3731C>A) c.2551C>A (n.2551C>A) c.3782C>A (n.3782C>A) c.2500C>A (n.2500C>A) c.4665C>A (p.Ser1555Arg) c.4542C>A (p.Ser1514Arg) c.4488C>A (p.Ser1496Arg) c.4308C>A (p.Ser1436Arg) c.4257C>A (p.Ser1419Arg) c.4935C>A (p.Ser1645Arg) c.4584C>A (p.Ser1528Arg) c.4884C>A (p.Ser1628Arg)
2	g.120990597C>G	CA348180240	GLI2	c.4632C>G (p.Ser1544Arg) c.4683C>G (p.Ser1561Arg) c.3731C>G (n.3731C>G) c.2551C>G (n.2551C>G) c.3782C>G (n.3782C>G) c.2500C>G (n.2500C>G) c.4665C>G (p.Ser1555Arg) c.4542C>G (p.Ser1514Arg) c.4488C>G (p.Ser1496Arg) c.4308C>G (p.Ser1436Arg) c.4257C>G (p.Ser1419Arg) c.4935C>G (p.Ser1645Arg) c.4584C>G (p.Ser1528Arg) c.4884C>G (p.Ser1628Arg)
2	g.120990597C>T	CA428559477	GLI2	c.4632C>T (p.Ser1544=) c.4683C>T (p.Ser1561=) c.3731C>T (n.3731C>T) c.2551C>T (n.2551C>T) c.3782C>T (n.3782C>T) c.2500C>T (n.2500C>T) c.4665C>T (p.Ser1555=) c.4542C>T (p.Ser1514=) c.4488C>T (p.Ser1496=) c.4308C>T (p.Ser1436=) c.4257C>T (p.Ser1419=) c.4935C>T (p.Ser1645=) c.4584C>T (p.Ser1528=) c.4884C>T (p.Ser1628=)
2	g.120990598A>C	CA348180241	GLI2	c.4633A>C (p.Asn1545His) c.4684A>C (p.Asn1562His) c.3732A>C (n.3732A>C) c.2552A>C (n.2552A>C) c.3783A>C (n.3783A>C) c.2501A>C (n.2501A>C) c.4666A>C (p.Asn1556His) c.4543A>C (p.Asn1515His) c.4489A>C (p.Asn1497His) c.4309A>C (p.Asn1437His) c.4258A>C (p.Asn1420His) c.4936A>C (p.Asn1646His) c.4585A>C (p.Asn1529His) c.4885A>C (p.Asn1629His)
2	g.120990598A>G	CA348180242	GLI2	c.4633A>G (p.Asn1545Asp) c.4684A>G (p.Asn1562Asp) c.3732A>G (n.3732A>G) c.2552A>G (n.2552A>G) c.3783A>G (n.3783A>G) c.2501A>G (n.2501A>G) c.4666A>G (p.Asn1556Asp) c.4543A>G (p.Asn1515Asp) c.4489A>G (p.Asn1497Asp) c.4309A>G (p.Asn1437Asp) c.4258A>G (p.Asn1420Asp) c.4936A>G (p.Asn1646Asp) c.4585A>G (p.Asn1529Asp) c.4885A>G (p.Asn1629Asp)
2	g.120990598A>T	CA348180243	GLI2	c.4633A>T (p.Asn1545Tyr) c.4684A>T (p.Asn1562Tyr) c.3732A>T (n.3732A>T) c.2552A>T (n.2552A>T) c.3783A>T (n.3783A>T) c.2501A>T (n.2501A>T) c.4666A>T (p.Asn1556Tyr) c.4543A>T (p.Asn1515Tyr) c.4489A>T (p.Asn1497Tyr) c.4309A>T (p.Asn1437Tyr) c.4258A>T (p.Asn1420Tyr) c.4936A>T (p.Asn1646Tyr) c.4585A>T (p.Asn1529Tyr) c.4885A>T (p.Asn1629Tyr)
2	g.120990598_120990599dup	CA2660922246	GLI2	c.4633_4634dup (p.Asn1545LysfsTer8) c.4684_4685dup (p.Asn1562LysfsTer8) c.3732_3733dup (n.3732_3733dup) c.2552_2553dup (n.2552_2553dup) c.3783_3784dup (n.3783_3784dup) c.2501_2502dup (n.2501_2502dup) c.4666_4667dup (p.Asn1556LysfsTer8) c.4543_4544dup (p.Asn1515LysfsTer8) c.4489_4490dup (p.Asn1497LysfsTer8) c.4309_4310dup (p.Asn1437LysfsTer8) c.4258_4259dup (p.Asn1420LysfsTer8) c.4936_4937dup (p.Asn1646LysfsTer8) c.4585_4586dup (p.Asn1529LysfsTer8) c.4885_4886dup (p.Asn1629LysfsTer8)	gnomAD v4
2	g.120990599A>C	CA348180244	GLI2	c.4634A>C (p.Asn1545Thr) c.4685A>C (p.Asn1562Thr) c.3733A>C (n.3733A>C) c.2553A>C (n.2553A>C) c.3784A>C (n.3784A>C) c.2502A>C (n.2502A>C) c.4667A>C (p.Asn1556Thr) c.4544A>C (p.Asn1515Thr) c.4490A>C (p.Asn1497Thr) c.4310A>C (p.Asn1437Thr) c.4259A>C (p.Asn1420Thr) c.4937A>C (p.Asn1646Thr) c.4586A>C (p.Asn1529Thr) c.4886A>C (p.Asn1629Thr)
2	g.120990599A>G	CA348180245	GLI2	c.4634A>G (p.Asn1545Ser) c.4685A>G (p.Asn1562Ser) c.3733A>G (n.3733A>G) c.2553A>G (n.2553A>G) c.3784A>G (n.3784A>G) c.2502A>G (n.2502A>G) c.4667A>G (p.Asn1556Ser) c.4544A>G (p.Asn1515Ser) c.4490A>G (p.Asn1497Ser) c.4310A>G (p.Asn1437Ser) c.4259A>G (p.Asn1420Ser) c.4937A>G (p.Asn1646Ser) c.4586A>G (p.Asn1529Ser) c.4886A>G (p.Asn1629Ser)	gnomAD v4
2	g.120990599A>T	CA348180246	GLI2	c.4634A>T (p.Asn1545Ile) c.4685A>T (p.Asn1562Ile) c.3733A>T (n.3733A>T) c.2553A>T (n.2553A>T) c.3784A>T (n.3784A>T) c.2502A>T (n.2502A>T) c.4667A>T (p.Asn1556Ile) c.4544A>T (p.Asn1515Ile) c.4490A>T (p.Asn1497Ile) c.4310A>T (p.Asn1437Ile) c.4259A>T (p.Asn1420Ile) c.4937A>T (p.Asn1646Ile) c.4586A>T (p.Asn1529Ile) c.4886A>T (p.Asn1629Ile)
2	g.120990600C>A	CA348180247	GLI2	c.4635C>A (p.Asn1545Lys) c.4686C>A (p.Asn1562Lys) c.3734C>A (n.3734C>A) c.2554C>A (n.2554C>A) c.3785C>A (n.3785C>A) c.2503C>A (n.2503C>A) c.4668C>A (p.Asn1556Lys) c.4545C>A (p.Asn1515Lys) c.4491C>A (p.Asn1497Lys) c.4311C>A (p.Asn1437Lys) c.4260C>A (p.Asn1420Lys) c.4938C>A (p.Asn1646Lys) c.4587C>A (p.Asn1529Lys) c.4887C>A (p.Asn1629Lys)
2	g.120990600C>G	CA348180248	GLI2	c.4635C>G (p.Asn1545Lys) c.4686C>G (p.Asn1562Lys) c.3734C>G (n.3734C>G) c.2554C>G (n.2554C>G) c.3785C>G (n.3785C>G) c.2503C>G (n.2503C>G) c.4668C>G (p.Asn1556Lys) c.4545C>G (p.Asn1515Lys) c.4491C>G (p.Asn1497Lys) c.4311C>G (p.Asn1437Lys) c.4260C>G (p.Asn1420Lys) c.4938C>G (p.Asn1646Lys) c.4587C>G (p.Asn1529Lys) c.4887C>G (p.Asn1629Lys)
2	g.120990600C>T	CA428559478	GLI2	c.4635C>T (p.Asn1545=) c.4686C>T (p.Asn1562=) c.3734C>T (n.3734C>T) c.2554C>T (n.2554C>T) c.3785C>T (n.3785C>T) c.2503C>T (n.2503C>T) c.4668C>T (p.Asn1556=) c.4545C>T (p.Asn1515=) c.4491C>T (p.Asn1497=) c.4311C>T (p.Asn1437=) c.4260C>T (p.Asn1420=) c.4938C>T (p.Asn1646=) c.4587C>T (p.Asn1529=) c.4887C>T (p.Asn1629=)
2	g.120990601A>C	CA348180249	GLI2	c.4636A>C (p.Met1546Leu) c.4687A>C (p.Met1563Leu) c.3735A>C (n.3735A>C) c.2555A>C (n.2555A>C) c.3786A>C (n.3786A>C) c.2504A>C (n.2504A>C) c.4669A>C (p.Met1557Leu) c.4546A>C (p.Met1516Leu) c.4492A>C (p.Met1498Leu) c.4312A>C (p.Met1438Leu) c.4261A>C (p.Met1421Leu) c.4939A>C (p.Met1647Leu) c.4588A>C (p.Met1530Leu) c.4888A>C (p.Met1630Leu)
2	g.120990601A>G	CA348180250	GLI2	c.4636A>G (p.Met1546Val) c.4687A>G (p.Met1563Val) c.3735A>G (n.3735A>G) c.2555A>G (n.2555A>G) c.3786A>G (n.3786A>G) c.2504A>G (n.2504A>G) c.4669A>G (p.Met1557Val) c.4546A>G (p.Met1516Val) c.4492A>G (p.Met1498Val) c.4312A>G (p.Met1438Val) c.4261A>G (p.Met1421Val) c.4939A>G (p.Met1647Val) c.4588A>G (p.Met1530Val) c.4888A>G (p.Met1630Val)	ClinVar gnomAD v4
2	g.120990601A>T	CA348180251	GLI2	c.4636A>T (p.Met1546Leu) c.4687A>T (p.Met1563Leu) c.3735A>T (n.3735A>T) c.2555A>T (n.2555A>T) c.3786A>T (n.3786A>T) c.2504A>T (n.2504A>T) c.4669A>T (p.Met1557Leu) c.4546A>T (p.Met1516Leu) c.4492A>T (p.Met1498Leu) c.4312A>T (p.Met1438Leu) c.4261A>T (p.Met1421Leu) c.4939A>T (p.Met1647Leu) c.4588A>T (p.Met1530Leu) c.4888A>T (p.Met1630Leu)
2	g.120990602T>A	CA348180253	GLI2	c.4637T>A (p.Met1546Lys) c.4688T>A (p.Met1563Lys) c.3736T>A (n.3736T>A) c.2556T>A (n.2556T>A) c.3787T>A (n.3787T>A) c.2505T>A (n.2505T>A) c.4670T>A (p.Met1557Lys) c.4547T>A (p.Met1516Lys) c.4493T>A (p.Met1498Lys) c.4313T>A (p.Met1438Lys) c.4262T>A (p.Met1421Lys) c.4940T>A (p.Met1647Lys) c.4589T>A (p.Met1530Lys) c.4889T>A (p.Met1630Lys)
2	g.120990602T>C	CA348180254	GLI2	c.4637T>C (p.Met1546Thr) c.4688T>C (p.Met1563Thr) c.3736T>C (n.3736T>C) c.2556T>C (n.2556T>C) c.3787T>C (n.3787T>C) c.2505T>C (n.2505T>C) c.4670T>C (p.Met1557Thr) c.4547T>C (p.Met1516Thr) c.4493T>C (p.Met1498Thr) c.4313T>C (p.Met1438Thr) c.4262T>C (p.Met1421Thr) c.4940T>C (p.Met1647Thr) c.4589T>C (p.Met1530Thr) c.4889T>C (p.Met1630Thr)	dbSNP gnomAD v2 gnomAD v4
2	g.120990602T>G	CA348180252	GLI2	c.4637T>G (p.Met1546Arg) c.4688T>G (p.Met1563Arg) c.3736T>G (n.3736T>G) c.2556T>G (n.2556T>G) c.3787T>G (n.3787T>G) c.2505T>G (n.2505T>G) c.4670T>G (p.Met1557Arg) c.4547T>G (p.Met1516Arg) c.4493T>G (p.Met1498Arg) c.4313T>G (p.Met1438Arg) c.4262T>G (p.Met1421Arg) c.4940T>G (p.Met1647Arg) c.4589T>G (p.Met1530Arg) c.4889T>G (p.Met1630Arg)	gnomAD v4
2	g.120990602T=	CA1283796192	GLI2	c.4637T= (p.Met1546=) c.4688T= (p.Met1563=) c.3736T= (n.3736T=) c.2556T= (n.2556T=) c.3787T= (n.3787T=) c.2505T= (n.2505T=) c.4670T= (p.Met1557=) c.4547T= (p.Met1516=) c.4493T= (p.Met1498=) c.4313T= (p.Met1438=) c.4262T= (p.Met1421=) c.4940T= (p.Met1647=) c.4589T= (p.Met1530=) c.4889T= (p.Met1630=)
2	g.120990603G>A	CA348180255	GLI2	c.4638G>A (p.Met1546Ile) c.4689G>A (p.Met1563Ile) c.3737G>A (n.3737G>A) c.2557G>A (n.2557G>A) c.3788G>A (n.3788G>A) c.2506G>A (n.2506G>A) c.4671G>A (p.Met1557Ile) c.4548G>A (p.Met1516Ile) c.4494G>A (p.Met1498Ile) c.4314G>A (p.Met1438Ile) c.4263G>A (p.Met1421Ile) c.4941G>A (p.Met1647Ile) c.4590G>A (p.Met1530Ile) c.4890G>A (p.Met1630Ile)
2	g.120990603G>C	CA348180256	GLI2	c.4638G>C (p.Met1546Ile) c.4689G>C (p.Met1563Ile) c.3737G>C (n.3737G>C) c.2557G>C (n.2557G>C) c.3788G>C (n.3788G>C) c.2506G>C (n.2506G>C) c.4671G>C (p.Met1557Ile) c.4548G>C (p.Met1516Ile) c.4494G>C (p.Met1498Ile) c.4314G>C (p.Met1438Ile) c.4263G>C (p.Met1421Ile) c.4941G>C (p.Met1647Ile) c.4590G>C (p.Met1530Ile) c.4890G>C (p.Met1630Ile)
2	g.120990603G>T	CA348180257	GLI2	c.4638G>T (p.Met1546Ile) c.4689G>T (p.Met1563Ile) c.3737G>T (n.3737G>T) c.2557G>T (n.2557G>T) c.3788G>T (n.3788G>T) c.2506G>T (n.2506G>T) c.4671G>T (p.Met1557Ile) c.4548G>T (p.Met1516Ile) c.4494G>T (p.Met1498Ile) c.4314G>T (p.Met1438Ile) c.4263G>T (p.Met1421Ile) c.4941G>T (p.Met1647Ile) c.4590G>T (p.Met1530Ile) c.4890G>T (p.Met1630Ile)
2	g.120990604G>A	CA348180258	GLI2	c.4639G>A (p.Ala1547Thr) c.4690G>A (p.Ala1564Thr) c.3738G>A (n.3738G>A) c.2558G>A (n.2558G>A) c.3789G>A (n.3789G>A) c.2507G>A (n.2507G>A) c.4672G>A (p.Ala1558Thr) c.4549G>A (p.Ala1517Thr) c.4495G>A (p.Ala1499Thr) c.4315G>A (p.Ala1439Thr) c.4264G>A (p.Ala1422Thr) c.4942G>A (p.Ala1648Thr) c.4591G>A (p.Ala1531Thr) c.4891G>A (p.Ala1631Thr)	dbSNP
