| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| 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 |