OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.215640624_215640656delinsCGGTTAACACGTACTCCTTCAGTTGGCCGTTCA | CA1220359706 | USH2A | c.14870_14902delinsTGAACGGCCAACTGAAGGAGTACGTGTTAACCG (p.Leu4957=) | |
| 1 | g.215640627_215640658del | CA916082109 | USH2A | c.14870_14901del (p.Leu4957ArgfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215640648G>A | CA344827966 | USH2A | c.14878C>T (p.Gln4960Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215640648G>C | CA344827967 | USH2A | c.14878C>G (p.Gln4960Glu) | |
| 1 | g.215640648G= | CA1220359714 | USH2A | c.14878C= (p.Gln4960=) | |
| 1 | g.215640648G>T | CA344827970 | USH2A | c.14878C>A (p.Gln4960Lys) | |
| 1 | g.215640649G>A | CA423306875 | USH2A | c.14877C>T (p.Gly4959=) | |
| 1 | g.215640649G>C | CA423306876 | USH2A | c.14877C>G (p.Gly4959=) | ClinVar dbSNP |
| 1 | g.215640649G= | CA1220359715 | USH2A | c.14877C= (p.Gly4959=) | |
| 1 | g.215640649G>T | CA423306877 | USH2A | c.14877C>A (p.Gly4959=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215640650C>A | CA344827975 | USH2A | c.14876G>T (p.Gly4959Val) | |
| 1 | g.215640650C= | CA1220359716 | USH2A | c.14876G= (p.Gly4959=) | |
| 1 | g.215640650C>G | CA344827976 | USH2A | c.14876G>C (p.Gly4959Ala) | |
| 1 | g.215640650C>T | CA344827978 | USH2A | c.14876G>A (p.Gly4959Asp) | ClinVar dbSNP |
| 1 | g.215640651C>A | CA344827984 | USH2A | c.14875G>T (p.Gly4959Cys) | |
| 1 | g.215640651C= | CA1143475987 | USH2A | c.14875G= (p.Gly4959=) | |
| 1 | g.215640651C>G | CA344827986 | USH2A | c.14875G>C (p.Gly4959Arg) | |
| 1 | g.215640651C>T | CA37380284 | USH2A | c.14875G>A (p.Gly4959Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215640652G>A | CA1392901 | USH2A | c.14874C>T (p.Asn4958=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.215640652G>C | CA344827993 | USH2A | c.14874C>G (p.Asn4958Lys) | |
| 1 | g.215640652G= | CA1149106375 | USH2A | c.14874C= (p.Asn4958=) | |
| 1 | g.215640652G>T | CA344827991 | USH2A | c.14874C>A (p.Asn4958Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215640653T>A | CA344827997 | USH2A | c.14873A>T (p.Asn4958Ile) | |
| 1 | g.215640653T>C | CA344828012 | USH2A | c.14873A>G (p.Asn4958Ser) | COSMIC COSMIC |
| 1 | g.215640653T>G | CA344828008 | USH2A | c.14873A>C (p.Asn4958Thr) | |
| 1 | g.215640654T>A | CA344828015 | USH2A | c.14872A>T (p.Asn4958Tyr) | |
| 1 | g.215640654T>C | CA344828020 | USH2A | c.14872A>G (p.Asn4958Asp) | |
| 1 | g.215640654T>G | CA344828017 | USH2A | c.14872A>C (p.Asn4958His) | |
| 1 | g.215640655C>A | CA423306878 | USH2A | c.14871G>T (p.Leu4957=) | |
| 1 | g.215640655C= | CA1148716177 | USH2A | c.14871G= (p.Leu4957=) | |
| 1 | g.215640655C>G | CA1392902 | USH2A | c.14871G>C (p.Leu4957=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215640655C>T | CA423306879 | USH2A | c.14871G>A (p.Leu4957=) | |
| 1 | g.215640656A>C | CA344828029 | USH2A | c.14870T>G (p.Leu4957Arg) | |
| 1 | g.215640656A>G | CA344828036 | USH2A | c.14870T>C (p.Leu4957Pro) | |
| 1 | g.215640656A>T | CA344828040 | USH2A | c.14870T>A (p.Leu4957Gln) | |
| 1 | g.215640657G>A | CA423306880 | USH2A | c.14869C>T (p.Leu4957=) | |
| 1 | g.215640657G>C | CA344828042 | USH2A | c.14869C>G (p.Leu4957Val) | |
| 1 | g.215640657G>T | CA344828043 | USH2A | c.14869C>A (p.Leu4957Met) | |
| 1 | g.215640658G>A | CA423306881 | USH2A | c.14868C>T (p.Leu4956=) | gnomAD v4 |
| 1 | g.215640658G>C | CA423306883 | USH2A | c.14868C>G (p.Leu4956=) | |
| 1 | g.215640658G>T | CA423306882 | USH2A | c.14868C>A (p.Leu4956=) | |
| 1 | g.215640659A>C | CA344828051 | USH2A | c.14867T>G (p.Leu4956Arg) | |
| 1 | g.215640659A>G | CA344828055 | USH2A | c.14867T>C (p.Leu4956Pro) | |
