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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.215675535_215675559dup | CA2650500678 | USH2A | c.12356_12380dup (p.Tyr4128ProfsTer33) | gnomAD v4 |
| 1 | g.215675543T>A | CA344851130 | USH2A | c.12368A>T (p.Asp4123Val) | |
| 1 | g.215675543T>C | CA344851132 | USH2A | c.12368A>G (p.Asp4123Gly) | gnomAD v4 |
| 1 | g.215675543T>G | CA344851134 | USH2A | c.12368A>C (p.Asp4123Ala) | |
| 1 | g.215675544C>A | CA344851137 | USH2A | c.12367G>T (p.Asp4123Tyr) | |
| 1 | g.215675544C= | CA1220373975 | USH2A | c.12367G= (p.Asp4123=) | |
| 1 | g.215675544C>G | CA344851135 | USH2A | c.12367G>C (p.Asp4123His) | dbSNP |
| 1 | g.215675544C>T | CA344851136 | USH2A | c.12367G>A (p.Asp4123Asn) | |
| 1 | g.215675545C>A | CA423311822 | USH2A | c.12366G>T (p.Leu4122=) | |
| 1 | g.215675545C>G | CA423311825 | USH2A | c.12366G>C (p.Leu4122=) | |
| 1 | g.215675545C>T | CA423311824 | USH2A | c.12366G>A (p.Leu4122=) | |
| 1 | g.215675546A>C | CA344851139 | USH2A | c.12365T>G (p.Leu4122Arg) | |
| 1 | g.215675546A>G | CA344851141 | USH2A | c.12365T>C (p.Leu4122Pro) | |
| 1 | g.215675546A>T | CA344851143 | USH2A | c.12365T>A (p.Leu4122Gln) | |
| 1 | g.215675547G>A | CA423311831 | USH2A | c.12364C>T (p.Leu4122=) | dbSNP gnomAD v4 |
| 1 | g.215675547G>C | CA344851144 | USH2A | c.12364C>G (p.Leu4122Val) | |
| 1 | g.215675547G= | CA1220373976 | USH2A | c.12364C= (p.Leu4122=) | |
| 1 | g.215675547G>T | CA344851145 | USH2A | c.12364C>A (p.Leu4122Met) | dbSNP |
| 1 | g.215675548G>A | CA423311833 | USH2A | c.12363C>T (p.Arg4121=) | |
| 1 | g.215675548G>C | CA423311834 | USH2A | c.12363C>G (p.Arg4121=) | |
| 1 | g.215675548G>T | CA423311836 | USH2A | c.12363C>A (p.Arg4121=) | |
| 1 | g.215675549C>A | CA344851147 | USH2A | c.12362G>T (p.Arg4121Leu) | dbSNP |
| 1 | g.215675549C= | CA1144229172 | USH2A | c.12362G= (p.Arg4121=) | |
| 1 | g.215675549C>G | CA344851149 | USH2A | c.12362G>C (p.Arg4121Pro) | |
| 1 | g.215675549C>T | CA143288 | USH2A | c.12362G>A (p.Arg4121His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215675550G>A | CA1393480 | USH2A | c.12361C>T (p.Arg4121Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.215675550G>C | CA344851151 | USH2A | c.12361C>G (p.Arg4121Gly) | |
| 1 | g.215675550G= | CA1220373977 | USH2A | c.12361C= (p.Arg4121=) | |
| 1 | g.215675550G>T | CA37413212 | USH2A | c.12361C>A (p.Arg4121Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215675550_215675551del | CA2747717664 | USH2A | c.12360_12361del (p.Arg4121ProfsTer?) | |
| 1 | g.215675551G>A | CA1393481 | USH2A | c.12360C>T (p.Arg4120=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675551G>C | CA423311849 | USH2A | c.12360C>G (p.Arg4120=) | |
| 1 | g.215675551G= | CA1220373978 | USH2A | c.12360C= (p.Arg4120=) | |
| 1 | g.215675551G>T | CA423311843 | USH2A | c.12360C>A (p.Arg4120=) | |
| 1 | g.215675552_215675553dup | CA731337656 | USH2A | c.12359_12360dup (p.Arg4121AlafsTer11) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215675552C>A | CA344851156 | USH2A | c.12359G>T (p.Arg4120Leu) | |
| 1 | g.215675552C= | CA1142963843 | USH2A | c.12359G= (p.Arg4120=) | |
| 1 | g.215675552C>G | CA344851153 | USH2A | c.12359G>C (p.Arg4120Pro) | |
| 1 | g.215675552C>T | CA1393482 | USH2A | c.12359G>A (p.Arg4120His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215675553G>A | CA179517 | USH2A | c.12358C>T (p.Arg4120Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675553G>C | CA344851161 | USH2A | c.12358C>G (p.Arg4120Gly) | |
