| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| 3 | g.147413473A>C | CA354898601 | ZIC1 | c.1266A>C (p.Leu422Phe) n.521+19531A>C c.332A>C | |
| 3 | g.147413473A>G | CA436193590 | ZIC1 | c.1266A>G (p.Leu422=) n.521+19531A>G c.332A>G | |
| 3 | g.147413473A>T | CA354898602 | ZIC1 | c.1266A>T (p.Leu422Phe) n.521+19531A>T c.332A>T | |
| 3 | g.147413474T>A | CA84582575 | ZIC1 | c.1267T>A (p.Ser423Thr) n.521+19532T>A c.333T>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.147413474T>C | CA354898604 | ZIC1 | c.1267T>C (p.Ser423Pro) n.521+19532T>C c.333T>C | gnomAD v4 |
| 3 | g.147413474T>G | CA354898603 | ZIC1 | c.1267T>G (p.Ser423Ala) n.521+19532T>G c.333T>G | |
| 3 | g.147413474T= | CA1409289714 | ZIC1 | c.1267T= (p.Ser423=) n.521+19532T= c.333T= | |
| 3 | g.147413475C>A | CA354898605 | ZIC1 | c.1268C>A (p.Ser423Ter) n.521+19533C>A c.334C>A | |
| 3 | g.147413475C>G | CA354898606 | ZIC1 | c.1268C>G (p.Ser423Trp) n.521+19533C>G c.334C>G | |
| 3 | g.147413475C>T | CA354898607 | ZIC1 | c.1268C>T (p.Ser423Leu) n.521+19533C>T c.334C>T | gnomAD v4 COSMIC |
| 3 | g.147413476G>A | CA2657227 | ZIC1 | c.1269G>A (p.Ser423=) n.521+19534G>A c.335G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.147413476G>C | CA436193603 | ZIC1 | c.1269G>C (p.Ser423=) n.521+19534G>C c.335G>C | |
| 3 | g.147413476G= | CA1409289715 | ZIC1 | c.1269G= (p.Ser423=) n.521+19534G= c.335G= | |
| 3 | g.147413476G>T | CA436193605 | ZIC1 | c.1269G>T (p.Ser423=) n.521+19534G>T c.335G>T | |
| 3 | g.147413477C>A | CA354898608 | ZIC1 | c.1270C>A (p.Pro424Thr) n.521+19535C>A c.336C>A | |
| 3 | g.147413477C= | CA1409289717 | ZIC1 | c.1270C= (p.Pro424=) n.521+19535C= c.336C= | |
| 3 | g.147413477C>G | CA354898609 | ZIC1 | c.1270C>G (p.Pro424Ala) n.521+19535C>G c.336C>G | |
| 3 | g.147413477C>T | CA84582577 | ZIC1 | c.1270C>T (p.Pro424Ser) n.521+19535C>T c.336C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.147413477_147413480delinsCCCT | CA1409289716 | ZIC1 | c.1270_1273delinsCCCT (p.Pro424=) n.521+19535_521+19538delinsCCCT c.336_339delinsCCCT | |
| 3 | g.147413478C>A | CA354898610 | ZIC1 | c.1271C>A (p.Pro424His) n.521+19536C>A c.337C>A | |
| 3 | g.147413478C= | CA1409289718 | ZIC1 | c.1271C= (p.Pro424=) n.521+19536C= c.337C= | |
| 3 | g.147413478C>G | CA354898611 | ZIC1 | c.1271C>G (p.Pro424Arg) n.521+19536C>G c.337C>G | |
| 3 | g.147413478C>T | CA354898612 | ZIC1 | c.1271C>T (p.Pro424Leu) n.521+19536C>T c.337C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.147413486_147413488dup | CA2668109540 | ZIC1 | c.1279_1281dup (p.Ser427_Ala428insSer) n.521+19544_521+19546dup c.345_347dup | gnomAD v4 |
| 3 | g.147413486_147413488del | CA2657228 | ZIC1 | c.1279_1281del (p.Ser427del) n.521+19544_521+19546del c.345_347del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.147413479C>A | CA84582594 | ZIC1 | c.1272C>A (p.Pro424=) n.521+19537C>A c.338C>A | dbSNP gnomAD v4 |
| 3 | g.147413479C= | CA1409289719 | ZIC1 | c.1272C= (p.Pro424=) n.521+19537C= c.338C= | |
| 3 | g.147413479C>G | CA436193626 | ZIC1 | c.1272C>G (p.Pro424=) n.521+19537C>G c.338C>G | dbSNP gnomAD v4 |
| 3 | g.147413479C>T | CA2657229 | ZIC1 | c.1272C>T (p.Pro424=) n.521+19537C>T c.338C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.147413480T>A | CA354898613 | ZIC1 | c.1273T>A (p.Ser425Thr) n.521+19538T>A c.339T>A | |
| 3 | g.147413480T>C | CA84582600 | ZIC1 | c.1273T>C (p.Ser425Pro) n.521+19538T>C c.339T>C | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.147413480T>G | CA354898614 | ZIC1 | c.1273T>G (p.Ser425Ala) n.521+19538T>G c.339T>G | gnomAD v4 |
| 3 | g.147413480T= | CA1409289720 | ZIC1 | c.1273T= (p.Ser425=) n.521+19538T= c.339T= | |
| 3 | g.147413481C>A | CA354898615 | ZIC1 | c.1274C>A (p.Ser425Tyr) n.521+19539C>A c.340C>A | COSMIC |
