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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.216175278G>A | CA344863550 | USH2A | c.4601C>T (p.Thr1534Ile) | |
| 1 | g.216175278G>C | CA344863551 | USH2A | c.4601C>G (p.Thr1534Ser) | |
| 1 | g.216175278G>T | CA344863552 | USH2A | c.4601C>A (p.Thr1534Asn) | |
| 1 | g.216175279T>A | CA344863553 | USH2A | c.4600A>T (p.Thr1534Ser) | |
| 1 | g.216175279T>C | CA344863554 | USH2A | c.4600A>G (p.Thr1534Ala) | |
| 1 | g.216175279T>G | CA344863555 | USH2A | c.4600A>C (p.Thr1534Pro) | gnomAD v4 |
| 1 | g.216175280G>A | CA423430848 | USH2A | c.4599C>T (p.Ser1533=) | ClinVar |
| 1 | g.216175280G>C | CA423430850 | USH2A | c.4599C>G (p.Ser1533=) | |
| 1 | g.216175280G>T | CA423430849 | USH2A | c.4599C>A (p.Ser1533=) | |
| 1 | g.216175281G>A | CA344863556 | USH2A | c.4598C>T (p.Ser1533Phe) | |
| 1 | g.216175281G>C | CA344863557 | USH2A | c.4598C>G (p.Ser1533Cys) | gnomAD v4 |
| 1 | g.216175281G>T | CA344863558 | USH2A | c.4598C>A (p.Ser1533Tyr) | |
| 1 | g.216175282A>C | CA344863559 | USH2A | c.4597T>G (p.Ser1533Ala) | |
| 1 | g.216175282A>G | CA344863561 | USH2A | c.4597T>C (p.Ser1533Pro) | gnomAD v4 |
| 1 | g.216175282A>T | CA344863560 | USH2A | c.4597T>A (p.Ser1533Thr) | |
| 1 | g.216175283G>A | CA423430851 | USH2A | c.4596C>T (p.Ser1532=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216175283G>C | CA344863562 | USH2A | c.4596C>G (p.Ser1532Arg) | |
| 1 | g.216175283G= | CA1220587978 | USH2A | c.4596C= (p.Ser1532=) | |
| 1 | g.216175283G>T | CA344863563 | USH2A | c.4596C>A (p.Ser1532Arg) | |
| 1 | g.216175284C>A | CA344863564 | USH2A | c.4595G>T (p.Ser1532Ile) | dbSNP |
| 1 | g.216175284C= | CA1141259669 | USH2A | c.4595G= (p.Ser1532=) | |
| 1 | g.216175284C>G | CA344863565 | USH2A | c.4595G>C (p.Ser1532Thr) | gnomAD v4 |
| 1 | g.216175284C>T | CA37492700 | USH2A | c.4595G>A (p.Ser1532Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216175285T>A | CA344863566 | USH2A | c.4594A>T (p.Ser1532Cys) | |
| 1 | g.216175285T>C | CA1395686 | USH2A | c.4594A>G (p.Ser1532Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216175285T>G | CA344863567 | USH2A | c.4594A>C (p.Ser1532Arg) | |
| 1 | g.216175285T= | CA1148298201 | USH2A | c.4594A= (p.Ser1532=) | |
| 1 | g.216175286G>A | CA423430852 | USH2A | c.4593C>T (p.Pro1531=) | |
| 1 | g.216175286G>C | CA423430853 | USH2A | c.4593C>G (p.Pro1531=) | ClinVar |
| 1 | g.216175286G>T | CA423430854 | USH2A | c.4593C>A (p.Pro1531=) | |
| 1 | g.216175287G>A | CA344863568 | USH2A | c.4592C>T (p.Pro1531Leu) | |
| 1 | g.216175287G>C | CA344863569 | USH2A | c.4592C>G (p.Pro1531Arg) | |
| 1 | g.216175287G>T | CA344863570 | USH2A | c.4592C>A (p.Pro1531His) | |
| 1 | g.216175288G>A | CA344863573 | USH2A | c.4591C>T (p.Pro1531Ser) | COSMIC COSMIC COSMIC |
| 1 | g.216175288G>C | CA344863572 | USH2A | c.4591C>G (p.Pro1531Ala) | |
| 1 | g.216175288G>T | CA344863571 | USH2A | c.4591C>A (p.Pro1531Thr) | |
| 1 | g.216175289A>C | CA344863574 | USH2A | c.4590T>G (p.Phe1530Leu) | |
| 1 | g.216175289A>G | CA423430855 | USH2A | c.4590T>C (p.Phe1530=) | |
| 1 | g.216175289A>T | CA344863575 | USH2A | c.4590T>A (p.Phe1530Leu) | |
| 1 | g.216175290A>C | CA344863576 | USH2A | c.4589T>G (p.Phe1530Cys) | |
| 1 | g.216175290A>G | CA344863577 | USH2A | c.4589T>C (p.Phe1530Ser) | |
| 1 | g.216175290A>T | CA344863578 | USH2A | c.4589T>A (p.Phe1530Tyr) | |
| 1 | g.216175291A>C | CA344863579 | USH2A | c.4588T>G (p.Phe1530Val) | |
| 1 | g.216175291A>G | CA344863580 | USH2A | c.4588T>C (p.Phe1530Leu) | |
| 1 | g.216175291A>T | CA344863581 | USH2A | c.4588T>A (p.Phe1530Ile) | |
| 1 | g.216175292T>A | CA344863582 | USH2A | c.4587A>T (p.Lys1529Asn) | |
