| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.216324238_216324240del | CA1396561 | USH2A | c.1259_1261del (p.Gly420del) | dbSNP ExAC gnomAD v4 |
| 1 | g.216324240C>A | CA252239 | USH2A | c.1256G>T (p.Cys419Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216324240C= | CA1141581514 | USH2A | c.1256G= (p.Cys419=) | |
| 1 | g.216324240C>G | CA344911621 | USH2A | c.1256G>C (p.Cys419Ser) | |
| 1 | g.216324240C>T | CA344911622 | USH2A | c.1256G>A (p.Cys419Tyr) | gnomAD v4 |
| 1 | g.216324241A= | CA1220652451 | USH2A | c.1255T= (p.Cys419=) | |
| 1 | g.216324241A>C | CA344911624 | USH2A | c.1255T>G (p.Cys419Gly) | |
| 1 | g.216324241A>G | CA1396564 | USH2A | c.1255T>C (p.Cys419Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216324241A>T | CA344911627 | USH2A | c.1255T>A (p.Cys419Ser) | |
| 1 | g.216324242A= | CA1220652452 | USH2A | c.1254T= (p.Asn418=) | |
| 1 | g.216324242A>C | CA344911628 | USH2A | c.1254T>G (p.Asn418Lys) | dbSNP |
| 1 | g.216324242A>G | CA423397873 | USH2A | c.1254T>C (p.Asn418=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.216324242A>T | CA344911629 | USH2A | c.1254T>A (p.Asn418Lys) | |
| 1 | g.216324243T>A | CA344911632 | USH2A | c.1253A>T (p.Asn418Ile) | |
| 1 | g.216324243T>C | CA344911637 | USH2A | c.1253A>G (p.Asn418Ser) | |
| 1 | g.216324243T>G | CA344911633 | USH2A | c.1253A>C (p.Asn418Thr) | |
| 1 | g.216324244T>A | CA344911639 | USH2A | c.1252A>T (p.Asn418Tyr) | ClinVar dbSNP gnomAD v4 |
| 1 | g.216324244T>C | CA344911640 | USH2A | c.1252A>G (p.Asn418Asp) | |
| 1 | g.216324244T>G | CA344911645 | USH2A | c.1252A>C (p.Asn418His) | |
| 1 | g.216324245C>A | CA344911647 | USH2A | c.1251G>T (p.Arg417Ser) | |
| 1 | g.216324245C= | CA1220652453 | USH2A | c.1251G= (p.Arg417=) | |
| 1 | g.216324245C>G | CA344911649 | USH2A | c.1251G>C (p.Arg417Ser) | |
| 1 | g.216324245C>T | CA37898322 | USH2A | c.1251G>A (p.Arg417=) | ClinVar dbSNP gnomAD v2 |
| 1 | g.216324246C>A | CA344911651 | USH2A | c.1250G>T (p.Arg417Met) | |
| 1 | g.216324246C>G | CA344911653 | USH2A | c.1250G>C (p.Arg417Thr) | |
| 1 | g.216324246C>T | CA344911655 | USH2A | c.1250G>A (p.Arg417Lys) | COSMIC COSMIC COSMIC |
| 1 | g.216324247T>A | CA344911656 | USH2A | c.1249A>T (p.Arg417Trp) | |
| 1 | g.216324247T>C | CA344911657 | USH2A | c.1249A>G (p.Arg417Gly) | |
| 1 | g.216324247T>G | CA423397874 | USH2A | c.1249A>C (p.Arg417=) | dbSNP |
| 1 | g.216324247T= | CA1220652454 | USH2A | c.1249A= (p.Arg417=) | |
| 1 | g.216324248G>A | CA423397875 | USH2A | c.1248C>T (p.Ala416=) | |
| 1 | g.216324248G>C | CA423397876 | USH2A | c.1248C>G (p.Ala416=) | |
| 1 | g.216324248G>T | CA423397877 | USH2A | c.1248C>A (p.Ala416=) | |
| 1 | g.216324249G>A | CA344911658 | USH2A | c.1247C>T (p.Ala416Val) | |
| 1 | g.216324249G>C | CA344911659 | USH2A | c.1247C>G (p.Ala416Gly) | |
| 1 | g.216324249G>T | CA344911660 | USH2A | c.1247C>A (p.Ala416Asp) | |
| 1 | g.216324250C>A | CA1396565 | USH2A | c.1246G>T (p.Ala416Ser) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.216324250C= | CA1142955932 | USH2A | c.1246G= (p.Ala416=) | |
| 1 | g.216324250C>G | CA344911664 | USH2A | c.1246G>C (p.Ala416Pro) | gnomAD v4 |
| 1 | g.216324250C>T | CA1396566 | USH2A | c.1246G>A (p.Ala416Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216324251A>C | CA344911666 | USH2A | c.1245T>G (p.Phe415Leu) | |
| 1 | g.216324251A>G | CA423397879 | USH2A | c.1245T>C (p.Phe415=) | |
| 1 | g.216324251A>T | CA344911667 | USH2A | c.1245T>A (p.Phe415Leu) | |
| 1 | g.216324252A>C | CA344911668 | USH2A | c.1244T>G (p.Phe415Cys) | |
| 1 | g.216324252A>G | CA344911669 | USH2A | c.1244T>C (p.Phe415Ser) | |
| 1 | g.216324252A>T | CA344911670 | USH2A | c.1244T>A (p.Phe415Tyr) | |
| 1 | g.216324253A>C | CA344911671 | USH2A | c.1243T>G (p.Phe415Val) | |
| 1 | g.216324253A>G | CA344911673 | USH2A | c.1243T>C (p.Phe415Leu) | |
| 1 | g.216324253A>T | CA344911675 | USH2A | c.1243T>A (p.Phe415Ile) | |
| 1 | g.216324254A>C | CA344911678 | USH2A | c.1242T>G (p.Tyr414Ter) |