UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.41964348_41964757delinsGAATTTGCTTTCTTCCGCTAGGGAGGTCAGCAAAGAACTCATGTCCCCGATAGCCATGTTGGTGGTGCTCATGGACAGCGCTGGGAATGGGAGGGACGCCCGAGGCGTGGTGAGGCGGGAGGAGCTATGGGAAAGGTTCTGAATGATACTTGGGCTCAGGGCCCCCGACATCAGGCTGGAGTGGTCCCCATCGTCTATGATGGCATCGAAGTCAATCTGTACCCCTTCCAGGTCATGGCTGTCGAGGCTGTCCACTGTGCTTGTCACCTGATTAGCACCTGGGGAAAGTAACTCAGAGTTTTTGGCGCTGGTCCCCTGTAGCAGGCAGCTGGCGTCTGAAATAGAGAATGAACCAGCTTTCGTGTCTTGCTGACTGAAGCCCACGGTTTGGTCATAGAACTGACCAGAGT | CA1702660224 | GLI3 | c.4316_4725delinsACTCTGGTCAGTTCTATGACCAAACCGTGGGCTTCAGTCAGCAAGACACGAAAGCTGGTTCATTCTCTATTTCAGACGCCAGCTGCCTGCTACAGGGGACCAGCGCCAAAAACTCTGAGTTACTTTCCCCAGGTGCTAATCAGGTGACAAGCACAGTGGACAGCCTCGACAGCCATGACCTGGAAGGGGTACAGATTGACTTCGATGCCATCATAGACGATGGGGACCACTCCAGCCTGATGTCGGGGGCCCTGAGCCCAAGTATCATTCAGAACCTTTCCCATAGCTCCTCCCGCCTCACCACGCCTCGGGCGTCCCTCCCATTCCCAGCGCTGTCCATGAGCACCACCAACATGGCTATCGGGGACATGAGTTCTTTGCTGACCTCCCTAGCGGAAGAAAGCAAATTC (p.Tyr1439=) c.4142_4551delinsACTCTGGTCAGTTCTATGACCAAACCGTGGGCTTCAGTCAGCAAGACACGAAAGCTGGTTCATTCTCTATTTCAGACGCCAGCTGCCTGCTACAGGGGACCAGCGCCAAAAACTCTGAGTTACTTTCCCCAGGTGCTAATCAGGTGACAAGCACAGTGGACAGCCTCGACAGCCATGACCTGGAAGGGGTACAGATTGACTTCGATGCCATCATAGACGATGGGGACCACTCCAGCCTGATGTCGGGGGCCCTGAGCCCAAGTATCATTCAGAACCTTTCCCATAGCTCCTCCCGCCTCACCACGCCTCGGGCGTCCCTCCCATTCCCAGCGCTGTCCATGAGCACCACCAACATGGCTATCGGGGACATGAGTTCTTTGCTGACCTCCCTAGCGGAAGAAAGCAAATTC (p.Tyr1381=) n.4293_4702delinsACTCTGGTCAGTTCTATGACCAAACCGTGGGCTTCAGTCAGCAAGACACGAAAGCTGGTTCATTCTCTATTTCAGACGCCAGCTGCCTGCTACAGGGGACCAGCGCCAAAAACTCTGAGTTACTTTCCCCAGGTGCTAATCAGGTGACAAGCACAGTGGACAGCCTCGACAGCCATGACCTGGAAGGGGTACAGATTGACTTCGATGCCATCATAGACGATGGGGACCACTCCAGCCTGATGTCGGGGGCCCTGAGCCCAAGTATCATTCAGAACCTTTCCCATAGCTCCTCCCGCCTCACCACGCCTCGGGCGTCCCTCCCATTCCCAGCGCTGTCCATGAGCACCACCAACATGGCTATCGGGGACATGAGTTCTTTGCTGACCTCCCTAGCGGAAGAAAGCAAATTC c.4139_4548delinsACTCTGGTCAGTTCTATGACCAAACCGTGGGCTTCAGTCAGCAAGACACGAAAGCTGGTTCATTCTCTATTTCAGACGCCAGCTGCCTGCTACAGGGGACCAGCGCCAAAAACTCTGAGTTACTTTCCCCAGGTGCTAATCAGGTGACAAGCACAGTGGACAGCCTCGACAGCCATGACCTGGAAGGGGTACAGATTGACTTCGATGCCATCATAGACGATGGGGACCACTCCAGCCTGATGTCGGGGGCCCTGAGCCCAAGTATCATTCAGAACCTTTCCCATAGCTCCTCCCGCCTCACCACGCCTCGGGCGTCCCTCCCATTCCCAGCGCTGTCCATGAGCACCACCAACATGGCTATCGGGGACATGAGTTCTTTGCTGACCTCCCTAGCGGAAGAAAGCAAATTC (p.Tyr1380=) c.4313_4722delinsACTCTGGTCAGTTCTATGACCAAACCGTGGGCTTCAGTCAGCAAGACACGAAAGCTGGTTCATTCTCTATTTCAGACGCCAGCTGCCTGCTACAGGGGACCAGCGCCAAAAACTCTGAGTTACTTTCCCCAGGTGCTAATCAGGTGACAAGCACAGTGGACAGCCTCGACAGCCATGACCTGGAAGGGGTACAGATTGACTTCGATGCCATCATAGACGATGGGGACCACTCCAGCCTGATGTCGGGGGCCCTGAGCCCAAGTATCATTCAGAACCTTTCCCATAGCTCCTCCCGCCTCACCACGCCTCGGGCGTCCCTCCCATTCCCAGCGCTGTCCATGAGCACCACCAACATGGCTATCGGGGACATGAGTTCTTTGCTGACCTCCCTAGCGGAAGAAAGCAAATTC (p.Tyr1438=) | |
| 7 | g.41964353_41964761del | CA1139660043 | GLI3 | c.4316_4724del (p.Tyr1439SerfsTer9) c.4142_4550del (p.Tyr1381SerfsTer9) n.4293_4701del c.4139_4547del (p.Tyr1380SerfsTer9) c.4313_4721del (p.Tyr1438SerfsTer?) | ClinVar dbSNP |
| 7 | g.41964733G>A | CA367315233 | GLI3 | c.4340C>T (p.Thr1447Ile) c.4166C>T (p.Thr1389Ile) n.4317C>T c.4163C>T (p.Thr1388Ile) c.4337C>T (p.Thr1446Ile) | |
| 7 | g.41964733G>C | CA367315234 | GLI3 | c.4340C>G (p.Thr1447Ser) c.4166C>G (p.Thr1389Ser) n.4317C>G c.4163C>G (p.Thr1388Ser) c.4337C>G (p.Thr1446Ser) | |
| 7 | g.41964733G>T | CA367315235 | GLI3 | c.4340C>A (p.Thr1447Asn) c.4166C>A (p.Thr1389Asn) n.4317C>A c.4163C>A (p.Thr1388Asn) c.4337C>A (p.Thr1446Asn) | |
| 7 | g.41964734T>A | CA367315236 | GLI3 | c.4339A>T (p.Thr1447Ser) c.4165A>T (p.Thr1389Ser) n.4316A>T c.4162A>T (p.Thr1388Ser) c.4336A>T (p.Thr1446Ser) | |
| 7 | g.41964734T>C | CA367315237 | GLI3 | c.4339A>G (p.Thr1447Ala) c.4165A>G (p.Thr1389Ala) n.4316A>G c.4162A>G (p.Thr1388Ala) c.4336A>G (p.Thr1446Ala) | |
| 7 | g.41964734T>G | CA367315238 | GLI3 | c.4339A>C (p.Thr1447Pro) c.4165A>C (p.Thr1389Pro) n.4316A>C c.4162A>C (p.Thr1388Pro) c.4336A>C (p.Thr1446Pro) | |
| 7 | g.41964735T>A | CA367315240 | GLI3 | c.4338A>T (p.Gln1446His) c.4164A>T (p.Gln1388His) n.4315A>T c.4161A>T (p.Gln1387His) c.4335A>T (p.Gln1445His) | |
| 7 | g.41964735T>C | CA454657446 | GLI3 | c.4338A>G (p.Gln1446=) c.4164A>G (p.Gln1388=) n.4315A>G c.4161A>G (p.Gln1387=) c.4335A>G (p.Gln1445=) | |
| 7 | g.41964735T>G | CA367315239 | GLI3 | c.4338A>C (p.Gln1446His) c.4164A>C (p.Gln1388His) n.4315A>C c.4161A>C (p.Gln1387His) c.4335A>C (p.Gln1445His) | |
| 7 | g.41964736T>A | CA367315241 | GLI3 | c.4337A>T (p.Gln1446Leu) c.4163A>T (p.Gln1388Leu) n.4314A>T c.4160A>T (p.Gln1387Leu) c.4334A>T (p.Gln1445Leu) | |
| 7 | g.41964736T>C | CA367315242 | GLI3 | c.4337A>G (p.Gln1446Arg) c.4163A>G (p.Gln1388Arg) n.4314A>G c.4160A>G (p.Gln1387Arg) c.4334A>G (p.Gln1445Arg) | |
| 7 | g.41964736T>G | CA367315243 | GLI3 | c.4337A>C (p.Gln1446Pro) c.4163A>C (p.Gln1388Pro) n.4314A>C c.4160A>C (p.Gln1387Pro) c.4334A>C (p.Gln1445Pro) | |
| 7 | g.41964737G>A | CA367315244 | GLI3 | c.4336C>T (p.Gln1446Ter) c.4162C>T (p.Gln1388Ter) n.4313C>T c.4159C>T (p.Gln1387Ter) c.4333C>T (p.Gln1445Ter) | |
| 7 | g.41964737G>C | CA367315245 | GLI3 | c.4336C>G (p.Gln1446Glu) c.4162C>G (p.Gln1388Glu) n.4313C>G c.4159C>G (p.Gln1387Glu) c.4333C>G (p.Gln1445Glu) | gnomAD v4 |
| 7 | g.41964737G>T | CA367315246 | GLI3 | c.4336C>A (p.Gln1446Lys) c.4162C>A (p.Gln1388Lys) n.4313C>A c.4159C>A (p.Gln1387Lys) c.4333C>A (p.Gln1445Lys) | |
| 7 | g.41964738G>A | CA454657447 | GLI3 | c.4335C>T (p.Asp1445=) c.4161C>T (p.Asp1387=) n.4312C>T c.4158C>T (p.Asp1386=) c.4332C>T (p.Asp1444=) | dbSNP |
| 7 | g.41964738G>C | CA367315247 | GLI3 | c.4335C>G (p.Asp1445Glu) c.4161C>G (p.Asp1387Glu) n.4312C>G c.4158C>G (p.Asp1386Glu) c.4332C>G (p.Asp1444Glu) | |
| 7 | g.41964738G= | CA1702660408 | GLI3 | c.4335C= (p.Asp1445=) c.4161C= (p.Asp1387=) n.4312C= c.4158C= (p.Asp1386=) c.4332C= (p.Asp1444=) | |
| 7 | g.41964738G>T | CA367315248 | GLI3 | c.4335C>A (p.Asp1445Glu) c.4161C>A (p.Asp1387Glu) n.4312C>A c.4158C>A (p.Asp1386Glu) c.4332C>A (p.Asp1444Glu) | |
| 7 | g.41964739T>A | CA367315249 | GLI3 | c.4334A>T (p.Asp1445Val) c.4160A>T (p.Asp1387Val) n.4311A>T c.4157A>T (p.Asp1386Val) c.4331A>T (p.Asp1444Val) | |
| 7 | g.41964739T>C | CA367315250 | GLI3 | c.4334A>G (p.Asp1445Gly) c.4160A>G (p.Asp1387Gly) n.4311A>G c.4157A>G (p.Asp1386Gly) c.4331A>G (p.Asp1444Gly) | |
| 7 | g.41964739T>G | CA367315251 | GLI3 | c.4334A>C (p.Asp1445Ala) c.4160A>C (p.Asp1387Ala) n.4311A>C c.4157A>C (p.Asp1386Ala) c.4331A>C (p.Asp1444Ala) | |
| 7 | g.41964740C>A | CA367315254 | GLI3 | c.4333G>T (p.Asp1445Tyr) c.4159G>T (p.Asp1387Tyr) n.4310G>T c.4156G>T (p.Asp1386Tyr) c.4330G>T (p.Asp1444Tyr) | gnomAD v4 |
| 7 | g.41964740C= | CA1702660409 | GLI3 | c.4333G= (p.Asp1445=) c.4159G= (p.Asp1387=) n.4310G= c.4156G= (p.Asp1386=) c.4330G= (p.Asp1444=) | |
| 7 | g.41964740C>G | CA367315253 | GLI3 | c.4333G>C (p.Asp1445His) c.4159G>C (p.Asp1387His) n.4310G>C c.4156G>C (p.Asp1386His) c.4330G>C (p.Asp1444His) | |
| 7 | g.41964740C>T | CA367315252 | GLI3 | c.4333G>A (p.Asp1445Asn) c.4159G>A (p.Asp1387Asn) n.4310G>A c.4156G>A (p.Asp1386Asn) c.4330G>A (p.Asp1444Asn) | dbSNP gnomAD v4 |
| 7 | g.41964741A= | CA1702660410 | GLI3 | c.4332T= (p.Tyr1444=) c.4158T= (p.Tyr1386=) n.4309T= c.4155T= (p.Tyr1385=) c.4329T= (p.Tyr1443=) | |
| 7 | g.41964741A>C | CA367315255 | GLI3 | c.4332T>G (p.Tyr1444Ter) c.4158T>G (p.Tyr1386Ter) n.4309T>G c.4155T>G (p.Tyr1385Ter) c.4329T>G (p.Tyr1443Ter) | |