| 1 | g.215640659A>T | CA344828057 | USH2A | c.14867T>A (p.Leu4956His) | |
| 1 | g.215640660G>A | CA344828069 | USH2A | c.14866C>T (p.Leu4956Phe) | ClinVar dbSNP |
| 1 | g.215640660G>C | CA1392903 | USH2A | c.14866C>G (p.Leu4956Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215640660G= | CA1220359717 | USH2A | c.14866C= (p.Leu4956=) | |
| 1 | g.215640660G>T | CA344828063 | USH2A | c.14866C>A (p.Leu4956Ile) | |
| 1 | g.215640661G>A | CA423306884 | USH2A | c.14865C>T (p.Phe4955=) | ClinVar dbSNP |
| 1 | g.215640661G>C | CA344828073 | USH2A | c.14865C>G (p.Phe4955Leu) | ClinVar dbSNP |
| 1 | g.215640661G= | CA1220359718 | USH2A | c.14865C= (p.Phe4955=) | |
| 1 | g.215640661G>T | CA344828074 | USH2A | c.14865C>A (p.Phe4955Leu) | gnomAD v4 |
| 1 | g.215640662A>C | CA344828075 | USH2A | c.14864T>G (p.Phe4955Cys) | gnomAD v4 |
| 1 | g.215640662A>G | CA344828076 | USH2A | c.14864T>C (p.Phe4955Ser) | |
| 1 | g.215640662A>T | CA344828079 | USH2A | c.14864T>A (p.Phe4955Tyr) | |
| 1 | g.215640663A>C | CA344828081 | USH2A | c.14863T>G (p.Phe4955Val) | |
| 1 | g.215640663A>G | CA344828083 | USH2A | c.14863T>C (p.Phe4955Leu) | |
| 1 | g.215640663A>T | CA344828086 | USH2A | c.14863T>A (p.Phe4955Ile) | |
| 1 | g.215640664G>A | CA423306885 | USH2A | c.14862C>T (p.Thr4954=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215640664G>C | CA423306886 | USH2A | c.14862C>G (p.Thr4954=) | |
| 1 | g.215640664G= | CA1220359719 | USH2A | c.14862C= (p.Thr4954=) | |
| 1 | g.215640664G>T | CA423306887 | USH2A | c.14862C>A (p.Thr4954=) | |
| 1 | g.215640665G>A | CA344828087 | USH2A | c.14861C>T (p.Thr4954Ile) | |
| 1 | g.215640665G>C | CA344828088 | USH2A | c.14861C>G (p.Thr4954Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215640665G= | CA1220359720 | USH2A | c.14861C= (p.Thr4954=) | |
| 1 | g.215640665G>T | CA344828089 | USH2A | c.14861C>A (p.Thr4954Asn) | |
| 1 | g.215640666T>A | CA344828092 | USH2A | c.14860A>T (p.Thr4954Ser) | |
| 1 | g.215640666T>C | CA1392904 | USH2A | c.14860A>G (p.Thr4954Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215640666T>G | CA344828090 | USH2A | c.14860A>C (p.Thr4954Pro) | |
| 1 | g.215640666T= | CA1148565403 | USH2A | c.14860A= (p.Thr4954=) | |
| 1 | g.215640667G>A | CA423306888 | USH2A | c.14859C>T (p.Asp4953=) | ClinVar dbSNP |
| 1 | g.215640667G>C | CA344828097 | USH2A | c.14859C>G (p.Asp4953Glu) | |
| 1 | g.215640667G= | CA1220359721 | USH2A | c.14859C= (p.Asp4953=) | |
| 1 | g.215640667G>T | CA344828098 | USH2A | c.14859C>A (p.Asp4953Glu) | |
| 1 | g.215640668T>A | CA344828103 | USH2A | c.14858A>T (p.Asp4953Val) | |
| 1 | g.215640668T>C | CA344828108 | USH2A | c.14858A>G (p.Asp4953Gly) | dbSNP |
| 1 | g.215640668T>G | CA344828111 | USH2A | c.14858A>C (p.Asp4953Ala) | |
| 1 | g.215640668T= | CA1220359722 | USH2A | c.14858A= (p.Asp4953=) | |
| 1 | g.215640669C>A | CA344828126 | USH2A | c.14857G>T (p.Asp4953Tyr) | ClinVar dbSNP |
| 1 | g.215640669C= | CA1220359723 | USH2A | c.14857G= (p.Asp4953=) | |
| 1 | g.215640669C>G | CA344828115 | USH2A | c.14857G>C (p.Asp4953His) | |
| 1 | g.215640669C>T | CA344828124 | USH2A | c.14857G>A (p.Asp4953Asn) | COSMIC COSMIC |
| 1 | g.215640669dup | CA2573131535 | USH2A | c.14857dup (p.Asp4953GlyfsTer?) | ClinVar dbSNP |
| 1 | g.215640670A>C | CA344828129 | USH2A | c.14856T>G (p.Ser4952Arg) | |
| 1 | g.215640670A>G | CA423306890 | USH2A | c.14856T>C (p.Ser4952=) | gnomAD v4 |
| 1 | g.215640670A>T | CA344828132 | USH2A | c.14856T>A (p.Ser4952Arg) | |
| 1 | g.215640671C>A | CA344828141 | USH2A | c.14855G>T (p.Ser4952Ile) | |
| 1 | g.215640671C>G | CA344828144 | USH2A | c.14855G>C (p.Ser4952Thr) | |
