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 |
|---|---|---|---|---|---|
| 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 | |
| 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 | |
| 3 | g.147413396G>A | CA84582525 | ZIC1 | c.1189G>A (p.Ala397Thr) n.521+19454G>A c.255G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.147413396G>C | CA354898446 | ZIC1 | c.1189G>C (p.Ala397Pro) n.521+19454G>C c.255G>C | |
| 3 | g.147413396G= | CA1409289682 | ZIC1 | c.1189G= (p.Ala397=) n.521+19454G= c.255G= | |
| 3 | g.147413396G>T | CA354898445 | ZIC1 | c.1189G>T (p.Ala397Ser) n.521+19454G>T c.255G>T | |
| 3 | g.147413397C>A | CA354898447 | ZIC1 | c.1190C>A (p.Ala397Asp) n.521+19455C>A c.256C>A | |
| 3 | g.147413397C= | CA1409289683 | ZIC1 | c.1190C= (p.Ala397=) n.521+19455C= c.256C= | |
| 3 | g.147413397C>G | CA354898449 | ZIC1 | c.1190C>G (p.Ala397Gly) n.521+19455C>G c.256C>G | |
| 3 | g.147413397C>T | CA354898448 | ZIC1 | c.1190C>T (p.Ala397Val) n.521+19455C>T c.256C>T | dbSNP |
| 3 | g.147413398C>A | CA436193156 | ZIC1 | c.1191C>A (p.Ala397=) n.521+19456C>A c.257C>A | |
| 3 | g.147413398C>G | CA436193158 | ZIC1 | c.1191C>G (p.Ala397=) n.521+19456C>G c.257C>G | |
| 3 | g.147413398C>T | CA436193160 | ZIC1 | c.1191C>T (p.Ala397=) n.521+19456C>T c.257C>T | |
| 3 | g.147413399A>C | CA354898450 | ZIC1 | c.1192A>C (p.Ser398Arg) n.521+19457A>C c.258A>C | |
| 3 | g.147413399A>G | CA354898452 | ZIC1 | c.1192A>G (p.Ser398Gly) n.521+19457A>G c.258A>G | |
| 3 | g.147413399A>T | CA354898451 | ZIC1 | c.1192A>T (p.Ser398Cys) n.521+19457A>T c.258A>T | |
| 3 | g.147413400G>A | CA354898453 | ZIC1 | c.1193G>A (p.Ser398Asn) n.521+19458G>A c.259G>A | |
| 3 | g.147413400G>C | CA354898454 | ZIC1 | c.1193G>C (p.Ser398Thr) n.521+19458G>C c.259G>C | dbSNP gnomAD v4 |
| 3 | g.147413400G= | CA1409289684 | ZIC1 | c.1193G= (p.Ser398=) n.521+19458G= c.259G= | |
| 3 | g.147413400G>T | CA354898455 | ZIC1 | c.1193G>T (p.Ser398Ile) n.521+19458G>T c.259G>T | |
| 3 | g.147413401C>A | CA354898456 | ZIC1 | c.1194C>A (p.Ser398Arg) n.521+19459C>A c.260C>A | |
| 3 | g.147413401C= | CA1409289685 | ZIC1 | c.1194C= (p.Ser398=) n.521+19459C= c.260C= | |
| 3 | g.147413401C>G | CA354898457 | ZIC1 | c.1194C>G (p.Ser398Arg) n.521+19459C>G c.260C>G | |
| 3 | g.147413401C>T | CA436193175 | ZIC1 | c.1194C>T (p.Ser398=) n.521+19459C>T c.260C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.147413402T>A | CA354898458 | ZIC1 | c.1195T>A (p.Ser399Thr) n.521+19460T>A c.261T>A | |
| 3 | g.147413402T>C | CA354898459 | ZIC1 | c.1195T>C (p.Ser399Pro) n.521+19460T>C c.261T>C | |
| 3 | g.147413402T>G | CA354898460 | ZIC1 | c.1195T>G (p.Ser399Ala) n.521+19460T>G c.261T>G | |
| 3 | g.147413403C>A | CA354898461 | ZIC1 | c.1196C>A (p.Ser399Tyr) n.521+19461C>A c.262C>A | |
| 3 | g.147413403C= | CA1409289686 | ZIC1 | c.1196C= (p.Ser399=) n.521+19461C= c.262C= | |
| 3 | g.147413403C>G | CA354898462 | ZIC1 | c.1196C>G (p.Ser399Cys) n.521+19461C>G c.262C>G | COSMIC |
| 3 | g.147413403C>T | CA354898463 | ZIC1 | c.1196C>T (p.Ser399Phe) n.521+19461C>T c.262C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.147413404T>A | CA436193193 | ZIC1 | c.1197T>A (p.Ser399=) n.521+19462T>A c.263T>A | |
| 3 | g.147413404T>C | CA84582532 | ZIC1 | c.1197T>C (p.Ser399=) n.521+19462T>C c.263T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.147413404T>G | CA436193189 | ZIC1 | c.1197T>G (p.Ser399=) n.521+19462T>G c.263T>G | |