| 7 | g.41964741A>G | CA454657448 | GLI3 | c.4332T>C (p.Tyr1444=) c.4158T>C (p.Tyr1386=) n.4309T>C c.4155T>C (p.Tyr1385=) c.4329T>C (p.Tyr1443=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41964741A>T | CA367315256 | GLI3 | c.4332T>A (p.Tyr1444Ter) c.4158T>A (p.Tyr1386Ter) n.4309T>A c.4155T>A (p.Tyr1385Ter) c.4329T>A (p.Tyr1443Ter) | ClinVar |
| 7 | g.41964742T>A | CA367315257 | GLI3 | c.4331A>T (p.Tyr1444Phe) c.4157A>T (p.Tyr1386Phe) n.4308A>T c.4154A>T (p.Tyr1385Phe) c.4328A>T (p.Tyr1443Phe) | |
| 7 | g.41964742T>C | CA4230150 | GLI3 | c.4331A>G (p.Tyr1444Cys) c.4157A>G (p.Tyr1386Cys) n.4308A>G c.4154A>G (p.Tyr1385Cys) c.4328A>G (p.Tyr1443Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41964742T>G | CA367315258 | GLI3 | c.4331A>C (p.Tyr1444Ser) c.4157A>C (p.Tyr1386Ser) n.4308A>C c.4154A>C (p.Tyr1385Ser) c.4328A>C (p.Tyr1443Ser) | |
| 7 | g.41964742T= | CA1702660411 | GLI3 | c.4331A= (p.Tyr1444=) c.4157A= (p.Tyr1386=) n.4308A= c.4154A= (p.Tyr1385=) c.4328A= (p.Tyr1443=) | |
| 7 | g.41964743A>C | CA367315259 | GLI3 | c.4330T>G (p.Tyr1444Asp) c.4156T>G (p.Tyr1386Asp) n.4307T>G c.4153T>G (p.Tyr1385Asp) c.4327T>G (p.Tyr1443Asp) | |
| 7 | g.41964743A>G | CA367315260 | GLI3 | c.4330T>C (p.Tyr1444His) c.4156T>C (p.Tyr1386His) n.4307T>C c.4153T>C (p.Tyr1385His) c.4327T>C (p.Tyr1443His) | |
| 7 | g.41964743A>T | CA367315261 | GLI3 | c.4330T>A (p.Tyr1444Asn) c.4156T>A (p.Tyr1386Asn) n.4307T>A c.4153T>A (p.Tyr1385Asn) c.4327T>A (p.Tyr1443Asn) | |
| 7 | g.41964744G>A | CA454657449 | GLI3 | c.4329C>T (p.Phe1443=) c.4155C>T (p.Phe1385=) n.4306C>T c.4152C>T (p.Phe1384=) c.4326C>T (p.Phe1442=) | |
| 7 | g.41964744G>C | CA367315262 | GLI3 | c.4329C>G (p.Phe1443Leu) c.4155C>G (p.Phe1385Leu) n.4306C>G c.4152C>G (p.Phe1384Leu) c.4326C>G (p.Phe1442Leu) | |
| 7 | g.41964744G>T | CA367315263 | GLI3 | c.4329C>A (p.Phe1443Leu) c.4155C>A (p.Phe1385Leu) n.4306C>A c.4152C>A (p.Phe1384Leu) c.4326C>A (p.Phe1442Leu) | gnomAD v4 COSMIC |
| 7 | g.41964745A>C | CA367315264 | GLI3 | c.4328T>G (p.Phe1443Cys) c.4154T>G (p.Phe1385Cys) n.4305T>G c.4151T>G (p.Phe1384Cys) c.4325T>G (p.Phe1442Cys) | |
| 7 | g.41964745A>G | CA367315265 | GLI3 | c.4328T>C (p.Phe1443Ser) c.4154T>C (p.Phe1385Ser) n.4305T>C c.4151T>C (p.Phe1384Ser) c.4325T>C (p.Phe1442Ser) | |
| 7 | g.41964745A>T | CA367315266 | GLI3 | c.4328T>A (p.Phe1443Tyr) c.4154T>A (p.Phe1385Tyr) n.4305T>A c.4151T>A (p.Phe1384Tyr) c.4325T>A (p.Phe1442Tyr) | |
| 7 | g.41964746A>C | CA367315267 | GLI3 | c.4327T>G (p.Phe1443Val) c.4153T>G (p.Phe1385Val) n.4304T>G c.4150T>G (p.Phe1384Val) c.4324T>G (p.Phe1442Val) | |
| 7 | g.41964746A>G | CA367315269 | GLI3 | c.4327T>C (p.Phe1443Leu) c.4153T>C (p.Phe1385Leu) n.4304T>C c.4150T>C (p.Phe1384Leu) c.4324T>C (p.Phe1442Leu) | gnomAD v4 |
| 7 | g.41964746A>T | CA367315268 | GLI3 | c.4327T>A (p.Phe1443Ile) c.4153T>A (p.Phe1385Ile) n.4304T>A c.4150T>A (p.Phe1384Ile) c.4324T>A (p.Phe1442Ile) | |
| 7 | g.41964747C>A | CA367315270 | GLI3 | c.4326G>T (p.Gln1442His) c.4152G>T (p.Gln1384His) n.4303G>T c.4149G>T (p.Gln1383His) c.4323G>T (p.Gln1441His) | |
| 7 | g.41964747C= | CA1702660412 | GLI3 | c.4326G= (p.Gln1442=) c.4152G= (p.Gln1384=) n.4303G= c.4149G= (p.Gln1383=) c.4323G= (p.Gln1441=) | |
| 7 | g.41964747C>G | CA367315271 | GLI3 | c.4326G>C (p.Gln1442His) c.4152G>C (p.Gln1384His) n.4303G>C c.4149G>C (p.Gln1383His) c.4323G>C (p.Gln1441His) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41964747C>T | CA454657450 | GLI3 | c.4326G>A (p.Gln1442=) c.4152G>A (p.Gln1384=) n.4303G>A c.4149G>A (p.Gln1383=) c.4323G>A (p.Gln1441=) | |
| 7 | g.41964748_41964752del | CA2740097343 | GLI3 | c.4322_4326del (p.Gly1441ValfsTer3) c.4148_4152del (p.Gly1383ValfsTer3) n.4299_4303del c.4145_4149del (p.Gly1382ValfsTer3) c.4319_4323del (p.Gly1440ValfsTer3) | ClinVar |
| 7 | g.41964748T>A | CA367315272 | GLI3 | c.4325A>T (p.Gln1442Leu) c.4151A>T (p.Gln1384Leu) n.4302A>T c.4148A>T (p.Gln1383Leu) c.4322A>T (p.Gln1441Leu) | |
| 7 | g.41964748T>C | CA367315273 | GLI3 | c.4325A>G (p.Gln1442Arg) c.4151A>G (p.Gln1384Arg) n.4302A>G c.4148A>G (p.Gln1383Arg) c.4322A>G (p.Gln1441Arg) | |
| 7 | g.41964748T>G | CA367315274 | GLI3 | c.4325A>C (p.Gln1442Pro) c.4151A>C (p.Gln1384Pro) n.4302A>C c.4148A>C (p.Gln1383Pro) c.4322A>C (p.Gln1441Pro) | |
| 7 | g.41964749G>A | CA367315275 | GLI3 | c.4324C>T (p.Gln1442Ter) c.4150C>T (p.Gln1384Ter) n.4301C>T c.4147C>T (p.Gln1383Ter) c.4321C>T (p.Gln1441Ter) | |
| 7 | g.41964749G>C | CA367315276 | GLI3 | c.4324C>G (p.Gln1442Glu) c.4150C>G (p.Gln1384Glu) n.4301C>G c.4147C>G (p.Gln1383Glu) c.4321C>G (p.Gln1441Glu) | |
| 7 | g.41964749G>T | CA367315277 | GLI3 | c.4324C>A (p.Gln1442Lys) c.4150C>A (p.Gln1384Lys) n.4301C>A c.4147C>A (p.Gln1383Lys) c.4321C>A (p.Gln1441Lys) | |
| 7 | g.41964750A>C | CA454657452 | GLI3 | c.4323T>G (p.Gly1441=) c.4149T>G (p.Gly1383=) n.4300T>G c.4146T>G (p.Gly1382=) c.4320T>G (p.Gly1440=) | |
| 7 | g.41964750A>G | CA454657453 | GLI3 | c.4323T>C (p.Gly1441=) c.4149T>C (p.Gly1383=) n.4300T>C c.4146T>C (p.Gly1382=) c.4320T>C (p.Gly1440=) | gnomAD v4 |
| 7 | g.41964750A>T | CA454657454 | GLI3 | c.4323T>A (p.Gly1441=) c.4149T>A (p.Gly1383=) n.4300T>A c.4146T>A (p.Gly1382=) c.4320T>A (p.Gly1440=) | |
| 7 | g.41964751C>A | CA367315278 | GLI3 | c.4322G>T (p.Gly1441Val) c.4148G>T (p.Gly1383Val) n.4299G>T c.4145G>T (p.Gly1382Val) c.4319G>T (p.Gly1440Val) | |
| 7 | g.41964751C= | CA1702660413 | GLI3 | c.4322G= (p.Gly1441=) c.4148G= (p.Gly1383=) n.4299G= c.4145G= (p.Gly1382=) c.4319G= (p.Gly1440=) | |
| 7 | g.41964751C>G | CA367315279 | GLI3 | c.4322G>C (p.Gly1441Ala) c.4148G>C (p.Gly1383Ala) n.4299G>C c.4145G>C (p.Gly1382Ala) c.4319G>C (p.Gly1440Ala) | |
| 7 | g.41964751C>T | CA4230151 | GLI3 | c.4322G>A (p.Gly1441Asp) c.4148G>A (p.Gly1383Asp) n.4299G>A c.4145G>A (p.Gly1382Asp) c.4319G>A (p.Gly1440Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41964752C>A | CA367315281 | GLI3 | c.4321G>T (p.Gly1441Cys) c.4147G>T (p.Gly1383Cys) n.4298G>T c.4144G>T (p.Gly1382Cys) c.4318G>T (p.Gly1440Cys) | |
| 7 | g.41964752C= | CA1702660414 | GLI3 | c.4321G= (p.Gly1441=) c.4147G= (p.Gly1383=) n.4298G= c.4144G= (p.Gly1382=) c.4318G= (p.Gly1440=) | |
| 7 | g.41964752C>G | CA367315282 | GLI3 | c.4321G>C (p.Gly1441Arg) c.4147G>C (p.Gly1383Arg) n.4298G>C c.4144G>C (p.Gly1382Arg) c.4318G>C (p.Gly1440Arg) | |
| 7 | g.41964752C>T | CA367315280 | GLI3 | c.4321G>A (p.Gly1441Ser) c.4147G>A (p.Gly1383Ser) n.4298G>A c.4144G>A (p.Gly1382Ser) c.4318G>A (p.Gly1440Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41964753A>C | CA454657457 | GLI3 | c.4320T>G (p.Ser1440=) c.4146T>G (p.Ser1382=) n.4297T>G c.4143T>G (p.Ser1381=) c.4317T>G (p.Ser1439=) | |
| 7 | g.41964753A>G | CA454657455 | GLI3 | c.4320T>C (p.Ser1440=) c.4146T>C (p.Ser1382=) n.4297T>C c.4143T>C (p.Ser1381=) c.4317T>C (p.Ser1439=) | |
| 7 | g.41964753A>T | CA454657456 | GLI3 | c.4320T>A (p.Ser1440=) c.4146T>A (p.Ser1382=) n.4297T>A c.4143T>A (p.Ser1381=) c.4317T>A (p.Ser1439=) | gnomAD v4 |
| 7 | g.41964754G>A | CA367315285 | GLI3 | c.4319C>T (p.Ser1440Phe) c.4145C>T (p.Ser1382Phe) n.4296C>T c.4142C>T (p.Ser1381Phe) c.4316C>T (p.Ser1439Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41964754G>C | CA367315283 | GLI3 | c.4319C>G (p.Ser1440Cys) c.4145C>G (p.Ser1382Cys) n.4296C>G c.4142C>G (p.Ser1381Cys) c.4316C>G (p.Ser1439Cys) | gnomAD v4 |
| 7 | g.41964754G= | CA1702660415 | GLI3 | c.4319C= (p.Ser1440=) c.4145C= (p.Ser1382=) n.4296C= c.4142C= (p.Ser1381=) c.4316C= (p.Ser1439=) | |
