| 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.41964724A= | CA1702660404 | GLI3 | c.4349T= (p.Phe1450=) c.4175T= (p.Phe1392=) n.4326T= c.4172T= (p.Phe1391=) c.4346T= (p.Phe1449=) | |
| 7 | g.41964724A>C | CA10604067 | GLI3 | c.4349T>G (p.Phe1450Cys) c.4175T>G (p.Phe1392Cys) n.4326T>G c.4172T>G (p.Phe1391Cys) c.4346T>G (p.Phe1449Cys) | ClinVar dbSNP |
| 7 | g.41964724A>G | CA367315217 | GLI3 | c.4349T>C (p.Phe1450Ser) c.4175T>C (p.Phe1392Ser) n.4326T>C c.4172T>C (p.Phe1391Ser) c.4346T>C (p.Phe1449Ser) | |
| 7 | g.41964724A>T | CA367315218 | GLI3 | c.4349T>A (p.Phe1450Tyr) c.4175T>A (p.Phe1392Tyr) n.4326T>A c.4172T>A (p.Phe1391Tyr) c.4346T>A (p.Phe1449Tyr) | |
| 7 | g.41964725A>C | CA367315220 | GLI3 | c.4348T>G (p.Phe1450Val) c.4174T>G (p.Phe1392Val) n.4325T>G c.4171T>G (p.Phe1391Val) c.4345T>G (p.Phe1449Val) | |
| 7 | g.41964725A>G | CA367315221 | GLI3 | c.4348T>C (p.Phe1450Leu) c.4174T>C (p.Phe1392Leu) n.4325T>C c.4171T>C (p.Phe1391Leu) c.4345T>C (p.Phe1449Leu) | COSMIC |
| 7 | g.41964725A>T | CA367315219 | GLI3 | c.4348T>A (p.Phe1450Ile) c.4174T>A (p.Phe1392Ile) n.4325T>A c.4171T>A (p.Phe1391Ile) c.4345T>A (p.Phe1449Ile) | |
| 7 | g.41964726G>A | CA454657441 | GLI3 | c.4347C>T (p.Gly1449=) c.4173C>T (p.Gly1391=) n.4324C>T c.4170C>T (p.Gly1390=) c.4344C>T (p.Gly1448=) | dbSNP |
| 7 | g.41964726G>C | CA454657440 | GLI3 | c.4347C>G (p.Gly1449=) c.4173C>G (p.Gly1391=) n.4324C>G c.4170C>G (p.Gly1390=) c.4344C>G (p.Gly1448=) | gnomAD v4 |
| 7 | g.41964726G>T | CA454657439 | GLI3 | c.4347C>A (p.Gly1449=) c.4173C>A (p.Gly1391=) n.4324C>A c.4170C>A (p.Gly1390=) c.4344C>A (p.Gly1448=) | |
| 7 | g.41964727C>A | CA367315223 | GLI3 | c.4346G>T (p.Gly1449Val) c.4172G>T (p.Gly1391Val) n.4323G>T c.4169G>T (p.Gly1390Val) c.4343G>T (p.Gly1448Val) | |
| 7 | g.41964727C= | CA1702660405 | GLI3 | c.4346G= (p.Gly1449=) c.4172G= (p.Gly1391=) n.4323G= c.4169G= (p.Gly1390=) c.4343G= (p.Gly1448=) | |
| 7 | g.41964727C>G | CA367315222 | GLI3 | c.4346G>C (p.Gly1449Ala) c.4172G>C (p.Gly1391Ala) n.4323G>C c.4169G>C (p.Gly1390Ala) c.4343G>C (p.Gly1448Ala) | |
| 7 | g.41964727C>T | CA367315224 | GLI3 | c.4346G>A (p.Gly1449Asp) c.4172G>A (p.Gly1391Asp) n.4323G>A c.4169G>A (p.Gly1390Asp) c.4343G>A (p.Gly1448Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41964729del | CA2573142118 | GLI3 | c.4346del (p.Gly1449AlafsTer?) c.4172del (p.Gly1391AlafsTer?) n.4323del c.4169del (p.Gly1390AlafsTer?) c.4343del (p.Gly1448AlafsTer?) | ClinVar dbSNP |
| 7 | g.41964728C>A | CA367315225 | GLI3 | c.4345G>T (p.Gly1449Cys) c.4171G>T (p.Gly1391Cys) n.4322G>T c.4168G>T (p.Gly1390Cys) c.4342G>T (p.Gly1448Cys) | |