| 3 | g.147413481C= | CA1409289721 | ZIC1 | c.1274C= (p.Ser425=) n.521+19539C= c.340C= | |
| 3 | g.147413481C>G | CA354898616 | ZIC1 | c.1274C>G (p.Ser425Cys) n.521+19539C>G c.340C>G | dbSNP gnomAD v4 |
| 3 | g.147413481C>T | CA354898617 | ZIC1 | c.1274C>T (p.Ser425Phe) n.521+19539C>T c.340C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.147413482C>A | CA436193643 | ZIC1 | c.1275C>A (p.Ser425=) n.521+19540C>A c.341C>A | COSMIC |
| 3 | g.147413482C= | CA1409289722 | ZIC1 | c.1275C= (p.Ser425=) n.521+19540C= c.341C= | |
| 3 | g.147413482C>G | CA2657230 | ZIC1 | c.1275C>G (p.Ser425=) n.521+19540C>G c.341C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.147413482C>T | CA2657231 | ZIC1 | c.1275C>T (p.Ser425=) n.521+19540C>T c.341C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.147413483T>A | CA354898618 | ZIC1 | c.1276T>A (p.Ser426Thr) n.521+19541T>A c.342T>A | |
| 3 | g.147413483T>C | CA354898619 | ZIC1 | c.1276T>C (p.Ser426Pro) n.521+19541T>C c.342T>C | |
| 3 | g.147413483T>G | CA354898620 | ZIC1 | c.1276T>G (p.Ser426Ala) n.521+19541T>G c.342T>G | |
| 3 | g.147413484C>A | CA354898621 | ZIC1 | c.1277C>A (p.Ser426Tyr) n.521+19542C>A c.343C>A | |
| 3 | g.147413484C= | CA1409289723 | ZIC1 | c.1277C= (p.Ser426=) n.521+19542C= c.343C= | |
| 3 | g.147413484C>G | CA354898622 | ZIC1 | c.1277C>G (p.Ser426Cys) n.521+19542C>G c.343C>G | |
| 3 | g.147413484C>T | CA354898623 | ZIC1 | c.1277C>T (p.Ser426Phe) n.521+19542C>T c.343C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.147413485C>A | CA436193658 | ZIC1 | c.1278C>A (p.Ser426=) n.521+19543C>A c.344C>A | |
| 3 | g.147413485C= | CA1409289724 | ZIC1 | c.1278C= (p.Ser426=) n.521+19543C= c.344C= | |
| 3 | g.147413485C>G | CA436193660 | ZIC1 | c.1278C>G (p.Ser426=) n.521+19543C>G c.344C>G | |
| 3 | g.147413485C>T | CA436193662 | ZIC1 | c.1278C>T (p.Ser426=) n.521+19543C>T c.344C>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.147413486T>A | CA354898626 | ZIC1 | c.1279T>A (p.Ser427Thr) n.521+19544T>A c.345T>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.147413486T>C | CA354898625 | ZIC1 | c.1279T>C (p.Ser427Pro) n.521+19544T>C c.345T>C | |
| 3 | g.147413486T>G | CA354898624 | ZIC1 | c.1279T>G (p.Ser427Ala) n.521+19544T>G c.345T>G | |
| 3 | g.147413486T= | CA1409289725 | ZIC1 | c.1279T= (p.Ser427=) n.521+19544T= c.345T= | |
| 3 | g.147413487C>A | CA2657232 | ZIC1 | c.1280C>A (p.Ser427Tyr) n.521+19545C>A c.346C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.147413487C= | CA1409289726 | ZIC1 | c.1280C= (p.Ser427=) n.521+19545C= c.346C= | |
| 3 | g.147413487C>G | CA354898627 | ZIC1 | c.1280C>G (p.Ser427Cys) n.521+19545C>G c.346C>G | |
| 3 | g.147413487C>T | CA354898628 | ZIC1 | c.1280C>T (p.Ser427Phe) n.521+19545C>T c.346C>T | COSMIC |
| 3 | g.147413488C>A | CA436193670 | ZIC1 | c.1281C>A (p.Ser427=) n.521+19546C>A c.347C>A | |
| 3 | g.147413488C= | CA1409289727 | ZIC1 | c.1281C= (p.Ser427=) n.521+19546C= c.347C= | |
| 3 | g.147413488C>G | CA436193673 | ZIC1 | c.1281C>G (p.Ser427=) n.521+19546C>G c.347C>G | |
| 3 | g.147413488C>T | CA436193676 | ZIC1 | c.1281C>T (p.Ser427=) n.521+19546C>T c.347C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.147413489G>A | CA84582608 | ZIC1 | c.1282G>A (p.Ala428Thr) n.521+19547G>A c.348G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.147413489G>C | CA354898629 | ZIC1 | c.1282G>C (p.Ala428Pro) n.521+19547G>C c.348G>C | gnomAD v4 |
| 3 | g.147413489G= | CA1409289728 | ZIC1 | c.1282G= (p.Ala428=) n.521+19547G= c.348G= | |
| 3 | g.147413489G>T | CA354898630 | ZIC1 | c.1282G>T (p.Ala428Ser) n.521+19547G>T c.348G>T | gnomAD v4 |
| 3 | g.147413490C>A | CA354898631 | ZIC1 | c.1283C>A (p.Ala428Glu) n.521+19548C>A c.349C>A | |