| 1 | g.215640671C>T | CA344828145 | USH2A | c.14855G>A (p.Ser4952Asn) | |
| 1 | g.215640672T>A | CA344828148 | USH2A | c.14854A>T (p.Ser4952Cys) | |
| 1 | g.215640672T>C | CA344828155 | USH2A | c.14854A>G (p.Ser4952Gly) | |
| 1 | g.215640672T>G | CA344828151 | USH2A | c.14854A>C (p.Ser4952Arg) | |
| 1 | g.215640673C>A | CA344828159 | USH2A | c.14853G>T (p.Trp4951Cys) | COSMIC COSMIC |
| 1 | g.215640673C>G | CA344828170 | USH2A | c.14853G>C (p.Trp4951Cys) | |
| 1 | g.215640673C>T | CA344828174 | USH2A | c.14853G>A (p.Trp4951Ter) | |
| 1 | g.215640674C>A | CA344828178 | USH2A | c.14852G>T (p.Trp4951Leu) | |
| 1 | g.215640674C>G | CA344828182 | USH2A | c.14852G>C (p.Trp4951Ser) | |
| 1 | g.215640674C>T | CA344828188 | USH2A | c.14852G>A (p.Trp4951Ter) | |
| 1 | g.215640675A>C | CA344828191 | USH2A | c.14851T>G (p.Trp4951Gly) | |
| 1 | g.215640675A>G | CA344828193 | USH2A | c.14851T>C (p.Trp4951Arg) | |
| 1 | g.215640675A>T | CA344828195 | USH2A | c.14851T>A (p.Trp4951Arg) | |
| 1 | g.215640676G>A | CA423306891 | USH2A | c.14850C>T (p.Asn4950=) | gnomAD v4 |
| 1 | g.215640676G>C | CA344828198 | USH2A | c.14850C>G (p.Asn4950Lys) | |
| 1 | g.215640676G= | CA1220359724 | USH2A | c.14850C= (p.Asn4950=) | |
| 1 | g.215640676G>T | CA344828200 | USH2A | c.14850C>A (p.Asn4950Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215640677T>A | CA344828211 | USH2A | c.14849A>T (p.Asn4950Ile) | |
| 1 | g.215640677T>C | CA344828207 | USH2A | c.14849A>G (p.Asn4950Ser) | |
| 1 | g.215640677T>G | CA344828204 | USH2A | c.14849A>C (p.Asn4950Thr) | |
| 1 | g.215640678del | CA2586968098 | USH2A | c.14849del (p.Asn4950ThrfsTer8) | |
| 1 | g.215640678T>A | CA344828214 | USH2A | c.14848A>T (p.Asn4950Tyr) | |
| 1 | g.215640678T>C | CA344828216 | USH2A | c.14848A>G (p.Asn4950Asp) | |
| 1 | g.215640678T>G | CA344828219 | USH2A | c.14848A>C (p.Asn4950His) | |
| 1 | g.215640679C>A | CA423306892 | USH2A | c.14847G>T (p.Val4949=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215640679C= | CA1220359725 | USH2A | c.14847G= (p.Val4949=) | |
| 1 | g.215640679C>G | CA423306893 | USH2A | c.14847G>C (p.Val4949=) | gnomAD v4 |
| 1 | g.215640679C>T | CA423306894 | USH2A | c.14847G>A (p.Val4949=) | ClinVar dbSNP |
| 1 | g.215640686_215640687del | CA645519357 | USH2A | c.14846_14847del (p.Val4949GlufsTer4) | COSMIC COSMIC |
| 1 | g.215640680A>C | CA344828223 | USH2A | c.14846T>G (p.Val4949Gly) | |
| 1 | g.215640680A>G | CA344828225 | USH2A | c.14846T>C (p.Val4949Ala) | |
| 1 | g.215640680A>T | CA344828247 | USH2A | c.14846T>A (p.Val4949Glu) | |
| 1 | g.215640681C>A | CA344828260 | USH2A | c.14845G>T (p.Val4949Leu) | |
| 1 | g.215640681C>G | CA344828253 | USH2A | c.14845G>C (p.Val4949Leu) | |
| 1 | g.215640681C>T | CA344828255 | USH2A | c.14845G>A (p.Val4949Met) | |
| 1 | g.215640682A>C | CA344828263 | USH2A | c.14844T>G (p.Cys4948Trp) | |
| 1 | g.215640682A>G | CA423306895 | USH2A | c.14844T>C (p.Cys4948=) | gnomAD v4 |
| 1 | g.215640682A>T | CA344828264 | USH2A | c.14844T>A (p.Cys4948Ter) | |
| 1 | g.215640683C>A | CA344828265 | USH2A | c.14843G>T (p.Cys4948Phe) | gnomAD v4 |
| 1 | g.215640683C= | CA1220359726 | USH2A | c.14843G= (p.Cys4948=) | |
| 1 | g.215640683C>G | CA344828266 | USH2A | c.14843G>C (p.Cys4948Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215640683C>T | CA344828268 | USH2A | c.14843G>A (p.Cys4948Tyr) | |
| 1 | g.215640684A= | CA1220359727 | USH2A | c.14842T= (p.Cys4948=) | |
| 1 | g.215640684A>C | CA344828280 | USH2A | c.14842T>G (p.Cys4948Gly) | |
| 1 | g.215640684A>G | CA37380315 | USH2A | c.14842T>C (p.Cys4948Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215640684A>T | CA344828278 | USH2A | c.14842T>A (p.Cys4948Ser) | |