| 1 | g.215675553G= | CA1148224965 | USH2A | c.12358C= (p.Arg4120=) | |
| 1 | g.215675553G>T | CA344851162 | USH2A | c.12358C>A (p.Arg4120Ser) | gnomAD v4 |
| 1 | g.215675554del | CA2747717665 | USH2A | c.12358del (p.Arg4120AlafsTer11) | |
| 1 | g.215675554G>A | CA423311857 | USH2A | c.12357C>T (p.Phe4119=) | ClinVar gnomAD v4 |
| 1 | g.215675554G>C | CA344851163 | USH2A | c.12357C>G (p.Phe4119Leu) | |
| 1 | g.215675554G>T | CA344851164 | USH2A | c.12357C>A (p.Phe4119Leu) | COSMIC COSMIC |
| 1 | g.215675555A= | CA1220373979 | USH2A | c.12356T= (p.Phe4119=) | |
| 1 | g.215675555A>C | CA344851165 | USH2A | c.12356T>G (p.Phe4119Cys) | |
| 1 | g.215675555A>G | CA1393483 | USH2A | c.12356T>C (p.Phe4119Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675555A>T | CA344851166 | USH2A | c.12356T>A (p.Phe4119Tyr) | |
| 1 | g.215675556A>C | CA344851168 | USH2A | c.12355T>G (p.Phe4119Val) | |
| 1 | g.215675556A>G | CA344851169 | USH2A | c.12355T>C (p.Phe4119Leu) | |
| 1 | g.215675556A>T | CA344851170 | USH2A | c.12355T>A (p.Phe4119Ile) | |
| 1 | g.215675557G>A | CA423311868 | USH2A | c.12354C>T (p.Leu4118=) | |
| 1 | g.215675557G>C | CA423311870 | USH2A | c.12354C>G (p.Leu4118=) | ClinVar dbSNP |
| 1 | g.215675557G>T | CA423311872 | USH2A | c.12354C>A (p.Leu4118=) | |
| 1 | g.215675558A>C | CA344851172 | USH2A | c.12353T>G (p.Leu4118Arg) | |
| 1 | g.215675558A>G | CA344851175 | USH2A | c.12353T>C (p.Leu4118Pro) | |
| 1 | g.215675558A>T | CA344851174 | USH2A | c.12353T>A (p.Leu4118His) | |
| 1 | g.215675559G>A | CA344851177 | USH2A | c.12352C>T (p.Leu4118Phe) | |
| 1 | g.215675559G>C | CA344851178 | USH2A | c.12352C>G (p.Leu4118Val) | |
| 1 | g.215675559G>T | CA344851179 | USH2A | c.12352C>A (p.Leu4118Ile) | |
| 1 | g.215675559_215675560delinsGA | CA1220373980 | USH2A | c.12351_12352delinsTC (p.Phe4117=) | |
| 1 | g.215675560A>C | CA344851181 | USH2A | c.12351T>G (p.Phe4117Leu) | |
| 1 | g.215675560A>G | CA423311877 | USH2A | c.12351T>C (p.Phe4117=) | ClinVar |
| 1 | g.215675560A>T | CA344851183 | USH2A | c.12351T>A (p.Phe4117Leu) | |
| 1 | g.215675562del | CA529002116 | USH2A | c.12351del (p.Leu4118SerfsTer13) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675561A= | CA1220373981 | USH2A | c.12350T= (p.Phe4117=) | |
| 1 | g.215675561A>C | CA344851185 | USH2A | c.12350T>G (p.Phe4117Cys) | |
| 1 | g.215675561A>G | CA344851186 | USH2A | c.12350T>C (p.Phe4117Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215675561A>T | CA344851188 | USH2A | c.12350T>A (p.Phe4117Tyr) | |
| 1 | g.215675561_215675562insG | CA2558290317 | USH2A | c.12349_12350insC (p.Phe4117SerfsTer?) | |
| 1 | g.215675562A= | CA1220373982 | USH2A | c.12349T= (p.Phe4117=) | |
| 1 | g.215675562A>C | CA344851190 | USH2A | c.12349T>G (p.Phe4117Val) | |
| 1 | g.215675562A>G | CA1393484 | USH2A | c.12349T>C (p.Phe4117Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675562A>T | CA344851192 | USH2A | c.12349T>A (p.Phe4117Ile) | |
| 1 | g.215675563C>A | CA344851193 | USH2A | c.12348G>T (p.Gln4116His) | |
| 1 | g.215675563C= | CA1220373983 | USH2A | c.12348G= (p.Gln4116=) | |
| 1 | g.215675563C>G | CA1393485 | USH2A | c.12348G>C (p.Gln4116His) | dbSNP ExAC gnomAD v4 |
| 1 | g.215675563C>T | CA423311884 | USH2A | c.12348G>A (p.Gln4116=) | |
| 1 | g.215675563_215675568del | CA2747717666 | USH2A | c.12343_12348del (p.Arg4115_Gln4116del) | |
| 1 | g.215675564T>A | CA344851196 | USH2A | c.12347A>T (p.Gln4116Leu) | |
| 1 | g.215675564T>C | CA344851197 | USH2A | c.12347A>G (p.Gln4116Arg) | |
