Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
2 | g.120990653A= | CA1283796219 | GLI2 | c.4688A= (p.Lys1563=) c.4739A= (p.Lys1580=) c.*3787A= (n.*3787A=) c.*2607A= (n.*2607A=) c.*3838A= (n.*3838A=) c.*2556A= (n.*2556A=) c.4721A= (p.Lys1574=) c.4598A= (p.Lys1533=) c.4544A= (p.Lys1515=) c.4364A= (p.Lys1455=) c.4313A= (p.Lys1438=) c.4991A= (p.Lys1664=) c.4640A= (p.Lys1547=) c.4940A= (p.Lys1647=) | |
2 | g.120990653A>C | CA348180427 | GLI2 | c.4688A>C (p.Lys1563Thr) c.4739A>C (p.Lys1580Thr) c.*3787A>C (n.*3787A>C) c.*2607A>C (n.*2607A>C) c.*3838A>C (n.*3838A>C) c.*2556A>C (n.*2556A>C) c.4721A>C (p.Lys1574Thr) c.4598A>C (p.Lys1533Thr) c.4544A>C (p.Lys1515Thr) c.4364A>C (p.Lys1455Thr) c.4313A>C (p.Lys1438Thr) c.4991A>C (p.Lys1664Thr) c.4640A>C (p.Lys1547Thr) c.4940A>C (p.Lys1647Thr) | |
2 | g.120990653A>G | CA348180430 | GLI2 | c.4688A>G (p.Lys1563Arg) c.4739A>G (p.Lys1580Arg) c.*3787A>G (n.*3787A>G) c.*2607A>G (n.*2607A>G) c.*3838A>G (n.*3838A>G) c.*2556A>G (n.*2556A>G) c.4721A>G (p.Lys1574Arg) c.4598A>G (p.Lys1533Arg) c.4544A>G (p.Lys1515Arg) c.4364A>G (p.Lys1455Arg) c.4313A>G (p.Lys1438Arg) c.4991A>G (p.Lys1664Arg) c.4640A>G (p.Lys1547Arg) c.4940A>G (p.Lys1647Arg) | ClinVar dbSNP |
2 | g.120990653A>T | CA348180433 | GLI2 | c.4688A>T (p.Lys1563Met) c.4739A>T (p.Lys1580Met) c.*3787A>T (n.*3787A>T) c.*2607A>T (n.*2607A>T) c.*3838A>T (n.*3838A>T) c.*2556A>T (n.*2556A>T) c.4721A>T (p.Lys1574Met) c.4598A>T (p.Lys1533Met) c.4544A>T (p.Lys1515Met) c.4364A>T (p.Lys1455Met) c.4313A>T (p.Lys1438Met) c.4991A>T (p.Lys1664Met) c.4640A>T (p.Lys1547Met) c.4940A>T (p.Lys1647Met) | |
2 | g.120990654G>A | CA428559504 | GLI2 | c.4689G>A (p.Lys1563=) c.4740G>A (p.Lys1580=) c.*3788G>A (n.*3788G>A) c.*2608G>A (n.*2608G>A) c.*3839G>A (n.*3839G>A) c.*2557G>A (n.*2557G>A) c.4722G>A (p.Lys1574=) c.4599G>A (p.Lys1533=) c.4545G>A (p.Lys1515=) c.4365G>A (p.Lys1455=) c.4314G>A (p.Lys1438=) c.4992G>A (p.Lys1664=) c.4641G>A (p.Lys1547=) c.4941G>A (p.Lys1647=) | gnomAD v4 |
2 | g.120990654G>C | CA348180436 | GLI2 | c.4689G>C (p.Lys1563Asn) c.4740G>C (p.Lys1580Asn) c.*3788G>C (n.*3788G>C) c.*2608G>C (n.*2608G>C) c.*3839G>C (n.*3839G>C) c.*2557G>C (n.*2557G>C) c.4722G>C (p.Lys1574Asn) c.4599G>C (p.Lys1533Asn) c.4545G>C (p.Lys1515Asn) c.4365G>C (p.Lys1455Asn) c.4314G>C (p.Lys1438Asn) c.4992G>C (p.Lys1664Asn) c.4641G>C (p.Lys1547Asn) c.4941G>C (p.Lys1647Asn) | |