| 3 | g.147413404T= | CA1409289687 | ZIC1 | c.1197T= (p.Ser399=) n.521+19462T= c.263T= | |
| 3 | g.147413405G>A | CA354898465 | ZIC1 | c.1198G>A (p.Gly400Ser) n.521+19463G>A c.264G>A | COSMIC |
| 3 | g.147413405G>C | CA16042226 | ZIC1 | c.1198G>C (p.Gly400Arg) n.521+19463G>C c.264G>C | ClinVar dbSNP |
| 3 | g.147413405G= | CA1409289688 | ZIC1 | c.1198G= (p.Gly400=) n.521+19463G= c.264G= | |
| 3 | g.147413405G>T | CA354898464 | ZIC1 | c.1198G>T (p.Gly400Cys) n.521+19463G>T c.264G>T | |
| 3 | g.147413406G>A | CA354898466 | ZIC1 | c.1199G>A (p.Gly400Asp) n.521+19464G>A c.265G>A | ClinVar dbSNP |
| 3 | g.147413406G>C | CA354898467 | ZIC1 | c.1199G>C (p.Gly400Ala) n.521+19464G>C c.265G>C | |
| 3 | g.147413406G>T | CA354898468 | ZIC1 | c.1199G>T (p.Gly400Val) n.521+19464G>T c.265G>T | ClinVar |
| 3 | g.147413407C>A | CA436193208 | ZIC1 | c.1200C>A (p.Gly400=) n.521+19465C>A c.266C>A | |
| 3 | g.147413407C>G | CA436193209 | ZIC1 | c.1200C>G (p.Gly400=) n.521+19465C>G c.266C>G | |
| 3 | g.147413407C>T | CA436193210 | ZIC1 | c.1200C>T (p.Gly400=) n.521+19465C>T c.266C>T | gnomAD v4 |
| 3 | g.147413408T>A | CA354898469 | ZIC1 | c.1201T>A (p.Tyr401Asn) n.521+19466T>A c.267T>A | |
| 3 | g.147413408T>C | CA354898470 | ZIC1 | c.1201T>C (p.Tyr401His) n.521+19466T>C c.267T>C | |
| 3 | g.147413408T>G | CA354898471 | ZIC1 | c.1201T>G (p.Tyr401Asp) n.521+19466T>G c.267T>G | |
| 3 | g.147413409A>C | CA354898472 | ZIC1 | c.1202A>C (p.Tyr401Ser) n.521+19467A>C c.268A>C | |
| 3 | g.147413409A>G | CA354898473 | ZIC1 | c.1202A>G (p.Tyr401Cys) n.521+19467A>G c.268A>G | |
| 3 | g.147413409A>T | CA354898474 | ZIC1 | c.1202A>T (p.Tyr401Phe) n.521+19467A>T c.268A>T | |
| 3 | g.147413410C>A | CA354898475 | ZIC1 | c.1203C>A (p.Tyr401Ter) n.521+19468C>A c.269C>A | |
| 3 | g.147413410C>G | CA354898476 | ZIC1 | c.1203C>G (p.Tyr401Ter) n.521+19468C>G c.269C>G | |
| 3 | g.147413410C>T | CA436193225 | ZIC1 | c.1203C>T (p.Tyr401=) n.521+19468C>T c.269C>T | gnomAD v4 |
| 3 | g.147413411G>A | CA354898478 | ZIC1 | c.1204G>A (p.Glu402Lys) n.521+19469G>A c.270G>A | COSMIC |
| 3 | g.147413411G>C | CA354898477 | ZIC1 | c.1204G>C (p.Glu402Gln) n.521+19469G>C c.270G>C | |
| 3 | g.147413411G= | CA1409289689 | ZIC1 | c.1204G= (p.Glu402=) n.521+19469G= c.270G= | |
| 3 | g.147413411G>T | CA16042225 | ZIC1 | c.1204G>T (p.Glu402Ter) n.521+19469G>T c.270G>T | ClinVar dbSNP |
| 3 | g.147413412A>C | CA354898479 | ZIC1 | c.1205A>C (p.Glu402Ala) n.521+19470A>C c.271A>C | |
| 3 | g.147413412A>G | CA354898480 | ZIC1 | c.1205A>G (p.Glu402Gly) n.521+19470A>G c.271A>G | |
| 3 | g.147413412A>T | CA354898481 | ZIC1 | c.1205A>T (p.Glu402Val) n.521+19470A>T c.271A>T | |
| 3 | g.147413413A= | CA1409289690 | ZIC1 | c.1206A= (p.Glu402=) n.521+19471A= c.272A= | |
| 3 | g.147413413A>C | CA354898482 | ZIC1 | c.1206A>C (p.Glu402Asp) n.521+19471A>C c.272A>C | gnomAD v4 |
| 3 | g.147413413A>G | CA436193242 | ZIC1 | c.1206A>G (p.Glu402=) n.521+19471A>G c.272A>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.147413413A>T | CA354898483 | ZIC1 | c.1206A>T (p.Glu402Asp) n.521+19471A>T c.272A>T | |
| 3 | g.147413414T>A | CA354898484 | ZIC1 | c.1207T>A (p.Ser403Thr) n.521+19472T>A c.273T>A | |
| 3 | g.147413414T>C | CA354898485 | ZIC1 | c.1207T>C (p.Ser403Pro) n.521+19472T>C c.273T>C | |
| 3 | g.147413414T>G | CA354898486 | ZIC1 | c.1207T>G (p.Ser403Ala) n.521+19472T>G c.273T>G | |