| 1 | g.216175292T>C | CA423430856 | USH2A | c.4587A>G (p.Lys1529=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216175292T>G | CA1395687 | USH2A | c.4587A>C (p.Lys1529Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216175292T= | CA1220587990 | USH2A | c.4587A= (p.Lys1529=) | |
| 1 | g.216175293T>A | CA143494 | USH2A | c.4586A>T (p.Lys1529Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216175293T>C | CA344863583 | USH2A | c.4586A>G (p.Lys1529Arg) | ClinVar dbSNP |
| 1 | g.216175293T>G | CA344863584 | USH2A | c.4586A>C (p.Lys1529Thr) | gnomAD v4 |
| 1 | g.216175293T= | CA1140612996 | USH2A | c.4586A= (p.Lys1529=) | |
| 1 | g.216175294T>A | CA344863586 | USH2A | c.4585A>T (p.Lys1529Ter) | ClinVar |
| 1 | g.216175294T>C | CA344863587 | USH2A | c.4585A>G (p.Lys1529Glu) | |
| 1 | g.216175294T>G | CA344863585 | USH2A | c.4585A>C (p.Lys1529Gln) | |
| 1 | g.216175295A>C | CA344863588 | USH2A | c.4584T>G (p.Cys1528Trp) | |
| 1 | g.216175295A>G | CA423430857 | USH2A | c.4584T>C (p.Cys1528=) | gnomAD v4 |
| 1 | g.216175295A>T | CA344863589 | USH2A | c.4584T>A (p.Cys1528Ter) | |
| 1 | g.216175296C>A | CA344863590 | USH2A | c.4583G>T (p.Cys1528Phe) | |
| 1 | g.216175296C= | CA1220588004 | USH2A | c.4583G= (p.Cys1528=) | |
| 1 | g.216175296C>G | CA344863591 | USH2A | c.4583G>C (p.Cys1528Ser) | |
| 1 | g.216175296C>T | CA344863592 | USH2A | c.4583G>A (p.Cys1528Tyr) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216175297A= | CA1220588008 | USH2A | c.4582T= (p.Cys1528=) | |
| 1 | g.216175297A>C | CA344863593 | USH2A | c.4582T>G (p.Cys1528Gly) | gnomAD v4 |
| 1 | g.216175297A>G | CA344863594 | USH2A | c.4582T>C (p.Cys1528Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216175297A>T | CA344863595 | USH2A | c.4582T>A (p.Cys1528Ser) | |
| 1 | g.216175298A>C | CA344863596 | USH2A | c.4581T>G (p.Tyr1527Ter) | |
| 1 | g.216175298A>G | CA423430858 | USH2A | c.4581T>C (p.Tyr1527=) | |
| 1 | g.216175298A>T | CA344863597 | USH2A | c.4581T>A (p.Tyr1527Ter) | |
| 1 | g.216175299T>A | CA344863598 | USH2A | c.4580A>T (p.Tyr1527Phe) | |
| 1 | g.216175299T>C | CA344863599 | USH2A | c.4580A>G (p.Tyr1527Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216175299T>G | CA344863600 | USH2A | c.4580A>C (p.Tyr1527Ser) | |
| 1 | g.216175300A>C | CA344863601 | USH2A | c.4579T>G (p.Tyr1527Asp) | |
| 1 | g.216175300A>G | CA344863602 | USH2A | c.4579T>C (p.Tyr1527His) | |
| 1 | g.216175300A>T | CA344863603 | USH2A | c.4579T>A (p.Tyr1527Asn) | |
| 1 | g.216175301_216175304dup | CA2586968251 | USH2A | c.4576_4579dup (p.Tyr1527TrpfsTer4) | |
| 1 | g.216175301C>A | CA143491 | USH2A | c.4578G>T (p.Gly1526=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216175301C= | CA1142185770 | USH2A | c.4578G= (p.Gly1526=) | |
| 1 | g.216175301C>G | CA423430859 | USH2A | c.4578G>C (p.Gly1526=) | |
| 1 | g.216175301C>T | CA423430860 | USH2A | c.4578G>A (p.Gly1526=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216175303dup | CA2747733542 | USH2A | c.4578dup (p.Tyr1527ValfsTer3) | |
| 1 | g.216175302C>A | CA344863604 | USH2A | c.4577G>T (p.Gly1526Val) | ClinVar |
| 1 | g.216175302C>G | CA344863605 | USH2A | c.4577G>C (p.Gly1526Ala) | |
| 1 | g.216175302C>T | CA344863606 | USH2A | c.4577G>A (p.Gly1526Glu) | |
| 1 | g.216175303C>A | CA344863607 | USH2A | c.4576G>T (p.Gly1526Trp) | |
| 1 | g.216175303C= | CA1220588021 | USH2A | c.4576G= (p.Gly1526=) | |
| 1 | g.216175303C>G | CA344863608 | USH2A | c.4576G>C (p.Gly1526Arg) | |
| 1 | g.216175303C>T | CA1395688 | USH2A | c.4576G>A (p.Gly1526Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216175304A= | CA1220588025 | USH2A | c.4575T= (p.Asn1525=) | |
| 1 | g.216175304A>C | CA344863609 | USH2A | c.4575T>G (p.Asn1525Lys) | dbSNP |
| 1 | g.216175304A>G | CA423430861 | USH2A | c.4575T>C (p.Asn1525=) | gnomAD v4 |