| 7 | g.41964754G>T | CA367315284 | GLI3 | c.4319C>A (p.Ser1440Tyr) c.4145C>A (p.Ser1382Tyr) n.4296C>A c.4142C>A (p.Ser1381Tyr) c.4316C>A (p.Ser1439Tyr) | COSMIC |
| 7 | g.41964755del | CA2578873899 | GLI3 | c.4318del (p.Ser1440LeufsTer?) c.4144del (p.Ser1382LeufsTer?) n.4295del c.4141del (p.Ser1381LeufsTer?) c.4315del (p.Ser1439LeufsTer?) | |
| 7 | g.41964755A= | CA1702660416 | GLI3 | c.4318T= (p.Ser1440=) c.4144T= (p.Ser1382=) n.4295T= c.4141T= (p.Ser1381=) c.4315T= (p.Ser1439=) | |
| 7 | g.41964755A>C | CA156902252 | GLI3 | c.4318T>G (p.Ser1440Ala) c.4144T>G (p.Ser1382Ala) n.4295T>G c.4141T>G (p.Ser1381Ala) c.4315T>G (p.Ser1439Ala) | dbSNP |
| 7 | g.41964755A>G | CA367315286 | GLI3 | c.4318T>C (p.Ser1440Pro) c.4144T>C (p.Ser1382Pro) n.4295T>C c.4141T>C (p.Ser1381Pro) c.4315T>C (p.Ser1439Pro) | |
| 7 | g.41964755A>T | CA367315287 | GLI3 | c.4318T>A (p.Ser1440Thr) c.4144T>A (p.Ser1382Thr) n.4295T>A c.4141T>A (p.Ser1381Thr) c.4315T>A (p.Ser1439Thr) | |
| 7 | g.41964756G>A | CA454657458 | GLI3 | c.4317C>T (p.Tyr1439=) c.4143C>T (p.Tyr1381=) n.4294C>T c.4140C>T (p.Tyr1380=) c.4314C>T (p.Tyr1438=) | gnomAD v4 |
| 7 | g.41964756G>C | CA367315288 | GLI3 | c.4317C>G (p.Tyr1439Ter) c.4143C>G (p.Tyr1381Ter) n.4294C>G c.4140C>G (p.Tyr1380Ter) c.4314C>G (p.Tyr1438Ter) | ClinVar |
| 7 | g.41964756G= | CA1702660417 | GLI3 | c.4317C= (p.Tyr1439=) c.4143C= (p.Tyr1381=) n.4294C= c.4140C= (p.Tyr1380=) c.4314C= (p.Tyr1438=) | |
| 7 | g.41964756G>T | CA367315289 | GLI3 | c.4317C>A (p.Tyr1439Ter) c.4143C>A (p.Tyr1381Ter) n.4294C>A c.4140C>A (p.Tyr1380Ter) c.4314C>A (p.Tyr1438Ter) | ClinVar dbSNP |
| 7 | g.41964757T>A | CA367315290 | GLI3 | c.4316A>T (p.Tyr1439Phe) c.4142A>T (p.Tyr1381Phe) n.4293A>T c.4139A>T (p.Tyr1380Phe) c.4313A>T (p.Tyr1438Phe) | |
| 7 | g.41964757T>C | CA4230152 | GLI3 | c.4316A>G (p.Tyr1439Cys) c.4142A>G (p.Tyr1381Cys) n.4293A>G c.4139A>G (p.Tyr1380Cys) c.4313A>G (p.Tyr1438Cys) | dbSNP ExAC gnomAD v2 |
| 7 | g.41964757T>G | CA367315291 | GLI3 | c.4316A>C (p.Tyr1439Ser) c.4142A>C (p.Tyr1381Ser) n.4293A>C c.4139A>C (p.Tyr1380Ser) c.4313A>C (p.Tyr1438Ser) | |
| 7 | g.41964757T= | CA1702660418 | GLI3 | c.4316A= (p.Tyr1439=) c.4142A= (p.Tyr1381=) n.4293A= c.4139A= (p.Tyr1380=) c.4313A= (p.Tyr1438=) | |
| 7 | g.41964758A>C | CA367315292 | GLI3 | c.4315T>G (p.Tyr1439Asp) c.4141T>G (p.Tyr1381Asp) n.4292T>G c.4138T>G (p.Tyr1380Asp) c.4312T>G (p.Tyr1438Asp) | |
| 7 | g.41964758A>G | CA367315293 | GLI3 | c.4315T>C (p.Tyr1439His) c.4141T>C (p.Tyr1381His) n.4292T>C c.4138T>C (p.Tyr1380His) c.4312T>C (p.Tyr1438His) | |
| 7 | g.41964758A>T | CA367315294 | GLI3 | c.4315T>A (p.Tyr1439Asn) c.4141T>A (p.Tyr1381Asn) n.4292T>A c.4138T>A (p.Tyr1380Asn) c.4312T>A (p.Tyr1438Asn) | |
| 7 | g.41964759del | CA2740097344 | GLI3 | c.4315del (p.Tyr1439ThrfsTer?) c.4141del (p.Tyr1381ThrfsTer?) n.4292del c.4138del (p.Tyr1380ThrfsTer?) c.4312del (p.Tyr1438ThrfsTer?) | ClinVar |
| 7 | g.41964759A>C | CA367315296 | GLI3 | c.4314T>G (p.Asn1438Lys) c.4140T>G (p.Asn1380Lys) n.4291T>G c.4137T>G (p.Asn1379Lys) c.4311T>G (p.Asn1437Lys) | |
| 7 | g.41964759A>G | CA454657459 | GLI3 | c.4314T>C (p.Asn1438=) c.4140T>C (p.Asn1380=) n.4291T>C c.4137T>C (p.Asn1379=) c.4311T>C (p.Asn1437=) | |
| 7 | g.41964759A>T | CA367315295 | GLI3 | c.4314T>A (p.Asn1438Lys) c.4140T>A (p.Asn1380Lys) n.4291T>A c.4137T>A (p.Asn1379Lys) c.4311T>A (p.Asn1437Lys) | |
| 7 | g.41964760T>A | CA367315297 | GLI3 | c.4313A>T (p.Asn1438Ile) c.4139A>T (p.Asn1380Ile) n.4290A>T c.4136A>T (p.Asn1379Ile) c.4310A>T (p.Asn1437Ile) | |
| 7 | g.41964760T>C | CA367315298 | GLI3 | c.4313A>G (p.Asn1438Ser) c.4139A>G (p.Asn1380Ser) n.4290A>G c.4136A>G (p.Asn1379Ser) c.4310A>G (p.Asn1437Ser) | |
| 7 | g.41964760T>G | CA367315299 | GLI3 | c.4313A>C (p.Asn1438Thr) c.4139A>C (p.Asn1380Thr) n.4290A>C c.4136A>C (p.Asn1379Thr) c.4310A>C (p.Asn1437Thr) | COSMIC |
| 7 | g.41964761T>A | CA367315300 | GLI3 | c.4312A>T (p.Asn1438Tyr) c.4138A>T (p.Asn1380Tyr) n.4289A>T c.4135A>T (p.Asn1379Tyr) c.4309A>T (p.Asn1437Tyr) | COSMIC |
| 7 | g.41964761T>C | CA367315301 | GLI3 | c.4312A>G (p.Asn1438Asp) c.4138A>G (p.Asn1380Asp) n.4289A>G c.4135A>G (p.Asn1379Asp) c.4309A>G (p.Asn1437Asp) | |
| 7 | g.41964761T>G | CA367315302 | GLI3 | c.4312A>C (p.Asn1438His) c.4138A>C (p.Asn1380His) n.4289A>C c.4135A>C (p.Asn1379His) c.4309A>C (p.Asn1437His) | dbSNP gnomAD v4 |
| 7 | g.41964761T= | CA1702660419 | GLI3 | c.4312A= (p.Asn1438=) c.4138A= (p.Asn1380=) n.4289A= c.4135A= (p.Asn1379=) c.4309A= (p.Asn1437=) | |
| 7 | g.41964762C>A | CA367315303 | GLI3 | c.4311G>T (p.Gln1437His) c.4137G>T (p.Gln1379His) n.4288G>T c.4134G>T (p.Gln1378His) c.4308G>T (p.Gln1436His) | |
| 7 | g.41964762C= | CA1702660420 | GLI3 | c.4311G= (p.Gln1437=) c.4137G= (p.Gln1379=) n.4288G= c.4134G= (p.Gln1378=) c.4308G= (p.Gln1436=) | |
| 7 | g.41964762C>G | CA367315304 | GLI3 | c.4311G>C (p.Gln1437His) c.4137G>C (p.Gln1379His) n.4288G>C c.4134G>C (p.Gln1378His) c.4308G>C (p.Gln1436His) | |
| 7 | g.41964762C>T | CA454657460 | GLI3 | c.4311G>A (p.Gln1437=) c.4137G>A (p.Gln1379=) n.4288G>A c.4134G>A (p.Gln1378=) c.4308G>A (p.Gln1436=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41964763T>A | CA367315305 | GLI3 | c.4310A>T (p.Gln1437Leu) c.4136A>T (p.Gln1379Leu) n.4287A>T c.4133A>T (p.Gln1378Leu) c.4307A>T (p.Gln1436Leu) | |
| 7 | g.41964763T>C | CA367315306 | GLI3 | c.4310A>G (p.Gln1437Arg) c.4136A>G (p.Gln1379Arg) n.4287A>G c.4133A>G (p.Gln1378Arg) c.4307A>G (p.Gln1436Arg) | gnomAD v4 |
| 7 | g.41964763T>G | CA367315307 | GLI3 | c.4310A>C (p.Gln1437Pro) c.4136A>C (p.Gln1379Pro) n.4287A>C c.4133A>C (p.Gln1378Pro) c.4307A>C (p.Gln1436Pro) | |
| 7 | g.41964764G>A | CA367315308 | GLI3 | c.4309C>T (p.Gln1437Ter) c.4135C>T (p.Gln1379Ter) n.4286C>T c.4132C>T (p.Gln1378Ter) c.4306C>T (p.Gln1436Ter) | COSMIC |
| 7 | g.41964764G>C | CA367315309 | GLI3 | c.4309C>G (p.Gln1437Glu) c.4135C>G (p.Gln1379Glu) n.4286C>G c.4132C>G (p.Gln1378Glu) c.4306C>G (p.Gln1436Glu) | |
| 7 | g.41964764G>T | CA367315310 | GLI3 | c.4309C>A (p.Gln1437Lys) c.4135C>A (p.Gln1379Lys) n.4286C>A c.4132C>A (p.Gln1378Lys) c.4306C>A (p.Gln1436Lys) | |
| 7 | g.41964765C>A | CA454657461 | GLI3 | c.4308G>T (p.Leu1436=) c.4134G>T (p.Leu1378=) n.4285G>T c.4131G>T (p.Leu1377=) c.4305G>T (p.Leu1435=) | |
| 7 | g.41964765C= | CA1702660421 | GLI3 | c.4308G= (p.Leu1436=) c.4134G= (p.Leu1378=) n.4285G= c.4131G= (p.Leu1377=) c.4305G= (p.Leu1435=) | |
| 7 | g.41964765C>G | CA454657462 | GLI3 | c.4308G>C (p.Leu1436=) c.4134G>C (p.Leu1378=) n.4285G>C c.4131G>C (p.Leu1377=) c.4305G>C (p.Leu1435=) | |
| 7 | g.41964765C>T | CA4230153 | GLI3 | c.4308G>A (p.Leu1436=) c.4134G>A (p.Leu1378=) n.4285G>A c.4131G>A (p.Leu1377=) c.4305G>A (p.Leu1435=) | dbSNP ExAC gnomAD v4 |
| 7 | g.41964766A>C | CA367315313 | GLI3 | c.4307T>G (p.Leu1436Arg) c.4133T>G (p.Leu1378Arg) n.4284T>G c.4130T>G (p.Leu1377Arg) c.4304T>G (p.Leu1435Arg) | |
| 7 | g.41964766A>G | CA367315311 | GLI3 | c.4307T>C (p.Leu1436Pro) c.4133T>C (p.Leu1378Pro) n.4284T>C c.4130T>C (p.Leu1377Pro) c.4304T>C (p.Leu1435Pro) | |
| 7 | g.41964766A>T | CA367315312 | GLI3 | c.4307T>A (p.Leu1436Gln) c.4133T>A (p.Leu1378Gln) n.4284T>A c.4130T>A (p.Leu1377Gln) c.4304T>A (p.Leu1435Gln) | |
| 7 | g.41964767G>A | CA4230154 | GLI3 | c.4306C>T (p.Leu1436=) c.4132C>T (p.Leu1378=) n.4283C>T c.4129C>T (p.Leu1377=) c.4303C>T (p.Leu1435=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41964767G>C | CA367315314 | GLI3 | c.4306C>G (p.Leu1436Val) c.4132C>G (p.Leu1378Val) n.4283C>G c.4129C>G (p.Leu1377Val) c.4303C>G (p.Leu1435Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41964767G= | CA1702660422 | GLI3 | c.4306C= (p.Leu1436=) c.4132C= (p.Leu1378=) n.4283C= c.4129C= (p.Leu1377=) c.4303C= (p.Leu1435=) | |