| 3 | g.147413415C>A | CA354898487 | ZIC1 | c.1208C>A (p.Ser403Tyr) n.521+19473C>A c.274C>A | |
| 3 | g.147413415C>G | CA354898488 | ZIC1 | c.1208C>G (p.Ser403Cys) n.521+19473C>G c.274C>G | |
| 3 | g.147413415C>T | CA354898489 | ZIC1 | c.1208C>T (p.Ser403Phe) n.521+19473C>T c.274C>T | ClinVar |
| 3 | g.147413416C>A | CA436193259 | ZIC1 | c.1209C>A (p.Ser403=) n.521+19474C>A c.275C>A | dbSNP gnomAD v4 |
| 3 | g.147413416C= | CA1409289691 | ZIC1 | c.1209C= (p.Ser403=) n.521+19474C= c.275C= | |
| 3 | g.147413416C>G | CA436193262 | ZIC1 | c.1209C>G (p.Ser403=) n.521+19474C>G c.275C>G | |
| 3 | g.147413416C>T | CA436193264 | ZIC1 | c.1209C>T (p.Ser403=) n.521+19474C>T c.275C>T | |
| 3 | g.147413417T>A | CA354898492 | ZIC1 | c.1210T>A (p.Ser404Thr) n.521+19475T>A c.276T>A | |
| 3 | g.147413417T>C | CA354898491 | ZIC1 | c.1210T>C (p.Ser404Pro) n.521+19475T>C c.276T>C | |
| 3 | g.147413417T>G | CA354898490 | ZIC1 | c.1210T>G (p.Ser404Ala) n.521+19475T>G c.276T>G | |
| 3 | g.147413418C>A | CA354898493 | ZIC1 | c.1211C>A (p.Ser404Tyr) n.521+19476C>A c.277C>A | |
| 3 | g.147413418C>G | CA354898494 | ZIC1 | c.1211C>G (p.Ser404Cys) n.521+19476C>G c.277C>G | COSMIC |
| 3 | g.147413418C>T | CA354898495 | ZIC1 | c.1211C>T (p.Ser404Phe) n.521+19476C>T c.277C>T | |
| 3 | g.147413419C>A | CA436193284 | ZIC1 | c.1212C>A (p.Ser404=) n.521+19477C>A c.278C>A | |
| 3 | g.147413419C>G | CA436193282 | ZIC1 | c.1212C>G (p.Ser404=) n.521+19477C>G c.278C>G | |
| 3 | g.147413419C>T | CA436193281 | ZIC1 | c.1212C>T (p.Ser404=) n.521+19477C>T c.278C>T | |
| 3 | g.147413420A>C | CA354898496 | ZIC1 | c.1213A>C (p.Thr405Pro) n.521+19478A>C c.279A>C | |
| 3 | g.147413420A>G | CA354898497 | ZIC1 | c.1213A>G (p.Thr405Ala) n.521+19478A>G c.279A>G | |
| 3 | g.147413420A>T | CA354898498 | ZIC1 | c.1213A>T (p.Thr405Ser) n.521+19478A>T c.279A>T | |
| 3 | g.147413421C>A | CA354898499 | ZIC1 | c.1214C>A (p.Thr405Lys) n.521+19479C>A c.280C>A | |
| 3 | g.147413421C= | CA1409289692 | ZIC1 | c.1214C= (p.Thr405=) n.521+19479C= c.280C= | |
| 3 | g.147413421C>G | CA354898500 | ZIC1 | c.1214C>G (p.Thr405Arg) n.521+19479C>G c.280C>G | |
| 3 | g.147413421C>T | CA354898501 | ZIC1 | c.1214C>T (p.Thr405Met) n.521+19479C>T c.280C>T | |
| 3 | g.147413421_147413422insCACCATCGT | CA915941609 | ZIC1 | c.1214_1215insCACCATCGT (p.Thr405_Pro406insThrIleVal) n.521+19479_521+19480insCACCATCGT c.280_281insCACCATCGT | ClinVar dbSNP |
| 3 | g.147413421_147413422insCACCATCGTG | CA2695202085 | ZIC1 | c.1214_1215insCACCATCGTG (p.Pro406ThrfsTer?) n.521+19479_521+19480insCACCATCGTG c.280_281insCACCATCGTG | |
| 3 | g.147413422G>A | CA436193292 | ZIC1 | c.1215G>A (p.Thr405=) n.521+19480G>A c.281G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.147413422G>C | CA436193295 | ZIC1 | c.1215G>C (p.Thr405=) n.521+19480G>C c.281G>C | |
| 3 | g.147413422G= | CA1409289693 | ZIC1 | c.1215G= (p.Thr405=) n.521+19480G= c.281G= | |
| 3 | g.147413422G>T | CA436193297 | ZIC1 | c.1215G>T (p.Thr405=) n.521+19480G>T c.281G>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.147413423C>A | CA354898502 | ZIC1 | c.1216C>A (p.Pro406Thr) n.521+19481C>A c.282C>A | COSMIC |
| 3 | g.147413423C= | CA1409289694 | ZIC1 | c.1216C= (p.Pro406=) n.521+19481C= c.282C= | |
| 3 | g.147413423C>G | CA354898503 | ZIC1 | c.1216C>G (p.Pro406Ala) n.521+19481C>G c.282C>G | |
| 3 | g.147413423C>T | CA354898504 | ZIC1 | c.1216C>T (p.Pro406Ser) n.521+19481C>T c.282C>T | dbSNP gnomAD v2 |
| 3 | g.147413424C>A | CA354898507 | ZIC1 | c.1217C>A (p.Pro406His) n.521+19482C>A c.283C>A | |
| 3 | g.147413424C>G | CA354898506 | ZIC1 | c.1217C>G (p.Pro406Arg) n.521+19482C>G c.283C>G | |
| 3 | g.147413424C>T | CA354898505 | ZIC1 | c.1217C>T (p.Pro406Leu) n.521+19482C>T c.283C>T | ClinVar COSMIC |
| 3 | g.147413425T>A | CA436193304 | ZIC1 | c.1218T>A (p.Pro406=) n.521+19483T>A c.284T>A | |
| 3 | g.147413425T>C | CA436193306 | ZIC1 | c.1218T>C (p.Pro406=) n.521+19483T>C c.284T>C | |
| 3 | g.147413425T>G | CA436193309 | ZIC1 | c.1218T>G (p.Pro406=) n.521+19483T>G c.284T>G | |
| 3 | g.147413426C>A | CA354898508 | ZIC1 | c.1219C>A (p.Pro407Thr) n.521+19484C>A c.285C>A | |
| 3 | g.147413426C>G | CA354898509 | ZIC1 | c.1219C>G (p.Pro407Ala) n.521+19484C>G c.285C>G | |
| 3 | g.147413426C>T | CA354898510 | ZIC1 | c.1219C>T (p.Pro407Ser) n.521+19484C>T c.285C>T | gnomAD v4 |
| 3 | g.147413427C>A | CA354898511 | ZIC1 | c.1220C>A (p.Pro407His) n.521+19485C>A c.286C>A | |
| 3 | g.147413427C>G | CA354898512 | ZIC1 | c.1220C>G (p.Pro407Arg) n.521+19485C>G c.286C>G | |
| 3 | g.147413427C>T | CA354898513 | ZIC1 | c.1220C>T (p.Pro407Leu) n.521+19485C>T c.286C>T | |
| 3 | g.147413428C>A | CA436193318 | ZIC1 | c.1221C>A (p.Pro407=) n.521+19486C>A c.287C>A | |
| 3 | g.147413428C>G | CA436193319 | ZIC1 | c.1221C>G (p.Pro407=) n.521+19486C>G c.287C>G | |
| 3 | g.147413428C>T | CA436193320 | ZIC1 | c.1221C>T (p.Pro407=) n.521+19486C>T c.287C>T | |
| 3 | g.147413429A>C | CA354898516 | ZIC1 | c.1222A>C (p.Thr408Pro) n.521+19487A>C c.288A>C | |
| 3 | g.147413429A>G | CA354898515 | ZIC1 | c.1222A>G (p.Thr408Ala) n.521+19487A>G c.288A>G | |
| 3 | g.147413429A>T | CA354898514 | ZIC1 | c.1222A>T (p.Thr408Ser) n.521+19487A>T c.288A>T | |
| 3 | g.147413430C>A | CA354898517 | ZIC1 | c.1223C>A (p.Thr408Asn) n.521+19488C>A c.289C>A | gnomAD v4 |
| 3 | g.147413430C>G | CA354898518 | ZIC1 | c.1223C>G (p.Thr408Ser) n.521+19488C>G c.289C>G | |
| 3 | g.147413430C>T | CA354898519 | ZIC1 | c.1223C>T (p.Thr408Ile) n.521+19488C>T c.289C>T | |
| 3 | g.147413431C>A | CA436193330 | ZIC1 | c.1224C>A (p.Thr408=) n.521+19489C>A c.290C>A | |
| 3 | g.147413431C>G | CA436193332 | ZIC1 | c.1224C>G (p.Thr408=) n.521+19489C>G c.290C>G | |
| 3 | g.147413431C>T | CA436193333 | ZIC1 | c.1224C>T (p.Thr408=) n.521+19489C>T c.290C>T | |
| 3 | g.147413432A= | CA1409289695 | ZIC1 | c.1225A= (p.Ile409=) n.521+19490A= c.291A= | |
| 3 | g.147413432A>C | CA354898520 | ZIC1 | c.1225A>C (p.Ile409Leu) n.521+19490A>C c.291A>C | |
| 3 | g.147413432A>G | CA2657216 | ZIC1 | c.1225A>G (p.Ile409Val) n.521+19490A>G c.291A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.147413432A>T | CA354898521 | ZIC1 | c.1225A>T (p.Ile409Phe) n.521+19490A>T c.291A>T | |
| 3 | g.147413433T>A | CA354898522 | ZIC1 | c.1226T>A (p.Ile409Asn) n.521+19491T>A c.292T>A | |
| 3 | g.147413433T>C | CA354898524 | ZIC1 | c.1226T>C (p.Ile409Thr) n.521+19491T>C c.292T>C | |
| 3 | g.147413433T>G | CA354898523 | ZIC1 | c.1226T>G (p.Ile409Ser) n.521+19491T>G c.292T>G | |
| 3 | g.147413434C>A | CA436193352 | ZIC1 | c.1227C>A (p.Ile409=) n.521+19492C>A c.293C>A | gnomAD v4 COSMIC |
| 3 | g.147413434C= | CA1409289696 | ZIC1 | c.1227C= (p.Ile409=) n.521+19492C= c.293C= | |