2	g.120990604G>C	CA348180259	GLI2	c.4639G>C (p.Ala1547Pro) c.4690G>C (p.Ala1564Pro) c.3738G>C (n.3738G>C) c.2558G>C (n.2558G>C) c.3789G>C (n.3789G>C) c.2507G>C (n.2507G>C) c.4672G>C (p.Ala1558Pro) c.4549G>C (p.Ala1517Pro) c.4495G>C (p.Ala1499Pro) c.4315G>C (p.Ala1439Pro) c.4264G>C (p.Ala1422Pro) c.4942G>C (p.Ala1648Pro) c.4591G>C (p.Ala1531Pro) c.4891G>C (p.Ala1631Pro)
2	g.120990604G=	CA1283796193	GLI2	c.4639G= (p.Ala1547=) c.4690G= (p.Ala1564=) c.3738G= (n.3738G=) c.2558G= (n.2558G=) c.3789G= (n.3789G=) c.2507G= (n.2507G=) c.4672G= (p.Ala1558=) c.4549G= (p.Ala1517=) c.4495G= (p.Ala1499=) c.4315G= (p.Ala1439=) c.4264G= (p.Ala1422=) c.4942G= (p.Ala1648=) c.4591G= (p.Ala1531=) c.4891G= (p.Ala1631=)
2	g.120990604G>T	CA348180260	GLI2	c.4639G>T (p.Ala1547Ser) c.4690G>T (p.Ala1564Ser) c.3738G>T (n.3738G>T) c.2558G>T (n.2558G>T) c.3789G>T (n.3789G>T) c.2507G>T (n.2507G>T) c.4672G>T (p.Ala1558Ser) c.4549G>T (p.Ala1517Ser) c.4495G>T (p.Ala1499Ser) c.4315G>T (p.Ala1439Ser) c.4264G>T (p.Ala1422Ser) c.4942G>T (p.Ala1648Ser) c.4591G>T (p.Ala1531Ser) c.4891G>T (p.Ala1631Ser)
2	g.120990605C>A	CA348180261	GLI2	c.4640C>A (p.Ala1547Asp) c.4691C>A (p.Ala1564Asp) c.3739C>A (n.3739C>A) c.2559C>A (n.2559C>A) c.3790C>A (n.3790C>A) c.2508C>A (n.2508C>A) c.4673C>A (p.Ala1558Asp) c.4550C>A (p.Ala1517Asp) c.4496C>A (p.Ala1499Asp) c.4316C>A (p.Ala1439Asp) c.4265C>A (p.Ala1422Asp) c.4943C>A (p.Ala1648Asp) c.4592C>A (p.Ala1531Asp) c.4892C>A (p.Ala1631Asp)
2	g.120990605C>G	CA348180262	GLI2	c.4640C>G (p.Ala1547Gly) c.4691C>G (p.Ala1564Gly) c.3739C>G (n.3739C>G) c.2559C>G (n.2559C>G) c.3790C>G (n.3790C>G) c.2508C>G (n.2508C>G) c.4673C>G (p.Ala1558Gly) c.4550C>G (p.Ala1517Gly) c.4496C>G (p.Ala1499Gly) c.4316C>G (p.Ala1439Gly) c.4265C>G (p.Ala1422Gly) c.4943C>G (p.Ala1648Gly) c.4592C>G (p.Ala1531Gly) c.4892C>G (p.Ala1631Gly)
2	g.120990605C>T	CA348180263	GLI2	c.4640C>T (p.Ala1547Val) c.4691C>T (p.Ala1564Val) c.3739C>T (n.3739C>T) c.2559C>T (n.2559C>T) c.3790C>T (n.3790C>T) c.2508C>T (n.2508C>T) c.4673C>T (p.Ala1558Val) c.4550C>T (p.Ala1517Val) c.4496C>T (p.Ala1499Val) c.4316C>T (p.Ala1439Val) c.4265C>T (p.Ala1422Val) c.4943C>T (p.Ala1648Val) c.4592C>T (p.Ala1531Val) c.4892C>T (p.Ala1631Val)	gnomAD v4
2	g.120990606T>A	CA428559479	GLI2	c.4641T>A (p.Ala1547=) c.4692T>A (p.Ala1564=) c.3740T>A (n.3740T>A) c.2560T>A (n.2560T>A) c.3791T>A (n.3791T>A) c.2509T>A (n.2509T>A) c.4674T>A (p.Ala1558=) c.4551T>A (p.Ala1517=) c.4497T>A (p.Ala1499=) c.4317T>A (p.Ala1439=) c.4266T>A (p.Ala1422=) c.4944T>A (p.Ala1648=) c.4593T>A (p.Ala1531=) c.4893T>A (p.Ala1631=)
2	g.120990606T>C	CA428559480	GLI2	c.4641T>C (p.Ala1547=) c.4692T>C (p.Ala1564=) c.3740T>C (n.3740T>C) c.2560T>C (n.2560T>C) c.3791T>C (n.3791T>C) c.2509T>C (n.2509T>C) c.4674T>C (p.Ala1558=) c.4551T>C (p.Ala1517=) c.4497T>C (p.Ala1499=) c.4317T>C (p.Ala1439=) c.4266T>C (p.Ala1422=) c.4944T>C (p.Ala1648=) c.4593T>C (p.Ala1531=) c.4893T>C (p.Ala1631=)	dbSNP
2	g.120990606T>G	CA428559481	GLI2	c.4641T>G (p.Ala1547=) c.4692T>G (p.Ala1564=) c.3740T>G (n.3740T>G) c.2560T>G (n.2560T>G) c.3791T>G (n.3791T>G) c.2509T>G (n.2509T>G) c.4674T>G (p.Ala1558=) c.4551T>G (p.Ala1517=) c.4497T>G (p.Ala1499=) c.4317T>G (p.Ala1439=) c.4266T>G (p.Ala1422=) c.4944T>G (p.Ala1648=) c.4593T>G (p.Ala1531=) c.4893T>G (p.Ala1631=)
2	g.120990606T=	CA1283796194	GLI2	c.4641T= (p.Ala1547=) c.4692T= (p.Ala1564=) c.3740T= (n.3740T=) c.2560T= (n.2560T=) c.3791T= (n.3791T=) c.2509T= (n.2509T=) c.4674T= (p.Ala1558=) c.4551T= (p.Ala1517=) c.4497T= (p.Ala1499=) c.4317T= (p.Ala1439=) c.4266T= (p.Ala1422=) c.4944T= (p.Ala1648=) c.4593T= (p.Ala1531=) c.4893T= (p.Ala1631=)
2	g.120990607G>A	CA348180264	GLI2	c.4642G>A (p.Val1548Ile) c.4693G>A (p.Val1565Ile) c.3741G>A (n.3741G>A) c.2561G>A (n.2561G>A) c.3792G>A (n.3792G>A) c.2510G>A (n.2510G>A) c.4675G>A (p.Val1559Ile) c.4552G>A (p.Val1518Ile) c.4498G>A (p.Val1500Ile) c.4318G>A (p.Val1440Ile) c.4267G>A (p.Val1423Ile) c.4945G>A (p.Val1649Ile) c.4594G>A (p.Val1532Ile) c.4894G>A (p.Val1632Ile)
2	g.120990607G>C	CA348180265	GLI2	c.4642G>C (p.Val1548Leu) c.4693G>C (p.Val1565Leu) c.3741G>C (n.3741G>C) c.2561G>C (n.2561G>C) c.3792G>C (n.3792G>C) c.2510G>C (n.2510G>C) c.4675G>C (p.Val1559Leu) c.4552G>C (p.Val1518Leu) c.4498G>C (p.Val1500Leu) c.4318G>C (p.Val1440Leu) c.4267G>C (p.Val1423Leu) c.4945G>C (p.Val1649Leu) c.4594G>C (p.Val1532Leu) c.4894G>C (p.Val1632Leu)	gnomAD v4
2	g.120990607G>T	CA348180266	GLI2	c.4642G>T (p.Val1548Phe) c.4693G>T (p.Val1565Phe) c.3741G>T (n.3741G>T) c.2561G>T (n.2561G>T) c.3792G>T (n.3792G>T) c.2510G>T (n.2510G>T) c.4675G>T (p.Val1559Phe) c.4552G>T (p.Val1518Phe) c.4498G>T (p.Val1500Phe) c.4318G>T (p.Val1440Phe) c.4267G>T (p.Val1423Phe) c.4945G>T (p.Val1649Phe) c.4594G>T (p.Val1532Phe) c.4894G>T (p.Val1632Phe)
2	g.120990608T>A	CA348180269	GLI2	c.4643T>A (p.Val1548Asp) c.4694T>A (p.Val1565Asp) c.3742T>A (n.3742T>A) c.2562T>A (n.2562T>A) c.3793T>A (n.3793T>A) c.2511T>A (n.2511T>A) c.4676T>A (p.Val1559Asp) c.4553T>A (p.Val1518Asp) c.4499T>A (p.Val1500Asp) c.4319T>A (p.Val1440Asp) c.4268T>A (p.Val1423Asp) c.4946T>A (p.Val1649Asp) c.4595T>A (p.Val1532Asp) c.4895T>A (p.Val1632Asp)
2	g.120990608T>C	CA348180267	GLI2	c.4643T>C (p.Val1548Ala) c.4694T>C (p.Val1565Ala) c.3742T>C (n.3742T>C) c.2562T>C (n.2562T>C) c.3793T>C (n.3793T>C) c.2511T>C (n.2511T>C) c.4676T>C (p.Val1559Ala) c.4553T>C (p.Val1518Ala) c.4499T>C (p.Val1500Ala) c.4319T>C (p.Val1440Ala) c.4268T>C (p.Val1423Ala) c.4946T>C (p.Val1649Ala) c.4595T>C (p.Val1532Ala) c.4895T>C (p.Val1632Ala)
2	g.120990608T>G	CA348180268	GLI2	c.4643T>G (p.Val1548Gly) c.4694T>G (p.Val1565Gly) c.3742T>G (n.3742T>G) c.2562T>G (n.2562T>G) c.3793T>G (n.3793T>G) c.2511T>G (n.2511T>G) c.4676T>G (p.Val1559Gly) c.4553T>G (p.Val1518Gly) c.4499T>G (p.Val1500Gly) c.4319T>G (p.Val1440Gly) c.4268T>G (p.Val1423Gly) c.4946T>G (p.Val1649Gly) c.4595T>G (p.Val1532Gly) c.4895T>G (p.Val1632Gly)	dbSNP
2	g.120990608T=	CA1283796195	GLI2	c.4643T= (p.Val1548=) c.4694T= (p.Val1565=) c.3742T= (n.3742T=) c.2562T= (n.2562T=) c.3793T= (n.3793T=) c.2511T= (n.2511T=) c.4676T= (p.Val1559=) c.4553T= (p.Val1518=) c.4499T= (p.Val1500=) c.4319T= (p.Val1440=) c.4268T= (p.Val1423=) c.4946T= (p.Val1649=) c.4595T= (p.Val1532=) c.4895T= (p.Val1632=)
2	g.120990609C>A	CA428559482	GLI2	c.4644C>A (p.Val1548=) c.4695C>A (p.Val1565=) c.3743C>A (n.3743C>A) c.2563C>A (n.2563C>A) c.3794C>A (n.3794C>A) c.2512C>A (n.2512C>A) c.4677C>A (p.Val1559=) c.4554C>A (p.Val1518=) c.4500C>A (p.Val1500=) c.4320C>A (p.Val1440=) c.4269C>A (p.Val1423=) c.4947C>A (p.Val1649=) c.4596C>A (p.Val1532=) c.4896C>A (p.Val1632=)	gnomAD v4
2	g.120990609C=	CA1283796196	GLI2	c.4644C= (p.Val1548=) c.4695C= (p.Val1565=) c.3743C= (n.3743C=) c.2563C= (n.2563C=) c.3794C= (n.3794C=) c.2512C= (n.2512C=) c.4677C= (p.Val1559=) c.4554C= (p.Val1518=) c.4500C= (p.Val1500=) c.4320C= (p.Val1440=) c.4269C= (p.Val1423=) c.4947C= (p.Val1649=) c.4596C= (p.Val1532=) c.4896C= (p.Val1632=)
2	g.120990609C>G	CA428559483	GLI2	c.4644C>G (p.Val1548=) c.4695C>G (p.Val1565=) c.3743C>G (n.3743C>G) c.2563C>G (n.2563C>G) c.3794C>G (n.3794C>G) c.2512C>G (n.2512C>G) c.4677C>G (p.Val1559=) c.4554C>G (p.Val1518=) c.4500C>G (p.Val1500=) c.4320C>G (p.Val1440=) c.4269C>G (p.Val1423=) c.4947C>G (p.Val1649=) c.4596C>G (p.Val1532=) c.4896C>G (p.Val1632=)
2	g.120990609C>T	CA1852682	GLI2	c.4644C>T (p.Val1548=) c.4695C>T (p.Val1565=) c.3743C>T (n.3743C>T) c.2563C>T (n.2563C>T) c.3794C>T (n.3794C>T) c.2512C>T (n.2512C>T) c.4677C>T (p.Val1559=) c.4554C>T (p.Val1518=) c.4500C>T (p.Val1500=) c.4320C>T (p.Val1440=) c.4269C>T (p.Val1423=) c.4947C>T (p.Val1649=) c.4596C>T (p.Val1532=) c.4896C>T (p.Val1632=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.120990610G>A	CA1852683	GLI2	c.4645G>A (p.Gly1549Arg) c.4696G>A (p.Gly1566Arg) c.3744G>A (n.3744G>A) c.2564G>A (n.2564G>A) c.3795G>A (n.3795G>A) c.2513G>A (n.2513G>A) c.4678G>A (p.Gly1560Arg) c.4555G>A (p.Gly1519Arg) c.4501G>A (p.Gly1501Arg) c.4321G>A (p.Gly1441Arg) c.4270G>A (p.Gly1424Arg) c.4948G>A (p.Gly1650Arg) c.4597G>A (p.Gly1533Arg) c.4897G>A (p.Gly1633Arg)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.120990610G>C	CA348180270	GLI2	c.4645G>C (p.Gly1549Arg) c.4696G>C (p.Gly1566Arg) c.3744G>C (n.3744G>C) c.2564G>C (n.2564G>C) c.3795G>C (n.3795G>C) c.2513G>C (n.2513G>C) c.4678G>C (p.Gly1560Arg) c.4555G>C (p.Gly1519Arg) c.4501G>C (p.Gly1501Arg) c.4321G>C (p.Gly1441Arg) c.4270G>C (p.Gly1424Arg) c.4948G>C (p.Gly1650Arg) c.4597G>C (p.Gly1533Arg) c.4897G>C (p.Gly1633Arg)
2	g.120990610G=	CA1283796197	GLI2	c.4645G= (p.Gly1549=) c.4696G= (p.Gly1566=) c.3744G= (n.3744G=) c.2564G= (n.2564G=) c.3795G= (n.3795G=) c.2513G= (n.2513G=) c.4678G= (p.Gly1560=) c.4555G= (p.Gly1519=) c.4501G= (p.Gly1501=) c.4321G= (p.Gly1441=) c.4270G= (p.Gly1424=) c.4948G= (p.Gly1650=) c.4597G= (p.Gly1533=) c.4897G= (p.Gly1633=)
2	g.120990610G>T	CA348180271	GLI2	c.4645G>T (p.Gly1549Trp) c.4696G>T (p.Gly1566Trp) c.3744G>T (n.3744G>T) c.2564G>T (n.2564G>T) c.3795G>T (n.3795G>T) c.2513G>T (n.2513G>T) c.4678G>T (p.Gly1560Trp) c.4555G>T (p.Gly1519Trp) c.4501G>T (p.Gly1501Trp) c.4321G>T (p.Gly1441Trp) c.4270G>T (p.Gly1424Trp) c.4948G>T (p.Gly1650Trp) c.4597G>T (p.Gly1533Trp) c.4897G>T (p.Gly1633Trp)
2	g.120990611G>A	CA348180272	GLI2	c.4646G>A (p.Gly1549Glu) c.4697G>A (p.Gly1566Glu) c.3745G>A (n.3745G>A) c.2565G>A (n.2565G>A) c.3796G>A (n.3796G>A) c.2514G>A (n.2514G>A) c.4679G>A (p.Gly1560Glu) c.4556G>A (p.Gly1519Glu) c.4502G>A (p.Gly1501Glu) c.4322G>A (p.Gly1441Glu) c.4271G>A (p.Gly1424Glu) c.4949G>A (p.Gly1650Glu) c.4598G>A (p.Gly1533Glu) c.4898G>A (p.Gly1633Glu)	COSMIC
