Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.120990612G>ACA428559484GLI2c.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
2g.120990612G>CCA428559485GLI2c.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=)
2g.120990612G=CA1283796198GLI2c.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=)
2g.120990612G>TCA428559486GLI2c.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=)
2g.120990613G>ACA348180275GLI2c.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
2g.120990613G>CCA348180276GLI2c.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)
2g.120990613G=CA1283796199GLI2c.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=)
2g.120990613G>TCA348180277GLI2c.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)
2g.120990614A=CA1283796200GLI2c.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=)
2g.120990614A>CCA348180280GLI2c.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)
2g.120990614A>GCA348180279GLI2c.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
2g.120990614A>TCA348180278GLI2c.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)
2g.120990615C>ACA348180281GLI2c.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)
2g.120990615C=CA1283796201GLI2c.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=)
2g.120990615C>GCA348180282GLI2c.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)
2g.120990615C>TCA428559487GLI2c.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
2g.120990616A>CCA348180283GLI2c.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
2g.120990616A>GCA348180284GLI2c.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)
2g.120990616A>TCA348180285GLI2c.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)
2g.120990617T>ACA348180286GLI2c.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)
2g.120990617T>CCA348180287GLI2c.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)
2g.120990617T>GCA348180288GLI2c.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)
2g.120990618G>ACA348180289GLI2c.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
2g.120990618G>CCA348180290GLI2c.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)
2g.120990618G>TCA348180291GLI2c.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)
2g.120990619A>CCA348180292GLI2c.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)
2g.120990619A>GCA348180293GLI2c.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
2g.120990619A>TCA348180294GLI2c.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)
2g.120990620G>ACA348180297GLI2c.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
2g.120990620G>CCA348180295GLI2c.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)
2g.120990620G=CA1283796202GLI2c.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=)
2g.120990620G>TCA348180296GLI2c.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)
2g.120990621C>ACA348180298GLI2c.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)
2g.120990621C=CA1283796203GLI2c.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=)
2g.120990621C>GCA348180299GLI2c.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
2g.120990621C>TCA428559488GLI2c.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
2g.120990622T>ACA348180300GLI2c.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)
2g.120990622T>CCA348180301GLI2c.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)
2g.120990622T>GCA348180302GLI2c.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)
2g.120990623C>ACA348180303GLI2c.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)
2g.120990623C=CA1283796204GLI2c.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=)
2g.120990623C>GCA348180304GLI2c.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)
2g.120990623C>TCA54386612GLI2c.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
2g.120990624delCA2577084729GLI2c.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)
2g.120990624C>ACA428559489GLI2c.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=)
2g.120990624C=CA1283796205GLI2c.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=)
2g.120990624C>GCA428559491GLI2c.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
2g.120990624C>TCA428559490GLI2c.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=)
2g.120990625A=CA1283796206GLI2c.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=)
2g.120990625A>CCA348180305GLI2c.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)
2g.120990625A>GCA348180306GLI2c.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
2g.120990625A>TCA348180307GLI2c.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)
2g.120990626T>ACA348180310GLI2c.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)
2g.120990626T>CCA348180309GLI2c.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)
2g.120990626T>GCA348180308GLI2c.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)
2g.120990627G>ACA348180311GLI2c.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)
2g.120990627G>CCA348180312GLI2c.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)
2g.120990627G>TCA348180313GLI2c.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)
2g.120990628C>ACA348180314GLI2c.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)
2g.120990628C>GCA348180315GLI2c.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)
2g.120990628C>TCA348180316GLI2c.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)
2g.120990629T>ACA348180317GLI2c.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)
2g.120990629T>CCA348180318GLI2c.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)
2g.120990629T>GCA348180319GLI2c.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)
2g.120990630C>ACA428559492GLI2c.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=)
2g.120990630C=CA1283796207GLI2c.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=)
2g.120990630C>GCA428559493GLI2c.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=)
2g.120990630C>TCA1852684GLI2c.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
2g.120990631A=CA1283796208GLI2c.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=)
2g.120990631A>CCA348180320GLI2c.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
2g.120990631A>GCA348180321GLI2c.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)
2g.120990631A>TCA348180322GLI2c.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)
2g.120990632C>ACA348180326GLI2c.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
