Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.120990472delCA2577084728GLI2c.4507del (p.Asp1503IlefsTer10)
c.4558del (p.Asp1520IlefsTer10)
c.*3606del (n.*3606del)
c.*2544-118del (n.*2544-118del)
c.*3657del (n.*3657del)
c.*2493-118del (n.*2493-118del)
c.4540del (p.Asp1514IlefsTer10)
c.4417del (p.Asp1473IlefsTer10)
c.4363del (p.Asp1455IlefsTer10)
c.4183del (p.Asp1395IlefsTer10)
c.4132del (p.Asp1378IlefsTer10)
c.4810del (p.Asp1604IlefsTer10)
c.4459del (p.Asp1487IlefsTer10)
c.4759del (p.Asp1587IlefsTer10)
2g.120990472G>ACA201056GLI2c.4507G>A (p.Asp1503Asn)
c.4558G>A (p.Asp1520Asn)
c.*3606G>A (n.*3606G>A)
c.*2544-118G>A (n.*2544-118G>A)
c.*3657G>A (n.*3657G>A)
c.*2493-118G>A (n.*2493-118G>A)
c.4540G>A (p.Asp1514Asn)
c.4417G>A (p.Asp1473Asn)
c.4363G>A (p.Asp1455Asn)
c.4183G>A (p.Asp1395Asn)
c.4132G>A (p.Asp1378Asn)
c.4810G>A (p.Asp1604Asn)
c.4459G>A (p.Asp1487Asn)
c.4759G>A (p.Asp1587Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120990472G>CCA1852651GLI2c.4507G>C (p.Asp1503His)
c.4558G>C (p.Asp1520His)
c.*3606G>C (n.*3606G>C)
c.*2544-118G>C (n.*2544-118G>C)
c.*3657G>C (n.*3657G>C)
c.*2493-118G>C (n.*2493-118G>C)
c.4540G>C (p.Asp1514His)
c.4417G>C (p.Asp1473His)
c.4363G>C (p.Asp1455His)
c.4183G>C (p.Asp1395His)
c.4132G>C (p.Asp1378His)
c.4810G>C (p.Asp1604His)
c.4459G>C (p.Asp1487His)
c.4759G>C (p.Asp1587His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120990472G=CA1283796133GLI2c.4507G= (p.Asp1503=)
c.4558G= (p.Asp1520=)
c.*3606G= (n.*3606G=)
c.*2544-118G= (n.*2544-118G=)
c.*3657G= (n.*3657G=)
c.*2493-118G= (n.*2493-118G=)
c.4540G= (p.Asp1514=)
c.4417G= (p.Asp1473=)
c.4363G= (p.Asp1455=)
c.4183G= (p.Asp1395=)
c.4132G= (p.Asp1378=)
c.4810G= (p.Asp1604=)
c.4459G= (p.Asp1487=)
c.4759G= (p.Asp1587=)
2g.120990472G>TCA348179992GLI2c.4507G>T (p.Asp1503Tyr)
c.4558G>T (p.Asp1520Tyr)
c.*3606G>T (n.*3606G>T)
c.*2544-118G>T (n.*2544-118G>T)
c.*3657G>T (n.*3657G>T)
c.*2493-118G>T (n.*2493-118G>T)
c.4540G>T (p.Asp1514Tyr)
c.4417G>T (p.Asp1473Tyr)
c.4363G>T (p.Asp1455Tyr)
c.4183G>T (p.Asp1395Tyr)
c.4132G>T (p.Asp1378Tyr)
c.4810G>T (p.Asp1604Tyr)
c.4459G>T (p.Asp1487Tyr)
c.4759G>T (p.Asp1587Tyr)
2g.120990473A>CCA348179993GLI2c.4508A>C (p.Asp1503Ala)
c.4559A>C (p.Asp1520Ala)
c.*3607A>C (n.*3607A>C)
c.*2544-117A>C (n.*2544-117A>C)
c.*3658A>C (n.*3658A>C)
c.*2493-117A>C (n.*2493-117A>C)
c.4541A>C (p.Asp1514Ala)
c.4418A>C (p.Asp1473Ala)
c.4364A>C (p.Asp1455Ala)
c.4184A>C (p.Asp1395Ala)
c.4133A>C (p.Asp1378Ala)
c.4811A>C (p.Asp1604Ala)
c.4460A>C (p.Asp1487Ala)
c.4760A>C (p.Asp1587Ala)
2g.120990473A>GCA348179994GLI2c.4508A>G (p.Asp1503Gly)
c.4559A>G (p.Asp1520Gly)
c.*3607A>G (n.*3607A>G)
c.*2544-117A>G (n.*2544-117A>G)
c.*3658A>G (n.*3658A>G)
c.*2493-117A>G (n.*2493-117A>G)
c.4541A>G (p.Asp1514Gly)
c.4418A>G (p.Asp1473Gly)
c.4364A>G (p.Asp1455Gly)
c.4184A>G (p.Asp1395Gly)
c.4133A>G (p.Asp1378Gly)
c.4811A>G (p.Asp1604Gly)
c.4460A>G (p.Asp1487Gly)
c.4760A>G (p.Asp1587Gly)
 gnomAD v4
2g.120990473A>TCA348179995GLI2c.4508A>T (p.Asp1503Val)
c.4559A>T (p.Asp1520Val)
c.*3607A>T (n.*3607A>T)
c.*2544-117A>T (n.*2544-117A>T)
c.*3658A>T (n.*3658A>T)
c.*2493-117A>T (n.*2493-117A>T)
c.4541A>T (p.Asp1514Val)
c.4418A>T (p.Asp1473Val)
c.4364A>T (p.Asp1455Val)
c.4184A>T (p.Asp1395Val)
c.4133A>T (p.Asp1378Val)
c.4811A>T (p.Asp1604Val)
c.4460A>T (p.Asp1487Val)
c.4760A>T (p.Asp1587Val)
2g.120990474T>ACA348179996GLI2c.4509T>A (p.Asp1503Glu)
c.4560T>A (p.Asp1520Glu)
c.*3608T>A (n.*3608T>A)
c.*2544-116T>A (n.*2544-116T>A)
c.*3659T>A (n.*3659T>A)
c.*2493-116T>A (n.*2493-116T>A)
c.4542T>A (p.Asp1514Glu)
c.4419T>A (p.Asp1473Glu)
c.4365T>A (p.Asp1455Glu)
c.4185T>A (p.Asp1395Glu)
c.4134T>A (p.Asp1378Glu)
c.4812T>A (p.Asp1604Glu)
c.4461T>A (p.Asp1487Glu)
c.4761T>A (p.Asp1587Glu)
2g.120990474T>CCA1852653GLI2c.4509T>C (p.Asp1503=)
c.4560T>C (p.Asp1520=)
c.*3608T>C (n.*3608T>C)
c.*2544-116T>C (n.*2544-116T>C)
c.*3659T>C (n.*3659T>C)
c.*2493-116T>C (n.*2493-116T>C)
c.4542T>C (p.Asp1514=)
c.4419T>C (p.Asp1473=)
c.4365T>C (p.Asp1455=)
c.4185T>C (p.Asp1395=)
c.4134T>C (p.Asp1378=)
c.4812T>C (p.Asp1604=)
c.4461T>C (p.Asp1487=)
c.4761T>C (p.Asp1587=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120990474T>GCA1852652GLI2c.4509T>G (p.Asp1503Glu)
c.4560T>G (p.Asp1520Glu)
c.*3608T>G (n.*3608T>G)
c.*2544-116T>G (n.*2544-116T>G)
c.*3659T>G (n.*3659T>G)
c.*2493-116T>G (n.*2493-116T>G)
c.4542T>G (p.Asp1514Glu)
c.4419T>G (p.Asp1473Glu)
c.4365T>G (p.Asp1455Glu)
c.4185T>G (p.Asp1395Glu)
c.4134T>G (p.Asp1378Glu)
c.4812T>G (p.Asp1604Glu)
c.4461T>G (p.Asp1487Glu)
c.4761T>G (p.Asp1587Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120990474T=CA1283796134GLI2c.4509T= (p.Asp1503=)
c.4560T= (p.Asp1520=)
c.*3608T= (n.*3608T=)
c.*2544-116T= (n.*2544-116T=)
c.*3659T= (n.*3659T=)
c.*2493-116T= (n.*2493-116T=)
c.4542T= (p.Asp1514=)
c.4419T= (p.Asp1473=)
c.4365T= (p.Asp1455=)
c.4185T= (p.Asp1395=)
c.4134T= (p.Asp1378=)
c.4812T= (p.Asp1604=)
c.4461T= (p.Asp1487=)
c.4761T= (p.Asp1587=)
2g.120990475C>ACA348179997GLI2c.4510C>A (p.His1504Asn)
c.4561C>A (p.His1521Asn)
c.*3609C>A (n.*3609C>A)
c.*2544-115C>A (n.*2544-115C>A)
c.*3660C>A (n.*3660C>A)
c.*2493-115C>A (n.*2493-115C>A)
c.4543C>A (p.His1515Asn)
c.4420C>A (p.His1474Asn)
c.4366C>A (p.His1456Asn)
c.4186C>A (p.His1396Asn)
c.4135C>A (p.His1379Asn)
c.4813C>A (p.His1605Asn)
c.4462C>A (p.His1488Asn)
c.4762C>A (p.His1588Asn)
2g.120990475C=CA1283796135GLI2c.4510C= (p.His1504=)
c.4561C= (p.His1521=)
c.*3609C= (n.*3609C=)
c.*2544-115C= (n.*2544-115C=)
c.*3660C= (n.*3660C=)
c.*2493-115C= (n.*2493-115C=)
c.4543C= (p.His1515=)
c.4420C= (p.His1474=)
c.4366C= (p.His1456=)
c.4186C= (p.His1396=)
c.4135C= (p.His1379=)
c.4813C= (p.His1605=)
c.4462C= (p.His1488=)
c.4762C= (p.His1588=)
2g.120990475C>GCA1852655GLI2c.4510C>G (p.His1504Asp)
c.4561C>G (p.His1521Asp)
c.*3609C>G (n.*3609C>G)
c.*2544-115C>G (n.*2544-115C>G)
c.*3660C>G (n.*3660C>G)
c.*2493-115C>G (n.*2493-115C>G)
c.4543C>G (p.His1515Asp)
c.4420C>G (p.His1474Asp)
c.4366C>G (p.His1456Asp)
c.4186C>G (p.His1396Asp)
c.4135C>G (p.His1379Asp)
c.4813C>G (p.His1605Asp)
c.4462C>G (p.His1488Asp)
c.4762C>G (p.His1588Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120990475C>TCA1852654GLI2c.4510C>T (p.His1504Tyr)
c.4561C>T (p.His1521Tyr)
c.*3609C>T (n.*3609C>T)
c.*2544-115C>T (n.*2544-115C>T)
c.*3660C>T (n.*3660C>T)
c.*2493-115C>T (n.*2493-115C>T)
c.4543C>T (p.His1515Tyr)
c.4420C>T (p.His1474Tyr)
c.4366C>T (p.His1456Tyr)
c.4186C>T (p.His1396Tyr)
c.4135C>T (p.His1379Tyr)
c.4813C>T (p.His1605Tyr)
c.4462C>T (p.His1488Tyr)
c.4762C>T (p.His1588Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120990476A=CA1283796136GLI2c.4511A= (p.His1504=)
c.4562A= (p.His1521=)
c.*3610A= (n.*3610A=)
c.*2544-114A= (n.*2544-114A=)
c.*3661A= (n.*3661A=)
c.*2493-114A= (n.*2493-114A=)
c.4544A= (p.His1515=)
c.4421A= (p.His1474=)
c.4367A= (p.His1456=)
c.4187A= (p.His1396=)
c.4136A= (p.His1379=)
c.4814A= (p.His1605=)
c.4463A= (p.His1488=)
c.4763A= (p.His1588=)
2g.120990476A>CCA348179998GLI2c.4511A>C (p.His1504Pro)
c.4562A>C (p.His1521Pro)
c.*3610A>C (n.*3610A>C)
c.*2544-114A>C (n.*2544-114A>C)
c.*3661A>C (n.*3661A>C)
c.*2493-114A>C (n.*2493-114A>C)
c.4544A>C (p.His1515Pro)
c.4421A>C (p.His1474Pro)
c.4367A>C (p.His1456Pro)
c.4187A>C (p.His1396Pro)
c.4136A>C (p.His1379Pro)
c.4814A>C (p.His1605Pro)
c.4463A>C (p.His1488Pro)
c.4763A>C (p.His1588Pro)
 dbSNP
2g.120990476A>GCA348180000GLI2c.4511A>G (p.His1504Arg)
c.4562A>G (p.His1521Arg)
c.*3610A>G (n.*3610A>G)
c.*2544-114A>G (n.*2544-114A>G)
c.*3661A>G (n.*3661A>G)
c.*2493-114A>G (n.*2493-114A>G)
c.4544A>G (p.His1515Arg)
c.4421A>G (p.His1474Arg)
c.4367A>G (p.His1456Arg)
c.4187A>G (p.His1396Arg)
c.4136A>G (p.His1379Arg)
c.4814A>G (p.His1605Arg)
c.4463A>G (p.His1488Arg)
c.4763A>G (p.His1588Arg)
2g.120990476A>TCA348179999GLI2c.4511A>T (p.His1504Leu)
c.4562A>T (p.His1521Leu)
c.*3610A>T (n.*3610A>T)
c.*2544-114A>T (n.*2544-114A>T)
c.*3661A>T (n.*3661A>T)
c.*2493-114A>T (n.*2493-114A>T)
c.4544A>T (p.His1515Leu)
c.4421A>T (p.His1474Leu)
c.4367A>T (p.His1456Leu)
c.4187A>T (p.His1396Leu)
c.4136A>T (p.His1379Leu)
c.4814A>T (p.His1605Leu)
c.4463A>T (p.His1488Leu)
c.4763A>T (p.His1588Leu)
2g.120990477C>ACA348180001GLI2c.4512C>A (p.His1504Gln)
c.4563C>A (p.His1521Gln)
c.*3611C>A (n.*3611C>A)
c.*2544-113C>A (n.*2544-113C>A)
c.*3662C>A (n.*3662C>A)
c.*2493-113C>A (n.*2493-113C>A)
c.4545C>A (p.His1515Gln)
c.4422C>A (p.His1474Gln)
c.4368C>A (p.His1456Gln)
c.4188C>A (p.His1396Gln)
c.4137C>A (p.His1379Gln)
c.4815C>A (p.His1605Gln)
c.4464C>A (p.His1488Gln)
c.4764C>A (p.His1588Gln)
2g.120990477C=CA1283796137GLI2c.4512C= (p.His1504=)
c.4563C= (p.His1521=)
c.*3611C= (n.*3611C=)
c.*2544-113C= (n.*2544-113C=)
c.*3662C= (n.*3662C=)
c.*2493-113C= (n.*2493-113C=)
c.4545C= (p.His1515=)
c.4422C= (p.His1474=)
c.4368C= (p.His1456=)
c.4188C= (p.His1396=)
c.4137C= (p.His1379=)
c.4815C= (p.His1605=)
c.4464C= (p.His1488=)
c.4764C= (p.His1588=)
2g.120990477C>GCA1852656GLI2c.4512C>G (p.His1504Gln)
c.4563C>G (p.His1521Gln)
c.*3611C>G (n.*3611C>G)
c.*2544-113C>G (n.*2544-113C>G)
c.*3662C>G (n.*3662C>G)
c.*2493-113C>G (n.*2493-113C>G)
c.4545C>G (p.His1515Gln)
c.4422C>G (p.His1474Gln)
c.4368C>G (p.His1456Gln)
c.4188C>G (p.His1396Gln)
c.4137C>G (p.His1379Gln)
c.4815C>G (p.His1605Gln)
c.4464C>G (p.His1488Gln)
c.4764C>G (p.His1588Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120990477C>TCA428750689GLI2c.4512C>T (p.His1504=)
c.4563C>T (p.His1521=)
c.*3611C>T (n.*3611C>T)
c.*2544-113C>T (n.*2544-113C>T)
c.*3662C>T (n.*3662C>T)
c.*2493-113C>T (n.*2493-113C>T)
c.4545C>T (p.His1515=)
c.4422C>T (p.His1474=)
c.4368C>T (p.His1456=)
c.4188C>T (p.His1396=)
c.4137C>T (p.His1379=)
c.4815C>T (p.His1605=)
c.4464C>T (p.His1488=)
c.4764C>T (p.His1588=)
 gnomAD v4
2g.120990478T>ACA348180002GLI2c.4513T>A (p.Ser1505Thr)
c.4564T>A (p.Ser1522Thr)
c.*3612T>A (n.*3612T>A)
c.*2544-112T>A (n.*2544-112T>A)
c.*3663T>A (n.*3663T>A)
c.*2493-112T>A (n.*2493-112T>A)
c.4546T>A (p.Ser1516Thr)
c.4423T>A (p.Ser1475Thr)
c.4369T>A (p.Ser1457Thr)
c.4189T>A (p.Ser1397Thr)
c.4138T>A (p.Ser1380Thr)
c.4816T>A (p.Ser1606Thr)
c.4465T>A (p.Ser1489Thr)
c.4765T>A (p.Ser1589Thr)
2g.120990478T>CCA348180004GLI2c.4513T>C (p.Ser1505Pro)
c.4564T>C (p.Ser1522Pro)
c.*3612T>C (n.*3612T>C)
c.*2544-112T>C (n.*2544-112T>C)
c.*3663T>C (n.*3663T>C)
c.*2493-112T>C (n.*2493-112T>C)
c.4546T>C (p.Ser1516Pro)
c.4423T>C (p.Ser1475Pro)
c.4369T>C (p.Ser1457Pro)
c.4189T>C (p.Ser1397Pro)
c.4138T>C (p.Ser1380Pro)
c.4816T>C (p.Ser1606Pro)
c.4465T>C (p.Ser1489Pro)
c.4765T>C (p.Ser1589Pro)
2g.120990478T>GCA348180003GLI2c.4513T>G (p.Ser1505Ala)
c.4564T>G (p.Ser1522Ala)
c.*3612T>G (n.*3612T>G)
c.*2544-112T>G (n.*2544-112T>G)
c.*3663T>G (n.*3663T>G)
c.*2493-112T>G (n.*2493-112T>G)
c.4546T>G (p.Ser1516Ala)
c.4423T>G (p.Ser1475Ala)
c.4369T>G (p.Ser1457Ala)
c.4189T>G (p.Ser1397Ala)
c.4138T>G (p.Ser1380Ala)
c.4816T>G (p.Ser1606Ala)
c.4465T>G (p.Ser1489Ala)
c.4765T>G (p.Ser1589Ala)
2g.120990479C>ACA348180005GLI2c.4514C>A (p.Ser1505Ter)
c.4565C>A (p.Ser1522Ter)
c.*3613C>A (n.*3613C>A)
c.*2544-111C>A (n.*2544-111C>A)
c.*3664C>A (n.*3664C>A)
c.*2493-111C>A (n.*2493-111C>A)
c.4547C>A (p.Ser1516Ter)
c.4424C>A (p.Ser1475Ter)
c.4370C>A (p.Ser1457Ter)
c.4190C>A (p.Ser1397Ter)
c.4139C>A (p.Ser1380Ter)
c.4817C>A (p.Ser1606Ter)
c.4466C>A (p.Ser1489Ter)
c.4766C>A (p.Ser1589Ter)
2g.120990479C=CA1283796138GLI2c.4514C= (p.Ser1505=)
c.4565C= (p.Ser1522=)
c.*3613C= (n.*3613C=)
c.*2544-111C= (n.*2544-111C=)
c.*3664C= (n.*3664C=)
c.*2493-111C= (n.*2493-111C=)
c.4547C= (p.Ser1516=)
c.4424C= (p.Ser1475=)
c.4370C= (p.Ser1457=)
c.4190C= (p.Ser1397=)
c.4139C= (p.Ser1380=)
c.4817C= (p.Ser1606=)
c.4466C= (p.Ser1489=)
c.4766C= (p.Ser1589=)
2g.120990479C>GCA348180006GLI2c.4514C>G (p.Ser1505Trp)
c.4565C>G (p.Ser1522Trp)
c.*3613C>G (n.*3613C>G)
c.*2544-111C>G (n.*2544-111C>G)
c.*3664C>G (n.*3664C>G)
c.*2493-111C>G (n.*2493-111C>G)
c.4547C>G (p.Ser1516Trp)
c.4424C>G (p.Ser1475Trp)
c.4370C>G (p.Ser1457Trp)
c.4190C>G (p.Ser1397Trp)
c.4139C>G (p.Ser1380Trp)
c.4817C>G (p.Ser1606Trp)
c.4466C>G (p.Ser1489Trp)
c.4766C>G (p.Ser1589Trp)
 dbSNP gnomAD v4
2g.120990479C>TCA1852657GLI2c.4514C>T (p.Ser1505Leu)
c.4565C>T (p.Ser1522Leu)
c.*3613C>T (n.*3613C>T)
c.*2544-111C>T (n.*2544-111C>T)
c.*3664C>T (n.*3664C>T)
c.*2493-111C>T (n.*2493-111C>T)
c.4547C>T (p.Ser1516Leu)
c.4424C>T (p.Ser1475Leu)
c.4370C>T (p.Ser1457Leu)
c.4190C>T (p.Ser1397Leu)
c.4139C>T (p.Ser1380Leu)
c.4817C>T (p.Ser1606Leu)
c.4466C>T (p.Ser1489Leu)
c.4766C>T (p.Ser1589Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120990480G>ACA1852658GLI2c.4515G>A (p.Ser1505=)
c.4566G>A (p.Ser1522=)
c.*3614G>A (n.*3614G>A)
c.*2544-110G>A (n.*2544-110G>A)
c.*3665G>A (n.*3665G>A)
c.*2493-110G>A (n.*2493-110G>A)
c.4548G>A (p.Ser1516=)
c.4425G>A (p.Ser1475=)
c.4371G>A (p.Ser1457=)
c.4191G>A (p.Ser1397=)
c.4140G>A (p.Ser1380=)
c.4818G>A (p.Ser1606=)
c.4467G>A (p.Ser1489=)
c.4767G>A (p.Ser1589=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120990480G>CCA428750691GLI2c.4515G>C (p.Ser1505=)
c.4566G>C (p.Ser1522=)
c.*3614G>C (n.*3614G>C)
c.*2544-110G>C (n.*2544-110G>C)
c.*3665G>C (n.*3665G>C)
c.*2493-110G>C (n.*2493-110G>C)
c.4548G>C (p.Ser1516=)
c.4425G>C (p.Ser1475=)
c.4371G>C (p.Ser1457=)
c.4191G>C (p.Ser1397=)
c.4140G>C (p.Ser1380=)
c.4818G>C (p.Ser1606=)
c.4467G>C (p.Ser1489=)
c.4767G>C (p.Ser1589=)
 gnomAD v4
2g.120990480G=CA1283796139GLI2c.4515G= (p.Ser1505=)
c.4566G= (p.Ser1522=)
c.*3614G= (n.*3614G=)
c.*2544-110G= (n.*2544-110G=)
c.*3665G= (n.*3665G=)
c.*2493-110G= (n.*2493-110G=)
c.4548G= (p.Ser1516=)
c.4425G= (p.Ser1475=)
c.4371G= (p.Ser1457=)
c.4191G= (p.Ser1397=)
c.4140G= (p.Ser1380=)
c.4818G= (p.Ser1606=)
c.4467G= (p.Ser1489=)
c.4767G= (p.Ser1589=)
2g.120990480G>TCA428750690GLI2c.4515G>T (p.Ser1505=)
c.4566G>T (p.Ser1522=)
c.*3614G>T (n.*3614G>T)
c.*2544-110G>T (n.*2544-110G>T)
c.*3665G>T (n.*3665G>T)
c.*2493-110G>T (n.*2493-110G>T)
c.4548G>T (p.Ser1516=)
c.4425G>T (p.Ser1475=)
c.4371G>T (p.Ser1457=)
c.4191G>T (p.Ser1397=)
c.4140G>T (p.Ser1380=)
c.4818G>T (p.Ser1606=)
c.4467G>T (p.Ser1489=)
c.4767G>T (p.Ser1589=)
 gnomAD v4
2g.120990481A>CCA348180007GLI2c.4516A>C (p.Ser1506Arg)
c.4567A>C (p.Ser1523Arg)
c.*3615A>C (n.*3615A>C)
c.*2544-109A>C (n.*2544-109A>C)
c.*3666A>C (n.*3666A>C)
c.*2493-109A>C (n.*2493-109A>C)
c.4549A>C (p.Ser1517Arg)
c.4426A>C (p.Ser1476Arg)
c.4372A>C (p.Ser1458Arg)
c.4192A>C (p.Ser1398Arg)
c.4141A>C (p.Ser1381Arg)
c.4819A>C (p.Ser1607Arg)
c.4468A>C (p.Ser1490Arg)
c.4768A>C (p.Ser1590Arg)
2g.120990481A>GCA348180008GLI2c.4516A>G (p.Ser1506Gly)
c.4567A>G (p.Ser1523Gly)
c.*3615A>G (n.*3615A>G)
c.*2544-109A>G (n.*2544-109A>G)
c.*3666A>G (n.*3666A>G)
c.*2493-109A>G (n.*2493-109A>G)
c.4549A>G (p.Ser1517Gly)
c.4426A>G (p.Ser1476Gly)
c.4372A>G (p.Ser1458Gly)
c.4192A>G (p.Ser1398Gly)
c.4141A>G (p.Ser1381Gly)
c.4819A>G (p.Ser1607Gly)
c.4468A>G (p.Ser1490Gly)
c.4768A>G (p.Ser1590Gly)
 gnomAD v4
2g.120990481A>TCA348180009GLI2c.4516A>T (p.Ser1506Cys)
c.4567A>T (p.Ser1523Cys)
c.*3615A>T (n.*3615A>T)
c.*2544-109A>T (n.*2544-109A>T)
c.*3666A>T (n.*3666A>T)
c.*2493-109A>T (n.*2493-109A>T)
c.4549A>T (p.Ser1517Cys)
c.4426A>T (p.Ser1476Cys)
c.4372A>T (p.Ser1458Cys)
c.4192A>T (p.Ser1398Cys)
c.4141A>T (p.Ser1381Cys)
c.4819A>T (p.Ser1607Cys)
c.4468A>T (p.Ser1490Cys)
c.4768A>T (p.Ser1590Cys)
2g.120990482G>ACA348180010GLI2c.4517G>A (p.Ser1506Asn)
c.4568G>A (p.Ser1523Asn)
c.*3616G>A (n.*3616G>A)
c.*2544-108G>A (n.*2544-108G>A)
c.*3667G>A (n.*3667G>A)
c.*2493-108G>A (n.*2493-108G>A)
c.4550G>A (p.Ser1517Asn)
c.4427G>A (p.Ser1476Asn)
c.4373G>A (p.Ser1458Asn)
c.4193G>A (p.Ser1398Asn)
c.4142G>A (p.Ser1381Asn)
c.4820G>A (p.Ser1607Asn)
c.4469G>A (p.Ser1490Asn)
c.4769G>A (p.Ser1590Asn)
 gnomAD v4
2g.120990482G>CCA348180011GLI2c.4517G>C (p.Ser1506Thr)
c.4568G>C (p.Ser1523Thr)
c.*3616G>C (n.*3616G>C)
c.*2544-108G>C (n.*2544-108G>C)
c.*3667G>C (n.*3667G>C)
c.*2493-108G>C (n.*2493-108G>C)
c.4550G>C (p.Ser1517Thr)
c.4427G>C (p.Ser1476Thr)
c.4373G>C (p.Ser1458Thr)
c.4193G>C (p.Ser1398Thr)
c.4142G>C (p.Ser1381Thr)
c.4820G>C (p.Ser1607Thr)
c.4469G>C (p.Ser1490Thr)
c.4769G>C (p.Ser1590Thr)
2g.120990482G>TCA348180012GLI2c.4517G>T (p.Ser1506Ile)
c.4568G>T (p.Ser1523Ile)
c.*3616G>T (n.*3616G>T)
c.*2544-108G>T (n.*2544-108G>T)
c.*3667G>T (n.*3667G>T)
c.*2493-108G>T (n.*2493-108G>T)
c.4550G>T (p.Ser1517Ile)
c.4427G>T (p.Ser1476Ile)
c.4373G>T (p.Ser1458Ile)
c.4193G>T (p.Ser1398Ile)
c.4142G>T (p.Ser1381Ile)
c.4820G>T (p.Ser1607Ile)
c.4469G>T (p.Ser1490Ile)
c.4769G>T (p.Ser1590Ile)
2g.120990483T>ACA348180013GLI2c.4518T>A (p.Ser1506Arg)
c.4569T>A (p.Ser1523Arg)
c.*3617T>A (n.*3617T>A)
c.*2544-107T>A (n.*2544-107T>A)
c.*3668T>A (n.*3668T>A)
