SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow 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.215673953_215675415del | CA1139656543 | USH2A | c.12497_13811+148del | ClinVar |
| 1 | g.215675165_215675169del | CA2580062254 | USH2A | c.12743_12747del (p.His4248LeufsTer2) | ClinVar gnomAD v4 |
| 1 | g.215675166T>A | CA344849415 | USH2A | c.12745A>T (p.Thr4249Ser) | |
| 1 | g.215675166T>C | CA344849418 | USH2A | c.12745A>G (p.Thr4249Ala) | |
| 1 | g.215675166T>G | CA344849428 | USH2A | c.12745A>C (p.Thr4249Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215675166T= | CA1220373836 | USH2A | c.12745A= (p.Thr4249=) | |
| 1 | g.215675167A>C | CA344849434 | USH2A | c.12744T>G (p.His4248Gln) | |
| 1 | g.215675167A>G | CA423427938 | USH2A | c.12744T>C (p.His4248=) | |
| 1 | g.215675167A>T | CA344849437 | USH2A | c.12744T>A (p.His4248Gln) | |
| 1 | g.215675167_215675172delinsATGCCC | CA1220373837 | USH2A | c.12739_12744delinsGGGCAT (p.Gly4247=) | |
| 1 | g.215675168T>A | CA1393415 | USH2A | c.12743A>T (p.His4248Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675168T>C | CA143302 | USH2A | c.12743A>G (p.His4248Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675168T>G | CA344849443 | USH2A | c.12743A>C (p.His4248Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215675168T= | CA1142078794 | USH2A | c.12743A= (p.His4248=) | |
| 1 | g.215675168_215675172del | CA731336904 | USH2A | c.12739_12743del (p.Gly4247TyrfsTer3) | dbSNP |
| 1 | g.215675169G>A | CA344849447 | USH2A | c.12742C>T (p.His4248Tyr) | |
| 1 | g.215675169G>C | CA344849449 | USH2A | c.12742C>G (p.His4248Asp) | |
| 1 | g.215675169G= | CA1143842540 | USH2A | c.12742C= (p.His4248=) | |
| 1 | g.215675169G>T | CA37412952 | USH2A | c.12742C>A (p.His4248Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215675170C>A | CA423427950 | USH2A | c.12741G>T (p.Gly4247=) | ClinVar dbSNP |
| 1 | g.215675170C= | CA1220373838 | USH2A | c.12741G= (p.Gly4247=) | |
| 1 | g.215675170C>G | CA1393416 | USH2A | c.12741G>C (p.Gly4247=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215675170C>T | CA423427955 | USH2A | c.12741G>A (p.Gly4247=) | dbSNP gnomAD v2 |
| 1 | g.215675171C>A | CA344849457 | USH2A | c.12740G>T (p.Gly4247Val) | |
| 1 | g.215675171C>G | CA344849459 | USH2A | c.12740G>C (p.Gly4247Ala) | |
| 1 | g.215675171C>T | CA344849461 | USH2A | c.12740G>A (p.Gly4247Glu) | gnomAD v4 |
| 1 | g.215675172C>A | CA344849465 | USH2A | c.12739G>T (p.Gly4247Trp) | COSMIC COSMIC |
| 1 | g.215675172C= | CA1144229168 | USH2A | c.12739G= (p.Gly4247=) | |
| 1 | g.215675172C>G | CA344849468 | USH2A | c.12739G>C (p.Gly4247Arg) | |
| 1 | g.215675172C>T | CA262080 | USH2A | c.12739G>A (p.Gly4247Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675173A= | CA1220373839 | USH2A | c.12738T= (p.Ala4246=) | |
| 1 | g.215675173A>C | CA423427958 | USH2A | c.12738T>G (p.Ala4246=) | |
| 1 | g.215675173A>G | CA423427961 | USH2A | c.12738T>C (p.Ala4246=) | |
| 1 | g.215675173A>T | CA37412958 | USH2A | c.12738T>A (p.Ala4246=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675173_215675174delinsAG | CA1220373840 | USH2A | c.12737_12738delinsCT (p.Ala4246=) | |
| 1 | g.215675173_215675174delinsCC | CA658822644 | USH2A | c.12737_12738delinsGG (p.Ala4246Gly) | ClinVar dbSNP |
| 1 | g.215675174G>A | CA1393417 | USH2A | c.12737C>T (p.Ala4246Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675174G>C | CA344849473 | USH2A | c.12737C>G (p.Ala4246Gly) | |
| 1 | g.215675174G= | CA1220373841 | USH2A | c.12737C= (p.Ala4246=) | |
| 1 | g.215675174G>T | CA344849477 | USH2A | c.12737C>A (p.Ala4246Asp) | ClinVar |
| 1 | g.215675175C>A | CA1393418 | USH2A | c.12736G>T (p.Ala4246Ser) | dbSNP ExAC gnomAD v2 |
