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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.215728092_215728199delinsAGACCACACGGTAATGGGAGATAATGCCATTGGGAGATTCTGGCTTTGTCCAATTCAACAGAACTGAATGAGCACTCGTGGCTTGAGCCCAAGGAGCTGGAAAATCTT | CA1220396495 | USH2A | c.11897_12004delinsAAGATTTTCCAGCTCCTTGGGCTCAAGCCACGAGTGCTCATTCAGTTCTGTTGAATTGGACAAAGCCAGAATCTCCCAATGGCATTATCTCCCATTACCGTGTGGTCT (p.Gln3966=) | |
| 1 | g.215728095_215728201del | CA1139656579 | USH2A | c.11897_12003del (p.Gln3966LeufsTer11) | ClinVar dbSNP |
| 1 | g.215728167T>A | CA344828337 | USH2A | c.11929A>T (p.Ser3977Cys) | |
| 1 | g.215728167T>C | CA344828338 | USH2A | c.11929A>G (p.Ser3977Gly) | |
| 1 | g.215728167T>G | CA344828339 | USH2A | c.11929A>C (p.Ser3977Arg) | |
| 1 | g.215728168C>A | CA423430024 | USH2A | c.11928G>T (p.Thr3976=) | ClinVar |
| 1 | g.215728168C= | CA1140628633 | USH2A | c.11928G= (p.Thr3976=) | |
| 1 | g.215728168C>G | CA423430025 | USH2A | c.11928G>C (p.Thr3976=) | |
| 1 | g.215728168C>T | CA143277 | USH2A | c.11928G>A (p.Thr3976=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728169G>A | CA143275 | USH2A | c.11927C>T (p.Thr3976Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215728169G>C | CA344828342 | USH2A | c.11927C>G (p.Thr3976Arg) | |
| 1 | g.215728169G= | CA1141863988 | USH2A | c.11927C= (p.Thr3976=) | |
| 1 | g.215728169G>T | CA344828346 | USH2A | c.11927C>A (p.Thr3976Lys) | |
| 1 | g.215728170T>A | CA344828354 | USH2A | c.11926A>T (p.Thr3976Ser) | |
| 1 | g.215728170T>C | CA344828355 | USH2A | c.11926A>G (p.Thr3976Ala) | gnomAD v4 COSMIC COSMIC |
| 1 | g.215728170T>G | CA344828359 | USH2A | c.11926A>C (p.Thr3976Pro) | |
| 1 | g.215728171G>A | CA423430026 | USH2A | c.11925C>T (p.Ala3975=) | |
| 1 | g.215728171G>C | CA423430028 | USH2A | c.11925C>G (p.Ala3975=) | |
| 1 | g.215728171G>T | CA423430027 | USH2A | c.11925C>A (p.Ala3975=) | |
| 1 | g.215728172G>A | CA344828364 | USH2A | c.11924C>T (p.Ala3975Val) | |
| 1 | g.215728172G>C | CA344828372 | USH2A | c.11924C>G (p.Ala3975Gly) | gnomAD v4 |
| 1 | g.215728172G>T | CA344828373 | USH2A | c.11924C>A (p.Ala3975Asp) | |
| 1 | g.215728173C>A | CA344828376 | USH2A | c.11923G>T (p.Ala3975Ser) | |
| 1 | g.215728173C= | CA1143855806 | USH2A | c.11923G= (p.Ala3975=) | |
| 1 | g.215728173C>G | CA344828380 | USH2A | c.11923G>C (p.Ala3975Pro) | gnomAD v4 |
| 1 | g.215728173C>T | CA1393597 | USH2A | c.11923G>A (p.Ala3975Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728174T>A | CA344828387 | USH2A | c.11922A>T (p.Gln3974His) | |
| 1 | g.215728174T>C | CA1393598 | USH2A | c.11922A>G (p.Gln3974=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728174T>G | CA344828391 | USH2A | c.11922A>C (p.Gln3974His) | gnomAD v4 |
| 1 | g.215728174T= | CA1220396518 | USH2A | c.11922A= (p.Gln3974=) | |
| 1 | g.215728175T>A | CA344828397 | USH2A | c.11921A>T (p.Gln3974Leu) | |
| 1 | g.215728175T>C | CA344828400 | USH2A | c.11921A>G (p.Gln3974Arg) | |
| 1 | g.215728175T>G | CA344828394 | USH2A | c.11921A>C (p.Gln3974Pro) | |
| 1 | g.215728176G>A | CA344828405 | USH2A | c.11920C>T (p.Gln3974Ter) | gnomAD v4 |
| 1 | g.215728176G>C | CA344828402 | USH2A | c.11920C>G (p.Gln3974Glu) | |
| 1 | g.215728176G= | CA1141050982 | USH2A | c.11920C= (p.Gln3974=) | |
| 1 | g.215728176G>T | CA1393599 | USH2A | c.11920C>A (p.Gln3974Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728177A= | CA1220396519 | USH2A | c.11919T= (p.Ala3973=) | |
| 1 | g.215728177A>C | CA423430029 | USH2A | c.11919T>G (p.Ala3973=) | |
| 1 | g.215728177A>G | CA423430031 | USH2A | c.11919T>C (p.Ala3973=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215728177A>T | CA423430030 | USH2A | c.11919T>A (p.Ala3973=) | |
| 1 | g.215728178del | CA2586968140 | USH2A | c.11918del (p.Ala3973ValfsTer11) | |
| 1 | g.215728178G>A | CA344828406 | USH2A | c.11918C>T (p.Ala3973Val) | gnomAD v4 |
| 1 | g.215728178G>C | CA344828407 | USH2A | c.11918C>G (p.Ala3973Gly) | |
| 1 | g.215728178G>T | CA344828410 | USH2A | c.11918C>A (p.Ala3973Asp) | |
| 1 | g.215728179C>A | CA344828413 | USH2A | c.11917G>T (p.Ala3973Ser) | |
| 1 | g.215728179C>G | CA344828415 | USH2A | c.11917G>C (p.Ala3973Pro) | |
| 1 | g.215728179C>T | CA344828421 | USH2A | c.11917G>A (p.Ala3973Thr) | |
| 1 | g.215728180C>A | CA37395327 | USH2A | c.11916G>T (p.Trp3972Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728180C= | CA1220396520 | USH2A | c.11916G= (p.Trp3972=) | |
| 1 | g.215728180C>G | CA344828426 | USH2A | c.11916G>C (p.Trp3972Cys) | |
| 1 | g.215728180C>T | CA344828429 | USH2A | c.11916G>A (p.Trp3972Ter) | COSMIC COSMIC |
| 1 | g.215728181C>A | CA344828434 | USH2A | c.11915G>T (p.Trp3972Leu) | |
| 1 | g.215728181C>G | CA344828436 | USH2A | c.11915G>C (p.Trp3972Ser) | |
| 1 | g.215728181C>T | CA344828438 | USH2A | c.11915G>A (p.Trp3972Ter) | |
| 1 | g.215728182A>C | CA344828449 | USH2A | c.11914T>G (p.Trp3972Gly) | |
| 1 | g.215728182A>G | CA344828454 | USH2A | c.11914T>C (p.Trp3972Arg) | |
| 1 | g.215728182A>T | CA344828450 | USH2A | c.11914T>A (p.Trp3972Arg) | |
| 1 | g.215728183A= | CA1220396521 | USH2A | c.11913T= (p.Pro3971=) | |
| 1 | g.215728183A>C | CA423430032 | USH2A | c.11913T>G (p.Pro3971=) | ClinVar |
| 1 | g.215728183A>G | CA1393600 | USH2A | c.11913T>C (p.Pro3971=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728183A>T | CA423430033 | USH2A | c.11913T>A (p.Pro3971=) | dbSNP |
| 1 | g.215728184G>A | CA1393601 | USH2A | c.11912C>T (p.Pro3971Leu) | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215728184G>C | CA344828464 | USH2A | c.11912C>G (p.Pro3971Arg) | |
| 1 | g.215728184G= | CA1148890919 | USH2A | c.11912C= (p.Pro3971=) | |
| 1 | g.215728184G>T | CA344828477 | USH2A | c.11912C>A (p.Pro3971His) | |
| 1 | g.215728185G>A | CA344828480 | USH2A | c.11911C>T (p.Pro3971Ser) | |
| 1 | g.215728185G>C | CA344828488 | USH2A | c.11911C>G (p.Pro3971Ala) | gnomAD v4 |
| 1 | g.215728185G>T | CA344828490 | USH2A | c.11911C>A (p.Pro3971Thr) | |
| 1 | g.215728186A>C | CA423430034 | USH2A | c.11910T>G (p.Ala3970=) | |
| 1 | g.215728186A>G | CA423430035 | USH2A | c.11910T>C (p.Ala3970=) | |
| 1 | g.215728186A>T | CA423430036 | USH2A | c.11910T>A (p.Ala3970=) | |
| 1 | g.215728187G>A | CA344828493 | USH2A | c.11909C>T (p.Ala3970Val) | COSMIC |
| 1 | g.215728187G>C | CA344828498 | USH2A | c.11909C>G (p.Ala3970Gly) | |
| 1 | g.215728187G>T | CA344828510 | USH2A | c.11909C>A (p.Ala3970Asp) | |
| 1 | g.215728188C>A | CA344828524 | USH2A | c.11908G>T (p.Ala3970Ser) | |
| 1 | g.215728188C>G | CA344828527 | USH2A | c.11908G>C (p.Ala3970Pro) | |
| 1 | g.215728188C>T | CA344828521 | USH2A | c.11908G>A (p.Ala3970Thr) | |
| 1 | g.215728189del | CA2586968141 | USH2A | c.11907del (p.Ala3970LeufsTer14) | |
| 1 | g.215728189T>A | CA143273 | USH2A | c.11907A>T (p.Pro3969=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728189T>C | CA423430037 | USH2A | c.11907A>G (p.Pro3969=) | |
| 1 | g.215728189T>G | CA423430038 | USH2A | c.11907A>C (p.Pro3969=) | |
| 1 | g.215728189T= | CA1140723199 | USH2A | c.11907A= (p.Pro3969=) | |
| 1 | g.215728190G>A | CA344828537 | USH2A | c.11906C>T (p.Pro3969Leu) | |
| 1 | g.215728190G>C | CA344828544 | USH2A | c.11906C>G (p.Pro3969Arg) | |
| 1 | g.215728190G>T | CA344828547 | USH2A | c.11906C>A (p.Pro3969Gln) | |
| 1 | g.215728191G>A | CA344828553 | USH2A | c.11905C>T (p.Pro3969Ser) | dbSNP |
| 1 | g.215728191G>C | CA344828569 | USH2A | c.11905C>G (p.Pro3969Ala) | gnomAD v4 |
| 1 | g.215728191G= | CA1220396522 | USH2A | c.11905C= (p.Pro3969=) | |
| 1 | g.215728191G>T | CA344828581 | USH2A | c.11905C>A (p.Pro3969Thr) | |
| 1 | g.215728192A= | CA1220396523 | USH2A | c.11904T= (p.Phe3968=) | |
| 1 | g.215728192A>C | CA344828592 | USH2A | c.11904T>G (p.Phe3968Leu) | |
| 1 | g.215728192A>G | CA37395374 | USH2A | c.11904T>C (p.Phe3968=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215728192A>T | CA344828600 | USH2A | c.11904T>A (p.Phe3968Leu) | |
| 1 | g.215728193A>C | CA344828603 | USH2A | c.11903T>G (p.Phe3968Cys) | |
| 1 | g.215728193A>G | CA344828605 | USH2A | c.11903T>C (p.Phe3968Ser) | |
| 1 | g.215728193A>T | CA344828609 | USH2A | c.11903T>A (p.Phe3968Tyr) | |
| 1 | g.215728194A>C | CA344828617 | USH2A | c.11902T>G (p.Phe3968Val) | |
| 1 | g.215728194A>G | CA344828612 | USH2A | c.11902T>C (p.Phe3968Leu) | |
| 1 | g.215728194A>T | CA344828615 | USH2A | c.11902T>A (p.Phe3968Ile) | |
| 1 | g.215728195A>C | CA344828619 | USH2A | c.11901T>G (p.Asp3967Glu) | |
| 1 | g.215728195A>G | CA423430039 | USH2A | c.11901T>C (p.Asp3967=) | |
| 1 | g.215728195A>T | CA344828639 | USH2A | c.11901T>A (p.Asp3967Glu) | |
| 1 | g.215728196T>A | CA344828642 | USH2A | c.11900A>T (p.Asp3967Val) | |
| 1 | g.215728196T>C | CA344828645 | USH2A | c.11900A>G (p.Asp3967Gly) | gnomAD v4 COSMIC COSMIC |
| 1 | g.215728196T>G | CA344828649 | USH2A | c.11900A>C (p.Asp3967Ala) | |
| 1 | g.215728197C>A | CA344828662 | USH2A | c.11899G>T (p.Asp3967Tyr) | |
| 1 | g.215728197C>G | CA344828663 | USH2A | c.11899G>C (p.Asp3967His) | COSMIC COSMIC |
| 1 | g.215728197C>T | CA344828664 | USH2A | c.11899G>A (p.Asp3967Asn) | |
| 1 | g.215728198T>A | CA344828665 | USH2A | c.11898A>T (p.Gln3966His) | |
| 1 | g.215728198T>C | CA423430040 | USH2A | c.11898A>G (p.Gln3966=) | |
| 1 | g.215728198T>G | CA344828666 | USH2A | c.11898A>C (p.Gln3966His) | |
| 1 | g.215728199T>A | CA344828667 | USH2A | c.11897A>T (p.Gln3966Leu) | |
| 1 | g.215728199T>C | CA344828671 | USH2A | c.11897A>G (p.Gln3966Arg) | |
| 1 | g.215728199T>G | CA344828680 | USH2A | c.11897A>C (p.Gln3966Pro) | |
| 1 | g.215728200G>A | CA344828685 | USH2A | c.11896C>T (p.Gln3966Ter) | |
| 1 | g.215728200G>C | CA344828688 | USH2A | c.11896C>G (p.Gln3966Glu) | |
| 1 | g.215728200G>T | CA344828683 | USH2A | c.11896C>A (p.Gln3966Lys) | |
| 1 | g.215728200_215728201delinsGA | CA1220396524 | USH2A | c.11895_11896delinsTC (p.Pro3965=) | |
| 1 | g.215728201del | CA916082119 | USH2A | c.11895del (p.Gln3966LysfsTer18) | ClinVar dbSNP |
| 1 | g.215728201A>C | CA423430041 | USH2A | c.11895T>G (p.Pro3965=) | |
| 1 | g.215728201A>G | CA423430042 | USH2A | c.11895T>C (p.Pro3965=) | |
| 1 | g.215728201A>T | CA423430043 | USH2A | c.11895T>A (p.Pro3965=) | |
| 1 | g.215728202G>A | CA1393602 | USH2A | c.11894C>T (p.Pro3965Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728202G>C | CA344828689 | USH2A | c.11894C>G (p.Pro3965Arg) | |
| 1 | g.215728202G= | CA1141832499 | USH2A | c.11894C= (p.Pro3965=) | |
| 1 | g.215728202G>T | CA344828690 | USH2A | c.11894C>A (p.Pro3965His) | |
| 1 | g.215728203G>A | CA1393603 | USH2A | c.11893C>T (p.Pro3965Ser) | dbSNP ExAC gnomAD v4 |
| 1 | g.215728203G>C | CA344828697 | USH2A | c.11893C>G (p.Pro3965Ala) | gnomAD v4 COSMIC COSMIC |
| 1 | g.215728203G= | CA1148435507 | USH2A | c.11893C= (p.Pro3965=) | |
| 1 | g.215728203G>T | CA344828699 | USH2A | c.11893C>A (p.Pro3965Thr) | |
| 1 | g.215728204T>A | CA423430044 | USH2A | c.11892A>T (p.Pro3964=) | |
| 1 | g.215728204T>C | CA423430045 | USH2A | c.11892A>G (p.Pro3964=) | gnomAD v4 |
