Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
3 | g.147413386T>G | CA436193093 | ZIC1 | c.1179T>G (p.Pro393=) n.521+19444T>G c.245T>G | |
3 | g.147413387T>A | CA354898428 | ZIC1 | c.1180T>A (p.Ser394Thr) n.521+19445T>A c.246T>A | |
3 | g.147413387T>C | CA354898429 | ZIC1 | c.1180T>C (p.Ser394Pro) n.521+19445T>C c.246T>C | |
3 | g.147413387T>G | CA354898430 | ZIC1 | c.1180T>G (p.Ser394Ala) n.521+19445T>G c.246T>G | |
3 | g.147413388C>A | CA354898431 | ZIC1 | c.1181C>A (p.Ser394Ter) n.521+19446C>A c.247C>A | |
3 | g.147413388C>G | CA354898432 | ZIC1 | c.1181C>G (p.Ser394Trp) n.521+19446C>G c.247C>G | |
3 | g.147413388C>T | CA354898433 | ZIC1 | c.1181C>T (p.Ser394Leu) n.521+19446C>T c.247C>T | |
3 | g.147413388_147413399delinsCGCCGGCCGCCA | CA1409289678 | ZIC1 | c.1181_1192delinsCGCCGGCCGCCA (p.Ser394=) n.521+19446_521+19457delinsCGCCGGCCGCCA c.247_258delinsCGCCGGCCGCCA | |
3 | g.147413389G>A | CA436193105 | ZIC1 | c.1182G>A (p.Ser394=) n.521+19447G>A c.248G>A | gnomAD v4 |
3 | g.147413389G>C | CA436193106 | ZIC1 | c.1182G>C (p.Ser394=) n.521+19447G>C c.248G>C | |
3 | g.147413389G>T | CA436193107 | ZIC1 | c.1182G>T (p.Ser394=) n.521+19447G>T c.248G>T | gnomAD v4 |
3 | g.147413391_147413401del | CA915941608 | ZIC1 | c.1184_1194del (p.Pro395LeufsTer?) n.521+19449_521+19459del c.250_260del | ClinVar dbSNP |
3 | g.147413390C>A | CA354898434 | ZIC1 | c.1183C>A (p.Pro395Thr) n.521+19448C>A c.249C>A | |
3 | g.147413390C= | CA1409289679 | ZIC1 | c.1183C= (p.Pro395=) n.521+19448C= c.249C= | |
3 | g.147413390C>G | CA354898436 | ZIC1 | c.1183C>G (p.Pro395Ala) n.521+19448C>G c.249C>G | dbSNP |
3 | g.147413390C>T | CA354898435 | ZIC1 | c.1183C>T (p.Pro395Ser) n.521+19448C>T c.249C>T | |
3 | g.147413391C>A | CA354898437 | ZIC1 | c.1184C>A (p.Pro395Gln) n.521+19449C>A c.250C>A | |
3 | g.147413391C>G | CA354898438 | ZIC1 | c.1184C>G (p.Pro395Arg) n.521+19449C>G c.250C>G | |
3 | g.147413391C>T | CA354898439 | ZIC1 | c.1184C>T (p.Pro395Leu) n.521+19449C>T c.250C>T | |
3 | g.147413392G>A | CA2657214 | ZIC1 | c.1185G>A (p.Pro395=) n.521+19450G>A c.251G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.147413392G>C | CA436193115 | ZIC1 | c.1185G>C (p.Pro395=) n.521+19450G>C c.251G>C | |
3 | g.147413392G= | CA1409289680 | ZIC1 | c.1185G= (p.Pro395=) n.521+19450G= c.251G= | |
3 | g.147413392G>T | CA436193122 | ZIC1 | c.1185G>T (p.Pro395=) n.521+19450G>T c.251G>T | |
3 | g.147413393G>A | CA354898442 | ZIC1 | c.1186G>A (p.Ala396Thr) n.521+19451G>A c.252G>A | gnomAD v4 |
3 | g.147413393G>C | CA354898441 | ZIC1 | c.1186G>C (p.Ala396Pro) n.521+19451G>C c.252G>C | |
3 | g.147413393G>T | CA354898440 | ZIC1 | c.1186G>T (p.Ala396Ser) n.521+19451G>T c.252G>T | |
3 | g.147413394C>A | CA354898443 | ZIC1 | c.1187C>A (p.Ala396Asp) n.521+19452C>A c.253C>A | gnomAD v4 |
3 | g.147413394C= | CA1409289681 | ZIC1 | c.1187C= (p.Ala396=) n.521+19452C= c.253C= | |
3 | g.147413394C>G | CA2657215 | ZIC1 | c.1187C>G (p.Ala396Gly) n.521+19452C>G c.253C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.147413394C>T | CA354898444 | ZIC1 | c.1187C>T (p.Ala396Val) n.521+19452C>T c.253C>T | |
3 | g.147413395C>A | CA436193138 | ZIC1 | c.1188C>A (p.Ala396=) n.521+19453C>A c.254C>A | |
3 | g.147413395C>G | CA436193140 | ZIC1 | c.1188C>G (p.Ala396=) n.521+19453C>G c.254C>G | |
3 | g.147413395C>T | CA436193142 | ZIC1 | c.1188C>T (p.Ala396=) n.521+19453C>T c.254C>T |