2	g.120990611G>C	CA348180273	GLI2	c.4646G>C (p.Gly1549Ala) c.4697G>C (p.Gly1566Ala) c.3745G>C (n.3745G>C) c.2565G>C (n.2565G>C) c.3796G>C (n.3796G>C) c.2514G>C (n.2514G>C) c.4679G>C (p.Gly1560Ala) c.4556G>C (p.Gly1519Ala) c.4502G>C (p.Gly1501Ala) c.4322G>C (p.Gly1441Ala) c.4271G>C (p.Gly1424Ala) c.4949G>C (p.Gly1650Ala) c.4598G>C (p.Gly1533Ala) c.4898G>C (p.Gly1633Ala)
2	g.120990611G>T	CA348180274	GLI2	c.4646G>T (p.Gly1549Val) c.4697G>T (p.Gly1566Val) c.3745G>T (n.3745G>T) c.2565G>T (n.2565G>T) c.3796G>T (n.3796G>T) c.2514G>T (n.2514G>T) c.4679G>T (p.Gly1560Val) c.4556G>T (p.Gly1519Val) c.4502G>T (p.Gly1501Val) c.4322G>T (p.Gly1441Val) c.4271G>T (p.Gly1424Val) c.4949G>T (p.Gly1650Val) c.4598G>T (p.Gly1533Val) c.4898G>T (p.Gly1633Val)	gnomAD v4
2	g.120990612G>A	CA428559484	GLI2	c.4647G>A (p.Gly1549=) c.4698G>A (p.Gly1566=) c.3746G>A (n.3746G>A) c.2566G>A (n.2566G>A) c.3797G>A (n.3797G>A) c.2515G>A (n.2515G>A) c.4680G>A (p.Gly1560=) c.4557G>A (p.Gly1519=) c.4503G>A (p.Gly1501=) c.4323G>A (p.Gly1441=) c.4272G>A (p.Gly1424=) c.4950G>A (p.Gly1650=) c.4599G>A (p.Gly1533=) c.4899G>A (p.Gly1633=)	dbSNP gnomAD v3 gnomAD v4
2	g.120990612G>C	CA428559485	GLI2	c.4647G>C (p.Gly1549=) c.4698G>C (p.Gly1566=) c.3746G>C (n.3746G>C) c.2566G>C (n.2566G>C) c.3797G>C (n.3797G>C) c.2515G>C (n.2515G>C) c.4680G>C (p.Gly1560=) c.4557G>C (p.Gly1519=) c.4503G>C (p.Gly1501=) c.4323G>C (p.Gly1441=) c.4272G>C (p.Gly1424=) c.4950G>C (p.Gly1650=) c.4599G>C (p.Gly1533=) c.4899G>C (p.Gly1633=)
2	g.120990612G=	CA1283796198	GLI2	c.4647G= (p.Gly1549=) c.4698G= (p.Gly1566=) c.3746G= (n.3746G=) c.2566G= (n.2566G=) c.3797G= (n.3797G=) c.2515G= (n.2515G=) c.4680G= (p.Gly1560=) c.4557G= (p.Gly1519=) c.4503G= (p.Gly1501=) c.4323G= (p.Gly1441=) c.4272G= (p.Gly1424=) c.4950G= (p.Gly1650=) c.4599G= (p.Gly1533=) c.4899G= (p.Gly1633=)
2	g.120990612G>T	CA428559486	GLI2	c.4647G>T (p.Gly1549=) c.4698G>T (p.Gly1566=) c.3746G>T (n.3746G>T) c.2566G>T (n.2566G>T) c.3797G>T (n.3797G>T) c.2515G>T (n.2515G>T) c.4680G>T (p.Gly1560=) c.4557G>T (p.Gly1519=) c.4503G>T (p.Gly1501=) c.4323G>T (p.Gly1441=) c.4272G>T (p.Gly1424=) c.4950G>T (p.Gly1650=) c.4599G>T (p.Gly1533=) c.4899G>T (p.Gly1633=)
2	g.120990613G>A	CA348180275	GLI2	c.4648G>A (p.Asp1550Asn) c.4699G>A (p.Asp1567Asn) c.3747G>A (n.3747G>A) c.2567G>A (n.2567G>A) c.3798G>A (n.3798G>A) c.2516G>A (n.2516G>A) c.4681G>A (p.Asp1561Asn) c.4558G>A (p.Asp1520Asn) c.4504G>A (p.Asp1502Asn) c.4324G>A (p.Asp1442Asn) c.4273G>A (p.Asp1425Asn) c.4951G>A (p.Asp1651Asn) c.4600G>A (p.Asp1534Asn) c.4900G>A (p.Asp1634Asn)	dbSNP
2	g.120990613G>C	CA348180276	GLI2	c.4648G>C (p.Asp1550His) c.4699G>C (p.Asp1567His) c.3747G>C (n.3747G>C) c.2567G>C (n.2567G>C) c.3798G>C (n.3798G>C) c.2516G>C (n.2516G>C) c.4681G>C (p.Asp1561His) c.4558G>C (p.Asp1520His) c.4504G>C (p.Asp1502His) c.4324G>C (p.Asp1442His) c.4273G>C (p.Asp1425His) c.4951G>C (p.Asp1651His) c.4600G>C (p.Asp1534His) c.4900G>C (p.Asp1634His)
2	g.120990613G=	CA1283796199	GLI2	c.4648G= (p.Asp1550=) c.4699G= (p.Asp1567=) c.3747G= (n.3747G=) c.2567G= (n.2567G=) c.3798G= (n.3798G=) c.2516G= (n.2516G=) c.4681G= (p.Asp1561=) c.4558G= (p.Asp1520=) c.4504G= (p.Asp1502=) c.4324G= (p.Asp1442=) c.4273G= (p.Asp1425=) c.4951G= (p.Asp1651=) c.4600G= (p.Asp1534=) c.4900G= (p.Asp1634=)
2	g.120990613G>T	CA348180277	GLI2	c.4648G>T (p.Asp1550Tyr) c.4699G>T (p.Asp1567Tyr) c.3747G>T (n.3747G>T) c.2567G>T (n.2567G>T) c.3798G>T (n.3798G>T) c.2516G>T (n.2516G>T) c.4681G>T (p.Asp1561Tyr) c.4558G>T (p.Asp1520Tyr) c.4504G>T (p.Asp1502Tyr) c.4324G>T (p.Asp1442Tyr) c.4273G>T (p.Asp1425Tyr) c.4951G>T (p.Asp1651Tyr) c.4600G>T (p.Asp1534Tyr) c.4900G>T (p.Asp1634Tyr)
2	g.120990614A=	CA1283796200	GLI2	c.4649A= (p.Asp1550=) c.4700A= (p.Asp1567=) c.3748A= (n.3748A=) c.2568A= (n.2568A=) c.3799A= (n.3799A=) c.2517A= (n.2517A=) c.4682A= (p.Asp1561=) c.4559A= (p.Asp1520=) c.4505A= (p.Asp1502=) c.4325A= (p.Asp1442=) c.4274A= (p.Asp1425=) c.4952A= (p.Asp1651=) c.4601A= (p.Asp1534=) c.4901A= (p.Asp1634=)
2	g.120990614A>C	CA348180280	GLI2	c.4649A>C (p.Asp1550Ala) c.4700A>C (p.Asp1567Ala) c.3748A>C (n.3748A>C) c.2568A>C (n.2568A>C) c.3799A>C (n.3799A>C) c.2517A>C (n.2517A>C) c.4682A>C (p.Asp1561Ala) c.4559A>C (p.Asp1520Ala) c.4505A>C (p.Asp1502Ala) c.4325A>C (p.Asp1442Ala) c.4274A>C (p.Asp1425Ala) c.4952A>C (p.Asp1651Ala) c.4601A>C (p.Asp1534Ala) c.4901A>C (p.Asp1634Ala)
2	g.120990614A>G	CA348180279	GLI2	c.4649A>G (p.Asp1550Gly) c.4700A>G (p.Asp1567Gly) c.3748A>G (n.3748A>G) c.2568A>G (n.2568A>G) c.3799A>G (n.3799A>G) c.2517A>G (n.2517A>G) c.4682A>G (p.Asp1561Gly) c.4559A>G (p.Asp1520Gly) c.4505A>G (p.Asp1502Gly) c.4325A>G (p.Asp1442Gly) c.4274A>G (p.Asp1425Gly) c.4952A>G (p.Asp1651Gly) c.4601A>G (p.Asp1534Gly) c.4901A>G (p.Asp1634Gly)	dbSNP
2	g.120990614A>T	CA348180278	GLI2	c.4649A>T (p.Asp1550Val) c.4700A>T (p.Asp1567Val) c.3748A>T (n.3748A>T) c.2568A>T (n.2568A>T) c.3799A>T (n.3799A>T) c.2517A>T (n.2517A>T) c.4682A>T (p.Asp1561Val) c.4559A>T (p.Asp1520Val) c.4505A>T (p.Asp1502Val) c.4325A>T (p.Asp1442Val) c.4274A>T (p.Asp1425Val) c.4952A>T (p.Asp1651Val) c.4601A>T (p.Asp1534Val) c.4901A>T (p.Asp1634Val)
2	g.120990615C>A	CA348180281	GLI2	c.4650C>A (p.Asp1550Glu) c.4701C>A (p.Asp1567Glu) c.3749C>A (n.3749C>A) c.2569C>A (n.2569C>A) c.3800C>A (n.3800C>A) c.2518C>A (n.2518C>A) c.4683C>A (p.Asp1561Glu) c.4560C>A (p.Asp1520Glu) c.4506C>A (p.Asp1502Glu) c.4326C>A (p.Asp1442Glu) c.4275C>A (p.Asp1425Glu) c.4953C>A (p.Asp1651Glu) c.4602C>A (p.Asp1534Glu) c.4902C>A (p.Asp1634Glu)
2	g.120990615C=	CA1283796201	GLI2	c.4650C= (p.Asp1550=) c.4701C= (p.Asp1567=) c.3749C= (n.3749C=) c.2569C= (n.2569C=) c.3800C= (n.3800C=) c.2518C= (n.2518C=) c.4683C= (p.Asp1561=) c.4560C= (p.Asp1520=) c.4506C= (p.Asp1502=) c.4326C= (p.Asp1442=) c.4275C= (p.Asp1425=) c.4953C= (p.Asp1651=) c.4602C= (p.Asp1534=) c.4902C= (p.Asp1634=)
2	g.120990615C>G	CA348180282	GLI2	c.4650C>G (p.Asp1550Glu) c.4701C>G (p.Asp1567Glu) c.3749C>G (n.3749C>G) c.2569C>G (n.2569C>G) c.3800C>G (n.3800C>G) c.2518C>G (n.2518C>G) c.4683C>G (p.Asp1561Glu) c.4560C>G (p.Asp1520Glu) c.4506C>G (p.Asp1502Glu) c.4326C>G (p.Asp1442Glu) c.4275C>G (p.Asp1425Glu) c.4953C>G (p.Asp1651Glu) c.4602C>G (p.Asp1534Glu) c.4902C>G (p.Asp1634Glu)
2	g.120990615C>T	CA428559487	GLI2	c.4650C>T (p.Asp1550=) c.4701C>T (p.Asp1567=) c.3749C>T (n.3749C>T) c.2569C>T (n.2569C>T) c.3800C>T (n.3800C>T) c.2518C>T (n.2518C>T) c.4683C>T (p.Asp1561=) c.4560C>T (p.Asp1520=) c.4506C>T (p.Asp1502=) c.4326C>T (p.Asp1442=) c.4275C>T (p.Asp1425=) c.4953C>T (p.Asp1651=) c.4602C>T (p.Asp1534=) c.4902C>T (p.Asp1634=)	dbSNP
2	g.120990616A>C	CA348180283	GLI2	c.4651A>C (p.Met1551Leu) c.4702A>C (p.Met1568Leu) c.3750A>C (n.3750A>C) c.2570A>C (n.2570A>C) c.3801A>C (n.3801A>C) c.2519A>C (n.2519A>C) c.4684A>C (p.Met1562Leu) c.4561A>C (p.Met1521Leu) c.4507A>C (p.Met1503Leu) c.4327A>C (p.Met1443Leu) c.4276A>C (p.Met1426Leu) c.4954A>C (p.Met1652Leu) c.4603A>C (p.Met1535Leu) c.4903A>C (p.Met1635Leu)	gnomAD v4
2	g.120990616A>G	CA348180284	GLI2	c.4651A>G (p.Met1551Val) c.4702A>G (p.Met1568Val) c.3750A>G (n.3750A>G) c.2570A>G (n.2570A>G) c.3801A>G (n.3801A>G) c.2519A>G (n.2519A>G) c.4684A>G (p.Met1562Val) c.4561A>G (p.Met1521Val) c.4507A>G (p.Met1503Val) c.4327A>G (p.Met1443Val) c.4276A>G (p.Met1426Val) c.4954A>G (p.Met1652Val) c.4603A>G (p.Met1535Val) c.4903A>G (p.Met1635Val)
2	g.120990616A>T	CA348180285	GLI2	c.4651A>T (p.Met1551Leu) c.4702A>T (p.Met1568Leu) c.3750A>T (n.3750A>T) c.2570A>T (n.2570A>T) c.3801A>T (n.3801A>T) c.2519A>T (n.2519A>T) c.4684A>T (p.Met1562Leu) c.4561A>T (p.Met1521Leu) c.4507A>T (p.Met1503Leu) c.4327A>T (p.Met1443Leu) c.4276A>T (p.Met1426Leu) c.4954A>T (p.Met1652Leu) c.4603A>T (p.Met1535Leu) c.4903A>T (p.Met1635Leu)
2	g.120990617T>A	CA348180286	GLI2	c.4652T>A (p.Met1551Lys) c.4703T>A (p.Met1568Lys) c.3751T>A (n.3751T>A) c.2571T>A (n.2571T>A) c.3802T>A (n.3802T>A) c.2520T>A (n.2520T>A) c.4685T>A (p.Met1562Lys) c.4562T>A (p.Met1521Lys) c.4508T>A (p.Met1503Lys) c.4328T>A (p.Met1443Lys) c.4277T>A (p.Met1426Lys) c.4955T>A (p.Met1652Lys) c.4604T>A (p.Met1535Lys) c.4904T>A (p.Met1635Lys)
2	g.120990617T>C	CA348180287	GLI2	c.4652T>C (p.Met1551Thr) c.4703T>C (p.Met1568Thr) c.3751T>C (n.3751T>C) c.2571T>C (n.2571T>C) c.3802T>C (n.3802T>C) c.2520T>C (n.2520T>C) c.4685T>C (p.Met1562Thr) c.4562T>C (p.Met1521Thr) c.4508T>C (p.Met1503Thr) c.4328T>C (p.Met1443Thr) c.4277T>C (p.Met1426Thr) c.4955T>C (p.Met1652Thr) c.4604T>C (p.Met1535Thr) c.4904T>C (p.Met1635Thr)
2	g.120990617T>G	CA348180288	GLI2	c.4652T>G (p.Met1551Arg) c.4703T>G (p.Met1568Arg) c.3751T>G (n.3751T>G) c.2571T>G (n.2571T>G) c.3802T>G (n.3802T>G) c.2520T>G (n.2520T>G) c.4685T>G (p.Met1562Arg) c.4562T>G (p.Met1521Arg) c.4508T>G (p.Met1503Arg) c.4328T>G (p.Met1443Arg) c.4277T>G (p.Met1426Arg) c.4955T>G (p.Met1652Arg) c.4604T>G (p.Met1535Arg) c.4904T>G (p.Met1635Arg)
2	g.120990618G>A	CA348180289	GLI2	c.4653G>A (p.Met1551Ile) c.4704G>A (p.Met1568Ile) c.3752G>A (n.3752G>A) c.2572G>A (n.2572G>A) c.3803G>A (n.3803G>A) c.2521G>A (n.2521G>A) c.4686G>A (p.Met1562Ile) c.4563G>A (p.Met1521Ile) c.4509G>A (p.Met1503Ile) c.4329G>A (p.Met1443Ile) c.4278G>A (p.Met1426Ile) c.4956G>A (p.Met1652Ile) c.4605G>A (p.Met1535Ile) c.4905G>A (p.Met1635Ile)	gnomAD v4