| 1 | g.216175304A>T | CA344863610 | USH2A | c.4575T>A (p.Asn1525Lys) | |
| 1 | g.216175305T>A | CA344863611 | USH2A | c.4574A>T (p.Asn1525Ile) | |
| 1 | g.216175305T>C | CA344863612 | USH2A | c.4574A>G (p.Asn1525Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216175305T>G | CA344863613 | USH2A | c.4574A>C (p.Asn1525Thr) | |
| 1 | g.216175305T= | CA1220588027 | USH2A | c.4574A= (p.Asn1525=) | |
| 1 | g.216175306T>A | CA344863614 | USH2A | c.4573A>T (p.Asn1525Tyr) | |
| 1 | g.216175306T>C | CA344863615 | USH2A | c.4573A>G (p.Asn1525Asp) | |
| 1 | g.216175306T>G | CA344863616 | USH2A | c.4573A>C (p.Asn1525His) | |
| 1 | g.216175307T>A | CA423430864 | USH2A | c.4572A>T (p.Gly1524=) | |
| 1 | g.216175307T>C | CA423430863 | USH2A | c.4572A>G (p.Gly1524=) | |
| 1 | g.216175307T>G | CA423430862 | USH2A | c.4572A>C (p.Gly1524=) | dbSNP |
| 1 | g.216175307T= | CA1220588029 | USH2A | c.4572A= (p.Gly1524=) | |
| 1 | g.216175308C>A | CA344863618 | USH2A | c.4571G>T (p.Gly1524Val) | |
| 1 | g.216175308C= | CA1220588032 | USH2A | c.4571G= (p.Gly1524=) | |
| 1 | g.216175308C>G | CA344863617 | USH2A | c.4571G>C (p.Gly1524Ala) | |
| 1 | g.216175308C>T | CA37492723 | USH2A | c.4571G>A (p.Gly1524Glu) | dbSNP COSMIC COSMIC COSMIC |
| 1 | g.216175309C>A | CA344863619 | USH2A | c.4570G>T (p.Gly1524Ter) | COSMIC COSMIC COSMIC |
| 1 | g.216175309C>G | CA344863620 | USH2A | c.4570G>C (p.Gly1524Arg) | |
| 1 | g.216175309C>T | CA344863621 | USH2A | c.4570G>A (p.Gly1524Arg) | COSMIC COSMIC COSMIC |
| 1 | g.216175310T>A | CA423430865 | USH2A | c.4569A>T (p.Ile1523=) | |
| 1 | g.216175310T>C | CA344863622 | USH2A | c.4569A>G (p.Ile1523Met) | |
| 1 | g.216175310T>G | CA423430866 | USH2A | c.4569A>C (p.Ile1523=) | |
| 1 | g.216175311A= | CA1220588035 | USH2A | c.4568T= (p.Ile1523=) | |
| 1 | g.216175311A>C | CA344863623 | USH2A | c.4568T>G (p.Ile1523Arg) | |
| 1 | g.216175311A>G | CA1395689 | USH2A | c.4568T>C (p.Ile1523Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216175311A>T | CA344863624 | USH2A | c.4568T>A (p.Ile1523Lys) | |
| 1 | g.216175312T>A | CA344863626 | USH2A | c.4567A>T (p.Ile1523Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216175312T>C | CA37492724 | USH2A | c.4567A>G (p.Ile1523Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216175312T>G | CA344863625 | USH2A | c.4567A>C (p.Ile1523Leu) | |
| 1 | g.216175312T= | CA1220588037 | USH2A | c.4567A= (p.Ile1523=) | |
| 1 | g.216175313G>A | CA423430867 | USH2A | c.4566C>T (p.Phe1522=) | ClinVar |
| 1 | g.216175313G>C | CA344863627 | USH2A | c.4566C>G (p.Phe1522Leu) | |
| 1 | g.216175313G>T | CA344863628 | USH2A | c.4566C>A (p.Phe1522Leu) | |
| 1 | g.216175314A>C | CA344863629 | USH2A | c.4565T>G (p.Phe1522Cys) | |
| 1 | g.216175314A>G | CA344863630 | USH2A | c.4565T>C (p.Phe1522Ser) | |
| 1 | g.216175314A>T | CA344863631 | USH2A | c.4565T>A (p.Phe1522Tyr) | |
| 1 | g.216175316dup | CA2573130631 | USH2A | c.4565dup (p.Ile1523HisfsTer7) | ClinVar dbSNP |
| 1 | g.216175315A>C | CA344863632 | USH2A | c.4564T>G (p.Phe1522Val) | |
| 1 | g.216175315A>G | CA344863634 | USH2A | c.4564T>C (p.Phe1522Leu) | |
| 1 | g.216175315A>T | CA344863633 | USH2A | c.4564T>A (p.Phe1522Ile) | |
| 1 | g.216175316A>C | CA423430868 | USH2A | c.4563T>G (p.Arg1521=) | |
| 1 | g.216175316A>G | CA423430869 | USH2A | c.4563T>C (p.Arg1521=) | |
| 1 | g.216175316A>T | CA423430870 | USH2A | c.4563T>A (p.Arg1521=) | |
| 1 | g.216175317C>A | CA344863635 | USH2A | c.4562G>T (p.Arg1521Leu) | |
| 1 | g.216175317C= | CA1220588044 | USH2A | c.4562G= (p.Arg1521=) | |