| 3 | g.147413490C>G | CA354898632 | ZIC1 | c.1283C>G (p.Ala428Gly) n.521+19548C>G c.349C>G | |
| 3 | g.147413490C>T | CA354898633 | ZIC1 | c.1283C>T (p.Ala428Val) n.521+19548C>T c.349C>T | |
| 3 | g.147413491A= | CA1409289729 | ZIC1 | c.1284A= (p.Ala428=) n.521+19549A= c.350A= | |
| 3 | g.147413491A>C | CA436193690 | ZIC1 | c.1284A>C (p.Ala428=) n.521+19549A>C c.350A>C | |
| 3 | g.147413491A>G | CA436193693 | ZIC1 | c.1284A>G (p.Ala428=) n.521+19549A>G c.350A>G | |
| 3 | g.147413491A>T | CA436193696 | ZIC1 | c.1284A>T (p.Ala428=) n.521+19549A>T c.350A>T | dbSNP gnomAD v4 |
| 3 | g.147413492G>A | CA354898634 | ZIC1 | c.1285G>A (p.Val429Ile) n.521+19550G>A c.351G>A | dbSNP gnomAD v2 |
| 3 | g.147413492G>C | CA354898635 | ZIC1 | c.1285G>C (p.Val429Leu) n.521+19550G>C c.351G>C | |
| 3 | g.147413492G= | CA1409289730 | ZIC1 | c.1285G= (p.Val429=) n.521+19550G= c.351G= | |
| 3 | g.147413492G>T | CA354898636 | ZIC1 | c.1285G>T (p.Val429Phe) n.521+19550G>T c.351G>T | |
| 3 | g.147413493T>A | CA354898639 | ZIC1 | c.1286T>A (p.Val429Asp) n.521+19551T>A c.352T>A | |
| 3 | g.147413493T>C | CA354898638 | ZIC1 | c.1286T>C (p.Val429Ala) n.521+19551T>C c.352T>C | |
| 3 | g.147413493T>G | CA354898637 | ZIC1 | c.1286T>G (p.Val429Gly) n.521+19551T>G c.352T>G | |
| 3 | g.147413494C>A | CA436193706 | ZIC1 | c.1287C>A (p.Val429=) n.521+19552C>A c.353C>A | |
| 3 | g.147413494C= | CA1409289731 | ZIC1 | c.1287C= (p.Val429=) n.521+19552C= c.353C= | |
| 3 | g.147413494C>G | CA436193707 | ZIC1 | c.1287C>G (p.Val429=) n.521+19552C>G c.353C>G | dbSNP |
| 3 | g.147413494C>T | CA436193708 | ZIC1 | c.1287C>T (p.Val429=) n.521+19552C>T c.353C>T | |
| 3 | g.147413495C>A | CA354898640 | ZIC1 | c.1288C>A (p.His430Asn) n.521+19553C>A c.354C>A | COSMIC |
| 3 | g.147413495C>G | CA354898641 | ZIC1 | c.1288C>G (p.His430Asp) n.521+19553C>G c.354C>G | |
| 3 | g.147413495C>T | CA354898642 | ZIC1 | c.1288C>T (p.His430Tyr) n.521+19553C>T c.354C>T | |
| 3 | g.147413496A>C | CA354898643 | ZIC1 | c.1289A>C (p.His430Pro) n.521+19554A>C c.355A>C | |
| 3 | g.147413496A>G | CA354898644 | ZIC1 | c.1289A>G (p.His430Arg) n.521+19554A>G c.355A>G | gnomAD v4 |
| 3 | g.147413496A>T | CA354898645 | ZIC1 | c.1289A>T (p.His430Leu) n.521+19554A>T c.355A>T | |
| 3 | g.147413497C>A | CA354898646 | ZIC1 | c.1290C>A (p.His430Gln) n.521+19555C>A c.356C>A | |
| 3 | g.147413497C>G | CA354898647 | ZIC1 | c.1290C>G (p.His430Gln) n.521+19555C>G c.356C>G | |
| 3 | g.147413497C>T | CA436193717 | ZIC1 | c.1290C>T (p.His430=) n.521+19555C>T c.356C>T | gnomAD v4 |
| 3 | g.147413498C>A | CA354898648 | ZIC1 | c.1291C>A (p.His431Asn) n.521+19556C>A c.357C>A | |
| 3 | g.147413498C>G | CA354898649 | ZIC1 | c.1291C>G (p.His431Asp) n.521+19556C>G c.357C>G | |
| 3 | g.147413498C>T | CA354898650 | ZIC1 | c.1291C>T (p.His431Tyr) n.521+19556C>T c.357C>T | |
| 3 | g.147413499A= | CA1409289732 | ZIC1 | c.1292A= (p.His431=) n.521+19557A= c.358A= | |
| 3 | g.147413499A>C | CA354898651 | ZIC1 | c.1292A>C (p.His431Pro) n.521+19557A>C c.358A>C | |
| 3 | g.147413499A>G | CA354898652 | ZIC1 | c.1292A>G (p.His431Arg) n.521+19557A>G c.358A>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.147413499A>T | CA2657233 | ZIC1 | c.1292A>T (p.His431Leu) n.521+19557A>T c.358A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.147413500C>A | CA354898653 | ZIC1 | c.1293C>A (p.His431Gln) n.521+19558C>A c.359C>A | |
| 3 | g.147413500C= | CA1409289733 | ZIC1 | c.1293C= (p.His431=) n.521+19558C= c.359C= | |
| 3 | g.147413500C>G | CA354898654 | ZIC1 | c.1293C>G (p.His431Gln) n.521+19558C>G c.359C>G | |
| 3 | g.147413500C>T | CA436193740 | ZIC1 | c.1293C>T (p.His431=) n.521+19558C>T c.359C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.147413501A= | CA1409289734 | ZIC1 | c.1294A= (p.Thr432=) n.521+19559A= c.360A= | |