| 1 | g.215640685C>A | CA423306896 | USH2A | c.14841G>T (p.Val4947=) | ClinVar |
| 1 | g.215640685C>G | CA423306897 | USH2A | c.14841G>C (p.Val4947=) | |
| 1 | g.215640685C>T | CA423306898 | USH2A | c.14841G>A (p.Val4947=) | ClinVar gnomAD v4 |
| 1 | g.215640686A= | CA1220359728 | USH2A | c.14840T= (p.Val4947=) | |
| 1 | g.215640686A>C | CA344828283 | USH2A | c.14840T>G (p.Val4947Gly) | |
| 1 | g.215640686A>G | CA344828287 | USH2A | c.14840T>C (p.Val4947Ala) | dbSNP |
| 1 | g.215640686A>T | CA344828290 | USH2A | c.14840T>A (p.Val4947Glu) | |
| 1 | g.215640687C>A | CA344828292 | USH2A | c.14839G>T (p.Val4947Leu) | |
| 1 | g.215640687C>G | CA344828302 | USH2A | c.14839G>C (p.Val4947Leu) | |
| 1 | g.215640687C>T | CA344828307 | USH2A | c.14839G>A (p.Val4947Met) | gnomAD v4 COSMIC COSMIC |
| 1 | g.215640687_215640688del | CA2573131536 | USH2A | c.14838_14839del (p.Val4949GlufsTer4) | ClinVar dbSNP |
| 1 | g.215640688C>A | CA37380330 | USH2A | c.14838G>T (p.Val4946=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215640688C= | CA1220359729 | USH2A | c.14838G= (p.Val4946=) | |
| 1 | g.215640688C>G | CA423306899 | USH2A | c.14838G>C (p.Val4946=) | |
| 1 | g.215640688C>T | CA423306900 | USH2A | c.14838G>A (p.Val4946=) | ClinVar |
| 1 | g.215640689A>C | CA344828311 | USH2A | c.14837T>G (p.Val4946Gly) | |
| 1 | g.215640689A>G | CA344828315 | USH2A | c.14837T>C (p.Val4946Ala) | |
| 1 | g.215640689A>T | CA344828316 | USH2A | c.14837T>A (p.Val4946Glu) | |
| 1 | g.215640692_215640695del | CA2573131537 | USH2A | c.14834_14837del (p.Ser4945TrpfsTer4) | ClinVar dbSNP |
| 1 | g.215640690C>A | CA344828317 | USH2A | c.14836G>T (p.Val4946Leu) | dbSNP |
| 1 | g.215640690C= | CA1220359730 | USH2A | c.14836G= (p.Val4946=) | |
| 1 | g.215640690C>G | CA344828318 | USH2A | c.14836G>C (p.Val4946Leu) | |
| 1 | g.215640690C>T | CA344828320 | USH2A | c.14836G>A (p.Val4946Met) | |
| 1 | g.215640691del | CA2573131538 | USH2A | c.14835del (p.Val4946TrpfsTer4) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215640691A>C | CA423306901 | USH2A | c.14835T>G (p.Ser4945=) | COSMIC COSMIC |
| 1 | g.215640691A>G | CA423306902 | USH2A | c.14835T>C (p.Ser4945=) | |
| 1 | g.215640691A>T | CA423306903 | USH2A | c.14835T>A (p.Ser4945=) | |
| 1 | g.215640692G>A | CA344828324 | USH2A | c.14834C>T (p.Ser4945Phe) | COSMIC COSMIC |
| 1 | g.215640692G>C | CA344828331 | USH2A | c.14834C>G (p.Ser4945Cys) | |
| 1 | g.215640692G>T | CA344828328 | USH2A | c.14834C>A (p.Ser4945Tyr) | |
| 1 | g.215640693A>C | CA344828334 | USH2A | c.14833T>G (p.Ser4945Ala) | |
| 1 | g.215640693A>G | CA344828345 | USH2A | c.14833T>C (p.Ser4945Pro) | |
| 1 | g.215640693A>T | CA344828347 | USH2A | c.14833T>A (p.Ser4945Thr) | |
| 1 | g.215640694C>A | CA1392905 | USH2A | c.14832G>T (p.Leu4944Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215640694C= | CA1146458062 | USH2A | c.14832G= (p.Leu4944=) | |
| 1 | g.215640694C>G | CA344828357 | USH2A | c.14832G>C (p.Leu4944Phe) | |
| 1 | g.215640694C>T | CA1392906 | USH2A | c.14832G>A (p.Leu4944=) | ClinVar dbSNP ExAC gnomAD v4 |
| 1 | g.215640695A>C | CA344828361 | USH2A | c.14831T>G (p.Leu4944Trp) | |
| 1 | g.215640695A>G | CA344828363 | USH2A | c.14831T>C (p.Leu4944Ser) | |
| 1 | g.215640695A>T | CA344828367 | USH2A | c.14831T>A (p.Leu4944Ter) | gnomAD v4 |
| 1 | g.215640697del | CA2573131539 | USH2A | c.14831del (p.Leu4944CysfsTer6) | ClinVar dbSNP |
| 1 | g.215640696A>C | CA344828368 | USH2A | c.14830T>G (p.Leu4944Val) | |
| 1 | g.215640696A>G | CA423306904 | USH2A | c.14830T>C (p.Leu4944=) | |
| 1 | g.215640696A>T | CA344828369 | USH2A | c.14830T>A (p.Leu4944Met) | |