c.*2493-107T>A (n.*2493-107T>A)
c.4551T>A (p.Ser1517Arg)
c.4428T>A (p.Ser1476Arg)
c.4374T>A (p.Ser1458Arg)
c.4194T>A (p.Ser1398Arg)
c.4143T>A (p.Ser1381Arg)
c.4821T>A (p.Ser1607Arg)
c.4470T>A (p.Ser1490Arg)
c.4770T>A (p.Ser1590Arg)
2g.120990483T>CCA428750692GLI2c.4518T>C (p.Ser1506=)
c.4569T>C (p.Ser1523=)
c.*3617T>C (n.*3617T>C)
c.*2544-107T>C (n.*2544-107T>C)
c.*3668T>C (n.*3668T>C)
c.*2493-107T>C (n.*2493-107T>C)
c.4551T>C (p.Ser1517=)
c.4428T>C (p.Ser1476=)
c.4374T>C (p.Ser1458=)
c.4194T>C (p.Ser1398=)
c.4143T>C (p.Ser1381=)
c.4821T>C (p.Ser1607=)
c.4470T>C (p.Ser1490=)
c.4770T>C (p.Ser1590=)
2g.120990483T>GCA348180014GLI2c.4518T>G (p.Ser1506Arg)
c.4569T>G (p.Ser1523Arg)
c.*3617T>G (n.*3617T>G)
c.*2544-107T>G (n.*2544-107T>G)
c.*3668T>G (n.*3668T>G)
c.*2493-107T>G (n.*2493-107T>G)
c.4551T>G (p.Ser1517Arg)
c.4428T>G (p.Ser1476Arg)
c.4374T>G (p.Ser1458Arg)
c.4194T>G (p.Ser1398Arg)
c.4143T>G (p.Ser1381Arg)
c.4821T>G (p.Ser1607Arg)
c.4470T>G (p.Ser1490Arg)
c.4770T>G (p.Ser1590Arg)
2g.120990484T>ACA348180015GLI2c.4519T>A (p.Leu1507Met)
c.4570T>A (p.Leu1524Met)
c.*3618T>A (n.*3618T>A)
c.*2544-106T>A (n.*2544-106T>A)
c.*3669T>A (n.*3669T>A)
c.*2493-106T>A (n.*2493-106T>A)
c.4552T>A (p.Leu1518Met)
c.4429T>A (p.Leu1477Met)
c.4375T>A (p.Leu1459Met)
c.4195T>A (p.Leu1399Met)
c.4144T>A (p.Leu1382Met)
c.4822T>A (p.Leu1608Met)
c.4471T>A (p.Leu1491Met)
c.4771T>A (p.Leu1591Met)
2g.120990484T>CCA428750693GLI2c.4519T>C (p.Leu1507=)
c.4570T>C (p.Leu1524=)
c.*3618T>C (n.*3618T>C)
c.*2544-106T>C (n.*2544-106T>C)
c.*3669T>C (n.*3669T>C)
c.*2493-106T>C (n.*2493-106T>C)
c.4552T>C (p.Leu1518=)
c.4429T>C (p.Leu1477=)
c.4375T>C (p.Leu1459=)
c.4195T>C (p.Leu1399=)
c.4144T>C (p.Leu1382=)
c.4822T>C (p.Leu1608=)
c.4471T>C (p.Leu1491=)
c.4771T>C (p.Leu1591=)
2g.120990484T>GCA348180016GLI2c.4519T>G (p.Leu1507Val)
c.4570T>G (p.Leu1524Val)
c.*3618T>G (n.*3618T>G)
c.*2544-106T>G (n.*2544-106T>G)
c.*3669T>G (n.*3669T>G)
c.*2493-106T>G (n.*2493-106T>G)
c.4552T>G (p.Leu1518Val)
c.4429T>G (p.Leu1477Val)
c.4375T>G (p.Leu1459Val)
c.4195T>G (p.Leu1399Val)
c.4144T>G (p.Leu1382Val)
c.4822T>G (p.Leu1608Val)
c.4471T>G (p.Leu1491Val)
c.4771T>G (p.Leu1591Val)
2g.120990485T>ACA348180017GLI2c.4520T>A (p.Leu1507Ter)
c.4571T>A (p.Leu1524Ter)
c.*3619T>A (n.*3619T>A)
c.*2544-105T>A (n.*2544-105T>A)
c.*3670T>A (n.*3670T>A)
c.*2493-105T>A (n.*2493-105T>A)
c.4553T>A (p.Leu1518Ter)
c.4430T>A (p.Leu1477Ter)
c.4376T>A (p.Leu1459Ter)
c.4196T>A (p.Leu1399Ter)
c.4145T>A (p.Leu1382Ter)
c.4823T>A (p.Leu1608Ter)
c.4472T>A (p.Leu1491Ter)
c.4772T>A (p.Leu1591Ter)
2g.120990485T>CCA348180018GLI2c.4520T>C (p.Leu1507Ser)
c.4571T>C (p.Leu1524Ser)
c.*3619T>C (n.*3619T>C)
c.*2544-105T>C (n.*2544-105T>C)
c.*3670T>C (n.*3670T>C)
c.*2493-105T>C (n.*2493-105T>C)
c.4553T>C (p.Leu1518Ser)
c.4430T>C (p.Leu1477Ser)
c.4376T>C (p.Leu1459Ser)
c.4196T>C (p.Leu1399Ser)
c.4145T>C (p.Leu1382Ser)
c.4823T>C (p.Leu1608Ser)
c.4472T>C (p.Leu1491Ser)
c.4772T>C (p.Leu1591Ser)
2g.120990485T>GCA348180019GLI2c.4520T>G (p.Leu1507Trp)
c.4571T>G (p.Leu1524Trp)
c.*3619T>G (n.*3619T>G)
c.*2544-105T>G (n.*2544-105T>G)
c.*3670T>G (n.*3670T>G)
c.*2493-105T>G (n.*2493-105T>G)
c.4553T>G (p.Leu1518Trp)
c.4430T>G (p.Leu1477Trp)
c.4376T>G (p.Leu1459Trp)
c.4196T>G (p.Leu1399Trp)
c.4145T>G (p.Leu1382Trp)
c.4823T>G (p.Leu1608Trp)
c.4472T>G (p.Leu1491Trp)
c.4772T>G (p.Leu1591Trp)
2g.120990486G>ACA428750694GLI2c.4521G>A (p.Leu1507=)
c.4572G>A (p.Leu1524=)
c.*3620G>A (n.*3620G>A)
c.*2544-104G>A (n.*2544-104G>A)
c.*3671G>A (n.*3671G>A)
c.*2493-104G>A (n.*2493-104G>A)
c.4554G>A (p.Leu1518=)
c.4431G>A (p.Leu1477=)
c.4377G>A (p.Leu1459=)
c.4197G>A (p.Leu1399=)
c.4146G>A (p.Leu1382=)
c.4824G>A (p.Leu1608=)
c.4473G>A (p.Leu1491=)
c.4773G>A (p.Leu1591=)
 gnomAD v4
2g.120990486G>CCA348180020GLI2c.4521G>C (p.Leu1507Phe)
c.4572G>C (p.Leu1524Phe)
c.*3620G>C (n.*3620G>C)
c.*2544-104G>C (n.*2544-104G>C)
c.*3671G>C (n.*3671G>C)
c.*2493-104G>C (n.*2493-104G>C)
c.4554G>C (p.Leu1518Phe)
c.4431G>C (p.Leu1477Phe)
c.4377G>C (p.Leu1459Phe)
c.4197G>C (p.Leu1399Phe)
c.4146G>C (p.Leu1382Phe)
c.4824G>C (p.Leu1608Phe)
c.4473G>C (p.Leu1491Phe)
c.4773G>C (p.Leu1591Phe)
 gnomAD v4
2g.120990486G>TCA348180021GLI2c.4521G>T (p.Leu1507Phe)
c.4572G>T (p.Leu1524Phe)
c.*3620G>T (n.*3620G>T)
c.*2544-104G>T (n.*2544-104G>T)
c.*3671G>T (n.*3671G>T)
c.*2493-104G>T (n.*2493-104G>T)
c.4554G>T (p.Leu1518Phe)
c.4431G>T (p.Leu1477Phe)
c.4377G>T (p.Leu1459Phe)
c.4197G>T (p.Leu1399Phe)
c.4146G>T (p.Leu1382Phe)
c.4824G>T (p.Leu1608Phe)
c.4473G>T (p.Leu1491Phe)
c.4773G>T (p.Leu1591Phe)
2g.120990487T>ACA348180022GLI2c.4522T>A (p.Phe1508Ile)
c.4573T>A (p.Phe1525Ile)
c.*3621T>A (n.*3621T>A)
c.*2544-103T>A (n.*2544-103T>A)
c.*3672T>A (n.*3672T>A)
c.*2493-103T>A (n.*2493-103T>A)
c.4555T>A (p.Phe1519Ile)
c.4432T>A (p.Phe1478Ile)
c.4378T>A (p.Phe1460Ile)
c.4198T>A (p.Phe1400Ile)
c.4147T>A (p.Phe1383Ile)
c.4825T>A (p.Phe1609Ile)
c.4474T>A (p.Phe1492Ile)
c.4774T>A (p.Phe1592Ile)
2g.120990487T>CCA348180023GLI2c.4522T>C (p.Phe1508Leu)
c.4573T>C (p.Phe1525Leu)
c.*3621T>C (n.*3621T>C)
c.*2544-103T>C (n.*2544-103T>C)
c.*3672T>C (n.*3672T>C)
c.*2493-103T>C (n.*2493-103T>C)
c.4555T>C (p.Phe1519Leu)
c.4432T>C (p.Phe1478Leu)
c.4378T>C (p.Phe1460Leu)
c.4198T>C (p.Phe1400Leu)
c.4147T>C (p.Phe1383Leu)
c.4825T>C (p.Phe1609Leu)
c.4474T>C (p.Phe1492Leu)
c.4774T>C (p.Phe1592Leu)
 dbSNP
2g.120990487T>GCA348180024GLI2c.4522T>G (p.Phe1508Val)
c.4573T>G (p.Phe1525Val)
c.*3621T>G (n.*3621T>G)
c.*2544-103T>G (n.*2544-103T>G)
c.*3672T>G (n.*3672T>G)
c.*2493-103T>G (n.*2493-103T>G)
c.4555T>G (p.Phe1519Val)
c.4432T>G (p.Phe1478Val)
c.4378T>G (p.Phe1460Val)
c.4198T>G (p.Phe1400Val)
c.4147T>G (p.Phe1383Val)
c.4825T>G (p.Phe1609Val)
c.4474T>G (p.Phe1492Val)
c.4774T>G (p.Phe1592Val)
2g.120990487T=CA1283796140GLI2c.4522T= (p.Phe1508=)
c.4573T= (p.Phe1525=)
c.*3621T= (n.*3621T=)
c.*2544-103T= (n.*2544-103T=)
c.*3672T= (n.*3672T=)
c.*2493-103T= (n.*2493-103T=)
c.4555T= (p.Phe1519=)
c.4432T= (p.Phe1478=)
c.4378T= (p.Phe1460=)
c.4198T= (p.Phe1400=)
c.4147T= (p.Phe1383=)
c.4825T= (p.Phe1609=)
c.4474T= (p.Phe1492=)
c.4774T= (p.Phe1592=)
2g.120990488T>ACA348180025GLI2c.4523T>A (p.Phe1508Tyr)
c.4574T>A (p.Phe1525Tyr)
c.*3622T>A (n.*3622T>A)
c.*2544-102T>A (n.*2544-102T>A)
c.*3673T>A (n.*3673T>A)
c.*2493-102T>A (n.*2493-102T>A)
c.4556T>A (p.Phe1519Tyr)
c.4433T>A (p.Phe1478Tyr)
c.4379T>A (p.Phe1460Tyr)
c.4199T>A (p.Phe1400Tyr)
c.4148T>A (p.Phe1383Tyr)
c.4826T>A (p.Phe1609Tyr)
c.4475T>A (p.Phe1492Tyr)
c.4775T>A (p.Phe1592Tyr)
2g.120990488T>CCA348180026GLI2c.4523T>C (p.Phe1508Ser)
c.4574T>C (p.Phe1525Ser)
c.*3622T>C (n.*3622T>C)
c.*2544-102T>C (n.*2544-102T>C)
c.*3673T>C (n.*3673T>C)
c.*2493-102T>C (n.*2493-102T>C)
c.4556T>C (p.Phe1519Ser)
c.4433T>C (p.Phe1478Ser)
c.4379T>C (p.Phe1460Ser)
c.4199T>C (p.Phe1400Ser)
c.4148T>C (p.Phe1383Ser)
c.4826T>C (p.Phe1609Ser)
c.4475T>C (p.Phe1492Ser)
c.4775T>C (p.Phe1592Ser)
2g.120990488T>GCA348180027GLI2c.4523T>G (p.Phe1508Cys)
c.4574T>G (p.Phe1525Cys)
c.*3622T>G (n.*3622T>G)
c.*2544-102T>G (n.*2544-102T>G)
c.*3673T>G (n.*3673T>G)
c.*2493-102T>G (n.*2493-102T>G)
c.4556T>G (p.Phe1519Cys)
c.4433T>G (p.Phe1478Cys)
c.4379T>G (p.Phe1460Cys)
c.4199T>G (p.Phe1400Cys)
c.4148T>G (p.Phe1383Cys)
c.4826T>G (p.Phe1609Cys)
c.4475T>G (p.Phe1492Cys)
c.4775T>G (p.Phe1592Cys)
2g.120990489C>ACA348180028GLI2c.4524C>A (p.Phe1508Leu)
c.4575C>A (p.Phe1525Leu)
c.*3623C>A (n.*3623C>A)
c.*2544-101C>A (n.*2544-101C>A)
c.*3674C>A (n.*3674C>A)
c.*2493-101C>A (n.*2493-101C>A)
c.4557C>A (p.Phe1519Leu)
c.4434C>A (p.Phe1478Leu)
c.4380C>A (p.Phe1460Leu)
c.4200C>A (p.Phe1400Leu)
c.4149C>A (p.Phe1383Leu)
c.4827C>A (p.Phe1609Leu)
c.4476C>A (p.Phe1492Leu)
c.4776C>A (p.Phe1592Leu)
2g.120990489C=CA1283796141GLI2c.4524C= (p.Phe1508=)
c.4575C= (p.Phe1525=)
c.*3623C= (n.*3623C=)
c.*2544-101C= (n.*2544-101C=)
c.*3674C= (n.*3674C=)
c.*2493-101C= (n.*2493-101C=)
c.4557C= (p.Phe1519=)
c.4434C= (p.Phe1478=)
c.4380C= (p.Phe1460=)
c.4200C= (p.Phe1400=)
c.4149C= (p.Phe1383=)
c.4827C= (p.Phe1609=)
c.4476C= (p.Phe1492=)
c.4776C= (p.Phe1592=)
2g.120990489C>GCA348180029GLI2c.4524C>G (p.Phe1508Leu)
c.4575C>G (p.Phe1525Leu)
c.*3623C>G (n.*3623C>G)
c.*2544-101C>G (n.*2544-101C>G)
c.*3674C>G (n.*3674C>G)
c.*2493-101C>G (n.*2493-101C>G)
c.4557C>G (p.Phe1519Leu)
c.4434C>G (p.Phe1478Leu)
c.4380C>G (p.Phe1460Leu)
c.4200C>G (p.Phe1400Leu)
c.4149C>G (p.Phe1383Leu)
c.4827C>G (p.Phe1609Leu)
c.4476C>G (p.Phe1492Leu)
c.4776C>G (p.Phe1592Leu)
2g.120990489C>TCA428750695GLI2c.4524C>T (p.Phe1508=)
c.4575C>T (p.Phe1525=)
c.*3623C>T (n.*3623C>T)
c.*2544-101C>T (n.*2544-101C>T)
c.*3674C>T (n.*3674C>T)
c.*2493-101C>T (n.*2493-101C>T)
c.4557C>T (p.Phe1519=)
c.4434C>T (p.Phe1478=)
c.4380C>T (p.Phe1460=)
c.4200C>T (p.Phe1400=)
c.4149C>T (p.Phe1383=)
c.4827C>T (p.Phe1609=)
c.4476C>T (p.Phe1492=)
c.4776C>T (p.Phe1592=)
 dbSNP gnomAD v4
2g.120990490T>ACA348180030GLI2c.4525T>A (p.Ser1509Thr)
c.4576T>A (p.Ser1526Thr)
c.*3624T>A (n.*3624T>A)
c.*2544-100T>A (n.*2544-100T>A)
c.*3675T>A (n.*3675T>A)
c.*2493-100T>A (n.*2493-100T>A)
c.4558T>A (p.Ser1520Thr)
c.4435T>A (p.Ser1479Thr)
c.4381T>A (p.Ser1461Thr)
c.4201T>A (p.Ser1401Thr)
c.4150T>A (p.Ser1384Thr)
c.4828T>A (p.Ser1610Thr)
c.4477T>A (p.Ser1493Thr)
c.4777T>A (p.Ser1593Thr)
2g.120990490T>CCA1852659GLI2c.4525T>C (p.Ser1509Pro)
c.4576T>C (p.Ser1526Pro)
c.*3624T>C (n.*3624T>C)
c.*2544-100T>C (n.*2544-100T>C)
c.*3675T>C (n.*3675T>C)
c.*2493-100T>C (n.*2493-100T>C)
c.4558T>C (p.Ser1520Pro)
c.4435T>C (p.Ser1479Pro)
c.4381T>C (p.Ser1461Pro)
c.4201T>C (p.Ser1401Pro)
c.4150T>C (p.Ser1384Pro)
c.4828T>C (p.Ser1610Pro)
c.4477T>C (p.Ser1493Pro)
c.4777T>C (p.Ser1593Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120990490T>GCA348180031GLI2c.4525T>G (p.Ser1509Ala)
c.4576T>G (p.Ser1526Ala)
c.*3624T>G (n.*3624T>G)
c.*2544-100T>G (n.*2544-100T>G)
c.*3675T>G (n.*3675T>G)
c.*2493-100T>G (n.*2493-100T>G)
c.4558T>G (p.Ser1520Ala)
c.4435T>G (p.Ser1479Ala)
c.4381T>G (p.Ser1461Ala)
c.4201T>G (p.Ser1401Ala)
c.4150T>G (p.Ser1384Ala)
c.4828T>G (p.Ser1610Ala)
c.4477T>G (p.Ser1493Ala)
c.4777T>G (p.Ser1593Ala)
2g.120990490T=CA1283796142GLI2c.4525T= (p.Ser1509=)
c.4576T= (p.Ser1526=)
c.*3624T= (n.*3624T=)
c.*2544-100T= (n.*2544-100T=)
c.*3675T= (n.*3675T=)
c.*2493-100T= (n.*2493-100T=)
c.4558T= (p.Ser1520=)
c.4435T= (p.Ser1479=)
c.4381T= (p.Ser1461=)
c.4201T= (p.Ser1401=)
c.4150T= (p.Ser1384=)
c.4828T= (p.Ser1610=)
c.4477T= (p.Ser1493=)
c.4777T= (p.Ser1593=)
2g.120990491C>ACA348180032GLI2c.4526C>A (p.Ser1509Ter)
c.4577C>A (p.Ser1526Ter)
c.*3625C>A (n.*3625C>A)
c.*2544-99C>A (n.*2544-99C>A)
c.*3676C>A (n.*3676C>A)
c.*2493-99C>A (n.*2493-99C>A)
c.4559C>A (p.Ser1520Ter)
c.4436C>A (p.Ser1479Ter)
c.4382C>A (p.Ser1461Ter)
c.4202C>A (p.Ser1401Ter)
c.4151C>A (p.Ser1384Ter)
c.4829C>A (p.Ser1610Ter)
c.4478C>A (p.Ser1493Ter)
c.4778C>A (p.Ser1593Ter)
2g.120990491C=CA1283796143GLI2c.4526C= (p.Ser1509=)
c.4577C= (p.Ser1526=)
c.*3625C= (n.*3625C=)
c.*2544-99C= (n.*2544-99C=)
c.*3676C= (n.*3676C=)
c.*2493-99C= (n.*2493-99C=)
c.4559C= (p.Ser1520=)
c.4436C= (p.Ser1479=)
c.4382C= (p.Ser1461=)
c.4202C= (p.Ser1401=)
c.4151C= (p.Ser1384=)
c.4829C= (p.Ser1610=)
c.4478C= (p.Ser1493=)
c.4778C= (p.Ser1593=)
2g.120990491C>GCA348180033GLI2c.4526C>G (p.Ser1509Trp)
c.4577C>G (p.Ser1526Trp)
c.*3625C>G (n.*3625C>G)
c.*2544-99C>G (n.*2544-99C>G)
c.*3676C>G (n.*3676C>G)
c.*2493-99C>G (n.*2493-99C>G)
c.4559C>G (p.Ser1520Trp)
c.4436C>G (p.Ser1479Trp)
c.4382C>G (p.Ser1461Trp)
c.4202C>G (p.Ser1401Trp)
c.4151C>G (p.Ser1384Trp)
c.4829C>G (p.Ser1610Trp)
c.4478C>G (p.Ser1493Trp)
c.4778C>G (p.Ser1593Trp)
 gnomAD v4
2g.120990491C>TCA1852660GLI2c.4526C>T (p.Ser1509Leu)
c.4577C>T (p.Ser1526Leu)
c.*3625C>T (n.*3625C>T)
c.*2544-99C>T (n.*2544-99C>T)
c.*3676C>T (n.*3676C>T)
c.*2493-99C>T (n.*2493-99C>T)
c.4559C>T (p.Ser1520Leu)
c.4436C>T (p.Ser1479Leu)
c.4382C>T (p.Ser1461Leu)
c.4202C>T (p.Ser1401Leu)
c.4151C>T (p.Ser1384Leu)
c.4829C>T (p.Ser1610Leu)
c.4478C>T (p.Ser1493Leu)
c.4778C>T (p.Ser1593Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120990492G>ACA1852661GLI2c.4527G>A (p.Ser1509=)
c.4578G>A (p.Ser1526=)
c.*3626G>A (n.*3626G>A)
c.*2544-98G>A (n.*2544-98G>A)
c.*3677G>A (n.*3677G>A)
c.*2493-98G>A (n.*2493-98G>A)
c.4560G>A (p.Ser1520=)
c.4437G>A (p.Ser1479=)
c.4383G>A (p.Ser1461=)
c.4203G>A (p.Ser1401=)
c.4152G>A (p.Ser1384=)
c.4830G>A (p.Ser1610=)
c.4479G>A (p.Ser1493=)
c.4779G>A (p.Ser1593=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.120990492G>CCA428750696GLI2c.4527G>C (p.Ser1509=)
c.4578G>C (p.Ser1526=)
c.*3626G>C (n.*3626G>C)
c.*2544-98G>C (n.*2544-98G>C)
c.*3677G>C (n.*3677G>C)
c.*2493-98G>C (n.*2493-98G>C)
c.4560G>C (p.Ser1520=)
c.4437G>C (p.Ser1479=)
c.4383G>C (p.Ser1461=)
c.4203G>C (p.Ser1401=)
c.4152G>C (p.Ser1384=)
c.4830G>C (p.Ser1610=)
c.4479G>C (p.Ser1493=)
c.4779G>C (p.Ser1593=)
 dbSNP
2g.120990492G=CA1283796144GLI2c.4527G= (p.Ser1509=)
c.4578G= (p.Ser1526=)
c.*3626G= (n.*3626G=)
c.*2544-98G= (n.*2544-98G=)
c.*3677G= (n.*3677G=)
c.*2493-98G= (n.*2493-98G=)
c.4560G= (p.Ser1520=)
c.4437G= (p.Ser1479=)
c.4383G= (p.Ser1461=)
c.4203G= (p.Ser1401=)
c.4152G= (p.Ser1384=)
c.4830G= (p.Ser1610=)
c.4479G= (p.Ser1493=)
c.4779G= (p.Ser1593=)
2g.120990492G>TCA428750697GLI2c.4527G>T (p.Ser1509=)
c.4578G>T (p.Ser1526=)
c.*3626G>T (n.*3626G>T)
c.*2544-98G>T (n.*2544-98G>T)
c.*3677G>T (n.*3677G>T)
c.*2493-98G>T (n.*2493-98G>T)
c.4560G>T (p.Ser1520=)
c.4437G>T (p.Ser1479=)
c.4383G>T (p.Ser1461=)
c.4203G>T (p.Ser1401=)
c.4152G>T (p.Ser1384=)
c.4830G>T (p.Ser1610=)
c.4479G>T (p.Ser1493=)
c.4779G>T (p.Ser1593=)
2g.120990493G>ACA348180034GLI2c.4528G>A (p.Gly1510Ser)
c.4579G>A (p.Gly1527Ser)
c.*3627G>A (n.*3627G>A)
c.*2544-97G>A (n.*2544-97G>A)
c.*3678G>A (n.*3678G>A)
c.*2493-97G>A (n.*2493-97G>A)
c.4561G>A (p.Gly1521Ser)
c.4438G>A (p.Gly1480Ser)
c.4384G>A (p.Gly1462Ser)
c.4204G>A (p.Gly1402Ser)
c.4153G>A (p.Gly1385Ser)
c.4831G>A (p.Gly1611Ser)
c.4480G>A (p.Gly1494Ser)
c.4780G>A (p.Gly1594Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.120990493G>CCA348180035GLI2c.4528G>C (p.Gly1510Arg)
c.4579G>C (p.Gly1527Arg)
c.*3627G>C (n.*3627G>C)
c.*2544-97G>C (n.*2544-97G>C)
c.*3678G>C (n.*3678G>C)
c.*2493-97G>C (n.*2493-97G>C)
c.4561G>C (p.Gly1521Arg)
c.4438G>C (p.Gly1480Arg)
c.4384G>C (p.Gly1462Arg)
c.4204G>C (p.Gly1402Arg)
c.4153G>C (p.Gly1385Arg)
c.4831G>C (p.Gly1611Arg)
c.4480G>C (p.Gly1494Arg)
c.4780G>C (p.Gly1594Arg)
 ClinVar gnomAD v4
2g.120990493G=CA1283796145GLI2c.4528G= (p.Gly1510=)
c.4579G= (p.Gly1527=)
c.*3627G= (n.*3627G=)
c.*2544-97G= (n.*2544-97G=)
c.*3678G= (n.*3678G=)
c.*2493-97G= (n.*2493-97G=)
c.4561G= (p.Gly1521=)
c.4438G= (p.Gly1480=)
c.4384G= (p.Gly1462=)
c.4204G= (p.Gly1402=)
c.4153G= (p.Gly1385=)
c.4831G= (p.Gly1611=)
c.4480G= (p.Gly1494=)
c.4780G= (p.Gly1594=)
2g.120990493G>TCA348180036GLI2c.4528G>T (p.Gly1510Cys)
c.4579G>T (p.Gly1527Cys)
c.*3627G>T (n.*3627G>T)
c.*2544-97G>T (n.*2544-97G>T)
c.*3678G>T (n.*3678G>T)
c.*2493-97G>T (n.*2493-97G>T)
c.4561G>T (p.Gly1521Cys)
c.4438G>T (p.Gly1480Cys)
c.4384G>T (p.Gly1462Cys)
c.4204G>T (p.Gly1402Cys)
c.4153G>T (p.Gly1385Cys)
c.4831G>T (p.Gly1611Cys)
c.4480G>T (p.Gly1494Cys)
c.4780G>T (p.Gly1594Cys)
2g.120990494G>ACA348180037GLI2c.4529G>A (p.Gly1510Asp)
c.4580G>A (p.Gly1527Asp)
c.*3628G>A (n.*3628G>A)
c.*2544-96G>A (n.*2544-96G>A)
c.*3679G>A (n.*3679G>A)
c.*2493-96G>A (n.*2493-96G>A)
c.4562G>A (p.Gly1521Asp)
c.4439G>A (p.Gly1480Asp)
c.4385G>A (p.Gly1462Asp)
c.4205G>A (p.Gly1402Asp)
c.4154G>A (p.Gly1385Asp)
c.4832G>A (p.Gly1611Asp)
c.4481G>A (p.Gly1494Asp)
c.4781G>A (p.Gly1594Asp)
 dbSNP
2g.120990494G>CCA348180038GLI2c.4529G>C (p.Gly1510Ala)
c.4580G>C (p.Gly1527Ala)
c.*3628G>C (n.*3628G>C)
c.*2544-96G>C (n.*2544-96G>C)
c.*3679G>C (n.*3679G>C)
c.*2493-96G>C (n.*2493-96G>C)
c.4562G>C (p.Gly1521Ala)
c.4439G>C (p.Gly1480Ala)
c.4385G>C (p.Gly1462Ala)
c.4205G>C (p.Gly1402Ala)
c.4154G>C (p.Gly1385Ala)
c.4832G>C (p.Gly1611Ala)
c.4481G>C (p.Gly1494Ala)
c.4781G>C (p.Gly1594Ala)
2g.120990494G=CA1283796146GLI2c.4529G= (p.Gly1510=)
c.4580G= (p.Gly1527=)
c.*3628G= (n.*3628G=)
c.*2544-96G= (n.*2544-96G=)
c.*3679G= (n.*3679G=)
c.*2493-96G= (n.*2493-96G=)
c.4562G= (p.Gly1521=)
c.4439G= (p.Gly1480=)
c.4385G= (p.Gly1462=)
c.4205G= (p.Gly1402=)
c.4154G= (p.Gly1385=)
c.4832G= (p.Gly1611=)
c.4481G= (p.Gly1494=)
c.4781G= (p.Gly1594=)
2g.120990494G>TCA348180039GLI2c.4529G>T (p.Gly1510Val)
c.4580G>T (p.Gly1527Val)
c.*3628G>T (n.*3628G>T)
c.*2544-96G>T (n.*2544-96G>T)
c.*3679G>T (n.*3679G>T)
c.*2493-96G>T (n.*2493-96G>T)
c.4562G>T (p.Gly1521Val)
c.4439G>T (p.Gly1480Val)
c.4385G>T (p.Gly1462Val)
c.4205G>T (p.Gly1402Val)
c.4154G>T (p.Gly1385Val)
c.4832G>T (p.Gly1611Val)
c.4481G>T (p.Gly1494Val)
c.4781G>T (p.Gly1594Val)
 COSMIC
