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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 |
|---|---|---|---|---|---|
| 10 | g.13109637_13111508del | CA2580081337 | OPTN | c.166+349_370-945del c.166+349_*275-945del c.166+349_167-945del (n.166+349_167-945del) c.-100+349_199-945del | ClinVar |
| 10 | g.13110287A>C | CA468235152 | OPTN | c.180A>C (p.Leu60=) c.*85A>C (n.*85A>C) c.166+999A>C (n.166+999A>C) c.9A>C (p.Leu3=) | |
| 10 | g.13110287A>G | CA468235153 | OPTN | c.180A>G (p.Leu60=) c.*85A>G (n.*85A>G) c.166+999A>G (n.166+999A>G) c.9A>G (p.Leu3=) | |
| 10 | g.13110287A>T | CA468235154 | OPTN | c.180A>T (p.Leu60=) c.*85A>T (n.*85A>T) c.166+999A>T (n.166+999A>T) c.9A>T (p.Leu3=) | |
| 10 | g.13110288A>C | CA376027327 | OPTN | c.181A>C (p.Asn61His) c.*86A>C (n.*86A>C) c.166+1000A>C (n.166+1000A>C) c.10A>C (p.Asn4His) | |
| 10 | g.13110288A>G | CA376027326 | OPTN | c.181A>G (p.Asn61Asp) c.*86A>G (n.*86A>G) c.166+1000A>G (n.166+1000A>G) c.10A>G (p.Asn4Asp) | |
| 10 | g.13110288A>T | CA376027325 | OPTN | c.181A>T (p.Asn61Tyr) c.*86A>T (n.*86A>T) c.166+1000A>T (n.166+1000A>T) c.10A>T (p.Asn4Tyr) | |
| 10 | g.13110289A>C | CA376027328 | OPTN | c.182A>C (p.Asn61Thr) c.*87A>C (n.*87A>C) c.166+1001A>C (n.166+1001A>C) c.11A>C (p.Asn4Thr) | |
| 10 | g.13110289A>G | CA376027329 | OPTN | c.182A>G (p.Asn61Ser) c.*87A>G (n.*87A>G) c.166+1001A>G (n.166+1001A>G) c.11A>G (p.Asn4Ser) | |
| 10 | g.13110289A>T | CA376027330 | OPTN | c.182A>T (p.Asn61Ile) c.*87A>T (n.*87A>T) c.166+1001A>T (n.166+1001A>T) c.11A>T (p.Asn4Ile) | gnomAD v4 |
| 10 | g.13110290T>A | CA376027331 | OPTN | c.183T>A (p.Asn61Lys) c.*88T>A (n.*88T>A) c.166+1002T>A (n.166+1002T>A) c.12T>A (p.Asn4Lys) | |
| 10 | g.13110290T>C | CA468235155 | OPTN | c.183T>C (p.Asn61=) c.*88T>C (n.*88T>C) c.166+1002T>C (n.166+1002T>C) c.12T>C (p.Asn4=) | |
| 10 | g.13110290T>G | CA376027332 | OPTN | c.183T>G (p.Asn61Lys) c.*88T>G (n.*88T>G) c.166+1002T>G (n.166+1002T>G) c.12T>G (p.Asn4Lys) | |
| 10 | g.13110291A>C | CA376027333 | OPTN | c.184A>C (p.Asn62His) c.*89A>C (n.*89A>C) c.166+1003A>C (n.166+1003A>C) c.13A>C (p.Asn5His) | |
| 10 | g.13110291A>G | CA376027334 | OPTN | c.184A>G (p.Asn62Asp) c.*89A>G (n.*89A>G) c.166+1003A>G (n.166+1003A>G) c.13A>G (p.Asn5Asp) | |
| 10 | g.13110291A>T | CA376027335 | OPTN | c.184A>T (p.Asn62Tyr) c.*89A>T (n.*89A>T) c.166+1003A>T (n.166+1003A>T) c.13A>T (p.Asn5Tyr) | |