2g.120990632C=CA1283796209GLI2c.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=)
2g.120990632C>GCA348180323GLI2c.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)
2g.120990632C>TCA348180324GLI2c.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)
2g.120990633C>ACA1852685GLI2c.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
2g.120990633C=CA1283796210GLI2c.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=)
2g.120990633C>GCA428559494GLI2c.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=)
2g.120990633C>TCA428559495GLI2c.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=)
2g.120990634A>CCA348180333GLI2c.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)
2g.120990634A>GCA348180336GLI2c.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
2g.120990634A>TCA348180338GLI2c.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)
2g.120990635G>ACA348180341GLI2c.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)
2g.120990635G>CCA348180342GLI2c.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)
2g.120990635G>TCA348180343GLI2c.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)
2g.120990636C>ACA348180346GLI2c.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)
2g.120990636C=CA1283796211GLI2c.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=)
2g.120990636C>GCA348180348GLI2c.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)
2g.120990636C>TCA428559496GLI2c.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
2g.120990637C>ACA348180350GLI2c.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)
2g.120990637C>GCA348180352GLI2c.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)
2g.120990637C>TCA348180353GLI2c.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)
2g.120990638T>ACA348180357GLI2c.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)
2g.120990638T>CCA348180358GLI2c.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)
2g.120990638T>GCA348180356GLI2c.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)
2g.120990639C>ACA428559497GLI2c.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=)
2g.120990639C=CA1283796212GLI2c.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=)
2g.120990639C>GCA428559498GLI2c.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
2g.120990639C>TCA1852686GLI2c.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
2g.120990640G>ACA54386628GLI2c.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
2g.120990640G>CCA1852687GLI2c.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
2g.120990640G=CA1283796213GLI2c.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=)
2g.120990640G>TCA348180366GLI2c.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
2g.120990641C>ACA348180368GLI2c.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)
2g.120990641C>GCA348180372GLI2c.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)
2g.120990641C>TCA348180369GLI2c.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)
2g.120990642C>ACA428559499GLI2c.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
2g.120990642C=CA1283796214GLI2c.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=)
2g.120990642C>GCA428559500GLI2c.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
2g.120990642C>TCA1852688GLI2c.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
2g.120990643G>ACA1852689GLI2c.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
2g.120990643G>CCA348180375GLI2c.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
2g.120990643G=CA1283796215GLI2c.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=)
2g.120990643G>TCA348180381GLI2c.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)
2g.120990644A=CA1283796216GLI2c.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=)
2g.120990644A>CCA348180384GLI2c.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)
2g.120990644A>GCA348180385GLI2c.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)
2g.120990644A>TCA348180386GLI2c.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
2g.120990645G>ACA428559501GLI2c.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=)
2g.120990645G>CCA348180388GLI2c.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)
2g.120990645G>TCA348180389GLI2c.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)
2g.120990646dupCA535600731GLI2c.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
2g.120990646G>ACA348180395GLI2c.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)
2g.120990646G>CCA348180391GLI2c.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)
2g.120990646G>TCA348180393GLI2c.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)
2g.120990647A>CCA348180398GLI2c.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)
2g.120990647A>GCA348180400GLI2c.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)
2g.120990647A>TCA348180402GLI2c.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)
2g.120990648G>ACA428559502GLI2c.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
2g.120990648G>CCA348180403GLI2c.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)
2g.120990648G>TCA348180405GLI2c.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
2g.120990649A=CA1283796217GLI2c.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=)
2g.120990649A>CCA348180410GLI2c.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)
2g.120990649A>GCA348180408GLI2c.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)
2g.120990649A>TCA1852690GLI2c.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
2g.120990650G>ACA1852691GLI2c.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
2g.120990650G>CCA348180412GLI2c.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)
2g.120990650G=CA1283796218GLI2c.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=)
2g.120990650G>TCA348180414GLI2c.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)
2g.120990651C>ACA348180416GLI2c.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
2g.120990651C>GCA348180417GLI2c.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)
2g.120990651C>TCA428559503GLI2c.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=)
2g.120990652A>CCA348180420GLI2c.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)
2g.120990652A>GCA348180423GLI2c.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
2g.120990652A>TCA348180425GLI2c.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)
2g.120990653A=CA1283796219GLI2c.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=)