| 3 | g.147413434C>G | CA2657217 | ZIC1 | c.1227C>G (p.Ile409Met) n.521+19492C>G c.293C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.147413434C>T | CA436193356 | ZIC1 | c.1227C>T (p.Ile409=) n.521+19492C>T c.293C>T | COSMIC |
| 3 | g.147413435del | CA2577930366 | ZIC1 | c.1228del (p.Val410CysfsTer?) n.521+19493del c.294del | |
| 3 | g.147413435G>A | CA84582547 | ZIC1 | c.1228G>A (p.Val410Met) n.521+19493G>A c.294G>A | dbSNP gnomAD v4 |
| 3 | g.147413435G>C | CA354898525 | ZIC1 | c.1228G>C (p.Val410Leu) n.521+19493G>C c.294G>C | gnomAD v4 |
| 3 | g.147413435G= | CA1409289697 | ZIC1 | c.1228G= (p.Val410=) n.521+19493G= c.294G= | |
| 3 | g.147413435G>T | CA354898526 | ZIC1 | c.1228G>T (p.Val410Leu) n.521+19493G>T c.294G>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.147413436T>A | CA354898527 | ZIC1 | c.1229T>A (p.Val410Glu) n.521+19494T>A c.295T>A | |
| 3 | g.147413436T>C | CA354898528 | ZIC1 | c.1229T>C (p.Val410Ala) n.521+19494T>C c.295T>C | |
| 3 | g.147413436T>G | CA354898529 | ZIC1 | c.1229T>G (p.Val410Gly) n.521+19494T>G c.295T>G | |
| 3 | g.147413437G>A | CA436193363 | ZIC1 | c.1230G>A (p.Val410=) n.521+19495G>A c.296G>A | dbSNP gnomAD v4 |
| 3 | g.147413437G>C | CA436193367 | ZIC1 | c.1230G>C (p.Val410=) n.521+19495G>C c.296G>C | |
| 3 | g.147413437G= | CA1409289698 | ZIC1 | c.1230G= (p.Val410=) n.521+19495G= c.296G= | |
| 3 | g.147413437G>T | CA2657218 | ZIC1 | c.1230G>T (p.Val410=) n.521+19495G>T c.296G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.147413438T>A | CA354898530 | ZIC1 | c.1231T>A (p.Ser411Thr) n.521+19496T>A c.297T>A | |
| 3 | g.147413438T>C | CA354898531 | ZIC1 | c.1231T>C (p.Ser411Pro) n.521+19496T>C c.297T>C | |
| 3 | g.147413438T>G | CA354898532 | ZIC1 | c.1231T>G (p.Ser411Ala) n.521+19496T>G c.297T>G | |
| 3 | g.147413439C>A | CA354898533 | ZIC1 | c.1232C>A (p.Ser411Tyr) n.521+19497C>A c.298C>A | |
| 3 | g.147413439C= | CA1409289699 | ZIC1 | c.1232C= (p.Ser411=) n.521+19497C= c.298C= | |
| 3 | g.147413439C>G | CA354898535 | ZIC1 | c.1232C>G (p.Ser411Cys) n.521+19497C>G c.298C>G | COSMIC |
| 3 | g.147413439C>T | CA354898534 | ZIC1 | c.1232C>T (p.Ser411Phe) n.521+19497C>T c.298C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.147413440T>A | CA436193385 | ZIC1 | c.1233T>A (p.Ser411=) n.521+19498T>A c.299T>A | COSMIC |
| 3 | g.147413440T>C | CA436193381 | ZIC1 | c.1233T>C (p.Ser411=) n.521+19498T>C c.299T>C | |
| 3 | g.147413440T>G | CA436193379 | ZIC1 | c.1233T>G (p.Ser411=) n.521+19498T>G c.299T>G | |
| 3 | g.147413441C>A | CA354898536 | ZIC1 | c.1234C>A (p.Pro412Thr) n.521+19499C>A c.300C>A | |
| 3 | g.147413441C= | CA1409289700 | ZIC1 | c.1234C= (p.Pro412=) n.521+19499C= c.300C= | |
| 3 | g.147413441C>G | CA354898537 | ZIC1 | c.1234C>G (p.Pro412Ala) n.521+19499C>G c.300C>G | dbSNP gnomAD v4 |
| 3 | g.147413441C>T | CA2657219 | ZIC1 | c.1234C>T (p.Pro412Ser) n.521+19499C>T c.300C>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 3 | g.147413442C>A | CA354898538 | ZIC1 | c.1235C>A (p.Pro412His) n.521+19500C>A c.301C>A | |
| 3 | g.147413442C>G | CA354898539 | ZIC1 | c.1235C>G (p.Pro412Arg) n.521+19500C>G c.301C>G | |
| 3 | g.147413442C>T | CA354898540 | ZIC1 | c.1235C>T (p.Pro412Leu) n.521+19500C>T c.301C>T | |
| 3 | g.147413443C>A | CA436193401 | ZIC1 | c.1236C>A (p.Pro412=) n.521+19501C>A c.302C>A | |
| 3 | g.147413443C= | CA1409289701 | ZIC1 | c.1236C= (p.Pro412=) n.521+19501C= c.302C= | |