| 7 | g.41964767G>T | CA367315315 | GLI3 | c.4306C>A (p.Leu1436Met) c.4132C>A (p.Leu1378Met) n.4283C>A c.4129C>A (p.Leu1377Met) c.4303C>A (p.Leu1435Met) | |
| 7 | g.41964768A>C | CA367315316 | GLI3 | c.4305T>G (p.Asn1435Lys) c.4131T>G (p.Asn1377Lys) n.4282T>G c.4128T>G (p.Asn1376Lys) c.4302T>G (p.Asn1434Lys) | |
| 7 | g.41964768A>G | CA454657463 | GLI3 | c.4305T>C (p.Asn1435=) c.4131T>C (p.Asn1377=) n.4282T>C c.4128T>C (p.Asn1376=) c.4302T>C (p.Asn1434=) | |
| 7 | g.41964768A>T | CA367315317 | GLI3 | c.4305T>A (p.Asn1435Lys) c.4131T>A (p.Asn1377Lys) n.4282T>A c.4128T>A (p.Asn1376Lys) c.4302T>A (p.Asn1434Lys) | |
| 7 | g.41964769T>A | CA367315318 | GLI3 | c.4304A>T (p.Asn1435Ile) c.4130A>T (p.Asn1377Ile) n.4281A>T c.4127A>T (p.Asn1376Ile) c.4301A>T (p.Asn1434Ile) | |
| 7 | g.41964769T>C | CA367315319 | GLI3 | c.4304A>G (p.Asn1435Ser) c.4130A>G (p.Asn1377Ser) n.4281A>G c.4127A>G (p.Asn1376Ser) c.4301A>G (p.Asn1434Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41964769T>G | CA367315320 | GLI3 | c.4304A>C (p.Asn1435Thr) c.4130A>C (p.Asn1377Thr) n.4281A>C c.4127A>C (p.Asn1376Thr) c.4301A>C (p.Asn1434Thr) | |
| 7 | g.41964769T= | CA1702660423 | GLI3 | c.4304A= (p.Asn1435=) c.4130A= (p.Asn1377=) n.4281A= c.4127A= (p.Asn1376=) c.4301A= (p.Asn1434=) | |
| 7 | g.41964770T>A | CA367315321 | GLI3 | c.4303A>T (p.Asn1435Tyr) c.4129A>T (p.Asn1377Tyr) n.4280A>T c.4126A>T (p.Asn1376Tyr) c.4300A>T (p.Asn1434Tyr) | |
| 7 | g.41964770T>C | CA367315322 | GLI3 | c.4303A>G (p.Asn1435Asp) c.4129A>G (p.Asn1377Asp) n.4280A>G c.4126A>G (p.Asn1376Asp) c.4300A>G (p.Asn1434Asp) | gnomAD v4 |
| 7 | g.41964770T>G | CA367315323 | GLI3 | c.4303A>C (p.Asn1435His) c.4129A>C (p.Asn1377His) n.4280A>C c.4126A>C (p.Asn1376His) c.4300A>C (p.Asn1434His) | gnomAD v4 |
| 7 | g.41964771A>C | CA454657464 | GLI3 | c.4302T>G (p.Ser1434=) c.4128T>G (p.Ser1376=) n.4279T>G c.4125T>G (p.Ser1375=) c.4299T>G (p.Ser1433=) | |
| 7 | g.41964771A>G | CA454657465 | GLI3 | c.4302T>C (p.Ser1434=) c.4128T>C (p.Ser1376=) n.4279T>C c.4125T>C (p.Ser1375=) c.4299T>C (p.Ser1433=) | COSMIC |
| 7 | g.41964771A>T | CA454657466 | GLI3 | c.4302T>A (p.Ser1434=) c.4128T>A (p.Ser1376=) n.4279T>A c.4125T>A (p.Ser1375=) c.4299T>A (p.Ser1433=) | |
| 7 | g.41964772G>A | CA367315324 | GLI3 | c.4301C>T (p.Ser1434Phe) c.4127C>T (p.Ser1376Phe) n.4278C>T c.4124C>T (p.Ser1375Phe) c.4298C>T (p.Ser1433Phe) | dbSNP |
| 7 | g.41964772G>C | CA367315325 | GLI3 | c.4301C>G (p.Ser1434Cys) c.4127C>G (p.Ser1376Cys) n.4278C>G c.4124C>G (p.Ser1375Cys) c.4298C>G (p.Ser1433Cys) | |
| 7 | g.41964772G= | CA1702660424 | GLI3 | c.4301C= (p.Ser1434=) c.4127C= (p.Ser1376=) n.4278C= c.4124C= (p.Ser1375=) c.4298C= (p.Ser1433=) | |
| 7 | g.41964772G>T | CA4230155 | GLI3 | c.4301C>A (p.Ser1434Tyr) c.4127C>A (p.Ser1376Tyr) n.4278C>A c.4124C>A (p.Ser1375Tyr) c.4298C>A (p.Ser1433Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41964773A>C | CA367315326 | GLI3 | c.4300T>G (p.Ser1434Ala) c.4126T>G (p.Ser1376Ala) n.4277T>G c.4123T>G (p.Ser1375Ala) c.4297T>G (p.Ser1433Ala) | |
| 7 | g.41964773A>G | CA367315327 | GLI3 | c.4300T>C (p.Ser1434Pro) c.4126T>C (p.Ser1376Pro) n.4277T>C c.4123T>C (p.Ser1375Pro) c.4297T>C (p.Ser1433Pro) | |
| 7 | g.41964773A>T | CA367315328 | GLI3 | c.4300T>A (p.Ser1434Thr) c.4126T>A (p.Ser1376Thr) n.4277T>A c.4123T>A (p.Ser1375Thr) c.4297T>A (p.Ser1433Thr) | |
| 7 | g.41964774G>A | CA4230156 | GLI3 | c.4299C>T (p.Cys1433=) c.4125C>T (p.Cys1375=) n.4276C>T c.4122C>T (p.Cys1374=) c.4296C>T (p.Cys1432=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41964774G>C | CA367315329 | GLI3 | c.4299C>G (p.Cys1433Trp) c.4125C>G (p.Cys1375Trp) n.4276C>G c.4122C>G (p.Cys1374Trp) c.4296C>G (p.Cys1432Trp) | |
| 7 | g.41964774G= | CA1702660425 | GLI3 | c.4299C= (p.Cys1433=) c.4125C= (p.Cys1375=) n.4276C= c.4122C= (p.Cys1374=) c.4296C= (p.Cys1432=) | |
| 7 | g.41964774G>T | CA367315330 | GLI3 | c.4299C>A (p.Cys1433Ter) c.4125C>A (p.Cys1375Ter) n.4276C>A c.4122C>A (p.Cys1374Ter) c.4296C>A (p.Cys1432Ter) | |
| 7 | g.41964775C>A | CA367315331 | GLI3 | c.4298G>T (p.Cys1433Phe) c.4124G>T (p.Cys1375Phe) n.4275G>T c.4121G>T (p.Cys1374Phe) c.4295G>T (p.Cys1432Phe) | |
| 7 | g.41964775C>G | CA367315333 | GLI3 | c.4298G>C (p.Cys1433Ser) c.4124G>C (p.Cys1375Ser) n.4275G>C c.4121G>C (p.Cys1374Ser) c.4295G>C (p.Cys1432Ser) | |
| 7 | g.41964775C>T | CA367315332 | GLI3 | c.4298G>A (p.Cys1433Tyr) c.4124G>A (p.Cys1375Tyr) n.4275G>A c.4121G>A (p.Cys1374Tyr) c.4295G>A (p.Cys1432Tyr) | |
| 7 | g.41964776A>C | CA367315334 | GLI3 | c.4297T>G (p.Cys1433Gly) c.4123T>G (p.Cys1375Gly) n.4274T>G c.4120T>G (p.Cys1374Gly) c.4294T>G (p.Cys1432Gly) | |
| 7 | g.41964776A>G | CA367315335 | GLI3 | c.4297T>C (p.Cys1433Arg) c.4123T>C (p.Cys1375Arg) n.4274T>C c.4120T>C (p.Cys1374Arg) c.4294T>C (p.Cys1432Arg) | |
| 7 | g.41964776A>T | CA367315336 | GLI3 | c.4297T>A (p.Cys1433Ser) c.4123T>A (p.Cys1375Ser) n.4274T>A c.4120T>A (p.Cys1374Ser) c.4294T>A (p.Cys1432Ser) | |
| 7 | g.41964777C>A | CA454657467 | GLI3 | c.4296G>T (p.Leu1432=) c.4122G>T (p.Leu1374=) n.4273G>T c.4119G>T (p.Leu1373=) c.4293G>T (p.Leu1431=) | |
| 7 | g.41964777C= | CA1702660426 | GLI3 | c.4296G= (p.Leu1432=) c.4122G= (p.Leu1374=) n.4273G= c.4119G= (p.Leu1373=) c.4293G= (p.Leu1431=) | |
| 7 | g.41964777C>G | CA156902292 | GLI3 | c.4296G>C (p.Leu1432=) c.4122G>C (p.Leu1374=) n.4273G>C c.4119G>C (p.Leu1373=) c.4293G>C (p.Leu1431=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41964777C>T | CA4230157 | GLI3 | c.4296G>A (p.Leu1432=) c.4122G>A (p.Leu1374=) n.4273G>A c.4119G>A (p.Leu1373=) c.4293G>A (p.Leu1431=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.41964778A>C | CA367315339 | GLI3 | c.4295T>G (p.Leu1432Arg) c.4121T>G (p.Leu1374Arg) n.4272T>G c.4118T>G (p.Leu1373Arg) c.4292T>G (p.Leu1431Arg) | |
| 7 | g.41964778A>G | CA367315338 | GLI3 | c.4295T>C (p.Leu1432Pro) c.4121T>C (p.Leu1374Pro) n.4272T>C c.4118T>C (p.Leu1373Pro) c.4292T>C (p.Leu1431Pro) | |
| 7 | g.41964778A>T | CA367315337 | GLI3 | c.4295T>A (p.Leu1432Gln) c.4121T>A (p.Leu1374Gln) n.4272T>A c.4118T>A (p.Leu1373Gln) c.4292T>A (p.Leu1431Gln) | |
| 7 | g.41964779G>A | CA454657468 | GLI3 | c.4294C>T (p.Leu1432=) c.4120C>T (p.Leu1374=) n.4271C>T c.4117C>T (p.Leu1373=) c.4291C>T (p.Leu1431=) | gnomAD v4 |
| 7 | g.41964779G>C | CA367315340 | GLI3 | c.4294C>G (p.Leu1432Val) c.4120C>G (p.Leu1374Val) n.4271C>G c.4117C>G (p.Leu1373Val) c.4291C>G (p.Leu1431Val) | |
| 7 | g.41964779G>T | CA367315341 | GLI3 | c.4294C>A (p.Leu1432Met) c.4120C>A (p.Leu1374Met) n.4271C>A c.4117C>A (p.Leu1373Met) c.4291C>A (p.Leu1431Met) | |
| 7 | g.41964780C>A | CA454657469 | GLI3 | c.4293G>T (p.Pro1431=) c.4119G>T (p.Pro1373=) n.4270G>T c.4116G>T (p.Pro1372=) c.4290G>T (p.Pro1430=) | |
| 7 | g.41964780C= | CA1702660427 | GLI3 | c.4293G= (p.Pro1431=) c.4119G= (p.Pro1373=) n.4270G= c.4116G= (p.Pro1372=) c.4290G= (p.Pro1430=) | |
| 7 | g.41964780C>G | CA156902295 | GLI3 | c.4293G>C (p.Pro1431=) c.4119G>C (p.Pro1373=) n.4270G>C c.4116G>C (p.Pro1372=) c.4290G>C (p.Pro1430=) | dbSNP |
| 7 | g.41964780C>T | CA454657470 | GLI3 | c.4293G>A (p.Pro1431=) c.4119G>A (p.Pro1373=) n.4270G>A c.4116G>A (p.Pro1372=) c.4290G>A (p.Pro1430=) | dbSNP COSMIC |