| 7 | g.41964728C>G | CA367315227 | GLI3 | c.4345G>C (p.Gly1449Arg) c.4171G>C (p.Gly1391Arg) n.4322G>C c.4168G>C (p.Gly1390Arg) c.4342G>C (p.Gly1448Arg) | |
| 7 | g.41964728C>T | CA367315226 | GLI3 | c.4345G>A (p.Gly1449Ser) c.4171G>A (p.Gly1391Ser) n.4322G>A c.4168G>A (p.Gly1390Ser) c.4342G>A (p.Gly1448Ser) | |
| 7 | g.41964729C>A | CA454657444 | GLI3 | c.4344G>T (p.Val1448=) c.4170G>T (p.Val1390=) n.4321G>T c.4167G>T (p.Val1389=) c.4341G>T (p.Val1447=) | |
| 7 | g.41964729C>G | CA454657443 | GLI3 | c.4344G>C (p.Val1448=) c.4170G>C (p.Val1390=) n.4321G>C c.4167G>C (p.Val1389=) c.4341G>C (p.Val1447=) | |
| 7 | g.41964729C>T | CA454657442 | GLI3 | c.4344G>A (p.Val1448=) c.4170G>A (p.Val1390=) n.4321G>A c.4167G>A (p.Val1389=) c.4341G>A (p.Val1447=) | |
| 7 | g.41964730A>C | CA367315228 | GLI3 | c.4343T>G (p.Val1448Gly) c.4169T>G (p.Val1390Gly) n.4320T>G c.4166T>G (p.Val1389Gly) c.4340T>G (p.Val1447Gly) | |
| 7 | g.41964730A>G | CA367315229 | GLI3 | c.4343T>C (p.Val1448Ala) c.4169T>C (p.Val1390Ala) n.4320T>C c.4166T>C (p.Val1389Ala) c.4340T>C (p.Val1447Ala) | |
| 7 | g.41964730A>T | CA367315230 | GLI3 | c.4343T>A (p.Val1448Glu) c.4169T>A (p.Val1390Glu) n.4320T>A c.4166T>A (p.Val1389Glu) c.4340T>A (p.Val1447Glu) | COSMIC |
| 7 | g.41964731C>A | CA367315231 | GLI3 | c.4342G>T (p.Val1448Leu) c.4168G>T (p.Val1390Leu) n.4319G>T c.4165G>T (p.Val1389Leu) c.4339G>T (p.Val1447Leu) | |
| 7 | g.41964731C= | CA1702660406 | GLI3 | c.4342G= (p.Val1448=) c.4168G= (p.Val1390=) n.4319G= c.4165G= (p.Val1389=) c.4339G= (p.Val1447=) | |
| 7 | g.41964731C>G | CA367315232 | GLI3 | c.4342G>C (p.Val1448Leu) c.4168G>C (p.Val1390Leu) n.4319G>C c.4165G>C (p.Val1389Leu) c.4339G>C (p.Val1447Leu) | gnomAD v4 |
| 7 | g.41964731C>T | CA4230149 | GLI3 | c.4342G>A (p.Val1448Met) c.4168G>A (p.Val1390Met) n.4319G>A c.4165G>A (p.Val1389Met) c.4339G>A (p.Val1447Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41964732G>A | CA156902216 | GLI3 | c.4341C>T (p.Thr1447=) c.4167C>T (p.Thr1389=) n.4318C>T c.4164C>T (p.Thr1388=) c.4338C>T (p.Thr1446=) | dbSNP |
| 7 | g.41964732G>C | CA454657445 | GLI3 | c.4341C>G (p.Thr1447=) c.4167C>G (p.Thr1389=) n.4318C>G c.4164C>G (p.Thr1388=) c.4338C>G (p.Thr1446=) | |
| 7 | g.41964732G= | CA1702660407 | GLI3 | c.4341C= (p.Thr1447=) c.4167C= (p.Thr1389=) n.4318C= c.4164C= (p.Thr1388=) c.4338C= (p.Thr1446=) | |
| 7 | g.41964732G>T | CA156902219 | GLI3 | c.4341C>A (p.Thr1447=) c.4167C>A (p.Thr1389=) n.4318C>A c.4164C>A (p.Thr1388=) c.4338C>A (p.Thr1446=) | 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 |