| 1 | g.215640697A>C | CA344828370 | USH2A | c.14829T>G (p.Asn4943Lys) | |
| 1 | g.215640697A>G | CA423306905 | USH2A | c.14829T>C (p.Asn4943=) | ClinVar dbSNP |
| 1 | g.215640697A>T | CA344828371 | USH2A | c.14829T>A (p.Asn4943Lys) | |
| 1 | g.215640698T>A | CA344828374 | USH2A | c.14828A>T (p.Asn4943Ile) | |
| 1 | g.215640698T>C | CA344828381 | USH2A | c.14828A>G (p.Asn4943Ser) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215640698T>G | CA344828377 | USH2A | c.14828A>C (p.Asn4943Thr) | |
| 1 | g.215640698T= | CA1220359731 | USH2A | c.14828A= (p.Asn4943=) | |
| 1 | g.215640699T>A | CA344828384 | USH2A | c.14827A>T (p.Asn4943Tyr) | |
| 1 | g.215640699T>C | CA344828388 | USH2A | c.14827A>G (p.Asn4943Asp) | |
| 1 | g.215640699T>G | CA344828390 | USH2A | c.14827A>C (p.Asn4943His) | |
| 1 | g.215640700G>A | CA423306906 | USH2A | c.14826C>T (p.Ser4942=) | |
| 1 | g.215640700G>C | CA344828393 | USH2A | c.14826C>G (p.Ser4942Arg) | |
| 1 | g.215640700G>T | CA344828395 | USH2A | c.14826C>A (p.Ser4942Arg) | ClinVar gnomAD v4 |
| 1 | g.215640701C>A | CA344828401 | USH2A | c.14825G>T (p.Ser4942Ile) | |
| 1 | g.215640701C>G | CA344828403 | USH2A | c.14825G>C (p.Ser4942Thr) | |
| 1 | g.215640701C>T | CA344828409 | USH2A | c.14825G>A (p.Ser4942Asn) | dbSNP gnomAD v4 |
| 1 | g.215640702T>A | CA344828412 | USH2A | c.14824A>T (p.Ser4942Cys) | |
| 1 | g.215640702T>C | CA1392907 | USH2A | c.14824A>G (p.Ser4942Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215640702T>G | CA344828420 | USH2A | c.14824A>C (p.Ser4942Arg) | |
| 1 | g.215640702T= | CA1220359732 | USH2A | c.14824A= (p.Ser4942=) | |
| 1 | g.215640703G>A | CA423306907 | USH2A | c.14823C>T (p.Asp4941=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.215640703G>C | CA344828431 | USH2A | c.14823C>G (p.Asp4941Glu) | |
| 1 | g.215640703G>T | CA344828423 | USH2A | c.14823C>A (p.Asp4941Glu) | |
| 1 | g.215640704T>A | CA344828437 | USH2A | c.14822A>T (p.Asp4941Val) | |
| 1 | g.215640704T>C | CA344828444 | USH2A | c.14822A>G (p.Asp4941Gly) | |
| 1 | g.215640704T>G | CA344828440 | USH2A | c.14822A>C (p.Asp4941Ala) | |
| 1 | g.215640705C>A | CA344828447 | USH2A | c.14821G>T (p.Asp4941Tyr) | |
| 1 | g.215640705C= | CA1220359733 | USH2A | c.14821G= (p.Asp4941=) | |
| 1 | g.215640705C>G | CA344828457 | USH2A | c.14821G>C (p.Asp4941His) | COSMIC COSMIC |
| 1 | g.215640705C>T | CA344828453 | USH2A | c.14821G>A (p.Asp4941Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215640706C>A | CA423306908 | USH2A | c.14820G>T (p.Val4940=) | gnomAD v3 gnomAD v4 |
| 1 | g.215640706C>G | CA423306909 | USH2A | c.14820G>C (p.Val4940=) | |
| 1 | g.215640706C>T | CA423306910 | USH2A | c.14820G>A (p.Val4940=) | |
| 1 | g.215640707A>C | CA344828459 | USH2A | c.14819T>G (p.Val4940Gly) | |
| 1 | g.215640707A>G | CA344828461 | USH2A | c.14819T>C (p.Val4940Ala) | |
| 1 | g.215640707A>T | CA344828467 | USH2A | c.14819T>A (p.Val4940Glu) | |
| 1 | g.215640708C>A | CA344828469 | USH2A | c.14818G>T (p.Val4940Leu) | |
| 1 | g.215640708C>G | CA344828470 | USH2A | c.14818G>C (p.Val4940Leu) | |
| 1 | g.215640708C>T | CA344828473 | USH2A | c.14818G>A (p.Val4940Met) | |
| 1 | g.215640709C>A | CA423306912 | USH2A | c.14817G>T (p.Ser4939=) | ClinVar gnomAD v4 |
| 1 | g.215640709C= | CA1144229137 | USH2A | c.14817G= (p.Ser4939=) | |
| 1 | g.215640709C>G | CA423306913 | USH2A | c.14817G>C (p.Ser4939=) | |
| 1 | g.215640709C>T | CA143368 | USH2A | c.14817G>A (p.Ser4939=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215640710G>A | CA1392908 | USH2A | c.14816C>T (p.Ser4939Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215640710G>C | CA344828492 | USH2A | c.14816C>G (p.Ser4939Trp) | |