| 3 | g.147413501A>C | CA354898655 | ZIC1 | c.1294A>C (p.Thr432Pro) n.521+19559A>C c.360A>C | |
| 3 | g.147413501A>G | CA354898656 | ZIC1 | c.1294A>G (p.Thr432Ala) n.521+19559A>G c.360A>G | dbSNP |
| 3 | g.147413501A>T | CA354898657 | ZIC1 | c.1294A>T (p.Thr432Ser) n.521+19559A>T c.360A>T | |
| 3 | g.147413502C>A | CA354898658 | ZIC1 | c.1295C>A (p.Thr432Lys) n.521+19560C>A c.361C>A | |
| 3 | g.147413502C= | CA1409289735 | ZIC1 | c.1295C= (p.Thr432=) n.521+19560C= c.361C= | |
| 3 | g.147413502C>G | CA354898659 | ZIC1 | c.1295C>G (p.Thr432Arg) n.521+19560C>G c.361C>G | dbSNP gnomAD v2 COSMIC |
| 3 | g.147413502C>T | CA2657234 | ZIC1 | c.1295C>T (p.Thr432Ile) n.521+19560C>T c.361C>T | dbSNP ExAC gnomAD v2 |
| 3 | g.147413503A= | CA1409289736 | ZIC1 | c.1296A= (p.Thr432=) n.521+19561A= c.362A= | |
| 3 | g.147413503A>C | CA436193755 | ZIC1 | c.1296A>C (p.Thr432=) n.521+19561A>C c.362A>C | |
| 3 | g.147413503A>G | CA436193758 | ZIC1 | c.1296A>G (p.Thr432=) n.521+19561A>G c.362A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.147413503A>T | CA2657235 | ZIC1 | c.1296A>T (p.Thr432=) n.521+19561A>T c.362A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.147413504G>A | CA354898660 | ZIC1 | c.1297G>A (p.Ala433Thr) n.521+19562G>A c.363G>A | |
| 3 | g.147413504G>C | CA354898661 | ZIC1 | c.1297G>C (p.Ala433Pro) n.521+19562G>C c.363G>C | |
| 3 | g.147413504G>T | CA354898662 | ZIC1 | c.1297G>T (p.Ala433Ser) n.521+19562G>T c.363G>T | |
| 3 | g.147413505C>A | CA354898663 | ZIC1 | c.1298C>A (p.Ala433Asp) n.521+19563C>A c.364C>A | COSMIC |
| 3 | g.147413505C= | CA1409289737 | ZIC1 | c.1298C= (p.Ala433=) n.521+19563C= c.364C= | |
| 3 | g.147413505C>G | CA354898664 | ZIC1 | c.1298C>G (p.Ala433Gly) n.521+19563C>G c.364C>G | |
| 3 | g.147413505C>T | CA2657236 | ZIC1 | c.1298C>T (p.Ala433Val) n.521+19563C>T c.364C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.147413506C>A | CA2657238 | ZIC1 | c.1299C>A (p.Ala433=) n.521+19564C>A c.365C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.147413506C= | CA1409289738 | ZIC1 | c.1299C= (p.Ala433=) n.521+19564C= c.365C= | |
| 3 | g.147413506C>G | CA84582640 | ZIC1 | c.1299C>G (p.Ala433=) n.521+19564C>G c.365C>G | ClinVar dbSNP gnomAD v4 |
| 3 | g.147413506C>T | CA2657237 | ZIC1 | c.1299C>T (p.Ala433=) n.521+19564C>T c.365C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.147413507G>A | CA354898665 | ZIC1 | c.1300G>A (p.Gly434Ser) n.521+19565G>A c.366G>A | dbSNP gnomAD v4 COSMIC |
| 3 | g.147413507G>C | CA354898667 | ZIC1 | c.1300G>C (p.Gly434Arg) n.521+19565G>C c.366G>C | |
| 3 | g.147413507G= | CA1409289739 | ZIC1 | c.1300G= (p.Gly434=) n.521+19565G= c.366G= | |
| 3 | g.147413507G>T | CA354898666 | ZIC1 | c.1300G>T (p.Gly434Cys) n.521+19565G>T c.366G>T | gnomAD v4 |
| 3 | g.147413508G>A | CA354898668 | ZIC1 | c.1301G>A (p.Gly434Asp) n.521+19566G>A c.367G>A | |
| 3 | g.147413508G>C | CA354898669 | ZIC1 | c.1301G>C (p.Gly434Ala) n.521+19566G>C c.367G>C | |
| 3 | g.147413508G= | CA1409289740 | ZIC1 | c.1301G= (p.Gly434=) n.521+19566G= c.367G= | |
| 3 | g.147413508G>T | CA84582646 | ZIC1 | c.1301G>T (p.Gly434Val) n.521+19566G>T c.367G>T | dbSNP gnomAD v4 |
| 3 | g.147413509C>A | CA436193798 | ZIC1 | c.1302C>A (p.Gly434=) n.521+19567C>A c.368C>A | |
| 3 | g.147413509C>G | CA436193799 | ZIC1 | c.1302C>G (p.Gly434=) n.521+19567C>G c.368C>G | |
| 3 | g.147413509C>T | CA436193801 | ZIC1 | c.1302C>T (p.Gly434=) n.521+19567C>T c.368C>T | |
| 3 | g.147413510C>A | CA354898670 | ZIC1 | c.1303C>A (p.His435Asn) n.521+19568C>A c.369C>A | |
| 3 | g.147413510C>G | CA354898672 | ZIC1 | c.1303C>G (p.His435Asp) n.521+19568C>G c.369C>G | |
| 3 | g.147413510C>T | CA354898671 | ZIC1 | c.1303C>T (p.His435Tyr) n.521+19568C>T c.369C>T | |