2g.120990653A>CCA348180427GLI2c.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)
2g.120990653A>GCA348180430GLI2c.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
2g.120990653A>TCA348180433GLI2c.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)
2g.120990654G>ACA428559504GLI2c.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
2g.120990654G>CCA348180436GLI2c.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)
2g.120990654G>TCA348180437GLI2c.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)
2g.120990655T>ACA348180440GLI2c.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)
2g.120990655T>CCA348180444GLI2c.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)
2g.120990655T>GCA348180441GLI2c.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)
2g.120990656T>ACA348180447GLI2c.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)
2g.120990656T>CCA348180448GLI2c.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)
2g.120990656T>GCA348180450GLI2c.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)
2g.120990657C>ACA348180452GLI2c.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)
2g.120990657C=CA1283796220GLI2c.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=)
2g.120990657C>GCA348180453GLI2c.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
2g.120990657C>TCA428559505GLI2c.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
2g.120990658C>ACA348180454GLI2c.4693C>A (p.Leu1565Met)
c.4744C>A (p.Leu1582Met)
c.*3792C>A (n.*3792C>A)
c.*2612C>A (n.*2612C>A)
c.*3843C>A (n.*3843C>A)
c.*2561C>A (n.*2561C>A)
c.4726C>A (p.Leu1576Met)
c.4603C>A (p.Leu1535Met)
c.4549C>A (p.Leu1517Met)
c.4369C>A (p.Leu1457Met)
c.4318C>A (p.Leu1440Met)
c.4996C>A (p.Leu1666Met)
c.4645C>A (p.Leu1549Met)
c.4945C>A (p.Leu1649Met)
2g.120990658C>GCA348180456GLI2c.4693C>G (p.Leu1565Val)
c.4744C>G (p.Leu1582Val)
c.*3792C>G (n.*3792C>G)
c.*2612C>G (n.*2612C>G)
c.*3843C>G (n.*3843C>G)
c.*2561C>G (n.*2561C>G)
c.4726C>G (p.Leu1576Val)
c.4603C>G (p.Leu1535Val)
c.4549C>G (p.Leu1517Val)
c.4369C>G (p.Leu1457Val)
c.4318C>G (p.Leu1440Val)
c.4996C>G (p.Leu1666Val)
c.4645C>G (p.Leu1549Val)
c.4945C>G (p.Leu1649Val)
2g.120990658C>TCA428559506GLI2c.4693C>T (p.Leu1565=)
c.4744C>T (p.Leu1582=)
c.*3792C>T (n.*3792C>T)
c.*2612C>T (n.*2612C>T)
c.*3843C>T (n.*3843C>T)
c.*2561C>T (n.*2561C>T)
c.4726C>T (p.Leu1576=)
c.4603C>T (p.Leu1535=)
c.4549C>T (p.Leu1517=)
c.4369C>T (p.Leu1457=)
c.4318C>T (p.Leu1440=)
c.4996C>T (p.Leu1666=)
c.4645C>T (p.Leu1549=)
c.4945C>T (p.Leu1649=)
 COSMIC
2g.120990659T>ACA348180461GLI2c.4694T>A (p.Leu1565Gln)
c.4745T>A (p.Leu1582Gln)
c.*3793T>A (n.*3793T>A)
c.*2613T>A (n.*2613T>A)
c.*3844T>A (n.*3844T>A)
c.*2562T>A (n.*2562T>A)
c.4727T>A (p.Leu1576Gln)
c.4604T>A (p.Leu1535Gln)
c.4550T>A (p.Leu1517Gln)
c.4370T>A (p.Leu1457Gln)
c.4319T>A (p.Leu1440Gln)
c.4997T>A (p.Leu1666Gln)
c.4646T>A (p.Leu1549Gln)
c.4946T>A (p.Leu1649Gln)
2g.120990659T>CCA348180462GLI2c.4694T>C (p.Leu1565Pro)
c.4745T>C (p.Leu1582Pro)
c.*3793T>C (n.*3793T>C)
c.*2613T>C (n.*2613T>C)
c.*3844T>C (n.*3844T>C)
c.*2562T>C (n.*2562T>C)
c.4727T>C (p.Leu1576Pro)
c.4604T>C (p.Leu1535Pro)
c.4550T>C (p.Leu1517Pro)
c.4370T>C (p.Leu1457Pro)
c.4319T>C (p.Leu1440Pro)
c.4997T>C (p.Leu1666Pro)
c.4646T>C (p.Leu1549Pro)
c.4946T>C (p.Leu1649Pro)
2g.120990659T>GCA348180463GLI2c.4694T>G (p.Leu1565Arg)
c.4745T>G (p.Leu1582Arg)
c.*3793T>G (n.*3793T>G)
c.*2613T>G (n.*2613T>G)
c.*3844T>G (n.*3844T>G)
c.*2562T>G (n.*2562T>G)
c.4727T>G (p.Leu1576Arg)
c.4604T>G (p.Leu1535Arg)
c.4550T>G (p.Leu1517Arg)
c.4370T>G (p.Leu1457Arg)
c.4319T>G (p.Leu1440Arg)
c.4997T>G (p.Leu1666Arg)
c.4646T>G (p.Leu1549Arg)
c.4946T>G (p.Leu1649Arg)
2g.120990660G>ACA428559508GLI2c.4695G>A (p.Leu1565=)
c.4746G>A (p.Leu1582=)
c.*3794G>A (n.*3794G>A)
c.*2614G>A (n.*2614G>A)
c.*3845G>A (n.*3845G>A)
c.*2563G>A (n.*2563G>A)
c.4728G>A (p.Leu1576=)
c.4605G>A (p.Leu1535=)
c.4551G>A (p.Leu1517=)
c.4371G>A (p.Leu1457=)
c.4320G>A (p.Leu1440=)
c.4998G>A (p.Leu1666=)
c.4647G>A (p.Leu1549=)
c.4947G>A (p.Leu1649=)
2g.120990660G>CCA428559509GLI2c.4695G>C (p.Leu1565=)
c.4746G>C (p.Leu1582=)
c.*3794G>C (n.*3794G>C)
c.*2614G>C (n.*2614G>C)
c.*3845G>C (n.*3845G>C)
c.*2563G>C (n.*2563G>C)
c.4728G>C (p.Leu1576=)
c.4605G>C (p.Leu1535=)
c.4551G>C (p.Leu1517=)
c.4371G>C (p.Leu1457=)
c.4320G>C (p.Leu1440=)
c.4998G>C (p.Leu1666=)
c.4647G>C (p.Leu1549=)
c.4947G>C (p.Leu1649=)
 dbSNP
2g.120990660G>TCA428559507GLI2c.4695G>T (p.Leu1565=)
c.4746G>T (p.Leu1582=)
c.*3794G>T (n.*3794G>T)
c.*2614G>T (n.*2614G>T)
c.*3845G>T (n.*3845G>T)
c.*2563G>T (n.*2563G>T)
c.4728G>T (p.Leu1576=)
c.4605G>T (p.Leu1535=)
c.4551G>T (p.Leu1517=)
c.4371G>T (p.Leu1457=)
c.4320G>T (p.Leu1440=)
c.4998G>T (p.Leu1666=)
c.4647G>T (p.Leu1549=)
c.4947G>T (p.Leu1649=)
2g.120990661A>CCA348180466GLI2c.4696A>C (p.Asn1566His)
c.4747A>C (p.Asn1583His)
c.*3795A>C (n.*3795A>C)
c.*2615A>C (n.*2615A>C)
c.*3846A>C (n.*3846A>C)
c.*2564A>C (n.*2564A>C)
c.4729A>C (p.Asn1577His)
c.4606A>C (p.Asn1536His)
c.4552A>C (p.Asn1518His)
c.4372A>C (p.Asn1458His)
c.4321A>C (p.Asn1441His)
c.4999A>C (p.Asn1667His)
c.4648A>C (p.Asn1550His)
c.4948A>C (p.Asn1650His)
2g.120990661A>GCA348180468GLI2c.4696A>G (p.Asn1566Asp)
c.4747A>G (p.Asn1583Asp)
c.*3795A>G (n.*3795A>G)
c.*2615A>G (n.*2615A>G)
c.*3846A>G (n.*3846A>G)
c.*2564A>G (n.*2564A>G)
c.4729A>G (p.Asn1577Asp)
c.4606A>G (p.Asn1536Asp)
c.4552A>G (p.Asn1518Asp)
c.4372A>G (p.Asn1458Asp)
c.4321A>G (p.Asn1441Asp)
c.4999A>G (p.Asn1667Asp)
c.4648A>G (p.Asn1550Asp)
c.4948A>G (p.Asn1650Asp)
2g.120990661A>TCA348180470GLI2c.4696A>T (p.Asn1566Tyr)
c.4747A>T (p.Asn1583Tyr)
c.*3795A>T (n.*3795A>T)
c.*2615A>T (n.*2615A>T)
c.*3846A>T (n.*3846A>T)
c.*2564A>T (n.*2564A>T)
c.4729A>T (p.Asn1577Tyr)
c.4606A>T (p.Asn1536Tyr)
c.4552A>T (p.Asn1518Tyr)
c.4372A>T (p.Asn1458Tyr)
c.4321A>T (p.Asn1441Tyr)
c.4999A>T (p.Asn1667Tyr)
c.4648A>T (p.Asn1550Tyr)
c.4948A>T (p.Asn1650Tyr)
2g.120990662A>CCA348180479GLI2c.4697A>C (p.Asn1566Thr)
c.4748A>C (p.Asn1583Thr)
c.*3796A>C (n.*3796A>C)
c.*2616A>C (n.*2616A>C)
c.*3847A>C (n.*3847A>C)
c.*2565A>C (n.*2565A>C)
c.4730A>C (p.Asn1577Thr)
c.4607A>C (p.Asn1536Thr)
c.4553A>C (p.Asn1518Thr)
c.4373A>C (p.Asn1458Thr)
c.4322A>C (p.Asn1441Thr)
c.5000A>C (p.Asn1667Thr)
c.4649A>C (p.Asn1550Thr)
c.4949A>C (p.Asn1650Thr)
2g.120990662A>GCA348180474GLI2c.4697A>G (p.Asn1566Ser)
c.4748A>G (p.Asn1583Ser)
c.*3796A>G (n.*3796A>G)
c.*2616A>G (n.*2616A>G)
c.*3847A>G (n.*3847A>G)
c.*2565A>G (n.*2565A>G)
c.4730A>G (p.Asn1577Ser)
c.4607A>G (p.Asn1536Ser)