| 7 | g.41964781G>A | CA4230158 | GLI3 | c.4292C>T (p.Pro1431Leu) c.4118C>T (p.Pro1373Leu) n.4269C>T c.4115C>T (p.Pro1372Leu) c.4289C>T (p.Pro1430Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41964781G>C | CA4230159 | GLI3 | c.4292C>G (p.Pro1431Arg) c.4118C>G (p.Pro1373Arg) n.4269C>G c.4115C>G (p.Pro1372Arg) c.4289C>G (p.Pro1430Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41964781G= | CA1702660428 | GLI3 | c.4292C= (p.Pro1431=) c.4118C= (p.Pro1373=) n.4269C= c.4115C= (p.Pro1372=) c.4289C= (p.Pro1430=) | |
| 7 | g.41964781G>T | CA367315342 | GLI3 | c.4292C>A (p.Pro1431Gln) c.4118C>A (p.Pro1373Gln) n.4269C>A c.4115C>A (p.Pro1372Gln) c.4289C>A (p.Pro1430Gln) | COSMIC |
| 7 | g.41964781_41964782insC | CA2695207617 | GLI3 | c.4291_4292insG (p.Pro1431ArgfsTer5) c.4117_4118insG (p.Pro1373ArgfsTer5) n.4268_4269insG c.4114_4115insG (p.Pro1372ArgfsTer5) c.4288_4289insG (p.Pro1430ArgfsTer5) | |
| 7 | g.41964782G>A | CA367315343 | GLI3 | c.4291C>T (p.Pro1431Ser) c.4117C>T (p.Pro1373Ser) n.4268C>T c.4114C>T (p.Pro1372Ser) c.4288C>T (p.Pro1430Ser) | |
| 7 | g.41964782G>C | CA367315344 | GLI3 | c.4291C>G (p.Pro1431Ala) c.4117C>G (p.Pro1373Ala) n.4268C>G c.4114C>G (p.Pro1372Ala) c.4288C>G (p.Pro1430Ala) | |
| 7 | g.41964782G>T | CA367315345 | GLI3 | c.4291C>A (p.Pro1431Thr) c.4117C>A (p.Pro1373Thr) n.4268C>A c.4114C>A (p.Pro1372Thr) c.4288C>A (p.Pro1430Thr) | COSMIC |
| 7 | g.41964783A>C | CA367315346 | GLI3 | c.4290T>G (p.His1430Gln) c.4116T>G (p.His1372Gln) n.4267T>G c.4113T>G (p.His1371Gln) c.4287T>G (p.His1429Gln) | |
| 7 | g.41964783A>G | CA454657471 | GLI3 | c.4290T>C (p.His1430=) c.4116T>C (p.His1372=) n.4267T>C c.4113T>C (p.His1371=) c.4287T>C (p.His1429=) | |
| 7 | g.41964783A>T | CA367315347 | GLI3 | c.4290T>A (p.His1430Gln) c.4116T>A (p.His1372Gln) n.4267T>A c.4113T>A (p.His1371Gln) c.4287T>A (p.His1429Gln) | |
| 7 | g.41964784T>A | CA367315348 | GLI3 | c.4289A>T (p.His1430Leu) c.4115A>T (p.His1372Leu) n.4266A>T c.4112A>T (p.His1371Leu) c.4286A>T (p.His1429Leu) | |
| 7 | g.41964784T>C | CA367315349 | GLI3 | c.4289A>G (p.His1430Arg) c.4115A>G (p.His1372Arg) n.4266A>G c.4112A>G (p.His1371Arg) c.4286A>G (p.His1429Arg) | gnomAD v4 |
| 7 | g.41964784T>G | CA367315350 | GLI3 | c.4289A>C (p.His1430Pro) c.4115A>C (p.His1372Pro) n.4266A>C c.4112A>C (p.His1371Pro) c.4286A>C (p.His1429Pro) | |
| 7 | g.41964785G>A | CA367315353 | GLI3 | c.4288C>T (p.His1430Tyr) c.4114C>T (p.His1372Tyr) n.4265C>T c.4111C>T (p.His1371Tyr) c.4285C>T (p.His1429Tyr) | gnomAD v4 |
| 7 | g.41964785G>C | CA367315352 | GLI3 | c.4288C>G (p.His1430Asp) c.4114C>G (p.His1372Asp) n.4265C>G c.4111C>G (p.His1371Asp) c.4285C>G (p.His1429Asp) | |
| 7 | g.41964785G>T | CA367315351 | GLI3 | c.4288C>A (p.His1430Asn) c.4114C>A (p.His1372Asn) n.4265C>A c.4111C>A (p.His1371Asn) c.4285C>A (p.His1429Asn) | |
| 7 | g.41964788del | CA2695207618 | GLI3 | c.4288del (p.His1430IlefsTer?) c.4114del (p.His1372IlefsTer?) n.4265del c.4111del (p.His1371IlefsTer?) c.4285del (p.His1429IlefsTer?) | |
| 7 | g.41964786G>A | CA454662061 | GLI3 | c.4287C>T (p.Pro1429=) c.4113C>T (p.Pro1371=) n.4264C>T c.4110C>T (p.Pro1370=) c.4284C>T (p.Pro1428=) | |
| 7 | g.41964786G>C | CA454662064 | GLI3 | c.4287C>G (p.Pro1429=) c.4113C>G (p.Pro1371=) n.4264C>G c.4110C>G (p.Pro1370=) c.4284C>G (p.Pro1428=) | gnomAD v4 |
| 7 | g.41964786G>T | CA454662066 | GLI3 | c.4287C>A (p.Pro1429=) c.4113C>A (p.Pro1371=) n.4264C>A c.4110C>A (p.Pro1370=) c.4284C>A (p.Pro1428=) | |
| 7 | g.41964787G>A | CA367315354 | GLI3 | c.4286C>T (p.Pro1429Leu) c.4112C>T (p.Pro1371Leu) n.4263C>T c.4109C>T (p.Pro1370Leu) c.4283C>T (p.Pro1428Leu) | COSMIC |
| 7 | g.41964787G>C | CA367315355 | GLI3 | c.4286C>G (p.Pro1429Arg) c.4112C>G (p.Pro1371Arg) n.4263C>G c.4109C>G (p.Pro1370Arg) c.4283C>G (p.Pro1428Arg) | gnomAD v4 |
| 7 | g.41964787G>T | CA367315356 | GLI3 | c.4286C>A (p.Pro1429His) c.4112C>A (p.Pro1371His) n.4263C>A c.4109C>A (p.Pro1370His) c.4283C>A (p.Pro1428His) | |
| 7 | g.41964788G>A | CA367315357 | GLI3 | c.4285C>T (p.Pro1429Ser) c.4111C>T (p.Pro1371Ser) n.4262C>T c.4108C>T (p.Pro1370Ser) c.4282C>T (p.Pro1428Ser) | dbSNP COSMIC |
| 7 | g.41964788G>C | CA367315358 | GLI3 | c.4285C>G (p.Pro1429Ala) c.4111C>G (p.Pro1371Ala) n.4262C>G c.4108C>G (p.Pro1370Ala) c.4282C>G (p.Pro1428Ala) | |
| 7 | g.41964788G= | CA1702660429 | GLI3 | c.4285C= (p.Pro1429=) c.4111C= (p.Pro1371=) n.4262C= c.4108C= (p.Pro1370=) c.4282C= (p.Pro1428=) | |
| 7 | g.41964788G>T | CA156902316 | GLI3 | c.4285C>A (p.Pro1429Thr) c.4111C>A (p.Pro1371Thr) n.4262C>A c.4108C>A (p.Pro1370Thr) c.4282C>A (p.Pro1428Thr) | dbSNP |
| 7 | g.41964789C>A | CA4230160 | GLI3 | c.4284G>T (p.Gln1428His) c.4110G>T (p.Gln1370His) n.4261G>T c.4107G>T (p.Gln1369His) c.4281G>T (p.Gln1427His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41964789C= | CA1702660430 | GLI3 | c.4284G= (p.Gln1428=) c.4110G= (p.Gln1370=) n.4261G= c.4107G= (p.Gln1369=) c.4281G= (p.Gln1427=) | |
| 7 | g.41964789C>G | CA367315359 | GLI3 | c.4284G>C (p.Gln1428His) c.4110G>C (p.Gln1370His) n.4261G>C c.4107G>C (p.Gln1369His) c.4281G>C (p.Gln1427His) | |
| 7 | g.41964789C>T | CA454662069 | GLI3 | c.4284G>A (p.Gln1428=) c.4110G>A (p.Gln1370=) n.4261G>A c.4107G>A (p.Gln1369=) c.4281G>A (p.Gln1427=) | dbSNP |
| 7 | g.41964790T>A | CA367315360 | GLI3 | c.4283A>T (p.Gln1428Leu) c.4109A>T (p.Gln1370Leu) n.4260A>T c.4106A>T (p.Gln1369Leu) c.4280A>T (p.Gln1427Leu) | |
| 7 | g.41964790T>C | CA367315361 | GLI3 | c.4283A>G (p.Gln1428Arg) c.4109A>G (p.Gln1370Arg) n.4260A>G c.4106A>G (p.Gln1369Arg) c.4280A>G (p.Gln1427Arg) | |
| 7 | g.41964790T>G | CA4230161 | GLI3 | c.4283A>C (p.Gln1428Pro) c.4109A>C (p.Gln1370Pro) n.4260A>C c.4106A>C (p.Gln1369Pro) c.4280A>C (p.Gln1427Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41964790T= | CA1702660431 | GLI3 | c.4283A= (p.Gln1428=) c.4109A= (p.Gln1370=) n.4260A= c.4106A= (p.Gln1369=) c.4280A= (p.Gln1427=) | |
| 7 | g.41964790dup | CA2573142119 | GLI3 | c.4283dup (p.Pro1429AlafsTer7) c.4109dup (p.Pro1371AlafsTer7) n.4260dup c.4106dup (p.Pro1370AlafsTer7) c.4280dup (p.Pro1428AlafsTer7) | ClinVar dbSNP |
| 7 | g.41964791G>A | CA367315362 | GLI3 | c.4282C>T (p.Gln1428Ter) c.4108C>T (p.Gln1370Ter) n.4259C>T c.4105C>T (p.Gln1369Ter) c.4279C>T (p.Gln1427Ter) | |
| 7 | g.41964791G>C | CA367315363 | GLI3 | c.4282C>G (p.Gln1428Glu) c.4108C>G (p.Gln1370Glu) n.4259C>G c.4105C>G (p.Gln1369Glu) c.4279C>G (p.Gln1427Glu) | |
| 7 | g.41964791G>T | CA367315364 | GLI3 | c.4282C>A (p.Gln1428Lys) c.4108C>A (p.Gln1370Lys) n.4259C>A c.4105C>A (p.Gln1369Lys) c.4279C>A (p.Gln1427Lys) | |
| 7 | g.41964792C>A | CA454662071 | GLI3 | c.4281G>T (p.Gly1427=) c.4107G>T (p.Gly1369=) n.4258G>T c.4104G>T (p.Gly1368=) c.4278G>T (p.Gly1426=) | |
| 7 | g.41964792C= | CA1702660432 | GLI3 | c.4281G= (p.Gly1427=) c.4107G= (p.Gly1369=) n.4258G= c.4104G= (p.Gly1368=) c.4278G= (p.Gly1426=) | |
| 7 | g.41964792C>G | CA4230162 | GLI3 | c.4281G>C (p.Gly1427=) c.4107G>C (p.Gly1369=) n.4258G>C c.4104G>C (p.Gly1368=) c.4278G>C (p.Gly1426=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41964792C>T | CA454662073 | GLI3 | c.4281G>A (p.Gly1427=) c.4107G>A (p.Gly1369=) n.4258G>A c.4104G>A (p.Gly1368=) c.4278G>A (p.Gly1426=) | |
| 7 | g.41964793C>A | CA367315366 | GLI3 | c.4280G>T (p.Gly1427Val) c.4106G>T (p.Gly1369Val) n.4257G>T c.4103G>T (p.Gly1368Val) c.4277G>T (p.Gly1426Val) | gnomAD v4 |
| 7 | g.41964793C>G | CA367315367 | GLI3 | c.4280G>C (p.Gly1427Ala) c.4106G>C (p.Gly1369Ala) n.4257G>C c.4103G>C (p.Gly1368Ala) c.4277G>C (p.Gly1426Ala) | gnomAD v4 |