| 3 | g.147413511A= | CA1409289741 | ZIC1 | c.1304A= (p.His435=) n.521+19569A= c.370A= | |
| 3 | g.147413511A>C | CA354898673 | ZIC1 | c.1304A>C (p.His435Pro) n.521+19569A>C c.370A>C | |
| 3 | g.147413511A>G | CA2657239 | ZIC1 | c.1304A>G (p.His435Arg) n.521+19569A>G c.370A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.147413511A>T | CA354898674 | ZIC1 | c.1304A>T (p.His435Leu) n.521+19569A>T c.370A>T | |
| 3 | g.147413512C>A | CA354898675 | ZIC1 | c.1305C>A (p.His435Gln) n.521+19570C>A c.371C>A | gnomAD v4 |
| 3 | g.147413512C= | CA1409289742 | ZIC1 | c.1305C= (p.His435=) n.521+19570C= c.371C= | |
| 3 | g.147413512C>G | CA2657240 | ZIC1 | c.1305C>G (p.His435Gln) n.521+19570C>G c.371C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.147413512C>T | CA436193816 | ZIC1 | c.1305C>T (p.His435=) n.521+19570C>T c.371C>T | |
| 3 | g.147413513A= | CA1409289743 | ZIC1 | c.1306A= (p.Ser436=) n.521+19571A= c.372A= | |
| 3 | g.147413513A>C | CA354898676 | ZIC1 | c.1306A>C (p.Ser436Arg) n.521+19571A>C c.372A>C | COSMIC |
| 3 | g.147413513A>G | CA2657241 | ZIC1 | c.1306A>G (p.Ser436Gly) n.521+19571A>G c.372A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.147413513A>T | CA354898677 | ZIC1 | c.1306A>T (p.Ser436Cys) n.521+19571A>T c.372A>T | |
| 3 | g.147413514G>A | CA354898678 | ZIC1 | c.1307G>A (p.Ser436Asn) n.521+19572G>A c.373G>A | gnomAD v4 COSMIC |
| 3 | g.147413514G>C | CA354898679 | ZIC1 | c.1307G>C (p.Ser436Thr) n.521+19572G>C c.373G>C | |
| 3 | g.147413514G= | CA1409289744 | ZIC1 | c.1307G= (p.Ser436=) n.521+19572G= c.373G= | |
| 3 | g.147413514G>T | CA354898680 | ZIC1 | c.1307G>T (p.Ser436Ile) n.521+19572G>T c.373G>T | |
| 3 | g.147413515T>A | CA354898682 | ZIC1 | c.1308T>A (p.Ser436Arg) n.521+19573T>A c.374T>A | gnomAD v4 |
| 3 | g.147413515T>C | CA436193828 | ZIC1 | c.1308T>C (p.Ser436=) n.521+19573T>C c.374T>C | |
| 3 | g.147413515T>G | CA354898681 | ZIC1 | c.1308T>G (p.Ser436Arg) n.521+19573T>G c.374T>G | |
| 3 | g.147413515dup | CA1409289745 | ZIC1 | c.1308dup (p.Ala437CysfsTer7) n.521+19573dup c.374dup | dbSNP |
| 3 | g.147413516G>A | CA354898683 | ZIC1 | c.1309G>A (p.Ala437Thr) n.521+19574G>A c.375G>A | |
| 3 | g.147413516G>C | CA354898684 | ZIC1 | c.1309G>C (p.Ala437Pro) n.521+19574G>C c.375G>C | |
| 3 | g.147413516G>T | CA354898685 | ZIC1 | c.1309G>T (p.Ala437Ser) n.521+19574G>T c.375G>T | gnomAD v4 |
| 3 | g.147413517C>A | CA2657242 | ZIC1 | c.1310C>A (p.Ala437Glu) n.521+19575C>A c.376C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.147413517C= | CA1409289746 | ZIC1 | c.1310C= (p.Ala437=) n.521+19575C= c.376C= | |
| 3 | g.147413517C>G | CA354898686 | ZIC1 | c.1310C>G (p.Ala437Gly) n.521+19575C>G c.376C>G | gnomAD v4 |
| 3 | g.147413517C>T | CA84582693 | ZIC1 | c.1310C>T (p.Ala437Val) n.521+19575C>T c.376C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.147413518G>A | CA436193842 | ZIC1 | c.1311G>A (p.Ala437=) n.521+19576G>A c.377G>A | dbSNP |
| 3 | g.147413518G>C | CA2657244 | ZIC1 | c.1311G>C (p.Ala437=) n.521+19576G>C c.377G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.147413518G= | CA1409289747 | ZIC1 | c.1311G= (p.Ala437=) n.521+19576G= c.377G= | |
| 3 | g.147413518G>T | CA2657243 | ZIC1 | c.1311G>T (p.Ala437=) n.521+19576G>T c.377G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.147413519C>A | CA354898687 | ZIC1 | c.1312C>A (p.Leu438Ile) n.521+19577C>A c.378C>A | |
| 3 | g.147413519C>G | CA354898688 | ZIC1 | c.1312C>G (p.Leu438Val) n.521+19577C>G c.378C>G | |
| 3 | g.147413519C>T | CA354898689 | ZIC1 | c.1312C>T (p.Leu438Phe) n.521+19577C>T c.378C>T | |
| 3 | g.147413520T>A | CA354898691 | ZIC1 | c.1313T>A (p.Leu438His) n.521+19578T>A c.379T>A | |
| 3 | g.147413520T>C | CA354898692 | ZIC1 | c.1313T>C (p.Leu438Pro) n.521+19578T>C c.379T>C | |