c.4553A>G (p.Asn1518Ser)
c.4373A>G (p.Asn1458Ser)
c.4322A>G (p.Asn1441Ser)
c.5000A>G (p.Asn1667Ser)
c.4649A>G (p.Asn1550Ser)
c.4949A>G (p.Asn1650Ser)
 gnomAD v4
2g.120990662A>TCA348180477GLI2c.4697A>T (p.Asn1566Ile)
c.4748A>T (p.Asn1583Ile)
c.*3796A>T (n.*3796A>T)
c.*2616A>T (n.*2616A>T)
c.*3847A>T (n.*3847A>T)
c.*2565A>T (n.*2565A>T)
c.4730A>T (p.Asn1577Ile)
c.4607A>T (p.Asn1536Ile)
c.4553A>T (p.Asn1518Ile)
c.4373A>T (p.Asn1458Ile)
c.4322A>T (p.Asn1441Ile)
c.5000A>T (p.Asn1667Ile)
c.4649A>T (p.Asn1550Ile)
c.4949A>T (p.Asn1650Ile)
2g.120990663C>ACA348180483GLI2c.4698C>A (p.Asn1566Lys)
c.4749C>A (p.Asn1583Lys)
c.*3797C>A (n.*3797C>A)
c.*2617C>A (n.*2617C>A)
c.*3848C>A (n.*3848C>A)
c.*2566C>A (n.*2566C>A)
c.4731C>A (p.Asn1577Lys)
c.4608C>A (p.Asn1536Lys)
c.4554C>A (p.Asn1518Lys)
c.4374C>A (p.Asn1458Lys)
c.4323C>A (p.Asn1441Lys)
c.5001C>A (p.Asn1667Lys)
c.4650C>A (p.Asn1550Lys)
c.4950C>A (p.Asn1650Lys)
2g.120990663C>GCA348180493GLI2c.4698C>G (p.Asn1566Lys)
c.4749C>G (p.Asn1583Lys)
c.*3797C>G (n.*3797C>G)
c.*2617C>G (n.*2617C>G)
c.*3848C>G (n.*3848C>G)
c.*2566C>G (n.*2566C>G)
c.4731C>G (p.Asn1577Lys)
c.4608C>G (p.Asn1536Lys)
c.4554C>G (p.Asn1518Lys)
c.4374C>G (p.Asn1458Lys)
c.4323C>G (p.Asn1441Lys)
c.5001C>G (p.Asn1667Lys)
c.4650C>G (p.Asn1550Lys)
c.4950C>G (p.Asn1650Lys)
2g.120990663C>TCA428559510GLI2c.4698C>T (p.Asn1566=)
c.4749C>T (p.Asn1583=)
c.*3797C>T (n.*3797C>T)
c.*2617C>T (n.*2617C>T)
c.*3848C>T (n.*3848C>T)
c.*2566C>T (n.*2566C>T)
c.4731C>T (p.Asn1577=)
c.4608C>T (p.Asn1536=)
c.4554C>T (p.Asn1518=)
c.4374C>T (p.Asn1458=)
c.4323C>T (p.Asn1441=)
c.5001C>T (p.Asn1667=)
c.4650C>T (p.Asn1550=)
c.4950C>T (p.Asn1650=)
2g.120990664A=CA1283796221GLI2c.4699A= (p.Met1567=)
c.4750A= (p.Met1584=)
c.*3798A= (n.*3798A=)
c.*2618A= (n.*2618A=)
c.*3849A= (n.*3849A=)
c.*2567A= (n.*2567A=)
c.4732A= (p.Met1578=)
c.4609A= (p.Met1537=)
c.4555A= (p.Met1519=)
c.4375A= (p.Met1459=)
c.4324A= (p.Met1442=)
c.5002A= (p.Met1668=)
c.4651A= (p.Met1551=)
c.4951A= (p.Met1651=)
2g.120990664A>CCA348180495GLI2c.4699A>C (p.Met1567Leu)
c.4750A>C (p.Met1584Leu)
c.*3798A>C (n.*3798A>C)
c.*2618A>C (n.*2618A>C)
c.*3849A>C (n.*3849A>C)
c.*2567A>C (n.*2567A>C)
c.4732A>C (p.Met1578Leu)
c.4609A>C (p.Met1537Leu)
c.4555A>C (p.Met1519Leu)
c.4375A>C (p.Met1459Leu)
c.4324A>C (p.Met1442Leu)
c.5002A>C (p.Met1668Leu)
c.4651A>C (p.Met1551Leu)
c.4951A>C (p.Met1651Leu)
2g.120990664A>GCA1852692GLI2c.4699A>G (p.Met1567Val)
c.4750A>G (p.Met1584Val)
c.*3798A>G (n.*3798A>G)
c.*2618A>G (n.*2618A>G)
c.*3849A>G (n.*3849A>G)
c.*2567A>G (n.*2567A>G)
c.4732A>G (p.Met1578Val)
c.4609A>G (p.Met1537Val)
c.4555A>G (p.Met1519Val)
c.4375A>G (p.Met1459Val)
c.4324A>G (p.Met1442Val)
c.5002A>G (p.Met1668Val)
c.4651A>G (p.Met1551Val)
c.4951A>G (p.Met1651Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120990664A>TCA348180498GLI2c.4699A>T (p.Met1567Leu)
c.4750A>T (p.Met1584Leu)
c.*3798A>T (n.*3798A>T)
c.*2618A>T (n.*2618A>T)
c.*3849A>T (n.*3849A>T)
c.*2567A>T (n.*2567A>T)
c.4732A>T (p.Met1578Leu)
c.4609A>T (p.Met1537Leu)
c.4555A>T (p.Met1519Leu)
c.4375A>T (p.Met1459Leu)
c.4324A>T (p.Met1442Leu)
c.5002A>T (p.Met1668Leu)
c.4651A>T (p.Met1551Leu)
c.4951A>T (p.Met1651Leu)
2g.120990665T>ACA348180500GLI2c.4700T>A (p.Met1567Lys)
c.4751T>A (p.Met1584Lys)
c.*3799T>A (n.*3799T>A)
c.*2619T>A (n.*2619T>A)
c.*3850T>A (n.*3850T>A)
c.*2568T>A (n.*2568T>A)
c.4733T>A (p.Met1578Lys)
c.4610T>A (p.Met1537Lys)
c.4556T>A (p.Met1519Lys)
c.4376T>A (p.Met1459Lys)
c.4325T>A (p.Met1442Lys)
c.5003T>A (p.Met1668Lys)
c.4652T>A (p.Met1551Lys)
c.4952T>A (p.Met1651Lys)
2g.120990665T>CCA348180503GLI2c.4700T>C (p.Met1567Thr)
c.4751T>C (p.Met1584Thr)
c.*3799T>C (n.*3799T>C)
c.*2619T>C (n.*2619T>C)
c.*3850T>C (n.*3850T>C)
c.*2568T>C (n.*2568T>C)
c.4733T>C (p.Met1578Thr)
c.4610T>C (p.Met1537Thr)
c.4556T>C (p.Met1519Thr)
c.4376T>C (p.Met1459Thr)
c.4325T>C (p.Met1442Thr)
c.5003T>C (p.Met1668Thr)
c.4652T>C (p.Met1551Thr)
c.4952T>C (p.Met1651Thr)
 gnomAD v4
2g.120990665T>GCA348180504GLI2c.4700T>G (p.Met1567Arg)
c.4751T>G (p.Met1584Arg)
c.*3799T>G (n.*3799T>G)
c.*2619T>G (n.*2619T>G)
c.*3850T>G (n.*3850T>G)
c.*2568T>G (n.*2568T>G)
c.4733T>G (p.Met1578Arg)
c.4610T>G (p.Met1537Arg)
c.4556T>G (p.Met1519Arg)
c.4376T>G (p.Met1459Arg)
c.4325T>G (p.Met1442Arg)
c.5003T>G (p.Met1668Arg)
c.4652T>G (p.Met1551Arg)
c.4952T>G (p.Met1651Arg)
2g.120990666G>ACA348180505GLI2c.4701G>A (p.Met1567Ile)
c.4752G>A (p.Met1584Ile)
c.*3800G>A (n.*3800G>A)
c.*2620G>A (n.*2620G>A)
c.*3851G>A (n.*3851G>A)
c.*2569G>A (n.*2569G>A)
c.4734G>A (p.Met1578Ile)
c.4611G>A (p.Met1537Ile)
c.4557G>A (p.Met1519Ile)
c.4377G>A (p.Met1459Ile)
c.4326G>A (p.Met1442Ile)
c.5004G>A (p.Met1668Ile)
c.4653G>A (p.Met1551Ile)
c.4953G>A (p.Met1651Ile)
 gnomAD v4 COSMIC
2g.120990666G>CCA348180506GLI2c.4701G>C (p.Met1567Ile)
c.4752G>C (p.Met1584Ile)
c.*3800G>C (n.*3800G>C)
c.*2620G>C (n.*2620G>C)
c.*3851G>C (n.*3851G>C)
c.*2569G>C (n.*2569G>C)
c.4734G>C (p.Met1578Ile)
c.4611G>C (p.Met1537Ile)
c.4557G>C (p.Met1519Ile)
c.4377G>C (p.Met1459Ile)
c.4326G>C (p.Met1442Ile)
c.5004G>C (p.Met1668Ile)
c.4653G>C (p.Met1551Ile)
c.4953G>C (p.Met1651Ile)
2g.120990666G>TCA348180509GLI2c.4701G>T (p.Met1567Ile)
c.4752G>T (p.Met1584Ile)
c.*3800G>T (n.*3800G>T)
c.*2620G>T (n.*2620G>T)
c.*3851G>T (n.*3851G>T)
c.*2569G>T (n.*2569G>T)
c.4734G>T (p.Met1578Ile)
c.4611G>T (p.Met1537Ile)
c.4557G>T (p.Met1519Ile)
c.4377G>T (p.Met1459Ile)
c.4326G>T (p.Met1442Ile)
c.5004G>T (p.Met1668Ile)
c.4653G>T (p.Met1551Ile)
c.4953G>T (p.Met1651Ile)
2g.120990667A>CCA348180514GLI2c.4702A>C (p.Met1568Leu)
c.4753A>C (p.Met1585Leu)
c.*3801A>C (n.*3801A>C)
c.*2621A>C (n.*2621A>C)
c.*3852A>C (n.*3852A>C)
c.*2570A>C (n.*2570A>C)
c.4735A>C (p.Met1579Leu)
c.4612A>C (p.Met1538Leu)
c.4558A>C (p.Met1520Leu)
c.4378A>C (p.Met1460Leu)
c.4327A>C (p.Met1443Leu)
c.5005A>C (p.Met1669Leu)
c.4654A>C (p.Met1552Leu)
c.4954A>C (p.Met1652Leu)
2g.120990667A>GCA348180517GLI2c.4702A>G (p.Met1568Val)
c.4753A>G (p.Met1585Val)
c.*3801A>G (n.*3801A>G)
c.*2621A>G (n.*2621A>G)
c.*3852A>G (n.*3852A>G)
c.*2570A>G (n.*2570A>G)
c.4735A>G (p.Met1579Val)
c.4612A>G (p.Met1538Val)
c.4558A>G (p.Met1520Val)
c.4378A>G (p.Met1460Val)
c.4327A>G (p.Met1443Val)
c.5005A>G (p.Met1669Val)
c.4654A>G (p.Met1552Val)
c.4954A>G (p.Met1652Val)
2g.120990667A>TCA348180515GLI2c.4702A>T (p.Met1568Leu)
c.4753A>T (p.Met1585Leu)
c.*3801A>T (n.*3801A>T)
c.*2621A>T (n.*2621A>T)
c.*3852A>T (n.*3852A>T)
c.*2570A>T (n.*2570A>T)
c.4735A>T (p.Met1579Leu)
c.4612A>T (p.Met1538Leu)