| 1 | g.215675175C= | CA1220373842 | USH2A | c.12736G= (p.Ala4246=) | |
| 1 | g.215675175C>G | CA344849483 | USH2A | c.12736G>C (p.Ala4246Pro) | |
| 1 | g.215675175C>T | CA344849480 | USH2A | c.12736G>A (p.Ala4246Thr) | |
| 1 | g.215675176T>A | CA423427966 | USH2A | c.12735A>T (p.Ser4245=) | |
| 1 | g.215675176T>C | CA423427968 | USH2A | c.12735A>G (p.Ser4245=) | |
| 1 | g.215675176T>G | CA423427971 | USH2A | c.12735A>C (p.Ser4245=) | |
| 1 | g.215675177G>A | CA344849485 | USH2A | c.12734C>T (p.Ser4245Leu) | |
| 1 | g.215675177G>C | CA344849490 | USH2A | c.12734C>G (p.Ser4245Ter) | |
| 1 | g.215675177G>T | CA344849497 | USH2A | c.12734C>A (p.Ser4245Ter) | |
| 1 | g.215675178A>C | CA344849502 | USH2A | c.12733T>G (p.Ser4245Ala) | |
| 1 | g.215675178A>G | CA344849503 | USH2A | c.12733T>C (p.Ser4245Pro) | |
| 1 | g.215675178A>T | CA344849507 | USH2A | c.12733T>A (p.Ser4245Thr) | |
| 1 | g.215675179A>C | CA344849508 | USH2A | c.12732T>G (p.Asn4244Lys) | |
| 1 | g.215675179A>G | CA423427978 | USH2A | c.12732T>C (p.Asn4244=) | |
| 1 | g.215675179A>T | CA344849511 | USH2A | c.12732T>A (p.Asn4244Lys) | |
| 1 | g.215675180T>A | CA344849512 | USH2A | c.12731A>T (p.Asn4244Ile) | |
| 1 | g.215675180T>C | CA344849513 | USH2A | c.12731A>G (p.Asn4244Ser) | COSMIC COSMIC |
| 1 | g.215675180T>G | CA344849514 | USH2A | c.12731A>C (p.Asn4244Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215675180T= | CA1220373843 | USH2A | c.12731A= (p.Asn4244=) | |
| 1 | g.215675181T>A | CA344849517 | USH2A | c.12730A>T (p.Asn4244Tyr) | |
| 1 | g.215675181T>C | CA344849516 | USH2A | c.12730A>G (p.Asn4244Asp) | |
| 1 | g.215675181T>G | CA344849515 | USH2A | c.12730A>C (p.Asn4244His) | ClinVar |
| 1 | g.215675182C>A | CA344849518 | USH2A | c.12729G>T (p.Trp4243Cys) | |
| 1 | g.215675182C>G | CA344849520 | USH2A | c.12729G>C (p.Trp4243Cys) | |
| 1 | g.215675182C>T | CA344849521 | USH2A | c.12729G>A (p.Trp4243Ter) | |
| 1 | g.215675183C>A | CA344849523 | USH2A | c.12728G>T (p.Trp4243Leu) | |
| 1 | g.215675183C>G | CA344849525 | USH2A | c.12728G>C (p.Trp4243Ser) | |
| 1 | g.215675183C>T | CA344849527 | USH2A | c.12728G>A (p.Trp4243Ter) | ClinVar dbSNP COSMIC COSMIC |
| 1 | g.215675184A>C | CA344849529 | USH2A | c.12727T>G (p.Trp4243Gly) | |
| 1 | g.215675184A>G | CA344849532 | USH2A | c.12727T>C (p.Trp4243Arg) | |
| 1 | g.215675184A>T | CA344849535 | USH2A | c.12727T>A (p.Trp4243Arg) | |
| 1 | g.215675185A= | CA1220373844 | USH2A | c.12726T= (p.Thr4242=) | |
| 1 | g.215675185A>C | CA423427994 | USH2A | c.12726T>G (p.Thr4242=) | |
| 1 | g.215675185A>G | CA423427997 | USH2A | c.12726T>C (p.Thr4242=) | ClinVar dbSNP |
| 1 | g.215675185A>T | CA423427995 | USH2A | c.12726T>A (p.Thr4242=) | |
| 1 | g.215675186G>A | CA344849538 | USH2A | c.12725C>T (p.Thr4242Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675186G>C | CA344849541 | USH2A | c.12725C>G (p.Thr4242Ser) | gnomAD v4 |
| 1 | g.215675186G= | CA1220373845 | USH2A | c.12725C= (p.Thr4242=) | |
| 1 | g.215675186G>T | CA344849546 | USH2A | c.12725C>A (p.Thr4242Asn) | |
| 1 | g.215675187T>A | CA344849562 | USH2A | c.12724A>T (p.Thr4242Ser) | |
| 1 | g.215675187T>C | CA37412961 | USH2A | c.12724A>G (p.Thr4242Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675187T>G | CA344849548 | USH2A | c.12724A>C (p.Thr4242Pro) | gnomAD v4 |
| 1 | g.215675187T= | CA1141716302 | USH2A | c.12724A= (p.Thr4242=) | |
| 1 | g.215675188G>A | CA423428000 | USH2A | c.12723C>T (p.Tyr4241=) | gnomAD v4 |
| 1 | g.215675188G>C | CA344849566 | USH2A | c.12723C>G (p.Tyr4241Ter) | |
| 1 | g.215675188G>T | CA344849568 | USH2A | c.12723C>A (p.Tyr4241Ter) | |
| 1 | g.215675189T>A | CA344849571 | USH2A | c.12722A>T (p.Tyr4241Phe) | |