| 3 | g.147413520T>G | CA354898690 | ZIC1 | c.1313T>G (p.Leu438Arg) n.521+19578T>G c.379T>G | |
| 3 | g.147413521C>A | CA436193861 | ZIC1 | c.1314C>A (p.Leu438=) n.521+19579C>A c.380C>A | COSMIC |
| 3 | g.147413521C= | CA1409289748 | ZIC1 | c.1314C= (p.Leu438=) n.521+19579C= c.380C= | |
| 3 | g.147413521C>G | CA2657245 | ZIC1 | c.1314C>G (p.Leu438=) n.521+19579C>G c.380C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.147413521C>T | CA436193865 | ZIC1 | c.1314C>T (p.Leu438=) n.521+19579C>T c.380C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.147413522T>A | CA354898693 | ZIC1 | c.1315T>A (p.Ser439Thr) n.521+19580T>A c.381T>A | |
| 3 | g.147413522T>C | CA354898694 | ZIC1 | c.1315T>C (p.Ser439Pro) n.521+19580T>C c.381T>C | gnomAD v4 |
| 3 | g.147413522T>G | CA354898695 | ZIC1 | c.1315T>G (p.Ser439Ala) n.521+19580T>G c.381T>G | |
| 3 | g.147413523C>A | CA354898696 | ZIC1 | c.1316C>A (p.Ser439Tyr) n.521+19581C>A c.382C>A | |
| 3 | g.147413523C= | CA1409289749 | ZIC1 | c.1316C= (p.Ser439=) n.521+19581C= c.382C= | |
| 3 | g.147413523C>G | CA354898697 | ZIC1 | c.1316C>G (p.Ser439Cys) n.521+19581C>G c.382C>G | |
| 3 | g.147413523C>T | CA354898698 | ZIC1 | c.1316C>T (p.Ser439Phe) n.521+19581C>T c.382C>T | dbSNP gnomAD v4 |
| 3 | g.147413524T>A | CA436193878 | ZIC1 | c.1317T>A (p.Ser439=) n.521+19582T>A c.383T>A | COSMIC |
| 3 | g.147413524T>C | CA436193883 | ZIC1 | c.1317T>C (p.Ser439=) n.521+19582T>C c.383T>C | |
| 3 | g.147413524T>G | CA436193880 | ZIC1 | c.1317T>G (p.Ser439=) n.521+19582T>G c.383T>G | |
| 3 | g.147413525T>A | CA354898699 | ZIC1 | c.1318T>A (p.Ser440Thr) n.521+19583T>A c.384T>A | |
| 3 | g.147413525T>C | CA354898700 | ZIC1 | c.1318T>C (p.Ser440Pro) n.521+19583T>C c.384T>C | |
| 3 | g.147413525T>G | CA354898701 | ZIC1 | c.1318T>G (p.Ser440Ala) n.521+19583T>G c.384T>G | |
| 3 | g.147413526C>A | CA354898702 | ZIC1 | c.1319C>A (p.Ser440Tyr) n.521+19584C>A c.385C>A | gnomAD v4 |
| 3 | g.147413526C>G | CA354898703 | ZIC1 | c.1319C>G (p.Ser440Cys) n.521+19584C>G c.385C>G | |
| 3 | g.147413526C>T | CA354898704 | ZIC1 | c.1319C>T (p.Ser440Phe) n.521+19584C>T c.385C>T | |
| 3 | g.147413527C>A | CA436193893 | ZIC1 | c.1320C>A (p.Ser440=) n.521+19585C>A c.386C>A | |
| 3 | g.147413527C= | CA1409289750 | ZIC1 | c.1320C= (p.Ser440=) n.521+19585C= c.386C= | |
| 3 | g.147413527C>G | CA436193896 | ZIC1 | c.1320C>G (p.Ser440=) n.521+19585C>G c.386C>G | |
| 3 | g.147413527C>T | CA2657246 | ZIC1 | c.1320C>T (p.Ser440=) n.521+19585C>T c.386C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.147413528A>C | CA354898705 | ZIC1 | c.1321A>C (p.Asn441His) n.521+19586A>C c.387A>C | |
| 3 | g.147413528A>G | CA354898706 | ZIC1 | c.1321A>G (p.Asn441Asp) n.521+19586A>G c.387A>G | |
| 3 | g.147413528A>T | CA354898707 | ZIC1 | c.1321A>T (p.Asn441Tyr) n.521+19586A>T c.387A>T | |
| 3 | g.147413529A= | CA1409289751 | ZIC1 | c.1322A= (p.Asn441=) n.521+19587A= c.388A= | |
| 3 | g.147413529A>C | CA354898708 | ZIC1 | c.1322A>C (p.Asn441Thr) n.521+19587A>C c.388A>C | dbSNP |
| 3 | g.147413529A>G | CA354898709 | ZIC1 | c.1322A>G (p.Asn441Ser) n.521+19587A>G c.388A>G | |
| 3 | g.147413529A>T | CA354898710 | ZIC1 | c.1322A>T (p.Asn441Ile) n.521+19587A>T c.388A>T | |
| 3 | g.147413530T>A | CA354898711 | ZIC1 | c.1323T>A (p.Asn441Lys) n.521+19588T>A c.389T>A | gnomAD v4 |
| 3 | g.147413530T>C | CA436193918 | ZIC1 | c.1323T>C (p.Asn441=) n.521+19588T>C c.389T>C | |
| 3 | g.147413530T>G | CA354898712 | ZIC1 | c.1323T>G (p.Asn441Lys) n.521+19588T>G c.389T>G | |
| 3 | g.147413531T>A | CA354898713 | ZIC1 | c.1324T>A (p.Phe442Ile) n.521+19589T>A c.390T>A | |
| 3 | g.147413531T>C | CA354898714 | ZIC1 | c.1324T>C (p.Phe442Leu) n.521+19589T>C c.390T>C | |