| 7 | g.41964793C>T | CA367315365 | GLI3 | c.4280G>A (p.Gly1427Glu) c.4106G>A (p.Gly1369Glu) n.4257G>A c.4103G>A (p.Gly1368Glu) c.4277G>A (p.Gly1426Glu) | |
| 7 | g.41964794C>A | CA367315368 | GLI3 | c.4279G>T (p.Gly1427Trp) c.4105G>T (p.Gly1369Trp) n.4256G>T c.4102G>T (p.Gly1368Trp) c.4276G>T (p.Gly1426Trp) | |
| 7 | g.41964794C>G | CA367315369 | GLI3 | c.4279G>C (p.Gly1427Arg) c.4105G>C (p.Gly1369Arg) n.4256G>C c.4102G>C (p.Gly1368Arg) c.4276G>C (p.Gly1426Arg) | |
| 7 | g.41964794C>T | CA367315370 | GLI3 | c.4279G>A (p.Gly1427Arg) c.4105G>A (p.Gly1369Arg) n.4256G>A c.4102G>A (p.Gly1368Arg) c.4276G>A (p.Gly1426Arg) | |
| 7 | g.41964795T>A | CA367315371 | GLI3 | c.4278A>T (p.Lys1426Asn) c.4104A>T (p.Lys1368Asn) n.4255A>T c.4101A>T (p.Lys1367Asn) c.4275A>T (p.Lys1425Asn) | |
| 7 | g.41964795T>C | CA454662077 | GLI3 | c.4278A>G (p.Lys1426=) c.4104A>G (p.Lys1368=) n.4255A>G c.4101A>G (p.Lys1367=) c.4275A>G (p.Lys1425=) | |
| 7 | g.41964795T>G | CA367315372 | GLI3 | c.4278A>C (p.Lys1426Asn) c.4104A>C (p.Lys1368Asn) n.4255A>C c.4101A>C (p.Lys1367Asn) c.4275A>C (p.Lys1425Asn) | |
| 7 | g.41964796T>A | CA4230163 | GLI3 | c.4277A>T (p.Lys1426Ile) c.4103A>T (p.Lys1368Ile) n.4254A>T c.4100A>T (p.Lys1367Ile) c.4274A>T (p.Lys1425Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41964796T>C | CA367315374 | GLI3 | c.4277A>G (p.Lys1426Arg) c.4103A>G (p.Lys1368Arg) n.4254A>G c.4100A>G (p.Lys1367Arg) c.4274A>G (p.Lys1425Arg) | gnomAD v4 |
| 7 | g.41964796T>G | CA367315373 | GLI3 | c.4277A>C (p.Lys1426Thr) c.4103A>C (p.Lys1368Thr) n.4254A>C c.4100A>C (p.Lys1367Thr) c.4274A>C (p.Lys1425Thr) | |
| 7 | g.41964796T= | CA1702660433 | GLI3 | c.4277A= (p.Lys1426=) c.4103A= (p.Lys1368=) n.4254A= c.4100A= (p.Lys1367=) c.4274A= (p.Lys1425=) | |
| 7 | g.41964796_41964799delinsTTCA | CA1702660434 | GLI3 | c.4274_4277delinsTGAA (p.Met1425=) c.4100_4103delinsTGAA (p.Met1367=) n.4251_4254delinsTGAA c.4097_4100delinsTGAA (p.Met1366=) c.4271_4274delinsTGAA (p.Met1424=) | |
| 7 | g.41964797T>A | CA367315375 | GLI3 | c.4276A>T (p.Lys1426Ter) c.4102A>T (p.Lys1368Ter) n.4253A>T c.4099A>T (p.Lys1367Ter) c.4273A>T (p.Lys1425Ter) | |
| 7 | g.41964797T>C | CA367315376 | GLI3 | c.4276A>G (p.Lys1426Glu) c.4102A>G (p.Lys1368Glu) n.4253A>G c.4099A>G (p.Lys1367Glu) c.4273A>G (p.Lys1425Glu) | |
| 7 | g.41964797T>G | CA367315377 | GLI3 | c.4276A>C (p.Lys1426Gln) c.4102A>C (p.Lys1368Gln) n.4253A>C c.4099A>C (p.Lys1367Gln) c.4273A>C (p.Lys1425Gln) | |
| 7 | g.41964799_41964801del | CA573852972 | GLI3 | c.4274_4276del (p.Met1425del) c.4100_4102del (p.Met1367del) n.4251_4253del c.4097_4099del (p.Met1366del) c.4271_4273del (p.Met1424del) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41964798C>A | CA367315378 | GLI3 | c.4275G>T (p.Met1425Ile) c.4101G>T (p.Met1367Ile) n.4252G>T c.4098G>T (p.Met1366Ile) c.4272G>T (p.Met1424Ile) | |
| 7 | g.41964798C>G | CA367315379 | GLI3 | c.4275G>C (p.Met1425Ile) c.4101G>C (p.Met1367Ile) n.4252G>C c.4098G>C (p.Met1366Ile) c.4272G>C (p.Met1424Ile) | |
| 7 | g.41964798C>T | CA367315380 | GLI3 | c.4275G>A (p.Met1425Ile) c.4101G>A (p.Met1367Ile) n.4252G>A c.4098G>A (p.Met1366Ile) c.4272G>A (p.Met1424Ile) | gnomAD v4 |
| 7 | g.41964799A>C | CA367315381 | GLI3 | c.4274T>G (p.Met1425Arg) c.4100T>G (p.Met1367Arg) n.4251T>G c.4097T>G (p.Met1366Arg) c.4271T>G (p.Met1424Arg) | |
| 7 | g.41964799A>G | CA367315383 | GLI3 | c.4274T>C (p.Met1425Thr) c.4100T>C (p.Met1367Thr) n.4251T>C c.4097T>C (p.Met1366Thr) c.4271T>C (p.Met1424Thr) | gnomAD v4 |
| 7 | g.41964799A>T | CA367315382 | GLI3 | c.4274T>A (p.Met1425Lys) c.4100T>A (p.Met1367Lys) n.4251T>A c.4097T>A (p.Met1366Lys) c.4271T>A (p.Met1424Lys) | |
| 7 | g.41964800T>A | CA367315384 | GLI3 | c.4273A>T (p.Met1425Leu) c.4099A>T (p.Met1367Leu) n.4250A>T c.4096A>T (p.Met1366Leu) c.4270A>T (p.Met1424Leu) | |
| 7 | g.41964800T>C | CA367315385 | GLI3 | c.4273A>G (p.Met1425Val) c.4099A>G (p.Met1367Val) n.4250A>G c.4096A>G (p.Met1366Val) c.4270A>G (p.Met1424Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.41964800T>G | CA367315386 | GLI3 | c.4273A>C (p.Met1425Leu) c.4099A>C (p.Met1367Leu) n.4250A>C c.4096A>C (p.Met1366Leu) c.4270A>C (p.Met1424Leu) | |
| 7 | g.41964800T= | CA1702660435 | GLI3 | c.4273A= (p.Met1425=) c.4099A= (p.Met1367=) n.4250A= c.4096A= (p.Met1366=) c.4270A= (p.Met1424=) | |
| 7 | g.41964801C>A | CA367315387 | GLI3 | c.4272G>T (p.Glu1424Asp) c.4098G>T (p.Glu1366Asp) n.4249G>T c.4095G>T (p.Glu1365Asp) c.4269G>T (p.Glu1423Asp) | |
| 7 | g.41964801C= | CA1702660436 | GLI3 | c.4272G= (p.Glu1424=) c.4098G= (p.Glu1366=) n.4249G= c.4095G= (p.Glu1365=) c.4269G= (p.Glu1423=) | |
| 7 | g.41964801C>G | CA367315388 | GLI3 | c.4272G>C (p.Glu1424Asp) c.4098G>C (p.Glu1366Asp) n.4249G>C c.4095G>C (p.Glu1365Asp) c.4269G>C (p.Glu1423Asp) | |
| 7 | g.41964801C>T | CA454662088 | GLI3 | c.4272G>A (p.Glu1424=) c.4098G>A (p.Glu1366=) n.4249G>A c.4095G>A (p.Glu1365=) c.4269G>A (p.Glu1423=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41964802T>A | CA367315389 | GLI3 | c.4271A>T (p.Glu1424Val) c.4097A>T (p.Glu1366Val) n.4248A>T c.4094A>T (p.Glu1365Val) c.4268A>T (p.Glu1423Val) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41964802T>C | CA367315390 | GLI3 | c.4271A>G (p.Glu1424Gly) c.4097A>G (p.Glu1366Gly) n.4248A>G c.4094A>G (p.Glu1365Gly) c.4268A>G (p.Glu1423Gly) | |
| 7 | g.41964802T>G | CA367315391 | GLI3 | c.4271A>C (p.Glu1424Ala) c.4097A>C (p.Glu1366Ala) n.4248A>C c.4094A>C (p.Glu1365Ala) c.4268A>C (p.Glu1423Ala) | |
| 7 | g.41964802T= | CA1702660437 | GLI3 | c.4271A= (p.Glu1424=) c.4097A= (p.Glu1366=) n.4248A= c.4094A= (p.Glu1365=) c.4268A= (p.Glu1423=) | |
| 7 | g.41964803C>A | CA367315392 | GLI3 | c.4270G>T (p.Glu1424Ter) c.4096G>T (p.Glu1366Ter) n.4247G>T c.4093G>T (p.Glu1365Ter) c.4267G>T (p.Glu1423Ter) | |
| 7 | g.41964803C>G | CA367315393 | GLI3 | c.4270G>C (p.Glu1424Gln) c.4096G>C (p.Glu1366Gln) n.4247G>C c.4093G>C (p.Glu1365Gln) c.4267G>C (p.Glu1423Gln) | gnomAD v4 |
| 7 | g.41964803C>T | CA367315394 | GLI3 | c.4270G>A (p.Glu1424Lys) c.4096G>A (p.Glu1366Lys) n.4247G>A c.4093G>A (p.Glu1365Lys) c.4267G>A (p.Glu1423Lys) | |
| 7 | g.41964804C>A | CA367315395 | GLI3 | c.4269G>T (p.Met1423Ile) c.4095G>T (p.Met1365Ile) n.4246G>T c.4092G>T (p.Met1364Ile) c.4266G>T (p.Met1422Ile) | |
| 7 | g.41964804C= | CA1702660438 | GLI3 | c.4269G= (p.Met1423=) c.4095G= (p.Met1365=) n.4246G= c.4092G= (p.Met1364=) c.4266G= (p.Met1422=) | |
| 7 | g.41964804C>G | CA367315397 | GLI3 | c.4269G>C (p.Met1423Ile) c.4095G>C (p.Met1365Ile) n.4246G>C c.4092G>C (p.Met1364Ile) c.4266G>C (p.Met1422Ile) | |
| 7 | g.41964804C>T | CA367315396 | GLI3 | c.4269G>A (p.Met1423Ile) c.4095G>A (p.Met1365Ile) n.4246G>A c.4092G>A (p.Met1364Ile) c.4266G>A (p.Met1422Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41964805A>C | CA367315398 | GLI3 | c.4268T>G (p.Met1423Arg) c.4094T>G (p.Met1365Arg) n.4245T>G c.4091T>G (p.Met1364Arg) c.4265T>G (p.Met1422Arg) | |
| 7 | g.41964805A>G | CA367315400 | GLI3 | c.4268T>C (p.Met1423Thr) c.4094T>C (p.Met1365Thr) n.4245T>C c.4091T>C (p.Met1364Thr) c.4265T>C (p.Met1422Thr) | gnomAD v4 |
| 7 | g.41964805A>T | CA367315399 | GLI3 | c.4268T>A (p.Met1423Lys) c.4094T>A (p.Met1365Lys) n.4245T>A c.4091T>A (p.Met1364Lys) c.4265T>A (p.Met1422Lys) | |
| 7 | g.41964806T>A | CA367315401 | GLI3 | c.4267A>T (p.Met1423Leu) c.4093A>T (p.Met1365Leu) n.4244A>T c.4090A>T (p.Met1364Leu) c.4264A>T (p.Met1422Leu) | ClinVar dbSNP gnomAD v4 |