| 1 | g.215675189T>C | CA344849574 | USH2A | c.12722A>G (p.Tyr4241Cys) | ClinVar |
| 1 | g.215675189T>G | CA344849578 | USH2A | c.12722A>C (p.Tyr4241Ser) | |
| 1 | g.215675190A>C | CA344849582 | USH2A | c.12721T>G (p.Tyr4241Asp) | |
| 1 | g.215675190A>G | CA344849583 | USH2A | c.12721T>C (p.Tyr4241His) | |
| 1 | g.215675190A>T | CA344849595 | USH2A | c.12721T>A (p.Tyr4241Asn) | |
| 1 | g.215675191G>A | CA423428012 | USH2A | c.12720C>T (p.Ile4240=) | |
| 1 | g.215675191G>C | CA344849598 | USH2A | c.12720C>G (p.Ile4240Met) | |
| 1 | g.215675191G>T | CA423428015 | USH2A | c.12720C>A (p.Ile4240=) | |
| 1 | g.215675192A>C | CA344849599 | USH2A | c.12719T>G (p.Ile4240Ser) | |
| 1 | g.215675192A>G | CA344849602 | USH2A | c.12719T>C (p.Ile4240Thr) | |
| 1 | g.215675192A>T | CA344849604 | USH2A | c.12719T>A (p.Ile4240Asn) | |
| 1 | g.215675193T>A | CA344849607 | USH2A | c.12718A>T (p.Ile4240Phe) | |
| 1 | g.215675193T>C | CA344849609 | USH2A | c.12718A>G (p.Ile4240Val) | |
| 1 | g.215675193T>G | CA344849611 | USH2A | c.12718A>C (p.Ile4240Leu) | |
| 1 | g.215675196del | CA658764173 | USH2A | c.12718del (p.Ile4240SerfsTer17) | |
| 1 | g.215675194T>A | CA344849614 | USH2A | c.12717A>T (p.Lys4239Asn) | |
| 1 | g.215675194T>C | CA423428029 | USH2A | c.12717A>G (p.Lys4239=) | |
| 1 | g.215675194T>G | CA344849616 | USH2A | c.12717A>C (p.Lys4239Asn) | |
| 1 | g.215675195T>A | CA344849619 | USH2A | c.12716A>T (p.Lys4239Ile) | |
| 1 | g.215675195T>C | CA344849622 | USH2A | c.12716A>G (p.Lys4239Arg) | |
| 1 | g.215675195T>G | CA344849626 | USH2A | c.12716A>C (p.Lys4239Thr) | |
| 1 | g.215675196T>A | CA344849629 | USH2A | c.12715A>T (p.Lys4239Ter) | |
| 1 | g.215675196T>C | CA344849637 | USH2A | c.12715A>G (p.Lys4239Glu) | |
| 1 | g.215675196T>G | CA344849640 | USH2A | c.12715A>C (p.Lys4239Gln) | |
| 1 | g.215675197A= | CA1144229170 | USH2A | c.12714T= (p.Tyr4238=) | |
| 1 | g.215675197A>C | CA262078 | USH2A | c.12714T>G (p.Tyr4238Ter) | ClinVar dbSNP |
| 1 | g.215675197A>G | CA423428035 | USH2A | c.12714T>C (p.Tyr4238=) | |
| 1 | g.215675197A>T | CA344849645 | USH2A | c.12714T>A (p.Tyr4238Ter) | |
| 1 | g.215675198T>A | CA344849648 | USH2A | c.12713A>T (p.Tyr4238Phe) | |
| 1 | g.215675198T>C | CA344849652 | USH2A | c.12713A>G (p.Tyr4238Cys) | ClinVar gnomAD v4 |
| 1 | g.215675198T>G | CA344849654 | USH2A | c.12713A>C (p.Tyr4238Ser) | |
| 1 | g.215675199A= | CA1220373846 | USH2A | c.12712T= (p.Tyr4238=) | |
| 1 | g.215675199A>C | CA344849660 | USH2A | c.12712T>G (p.Tyr4238Asp) | |
| 1 | g.215675199A>G | CA344849664 | USH2A | c.12712T>C (p.Tyr4238His) | ClinVar dbSNP |
| 1 | g.215675199A>T | CA344849658 | USH2A | c.12712T>A (p.Tyr4238Asn) | |
| 1 | g.215675200T>A | CA344849670 | USH2A | c.12711A>T (p.Glu4237Asp) | |
| 1 | g.215675200T>C | CA423428043 | USH2A | c.12711A>G (p.Glu4237=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215675200T>G | CA344849674 | USH2A | c.12711A>C (p.Glu4237Asp) | |
| 1 | g.215675200T= | CA1220373847 | USH2A | c.12711A= (p.Glu4237=) | |
| 1 | g.215675201T>A | CA344849676 | USH2A | c.12710A>T (p.Glu4237Val) | |
| 1 | g.215675201T>C | CA344849678 | USH2A | c.12710A>G (p.Glu4237Gly) | |
| 1 | g.215675201T>G | CA344849679 | USH2A | c.12710A>C (p.Glu4237Ala) | |
| 1 | g.215675202C>A | CA344849681 | USH2A | c.12709G>T (p.Glu4237Ter) | |
| 1 | g.215675202C>G | CA344849683 | USH2A | c.12709G>C (p.Glu4237Gln) | |
| 1 | g.215675202C>T | CA344849685 | USH2A | c.12709G>A (p.Glu4237Lys) | gnomAD v4 |
| 1 | g.215675203A>C | CA344849691 | USH2A | c.12708T>G (p.Cys4236Trp) | |
| 1 | g.215675203A>G | CA423428050 | USH2A | c.12708T>C (p.Cys4236=) | ClinVar |
| 1 | g.215675203A>T | CA344849692 | USH2A | c.12708T>A (p.Cys4236Ter) | ClinVar |