| 10 | g.13110292A>C | CA376027336 | OPTN | c.185A>C (p.Asn62Thr) c.*90A>C (n.*90A>C) c.166+1004A>C (n.166+1004A>C) c.14A>C (p.Asn5Thr) | |
| 10 | g.13110292A>G | CA376027337 | OPTN | c.185A>G (p.Asn62Ser) c.*90A>G (n.*90A>G) c.166+1004A>G (n.166+1004A>G) c.14A>G (p.Asn5Ser) | |
| 10 | g.13110292A>T | CA376027338 | OPTN | c.185A>T (p.Asn62Ile) c.*90A>T (n.*90A>T) c.166+1004A>T (n.166+1004A>T) c.14A>T (p.Asn5Ile) | gnomAD v4 |
| 10 | g.13110293T>A | CA376027339 | OPTN | c.186T>A (p.Asn62Lys) c.*91T>A (n.*91T>A) c.166+1005T>A (n.166+1005T>A) c.15T>A (p.Asn5Lys) | |
| 10 | g.13110293T>C | CA468235156 | OPTN | c.186T>C (p.Asn62=) c.*91T>C (n.*91T>C) c.166+1005T>C (n.166+1005T>C) c.15T>C (p.Asn5=) | |
| 10 | g.13110293T>G | CA376027340 | OPTN | c.186T>G (p.Asn62Lys) c.*91T>G (n.*91T>G) c.166+1005T>G (n.166+1005T>G) c.15T>G (p.Asn5Lys) | |
| 10 | g.13110294C>A | CA376027342 | OPTN | c.187C>A (p.Gln63Lys) c.*92C>A (n.*92C>A) c.166+1006C>A (n.166+1006C>A) c.16C>A (p.Gln6Lys) | dbSNP gnomAD v4 |
| 10 | g.13110294C= | CA1891456136 | OPTN | c.187C= (p.Gln63=) c.*92C= (n.*92C=) c.166+1006C= (n.166+1006C=) c.16C= (p.Gln6=) | |
| 10 | g.13110294C>G | CA376027343 | OPTN | c.187C>G (p.Gln63Glu) c.*92C>G (n.*92C>G) c.166+1006C>G (n.166+1006C>G) c.16C>G (p.Gln6Glu) | |
| 10 | g.13110294C>T | CA376027341 | OPTN | c.187C>T (p.Gln63Ter) c.*92C>T (n.*92C>T) c.166+1006C>T (n.166+1006C>T) c.16C>T (p.Gln6Ter) | |
| 10 | g.13110295A= | CA1891456140 | OPTN | c.188A= (p.Gln63=) c.*93A= (n.*93A=) c.166+1007A= (n.166+1007A=) c.17A= (p.Gln6=) | |
| 10 | g.13110295A>C | CA203255154 | OPTN | c.188A>C (p.Gln63Pro) c.*93A>C (n.*93A>C) c.166+1007A>C (n.166+1007A>C) c.17A>C (p.Gln6Pro) | dbSNP |
| 10 | g.13110295A>G | CA376027344 | OPTN | c.188A>G (p.Gln63Arg) c.*93A>G (n.*93A>G) c.166+1007A>G (n.166+1007A>G) c.17A>G (p.Gln6Arg) | |
| 10 | g.13110295A>T | CA376027345 | OPTN | c.188A>T (p.Gln63Leu) c.*93A>T (n.*93A>T) c.166+1007A>T (n.166+1007A>T) c.17A>T (p.Gln6Leu) | |
| 10 | g.13110296A>C | CA376027346 | OPTN | c.189A>C (p.Gln63His) c.*94A>C (n.*94A>C) c.166+1008A>C (n.166+1008A>C) c.18A>C (p.Gln6His) | |
| 10 | g.13110296A>G | CA468235157 | OPTN | c.189A>G (p.Gln63=) c.*94A>G (n.*94A>G) c.166+1008A>G (n.166+1008A>G) c.18A>G (p.Gln6=) | |
| 10 | g.13110296A>T | CA376027347 | OPTN | c.189A>T (p.Gln63His) c.*94A>T (n.*94A>T) c.166+1008A>T (n.166+1008A>T) c.18A>T (p.Gln6His) | |