| 3 | g.147413531T>G | CA354898715 | ZIC1 | c.1324T>G (p.Phe442Val) n.521+19589T>G c.390T>G | |
| 3 | g.147413532T>A | CA354898716 | ZIC1 | c.1325T>A (p.Phe442Tyr) n.521+19590T>A c.391T>A | |
| 3 | g.147413532T>C | CA354898717 | ZIC1 | c.1325T>C (p.Phe442Ser) n.521+19590T>C c.391T>C | |
| 3 | g.147413532T>G | CA354898718 | ZIC1 | c.1325T>G (p.Phe442Cys) n.521+19590T>G c.391T>G | |
| 3 | g.147413533T>A | CA354898719 | ZIC1 | c.1326T>A (p.Phe442Leu) n.521+19591T>A c.392T>A | |
| 3 | g.147413533T>C | CA436193930 | ZIC1 | c.1326T>C (p.Phe442=) n.521+19591T>C c.392T>C | |
| 3 | g.147413533T>G | CA354898720 | ZIC1 | c.1326T>G (p.Phe442Leu) n.521+19591T>G c.392T>G | |
| 3 | g.147413534A>C | CA354898721 | ZIC1 | c.1327A>C (p.Asn443His) n.521+19592A>C c.393A>C | |
| 3 | g.147413534A>G | CA354898723 | ZIC1 | c.1327A>G (p.Asn443Asp) n.521+19592A>G c.393A>G | |
| 3 | g.147413534A>T | CA354898722 | ZIC1 | c.1327A>T (p.Asn443Tyr) n.521+19592A>T c.393A>T | |
| 3 | g.147413535A>C | CA354898724 | ZIC1 | c.1328A>C (p.Asn443Thr) n.521+19593A>C c.394A>C | |
| 3 | g.147413535A>G | CA354898725 | ZIC1 | c.1328A>G (p.Asn443Ser) n.521+19593A>G c.394A>G | |
| 3 | g.147413535A>T | CA354898726 | ZIC1 | c.1328A>T (p.Asn443Ile) n.521+19593A>T c.394A>T | |
| 3 | g.147413536C>A | CA354898727 | ZIC1 | c.1329C>A (p.Asn443Lys) n.521+19594C>A c.395C>A | |
| 3 | g.147413536C= | CA1409289752 | ZIC1 | c.1329C= (p.Asn443=) n.521+19594C= c.395C= | |
| 3 | g.147413536C>G | CA2657247 | ZIC1 | c.1329C>G (p.Asn443Lys) n.521+19594C>G c.395C>G | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.147413536C>T | CA84582716 | ZIC1 | c.1329C>T (p.Asn443=) n.521+19594C>T c.395C>T | dbSNP gnomAD v4 |
| 3 | g.147413537G>A | CA354898728 | ZIC1 | c.1330G>A (p.Glu444Lys) n.521+19595G>A c.396G>A | COSMIC |
| 3 | g.147413537G>C | CA354898729 | ZIC1 | c.1330G>C (p.Glu444Gln) n.521+19595G>C c.396G>C | |
| 3 | g.147413537G>T | CA354898730 | ZIC1 | c.1330G>T (p.Glu444Ter) n.521+19595G>T c.396G>T | |
| 3 | g.147413538A>C | CA354898731 | ZIC1 | c.1331A>C (p.Glu444Ala) n.521+19596A>C c.397A>C | |
| 3 | g.147413538A>G | CA354898732 | ZIC1 | c.1331A>G (p.Glu444Gly) n.521+19596A>G c.397A>G | |
| 3 | g.147413538A>T | CA354898733 | ZIC1 | c.1331A>T (p.Glu444Val) n.521+19596A>T c.397A>T | |
| 3 | g.147413539A>C | CA354898735 | ZIC1 | c.1332A>C (p.Glu444Asp) n.521+19597A>C c.398A>C | |
| 3 | g.147413539A>G | CA436193959 | ZIC1 | c.1332A>G (p.Glu444=) n.521+19597A>G c.398A>G | |
| 3 | g.147413539A>T | CA354898734 | ZIC1 | c.1332A>T (p.Glu444Asp) n.521+19597A>T c.398A>T | |
| 3 | g.147413540T>A | CA354898736 | ZIC1 | c.1333T>A (p.Trp445Arg) n.521+19598T>A c.399T>A | |
| 3 | g.147413540T>C | CA354898737 | ZIC1 | c.1333T>C (p.Trp445Arg) n.521+19598T>C c.399T>C | |
| 3 | g.147413540T>G | CA354898738 | ZIC1 | c.1333T>G (p.Trp445Gly) n.521+19598T>G c.399T>G | |
| 3 | g.147413541G>A | CA354898739 | ZIC1 | c.1334G>A (p.Trp445Ter) n.521+19599G>A c.400G>A | |
| 3 | g.147413541G>C | CA354898740 | ZIC1 | c.1334G>C (p.Trp445Ser) n.521+19599G>C c.400G>C | |
| 3 | g.147413541G>T | CA354898741 | ZIC1 | c.1334G>T (p.Trp445Leu) n.521+19599G>T c.400G>T | COSMIC |
| 3 | g.147413542G>A | CA354898742 | ZIC1 | c.1335G>A (p.Trp445Ter) n.521+19600G>A c.401G>A | COSMIC |
| 3 | g.147413542G>C | CA354898743 | ZIC1 | c.1335G>C (p.Trp445Cys) n.521+19600G>C c.401G>C | |
| 3 | g.147413542G>T | CA354898744 | ZIC1 | c.1335G>T (p.Trp445Cys) n.521+19600G>T c.401G>T | |
| 3 | g.147413543T>A | CA354898745 | ZIC1 | c.1336T>A (p.Tyr446Asn) n.521+19601T>A c.402T>A | |
| 3 | g.147413543T>C | CA354898746 | ZIC1 | c.1336T>C (p.Tyr446His) n.521+19601T>C c.402T>C | |
| 3 | g.147413543T>G | CA354898747 | ZIC1 | c.1336T>G (p.Tyr446Asp) n.521+19601T>G c.402T>G | |