| 1 | g.215675204C>A | CA344849696 | USH2A | c.12707G>T (p.Cys4236Phe) | |
| 1 | g.215675204C>G | CA344849699 | USH2A | c.12707G>C (p.Cys4236Ser) | |
| 1 | g.215675204C>T | CA344849702 | USH2A | c.12707G>A (p.Cys4236Tyr) | gnomAD v4 |
| 1 | g.215675205A>C | CA344849720 | USH2A | c.12706T>G (p.Cys4236Gly) | |
| 1 | g.215675205A>G | CA344849718 | USH2A | c.12706T>C (p.Cys4236Arg) | |
| 1 | g.215675205A>T | CA344849716 | USH2A | c.12706T>A (p.Cys4236Ser) | ClinVar dbSNP |
| 1 | g.215675206C>A | CA344849722 | USH2A | c.12705G>T (p.Gln4235His) | |
| 1 | g.215675206C= | CA1220373848 | USH2A | c.12705G= (p.Gln4235=) | |
| 1 | g.215675206C>G | CA344849724 | USH2A | c.12705G>C (p.Gln4235His) | |
| 1 | g.215675206C>T | CA423428057 | USH2A | c.12705G>A (p.Gln4235=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675207T>A | CA344849728 | USH2A | c.12704A>T (p.Gln4235Leu) | |
| 1 | g.215675207T>C | CA344849731 | USH2A | c.12704A>G (p.Gln4235Arg) | |
| 1 | g.215675207T>G | CA344849735 | USH2A | c.12704A>C (p.Gln4235Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215675207T= | CA1220373849 | USH2A | c.12704A= (p.Gln4235=) | |
| 1 | g.215675208G>A | CA344849740 | USH2A | c.12703C>T (p.Gln4235Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215675208G>C | CA344849743 | USH2A | c.12703C>G (p.Gln4235Glu) | |
| 1 | g.215675208G= | CA1220373850 | USH2A | c.12703C= (p.Gln4235=) | |
| 1 | g.215675208G>T | CA344849745 | USH2A | c.12703C>A (p.Gln4235Lys) | |
| 1 | g.215675209C>A | CA423428062 | USH2A | c.12702G>T (p.Thr4234=) | gnomAD v4 |
| 1 | g.215675209C= | CA1220373851 | USH2A | c.12702G= (p.Thr4234=) | |
| 1 | g.215675209C>G | CA37412972 | USH2A | c.12702G>C (p.Thr4234=) | dbSNP |
| 1 | g.215675209C>T | CA37412976 | USH2A | c.12702G>A (p.Thr4234=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215675210G>A | CA1393419 | USH2A | c.12701C>T (p.Thr4234Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675210G>C | CA344849750 | USH2A | c.12701C>G (p.Thr4234Arg) | ClinVar dbSNP |
| 1 | g.215675210G= | CA1147053545 | USH2A | c.12701C= (p.Thr4234=) | |
| 1 | g.215675210G>T | CA344849753 | USH2A | c.12701C>A (p.Thr4234Lys) | dbSNP |
| 1 | g.215675211T>A | CA344849759 | USH2A | c.12700A>T (p.Thr4234Ser) | dbSNP |
| 1 | g.215675211T>C | CA1393420 | USH2A | c.12700A>G (p.Thr4234Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675211T>G | CA10576374 | USH2A | c.12700A>C (p.Thr4234Pro) | ClinVar dbSNP COSMIC |
| 1 | g.215675211T= | CA1148097190 | USH2A | c.12700A= (p.Thr4234=) | |
| 1 | g.215675211_215675213del | CA1012179120 | USH2A | c.12698_12700del (p.Trp4233_Thr4234delinsSer) | gnomAD v3 gnomAD v4 |
| 1 | g.215675212_215675219del | CA645537388 | USH2A | c.12693_12700del (p.Gln4231HisfsTer4) | COSMIC COSMIC |
| 1 | g.215675212C>A | CA344849762 | USH2A | c.12699G>T (p.Trp4233Cys) | COSMIC COSMIC |
| 1 | g.215675212C>G | CA344849778 | USH2A | c.12699G>C (p.Trp4233Cys) | gnomAD v4 |
| 1 | g.215675212C>T | CA344849777 | USH2A | c.12699G>A (p.Trp4233Ter) | |
| 1 | g.215675213del | CA2747717661 | USH2A | c.12699del (p.Trp4233Ter) | |
| 1 | g.215675212_215675214del | CA913072756 | USH2A | c.12697_12699del (p.Trp4233del) | |
| 1 | g.215675212_215675214delinsCCA | CA1220373852 | USH2A | c.12697_12699delinsTGG (p.Trp4233=) | |
| 1 | g.215675213C>A | CA344849781 | USH2A | c.12698G>T (p.Trp4233Leu) | COSMIC COSMIC |
| 1 | g.215675213C>G | CA344849787 | USH2A | c.12698G>C (p.Trp4233Ser) | |
| 1 | g.215675213C>T | CA344849791 | USH2A | c.12698G>A (p.Trp4233Ter) | ClinVar |
| 1 | g.215675213_215675214del | CA1393421 | USH2A | c.12697_12698del (p.Trp4233AspfsTer4) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675214A= | CA1220373853 | USH2A | c.12697T= (p.Trp4233=) | |
