| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.147413372C>A | CA354898395 | ZIC1 | c.1165C>A (p.Gln389Lys) n.521+19430C>A c.231C>A | |
| 3 | g.147413372C= | CA1409289672 | ZIC1 | c.1165C= (p.Gln389=) n.521+19430C= c.231C= | |
| 3 | g.147413372C>G | CA354898396 | ZIC1 | c.1165C>G (p.Gln389Glu) n.521+19430C>G c.231C>G | |
| 3 | g.147413372C>T | CA16042224 | ZIC1 | c.1165C>T (p.Gln389Ter) n.521+19430C>T c.231C>T | ClinVar dbSNP |
| 3 | g.147413373A>C | CA354898397 | ZIC1 | c.1166A>C (p.Gln389Pro) n.521+19431A>C c.232A>C | |
| 3 | g.147413373A>G | CA354898398 | ZIC1 | c.1166A>G (p.Gln389Arg) n.521+19431A>G c.232A>G | |
| 3 | g.147413373A>T | CA354898399 | ZIC1 | c.1166A>T (p.Gln389Leu) n.521+19431A>T c.232A>T | |
| 3 | g.147413374G>A | CA436192584 | ZIC1 | c.1167G>A (p.Gln389=) n.521+19432G>A c.233G>A | |
| 3 | g.147413374G>C | CA354898400 | ZIC1 | c.1167G>C (p.Gln389His) n.521+19432G>C c.233G>C | |
| 3 | g.147413374G>T | CA354898401 | ZIC1 | c.1167G>T (p.Gln389His) n.521+19432G>T c.233G>T | COSMIC |
| 3 | g.147413375G>A | CA354898402 | ZIC1 | c.1168G>A (p.Gly390Ser) n.521+19433G>A c.234G>A | |
| 3 | g.147413375G>C | CA354898403 | ZIC1 | c.1168G>C (p.Gly390Arg) n.521+19433G>C c.234G>C | |
| 3 | g.147413375G>T | CA354898404 | ZIC1 | c.1168G>T (p.Gly390Cys) n.521+19433G>T c.234G>T | |
| 3 | g.147413376G>A | CA354898405 | ZIC1 | c.1169G>A (p.Gly390Asp) n.521+19434G>A c.235G>A | |
| 3 | g.147413376G>C | CA354898406 | ZIC1 | c.1169G>C (p.Gly390Ala) n.521+19434G>C c.235G>C | |
| 3 | g.147413376G>T | CA354898407 | ZIC1 | c.1169G>T (p.Gly390Val) n.521+19434G>T c.235G>T | |
| 3 | g.147413377C>A | CA2657212 | ZIC1 | c.1170C>A (p.Gly390=) n.521+19435C>A c.236C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.147413377C= | CA1409289673 | ZIC1 | c.1170C= (p.Gly390=) n.521+19435C= c.236C= | |
| 3 | g.147413377C>G | CA436192585 | ZIC1 | c.1170C>G (p.Gly390=) n.521+19435C>G c.236C>G | gnomAD v4 |
| 3 | g.147413377C>T | CA84582456 | ZIC1 | c.1170C>T (p.Gly390=) n.521+19435C>T c.236C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.147413378T>A | CA354898408 | ZIC1 | c.1171T>A (p.Ser391Thr) n.521+19436T>A c.237T>A | |
| 3 | g.147413378T>C | CA354898409 | ZIC1 | c.1171T>C (p.Ser391Pro) n.521+19436T>C c.237T>C | |
| 3 | g.147413378T>G | CA354898410 | ZIC1 | c.1171T>G (p.Ser391Ala) n.521+19436T>G c.237T>G | |
| 3 | g.147413379C>A | CA354898413 | ZIC1 | c.1172C>A (p.Ser391Ter) n.521+19437C>A c.238C>A | |
| 3 | g.147413379C>G | CA354898412 | ZIC1 | c.1172C>G (p.Ser391Trp) n.521+19437C>G c.238C>G | gnomAD v4 |