| 1 | g.216175317C>G | CA1395691 | USH2A | c.4562G>C (p.Arg1521Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216175317C>T | CA1395690 | USH2A | c.4562G>A (p.Arg1521His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216175318G>A | CA1395692 | USH2A | c.4561C>T (p.Arg1521Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216175318G>C | CA344863636 | USH2A | c.4561C>G (p.Arg1521Gly) | |
| 1 | g.216175318G= | CA1220588049 | USH2A | c.4561C= (p.Arg1521=) | |
| 1 | g.216175318G>T | CA344863637 | USH2A | c.4561C>A (p.Arg1521Ser) | |
| 1 | g.216175319G>A | CA143488 | USH2A | c.4560C>T (p.Ile1520=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216175319G>C | CA344863638 | USH2A | c.4560C>G (p.Ile1520Met) | |
| 1 | g.216175319G= | CA1142213558 | USH2A | c.4560C= (p.Ile1520=) | |
| 1 | g.216175319G>T | CA423430871 | USH2A | c.4560C>A (p.Ile1520=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216175320A= | CA1148224991 | USH2A | c.4559T= (p.Ile1520=) | |
| 1 | g.216175320A>C | CA344863639 | USH2A | c.4559T>G (p.Ile1520Ser) | |
| 1 | g.216175320A>G | CA344863640 | USH2A | c.4559T>C (p.Ile1520Thr) | |
| 1 | g.216175320A>T | CA179563 | USH2A | c.4559T>A (p.Ile1520Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216175321T>A | CA344863641 | USH2A | c.4558A>T (p.Ile1520Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216175321T>C | CA344863642 | USH2A | c.4558A>G (p.Ile1520Val) | |
| 1 | g.216175321T>G | CA1395693 | USH2A | c.4558A>C (p.Ile1520Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216175321T= | CA1220588063 | USH2A | c.4558A= (p.Ile1520=) | |
| 1 | g.216175323_216175326dup | CA1220588062 | USH2A | c.4555_4558dup (p.Ile1520ArgfsTer11) | dbSNP |
| 1 | g.216175322T>A | CA423430874 | USH2A | c.4557A>T (p.Gly1519=) | gnomAD v4 |
| 1 | g.216175322T>C | CA423430873 | USH2A | c.4557A>G (p.Gly1519=) | |
| 1 | g.216175322T>G | CA423430872 | USH2A | c.4557A>C (p.Gly1519=) | |
| 1 | g.216175323C>A | CA344863643 | USH2A | c.4556G>T (p.Gly1519Val) | |
| 1 | g.216175323C= | CA1220588066 | USH2A | c.4556G= (p.Gly1519=) | |
| 1 | g.216175323C>G | CA344863644 | USH2A | c.4556G>C (p.Gly1519Ala) | |
| 1 | g.216175323C>T | CA1395694 | USH2A | c.4556G>A (p.Gly1519Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216175324C>A | CA344863645 | USH2A | c.4555G>T (p.Gly1519Ter) | |
| 1 | g.216175324C>G | CA344863646 | USH2A | c.4555G>C (p.Gly1519Arg) | |
| 1 | g.216175324C>T | CA344863647 | USH2A | c.4555G>A (p.Gly1519Arg) | gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216175325T>A | CA344863648 | USH2A | c.4554A>T (p.Lys1518Asn) | |
| 1 | g.216175325T>C | CA423430875 | USH2A | c.4554A>G (p.Lys1518=) | |
| 1 | g.216175325T>G | CA344863649 | USH2A | c.4554A>C (p.Lys1518Asn) | |
| 1 | g.216175326T>A | CA344863650 | USH2A | c.4553A>T (p.Lys1518Ile) | |
| 1 | g.216175326T>C | CA344863651 | USH2A | c.4553A>G (p.Lys1518Arg) | |
| 1 | g.216175326T>G | CA344863652 | USH2A | c.4553A>C (p.Lys1518Thr) | |
| 1 | g.216175327T>A | CA344863653 | USH2A | c.4552A>T (p.Lys1518Ter) | |
| 1 | g.216175327T>C | CA344863654 | USH2A | c.4552A>G (p.Lys1518Glu) | |
| 1 | g.216175327T>G | CA344863655 | USH2A | c.4552A>C (p.Lys1518Gln) | |
| 1 | g.216175327_216175328insA | CA2532806362 | USH2A | c.4551_4552insT (p.Lys1518Ter) | |
| 1 | g.216175328C>A | CA344863658 | USH2A | c.4551G>T (p.Met1517Ile) | |
| 1 | g.216175328C>G | CA344863657 | USH2A | c.4551G>C (p.Met1517Ile) | |
| 1 | g.216175328C>T | CA344863656 | USH2A | c.4551G>A (p.Met1517Ile) | |
| 1 | g.216175329A>C | CA344863659 | USH2A | c.4550T>G (p.Met1517Arg) | |
| 1 | g.216175329A>G | CA344863660 | USH2A | c.4550T>C (p.Met1517Thr) | |
| 1 | g.216175329A>T | CA344863661 | USH2A | c.4550T>A (p.Met1517Lys) | |
| 1 | g.216175329_216175330insATGAATTTTTA | CA2502121361 | USH2A | c.4550_4551insAAAAATTCATT (p.Met1517IlefsTer5) | |