2	g.120990618G>C	CA348180290	GLI2	c.4653G>C (p.Met1551Ile) c.4704G>C (p.Met1568Ile) c.3752G>C (n.3752G>C) c.2572G>C (n.2572G>C) c.3803G>C (n.3803G>C) c.2521G>C (n.2521G>C) c.4686G>C (p.Met1562Ile) c.4563G>C (p.Met1521Ile) c.4509G>C (p.Met1503Ile) c.4329G>C (p.Met1443Ile) c.4278G>C (p.Met1426Ile) c.4956G>C (p.Met1652Ile) c.4605G>C (p.Met1535Ile) c.4905G>C (p.Met1635Ile)
2	g.120990618G>T	CA348180291	GLI2	c.4653G>T (p.Met1551Ile) c.4704G>T (p.Met1568Ile) c.3752G>T (n.3752G>T) c.2572G>T (n.2572G>T) c.3803G>T (n.3803G>T) c.2521G>T (n.2521G>T) c.4686G>T (p.Met1562Ile) c.4563G>T (p.Met1521Ile) c.4509G>T (p.Met1503Ile) c.4329G>T (p.Met1443Ile) c.4278G>T (p.Met1426Ile) c.4956G>T (p.Met1652Ile) c.4605G>T (p.Met1535Ile) c.4905G>T (p.Met1635Ile)
2	g.120990619A>C	CA348180292	GLI2	c.4654A>C (p.Ser1552Arg) c.4705A>C (p.Ser1569Arg) c.3753A>C (n.3753A>C) c.2573A>C (n.2573A>C) c.3804A>C (n.3804A>C) c.2522A>C (n.2522A>C) c.4687A>C (p.Ser1563Arg) c.4564A>C (p.Ser1522Arg) c.4510A>C (p.Ser1504Arg) c.4330A>C (p.Ser1444Arg) c.4279A>C (p.Ser1427Arg) c.4957A>C (p.Ser1653Arg) c.4606A>C (p.Ser1536Arg) c.4906A>C (p.Ser1636Arg)
2	g.120990619A>G	CA348180293	GLI2	c.4654A>G (p.Ser1552Gly) c.4705A>G (p.Ser1569Gly) c.3753A>G (n.3753A>G) c.2573A>G (n.2573A>G) c.3804A>G (n.3804A>G) c.2522A>G (n.2522A>G) c.4687A>G (p.Ser1563Gly) c.4564A>G (p.Ser1522Gly) c.4510A>G (p.Ser1504Gly) c.4330A>G (p.Ser1444Gly) c.4279A>G (p.Ser1427Gly) c.4957A>G (p.Ser1653Gly) c.4606A>G (p.Ser1536Gly) c.4906A>G (p.Ser1636Gly)	gnomAD v4
2	g.120990619A>T	CA348180294	GLI2	c.4654A>T (p.Ser1552Cys) c.4705A>T (p.Ser1569Cys) c.3753A>T (n.3753A>T) c.2573A>T (n.2573A>T) c.3804A>T (n.3804A>T) c.2522A>T (n.2522A>T) c.4687A>T (p.Ser1563Cys) c.4564A>T (p.Ser1522Cys) c.4510A>T (p.Ser1504Cys) c.4330A>T (p.Ser1444Cys) c.4279A>T (p.Ser1427Cys) c.4957A>T (p.Ser1653Cys) c.4606A>T (p.Ser1536Cys) c.4906A>T (p.Ser1636Cys)
2	g.120990620G>A	CA348180297	GLI2	c.4655G>A (p.Ser1552Asn) c.4706G>A (p.Ser1569Asn) c.3754G>A (n.3754G>A) c.2574G>A (n.2574G>A) c.3805G>A (n.3805G>A) c.2523G>A (n.2523G>A) c.4688G>A (p.Ser1563Asn) c.4565G>A (p.Ser1522Asn) c.4511G>A (p.Ser1504Asn) c.4331G>A (p.Ser1444Asn) c.4280G>A (p.Ser1427Asn) c.4958G>A (p.Ser1653Asn) c.4607G>A (p.Ser1536Asn) c.4907G>A (p.Ser1636Asn)	dbSNP gnomAD v4
2	g.120990620G>C	CA348180295	GLI2	c.4655G>C (p.Ser1552Thr) c.4706G>C (p.Ser1569Thr) c.3754G>C (n.3754G>C) c.2574G>C (n.2574G>C) c.3805G>C (n.3805G>C) c.2523G>C (n.2523G>C) c.4688G>C (p.Ser1563Thr) c.4565G>C (p.Ser1522Thr) c.4511G>C (p.Ser1504Thr) c.4331G>C (p.Ser1444Thr) c.4280G>C (p.Ser1427Thr) c.4958G>C (p.Ser1653Thr) c.4607G>C (p.Ser1536Thr) c.4907G>C (p.Ser1636Thr)
2	g.120990620G=	CA1283796202	GLI2	c.4655G= (p.Ser1552=) c.4706G= (p.Ser1569=) c.3754G= (n.3754G=) c.2574G= (n.2574G=) c.3805G= (n.3805G=) c.2523G= (n.2523G=) c.4688G= (p.Ser1563=) c.4565G= (p.Ser1522=) c.4511G= (p.Ser1504=) c.4331G= (p.Ser1444=) c.4280G= (p.Ser1427=) c.4958G= (p.Ser1653=) c.4607G= (p.Ser1536=) c.4907G= (p.Ser1636=)
2	g.120990620G>T	CA348180296	GLI2	c.4655G>T (p.Ser1552Ile) c.4706G>T (p.Ser1569Ile) c.3754G>T (n.3754G>T) c.2574G>T (n.2574G>T) c.3805G>T (n.3805G>T) c.2523G>T (n.2523G>T) c.4688G>T (p.Ser1563Ile) c.4565G>T (p.Ser1522Ile) c.4511G>T (p.Ser1504Ile) c.4331G>T (p.Ser1444Ile) c.4280G>T (p.Ser1427Ile) c.4958G>T (p.Ser1653Ile) c.4607G>T (p.Ser1536Ile) c.4907G>T (p.Ser1636Ile)
2	g.120990621C>A	CA348180298	GLI2	c.4656C>A (p.Ser1552Arg) c.4707C>A (p.Ser1569Arg) c.3755C>A (n.3755C>A) c.2575C>A (n.2575C>A) c.3806C>A (n.3806C>A) c.2524C>A (n.2524C>A) c.4689C>A (p.Ser1563Arg) c.4566C>A (p.Ser1522Arg) c.4512C>A (p.Ser1504Arg) c.4332C>A (p.Ser1444Arg) c.4281C>A (p.Ser1427Arg) c.4959C>A (p.Ser1653Arg) c.4608C>A (p.Ser1536Arg) c.4908C>A (p.Ser1636Arg)
2	g.120990621C=	CA1283796203	GLI2	c.4656C= (p.Ser1552=) c.4707C= (p.Ser1569=) c.3755C= (n.3755C=) c.2575C= (n.2575C=) c.3806C= (n.3806C=) c.2524C= (n.2524C=) c.4689C= (p.Ser1563=) c.4566C= (p.Ser1522=) c.4512C= (p.Ser1504=) c.4332C= (p.Ser1444=) c.4281C= (p.Ser1427=) c.4959C= (p.Ser1653=) c.4608C= (p.Ser1536=) c.4908C= (p.Ser1636=)
2	g.120990621C>G	CA348180299	GLI2	c.4656C>G (p.Ser1552Arg) c.4707C>G (p.Ser1569Arg) c.3755C>G (n.3755C>G) c.2575C>G (n.2575C>G) c.3806C>G (n.3806C>G) c.2524C>G (n.2524C>G) c.4689C>G (p.Ser1563Arg) c.4566C>G (p.Ser1522Arg) c.4512C>G (p.Ser1504Arg) c.4332C>G (p.Ser1444Arg) c.4281C>G (p.Ser1427Arg) c.4959C>G (p.Ser1653Arg) c.4608C>G (p.Ser1536Arg) c.4908C>G (p.Ser1636Arg)	gnomAD v4
2	g.120990621C>T	CA428559488	GLI2	c.4656C>T (p.Ser1552=) c.4707C>T (p.Ser1569=) c.3755C>T (n.3755C>T) c.2575C>T (n.2575C>T) c.3806C>T (n.3806C>T) c.2524C>T (n.2524C>T) c.4689C>T (p.Ser1563=) c.4566C>T (p.Ser1522=) c.4512C>T (p.Ser1504=) c.4332C>T (p.Ser1444=) c.4281C>T (p.Ser1427=) c.4959C>T (p.Ser1653=) c.4608C>T (p.Ser1536=) c.4908C>T (p.Ser1636=)	dbSNP gnomAD v3 gnomAD v4
2	g.120990622T>A	CA348180300	GLI2	c.4657T>A (p.Ser1553Thr) c.4708T>A (p.Ser1570Thr) c.3756T>A (n.3756T>A) c.2576T>A (n.2576T>A) c.3807T>A (n.3807T>A) c.2525T>A (n.2525T>A) c.4690T>A (p.Ser1564Thr) c.4567T>A (p.Ser1523Thr) c.4513T>A (p.Ser1505Thr) c.4333T>A (p.Ser1445Thr) c.4282T>A (p.Ser1428Thr) c.4960T>A (p.Ser1654Thr) c.4609T>A (p.Ser1537Thr) c.4909T>A (p.Ser1637Thr)
2	g.120990622T>C	CA348180301	GLI2	c.4657T>C (p.Ser1553Pro) c.4708T>C (p.Ser1570Pro) c.3756T>C (n.3756T>C) c.2576T>C (n.2576T>C) c.3807T>C (n.3807T>C) c.2525T>C (n.2525T>C) c.4690T>C (p.Ser1564Pro) c.4567T>C (p.Ser1523Pro) c.4513T>C (p.Ser1505Pro) c.4333T>C (p.Ser1445Pro) c.4282T>C (p.Ser1428Pro) c.4960T>C (p.Ser1654Pro) c.4609T>C (p.Ser1537Pro) c.4909T>C (p.Ser1637Pro)
2	g.120990622T>G	CA348180302	GLI2	c.4657T>G (p.Ser1553Ala) c.4708T>G (p.Ser1570Ala) c.3756T>G (n.3756T>G) c.2576T>G (n.2576T>G) c.3807T>G (n.3807T>G) c.2525T>G (n.2525T>G) c.4690T>G (p.Ser1564Ala) c.4567T>G (p.Ser1523Ala) c.4513T>G (p.Ser1505Ala) c.4333T>G (p.Ser1445Ala) c.4282T>G (p.Ser1428Ala) c.4960T>G (p.Ser1654Ala) c.4609T>G (p.Ser1537Ala) c.4909T>G (p.Ser1637Ala)
2	g.120990623C>A	CA348180303	GLI2	c.4658C>A (p.Ser1553Tyr) c.4709C>A (p.Ser1570Tyr) c.3757C>A (n.3757C>A) c.2577C>A (n.2577C>A) c.3808C>A (n.3808C>A) c.2526C>A (n.2526C>A) c.4691C>A (p.Ser1564Tyr) c.4568C>A (p.Ser1523Tyr) c.4514C>A (p.Ser1505Tyr) c.4334C>A (p.Ser1445Tyr) c.4283C>A (p.Ser1428Tyr) c.4961C>A (p.Ser1654Tyr) c.4610C>A (p.Ser1537Tyr) c.4910C>A (p.Ser1637Tyr)
2	g.120990623C=	CA1283796204	GLI2	c.4658C= (p.Ser1553=) c.4709C= (p.Ser1570=) c.3757C= (n.3757C=) c.2577C= (n.2577C=) c.3808C= (n.3808C=) c.2526C= (n.2526C=) c.4691C= (p.Ser1564=) c.4568C= (p.Ser1523=) c.4514C= (p.Ser1505=) c.4334C= (p.Ser1445=) c.4283C= (p.Ser1428=) c.4961C= (p.Ser1654=) c.4610C= (p.Ser1537=) c.4910C= (p.Ser1637=)
2	g.120990623C>G	CA348180304	GLI2	c.4658C>G (p.Ser1553Cys) c.4709C>G (p.Ser1570Cys) c.3757C>G (n.3757C>G) c.2577C>G (n.2577C>G) c.3808C>G (n.3808C>G) c.2526C>G (n.2526C>G) c.4691C>G (p.Ser1564Cys) c.4568C>G (p.Ser1523Cys) c.4514C>G (p.Ser1505Cys) c.4334C>G (p.Ser1445Cys) c.4283C>G (p.Ser1428Cys) c.4961C>G (p.Ser1654Cys) c.4610C>G (p.Ser1537Cys) c.4910C>G (p.Ser1637Cys)
2	g.120990623C>T	CA54386612	GLI2	c.4658C>T (p.Ser1553Phe) c.4709C>T (p.Ser1570Phe) c.3757C>T (n.3757C>T) c.2577C>T (n.2577C>T) c.3808C>T (n.3808C>T) c.2526C>T (n.2526C>T) c.4691C>T (p.Ser1564Phe) c.4568C>T (p.Ser1523Phe) c.4514C>T (p.Ser1505Phe) c.4334C>T (p.Ser1445Phe) c.4283C>T (p.Ser1428Phe) c.4961C>T (p.Ser1654Phe) c.4610C>T (p.Ser1537Phe) c.4910C>T (p.Ser1637Phe)	dbSNP COSMIC
2	g.120990624del	CA2577084729	GLI2	c.4659del (p.Met1554CysfsTer12) c.4710del (p.Met1571CysfsTer12) c.3758del (n.3758del) c.2578del (n.2578del) c.3809del (n.3809del) c.2527del (n.2527del) c.4692del (p.Met1565CysfsTer12) c.4569del (p.Met1524CysfsTer12) c.4515del (p.Met1506CysfsTer12) c.4335del (p.Met1446CysfsTer12) c.4284del (p.Met1429CysfsTer12) c.4962del (p.Met1655CysfsTer12) c.4611del (p.Met1538CysfsTer12) c.4911del (p.Met1638CysfsTer12)
2	g.120990624C>A	CA428559489	GLI2	c.4659C>A (p.Ser1553=) c.4710C>A (p.Ser1570=) c.3758C>A (n.3758C>A) c.2578C>A (n.2578C>A) c.3809C>A (n.3809C>A) c.2527C>A (n.2527C>A) c.4692C>A (p.Ser1564=) c.4569C>A (p.Ser1523=) c.4515C>A (p.Ser1505=) c.4335C>A (p.Ser1445=) c.4284C>A (p.Ser1428=) c.4962C>A (p.Ser1654=) c.4611C>A (p.Ser1537=) c.4911C>A (p.Ser1637=)
2	g.120990624C=	CA1283796205	GLI2	c.4659C= (p.Ser1553=) c.4710C= (p.Ser1570=) c.3758C= (n.3758C=) c.2578C= (n.2578C=) c.3809C= (n.3809C=) c.2527C= (n.2527C=) c.4692C= (p.Ser1564=) c.4569C= (p.Ser1523=) c.4515C= (p.Ser1505=) c.4335C= (p.Ser1445=) c.4284C= (p.Ser1428=) c.4962C= (p.Ser1654=) c.4611C= (p.Ser1537=) c.4911C= (p.Ser1637=)
2	g.120990624C>G	CA428559491	GLI2	c.4659C>G (p.Ser1553=) c.4710C>G (p.Ser1570=) c.3758C>G (n.3758C>G) c.2578C>G (n.2578C>G) c.3809C>G (n.3809C>G) c.2527C>G (n.2527C>G) c.4692C>G (p.Ser1564=) c.4569C>G (p.Ser1523=) c.4515C>G (p.Ser1505=) c.4335C>G (p.Ser1445=) c.4284C>G (p.Ser1428=) c.4962C>G (p.Ser1654=) c.4611C>G (p.Ser1537=) c.4911C>G (p.Ser1637=)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.120990624C>T	CA428559490	GLI2	c.4659C>T (p.Ser1553=) c.4710C>T (p.Ser1570=) c.3758C>T (n.3758C>T) c.2578C>T (n.2578C>T) c.3809C>T (n.3809C>T) c.2527C>T (n.2527C>T) c.4692C>T (p.Ser1564=) c.4569C>T (p.Ser1523=) c.4515C>T (p.Ser1505=) c.4335C>T (p.Ser1445=) c.4284C>T (p.Ser1428=) c.4962C>T (p.Ser1654=) c.4611C>T (p.Ser1537=) c.4911C>T (p.Ser1637=)