2g.120990495T>ACA428750698GLI2c.4530T>A (p.Gly1510=)
c.4581T>A (p.Gly1527=)
c.*3629T>A (n.*3629T>A)
c.*2544-95T>A (n.*2544-95T>A)
c.*3680T>A (n.*3680T>A)
c.*2493-95T>A (n.*2493-95T>A)
c.4563T>A (p.Gly1521=)
c.4440T>A (p.Gly1480=)
c.4386T>A (p.Gly1462=)
c.4206T>A (p.Gly1402=)
c.4155T>A (p.Gly1385=)
c.4833T>A (p.Gly1611=)
c.4482T>A (p.Gly1494=)
c.4782T>A (p.Gly1594=)
2g.120990495T>CCA1852662GLI2c.4530T>C (p.Gly1510=)
c.4581T>C (p.Gly1527=)
c.*3629T>C (n.*3629T>C)
c.*2544-95T>C (n.*2544-95T>C)
c.*3680T>C (n.*3680T>C)
c.*2493-95T>C (n.*2493-95T>C)
c.4563T>C (p.Gly1521=)
c.4440T>C (p.Gly1480=)
c.4386T>C (p.Gly1462=)
c.4206T>C (p.Gly1402=)
c.4155T>C (p.Gly1385=)
c.4833T>C (p.Gly1611=)
c.4482T>C (p.Gly1494=)
c.4782T>C (p.Gly1594=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120990495T>GCA428750699GLI2c.4530T>G (p.Gly1510=)
c.4581T>G (p.Gly1527=)
c.*3629T>G (n.*3629T>G)
c.*2544-95T>G (n.*2544-95T>G)
c.*3680T>G (n.*3680T>G)
c.*2493-95T>G (n.*2493-95T>G)
c.4563T>G (p.Gly1521=)
c.4440T>G (p.Gly1480=)
c.4386T>G (p.Gly1462=)
c.4206T>G (p.Gly1402=)
c.4155T>G (p.Gly1385=)
c.4833T>G (p.Gly1611=)
c.4482T>G (p.Gly1494=)
c.4782T>G (p.Gly1594=)
2g.120990495T=CA1283796147GLI2c.4530T= (p.Gly1510=)
c.4581T= (p.Gly1527=)
c.*3629T= (n.*3629T=)
c.*2544-95T= (n.*2544-95T=)
c.*3680T= (n.*3680T=)
c.*2493-95T= (n.*2493-95T=)
c.4563T= (p.Gly1521=)
c.4440T= (p.Gly1480=)
c.4386T= (p.Gly1462=)
c.4206T= (p.Gly1402=)
c.4155T= (p.Gly1385=)
c.4833T= (p.Gly1611=)
c.4482T= (p.Gly1494=)
c.4782T= (p.Gly1594=)
2g.120990496G>ACA348180042GLI2c.4531G>A (p.Ala1511Thr)
c.4582G>A (p.Ala1528Thr)
c.*3630G>A (n.*3630G>A)
c.*2544-94G>A (n.*2544-94G>A)
c.*3681G>A (n.*3681G>A)
c.*2493-94G>A (n.*2493-94G>A)
c.4564G>A (p.Ala1522Thr)
c.4441G>A (p.Ala1481Thr)
c.4387G>A (p.Ala1463Thr)
c.4207G>A (p.Ala1403Thr)
c.4156G>A (p.Ala1386Thr)
c.4834G>A (p.Ala1612Thr)
c.4483G>A (p.Ala1495Thr)
c.4783G>A (p.Ala1595Thr)
 gnomAD v4
2g.120990496G>CCA348180041GLI2c.4531G>C (p.Ala1511Pro)
c.4582G>C (p.Ala1528Pro)
c.*3630G>C (n.*3630G>C)
c.*2544-94G>C (n.*2544-94G>C)
c.*3681G>C (n.*3681G>C)
c.*2493-94G>C (n.*2493-94G>C)
c.4564G>C (p.Ala1522Pro)
c.4441G>C (p.Ala1481Pro)
c.4387G>C (p.Ala1463Pro)
c.4207G>C (p.Ala1403Pro)
c.4156G>C (p.Ala1386Pro)
c.4834G>C (p.Ala1612Pro)
c.4483G>C (p.Ala1495Pro)
c.4783G>C (p.Ala1595Pro)
2g.120990496G>TCA348180040GLI2c.4531G>T (p.Ala1511Ser)
c.4582G>T (p.Ala1528Ser)
c.*3630G>T (n.*3630G>T)
c.*2544-94G>T (n.*2544-94G>T)
c.*3681G>T (n.*3681G>T)
c.*2493-94G>T (n.*2493-94G>T)
c.4564G>T (p.Ala1522Ser)
c.4441G>T (p.Ala1481Ser)
c.4387G>T (p.Ala1463Ser)
c.4207G>T (p.Ala1403Ser)
c.4156G>T (p.Ala1386Ser)
c.4834G>T (p.Ala1612Ser)
c.4483G>T (p.Ala1495Ser)
c.4783G>T (p.Ala1595Ser)
 gnomAD v4
2g.120990497C>ACA348180043GLI2c.4532C>A (p.Ala1511Asp)
c.4583C>A (p.Ala1528Asp)
c.*3631C>A (n.*3631C>A)
c.*2544-93C>A (n.*2544-93C>A)
c.*3682C>A (n.*3682C>A)
c.*2493-93C>A (n.*2493-93C>A)
c.4565C>A (p.Ala1522Asp)
c.4442C>A (p.Ala1481Asp)
c.4388C>A (p.Ala1463Asp)
c.4208C>A (p.Ala1403Asp)
c.4157C>A (p.Ala1386Asp)
c.4835C>A (p.Ala1612Asp)
c.4484C>A (p.Ala1495Asp)
c.4784C>A (p.Ala1595Asp)
2g.120990497C=CA1283796148GLI2c.4532C= (p.Ala1511=)
c.4583C= (p.Ala1528=)
c.*3631C= (n.*3631C=)
c.*2544-93C= (n.*2544-93C=)
c.*3682C= (n.*3682C=)
c.*2493-93C= (n.*2493-93C=)
c.4565C= (p.Ala1522=)
c.4442C= (p.Ala1481=)
c.4388C= (p.Ala1463=)
c.4208C= (p.Ala1403=)
c.4157C= (p.Ala1386=)
c.4835C= (p.Ala1612=)
c.4484C= (p.Ala1495=)
c.4784C= (p.Ala1595=)
2g.120990497C>GCA348180044GLI2c.4532C>G (p.Ala1511Gly)
c.4583C>G (p.Ala1528Gly)
c.*3631C>G (n.*3631C>G)
c.*2544-93C>G (n.*2544-93C>G)
c.*3682C>G (n.*3682C>G)
c.*2493-93C>G (n.*2493-93C>G)
c.4565C>G (p.Ala1522Gly)
c.4442C>G (p.Ala1481Gly)
c.4388C>G (p.Ala1463Gly)
c.4208C>G (p.Ala1403Gly)
c.4157C>G (p.Ala1386Gly)
c.4835C>G (p.Ala1612Gly)
c.4484C>G (p.Ala1495Gly)
c.4784C>G (p.Ala1595Gly)
2g.120990497C>TCA348180045GLI2c.4532C>T (p.Ala1511Val)
c.4583C>T (p.Ala1528Val)
c.*3631C>T (n.*3631C>T)
c.*2544-93C>T (n.*2544-93C>T)
c.*3682C>T (n.*3682C>T)
c.*2493-93C>T (n.*2493-93C>T)
c.4565C>T (p.Ala1522Val)
c.4442C>T (p.Ala1481Val)
c.4388C>T (p.Ala1463Val)
c.4208C>T (p.Ala1403Val)
c.4157C>T (p.Ala1386Val)
c.4835C>T (p.Ala1612Val)
c.4484C>T (p.Ala1495Val)
c.4784C>T (p.Ala1595Val)
 ClinVar dbSNP gnomAD v4
2g.120990498T>ACA428750700GLI2c.4533T>A (p.Ala1511=)
c.4584T>A (p.Ala1528=)
c.*3632T>A (n.*3632T>A)
c.*2544-92T>A (n.*2544-92T>A)
c.*3683T>A (n.*3683T>A)
c.*2493-92T>A (n.*2493-92T>A)
c.4566T>A (p.Ala1522=)
c.4443T>A (p.Ala1481=)
c.4389T>A (p.Ala1463=)
c.4209T>A (p.Ala1403=)
c.4158T>A (p.Ala1386=)
c.4836T>A (p.Ala1612=)
c.4485T>A (p.Ala1495=)
c.4785T>A (p.Ala1595=)
2g.120990498T>CCA428750701GLI2c.4533T>C (p.Ala1511=)
c.4584T>C (p.Ala1528=)
c.*3632T>C (n.*3632T>C)
c.*2544-92T>C (n.*2544-92T>C)
c.*3683T>C (n.*3683T>C)
c.*2493-92T>C (n.*2493-92T>C)
c.4566T>C (p.Ala1522=)
c.4443T>C (p.Ala1481=)
c.4389T>C (p.Ala1463=)
c.4209T>C (p.Ala1403=)
c.4158T>C (p.Ala1386=)
c.4836T>C (p.Ala1612=)
c.4485T>C (p.Ala1495=)
c.4785T>C (p.Ala1595=)
2g.120990498T>GCA428750702GLI2c.4533T>G (p.Ala1511=)
c.4584T>G (p.Ala1528=)
c.*3632T>G (n.*3632T>G)
c.*2544-92T>G (n.*2544-92T>G)
c.*3683T>G (n.*3683T>G)
c.*2493-92T>G (n.*2493-92T>G)
c.4566T>G (p.Ala1522=)
c.4443T>G (p.Ala1481=)
c.4389T>G (p.Ala1463=)
c.4209T>G (p.Ala1403=)
c.4158T>G (p.Ala1386=)
c.4836T>G (p.Ala1612=)
c.4485T>G (p.Ala1495=)
c.4785T>G (p.Ala1595=)
2g.120990499C>ACA348180046GLI2c.4534C>A (p.Leu1512Met)
c.4585C>A (p.Leu1529Met)
c.*3633C>A (n.*3633C>A)
c.*2544-91C>A (n.*2544-91C>A)
c.*3684C>A (n.*3684C>A)
c.*2493-91C>A (n.*2493-91C>A)
c.4567C>A (p.Leu1523Met)
c.4444C>A (p.Leu1482Met)
c.4390C>A (p.Leu1464Met)
c.4210C>A (p.Leu1404Met)
c.4159C>A (p.Leu1387Met)
c.4837C>A (p.Leu1613Met)
c.4486C>A (p.Leu1496Met)
c.4786C>A (p.Leu1596Met)
2g.120990499C=CA1283796149GLI2c.4534C= (p.Leu1512=)
c.4585C= (p.Leu1529=)
c.*3633C= (n.*3633C=)
c.*2544-91C= (n.*2544-91C=)
c.*3684C= (n.*3684C=)
c.*2493-91C= (n.*2493-91C=)
c.4567C= (p.Leu1523=)
c.4444C= (p.Leu1482=)
c.4390C= (p.Leu1464=)
c.4210C= (p.Leu1404=)
c.4159C= (p.Leu1387=)
c.4837C= (p.Leu1613=)
c.4486C= (p.Leu1496=)
c.4786C= (p.Leu1596=)
2g.120990499C>GCA348180047GLI2c.4534C>G (p.Leu1512Val)
c.4585C>G (p.Leu1529Val)
c.*3633C>G (n.*3633C>G)
c.*2544-91C>G (n.*2544-91C>G)
c.*3684C>G (n.*3684C>G)
c.*2493-91C>G (n.*2493-91C>G)
c.4567C>G (p.Leu1523Val)
c.4444C>G (p.Leu1482Val)
c.4390C>G (p.Leu1464Val)
c.4210C>G (p.Leu1404Val)
c.4159C>G (p.Leu1387Val)
c.4837C>G (p.Leu1613Val)
c.4486C>G (p.Leu1496Val)
c.4786C>G (p.Leu1596Val)
 gnomAD v4
2g.120990499C>TCA54386498GLI2c.4534C>T (p.Leu1512=)
c.4585C>T (p.Leu1529=)
c.*3633C>T (n.*3633C>T)
c.*2544-91C>T (n.*2544-91C>T)
c.*3684C>T (n.*3684C>T)
c.*2493-91C>T (n.*2493-91C>T)
c.4567C>T (p.Leu1523=)
c.4444C>T (p.Leu1482=)
c.4390C>T (p.Leu1464=)
c.4210C>T (p.Leu1404=)
c.4159C>T (p.Leu1387=)
c.4837C>T (p.Leu1613=)
c.4486C>T (p.Leu1496=)
c.4786C>T (p.Leu1596=)
 dbSNP
2g.120990500T>ACA348180048GLI2c.4535T>A (p.Leu1512Gln)
c.4586T>A (p.Leu1529Gln)
c.*3634T>A (n.*3634T>A)
c.*2544-90T>A (n.*2544-90T>A)
c.*3685T>A (n.*3685T>A)
c.*2493-90T>A (n.*2493-90T>A)
c.4568T>A (p.Leu1523Gln)
c.4445T>A (p.Leu1482Gln)
c.4391T>A (p.Leu1464Gln)
c.4211T>A (p.Leu1404Gln)
c.4160T>A (p.Leu1387Gln)
c.4838T>A (p.Leu1613Gln)
c.4487T>A (p.Leu1496Gln)
c.4787T>A (p.Leu1596Gln)
2g.120990500T>CCA348180049GLI2c.4535T>C (p.Leu1512Pro)
c.4586T>C (p.Leu1529Pro)
c.*3634T>C (n.*3634T>C)
c.*2544-90T>C (n.*2544-90T>C)
c.*3685T>C (n.*3685T>C)
c.*2493-90T>C (n.*2493-90T>C)
c.4568T>C (p.Leu1523Pro)
c.4445T>C (p.Leu1482Pro)
c.4391T>C (p.Leu1464Pro)
c.4211T>C (p.Leu1404Pro)
c.4160T>C (p.Leu1387Pro)
c.4838T>C (p.Leu1613Pro)
c.4487T>C (p.Leu1496Pro)
c.4787T>C (p.Leu1596Pro)
2g.120990500T>GCA348180050GLI2c.4535T>G (p.Leu1512Arg)
c.4586T>G (p.Leu1529Arg)
c.*3634T>G (n.*3634T>G)
c.*2544-90T>G (n.*2544-90T>G)
c.*3685T>G (n.*3685T>G)
c.*2493-90T>G (n.*2493-90T>G)
c.4568T>G (p.Leu1523Arg)
c.4445T>G (p.Leu1482Arg)
c.4391T>G (p.Leu1464Arg)
c.4211T>G (p.Leu1404Arg)
c.4160T>G (p.Leu1387Arg)
c.4838T>G (p.Leu1613Arg)
c.4487T>G (p.Leu1496Arg)
c.4787T>G (p.Leu1596Arg)
2g.120990501G>ACA428750703GLI2c.4536G>A (p.Leu1512=)
c.4587G>A (p.Leu1529=)
c.*3635G>A (n.*3635G>A)
c.*2544-89G>A (n.*2544-89G>A)
c.*3686G>A (n.*3686G>A)
c.*2493-89G>A (n.*2493-89G>A)
c.4569G>A (p.Leu1523=)
c.4446G>A (p.Leu1482=)
c.4392G>A (p.Leu1464=)
c.4212G>A (p.Leu1404=)
c.4161G>A (p.Leu1387=)
c.4839G>A (p.Leu1613=)
c.4488G>A (p.Leu1496=)
c.4788G>A (p.Leu1596=)
 dbSNP
2g.120990501G>CCA428750705GLI2c.4536G>C (p.Leu1512=)
c.4587G>C (p.Leu1529=)
c.*3635G>C (n.*3635G>C)
c.*2544-89G>C (n.*2544-89G>C)
c.*3686G>C (n.*3686G>C)
c.*2493-89G>C (n.*2493-89G>C)
c.4569G>C (p.Leu1523=)
c.4446G>C (p.Leu1482=)
c.4392G>C (p.Leu1464=)
c.4212G>C (p.Leu1404=)
c.4161G>C (p.Leu1387=)
c.4839G>C (p.Leu1613=)
c.4488G>C (p.Leu1496=)
c.4788G>C (p.Leu1596=)
2g.120990501G=CA1283796150GLI2c.4536G= (p.Leu1512=)
c.4587G= (p.Leu1529=)
c.*3635G= (n.*3635G=)
c.*2544-89G= (n.*2544-89G=)
c.*3686G= (n.*3686G=)
c.*2493-89G= (n.*2493-89G=)
c.4569G= (p.Leu1523=)
c.4446G= (p.Leu1482=)
c.4392G= (p.Leu1464=)
c.4212G= (p.Leu1404=)
c.4161G= (p.Leu1387=)
c.4839G= (p.Leu1613=)
c.4488G= (p.Leu1496=)
c.4788G= (p.Leu1596=)
2g.120990501G>TCA428750704GLI2c.4536G>T (p.Leu1512=)
c.4587G>T (p.Leu1529=)
c.*3635G>T (n.*3635G>T)
c.*2544-89G>T (n.*2544-89G>T)
c.*3686G>T (n.*3686G>T)
c.*2493-89G>T (n.*2493-89G>T)
c.4569G>T (p.Leu1523=)
c.4446G>T (p.Leu1482=)
c.4392G>T (p.Leu1464=)
c.4212G>T (p.Leu1404=)
c.4161G>T (p.Leu1387=)
c.4839G>T (p.Leu1613=)
c.4488G>T (p.Leu1496=)
c.4788G>T (p.Leu1596=)
2g.120990502A>CCA348180051GLI2c.4537A>C (p.Ser1513Arg)
c.4588A>C (p.Ser1530Arg)
c.*3636A>C (n.*3636A>C)
c.*2544-88A>C (n.*2544-88A>C)
c.*3687A>C (n.*3687A>C)
c.*2493-88A>C (n.*2493-88A>C)
c.4570A>C (p.Ser1524Arg)
c.4447A>C (p.Ser1483Arg)
c.4393A>C (p.Ser1465Arg)
c.4213A>C (p.Ser1405Arg)
c.4162A>C (p.Ser1388Arg)
c.4840A>C (p.Ser1614Arg)
c.4489A>C (p.Ser1497Arg)
c.4789A>C (p.Ser1597Arg)
2g.120990502A>GCA348180052GLI2c.4537A>G (p.Ser1513Gly)
c.4588A>G (p.Ser1530Gly)
c.*3636A>G (n.*3636A>G)
c.*2544-88A>G (n.*2544-88A>G)
c.*3687A>G (n.*3687A>G)
c.*2493-88A>G (n.*2493-88A>G)
c.4570A>G (p.Ser1524Gly)
c.4447A>G (p.Ser1483Gly)
c.4393A>G (p.Ser1465Gly)
c.4213A>G (p.Ser1405Gly)
c.4162A>G (p.Ser1388Gly)
c.4840A>G (p.Ser1614Gly)
c.4489A>G (p.Ser1497Gly)
c.4789A>G (p.Ser1597Gly)
2g.120990502A>TCA348180053GLI2c.4537A>T (p.Ser1513Cys)
c.4588A>T (p.Ser1530Cys)
c.*3636A>T (n.*3636A>T)
c.*2544-88A>T (n.*2544-88A>T)
c.*3687A>T (n.*3687A>T)
c.*2493-88A>T (n.*2493-88A>T)
c.4570A>T (p.Ser1524Cys)
c.4447A>T (p.Ser1483Cys)
c.4393A>T (p.Ser1465Cys)
c.4213A>T (p.Ser1405Cys)
c.4162A>T (p.Ser1388Cys)
c.4840A>T (p.Ser1614Cys)
c.4489A>T (p.Ser1497Cys)
c.4789A>T (p.Ser1597Cys)
2g.120990503G>ACA1852663GLI2c.4538G>A (p.Ser1513Asn)
c.4589G>A (p.Ser1530Asn)
c.*3637G>A (n.*3637G>A)
c.*2544-87G>A (n.*2544-87G>A)
c.*3688G>A (n.*3688G>A)
c.*2493-87G>A (n.*2493-87G>A)
c.4571G>A (p.Ser1524Asn)
c.4448G>A (p.Ser1483Asn)
c.4394G>A (p.Ser1465Asn)
c.4214G>A (p.Ser1405Asn)
c.4163G>A (p.Ser1388Asn)
c.4841G>A (p.Ser1614Asn)
c.4490G>A (p.Ser1497Asn)
c.4790G>A (p.Ser1597Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120990503G>CCA348180055GLI2c.4538G>C (p.Ser1513Thr)
c.4589G>C (p.Ser1530Thr)
c.*3637G>C (n.*3637G>C)
c.*2544-87G>C (n.*2544-87G>C)
c.*3688G>C (n.*3688G>C)
c.*2493-87G>C (n.*2493-87G>C)
c.4571G>C (p.Ser1524Thr)
c.4448G>C (p.Ser1483Thr)
c.4394G>C (p.Ser1465Thr)
c.4214G>C (p.Ser1405Thr)
c.4163G>C (p.Ser1388Thr)
c.4841G>C (p.Ser1614Thr)
c.4490G>C (p.Ser1497Thr)
c.4790G>C (p.Ser1597Thr)
2g.120990503G=CA1283796151GLI2c.4538G= (p.Ser1513=)
c.4589G= (p.Ser1530=)
c.*3637G= (n.*3637G=)
c.*2544-87G= (n.*2544-87G=)
c.*3688G= (n.*3688G=)
c.*2493-87G= (n.*2493-87G=)
c.4571G= (p.Ser1524=)
c.4448G= (p.Ser1483=)
c.4394G= (p.Ser1465=)
c.4214G= (p.Ser1405=)
c.4163G= (p.Ser1388=)
c.4841G= (p.Ser1614=)
c.4490G= (p.Ser1497=)
c.4790G= (p.Ser1597=)
2g.120990503G>TCA348180054GLI2c.4538G>T (p.Ser1513Ile)
c.4589G>T (p.Ser1530Ile)
c.*3637G>T (n.*3637G>T)
c.*2544-87G>T (n.*2544-87G>T)
c.*3688G>T (n.*3688G>T)
c.*2493-87G>T (n.*2493-87G>T)
c.4571G>T (p.Ser1524Ile)
c.4448G>T (p.Ser1483Ile)
c.4394G>T (p.Ser1465Ile)
c.4214G>T (p.Ser1405Ile)
c.4163G>T (p.Ser1388Ile)
c.4841G>T (p.Ser1614Ile)
c.4490G>T (p.Ser1497Ile)
c.4790G>T (p.Ser1597Ile)
2g.120990504C>ACA348180056GLI2c.4539C>A (p.Ser1513Arg)
c.4590C>A (p.Ser1530Arg)
c.*3638C>A (n.*3638C>A)
c.*2544-86C>A (n.*2544-86C>A)
c.*3689C>A (n.*3689C>A)
c.*2493-86C>A (n.*2493-86C>A)
c.4572C>A (p.Ser1524Arg)
c.4449C>A (p.Ser1483Arg)
c.4395C>A (p.Ser1465Arg)
c.4215C>A (p.Ser1405Arg)
c.4164C>A (p.Ser1388Arg)
c.4842C>A (p.Ser1614Arg)
c.4491C>A (p.Ser1497Arg)
c.4791C>A (p.Ser1597Arg)
2g.120990504C=CA1283796152GLI2c.4539C= (p.Ser1513=)
c.4590C= (p.Ser1530=)
c.*3638C= (n.*3638C=)
c.*2544-86C= (n.*2544-86C=)
c.*3689C= (n.*3689C=)
c.*2493-86C= (n.*2493-86C=)
c.4572C= (p.Ser1524=)
c.4449C= (p.Ser1483=)
c.4395C= (p.Ser1465=)
c.4215C= (p.Ser1405=)
c.4164C= (p.Ser1388=)
c.4842C= (p.Ser1614=)
c.4491C= (p.Ser1497=)
c.4791C= (p.Ser1597=)
2g.120990504C>GCA348180057GLI2c.4539C>G (p.Ser1513Arg)
c.4590C>G (p.Ser1530Arg)
c.*3638C>G (n.*3638C>G)
c.*2544-86C>G (n.*2544-86C>G)
c.*3689C>G (n.*3689C>G)
c.*2493-86C>G (n.*2493-86C>G)
c.4572C>G (p.Ser1524Arg)
c.4449C>G (p.Ser1483Arg)
c.4395C>G (p.Ser1465Arg)
c.4215C>G (p.Ser1405Arg)
c.4164C>G (p.Ser1388Arg)
c.4842C>G (p.Ser1614Arg)
c.4491C>G (p.Ser1497Arg)
c.4791C>G (p.Ser1597Arg)
2g.120990504C>TCA428750706GLI2c.4539C>T (p.Ser1513=)
c.4590C>T (p.Ser1530=)
c.*3638C>T (n.*3638C>T)
c.*2544-86C>T (n.*2544-86C>T)
c.*3689C>T (n.*3689C>T)
c.*2493-86C>T (n.*2493-86C>T)
c.4572C>T (p.Ser1524=)
c.4449C>T (p.Ser1483=)
c.4395C>T (p.Ser1465=)
c.4215C>T (p.Ser1405=)
c.4164C>T (p.Ser1388=)
c.4842C>T (p.Ser1614=)
c.4491C>T (p.Ser1497=)
c.4791C>T (p.Ser1597=)
 dbSNP
2g.120990505C>ACA348180058GLI2c.4540C>A (p.Pro1514Thr)
c.4591C>A (p.Pro1531Thr)
c.*3639C>A (n.*3639C>A)
c.*2544-85C>A (n.*2544-85C>A)
c.*3690C>A (n.*3690C>A)
c.*2493-85C>A (n.*2493-85C>A)
c.4573C>A (p.Pro1525Thr)
c.4450C>A (p.Pro1484Thr)
c.4396C>A (p.Pro1466Thr)
c.4216C>A (p.Pro1406Thr)
c.4165C>A (p.Pro1389Thr)
c.4843C>A (p.Pro1615Thr)
c.4492C>A (p.Pro1498Thr)
c.4792C>A (p.Pro1598Thr)
2g.120990505C>GCA348180059GLI2c.4540C>G (p.Pro1514Ala)
c.4591C>G (p.Pro1531Ala)
c.*3639C>G (n.*3639C>G)
c.*2544-85C>G (n.*2544-85C>G)
c.*3690C>G (n.*3690C>G)
c.*2493-85C>G (n.*2493-85C>G)
c.4573C>G (p.Pro1525Ala)
c.4450C>G (p.Pro1484Ala)
c.4396C>G (p.Pro1466Ala)
c.4216C>G (p.Pro1406Ala)
c.4165C>G (p.Pro1389Ala)
c.4843C>G (p.Pro1615Ala)
c.4492C>G (p.Pro1498Ala)
c.4792C>G (p.Pro1598Ala)
2g.120990505C>TCA348180060GLI2c.4540C>T (p.Pro1514Ser)
c.4591C>T (p.Pro1531Ser)
c.*3639C>T (n.*3639C>T)
c.*2544-85C>T (n.*2544-85C>T)
c.*3690C>T (n.*3690C>T)
c.*2493-85C>T (n.*2493-85C>T)
c.4573C>T (p.Pro1525Ser)
c.4450C>T (p.Pro1484Ser)
c.4396C>T (p.Pro1466Ser)
c.4216C>T (p.Pro1406Ser)
c.4165C>T (p.Pro1389Ser)
c.4843C>T (p.Pro1615Ser)
c.4492C>T (p.Pro1498Ser)
c.4792C>T (p.Pro1598Ser)
2g.120990506C>ACA348180061GLI2c.4541C>A (p.Pro1514His)
c.4592C>A (p.Pro1531His)
c.*3640C>A (n.*3640C>A)
c.*2544-84C>A (n.*2544-84C>A)
c.*3691C>A (n.*3691C>A)
c.*2493-84C>A (n.*2493-84C>A)
c.4574C>A (p.Pro1525His)
c.4451C>A (p.Pro1484His)
c.4397C>A (p.Pro1466His)
c.4217C>A (p.Pro1406His)
c.4166C>A (p.Pro1389His)
c.4844C>A (p.Pro1615His)
c.4493C>A (p.Pro1498His)
c.4793C>A (p.Pro1598His)
 gnomAD v4
2g.120990506C>GCA348180062GLI2c.4541C>G (p.Pro1514Arg)
c.4592C>G (p.Pro1531Arg)
c.*3640C>G (n.*3640C>G)
c.*2544-84C>G (n.*2544-84C>G)
c.*3691C>G (n.*3691C>G)
c.*2493-84C>G (n.*2493-84C>G)
c.4574C>G (p.Pro1525Arg)
c.4451C>G (p.Pro1484Arg)
c.4397C>G (p.Pro1466Arg)
c.4217C>G (p.Pro1406Arg)
c.4166C>G (p.Pro1389Arg)
c.4844C>G (p.Pro1615Arg)
c.4493C>G (p.Pro1498Arg)
c.4793C>G (p.Pro1598Arg)
2g.120990506C>TCA348180063GLI2c.4541C>T (p.Pro1514Leu)
c.4592C>T (p.Pro1531Leu)
c.*3640C>T (n.*3640C>T)
c.*2544-84C>T (n.*2544-84C>T)
c.*3691C>T (n.*3691C>T)
c.*2493-84C>T (n.*2493-84C>T)
c.4574C>T (p.Pro1525Leu)
c.4451C>T (p.Pro1484Leu)
c.4397C>T (p.Pro1466Leu)
c.4217C>T (p.Pro1406Leu)
c.4166C>T (p.Pro1389Leu)
c.4844C>T (p.Pro1615Leu)
c.4493C>T (p.Pro1498Leu)
c.4793C>T (p.Pro1598Leu)
2g.120990507C>ACA428750707GLI2c.4542C>A (p.Pro1514=)
c.4593C>A (p.Pro1531=)
c.*3641C>A (n.*3641C>A)
c.*2544-83C>A (n.*2544-83C>A)
c.*3692C>A (n.*3692C>A)
c.*2493-83C>A (n.*2493-83C>A)
c.4575C>A (p.Pro1525=)
c.4452C>A (p.Pro1484=)
c.4398C>A (p.Pro1466=)
c.4218C>A (p.Pro1406=)
c.4167C>A (p.Pro1389=)
c.4845C>A (p.Pro1615=)
c.4494C>A (p.Pro1498=)
c.4794C>A (p.Pro1598=)
2g.120990507C>GCA428750708GLI2c.4542C>G (p.Pro1514=)
c.4593C>G (p.Pro1531=)
c.*3641C>G (n.*3641C>G)