| 1 | g.215640710G= | CA1220359734 | USH2A | c.14816C= (p.Ser4939=) | |
| 1 | g.215640710G>T | CA344828496 | USH2A | c.14816C>A (p.Ser4939Ter) | |
| 1 | g.215640711A>C | CA344828501 | USH2A | c.14815T>G (p.Ser4939Ala) | |
| 1 | g.215640711A>G | CA344828500 | USH2A | c.14815T>C (p.Ser4939Pro) | gnomAD v4 |
| 1 | g.215640711A>T | CA344828499 | USH2A | c.14815T>A (p.Ser4939Thr) | |
| 1 | g.215640714del | CA2586968099 | USH2A | c.14815del (p.Ser4939ArgfsTer11) | |
| 1 | g.215640712A>C | CA344828502 | USH2A | c.14814T>G (p.Phe4938Leu) | |
| 1 | g.215640712A>G | CA423306914 | USH2A | c.14814T>C (p.Phe4938=) | |
| 1 | g.215640712A>T | CA344828503 | USH2A | c.14814T>A (p.Phe4938Leu) | |
| 1 | g.215640713A= | CA1220359735 | USH2A | c.14813T= (p.Phe4938=) | |
| 1 | g.215640713A>C | CA344828504 | USH2A | c.14813T>G (p.Phe4938Cys) | |
| 1 | g.215640713A>G | CA1392909 | USH2A | c.14813T>C (p.Phe4938Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215640713A>T | CA344828507 | USH2A | c.14813T>A (p.Phe4938Tyr) | |
| 1 | g.215640714A>C | CA344828515 | USH2A | c.14812T>G (p.Phe4938Val) | |
| 1 | g.215640714A>G | CA344828518 | USH2A | c.14812T>C (p.Phe4938Leu) | |
| 1 | g.215640714A>T | CA344828525 | USH2A | c.14812T>A (p.Phe4938Ile) | |
| 1 | g.215640715del | CA2695199969 | USH2A | c.14811del (p.Ser4939ArgfsTer11) | ClinVar |
| 1 | g.215640715T>A | CA423306915 | USH2A | c.14811A>T (p.Pro4937=) | |
| 1 | g.215640715T>C | CA423306916 | USH2A | c.14811A>G (p.Pro4937=) | gnomAD v4 |
| 1 | g.215640715T>G | CA423306917 | USH2A | c.14811A>C (p.Pro4937=) | |
| 1 | g.215640716G>A | CA344828529 | USH2A | c.14810C>T (p.Pro4937Leu) | dbSNP gnomAD v2 COSMIC COSMIC |
| 1 | g.215640716G>C | CA344828540 | USH2A | c.14810C>G (p.Pro4937Arg) | |
| 1 | g.215640716G= | CA1220359736 | USH2A | c.14810C= (p.Pro4937=) | |
| 1 | g.215640716G>T | CA344828541 | USH2A | c.14810C>A (p.Pro4937Gln) | |
| 1 | g.215640717G>A | CA344828543 | USH2A | c.14809C>T (p.Pro4937Ser) | dbSNP gnomAD v4 |
| 1 | g.215640717G>C | CA344828545 | USH2A | c.14809C>G (p.Pro4937Ala) | gnomAD v4 |
| 1 | g.215640717G= | CA1220359737 | USH2A | c.14809C= (p.Pro4937=) | |
| 1 | g.215640717G>T | CA344828542 | USH2A | c.14809C>A (p.Pro4937Thr) | |
| 1 | g.215640718G>A | CA423306918 | USH2A | c.14808C>T (p.Ala4936=) | |
| 1 | g.215640718G>C | CA423306919 | USH2A | c.14808C>G (p.Ala4936=) | |
| 1 | g.215640718G>T | CA423306920 | USH2A | c.14808C>A (p.Ala4936=) | |
| 1 | g.215640720_215640724del | CA2695199970 | USH2A | c.14804_14808del (p.Arg4935ProfsTer17) | ClinVar |
| 1 | g.215640719G>A | CA344828549 | USH2A | c.14807C>T (p.Ala4936Val) | |
| 1 | g.215640719G>C | CA344828552 | USH2A | c.14807C>G (p.Ala4936Gly) | |
| 1 | g.215640719G= | CA1220359739 | USH2A | c.14807C= (p.Ala4936=) | |
| 1 | g.215640719G>T | CA344828556 | USH2A | c.14807C>A (p.Ala4936Asp) | ClinVar dbSNP |
| 1 | g.215640719_215640726delinsGCTCGGTA | CA1220359738 | USH2A | c.14800_14807delinsTACCGAGC (p.Tyr4934=) | |
| 1 | g.215640720C>A | CA344828558 | USH2A | c.14806G>T (p.Ala4936Ser) | |
| 1 | g.215640720C>G | CA344828564 | USH2A | c.14806G>C (p.Ala4936Pro) | |
| 1 | g.215640720C>T | CA344828567 | USH2A | c.14806G>A (p.Ala4936Thr) | |
| 1 | g.215640720_215640728delinsCTCGGTACT | CA1149063982 | USH2A | c.14798_14806delinsAGTACCGAG (p.Gln4933=) | |
| 1 | g.215640722_215640728del | CA1392910 | USH2A | c.14800_14806del (p.Tyr4934ProfsTer14) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215640721T>A | CA423306921 | USH2A | c.14805A>T (p.Arg4935=) | |
| 1 | g.215640721T>C | CA423306922 | USH2A | c.14805A>G (p.Arg4935=) | |