| 10 | g.13110297G>A | CA376027348 | OPTN | c.190G>A (p.Ala64Thr) c.*95G>A (n.*95G>A) c.166+1009G>A (n.166+1009G>A) c.19G>A (p.Ala7Thr) | |
| 10 | g.13110297G>C | CA376027349 | OPTN | c.190G>C (p.Ala64Pro) c.*95G>C (n.*95G>C) c.166+1009G>C (n.166+1009G>C) c.19G>C (p.Ala7Pro) | |
| 10 | g.13110297G>T | CA376027350 | OPTN | c.190G>T (p.Ala64Ser) c.*95G>T (n.*95G>T) c.166+1009G>T (n.166+1009G>T) c.19G>T (p.Ala7Ser) | |
| 10 | g.13110298C>A | CA376027351 | OPTN | c.191C>A (p.Ala64Asp) c.*96C>A (n.*96C>A) c.166+1010C>A (n.166+1010C>A) c.20C>A (p.Ala7Asp) | |
| 10 | g.13110298C>G | CA376027352 | OPTN | c.191C>G (p.Ala64Gly) c.*96C>G (n.*96C>G) c.166+1010C>G (n.166+1010C>G) c.20C>G (p.Ala7Gly) | |
| 10 | g.13110298C>T | CA376027353 | OPTN | c.191C>T (p.Ala64Val) c.*96C>T (n.*96C>T) c.166+1010C>T (n.166+1010C>T) c.20C>T (p.Ala7Val) | gnomAD v4 |
| 10 | g.13110299C>A | CA468235158 | OPTN | c.192C>A (p.Ala64=) c.*97C>A (n.*97C>A) c.166+1011C>A (n.166+1011C>A) c.21C>A (p.Ala7=) | |
| 10 | g.13110299C= | CA1891456146 | OPTN | c.192C= (p.Ala64=) c.*97C= (n.*97C=) c.166+1011C= (n.166+1011C=) c.21C= (p.Ala7=) | |
| 10 | g.13110299C>G | CA468235159 | OPTN | c.192C>G (p.Ala64=) c.*97C>G (n.*97C>G) c.166+1011C>G (n.166+1011C>G) c.21C>G (p.Ala7=) | gnomAD v4 |
| 10 | g.13110299C>T | CA468235160 | OPTN | c.192C>T (p.Ala64=) c.*97C>T (n.*97C>T) c.166+1011C>T (n.166+1011C>T) c.21C>T (p.Ala7=) | ClinVar dbSNP |
| 10 | g.13110300A>C | CA376027356 | OPTN | c.193A>C (p.Met65Leu) c.*98A>C (n.*98A>C) c.166+1012A>C (n.166+1012A>C) c.22A>C (p.Met8Leu) | |
| 10 | g.13110300A>G | CA376027355 | OPTN | c.193A>G (p.Met65Val) c.*98A>G (n.*98A>G) c.166+1012A>G (n.166+1012A>G) c.22A>G (p.Met8Val) | |
| 10 | g.13110300A>T | CA376027354 | OPTN | c.193A>T (p.Met65Leu) c.*98A>T (n.*98A>T) c.166+1012A>T (n.166+1012A>T) c.22A>T (p.Met8Leu) | |
| 10 | g.13110301T>A | CA376027357 | OPTN | c.194T>A (p.Met65Lys) c.*99T>A (n.*99T>A) c.166+1013T>A (n.166+1013T>A) c.23T>A (p.Met8Lys) | |
| 10 | g.13110301T>C | CA376027358 | OPTN | c.194T>C (p.Met65Thr) c.*99T>C (n.*99T>C) c.166+1013T>C (n.166+1013T>C) c.23T>C (p.Met8Thr) | ClinVar gnomAD v4 |
| 10 | g.13110301T>G | CA376027359 | OPTN | c.194T>G (p.Met65Arg) c.*99T>G (n.*99T>G) c.166+1013T>G (n.166+1013T>G) c.23T>G (p.Met8Arg) | |
| 10 | g.13110302G>A | CA376027360 | OPTN | c.195G>A (p.Met65Ile) c.*100G>A (n.*100G>A) c.166+1014G>A (n.166+1014G>A) c.24G>A (p.Met8Ile) |