c.*2544-83C>G (n.*2544-83C>G)
c.*3692C>G (n.*3692C>G)
c.*2493-83C>G (n.*2493-83C>G)
c.4575C>G (p.Pro1525=)
c.4452C>G (p.Pro1484=)
c.4398C>G (p.Pro1466=)
c.4218C>G (p.Pro1406=)
c.4167C>G (p.Pro1389=)
c.4845C>G (p.Pro1615=)
c.4494C>G (p.Pro1498=)
c.4794C>G (p.Pro1598=)
2g.120990507C>TCA428750709GLI2c.4542C>T (p.Pro1514=)
c.4593C>T (p.Pro1531=)
c.*3641C>T (n.*3641C>T)
c.*2544-83C>T (n.*2544-83C>T)
c.*3692C>T (n.*3692C>T)
c.*2493-83C>T (n.*2493-83C>T)
c.4575C>T (p.Pro1525=)
c.4452C>T (p.Pro1484=)
c.4398C>T (p.Pro1466=)
c.4218C>T (p.Pro1406=)
c.4167C>T (p.Pro1389=)
c.4845C>T (p.Pro1615=)
c.4494C>T (p.Pro1498=)
c.4794C>T (p.Pro1598=)
 gnomAD v4
2g.120990508A>CCA348180064GLI2c.4543A>C (p.Ser1515Arg)
c.4594A>C (p.Ser1532Arg)
c.*3642A>C (n.*3642A>C)
c.*2544-82A>C (n.*2544-82A>C)
c.*3693A>C (n.*3693A>C)
c.*2493-82A>C (n.*2493-82A>C)
c.4576A>C (p.Ser1526Arg)
c.4453A>C (p.Ser1485Arg)
c.4399A>C (p.Ser1467Arg)
c.4219A>C (p.Ser1407Arg)
c.4168A>C (p.Ser1390Arg)
c.4846A>C (p.Ser1616Arg)
c.4495A>C (p.Ser1499Arg)
c.4795A>C (p.Ser1599Arg)
2g.120990508A>GCA348180065GLI2c.4543A>G (p.Ser1515Gly)
c.4594A>G (p.Ser1532Gly)
c.*3642A>G (n.*3642A>G)
c.*2544-82A>G (n.*2544-82A>G)
c.*3693A>G (n.*3693A>G)
c.*2493-82A>G (n.*2493-82A>G)
c.4576A>G (p.Ser1526Gly)
c.4453A>G (p.Ser1485Gly)
c.4399A>G (p.Ser1467Gly)
c.4219A>G (p.Ser1407Gly)
c.4168A>G (p.Ser1390Gly)
c.4846A>G (p.Ser1616Gly)
c.4495A>G (p.Ser1499Gly)
c.4795A>G (p.Ser1599Gly)
2g.120990508A>TCA348180066GLI2c.4543A>T (p.Ser1515Cys)
c.4594A>T (p.Ser1532Cys)
c.*3642A>T (n.*3642A>T)
c.*2544-82A>T (n.*2544-82A>T)
c.*3693A>T (n.*3693A>T)
c.*2493-82A>T (n.*2493-82A>T)
c.4576A>T (p.Ser1526Cys)
c.4453A>T (p.Ser1485Cys)
c.4399A>T (p.Ser1467Cys)
c.4219A>T (p.Ser1407Cys)
c.4168A>T (p.Ser1390Cys)
c.4846A>T (p.Ser1616Cys)
c.4495A>T (p.Ser1499Cys)
c.4795A>T (p.Ser1599Cys)
2g.120990509G>ACA348180067GLI2c.4544G>A (p.Ser1515Asn)
c.4595G>A (p.Ser1532Asn)
c.*3643G>A (n.*3643G>A)
c.*2544-81G>A (n.*2544-81G>A)
c.*3694G>A (n.*3694G>A)
c.*2493-81G>A (n.*2493-81G>A)
c.4577G>A (p.Ser1526Asn)
c.4454G>A (p.Ser1485Asn)
c.4400G>A (p.Ser1467Asn)
c.4220G>A (p.Ser1407Asn)
c.4169G>A (p.Ser1390Asn)
c.4847G>A (p.Ser1616Asn)
c.4496G>A (p.Ser1499Asn)
c.4796G>A (p.Ser1599Asn)
2g.120990509G>CCA348180068GLI2c.4544G>C (p.Ser1515Thr)
c.4595G>C (p.Ser1532Thr)
c.*3643G>C (n.*3643G>C)
c.*2544-81G>C (n.*2544-81G>C)
c.*3694G>C (n.*3694G>C)
c.*2493-81G>C (n.*2493-81G>C)
c.4577G>C (p.Ser1526Thr)
c.4454G>C (p.Ser1485Thr)
c.4400G>C (p.Ser1467Thr)
c.4220G>C (p.Ser1407Thr)
c.4169G>C (p.Ser1390Thr)
c.4847G>C (p.Ser1616Thr)
c.4496G>C (p.Ser1499Thr)
c.4796G>C (p.Ser1599Thr)
2g.120990509G>TCA348180069GLI2c.4544G>T (p.Ser1515Ile)
c.4595G>T (p.Ser1532Ile)
c.*3643G>T (n.*3643G>T)
c.*2544-81G>T (n.*2544-81G>T)
c.*3694G>T (n.*3694G>T)
c.*2493-81G>T (n.*2493-81G>T)
c.4577G>T (p.Ser1526Ile)
c.4454G>T (p.Ser1485Ile)
c.4400G>T (p.Ser1467Ile)
c.4220G>T (p.Ser1407Ile)
c.4169G>T (p.Ser1390Ile)
c.4847G>T (p.Ser1616Ile)
c.4496G>T (p.Ser1499Ile)
c.4796G>T (p.Ser1599Ile)
2g.120990510C>ACA348180071GLI2c.4545C>A (p.Ser1515Arg)
c.4596C>A (p.Ser1532Arg)
c.*3644C>A (n.*3644C>A)
c.*2544-80C>A (n.*2544-80C>A)
c.*3695C>A (n.*3695C>A)
c.*2493-80C>A (n.*2493-80C>A)
c.4578C>A (p.Ser1526Arg)
c.4455C>A (p.Ser1485Arg)
c.4401C>A (p.Ser1467Arg)
c.4221C>A (p.Ser1407Arg)
c.4170C>A (p.Ser1390Arg)
c.4848C>A (p.Ser1616Arg)
c.4497C>A (p.Ser1499Arg)
c.4797C>A (p.Ser1599Arg)
2g.120990510C>GCA348180070GLI2c.4545C>G (p.Ser1515Arg)
c.4596C>G (p.Ser1532Arg)
c.*3644C>G (n.*3644C>G)
c.*2544-80C>G (n.*2544-80C>G)
c.*3695C>G (n.*3695C>G)
c.*2493-80C>G (n.*2493-80C>G)
c.4578C>G (p.Ser1526Arg)
c.4455C>G (p.Ser1485Arg)
c.4401C>G (p.Ser1467Arg)
c.4221C>G (p.Ser1407Arg)
c.4170C>G (p.Ser1390Arg)
c.4848C>G (p.Ser1616Arg)
c.4497C>G (p.Ser1499Arg)
c.4797C>G (p.Ser1599Arg)
2g.120990510C>TCA428750710GLI2c.4545C>T (p.Ser1515=)
c.4596C>T (p.Ser1532=)
c.*3644C>T (n.*3644C>T)
c.*2544-80C>T (n.*2544-80C>T)
c.*3695C>T (n.*3695C>T)
c.*2493-80C>T (n.*2493-80C>T)
c.4578C>T (p.Ser1526=)
c.4455C>T (p.Ser1485=)
c.4401C>T (p.Ser1467=)
c.4221C>T (p.Ser1407=)
c.4170C>T (p.Ser1390=)
c.4848C>T (p.Ser1616=)
c.4497C>T (p.Ser1499=)
c.4797C>T (p.Ser1599=)
 gnomAD v4
2g.120990511C>ACA348180072GLI2c.4546C>A (p.Leu1516Ile)
c.4597C>A (p.Leu1533Ile)
c.*3645C>A (n.*3645C>A)
c.*2544-79C>A (n.*2544-79C>A)
c.*3696C>A (n.*3696C>A)
c.*2493-79C>A (n.*2493-79C>A)
c.4579C>A (p.Leu1527Ile)
c.4456C>A (p.Leu1486Ile)
c.4402C>A (p.Leu1468Ile)
c.4222C>A (p.Leu1408Ile)
c.4171C>A (p.Leu1391Ile)
c.4849C>A (p.Leu1617Ile)
c.4498C>A (p.Leu1500Ile)
c.4798C>A (p.Leu1600Ile)
2g.120990511C>GCA348180073GLI2c.4546C>G (p.Leu1516Val)
c.4597C>G (p.Leu1533Val)
c.*3645C>G (n.*3645C>G)
c.*2544-79C>G (n.*2544-79C>G)
c.*3696C>G (n.*3696C>G)
c.*2493-79C>G (n.*2493-79C>G)
c.4579C>G (p.Leu1527Val)
c.4456C>G (p.Leu1486Val)
c.4402C>G (p.Leu1468Val)
c.4222C>G (p.Leu1408Val)
c.4171C>G (p.Leu1391Val)
c.4849C>G (p.Leu1617Val)
c.4498C>G (p.Leu1500Val)
c.4798C>G (p.Leu1600Val)
2g.120990511C>TCA348180074GLI2c.4546C>T (p.Leu1516Phe)
c.4597C>T (p.Leu1533Phe)
c.*3645C>T (n.*3645C>T)
c.*2544-79C>T (n.*2544-79C>T)
c.*3696C>T (n.*3696C>T)
c.*2493-79C>T (n.*2493-79C>T)
c.4579C>T (p.Leu1527Phe)
c.4456C>T (p.Leu1486Phe)
c.4402C>T (p.Leu1468Phe)
c.4222C>T (p.Leu1408Phe)
c.4171C>T (p.Leu1391Phe)
c.4849C>T (p.Leu1617Phe)
c.4498C>T (p.Leu1500Phe)
c.4798C>T (p.Leu1600Phe)
2g.120990512T>ACA348180075GLI2c.4547T>A (p.Leu1516His)
c.4598T>A (p.Leu1533His)
c.*3646T>A (n.*3646T>A)
c.*2544-78T>A (n.*2544-78T>A)
c.*3697T>A (n.*3697T>A)
c.*2493-78T>A (n.*2493-78T>A)
c.4580T>A (p.Leu1527His)
c.4457T>A (p.Leu1486His)
c.4403T>A (p.Leu1468His)
c.4223T>A (p.Leu1408His)
c.4172T>A (p.Leu1391His)
c.4850T>A (p.Leu1617His)
c.4499T>A (p.Leu1500His)
c.4799T>A (p.Leu1600His)
2g.120990512T>CCA54386513GLI2c.4547T>C (p.Leu1516Pro)
c.4598T>C (p.Leu1533Pro)
c.*3646T>C (n.*3646T>C)
c.*2544-78T>C (n.*2544-78T>C)
c.*3697T>C (n.*3697T>C)
c.*2493-78T>C (n.*2493-78T>C)
c.4580T>C (p.Leu1527Pro)
c.4457T>C (p.Leu1486Pro)
c.4403T>C (p.Leu1468Pro)
c.4223T>C (p.Leu1408Pro)
c.4172T>C (p.Leu1391Pro)
c.4850T>C (p.Leu1617Pro)
c.4499T>C (p.Leu1500Pro)
c.4799T>C (p.Leu1600Pro)
 dbSNP gnomAD v4
2g.120990512T>GCA348180076GLI2c.4547T>G (p.Leu1516Arg)
c.4598T>G (p.Leu1533Arg)
c.*3646T>G (n.*3646T>G)
c.*2544-78T>G (n.*2544-78T>G)
c.*3697T>G (n.*3697T>G)
c.*2493-78T>G (n.*2493-78T>G)
c.4580T>G (p.Leu1527Arg)
c.4457T>G (p.Leu1486Arg)
c.4403T>G (p.Leu1468Arg)
c.4223T>G (p.Leu1408Arg)
c.4172T>G (p.Leu1391Arg)
c.4850T>G (p.Leu1617Arg)
c.4499T>G (p.Leu1500Arg)
c.4799T>G (p.Leu1600Arg)
2g.120990512T=CA1283796153GLI2c.4547T= (p.Leu1516=)
c.4598T= (p.Leu1533=)
c.*3646T= (n.*3646T=)
c.*2544-78T= (n.*2544-78T=)
c.*3697T= (n.*3697T=)
c.*2493-78T= (n.*2493-78T=)
c.4580T= (p.Leu1527=)
c.4457T= (p.Leu1486=)
c.4403T= (p.Leu1468=)
c.4223T= (p.Leu1408=)
c.4172T= (p.Leu1391=)
c.4850T= (p.Leu1617=)
c.4499T= (p.Leu1500=)
c.4799T= (p.Leu1600=)
2g.120990513C>ACA428750711GLI2c.4548C>A (p.Leu1516=)
c.4599C>A (p.Leu1533=)
c.*3647C>A (n.*3647C>A)
c.*2544-77C>A (n.*2544-77C>A)
c.*3698C>A (n.*3698C>A)
c.*2493-77C>A (n.*2493-77C>A)
c.4581C>A (p.Leu1527=)
c.4458C>A (p.Leu1486=)
c.4404C>A (p.Leu1468=)
c.4224C>A (p.Leu1408=)
c.4173C>A (p.Leu1391=)
c.4851C>A (p.Leu1617=)
c.4500C>A (p.Leu1500=)
c.4800C>A (p.Leu1600=)
2g.120990513C>GCA428750713GLI2c.4548C>G (p.Leu1516=)
c.4599C>G (p.Leu1533=)
c.*3647C>G (n.*3647C>G)
c.*2544-77C>G (n.*2544-77C>G)
c.*3698C>G (n.*3698C>G)
c.*2493-77C>G (n.*2493-77C>G)
c.4581C>G (p.Leu1527=)
c.4458C>G (p.Leu1486=)
c.4404C>G (p.Leu1468=)
c.4224C>G (p.Leu1408=)
c.4173C>G (p.Leu1391=)
c.4851C>G (p.Leu1617=)
c.4500C>G (p.Leu1500=)
c.4800C>G (p.Leu1600=)
2g.120990513C>TCA428750712GLI2c.4548C>T (p.Leu1516=)
c.4599C>T (p.Leu1533=)
c.*3647C>T (n.*3647C>T)
c.*2544-77C>T (n.*2544-77C>T)
c.*3698C>T (n.*3698C>T)
c.*2493-77C>T (n.*2493-77C>T)
c.4581C>T (p.Leu1527=)
c.4458C>T (p.Leu1486=)
c.4404C>T (p.Leu1468=)
c.4224C>T (p.Leu1408=)
c.4173C>T (p.Leu1391=)
c.4851C>T (p.Leu1617=)
c.4500C>T (p.Leu1500=)
c.4800C>T (p.Leu1600=)
2g.120990514C>ACA1852664GLI2c.4549C>A (p.Leu1517Ile)
c.4600C>A (p.Leu1534Ile)
c.*3648C>A (n.*3648C>A)
c.*2544-76C>A (n.*2544-76C>A)
c.*3699C>A (n.*3699C>A)
c.*2493-76C>A (n.*2493-76C>A)
c.4582C>A (p.Leu1528Ile)
c.4459C>A (p.Leu1487Ile)
c.4405C>A (p.Leu1469Ile)
c.4225C>A (p.Leu1409Ile)
c.4174C>A (p.Leu1392Ile)
c.4852C>A (p.Leu1618Ile)
c.4501C>A (p.Leu1501Ile)
c.4801C>A (p.Leu1601Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120990514C=CA1283796154GLI2c.4549C= (p.Leu1517=)
c.4600C= (p.Leu1534=)
c.*3648C= (n.*3648C=)
c.*2544-76C= (n.*2544-76C=)
c.*3699C= (n.*3699C=)
c.*2493-76C= (n.*2493-76C=)
c.4582C= (p.Leu1528=)
c.4459C= (p.Leu1487=)
c.4405C= (p.Leu1469=)
c.4225C= (p.Leu1409=)
c.4174C= (p.Leu1392=)
c.4852C= (p.Leu1618=)
c.4501C= (p.Leu1501=)
c.4801C= (p.Leu1601=)
2g.120990514C>GCA348180077GLI2c.4549C>G (p.Leu1517Val)
c.4600C>G (p.Leu1534Val)
c.*3648C>G (n.*3648C>G)
c.*2544-76C>G (n.*2544-76C>G)
c.*3699C>G (n.*3699C>G)
c.*2493-76C>G (n.*2493-76C>G)
c.4582C>G (p.Leu1528Val)
c.4459C>G (p.Leu1487Val)
c.4405C>G (p.Leu1469Val)
c.4225C>G (p.Leu1409Val)
c.4174C>G (p.Leu1392Val)
c.4852C>G (p.Leu1618Val)
c.4501C>G (p.Leu1501Val)
c.4801C>G (p.Leu1601Val)
2g.120990514C>TCA348180078GLI2c.4549C>T (p.Leu1517Phe)
c.4600C>T (p.Leu1534Phe)
c.*3648C>T (n.*3648C>T)
c.*2544-76C>T (n.*2544-76C>T)
c.*3699C>T (n.*3699C>T)
c.*2493-76C>T (n.*2493-76C>T)
c.4582C>T (p.Leu1528Phe)
c.4459C>T (p.Leu1487Phe)
c.4405C>T (p.Leu1469Phe)
c.4225C>T (p.Leu1409Phe)
c.4174C>T (p.Leu1392Phe)
c.4852C>T (p.Leu1618Phe)
c.4501C>T (p.Leu1501Phe)
c.4801C>T (p.Leu1601Phe)
 dbSNP gnomAD v4
2g.120990515T>ACA348180079GLI2c.4550T>A (p.Leu1517His)
c.4601T>A (p.Leu1534His)
c.*3649T>A (n.*3649T>A)
c.*2544-75T>A (n.*2544-75T>A)
c.*3700T>A (n.*3700T>A)
c.*2493-75T>A (n.*2493-75T>A)
c.4583T>A (p.Leu1528His)
c.4460T>A (p.Leu1487His)
c.4406T>A (p.Leu1469His)
c.4226T>A (p.Leu1409His)
c.4175T>A (p.Leu1392His)
c.4853T>A (p.Leu1618His)
c.4502T>A (p.Leu1501His)
c.4802T>A (p.Leu1601His)
2g.120990515T>CCA54386524GLI2c.4550T>C (p.Leu1517Pro)
c.4601T>C (p.Leu1534Pro)
c.*3649T>C (n.*3649T>C)
c.*2544-75T>C (n.*2544-75T>C)
c.*3700T>C (n.*3700T>C)
c.*2493-75T>C (n.*2493-75T>C)
c.4583T>C (p.Leu1528Pro)
c.4460T>C (p.Leu1487Pro)
c.4406T>C (p.Leu1469Pro)
c.4226T>C (p.Leu1409Pro)
c.4175T>C (p.Leu1392Pro)
c.4853T>C (p.Leu1618Pro)
c.4502T>C (p.Leu1501Pro)
c.4802T>C (p.Leu1601Pro)
 dbSNP
2g.120990515T>GCA348180080GLI2c.4550T>G (p.Leu1517Arg)
c.4601T>G (p.Leu1534Arg)
c.*3649T>G (n.*3649T>G)
c.*2544-75T>G (n.*2544-75T>G)
c.*3700T>G (n.*3700T>G)
c.*2493-75T>G (n.*2493-75T>G)
c.4583T>G (p.Leu1528Arg)
c.4460T>G (p.Leu1487Arg)
c.4406T>G (p.Leu1469Arg)
c.4226T>G (p.Leu1409Arg)
c.4175T>G (p.Leu1392Arg)
c.4853T>G (p.Leu1618Arg)
c.4502T>G (p.Leu1501Arg)
c.4802T>G (p.Leu1601Arg)
2g.120990515T=CA1283796155GLI2c.4550T= (p.Leu1517=)
c.4601T= (p.Leu1534=)
c.*3649T= (n.*3649T=)
c.*2544-75T= (n.*2544-75T=)
c.*3700T= (n.*3700T=)
c.*2493-75T= (n.*2493-75T=)
c.4583T= (p.Leu1528=)
c.4460T= (p.Leu1487=)
c.4406T= (p.Leu1469=)
c.4226T= (p.Leu1409=)
c.4175T= (p.Leu1392=)
c.4853T= (p.Leu1618=)
c.4502T= (p.Leu1501=)
c.4802T= (p.Leu1601=)
2g.120990516C>ACA428750718GLI2c.4551C>A (p.Leu1517=)
c.4602C>A (p.Leu1534=)
c.*3650C>A (n.*3650C>A)
c.*2544-74C>A (n.*2544-74C>A)
c.*3701C>A (n.*3701C>A)
c.*2493-74C>A (n.*2493-74C>A)
c.4584C>A (p.Leu1528=)
c.4461C>A (p.Leu1487=)
c.4407C>A (p.Leu1469=)
c.4227C>A (p.Leu1409=)
c.4176C>A (p.Leu1392=)
c.4854C>A (p.Leu1618=)
c.4503C>A (p.Leu1501=)
c.4803C>A (p.Leu1601=)
2g.120990516C>GCA428750716GLI2c.4551C>G (p.Leu1517=)
c.4602C>G (p.Leu1534=)
c.*3650C>G (n.*3650C>G)
c.*2544-74C>G (n.*2544-74C>G)
c.*3701C>G (n.*3701C>G)
c.*2493-74C>G (n.*2493-74C>G)
c.4584C>G (p.Leu1528=)
c.4461C>G (p.Leu1487=)
c.4407C>G (p.Leu1469=)
c.4227C>G (p.Leu1409=)
c.4176C>G (p.Leu1392=)
c.4854C>G (p.Leu1618=)
c.4503C>G (p.Leu1501=)
c.4803C>G (p.Leu1601=)
2g.120990516C>TCA428750715GLI2c.4551C>T (p.Leu1517=)
c.4602C>T (p.Leu1534=)
c.*3650C>T (n.*3650C>T)
c.*2544-74C>T (n.*2544-74C>T)
c.*3701C>T (n.*3701C>T)
c.*2493-74C>T (n.*2493-74C>T)
c.4584C>T (p.Leu1528=)
c.4461C>T (p.Leu1487=)
c.4407C>T (p.Leu1469=)
c.4227C>T (p.Leu1409=)
c.4176C>T (p.Leu1392=)
c.4854C>T (p.Leu1618=)
c.4503C>T (p.Leu1501=)
c.4803C>T (p.Leu1601=)
 gnomAD v4 COSMIC
2g.120990517C>ACA348180082GLI2c.4552C>A (p.His1518Asn)
c.4603C>A (p.His1535Asn)
c.*3651C>A (n.*3651C>A)
c.*2544-73C>A (n.*2544-73C>A)
c.*3702C>A (n.*3702C>A)
c.*2493-73C>A (n.*2493-73C>A)
c.4585C>A (p.His1529Asn)
c.4462C>A (p.His1488Asn)
c.4408C>A (p.His1470Asn)
c.4228C>A (p.His1410Asn)
c.4177C>A (p.His1393Asn)
c.4855C>A (p.His1619Asn)
c.4504C>A (p.His1502Asn)
c.4804C>A (p.His1602Asn)
 COSMIC
2g.120990517C=CA1283796156GLI2c.4552C= (p.His1518=)
c.4603C= (p.His1535=)
c.*3651C= (n.*3651C=)
c.*2544-73C= (n.*2544-73C=)
c.*3702C= (n.*3702C=)
c.*2493-73C= (n.*2493-73C=)
c.4585C= (p.His1529=)
c.4462C= (p.His1488=)
c.4408C= (p.His1470=)
c.4228C= (p.His1410=)
c.4177C= (p.His1393=)
c.4855C= (p.His1619=)
c.4504C= (p.His1502=)
c.4804C= (p.His1602=)
2g.120990517C>GCA348180083GLI2c.4552C>G (p.His1518Asp)
c.4603C>G (p.His1535Asp)
c.*3651C>G (n.*3651C>G)
c.*2544-73C>G (n.*2544-73C>G)
c.*3702C>G (n.*3702C>G)
c.*2493-73C>G (n.*2493-73C>G)
c.4585C>G (p.His1529Asp)
c.4462C>G (p.His1488Asp)
c.4408C>G (p.His1470Asp)
c.4228C>G (p.His1410Asp)
c.4177C>G (p.His1393Asp)
c.4855C>G (p.His1619Asp)
c.4504C>G (p.His1502Asp)
c.4804C>G (p.His1602Asp)
2g.120990517C>TCA348180081GLI2c.4552C>T (p.His1518Tyr)
c.4603C>T (p.His1535Tyr)
c.*3651C>T (n.*3651C>T)
c.*2544-73C>T (n.*2544-73C>T)
c.*3702C>T (n.*3702C>T)
c.*2493-73C>T (n.*2493-73C>T)
c.4585C>T (p.His1529Tyr)
c.4462C>T (p.His1488Tyr)
c.4408C>T (p.His1470Tyr)
c.4228C>T (p.His1410Tyr)
c.4177C>T (p.His1393Tyr)
c.4855C>T (p.His1619Tyr)
c.4504C>T (p.His1502Tyr)
c.4804C>T (p.His1602Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.120990518A>CCA348180084GLI2c.4553A>C (p.His1518Pro)
c.4604A>C (p.His1535Pro)
c.*3652A>C (n.*3652A>C)
c.*2544-72A>C (n.*2544-72A>C)
c.*3703A>C (n.*3703A>C)
c.*2493-72A>C (n.*2493-72A>C)
c.4586A>C (p.His1529Pro)
c.4463A>C (p.His1488Pro)
c.4409A>C (p.His1470Pro)
c.4229A>C (p.His1410Pro)
c.4178A>C (p.His1393Pro)
c.4856A>C (p.His1619Pro)
c.4505A>C (p.His1502Pro)
c.4805A>C (p.His1602Pro)
2g.120990518A>GCA348180085GLI2c.4553A>G (p.His1518Arg)
c.4604A>G (p.His1535Arg)
c.*3652A>G (n.*3652A>G)
c.*2544-72A>G (n.*2544-72A>G)
c.*3703A>G (n.*3703A>G)
c.*2493-72A>G (n.*2493-72A>G)
c.4586A>G (p.His1529Arg)
c.4463A>G (p.His1488Arg)
c.4409A>G (p.His1470Arg)
c.4229A>G (p.His1410Arg)
c.4178A>G (p.His1393Arg)
c.4856A>G (p.His1619Arg)
c.4505A>G (p.His1502Arg)
c.4805A>G (p.His1602Arg)
2g.120990518A>TCA348180086GLI2c.4553A>T (p.His1518Leu)
c.4604A>T (p.His1535Leu)
c.*3652A>T (n.*3652A>T)
c.*2544-72A>T (n.*2544-72A>T)
c.*3703A>T (n.*3703A>T)
c.*2493-72A>T (n.*2493-72A>T)
c.4586A>T (p.His1529Leu)
c.4463A>T (p.His1488Leu)
c.4409A>T (p.His1470Leu)
c.4229A>T (p.His1410Leu)
c.4178A>T (p.His1393Leu)
c.4856A>T (p.His1619Leu)
c.4505A>T (p.His1502Leu)
c.4805A>T (p.His1602Leu)
2g.120990519C>ACA348180087GLI2c.4554C>A (p.His1518Gln)
c.4605C>A (p.His1535Gln)
c.*3653C>A (n.*3653C>A)
c.*2544-71C>A (n.*2544-71C>A)
c.*3704C>A (n.*3704C>A)
c.*2493-71C>A (n.*2493-71C>A)
c.4587C>A (p.His1529Gln)
c.4464C>A (p.His1488Gln)
c.4410C>A (p.His1470Gln)
c.4230C>A (p.His1410Gln)
c.4179C>A (p.His1393Gln)
c.4857C>A (p.His1619Gln)
c.4506C>A (p.His1502Gln)
c.4806C>A (p.His1602Gln)
2g.120990519C>GCA348180088GLI2c.4554C>G (p.His1518Gln)
c.4605C>G (p.His1535Gln)
c.*3653C>G (n.*3653C>G)
c.*2544-71C>G (n.*2544-71C>G)
c.*3704C>G (n.*3704C>G)
c.*2493-71C>G (n.*2493-71C>G)
c.4587C>G (p.His1529Gln)
c.4464C>G (p.His1488Gln)
c.4410C>G (p.His1470Gln)
c.4230C>G (p.His1410Gln)
c.4179C>G (p.His1393Gln)
c.4857C>G (p.His1619Gln)
c.4506C>G (p.His1502Gln)
c.4806C>G (p.His1602Gln)
2g.120990519C>TCA428750721GLI2c.4554C>T (p.His1518=)
c.4605C>T (p.His1535=)
c.*3653C>T (n.*3653C>T)
c.*2544-71C>T (n.*2544-71C>T)
c.*3704C>T (n.*3704C>T)
c.*2493-71C>T (n.*2493-71C>T)
c.4587C>T (p.His1529=)
c.4464C>T (p.His1488=)
c.4410C>T (p.His1470=)
c.4230C>T (p.His1410=)
c.4179C>T (p.His1393=)
c.4857C>T (p.His1619=)
c.4506C>T (p.His1502=)
c.4806C>T (p.His1602=)
2g.120990520A>CCA348180089GLI2c.4555A>C (p.Ser1519Arg)
c.4606A>C (p.Ser1536Arg)
c.*3654A>C (n.*3654A>C)
c.*2544-70A>C (n.*2544-70A>C)
c.*3705A>C (n.*3705A>C)
c.*2493-70A>C (n.*2493-70A>C)
c.4588A>C (p.Ser1530Arg)
c.4465A>C (p.Ser1489Arg)
c.4411A>C (p.Ser1471Arg)
c.4231A>C (p.Ser1411Arg)
c.4180A>C (p.Ser1394Arg)
c.4858A>C (p.Ser1620Arg)
c.4507A>C (p.Ser1503Arg)
c.4807A>C (p.Ser1603Arg)
2g.120990520A>GCA348180090GLI2c.4555A>G (p.Ser1519Gly)