| 1 | g.215640721T>G | CA423306923 | USH2A | c.14805A>C (p.Arg4935=) | |
| 1 | g.215640722C>A | CA344828574 | USH2A | c.14804G>T (p.Arg4935Leu) | |
| 1 | g.215640722C= | CA1141785787 | USH2A | c.14804G= (p.Arg4935=) | |
| 1 | g.215640722C>G | CA344828580 | USH2A | c.14804G>C (p.Arg4935Pro) | |
| 1 | g.215640722C>T | CA1392911 | USH2A | c.14804G>A (p.Arg4935Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215640722_215640723insTGAGGTGGTACTGTCCACCGAAAATGG | CA1220359740 | USH2A | c.14803_14804insCCATTTTCGGTGGACAGTACCACCTCA (p.Tyr4934_Arg4935insProIlePheGlyGlyGlnTyrHisLeu) | dbSNP |
| 1 | g.215640723G>A | CA273457 | USH2A | c.14803C>T (p.Arg4935Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215640723G>C | CA344828583 | USH2A | c.14803C>G (p.Arg4935Gly) | gnomAD v4 |
| 1 | g.215640723G= | CA1142134043 | USH2A | c.14803C= (p.Arg4935=) | |
| 1 | g.215640723G>T | CA423306924 | USH2A | c.14803C>A (p.Arg4935=) | ClinVar dbSNP |
| 1 | g.215640724G>A | CA423306925 | USH2A | c.14802C>T (p.Tyr4934=) | |
| 1 | g.215640724G>C | CA344828586 | USH2A | c.14802C>G (p.Tyr4934Ter) | ClinVar |
| 1 | g.215640724G>T | CA344828588 | USH2A | c.14802C>A (p.Tyr4934Ter) | ClinVar |
| 1 | g.215640725T>A | CA344828594 | USH2A | c.14801A>T (p.Tyr4934Phe) | |
| 1 | g.215640725T>C | CA344828598 | USH2A | c.14801A>G (p.Tyr4934Cys) | COSMIC COSMIC |
| 1 | g.215640725T>G | CA344828595 | USH2A | c.14801A>C (p.Tyr4934Ser) | |
| 1 | g.215640726A>C | CA344828606 | USH2A | c.14800T>G (p.Tyr4934Asp) | |
| 1 | g.215640726A>G | CA344828610 | USH2A | c.14800T>C (p.Tyr4934His) | |
| 1 | g.215640726A>T | CA344828614 | USH2A | c.14800T>A (p.Tyr4934Asn) | |
| 1 | g.215640727C>A | CA344828618 | USH2A | c.14799G>T (p.Gln4933His) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215640727C= | CA1220359741 | USH2A | c.14799G= (p.Gln4933=) | |
| 1 | g.215640727C>G | CA344828622 | USH2A | c.14799G>C (p.Gln4933His) | |
| 1 | g.215640727C>T | CA423306926 | USH2A | c.14799G>A (p.Gln4933=) | |
| 1 | g.215640728T>A | CA1392912 | USH2A | c.14798A>T (p.Gln4933Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215640728T>C | CA344828626 | USH2A | c.14798A>G (p.Gln4933Arg) | |
| 1 | g.215640728T>G | CA344828627 | USH2A | c.14798A>C (p.Gln4933Pro) | gnomAD v4 |
| 1 | g.215640728T= | CA1220359742 | USH2A | c.14798A= (p.Gln4933=) | |
| 1 | g.215640729G>A | CA344828629 | USH2A | c.14797C>T (p.Gln4933Ter) | COSMIC COSMIC |
| 1 | g.215640729G>C | CA344828630 | USH2A | c.14797C>G (p.Gln4933Glu) | gnomAD v4 |
| 1 | g.215640729G>T | CA344828634 | USH2A | c.14797C>A (p.Gln4933Lys) | |
| 1 | g.215640730A= | CA1220359743 | USH2A | c.14796T= (p.Pro4932=) | |
| 1 | g.215640730A>C | CA423306927 | USH2A | c.14796T>G (p.Pro4932=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215640730A>G | CA423306928 | USH2A | c.14796T>C (p.Pro4932=) | |
| 1 | g.215640730A>T | CA423306929 | USH2A | c.14796T>A (p.Pro4932=) | dbSNP |
| 1 | g.215640731G>A | CA344828648 | USH2A | c.14795C>T (p.Pro4932Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215640731G>C | CA344828644 | USH2A | c.14795C>G (p.Pro4932Arg) | |
| 1 | g.215640731G= | CA1220359744 | USH2A | c.14795C= (p.Pro4932=) | |
| 1 | g.215640731G>T | CA344828641 | USH2A | c.14795C>A (p.Pro4932His) | |
| 1 | g.215640732G>A | CA344828653 | USH2A | c.14794C>T (p.Pro4932Ser) | |
| 1 | g.215640732G>C | CA344828655 | USH2A | c.14794C>G (p.Pro4932Ala) | |
| 1 | g.215640732G>T | CA344828654 | USH2A | c.14794C>A (p.Pro4932Thr) | |
| 1 | g.215640733C>A | CA344828656 | USH2A | c.14793G>T (p.Leu4931Phe) | |
| 1 | g.215640733C>G | CA344828658 | USH2A | c.14793G>C (p.Leu4931Phe) | |