c.4558A>T (p.Met1520Leu)
c.4378A>T (p.Met1460Leu)
c.4327A>T (p.Met1443Leu)
c.5005A>T (p.Met1669Leu)
c.4654A>T (p.Met1552Leu)
c.4954A>T (p.Met1652Leu)
2g.120990668T>ACA348180520GLI2c.4703T>A (p.Met1568Lys)
c.4754T>A (p.Met1585Lys)
c.*3802T>A (n.*3802T>A)
c.*2622T>A (n.*2622T>A)
c.*3853T>A (n.*3853T>A)
c.*2571T>A (n.*2571T>A)
c.4736T>A (p.Met1579Lys)
c.4613T>A (p.Met1538Lys)
c.4559T>A (p.Met1520Lys)
c.4379T>A (p.Met1460Lys)
c.4328T>A (p.Met1443Lys)
c.5006T>A (p.Met1669Lys)
c.4655T>A (p.Met1552Lys)
c.4955T>A (p.Met1652Lys)
 dbSNP gnomAD v2
2g.120990668T>CCA348180522GLI2c.4703T>C (p.Met1568Thr)
c.4754T>C (p.Met1585Thr)
c.*3802T>C (n.*3802T>C)
c.*2622T>C (n.*2622T>C)
c.*3853T>C (n.*3853T>C)
c.*2571T>C (n.*2571T>C)
c.4736T>C (p.Met1579Thr)
c.4613T>C (p.Met1538Thr)
c.4559T>C (p.Met1520Thr)
c.4379T>C (p.Met1460Thr)
c.4328T>C (p.Met1443Thr)
c.5006T>C (p.Met1669Thr)
c.4655T>C (p.Met1552Thr)
c.4955T>C (p.Met1652Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.120990668T>GCA348180521GLI2c.4703T>G (p.Met1568Arg)
c.4754T>G (p.Met1585Arg)
c.*3802T>G (n.*3802T>G)
c.*2622T>G (n.*2622T>G)
c.*3853T>G (n.*3853T>G)
c.*2571T>G (n.*2571T>G)
c.4736T>G (p.Met1579Arg)
c.4613T>G (p.Met1538Arg)
c.4559T>G (p.Met1520Arg)
c.4379T>G (p.Met1460Arg)
c.4328T>G (p.Met1443Arg)
c.5006T>G (p.Met1669Arg)
c.4655T>G (p.Met1552Arg)
c.4955T>G (p.Met1652Arg)
 gnomAD v4
2g.120990668T=CA1283796222GLI2c.4703T= (p.Met1568=)
c.4754T= (p.Met1585=)
c.*3802T= (n.*3802T=)
c.*2622T= (n.*2622T=)
c.*3853T= (n.*3853T=)
c.*2571T= (n.*2571T=)
c.4736T= (p.Met1579=)
c.4613T= (p.Met1538=)
c.4559T= (p.Met1520=)
c.4379T= (p.Met1460=)
c.4328T= (p.Met1443=)
c.5006T= (p.Met1669=)
c.4655T= (p.Met1552=)
c.4955T= (p.Met1652=)
2g.120990669G>ACA348180523GLI2c.4704G>A (p.Met1568Ile)
c.4755G>A (p.Met1585Ile)
c.*3803G>A (n.*3803G>A)
c.*2623G>A (n.*2623G>A)
c.*3854G>A (n.*3854G>A)
c.*2572G>A (n.*2572G>A)
c.4737G>A (p.Met1579Ile)
c.4614G>A (p.Met1538Ile)
c.4560G>A (p.Met1520Ile)
c.4380G>A (p.Met1460Ile)
c.4329G>A (p.Met1443Ile)
c.5007G>A (p.Met1669Ile)
c.4656G>A (p.Met1552Ile)
c.4956G>A (p.Met1652Ile)
2g.120990669G>CCA348180525GLI2c.4704G>C (p.Met1568Ile)
c.4755G>C (p.Met1585Ile)
c.*3803G>C (n.*3803G>C)
c.*2623G>C (n.*2623G>C)
c.*3854G>C (n.*3854G>C)
c.*2572G>C (n.*2572G>C)
c.4737G>C (p.Met1579Ile)
c.4614G>C (p.Met1538Ile)
c.4560G>C (p.Met1520Ile)
c.4380G>C (p.Met1460Ile)
c.4329G>C (p.Met1443Ile)
c.5007G>C (p.Met1669Ile)
c.4656G>C (p.Met1552Ile)
c.4956G>C (p.Met1652Ile)
2g.120990669G>TCA348180527GLI2c.4704G>T (p.Met1568Ile)
c.4755G>T (p.Met1585Ile)
c.*3803G>T (n.*3803G>T)
c.*2623G>T (n.*2623G>T)
c.*3854G>T (n.*3854G>T)
c.*2572G>T (n.*2572G>T)
c.4737G>T (p.Met1579Ile)
c.4614G>T (p.Met1538Ile)
c.4560G>T (p.Met1520Ile)
c.4380G>T (p.Met1460Ile)
c.4329G>T (p.Met1443Ile)
c.5007G>T (p.Met1669Ile)
c.4656G>T (p.Met1552Ile)
c.4956G>T (p.Met1652Ile)
2g.120990670A=CA1283796223GLI2c.4705A= (p.Thr1569=)
c.4756A= (p.Thr1586=)
c.*3804A= (n.*3804A=)
c.*2624A= (n.*2624A=)
c.*3855A= (n.*3855A=)
c.*2573A= (n.*2573A=)
c.4738A= (p.Thr1580=)
c.4615A= (p.Thr1539=)
c.4561A= (p.Thr1521=)
c.4381A= (p.Thr1461=)
c.4330A= (p.Thr1444=)
c.5008A= (p.Thr1670=)
c.4657A= (p.Thr1553=)
c.4957A= (p.Thr1653=)
2g.120990670A>CCA348180530GLI2c.4705A>C (p.Thr1569Pro)
c.4756A>C (p.Thr1586Pro)
c.*3804A>C (n.*3804A>C)
c.*2624A>C (n.*2624A>C)
c.*3855A>C (n.*3855A>C)
c.*2573A>C (n.*2573A>C)
c.4738A>C (p.Thr1580Pro)
c.4615A>C (p.Thr1539Pro)
c.4561A>C (p.Thr1521Pro)
c.4381A>C (p.Thr1461Pro)
c.4330A>C (p.Thr1444Pro)
c.5008A>C (p.Thr1670Pro)
c.4657A>C (p.Thr1553Pro)
c.4957A>C (p.Thr1653Pro)
2g.120990670A>GCA348180531GLI2c.4705A>G (p.Thr1569Ala)
c.4756A>G (p.Thr1586Ala)
c.*3804A>G (n.*3804A>G)
c.*2624A>G (n.*2624A>G)
c.*3855A>G (n.*3855A>G)
c.*2573A>G (n.*2573A>G)
c.4738A>G (p.Thr1580Ala)
c.4615A>G (p.Thr1539Ala)
c.4561A>G (p.Thr1521Ala)
c.4381A>G (p.Thr1461Ala)
c.4330A>G (p.Thr1444Ala)
c.5008A>G (p.Thr1670Ala)
c.4657A>G (p.Thr1553Ala)
c.4957A>G (p.Thr1653Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.120990670A>TCA348180535GLI2c.4705A>T (p.Thr1569Ser)
c.4756A>T (p.Thr1586Ser)
c.*3804A>T (n.*3804A>T)
c.*2624A>T (n.*2624A>T)
c.*3855A>T (n.*3855A>T)
c.*2573A>T (n.*2573A>T)
c.4738A>T (p.Thr1580Ser)
c.4615A>T (p.Thr1539Ser)
c.4561A>T (p.Thr1521Ser)
c.4381A>T (p.Thr1461Ser)
c.4330A>T (p.Thr1444Ser)
c.5008A>T (p.Thr1670Ser)
c.4657A>T (p.Thr1553Ser)
c.4957A>T (p.Thr1653Ser)
2g.120990671C>ACA348180536GLI2c.4706C>A (p.Thr1569Asn)
c.4757C>A (p.Thr1586Asn)
c.*3805C>A (n.*3805C>A)
c.*2625C>A (n.*2625C>A)
c.*3856C>A (n.*3856C>A)
c.*2574C>A (n.*2574C>A)
c.4739C>A (p.Thr1580Asn)
c.4616C>A (p.Thr1539Asn)
c.4562C>A (p.Thr1521Asn)
c.4382C>A (p.Thr1461Asn)
c.4331C>A (p.Thr1444Asn)
c.5009C>A (p.Thr1670Asn)
c.4658C>A (p.Thr1553Asn)
c.4958C>A (p.Thr1653Asn)
2g.120990671C>GCA348180538GLI2c.4706C>G (p.Thr1569Ser)
c.4757C>G (p.Thr1586Ser)
c.*3805C>G (n.*3805C>G)
c.*2625C>G (n.*2625C>G)
c.*3856C>G (n.*3856C>G)
c.*2574C>G (n.*2574C>G)
c.4739C>G (p.Thr1580Ser)
c.4616C>G (p.Thr1539Ser)
c.4562C>G (p.Thr1521Ser)
c.4382C>G (p.Thr1461Ser)
c.4331C>G (p.Thr1444Ser)
c.5009C>G (p.Thr1670Ser)
c.4658C>G (p.Thr1553Ser)
c.4958C>G (p.Thr1653Ser)
2g.120990671C>TCA348180539GLI2c.4706C>T (p.Thr1569Ile)
c.4757C>T (p.Thr1586Ile)
c.*3805C>T (n.*3805C>T)
c.*2625C>T (n.*2625C>T)
c.*3856C>T (n.*3856C>T)
c.*2574C>T (n.*2574C>T)
c.4739C>T (p.Thr1580Ile)
c.4616C>T (p.Thr1539Ile)
c.4562C>T (p.Thr1521Ile)
c.4382C>T (p.Thr1461Ile)
c.4331C>T (p.Thr1444Ile)
c.5009C>T (p.Thr1670Ile)
c.4658C>T (p.Thr1553Ile)
c.4958C>T (p.Thr1653Ile)
 gnomAD v4
2g.120990672C>ACA428559511GLI2c.4707C>A (p.Thr1569=)
c.4758C>A (p.Thr1586=)
c.*3806C>A (n.*3806C>A)
c.*2626C>A (n.*2626C>A)
c.*3857C>A (n.*3857C>A)
c.*2575C>A (n.*2575C>A)
c.4740C>A (p.Thr1580=)
c.4617C>A (p.Thr1539=)
c.4563C>A (p.Thr1521=)
c.4383C>A (p.Thr1461=)
c.4332C>A (p.Thr1444=)
c.5010C>A (p.Thr1670=)
c.4659C>A (p.Thr1553=)
c.4959C>A (p.Thr1653=)
2g.120990672C>GCA428559512GLI2c.4707C>G (p.Thr1569=)
c.4758C>G (p.Thr1586=)
c.*3806C>G (n.*3806C>G)
c.*2626C>G (n.*2626C>G)
c.*3857C>G (n.*3857C>G)
c.*2575C>G (n.*2575C>G)
c.4740C>G (p.Thr1580=)
c.4617C>G (p.Thr1539=)
c.4563C>G (p.Thr1521=)
c.4383C>G (p.Thr1461=)
c.4332C>G (p.Thr1444=)
c.5010C>G (p.Thr1670=)
c.4659C>G (p.Thr1553=)
c.4959C>G (p.Thr1653=)
2g.120990672C>TCA428559513GLI2c.4707C>T (p.Thr1569=)
c.4758C>T (p.Thr1586=)
c.*3806C>T (n.*3806C>T)
c.*2626C>T (n.*2626C>T)
c.*3857C>T (n.*3857C>T)
c.*2575C>T (n.*2575C>T)
c.4740C>T (p.Thr1580=)
c.4617C>T (p.Thr1539=)
c.4563C>T (p.Thr1521=)