c.4606A>G (p.Ser1536Gly)
c.*3654A>G (n.*3654A>G)
c.*2544-70A>G (n.*2544-70A>G)
c.*3705A>G (n.*3705A>G)
c.*2493-70A>G (n.*2493-70A>G)
c.4588A>G (p.Ser1530Gly)
c.4465A>G (p.Ser1489Gly)
c.4411A>G (p.Ser1471Gly)
c.4231A>G (p.Ser1411Gly)
c.4180A>G (p.Ser1394Gly)
c.4858A>G (p.Ser1620Gly)
c.4507A>G (p.Ser1503Gly)
c.4807A>G (p.Ser1603Gly)
2g.120990520A>TCA348180091GLI2c.4555A>T (p.Ser1519Cys)
c.4606A>T (p.Ser1536Cys)
c.*3654A>T (n.*3654A>T)
c.*2544-70A>T (n.*2544-70A>T)
c.*3705A>T (n.*3705A>T)
c.*2493-70A>T (n.*2493-70A>T)
c.4588A>T (p.Ser1530Cys)
c.4465A>T (p.Ser1489Cys)
c.4411A>T (p.Ser1471Cys)
c.4231A>T (p.Ser1411Cys)
c.4180A>T (p.Ser1394Cys)
c.4858A>T (p.Ser1620Cys)
c.4507A>T (p.Ser1503Cys)
c.4807A>T (p.Ser1603Cys)
2g.120990521G>ACA348180092GLI2c.4556G>A (p.Ser1519Asn)
c.4607G>A (p.Ser1536Asn)
c.*3655G>A (n.*3655G>A)
c.*2544-69G>A (n.*2544-69G>A)
c.*3706G>A (n.*3706G>A)
c.*2493-69G>A (n.*2493-69G>A)
c.4589G>A (p.Ser1530Asn)
c.4466G>A (p.Ser1489Asn)
c.4412G>A (p.Ser1471Asn)
c.4232G>A (p.Ser1411Asn)
c.4181G>A (p.Ser1394Asn)
c.4859G>A (p.Ser1620Asn)
c.4508G>A (p.Ser1503Asn)
c.4808G>A (p.Ser1603Asn)
2g.120990521G>CCA348180093GLI2c.4556G>C (p.Ser1519Thr)
c.4607G>C (p.Ser1536Thr)
c.*3655G>C (n.*3655G>C)
c.*2544-69G>C (n.*2544-69G>C)
c.*3706G>C (n.*3706G>C)
c.*2493-69G>C (n.*2493-69G>C)
c.4589G>C (p.Ser1530Thr)
c.4466G>C (p.Ser1489Thr)
c.4412G>C (p.Ser1471Thr)
c.4232G>C (p.Ser1411Thr)
c.4181G>C (p.Ser1394Thr)
c.4859G>C (p.Ser1620Thr)
c.4508G>C (p.Ser1503Thr)
c.4808G>C (p.Ser1603Thr)
2g.120990521G>TCA348180094GLI2c.4556G>T (p.Ser1519Ile)
c.4607G>T (p.Ser1536Ile)
c.*3655G>T (n.*3655G>T)
c.*2544-69G>T (n.*2544-69G>T)
c.*3706G>T (n.*3706G>T)
c.*2493-69G>T (n.*2493-69G>T)
c.4589G>T (p.Ser1530Ile)
c.4466G>T (p.Ser1489Ile)
c.4412G>T (p.Ser1471Ile)
c.4232G>T (p.Ser1411Ile)
c.4181G>T (p.Ser1394Ile)
c.4859G>T (p.Ser1620Ile)
c.4508G>T (p.Ser1503Ile)
c.4808G>T (p.Ser1603Ile)
2g.120990522C>ACA348180095GLI2c.4557C>A (p.Ser1519Arg)
c.4608C>A (p.Ser1536Arg)
c.*3656C>A (n.*3656C>A)
c.*2544-68C>A (n.*2544-68C>A)
c.*3707C>A (n.*3707C>A)
c.*2493-68C>A (n.*2493-68C>A)
c.4590C>A (p.Ser1530Arg)
c.4467C>A (p.Ser1489Arg)
c.4413C>A (p.Ser1471Arg)
c.4233C>A (p.Ser1411Arg)
c.4182C>A (p.Ser1394Arg)
c.4860C>A (p.Ser1620Arg)
c.4509C>A (p.Ser1503Arg)
c.4809C>A (p.Ser1603Arg)
2g.120990522C>GCA348180096GLI2c.4557C>G (p.Ser1519Arg)
c.4608C>G (p.Ser1536Arg)
c.*3656C>G (n.*3656C>G)
c.*2544-68C>G (n.*2544-68C>G)
c.*3707C>G (n.*3707C>G)
c.*2493-68C>G (n.*2493-68C>G)
c.4590C>G (p.Ser1530Arg)
c.4467C>G (p.Ser1489Arg)
c.4413C>G (p.Ser1471Arg)
c.4233C>G (p.Ser1411Arg)
c.4182C>G (p.Ser1394Arg)
c.4860C>G (p.Ser1620Arg)
c.4509C>G (p.Ser1503Arg)
c.4809C>G (p.Ser1603Arg)
2g.120990522C>TCA428750722GLI2c.4557C>T (p.Ser1519=)
c.4608C>T (p.Ser1536=)
c.*3656C>T (n.*3656C>T)
c.*2544-68C>T (n.*2544-68C>T)
c.*3707C>T (n.*3707C>T)
c.*2493-68C>T (n.*2493-68C>T)
c.4590C>T (p.Ser1530=)
c.4467C>T (p.Ser1489=)
c.4413C>T (p.Ser1471=)
c.4233C>T (p.Ser1411=)
c.4182C>T (p.Ser1394=)
c.4860C>T (p.Ser1620=)
c.4509C>T (p.Ser1503=)
c.4809C>T (p.Ser1603=)
2g.120990523C>ACA348180099GLI2c.4558C>A (p.Leu1520Ile)
c.4609C>A (p.Leu1537Ile)
c.*3657C>A (n.*3657C>A)
c.*2544-67C>A (n.*2544-67C>A)
c.*3708C>A (n.*3708C>A)
c.*2493-67C>A (n.*2493-67C>A)
c.4591C>A (p.Leu1531Ile)
c.4468C>A (p.Leu1490Ile)
c.4414C>A (p.Leu1472Ile)
c.4234C>A (p.Leu1412Ile)
c.4183C>A (p.Leu1395Ile)
c.4861C>A (p.Leu1621Ile)
c.4510C>A (p.Leu1504Ile)
c.4810C>A (p.Leu1604Ile)
2g.120990523C=CA1283796157GLI2c.4558C= (p.Leu1520=)
c.4609C= (p.Leu1537=)
c.*3657C= (n.*3657C=)
c.*2544-67C= (n.*2544-67C=)
c.*3708C= (n.*3708C=)
c.*2493-67C= (n.*2493-67C=)
c.4591C= (p.Leu1531=)
c.4468C= (p.Leu1490=)
c.4414C= (p.Leu1472=)
c.4234C= (p.Leu1412=)
c.4183C= (p.Leu1395=)
c.4861C= (p.Leu1621=)
c.4510C= (p.Leu1504=)
c.4810C= (p.Leu1604=)
2g.120990523C>GCA348180098GLI2c.4558C>G (p.Leu1520Val)
c.4609C>G (p.Leu1537Val)
c.*3657C>G (n.*3657C>G)
c.*2544-67C>G (n.*2544-67C>G)
c.*3708C>G (n.*3708C>G)
c.*2493-67C>G (n.*2493-67C>G)
c.4591C>G (p.Leu1531Val)
c.4468C>G (p.Leu1490Val)
c.4414C>G (p.Leu1472Val)
c.4234C>G (p.Leu1412Val)
c.4183C>G (p.Leu1395Val)
c.4861C>G (p.Leu1621Val)
c.4510C>G (p.Leu1504Val)
c.4810C>G (p.Leu1604Val)
 dbSNP
2g.120990523C>TCA348180097GLI2c.4558C>T (p.Leu1520Phe)
c.4609C>T (p.Leu1537Phe)
c.*3657C>T (n.*3657C>T)
c.*2544-67C>T (n.*2544-67C>T)
c.*3708C>T (n.*3708C>T)
c.*2493-67C>T (n.*2493-67C>T)
c.4591C>T (p.Leu1531Phe)
c.4468C>T (p.Leu1490Phe)
c.4414C>T (p.Leu1472Phe)
c.4234C>T (p.Leu1412Phe)
c.4183C>T (p.Leu1395Phe)
c.4861C>T (p.Leu1621Phe)
c.4510C>T (p.Leu1504Phe)
c.4810C>T (p.Leu1604Phe)
2g.120990524T>ACA348180100GLI2c.4559T>A (p.Leu1520His)
c.4610T>A (p.Leu1537His)
c.*3658T>A (n.*3658T>A)
c.*2544-66T>A (n.*2544-66T>A)
c.*3709T>A (n.*3709T>A)
c.*2493-66T>A (n.*2493-66T>A)
c.4592T>A (p.Leu1531His)
c.4469T>A (p.Leu1490His)
c.4415T>A (p.Leu1472His)
c.4235T>A (p.Leu1412His)
c.4184T>A (p.Leu1395His)
c.4862T>A (p.Leu1621His)
c.4511T>A (p.Leu1504His)
c.4811T>A (p.Leu1604His)
2g.120990524T>CCA348180101GLI2c.4559T>C (p.Leu1520Pro)
c.4610T>C (p.Leu1537Pro)
c.*3658T>C (n.*3658T>C)
c.*2544-66T>C (n.*2544-66T>C)
c.*3709T>C (n.*3709T>C)
c.*2493-66T>C (n.*2493-66T>C)
c.4592T>C (p.Leu1531Pro)
c.4469T>C (p.Leu1490Pro)
c.4415T>C (p.Leu1472Pro)
c.4235T>C (p.Leu1412Pro)
c.4184T>C (p.Leu1395Pro)
c.4862T>C (p.Leu1621Pro)
c.4511T>C (p.Leu1504Pro)
c.4811T>C (p.Leu1604Pro)
2g.120990524T>GCA348180102GLI2c.4559T>G (p.Leu1520Arg)
c.4610T>G (p.Leu1537Arg)
c.*3658T>G (n.*3658T>G)
c.*2544-66T>G (n.*2544-66T>G)
c.*3709T>G (n.*3709T>G)
c.*2493-66T>G (n.*2493-66T>G)
c.4592T>G (p.Leu1531Arg)
c.4469T>G (p.Leu1490Arg)
c.4415T>G (p.Leu1472Arg)
c.4235T>G (p.Leu1412Arg)
c.4184T>G (p.Leu1395Arg)
c.4862T>G (p.Leu1621Arg)
c.4511T>G (p.Leu1504Arg)
c.4811T>G (p.Leu1604Arg)
2g.120990525C>ACA428750723GLI2c.4560C>A (p.Leu1520=)
c.4611C>A (p.Leu1537=)
c.*3659C>A (n.*3659C>A)
c.*2544-65C>A (n.*2544-65C>A)
c.*3710C>A (n.*3710C>A)
c.*2493-65C>A (n.*2493-65C>A)
c.4593C>A (p.Leu1531=)
c.4470C>A (p.Leu1490=)
c.4416C>A (p.Leu1472=)
c.4236C>A (p.Leu1412=)
c.4185C>A (p.Leu1395=)
c.4863C>A (p.Leu1621=)
c.4512C>A (p.Leu1504=)
c.4812C>A (p.Leu1604=)
 ClinVar dbSNP gnomAD v4
2g.120990525C=CA1283796158GLI2c.4560C= (p.Leu1520=)
c.4611C= (p.Leu1537=)
c.*3659C= (n.*3659C=)
c.*2544-65C= (n.*2544-65C=)
c.*3710C= (n.*3710C=)
c.*2493-65C= (n.*2493-65C=)
c.4593C= (p.Leu1531=)
c.4470C= (p.Leu1490=)
c.4416C= (p.Leu1472=)
c.4236C= (p.Leu1412=)
c.4185C= (p.Leu1395=)
c.4863C= (p.Leu1621=)
c.4512C= (p.Leu1504=)
c.4812C= (p.Leu1604=)
2g.120990525C>GCA428750724GLI2c.4560C>G (p.Leu1520=)
c.4611C>G (p.Leu1537=)
c.*3659C>G (n.*3659C>G)
c.*2544-65C>G (n.*2544-65C>G)
c.*3710C>G (n.*3710C>G)
c.*2493-65C>G (n.*2493-65C>G)
c.4593C>G (p.Leu1531=)
c.4470C>G (p.Leu1490=)
c.4416C>G (p.Leu1472=)
c.4236C>G (p.Leu1412=)
c.4185C>G (p.Leu1395=)
c.4863C>G (p.Leu1621=)
c.4512C>G (p.Leu1504=)
c.4812C>G (p.Leu1604=)
2g.120990525C>TCA428750725GLI2c.4560C>T (p.Leu1520=)
c.4611C>T (p.Leu1537=)
c.*3659C>T (n.*3659C>T)
c.*2544-65C>T (n.*2544-65C>T)
c.*3710C>T (n.*3710C>T)
c.*2493-65C>T (n.*2493-65C>T)
c.4593C>T (p.Leu1531=)
c.4470C>T (p.Leu1490=)
c.4416C>T (p.Leu1472=)
c.4236C>T (p.Leu1412=)
c.4185C>T (p.Leu1395=)
c.4863C>T (p.Leu1621=)
c.4512C>T (p.Leu1504=)
c.4812C>T (p.Leu1604=)
 ClinVar dbSNP gnomAD v4
2g.120990526T>ACA348180103GLI2c.4561T>A (p.Ser1521Thr)
c.4612T>A (p.Ser1538Thr)
c.*3660T>A (n.*3660T>A)
c.*2544-64T>A (n.*2544-64T>A)
c.*3711T>A (n.*3711T>A)
c.*2493-64T>A (n.*2493-64T>A)
c.4594T>A (p.Ser1532Thr)
c.4471T>A (p.Ser1491Thr)
c.4417T>A (p.Ser1473Thr)
c.4237T>A (p.Ser1413Thr)
c.4186T>A (p.Ser1396Thr)
c.4864T>A (p.Ser1622Thr)
c.4513T>A (p.Ser1505Thr)
c.4813T>A (p.Ser1605Thr)
2g.120990526T>CCA348180104GLI2c.4561T>C (p.Ser1521Pro)
c.4612T>C (p.Ser1538Pro)
c.*3660T>C (n.*3660T>C)
c.*2544-64T>C (n.*2544-64T>C)
c.*3711T>C (n.*3711T>C)
c.*2493-64T>C (n.*2493-64T>C)
c.4594T>C (p.Ser1532Pro)
c.4471T>C (p.Ser1491Pro)
c.4417T>C (p.Ser1473Pro)
c.4237T>C (p.Ser1413Pro)
c.4186T>C (p.Ser1396Pro)
c.4864T>C (p.Ser1622Pro)
c.4513T>C (p.Ser1505Pro)
c.4813T>C (p.Ser1605Pro)
 dbSNP gnomAD v2
2g.120990526T>GCA348180105GLI2c.4561T>G (p.Ser1521Ala)
c.4612T>G (p.Ser1538Ala)
c.*3660T>G (n.*3660T>G)
c.*2544-64T>G (n.*2544-64T>G)
c.*3711T>G (n.*3711T>G)
c.*2493-64T>G (n.*2493-64T>G)
c.4594T>G (p.Ser1532Ala)
c.4471T>G (p.Ser1491Ala)
c.4417T>G (p.Ser1473Ala)
c.4237T>G (p.Ser1413Ala)
c.4186T>G (p.Ser1396Ala)
c.4864T>G (p.Ser1622Ala)
c.4513T>G (p.Ser1505Ala)
c.4813T>G (p.Ser1605Ala)
2g.120990526T=CA1283796159GLI2c.4561T= (p.Ser1521=)
c.4612T= (p.Ser1538=)
c.*3660T= (n.*3660T=)
c.*2544-64T= (n.*2544-64T=)
c.*3711T= (n.*3711T=)
c.*2493-64T= (n.*2493-64T=)
c.4594T= (p.Ser1532=)
c.4471T= (p.Ser1491=)
c.4417T= (p.Ser1473=)
c.4237T= (p.Ser1413=)
c.4186T= (p.Ser1396=)
c.4864T= (p.Ser1622=)
c.4513T= (p.Ser1505=)
c.4813T= (p.Ser1605=)
2g.120990527C>ACA348180106GLI2c.4562C>A (p.Ser1521Tyr)
c.4613C>A (p.Ser1538Tyr)
c.*3661C>A (n.*3661C>A)
c.*2544-63C>A (n.*2544-63C>A)
c.*3712C>A (n.*3712C>A)
c.*2493-63C>A (n.*2493-63C>A)
c.4595C>A (p.Ser1532Tyr)
c.4472C>A (p.Ser1491Tyr)
c.4418C>A (p.Ser1473Tyr)
c.4238C>A (p.Ser1413Tyr)
c.4187C>A (p.Ser1396Tyr)
c.4865C>A (p.Ser1622Tyr)
c.4514C>A (p.Ser1505Tyr)
c.4814C>A (p.Ser1605Tyr)
2g.120990527C>GCA348180107GLI2c.4562C>G (p.Ser1521Cys)
c.4613C>G (p.Ser1538Cys)
c.*3661C>G (n.*3661C>G)
c.*2544-63C>G (n.*2544-63C>G)
c.*3712C>G (n.*3712C>G)
c.*2493-63C>G (n.*2493-63C>G)
c.4595C>G (p.Ser1532Cys)
c.4472C>G (p.Ser1491Cys)
c.4418C>G (p.Ser1473Cys)
c.4238C>G (p.Ser1413Cys)
c.4187C>G (p.Ser1396Cys)
c.4865C>G (p.Ser1622Cys)
c.4514C>G (p.Ser1505Cys)
c.4814C>G (p.Ser1605Cys)
2g.120990527C>TCA348180108GLI2c.4562C>T (p.Ser1521Phe)
c.4613C>T (p.Ser1538Phe)
c.*3661C>T (n.*3661C>T)
c.*2544-63C>T (n.*2544-63C>T)
c.*3712C>T (n.*3712C>T)
c.*2493-63C>T (n.*2493-63C>T)
c.4595C>T (p.Ser1532Phe)
c.4472C>T (p.Ser1491Phe)
c.4418C>T (p.Ser1473Phe)
c.4238C>T (p.Ser1413Phe)
c.4187C>T (p.Ser1396Phe)
c.4865C>T (p.Ser1622Phe)
c.4514C>T (p.Ser1505Phe)
c.4814C>T (p.Ser1605Phe)
2g.120990528C>ACA428750729GLI2c.4563C>A (p.Ser1521=)
c.4614C>A (p.Ser1538=)
c.*3662C>A (n.*3662C>A)
c.*2544-62C>A (n.*2544-62C>A)
c.*3713C>A (n.*3713C>A)
c.*2493-62C>A (n.*2493-62C>A)
c.4596C>A (p.Ser1532=)
c.4473C>A (p.Ser1491=)
c.4419C>A (p.Ser1473=)
c.4239C>A (p.Ser1413=)
c.4188C>A (p.Ser1396=)
c.4866C>A (p.Ser1622=)
c.4515C>A (p.Ser1505=)
c.4815C>A (p.Ser1605=)
2g.120990528C>GCA428750730GLI2c.4563C>G (p.Ser1521=)
c.4614C>G (p.Ser1538=)
c.*3662C>G (n.*3662C>G)
c.*2544-62C>G (n.*2544-62C>G)
c.*3713C>G (n.*3713C>G)
c.*2493-62C>G (n.*2493-62C>G)
c.4596C>G (p.Ser1532=)
c.4473C>G (p.Ser1491=)
c.4419C>G (p.Ser1473=)
c.4239C>G (p.Ser1413=)
c.4188C>G (p.Ser1396=)
c.4866C>G (p.Ser1622=)
c.4515C>G (p.Ser1505=)
c.4815C>G (p.Ser1605=)
2g.120990528C>TCA428750731GLI2c.4563C>T (p.Ser1521=)
c.4614C>T (p.Ser1538=)
c.*3662C>T (n.*3662C>T)
c.*2544-62C>T (n.*2544-62C>T)
c.*3713C>T (n.*3713C>T)
c.*2493-62C>T (n.*2493-62C>T)
c.4596C>T (p.Ser1532=)
c.4473C>T (p.Ser1491=)
c.4419C>T (p.Ser1473=)
c.4239C>T (p.Ser1413=)
c.4188C>T (p.Ser1396=)
c.4866C>T (p.Ser1622=)
c.4515C>T (p.Ser1505=)
c.4815C>T (p.Ser1605=)
2g.120990529C>ACA348180109GLI2c.4564C>A (p.Gln1522Lys)
c.4615C>A (p.Gln1539Lys)
c.*3663C>A (n.*3663C>A)
c.*2544-61C>A (n.*2544-61C>A)
c.*3714C>A (n.*3714C>A)
c.*2493-61C>A (n.*2493-61C>A)
c.4597C>A (p.Gln1533Lys)
c.4474C>A (p.Gln1492Lys)
c.4420C>A (p.Gln1474Lys)
c.4240C>A (p.Gln1414Lys)
c.4189C>A (p.Gln1397Lys)
c.4867C>A (p.Gln1623Lys)
c.4516C>A (p.Gln1506Lys)
c.4816C>A (p.Gln1606Lys)
2g.120990529C>GCA348180110GLI2c.4564C>G (p.Gln1522Glu)
c.4615C>G (p.Gln1539Glu)
c.*3663C>G (n.*3663C>G)
c.*2544-61C>G (n.*2544-61C>G)
c.*3714C>G (n.*3714C>G)
c.*2493-61C>G (n.*2493-61C>G)
c.4597C>G (p.Gln1533Glu)
c.4474C>G (p.Gln1492Glu)
c.4420C>G (p.Gln1474Glu)
c.4240C>G (p.Gln1414Glu)
c.4189C>G (p.Gln1397Glu)
c.4867C>G (p.Gln1623Glu)
c.4516C>G (p.Gln1506Glu)
c.4816C>G (p.Gln1606Glu)
2g.120990529C>TCA348180111GLI2c.4564C>T (p.Gln1522Ter)
c.4615C>T (p.Gln1539Ter)
c.*3663C>T (n.*3663C>T)
c.*2544-61C>T (n.*2544-61C>T)
c.*3714C>T (n.*3714C>T)
c.*2493-61C>T (n.*2493-61C>T)
c.4597C>T (p.Gln1533Ter)
c.4474C>T (p.Gln1492Ter)
c.4420C>T (p.Gln1474Ter)
c.4240C>T (p.Gln1414Ter)
c.4189C>T (p.Gln1397Ter)
c.4867C>T (p.Gln1623Ter)
c.4516C>T (p.Gln1506Ter)
c.4816C>T (p.Gln1606Ter)
2g.120990530A>CCA348180112GLI2c.4565A>C (p.Gln1522Pro)
c.4616A>C (p.Gln1539Pro)
c.*3664A>C (n.*3664A>C)
c.*2544-60A>C (n.*2544-60A>C)
c.*3715A>C (n.*3715A>C)
c.*2493-60A>C (n.*2493-60A>C)
c.4598A>C (p.Gln1533Pro)
c.4475A>C (p.Gln1492Pro)
c.4421A>C (p.Gln1474Pro)
c.4241A>C (p.Gln1414Pro)
c.4190A>C (p.Gln1397Pro)
c.4868A>C (p.Gln1623Pro)
c.4517A>C (p.Gln1506Pro)
c.4817A>C (p.Gln1606Pro)
2g.120990530A>GCA348180114GLI2c.4565A>G (p.Gln1522Arg)
c.4616A>G (p.Gln1539Arg)
c.*3664A>G (n.*3664A>G)
c.*2544-60A>G (n.*2544-60A>G)
c.*3715A>G (n.*3715A>G)
c.*2493-60A>G (n.*2493-60A>G)
c.4598A>G (p.Gln1533Arg)
c.4475A>G (p.Gln1492Arg)
c.4421A>G (p.Gln1474Arg)
c.4241A>G (p.Gln1414Arg)
c.4190A>G (p.Gln1397Arg)
c.4868A>G (p.Gln1623Arg)
c.4517A>G (p.Gln1506Arg)
c.4817A>G (p.Gln1606Arg)
2g.120990530A>TCA348180113GLI2c.4565A>T (p.Gln1522Leu)
c.4616A>T (p.Gln1539Leu)
c.*3664A>T (n.*3664A>T)
c.*2544-60A>T (n.*2544-60A>T)
c.*3715A>T (n.*3715A>T)
c.*2493-60A>T (n.*2493-60A>T)
c.4598A>T (p.Gln1533Leu)
c.4475A>T (p.Gln1492Leu)
c.4421A>T (p.Gln1474Leu)
c.4241A>T (p.Gln1414Leu)
c.4190A>T (p.Gln1397Leu)
c.4868A>T (p.Gln1623Leu)
c.4517A>T (p.Gln1506Leu)
c.4817A>T (p.Gln1606Leu)
2g.120990531G>ACA54386526GLI2c.4566G>A (p.Gln1522=)
c.4617G>A (p.Gln1539=)
c.*3665G>A (n.*3665G>A)
c.*2544-59G>A (n.*2544-59G>A)
c.*3716G>A (n.*3716G>A)
c.*2493-59G>A (n.*2493-59G>A)
c.4599G>A (p.Gln1533=)
c.4476G>A (p.Gln1492=)
c.4422G>A (p.Gln1474=)
c.4242G>A (p.Gln1414=)
c.4191G>A (p.Gln1397=)
c.4869G>A (p.Gln1623=)
c.4518G>A (p.Gln1506=)
c.4818G>A (p.Gln1606=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.120990531G>CCA348180116GLI2c.4566G>C (p.Gln1522His)
c.4617G>C (p.Gln1539His)
c.*3665G>C (n.*3665G>C)
c.*2544-59G>C (n.*2544-59G>C)
c.*3716G>C (n.*3716G>C)
c.*2493-59G>C (n.*2493-59G>C)
c.4599G>C (p.Gln1533His)
c.4476G>C (p.Gln1492His)
c.4422G>C (p.Gln1474His)
c.4242G>C (p.Gln1414His)
c.4191G>C (p.Gln1397His)
c.4869G>C (p.Gln1623His)
c.4518G>C (p.Gln1506His)
c.4818G>C (p.Gln1606His)
2g.120990531G=CA1283796160GLI2c.4566G= (p.Gln1522=)
c.4617G= (p.Gln1539=)
c.*3665G= (n.*3665G=)
c.*2544-59G= (n.*2544-59G=)
c.*3716G= (n.*3716G=)
c.*2493-59G= (n.*2493-59G=)
c.4599G= (p.Gln1533=)
c.4476G= (p.Gln1492=)
c.4422G= (p.Gln1474=)
c.4242G= (p.Gln1414=)
c.4191G= (p.Gln1397=)
c.4869G= (p.Gln1623=)
c.4518G= (p.Gln1506=)
c.4818G= (p.Gln1606=)
2g.120990531G>TCA348180115GLI2c.4566G>T (p.Gln1522His)
c.4617G>T (p.Gln1539His)
c.*3665G>T (n.*3665G>T)
c.*2544-59G>T (n.*2544-59G>T)
c.*3716G>T (n.*3716G>T)
c.*2493-59G>T (n.*2493-59G>T)
c.4599G>T (p.Gln1533His)
c.4476G>T (p.Gln1492His)
c.4422G>T (p.Gln1474His)
c.4242G>T (p.Gln1414His)
c.4191G>T (p.Gln1397His)
c.4869G>T (p.Gln1623His)
c.4518G>T (p.Gln1506His)
c.4818G>T (p.Gln1606His)
2g.120990532A>CCA348180118GLI2c.4567A>C (p.Asn1523His)
c.4618A>C (p.Asn1540His)
c.*3666A>C (n.*3666A>C)
c.*2544-58A>C (n.*2544-58A>C)
c.*3717A>C (n.*3717A>C)
c.*2493-58A>C (n.*2493-58A>C)
c.4600A>C (p.Asn1534His)
c.4477A>C (p.Asn1493His)
c.4423A>C (p.Asn1475His)
c.4243A>C (p.Asn1415His)
c.4192A>C (p.Asn1398His)
c.4870A>C (p.Asn1624His)
c.4519A>C (p.Asn1507His)
c.4819A>C (p.Asn1607His)
2g.120990532A>GCA348180119GLI2c.4567A>G (p.Asn1523Asp)
c.4618A>G (p.Asn1540Asp)
c.*3666A>G (n.*3666A>G)
c.*2544-58A>G (n.*2544-58A>G)
c.*3717A>G (n.*3717A>G)
c.*2493-58A>G (n.*2493-58A>G)
c.4600A>G (p.Asn1534Asp)
c.4477A>G (p.Asn1493Asp)
c.4423A>G (p.Asn1475Asp)
c.4243A>G (p.Asn1415Asp)
c.4192A>G (p.Asn1398Asp)
c.4870A>G (p.Asn1624Asp)
c.4519A>G (p.Asn1507Asp)
c.4819A>G (p.Asn1607Asp)
2g.120990532A>TCA348180117GLI2c.4567A>T (p.Asn1523Tyr)
c.4618A>T (p.Asn1540Tyr)
c.*3666A>T (n.*3666A>T)
c.*2544-58A>T (n.*2544-58A>T)
c.*3717A>T (n.*3717A>T)
c.*2493-58A>T (n.*2493-58A>T)
c.4600A>T (p.Asn1534Tyr)
c.4477A>T (p.Asn1493Tyr)
c.4423A>T (p.Asn1475Tyr)
c.4243A>T (p.Asn1415Tyr)
c.4192A>T (p.Asn1398Tyr)
c.4870A>T (p.Asn1624Tyr)
c.4519A>T (p.Asn1507Tyr)
c.4819A>T (p.Asn1607Tyr)
2g.120990533dupCA54386532GLI2c.4568dup (p.Asn1523LysfsTer?)
c.4619dup (p.Asn1540LysfsTer?)
c.*3667dup (n.*3667dup)
c.*2544-57dup (n.*2544-57dup)
c.*3718dup (n.*3718dup)
c.*2493-57dup (n.*2493-57dup)
c.4601dup (p.Asn1534LysfsTer?)
c.4478dup (p.Asn1493LysfsTer?)
c.4424dup (p.Asn1475LysfsTer?)
c.4244dup (p.Asn1415LysfsTer?)
c.4193dup (p.Asn1398LysfsTer?)
c.4871dup (p.Asn1624LysfsTer?)
c.4520dup (p.Asn1507LysfsTer?)
c.4820dup (p.Asn1607LysfsTer?)