2 | g.120990654G>T | CA348180437 | GLI2 | c.4689G>T (p.Lys1563Asn) c.4740G>T (p.Lys1580Asn) c.*3788G>T (n.*3788G>T) c.*2608G>T (n.*2608G>T) c.*3839G>T (n.*3839G>T) c.*2557G>T (n.*2557G>T) c.4722G>T (p.Lys1574Asn) c.4599G>T (p.Lys1533Asn) c.4545G>T (p.Lys1515Asn) c.4365G>T (p.Lys1455Asn) c.4314G>T (p.Lys1438Asn) c.4992G>T (p.Lys1664Asn) c.4641G>T (p.Lys1547Asn) c.4941G>T (p.Lys1647Asn) | |
2 | g.120990655T>A | CA348180440 | GLI2 | c.4690T>A (p.Phe1564Ile) c.4741T>A (p.Phe1581Ile) c.*3789T>A (n.*3789T>A) c.*2609T>A (n.*2609T>A) c.*3840T>A (n.*3840T>A) c.*2558T>A (n.*2558T>A) c.4723T>A (p.Phe1575Ile) c.4600T>A (p.Phe1534Ile) c.4546T>A (p.Phe1516Ile) c.4366T>A (p.Phe1456Ile) c.4315T>A (p.Phe1439Ile) c.4993T>A (p.Phe1665Ile) c.4642T>A (p.Phe1548Ile) c.4942T>A (p.Phe1648Ile) | |
2 | g.120990655T>C | CA348180444 | GLI2 | c.4690T>C (p.Phe1564Leu) c.4741T>C (p.Phe1581Leu) c.*3789T>C (n.*3789T>C) c.*2609T>C (n.*2609T>C) c.*3840T>C (n.*3840T>C) c.*2558T>C (n.*2558T>C) c.4723T>C (p.Phe1575Leu) c.4600T>C (p.Phe1534Leu) c.4546T>C (p.Phe1516Leu) c.4366T>C (p.Phe1456Leu) c.4315T>C (p.Phe1439Leu) c.4993T>C (p.Phe1665Leu) c.4642T>C (p.Phe1548Leu) c.4942T>C (p.Phe1648Leu) | |
2 | g.120990655T>G | CA348180441 | GLI2 | c.4690T>G (p.Phe1564Val) c.4741T>G (p.Phe1581Val) c.*3789T>G (n.*3789T>G) c.*2609T>G (n.*2609T>G) c.*3840T>G (n.*3840T>G) c.*2558T>G (n.*2558T>G) c.4723T>G (p.Phe1575Val) c.4600T>G (p.Phe1534Val) c.4546T>G (p.Phe1516Val) c.4366T>G (p.Phe1456Val) c.4315T>G (p.Phe1439Val) c.4993T>G (p.Phe1665Val) c.4642T>G (p.Phe1548Val) c.4942T>G (p.Phe1648Val) | |
2 | g.120990656T>A | CA348180447 | GLI2 | c.4691T>A (p.Phe1564Tyr) c.4742T>A (p.Phe1581Tyr) c.*3790T>A (n.*3790T>A) c.*2610T>A (n.*2610T>A) c.*3841T>A (n.*3841T>A) c.*2559T>A (n.*2559T>A) c.4724T>A (p.Phe1575Tyr) c.4601T>A (p.Phe1534Tyr) c.4547T>A (p.Phe1516Tyr) c.4367T>A (p.Phe1456Tyr) c.4316T>A (p.Phe1439Tyr) c.4994T>A (p.Phe1665Tyr) c.4643T>A (p.Phe1548Tyr) c.4943T>A (p.Phe1648Tyr) | |