2	g.120990625A=	CA1283796206	GLI2	c.4660A= (p.Met1554=) c.4711A= (p.Met1571=) c.3759A= (n.3759A=) c.2579A= (n.2579A=) c.3810A= (n.3810A=) c.2528A= (n.2528A=) c.4693A= (p.Met1565=) c.4570A= (p.Met1524=) c.4516A= (p.Met1506=) c.4336A= (p.Met1446=) c.4285A= (p.Met1429=) c.4963A= (p.Met1655=) c.4612A= (p.Met1538=) c.4912A= (p.Met1638=)
2	g.120990625A>C	CA348180305	GLI2	c.4660A>C (p.Met1554Leu) c.4711A>C (p.Met1571Leu) c.3759A>C (n.3759A>C) c.2579A>C (n.2579A>C) c.3810A>C (n.3810A>C) c.2528A>C (n.2528A>C) c.4693A>C (p.Met1565Leu) c.4570A>C (p.Met1524Leu) c.4516A>C (p.Met1506Leu) c.4336A>C (p.Met1446Leu) c.4285A>C (p.Met1429Leu) c.4963A>C (p.Met1655Leu) c.4612A>C (p.Met1538Leu) c.4912A>C (p.Met1638Leu)
2	g.120990625A>G	CA348180306	GLI2	c.4660A>G (p.Met1554Val) c.4711A>G (p.Met1571Val) c.3759A>G (n.3759A>G) c.2579A>G (n.2579A>G) c.3810A>G (n.3810A>G) c.2528A>G (n.2528A>G) c.4693A>G (p.Met1565Val) c.4570A>G (p.Met1524Val) c.4516A>G (p.Met1506Val) c.4336A>G (p.Met1446Val) c.4285A>G (p.Met1429Val) c.4963A>G (p.Met1655Val) c.4612A>G (p.Met1538Val) c.4912A>G (p.Met1638Val)	dbSNP
2	g.120990625A>T	CA348180307	GLI2	c.4660A>T (p.Met1554Leu) c.4711A>T (p.Met1571Leu) c.3759A>T (n.3759A>T) c.2579A>T (n.2579A>T) c.3810A>T (n.3810A>T) c.2528A>T (n.2528A>T) c.4693A>T (p.Met1565Leu) c.4570A>T (p.Met1524Leu) c.4516A>T (p.Met1506Leu) c.4336A>T (p.Met1446Leu) c.4285A>T (p.Met1429Leu) c.4963A>T (p.Met1655Leu) c.4612A>T (p.Met1538Leu) c.4912A>T (p.Met1638Leu)
2	g.120990626T>A	CA348180310	GLI2	c.4661T>A (p.Met1554Lys) c.4712T>A (p.Met1571Lys) c.3760T>A (n.3760T>A) c.2580T>A (n.2580T>A) c.3811T>A (n.3811T>A) c.2529T>A (n.2529T>A) c.4694T>A (p.Met1565Lys) c.4571T>A (p.Met1524Lys) c.4517T>A (p.Met1506Lys) c.4337T>A (p.Met1446Lys) c.4286T>A (p.Met1429Lys) c.4964T>A (p.Met1655Lys) c.4613T>A (p.Met1538Lys) c.4913T>A (p.Met1638Lys)
2	g.120990626T>C	CA348180309	GLI2	c.4661T>C (p.Met1554Thr) c.4712T>C (p.Met1571Thr) c.3760T>C (n.3760T>C) c.2580T>C (n.2580T>C) c.3811T>C (n.3811T>C) c.2529T>C (n.2529T>C) c.4694T>C (p.Met1565Thr) c.4571T>C (p.Met1524Thr) c.4517T>C (p.Met1506Thr) c.4337T>C (p.Met1446Thr) c.4286T>C (p.Met1429Thr) c.4964T>C (p.Met1655Thr) c.4613T>C (p.Met1538Thr) c.4913T>C (p.Met1638Thr)
2	g.120990626T>G	CA348180308	GLI2	c.4661T>G (p.Met1554Arg) c.4712T>G (p.Met1571Arg) c.3760T>G (n.3760T>G) c.2580T>G (n.2580T>G) c.3811T>G (n.3811T>G) c.2529T>G (n.2529T>G) c.4694T>G (p.Met1565Arg) c.4571T>G (p.Met1524Arg) c.4517T>G (p.Met1506Arg) c.4337T>G (p.Met1446Arg) c.4286T>G (p.Met1429Arg) c.4964T>G (p.Met1655Arg) c.4613T>G (p.Met1538Arg) c.4913T>G (p.Met1638Arg)
2	g.120990627G>A	CA348180311	GLI2	c.4662G>A (p.Met1554Ile) c.4713G>A (p.Met1571Ile) c.3761G>A (n.3761G>A) c.2581G>A (n.2581G>A) c.3812G>A (n.3812G>A) c.2530G>A (n.2530G>A) c.4695G>A (p.Met1565Ile) c.4572G>A (p.Met1524Ile) c.4518G>A (p.Met1506Ile) c.4338G>A (p.Met1446Ile) c.4287G>A (p.Met1429Ile) c.4965G>A (p.Met1655Ile) c.4614G>A (p.Met1538Ile) c.4914G>A (p.Met1638Ile)
2	g.120990627G>C	CA348180312	GLI2	c.4662G>C (p.Met1554Ile) c.4713G>C (p.Met1571Ile) c.3761G>C (n.3761G>C) c.2581G>C (n.2581G>C) c.3812G>C (n.3812G>C) c.2530G>C (n.2530G>C) c.4695G>C (p.Met1565Ile) c.4572G>C (p.Met1524Ile) c.4518G>C (p.Met1506Ile) c.4338G>C (p.Met1446Ile) c.4287G>C (p.Met1429Ile) c.4965G>C (p.Met1655Ile) c.4614G>C (p.Met1538Ile) c.4914G>C (p.Met1638Ile)
2	g.120990627G>T	CA348180313	GLI2	c.4662G>T (p.Met1554Ile) c.4713G>T (p.Met1571Ile) c.3761G>T (n.3761G>T) c.2581G>T (n.2581G>T) c.3812G>T (n.3812G>T) c.2530G>T (n.2530G>T) c.4695G>T (p.Met1565Ile) c.4572G>T (p.Met1524Ile) c.4518G>T (p.Met1506Ile) c.4338G>T (p.Met1446Ile) c.4287G>T (p.Met1429Ile) c.4965G>T (p.Met1655Ile) c.4614G>T (p.Met1538Ile) c.4914G>T (p.Met1638Ile)
2	g.120990628C>A	CA348180314	GLI2	c.4663C>A (p.Leu1555Ile) c.4714C>A (p.Leu1572Ile) c.3762C>A (n.3762C>A) c.2582C>A (n.2582C>A) c.3813C>A (n.3813C>A) c.2531C>A (n.2531C>A) c.4696C>A (p.Leu1566Ile) c.4573C>A (p.Leu1525Ile) c.4519C>A (p.Leu1507Ile) c.4339C>A (p.Leu1447Ile) c.4288C>A (p.Leu1430Ile) c.4966C>A (p.Leu1656Ile) c.4615C>A (p.Leu1539Ile) c.4915C>A (p.Leu1639Ile)
2	g.120990628C>G	CA348180315	GLI2	c.4663C>G (p.Leu1555Val) c.4714C>G (p.Leu1572Val) c.3762C>G (n.3762C>G) c.2582C>G (n.2582C>G) c.3813C>G (n.3813C>G) c.2531C>G (n.2531C>G) c.4696C>G (p.Leu1566Val) c.4573C>G (p.Leu1525Val) c.4519C>G (p.Leu1507Val) c.4339C>G (p.Leu1447Val) c.4288C>G (p.Leu1430Val) c.4966C>G (p.Leu1656Val) c.4615C>G (p.Leu1539Val) c.4915C>G (p.Leu1639Val)
2	g.120990628C>T	CA348180316	GLI2	c.4663C>T (p.Leu1555Phe) c.4714C>T (p.Leu1572Phe) c.3762C>T (n.3762C>T) c.2582C>T (n.2582C>T) c.3813C>T (n.3813C>T) c.2531C>T (n.2531C>T) c.4696C>T (p.Leu1566Phe) c.4573C>T (p.Leu1525Phe) c.4519C>T (p.Leu1507Phe) c.4339C>T (p.Leu1447Phe) c.4288C>T (p.Leu1430Phe) c.4966C>T (p.Leu1656Phe) c.4615C>T (p.Leu1539Phe) c.4915C>T (p.Leu1639Phe)
2	g.120990629T>A	CA348180317	GLI2	c.4664T>A (p.Leu1555His) c.4715T>A (p.Leu1572His) c.3763T>A (n.3763T>A) c.2583T>A (n.2583T>A) c.3814T>A (n.3814T>A) c.2532T>A (n.2532T>A) c.4697T>A (p.Leu1566His) c.4574T>A (p.Leu1525His) c.4520T>A (p.Leu1507His) c.4340T>A (p.Leu1447His) c.4289T>A (p.Leu1430His) c.4967T>A (p.Leu1656His) c.4616T>A (p.Leu1539His) c.4916T>A (p.Leu1639His)
2	g.120990629T>C	CA348180318	GLI2	c.4664T>C (p.Leu1555Pro) c.4715T>C (p.Leu1572Pro) c.3763T>C (n.3763T>C) c.2583T>C (n.2583T>C) c.3814T>C (n.3814T>C) c.2532T>C (n.2532T>C) c.4697T>C (p.Leu1566Pro) c.4574T>C (p.Leu1525Pro) c.4520T>C (p.Leu1507Pro) c.4340T>C (p.Leu1447Pro) c.4289T>C (p.Leu1430Pro) c.4967T>C (p.Leu1656Pro) c.4616T>C (p.Leu1539Pro) c.4916T>C (p.Leu1639Pro)
2	g.120990629T>G	CA348180319	GLI2	c.4664T>G (p.Leu1555Arg) c.4715T>G (p.Leu1572Arg) c.3763T>G (n.3763T>G) c.2583T>G (n.2583T>G) c.3814T>G (n.3814T>G) c.2532T>G (n.2532T>G) c.4697T>G (p.Leu1566Arg) c.4574T>G (p.Leu1525Arg) c.4520T>G (p.Leu1507Arg) c.4340T>G (p.Leu1447Arg) c.4289T>G (p.Leu1430Arg) c.4967T>G (p.Leu1656Arg) c.4616T>G (p.Leu1539Arg) c.4916T>G (p.Leu1639Arg)
2	g.120990630C>A	CA428559492	GLI2	c.4665C>A (p.Leu1555=) c.4716C>A (p.Leu1572=) c.3764C>A (n.3764C>A) c.2584C>A (n.2584C>A) c.3815C>A (n.3815C>A) c.2533C>A (n.2533C>A) c.4698C>A (p.Leu1566=) c.4575C>A (p.Leu1525=) c.4521C>A (p.Leu1507=) c.4341C>A (p.Leu1447=) c.4290C>A (p.Leu1430=) c.4968C>A (p.Leu1656=) c.4617C>A (p.Leu1539=) c.4917C>A (p.Leu1639=)
2	g.120990630C=	CA1283796207	GLI2	c.4665C= (p.Leu1555=) c.4716C= (p.Leu1572=) c.3764C= (n.3764C=) c.2584C= (n.2584C=) c.3815C= (n.3815C=) c.2533C= (n.2533C=) c.4698C= (p.Leu1566=) c.4575C= (p.Leu1525=) c.4521C= (p.Leu1507=) c.4341C= (p.Leu1447=) c.4290C= (p.Leu1430=) c.4968C= (p.Leu1656=) c.4617C= (p.Leu1539=) c.4917C= (p.Leu1639=)
2	g.120990630C>G	CA428559493	GLI2	c.4665C>G (p.Leu1555=) c.4716C>G (p.Leu1572=) c.3764C>G (n.3764C>G) c.2584C>G (n.2584C>G) c.3815C>G (n.3815C>G) c.2533C>G (n.2533C>G) c.4698C>G (p.Leu1566=) c.4575C>G (p.Leu1525=) c.4521C>G (p.Leu1507=) c.4341C>G (p.Leu1447=) c.4290C>G (p.Leu1430=) c.4968C>G (p.Leu1656=) c.4617C>G (p.Leu1539=) c.4917C>G (p.Leu1639=)
2	g.120990630C>T	CA1852684	GLI2	c.4665C>T (p.Leu1555=) c.4716C>T (p.Leu1572=) c.3764C>T (n.3764C>T) c.2584C>T (n.2584C>T) c.3815C>T (n.3815C>T) c.2533C>T (n.2533C>T) c.4698C>T (p.Leu1566=) c.4575C>T (p.Leu1525=) c.4521C>T (p.Leu1507=) c.4341C>T (p.Leu1447=) c.4290C>T (p.Leu1430=) c.4968C>T (p.Leu1656=) c.4617C>T (p.Leu1539=) c.4917C>T (p.Leu1639=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.120990631A=	CA1283796208	GLI2	c.4666A= (p.Thr1556=) c.4717A= (p.Thr1573=) c.3765A= (n.3765A=) c.2585A= (n.2585A=) c.3816A= (n.3816A=) c.2534A= (n.2534A=) c.4699A= (p.Thr1567=) c.4576A= (p.Thr1526=) c.4522A= (p.Thr1508=) c.4342A= (p.Thr1448=) c.4291A= (p.Thr1431=) c.4969A= (p.Thr1657=) c.4618A= (p.Thr1540=) c.4918A= (p.Thr1640=)
2	g.120990631A>C	CA348180320	GLI2	c.4666A>C (p.Thr1556Pro) c.4717A>C (p.Thr1573Pro) c.3765A>C (n.3765A>C) c.2585A>C (n.2585A>C) c.3816A>C (n.3816A>C) c.2534A>C (n.2534A>C) c.4699A>C (p.Thr1567Pro) c.4576A>C (p.Thr1526Pro) c.4522A>C (p.Thr1508Pro) c.4342A>C (p.Thr1448Pro) c.4291A>C (p.Thr1431Pro) c.4969A>C (p.Thr1657Pro) c.4618A>C (p.Thr1540Pro) c.4918A>C (p.Thr1640Pro)	dbSNP gnomAD v2 gnomAD v4
2	g.120990631A>G	CA348180321	GLI2	c.4666A>G (p.Thr1556Ala) c.4717A>G (p.Thr1573Ala) c.3765A>G (n.3765A>G) c.2585A>G (n.2585A>G) c.3816A>G (n.3816A>G) c.2534A>G (n.2534A>G) c.4699A>G (p.Thr1567Ala) c.4576A>G (p.Thr1526Ala) c.4522A>G (p.Thr1508Ala) c.4342A>G (p.Thr1448Ala) c.4291A>G (p.Thr1431Ala) c.4969A>G (p.Thr1657Ala) c.4618A>G (p.Thr1540Ala) c.4918A>G (p.Thr1640Ala)
2	g.120990631A>T	CA348180322	GLI2	c.4666A>T (p.Thr1556Ser) c.4717A>T (p.Thr1573Ser) c.3765A>T (n.3765A>T) c.2585A>T (n.2585A>T) c.3816A>T (n.3816A>T) c.2534A>T (n.2534A>T) c.4699A>T (p.Thr1567Ser) c.4576A>T (p.Thr1526Ser) c.4522A>T (p.Thr1508Ser) c.4342A>T (p.Thr1448Ser) c.4291A>T (p.Thr1431Ser) c.4969A>T (p.Thr1657Ser) c.4618A>T (p.Thr1540Ser) c.4918A>T (p.Thr1640Ser)
2	g.120990632C>A	CA348180326	GLI2	c.4667C>A (p.Thr1556Asn) c.4718C>A (p.Thr1573Asn) c.3766C>A (n.3766C>A) c.2586C>A (n.2586C>A) c.3817C>A (n.3817C>A) c.2535C>A (n.2535C>A) c.4700C>A (p.Thr1567Asn) c.4577C>A (p.Thr1526Asn) c.4523C>A (p.Thr1508Asn) c.4343C>A (p.Thr1448Asn) c.4292C>A (p.Thr1431Asn) c.4970C>A (p.Thr1657Asn) c.4619C>A (p.Thr1540Asn) c.4919C>A (p.Thr1640Asn)	dbSNP gnomAD v2 gnomAD v4
2	g.120990632C=	CA1283796209	GLI2	c.4667C= (p.Thr1556=) c.4718C= (p.Thr1573=) c.3766C= (n.3766C=) c.2586C= (n.2586C=) c.3817C= (n.3817C=) c.2535C= (n.2535C=) c.4700C= (p.Thr1567=) c.4577C= (p.Thr1526=) c.4523C= (p.Thr1508=) c.4343C= (p.Thr1448=) c.4292C= (p.Thr1431=) c.4970C= (p.Thr1657=) c.4619C= (p.Thr1540=) c.4919C= (p.Thr1640=)
2	g.120990632C>G	CA348180323	GLI2	c.4667C>G (p.Thr1556Ser) c.4718C>G (p.Thr1573Ser) c.3766C>G (n.3766C>G) c.2586C>G (n.2586C>G) c.3817C>G (n.3817C>G) c.2535C>G (n.2535C>G) c.4700C>G (p.Thr1567Ser) c.4577C>G (p.Thr1526Ser) c.4523C>G (p.Thr1508Ser) c.4343C>G (p.Thr1448Ser) c.4292C>G (p.Thr1431Ser) c.4970C>G (p.Thr1657Ser) c.4619C>G (p.Thr1540Ser) c.4919C>G (p.Thr1640Ser)
2	g.120990632C>T	CA348180324	GLI2	c.4667C>T (p.Thr1556Ile) c.4718C>T (p.Thr1573Ile) c.3766C>T (n.3766C>T) c.2586C>T (n.2586C>T) c.3817C>T (n.3817C>T) c.2535C>T (n.2535C>T) c.4700C>T (p.Thr1567Ile) c.4577C>T (p.Thr1526Ile) c.4523C>T (p.Thr1508Ile) c.4343C>T (p.Thr1448Ile) c.4292C>T (p.Thr1431Ile) c.4970C>T (p.Thr1657Ile) c.4619C>T (p.Thr1540Ile) c.4919C>T (p.Thr1640Ile)
2	g.120990633C>A	CA1852685	GLI2	c.4668C>A (p.Thr1556=) c.4719C>A (p.Thr1573=) c.3767C>A (n.3767C>A) c.2587C>A (n.2587C>A) c.3818C>A (n.3818C>A) c.2536C>A (n.2536C>A) c.4701C>A (p.Thr1567=) c.4578C>A (p.Thr1526=) c.4524C>A (p.Thr1508=) c.4344C>A (p.Thr1448=) c.4293C>A (p.Thr1431=) c.4971C>A (p.Thr1657=) c.4620C>A (p.Thr1540=) c.4920C>A (p.Thr1640=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.120990633C=	CA1283796210	GLI2	c.4668C= (p.Thr1556=) c.4719C= (p.Thr1573=) c.3767C= (n.3767C=) c.2587C= (n.2587C=) c.3818C= (n.3818C=) c.2536C= (n.2536C=) c.4701C= (p.Thr1567=) c.4578C= (p.Thr1526=) c.4524C= (p.Thr1508=) c.4344C= (p.Thr1448=) c.4293C= (p.Thr1431=) c.4971C= (p.Thr1657=) c.4620C= (p.Thr1540=) c.4920C= (p.Thr1640=)
2	g.120990633C>G	CA428559494	GLI2	c.4668C>G (p.Thr1556=) c.4719C>G (p.Thr1573=) c.3767C>G (n.3767C>G) c.2587C>G (n.2587C>G) c.3818C>G (n.3818C>G) c.2536C>G (n.2536C>G) c.4701C>G (p.Thr1567=) c.4578C>G (p.Thr1526=) c.4524C>G (p.Thr1508=) c.4344C>G (p.Thr1448=) c.4293C>G (p.Thr1431=) c.4971C>G (p.Thr1657=) c.4620C>G (p.Thr1540=) c.4920C>G (p.Thr1640=)
2	g.120990633C>T	CA428559495	GLI2	c.4668C>T (p.Thr1556=) c.4719C>T (p.Thr1573=) c.3767C>T (n.3767C>T) c.2587C>T (n.2587C>T) c.3818C>T (n.3818C>T) c.2536C>T (n.2536C>T) c.4701C>T (p.Thr1567=) c.4578C>T (p.Thr1526=) c.4524C>T (p.Thr1508=) c.4344C>T (p.Thr1448=) c.4293C>T (p.Thr1431=) c.4971C>T (p.Thr1657=) c.4620C>T (p.Thr1540=) c.4920C>T (p.Thr1640=)
2	g.120990634A>C	CA348180333	GLI2	c.4669A>C (p.Ser1557Arg) c.4720A>C (p.Ser1574Arg) c.3768A>C (n.3768A>C) c.2588A>C (n.2588A>C) c.3819A>C (n.3819A>C) c.2537A>C (n.2537A>C) c.4702A>C (p.Ser1568Arg) c.4579A>C (p.Ser1527Arg) c.4525A>C (p.Ser1509Arg) c.4345A>C (p.Ser1449Arg) c.4294A>C (p.Ser1432Arg) c.4972A>C (p.Ser1658Arg) c.4621A>C (p.Ser1541Arg) c.4921A>C (p.Ser1641Arg)
2	g.120990634A>G	CA348180336	GLI2	c.4669A>G (p.Ser1557Gly) c.4720A>G (p.Ser1574Gly) c.3768A>G (n.3768A>G) c.2588A>G (n.2588A>G) c.3819A>G (n.3819A>G) c.2537A>G (n.2537A>G) c.4702A>G (p.Ser1568Gly) c.4579A>G (p.Ser1527Gly) c.4525A>G (p.Ser1509Gly) c.4345A>G (p.Ser1449Gly) c.4294A>G (p.Ser1432Gly) c.4972A>G (p.Ser1658Gly) c.4621A>G (p.Ser1541Gly) c.4921A>G (p.Ser1641Gly)	gnomAD v4
2	g.120990634A>T	CA348180338	GLI2	c.4669A>T (p.Ser1557Cys) c.4720A>T (p.Ser1574Cys) c.3768A>T (n.3768A>T) c.2588A>T (n.2588A>T) c.3819A>T (n.3819A>T) c.2537A>T (n.2537A>T) c.4702A>T (p.Ser1568Cys) c.4579A>T (p.Ser1527Cys) c.4525A>T (p.Ser1509Cys) c.4345A>T (p.Ser1449Cys) c.4294A>T (p.Ser1432Cys) c.4972A>T (p.Ser1658Cys) c.4621A>T (p.Ser1541Cys) c.4921A>T (p.Ser1641Cys)
2	g.120990635G>A	CA348180341	GLI2	c.4670G>A (p.Ser1557Asn) c.4721G>A (p.Ser1574Asn) c.3769G>A (n.3769G>A) c.2589G>A (n.2589G>A) c.3820G>A (n.3820G>A) c.2538G>A (n.2538G>A) c.4703G>A (p.Ser1568Asn) c.4580G>A (p.Ser1527Asn) c.4526G>A (p.Ser1509Asn) c.4346G>A (p.Ser1449Asn) c.4295G>A (p.Ser1432Asn) c.4973G>A (p.Ser1658Asn) c.4622G>A (p.Ser1541Asn) c.4922G>A (p.Ser1641Asn)
2	g.120990635G>C	CA348180342	GLI2	c.4670G>C (p.Ser1557Thr) c.4721G>C (p.Ser1574Thr) c.3769G>C (n.3769G>C) c.2589G>C (n.2589G>C) c.3820G>C (n.3820G>C) c.2538G>C (n.2538G>C) c.4703G>C (p.Ser1568Thr) c.4580G>C (p.Ser1527Thr) c.4526G>C (p.Ser1509Thr) c.4346G>C (p.Ser1449Thr) c.4295G>C (p.Ser1432Thr) c.4973G>C (p.Ser1658Thr) c.4622G>C (p.Ser1541Thr) c.4922G>C (p.Ser1641Thr)
2	g.120990635G>T	CA348180343	GLI2	c.4670G>T (p.Ser1557Ile) c.4721G>T (p.Ser1574Ile) c.3769G>T (n.3769G>T) c.2589G>T (n.2589G>T) c.3820G>T (n.3820G>T) c.2538G>T (n.2538G>T) c.4703G>T (p.Ser1568Ile) c.4580G>T (p.Ser1527Ile) c.4526G>T (p.Ser1509Ile) c.4346G>T (p.Ser1449Ile) c.4295G>T (p.Ser1432Ile) c.4973G>T (p.Ser1658Ile) c.4622G>T (p.Ser1541Ile) c.4922G>T (p.Ser1641Ile)
2	g.120990636C>A	CA348180346	GLI2	c.4671C>A (p.Ser1557Arg) c.4722C>A (p.Ser1574Arg) c.3770C>A (n.3770C>A) c.2590C>A (n.2590C>A) c.3821C>A (n.3821C>A) c.2539C>A (n.2539C>A) c.4704C>A (p.Ser1568Arg) c.4581C>A (p.Ser1527Arg) c.4527C>A (p.Ser1509Arg) c.4347C>A (p.Ser1449Arg) c.4296C>A (p.Ser1432Arg) c.4974C>A (p.Ser1658Arg) c.4623C>A (p.Ser1541Arg) c.4923C>A (p.Ser1641Arg)
2	g.120990636C=	CA1283796211	GLI2	c.4671C= (p.Ser1557=) c.4722C= (p.Ser1574=) c.3770C= (n.3770C=) c.2590C= (n.2590C=) c.3821C= (n.3821C=) c.2539C= (n.2539C=) c.4704C= (p.Ser1568=) c.4581C= (p.Ser1527=) c.4527C= (p.Ser1509=) c.4347C= (p.Ser1449=) c.4296C= (p.Ser1432=) c.4974C= (p.Ser1658=) c.4623C= (p.Ser1541=) c.4923C= (p.Ser1641=)
2	g.120990636C>G	CA348180348	GLI2	c.4671C>G (p.Ser1557Arg) c.4722C>G (p.Ser1574Arg) c.3770C>G (n.3770C>G) c.2590C>G (n.2590C>G) c.3821C>G (n.3821C>G) c.2539C>G (n.2539C>G) c.4704C>G (p.Ser1568Arg) c.4581C>G (p.Ser1527Arg) c.4527C>G (p.Ser1509Arg) c.4347C>G (p.Ser1449Arg) c.4296C>G (p.Ser1432Arg) c.4974C>G (p.Ser1658Arg) c.4623C>G (p.Ser1541Arg) c.4923C>G (p.Ser1641Arg)
2	g.120990636C>T	CA428559496	GLI2	c.4671C>T (p.Ser1557=) c.4722C>T (p.Ser1574=) c.3770C>T (n.3770C>T) c.2590C>T (n.2590C>T) c.3821C>T (n.3821C>T) c.2539C>T (n.2539C>T) c.4704C>T (p.Ser1568=) c.4581C>T (p.Ser1527=) c.4527C>T (p.Ser1509=) c.4347C>T (p.Ser1449=) c.4296C>T (p.Ser1432=) c.4974C>T (p.Ser1658=) c.4623C>T (p.Ser1541=) c.4923C>T (p.Ser1641=)	dbSNP gnomAD v2
2	g.120990637C>A	CA348180350	GLI2	c.4672C>A (p.Leu1558Ile) c.4723C>A (p.Leu1575Ile) c.3771C>A (n.3771C>A) c.2591C>A (n.2591C>A) c.3822C>A (n.3822C>A) c.2540C>A (n.2540C>A) c.4705C>A (p.Leu1569Ile) c.4582C>A (p.Leu1528Ile) c.4528C>A (p.Leu1510Ile) c.4348C>A (p.Leu1450Ile) c.4297C>A (p.Leu1433Ile) c.4975C>A (p.Leu1659Ile) c.4624C>A (p.Leu1542Ile) c.4924C>A (p.Leu1642Ile)
2	g.120990637C>G	CA348180352	GLI2	c.4672C>G (p.Leu1558Val) c.4723C>G (p.Leu1575Val) c.3771C>G (n.3771C>G) c.2591C>G (n.2591C>G) c.3822C>G (n.3822C>G) c.2540C>G (n.2540C>G) c.4705C>G (p.Leu1569Val) c.4582C>G (p.Leu1528Val) c.4528C>G (p.Leu1510Val) c.4348C>G (p.Leu1450Val) c.4297C>G (p.Leu1433Val) c.4975C>G (p.Leu1659Val) c.4624C>G (p.Leu1542Val) c.4924C>G (p.Leu1642Val)
2	g.120990637C>T	CA348180353	GLI2	c.4672C>T (p.Leu1558Phe) c.4723C>T (p.Leu1575Phe) c.3771C>T (n.3771C>T) c.2591C>T (n.2591C>T) c.3822C>T (n.3822C>T) c.2540C>T (n.2540C>T) c.4705C>T (p.Leu1569Phe) c.4582C>T (p.Leu1528Phe) c.4528C>T (p.Leu1510Phe) c.4348C>T (p.Leu1450Phe) c.4297C>T (p.Leu1433Phe) c.4975C>T (p.Leu1659Phe) c.4624C>T (p.Leu1542Phe) c.4924C>T (p.Leu1642Phe)
2	g.120990638T>A	CA348180357	GLI2	c.4673T>A (p.Leu1558His) c.4724T>A (p.Leu1575His) c.3772T>A (n.3772T>A) c.2592T>A (n.2592T>A) c.3823T>A (n.3823T>A) c.2541T>A (n.2541T>A) c.4706T>A (p.Leu1569His) c.4583T>A (p.Leu1528His) c.4529T>A (p.Leu1510His) c.4349T>A (p.Leu1450His) c.4298T>A (p.Leu1433His) c.4976T>A (p.Leu1659His) c.4625T>A (p.Leu1542His) c.4925T>A (p.Leu1642His)
2	g.120990638T>C	CA348180358	GLI2	c.4673T>C (p.Leu1558Pro) c.4724T>C (p.Leu1575Pro) c.3772T>C (n.3772T>C) c.2592T>C (n.2592T>C) c.3823T>C (n.3823T>C) c.2541T>C (n.2541T>C) c.4706T>C (p.Leu1569Pro) c.4583T>C (p.Leu1528Pro) c.4529T>C (p.Leu1510Pro) c.4349T>C (p.Leu1450Pro) c.4298T>C (p.Leu1433Pro) c.4976T>C (p.Leu1659Pro) c.4625T>C (p.Leu1542Pro) c.4925T>C (p.Leu1642Pro)
2	g.120990638T>G	CA348180356	GLI2	c.4673T>G (p.Leu1558Arg) c.4724T>G (p.Leu1575Arg) c.3772T>G (n.3772T>G) c.2592T>G (n.2592T>G) c.3823T>G (n.3823T>G) c.2541T>G (n.2541T>G) c.4706T>G (p.Leu1569Arg) c.4583T>G (p.Leu1528Arg) c.4529T>G (p.Leu1510Arg) c.4349T>G (p.Leu1450Arg) c.4298T>G (p.Leu1433Arg) c.4976T>G (p.Leu1659Arg) c.4625T>G (p.Leu1542Arg) c.4925T>G (p.Leu1642Arg)
2	g.120990639C>A	CA428559497	GLI2	c.4674C>A (p.Leu1558=) c.4725C>A (p.Leu1575=) c.3773C>A (n.3773C>A) c.2593C>A (n.2593C>A) c.3824C>A (n.3824C>A) c.2542C>A (n.2542C>A) c.4707C>A (p.Leu1569=) c.4584C>A (p.Leu1528=) c.4530C>A (p.Leu1510=) c.4350C>A (p.Leu1450=) c.4299C>A (p.Leu1433=) c.4977C>A (p.Leu1659=) c.4626C>A (p.Leu1542=) c.4926C>A (p.Leu1642=)