| 1 | g.215675564T>G | CA344851199 | USH2A | c.12347A>C (p.Gln4116Pro) | dbSNP gnomAD v4 |
| 1 | g.215675564T= | CA1220373984 | USH2A | c.12347A= (p.Gln4116=) | |
| 1 | g.215675565G>A | CA344851201 | USH2A | c.12346C>T (p.Gln4116Ter) | |
| 1 | g.215675565G>C | CA344851202 | USH2A | c.12346C>G (p.Gln4116Glu) | |
| 1 | g.215675565G>T | CA344851203 | USH2A | c.12346C>A (p.Gln4116Lys) | |
| 1 | g.215675566A>C | CA423311894 | USH2A | c.12345T>G (p.Arg4115=) | |
| 1 | g.215675566A>G | CA423311893 | USH2A | c.12345T>C (p.Arg4115=) | ClinVar dbSNP |
| 1 | g.215675566A>T | CA423311895 | USH2A | c.12345T>A (p.Arg4115=) | |
| 1 | g.215675567C>A | CA344851207 | USH2A | c.12344G>T (p.Arg4115Leu) | |
| 1 | g.215675567C= | CA1220373985 | USH2A | c.12344G= (p.Arg4115=) | |
| 1 | g.215675567C>G | CA344851205 | USH2A | c.12344G>C (p.Arg4115Pro) | |
| 1 | g.215675567C>T | CA1393486 | USH2A | c.12344G>A (p.Arg4115His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675568del | CA2747717667 | USH2A | c.12343del (p.Arg4115ValfsTer16) | |
| 1 | g.215675568G>A | CA143286 | USH2A | c.12343C>T (p.Arg4115Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215675568G>C | CA344851208 | USH2A | c.12343C>G (p.Arg4115Gly) | |
| 1 | g.215675568G= | CA1141189264 | USH2A | c.12343C= (p.Arg4115=) | |
| 1 | g.215675568G>T | CA344851209 | USH2A | c.12343C>A (p.Arg4115Ser) | |
| 1 | g.215675569A>C | CA344851211 | USH2A | c.12342T>G (p.Asn4114Lys) | |
| 1 | g.215675569A>G | CA423311901 | USH2A | c.12342T>C (p.Asn4114=) | |
| 1 | g.215675569A>T | CA344851212 | USH2A | c.12342T>A (p.Asn4114Lys) | |
| 1 | g.215675570T>A | CA344851216 | USH2A | c.12341A>T (p.Asn4114Ile) | |
| 1 | g.215675570T>C | CA344851213 | USH2A | c.12341A>G (p.Asn4114Ser) | |
| 1 | g.215675570T>G | CA344851214 | USH2A | c.12341A>C (p.Asn4114Thr) | |
| 1 | g.215675570_215675571del | CA2747717669 | USH2A | c.12340_12341del (p.Asn4114SerfsTer?) | |
| 1 | g.215675571_215675572insGTTTT | CA2747717668 | USH2A | c.12341_12342insAACAA (p.Asn4114LysfsTer19) | |
| 1 | g.215675571T>A | CA344851217 | USH2A | c.12340A>T (p.Asn4114Tyr) | |
| 1 | g.215675571T>C | CA344851218 | USH2A | c.12340A>G (p.Asn4114Asp) | |
| 1 | g.215675571T>G | CA344851220 | USH2A | c.12340A>C (p.Asn4114His) | |
| 1 | g.215675572C>A | CA344851222 | USH2A | c.12339G>T (p.Leu4113Phe) | gnomAD v4 |
| 1 | g.215675572C= | CA1220373986 | USH2A | c.12339G= (p.Leu4113=) | |
| 1 | g.215675572C>G | CA344851224 | USH2A | c.12339G>C (p.Leu4113Phe) | |
| 1 | g.215675572C>T | CA423311911 | USH2A | c.12339G>A (p.Leu4113=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675573A>C | CA344851225 | USH2A | c.12338T>G (p.Leu4113Trp) | |
| 1 | g.215675573A>G | CA344851226 | USH2A | c.12338T>C (p.Leu4113Ser) | |
| 1 | g.215675573A>T | CA344851227 | USH2A | c.12338T>A (p.Leu4113Ter) | gnomAD v4 |
| 1 | g.215675574A>C | CA344851228 | USH2A | c.12337T>G (p.Leu4113Val) | |
| 1 | g.215675574A>G | CA423311914 | USH2A | c.12337T>C (p.Leu4113=) | |
| 1 | g.215675574A>T | CA344851229 | USH2A | c.12337T>A (p.Leu4113Met) | |
| 1 | g.215675575A>C | CA423311917 | USH2A | c.12336T>G (p.Gly4112=) | |
| 1 | g.215675575A>G | CA423311919 | USH2A | c.12336T>C (p.Gly4112=) | |
| 1 | g.215675575A>T | CA423311920 | USH2A | c.12336T>A (p.Gly4112=) | |
| 1 | g.215675576C>A | CA344851230 | USH2A | c.12335G>T (p.Gly4112Val) | |
| 1 | g.215675576C= | CA1145494942 | USH2A | c.12335G= (p.Gly4112=) | |