 dbSNP
2g.120990533A=CA1283796162GLI2c.4568A= (p.Asn1523=)
c.4619A= (p.Asn1540=)
c.*3667A= (n.*3667A=)
c.*2544-57A= (n.*2544-57A=)
c.*3718A= (n.*3718A=)
c.*2493-57A= (n.*2493-57A=)
c.4601A= (p.Asn1534=)
c.4478A= (p.Asn1493=)
c.4424A= (p.Asn1475=)
c.4244A= (p.Asn1415=)
c.4193A= (p.Asn1398=)
c.4871A= (p.Asn1624=)
c.4520A= (p.Asn1507=)
c.4820A= (p.Asn1607=)
2g.120990533A>CCA348180120GLI2c.4568A>C (p.Asn1523Thr)
c.4619A>C (p.Asn1540Thr)
c.*3667A>C (n.*3667A>C)
c.*2544-57A>C (n.*2544-57A>C)
c.*3718A>C (n.*3718A>C)
c.*2493-57A>C (n.*2493-57A>C)
c.4601A>C (p.Asn1534Thr)
c.4478A>C (p.Asn1493Thr)
c.4424A>C (p.Asn1475Thr)
c.4244A>C (p.Asn1415Thr)
c.4193A>C (p.Asn1398Thr)
c.4871A>C (p.Asn1624Thr)
c.4520A>C (p.Asn1507Thr)
c.4820A>C (p.Asn1607Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.120990533A>GCA348180121GLI2c.4568A>G (p.Asn1523Ser)
c.4619A>G (p.Asn1540Ser)
c.*3667A>G (n.*3667A>G)
c.*2544-57A>G (n.*2544-57A>G)
c.*3718A>G (n.*3718A>G)
c.*2493-57A>G (n.*2493-57A>G)
c.4601A>G (p.Asn1534Ser)
c.4478A>G (p.Asn1493Ser)
c.4424A>G (p.Asn1475Ser)
c.4244A>G (p.Asn1415Ser)
c.4193A>G (p.Asn1398Ser)
c.4871A>G (p.Asn1624Ser)
c.4520A>G (p.Asn1507Ser)
c.4820A>G (p.Asn1607Ser)
 dbSNP
2g.120990533A>TCA348180122GLI2c.4568A>T (p.Asn1523Ile)
c.4619A>T (p.Asn1540Ile)
c.*3667A>T (n.*3667A>T)
c.*2544-57A>T (n.*2544-57A>T)
c.*3718A>T (n.*3718A>T)
c.*2493-57A>T (n.*2493-57A>T)
c.4601A>T (p.Asn1534Ile)
c.4478A>T (p.Asn1493Ile)
c.4424A>T (p.Asn1475Ile)
c.4244A>T (p.Asn1415Ile)
c.4193A>T (p.Asn1398Ile)
c.4871A>T (p.Asn1624Ile)
c.4520A>T (p.Asn1507Ile)
c.4820A>T (p.Asn1607Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.120990533_120990536delinsACTCCA1283796161GLI2c.4568_4571delinsACTC (p.Asn1523=)
c.4619_4622delinsACTC (p.Asn1540=)
c.*3667_*3670delinsACTC (n.*3667_*3670delinsACTC)
c.*2544-57_*2544-54delinsACTC (n.*2544-57_*2544-54delinsACTC)
c.*3718_*3721delinsACTC (n.*3718_*3721delinsACTC)
c.*2493-57_*2493-54delinsACTC (n.*2493-57_*2493-54delinsACTC)
c.4601_4604delinsACTC (p.Asn1534=)
c.4478_4481delinsACTC (p.Asn1493=)
c.4424_4427delinsACTC (p.Asn1475=)
c.4244_4247delinsACTC (p.Asn1415=)
c.4193_4196delinsACTC (p.Asn1398=)
c.4871_4874delinsACTC (p.Asn1624=)
c.4520_4523delinsACTC (p.Asn1507=)
c.4820_4823delinsACTC (p.Asn1607=)
2g.120990534C>ACA348180123GLI2c.4569C>A (p.Asn1523Lys)
c.4620C>A (p.Asn1540Lys)
c.*3668C>A (n.*3668C>A)
c.*2544-56C>A (n.*2544-56C>A)
c.*3719C>A (n.*3719C>A)
c.*2493-56C>A (n.*2493-56C>A)
c.4602C>A (p.Asn1534Lys)
c.4479C>A (p.Asn1493Lys)
c.4425C>A (p.Asn1475Lys)
c.4245C>A (p.Asn1415Lys)
c.4194C>A (p.Asn1398Lys)
c.4872C>A (p.Asn1624Lys)
c.4521C>A (p.Asn1507Lys)
c.4821C>A (p.Asn1607Lys)
2g.120990534C>GCA348180124GLI2c.4569C>G (p.Asn1523Lys)
c.4620C>G (p.Asn1540Lys)
c.*3668C>G (n.*3668C>G)
c.*2544-56C>G (n.*2544-56C>G)
c.*3719C>G (n.*3719C>G)
c.*2493-56C>G (n.*2493-56C>G)
c.4602C>G (p.Asn1534Lys)
c.4479C>G (p.Asn1493Lys)
c.4425C>G (p.Asn1475Lys)
c.4245C>G (p.Asn1415Lys)
c.4194C>G (p.Asn1398Lys)
c.4872C>G (p.Asn1624Lys)
c.4521C>G (p.Asn1507Lys)
c.4821C>G (p.Asn1607Lys)
2g.120990534C>TCA428750732GLI2c.4569C>T (p.Asn1523=)
c.4620C>T (p.Asn1540=)
c.*3668C>T (n.*3668C>T)
c.*2544-56C>T (n.*2544-56C>T)
c.*3719C>T (n.*3719C>T)
c.*2493-56C>T (n.*2493-56C>T)
c.4602C>T (p.Asn1534=)
c.4479C>T (p.Asn1493=)
c.4425C>T (p.Asn1475=)
c.4245C>T (p.Asn1415=)
c.4194C>T (p.Asn1398=)
c.4872C>T (p.Asn1624=)
c.4521C>T (p.Asn1507=)
c.4821C>T (p.Asn1607=)
2g.120990538_120990540delCA1035703001GLI2c.4573_4575del (p.Ser1525del)
c.4624_4626del (p.Ser1542del)
c.*3672_*3674del (n.*3672_*3674del)
c.*2544-52_*2544-50del (n.*2544-52_*2544-50del)
c.*3723_*3725del (n.*3723_*3725del)
c.*2493-52_*2493-50del (n.*2493-52_*2493-50del)
c.4606_4608del (p.Ser1536del)
c.4483_4485del (p.Ser1495del)
c.4429_4431del (p.Ser1477del)
c.4249_4251del (p.Ser1417del)
c.4198_4200del (p.Ser1400del)
c.4876_4878del (p.Ser1626del)
c.4525_4527del (p.Ser1509del)
c.4825_4827del (p.Ser1609del)
 dbSNP gnomAD v3 gnomAD v4
2g.120990535T>ACA348180125GLI2c.4570T>A (p.Ser1524Thr)
c.4621T>A (p.Ser1541Thr)
c.*3669T>A (n.*3669T>A)
c.*2544-55T>A (n.*2544-55T>A)
c.*3720T>A (n.*3720T>A)
c.*2493-55T>A (n.*2493-55T>A)
c.4603T>A (p.Ser1535Thr)
c.4480T>A (p.Ser1494Thr)
c.4426T>A (p.Ser1476Thr)
c.4246T>A (p.Ser1416Thr)
c.4195T>A (p.Ser1399Thr)
c.4873T>A (p.Ser1625Thr)
c.4522T>A (p.Ser1508Thr)
c.4822T>A (p.Ser1608Thr)
2g.120990535T>CCA348180126GLI2c.4570T>C (p.Ser1524Pro)
c.4621T>C (p.Ser1541Pro)
c.*3669T>C (n.*3669T>C)
c.*2544-55T>C (n.*2544-55T>C)
c.*3720T>C (n.*3720T>C)
c.*2493-55T>C (n.*2493-55T>C)
c.4603T>C (p.Ser1535Pro)
c.4480T>C (p.Ser1494Pro)
c.4426T>C (p.Ser1476Pro)
c.4246T>C (p.Ser1416Pro)
c.4195T>C (p.Ser1399Pro)
c.4873T>C (p.Ser1625Pro)
c.4522T>C (p.Ser1508Pro)
c.4822T>C (p.Ser1608Pro)
 dbSNP gnomAD v2
2g.120990535T>GCA348180127GLI2c.4570T>G (p.Ser1524Ala)
c.4621T>G (p.Ser1541Ala)
c.*3669T>G (n.*3669T>G)
c.*2544-55T>G (n.*2544-55T>G)
c.*3720T>G (n.*3720T>G)
c.*2493-55T>G (n.*2493-55T>G)
c.4603T>G (p.Ser1535Ala)
c.4480T>G (p.Ser1494Ala)
c.4426T>G (p.Ser1476Ala)
c.4246T>G (p.Ser1416Ala)
c.4195T>G (p.Ser1399Ala)
c.4873T>G (p.Ser1625Ala)
c.4522T>G (p.Ser1508Ala)
c.4822T>G (p.Ser1608Ala)
2g.120990535T=CA1283796163GLI2c.4570T= (p.Ser1524=)
c.4621T= (p.Ser1541=)
c.*3669T= (n.*3669T=)
c.*2544-55T= (n.*2544-55T=)
c.*3720T= (n.*3720T=)
c.*2493-55T= (n.*2493-55T=)
c.4603T= (p.Ser1535=)
c.4480T= (p.Ser1494=)
c.4426T= (p.Ser1476=)
c.4246T= (p.Ser1416=)
c.4195T= (p.Ser1399=)
c.4873T= (p.Ser1625=)
c.4522T= (p.Ser1508=)
c.4822T= (p.Ser1608=)
2g.120990536C>ACA1852665GLI2c.4571C>A (p.Ser1524Tyr)
c.4622C>A (p.Ser1541Tyr)
c.*3670C>A (n.*3670C>A)
c.*2544-54C>A (n.*2544-54C>A)
c.*3721C>A (n.*3721C>A)
c.*2493-54C>A (n.*2493-54C>A)
c.4604C>A (p.Ser1535Tyr)
c.4481C>A (p.Ser1494Tyr)
c.4427C>A (p.Ser1476Tyr)
c.4247C>A (p.Ser1416Tyr)
c.4196C>A (p.Ser1399Tyr)
c.4874C>A (p.Ser1625Tyr)
c.4523C>A (p.Ser1508Tyr)
c.4823C>A (p.Ser1608Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.120990536C=CA1283796164GLI2c.4571C= (p.Ser1524=)
c.4622C= (p.Ser1541=)
c.*3670C= (n.*3670C=)
c.*2544-54C= (n.*2544-54C=)
c.*3721C= (n.*3721C=)
c.*2493-54C= (n.*2493-54C=)
c.4604C= (p.Ser1535=)
c.4481C= (p.Ser1494=)
c.4427C= (p.Ser1476=)
c.4247C= (p.Ser1416=)
c.4196C= (p.Ser1399=)
c.4874C= (p.Ser1625=)
c.4523C= (p.Ser1508=)
c.4823C= (p.Ser1608=)
2g.120990536C>GCA348180128GLI2c.4571C>G (p.Ser1524Cys)
c.4622C>G (p.Ser1541Cys)
c.*3670C>G (n.*3670C>G)
c.*2544-54C>G (n.*2544-54C>G)
c.*3721C>G (n.*3721C>G)
c.*2493-54C>G (n.*2493-54C>G)
c.4604C>G (p.Ser1535Cys)
c.4481C>G (p.Ser1494Cys)
c.4427C>G (p.Ser1476Cys)
c.4247C>G (p.Ser1416Cys)
c.4196C>G (p.Ser1399Cys)
c.4874C>G (p.Ser1625Cys)
c.4523C>G (p.Ser1508Cys)
c.4823C>G (p.Ser1608Cys)
2g.120990536C>TCA348180129GLI2c.4571C>T (p.Ser1524Phe)
c.4622C>T (p.Ser1541Phe)
c.*3670C>T (n.*3670C>T)
c.*2544-54C>T (n.*2544-54C>T)
c.*3721C>T (n.*3721C>T)
c.*2493-54C>T (n.*2493-54C>T)
c.4604C>T (p.Ser1535Phe)
c.4481C>T (p.Ser1494Phe)
c.4427C>T (p.Ser1476Phe)
c.4247C>T (p.Ser1416Phe)
c.4196C>T (p.Ser1399Phe)
c.4874C>T (p.Ser1625Phe)
c.4523C>T (p.Ser1508Phe)
c.4823C>T (p.Ser1608Phe)
 gnomAD v4 COSMIC
2g.120990537C>ACA428750733GLI2c.4572C>A (p.Ser1524=)
c.4623C>A (p.Ser1541=)
c.*3671C>A (n.*3671C>A)
c.*2544-53C>A (n.*2544-53C>A)
c.*3722C>A (n.*3722C>A)
c.*2493-53C>A (n.*2493-53C>A)
c.4605C>A (p.Ser1535=)
c.4482C>A (p.Ser1494=)
c.4428C>A (p.Ser1476=)
c.4248C>A (p.Ser1416=)
c.4197C>A (p.Ser1399=)
c.4875C>A (p.Ser1625=)
c.4524C>A (p.Ser1508=)
c.4824C>A (p.Ser1608=)
2g.120990537C=CA1283796165GLI2c.4572C= (p.Ser1524=)
c.4623C= (p.Ser1541=)
c.*3671C= (n.*3671C=)
c.*2544-53C= (n.*2544-53C=)
c.*3722C= (n.*3722C=)
c.*2493-53C= (n.*2493-53C=)
c.4605C= (p.Ser1535=)
c.4482C= (p.Ser1494=)
c.4428C= (p.Ser1476=)
c.4248C= (p.Ser1416=)
c.4197C= (p.Ser1399=)
c.4875C= (p.Ser1625=)
c.4524C= (p.Ser1508=)
c.4824C= (p.Ser1608=)
2g.120990537C>GCA1852666GLI2c.4572C>G (p.Ser1524=)
c.4623C>G (p.Ser1541=)
c.*3671C>G (n.*3671C>G)
c.*2544-53C>G (n.*2544-53C>G)
c.*3722C>G (n.*3722C>G)
c.*2493-53C>G (n.*2493-53C>G)
c.4605C>G (p.Ser1535=)
c.4482C>G (p.Ser1494=)
c.4428C>G (p.Ser1476=)
c.4248C>G (p.Ser1416=)
c.4197C>G (p.Ser1399=)
c.4875C>G (p.Ser1625=)
c.4524C>G (p.Ser1508=)
c.4824C>G (p.Ser1608=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120990537C>TCA428750734GLI2c.4572C>T (p.Ser1524=)
c.4623C>T (p.Ser1541=)
c.*3671C>T (n.*3671C>T)
c.*2544-53C>T (n.*2544-53C>T)
c.*3722C>T (n.*3722C>T)
c.*2493-53C>T (n.*2493-53C>T)
c.4605C>T (p.Ser1535=)
c.4482C>T (p.Ser1494=)
c.4428C>T (p.Ser1476=)
c.4248C>T (p.Ser1416=)
c.4197C>T (p.Ser1399=)
c.4875C>T (p.Ser1625=)
c.4524C>T (p.Ser1508=)
c.4824C>T (p.Ser1608=)
 COSMIC
2g.120990538T>ACA348180130GLI2c.4573T>A (p.Ser1525Thr)
c.4624T>A (p.Ser1542Thr)
c.*3672T>A (n.*3672T>A)
c.*2544-52T>A (n.*2544-52T>A)
c.*3723T>A (n.*3723T>A)
c.*2493-52T>A (n.*2493-52T>A)
c.4606T>A (p.Ser1536Thr)
c.4483T>A (p.Ser1495Thr)
c.4429T>A (p.Ser1477Thr)
c.4249T>A (p.Ser1417Thr)
c.4198T>A (p.Ser1400Thr)
c.4876T>A (p.Ser1626Thr)
c.4525T>A (p.Ser1509Thr)
c.4825T>A (p.Ser1609Thr)
2g.120990538T>CCA348180132GLI2c.4573T>C (p.Ser1525Pro)
c.4624T>C (p.Ser1542Pro)
c.*3672T>C (n.*3672T>C)
c.*2544-52T>C (n.*2544-52T>C)
c.*3723T>C (n.*3723T>C)
c.*2493-52T>C (n.*2493-52T>C)
c.4606T>C (p.Ser1536Pro)
c.4483T>C (p.Ser1495Pro)
c.4429T>C (p.Ser1477Pro)
c.4249T>C (p.Ser1417Pro)
c.4198T>C (p.Ser1400Pro)
c.4876T>C (p.Ser1626Pro)
c.4525T>C (p.Ser1509Pro)
c.4825T>C (p.Ser1609Pro)
2g.120990538T>GCA348180131GLI2c.4573T>G (p.Ser1525Ala)
c.4624T>G (p.Ser1542Ala)
c.*3672T>G (n.*3672T>G)
c.*2544-52T>G (n.*2544-52T>G)
c.*3723T>G (n.*3723T>G)
c.*2493-52T>G (n.*2493-52T>G)
c.4606T>G (p.Ser1536Ala)
c.4483T>G (p.Ser1495Ala)
c.4429T>G (p.Ser1477Ala)
c.4249T>G (p.Ser1417Ala)
c.4198T>G (p.Ser1400Ala)
c.4876T>G (p.Ser1626Ala)
c.4525T>G (p.Ser1509Ala)
c.4825T>G (p.Ser1609Ala)
2g.120990539C>ACA348180133GLI2c.4574C>A (p.Ser1525Tyr)
c.4625C>A (p.Ser1542Tyr)
c.*3673C>A (n.*3673C>A)
c.*2544-51C>A (n.*2544-51C>A)
c.*3724C>A (n.*3724C>A)
c.*2493-51C>A (n.*2493-51C>A)
c.4607C>A (p.Ser1536Tyr)
c.4484C>A (p.Ser1495Tyr)
c.4430C>A (p.Ser1477Tyr)
c.4250C>A (p.Ser1417Tyr)
c.4199C>A (p.Ser1400Tyr)
c.4877C>A (p.Ser1626Tyr)
c.4526C>A (p.Ser1509Tyr)
c.4826C>A (p.Ser1609Tyr)
2g.120990539C=CA1283796166GLI2c.4574C= (p.Ser1525=)
c.4625C= (p.Ser1542=)
c.*3673C= (n.*3673C=)
c.*2544-51C= (n.*2544-51C=)
c.*3724C= (n.*3724C=)
c.*2493-51C= (n.*2493-51C=)
c.4607C= (p.Ser1536=)
c.4484C= (p.Ser1495=)
c.4430C= (p.Ser1477=)
c.4250C= (p.Ser1417=)
c.4199C= (p.Ser1400=)
c.4877C= (p.Ser1626=)
c.4526C= (p.Ser1509=)
c.4826C= (p.Ser1609=)
2g.120990539C>GCA348180134GLI2c.4574C>G (p.Ser1525Cys)
c.4625C>G (p.Ser1542Cys)
c.*3673C>G (n.*3673C>G)
c.*2544-51C>G (n.*2544-51C>G)
c.*3724C>G (n.*3724C>G)
c.*2493-51C>G (n.*2493-51C>G)
c.4607C>G (p.Ser1536Cys)
c.4484C>G (p.Ser1495Cys)
c.4430C>G (p.Ser1477Cys)
c.4250C>G (p.Ser1417Cys)
c.4199C>G (p.Ser1400Cys)
c.4877C>G (p.Ser1626Cys)
c.4526C>G (p.Ser1509Cys)
c.4826C>G (p.Ser1609Cys)
2g.120990539C>TCA348180135GLI2c.4574C>T (p.Ser1525Phe)
c.4625C>T (p.Ser1542Phe)
c.*3673C>T (n.*3673C>T)
c.*2544-51C>T (n.*2544-51C>T)
c.*3724C>T (n.*3724C>T)
c.*2493-51C>T (n.*2493-51C>T)
c.4607C>T (p.Ser1536Phe)
c.4484C>T (p.Ser1495Phe)
c.4430C>T (p.Ser1477Phe)
c.4250C>T (p.Ser1417Phe)
c.4199C>T (p.Ser1400Phe)
c.4877C>T (p.Ser1626Phe)
c.4526C>T (p.Ser1509Phe)
c.4826C>T (p.Ser1609Phe)
 dbSNP gnomAD v3 gnomAD v4
2g.120990540C>ACA428750735GLI2c.4575C>A (p.Ser1525=)
c.4626C>A (p.Ser1542=)
c.*3674C>A (n.*3674C>A)
c.*2544-50C>A (n.*2544-50C>A)
c.*3725C>A (n.*3725C>A)
c.*2493-50C>A (n.*2493-50C>A)
c.4608C>A (p.Ser1536=)
c.4485C>A (p.Ser1495=)
c.4431C>A (p.Ser1477=)
c.4251C>A (p.Ser1417=)
c.4200C>A (p.Ser1400=)
c.4878C>A (p.Ser1626=)
c.4527C>A (p.Ser1509=)
c.4827C>A (p.Ser1609=)
2g.120990540C>GCA428750737GLI2c.4575C>G (p.Ser1525=)
c.4626C>G (p.Ser1542=)
c.*3674C>G (n.*3674C>G)
c.*2544-50C>G (n.*2544-50C>G)
c.*3725C>G (n.*3725C>G)
c.*2493-50C>G (n.*2493-50C>G)
c.4608C>G (p.Ser1536=)
c.4485C>G (p.Ser1495=)
c.4431C>G (p.Ser1477=)
c.4251C>G (p.Ser1417=)
c.4200C>G (p.Ser1400=)
c.4878C>G (p.Ser1626=)
c.4527C>G (p.Ser1509=)
c.4827C>G (p.Ser1609=)
2g.120990540C>TCA428750736GLI2c.4575C>T (p.Ser1525=)
c.4626C>T (p.Ser1542=)
c.*3674C>T (n.*3674C>T)
c.*2544-50C>T (n.*2544-50C>T)
c.*3725C>T (n.*3725C>T)
c.*2493-50C>T (n.*2493-50C>T)
c.4608C>T (p.Ser1536=)
c.4485C>T (p.Ser1495=)
c.4431C>T (p.Ser1477=)
c.4251C>T (p.Ser1417=)
c.4200C>T (p.Ser1400=)
c.4878C>T (p.Ser1626=)
c.4527C>T (p.Ser1509=)
c.4827C>T (p.Ser1609=)
2g.120990541C>ACA348180136GLI2c.4576C>A (p.Arg1526Ser)
c.4627C>A (p.Arg1543Ser)
c.*3675C>A (n.*3675C>A)
c.*2544-49C>A (n.*2544-49C>A)
c.*3726C>A (n.*3726C>A)
c.*2493-49C>A (n.*2493-49C>A)
c.4609C>A (p.Arg1537Ser)
c.4486C>A (p.Arg1496Ser)
c.4432C>A (p.Arg1478Ser)
c.4252C>A (p.Arg1418Ser)
c.4201C>A (p.Arg1401Ser)
c.4879C>A (p.Arg1627Ser)
c.4528C>A (p.Arg1510Ser)
c.4828C>A (p.Arg1610Ser)
2g.120990541C=CA1283796167GLI2c.4576C= (p.Arg1526=)
c.4627C= (p.Arg1543=)
c.*3675C= (n.*3675C=)
c.*2544-49C= (n.*2544-49C=)
c.*3726C= (n.*3726C=)
c.*2493-49C= (n.*2493-49C=)
c.4609C= (p.Arg1537=)
c.4486C= (p.Arg1496=)
c.4432C= (p.Arg1478=)
c.4252C= (p.Arg1418=)
c.4201C= (p.Arg1401=)
c.4879C= (p.Arg1627=)
c.4528C= (p.Arg1510=)
c.4828C= (p.Arg1610=)
2g.120990541C>GCA348180137GLI2c.4576C>G (p.Arg1526Gly)
c.4627C>G (p.Arg1543Gly)
c.*3675C>G (n.*3675C>G)
c.*2544-49C>G (n.*2544-49C>G)
c.*3726C>G (n.*3726C>G)
c.*2493-49C>G (n.*2493-49C>G)
c.4609C>G (p.Arg1537Gly)
c.4486C>G (p.Arg1496Gly)
c.4432C>G (p.Arg1478Gly)
c.4252C>G (p.Arg1418Gly)
c.4201C>G (p.Arg1401Gly)
c.4879C>G (p.Arg1627Gly)
c.4528C>G (p.Arg1510Gly)
c.4828C>G (p.Arg1610Gly)
 gnomAD v4
2g.120990541C>TCA1852667GLI2c.4576C>T (p.Arg1526Cys)
c.4627C>T (p.Arg1543Cys)
c.*3675C>T (n.*3675C>T)
c.*2544-49C>T (n.*2544-49C>T)
c.*3726C>T (n.*3726C>T)
c.*2493-49C>T (n.*2493-49C>T)
c.4609C>T (p.Arg1537Cys)
c.4486C>T (p.Arg1496Cys)
c.4432C>T (p.Arg1478Cys)
c.4252C>T (p.Arg1418Cys)
c.4201C>T (p.Arg1401Cys)
c.4879C>T (p.Arg1627Cys)
c.4528C>T (p.Arg1510Cys)
c.4828C>T (p.Arg1610Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.120990542G>ACA201045GLI2c.4577G>A (p.Arg1526His)
c.4628G>A (p.Arg1543His)
c.*3676G>A (n.*3676G>A)
c.*2544-48G>A (n.*2544-48G>A)
c.*3727G>A (n.*3727G>A)
c.*2493-48G>A (n.*2493-48G>A)
c.4610G>A (p.Arg1537His)
c.4487G>A (p.Arg1496His)
c.4433G>A (p.Arg1478His)
c.4253G>A (p.Arg1418His)
c.4202G>A (p.Arg1401His)
c.4880G>A (p.Arg1627His)
c.4529G>A (p.Arg1510His)
c.4829G>A (p.Arg1610His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.120990542G>CCA348180138GLI2c.4577G>C (p.Arg1526Pro)
c.4628G>C (p.Arg1543Pro)
c.*3676G>C (n.*3676G>C)
c.*2544-48G>C (n.*2544-48G>C)
c.*3727G>C (n.*3727G>C)
c.*2493-48G>C (n.*2493-48G>C)
c.4610G>C (p.Arg1537Pro)
c.4487G>C (p.Arg1496Pro)
c.4433G>C (p.Arg1478Pro)
c.4253G>C (p.Arg1418Pro)
c.4202G>C (p.Arg1401Pro)
c.4880G>C (p.Arg1627Pro)
c.4529G>C (p.Arg1510Pro)
c.4829G>C (p.Arg1610Pro)
2g.120990542G=CA1283796168GLI2c.4577G= (p.Arg1526=)
c.4628G= (p.Arg1543=)
c.*3676G= (n.*3676G=)
c.*2544-48G= (n.*2544-48G=)
c.*3727G= (n.*3727G=)
c.*2493-48G= (n.*2493-48G=)
c.4610G= (p.Arg1537=)
c.4487G= (p.Arg1496=)
c.4433G= (p.Arg1478=)
c.4253G= (p.Arg1418=)
c.4202G= (p.Arg1401=)
c.4880G= (p.Arg1627=)
c.4529G= (p.Arg1510=)
c.4829G= (p.Arg1610=)
2g.120990542G>TCA348180139GLI2c.4577G>T (p.Arg1526Leu)
c.4628G>T (p.Arg1543Leu)
c.*3676G>T (n.*3676G>T)
c.*2544-48G>T (n.*2544-48G>T)
c.*3727G>T (n.*3727G>T)
c.*2493-48G>T (n.*2493-48G>T)
c.4610G>T (p.Arg1537Leu)
c.4487G>T (p.Arg1496Leu)
c.4433G>T (p.Arg1478Leu)
c.4253G>T (p.Arg1418Leu)
c.4202G>T (p.Arg1401Leu)
c.4880G>T (p.Arg1627Leu)
c.4529G>T (p.Arg1510Leu)
c.4829G>T (p.Arg1610Leu)
2g.120990543C>ACA428750738GLI2c.4578C>A (p.Arg1526=)
c.4629C>A (p.Arg1543=)
c.*3677C>A (n.*3677C>A)
c.*2544-47C>A (n.*2544-47C>A)
c.*3728C>A (n.*3728C>A)
c.*2493-47C>A (n.*2493-47C>A)
c.4611C>A (p.Arg1537=)
c.4488C>A (p.Arg1496=)
c.4434C>A (p.Arg1478=)
c.4254C>A (p.Arg1418=)
c.4203C>A (p.Arg1401=)
c.4881C>A (p.Arg1627=)
c.4530C>A (p.Arg1510=)
c.4830C>A (p.Arg1610=)
2g.120990543C>GCA428750739GLI2c.4578C>G (p.Arg1526=)
c.4629C>G (p.Arg1543=)
c.*3677C>G (n.*3677C>G)
c.*2544-47C>G (n.*2544-47C>G)
c.*3728C>G (n.*3728C>G)
c.*2493-47C>G (n.*2493-47C>G)
c.4611C>G (p.Arg1537=)
c.4488C>G (p.Arg1496=)
c.4434C>G (p.Arg1478=)
c.4254C>G (p.Arg1418=)
c.4203C>G (p.Arg1401=)
c.4881C>G (p.Arg1627=)
c.4530C>G (p.Arg1510=)
c.4830C>G (p.Arg1610=)
2g.120990543C>TCA428750740GLI2c.4578C>T (p.Arg1526=)
c.4629C>T (p.Arg1543=)
c.*3677C>T (n.*3677C>T)
c.*2544-47C>T (n.*2544-47C>T)
c.*3728C>T (n.*3728C>T)
c.*2493-47C>T (n.*2493-47C>T)
c.4611C>T (p.Arg1537=)
c.4488C>T (p.Arg1496=)
c.4434C>T (p.Arg1478=)
c.4254C>T (p.Arg1418=)
c.4203C>T (p.Arg1401=)
c.4881C>T (p.Arg1627=)
c.4530C>T (p.Arg1510=)
c.4830C>T (p.Arg1610=)
2g.120990544C>ACA348180142GLI2c.4579C>A (p.Leu1527Ile)
c.4630C>A (p.Leu1544Ile)
c.*3678C>A (n.*3678C>A)
c.*2544-46C>A (n.*2544-46C>A)
c.*3729C>A (n.*3729C>A)
c.*2493-46C>A (n.*2493-46C>A)
c.4612C>A (p.Leu1538Ile)
c.4489C>A (p.Leu1497Ile)
c.4435C>A (p.Leu1479Ile)
c.4255C>A (p.Leu1419Ile)
c.4204C>A (p.Leu1402Ile)
c.4882C>A (p.Leu1628Ile)
c.4531C>A (p.Leu1511Ile)
c.4831C>A (p.Leu1611Ile)
2g.120990544C>GCA348180141GLI2c.4579C>G (p.Leu1527Val)
c.4630C>G (p.Leu1544Val)
c.*3678C>G (n.*3678C>G)
c.*2544-46C>G (n.*2544-46C>G)
c.*3729C>G (n.*3729C>G)
c.*2493-46C>G (n.*2493-46C>G)
c.4612C>G (p.Leu1538Val)
c.4489C>G (p.Leu1497Val)
c.4435C>G (p.Leu1479Val)
c.4255C>G (p.Leu1419Val)
c.4204C>G (p.Leu1402Val)
c.4882C>G (p.Leu1628Val)
c.4531C>G (p.Leu1511Val)
c.4831C>G (p.Leu1611Val)
 gnomAD v4
2g.120990544C>TCA348180140GLI2c.4579C>T (p.Leu1527Phe)
c.4630C>T (p.Leu1544Phe)
c.*3678C>T (n.*3678C>T)
c.*2544-46C>T (n.*2544-46C>T)
c.*3729C>T (n.*3729C>T)
c.*2493-46C>T (n.*2493-46C>T)
c.4612C>T (p.Leu1538Phe)
c.4489C>T (p.Leu1497Phe)
c.4435C>T (p.Leu1479Phe)
c.4255C>T (p.Leu1419Phe)
c.4204C>T (p.Leu1402Phe)
c.4882C>T (p.Leu1628Phe)
c.4531C>T (p.Leu1511Phe)
c.4831C>T (p.Leu1611Phe)
2g.120990545T>ACA348180143GLI2c.4580T>A (p.Leu1527His)
c.4631T>A (p.Leu1544His)
c.*3679T>A (n.*3679T>A)
c.*2544-45T>A (n.*2544-45T>A)
c.*3730T>A (n.*3730T>A)
c.*2493-45T>A (n.*2493-45T>A)
c.4613T>A (p.Leu1538His)
c.4490T>A (p.Leu1497His)
c.4436T>A (p.Leu1479His)
c.4256T>A (p.Leu1419His)
c.4205T>A (p.Leu1402His)
c.4883T>A (p.Leu1628His)
c.4532T>A (p.Leu1511His)
c.4832T>A (p.Leu1611His)
2g.120990545T>CCA348180144GLI2c.4580T>C (p.Leu1527Pro)
c.4631T>C (p.Leu1544Pro)
c.*3679T>C (n.*3679T>C)
c.*2544-45T>C (n.*2544-45T>C)
c.*3730T>C (n.*3730T>C)
c.*2493-45T>C (n.*2493-45T>C)
c.4613T>C (p.Leu1538Pro)
c.4490T>C (p.Leu1497Pro)
c.4436T>C (p.Leu1479Pro)
c.4256T>C (p.Leu1419Pro)
c.4205T>C (p.Leu1402Pro)
c.4883T>C (p.Leu1628Pro)
c.4532T>C (p.Leu1511Pro)
c.4832T>C (p.Leu1611Pro)
 gnomAD v4
2g.120990545T>GCA348180145GLI2c.4580T>G (p.Leu1527Arg)
c.4631T>G (p.Leu1544Arg)
c.*3679T>G (n.*3679T>G)
c.*2544-45T>G (n.*2544-45T>G)
c.*3730T>G (n.*3730T>G)
c.*2493-45T>G (n.*2493-45T>G)
c.4613T>G (p.Leu1538Arg)
c.4490T>G (p.Leu1497Arg)
c.4436T>G (p.Leu1479Arg)
c.4256T>G (p.Leu1419Arg)
c.4205T>G (p.Leu1402Arg)
c.4883T>G (p.Leu1628Arg)
c.4532T>G (p.Leu1511Arg)
c.4832T>G (p.Leu1611Arg)
 dbSNP
2g.120990546C>ACA428750741GLI2c.4581C>A (p.Leu1527=)
c.4632C>A (p.Leu1544=)
c.*3680C>A (n.*3680C>A)
c.*2544-44C>A (n.*2544-44C>A)
c.*3731C>A (n.*3731C>A)
c.*2493-44C>A (n.*2493-44C>A)
c.4614C>A (p.Leu1538=)
c.4491C>A (p.Leu1497=)
c.4437C>A (p.Leu1479=)
c.4257C>A (p.Leu1419=)
c.4206C>A (p.Leu1402=)
c.4884C>A (p.Leu1628=)
c.4533C>A (p.Leu1511=)
c.4833C>A (p.Leu1611=)
2g.120990546C>GCA428750742GLI2c.4581C>G (p.Leu1527=)
c.4632C>G (p.Leu1544=)
c.*3680C>G (n.*3680C>G)
c.*2544-44C>G (n.*2544-44C>G)
c.*3731C>G (n.*3731C>G)
c.*2493-44C>G (n.*2493-44C>G)
c.4614C>G (p.Leu1538=)
c.4491C>G (p.Leu1497=)
c.4437C>G (p.Leu1479=)
c.4257C>G (p.Leu1419=)
c.4206C>G (p.Leu1402=)
c.4884C>G (p.Leu1628=)
c.4533C>G (p.Leu1511=)
c.4833C>G (p.Leu1611=)
2g.120990546C>TCA428750743GLI2c.4581C>T (p.Leu1527=)
c.4632C>T (p.Leu1544=)
c.*3680C>T (n.*3680C>T)
c.*2544-44C>T (n.*2544-44C>T)
c.*3731C>T (n.*3731C>T)
c.*2493-44C>T (n.*2493-44C>T)
c.4614C>T (p.Leu1538=)
c.4491C>T (p.Leu1497=)
c.4437C>T (p.Leu1479=)
c.4257C>T (p.Leu1419=)
c.4206C>T (p.Leu1402=)
c.4884C>T (p.Leu1628=)
c.4533C>T (p.Leu1511=)
c.4833C>T (p.Leu1611=)
2g.120990547A>CCA348180146GLI2c.4582A>C (p.Thr1528Pro)
c.4633A>C (p.Thr1545Pro)
c.*3681A>C (n.*3681A>C)
c.*2544-43A>C (n.*2544-43A>C)
c.*3732A>C (n.*3732A>C)
c.*2493-43A>C (n.*2493-43A>C)
c.4615A>C (p.Thr1539Pro)
c.4492A>C (p.Thr1498Pro)
c.4438A>C (p.Thr1480Pro)
c.4258A>C (p.Thr1420Pro)
c.4207A>C (p.Thr1403Pro)
c.4885A>C (p.Thr1629Pro)
c.4534A>C (p.Thr1512Pro)
c.4834A>C (p.Thr1612Pro)
 dbSNP
2g.120990547A>GCA348180147GLI2c.4582A>G (p.Thr1528Ala)
c.4633A>G (p.Thr1545Ala)
c.*3681A>G (n.*3681A>G)
c.*2544-43A>G (n.*2544-43A>G)
c.*3732A>G (n.*3732A>G)
c.*2493-43A>G (n.*2493-43A>G)
c.4615A>G (p.Thr1539Ala)
c.4492A>G (p.Thr1498Ala)
c.4438A>G (p.Thr1480Ala)
c.4258A>G (p.Thr1420Ala)
c.4207A>G (p.Thr1403Ala)
c.4885A>G (p.Thr1629Ala)
c.4534A>G (p.Thr1512Ala)
c.4834A>G (p.Thr1612Ala)
2g.120990547A>TCA348180148GLI2c.4582A>T (p.Thr1528Ser)
c.4633A>T (p.Thr1545Ser)
c.*3681A>T (n.*3681A>T)
c.*2544-43A>T (n.*2544-43A>T)
c.*3732A>T (n.*3732A>T)
c.*2493-43A>T (n.*2493-43A>T)
c.4615A>T (p.Thr1539Ser)
c.4492A>T (p.Thr1498Ser)
c.4438A>T (p.Thr1480Ser)
c.4258A>T (p.Thr1420Ser)
c.4207A>T (p.Thr1403Ser)
c.4885A>T (p.Thr1629Ser)
c.4534A>T (p.Thr1512Ser)
c.4834A>T (p.Thr1612Ser)
2g.120990548C>ACA348180149GLI2c.4583C>A (p.Thr1528Asn)
c.4634C>A (p.Thr1545Asn)
c.*3682C>A (n.*3682C>A)
c.*2544-42C>A (n.*2544-42C>A)
c.*3733C>A (n.*3733C>A)
c.*2493-42C>A (n.*2493-42C>A)
c.4616C>A (p.Thr1539Asn)
c.4493C>A (p.Thr1498Asn)
c.4439C>A (p.Thr1480Asn)
c.4259C>A (p.Thr1420Asn)
c.4208C>A (p.Thr1403Asn)
c.4886C>A (p.Thr1629Asn)
c.4535C>A (p.Thr1512Asn)
c.4835C>A (p.Thr1612Asn)
2g.120990548C>GCA348180150GLI2c.4583C>G (p.Thr1528Ser)
c.4634C>G (p.Thr1545Ser)
c.*3682C>G (n.*3682C>G)
c.*2544-42C>G (n.*2544-42C>G)
c.*3733C>G (n.*3733C>G)
c.*2493-42C>G (n.*2493-42C>G)
c.4616C>G (p.Thr1539Ser)
c.4493C>G (p.Thr1498Ser)
c.4439C>G (p.Thr1480Ser)
c.4259C>G (p.Thr1420Ser)
c.4208C>G (p.Thr1403Ser)
c.4886C>G (p.Thr1629Ser)
c.4535C>G (p.Thr1512Ser)
c.4835C>G (p.Thr1612Ser)
2g.120990548C>TCA348180151GLI2c.4583C>T (p.Thr1528Ile)
c.4634C>T (p.Thr1545Ile)
c.*3682C>T (n.*3682C>T)
c.*2544-42C>T (n.*2544-42C>T)
c.*3733C>T (n.*3733C>T)
c.*2493-42C>T (n.*2493-42C>T)
c.4616C>T (p.Thr1539Ile)
c.4493C>T (p.Thr1498Ile)
c.4439C>T (p.Thr1480Ile)
c.4259C>T (p.Thr1420Ile)
c.4208C>T (p.Thr1403Ile)
c.4886C>T (p.Thr1629Ile)
c.4535C>T (p.Thr1512Ile)
c.4835C>T (p.Thr1612Ile)
2g.120990549C>ACA428750746GLI2c.4584C>A (p.Thr1528=)
c.4635C>A (p.Thr1545=)
c.*3683C>A (n.*3683C>A)
c.*2544-41C>A (n.*2544-41C>A)
c.*3734C>A (n.*3734C>A)
c.*2493-41C>A (n.*2493-41C>A)
c.4617C>A (p.Thr1539=)
c.4494C>A (p.Thr1498=)
c.4440C>A (p.Thr1480=)
c.4260C>A (p.Thr1420=)
c.4209C>A (p.Thr1403=)
c.4887C>A (p.Thr1629=)
c.4536C>A (p.Thr1512=)
c.4836C>A (p.Thr1612=)
2g.120990549C>GCA428750744GLI2c.4584C>G (p.Thr1528=)
c.4635C>G (p.Thr1545=)
c.*3683C>G (n.*3683C>G)
c.*2544-41C>G (n.*2544-41C>G)
c.*3734C>G (n.*3734C>G)
c.*2493-41C>G (n.*2493-41C>G)
c.4617C>G (p.Thr1539=)
c.4494C>G (p.Thr1498=)
c.4440C>G (p.Thr1480=)
c.4260C>G (p.Thr1420=)
c.4209C>G (p.Thr1403=)
c.4887C>G (p.Thr1629=)
c.4536C>G (p.Thr1512=)
c.4836C>G (p.Thr1612=)
2g.120990549C>TCA428750745GLI2c.4584C>T (p.Thr1528=)
c.4635C>T (p.Thr1545=)
c.*3683C>T (n.*3683C>T)
c.*2544-41C>T (n.*2544-41C>T)
c.*3734C>T (n.*3734C>T)
c.*2493-41C>T (n.*2493-41C>T)
c.4617C>T (p.Thr1539=)
c.4494C>T (p.Thr1498=)
c.4440C>T (p.Thr1480=)
c.4260C>T (p.Thr1420=)
c.4209C>T (p.Thr1403=)
c.4887C>T (p.Thr1629=)
c.4536C>T (p.Thr1512=)
c.4836C>T (p.Thr1612=)
 gnomAD v4 COSMIC
2g.120990550A=CA1283796170GLI2c.4585A= (p.Thr1529=)
c.4636A= (p.Thr1546=)
c.*3684A= (n.*3684A=)
c.*2544-40A= (n.*2544-40A=)
c.*3735A= (n.*3735A=)
c.*2493-40A= (n.*2493-40A=)
c.4618A= (p.Thr1540=)
c.4495A= (p.Thr1499=)
c.4441A= (p.Thr1481=)
c.4261A= (p.Thr1421=)
c.4210A= (p.Thr1404=)
c.4888A= (p.Thr1630=)
c.4537A= (p.Thr1513=)
c.4837A= (p.Thr1613=)
2g.120990550A>CCA348180152GLI2c.4585A>C (p.Thr1529Pro)
c.4636A>C (p.Thr1546Pro)
c.*3684A>C (n.*3684A>C)
c.*2544-40A>C (n.*2544-40A>C)
c.*3735A>C (n.*3735A>C)
c.*2493-40A>C (n.*2493-40A>C)
c.4618A>C (p.Thr1540Pro)
c.4495A>C (p.Thr1499Pro)
c.4441A>C (p.Thr1481Pro)
c.4261A>C (p.Thr1421Pro)
c.4210A>C (p.Thr1404Pro)
c.4888A>C (p.Thr1630Pro)
c.4537A>C (p.Thr1513Pro)
c.4837A>C (p.Thr1613Pro)
 dbSNP
2g.120990550A>GCA348180153GLI2c.4585A>G (p.Thr1529Ala)
c.4636A>G (p.Thr1546Ala)
c.*3684A>G (n.*3684A>G)
c.*2544-40A>G (n.*2544-40A>G)
c.*3735A>G (n.*3735A>G)
c.*2493-40A>G (n.*2493-40A>G)
c.4618A>G (p.Thr1540Ala)
c.4495A>G (p.Thr1499Ala)
c.4441A>G (p.Thr1481Ala)
c.4261A>G (p.Thr1421Ala)
c.4210A>G (p.Thr1404Ala)
c.4888A>G (p.Thr1630Ala)
c.4537A>G (p.Thr1513Ala)
c.4837A>G (p.Thr1613Ala)
2g.120990550A>TCA348180154GLI2c.4585A>T (p.Thr1529Ser)
c.4636A>T (p.Thr1546Ser)
c.*3684A>T (n.*3684A>T)
c.*2544-40A>T (n.*2544-40A>T)
c.*3735A>T (n.*3735A>T)
c.*2493-40A>T (n.*2493-40A>T)
c.4618A>T (p.Thr1540Ser)
c.4495A>T (p.Thr1499Ser)
c.4441A>T (p.Thr1481Ser)
c.4261A>T (p.Thr1421Ser)
c.4210A>T (p.Thr1404Ser)
c.4888A>T (p.Thr1630Ser)
c.4537A>T (p.Thr1513Ser)
c.4837A>T (p.Thr1613Ser)
2g.120990550_120990551delinsACCA1283796169GLI2c.4585_4586delinsAC (p.Thr1529=)
c.4636_4637delinsAC (p.Thr1546=)
c.*3684_*3685delinsAC (n.*3684_*3685delinsAC)
c.*2544-40_*2544-39delinsAC (n.*2544-40_*2544-39delinsAC)
c.*3735_*3736delinsAC (n.*3735_*3736delinsAC)
c.*2493-40_*2493-39delinsAC (n.*2493-40_*2493-39delinsAC)
c.4618_4619delinsAC (p.Thr1540=)
c.4495_4496delinsAC (p.Thr1499=)
c.4441_4442delinsAC (p.Thr1481=)
c.4261_4262delinsAC (p.Thr1421=)
c.4210_4211delinsAC (p.Thr1404=)
c.4888_4889delinsAC (p.Thr1630=)
c.4537_4538delinsAC (p.Thr1513=)
c.4837_4838delinsAC (p.Thr1613=)
2g.120990551C>ACA1852669GLI2c.4586C>A (p.Thr1529Asn)
c.4637C>A (p.Thr1546Asn)
c.*3685C>A (n.*3685C>A)
c.*2544-39C>A (n.*2544-39C>A)
c.*3736C>A (n.*3736C>A)
c.*2493-39C>A (n.*2493-39C>A)
c.4619C>A (p.Thr1540Asn)
c.4496C>A (p.Thr1499Asn)
c.4442C>A (p.Thr1481Asn)
c.4262C>A (p.Thr1421Asn)
c.4211C>A (p.Thr1404Asn)
c.4889C>A (p.Thr1630Asn)
c.4538C>A (p.Thr1513Asn)
c.4838C>A (p.Thr1613Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120990551C=CA1283796171GLI2c.4586C= (p.Thr1529=)
c.4637C= (p.Thr1546=)
c.*3685C= (n.*3685C=)
c.*2544-39C= (n.*2544-39C=)
c.*3736C= (n.*3736C=)
c.*2493-39C= (n.*2493-39C=)
c.4619C= (p.Thr1540=)
c.4496C= (p.Thr1499=)
c.4442C= (p.Thr1481=)
c.4262C= (p.Thr1421=)
c.4211C= (p.Thr1404=)
c.4889C= (p.Thr1630=)
c.4538C= (p.Thr1513=)
c.4838C= (p.Thr1613=)
2g.120990551C>GCA348180155GLI2c.4586C>G (p.Thr1529Ser)
c.4637C>G (p.Thr1546Ser)
c.*3685C>G (n.*3685C>G)
c.*2544-39C>G (n.*2544-39C>G)
c.*3736C>G (n.*3736C>G)
c.*2493-39C>G (n.*2493-39C>G)
c.4619C>G (p.Thr1540Ser)
c.4496C>G (p.Thr1499Ser)
c.4442C>G (p.Thr1481Ser)
c.4262C>G (p.Thr1421Ser)
c.4211C>G (p.Thr1404Ser)
c.4889C>G (p.Thr1630Ser)
c.4538C>G (p.Thr1513Ser)
c.4838C>G (p.Thr1613Ser)
2g.120990551C>TCA1852668GLI2c.4586C>T (p.Thr1529Ile)
c.4637C>T (p.Thr1546Ile)
c.*3685C>T (n.*3685C>T)
c.*2544-39C>T (n.*2544-39C>T)
c.*3736C>T (n.*3736C>T)
c.*2493-39C>T (n.*2493-39C>T)
c.4619C>T (p.Thr1540Ile)
c.4496C>T (p.Thr1499Ile)
c.4442C>T (p.Thr1481Ile)
c.4262C>T (p.Thr1421Ile)
c.4211C>T (p.Thr1404Ile)
c.4889C>T (p.Thr1630Ile)
c.4538C>T (p.Thr1513Ile)
c.4838C>T (p.Thr1613Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.120990556dupCA645520584GLI2c.4591dup (p.Arg1531ProfsTer?)