2	g.120990639C=	CA1283796212	GLI2	c.4674C= (p.Leu1558=) c.4725C= (p.Leu1575=) c.3773C= (n.3773C=) c.2593C= (n.2593C=) c.3824C= (n.3824C=) c.2542C= (n.2542C=) c.4707C= (p.Leu1569=) c.4584C= (p.Leu1528=) c.4530C= (p.Leu1510=) c.4350C= (p.Leu1450=) c.4299C= (p.Leu1433=) c.4977C= (p.Leu1659=) c.4626C= (p.Leu1542=) c.4926C= (p.Leu1642=)
2	g.120990639C>G	CA428559498	GLI2	c.4674C>G (p.Leu1558=) c.4725C>G (p.Leu1575=) c.3773C>G (n.3773C>G) c.2593C>G (n.2593C>G) c.3824C>G (n.3824C>G) c.2542C>G (n.2542C>G) c.4707C>G (p.Leu1569=) c.4584C>G (p.Leu1528=) c.4530C>G (p.Leu1510=) c.4350C>G (p.Leu1450=) c.4299C>G (p.Leu1433=) c.4977C>G (p.Leu1659=) c.4626C>G (p.Leu1542=) c.4926C>G (p.Leu1642=)	gnomAD v4
2	g.120990639C>T	CA1852686	GLI2	c.4674C>T (p.Leu1558=) c.4725C>T (p.Leu1575=) c.3773C>T (n.3773C>T) c.2593C>T (n.2593C>T) c.3824C>T (n.3824C>T) c.2542C>T (n.2542C>T) c.4707C>T (p.Leu1569=) c.4584C>T (p.Leu1528=) c.4530C>T (p.Leu1510=) c.4350C>T (p.Leu1450=) c.4299C>T (p.Leu1433=) c.4977C>T (p.Leu1659=) c.4626C>T (p.Leu1542=) c.4926C>T (p.Leu1642=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.120990640G>A	CA54386628	GLI2	c.4675G>A (p.Ala1559Thr) c.4726G>A (p.Ala1576Thr) c.3774G>A (n.3774G>A) c.2594G>A (n.2594G>A) c.3825G>A (n.3825G>A) c.2543G>A (n.2543G>A) c.4708G>A (p.Ala1570Thr) c.4585G>A (p.Ala1529Thr) c.4531G>A (p.Ala1511Thr) c.4351G>A (p.Ala1451Thr) c.4300G>A (p.Ala1434Thr) c.4978G>A (p.Ala1660Thr) c.4627G>A (p.Ala1543Thr) c.4927G>A (p.Ala1643Thr)	dbSNP gnomAD v2 gnomAD v4
2	g.120990640G>C	CA1852687	GLI2	c.4675G>C (p.Ala1559Pro) c.4726G>C (p.Ala1576Pro) c.3774G>C (n.3774G>C) c.2594G>C (n.2594G>C) c.3825G>C (n.3825G>C) c.2543G>C (n.2543G>C) c.4708G>C (p.Ala1570Pro) c.4585G>C (p.Ala1529Pro) c.4531G>C (p.Ala1511Pro) c.4351G>C (p.Ala1451Pro) c.4300G>C (p.Ala1434Pro) c.4978G>C (p.Ala1660Pro) c.4627G>C (p.Ala1543Pro) c.4927G>C (p.Ala1643Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.120990640G=	CA1283796213	GLI2	c.4675G= (p.Ala1559=) c.4726G= (p.Ala1576=) c.3774G= (n.3774G=) c.2594G= (n.2594G=) c.3825G= (n.3825G=) c.2543G= (n.2543G=) c.4708G= (p.Ala1570=) c.4585G= (p.Ala1529=) c.4531G= (p.Ala1511=) c.4351G= (p.Ala1451=) c.4300G= (p.Ala1434=) c.4978G= (p.Ala1660=) c.4627G= (p.Ala1543=) c.4927G= (p.Ala1643=)
2	g.120990640G>T	CA348180366	GLI2	c.4675G>T (p.Ala1559Ser) c.4726G>T (p.Ala1576Ser) c.3774G>T (n.3774G>T) c.2594G>T (n.2594G>T) c.3825G>T (n.3825G>T) c.2543G>T (n.2543G>T) c.4708G>T (p.Ala1570Ser) c.4585G>T (p.Ala1529Ser) c.4531G>T (p.Ala1511Ser) c.4351G>T (p.Ala1451Ser) c.4300G>T (p.Ala1434Ser) c.4978G>T (p.Ala1660Ser) c.4627G>T (p.Ala1543Ser) c.4927G>T (p.Ala1643Ser)	gnomAD v4
2	g.120990641C>A	CA348180368	GLI2	c.4676C>A (p.Ala1559Asp) c.4727C>A (p.Ala1576Asp) c.3775C>A (n.3775C>A) c.2595C>A (n.2595C>A) c.3826C>A (n.3826C>A) c.2544C>A (n.2544C>A) c.4709C>A (p.Ala1570Asp) c.4586C>A (p.Ala1529Asp) c.4532C>A (p.Ala1511Asp) c.4352C>A (p.Ala1451Asp) c.4301C>A (p.Ala1434Asp) c.4979C>A (p.Ala1660Asp) c.4628C>A (p.Ala1543Asp) c.4928C>A (p.Ala1643Asp)
2	g.120990641C>G	CA348180372	GLI2	c.4676C>G (p.Ala1559Gly) c.4727C>G (p.Ala1576Gly) c.3775C>G (n.3775C>G) c.2595C>G (n.2595C>G) c.3826C>G (n.3826C>G) c.2544C>G (n.2544C>G) c.4709C>G (p.Ala1570Gly) c.4586C>G (p.Ala1529Gly) c.4532C>G (p.Ala1511Gly) c.4352C>G (p.Ala1451Gly) c.4301C>G (p.Ala1434Gly) c.4979C>G (p.Ala1660Gly) c.4628C>G (p.Ala1543Gly) c.4928C>G (p.Ala1643Gly)
2	g.120990641C>T	CA348180369	GLI2	c.4676C>T (p.Ala1559Val) c.4727C>T (p.Ala1576Val) c.3775C>T (n.3775C>T) c.2595C>T (n.2595C>T) c.3826C>T (n.3826C>T) c.2544C>T (n.2544C>T) c.4709C>T (p.Ala1570Val) c.4586C>T (p.Ala1529Val) c.4532C>T (p.Ala1511Val) c.4352C>T (p.Ala1451Val) c.4301C>T (p.Ala1434Val) c.4979C>T (p.Ala1660Val) c.4628C>T (p.Ala1543Val) c.4928C>T (p.Ala1643Val)
2	g.120990642C>A	CA428559499	GLI2	c.4677C>A (p.Ala1559=) c.4728C>A (p.Ala1576=) c.3776C>A (n.3776C>A) c.2596C>A (n.2596C>A) c.3827C>A (n.3827C>A) c.2545C>A (n.2545C>A) c.4710C>A (p.Ala1570=) c.4587C>A (p.Ala1529=) c.4533C>A (p.Ala1511=) c.4353C>A (p.Ala1451=) c.4302C>A (p.Ala1434=) c.4980C>A (p.Ala1660=) c.4629C>A (p.Ala1543=) c.4929C>A (p.Ala1643=)	dbSNP
2	g.120990642C=	CA1283796214	GLI2	c.4677C= (p.Ala1559=) c.4728C= (p.Ala1576=) c.3776C= (n.3776C=) c.2596C= (n.2596C=) c.3827C= (n.3827C=) c.2545C= (n.2545C=) c.4710C= (p.Ala1570=) c.4587C= (p.Ala1529=) c.4533C= (p.Ala1511=) c.4353C= (p.Ala1451=) c.4302C= (p.Ala1434=) c.4980C= (p.Ala1660=) c.4629C= (p.Ala1543=) c.4929C= (p.Ala1643=)
2	g.120990642C>G	CA428559500	GLI2	c.4677C>G (p.Ala1559=) c.4728C>G (p.Ala1576=) c.3776C>G (n.3776C>G) c.2596C>G (n.2596C>G) c.3827C>G (n.3827C>G) c.2545C>G (n.2545C>G) c.4710C>G (p.Ala1570=) c.4587C>G (p.Ala1529=) c.4533C>G (p.Ala1511=) c.4353C>G (p.Ala1451=) c.4302C>G (p.Ala1434=) c.4980C>G (p.Ala1660=) c.4629C>G (p.Ala1543=) c.4929C>G (p.Ala1643=)	dbSNP gnomAD v2 gnomAD v4
2	g.120990642C>T	CA1852688	GLI2	c.4677C>T (p.Ala1559=) c.4728C>T (p.Ala1576=) c.3776C>T (n.3776C>T) c.2596C>T (n.2596C>T) c.3827C>T (n.3827C>T) c.2545C>T (n.2545C>T) c.4710C>T (p.Ala1570=) c.4587C>T (p.Ala1529=) c.4533C>T (p.Ala1511=) c.4353C>T (p.Ala1451=) c.4302C>T (p.Ala1434=) c.4980C>T (p.Ala1660=) c.4629C>T (p.Ala1543=) c.4929C>T (p.Ala1643=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.120990643G>A	CA1852689	GLI2	c.4678G>A (p.Glu1560Lys) c.4729G>A (p.Glu1577Lys) c.3777G>A (n.3777G>A) c.2597G>A (n.2597G>A) c.3828G>A (n.3828G>A) c.2546G>A (n.2546G>A) c.4711G>A (p.Glu1571Lys) c.4588G>A (p.Glu1530Lys) c.4534G>A (p.Glu1512Lys) c.4354G>A (p.Glu1452Lys) c.4303G>A (p.Glu1435Lys) c.4981G>A (p.Glu1661Lys) c.4630G>A (p.Glu1544Lys) c.4930G>A (p.Glu1644Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.120990643G>C	CA348180375	GLI2	c.4678G>C (p.Glu1560Gln) c.4729G>C (p.Glu1577Gln) c.3777G>C (n.3777G>C) c.2597G>C (n.2597G>C) c.3828G>C (n.3828G>C) c.2546G>C (n.2546G>C) c.4711G>C (p.Glu1571Gln) c.4588G>C (p.Glu1530Gln) c.4534G>C (p.Glu1512Gln) c.4354G>C (p.Glu1452Gln) c.4303G>C (p.Glu1435Gln) c.4981G>C (p.Glu1661Gln) c.4630G>C (p.Glu1544Gln) c.4930G>C (p.Glu1644Gln)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.120990643G=	CA1283796215	GLI2	c.4678G= (p.Glu1560=) c.4729G= (p.Glu1577=) c.3777G= (n.3777G=) c.2597G= (n.2597G=) c.3828G= (n.3828G=) c.2546G= (n.2546G=) c.4711G= (p.Glu1571=) c.4588G= (p.Glu1530=) c.4534G= (p.Glu1512=) c.4354G= (p.Glu1452=) c.4303G= (p.Glu1435=) c.4981G= (p.Glu1661=) c.4630G= (p.Glu1544=) c.4930G= (p.Glu1644=)
2	g.120990643G>T	CA348180381	GLI2	c.4678G>T (p.Glu1560Ter) c.4729G>T (p.Glu1577Ter) c.3777G>T (n.3777G>T) c.2597G>T (n.2597G>T) c.3828G>T (n.3828G>T) c.2546G>T (n.2546G>T) c.4711G>T (p.Glu1571Ter) c.4588G>T (p.Glu1530Ter) c.4534G>T (p.Glu1512Ter) c.4354G>T (p.Glu1452Ter) c.4303G>T (p.Glu1435Ter) c.4981G>T (p.Glu1661Ter) c.4630G>T (p.Glu1544Ter) c.4930G>T (p.Glu1644Ter)
2	g.120990644A=	CA1283796216	GLI2	c.4679A= (p.Glu1560=) c.4730A= (p.Glu1577=) c.3778A= (n.3778A=) c.2598A= (n.2598A=) c.3829A= (n.3829A=) c.2547A= (n.2547A=) c.4712A= (p.Glu1571=) c.4589A= (p.Glu1530=) c.4535A= (p.Glu1512=) c.4355A= (p.Glu1452=) c.4304A= (p.Glu1435=) c.4982A= (p.Glu1661=) c.4631A= (p.Glu1544=) c.4931A= (p.Glu1644=)
2	g.120990644A>C	CA348180384	GLI2	c.4679A>C (p.Glu1560Ala) c.4730A>C (p.Glu1577Ala) c.3778A>C (n.3778A>C) c.2598A>C (n.2598A>C) c.3829A>C (n.3829A>C) c.2547A>C (n.2547A>C) c.4712A>C (p.Glu1571Ala) c.4589A>C (p.Glu1530Ala) c.4535A>C (p.Glu1512Ala) c.4355A>C (p.Glu1452Ala) c.4304A>C (p.Glu1435Ala) c.4982A>C (p.Glu1661Ala) c.4631A>C (p.Glu1544Ala) c.4931A>C (p.Glu1644Ala)
2	g.120990644A>G	CA348180385	GLI2	c.4679A>G (p.Glu1560Gly) c.4730A>G (p.Glu1577Gly) c.3778A>G (n.3778A>G) c.2598A>G (n.2598A>G) c.3829A>G (n.3829A>G) c.2547A>G (n.2547A>G) c.4712A>G (p.Glu1571Gly) c.4589A>G (p.Glu1530Gly) c.4535A>G (p.Glu1512Gly) c.4355A>G (p.Glu1452Gly) c.4304A>G (p.Glu1435Gly) c.4982A>G (p.Glu1661Gly) c.4631A>G (p.Glu1544Gly) c.4931A>G (p.Glu1644Gly)
2	g.120990644A>T	CA348180386	GLI2	c.4679A>T (p.Glu1560Val) c.4730A>T (p.Glu1577Val) c.3778A>T (n.3778A>T) c.2598A>T (n.2598A>T) c.3829A>T (n.3829A>T) c.2547A>T (n.2547A>T) c.4712A>T (p.Glu1571Val) c.4589A>T (p.Glu1530Val) c.4535A>T (p.Glu1512Val) c.4355A>T (p.Glu1452Val) c.4304A>T (p.Glu1435Val) c.4982A>T (p.Glu1661Val) c.4631A>T (p.Glu1544Val) c.4931A>T (p.Glu1644Val)	COSMIC
2	g.120990645G>A	CA428559501	GLI2	c.4680G>A (p.Glu1560=) c.4731G>A (p.Glu1577=) c.3779G>A (n.3779G>A) c.2599G>A (n.2599G>A) c.3830G>A (n.3830G>A) c.2548G>A (n.2548G>A) c.4713G>A (p.Glu1571=) c.4590G>A (p.Glu1530=) c.4536G>A (p.Glu1512=) c.4356G>A (p.Glu1452=) c.4305G>A (p.Glu1435=) c.4983G>A (p.Glu1661=) c.4632G>A (p.Glu1544=) c.4932G>A (p.Glu1644=)
2	g.120990645G>C	CA348180388	GLI2	c.4680G>C (p.Glu1560Asp) c.4731G>C (p.Glu1577Asp) c.3779G>C (n.3779G>C) c.2599G>C (n.2599G>C) c.3830G>C (n.3830G>C) c.2548G>C (n.2548G>C) c.4713G>C (p.Glu1571Asp) c.4590G>C (p.Glu1530Asp) c.4536G>C (p.Glu1512Asp) c.4356G>C (p.Glu1452Asp) c.4305G>C (p.Glu1435Asp) c.4983G>C (p.Glu1661Asp) c.4632G>C (p.Glu1544Asp) c.4932G>C (p.Glu1644Asp)
2	g.120990645G>T	CA348180389	GLI2	c.4680G>T (p.Glu1560Asp) c.4731G>T (p.Glu1577Asp) c.3779G>T (n.3779G>T) c.2599G>T (n.2599G>T) c.3830G>T (n.3830G>T) c.2548G>T (n.2548G>T) c.4713G>T (p.Glu1571Asp) c.4590G>T (p.Glu1530Asp) c.4536G>T (p.Glu1512Asp) c.4356G>T (p.Glu1452Asp) c.4305G>T (p.Glu1435Asp) c.4983G>T (p.Glu1661Asp) c.4632G>T (p.Glu1544Asp) c.4932G>T (p.Glu1644Asp)