| 1 | g.216175330T>A | CA344863662 | USH2A | c.4549A>T (p.Met1517Leu) | |
| 1 | g.216175330T>C | CA37492752 | USH2A | c.4549A>G (p.Met1517Val) | dbSNP |
| 1 | g.216175330T>G | CA344863663 | USH2A | c.4549A>C (p.Met1517Leu) | |
| 1 | g.216175330T= | CA1220588069 | USH2A | c.4549A= (p.Met1517=) | |
| 1 | g.216175331C>A | CA344863664 | USH2A | c.4548G>T (p.Met1516Ile) | |
| 1 | g.216175331C= | CA1220588072 | USH2A | c.4548G= (p.Met1516=) | |
| 1 | g.216175331C>G | CA344863665 | USH2A | c.4548G>C (p.Met1516Ile) | |
| 1 | g.216175331C>T | CA37492758 | USH2A | c.4548G>A (p.Met1516Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216175332A>C | CA344863666 | USH2A | c.4547T>G (p.Met1516Arg) | |
| 1 | g.216175332A>G | CA344863667 | USH2A | c.4547T>C (p.Met1516Thr) | |
| 1 | g.216175332A>T | CA344863668 | USH2A | c.4547T>A (p.Met1516Lys) | |
| 1 | g.216175333T>A | CA344863671 | USH2A | c.4546A>T (p.Met1516Leu) | |
| 1 | g.216175333T>C | CA344863670 | USH2A | c.4546A>G (p.Met1516Val) | gnomAD v4 |
| 1 | g.216175333T>G | CA344863669 | USH2A | c.4546A>C (p.Met1516Leu) | |
| 1 | g.216175334C>A | CA423430878 | USH2A | c.4545G>T (p.Thr1515=) | ClinVar dbSNP |
| 1 | g.216175334C= | CA1220588074 | USH2A | c.4545G= (p.Thr1515=) | |
| 1 | g.216175334C>G | CA423430879 | USH2A | c.4545G>C (p.Thr1515=) | gnomAD v4 |
| 1 | g.216175334C>T | CA423430880 | USH2A | c.4545G>A (p.Thr1515=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216175335G>A | CA1395695 | USH2A | c.4544C>T (p.Thr1515Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216175335G>C | CA344863672 | USH2A | c.4544C>G (p.Thr1515Arg) | gnomAD v4 |
| 1 | g.216175335G= | CA1143939452 | USH2A | c.4544C= (p.Thr1515=) | |
| 1 | g.216175335G>T | CA344863673 | USH2A | c.4544C>A (p.Thr1515Lys) | |
| 1 | g.216175336T>A | CA344863674 | USH2A | c.4543A>T (p.Thr1515Ser) | |
| 1 | g.216175336T>C | CA182774 | USH2A | c.4543A>G (p.Thr1515Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216175336T>G | CA344863675 | USH2A | c.4543A>C (p.Thr1515Pro) | |
| 1 | g.216175336T= | CA1141819333 | USH2A | c.4543A= (p.Thr1515=) | |
| 1 | g.216175337G>A | CA1395696 | USH2A | c.4542C>T (p.Thr1514=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216175337G>C | CA423430882 | USH2A | c.4542C>G (p.Thr1514=) | |
| 1 | g.216175337G= | CA1220588083 | USH2A | c.4542C= (p.Thr1514=) | |
| 1 | g.216175337G>T | CA423430883 | USH2A | c.4542C>A (p.Thr1514=) | |
| 1 | g.216175338G>A | CA1395697 | USH2A | c.4541C>T (p.Thr1514Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216175338G>C | CA344863676 | USH2A | c.4541C>G (p.Thr1514Ser) | gnomAD v4 |
| 1 | g.216175338G= | CA1220588085 | USH2A | c.4541C= (p.Thr1514=) | |
| 1 | g.216175338G>T | CA344863677 | USH2A | c.4541C>A (p.Thr1514Asn) | gnomAD v4 |
| 1 | g.216175339T>A | CA344863678 | USH2A | c.4540A>T (p.Thr1514Ser) | |
| 1 | g.216175339T>C | CA344863679 | USH2A | c.4540A>G (p.Thr1514Ala) | COSMIC COSMIC COSMIC |
| 1 | g.216175339T>G | CA344863680 | USH2A | c.4540A>C (p.Thr1514Pro) | |
| 1 | g.216175340C>A | CA344863683 | USH2A | c.4539G>T (p.Met1513Ile) | |
| 1 | g.216175340C>G | CA344863681 | USH2A | c.4539G>C (p.Met1513Ile) | |
| 1 | g.216175340C>T | CA344863682 | USH2A | c.4539G>A (p.Met1513Ile) | |
| 1 | g.216175341A= | CA1220588088 | USH2A | c.4538T= (p.Met1513=) | |
| 1 | g.216175341A>C | CA344863684 | USH2A | c.4538T>G (p.Met1513Arg) | dbSNP |
| 1 | g.216175341A>G | CA344863685 | USH2A | c.4538T>C (p.Met1513Thr) | |
| 1 | g.216175341A>T | CA344863686 | USH2A | c.4538T>A (p.Met1513Lys) | |
| 1 | g.216175341_216175342delinsAT | CA1220588089 | USH2A | c.4537_4538delinsAT (p.Met1513=) | |
| 1 | g.216175342del | CA529002633 | USH2A | c.4537del (p.Met1513Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216175342T>A | CA344863687 | USH2A | c.4537A>T (p.Met1513Leu) | |