| 7 | g.41964806T>C | CA367315402 | GLI3 | c.4267A>G (p.Met1423Val) c.4093A>G (p.Met1365Val) n.4244A>G c.4090A>G (p.Met1364Val) c.4264A>G (p.Met1422Val) | |
| 7 | g.41964806T>G | CA367315403 | GLI3 | c.4267A>C (p.Met1423Leu) c.4093A>C (p.Met1365Leu) n.4244A>C c.4090A>C (p.Met1364Leu) c.4264A>C (p.Met1422Leu) | |
| 7 | g.41964806T= | CA1702660439 | GLI3 | c.4267A= (p.Met1423=) c.4093A= (p.Met1365=) n.4244A= c.4090A= (p.Met1364=) c.4264A= (p.Met1422=) | |
| 7 | g.41964807C>A | CA367315404 | GLI3 | c.4266G>T (p.Lys1422Asn) c.4092G>T (p.Lys1364Asn) n.4243G>T c.4089G>T (p.Lys1363Asn) c.4263G>T (p.Lys1421Asn) | |
| 7 | g.41964807C>G | CA367315405 | GLI3 | c.4266G>C (p.Lys1422Asn) c.4092G>C (p.Lys1364Asn) n.4243G>C c.4089G>C (p.Lys1363Asn) c.4263G>C (p.Lys1421Asn) | |
| 7 | g.41964807C>T | CA454662102 | GLI3 | c.4266G>A (p.Lys1422=) c.4092G>A (p.Lys1364=) n.4243G>A c.4089G>A (p.Lys1363=) c.4263G>A (p.Lys1421=) | |
| 7 | g.41964808T>A | CA367315406 | GLI3 | c.4265A>T (p.Lys1422Met) c.4091A>T (p.Lys1364Met) n.4242A>T c.4088A>T (p.Lys1363Met) c.4262A>T (p.Lys1421Met) | |
| 7 | g.41964808T>C | CA367315407 | GLI3 | c.4265A>G (p.Lys1422Arg) c.4091A>G (p.Lys1364Arg) n.4242A>G c.4088A>G (p.Lys1363Arg) c.4262A>G (p.Lys1421Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41964808T>G | CA367315408 | GLI3 | c.4265A>C (p.Lys1422Thr) c.4091A>C (p.Lys1364Thr) n.4242A>C c.4088A>C (p.Lys1363Thr) c.4262A>C (p.Lys1421Thr) | |
| 7 | g.41964808T= | CA1702660440 | GLI3 | c.4265A= (p.Lys1422=) c.4091A= (p.Lys1364=) n.4242A= c.4088A= (p.Lys1363=) c.4262A= (p.Lys1421=) | |
| 7 | g.41964809T>A | CA367315409 | GLI3 | c.4264A>T (p.Lys1422Ter) c.4090A>T (p.Lys1364Ter) n.4241A>T c.4087A>T (p.Lys1363Ter) c.4261A>T (p.Lys1421Ter) | |
| 7 | g.41964809T>C | CA367315410 | GLI3 | c.4264A>G (p.Lys1422Glu) c.4090A>G (p.Lys1364Glu) n.4241A>G c.4087A>G (p.Lys1363Glu) c.4261A>G (p.Lys1421Glu) | |
| 7 | g.41964809T>G | CA367315411 | GLI3 | c.4264A>C (p.Lys1422Gln) c.4090A>C (p.Lys1364Gln) n.4241A>C c.4087A>C (p.Lys1363Gln) c.4261A>C (p.Lys1421Gln) | |
| 7 | g.41964810G>A | CA454662108 | GLI3 | c.4263C>T (p.Ile1421=) c.4089C>T (p.Ile1363=) n.4240C>T c.4086C>T (p.Ile1362=) c.4260C>T (p.Ile1420=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41964810G>C | CA367315412 | GLI3 | c.4263C>G (p.Ile1421Met) c.4089C>G (p.Ile1363Met) n.4240C>G c.4086C>G (p.Ile1362Met) c.4260C>G (p.Ile1420Met) | gnomAD v4 |
| 7 | g.41964810G= | CA1702660441 | GLI3 | c.4263C= (p.Ile1421=) c.4089C= (p.Ile1363=) n.4240C= c.4086C= (p.Ile1362=) c.4260C= (p.Ile1420=) | |
| 7 | g.41964810G>T | CA454662111 | GLI3 | c.4263C>A (p.Ile1421=) c.4089C>A (p.Ile1363=) n.4240C>A c.4086C>A (p.Ile1362=) c.4260C>A (p.Ile1420=) | |
| 7 | g.41964811A>C | CA367315415 | GLI3 | c.4262T>G (p.Ile1421Ser) c.4088T>G (p.Ile1363Ser) n.4239T>G c.4085T>G (p.Ile1362Ser) c.4259T>G (p.Ile1420Ser) | |
| 7 | g.41964811A>G | CA367315413 | GLI3 | c.4262T>C (p.Ile1421Thr) c.4088T>C (p.Ile1363Thr) n.4239T>C c.4085T>C (p.Ile1362Thr) c.4259T>C (p.Ile1420Thr) | |
| 7 | g.41964811A>T | CA367315414 | GLI3 | c.4262T>A (p.Ile1421Asn) c.4088T>A (p.Ile1363Asn) n.4239T>A c.4085T>A (p.Ile1362Asn) c.4259T>A (p.Ile1420Asn) | |
| 7 | g.41964812T>A | CA367315416 | GLI3 | c.4261A>T (p.Ile1421Phe) c.4087A>T (p.Ile1363Phe) n.4238A>T c.4084A>T (p.Ile1362Phe) c.4258A>T (p.Ile1420Phe) | |
| 7 | g.41964812T>C | CA367315417 | GLI3 | c.4261A>G (p.Ile1421Val) c.4087A>G (p.Ile1363Val) n.4238A>G c.4084A>G (p.Ile1362Val) c.4258A>G (p.Ile1420Val) | |
| 7 | g.41964812T>G | CA367315418 | GLI3 | c.4261A>C (p.Ile1421Leu) c.4087A>C (p.Ile1363Leu) n.4238A>C c.4084A>C (p.Ile1362Leu) c.4258A>C (p.Ile1420Leu) | |
| 7 | g.41964813A>C | CA454662115 | GLI3 | c.4260T>G (p.Gly1420=) c.4086T>G (p.Gly1362=) n.4237T>G c.4083T>G (p.Gly1361=) c.4257T>G (p.Gly1419=) | |
| 7 | g.41964813A>G | CA454662118 | GLI3 | c.4260T>C (p.Gly1420=) c.4086T>C (p.Gly1362=) n.4237T>C c.4083T>C (p.Gly1361=) c.4257T>C (p.Gly1419=) | dbSNP |
| 7 | g.41964813A>T | CA454662121 | GLI3 | c.4260T>A (p.Gly1420=) c.4086T>A (p.Gly1362=) n.4237T>A c.4083T>A (p.Gly1361=) c.4257T>A (p.Gly1419=) | |
| 7 | g.41964814C>A | CA367315419 | GLI3 | c.4259G>T (p.Gly1420Val) c.4085G>T (p.Gly1362Val) n.4236G>T c.4082G>T (p.Gly1361Val) c.4256G>T (p.Gly1419Val) | |
| 7 | g.41964814C>G | CA367315420 | GLI3 | c.4259G>C (p.Gly1420Ala) c.4085G>C (p.Gly1362Ala) n.4236G>C c.4082G>C (p.Gly1361Ala) c.4256G>C (p.Gly1419Ala) | |
| 7 | g.41964814C>T | CA367315421 | GLI3 | c.4259G>A (p.Gly1420Asp) c.4085G>A (p.Gly1362Asp) n.4236G>A c.4082G>A (p.Gly1361Asp) c.4256G>A (p.Gly1419Asp) | |
| 7 | g.41964815_41964819del | CA2695207619 | GLI3 | c.4255_4259del (p.Asn1419TyrfsTer15) c.4081_4085del (p.Asn1361TyrfsTer15) n.4232_4236del c.4078_4082del (p.Asn1360TyrfsTer15) c.4252_4256del (p.Asn1418TyrfsTer15) | |
| 7 | g.41964815C>A | CA367315422 | GLI3 | c.4258G>T (p.Gly1420Cys) c.4084G>T (p.Gly1362Cys) n.4235G>T c.4081G>T (p.Gly1361Cys) c.4255G>T (p.Gly1419Cys) | |
| 7 | g.41964815C= | CA1702660442 | GLI3 | c.4258G= (p.Gly1420=) c.4084G= (p.Gly1362=) n.4235G= c.4081G= (p.Gly1361=) c.4255G= (p.Gly1419=) | |
| 7 | g.41964815C>G | CA367315423 | GLI3 | c.4258G>C (p.Gly1420Arg) c.4084G>C (p.Gly1362Arg) n.4235G>C c.4081G>C (p.Gly1361Arg) c.4255G>C (p.Gly1419Arg) | |
| 7 | g.41964815C>T | CA4230164 | GLI3 | c.4258G>A (p.Gly1420Ser) c.4084G>A (p.Gly1362Ser) n.4235G>A c.4081G>A (p.Gly1361Ser) c.4255G>A (p.Gly1419Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41964816A>C | CA367315424 | GLI3 | c.4257T>G (p.Asn1419Lys) c.4083T>G (p.Asn1361Lys) n.4234T>G c.4080T>G (p.Asn1360Lys) c.4254T>G (p.Asn1418Lys) | |
| 7 | g.41964816A>G | CA454662125 | GLI3 | c.4257T>C (p.Asn1419=) c.4083T>C (p.Asn1361=) n.4234T>C c.4080T>C (p.Asn1360=) c.4254T>C (p.Asn1418=) | |
| 7 | g.41964816A>T | CA367315425 | GLI3 | c.4257T>A (p.Asn1419Lys) c.4083T>A (p.Asn1361Lys) n.4234T>A c.4080T>A (p.Asn1360Lys) c.4254T>A (p.Asn1418Lys) | |
| 7 | g.41964817T>A | CA367315428 | GLI3 | c.4256A>T (p.Asn1419Ile) c.4082A>T (p.Asn1361Ile) n.4233A>T c.4079A>T (p.Asn1360Ile) c.4253A>T (p.Asn1418Ile) | gnomAD v4 |
| 7 | g.41964817T>C | CA367315427 | GLI3 | c.4256A>G (p.Asn1419Ser) c.4082A>G (p.Asn1361Ser) n.4233A>G c.4079A>G (p.Asn1360Ser) c.4253A>G (p.Asn1418Ser) | |
| 7 | g.41964817T>G | CA367315426 | GLI3 | c.4256A>C (p.Asn1419Thr) c.4082A>C (p.Asn1361Thr) n.4233A>C c.4079A>C (p.Asn1360Thr) c.4253A>C (p.Asn1418Thr) | |
| 7 | g.41964818T>A | CA367315429 | GLI3 | c.4255A>T (p.Asn1419Tyr) c.4081A>T (p.Asn1361Tyr) n.4232A>T c.4078A>T (p.Asn1360Tyr) c.4252A>T (p.Asn1418Tyr) | |
| 7 | g.41964818T>C | CA367315430 | GLI3 | c.4255A>G (p.Asn1419Asp) c.4081A>G (p.Asn1361Asp) n.4232A>G c.4078A>G (p.Asn1360Asp) c.4252A>G (p.Asn1418Asp) | |
| 7 | g.41964818T>G | CA367315431 | GLI3 | c.4255A>C (p.Asn1419His) c.4081A>C (p.Asn1361His) n.4232A>C c.4078A>C (p.Asn1360His) c.4252A>C (p.Asn1418His) | |
| 7 | g.41964819C>A | CA454662132 | GLI3 | c.4254G>T (p.Val1418=) c.4080G>T (p.Val1360=) n.4231G>T c.4077G>T (p.Val1359=) c.4251G>T (p.Val1417=) | |
| 7 | g.41964819C>G | CA454662134 | GLI3 | c.4254G>C (p.Val1418=) c.4080G>C (p.Val1360=) n.4231G>C c.4077G>C (p.Val1359=) c.4251G>C (p.Val1417=) | |
| 7 | g.41964819C>T | CA454662135 | GLI3 | c.4254G>A (p.Val1418=) c.4080G>A (p.Val1360=) n.4231G>A c.4077G>A (p.Val1359=) c.4251G>A (p.Val1417=) | |
| 7 | g.41964820A= | CA1702660443 | GLI3 | c.4253T= (p.Val1418=) c.4079T= (p.Val1360=) n.4230T= c.4076T= (p.Val1359=) c.4250T= (p.Val1417=) | |