| 1 | g.215675576C>G | CA1393488 | USH2A | c.12335G>C (p.Gly4112Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675576C>T | CA1393487 | USH2A | c.12335G>A (p.Gly4112Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675577C>A | CA344851232 | USH2A | c.12334G>T (p.Gly4112Cys) | |
| 1 | g.215675577C= | CA1142181995 | USH2A | c.12334G= (p.Gly4112=) | |
| 1 | g.215675577C>G | CA344851234 | USH2A | c.12334G>C (p.Gly4112Arg) | |
| 1 | g.215675577C>T | CA1393489 | USH2A | c.12334G>A (p.Gly4112Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675578A= | CA1220373987 | USH2A | c.12333T= (p.Ser4111=) | |
| 1 | g.215675578A>C | CA423311932 | USH2A | c.12333T>G (p.Ser4111=) | |
| 1 | g.215675578A>G | CA37413262 | USH2A | c.12333T>C (p.Ser4111=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675578A>T | CA423311934 | USH2A | c.12333T>A (p.Ser4111=) | |
| 1 | g.215675578dup | CA916082116 | USH2A | c.12333dup (p.Gly4112TrpfsTer?) | ClinVar dbSNP |
| 1 | g.215675579G>A | CA143284 | USH2A | c.12332C>T (p.Ser4111Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675579G>C | CA344851237 | USH2A | c.12332C>G (p.Ser4111Cys) | |
| 1 | g.215675579G= | CA1141846177 | USH2A | c.12332C= (p.Ser4111=) | |
| 1 | g.215675579G>T | CA344851238 | USH2A | c.12332C>A (p.Ser4111Tyr) | |
| 1 | g.215675580A>C | CA344851239 | USH2A | c.12331T>G (p.Ser4111Ala) | |
| 1 | g.215675580A>G | CA344851240 | USH2A | c.12331T>C (p.Ser4111Pro) | |
| 1 | g.215675580A>T | CA344851241 | USH2A | c.12331T>A (p.Ser4111Thr) | |
| 1 | g.215675581G>A | CA423311944 | USH2A | c.12330C>T (p.Tyr4110=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215675581G>C | CA344851243 | USH2A | c.12330C>G (p.Tyr4110Ter) | |
| 1 | g.215675581G>T | CA344851244 | USH2A | c.12330C>A (p.Tyr4110Ter) | COSMIC COSMIC |
| 1 | g.215675582T>A | CA344851246 | USH2A | c.12329A>T (p.Tyr4110Phe) | |
| 1 | g.215675582T>C | CA344851247 | USH2A | c.12329A>G (p.Tyr4110Cys) | |
| 1 | g.215675582T>G | CA344851248 | USH2A | c.12329A>C (p.Tyr4110Ser) | |
| 1 | g.215675583A= | CA1144558659 | USH2A | c.12328T= (p.Tyr4110=) | |
| 1 | g.215675583A>C | CA37413268 | USH2A | c.12328T>G (p.Tyr4110Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215675583A>G | CA1393490 | USH2A | c.12328T>C (p.Tyr4110His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675583A>T | CA344851249 | USH2A | c.12328T>A (p.Tyr4110Asn) | ClinVar dbSNP |
| 1 | g.215675584C>A | CA344851252 | USH2A | c.12327G>T (p.Glu4109Asp) | dbSNP gnomAD v2 |
| 1 | g.215675584C= | CA1220373988 | USH2A | c.12327G= (p.Glu4109=) | |
| 1 | g.215675584C>G | CA344851254 | USH2A | c.12327G>C (p.Glu4109Asp) | |
| 1 | g.215675584C>T | CA423311951 | USH2A | c.12327G>A (p.Glu4109=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215675585T>A | CA344851256 | USH2A | c.12326A>T (p.Glu4109Val) | |
| 1 | g.215675585T>C | CA344851258 | USH2A | c.12326A>G (p.Glu4109Gly) | |
| 1 | g.215675585T>G | CA344851259 | USH2A | c.12326A>C (p.Glu4109Ala) | |
| 1 | g.215675586C>A | CA344851260 | USH2A | c.12325G>T (p.Glu4109Ter) | COSMIC COSMIC |
| 1 | g.215675586C>G | CA344851262 | USH2A | c.12325G>C (p.Glu4109Gln) | |
| 1 | g.215675586C>T | CA344851263 | USH2A | c.12325G>A (p.Glu4109Lys) | gnomAD v4 COSMIC COSMIC |
| 1 | g.215675587C>A | CA423311959 | USH2A | c.12324G>T (p.Leu4108=) | |
| 1 | g.215675587C>G | CA423311964 | USH2A | c.12324G>C (p.Leu4108=) | |
| 1 | g.215675587C>T | CA423311965 | USH2A | c.12324G>A (p.Leu4108=) | |
| 1 | g.215675588A>C | CA344851265 | USH2A | c.12323T>G (p.Leu4108Arg) | gnomAD v4 |
| 1 | g.215675588A>G | CA344851266 | USH2A | c.12323T>C (p.Leu4108Pro) | COSMIC COSMIC |