| 3 | g.147413544A>C | CA354898750 | ZIC1 | c.1337A>C (p.Tyr446Ser) n.521+19602A>C c.403A>C | |
| 3 | g.147413544A>G | CA354898749 | ZIC1 | c.1337A>G (p.Tyr446Cys) n.521+19602A>G c.403A>G | |
| 3 | g.147413544A>T | CA354898748 | ZIC1 | c.1337A>T (p.Tyr446Phe) n.521+19602A>T c.403A>T | |
| 3 | g.147413545C>A | CA354898751 | ZIC1 | c.1338C>A (p.Tyr446Ter) n.521+19603C>A c.404C>A | |
| 3 | g.147413545C= | CA1409289753 | ZIC1 | c.1338C= (p.Tyr446=) n.521+19603C= c.404C= | |
| 3 | g.147413545C>G | CA354898752 | ZIC1 | c.1338C>G (p.Tyr446Ter) n.521+19603C>G c.404C>G | |
| 3 | g.147413545C>T | CA436194000 | ZIC1 | c.1338C>T (p.Tyr446=) n.521+19603C>T c.404C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.147413546G>A | CA2657248 | ZIC1 | c.1339G>A (p.Val447Ile) n.521+19604G>A c.405G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.147413546G>C | CA354898753 | ZIC1 | c.1339G>C (p.Val447Leu) n.521+19604G>C c.405G>C | |
| 3 | g.147413546G= | CA1409289754 | ZIC1 | c.1339G= (p.Val447=) n.521+19604G= c.405G= | |
| 3 | g.147413546G>T | CA354898754 | ZIC1 | c.1339G>T (p.Val447Phe) n.521+19604G>T c.405G>T | gnomAD v4 |
| 3 | g.147413547T>A | CA354898755 | ZIC1 | c.1340T>A (p.Val447Asp) n.521+19605T>A c.406T>A | |
| 3 | g.147413547T>C | CA354898756 | ZIC1 | c.1340T>C (p.Val447Ala) n.521+19605T>C c.406T>C | |
| 3 | g.147413547T>G | CA354898757 | ZIC1 | c.1340T>G (p.Val447Gly) n.521+19605T>G c.406T>G | |
| 3 | g.147413548T>A | CA436194018 | ZIC1 | c.1341T>A (p.Val447=) n.521+19606T>A c.407T>A | |
| 3 | g.147413548T>C | CA436194020 | ZIC1 | c.1341T>C (p.Val447=) n.521+19606T>C c.407T>C | |
| 3 | g.147413548T>G | CA436194025 | ZIC1 | c.1341T>G (p.Val447=) n.521+19606T>G c.407T>G | |
| 3 | g.147413549T>A | CA354898758 | ZIC1 | c.1342T>A (p.Ter448Lys) n.521+19607T>A c.408T>A | |
| 3 | g.147413549T>C | CA354898759 | ZIC1 | c.1342T>C (p.Ter448Gln) n.521+19607T>C c.408T>C | |
| 3 | g.147413549T>G | CA354898760 | ZIC1 | c.1342T>G (p.Ter448Glu) n.521+19607T>G c.408T>G | |
| 3 | g.147413550A= | CA1409289755 | ZIC1 | c.1343A= (p.Ter448=) n.521+19608A= c.409A= | |
| 3 | g.147413550A>C | CA354898761 | ZIC1 | c.1343A>C (p.Ter448Ser) n.521+19608A>C c.409A>C | |
| 3 | g.147413550A>G | CA2657249 | ZIC1 | c.1343A>G (p.Ter448=) n.521+19608A>G c.409A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.147413550A>T | CA354898762 | ZIC1 | c.1343A>T (p.Ter448Leu) n.521+19608A>T c.409A>T | |
| 3 | g.147413551A>C | CA354898763 | ZIC1 | c.1344A>C (p.Ter448Tyr) n.521+19609A>C c.410A>C | |
| 3 | g.147413551A>G | CA436194034 | ZIC1 | c.1344A>G (p.Ter448=) n.521+19609A>G c.410A>G | |
| 3 | g.147413551A>T | CA354898764 | ZIC1 | c.1344A>T (p.Ter448Tyr) n.521+19609A>T c.410A>T | |
| 3 | g.147413553A= | CA1409289756 | ZIC1 | c.*2A= (n.*2A=) n.521+19611A= c.412A= | |
| 3 | g.147413553A>C | CA900396136 | ZIC1 | c.*2A>C (n.*2A>C) n.521+19611A>C c.412A>C | dbSNP |
| 3 | g.147413555C>A | CA2668109613 | ZIC1 | c.*4C>A (n.*4C>A) n.521+19613C>A c.414C>A | gnomAD v4 |
| 3 | g.147413555C= | CA1409289757 | ZIC1 | c.*4C= (n.*4C=) n.521+19613C= c.414C= | |
| 3 | g.147413555C>G | CA84582732 | ZIC1 | c.*4C>G (n.*4C>G) n.521+19613C>G c.414C>G | dbSNP |
| 3 | g.147413555C>T | CA84582730 | ZIC1 | c.*4C>T (n.*4C>T) n.521+19613C>T c.414C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.147413556del | CA2668109615 | ZIC1 | c.*5del (n.*5del) n.521+19614del c.415del | gnomAD v4 |
| 3 | g.147413557G>A | CA2758815001 | ZIC1 | c.*6G>A (n.*6G>A) n.521+19615G>A c.416G>A | |
| 3 | g.147413557G>C | CA2758815002 | ZIC1 | c.*6G>C (n.*6G>C) n.521+19615G>C c.416G>C | |
| 3 | g.147413560A= | CA1409289758 | ZIC1 | c.*9A= (n.*9A=) n.521+19618A= c.419A= | |
| 3 | g.147413560A>C | CA2657250 | ZIC1 | c.*9A>C (n.*9A>C) n.521+19618A>C c.419A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |