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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.215671137C>A | CA344840984 | USH2A | c.13968G>T (p.Leu4656Phe) | COSMIC |
| 1 | g.215671137C>G | CA344840987 | USH2A | c.13968G>C (p.Leu4656Phe) | |
| 1 | g.215671137C>T | CA423426394 | USH2A | c.13968G>A (p.Leu4656=) | |
| 1 | g.215671138A>C | CA344840990 | USH2A | c.13967T>G (p.Leu4656Trp) | |
| 1 | g.215671138A>G | CA344840992 | USH2A | c.13967T>C (p.Leu4656Ser) | |
| 1 | g.215671138A>T | CA344840996 | USH2A | c.13967T>A (p.Leu4656Ter) | |
| 1 | g.215671139A>C | CA344841005 | USH2A | c.13966T>G (p.Leu4656Val) | |
| 1 | g.215671139A>G | CA423426396 | USH2A | c.13966T>C (p.Leu4656=) | gnomAD v4 |
| 1 | g.215671139A>T | CA344841006 | USH2A | c.13966T>A (p.Leu4656Met) | |
| 1 | g.215671140A>C | CA423426397 | USH2A | c.13965T>G (p.Leu4655=) | |
| 1 | g.215671140A>G | CA423426398 | USH2A | c.13965T>C (p.Leu4655=) | |
| 1 | g.215671140A>T | CA423426399 | USH2A | c.13965T>A (p.Leu4655=) | |
| 1 | g.215671141A>C | CA344841007 | USH2A | c.13964T>G (p.Leu4655Arg) | |
| 1 | g.215671141A>G | CA344841008 | USH2A | c.13964T>C (p.Leu4655Pro) | ClinVar |
| 1 | g.215671141A>T | CA344841009 | USH2A | c.13964T>A (p.Leu4655His) | |
| 1 | g.215671142G>A | CA344841010 | USH2A | c.13963C>T (p.Leu4655Phe) | |
| 1 | g.215671142G>C | CA344841011 | USH2A | c.13963C>G (p.Leu4655Val) | dbSNP |
| 1 | g.215671142G= | CA1220372167 | USH2A | c.13963C= (p.Leu4655=) | |
| 1 | g.215671142G>T | CA344841012 | USH2A | c.13963C>A (p.Leu4655Ile) | |
| 1 | g.215671143A>C | CA423426402 | USH2A | c.13962T>G (p.Ser4654=) | |
| 1 | g.215671143A>G | CA423426403 | USH2A | c.13962T>C (p.Ser4654=) | dbSNP |
| 1 | g.215671143A>T | CA423426401 | USH2A | c.13962T>A (p.Ser4654=) | |
| 1 | g.215671144G>A | CA344841014 | USH2A | c.13961C>T (p.Ser4654Phe) | |
| 1 | g.215671144G>C | CA344841015 | USH2A | c.13961C>G (p.Ser4654Cys) | |
| 1 | g.215671144G>T | CA344841018 | USH2A | c.13961C>A (p.Ser4654Tyr) | COSMIC COSMIC |
| 1 | g.215671145A= | CA1220372168 | USH2A | c.13960T= (p.Ser4654=) | |
| 1 | g.215671145A>C | CA344841020 | USH2A | c.13960T>G (p.Ser4654Ala) | |
| 1 | g.215671145A>G | CA344841021 | USH2A | c.13960T>C (p.Ser4654Pro) | |
| 1 | g.215671145A>T | CA344841022 | USH2A | c.13960T>A (p.Ser4654Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671146A>C | CA423426404 | USH2A | c.13959T>G (p.Val4653=) | |
| 1 | g.215671146A>G | CA423426405 | USH2A | c.13959T>C (p.Val4653=) | |
| 1 | g.215671146A>T | CA423426406 | USH2A | c.13959T>A (p.Val4653=) | |
| 1 | g.215671147A>C | CA344841031 | USH2A | c.13958T>G (p.Val4653Gly) | |
| 1 | g.215671147A>G | CA344841027 | USH2A | c.13958T>C (p.Val4653Ala) | |
| 1 | g.215671147A>T | CA344841029 | USH2A | c.13958T>A (p.Val4653Asp) | |
| 1 | g.215671148C>A | CA344841033 | USH2A | c.13957G>T (p.Val4653Phe) | |
| 1 | g.215671148C= | CA1220372169 | USH2A | c.13957G= (p.Val4653=) | |
| 1 | g.215671148C>G | CA344841036 | USH2A | c.13957G>C (p.Val4653Leu) | ClinVar gnomAD v4 COSMIC COSMIC |
| 1 | g.215671148C>T | CA344841041 | USH2A | c.13957G>A (p.Val4653Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671149A= | CA1220372170 | USH2A | c.13956T= (p.Thr4652=) | |
| 1 | g.215671149A>C | CA423426408 | USH2A | c.13956T>G (p.Thr4652=) | ClinVar gnomAD v4 |
| 1 | g.215671149A>G | CA423426410 | USH2A | c.13956T>C (p.Thr4652=) | |
| 1 | g.215671149A>T | CA423426411 | USH2A | c.13956T>A (p.Thr4652=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215671150G>A | CA344841044 | USH2A | c.13955C>T (p.Thr4652Ile) | |
| 1 | g.215671150G>C | CA344841045 | USH2A | c.13955C>G (p.Thr4652Ser) | |
| 1 | g.215671150G= | CA1142251615 | USH2A | c.13955C= (p.Thr4652=) | |
| 1 | g.215671150G>T | CA1393173 | USH2A | c.13955C>A (p.Thr4652Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215671151T>A | CA344841046 | USH2A | c.13954A>T (p.Thr4652Ser) | |
| 1 | g.215671151T>C | CA344841047 | USH2A | c.13954A>G (p.Thr4652Ala) | COSMIC COSMIC |
| 1 | g.215671151T>G | CA344841048 | USH2A | c.13954A>C (p.Thr4652Pro) | |
| 1 | g.215671152del | CA2586968120 | USH2A | c.13954del (p.Thr4652LeufsTer26) | |
| 1 | g.215671152T>A | CA423426412 | USH2A | c.13953A>T (p.Pro4651=) | |
| 1 | g.215671152T>C | CA423426413 | USH2A | c.13953A>G (p.Pro4651=) | |
| 1 | g.215671152T>G | CA423426415 | USH2A | c.13953A>C (p.Pro4651=) | |
| 1 | g.215671153G>A | CA344841049 | USH2A | c.13952C>T (p.Pro4651Leu) | |
| 1 | g.215671153G>C | CA344841050 | USH2A | c.13952C>G (p.Pro4651Arg) | |
| 1 | g.215671153G>T | CA344841052 | USH2A | c.13952C>A (p.Pro4651Gln) | |
| 1 | g.215671154G>A | CA344841059 | USH2A | c.13951C>T (p.Pro4651Ser) | COSMIC COSMIC |
| 1 | g.215671154G>C | CA1393174 | USH2A | c.13951C>G (p.Pro4651Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215671154G= | CA1145875076 | USH2A | c.13951C= (p.Pro4651=) | |
| 1 | g.215671154G>T | CA344841056 | USH2A | c.13951C>A (p.Pro4651Thr) | gnomAD v4 |
| 1 | g.215671155C>A | CA344841066 | USH2A | c.13950G>T (p.Gln4650His) | COSMIC COSMIC |
| 1 | g.215671155C>G | CA344841064 | USH2A | c.13950G>C (p.Gln4650His) | |
| 1 | g.215671155C>T | CA423426417 | USH2A | c.13950G>A (p.Gln4650=) | |
| 1 | g.215671156T>A | CA344841069 | USH2A | c.13949A>T (p.Gln4650Leu) | |
| 1 | g.215671156T>C | CA344841071 | USH2A | c.13949A>G (p.Gln4650Arg) | |
| 1 | g.215671156T>G | CA344841075 | USH2A | c.13949A>C (p.Gln4650Pro) | |
| 1 | g.215671157G>A | CA344841086 | USH2A | c.13948C>T (p.Gln4650Ter) | ClinVar dbSNP |
| 1 | g.215671157G>C | CA344841090 | USH2A | c.13948C>G (p.Gln4650Glu) | |
| 1 | g.215671157G= | CA1220372171 | USH2A | c.13948C= (p.Gln4650=) | |
| 1 | g.215671157G>T | CA344841092 | USH2A | c.13948C>A (p.Gln4650Lys) | |
| 1 | g.215671158G>A | CA37410145 | USH2A | c.13947C>T (p.Phe4649=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671158G>C | CA344841096 | USH2A | c.13947C>G (p.Phe4649Leu) | |
| 1 | g.215671158G= | CA1220372172 | USH2A | c.13947C= (p.Phe4649=) | |
| 1 | g.215671158G>T | CA344841099 | USH2A | c.13947C>A (p.Phe4649Leu) | |
| 1 | g.215671159A>C | CA344841102 | USH2A | c.13946T>G (p.Phe4649Cys) | |
| 1 | g.215671159A>G | CA344841104 | USH2A | c.13946T>C (p.Phe4649Ser) | |
| 1 | g.215671159A>T | CA344841108 | USH2A | c.13946T>A (p.Phe4649Tyr) | |
| 1 | g.215671160A>C | CA344841118 | USH2A | c.13945T>G (p.Phe4649Val) | |
| 1 | g.215671160A>G | CA344841111 | USH2A | c.13945T>C (p.Phe4649Leu) | |
| 1 | g.215671160A>T | CA344841114 | USH2A | c.13945T>A (p.Phe4649Ile) | |
| 1 | g.215671161T>A | CA423426421 | USH2A | c.13944A>T (p.Gly4648=) | |
| 1 | g.215671161T>C | CA423426422 | USH2A | c.13944A>G (p.Gly4648=) | |
| 1 | g.215671161T>G | CA423426423 | USH2A | c.13944A>C (p.Gly4648=) | |
| 1 | g.215671161_215671163delinsTCC | CA1220372173 | USH2A | c.13942_13944delinsGGA (p.Gly4648=) | |
| 1 | g.215671162C>A | CA344841121 | USH2A | c.13943G>T (p.Gly4648Val) | COSMIC COSMIC |
| 1 | g.215671162C>G | CA344841125 | USH2A | c.13943G>C (p.Gly4648Ala) | |
| 1 | g.215671162C>T | CA344841132 | USH2A | c.13943G>A (p.Gly4648Glu) | COSMIC COSMIC |
| 1 | g.215671162_215671163delinsA | CA916082112 | USH2A | c.13942_13943delinsT (p.Gly4648TyrfsTer30) | ClinVar dbSNP |
| 1 | g.215671163del | CA529002011 | USH2A | c.13943del (p.Gly4648AspfsTer30) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671163C>A | CA344841138 | USH2A | c.13942G>T (p.Gly4648Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215671163C= | CA1220372174 | USH2A | c.13942G= (p.Gly4648=) | |
| 1 | g.215671163C>G | CA344841140 | USH2A | c.13942G>C (p.Gly4648Arg) | COSMIC COSMIC |
| 1 | g.215671163C>T | CA344841143 | USH2A | c.13942G>A (p.Gly4648Arg) | gnomAD v4 |
| 1 | g.215671164T>A | CA423426427 | USH2A | c.13941A>T (p.Gly4647=) | |
| 1 | g.215671164T>C | CA423426428 | USH2A | c.13941A>G (p.Gly4647=) | |
| 1 | g.215671164T>G | CA423426429 | USH2A | c.13941A>C (p.Gly4647=) | |
| 1 | g.215671165C>A | CA344841146 | USH2A | c.13940G>T (p.Gly4647Val) | |
| 1 | g.215671165C= | CA1220372175 | USH2A | c.13940G= (p.Gly4647=) | |
| 1 | g.215671165C>G | CA344841148 | USH2A | c.13940G>C (p.Gly4647Ala) | |
| 1 | g.215671165C>T | CA344841152 | USH2A | c.13940G>A (p.Gly4647Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215671166C>A | CA344841159 | USH2A | c.13939G>T (p.Gly4647Ter) | |
| 1 | g.215671166C= | CA1141997102 | USH2A | c.13939G= (p.Gly4647=) | |
| 1 | g.215671166C>G | CA1393175 | USH2A | c.13939G>C (p.Gly4647Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671166C>T | CA344841164 | USH2A | c.13939G>A (p.Gly4647Arg) | gnomAD v4 |
| 1 | g.215671167T>A | CA423426431 | USH2A | c.13938A>T (p.Pro4646=) | |
| 1 | g.215671167T>C | CA423426432 | USH2A | c.13938A>G (p.Pro4646=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215671167T>G | CA423426433 | USH2A | c.13938A>C (p.Pro4646=) | |
| 1 | g.215671167T= | CA1220372176 | USH2A | c.13938A= (p.Pro4646=) | |
| 1 | g.215671168G>A | CA344841181 | USH2A | c.13937C>T (p.Pro4646Leu) | |
| 1 | g.215671168G>C | CA344841183 | USH2A | c.13937C>G (p.Pro4646Arg) | |
| 1 | g.215671168G>T | CA344841180 | USH2A | c.13937C>A (p.Pro4646Gln) | |
| 1 | g.215671169G>A | CA344841186 | USH2A | c.13936C>T (p.Pro4646Ser) | gnomAD v4 |
| 1 | g.215671169G>C | CA344841190 | USH2A | c.13936C>G (p.Pro4646Ala) | |
| 1 | g.215671169G= | CA1220372177 | USH2A | c.13936C= (p.Pro4646=) | |
| 1 | g.215671169G>T | CA1393176 | USH2A | c.13936C>A (p.Pro4646Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671170A= | CA1220372178 | USH2A | c.13935T= (p.Ala4645=) | |
| 1 | g.215671170A>C | CA423426438 | USH2A | c.13935T>G (p.Ala4645=) | |
| 1 | g.215671170A>G | CA423426437 | USH2A | c.13935T>C (p.Ala4645=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215671170A>T | CA423426435 | USH2A | c.13935T>A (p.Ala4645=) | |
| 1 | g.215671171G>A | CA344841200 | USH2A | c.13934C>T (p.Ala4645Val) | |
| 1 | g.215671171G>C | CA344841204 | USH2A | c.13934C>G (p.Ala4645Gly) | dbSNP |
| 1 | g.215671171G= | CA1220372179 | USH2A | c.13934C= (p.Ala4645=) | |
| 1 | g.215671171G>T | CA344841208 | USH2A | c.13934C>A (p.Ala4645Asp) | |
| 1 | g.215671172C>A | CA344841218 | USH2A | c.13933G>T (p.Ala4645Ser) | |
| 1 | g.215671172C>G | CA344841212 | USH2A | c.13933G>C (p.Ala4645Pro) | |
| 1 | g.215671172C>T | CA344841216 | USH2A | c.13933G>A (p.Ala4645Thr) | |
| 1 | g.215671173C>A | CA344841231 | USH2A | c.13932G>T (p.Met4644Ile) | gnomAD v4 |
| 1 | g.215671173C>G | CA344841233 | USH2A | c.13932G>C (p.Met4644Ile) | |
| 1 | g.215671173C>T | CA344841235 | USH2A | c.13932G>A (p.Met4644Ile) | gnomAD v4 |
| 1 | g.215671174A>C | CA344841243 | USH2A | c.13931T>G (p.Met4644Arg) | |
| 1 | g.215671174A>G | CA344841244 | USH2A | c.13931T>C (p.Met4644Thr) | gnomAD v4 |
| 1 | g.215671174A>T | CA344841245 | USH2A | c.13931T>A (p.Met4644Lys) | COSMIC COSMIC |
| 1 | g.215671175T>A | CA344841246 | USH2A | c.13930A>T (p.Met4644Leu) | |
| 1 | g.215671175T>C | CA344841250 | USH2A | c.13930A>G (p.Met4644Val) | |
| 1 | g.215671175T>G | CA344841248 | USH2A | c.13930A>C (p.Met4644Leu) | |
| 1 | g.215671176T>A | CA344841253 | USH2A | c.13929A>T (p.Gln4643His) | |
| 1 | g.215671176T>C | CA423426448 | USH2A | c.13929A>G (p.Gln4643=) | |
| 1 | g.215671176T>G | CA344841255 | USH2A | c.13929A>C (p.Gln4643His) | |
| 1 | g.215671177T>A | CA344841260 | USH2A | c.13928A>T (p.Gln4643Leu) | |
| 1 | g.215671177T>C | CA344841262 | USH2A | c.13928A>G (p.Gln4643Arg) | |
| 1 | g.215671177T>G | CA344841266 | USH2A | c.13928A>C (p.Gln4643Pro) | |
| 1 | g.215671178G>A | CA344841270 | USH2A | c.13927C>T (p.Gln4643Ter) | |
| 1 | g.215671178G>C | CA344841273 | USH2A | c.13927C>G (p.Gln4643Glu) | |
| 1 | g.215671178G>T | CA344841276 | USH2A | c.13927C>A (p.Gln4643Lys) | |
| 1 | g.215671179T>A | CA1393177 | USH2A | c.13926A>T (p.Val4642=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671179T>C | CA423426454 | USH2A | c.13926A>G (p.Val4642=) | |
| 1 | g.215671179T>G | CA423426455 | USH2A | c.13926A>C (p.Val4642=) | |
| 1 | g.215671179T= | CA1220372180 | USH2A | c.13926A= (p.Val4642=) | |
| 1 | g.215671179dup | CA2586968121 | USH2A | c.13926dup (p.Gln4643ThrfsTer?) | |
| 1 | g.215671179_215671180dup | CA2580062060 | USH2A | c.13925_13926dup (p.Gln4643TyrfsTer?) | ClinVar |
| 1 | g.215671180A>C | CA344841282 | USH2A | c.13925T>G (p.Val4642Gly) | |
| 1 | g.215671180A>G | CA344841288 | USH2A | c.13925T>C (p.Val4642Ala) | gnomAD v4 |
| 1 | g.215671180A>T | CA344841290 | USH2A | c.13925T>A (p.Val4642Glu) | |
| 1 | g.215671181C>A | CA344841293 | USH2A | c.13924G>T (p.Val4642Leu) | |
| 1 | g.215671181C= | CA1220372181 | USH2A | c.13924G= (p.Val4642=) | |
| 1 | g.215671181C>G | CA344841300 | USH2A | c.13924G>C (p.Val4642Leu) | |
| 1 | g.215671181C>T | CA344841296 | USH2A | c.13924G>A (p.Val4642Ile) | dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.215671182C>A | CA344841302 | USH2A | c.13923G>T (p.Glu4641Asp) | |
| 1 | g.215671182C>G | CA344841304 | USH2A | c.13923G>C (p.Glu4641Asp) | |
| 1 | g.215671182C>T | CA423426457 | USH2A | c.13923G>A (p.Glu4641=) | |
| 1 | g.215671183T>A | CA344841307 | USH2A | c.13922A>T (p.Glu4641Val) | |
| 1 | g.215671183T>C | CA344841312 | USH2A | c.13922A>G (p.Glu4641Gly) | |
| 1 | g.215671183T>G | CA344841309 | USH2A | c.13922A>C (p.Glu4641Ala) | |
| 1 | g.215671184C>A | CA344841314 | USH2A | c.13921G>T (p.Glu4641Ter) | |
| 1 | g.215671184C>G | CA344841318 | USH2A | c.13921G>C (p.Glu4641Gln) | |
| 1 | g.215671184C>T | CA344841315 | USH2A | c.13921G>A (p.Glu4641Lys) | gnomAD v4 |
| 1 | g.215671185C>A | CA423426459 | USH2A | c.13920G>T (p.Leu4640=) | |
| 1 | g.215671185C>G | CA423426460 | USH2A | c.13920G>C (p.Leu4640=) | |
| 1 | g.215671185C>T | CA423426458 | USH2A | c.13920G>A (p.Leu4640=) | gnomAD v4 COSMIC COSMIC |
| 1 | g.215671186A>C | CA344841323 | USH2A | c.13919T>G (p.Leu4640Arg) | |
| 1 | g.215671186A>G | CA344841333 | USH2A | c.13919T>C (p.Leu4640Pro) | gnomAD v4 |
| 1 | g.215671186A>T | CA344841336 | USH2A | c.13919T>A (p.Leu4640Gln) | |
| 1 | g.215671187G>A | CA423426464 | USH2A | c.13918C>T (p.Leu4640=) | |
| 1 | g.215671187G>C | CA344841343 | USH2A | c.13918C>G (p.Leu4640Val) | |
| 1 | g.215671187G>T | CA344841351 | USH2A | c.13918C>A (p.Leu4640Met) | |
| 1 | g.215671188A= | CA1220372182 | USH2A | c.13917T= (p.His4639=) | |
| 1 | g.215671188A>C | CA344841355 | USH2A | c.13917T>G (p.His4639Gln) | |
| 1 | g.215671188A>G | CA423426466 | USH2A | c.13917T>C (p.His4639=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215671188A>T | CA344841357 | USH2A | c.13917T>A (p.His4639Gln) | |
| 1 | g.215671189T>A | CA37410157 | USH2A | c.13916A>T (p.His4639Leu) | dbSNP gnomAD v4 |
| 1 | g.215671189T>C | CA344841361 | USH2A | c.13916A>G (p.His4639Arg) | gnomAD v4 |
| 1 | g.215671189T>G | CA344841362 | USH2A | c.13916A>C (p.His4639Pro) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215671189T= | CA1220372183 | USH2A | c.13916A= (p.His4639=) | |
| 1 | g.215671190G>A | CA344841363 | USH2A | c.13915C>T (p.His4639Tyr) | dbSNP gnomAD v2 |
| 1 | g.215671190G>C | CA344841364 | USH2A | c.13915C>G (p.His4639Asp) | |
| 1 | g.215671190G= | CA1143386857 | USH2A | c.13915C= (p.His4639=) | |
| 1 | g.215671190G>T | CA1393178 | USH2A | c.13915C>A (p.His4639Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671191T>A | CA423426469 | USH2A | c.13914A>T (p.Pro4638=) | |
| 1 | g.215671191T>C | CA423426470 | USH2A | c.13914A>G (p.Pro4638=) | gnomAD v4 |
| 1 | g.215671191T>G | CA423426471 | USH2A | c.13914A>C (p.Pro4638=) | |
| 1 | g.215671192G>A | CA344841367 | USH2A | c.13913C>T (p.Pro4638Leu) | |
| 1 | g.215671192G>C | CA344841365 | USH2A | c.13913C>G (p.Pro4638Arg) | |
| 1 | g.215671192G>T | CA344841366 | USH2A | c.13913C>A (p.Pro4638Gln) | gnomAD v4 |
| 1 | g.215671193G>A | CA344841368 | USH2A | c.13912C>T (p.Pro4638Ser) | gnomAD v4 |
| 1 | g.215671193G>C | CA344841369 | USH2A | c.13912C>G (p.Pro4638Ala) | |
| 1 | g.215671193G>T | CA344841370 | USH2A | c.13912C>A (p.Pro4638Thr) | COSMIC COSMIC |
| 1 | g.215671194A>C | CA423426477 | USH2A | c.13911T>G (p.Pro4637=) | ClinVar gnomAD v4 |
| 1 | g.215671194A>G | CA423426478 | USH2A | c.13911T>C (p.Pro4637=) | ClinVar dbSNP |
| 1 | g.215671194A>T | CA423426479 | USH2A | c.13911T>A (p.Pro4637=) | |
| 1 | g.215671195G>A | CA344841372 | USH2A | c.13910C>T (p.Pro4637Leu) | |
| 1 | g.215671195G>C | CA344841374 | USH2A | c.13910C>G (p.Pro4637Arg) | |
| 1 | g.215671195G>T | CA344841377 | USH2A | c.13910C>A (p.Pro4637His) | |
| 1 | g.215671199del | CA423426480 | USH2A | c.13910del (p.Pro4637LeufsTer?) | COSMIC |
| 1 | g.215671196G>A | CA1393179 | USH2A | c.13909C>T (p.Pro4637Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671196G>C | CA344841383 | USH2A | c.13909C>G (p.Pro4637Ala) | |
| 1 | g.215671196G= | CA1220372184 | USH2A | c.13909C= (p.Pro4637=) | |
| 1 | g.215671196G>T | CA344841384 | USH2A | c.13909C>A (p.Pro4637Thr) | COSMIC COSMIC |
| 1 | g.215671197G>A | CA423426482 | USH2A | c.13908C>T (p.Pro4636=) | |
| 1 | g.215671197G>C | CA423426483 | USH2A | c.13908C>G (p.Pro4636=) | ClinVar dbSNP |
| 1 | g.215671197G>T | CA423426485 | USH2A | c.13908C>A (p.Pro4636=) | |
| 1 | g.215671198G>A | CA1393180 | USH2A | c.13907C>T (p.Pro4636Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671198G>C | CA344841387 | USH2A | c.13907C>G (p.Pro4636Arg) | gnomAD v4 |
| 1 | g.215671198G= | CA1142374476 | USH2A | c.13907C= (p.Pro4636=) | |
| 1 | g.215671198G>T | CA344841390 | USH2A | c.13907C>A (p.Pro4636His) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.215671199G>A | CA1393181 | USH2A | c.13906C>T (p.Pro4636Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671199G>C | CA344841397 | USH2A | c.13906C>G (p.Pro4636Ala) | |
| 1 | g.215671199G= | CA1220372185 | USH2A | c.13906C= (p.Pro4636=) | |
| 1 | g.215671199G>T | CA344841395 | USH2A | c.13906C>A (p.Pro4636Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671200T>A | CA344841399 | USH2A | c.13905A>T (p.Gln4635His) | |
| 1 | g.215671200T>C | CA423426487 | USH2A | c.13905A>G (p.Gln4635=) | COSMIC COSMIC |
| 1 | g.215671200T>G | CA344841401 | USH2A | c.13905A>C (p.Gln4635His) | dbSNP |
| 1 | g.215671200T= | CA1220372186 | USH2A | c.13905A= (p.Gln4635=) | |
| 1 | g.215671201T>A | CA344841404 | USH2A | c.13904A>T (p.Gln4635Leu) | |
| 1 | g.215671201T>C | CA344841406 | USH2A | c.13904A>G (p.Gln4635Arg) | |
| 1 | g.215671201T>G | CA344841410 | USH2A | c.13904A>C (p.Gln4635Pro) | |
| 1 | g.215671202G>A | CA344841416 | USH2A | c.13903C>T (p.Gln4635Ter) | |
| 1 | g.215671202G>C | CA344841418 | USH2A | c.13903C>G (p.Gln4635Glu) | |
| 1 | g.215671202G>T | CA344841420 | USH2A | c.13903C>A (p.Gln4635Lys) | |
| 1 | g.215671203C>A | CA344841424 | USH2A | c.13902G>T (p.Met4634Ile) | |
| 1 | g.215671203C>G | CA344841428 | USH2A | c.13902G>C (p.Met4634Ile) | |
| 1 | g.215671203C>T | CA344841430 | USH2A | c.13902G>A (p.Met4634Ile) | |
| 1 | g.215671205_215671221del | CA2499214435 | USH2A | c.13886_13902del (p.Glu4629AlafsTer?) | ClinVar dbSNP |
| 1 | g.215671204A>C | CA344841440 | USH2A | c.13901T>G (p.Met4634Arg) | gnomAD v4 |
| 1 | g.215671204A>G | CA344841433 | USH2A | c.13901T>C (p.Met4634Thr) | |
| 1 | g.215671204A>T | CA344841437 | USH2A | c.13901T>A (p.Met4634Lys) | |
| 1 | g.215671205T>A | CA344841443 | USH2A | c.13900A>T (p.Met4634Leu) | |
| 1 | g.215671205T>C | CA344841447 | USH2A | c.13900A>G (p.Met4634Val) | |
| 1 | g.215671205T>G | CA344841449 | USH2A | c.13900A>C (p.Met4634Leu) | |
| 1 | g.215671206C>A | CA344841452 | USH2A | c.13899G>T (p.Leu4633Phe) | COSMIC COSMIC |
| 1 | g.215671206C>G | CA344841456 | USH2A | c.13899G>C (p.Leu4633Phe) | |
| 1 | g.215671206C>T | CA423426496 | USH2A | c.13899G>A (p.Leu4633=) | |
| 1 | g.215671206_215671207del | CA913072748 | USH2A | c.13898_13899del (p.Leu4633TyrfsTer?) | |
| 1 | g.215671206_215671207delinsCA | CA1220372187 | USH2A | c.13898_13899delinsTG (p.Leu4633=) | |
| 1 | g.215671207A>C | CA344841461 | USH2A | c.13898T>G (p.Leu4633Trp) | |
| 1 | g.215671207A>G | CA344841463 | USH2A | c.13898T>C (p.Leu4633Ser) | |
| 1 | g.215671207A>T | CA344841466 | USH2A | c.13898T>A (p.Leu4633Ter) | |
| 1 | g.215671209del | CA658822638 | USH2A | c.13898del (p.Leu4633Ter) | ClinVar dbSNP |
| 1 | g.215671208A= | CA1220372188 | USH2A | c.13897T= (p.Leu4633=) | |
| 1 | g.215671208A>C | CA344841469 | USH2A | c.13897T>G (p.Leu4633Val) | |
| 1 | g.215671208A>G | CA1393182 | USH2A | c.13897T>C (p.Leu4633=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671208A>T | CA344841474 | USH2A | c.13897T>A (p.Leu4633Met) | |
| 1 | g.215671209A>C | CA423426498 | USH2A | c.13896T>G (p.Pro4632=) | |
| 1 | g.215671209A>G | CA423426499 | USH2A | c.13896T>C (p.Pro4632=) | |
| 1 | g.215671209A>T | CA423426501 | USH2A | c.13896T>A (p.Pro4632=) | |
| 1 | g.215671210G>A | CA344841479 | USH2A | c.13895C>T (p.Pro4632Leu) | |
| 1 | g.215671210G>C | CA344841483 | USH2A | c.13895C>G (p.Pro4632Arg) | |
| 1 | g.215671210G>T | CA344841476 | USH2A | c.13895C>A (p.Pro4632His) | gnomAD v4 |
| 1 | g.215671211G>A | CA344841491 | USH2A | c.13894C>T (p.Pro4632Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671211G>C | CA344841488 | USH2A | c.13894C>G (p.Pro4632Ala) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215671211G= | CA1220372189 | USH2A | c.13894C= (p.Pro4632=) | |
| 1 | g.215671211G>T | CA344841490 | USH2A | c.13894C>A (p.Pro4632Thr) | gnomAD v4 |
| 1 | g.215671212T>A | CA423426503 | USH2A | c.13893A>T (p.Ala4631=) | |
| 1 | g.215671212T>C | CA423426504 | USH2A | c.13893A>G (p.Ala4631=) | COSMIC COSMIC |
| 1 | g.215671212T>G | CA423426505 | USH2A | c.13893A>C (p.Ala4631=) | |
| 1 | g.215671213G>A | CA344841493 | USH2A | c.13892C>T (p.Ala4631Val) | |
| 1 | g.215671213G>C | CA344841496 | USH2A | c.13892C>G (p.Ala4631Gly) | |
| 1 | g.215671213G>T | CA344841499 | USH2A | c.13892C>A (p.Ala4631Glu) | |
| 1 | g.215671214C>A | CA344841501 | USH2A | c.13891G>T (p.Ala4631Ser) | |
| 1 | g.215671214C= | CA1149060914 | USH2A | c.13891G= (p.Ala4631=) | |
| 1 | g.215671214C>G | CA344841502 | USH2A | c.13891G>C (p.Ala4631Pro) | |
| 1 | g.215671214C>T | CA1393183 | USH2A | c.13891G>A (p.Ala4631Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671215A= | CA1220372190 | USH2A | c.13890T= (p.Ile4630=) | |
| 1 | g.215671215A>C | CA344841506 | USH2A | c.13890T>G (p.Ile4630Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671215A>G | CA423426507 | USH2A | c.13890T>C (p.Ile4630=) | |
| 1 | g.215671215A>T | CA423426508 | USH2A | c.13890T>A (p.Ile4630=) | |
| 1 | g.215671216A= | CA1220372191 | USH2A | c.13889T= (p.Ile4630=) | |
| 1 | g.215671216A>C | CA344841509 | USH2A | c.13889T>G (p.Ile4630Ser) | |
| 1 | g.215671216A>G | CA344841522 | USH2A | c.13889T>C (p.Ile4630Thr) | dbSNP |
| 1 | g.215671216A>T | CA344841524 | USH2A | c.13889T>A (p.Ile4630Asn) | |
| 1 | g.215671217T>A | CA344841540 | USH2A | c.13888A>T (p.Ile4630Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215671217T>C | CA344841529 | USH2A | c.13888A>G (p.Ile4630Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671217T>G | CA344841538 | USH2A | c.13888A>C (p.Ile4630Leu) | |
| 1 | g.215671217T= | CA1220372192 | USH2A | c.13888A= (p.Ile4630=) | |
| 1 | g.215671218C>A | CA344841544 | USH2A | c.13887G>T (p.Glu4629Asp) | ClinVar dbSNP COSMIC COSMIC |
| 1 | g.215671218C= | CA1220372193 | USH2A | c.13887G= (p.Glu4629=) | |
| 1 | g.215671218C>G | CA344841547 | USH2A | c.13887G>C (p.Glu4629Asp) | |
| 1 | g.215671218C>T | CA423426514 | USH2A | c.13887G>A (p.Glu4629=) | |
| 1 | g.215671219T>A | CA344841552 | USH2A | c.13886A>T (p.Glu4629Val) | gnomAD v4 COSMIC COSMIC |
| 1 | g.215671219T>C | CA344841554 | USH2A | c.13886A>G (p.Glu4629Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671219T>G | CA344841563 | USH2A | c.13886A>C (p.Glu4629Ala) | gnomAD v4 COSMIC COSMIC |
| 1 | g.215671219T= | CA1220372194 | USH2A | c.13886A= (p.Glu4629=) | |
| 1 | g.215671220C>A | CA344841566 | USH2A | c.13885G>T (p.Glu4629Ter) | |
| 1 | g.215671220C= | CA1220372195 | USH2A | c.13885G= (p.Glu4629=) | |
| 1 | g.215671220C>G | CA344841568 | USH2A | c.13885G>C (p.Glu4629Gln) | |
| 1 | g.215671220C>T | CA37410195 | USH2A | c.13885G>A (p.Glu4629Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671221A>C | CA423426519 | USH2A | c.13884T>G (p.Pro4628=) | |
| 1 | g.215671221A>G | CA423426520 | USH2A | c.13884T>C (p.Pro4628=) | |
| 1 | g.215671221A>T | CA423426521 | USH2A | c.13884T>A (p.Pro4628=) | COSMIC COSMIC |
| 1 | g.215671222G>A | CA344841570 | USH2A | c.13883C>T (p.Pro4628Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671222G>C | CA344841572 | USH2A | c.13883C>G (p.Pro4628Arg) | |
| 1 | g.215671222G= | CA1220372196 | USH2A | c.13883C= (p.Pro4628=) | |
| 1 | g.215671222G>T | CA344841574 | USH2A | c.13883C>A (p.Pro4628His) | |
| 1 | g.215671223G>A | CA344841581 | USH2A | c.13882C>T (p.Pro4628Ser) | |
| 1 | g.215671223G>C | CA344841589 | USH2A | c.13882C>G (p.Pro4628Ala) | ClinVar dbSNP |
| 1 | g.215671223G= | CA1220372197 | USH2A | c.13882C= (p.Pro4628=) | |
| 1 | g.215671223G>T | CA344841577 | USH2A | c.13882C>A (p.Pro4628Thr) | |
| 1 | g.215671224G>A | CA423426528 | USH2A | c.13881C>T (p.Thr4627=) | |
| 1 | g.215671224G>C | CA423426529 | USH2A | c.13881C>G (p.Thr4627=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671224G= | CA1220372198 | USH2A | c.13881C= (p.Thr4627=) | |
| 1 | g.215671224G>T | CA423426530 | USH2A | c.13881C>A (p.Thr4627=) | |
| 1 | g.215671225G>A | CA344841592 | USH2A | c.13880C>T (p.Thr4627Ile) | ClinVar gnomAD v4 |
| 1 | g.215671225G>C | CA344841595 | USH2A | c.13880C>G (p.Thr4627Ser) | |
| 1 | g.215671225G= | CA1220372199 | USH2A | c.13880C= (p.Thr4627=) | |
| 1 | g.215671225G>T | CA344841598 | USH2A | c.13880C>A (p.Thr4627Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671227_215671230del | CA2580062065 | USH2A | c.13877_13880del (p.Gln4626ProfsTer7) | ClinVar |
| 1 | g.215671226T>A | CA344841600 | USH2A | c.13879A>T (p.Thr4627Ser) | |
| 1 | g.215671226T>C | CA344841610 | USH2A | c.13879A>G (p.Thr4627Ala) | |
| 1 | g.215671226T>G | CA344841613 | USH2A | c.13879A>C (p.Thr4627Pro) | |
| 1 | g.215671227C>A | CA344841616 | USH2A | c.13878G>T (p.Gln4626His) | |
| 1 | g.215671227C= | CA1220372200 | USH2A | c.13878G= (p.Gln4626=) | |
| 1 | g.215671227C>G | CA344841622 | USH2A | c.13878G>C (p.Gln4626His) | dbSNP |
| 1 | g.215671227C>T | CA423426536 | USH2A | c.13878G>A (p.Gln4626=) | |
| 1 | g.215671228T>A | CA344841625 | USH2A | c.13877A>T (p.Gln4626Leu) | |
| 1 | g.215671228T>C | CA344841629 | USH2A | c.13877A>G (p.Gln4626Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215671228T>G | CA344841632 | USH2A | c.13877A>C (p.Gln4626Pro) | |
| 1 | g.215671228T= | CA1220372201 | USH2A | c.13877A= (p.Gln4626=) | |
| 1 | g.215671229G>A | CA344841636 | USH2A | c.13876C>T (p.Gln4626Ter) | ClinVar dbSNP |
| 1 | g.215671229G>C | CA344841639 | USH2A | c.13876C>G (p.Gln4626Glu) | ClinVar dbSNP |
| 1 | g.215671229G= | CA1220372202 | USH2A | c.13876C= (p.Gln4626=) | |
| 1 | g.215671229G>T | CA344841641 | USH2A | c.13876C>A (p.Gln4626Lys) | |
| 1 | g.215671230T>A | CA423426538 | USH2A | c.13875A>T (p.Ile4625=) | |
| 1 | g.215671230T>C | CA344841645 | USH2A | c.13875A>G (p.Ile4625Met) | |
| 1 | g.215671230T>G | CA423426539 | USH2A | c.13875A>C (p.Ile4625=) | |
| 1 | g.215671231A>C | CA344841648 | USH2A | c.13874T>G (p.Ile4625Arg) | |
| 1 | g.215671231A>G | CA344841666 | USH2A | c.13874T>C (p.Ile4625Thr) | |
| 1 | g.215671231A>T | CA344841670 | USH2A | c.13874T>A (p.Ile4625Lys) | |
| 1 | g.215671232T>A | CA344841672 | USH2A | c.13873A>T (p.Ile4625Leu) | |
| 1 | g.215671232T>C | CA344841673 | USH2A | c.13873A>G (p.Ile4625Val) | |
| 1 | g.215671232T>G | CA344841686 | USH2A | c.13873A>C (p.Ile4625Leu) | |
| 1 | g.215671233G>A | CA423426542 | USH2A | c.13872C>T (p.Phe4624=) | ClinVar dbSNP |
| 1 | g.215671233G>C | CA344841688 | USH2A | c.13872C>G (p.Phe4624Leu) | |
| 1 | g.215671233G>T | CA344841690 | USH2A | c.13872C>A (p.Phe4624Leu) | |
| 1 | g.215671234A>C | CA344841699 | USH2A | c.13871T>G (p.Phe4624Cys) | |
| 1 | g.215671234A>G | CA344841701 | USH2A | c.13871T>C (p.Phe4624Ser) | |
| 1 | g.215671234A>T | CA344841706 | USH2A | c.13871T>A (p.Phe4624Tyr) | |
| 1 | g.215671235A= | CA1220372203 | USH2A | c.13870T= (p.Phe4624=) | |
| 1 | g.215671235A>C | CA344841709 | USH2A | c.13870T>G (p.Phe4624Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671235A>G | CA344841710 | USH2A | c.13870T>C (p.Phe4624Leu) | |
| 1 | g.215671235A>T | CA344841712 | USH2A | c.13870T>A (p.Phe4624Ile) | |
| 1 | g.215671236T>A | CA423426544 | USH2A | c.13869A>T (p.Thr4623=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215671236T>C | CA423426545 | USH2A | c.13869A>G (p.Thr4623=) | ClinVar gnomAD v4 |
| 1 | g.215671236T>G | CA423426546 | USH2A | c.13869A>C (p.Thr4623=) | |
| 1 | g.215671237G>A | CA344841728 | USH2A | c.13868C>T (p.Thr4623Ile) | |
| 1 | g.215671237G>C | CA344841726 | USH2A | c.13868C>G (p.Thr4623Arg) | gnomAD v4 |
| 1 | g.215671237G>T | CA344841720 | USH2A | c.13868C>A (p.Thr4623Lys) | gnomAD v4 |