| 1 | g.215675214A>C | CA344849794 | USH2A | c.12697T>G (p.Trp4233Gly) | |
| 1 | g.215675214A>G | CA1393422 | USH2A | c.12697T>C (p.Trp4233Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675214A>T | CA344849795 | USH2A | c.12697T>A (p.Trp4233Arg) | |
| 1 | g.215675215T>A | CA423428083 | USH2A | c.12696A>T (p.Pro4232=) | |
| 1 | g.215675215T>C | CA37412994 | USH2A | c.12696A>G (p.Pro4232=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675215T>G | CA423428080 | USH2A | c.12696A>C (p.Pro4232=) | |
| 1 | g.215675215T= | CA1141361486 | USH2A | c.12696A= (p.Pro4232=) | |
| 1 | g.215675216G>A | CA344849796 | USH2A | c.12695C>T (p.Pro4232Leu) | ClinVar |
| 1 | g.215675216G>C | CA1393423 | USH2A | c.12695C>G (p.Pro4232Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675216G= | CA1148230772 | USH2A | c.12695C= (p.Pro4232=) | |
| 1 | g.215675216G>T | CA344849798 | USH2A | c.12695C>A (p.Pro4232Gln) | ClinVar dbSNP |
| 1 | g.215675217G>A | CA344849804 | USH2A | c.12694C>T (p.Pro4232Ser) | |
| 1 | g.215675217G>C | CA344849806 | USH2A | c.12694C>G (p.Pro4232Ala) | |
| 1 | g.215675217G= | CA1148287517 | USH2A | c.12694C= (p.Pro4232=) | |
| 1 | g.215675217G>T | CA37412999 | USH2A | c.12694C>A (p.Pro4232Thr) | dbSNP |
| 1 | g.215675218T>A | CA344849811 | USH2A | c.12693A>T (p.Gln4231His) | |
| 1 | g.215675218T>C | CA423428090 | USH2A | c.12693A>G (p.Gln4231=) | ClinVar COSMIC COSMIC |
| 1 | g.215675218T>G | CA344849814 | USH2A | c.12693A>C (p.Gln4231His) | |
| 1 | g.215675219T>A | CA344849819 | USH2A | c.12692A>T (p.Gln4231Leu) | |
| 1 | g.215675219T>C | CA344849821 | USH2A | c.12692A>G (p.Gln4231Arg) | gnomAD v3 gnomAD v4 |
| 1 | g.215675219T>G | CA344849825 | USH2A | c.12692A>C (p.Gln4231Pro) | gnomAD v4 |
| 1 | g.215675220G>A | CA16042307 | USH2A | c.12691C>T (p.Gln4231Ter) | ClinVar dbSNP |
| 1 | g.215675220G>C | CA344849828 | USH2A | c.12691C>G (p.Gln4231Glu) | |
| 1 | g.215675220G= | CA1220373854 | USH2A | c.12691C= (p.Gln4231=) | |
| 1 | g.215675220G>T | CA344849832 | USH2A | c.12691C>A (p.Gln4231Lys) | COSMIC |
| 1 | g.215675221C>A | CA344849834 | USH2A | c.12690G>T (p.Leu4230Phe) | |
| 1 | g.215675221C>G | CA344849839 | USH2A | c.12690G>C (p.Leu4230Phe) | |
| 1 | g.215675221C>T | CA423428102 | USH2A | c.12690G>A (p.Leu4230=) | ClinVar gnomAD v4 |
| 1 | g.215675221_215675222insCGTATCATTAAAAAAC | CA1012179129 | USH2A | c.12690_12691insTTTTTTAATGATACGG (p.Gln4231PhefsTer12) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215675222A>C | CA344849840 | USH2A | c.12689T>G (p.Leu4230Trp) | |
| 1 | g.215675222A>G | CA344849843 | USH2A | c.12689T>C (p.Leu4230Ser) | |
| 1 | g.215675222A>T | CA344849846 | USH2A | c.12689T>A (p.Leu4230Ter) | |
| 1 | g.215675223A>C | CA344849849 | USH2A | c.12688T>G (p.Leu4230Val) | |
| 1 | g.215675223A>G | CA423428106 | USH2A | c.12688T>C (p.Leu4230=) | gnomAD v4 |
| 1 | g.215675223A>T | CA344849852 | USH2A | c.12688T>A (p.Leu4230Met) | |
| 1 | g.215675224A= | CA1220373855 | USH2A | c.12687T= (p.Gly4229=) | |
| 1 | g.215675224A>C | CA423428113 | USH2A | c.12687T>G (p.Gly4229=) | |
| 1 | g.215675224A>G | CA423428116 | USH2A | c.12687T>C (p.Gly4229=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215675224A>T | CA423428119 | USH2A | c.12687T>A (p.Gly4229=) | |
| 1 | g.215675225C>A | CA344849853 | USH2A | c.12686G>T (p.Gly4229Val) | gnomAD v4 |
| 1 | g.215675225C>G | CA344849856 | USH2A | c.12686G>C (p.Gly4229Ala) | |
| 1 | g.215675225C>T | CA344849870 | USH2A | c.12686G>A (p.Gly4229Asp) | |
| 1 | g.215675226C>A | CA344849886 | USH2A | c.12685G>T (p.Gly4229Cys) | |
| 1 | g.215675226C= | CA1220373856 | USH2A | c.12685G= (p.Gly4229=) | |
| 1 | g.215675226C>G | CA344849882 | USH2A | c.12685G>C (p.Gly4229Arg) | gnomAD v4 |