| 7 | g.41964820A>C | CA367315432 | GLI3 | c.4253T>G (p.Val1418Gly) c.4079T>G (p.Val1360Gly) n.4230T>G c.4076T>G (p.Val1359Gly) c.4250T>G (p.Val1417Gly) | |
| 7 | g.41964820A>G | CA367315433 | GLI3 | c.4253T>C (p.Val1418Ala) c.4079T>C (p.Val1360Ala) n.4230T>C c.4076T>C (p.Val1359Ala) c.4250T>C (p.Val1417Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41964820A>T | CA367315434 | GLI3 | c.4253T>A (p.Val1418Glu) c.4079T>A (p.Val1360Glu) n.4230T>A c.4076T>A (p.Val1359Glu) c.4250T>A (p.Val1417Glu) | |
| 7 | g.41964821C>A | CA367315435 | GLI3 | c.4252G>T (p.Val1418Leu) c.4078G>T (p.Val1360Leu) n.4229G>T c.4075G>T (p.Val1359Leu) c.4249G>T (p.Val1417Leu) | gnomAD v4 COSMIC |
| 7 | g.41964821C>G | CA367315436 | GLI3 | c.4252G>C (p.Val1418Leu) c.4078G>C (p.Val1360Leu) n.4229G>C c.4075G>C (p.Val1359Leu) c.4249G>C (p.Val1417Leu) | |
| 7 | g.41964821C>T | CA367315437 | GLI3 | c.4252G>A (p.Val1418Met) c.4078G>A (p.Val1360Met) n.4229G>A c.4075G>A (p.Val1359Met) c.4249G>A (p.Val1417Met) | |
| 7 | g.41964822C>A | CA367315438 | GLI3 | c.4251G>T (p.Arg1417Ser) c.4077G>T (p.Arg1359Ser) n.4228G>T c.4074G>T (p.Arg1358Ser) c.4248G>T (p.Arg1416Ser) | |
| 7 | g.41964822C>G | CA367315439 | GLI3 | c.4251G>C (p.Arg1417Ser) c.4077G>C (p.Arg1359Ser) n.4228G>C c.4074G>C (p.Arg1358Ser) c.4248G>C (p.Arg1416Ser) | |
| 7 | g.41964822C>T | CA454662141 | GLI3 | c.4251G>A (p.Arg1417=) c.4077G>A (p.Arg1359=) n.4228G>A c.4074G>A (p.Arg1358=) c.4248G>A (p.Arg1416=) | gnomAD v4 |
| 7 | g.41964823C>A | CA367315440 | GLI3 | c.4250G>T (p.Arg1417Met) c.4076G>T (p.Arg1359Met) n.4227G>T c.4073G>T (p.Arg1358Met) c.4247G>T (p.Arg1416Met) | COSMIC |
| 7 | g.41964823C>G | CA367315441 | GLI3 | c.4250G>C (p.Arg1417Thr) c.4076G>C (p.Arg1359Thr) n.4227G>C c.4073G>C (p.Arg1358Thr) c.4247G>C (p.Arg1416Thr) | gnomAD v4 |
| 7 | g.41964823C>T | CA367315442 | GLI3 | c.4250G>A (p.Arg1417Lys) c.4076G>A (p.Arg1359Lys) n.4227G>A c.4073G>A (p.Arg1358Lys) c.4247G>A (p.Arg1416Lys) | |
| 7 | g.41964824T>A | CA367315443 | GLI3 | c.4249A>T (p.Arg1417Trp) c.4075A>T (p.Arg1359Trp) n.4226A>T c.4072A>T (p.Arg1358Trp) c.4246A>T (p.Arg1416Trp) | |
| 7 | g.41964824T>C | CA367315444 | GLI3 | c.4249A>G (p.Arg1417Gly) c.4075A>G (p.Arg1359Gly) n.4226A>G c.4072A>G (p.Arg1358Gly) c.4246A>G (p.Arg1416Gly) | |
| 7 | g.41964824T>G | CA454662147 | GLI3 | c.4249A>C (p.Arg1417=) c.4075A>C (p.Arg1359=) n.4226A>C c.4072A>C (p.Arg1358=) c.4246A>C (p.Arg1416=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41964824T= | CA1702660444 | GLI3 | c.4249A= (p.Arg1417=) c.4075A= (p.Arg1359=) n.4226A= c.4072A= (p.Arg1358=) c.4246A= (p.Arg1416=) | |
| 7 | g.41964825G>A | CA454662148 | GLI3 | c.4248C>T (p.Cys1416=) c.4074C>T (p.Cys1358=) n.4225C>T c.4071C>T (p.Cys1357=) c.4245C>T (p.Cys1415=) | |
| 7 | g.41964825G>C | CA367315445 | GLI3 | c.4248C>G (p.Cys1416Trp) c.4074C>G (p.Cys1358Trp) n.4225C>G c.4071C>G (p.Cys1357Trp) c.4245C>G (p.Cys1415Trp) | |
| 7 | g.41964825G>T | CA367315446 | GLI3 | c.4248C>A (p.Cys1416Ter) c.4074C>A (p.Cys1358Ter) n.4225C>A c.4071C>A (p.Cys1357Ter) c.4245C>A (p.Cys1415Ter) | COSMIC |
| 7 | g.41964826C>A | CA4230165 | GLI3 | c.4247G>T (p.Cys1416Phe) c.4073G>T (p.Cys1358Phe) n.4224G>T c.4070G>T (p.Cys1357Phe) c.4244G>T (p.Cys1415Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41964826C= | CA1702660445 | GLI3 | c.4247G= (p.Cys1416=) c.4073G= (p.Cys1358=) n.4224G= c.4070G= (p.Cys1357=) c.4244G= (p.Cys1415=) | |
| 7 | g.41964826C>G | CA367315447 | GLI3 | c.4247G>C (p.Cys1416Ser) c.4073G>C (p.Cys1358Ser) n.4224G>C c.4070G>C (p.Cys1357Ser) c.4244G>C (p.Cys1415Ser) | gnomAD v4 |
| 7 | g.41964826C>T | CA367315448 | GLI3 | c.4247G>A (p.Cys1416Tyr) c.4073G>A (p.Cys1358Tyr) n.4224G>A c.4070G>A (p.Cys1357Tyr) c.4244G>A (p.Cys1415Tyr) | |
| 7 | g.41964827A= | CA1702660446 | GLI3 | c.4246T= (p.Cys1416=) c.4072T= (p.Cys1358=) n.4223T= c.4069T= (p.Cys1357=) c.4243T= (p.Cys1415=) | |
| 7 | g.41964827A>C | CA367315449 | GLI3 | c.4246T>G (p.Cys1416Gly) c.4072T>G (p.Cys1358Gly) n.4223T>G c.4069T>G (p.Cys1357Gly) c.4243T>G (p.Cys1415Gly) | |
| 7 | g.41964827A>G | CA367315450 | GLI3 | c.4246T>C (p.Cys1416Arg) c.4072T>C (p.Cys1358Arg) n.4223T>C c.4069T>C (p.Cys1357Arg) c.4243T>C (p.Cys1415Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41964827A>T | CA367315451 | GLI3 | c.4246T>A (p.Cys1416Ser) c.4072T>A (p.Cys1358Ser) n.4223T>A c.4069T>A (p.Cys1357Ser) c.4243T>A (p.Cys1415Ser) | |
| 7 | g.41964828G>A | CA4230166 | GLI3 | c.4245C>T (p.Thr1415=) c.4071C>T (p.Thr1357=) n.4222C>T c.4068C>T (p.Thr1356=) c.4242C>T (p.Thr1414=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41964828G>C | CA454662158 | GLI3 | c.4245C>G (p.Thr1415=) c.4071C>G (p.Thr1357=) n.4222C>G c.4068C>G (p.Thr1356=) c.4242C>G (p.Thr1414=) | dbSNP |
| 7 | g.41964828G= | CA1702660447 | GLI3 | c.4245C= (p.Thr1415=) c.4071C= (p.Thr1357=) n.4222C= c.4068C= (p.Thr1356=) c.4242C= (p.Thr1414=) | |
| 7 | g.41964828G>T | CA454662159 | GLI3 | c.4245C>A (p.Thr1415=) c.4071C>A (p.Thr1357=) n.4222C>A c.4068C>A (p.Thr1356=) c.4242C>A (p.Thr1414=) | |
| 7 | g.41964829G>A | CA367315452 | GLI3 | c.4244C>T (p.Thr1415Ile) c.4070C>T (p.Thr1357Ile) n.4221C>T c.4067C>T (p.Thr1356Ile) c.4241C>T (p.Thr1414Ile) | |
| 7 | g.41964829G>C | CA367315453 | GLI3 | c.4244C>G (p.Thr1415Ser) c.4070C>G (p.Thr1357Ser) n.4221C>G c.4067C>G (p.Thr1356Ser) c.4241C>G (p.Thr1414Ser) | |
| 7 | g.41964829G>T | CA367315454 | GLI3 | c.4244C>A (p.Thr1415Asn) c.4070C>A (p.Thr1357Asn) n.4221C>A c.4067C>A (p.Thr1356Asn) c.4241C>A (p.Thr1414Asn) | |
| 7 | g.41964830T>A | CA367315456 | GLI3 | c.4243A>T (p.Thr1415Ser) c.4069A>T (p.Thr1357Ser) n.4220A>T c.4066A>T (p.Thr1356Ser) c.4240A>T (p.Thr1414Ser) | |
| 7 | g.41964830T>C | CA367315457 | GLI3 | c.4243A>G (p.Thr1415Ala) c.4069A>G (p.Thr1357Ala) n.4220A>G c.4066A>G (p.Thr1356Ala) c.4240A>G (p.Thr1414Ala) | |
| 7 | g.41964830T>G | CA367315455 | GLI3 | c.4243A>C (p.Thr1415Pro) c.4069A>C (p.Thr1357Pro) n.4220A>C c.4066A>C (p.Thr1356Pro) c.4240A>C (p.Thr1414Pro) | |
| 7 | g.41964831C>A | CA367315459 | GLI3 | c.4242G>T (p.Gln1414His) c.4068G>T (p.Gln1356His) n.4219G>T c.4065G>T (p.Gln1355His) c.4239G>T (p.Gln1413His) | |
| 7 | g.41964831C>G | CA367315458 | GLI3 | c.4242G>C (p.Gln1414His) c.4068G>C (p.Gln1356His) n.4219G>C c.4065G>C (p.Gln1355His) c.4239G>C (p.Gln1413His) | |
| 7 | g.41964831C>T | CA454662164 | GLI3 | c.4242G>A (p.Gln1414=) c.4068G>A (p.Gln1356=) n.4219G>A c.4065G>A (p.Gln1355=) c.4239G>A (p.Gln1413=) | |
| 7 | g.41964832T>A | CA367315462 | GLI3 | c.4241A>T (p.Gln1414Leu) c.4067A>T (p.Gln1356Leu) n.4218A>T c.4064A>T (p.Gln1355Leu) c.4238A>T (p.Gln1413Leu) | |
| 7 | g.41964832T>C | CA367315460 | GLI3 | c.4241A>G (p.Gln1414Arg) c.4067A>G (p.Gln1356Arg) n.4218A>G c.4064A>G (p.Gln1355Arg) c.4238A>G (p.Gln1413Arg) | |
| 7 | g.41964832T>G | CA367315461 | GLI3 | c.4241A>C (p.Gln1414Pro) c.4067A>C (p.Gln1356Pro) n.4218A>C c.4064A>C (p.Gln1355Pro) c.4238A>C (p.Gln1413Pro) | |
| 7 | g.41964833G>A | CA367315463 | GLI3 | c.4240C>T (p.Gln1414Ter) c.4066C>T (p.Gln1356Ter) n.4217C>T c.4063C>T (p.Gln1355Ter) c.4237C>T (p.Gln1413Ter) | |
| 7 | g.41964833G>C | CA367315464 | GLI3 | c.4240C>G (p.Gln1414Glu) c.4066C>G (p.Gln1356Glu) n.4217C>G c.4063C>G (p.Gln1355Glu) c.4237C>G (p.Gln1413Glu) | |
| 7 | g.41964833G>T | CA367315465 | GLI3 | c.4240C>A (p.Gln1414Lys) c.4066C>A (p.Gln1356Lys) n.4217C>A c.4063C>A (p.Gln1355Lys) c.4237C>A (p.Gln1413Lys) |