| 1 | g.215675588A>T | CA344851267 | USH2A | c.12323T>A (p.Leu4108Gln) | |
| 1 | g.215675589G>A | CA423311967 | USH2A | c.12322C>T (p.Leu4108=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675589G>C | CA344851269 | USH2A | c.12322C>G (p.Leu4108Val) | |
| 1 | g.215675589G= | CA1220373989 | USH2A | c.12322C= (p.Leu4108=) | |
| 1 | g.215675589G>T | CA344851270 | USH2A | c.12322C>A (p.Leu4108Met) | |
| 1 | g.215675590G>A | CA423311968 | USH2A | c.12321C>T (p.Phe4107=) | ClinVar |
| 1 | g.215675590G>C | CA344851272 | USH2A | c.12321C>G (p.Phe4107Leu) | |
| 1 | g.215675590G>T | CA344851273 | USH2A | c.12321C>A (p.Phe4107Leu) | |
| 1 | g.215675591A>C | CA344851274 | USH2A | c.12320T>G (p.Phe4107Cys) | ClinVar gnomAD v4 |
| 1 | g.215675591A>G | CA344851277 | USH2A | c.12320T>C (p.Phe4107Ser) | |
| 1 | g.215675591A>T | CA344851276 | USH2A | c.12320T>A (p.Phe4107Tyr) | |
| 1 | g.215675592A>C | CA344851278 | USH2A | c.12319T>G (p.Phe4107Val) | |
| 1 | g.215675592A>G | CA344851281 | USH2A | c.12319T>C (p.Phe4107Leu) | |
| 1 | g.215675592A>T | CA344851279 | USH2A | c.12319T>A (p.Phe4107Ile) | gnomAD v4 |
| 1 | g.215675592_215675593delinsAC | CA1220373990 | USH2A | c.12318_12319delinsGT (p.Gly4106=) | |
| 1 | g.215675594_215675600del | CA2580062348 | USH2A | c.12313_12319del (p.Asp4105SerfsTer7) | ClinVar |
| 1 | g.215675592_215675610del | CA2747717670 | USH2A | c.12301_12319del (p.Asn4101SerfsTer7) | |
| 1 | g.215675593C>A | CA423311975 | USH2A | c.12318G>T (p.Gly4106=) | |
| 1 | g.215675593C= | CA1220373991 | USH2A | c.12318G= (p.Gly4106=) | |
| 1 | g.215675593C>G | CA423311976 | USH2A | c.12318G>C (p.Gly4106=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675593C>T | CA423311978 | USH2A | c.12318G>A (p.Gly4106=) | |
| 1 | g.215675595del | CA529002117 | USH2A | c.12318del (p.Phe4107SerfsTer7) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675594C>A | CA344851283 | USH2A | c.12317G>T (p.Gly4106Val) | |
| 1 | g.215675594C>G | CA344851284 | USH2A | c.12317G>C (p.Gly4106Ala) | |
| 1 | g.215675594C>T | CA344851286 | USH2A | c.12317G>A (p.Gly4106Glu) | |
| 1 | g.215675595C>A | CA344851287 | USH2A | c.12316G>T (p.Gly4106Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675595C= | CA1220373992 | USH2A | c.12316G= (p.Gly4106=) | |
| 1 | g.215675595C>G | CA344851288 | USH2A | c.12316G>C (p.Gly4106Arg) | |
| 1 | g.215675595C>T | CA344851290 | USH2A | c.12316G>A (p.Gly4106Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215675595_215675596del | CA2747717671 | USH2A | c.12315_12316del (p.Asp4105GlufsTer?) | |
| 1 | g.215675596G>A | CA1393491 | USH2A | c.12315C>T (p.Asp4105=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675596G>C | CA344851292 | USH2A | c.12315C>G (p.Asp4105Glu) | |
| 1 | g.215675596G= | CA1220373993 | USH2A | c.12315C= (p.Asp4105=) | |
| 1 | g.215675596G>T | CA344851293 | USH2A | c.12315C>A (p.Asp4105Glu) | |
| 1 | g.215675597T>A | CA344851295 | USH2A | c.12314A>T (p.Asp4105Val) | |
| 1 | g.215675597T>C | CA344851296 | USH2A | c.12314A>G (p.Asp4105Gly) | |
| 1 | g.215675597T>G | CA344851297 | USH2A | c.12314A>C (p.Asp4105Ala) | |
| 1 | g.215675598C>A | CA344851299 | USH2A | c.12313G>T (p.Asp4105Tyr) | |
| 1 | g.215675598C>G | CA344851303 | USH2A | c.12313G>C (p.Asp4105His) | |
| 1 | g.215675598C>T | CA344851301 | USH2A | c.12313G>A (p.Asp4105Asn) | gnomAD v4 |
| 1 | g.215675599A= | CA1220373994 | USH2A | c.12312T= (p.Ser4104=) | |
| 1 | g.215675599A>C | CA344851304 | USH2A | c.12312T>G (p.Ser4104Arg) | dbSNP gnomAD v2 |