| 1 | g.215640733C>T | CA423306930 | USH2A | c.14793G>A (p.Leu4931=) | |
| 1 | g.215640734A= | CA1220359745 | USH2A | c.14792T= (p.Leu4931=) | |
| 1 | g.215640734A>C | CA344828660 | USH2A | c.14792T>G (p.Leu4931Trp) | |
| 1 | g.215640734A>G | CA344828668 | USH2A | c.14792T>C (p.Leu4931Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215640734A>T | CA344828669 | USH2A | c.14792T>A (p.Leu4931Ter) | |
| 1 | g.215640734dup | CA2586968102 | USH2A | c.14792dup (p.Leu4931PhefsTer23) | |
| 1 | g.215640735C>A | CA344828672 | USH2A | c.14792-1G>T (n.14792-1G>T) | ClinVar |
| 1 | g.215640735C>G | CA344828673 | USH2A | c.14792-1G>C (n.14792-1G>C) | |
| 1 | g.215640735C>T | CA344828674 | USH2A | c.14792-1G>A (n.14792-1G>A) | ClinVar |
| 1 | g.215640736T>A | CA344828675 | USH2A | c.14792-2A>T (n.14792-2A>T) | |
| 1 | g.215640736T>C | CA228956 | USH2A | c.14792-2A>G (n.14792-2A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215640736T>G | CA344828679 | USH2A | c.14792-2A>C (n.14792-2A>C) | COSMIC |
| 1 | g.215640736T= | CA1141581408 | USH2A | c.14792-2A= (n.14792-2A=) | |
| 1 | g.215640737G>A | CA1220359747 | USH2A | c.14792-3C>T (n.14792-3C>T) | dbSNP gnomAD v4 |
| 1 | g.215640737G= | CA1220359746 | USH2A | c.14792-3C= (n.14792-3C=) | |
| 1 | g.215640738T>C | CA731346066 | USH2A | c.14792-4A>G (n.14792-4A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215640738T>G | CA645519359 | USH2A | c.14792-4A>C (n.14792-4A>C) | ClinVar gnomAD v4 COSMIC COSMIC |
| 1 | g.215640738T= | CA1220359748 | USH2A | c.14792-4A= (n.14792-4A=) | |
| 1 | g.215640739G>A | CA529002048 | USH2A | c.14792-5C>T (n.14792-5C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215640739G= | CA1220359749 | USH2A | c.14792-5C= (n.14792-5C=) | |
| 1 | g.215640739_215640746del | CA2747716376 | USH2A | c.14792-12_14792-5del (n.14792-12_14792-5del) | |
| 1 | g.215640740G>A | CA2574001746 | USH2A | c.14792-6C>T (n.14792-6C>T) | |
| 1 | g.215640740G>C | CA2650498062 | USH2A | c.14792-6C>G (n.14792-6C>G) | gnomAD v4 |
| 1 | g.215640741G>A | CA2580062079 | USH2A | c.14792-7C>T (n.14792-7C>T) | ClinVar |
| 1 | g.215640741G>C | CA2650498063 | USH2A | c.14792-7C>G (n.14792-7C>G) | gnomAD v4 |
| 1 | g.215640741G>T | CA2747716377 | USH2A | c.14792-7C>A (n.14792-7C>A) | |
| 1 | g.215640742G>T | CA2650498064 | USH2A | c.14792-8C>A (n.14792-8C>A) | gnomAD v4 |
| 1 | g.215640743A>G | CA2573131541 | USH2A | c.14792-9T>C (n.14792-9T>C) | ClinVar dbSNP |
| 1 | g.215640744G>A | CA1392913 | USH2A | c.14792-10C>T (n.14792-10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215640744G>C | CA1220359751 | USH2A | c.14792-10C>G (n.14792-10C>G) | dbSNP |
| 1 | g.215640744G= | CA1220359750 | USH2A | c.14792-10C= (n.14792-10C=) | |
| 1 | g.215640745A= | CA1220359752 | USH2A | c.14792-11T= (n.14792-11T=) | |
| 1 | g.215640745A>T | CA1392914 | USH2A | c.14792-11T>A (n.14792-11T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215640746A>C | CA2650498065 | USH2A | c.14792-12T>G (n.14792-12T>G) | gnomAD v4 |
| 1 | g.215640748G>A | CA1012184883 | USH2A | c.14792-14C>T (n.14792-14C>T) | gnomAD v3 gnomAD v4 |
| 1 | g.215640748G>C | CA1392916 | USH2A | c.14792-14C>G (n.14792-14C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215640748G= | CA1143618508 | USH2A | c.14792-14C= (n.14792-14C=) | |
| 1 | g.215640748G>T | CA2650498067 | USH2A | c.14792-14C>A (n.14792-14C>A) | gnomAD v4 |
| 1 | g.215640748_215640797delinsGTTGTATGTTCTAAAAAGGGTAACCTCTTTGAAGGAGTGCAGGTGTGCAC | CA1220359753 | USH2A | c.14792-63_14792-14delinsGTGCACACCTGCACTCCTTCAAAGAGGTTACCCTTTTTAGAACATACAAC (n.14792-63_14792-14delinsGTGCACACCTGCACTCCTTCAAAGAGGTTACCCTTTTTAGAACATACAAC) |