2	g.120990646dup	CA535600731	GLI2	c.4681dup (p.Glu1561GlyfsTer?) c.4732dup (p.Glu1578GlyfsTer?) c.3780dup (n.3780dup) c.2600dup (n.2600dup) c.3831dup (n.3831dup) c.2549dup (n.2549dup) c.4714dup (p.Glu1572GlyfsTer?) c.4591dup (p.Glu1531GlyfsTer?) c.4537dup (p.Glu1513GlyfsTer?) c.4357dup (p.Glu1453GlyfsTer?) c.4306dup (p.Glu1436GlyfsTer?) c.4984dup (p.Glu1662GlyfsTer?) c.4633dup (p.Glu1545GlyfsTer?) c.4933dup (p.Glu1645GlyfsTer?)	dbSNP gnomAD v2 gnomAD v4
2	g.120990646G>A	CA348180395	GLI2	c.4681G>A (p.Glu1561Lys) c.4732G>A (p.Glu1578Lys) c.3780G>A (n.3780G>A) c.2600G>A (n.2600G>A) c.3831G>A (n.3831G>A) c.2549G>A (n.2549G>A) c.4714G>A (p.Glu1572Lys) c.4591G>A (p.Glu1531Lys) c.4537G>A (p.Glu1513Lys) c.4357G>A (p.Glu1453Lys) c.4306G>A (p.Glu1436Lys) c.4984G>A (p.Glu1662Lys) c.4633G>A (p.Glu1545Lys) c.4933G>A (p.Glu1645Lys)
2	g.120990646G>C	CA348180391	GLI2	c.4681G>C (p.Glu1561Gln) c.4732G>C (p.Glu1578Gln) c.3780G>C (n.3780G>C) c.2600G>C (n.2600G>C) c.3831G>C (n.3831G>C) c.2549G>C (n.2549G>C) c.4714G>C (p.Glu1572Gln) c.4591G>C (p.Glu1531Gln) c.4537G>C (p.Glu1513Gln) c.4357G>C (p.Glu1453Gln) c.4306G>C (p.Glu1436Gln) c.4984G>C (p.Glu1662Gln) c.4633G>C (p.Glu1545Gln) c.4933G>C (p.Glu1645Gln)
2	g.120990646G>T	CA348180393	GLI2	c.4681G>T (p.Glu1561Ter) c.4732G>T (p.Glu1578Ter) c.3780G>T (n.3780G>T) c.2600G>T (n.2600G>T) c.3831G>T (n.3831G>T) c.2549G>T (n.2549G>T) c.4714G>T (p.Glu1572Ter) c.4591G>T (p.Glu1531Ter) c.4537G>T (p.Glu1513Ter) c.4357G>T (p.Glu1453Ter) c.4306G>T (p.Glu1436Ter) c.4984G>T (p.Glu1662Ter) c.4633G>T (p.Glu1545Ter) c.4933G>T (p.Glu1645Ter)
2	g.120990647A>C	CA348180398	GLI2	c.4682A>C (p.Glu1561Ala) c.4733A>C (p.Glu1578Ala) c.3781A>C (n.3781A>C) c.2601A>C (n.2601A>C) c.3832A>C (n.3832A>C) c.2550A>C (n.2550A>C) c.4715A>C (p.Glu1572Ala) c.4592A>C (p.Glu1531Ala) c.4538A>C (p.Glu1513Ala) c.4358A>C (p.Glu1453Ala) c.4307A>C (p.Glu1436Ala) c.4985A>C (p.Glu1662Ala) c.4634A>C (p.Glu1545Ala) c.4934A>C (p.Glu1645Ala)
2	g.120990647A>G	CA348180400	GLI2	c.4682A>G (p.Glu1561Gly) c.4733A>G (p.Glu1578Gly) c.3781A>G (n.3781A>G) c.2601A>G (n.2601A>G) c.3832A>G (n.3832A>G) c.2550A>G (n.2550A>G) c.4715A>G (p.Glu1572Gly) c.4592A>G (p.Glu1531Gly) c.4538A>G (p.Glu1513Gly) c.4358A>G (p.Glu1453Gly) c.4307A>G (p.Glu1436Gly) c.4985A>G (p.Glu1662Gly) c.4634A>G (p.Glu1545Gly) c.4934A>G (p.Glu1645Gly)
2	g.120990647A>T	CA348180402	GLI2	c.4682A>T (p.Glu1561Val) c.4733A>T (p.Glu1578Val) c.3781A>T (n.3781A>T) c.2601A>T (n.2601A>T) c.3832A>T (n.3832A>T) c.2550A>T (n.2550A>T) c.4715A>T (p.Glu1572Val) c.4592A>T (p.Glu1531Val) c.4538A>T (p.Glu1513Val) c.4358A>T (p.Glu1453Val) c.4307A>T (p.Glu1436Val) c.4985A>T (p.Glu1662Val) c.4634A>T (p.Glu1545Val) c.4934A>T (p.Glu1645Val)
2	g.120990648G>A	CA428559502	GLI2	c.4683G>A (p.Glu1561=) c.4734G>A (p.Glu1578=) c.3782G>A (n.3782G>A) c.2602G>A (n.2602G>A) c.3833G>A (n.3833G>A) c.2551G>A (n.2551G>A) c.4716G>A (p.Glu1572=) c.4593G>A (p.Glu1531=) c.4539G>A (p.Glu1513=) c.4359G>A (p.Glu1453=) c.4308G>A (p.Glu1436=) c.4986G>A (p.Glu1662=) c.4635G>A (p.Glu1545=) c.4935G>A (p.Glu1645=)	gnomAD v4
2	g.120990648G>C	CA348180403	GLI2	c.4683G>C (p.Glu1561Asp) c.4734G>C (p.Glu1578Asp) c.3782G>C (n.3782G>C) c.2602G>C (n.2602G>C) c.3833G>C (n.3833G>C) c.2551G>C (n.2551G>C) c.4716G>C (p.Glu1572Asp) c.4593G>C (p.Glu1531Asp) c.4539G>C (p.Glu1513Asp) c.4359G>C (p.Glu1453Asp) c.4308G>C (p.Glu1436Asp) c.4986G>C (p.Glu1662Asp) c.4635G>C (p.Glu1545Asp) c.4935G>C (p.Glu1645Asp)
2	g.120990648G>T	CA348180405	GLI2	c.4683G>T (p.Glu1561Asp) c.4734G>T (p.Glu1578Asp) c.3782G>T (n.3782G>T) c.2602G>T (n.2602G>T) c.3833G>T (n.3833G>T) c.2551G>T (n.2551G>T) c.4716G>T (p.Glu1572Asp) c.4593G>T (p.Glu1531Asp) c.4539G>T (p.Glu1513Asp) c.4359G>T (p.Glu1453Asp) c.4308G>T (p.Glu1436Asp) c.4986G>T (p.Glu1662Asp) c.4635G>T (p.Glu1545Asp) c.4935G>T (p.Glu1645Asp)	gnomAD v4
2	g.120990649A=	CA1283796217	GLI2	c.4684A= (p.Ser1562=) c.4735A= (p.Ser1579=) c.3783A= (n.3783A=) c.2603A= (n.2603A=) c.3834A= (n.3834A=) c.2552A= (n.2552A=) c.4717A= (p.Ser1573=) c.4594A= (p.Ser1532=) c.4540A= (p.Ser1514=) c.4360A= (p.Ser1454=) c.4309A= (p.Ser1437=) c.4987A= (p.Ser1663=) c.4636A= (p.Ser1546=) c.4936A= (p.Ser1646=)
2	g.120990649A>C	CA348180410	GLI2	c.4684A>C (p.Ser1562Arg) c.4735A>C (p.Ser1579Arg) c.3783A>C (n.3783A>C) c.2603A>C (n.2603A>C) c.3834A>C (n.3834A>C) c.2552A>C (n.2552A>C) c.4717A>C (p.Ser1573Arg) c.4594A>C (p.Ser1532Arg) c.4540A>C (p.Ser1514Arg) c.4360A>C (p.Ser1454Arg) c.4309A>C (p.Ser1437Arg) c.4987A>C (p.Ser1663Arg) c.4636A>C (p.Ser1546Arg) c.4936A>C (p.Ser1646Arg)
2	g.120990649A>G	CA348180408	GLI2	c.4684A>G (p.Ser1562Gly) c.4735A>G (p.Ser1579Gly) c.3783A>G (n.3783A>G) c.2603A>G (n.2603A>G) c.3834A>G (n.3834A>G) c.2552A>G (n.2552A>G) c.4717A>G (p.Ser1573Gly) c.4594A>G (p.Ser1532Gly) c.4540A>G (p.Ser1514Gly) c.4360A>G (p.Ser1454Gly) c.4309A>G (p.Ser1437Gly) c.4987A>G (p.Ser1663Gly) c.4636A>G (p.Ser1546Gly) c.4936A>G (p.Ser1646Gly)
2	g.120990649A>T	CA1852690	GLI2	c.4684A>T (p.Ser1562Cys) c.4735A>T (p.Ser1579Cys) c.3783A>T (n.3783A>T) c.2603A>T (n.2603A>T) c.3834A>T (n.3834A>T) c.2552A>T (n.2552A>T) c.4717A>T (p.Ser1573Cys) c.4594A>T (p.Ser1532Cys) c.4540A>T (p.Ser1514Cys) c.4360A>T (p.Ser1454Cys) c.4309A>T (p.Ser1437Cys) c.4987A>T (p.Ser1663Cys) c.4636A>T (p.Ser1546Cys) c.4936A>T (p.Ser1646Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.120990650G>A	CA1852691	GLI2	c.4685G>A (p.Ser1562Asn) c.4736G>A (p.Ser1579Asn) c.3784G>A (n.3784G>A) c.2604G>A (n.2604G>A) c.3835G>A (n.3835G>A) c.2553G>A (n.2553G>A) c.4718G>A (p.Ser1573Asn) c.4595G>A (p.Ser1532Asn) c.4541G>A (p.Ser1514Asn) c.4361G>A (p.Ser1454Asn) c.4310G>A (p.Ser1437Asn) c.4988G>A (p.Ser1663Asn) c.4637G>A (p.Ser1546Asn) c.4937G>A (p.Ser1646Asn)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.120990650G>C	CA348180412	GLI2	c.4685G>C (p.Ser1562Thr) c.4736G>C (p.Ser1579Thr) c.3784G>C (n.3784G>C) c.2604G>C (n.2604G>C) c.3835G>C (n.3835G>C) c.2553G>C (n.2553G>C) c.4718G>C (p.Ser1573Thr) c.4595G>C (p.Ser1532Thr) c.4541G>C (p.Ser1514Thr) c.4361G>C (p.Ser1454Thr) c.4310G>C (p.Ser1437Thr) c.4988G>C (p.Ser1663Thr) c.4637G>C (p.Ser1546Thr) c.4937G>C (p.Ser1646Thr)
2	g.120990650G=	CA1283796218	GLI2	c.4685G= (p.Ser1562=) c.4736G= (p.Ser1579=) c.3784G= (n.3784G=) c.2604G= (n.2604G=) c.3835G= (n.3835G=) c.2553G= (n.2553G=) c.4718G= (p.Ser1573=) c.4595G= (p.Ser1532=) c.4541G= (p.Ser1514=) c.4361G= (p.Ser1454=) c.4310G= (p.Ser1437=) c.4988G= (p.Ser1663=) c.4637G= (p.Ser1546=) c.4937G= (p.Ser1646=)
2	g.120990650G>T	CA348180414	GLI2	c.4685G>T (p.Ser1562Ile) c.4736G>T (p.Ser1579Ile) c.3784G>T (n.3784G>T) c.2604G>T (n.2604G>T) c.3835G>T (n.3835G>T) c.2553G>T (n.2553G>T) c.4718G>T (p.Ser1573Ile) c.4595G>T (p.Ser1532Ile) c.4541G>T (p.Ser1514Ile) c.4361G>T (p.Ser1454Ile) c.4310G>T (p.Ser1437Ile) c.4988G>T (p.Ser1663Ile) c.4637G>T (p.Ser1546Ile) c.4937G>T (p.Ser1646Ile)
2	g.120990651C>A	CA348180416	GLI2	c.4686C>A (p.Ser1562Arg) c.4737C>A (p.Ser1579Arg) c.3785C>A (n.3785C>A) c.2605C>A (n.2605C>A) c.3836C>A (n.3836C>A) c.2554C>A (n.2554C>A) c.4719C>A (p.Ser1573Arg) c.4596C>A (p.Ser1532Arg) c.4542C>A (p.Ser1514Arg) c.4362C>A (p.Ser1454Arg) c.4311C>A (p.Ser1437Arg) c.4989C>A (p.Ser1663Arg) c.4638C>A (p.Ser1546Arg) c.4938C>A (p.Ser1646Arg)	gnomAD v4
2	g.120990651C>G	CA348180417	GLI2	c.4686C>G (p.Ser1562Arg) c.4737C>G (p.Ser1579Arg) c.3785C>G (n.3785C>G) c.2605C>G (n.2605C>G) c.3836C>G (n.3836C>G) c.2554C>G (n.2554C>G) c.4719C>G (p.Ser1573Arg) c.4596C>G (p.Ser1532Arg) c.4542C>G (p.Ser1514Arg) c.4362C>G (p.Ser1454Arg) c.4311C>G (p.Ser1437Arg) c.4989C>G (p.Ser1663Arg) c.4638C>G (p.Ser1546Arg) c.4938C>G (p.Ser1646Arg)
2	g.120990651C>T	CA428559503	GLI2	c.4686C>T (p.Ser1562=) c.4737C>T (p.Ser1579=) c.3785C>T (n.3785C>T) c.2605C>T (n.2605C>T) c.3836C>T (n.3836C>T) c.2554C>T (n.2554C>T) c.4719C>T (p.Ser1573=) c.4596C>T (p.Ser1532=) c.4542C>T (p.Ser1514=) c.4362C>T (p.Ser1454=) c.4311C>T (p.Ser1437=) c.4989C>T (p.Ser1663=) c.4638C>T (p.Ser1546=) c.4938C>T (p.Ser1646=)
2	g.120990652A>C	CA348180420	GLI2	c.4687A>C (p.Lys1563Gln) c.4738A>C (p.Lys1580Gln) c.3786A>C (n.3786A>C) c.2606A>C (n.2606A>C) c.3837A>C (n.3837A>C) c.2555A>C (n.2555A>C) c.4720A>C (p.Lys1574Gln) c.4597A>C (p.Lys1533Gln) c.4543A>C (p.Lys1515Gln) c.4363A>C (p.Lys1455Gln) c.4312A>C (p.Lys1438Gln) c.4990A>C (p.Lys1664Gln) c.4639A>C (p.Lys1547Gln) c.4939A>C (p.Lys1647Gln)
2	g.120990652A>G	CA348180423	GLI2	c.4687A>G (p.Lys1563Glu) c.4738A>G (p.Lys1580Glu) c.3786A>G (n.3786A>G) c.2606A>G (n.2606A>G) c.3837A>G (n.3837A>G) c.2555A>G (n.2555A>G) c.4720A>G (p.Lys1574Glu) c.4597A>G (p.Lys1533Glu) c.4543A>G (p.Lys1515Glu) c.4363A>G (p.Lys1455Glu) c.4312A>G (p.Lys1438Glu) c.4990A>G (p.Lys1664Glu) c.4639A>G (p.Lys1547Glu) c.4939A>G (p.Lys1647Glu)	gnomAD v4
2	g.120990652A>T	CA348180425	GLI2	c.4687A>T (p.Lys1563Ter) c.4738A>T (p.Lys1580Ter) c.3786A>T (n.3786A>T) c.2606A>T (n.2606A>T) c.3837A>T (n.3837A>T) c.2555A>T (n.2555A>T) c.4720A>T (p.Lys1574Ter) c.4597A>T (p.Lys1533Ter) c.4543A>T (p.Lys1515Ter) c.4363A>T (p.Lys1455Ter) c.4312A>T (p.Lys1438Ter) c.4990A>T (p.Lys1664Ter) c.4639A>T (p.Lys1547Ter) c.4939A>T (p.Lys1647Ter)

Number of alleles fetched