c.4642dup (p.Arg1548ProfsTer?)
c.*3690dup (n.*3690dup)
c.*2544-34dup (n.*2544-34dup)
c.*3741dup (n.*3741dup)
c.*2493-34dup (n.*2493-34dup)
c.4624dup (p.Arg1542ProfsTer?)
c.4501dup (p.Arg1501ProfsTer?)
c.4447dup (p.Arg1483ProfsTer?)
c.4267dup (p.Arg1423ProfsTer?)
c.4216dup (p.Arg1406ProfsTer?)
c.4894dup (p.Arg1632ProfsTer?)
c.4543dup (p.Arg1515ProfsTer?)
c.4843dup (p.Arg1615ProfsTer?)
 gnomAD v4 COSMIC
2g.120990556delCA916636049GLI2c.4591del (p.Arg1531GlufsTer4)
c.4642del (p.Arg1548GlufsTer4)
c.*3690del (n.*3690del)
c.*2544-34del (n.*2544-34del)
c.*3741del (n.*3741del)
c.*2493-34del (n.*2493-34del)
c.4624del (p.Arg1542GlufsTer4)
c.4501del (p.Arg1501GlufsTer4)
c.4447del (p.Arg1483GlufsTer4)
c.4267del (p.Arg1423GlufsTer4)
c.4216del (p.Arg1406GlufsTer4)
c.4894del (p.Arg1632GlufsTer4)
c.4543del (p.Arg1515GlufsTer4)
c.4843del (p.Arg1615GlufsTer4)
 dbSNP
2g.120990552C>ACA428750747GLI2c.4587C>A (p.Thr1529=)
c.4638C>A (p.Thr1546=)
c.*3686C>A (n.*3686C>A)
c.*2544-38C>A (n.*2544-38C>A)
c.*3737C>A (n.*3737C>A)
c.*2493-38C>A (n.*2493-38C>A)
c.4620C>A (p.Thr1540=)
c.4497C>A (p.Thr1499=)
c.4443C>A (p.Thr1481=)
c.4263C>A (p.Thr1421=)
c.4212C>A (p.Thr1404=)
c.4890C>A (p.Thr1630=)
c.4539C>A (p.Thr1513=)
c.4839C>A (p.Thr1613=)
2g.120990552C=CA1283796172GLI2c.4587C= (p.Thr1529=)
c.4638C= (p.Thr1546=)
c.*3686C= (n.*3686C=)
c.*2544-38C= (n.*2544-38C=)
c.*3737C= (n.*3737C=)
c.*2493-38C= (n.*2493-38C=)
c.4620C= (p.Thr1540=)
c.4497C= (p.Thr1499=)
c.4443C= (p.Thr1481=)
c.4263C= (p.Thr1421=)
c.4212C= (p.Thr1404=)
c.4890C= (p.Thr1630=)
c.4539C= (p.Thr1513=)
c.4839C= (p.Thr1613=)
2g.120990552C>GCA428750748GLI2c.4587C>G (p.Thr1529=)
c.4638C>G (p.Thr1546=)
c.*3686C>G (n.*3686C>G)
c.*2544-38C>G (n.*2544-38C>G)
c.*3737C>G (n.*3737C>G)
c.*2493-38C>G (n.*2493-38C>G)
c.4620C>G (p.Thr1540=)
c.4497C>G (p.Thr1499=)
c.4443C>G (p.Thr1481=)
c.4263C>G (p.Thr1421=)
c.4212C>G (p.Thr1404=)
c.4890C>G (p.Thr1630=)
c.4539C>G (p.Thr1513=)
c.4839C>G (p.Thr1613=)
2g.120990552C>TCA428750749GLI2c.4587C>T (p.Thr1529=)
c.4638C>T (p.Thr1546=)
c.*3686C>T (n.*3686C>T)
c.*2544-38C>T (n.*2544-38C>T)
c.*3737C>T (n.*3737C>T)
c.*2493-38C>T (n.*2493-38C>T)
c.4620C>T (p.Thr1540=)
c.4497C>T (p.Thr1499=)
c.4443C>T (p.Thr1481=)
c.4263C>T (p.Thr1421=)
c.4212C>T (p.Thr1404=)
c.4890C>T (p.Thr1630=)
c.4539C>T (p.Thr1513=)
c.4839C>T (p.Thr1613=)
 dbSNP gnomAD v2 gnomAD v4
2g.120990553C>ACA348180156GLI2c.4588C>A (p.Pro1530Thr)
c.4639C>A (p.Pro1547Thr)
c.*3687C>A (n.*3687C>A)
c.*2544-37C>A (n.*2544-37C>A)
c.*3738C>A (n.*3738C>A)
c.*2493-37C>A (n.*2493-37C>A)
c.4621C>A (p.Pro1541Thr)
c.4498C>A (p.Pro1500Thr)
c.4444C>A (p.Pro1482Thr)
c.4264C>A (p.Pro1422Thr)
c.4213C>A (p.Pro1405Thr)
c.4891C>A (p.Pro1631Thr)
c.4540C>A (p.Pro1514Thr)
c.4840C>A (p.Pro1614Thr)
2g.120990553C>GCA348180157GLI2c.4588C>G (p.Pro1530Ala)
c.4639C>G (p.Pro1547Ala)
c.*3687C>G (n.*3687C>G)
c.*2544-37C>G (n.*2544-37C>G)
c.*3738C>G (n.*3738C>G)
c.*2493-37C>G (n.*2493-37C>G)
c.4621C>G (p.Pro1541Ala)
c.4498C>G (p.Pro1500Ala)
c.4444C>G (p.Pro1482Ala)
c.4264C>G (p.Pro1422Ala)
c.4213C>G (p.Pro1405Ala)
c.4891C>G (p.Pro1631Ala)
c.4540C>G (p.Pro1514Ala)
c.4840C>G (p.Pro1614Ala)
2g.120990553C>TCA348180158GLI2c.4588C>T (p.Pro1530Ser)
c.4639C>T (p.Pro1547Ser)
c.*3687C>T (n.*3687C>T)
c.*2544-37C>T (n.*2544-37C>T)
c.*3738C>T (n.*3738C>T)
c.*2493-37C>T (n.*2493-37C>T)
c.4621C>T (p.Pro1541Ser)
c.4498C>T (p.Pro1500Ser)
c.4444C>T (p.Pro1482Ser)
c.4264C>T (p.Pro1422Ser)
c.4213C>T (p.Pro1405Ser)
c.4891C>T (p.Pro1631Ser)
c.4540C>T (p.Pro1514Ser)
c.4840C>T (p.Pro1614Ser)
2g.120990554C>ACA1852671GLI2c.4589C>A (p.Pro1530His)
c.4640C>A (p.Pro1547His)
c.*3688C>A (n.*3688C>A)
c.*2544-36C>A (n.*2544-36C>A)
c.*3739C>A (n.*3739C>A)
c.*2493-36C>A (n.*2493-36C>A)
c.4622C>A (p.Pro1541His)
c.4499C>A (p.Pro1500His)
c.4445C>A (p.Pro1482His)
c.4265C>A (p.Pro1422His)
c.4214C>A (p.Pro1405His)
c.4892C>A (p.Pro1631His)
c.4541C>A (p.Pro1514His)
c.4841C>A (p.Pro1614His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.120990554C=CA1283796173GLI2c.4589C= (p.Pro1530=)
c.4640C= (p.Pro1547=)
c.*3688C= (n.*3688C=)
c.*2544-36C= (n.*2544-36C=)
c.*3739C= (n.*3739C=)
c.*2493-36C= (n.*2493-36C=)
c.4622C= (p.Pro1541=)
c.4499C= (p.Pro1500=)
c.4445C= (p.Pro1482=)
c.4265C= (p.Pro1422=)
c.4214C= (p.Pro1405=)
c.4892C= (p.Pro1631=)
c.4541C= (p.Pro1514=)
c.4841C= (p.Pro1614=)
2g.120990554C>GCA1852672GLI2c.4589C>G (p.Pro1530Arg)
c.4640C>G (p.Pro1547Arg)
c.*3688C>G (n.*3688C>G)
c.*2544-36C>G (n.*2544-36C>G)
c.*3739C>G (n.*3739C>G)
c.*2493-36C>G (n.*2493-36C>G)
c.4622C>G (p.Pro1541Arg)
c.4499C>G (p.Pro1500Arg)
c.4445C>G (p.Pro1482Arg)
c.4265C>G (p.Pro1422Arg)
c.4214C>G (p.Pro1405Arg)
c.4892C>G (p.Pro1631Arg)
c.4541C>G (p.Pro1514Arg)
c.4841C>G (p.Pro1614Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120990554C>TCA1852670GLI2c.4589C>T (p.Pro1530Leu)
c.4640C>T (p.Pro1547Leu)
c.*3688C>T (n.*3688C>T)
c.*2544-36C>T (n.*2544-36C>T)
c.*3739C>T (n.*3739C>T)
c.*2493-36C>T (n.*2493-36C>T)
c.4622C>T (p.Pro1541Leu)
c.4499C>T (p.Pro1500Leu)
c.4445C>T (p.Pro1482Leu)
c.4265C>T (p.Pro1422Leu)
c.4214C>T (p.Pro1405Leu)
c.4892C>T (p.Pro1631Leu)
c.4541C>T (p.Pro1514Leu)
c.4841C>T (p.Pro1614Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120990555C>ACA428750750GLI2c.4590C>A (p.Pro1530=)
c.4641C>A (p.Pro1547=)
c.*3689C>A (n.*3689C>A)
c.*2544-35C>A (n.*2544-35C>A)
c.*3740C>A (n.*3740C>A)
c.*2493-35C>A (n.*2493-35C>A)
c.4623C>A (p.Pro1541=)
c.4500C>A (p.Pro1500=)
c.4446C>A (p.Pro1482=)
c.4266C>A (p.Pro1422=)
c.4215C>A (p.Pro1405=)
c.4893C>A (p.Pro1631=)
c.4542C>A (p.Pro1514=)
c.4842C>A (p.Pro1614=)
2g.120990555C=CA1283796174GLI2c.4590C= (p.Pro1530=)
c.4641C= (p.Pro1547=)
c.*3689C= (n.*3689C=)
c.*2544-35C= (n.*2544-35C=)
c.*3740C= (n.*3740C=)
c.*2493-35C= (n.*2493-35C=)
c.4623C= (p.Pro1541=)
c.4500C= (p.Pro1500=)
c.4446C= (p.Pro1482=)
c.4266C= (p.Pro1422=)
c.4215C= (p.Pro1405=)
c.4893C= (p.Pro1631=)
c.4542C= (p.Pro1514=)
c.4842C= (p.Pro1614=)
2g.120990555C>GCA428750751GLI2c.4590C>G (p.Pro1530=)
c.4641C>G (p.Pro1547=)
c.*3689C>G (n.*3689C>G)
c.*2544-35C>G (n.*2544-35C>G)
c.*3740C>G (n.*3740C>G)
c.*2493-35C>G (n.*2493-35C>G)
c.4623C>G (p.Pro1541=)
c.4500C>G (p.Pro1500=)
c.4446C>G (p.Pro1482=)
c.4266C>G (p.Pro1422=)
c.4215C>G (p.Pro1405=)
c.4893C>G (p.Pro1631=)
c.4542C>G (p.Pro1514=)
c.4842C>G (p.Pro1614=)
 gnomAD v4
2g.120990555C>TCA1852673GLI2c.4590C>T (p.Pro1530=)
c.4641C>T (p.Pro1547=)
c.*3689C>T (n.*3689C>T)
c.*2544-35C>T (n.*2544-35C>T)
c.*3740C>T (n.*3740C>T)
c.*2493-35C>T (n.*2493-35C>T)
c.4623C>T (p.Pro1541=)
c.4500C>T (p.Pro1500=)
c.4446C>T (p.Pro1482=)
c.4266C>T (p.Pro1422=)
c.4215C>T (p.Pro1405=)
c.4893C>T (p.Pro1631=)
c.4542C>T (p.Pro1514=)
c.4842C>T (p.Pro1614=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.120990556C>ACA428750752GLI2c.4591C>A (p.Arg1531=)
c.4642C>A (p.Arg1548=)
c.*3690C>A (n.*3690C>A)
c.*2544-34C>A (n.*2544-34C>A)
c.*3741C>A (n.*3741C>A)
c.*2493-34C>A (n.*2493-34C>A)
c.4624C>A (p.Arg1542=)
c.4501C>A (p.Arg1501=)
c.4447C>A (p.Arg1483=)
c.4267C>A (p.Arg1423=)
c.4216C>A (p.Arg1406=)
c.4894C>A (p.Arg1632=)
c.4543C>A (p.Arg1515=)
c.4843C>A (p.Arg1615=)
2g.120990556C=CA1283796175GLI2c.4591C= (p.Arg1531=)
c.4642C= (p.Arg1548=)
c.*3690C= (n.*3690C=)
c.*2544-34C= (n.*2544-34C=)
c.*3741C= (n.*3741C=)
c.*2493-34C= (n.*2493-34C=)
c.4624C= (p.Arg1542=)
c.4501C= (p.Arg1501=)
c.4447C= (p.Arg1483=)
c.4267C= (p.Arg1423=)
c.4216C= (p.Arg1406=)
c.4894C= (p.Arg1632=)
c.4543C= (p.Arg1515=)
c.4843C= (p.Arg1615=)
2g.120990556C>GCA348180159GLI2c.4591C>G (p.Arg1531Gly)
c.4642C>G (p.Arg1548Gly)
c.*3690C>G (n.*3690C>G)
c.*2544-34C>G (n.*2544-34C>G)
c.*3741C>G (n.*3741C>G)
c.*2493-34C>G (n.*2493-34C>G)
c.4624C>G (p.Arg1542Gly)
c.4501C>G (p.Arg1501Gly)
c.4447C>G (p.Arg1483Gly)
c.4267C>G (p.Arg1423Gly)
c.4216C>G (p.Arg1406Gly)
c.4894C>G (p.Arg1632Gly)
c.4543C>G (p.Arg1515Gly)
c.4843C>G (p.Arg1615Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.120990556C>TCA348180160GLI2c.4591C>T (p.Arg1531Ter)
c.4642C>T (p.Arg1548Ter)
c.*3690C>T (n.*3690C>T)
c.*2544-34C>T (n.*2544-34C>T)
c.*3741C>T (n.*3741C>T)
c.*2493-34C>T (n.*2493-34C>T)
c.4624C>T (p.Arg1542Ter)
c.4501C>T (p.Arg1501Ter)
c.4447C>T (p.Arg1483Ter)
c.4267C>T (p.Arg1423Ter)
c.4216C>T (p.Arg1406Ter)
c.4894C>T (p.Arg1632Ter)
c.4543C>T (p.Arg1515Ter)
c.4843C>T (p.Arg1615Ter)
 ClinVar dbSNP
2g.120990557G>ACA1852674GLI2c.4592G>A (p.Arg1531Gln)
c.4643G>A (p.Arg1548Gln)
c.*3691G>A (n.*3691G>A)
c.*2544-33G>A (n.*2544-33G>A)
c.*3742G>A (n.*3742G>A)
c.*2493-33G>A (n.*2493-33G>A)
c.4625G>A (p.Arg1542Gln)
c.4502G>A (p.Arg1501Gln)
c.4448G>A (p.Arg1483Gln)
c.4268G>A (p.Arg1423Gln)
c.4217G>A (p.Arg1406Gln)
c.4895G>A (p.Arg1632Gln)
c.4544G>A (p.Arg1515Gln)
c.4844G>A (p.Arg1615Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.120990557G>CCA348180161GLI2c.4592G>C (p.Arg1531Pro)
c.4643G>C (p.Arg1548Pro)
c.*3691G>C (n.*3691G>C)
c.*2544-33G>C (n.*2544-33G>C)
c.*3742G>C (n.*3742G>C)
c.*2493-33G>C (n.*2493-33G>C)
c.4625G>C (p.Arg1542Pro)
c.4502G>C (p.Arg1501Pro)
c.4448G>C (p.Arg1483Pro)
c.4268G>C (p.Arg1423Pro)
c.4217G>C (p.Arg1406Pro)
c.4895G>C (p.Arg1632Pro)
c.4544G>C (p.Arg1515Pro)
c.4844G>C (p.Arg1615Pro)
 dbSNP
2g.120990557G=CA1283796176GLI2c.4592G= (p.Arg1531=)
c.4643G= (p.Arg1548=)
c.*3691G= (n.*3691G=)
c.*2544-33G= (n.*2544-33G=)
c.*3742G= (n.*3742G=)
c.*2493-33G= (n.*2493-33G=)
c.4625G= (p.Arg1542=)
c.4502G= (p.Arg1501=)
c.4448G= (p.Arg1483=)
c.4268G= (p.Arg1423=)
c.4217G= (p.Arg1406=)
c.4895G= (p.Arg1632=)
c.4544G= (p.Arg1515=)
c.4844G= (p.Arg1615=)
2g.120990557G>TCA348180162GLI2c.4592G>T (p.Arg1531Leu)
c.4643G>T (p.Arg1548Leu)
c.*3691G>T (n.*3691G>T)
c.*2544-33G>T (n.*2544-33G>T)
c.*3742G>T (n.*3742G>T)
c.*2493-33G>T (n.*2493-33G>T)
c.4625G>T (p.Arg1542Leu)
c.4502G>T (p.Arg1501Leu)
c.4448G>T (p.Arg1483Leu)
c.4268G>T (p.Arg1423Leu)
c.4217G>T (p.Arg1406Leu)
c.4895G>T (p.Arg1632Leu)
c.4544G>T (p.Arg1515Leu)
c.4844G>T (p.Arg1615Leu)
 dbSNP
2g.120990558A>CCA428750753GLI2c.4593A>C (p.Arg1531=)
c.4644A>C (p.Arg1548=)
c.*3692A>C (n.*3692A>C)
c.*2544-32A>C (n.*2544-32A>C)
c.*3743A>C (n.*3743A>C)
c.*2493-32A>C (n.*2493-32A>C)
c.4626A>C (p.Arg1542=)
c.4503A>C (p.Arg1501=)
c.4449A>C (p.Arg1483=)
c.4269A>C (p.Arg1423=)
c.4218A>C (p.Arg1406=)
c.4896A>C (p.Arg1632=)
c.4545A>C (p.Arg1515=)
c.4845A>C (p.Arg1615=)
 dbSNP
2g.120990558A>GCA428750754GLI2c.4593A>G (p.Arg1531=)
c.4644A>G (p.Arg1548=)
c.*3692A>G (n.*3692A>G)
c.*2544-32A>G (n.*2544-32A>G)
c.*3743A>G (n.*3743A>G)
c.*2493-32A>G (n.*2493-32A>G)
c.4626A>G (p.Arg1542=)
c.4503A>G (p.Arg1501=)
c.4449A>G (p.Arg1483=)
c.4269A>G (p.Arg1423=)
c.4218A>G (p.Arg1406=)
c.4896A>G (p.Arg1632=)
c.4545A>G (p.Arg1515=)
c.4845A>G (p.Arg1615=)
2g.120990558A>TCA428750755GLI2c.4593A>T (p.Arg1531=)
c.4644A>T (p.Arg1548=)
c.*3692A>T (n.*3692A>T)
c.*2544-32A>T (n.*2544-32A>T)
c.*3743A>T (n.*3743A>T)
c.*2493-32A>T (n.*2493-32A>T)
c.4626A>T (p.Arg1542=)
c.4503A>T (p.Arg1501=)
c.4449A>T (p.Arg1483=)
c.4269A>T (p.Arg1423=)
c.4218A>T (p.Arg1406=)
c.4896A>T (p.Arg1632=)
c.4545A>T (p.Arg1515=)
c.4845A>T (p.Arg1615=)
2g.120990559A=CA1283796177GLI2c.4594A= (p.Asn1532=)
c.4645A= (p.Asn1549=)
c.*3693A= (n.*3693A=)
c.*2544-31A= (n.*2544-31A=)
c.*3744A= (n.*3744A=)
c.*2493-31A= (n.*2493-31A=)
c.4627A= (p.Asn1543=)
c.4504A= (p.Asn1502=)
c.4450A= (p.Asn1484=)
c.4270A= (p.Asn1424=)
c.4219A= (p.Asn1407=)
c.4897A= (p.Asn1633=)
c.4546A= (p.Asn1516=)
c.4846A= (p.Asn1616=)
2g.120990559A>CCA348180165GLI2c.4594A>C (p.Asn1532His)
c.4645A>C (p.Asn1549His)
c.*3693A>C (n.*3693A>C)
c.*2544-31A>C (n.*2544-31A>C)
c.*3744A>C (n.*3744A>C)
c.*2493-31A>C (n.*2493-31A>C)
c.4627A>C (p.Asn1543His)
c.4504A>C (p.Asn1502His)
c.4450A>C (p.Asn1484His)
c.4270A>C (p.Asn1424His)
c.4219A>C (p.Asn1407His)
c.4897A>C (p.Asn1633His)
c.4546A>C (p.Asn1516His)
c.4846A>C (p.Asn1616His)
2g.120990559A>GCA348180164GLI2c.4594A>G (p.Asn1532Asp)
c.4645A>G (p.Asn1549Asp)
c.*3693A>G (n.*3693A>G)
c.*2544-31A>G (n.*2544-31A>G)
c.*3744A>G (n.*3744A>G)
c.*2493-31A>G (n.*2493-31A>G)
c.4627A>G (p.Asn1543Asp)
c.4504A>G (p.Asn1502Asp)
c.4450A>G (p.Asn1484Asp)
c.4270A>G (p.Asn1424Asp)
c.4219A>G (p.Asn1407Asp)
c.4897A>G (p.Asn1633Asp)
c.4546A>G (p.Asn1516Asp)
c.4846A>G (p.Asn1616Asp)
2g.120990559A>TCA348180163GLI2c.4594A>T (p.Asn1532Tyr)
c.4645A>T (p.Asn1549Tyr)
c.*3693A>T (n.*3693A>T)
c.*2544-31A>T (n.*2544-31A>T)
c.*3744A>T (n.*3744A>T)
c.*2493-31A>T (n.*2493-31A>T)
c.4627A>T (p.Asn1543Tyr)
c.4504A>T (p.Asn1502Tyr)
c.4450A>T (p.Asn1484Tyr)
c.4270A>T (p.Asn1424Tyr)
c.4219A>T (p.Asn1407Tyr)
c.4897A>T (p.Asn1633Tyr)
c.4546A>T (p.Asn1516Tyr)
c.4846A>T (p.Asn1616Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.120990560A>CCA348180167GLI2c.4595A>C (p.Asn1532Thr)
c.4646A>C (p.Asn1549Thr)
c.*3694A>C (n.*3694A>C)
c.*2544-30A>C (n.*2544-30A>C)
c.*3745A>C (n.*3745A>C)
c.*2493-30A>C (n.*2493-30A>C)
c.4628A>C (p.Asn1543Thr)
c.4505A>C (p.Asn1502Thr)
c.4451A>C (p.Asn1484Thr)
c.4271A>C (p.Asn1424Thr)
c.4220A>C (p.Asn1407Thr)
c.4898A>C (p.Asn1633Thr)
c.4547A>C (p.Asn1516Thr)
c.4847A>C (p.Asn1616Thr)
 gnomAD v3 gnomAD v4
2g.120990560A>GCA348180166GLI2c.4595A>G (p.Asn1532Ser)
c.4646A>G (p.Asn1549Ser)
c.*3694A>G (n.*3694A>G)
c.*2544-30A>G (n.*2544-30A>G)
c.*3745A>G (n.*3745A>G)
c.*2493-30A>G (n.*2493-30A>G)
c.4628A>G (p.Asn1543Ser)
c.4505A>G (p.Asn1502Ser)
c.4451A>G (p.Asn1484Ser)
c.4271A>G (p.Asn1424Ser)
c.4220A>G (p.Asn1407Ser)
c.4898A>G (p.Asn1633Ser)
c.4547A>G (p.Asn1516Ser)
c.4847A>G (p.Asn1616Ser)
2g.120990560A>TCA348180168GLI2c.4595A>T (p.Asn1532Ile)
c.4646A>T (p.Asn1549Ile)
c.*3694A>T (n.*3694A>T)
c.*2544-30A>T (n.*2544-30A>T)
c.*3745A>T (n.*3745A>T)
c.*2493-30A>T (n.*2493-30A>T)
c.4628A>T (p.Asn1543Ile)
c.4505A>T (p.Asn1502Ile)
c.4451A>T (p.Asn1484Ile)
c.4271A>T (p.Asn1424Ile)
c.4220A>T (p.Asn1407Ile)
c.4898A>T (p.Asn1633Ile)
c.4547A>T (p.Asn1516Ile)
c.4847A>T (p.Asn1616Ile)
2g.120990561C>ACA348180169GLI2c.4596C>A (p.Asn1532Lys)
c.4647C>A (p.Asn1549Lys)
c.*3695C>A (n.*3695C>A)
c.*2544-29C>A (n.*2544-29C>A)
c.*3746C>A (n.*3746C>A)
c.*2493-29C>A (n.*2493-29C>A)
c.4629C>A (p.Asn1543Lys)
c.4506C>A (p.Asn1502Lys)
c.4452C>A (p.Asn1484Lys)
c.4272C>A (p.Asn1424Lys)
c.4221C>A (p.Asn1407Lys)
c.4899C>A (p.Asn1633Lys)
c.4548C>A (p.Asn1516Lys)
c.4848C>A (p.Asn1616Lys)
2g.120990561C=CA1283796178GLI2c.4596C= (p.Asn1532=)
c.4647C= (p.Asn1549=)
c.*3695C= (n.*3695C=)
c.*2544-29C= (n.*2544-29C=)
c.*3746C= (n.*3746C=)
c.*2493-29C= (n.*2493-29C=)
c.4629C= (p.Asn1543=)
c.4506C= (p.Asn1502=)
c.4452C= (p.Asn1484=)
c.4272C= (p.Asn1424=)
c.4221C= (p.Asn1407=)
c.4899C= (p.Asn1633=)
c.4548C= (p.Asn1516=)
c.4848C= (p.Asn1616=)
2g.120990561C>GCA1852675GLI2c.4596C>G (p.Asn1532Lys)
c.4647C>G (p.Asn1549Lys)
c.*3695C>G (n.*3695C>G)
c.*2544-29C>G (n.*2544-29C>G)
c.*3746C>G (n.*3746C>G)
c.*2493-29C>G (n.*2493-29C>G)
c.4629C>G (p.Asn1543Lys)
c.4506C>G (p.Asn1502Lys)
c.4452C>G (p.Asn1484Lys)
c.4272C>G (p.Asn1424Lys)
c.4221C>G (p.Asn1407Lys)
c.4899C>G (p.Asn1633Lys)
c.4548C>G (p.Asn1516Lys)
c.4848C>G (p.Asn1616Lys)
 dbSNP ExAC gnomAD v2
2g.120990561C>TCA428750756GLI2c.4596C>T (p.Asn1532=)