| 1 | g.215675599A>G | CA1393492 | USH2A | c.12312T>C (p.Ser4104=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675599A>T | CA344851307 | USH2A | c.12312T>A (p.Ser4104Arg) | |
| 1 | g.215675600C>A | CA344851309 | USH2A | c.12311G>T (p.Ser4104Ile) | |
| 1 | g.215675600C>G | CA344851311 | USH2A | c.12311G>C (p.Ser4104Thr) | |
| 1 | g.215675600C>T | CA344851312 | USH2A | c.12311G>A (p.Ser4104Asn) | |
| 1 | g.215675601T>A | CA344851314 | USH2A | c.12310A>T (p.Ser4104Cys) | |
| 1 | g.215675601T>C | CA344851315 | USH2A | c.12310A>G (p.Ser4104Gly) | gnomAD v4 |
| 1 | g.215675601T>G | CA344851316 | USH2A | c.12310A>C (p.Ser4104Arg) | |
| 1 | g.215675601_215675602delinsTG | CA1220373995 | USH2A | c.12309_12310delinsCA (p.Phe4103=) | |
| 1 | g.215675602del | CA645509093 | USH2A | c.12309del (p.Phe4103LeufsTer11) | ClinVar dbSNP |
| 1 | g.215675602G>A | CA423312009 | USH2A | c.12309C>T (p.Phe4103=) | |
| 1 | g.215675602G>C | CA344851318 | USH2A | c.12309C>G (p.Phe4103Leu) | |
| 1 | g.215675602G>T | CA344851317 | USH2A | c.12309C>A (p.Phe4103Leu) | |
| 1 | g.215675603A>C | CA344851320 | USH2A | c.12308T>G (p.Phe4103Cys) | |
| 1 | g.215675603A>G | CA344851322 | USH2A | c.12308T>C (p.Phe4103Ser) | |
| 1 | g.215675603A>T | CA344851323 | USH2A | c.12308T>A (p.Phe4103Tyr) | gnomAD v4 |
| 1 | g.215675604A>C | CA344851325 | USH2A | c.12307T>G (p.Phe4103Val) | |
| 1 | g.215675604A>G | CA344851326 | USH2A | c.12307T>C (p.Phe4103Leu) | |
| 1 | g.215675604A>T | CA344851328 | USH2A | c.12307T>A (p.Phe4103Ile) | |
| 1 | g.215675605G>A | CA423312014 | USH2A | c.12306C>T (p.Ile4102=) | |
| 1 | g.215675605G>C | CA344851330 | USH2A | c.12306C>G (p.Ile4102Met) | ClinVar dbSNP |
| 1 | g.215675605G>T | CA423312017 | USH2A | c.12306C>A (p.Ile4102=) | |
| 1 | g.215675606A>C | CA344851331 | USH2A | c.12305T>G (p.Ile4102Ser) | |
| 1 | g.215675606A>G | CA344851333 | USH2A | c.12305T>C (p.Ile4102Thr) | |
| 1 | g.215675606A>T | CA344851334 | USH2A | c.12305T>A (p.Ile4102Asn) | ClinVar |
| 1 | g.215675606_215675609delinsATGT | CA1220373996 | USH2A | c.12302_12305delinsACAT (p.Asn4101=) | |
| 1 | g.215675607T>A | CA344851335 | USH2A | c.12304A>T (p.Ile4102Phe) | |
| 1 | g.215675607T>C | CA1393493 | USH2A | c.12304A>G (p.Ile4102Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675607T>G | CA344851338 | USH2A | c.12304A>C (p.Ile4102Leu) | |
| 1 | g.215675607T= | CA1144187467 | USH2A | c.12304A= (p.Ile4102=) | |
| 1 | g.215675610_215675612del | CA916082117 | USH2A | c.12302_12304del (p.Asn4101del) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215675608G>A | CA1393494 | USH2A | c.12303C>T (p.Asn4101=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675608G>C | CA344851341 | USH2A | c.12303C>G (p.Asn4101Lys) | |
| 1 | g.215675608G= | CA1220373997 | USH2A | c.12303C= (p.Asn4101=) | |
| 1 | g.215675608G>T | CA344851339 | USH2A | c.12303C>A (p.Asn4101Lys) | |
| 1 | g.215675609T>A | CA1393495 | USH2A | c.12302A>T (p.Asn4101Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675609T>C | CA37413281 | USH2A | c.12302A>G (p.Asn4101Ser) | dbSNP gnomAD v4 |
| 1 | g.215675609T>G | CA344851344 | USH2A | c.12302A>C (p.Asn4101Thr) | |
| 1 | g.215675609T= | CA1144115369 | USH2A | c.12302A= (p.Asn4101=) | |
| 1 | g.215675610T>A | CA344851346 | USH2A | c.12301A>T (p.Asn4101Tyr) | |
| 1 | g.215675610T>C | CA344851348 | USH2A | c.12301A>G (p.Asn4101Asp) | |
| 1 | g.215675610T>G | CA344851350 | USH2A | c.12301A>C (p.Asn4101His) | gnomAD v4 |
| 1 | g.215675611G>A | CA423312038 | USH2A | c.12300C>T (p.Tyr4100=) | gnomAD v4 |