| 3 | g.147413379C>T | CA354898411 | ZIC1 | c.1172C>T (p.Ser391Leu) n.521+19437C>T c.238C>T | |
| 3 | g.147413380G>A | CA84582463 | ZIC1 | c.1173G>A (p.Ser391=) n.521+19438G>A c.239G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.147413380G>C | CA436193064 | ZIC1 | c.1173G>C (p.Ser391=) n.521+19438G>C c.239G>C | |
| 3 | g.147413380G= | CA1409289674 | ZIC1 | c.1173G= (p.Ser391=) n.521+19438G= c.239G= | |
| 3 | g.147413380G>T | CA436193066 | ZIC1 | c.1173G>T (p.Ser391=) n.521+19438G>T c.239G>T | |
| 3 | g.147413381C>A | CA354898414 | ZIC1 | c.1174C>A (p.Gln392Lys) n.521+19439C>A c.240C>A | gnomAD v4 |
| 3 | g.147413381C>G | CA354898415 | ZIC1 | c.1174C>G (p.Gln392Glu) n.521+19439C>G c.240C>G | |
| 3 | g.147413381C>T | CA354898416 | ZIC1 | c.1174C>T (p.Gln392Ter) n.521+19439C>T c.240C>T | ClinVar |
| 3 | g.147413382A>C | CA354898417 | ZIC1 | c.1175A>C (p.Gln392Pro) n.521+19440A>C c.241A>C | |
| 3 | g.147413382A>G | CA354898418 | ZIC1 | c.1175A>G (p.Gln392Arg) n.521+19440A>G c.241A>G | |
| 3 | g.147413382A>T | CA354898419 | ZIC1 | c.1175A>T (p.Gln392Leu) n.521+19440A>T c.241A>T | |
| 3 | g.147413383G>A | CA2657213 | ZIC1 | c.1176G>A (p.Gln392=) n.521+19441G>A c.242G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.147413383G>C | CA354898420 | ZIC1 | c.1176G>C (p.Gln392His) n.521+19441G>C c.242G>C | |
| 3 | g.147413383G= | CA1409289675 | ZIC1 | c.1176G= (p.Gln392=) n.521+19441G= c.242G= | |
| 3 | g.147413383G>T | CA354898421 | ZIC1 | c.1176G>T (p.Gln392His) n.521+19441G>T c.242G>T | |
| 3 | g.147413384C>A | CA354898422 | ZIC1 | c.1177C>A (p.Pro393Thr) n.521+19442C>A c.243C>A | |
| 3 | g.147413384C= | CA1409289676 | ZIC1 | c.1177C= (p.Pro393=) n.521+19442C= c.243C= | |
| 3 | g.147413384C>G | CA354898423 | ZIC1 | c.1177C>G (p.Pro393Ala) n.521+19442C>G c.243C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.147413384C>T | CA354898424 | ZIC1 | c.1177C>T (p.Pro393Ser) n.521+19442C>T c.243C>T | |
| 3 | g.147413385C>A | CA354898426 | ZIC1 | c.1178C>A (p.Pro393His) n.521+19443C>A c.244C>A | dbSNP |
| 3 | g.147413385C= | CA1409289677 | ZIC1 | c.1178C= (p.Pro393=) n.521+19443C= c.244C= | |
| 3 | g.147413385C>G | CA354898427 | ZIC1 | c.1178C>G (p.Pro393Arg) n.521+19443C>G c.244C>G | |
| 3 | g.147413385C>T | CA354898425 | ZIC1 | c.1178C>T (p.Pro393Leu) n.521+19443C>T c.244C>T | |
| 3 | g.147413386T>A | CA436193097 | ZIC1 | c.1179T>A (p.Pro393=) n.521+19444T>A c.245T>A | |
| 3 | g.147413386T>C | CA436193095 | ZIC1 | c.1179T>C (p.Pro393=) n.521+19444T>C c.245T>C |