c.4647C>T (p.Asn1549=)
c.*3695C>T (n.*3695C>T)
c.*2544-29C>T (n.*2544-29C>T)
c.*3746C>T (n.*3746C>T)
c.*2493-29C>T (n.*2493-29C>T)
c.4629C>T (p.Asn1543=)
c.4506C>T (p.Asn1502=)
c.4452C>T (p.Asn1484=)
c.4272C>T (p.Asn1424=)
c.4221C>T (p.Asn1407=)
c.4899C>T (p.Asn1633=)
c.4548C>T (p.Asn1516=)
c.4848C>T (p.Asn1616=)
 dbSNP gnomAD v4
2g.120990562T>ACA348180170GLI2c.4597T>A (p.Ser1533Thr)
c.4648T>A (p.Ser1550Thr)
c.*3696T>A (n.*3696T>A)
c.*2544-28T>A (n.*2544-28T>A)
c.*3747T>A (n.*3747T>A)
c.*2493-28T>A (n.*2493-28T>A)
c.4630T>A (p.Ser1544Thr)
c.4507T>A (p.Ser1503Thr)
c.4453T>A (p.Ser1485Thr)
c.4273T>A (p.Ser1425Thr)
c.4222T>A (p.Ser1408Thr)
c.4900T>A (p.Ser1634Thr)
c.4549T>A (p.Ser1517Thr)
c.4849T>A (p.Ser1617Thr)
2g.120990562T>CCA348180171GLI2c.4597T>C (p.Ser1533Pro)
c.4648T>C (p.Ser1550Pro)
c.*3696T>C (n.*3696T>C)
c.*2544-28T>C (n.*2544-28T>C)
c.*3747T>C (n.*3747T>C)
c.*2493-28T>C (n.*2493-28T>C)
c.4630T>C (p.Ser1544Pro)
c.4507T>C (p.Ser1503Pro)
c.4453T>C (p.Ser1485Pro)
c.4273T>C (p.Ser1425Pro)
c.4222T>C (p.Ser1408Pro)
c.4900T>C (p.Ser1634Pro)
c.4549T>C (p.Ser1517Pro)
c.4849T>C (p.Ser1617Pro)
2g.120990562T>GCA348180172GLI2c.4597T>G (p.Ser1533Ala)
c.4648T>G (p.Ser1550Ala)
c.*3696T>G (n.*3696T>G)
c.*2544-28T>G (n.*2544-28T>G)
c.*3747T>G (n.*3747T>G)
c.*2493-28T>G (n.*2493-28T>G)
c.4630T>G (p.Ser1544Ala)
c.4507T>G (p.Ser1503Ala)
c.4453T>G (p.Ser1485Ala)
c.4273T>G (p.Ser1425Ala)
c.4222T>G (p.Ser1408Ala)
c.4900T>G (p.Ser1634Ala)
c.4549T>G (p.Ser1517Ala)
c.4849T>G (p.Ser1617Ala)
2g.120990563C>ACA348180173GLI2c.4598C>A (p.Ser1533Tyr)
c.4649C>A (p.Ser1550Tyr)
c.*3697C>A (n.*3697C>A)
c.*2544-27C>A (n.*2544-27C>A)
c.*3748C>A (n.*3748C>A)
c.*2493-27C>A (n.*2493-27C>A)
c.4631C>A (p.Ser1544Tyr)
c.4508C>A (p.Ser1503Tyr)
c.4454C>A (p.Ser1485Tyr)
c.4274C>A (p.Ser1425Tyr)
c.4223C>A (p.Ser1408Tyr)
c.4901C>A (p.Ser1634Tyr)
c.4550C>A (p.Ser1517Tyr)
c.4850C>A (p.Ser1617Tyr)
2g.120990563C>GCA348180174GLI2c.4598C>G (p.Ser1533Cys)
c.4649C>G (p.Ser1550Cys)
c.*3697C>G (n.*3697C>G)
c.*2544-27C>G (n.*2544-27C>G)
c.*3748C>G (n.*3748C>G)
c.*2493-27C>G (n.*2493-27C>G)
c.4631C>G (p.Ser1544Cys)
c.4508C>G (p.Ser1503Cys)
c.4454C>G (p.Ser1485Cys)
c.4274C>G (p.Ser1425Cys)
c.4223C>G (p.Ser1408Cys)
c.4901C>G (p.Ser1634Cys)
c.4550C>G (p.Ser1517Cys)
c.4850C>G (p.Ser1617Cys)
2g.120990563C>TCA348180175GLI2c.4598C>T (p.Ser1533Phe)
c.4649C>T (p.Ser1550Phe)
c.*3697C>T (n.*3697C>T)
c.*2544-27C>T (n.*2544-27C>T)
c.*3748C>T (n.*3748C>T)
c.*2493-27C>T (n.*2493-27C>T)
c.4631C>T (p.Ser1544Phe)
c.4508C>T (p.Ser1503Phe)
c.4454C>T (p.Ser1485Phe)
c.4274C>T (p.Ser1425Phe)
c.4223C>T (p.Ser1408Phe)
c.4901C>T (p.Ser1634Phe)
c.4550C>T (p.Ser1517Phe)
c.4850C>T (p.Ser1617Phe)
2g.120990564C>ACA428750757GLI2c.4599C>A (p.Ser1533=)
c.4650C>A (p.Ser1550=)
c.*3698C>A (n.*3698C>A)
c.*2544-26C>A (n.*2544-26C>A)
c.*3749C>A (n.*3749C>A)
c.*2493-26C>A (n.*2493-26C>A)
c.4632C>A (p.Ser1544=)
c.4509C>A (p.Ser1503=)
c.4455C>A (p.Ser1485=)
c.4275C>A (p.Ser1425=)
c.4224C>A (p.Ser1408=)
c.4902C>A (p.Ser1634=)
c.4551C>A (p.Ser1517=)
c.4851C>A (p.Ser1617=)
2g.120990564C>GCA428750758GLI2c.4599C>G (p.Ser1533=)
c.4650C>G (p.Ser1550=)
c.*3698C>G (n.*3698C>G)
c.*2544-26C>G (n.*2544-26C>G)
c.*3749C>G (n.*3749C>G)
c.*2493-26C>G (n.*2493-26C>G)
c.4632C>G (p.Ser1544=)
c.4509C>G (p.Ser1503=)
c.4455C>G (p.Ser1485=)
c.4275C>G (p.Ser1425=)
c.4224C>G (p.Ser1408=)
c.4902C>G (p.Ser1634=)
c.4551C>G (p.Ser1517=)
c.4851C>G (p.Ser1617=)
2g.120990564C>TCA428750759GLI2c.4599C>T (p.Ser1533=)
c.4650C>T (p.Ser1550=)
c.*3698C>T (n.*3698C>T)
c.*2544-26C>T (n.*2544-26C>T)
c.*3749C>T (n.*3749C>T)
c.*2493-26C>T (n.*2493-26C>T)
c.4632C>T (p.Ser1544=)
c.4509C>T (p.Ser1503=)
c.4455C>T (p.Ser1485=)
c.4275C>T (p.Ser1425=)
c.4224C>T (p.Ser1408=)
c.4902C>T (p.Ser1634=)
c.4551C>T (p.Ser1517=)
c.4851C>T (p.Ser1617=)
2g.120990565T>ACA348180176GLI2c.4600T>A (p.Leu1534Met)
c.4651T>A (p.Leu1551Met)
c.*3699T>A (n.*3699T>A)
c.*2544-25T>A (n.*2544-25T>A)
c.*3750T>A (n.*3750T>A)
c.*2493-25T>A (n.*2493-25T>A)
c.4633T>A (p.Leu1545Met)
c.4510T>A (p.Leu1504Met)
c.4456T>A (p.Leu1486Met)
c.4276T>A (p.Leu1426Met)
c.4225T>A (p.Leu1409Met)
c.4903T>A (p.Leu1635Met)
c.4552T>A (p.Leu1518Met)
c.4852T>A (p.Leu1618Met)
2g.120990565T>CCA428750760GLI2c.4600T>C (p.Leu1534=)
c.4651T>C (p.Leu1551=)
c.*3699T>C (n.*3699T>C)
c.*2544-25T>C (n.*2544-25T>C)
c.*3750T>C (n.*3750T>C)
c.*2493-25T>C (n.*2493-25T>C)
c.4633T>C (p.Leu1545=)
c.4510T>C (p.Leu1504=)
c.4456T>C (p.Leu1486=)
c.4276T>C (p.Leu1426=)
c.4225T>C (p.Leu1409=)
c.4903T>C (p.Leu1635=)
c.4552T>C (p.Leu1518=)
c.4852T>C (p.Leu1618=)
 dbSNP
2g.120990565T>GCA348180177GLI2c.4600T>G (p.Leu1534Val)
c.4651T>G (p.Leu1551Val)
c.*3699T>G (n.*3699T>G)
c.*2544-25T>G (n.*2544-25T>G)
c.*3750T>G (n.*3750T>G)
c.*2493-25T>G (n.*2493-25T>G)
c.4633T>G (p.Leu1545Val)
c.4510T>G (p.Leu1504Val)
c.4456T>G (p.Leu1486Val)
c.4276T>G (p.Leu1426Val)
c.4225T>G (p.Leu1409Val)
c.4903T>G (p.Leu1635Val)
c.4552T>G (p.Leu1518Val)
c.4852T>G (p.Leu1618Val)
2g.120990565T=CA1283796179GLI2c.4600T= (p.Leu1534=)
c.4651T= (p.Leu1551=)
c.*3699T= (n.*3699T=)
c.*2544-25T= (n.*2544-25T=)
c.*3750T= (n.*3750T=)
c.*2493-25T= (n.*2493-25T=)
c.4633T= (p.Leu1545=)
c.4510T= (p.Leu1504=)
c.4456T= (p.Leu1486=)
c.4276T= (p.Leu1426=)
c.4225T= (p.Leu1409=)
c.4903T= (p.Leu1635=)
c.4552T= (p.Leu1518=)
c.4852T= (p.Leu1618=)
2g.120990566T>ACA348180178GLI2c.4601T>A (p.Leu1534Ter)
c.4652T>A (p.Leu1551Ter)
c.*3700T>A (n.*3700T>A)
c.*2544-24T>A (n.*2544-24T>A)
c.*3751T>A (n.*3751T>A)
c.*2493-24T>A (n.*2493-24T>A)
c.4634T>A (p.Leu1545Ter)
c.4511T>A (p.Leu1504Ter)
c.4457T>A (p.Leu1486Ter)
c.4277T>A (p.Leu1426Ter)
c.4226T>A (p.Leu1409Ter)
c.4904T>A (p.Leu1635Ter)
c.4553T>A (p.Leu1518Ter)
c.4853T>A (p.Leu1618Ter)
2g.120990566T>CCA348180179GLI2c.4601T>C (p.Leu1534Ser)
c.4652T>C (p.Leu1551Ser)
c.*3700T>C (n.*3700T>C)
c.*2544-24T>C (n.*2544-24T>C)
c.*3751T>C (n.*3751T>C)
c.*2493-24T>C (n.*2493-24T>C)
c.4634T>C (p.Leu1545Ser)
c.4511T>C (p.Leu1504Ser)
c.4457T>C (p.Leu1486Ser)
c.4277T>C (p.Leu1426Ser)
c.4226T>C (p.Leu1409Ser)
c.4904T>C (p.Leu1635Ser)
c.4553T>C (p.Leu1518Ser)
c.4853T>C (p.Leu1618Ser)
 dbSNP gnomAD v4
2g.120990566T>GCA348180180GLI2c.4601T>G (p.Leu1534Trp)
c.4652T>G (p.Leu1551Trp)
c.*3700T>G (n.*3700T>G)
c.*2544-24T>G (n.*2544-24T>G)
c.*3751T>G (n.*3751T>G)
c.*2493-24T>G (n.*2493-24T>G)
c.4634T>G (p.Leu1545Trp)
c.4511T>G (p.Leu1504Trp)
c.4457T>G (p.Leu1486Trp)
c.4277T>G (p.Leu1426Trp)
c.4226T>G (p.Leu1409Trp)
c.4904T>G (p.Leu1635Trp)
c.4553T>G (p.Leu1518Trp)
c.4853T>G (p.Leu1618Trp)
2g.120990566T=CA1283796180GLI2c.4601T= (p.Leu1534=)
c.4652T= (p.Leu1551=)
c.*3700T= (n.*3700T=)
c.*2544-24T= (n.*2544-24T=)
c.*3751T= (n.*3751T=)
c.*2493-24T= (n.*2493-24T=)
c.4634T= (p.Leu1545=)
c.4511T= (p.Leu1504=)
c.4457T= (p.Leu1486=)
c.4277T= (p.Leu1426=)
c.4226T= (p.Leu1409=)
c.4904T= (p.Leu1635=)
c.4553T= (p.Leu1518=)
c.4853T= (p.Leu1618=)
2g.120990567G>ACA428750761GLI2c.4602G>A (p.Leu1534=)
c.4653G>A (p.Leu1551=)
c.*3701G>A (n.*3701G>A)
c.*2544-23G>A (n.*2544-23G>A)
c.*3752G>A (n.*3752G>A)
c.*2493-23G>A (n.*2493-23G>A)
c.4635G>A (p.Leu1545=)
c.4512G>A (p.Leu1504=)
c.4458G>A (p.Leu1486=)
c.4278G>A (p.Leu1426=)
c.4227G>A (p.Leu1409=)
c.4905G>A (p.Leu1635=)
c.4554G>A (p.Leu1518=)
c.4854G>A (p.Leu1618=)
 gnomAD v4
2g.120990567G>CCA348180182GLI2c.4602G>C (p.Leu1534Phe)
c.4653G>C (p.Leu1551Phe)
c.*3701G>C (n.*3701G>C)
c.*2544-23G>C (n.*2544-23G>C)
c.*3752G>C (n.*3752G>C)
c.*2493-23G>C (n.*2493-23G>C)
c.4635G>C (p.Leu1545Phe)
c.4512G>C (p.Leu1504Phe)
c.4458G>C (p.Leu1486Phe)
c.4278G>C (p.Leu1426Phe)
c.4227G>C (p.Leu1409Phe)
c.4905G>C (p.Leu1635Phe)
c.4554G>C (p.Leu1518Phe)
c.4854G>C (p.Leu1618Phe)
2g.120990567G>TCA348180181GLI2c.4602G>T (p.Leu1534Phe)
c.4653G>T (p.Leu1551Phe)
c.*3701G>T (n.*3701G>T)
c.*2544-23G>T (n.*2544-23G>T)
c.*3752G>T (n.*3752G>T)
c.*2493-23G>T (n.*2493-23G>T)
c.4635G>T (p.Leu1545Phe)
c.4512G>T (p.Leu1504Phe)
c.4458G>T (p.Leu1486Phe)
c.4278G>T (p.Leu1426Phe)
c.4227G>T (p.Leu1409Phe)
c.4905G>T (p.Leu1635Phe)
c.4554G>T (p.Leu1518Phe)
c.4854G>T (p.Leu1618Phe)
2g.120990568A=CA1283796181GLI2c.4603A= (p.Thr1535=)
c.4654A= (p.Thr1552=)
c.*3702A= (n.*3702A=)
c.*2544-22A= (n.*2544-22A=)
c.*3753A= (n.*3753A=)
c.*2493-22A= (n.*2493-22A=)
c.4636A= (p.Thr1546=)
c.4513A= (p.Thr1505=)
c.4459A= (p.Thr1487=)
c.4279A= (p.Thr1427=)
c.4228A= (p.Thr1410=)
c.4906A= (p.Thr1636=)
c.4555A= (p.Thr1519=)
c.4855A= (p.Thr1619=)
2g.120990568A>CCA348180183GLI2c.4603A>C (p.Thr1535Pro)
c.4654A>C (p.Thr1552Pro)
c.*3702A>C (n.*3702A>C)
c.*2544-22A>C (n.*2544-22A>C)
c.*3753A>C (n.*3753A>C)
c.*2493-22A>C (n.*2493-22A>C)
c.4636A>C (p.Thr1546Pro)
c.4513A>C (p.Thr1505Pro)
c.4459A>C (p.Thr1487Pro)
c.4279A>C (p.Thr1427Pro)
c.4228A>C (p.Thr1410Pro)
c.4906A>C (p.Thr1636Pro)
c.4555A>C (p.Thr1519Pro)
c.4855A>C (p.Thr1619Pro)
2g.120990568A>GCA348180184GLI2c.4603A>G (p.Thr1535Ala)
c.4654A>G (p.Thr1552Ala)
c.*3702A>G (n.*3702A>G)
c.*2544-22A>G (n.*2544-22A>G)
c.*3753A>G (n.*3753A>G)
c.*2493-22A>G (n.*2493-22A>G)
c.4636A>G (p.Thr1546Ala)
c.4513A>G (p.Thr1505Ala)
c.4459A>G (p.Thr1487Ala)
c.4279A>G (p.Thr1427Ala)
c.4228A>G (p.Thr1410Ala)
c.4906A>G (p.Thr1636Ala)
c.4555A>G (p.Thr1519Ala)
c.4855A>G (p.Thr1619Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.120990568A>TCA16043648GLI2c.4603A>T (p.Thr1535Ser)
c.4654A>T (p.Thr1552Ser)
c.*3702A>T (n.*3702A>T)
c.*2544-22A>T (n.*2544-22A>T)
c.*3753A>T (n.*3753A>T)
c.*2493-22A>T (n.*2493-22A>T)
c.4636A>T (p.Thr1546Ser)
c.4513A>T (p.Thr1505Ser)
c.4459A>T (p.Thr1487Ser)
c.4279A>T (p.Thr1427Ser)
c.4228A>T (p.Thr1410Ser)
c.4906A>T (p.Thr1636Ser)
c.4555A>T (p.Thr1519Ser)
c.4855A>T (p.Thr1619Ser)
 ClinVar dbSNP
2g.120990569C>ACA348180185GLI2c.4604C>A (p.Thr1535Asn)
c.4655C>A (p.Thr1552Asn)
c.*3703C>A (n.*3703C>A)
c.*2544-21C>A (n.*2544-21C>A)
c.*3754C>A (n.*3754C>A)
c.*2493-21C>A (n.*2493-21C>A)
c.4637C>A (p.Thr1546Asn)
c.4514C>A (p.Thr1505Asn)
c.4460C>A (p.Thr1487Asn)
c.4280C>A (p.Thr1427Asn)
c.4229C>A (p.Thr1410Asn)
c.4907C>A (p.Thr1636Asn)
c.4556C>A (p.Thr1519Asn)
c.4856C>A (p.Thr1619Asn)
2g.120990569C>GCA348180186GLI2c.4604C>G (p.Thr1535Ser)
c.4655C>G (p.Thr1552Ser)
c.*3703C>G (n.*3703C>G)
c.*2544-21C>G (n.*2544-21C>G)
c.*3754C>G (n.*3754C>G)
c.*2493-21C>G (n.*2493-21C>G)
c.4637C>G (p.Thr1546Ser)
c.4514C>G (p.Thr1505Ser)
c.4460C>G (p.Thr1487Ser)
c.4280C>G (p.Thr1427Ser)
c.4229C>G (p.Thr1410Ser)
c.4907C>G (p.Thr1636Ser)
c.4556C>G (p.Thr1519Ser)
c.4856C>G (p.Thr1619Ser)
2g.120990569C>TCA348180187GLI2c.4604C>T (p.Thr1535Ile)
c.4655C>T (p.Thr1552Ile)
c.*3703C>T (n.*3703C>T)
c.*2544-21C>T (n.*2544-21C>T)
c.*3754C>T (n.*3754C>T)
c.*2493-21C>T (n.*2493-21C>T)
c.4637C>T (p.Thr1546Ile)
c.4514C>T (p.Thr1505Ile)
c.4460C>T (p.Thr1487Ile)
c.4280C>T (p.Thr1427Ile)
c.4229C>T (p.Thr1410Ile)
c.4907C>T (p.Thr1636Ile)
c.4556C>T (p.Thr1519Ile)
c.4856C>T (p.Thr1619Ile)
2g.120990570C>ACA428750763GLI2c.4605C>A (p.Thr1535=)
c.4656C>A (p.Thr1552=)
c.*3704C>A (n.*3704C>A)
c.*2544-20C>A (n.*2544-20C>A)
c.*3755C>A (n.*3755C>A)
c.*2493-20C>A (n.*2493-20C>A)
c.4638C>A (p.Thr1546=)
c.4515C>A (p.Thr1505=)
c.4461C>A (p.Thr1487=)
c.4281C>A (p.Thr1427=)
c.4230C>A (p.Thr1410=)
c.4908C>A (p.Thr1636=)
c.4557C>A (p.Thr1519=)
c.4857C>A (p.Thr1619=)
2g.120990570C=CA1283796182GLI2c.4605C= (p.Thr1535=)
c.4656C= (p.Thr1552=)
c.*3704C= (n.*3704C=)
c.*2544-20C= (n.*2544-20C=)
c.*3755C= (n.*3755C=)
c.*2493-20C= (n.*2493-20C=)
c.4638C= (p.Thr1546=)
c.4515C= (p.Thr1505=)
c.4461C= (p.Thr1487=)
c.4281C= (p.Thr1427=)
c.4230C= (p.Thr1410=)
c.4908C= (p.Thr1636=)
c.4557C= (p.Thr1519=)
c.4857C= (p.Thr1619=)
2g.120990570C>GCA428750762GLI2c.4605C>G (p.Thr1535=)
c.4656C>G (p.Thr1552=)
c.*3704C>G (n.*3704C>G)
c.*2544-20C>G (n.*2544-20C>G)
c.*3755C>G (n.*3755C>G)
c.*2493-20C>G (n.*2493-20C>G)
c.4638C>G (p.Thr1546=)
c.4515C>G (p.Thr1505=)
c.4461C>G (p.Thr1487=)
c.4281C>G (p.Thr1427=)
c.4230C>G (p.Thr1410=)
c.4908C>G (p.Thr1636=)
c.4557C>G (p.Thr1519=)
c.4857C>G (p.Thr1619=)
2g.120990570C>TCA54386588GLI2c.4605C>T (p.Thr1535=)
c.4656C>T (p.Thr1552=)
c.*3704C>T (n.*3704C>T)
c.*2544-20C>T (n.*2544-20C>T)
c.*3755C>T (n.*3755C>T)
c.*2493-20C>T (n.*2493-20C>T)
c.4638C>T (p.Thr1546=)
c.4515C>T (p.Thr1505=)
c.4461C>T (p.Thr1487=)
c.4281C>T (p.Thr1427=)
c.4230C>T (p.Thr1410=)
c.4908C>T (p.Thr1636=)
c.4557C>T (p.Thr1519=)
c.4857C>T (p.Thr1619=)
 dbSNP gnomAD v3 gnomAD v4
2g.120990571C>ACA348180188GLI2c.4606C>A (p.Leu1536Met)
c.4657C>A (p.Leu1553Met)
c.*3705C>A (n.*3705C>A)
c.*2544-19C>A (n.*2544-19C>A)
c.*3756C>A (n.*3756C>A)
c.*2493-19C>A (n.*2493-19C>A)
c.4639C>A (p.Leu1547Met)
c.4516C>A (p.Leu1506Met)
c.4462C>A (p.Leu1488Met)
c.4282C>A (p.Leu1428Met)
c.4231C>A (p.Leu1411Met)
c.4909C>A (p.Leu1637Met)
c.4558C>A (p.Leu1520Met)
c.4858C>A (p.Leu1620Met)
2g.120990571C=CA1283796183GLI2c.4606C= (p.Leu1536=)
c.4657C= (p.Leu1553=)
c.*3705C= (n.*3705C=)
c.*2544-19C= (n.*2544-19C=)
c.*3756C= (n.*3756C=)
c.*2493-19C= (n.*2493-19C=)
c.4639C= (p.Leu1547=)
c.4516C= (p.Leu1506=)
c.4462C= (p.Leu1488=)
c.4282C= (p.Leu1428=)
c.4231C= (p.Leu1411=)
c.4909C= (p.Leu1637=)
c.4558C= (p.Leu1520=)
c.4858C= (p.Leu1620=)
2g.120990571C>GCA348180189GLI2c.4606C>G (p.Leu1536Val)
c.4657C>G (p.Leu1553Val)
c.*3705C>G (n.*3705C>G)
c.*2544-19C>G (n.*2544-19C>G)
c.*3756C>G (n.*3756C>G)
c.*2493-19C>G (n.*2493-19C>G)
c.4639C>G (p.Leu1547Val)
c.4516C>G (p.Leu1506Val)
c.4462C>G (p.Leu1488Val)
c.4282C>G (p.Leu1428Val)
c.4231C>G (p.Leu1411Val)
c.4909C>G (p.Leu1637Val)
c.4558C>G (p.Leu1520Val)
c.4858C>G (p.Leu1620Val)
2g.120990571C>TCA54386593GLI2c.4606C>T (p.Leu1536=)
c.4657C>T (p.Leu1553=)
c.*3705C>T (n.*3705C>T)
c.*2544-19C>T (n.*2544-19C>T)
c.*3756C>T (n.*3756C>T)
c.*2493-19C>T (n.*2493-19C>T)
c.4639C>T (p.Leu1547=)
c.4516C>T (p.Leu1506=)
c.4462C>T (p.Leu1488=)
c.4282C>T (p.Leu1428=)
c.4231C>T (p.Leu1411=)
c.4909C>T (p.Leu1637=)
c.4558C>T (p.Leu1520=)
c.4858C>T (p.Leu1620=)
 dbSNP gnomAD v4
2g.120990572T>ACA348180190GLI2c.4607T>A (p.Leu1536Gln)
c.4658T>A (p.Leu1553Gln)
c.*3706T>A (n.*3706T>A)
c.*2544-18T>A (n.*2544-18T>A)
c.*3757T>A (n.*3757T>A)
c.*2493-18T>A (n.*2493-18T>A)
c.4640T>A (p.Leu1547Gln)
c.4517T>A (p.Leu1506Gln)
c.4463T>A (p.Leu1488Gln)
c.4283T>A (p.Leu1428Gln)
c.4232T>A (p.Leu1411Gln)
c.4910T>A (p.Leu1637Gln)
c.4559T>A (p.Leu1520Gln)
c.4859T>A (p.Leu1620Gln)
2g.120990572T>CCA348180191GLI2c.4607T>C (p.Leu1536Pro)
c.4658T>C (p.Leu1553Pro)
c.*3706T>C (n.*3706T>C)
c.*2544-18T>C (n.*2544-18T>C)
c.*3757T>C (n.*3757T>C)
c.*2493-18T>C (n.*2493-18T>C)
c.4640T>C (p.Leu1547Pro)
c.4517T>C (p.Leu1506Pro)
c.4463T>C (p.Leu1488Pro)
c.4283T>C (p.Leu1428Pro)
c.4232T>C (p.Leu1411Pro)
c.4910T>C (p.Leu1637Pro)
c.4559T>C (p.Leu1520Pro)
c.4859T>C (p.Leu1620Pro)
2g.120990572T>GCA348180192GLI2c.4607T>G (p.Leu1536Arg)
c.4658T>G (p.Leu1553Arg)
c.*3706T>G (n.*3706T>G)
c.*2544-18T>G (n.*2544-18T>G)
c.*3757T>G (n.*3757T>G)
c.*2493-18T>G (n.*2493-18T>G)
c.4640T>G (p.Leu1547Arg)
c.4517T>G (p.Leu1506Arg)
c.4463T>G (p.Leu1488Arg)
c.4283T>G (p.Leu1428Arg)
c.4232T>G (p.Leu1411Arg)
c.4910T>G (p.Leu1637Arg)
c.4559T>G (p.Leu1520Arg)
c.4859T>G (p.Leu1620Arg)

Number of alleles fetched