| 1 | g.215675226C>T | CA1393424 | USH2A | c.12685G>A (p.Gly4229Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675227T>A | CA423428127 | USH2A | c.12684A>T (p.Thr4228=) | |
| 1 | g.215675227T>C | CA423428129 | USH2A | c.12684A>G (p.Thr4228=) | |
| 1 | g.215675227T>G | CA423428128 | USH2A | c.12684A>C (p.Thr4228=) | |
| 1 | g.215675228G>A | CA1393425 | USH2A | c.12683C>T (p.Thr4228Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675228G>C | CA344849892 | USH2A | c.12683C>G (p.Thr4228Arg) | |
| 1 | g.215675228G= | CA1220373857 | USH2A | c.12683C= (p.Thr4228=) | |
| 1 | g.215675228G>T | CA344849900 | USH2A | c.12683C>A (p.Thr4228Lys) | COSMIC COSMIC |
| 1 | g.215675229T>A | CA344849903 | USH2A | c.12682A>T (p.Thr4228Ser) | |
| 1 | g.215675229T>C | CA344849906 | USH2A | c.12682A>G (p.Thr4228Ala) | |
| 1 | g.215675229T>G | CA344849912 | USH2A | c.12682A>C (p.Thr4228Pro) | |
| 1 | g.215675230G>A | CA423428134 | USH2A | c.12681C>T (p.Asp4227=) | ClinVar dbSNP gnomAD v2 |
| 1 | g.215675230G>C | CA344849915 | USH2A | c.12681C>G (p.Asp4227Glu) | |
| 1 | g.215675230G= | CA1220373858 | USH2A | c.12681C= (p.Asp4227=) | |
| 1 | g.215675230G>T | CA344849924 | USH2A | c.12681C>A (p.Asp4227Glu) | |
| 1 | g.215675231T>A | CA1393426 | USH2A | c.12680A>T (p.Asp4227Val) | dbSNP ExAC gnomAD v4 |
| 1 | g.215675231T>C | CA344849931 | USH2A | c.12680A>G (p.Asp4227Gly) | COSMIC COSMIC |
| 1 | g.215675231T>G | CA344849933 | USH2A | c.12680A>C (p.Asp4227Ala) | |
| 1 | g.215675231T= | CA1148888162 | USH2A | c.12680A= (p.Asp4227=) | |
| 1 | g.215675232C>A | CA344849938 | USH2A | c.12679G>T (p.Asp4227Tyr) | |
| 1 | g.215675232C= | CA1220373859 | USH2A | c.12679G= (p.Asp4227=) | |
| 1 | g.215675232C>G | CA344849936 | USH2A | c.12679G>C (p.Asp4227His) | |
| 1 | g.215675232C>T | CA344849935 | USH2A | c.12679G>A (p.Asp4227Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215675233A>C | CA344849941 | USH2A | c.12678T>G (p.Asn4226Lys) | |
| 1 | g.215675233A>G | CA423428143 | USH2A | c.12678T>C (p.Asn4226=) | |
| 1 | g.215675233A>T | CA344849944 | USH2A | c.12678T>A (p.Asn4226Lys) | |
| 1 | g.215675234T>A | CA344849950 | USH2A | c.12677A>T (p.Asn4226Ile) | |
| 1 | g.215675234T>C | CA344849952 | USH2A | c.12677A>G (p.Asn4226Ser) | gnomAD v4 |
| 1 | g.215675234T>G | CA344849954 | USH2A | c.12677A>C (p.Asn4226Thr) | |
| 1 | g.215675235T>A | CA344849956 | USH2A | c.12676A>T (p.Asn4226Tyr) | |
| 1 | g.215675235T>C | CA344849958 | USH2A | c.12676A>G (p.Asn4226Asp) | |
| 1 | g.215675235T>G | CA344849961 | USH2A | c.12676A>C (p.Asn4226His) | |
| 1 | g.215675235_215675236insGT | CA2534219804 | USH2A | c.12676_12677insCA (p.Asn4226ThrfsTer?) | |
| 1 | g.215675236A>C | CA344849963 | USH2A | c.12675T>G (p.Tyr4225Ter) | |
| 1 | g.215675236A>G | CA423428154 | USH2A | c.12675T>C (p.Tyr4225=) | ClinVar dbSNP |
| 1 | g.215675236A>T | CA344849965 | USH2A | c.12675T>A (p.Tyr4225Ter) | |
| 1 | g.215675237T>A | CA344849968 | USH2A | c.12674A>T (p.Tyr4225Phe) | |
| 1 | g.215675237T>C | CA344849969 | USH2A | c.12674A>G (p.Tyr4225Cys) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215675237T>G | CA344849970 | USH2A | c.12674A>C (p.Tyr4225Ser) | |
| 1 | g.215675237T= | CA1220373860 | USH2A | c.12674A= (p.Tyr4225=) | |
| 1 | g.215675238A>C | CA344849972 | USH2A | c.12673T>G (p.Tyr4225Asp) | |
| 1 | g.215675238A>G | CA344849973 | USH2A | c.12673T>C (p.Tyr4225His) | |
| 1 | g.215675238A>T | CA344849971 | USH2A | c.12673T>A (p.Tyr4225Asn) | |
| 1 | g.215675239C>A | CA344849976 | USH2A | c.12672G>T (p.Met4224Ile) | |
| 1 | g.215675239C>G | CA344849978 | USH2A | c.12672G>C (p.Met4224Ile) | |
| 1 | g.215675239C>T | CA344849980 | USH2A | c.12672G>A (p.Met4224Ile) | gnomAD v4 |