| 3 | g.147413443C>G | CA436193403 | ZIC1 | c.1236C>G (p.Pro412=) n.521+19501C>G c.302C>G | |
| 3 | g.147413443C>T | CA436193406 | ZIC1 | c.1236C>T (p.Pro412=) n.521+19501C>T c.302C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.147413444T>A | CA354898541 | ZIC1 | c.1237T>A (p.Ser413Thr) n.521+19502T>A c.303T>A | |
| 3 | g.147413444T>C | CA354898542 | ZIC1 | c.1237T>C (p.Ser413Pro) n.521+19502T>C c.303T>C | |
| 3 | g.147413444T>G | CA354898543 | ZIC1 | c.1237T>G (p.Ser413Ala) n.521+19502T>G c.303T>G | |
| 3 | g.147413445C>A | CA354898544 | ZIC1 | c.1238C>A (p.Ser413Tyr) n.521+19503C>A c.304C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.147413445C= | CA1409289702 | ZIC1 | c.1238C= (p.Ser413=) n.521+19503C= c.304C= | |
| 3 | g.147413445C>G | CA354898545 | ZIC1 | c.1238C>G (p.Ser413Cys) n.521+19503C>G c.304C>G | |
| 3 | g.147413445C>T | CA354898546 | ZIC1 | c.1238C>T (p.Ser413Phe) n.521+19503C>T c.304C>T | gnomAD v4 |
| 3 | g.147413446C>A | CA436193422 | ZIC1 | c.1239C>A (p.Ser413=) n.521+19504C>A c.305C>A | |
| 3 | g.147413446C>G | CA436193424 | ZIC1 | c.1239C>G (p.Ser413=) n.521+19504C>G c.305C>G | |
| 3 | g.147413446C>T | CA436193425 | ZIC1 | c.1239C>T (p.Ser413=) n.521+19504C>T c.305C>T | |
| 3 | g.147413447A= | CA1409289703 | ZIC1 | c.1240A= (p.Thr414=) n.521+19505A= c.306A= | |
| 3 | g.147413447A>C | CA354898548 | ZIC1 | c.1240A>C (p.Thr414Pro) n.521+19505A>C c.306A>C | |
| 3 | g.147413447A>G | CA2657220 | ZIC1 | c.1240A>G (p.Thr414Ala) n.521+19505A>G c.306A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.147413447A>T | CA354898547 | ZIC1 | c.1240A>T (p.Thr414Ser) n.521+19505A>T c.306A>T | gnomAD v4 |
| 3 | g.147413448C>A | CA354898549 | ZIC1 | c.1241C>A (p.Thr414Lys) n.521+19506C>A c.307C>A | COSMIC |
| 3 | g.147413448C>G | CA354898550 | ZIC1 | c.1241C>G (p.Thr414Arg) n.521+19506C>G c.307C>G | |
| 3 | g.147413448C>T | CA354898551 | ZIC1 | c.1241C>T (p.Thr414Ile) n.521+19506C>T c.307C>T | |
| 3 | g.147413449A>C | CA436193438 | ZIC1 | c.1242A>C (p.Thr414=) n.521+19507A>C c.308A>C | |
| 3 | g.147413449A>G | CA436193439 | ZIC1 | c.1242A>G (p.Thr414=) n.521+19507A>G c.308A>G | |
| 3 | g.147413449A>T | CA436193442 | ZIC1 | c.1242A>T (p.Thr414=) n.521+19507A>T c.308A>T | |
| 3 | g.147413450G>A | CA354898552 | ZIC1 | c.1243G>A (p.Asp415Asn) n.521+19508G>A c.309G>A | |
| 3 | g.147413450G>C | CA354898553 | ZIC1 | c.1243G>C (p.Asp415His) n.521+19508G>C c.309G>C | |
| 3 | g.147413450G>T | CA354898554 | ZIC1 | c.1243G>T (p.Asp415Tyr) n.521+19508G>T c.309G>T | |
| 3 | g.147413451A>C | CA354898555 | ZIC1 | c.1244A>C (p.Asp415Ala) n.521+19509A>C c.310A>C | |
| 3 | g.147413451A>G | CA354898556 | ZIC1 | c.1244A>G (p.Asp415Gly) n.521+19509A>G c.310A>G | gnomAD v4 |
| 3 | g.147413451A>T | CA354898557 | ZIC1 | c.1244A>T (p.Asp415Val) n.521+19509A>T c.310A>T | |
| 3 | g.147413452C>A | CA354898558 | ZIC1 | c.1245C>A (p.Asp415Glu) n.521+19510C>A c.311C>A | |
| 3 | g.147413452C= | CA1409289704 | ZIC1 | c.1245C= (p.Asp415=) n.521+19510C= c.311C= | |
| 3 | g.147413452C>G | CA354898559 | ZIC1 | c.1245C>G (p.Asp415Glu) n.521+19510C>G c.311C>G | |
| 3 | g.147413452C>T | CA436193466 | ZIC1 | c.1245C>T (p.Asp415=) n.521+19510C>T c.311C>T | dbSNP gnomAD v4 |
| 3 | g.147413453A= | CA1409289705 | ZIC1 | c.1246A= (p.Asn416=) n.521+19511A= c.312A= | |
| 3 | g.147413453A>C | CA84582565 | ZIC1 | c.1246A>C (p.Asn416His) n.521+19511A>C c.312A>C | dbSNP |