| 1 | g.215675611G>C | CA344851351 | USH2A | c.12300C>G (p.Tyr4100Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215675611G= | CA1220373998 | USH2A | c.12300C= (p.Tyr4100=) | |
| 1 | g.215675611G>T | CA344851353 | USH2A | c.12300C>A (p.Tyr4100Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215675612T>A | CA344851355 | USH2A | c.12299A>T (p.Tyr4100Phe) | |
| 1 | g.215675612T>C | CA344851356 | USH2A | c.12299A>G (p.Tyr4100Cys) | dbSNP |
| 1 | g.215675612T>G | CA344851357 | USH2A | c.12299A>C (p.Tyr4100Ser) | |
| 1 | g.215675612T= | CA1220373999 | USH2A | c.12299A= (p.Tyr4100=) | |
| 1 | g.215675613A= | CA1220374000 | USH2A | c.12298T= (p.Tyr4100=) | |
| 1 | g.215675613A>C | CA344851361 | USH2A | c.12298T>G (p.Tyr4100Asp) | |
| 1 | g.215675613A>G | CA344851362 | USH2A | c.12298T>C (p.Tyr4100His) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675613A>T | CA344851359 | USH2A | c.12298T>A (p.Tyr4100Asn) | |
| 1 | g.215675614T>A | CA423312049 | USH2A | c.12297A>T (p.Thr4099=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675614T>C | CA423312050 | USH2A | c.12297A>G (p.Thr4099=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675614T>G | CA423312051 | USH2A | c.12297A>C (p.Thr4099=) | |
| 1 | g.215675614T= | CA1220374001 | USH2A | c.12297A= (p.Thr4099=) | |
| 1 | g.215675614_215675615insAGA | CA2747717672 | USH2A | c.12296_12297insTCT (p.Thr4099_Tyr4100insLeu) | |
| 1 | g.215675615G>A | CA344851367 | USH2A | c.12296C>T (p.Thr4099Ile) | |
| 1 | g.215675615G>C | CA344851364 | USH2A | c.12296C>G (p.Thr4099Arg) | |
| 1 | g.215675615G>T | CA344851365 | USH2A | c.12296C>A (p.Thr4099Lys) | |
| 1 | g.215675615_215675620del | CA2747717673 | USH2A | c.12295-4_12296del | |
| 1 | g.215675616T>A | CA344851369 | USH2A | c.12295A>T (p.Thr4099Ser) | |
| 1 | g.215675616T>C | CA344851370 | USH2A | c.12295A>G (p.Thr4099Ala) | gnomAD v4 |
| 1 | g.215675616T>G | CA344851371 | USH2A | c.12295A>C (p.Thr4099Pro) | gnomAD v4 |
| 1 | g.215675617C>A | CA344851372 | USH2A | c.12295-1G>T (n.12295-1G>T) | |
| 1 | g.215675617C>G | CA344851373 | USH2A | c.12295-1G>C (n.12295-1G>C) | |
| 1 | g.215675617C>T | CA344851374 | USH2A | c.12295-1G>A (n.12295-1G>A) | |
| 1 | g.215675618T>A | CA344851376 | USH2A | c.12295-2A>T (n.12295-2A>T) | |
| 1 | g.215675618T>C | CA262074 | USH2A | c.12295-2A>G (n.12295-2A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675618T>G | CA344851378 | USH2A | c.12295-2A>C (n.12295-2A>C) | |
| 1 | g.215675618T= | CA1142409510 | USH2A | c.12295-2A= (n.12295-2A=) | |
| 1 | g.215675619A= | CA1141189265 | USH2A | c.12295-3T= (n.12295-3T=) | |
| 1 | g.215675619A>G | CA1220374002 | USH2A | c.12295-3T>C (n.12295-3T>C) | dbSNP |
| 1 | g.215675619A>T | CA143283 | USH2A | c.12295-3T>A (n.12295-3T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675620del | CA2747717674 | USH2A | c.12295-4del (n.12295-4del) | |
| 1 | g.215675623_215675625del | CA2650500728 | USH2A | c.12295-7_12295-5del (n.12295-7_12295-5del) | gnomAD v4 |
| 1 | g.215675622G>A | CA2739275676 | USH2A | c.12295-6C>T (n.12295-6C>T) | ClinVar |
| 1 | g.215675622G>T | CA2747717675 | USH2A | c.12295-6C>A (n.12295-6C>A) | |
| 1 | g.215675623A= | CA1220374003 | USH2A | c.12295-7T= (n.12295-7T=) | |
| 1 | g.215675623A>T | CA1220374004 | USH2A | c.12295-7T>A (n.12295-7T>A) | dbSNP |
| 1 | g.215675624A>G | CA2499214461 | USH2A | c.12295-8T>C (n.12295-8T>C) | ClinVar dbSNP |
| 1 | g.215675624A>T | CA2519577038 | USH2A | c.12295-8T>A (n.12295-8T>A) | |