2 | g.120990656T>C | CA348180448 | GLI2 | c.4691T>C (p.Phe1564Ser) c.4742T>C (p.Phe1581Ser) c.*3790T>C (n.*3790T>C) c.*2610T>C (n.*2610T>C) c.*3841T>C (n.*3841T>C) c.*2559T>C (n.*2559T>C) c.4724T>C (p.Phe1575Ser) c.4601T>C (p.Phe1534Ser) c.4547T>C (p.Phe1516Ser) c.4367T>C (p.Phe1456Ser) c.4316T>C (p.Phe1439Ser) c.4994T>C (p.Phe1665Ser) c.4643T>C (p.Phe1548Ser) c.4943T>C (p.Phe1648Ser) | |
2 | g.120990656T>G | CA348180450 | GLI2 | c.4691T>G (p.Phe1564Cys) c.4742T>G (p.Phe1581Cys) c.*3790T>G (n.*3790T>G) c.*2610T>G (n.*2610T>G) c.*3841T>G (n.*3841T>G) c.*2559T>G (n.*2559T>G) c.4724T>G (p.Phe1575Cys) c.4601T>G (p.Phe1534Cys) c.4547T>G (p.Phe1516Cys) c.4367T>G (p.Phe1456Cys) c.4316T>G (p.Phe1439Cys) c.4994T>G (p.Phe1665Cys) c.4643T>G (p.Phe1548Cys) c.4943T>G (p.Phe1648Cys) | |
2 | g.120990657C>A | CA348180452 | GLI2 | c.4692C>A (p.Phe1564Leu) c.4743C>A (p.Phe1581Leu) c.*3791C>A (n.*3791C>A) c.*2611C>A (n.*2611C>A) c.*3842C>A (n.*3842C>A) c.*2560C>A (n.*2560C>A) c.4725C>A (p.Phe1575Leu) c.4602C>A (p.Phe1534Leu) c.4548C>A (p.Phe1516Leu) c.4368C>A (p.Phe1456Leu) c.4317C>A (p.Phe1439Leu) c.4995C>A (p.Phe1665Leu) c.4644C>A (p.Phe1548Leu) c.4944C>A (p.Phe1648Leu) | |
2 | g.120990657C= | CA1283796220 | GLI2 | c.4692C= (p.Phe1564=) c.4743C= (p.Phe1581=) c.*3791C= (n.*3791C=) c.*2611C= (n.*2611C=) c.*3842C= (n.*3842C=) c.*2560C= (n.*2560C=) c.4725C= (p.Phe1575=) c.4602C= (p.Phe1534=) c.4548C= (p.Phe1516=) c.4368C= (p.Phe1456=) c.4317C= (p.Phe1439=) c.4995C= (p.Phe1665=) c.4644C= (p.Phe1548=) c.4944C= (p.Phe1648=) | |
2 | g.120990657C>G | CA348180453 | GLI2 | c.4692C>G (p.Phe1564Leu) c.4743C>G (p.Phe1581Leu) c.*3791C>G (n.*3791C>G) c.*2611C>G (n.*2611C>G) c.*3842C>G (n.*3842C>G) c.*2560C>G (n.*2560C>G) c.4725C>G (p.Phe1575Leu) c.4602C>G (p.Phe1534Leu) c.4548C>G (p.Phe1516Leu) c.4368C>G (p.Phe1456Leu) c.4317C>G (p.Phe1439Leu) c.4995C>G (p.Phe1665Leu) c.4644C>G (p.Phe1548Leu) c.4944C>G (p.Phe1648Leu) | dbSNP |
2 | g.120990657C>T | CA428559505 | GLI2 | c.4692C>T (p.Phe1564=) c.4743C>T (p.Phe1581=) c.*3791C>T (n.*3791C>T) c.*2611C>T (n.*2611C>T) c.*3842C>T (n.*3842C>T) c.*2560C>T (n.*2560C>T) c.4725C>T (p.Phe1575=) c.4602C>T (p.Phe1534=) c.4548C>T (p.Phe1516=) c.4368C>T (p.Phe1456=) c.4317C>T (p.Phe1439=) c.4995C>T (p.Phe1665=) c.4644C>T (p.Phe1548=) c.4944C>T (p.Phe1648=) | dbSNP gnomAD v3 gnomAD v4 |