| 1 | g.215675240A>C | CA344849984 | USH2A | c.12671T>G (p.Met4224Arg) | |
| 1 | g.215675240A>G | CA344849986 | USH2A | c.12671T>C (p.Met4224Thr) | |
| 1 | g.215675240A>T | CA344849990 | USH2A | c.12671T>A (p.Met4224Lys) | |
| 1 | g.215675241_215675242del | CA2535810358 | USH2A | c.12670_12671del (p.Met4224ValfsTer2) | |
| 1 | g.215675241T>A | CA344849994 | USH2A | c.12670A>T (p.Met4224Leu) | |
| 1 | g.215675241T>C | CA1393427 | USH2A | c.12670A>G (p.Met4224Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675241T>G | CA344849992 | USH2A | c.12670A>C (p.Met4224Leu) | |
| 1 | g.215675241T= | CA1220373861 | USH2A | c.12670A= (p.Met4224=) | |
| 1 | g.215675242A= | CA1220373862 | USH2A | c.12669T= (p.Phe4223=) | |
| 1 | g.215675242A>C | CA344849998 | USH2A | c.12669T>G (p.Phe4223Leu) | |
| 1 | g.215675242A>G | CA423428166 | USH2A | c.12669T>C (p.Phe4223=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675242A>T | CA344850001 | USH2A | c.12669T>A (p.Phe4223Leu) | |
| 1 | g.215675243A>C | CA344850002 | USH2A | c.12668T>G (p.Phe4223Cys) | |
| 1 | g.215675243A>G | CA344850011 | USH2A | c.12668T>C (p.Phe4223Ser) | |
| 1 | g.215675243A>T | CA344850014 | USH2A | c.12668T>A (p.Phe4223Tyr) | |
| 1 | g.215675244A= | CA1142393358 | USH2A | c.12667T= (p.Phe4223=) | |
| 1 | g.215675244A>C | CA344850016 | USH2A | c.12667T>G (p.Phe4223Val) | |
| 1 | g.215675244A>G | CA143300 | USH2A | c.12667T>C (p.Phe4223Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675244A>T | CA344850019 | USH2A | c.12667T>A (p.Phe4223Ile) | |
| 1 | g.215675245T>A | CA423428170 | USH2A | c.12666A>T (p.Thr4222=) | |
| 1 | g.215675245T>C | CA143298 | USH2A | c.12666A>G (p.Thr4222=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675245T>G | CA423428171 | USH2A | c.12666A>C (p.Thr4222=) | |
| 1 | g.215675245T= | CA1139961659 | USH2A | c.12666A= (p.Thr4222=) | |
| 1 | g.215675246G>A | CA37413019 | USH2A | c.12665C>T (p.Thr4222Ile) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.215675246G>C | CA344850037 | USH2A | c.12665C>G (p.Thr4222Arg) | gnomAD v4 |
| 1 | g.215675246G= | CA1220373863 | USH2A | c.12665C= (p.Thr4222=) | |
| 1 | g.215675246G>T | CA344850042 | USH2A | c.12665C>A (p.Thr4222Lys) | |
| 1 | g.215675247T>A | CA344850045 | USH2A | c.12664A>T (p.Thr4222Ser) | |
| 1 | g.215675247T>C | CA344850046 | USH2A | c.12664A>G (p.Thr4222Ala) | |
| 1 | g.215675247T>G | CA344850047 | USH2A | c.12664A>C (p.Thr4222Pro) | |
| 1 | g.215675248A>C | CA344850048 | USH2A | c.12663T>G (p.Asn4221Lys) | |
| 1 | g.215675248A>G | CA423428178 | USH2A | c.12663T>C (p.Asn4221=) | ClinVar dbSNP |
| 1 | g.215675248A>T | CA344850049 | USH2A | c.12663T>A (p.Asn4221Lys) | |
| 1 | g.215675249T>A | CA344850051 | USH2A | c.12662A>T (p.Asn4221Ile) | dbSNP |
| 1 | g.215675249T>C | CA1393428 | USH2A | c.12662A>G (p.Asn4221Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675249T>G | CA344850065 | USH2A | c.12662A>C (p.Asn4221Thr) | |
| 1 | g.215675249T= | CA1220373864 | USH2A | c.12662A= (p.Asn4221=) | |
| 1 | g.215675250T>A | CA344850069 | USH2A | c.12661A>T (p.Asn4221Tyr) | |
| 1 | g.215675250T>C | CA344850074 | USH2A | c.12661A>G (p.Asn4221Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675250T>G | CA344850072 | USH2A | c.12661A>C (p.Asn4221His) | |
| 1 | g.215675250T= | CA1220373865 | USH2A | c.12661A= (p.Asn4221=) | |
| 1 | g.215675251C>A | CA344850077 | USH2A | c.12660G>T (p.Arg4220Ser) | |
| 1 | g.215675251C= | CA1220373866 | USH2A | c.12660G= (p.Arg4220=) | |
| 1 | g.215675251C>G | CA344850084 | USH2A | c.12660G>C (p.Arg4220Ser) | |
| 1 | g.215675251C>T | CA1393429 | USH2A | c.12660G>A (p.Arg4220=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.215675252C>A | CA344850091 | USH2A | c.12659G>T (p.Arg4220Met) | |