| 1 | g.216175342T>C | CA344863688 | USH2A | c.4537A>G (p.Met1513Val) | |
| 1 | g.216175342T>G | CA344863689 | USH2A | c.4537A>C (p.Met1513Leu) | |
| 1 | g.216175343C>A | CA423430886 | USH2A | c.4536G>T (p.Leu1512=) | |
| 1 | g.216175343C>G | CA423430888 | USH2A | c.4536G>C (p.Leu1512=) | |
| 1 | g.216175343C>T | CA423430887 | USH2A | c.4536G>A (p.Leu1512=) | gnomAD v4 |
| 1 | g.216175344A= | CA1220588092 | USH2A | c.4535T= (p.Leu1512=) | |
| 1 | g.216175344A>C | CA344863690 | USH2A | c.4535T>G (p.Leu1512Arg) | |
| 1 | g.216175344A>G | CA344863691 | USH2A | c.4535T>C (p.Leu1512Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216175344A>T | CA344863692 | USH2A | c.4535T>A (p.Leu1512Gln) | gnomAD v4 |
| 1 | g.216175345G>A | CA423430889 | USH2A | c.4534C>T (p.Leu1512=) | gnomAD v4 |
| 1 | g.216175345G>C | CA344863693 | USH2A | c.4534C>G (p.Leu1512Val) | |
| 1 | g.216175345G>T | CA344863694 | USH2A | c.4534C>A (p.Leu1512Met) | |
| 1 | g.216175346A>C | CA423430890 | USH2A | c.4533T>G (p.Ala1511=) | |
| 1 | g.216175346A>G | CA423430892 | USH2A | c.4533T>C (p.Ala1511=) | |
| 1 | g.216175346A>T | CA423430893 | USH2A | c.4533T>A (p.Ala1511=) | |
| 1 | g.216175347G>A | CA143485 | USH2A | c.4532C>T (p.Ala1511Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216175347G>C | CA344863696 | USH2A | c.4532C>G (p.Ala1511Gly) | |
| 1 | g.216175347G= | CA1143500410 | USH2A | c.4532C= (p.Ala1511=) | |
| 1 | g.216175347G>T | CA344863695 | USH2A | c.4532C>A (p.Ala1511Asp) | |
| 1 | g.216175348C>A | CA344863697 | USH2A | c.4531G>T (p.Ala1511Ser) | |
| 1 | g.216175348C>G | CA344863698 | USH2A | c.4531G>C (p.Ala1511Pro) | |
| 1 | g.216175348C>T | CA344863699 | USH2A | c.4531G>A (p.Ala1511Thr) | COSMIC COSMIC COSMIC |
| 1 | g.216175349T>A | CA423430895 | USH2A | c.4530A>T (p.Pro1510=) | |
| 1 | g.216175349T>C | CA1395698 | USH2A | c.4530A>G (p.Pro1510=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216175349T>G | CA423430897 | USH2A | c.4530A>C (p.Pro1510=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216175349T= | CA1220588097 | USH2A | c.4530A= (p.Pro1510=) | |
| 1 | g.216175350G>A | CA344863700 | USH2A | c.4529C>T (p.Pro1510Leu) | |
| 1 | g.216175350G>C | CA344863701 | USH2A | c.4529C>G (p.Pro1510Arg) | |
| 1 | g.216175350G>T | CA344863702 | USH2A | c.4529C>A (p.Pro1510Gln) | |
| 1 | g.216175351G>A | CA344863705 | USH2A | c.4528C>T (p.Pro1510Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216175351G>C | CA344863703 | USH2A | c.4528C>G (p.Pro1510Ala) | gnomAD v4 |
| 1 | g.216175351G= | CA1220588103 | USH2A | c.4528C= (p.Pro1510=) | |
| 1 | g.216175351G>T | CA344863704 | USH2A | c.4528C>A (p.Pro1510Thr) | gnomAD v4 |
| 1 | g.216175352T>A | CA423430898 | USH2A | c.4527A>T (p.Leu1509=) | gnomAD v4 |
| 1 | g.216175352T>C | CA423430899 | USH2A | c.4527A>G (p.Leu1509=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216175352T>G | CA423430900 | USH2A | c.4527A>C (p.Leu1509=) | |
| 1 | g.216175352T= | CA1220588104 | USH2A | c.4527A= (p.Leu1509=) | |
| 1 | g.216175353A>C | CA344863706 | USH2A | c.4526T>G (p.Leu1509Arg) | |
| 1 | g.216175353A>G | CA344863707 | USH2A | c.4526T>C (p.Leu1509Pro) | |
| 1 | g.216175353A>T | CA344863708 | USH2A | c.4526T>A (p.Leu1509Gln) | |
| 1 | g.216175354G>A | CA37492777 | USH2A | c.4525C>T (p.Leu1509=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216175354G>C | CA344863709 | USH2A | c.4525C>G (p.Leu1509Val) | COSMIC COSMIC COSMIC |
| 1 | g.216175354G= | CA1220588107 | USH2A | c.4525C= (p.Leu1509=) | |
| 1 | g.216175354G>T | CA344863710 | USH2A | c.4525C>A (p.Leu1509Ile) | |
| 1 | g.216175355A>C | CA423430902 | USH2A | c.4524T>G (p.Ser1508=) | |