| 3 | g.147413453A>G | CA354898561 | ZIC1 | c.1246A>G (p.Asn416Asp) n.521+19511A>G c.312A>G | |
| 3 | g.147413453A>T | CA354898560 | ZIC1 | c.1246A>T (p.Asn416Tyr) n.521+19511A>T c.312A>T | |
| 3 | g.147413454A>C | CA354898562 | ZIC1 | c.1247A>C (p.Asn416Thr) n.521+19512A>C c.313A>C | |
| 3 | g.147413454A>G | CA354898564 | ZIC1 | c.1247A>G (p.Asn416Ser) n.521+19512A>G c.313A>G | |
| 3 | g.147413454A>T | CA354898563 | ZIC1 | c.1247A>T (p.Asn416Ile) n.521+19512A>T c.313A>T | |
| 3 | g.147413455C>A | CA354898565 | ZIC1 | c.1248C>A (p.Asn416Lys) n.521+19513C>A c.314C>A | |
| 3 | g.147413455C>G | CA354898566 | ZIC1 | c.1248C>G (p.Asn416Lys) n.521+19513C>G c.314C>G | |
| 3 | g.147413455C>T | CA436193483 | ZIC1 | c.1248C>T (p.Asn416=) n.521+19513C>T c.314C>T | |
| 3 | g.147413456C>A | CA354898567 | ZIC1 | c.1249C>A (p.Pro417Thr) n.521+19514C>A c.315C>A | dbSNP |
| 3 | g.147413456C= | CA1409289706 | ZIC1 | c.1249C= (p.Pro417=) n.521+19514C= c.315C= | |
| 3 | g.147413456C>G | CA354898568 | ZIC1 | c.1249C>G (p.Pro417Ala) n.521+19514C>G c.315C>G | |
| 3 | g.147413456C>T | CA354898569 | ZIC1 | c.1249C>T (p.Pro417Ser) n.521+19514C>T c.315C>T | gnomAD v4 |
| 3 | g.147413457C>A | CA354898570 | ZIC1 | c.1250C>A (p.Pro417Gln) n.521+19515C>A c.316C>A | |
| 3 | g.147413457C= | CA1409289707 | ZIC1 | c.1250C= (p.Pro417=) n.521+19515C= c.316C= | |
| 3 | g.147413457C>G | CA2657221 | ZIC1 | c.1250C>G (p.Pro417Arg) n.521+19515C>G c.316C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.147413457C>T | CA354898571 | ZIC1 | c.1250C>T (p.Pro417Leu) n.521+19515C>T c.316C>T | |
| 3 | g.147413458G>A | CA84582572 | ZIC1 | c.1251G>A (p.Pro417=) n.521+19516G>A c.317G>A | dbSNP gnomAD v4 |
| 3 | g.147413458G>C | CA436193498 | ZIC1 | c.1251G>C (p.Pro417=) n.521+19516G>C c.317G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.147413458G= | CA1409289708 | ZIC1 | c.1251G= (p.Pro417=) n.521+19516G= c.317G= | |
| 3 | g.147413458G>T | CA2657222 | ZIC1 | c.1251G>T (p.Pro417=) n.521+19516G>T c.317G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.147413459A>C | CA354898572 | ZIC1 | c.1252A>C (p.Thr418Pro) n.521+19517A>C c.318A>C | |
| 3 | g.147413459A>G | CA354898573 | ZIC1 | c.1252A>G (p.Thr418Ala) n.521+19517A>G c.318A>G | |
| 3 | g.147413459A>T | CA354898574 | ZIC1 | c.1252A>T (p.Thr418Ser) n.521+19517A>T c.318A>T | |
| 3 | g.147413460C>A | CA354898575 | ZIC1 | c.1253C>A (p.Thr418Asn) n.521+19518C>A c.319C>A | |
| 3 | g.147413460C>G | CA354898576 | ZIC1 | c.1253C>G (p.Thr418Ser) n.521+19518C>G c.319C>G | gnomAD v4 |
| 3 | g.147413460C>T | CA354898577 | ZIC1 | c.1253C>T (p.Thr418Ile) n.521+19518C>T c.319C>T | |
| 3 | g.147413461C>A | CA436193516 | ZIC1 | c.1254C>A (p.Thr418=) n.521+19519C>A c.320C>A | |
| 3 | g.147413461C= | CA1409289709 | ZIC1 | c.1254C= (p.Thr418=) n.521+19519C= c.320C= | |
| 3 | g.147413461C>G | CA2657223 | ZIC1 | c.1254C>G (p.Thr418=) n.521+19519C>G c.320C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.147413461C>T | CA436193520 | ZIC1 | c.1254C>T (p.Thr418=) n.521+19519C>T c.320C>T | gnomAD v4 |
| 3 | g.147413462A>C | CA354898578 | ZIC1 | c.1255A>C (p.Thr419Pro) n.521+19520A>C c.321A>C | |
| 3 | g.147413462A>G | CA354898579 | ZIC1 | c.1255A>G (p.Thr419Ala) n.521+19520A>G c.321A>G | |
| 3 | g.147413462A>T | CA354898580 | ZIC1 | c.1255A>T (p.Thr419Ser) n.521+19520A>T c.321A>T | |