| 1 | g.215675625G>C | CA529002118 | USH2A | c.12295-9C>G (n.12295-9C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675625G= | CA1220374005 | USH2A | c.12295-9C= (n.12295-9C=) | |
| 1 | g.215675626G>A | CA2739275677 | USH2A | c.12295-10C>T (n.12295-10C>T) | ClinVar |
| 1 | g.215675626G>C | CA2580062349 | USH2A | c.12295-10C>G (n.12295-10C>G) | ClinVar gnomAD v4 |
| 1 | g.215675628C>T | CA2697554904 | USH2A | c.12295-12G>A (n.12295-12G>A) | ClinVar |
| 1 | g.215675629A>G | CA2697554905 | USH2A | c.12295-13T>C (n.12295-13T>C) | ClinVar |
| 1 | g.215675630G>C | CA2650500734 | USH2A | c.12295-14C>G (n.12295-14C>G) | gnomAD v4 |
| 1 | g.215675631A>G | CA2650500735 | USH2A | c.12295-15T>C (n.12295-15T>C) | gnomAD v4 |
| 1 | g.215675631A>T | CA2747717676 | USH2A | c.12295-15T>A (n.12295-15T>A) | |
| 1 | g.215675632A= | CA1220374006 | USH2A | c.12295-16T= (n.12295-16T=) | |
| 1 | g.215675632A>G | CA37413288 | USH2A | c.12295-16T>C (n.12295-16T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215675633_215675635del | CA2747717677 | USH2A | c.12295-18_12295-16del (n.12295-18_12295-16del) | |
| 1 | g.215675633G>A | CA731337804 | USH2A | c.12295-17C>T (n.12295-17C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215675633G= | CA1220374007 | USH2A | c.12295-17C= (n.12295-17C=) | |
| 1 | g.215675633_215675634insA | CA529002119 | USH2A | c.12295-18_12295-17insT (n.12295-18_12295-17insT) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675634C>A | CA37413291 | USH2A | c.12295-18G>T (n.12295-18G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675634C= | CA1143992730 | USH2A | c.12295-18G= (n.12295-18G=) | |
| 1 | g.215675634C>G | CA1393496 | USH2A | c.12295-18G>C (n.12295-18G>C) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.215675634C>T | CA2650500741 | USH2A | c.12295-18G>A (n.12295-18G>A) | gnomAD v4 |
| 1 | g.215675634_215675636del | CA2747717678 | USH2A | c.12295-20_12295-18del (n.12295-20_12295-18del) | |
| 1 | g.215675635A>G | CA2740223354 | USH2A | c.12295-19T>C (n.12295-19T>C) | |
| 1 | g.215675636_215675638del | CA2747717679 | USH2A | c.12295-21_12295-19del (n.12295-21_12295-19del) | |
| 1 | g.215675637A>G | CA2747717680 | USH2A | c.12295-21T>C (n.12295-21T>C) | |
| 1 | g.215675638A>C | CA2747717681 | USH2A | c.12295-22T>G (n.12295-22T>G) | |
| 1 | g.215675641del | CA2747717682 | USH2A | c.12295-23del (n.12295-23del) | |
| 1 | g.215675640_215675641del | CA2747717683 | USH2A | c.12295-24_12295-23del (n.12295-24_12295-23del) | |
| 1 | g.215675639_215675640insACT | CA2747717685 | USH2A | c.12295-24_12295-23insAGT (n.12295-24_12295-23insAGT) | |
| 1 | g.215675639_215675640insACAC | CA2747717684 | USH2A | c.12295-24_12295-23insGTGT (n.12295-24_12295-23insGTGT) | |
| 1 | g.215675640G>A | CA2747717686 | USH2A | c.12295-24C>T (n.12295-24C>T) | |
| 1 | g.215675640G>T | CA2747717687 | USH2A | c.12295-24C>A (n.12295-24C>A) | |
| 1 | g.215675640_215675641insAC | CA2747717688 | USH2A | c.12295-25_12295-24insGT (n.12295-25_12295-24insGT) | |
| 1 | g.215675641G= | CA1220374008 | USH2A | c.12295-25C= (n.12295-25C=) | |
| 1 | g.215675641G>T | CA529002120 | USH2A | c.12295-25C>A (n.12295-25C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675641_215675644del | CA2747717689 | USH2A | c.12295-28_12295-25del (n.12295-28_12295-25del) | |
| 1 | g.215675643_215675644del | CA2747717690 | USH2A | c.12295-27_12295-26del (n.12295-27_12295-26del) | |
| 1 | g.215675643T>C | CA2650500742 | USH2A | c.12295-27A>G (n.12295-27A>G) | gnomAD v4 |
| 1 | g.215675643T>G | CA2747717691 | USH2A | c.12295-27A>C (n.12295-27A>C) |