| 1 | g.216175355A>G | CA423430903 | USH2A | c.4524T>C (p.Ser1508=) | |
| 1 | g.216175355A>T | CA423430904 | USH2A | c.4524T>A (p.Ser1508=) | |
| 1 | g.216175356G>A | CA344863711 | USH2A | c.4523C>T (p.Ser1508Phe) | dbSNP |
| 1 | g.216175356G>C | CA344863713 | USH2A | c.4523C>G (p.Ser1508Cys) | dbSNP |
| 1 | g.216175356G= | CA1220588109 | USH2A | c.4523C= (p.Ser1508=) | |
| 1 | g.216175356G>T | CA344863712 | USH2A | c.4523C>A (p.Ser1508Tyr) | |
| 1 | g.216175357A= | CA1220588114 | USH2A | c.4522T= (p.Ser1508=) | |
| 1 | g.216175357A>C | CA344863714 | USH2A | c.4522T>G (p.Ser1508Ala) | |
| 1 | g.216175357A>G | CA344863715 | USH2A | c.4522T>C (p.Ser1508Pro) | |
| 1 | g.216175357A>T | CA344863716 | USH2A | c.4522T>A (p.Ser1508Thr) | |
| 1 | g.216175358T>A | CA423430907 | USH2A | c.4521A>T (p.Ser1507=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216175358T>C | CA423430906 | USH2A | c.4521A>G (p.Ser1507=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216175358T>G | CA423430905 | USH2A | c.4521A>C (p.Ser1507=) | |
| 1 | g.216175358T= | CA1220588120 | USH2A | c.4521A= (p.Ser1507=) | |
| 1 | g.216175362_216175363insGTGACT | CA915942013 | USH2A | c.4521_4522insCAGTCA (p.Ser1507_Ser1508insGlnSer) | ClinVar dbSNP |
| 1 | g.216175359G>A | CA344863717 | USH2A | c.4520C>T (p.Ser1507Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216175359G>C | CA344863718 | USH2A | c.4520C>G (p.Ser1507Ter) | |
| 1 | g.216175359G= | CA1220588124 | USH2A | c.4520C= (p.Ser1507=) | |
| 1 | g.216175359G>T | CA344863719 | USH2A | c.4520C>A (p.Ser1507Ter) | gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216175360A= | CA1220588130 | USH2A | c.4519T= (p.Ser1507=) | |
| 1 | g.216175360A>C | CA344863720 | USH2A | c.4519T>G (p.Ser1507Ala) | |
| 1 | g.216175360A>G | CA344863721 | USH2A | c.4519T>C (p.Ser1507Pro) | |
| 1 | g.216175360A>T | CA344863722 | USH2A | c.4519T>A (p.Ser1507Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216175360_216175362delinsACT | CA1220588128 | USH2A | c.4517_4519delinsAGT (p.Glu1506=) | |
| 1 | g.216175361C>A | CA344863723 | USH2A | c.4518G>T (p.Glu1506Asp) | |
| 1 | g.216175361C>G | CA344863724 | USH2A | c.4518G>C (p.Glu1506Asp) | |
| 1 | g.216175361C>T | CA423430942 | USH2A | c.4518G>A (p.Glu1506=) | |
| 1 | g.216175366_216175367del | CA37492780 | USH2A | c.4517_4518del (p.Glu1506ValfsTer23) | dbSNP |
| 1 | g.216175364_216175367del | CA2586968253 | USH2A | c.4515_4518del (p.Arg1505SerfsTer7) | |
| 1 | g.216175362T>A | CA344863725 | USH2A | c.4517A>T (p.Glu1506Val) | dbSNP gnomAD v4 |
| 1 | g.216175362T>C | CA1395699 | USH2A | c.4517A>G (p.Glu1506Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216175362T>G | CA344863726 | USH2A | c.4517A>C (p.Glu1506Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216175362T= | CA1220588137 | USH2A | c.4517A= (p.Glu1506=) | |
| 1 | g.216175363C>A | CA344863727 | USH2A | c.4516G>T (p.Glu1506Ter) | COSMIC COSMIC COSMIC |
| 1 | g.216175363C= | CA1220588145 | USH2A | c.4516G= (p.Glu1506=) | |
| 1 | g.216175363C>G | CA344863728 | USH2A | c.4516G>C (p.Glu1506Gln) | dbSNP |
| 1 | g.216175363C>T | CA344863729 | USH2A | c.4516G>A (p.Glu1506Lys) | COSMIC COSMIC COSMIC |
| 1 | g.216175364T>A | CA344863730 | USH2A | c.4515A>T (p.Arg1505Ser) | |
| 1 | g.216175364T>C | CA423430953 | USH2A | c.4515A>G (p.Arg1505=) | |
| 1 | g.216175364T>G | CA344863731 | USH2A | c.4515A>C (p.Arg1505Ser) | |
| 1 | g.216175365C>A | CA344863732 | USH2A | c.4514G>T (p.Arg1505Ile) | |
| 1 | g.216175365C= | CA1220588148 | USH2A | c.4514G= (p.Arg1505=) | |
| 1 | g.216175365C>G | CA344863733 | USH2A | c.4514G>C (p.Arg1505Thr) | |
| 1 | g.216175365C>T | CA344863734 | USH2A | c.4514G>A (p.Arg1505Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216175366T>A | CA344863735 | USH2A | c.4513A>T (p.Arg1505Ter) | |