c.4383C>T (p.Thr1461=)
c.4332C>T (p.Thr1444=)
c.5010C>T (p.Thr1670=)
c.4659C>T (p.Thr1553=)
c.4959C>T (p.Thr1653=)
 gnomAD v4
2g.120990673T>ACA348180540GLI2c.4708T>A (p.Ter1570Lys)
c.4759T>A (p.Ter1587Lys)
c.*3807T>A (n.*3807T>A)
c.*2627T>A (n.*2627T>A)
c.*3858T>A (n.*3858T>A)
c.*2576T>A (n.*2576T>A)
c.4741T>A (p.Ter1581Lys)
c.4618T>A (p.Ter1540Lys)
c.4564T>A (p.Ter1522Lys)
c.4384T>A (p.Ter1462Lys)
c.4333T>A (p.Ter1445Lys)
c.5011T>A (p.Ter1671Lys)
c.4660T>A (p.Ter1554Lys)
c.4960T>A (p.Ter1654Lys)
2g.120990673T>CCA54386673GLI2c.4708T>C (p.Ter1570Gln)
c.4759T>C (p.Ter1587Gln)
c.*3807T>C (n.*3807T>C)
c.*2627T>C (n.*2627T>C)
c.*3858T>C (n.*3858T>C)
c.*2576T>C (n.*2576T>C)
c.4741T>C (p.Ter1581Gln)
c.4618T>C (p.Ter1540Gln)
c.4564T>C (p.Ter1522Gln)
c.4384T>C (p.Ter1462Gln)
c.4333T>C (p.Ter1445Gln)
c.5011T>C (p.Ter1671Gln)
c.4660T>C (p.Ter1554Gln)
c.4960T>C (p.Ter1654Gln)
 dbSNP gnomAD v3 gnomAD v4
2g.120990673T>GCA348180542GLI2c.4708T>G (p.Ter1570Glu)
c.4759T>G (p.Ter1587Glu)
c.*3807T>G (n.*3807T>G)
c.*2627T>G (n.*2627T>G)
c.*3858T>G (n.*3858T>G)
c.*2576T>G (n.*2576T>G)
c.4741T>G (p.Ter1581Glu)
c.4618T>G (p.Ter1540Glu)
c.4564T>G (p.Ter1522Glu)
c.4384T>G (p.Ter1462Glu)
c.4333T>G (p.Ter1445Glu)
c.5011T>G (p.Ter1671Glu)
c.4660T>G (p.Ter1554Glu)
c.4960T>G (p.Ter1654Glu)
 gnomAD v4
2g.120990673T=CA1283796224GLI2c.4708T= (p.Ter1570=)
c.4759T= (p.Ter1587=)
c.*3807T= (n.*3807T=)
c.*2627T= (n.*2627T=)
c.*3858T= (n.*3858T=)
c.*2576T= (n.*2576T=)
c.4741T= (p.Ter1581=)
c.4618T= (p.Ter1540=)
c.4564T= (p.Ter1522=)
c.4384T= (p.Ter1462=)
c.4333T= (p.Ter1445=)
c.5011T= (p.Ter1671=)
c.4660T= (p.Ter1554=)
c.4960T= (p.Ter1654=)
2g.120990674A>CCA348180549GLI2c.4709A>C (p.Ter1570Ser)
c.4760A>C (p.Ter1587Ser)
c.*3808A>C (n.*3808A>C)
c.*2628A>C (n.*2628A>C)
c.*3859A>C (n.*3859A>C)
c.*2577A>C (n.*2577A>C)
c.4742A>C (p.Ter1581Ser)
c.4619A>C (p.Ter1540Ser)
c.4565A>C (p.Ter1522Ser)
c.4385A>C (p.Ter1462Ser)
c.4334A>C (p.Ter1445Ser)
c.5012A>C (p.Ter1671Ser)
c.4661A>C (p.Ter1554Ser)
c.4961A>C (p.Ter1654Ser)
2g.120990674A>GCA348180544GLI2c.4709A>G (p.Ter1570Trp)
c.4760A>G (p.Ter1587Trp)
c.*3808A>G (n.*3808A>G)
c.*2628A>G (n.*2628A>G)
c.*3859A>G (n.*3859A>G)
c.*2577A>G (n.*2577A>G)
c.4742A>G (p.Ter1581Trp)
c.4619A>G (p.Ter1540Trp)
c.4565A>G (p.Ter1522Trp)
c.4385A>G (p.Ter1462Trp)
c.4334A>G (p.Ter1445Trp)
c.5012A>G (p.Ter1671Trp)
c.4661A>G (p.Ter1554Trp)
c.4961A>G (p.Ter1654Trp)
2g.120990674A>TCA348180546GLI2c.4709A>T (p.Ter1570Leu)
c.4760A>T (p.Ter1587Leu)
c.*3808A>T (n.*3808A>T)
c.*2628A>T (n.*2628A>T)
c.*3859A>T (n.*3859A>T)
c.*2577A>T (n.*2577A>T)
c.4742A>T (p.Ter1581Leu)
c.4619A>T (p.Ter1540Leu)
c.4565A>T (p.Ter1522Leu)
c.4385A>T (p.Ter1462Leu)
c.4334A>T (p.Ter1445Leu)
c.5012A>T (p.Ter1671Leu)
c.4661A>T (p.Ter1554Leu)
c.4961A>T (p.Ter1654Leu)
2g.120990676_120990677delCA2660922247GLI2c.*1_*2del (n.*1_*2del)
c.*3810_*3811del (n.*3810_*3811del)
c.*2630_*2631del (n.*2630_*2631del)
c.*3861_*3862del (n.*3861_*3862del)
c.*2579_*2580del (n.*2579_*2580del)
 gnomAD v4
2g.120990675G>ACA428559514GLI2c.4710G>A (p.Ter1570=)
c.4761G>A (p.Ter1587=)
c.*3809G>A (n.*3809G>A)
c.*2629G>A (n.*2629G>A)
c.*3860G>A (n.*3860G>A)
c.*2578G>A (n.*2578G>A)
c.4743G>A (p.Ter1581=)
c.4620G>A (p.Ter1540=)
c.4566G>A (p.Ter1522=)
c.4386G>A (p.Ter1462=)
c.4335G>A (p.Ter1445=)
c.5013G>A (p.Ter1671=)
c.4662G>A (p.Ter1554=)
c.4962G>A (p.Ter1654=)
2g.120990675G>CCA10581212GLI2c.4710G>C (p.Ter1570Tyr)
c.4761G>C (p.Ter1587Tyr)
c.*3809G>C (n.*3809G>C)
c.*2629G>C (n.*2629G>C)
c.*3860G>C (n.*3860G>C)
c.*2578G>C (n.*2578G>C)
c.4743G>C (p.Ter1581Tyr)
c.4620G>C (p.Ter1540Tyr)
c.4566G>C (p.Ter1522Tyr)
c.4386G>C (p.Ter1462Tyr)
c.4335G>C (p.Ter1445Tyr)
c.5013G>C (p.Ter1671Tyr)
c.4662G>C (p.Ter1554Tyr)
c.4962G>C (p.Ter1654Tyr)
 ClinVar dbSNP
2g.120990675G=CA1283796225GLI2c.4710G= (p.Ter1570=)
c.4761G= (p.Ter1587=)
c.*3809G= (n.*3809G=)
c.*2629G= (n.*2629G=)
c.*3860G= (n.*3860G=)
c.*2578G= (n.*2578G=)
c.4743G= (p.Ter1581=)
c.4620G= (p.Ter1540=)
c.4566G= (p.Ter1522=)
c.4386G= (p.Ter1462=)
c.4335G= (p.Ter1445=)
c.5013G= (p.Ter1671=)
c.4662G= (p.Ter1554=)
c.4962G= (p.Ter1654=)
2g.120990675G>TCA348180552GLI2c.4710G>T (p.Ter1570Tyr)
c.4761G>T (p.Ter1587Tyr)
c.*3809G>T (n.*3809G>T)
c.*2629G>T (n.*2629G>T)
c.*3860G>T (n.*3860G>T)
c.*2578G>T (n.*2578G>T)
c.4743G>T (p.Ter1581Tyr)
c.4620G>T (p.Ter1540Tyr)
c.4566G>T (p.Ter1522Tyr)
c.4386G>T (p.Ter1462Tyr)
c.4335G>T (p.Ter1445Tyr)
c.5013G>T (p.Ter1671Tyr)
c.4662G>T (p.Ter1554Tyr)
c.4962G>T (p.Ter1654Tyr)
2g.120990677G>ACA535600732GLI2c.*2G>A (n.*2G>A)
c.*3811G>A (n.*3811G>A)
c.*2631G>A (n.*2631G>A)
c.*3862G>A (n.*3862G>A)
c.*2580G>A (n.*2580G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.120990677G=CA1283796226GLI2c.*2G= (n.*2G=)
c.*3811G= (n.*3811G=)
c.*2631G= (n.*2631G=)
c.*3862G= (n.*3862G=)
c.*2580G= (n.*2580G=)
2g.120990678G>ACA54386682GLI2c.*3G>A (n.*3G>A)
c.*3812G>A (n.*3812G>A)
c.*2632G>A (n.*2632G>A)
c.*3863G>A (n.*3863G>A)
c.*2581G>A (n.*2581G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.120990678G>CCA2700090050GLI2c.*3G>C (n.*3G>C)
c.*3812G>C (n.*3812G>C)
c.*2632G>C (n.*2632G>C)
c.*3863G>C (n.*3863G>C)
c.*2581G>C (n.*2581G>C)
 dbSNP
2g.120990678G=CA1283796227GLI2c.*3G= (n.*3G=)
c.*3812G= (n.*3812G=)
c.*2632G= (n.*2632G=)
c.*3863G= (n.*3863G=)
c.*2581G= (n.*2581G=)
2g.120990678G>TCA1283796228GLI2c.*3G>T (n.*3G>T)
c.*3812G>T (n.*3812G>T)
c.*2632G>T (n.*2632G>T)
c.*3863G>T (n.*3863G>T)
c.*2581G>T (n.*2581G>T)
 dbSNP gnomAD v4
2g.120990680_120990685delCA2660922248GLI2c.*5_*10del (n.*5_*10del)
c.*3814_*3819del (n.*3814_*3819del)
c.*2634_*2639del (n.*2634_*2639del)
c.*3865_*3870del (n.*3865_*3870del)
c.*2583_*2588del (n.*2583_*2588del)
 gnomAD v4
2g.120990679C>ACA54386728GLI2c.*4C>A (n.*4C>A)
c.*3813C>A (n.*3813C>A)
c.*2633C>A (n.*2633C>A)
c.*3864C>A (n.*3864C>A)
c.*2582C>A (n.*2582C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.120990679C=CA1283796229GLI2c.*4C= (n.*4C=)
c.*3813C= (n.*3813C=)
c.*2633C= (n.*2633C=)
c.*3864C= (n.*3864C=)
c.*2582C= (n.*2582C=)
2g.120990679C>TCA1852693GLI2c.*4C>T (n.*4C>T)
c.*3813C>T (n.*3813C>T)
c.*2633C>T (n.*2633C>T)
c.*3864C>T (n.*3864C>T)
c.*2582C>T (n.*2582C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120990681C=CA1283796230GLI2c.*6C= (n.*6C=)
c.*3815C= (n.*3815C=)
c.*2635C= (n.*2635C=)
c.*3866C= (n.*3866C=)
c.*2584C= (n.*2584C=)
2g.120990681C>GCA1283796231GLI2c.*6C>G (n.*6C>G)
c.*3815C>G (n.*3815C>G)
c.*2635C>G (n.*2635C>G)
c.*3866C>G (n.*3866C>G)
c.*2584C>G (n.*2584C>G)
 dbSNP gnomAD v4