| 3 | g.147413463C>A | CA354898581 | ZIC1 | c.1256C>A (p.Thr419Lys) n.521+19521C>A c.322C>A | |
| 3 | g.147413463C>G | CA354898582 | ZIC1 | c.1256C>G (p.Thr419Arg) n.521+19521C>G c.322C>G | gnomAD v4 |
| 3 | g.147413463C>T | CA354898583 | ZIC1 | c.1256C>T (p.Thr419Ile) n.521+19521C>T c.322C>T | gnomAD v4 |
| 3 | g.147413464A= | CA1409289710 | ZIC1 | c.1257A= (p.Thr419=) n.521+19522A= c.323A= | |
| 3 | g.147413464A>C | CA436193548 | ZIC1 | c.1257A>C (p.Thr419=) n.521+19522A>C c.323A>C | dbSNP gnomAD v2 |
| 3 | g.147413464A>G | CA2657224 | ZIC1 | c.1257A>G (p.Thr419=) n.521+19522A>G c.323A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.147413464A>T | CA436193552 | ZIC1 | c.1257A>T (p.Thr419=) n.521+19522A>T c.323A>T | |
| 3 | g.147413465A>C | CA354898584 | ZIC1 | c.1258A>C (p.Ser420Arg) n.521+19523A>C c.324A>C | |
| 3 | g.147413465A>G | CA354898585 | ZIC1 | c.1258A>G (p.Ser420Gly) n.521+19523A>G c.324A>G | |
| 3 | g.147413465A>T | CA354898586 | ZIC1 | c.1258A>T (p.Ser420Cys) n.521+19523A>T c.324A>T | |
| 3 | g.147413466G>A | CA354898587 | ZIC1 | c.1259G>A (p.Ser420Asn) n.521+19524G>A c.325G>A | |
| 3 | g.147413466G>C | CA354898588 | ZIC1 | c.1259G>C (p.Ser420Thr) n.521+19524G>C c.325G>C | |
| 3 | g.147413466G>T | CA354898589 | ZIC1 | c.1259G>T (p.Ser420Ile) n.521+19524G>T c.325G>T | gnomAD v4 |
| 3 | g.147413467C>A | CA354898590 | ZIC1 | c.1260C>A (p.Ser420Arg) n.521+19525C>A c.326C>A | |
| 3 | g.147413467C>G | CA354898591 | ZIC1 | c.1260C>G (p.Ser420Arg) n.521+19525C>G c.326C>G | |
| 3 | g.147413467C>T | CA436193567 | ZIC1 | c.1260C>T (p.Ser420=) n.521+19525C>T c.326C>T | gnomAD v4 |
| 3 | g.147413468T>A | CA354898592 | ZIC1 | c.1261T>A (p.Ser421Thr) n.521+19526T>A c.327T>A | |
| 3 | g.147413468T>C | CA2657225 | ZIC1 | c.1261T>C (p.Ser421Pro) n.521+19526T>C c.327T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.147413468T>G | CA354898593 | ZIC1 | c.1261T>G (p.Ser421Ala) n.521+19526T>G c.327T>G | |
| 3 | g.147413468T= | CA1409289711 | ZIC1 | c.1261T= (p.Ser421=) n.521+19526T= c.327T= | |
| 3 | g.147413469C>A | CA354898594 | ZIC1 | c.1262C>A (p.Ser421Tyr) n.521+19527C>A c.328C>A | |
| 3 | g.147413469C= | CA1409289712 | ZIC1 | c.1262C= (p.Ser421=) n.521+19527C= c.328C= | |
| 3 | g.147413469C>G | CA2657226 | ZIC1 | c.1262C>G (p.Ser421Cys) n.521+19527C>G c.328C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.147413469C>T | CA354898595 | ZIC1 | c.1262C>T (p.Ser421Phe) n.521+19527C>T c.328C>T | |
| 3 | g.147413470C>A | CA436193579 | ZIC1 | c.1263C>A (p.Ser421=) n.521+19528C>A c.329C>A | |
| 3 | g.147413470C= | CA1409289713 | ZIC1 | c.1263C= (p.Ser421=) n.521+19528C= c.329C= | |
| 3 | g.147413470C>G | CA436193580 | ZIC1 | c.1263C>G (p.Ser421=) n.521+19528C>G c.329C>G | |
| 3 | g.147413470C>T | CA436193581 | ZIC1 | c.1263C>T (p.Ser421=) n.521+19528C>T c.329C>T | dbSNP gnomAD v4 COSMIC |
| 3 | g.147413471T>A | CA354898596 | ZIC1 | c.1264T>A (p.Leu422Ile) n.521+19529T>A c.330T>A | |
| 3 | g.147413471T>C | CA436193582 | ZIC1 | c.1264T>C (p.Leu422=) n.521+19529T>C c.330T>C | |
| 3 | g.147413471T>G | CA354898597 | ZIC1 | c.1264T>G (p.Leu422Val) n.521+19529T>G c.330T>G | |
| 3 | g.147413472T>A | CA354898598 | ZIC1 | c.1265T>A (p.Leu422Ter) n.521+19530T>A c.331T>A | |
| 3 | g.147413472T>C | CA354898599 | ZIC1 | c.1265T>C (p.Leu422Ser) n.521+19530T>C c.331T>C | |
| 3 | g.147413472T>G | CA354898600 | ZIC1 | c.1265T>G (p.Leu422Ter) n.521+19530T>G c.331T>G |