| 1 | g.216175366T>C | CA344863736 | USH2A | c.4513A>G (p.Arg1505Gly) | |
| 1 | g.216175366T>G | CA423430957 | USH2A | c.4513A>C (p.Arg1505=) | |
| 1 | g.216175367C>A | CA344863737 | USH2A | c.4512G>T (p.Arg1504Ser) | |
| 1 | g.216175367C>G | CA344863738 | USH2A | c.4512G>C (p.Arg1504Ser) | |
| 1 | g.216175367C>T | CA423430961 | USH2A | c.4512G>A (p.Arg1504=) | ClinVar gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216175368C>A | CA344863741 | USH2A | c.4511G>T (p.Arg1504Met) | dbSNP gnomAD v4 |
| 1 | g.216175368C= | CA1220588150 | USH2A | c.4511G= (p.Arg1504=) | |
| 1 | g.216175368C>G | CA344863739 | USH2A | c.4511G>C (p.Arg1504Thr) | |
| 1 | g.216175368C>T | CA344863740 | USH2A | c.4511G>A (p.Arg1504Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216175369T>A | CA344863742 | USH2A | c.4510A>T (p.Arg1504Trp) | |
| 1 | g.216175369T>C | CA344863743 | USH2A | c.4510A>G (p.Arg1504Gly) | ClinVar |
| 1 | g.216175369T>G | CA423430966 | USH2A | c.4510A>C (p.Arg1504=) | |
| 1 | g.216175369_216175371delinsTTT | CA1148224993 | USH2A | c.4508_4510delinsAAA (p.Glu1503=) | |
| 1 | g.216175371dup | CA273289 | USH2A | c.4510dup (p.Arg1504LysfsTer26) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216175370T>A | CA344863744 | USH2A | c.4509A>T (p.Glu1503Asp) | |
| 1 | g.216175370T>C | CA423430968 | USH2A | c.4509A>G (p.Glu1503=) | ClinVar gnomAD v4 |
| 1 | g.216175370T>G | CA344863745 | USH2A | c.4509A>C (p.Glu1503Asp) | |
| 1 | g.216175371T>A | CA344863746 | USH2A | c.4508A>T (p.Glu1503Val) | |
| 1 | g.216175371T>C | CA37492794 | USH2A | c.4508A>G (p.Glu1503Gly) | dbSNP |
| 1 | g.216175371T>G | CA344863747 | USH2A | c.4508A>C (p.Glu1503Ala) | |
| 1 | g.216175371T= | CA1220588160 | USH2A | c.4508A= (p.Glu1503=) | |
| 1 | g.216175372C>A | CA344863748 | USH2A | c.4507G>T (p.Glu1503Ter) | gnomAD v4 |
| 1 | g.216175372C= | CA1220588162 | USH2A | c.4507G= (p.Glu1503=) | |
| 1 | g.216175372C>G | CA344863749 | USH2A | c.4507G>C (p.Glu1503Gln) | |
| 1 | g.216175372C>T | CA344863750 | USH2A | c.4507G>A (p.Glu1503Lys) | dbSNP gnomAD v4 |
| 1 | g.216175373C>A | CA423430970 | USH2A | c.4506G>T (p.Leu1502=) | |
| 1 | g.216175373C>G | CA423430971 | USH2A | c.4506G>C (p.Leu1502=) | |
| 1 | g.216175373C>T | CA423430972 | USH2A | c.4506G>A (p.Leu1502=) | gnomAD v4 |
| 1 | g.216175374A>C | CA344863751 | USH2A | c.4505T>G (p.Leu1502Arg) | |
| 1 | g.216175374A>G | CA344863753 | USH2A | c.4505T>C (p.Leu1502Pro) | |
| 1 | g.216175374A>T | CA344863752 | USH2A | c.4505T>A (p.Leu1502Gln) | |
| 1 | g.216175375G>A | CA423430976 | USH2A | c.4504C>T (p.Leu1502=) | |
| 1 | g.216175375G>C | CA344863754 | USH2A | c.4504C>G (p.Leu1502Val) | |
| 1 | g.216175375G>T | CA344863755 | USH2A | c.4504C>A (p.Leu1502Met) | |
| 1 | g.216175376C>A | CA344863756 | USH2A | c.4503G>T (p.Gln1501His) | dbSNP |
| 1 | g.216175376C= | CA1220588163 | USH2A | c.4503G= (p.Gln1501=) | |
| 1 | g.216175376C>G | CA344863757 | USH2A | c.4503G>C (p.Gln1501His) | |
| 1 | g.216175376C>T | CA423430977 | USH2A | c.4503G>A (p.Gln1501=) | COSMIC |
| 1 | g.216175377T>A | CA344863758 | USH2A | c.4502A>T (p.Gln1501Leu) | |
| 1 | g.216175377T>C | CA344863759 | USH2A | c.4502A>G (p.Gln1501Arg) | dbSNP gnomAD v4 |
| 1 | g.216175377T>G | CA344863760 | USH2A | c.4502A>C (p.Gln1501Pro) | |
| 1 | g.216175377T= | CA1220588166 | USH2A | c.4502A= (p.Gln1501=) | |
| 1 | g.216175378G>A | CA344863761 | USH2A | c.4501C>T (p.Gln1501Ter) | |
| 1 | g.216175378G>C | CA344863762 | USH2A | c.4501C>G (p.Gln1501Glu) | dbSNP |
| 1 | g.216175378G= | CA1220588171 | USH2A | c.4501C= (p.Gln1501=) | |
| 1 | g.216175378G>T | CA344863763 | USH2A | c.4501C>A (p.Gln1501Lys) |