| 1 | g.215675252C>G | CA344850094 | USH2A | c.12659G>C (p.Arg4220Thr) | |
| 1 | g.215675252C>T | CA344850098 | USH2A | c.12659G>A (p.Arg4220Lys) | |
| 1 | g.215675253T>A | CA344850102 | USH2A | c.12658A>T (p.Arg4220Trp) | |
| 1 | g.215675253T>C | CA344850104 | USH2A | c.12658A>G (p.Arg4220Gly) | |
| 1 | g.215675253T>G | CA423428186 | USH2A | c.12658A>C (p.Arg4220=) | |
| 1 | g.215675254T>A | CA344850114 | USH2A | c.12657A>T (p.Glu4219Asp) | |
| 1 | g.215675254T>C | CA423428189 | USH2A | c.12657A>G (p.Glu4219=) | |
| 1 | g.215675254T>G | CA344850118 | USH2A | c.12657A>C (p.Glu4219Asp) | |
| 1 | g.215675255T>A | CA344850121 | USH2A | c.12656A>T (p.Glu4219Val) | |
| 1 | g.215675255T>C | CA344850138 | USH2A | c.12656A>G (p.Glu4219Gly) | |
| 1 | g.215675255T>G | CA344850141 | USH2A | c.12656A>C (p.Glu4219Ala) | ClinVar dbSNP |
| 1 | g.215675255T= | CA1220373867 | USH2A | c.12656A= (p.Glu4219=) | |
| 1 | g.215675256C>A | CA344850146 | USH2A | c.12655G>T (p.Glu4219Ter) | |
| 1 | g.215675256C>G | CA344850144 | USH2A | c.12655G>C (p.Glu4219Gln) | COSMIC COSMIC |
| 1 | g.215675256C>T | CA344850145 | USH2A | c.12655G>A (p.Glu4219Lys) | |
| 1 | g.215675257A>C | CA423428193 | USH2A | c.12654T>G (p.Thr4218=) | ClinVar |
| 1 | g.215675257A>G | CA423428195 | USH2A | c.12654T>C (p.Thr4218=) | ClinVar |
| 1 | g.215675257A>T | CA423428194 | USH2A | c.12654T>A (p.Thr4218=) | |
| 1 | g.215675258G>A | CA344850147 | USH2A | c.12653C>T (p.Thr4218Ile) | ClinVar dbSNP |
| 1 | g.215675258G>C | CA344850148 | USH2A | c.12653C>G (p.Thr4218Ser) | |
| 1 | g.215675258G>T | CA344850151 | USH2A | c.12653C>A (p.Thr4218Asn) | |
| 1 | g.215675259T>A | CA344850153 | USH2A | c.12652A>T (p.Thr4218Ser) | |
| 1 | g.215675259T>C | CA344850154 | USH2A | c.12652A>G (p.Thr4218Ala) | |
| 1 | g.215675259T>G | CA344850157 | USH2A | c.12652A>C (p.Thr4218Pro) | |
| 1 | g.215675260G>A | CA423428200 | USH2A | c.12651C>T (p.Asn4217=) | gnomAD v4 COSMIC COSMIC |
| 1 | g.215675260G>C | CA344850160 | USH2A | c.12651C>G (p.Asn4217Lys) | |
| 1 | g.215675260G= | CA1220373868 | USH2A | c.12651C= (p.Asn4217=) | |
| 1 | g.215675260G>T | CA1393430 | USH2A | c.12651C>A (p.Asn4217Lys) | dbSNP ExAC gnomAD v2 |
| 1 | g.215675261T>A | CA344850166 | USH2A | c.12650A>T (p.Asn4217Ile) | |
| 1 | g.215675261T>C | CA344850170 | USH2A | c.12650A>G (p.Asn4217Ser) | |
| 1 | g.215675261T>G | CA1393431 | USH2A | c.12650A>C (p.Asn4217Thr) | dbSNP ExAC gnomAD v2 |
| 1 | g.215675261T= | CA1220373869 | USH2A | c.12650A= (p.Asn4217=) | |
| 1 | g.215675262T>A | CA344850193 | USH2A | c.12649A>T (p.Asn4217Tyr) | |
| 1 | g.215675262T>C | CA344850181 | USH2A | c.12649A>G (p.Asn4217Asp) | |
| 1 | g.215675262T>G | CA344850177 | USH2A | c.12649A>C (p.Asn4217His) | |
| 1 | g.215675263A>C | CA344850197 | USH2A | c.12648T>G (p.Tyr4216Ter) | |
| 1 | g.215675263A>G | CA423428209 | USH2A | c.12648T>C (p.Tyr4216=) | |
| 1 | g.215675263A>T | CA344850199 | USH2A | c.12648T>A (p.Tyr4216Ter) | |
| 1 | g.215675264T>A | CA344850203 | USH2A | c.12647A>T (p.Tyr4216Phe) | |
| 1 | g.215675264T>C | CA1393432 | USH2A | c.12647A>G (p.Tyr4216Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675264T>G | CA344850207 | USH2A | c.12647A>C (p.Tyr4216Ser) | |
| 1 | g.215675264T= | CA1220373870 | USH2A | c.12647A= (p.Tyr4216=) | |
| 1 | g.215675265A>C | CA344850209 | USH2A | c.12646T>G (p.Tyr4216Asp) | |
| 1 | g.215675265A>G | CA344850212 | USH2A | c.12646T>C (p.Tyr4216His) | |
| 1 | g.215675265A>T | CA344850218 | USH2A | c.12646T>A (p.Tyr4216Asn) | |
| 1 | g.215675266T>A | CA344850221 | USH2A | c.12645A>T (p.Glu4215Asp) | |
| 1 | g.215675266T>C | CA423428354 | USH2A | c.12645A>G (p.Glu4215=) | |
| 1 | g.215675266T>G | CA344850223 | USH2A | c.12645A>C (p.Glu4215Asp) |