2g.120990681C>TCA1852694GLI2c.*6C>T (n.*6C>T)
c.*3815C>T (n.*3815C>T)
c.*2635C>T (n.*2635C>T)
c.*3866C>T (n.*3866C>T)
c.*2584C>T (n.*2584C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120990682G>ACA1852695GLI2c.*7G>A (n.*7G>A)
c.*3816G>A (n.*3816G>A)
c.*2636G>A (n.*2636G>A)
c.*3867G>A (n.*3867G>A)
c.*2585G>A (n.*2585G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120990682G>CCA1852696GLI2c.*7G>C (n.*7G>C)
c.*3816G>C (n.*3816G>C)
c.*2636G>C (n.*2636G>C)
c.*3867G>C (n.*3867G>C)
c.*2585G>C (n.*2585G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120990682G=CA1283796232GLI2c.*7G= (n.*7G=)
c.*3816G= (n.*3816G=)
c.*2636G= (n.*2636G=)
c.*3867G= (n.*3867G=)
c.*2585G= (n.*2585G=)
2g.120990682G>TCA2660922249GLI2c.*7G>T (n.*7G>T)
c.*3816G>T (n.*3816G>T)
c.*2636G>T (n.*2636G>T)
c.*3867G>T (n.*3867G>T)
c.*2585G>T (n.*2585G>T)
 gnomAD v4
2g.120990686_120990701dupCA2660922250GLI2c.*11_*26dup (n.*11_*26dup)
c.*3820_*3835dup (n.*3820_*3835dup)
c.*2640_*2655dup (n.*2640_*2655dup)
c.*3871_*3886dup (n.*3871_*3886dup)
c.*2589_*2604dup (n.*2589_*2604dup)
 gnomAD v4
2g.120990685C>ACA2660922251GLI2c.*10C>A (n.*10C>A)
c.*3819C>A (n.*3819C>A)
c.*2639C>A (n.*2639C>A)
c.*3870C>A (n.*3870C>A)
c.*2588C>A (n.*2588C>A)
 gnomAD v4
2g.120990685C=CA1283796233GLI2c.*10C= (n.*10C=)
c.*3819C= (n.*3819C=)
c.*2639C= (n.*2639C=)
c.*3870C= (n.*3870C=)
c.*2588C= (n.*2588C=)
2g.120990685C>TCA1852697GLI2c.*10C>T (n.*10C>T)
c.*3819C>T (n.*3819C>T)
c.*2639C>T (n.*2639C>T)
c.*3870C>T (n.*3870C>T)
c.*2588C>T (n.*2588C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120990686G>ACA54386759GLI2c.*11G>A (n.*11G>A)
c.*3820G>A (n.*3820G>A)
c.*2640G>A (n.*2640G>A)
c.*3871G>A (n.*3871G>A)
c.*2589G>A (n.*2589G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.120990686G>CCA2660922252GLI2c.*11G>C (n.*11G>C)
c.*3820G>C (n.*3820G>C)
c.*2640G>C (n.*2640G>C)
c.*3871G>C (n.*3871G>C)
c.*2589G>C (n.*2589G>C)
 gnomAD v4
2g.120990686G=CA1283796234GLI2c.*11G= (n.*11G=)
c.*3820G= (n.*3820G=)
c.*2640G= (n.*2640G=)
c.*3871G= (n.*3871G=)
c.*2589G= (n.*2589G=)
2g.120990686G>TCA2660922253GLI2c.*11G>T (n.*11G>T)
c.*3820G>T (n.*3820G>T)
c.*2640G>T (n.*2640G>T)
c.*3871G>T (n.*3871G>T)
c.*2589G>T (n.*2589G>T)
 gnomAD v4
2g.120990687C>TCA2660922254GLI2c.*12C>T (n.*12C>T)
c.*3821C>T (n.*3821C>T)
c.*2641C>T (n.*2641C>T)
c.*3872C>T (n.*3872C>T)
c.*2590C>T (n.*2590C>T)
 gnomAD v4
2g.120990688C=CA1283796235GLI2c.*13C= (n.*13C=)
c.*3822C= (n.*3822C=)
c.*2642C= (n.*2642C=)
c.*3873C= (n.*3873C=)
c.*2591C= (n.*2591C=)
2g.120990688C>TCA535600733GLI2c.*13C>T (n.*13C>T)
c.*3822C>T (n.*3822C>T)
c.*2642C>T (n.*2642C>T)
c.*3873C>T (n.*3873C>T)
c.*2591C>T (n.*2591C>T)
 dbSNP gnomAD v2
2g.120990689T>CCA2660922255GLI2c.*14T>C (n.*14T>C)
c.*3823T>C (n.*3823T>C)
c.*2643T>C (n.*2643T>C)
c.*3874T>C (n.*3874T>C)
c.*2592T>C (n.*2592T>C)
 gnomAD v4
2g.120990689T>GCA2577084731GLI2c.*14T>G (n.*14T>G)
c.*3823T>G (n.*3823T>G)
c.*2643T>G (n.*2643T>G)
c.*3874T>G (n.*3874T>G)
c.*2592T>G (n.*2592T>G)
2g.120990690G>TCA2660922256GLI2c.*15G>T (n.*15G>T)
c.*3824G>T (n.*3824G>T)
c.*2644G>T (n.*2644G>T)
c.*3875G>T (n.*3875G>T)
c.*2593G>T (n.*2593G>T)
 gnomAD v4
2g.120990691G>ACA756025472GLI2c.*16G>A (n.*16G>A)
c.*3825G>A (n.*3825G>A)
c.*2645G>A (n.*2645G>A)
c.*3876G>A (n.*3876G>A)
c.*2594G>A (n.*2594G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.120990691G>CCA1283796237GLI2c.*16G>C (n.*16G>C)
c.*3825G>C (n.*3825G>C)
c.*2645G>C (n.*2645G>C)
c.*3876G>C (n.*3876G>C)
c.*2594G>C (n.*2594G>C)
 dbSNP gnomAD v4
2g.120990691G=CA1283796236GLI2c.*16G= (n.*16G=)
c.*3825G= (n.*3825G=)
c.*2645G= (n.*2645G=)
c.*3876G= (n.*3876G=)
c.*2594G= (n.*2594G=)
2g.120990691G>TCA2660922257GLI2c.*16G>T (n.*16G>T)
c.*3825G>T (n.*3825G>T)
c.*2645G>T (n.*2645G>T)
c.*3876G>T (n.*3876G>T)
c.*2594G>T (n.*2594G>T)
 gnomAD v4
2g.120990693G>ACA2660922259GLI2c.*18G>A (n.*18G>A)
c.*3827G>A (n.*3827G>A)
c.*2647G>A (n.*2647G>A)
c.*3878G>A (n.*3878G>A)
c.*2596G>A (n.*2596G>A)
 gnomAD v4
2g.120990693G>TCA2660922258GLI2c.*18G>T (n.*18G>T)
c.*3827G>T (n.*3827G>T)
c.*2647G>T (n.*2647G>T)
c.*3878G>T (n.*3878G>T)
c.*2596G>T (n.*2596G>T)
 gnomAD v4
2g.120990694C>ACA2660922260GLI2c.*19C>A (n.*19C>A)
c.*3828C>A (n.*3828C>A)
c.*2648C>A (n.*2648C>A)
c.*3879C>A (n.*3879C>A)
c.*2597C>A (n.*2597C>A)
 gnomAD v4
2g.120990694C=CA1283796238GLI2c.*19C= (n.*19C=)
c.*3828C= (n.*3828C=)
c.*2648C= (n.*2648C=)
c.*3879C= (n.*3879C=)
c.*2597C= (n.*2597C=)
2g.120990694C>TCA535600734GLI2c.*19C>T (n.*19C>T)
c.*3828C>T (n.*3828C>T)
c.*2648C>T (n.*2648C>T)
c.*3879C>T (n.*3879C>T)
c.*2597C>T (n.*2597C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.120990695T>CCA1852698GLI2c.*20T>C (n.*20T>C)
c.*3829T>C (n.*3829T>C)
c.*2649T>C (n.*2649T>C)
c.*3880T>C (n.*3880T>C)
c.*2598T>C (n.*2598T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120990695T=CA1283796239GLI2c.*20T= (n.*20T=)
c.*3829T= (n.*3829T=)
c.*2649T= (n.*2649T=)
c.*3880T= (n.*3880T=)
c.*2598T= (n.*2598T=)
2g.120990696G>TCA2660922261GLI2c.*21G>T (n.*21G>T)
c.*3830G>T (n.*3830G>T)
c.*2650G>T (n.*2650G>T)
c.*3881G>T (n.*3881G>T)
c.*2599G>T (n.*2599G>T)
 gnomAD v4
2g.120990697A>CCA2660922262GLI2c.*22A>C (n.*22A>C)
c.*3831A>C (n.*3831A>C)
c.*2651A>C (n.*2651A>C)
c.*3882A>C (n.*3882A>C)
c.*2600A>C (n.*2600A>C)
 gnomAD v4
2g.120990697A>GCA2577084732GLI2c.*22A>G (n.*22A>G)
c.*3831A>G (n.*3831A>G)
c.*2651A>G (n.*2651A>G)
c.*3882A>G (n.*3882A>G)
c.*2600A>G (n.*2600A>G)
 gnomAD v4
2g.120990698G>ACA2660922263GLI2c.*23G>A (n.*23G>A)
c.*3832G>A (n.*3832G>A)
c.*2652G>A (n.*2652G>A)
c.*3883G>A (n.*3883G>A)
c.*2601G>A (n.*2601G>A)
 gnomAD v4
2g.120990699T>GCA1035703134GLI2c.*24T>G (n.*24T>G)
c.*3833T>G (n.*3833T>G)
c.*2653T>G (n.*2653T>G)
c.*3884T>G (n.*3884T>G)
c.*2602T>G (n.*2602T>G)
 dbSNP gnomAD v3 gnomAD v4
2g.120990699T=CA1283796240GLI2c.*24T= (n.*24T=)
c.*3833T= (n.*3833T=)
c.*2653T= (n.*2653T=)
c.*3884T= (n.*3884T=)
c.*2602T= (n.*2602T=)
2g.120990700G>ACA756025481GLI2c.*25G>A (n.*25G>A)
c.*3834G>A (n.*3834G>A)
c.*2654G>A (n.*2654G>A)
c.*3885G>A (n.*3885G>A)
c.*2603G>A (n.*2603G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.120990700G=CA1283796241GLI2c.*25G= (n.*25G=)
c.*3834G= (n.*3834G=)
c.*2654G= (n.*2654G=)
c.*3885G= (n.*3885G=)
c.*2603G= (n.*2603G=)
2g.120990700G>TCA756025480GLI2c.*25G>T (n.*25G>T)
c.*3834G>T (n.*3834G>T)
c.*2654G>T (n.*2654G>T)
c.*3885G>T (n.*3885G>T)
c.*2603G>T (n.*2603G>T)
 dbSNP gnomAD v3 gnomAD v4
2g.120990700_120990704delinsGCACCCA1283796242GLI2c.*25_*29delinsGCACC (n.*25_*29delinsGCACC)
c.*3834_*3838delinsGCACC (n.*3834_*3838delinsGCACC)
c.*2654_*2658delinsGCACC (n.*2654_*2658delinsGCACC)
c.*3885_*3889delinsGCACC (n.*3885_*3889delinsGCACC)
c.*2603_*2607delinsGCACC (n.*2603_*2607delinsGCACC)
2g.120990702_120990719delCA2660922264GLI2c.*27_*44del (n.*27_*44del)
c.*3836_*3853del (n.*3836_*3853del)
c.*2656_*2673del (n.*2656_*2673del)
c.*3887_*3904del (n.*3887_*3904del)
c.*2605_*2622del (n.*2605_*2622del)
 gnomAD v4
2g.120990701C>ACA2660922265GLI2c.*26C>A (n.*26C>A)
c.*3835C>A (n.*3835C>A)
c.*2655C>A (n.*2655C>A)
c.*3886C>A (n.*3886C>A)
c.*2604C>A (n.*2604C>A)
 gnomAD v4
2g.120990701C>TCA2660922266GLI2c.*26C>T (n.*26C>T)
c.*3835C>T (n.*3835C>T)
c.*2655C>T (n.*2655C>T)
c.*3886C>T (n.*3886C>T)
c.*2604C>T (n.*2604C>T)
 gnomAD v4
2g.120990702_120990705delCA535600735GLI2c.*27_*30del (n.*27_*30del)
c.*3836_*3839del (n.*3836_*3839del)
c.*2656_*2659del (n.*2656_*2659del)
c.*3887_*3890del (n.*3887_*3890del)
c.*2605_*2608del (n.*2605_*2608del)
 dbSNP gnomAD v2 gnomAD v4
2g.120990702A>GCA2660922267GLI2c.*27A>G (n.*27A>G)
c.*3836A>G (n.*3836A>G)
c.*2656A>G (n.*2656A>G)
c.*3887A>G (n.*3887A>G)
c.*2605A>G (n.*2605A>G)
 gnomAD v4
2g.120990703C>ACA2660922268GLI2c.*28C>A (n.*28C>A)
c.*3837C>A (n.*3837C>A)
c.*2657C>A (n.*2657C>A)
c.*3888C>A (n.*3888C>A)
c.*2606C>A (n.*2606C>A)
 gnomAD v4
2g.120990703C=CA1283796243GLI2c.*28C= (n.*28C=)
c.*3837C= (n.*3837C=)
c.*2657C= (n.*2657C=)
c.*3888C= (n.*3888C=)
c.*2606C= (n.*2606C=)
2g.120990703C>TCA535600736GLI2c.*28C>T (n.*28C>T)
c.*3837C>T (n.*3837C>T)
c.*2657C>T (n.*2657C>T)
c.*3888C>T (n.*3888C>T)
c.*2606C>T (n.*2606C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.120990704C>ACA2577084733GLI2c.*29C>A (n.*29C>A)
c.*3838C>A (n.*3838C>A)
c.*2658C>A (n.*2658C>A)
c.*3889C>A (n.*3889C>A)
c.*2607C>A (n.*2607C>A)
 gnomAD v4
2g.120990705C>ACA2577084734GLI2c.*30C>A (n.*30C>A)
c.*3839C>A (n.*3839C>A)
c.*2659C>A (n.*2659C>A)
c.*3890C>A (n.*3890C>A)
c.*2608C>A (n.*2608C>A)
 gnomAD v4
2g.120990705C=CA1283796244GLI2c.*30C= (n.*30C=)
c.*3839C= (n.*3839C=)
c.*2659C= (n.*2659C=)
c.*3890C= (n.*3890C=)
c.*2608C= (n.*2608C=)
2g.120990705C>GCA2548644806GLI2c.*30C>G (n.*30C>G)
c.*3839C>G (n.*3839C>G)
c.*2659C>G (n.*2659C>G)
c.*3890C>G (n.*3890C>G)
c.*2608C>G (n.*2608C>G)
 gnomAD v4
2g.120990705C>TCA1852699GLI2c.*30C>T (n.*30C>T)
c.*3839C>T (n.*3839C>T)
c.*2659C>T (n.*2659C>T)
c.*3890C>T (n.*3890C>T)
c.*2608C>T (n.*2608C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120990706G>ACA1852700GLI2c.*31G>A (n.*31G>A)
c.*3840G>A (n.*3840G>A)
c.*2660G>A (n.*2660G>A)
c.*3891G>A (n.*3891G>A)
c.*2609G>A (n.*2609G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120990706G>CCA2660922269GLI2c.*31G>C (n.*31G>C)
c.*3840G>C (n.*3840G>C)
c.*2660G>C (n.*2660G>C)
c.*3891G>C (n.*3891G>C)
c.*2609G>C (n.*2609G>C)
 gnomAD v4
2g.120990706G=CA1283796245GLI2c.*31G= (n.*31G=)
c.*3840G= (n.*3840G=)
c.*2660G= (n.*2660G=)
c.*3891G= (n.*3891G=)
c.*2609G= (n.*2609G=)
2g.120990706_120990707insACA647118682GLI2c.*31_*32insA (n.*31_*32insA)
c.*3840_*3841insA (n.*3840_*3841insA)
c.*2660_*2661insA (n.*2660_*2661insA)
c.*3891_*3892insA (n.*3891_*3892insA)
c.*2609_*2610insA (n.*2609_*2610insA)
2g.120990707G>ACA2660922270GLI2c.*32G>A (n.*32G>A)
c.*3841G>A (n.*3841G>A)
c.*2661G>A (n.*2661G>A)
c.*3892G>A (n.*3892G>A)
c.*2610G>A (n.*2610G>A)
 gnomAD v4
2g.120990707G>TCA2660922271GLI2c.*32G>T (n.*32G>T)
c.*3841G>T (n.*3841G>T)
c.*2661G>T (n.*2661G>T)
c.*3892G>T (n.*3892G>T)
c.*2610G>T (n.*2610G>T)
 gnomAD v4
2g.120990708A>GCA2660922272GLI2c.*33A>G (n.*33A>G)
c.*3842A>G (n.*3842A>G)
c.*2662A>G (n.*2662A>G)
c.*3893A>G (n.*3893A>G)
c.*2611A>G (n.*2611A>G)
 gnomAD v4
2g.120990708_120990716delinsAGGGGTCATCA1283796246GLI2c.*33_*41delinsAGGGGTCAT (n.*33_*41delinsAGGGGTCAT)
c.*3842_*3850delinsAGGGGTCAT (n.*3842_*3850delinsAGGGGTCAT)
c.*2662_*2670delinsAGGGGTCAT (n.*2662_*2670delinsAGGGGTCAT)
c.*3893_*3901delinsAGGGGTCAT (n.*3893_*3901delinsAGGGGTCAT)
c.*2611_*2619delinsAGGGGTCAT (n.*2611_*2619delinsAGGGGTCAT)
2g.120990709G>ACA54386766GLI2c.*34G>A (n.*34G>A)
c.*3843G>A (n.*3843G>A)
c.*2663G>A (n.*2663G>A)
c.*3894G>A (n.*3894G>A)
c.*2612G>A (n.*2612G>A)
 dbSNP gnomAD v4
2g.120990709G=CA1283796247GLI2c.*34G= (n.*34G=)
c.*3843G= (n.*3843G=)
c.*2663G= (n.*2663G=)
c.*3894G= (n.*3894G=)
c.*2612G= (n.*2612G=)
2g.120990709G>TCA2660922275GLI2c.*34G>T (n.*34G>T)
c.*3843G>T (n.*3843G>T)
c.*2663G>T (n.*2663G>T)
c.*3894G>T (n.*3894G>T)
c.*2612G>T (n.*2612G>T)
 gnomAD v4
2g.120990712dupCA2660922273GLI2c.*37dup (n.*37dup)
c.*3846dup (n.*3846dup)
c.*2666dup (n.*2666dup)
c.*3897dup (n.*3897dup)
c.*2615dup (n.*2615dup)
 gnomAD v4
2g.120990712delCA2660922274GLI2c.*37del (n.*37del)
c.*3846del (n.*3846del)
c.*2666del (n.*2666del)
c.*3897del (n.*3897del)
c.*2615del (n.*2615del)
 gnomAD v4
2g.120990709_120990716delCA1852701GLI2c.*34_*41del (n.*34_*41del)
c.*3843_*3850del (n.*3843_*3850del)
c.*2663_*2670del (n.*2663_*2670del)
c.*3894_*3901del (n.*3894_*3901del)
c.*2612_*2619del (n.*2612_*2619del)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120990710G>TCA2660922276GLI2c.*35G>T (n.*35G>T)
c.*3844G>T (n.*3844G>T)
c.*2664G>T (n.*2664G>T)
c.*3895G>T (n.*3895G>T)
c.*2613G>T (n.*2613G>T)
 gnomAD v4
2g.120990711_120990718dupCA535600737GLI2c.*36_*43dup (n.*36_*43dup)
c.*3845_*3852dup (n.*3845_*3852dup)
c.*2665_*2672dup (n.*2665_*2672dup)
c.*3896_*3903dup (n.*3896_*3903dup)
c.*2614_*2621dup (n.*2614_*2621dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.120990711G>ACA54386767GLI2c.*36G>A (n.*36G>A)
c.*3845G>A (n.*3845G>A)
c.*2665G>A (n.*2665G>A)
c.*3896G>A (n.*3896G>A)
c.*2614G>A (n.*2614G>A)
 dbSNP gnomAD v4
2g.120990711G>CCA1283796248GLI2c.*36G>C (n.*36G>C)
c.*3845G>C (n.*3845G>C)
c.*2665G>C (n.*2665G>C)
c.*3896G>C (n.*3896G>C)
c.*2614G>C (n.*2614G>C)
 dbSNP
2g.120990711G=CA1283796249GLI2c.*36G= (n.*36G=)
c.*3845G= (n.*3845G=)
c.*2665G= (n.*2665G=)
c.*3896G= (n.*3896G=)
c.*2614G= (n.*2614G=)
2g.120990711G>TCA1852702GLI2c.*36G>T (n.*36G>T)
c.*3845G>T (n.*3845G>T)
c.*2665G>T (n.*2665G>T)
c.*3896G>T (n.*3896G>T)
c.*2614G>T (n.*2614G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120990712G>ACA2660922277GLI2c.*37G>A (n.*37G>A)
c.*3846G>A (n.*3846G>A)
c.*2666G>A (n.*2666G>A)
c.*3897G>A (n.*3897G>A)
c.*2615G>A (n.*2615G>A)
 gnomAD v4
2g.120990712G>TCA2660922278GLI2c.*37G>T (n.*37G>T)
c.*3846G>T (n.*3846G>T)
c.*2666G>T (n.*2666G>T)
c.*3897G>T (n.*3897G>T)
c.*2615G>T (n.*2615G>T)
 gnomAD v4

Number of alleles fetched