| 1 | g.215728204T>G | CA423430046 | USH2A | c.11892A>C (p.Pro3964=) | dbSNP |
| 1 | g.215728204T= | CA1220396525 | USH2A | c.11892A= (p.Pro3964=) | |
| 1 | g.215728205G>A | CA344828713 | USH2A | c.11891C>T (p.Pro3964Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215728205G>C | CA344828706 | USH2A | c.11891C>G (p.Pro3964Arg) | |
| 1 | g.215728205G= | CA1220396526 | USH2A | c.11891C= (p.Pro3964=) | |
| 1 | g.215728205G>T | CA344828704 | USH2A | c.11891C>A (p.Pro3964Gln) | |
| 1 | g.215728206G>A | CA344828716 | USH2A | c.11890C>T (p.Pro3964Ser) | |
| 1 | g.215728206G>C | CA344828718 | USH2A | c.11890C>G (p.Pro3964Ala) | |
| 1 | g.215728206G>T | CA344828729 | USH2A | c.11890C>A (p.Pro3964Thr) | |
| 1 | g.215728207A>C | CA423430049 | USH2A | c.11889T>G (p.Ala3963=) | gnomAD v4 |
| 1 | g.215728207A>G | CA423430047 | USH2A | c.11889T>C (p.Ala3963=) | |
| 1 | g.215728207A>T | CA423430048 | USH2A | c.11889T>A (p.Ala3963=) | |
| 1 | g.215728208G>A | CA344828732 | USH2A | c.11888C>T (p.Ala3963Val) | |
| 1 | g.215728208G>C | CA344828737 | USH2A | c.11888C>G (p.Ala3963Gly) | |
| 1 | g.215728208G>T | CA344828740 | USH2A | c.11888C>A (p.Ala3963Asp) | COSMIC |
| 1 | g.215728209C>A | CA344828745 | USH2A | c.11887G>T (p.Ala3963Ser) | |
| 1 | g.215728209C= | CA1145326385 | USH2A | c.11887G= (p.Ala3963=) | |
| 1 | g.215728209C>G | CA344828762 | USH2A | c.11887G>C (p.Ala3963Pro) | |
| 1 | g.215728209C>T | CA1393604 | USH2A | c.11887G>A (p.Ala3963Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728210T>A | CA344828764 | USH2A | c.11886A>T (p.Glu3962Asp) | |
| 1 | g.215728210T>C | CA423430050 | USH2A | c.11886A>G (p.Glu3962=) | |
| 1 | g.215728210T>G | CA344828767 | USH2A | c.11886A>C (p.Glu3962Asp) | |
| 1 | g.215728211T>A | CA344828776 | USH2A | c.11885A>T (p.Glu3962Val) | |
| 1 | g.215728211T>C | CA344828781 | USH2A | c.11885A>G (p.Glu3962Gly) | COSMIC COSMIC |
| 1 | g.215728211T>G | CA344828782 | USH2A | c.11885A>C (p.Glu3962Ala) | |
| 1 | g.215728212C>A | CA344828791 | USH2A | c.11884G>T (p.Glu3962Ter) | ClinVar dbSNP |
| 1 | g.215728212C= | CA1220396527 | USH2A | c.11884G= (p.Glu3962=) | |
| 1 | g.215728212C>G | CA344828794 | USH2A | c.11884G>C (p.Glu3962Gln) | |
| 1 | g.215728212C>T | CA344828796 | USH2A | c.11884G>A (p.Glu3962Lys) | |
| 1 | g.215728213C>A | CA423430053 | USH2A | c.11883G>T (p.Leu3961=) | |
| 1 | g.215728213C>G | CA423430051 | USH2A | c.11883G>C (p.Leu3961=) | |
| 1 | g.215728213C>T | CA423430052 | USH2A | c.11883G>A (p.Leu3961=) | |
| 1 | g.215728214A= | CA1220396528 | USH2A | c.11882T= (p.Leu3961=) | |
| 1 | g.215728214A>C | CA1393605 | USH2A | c.11882T>G (p.Leu3961Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728214A>G | CA344828798 | USH2A | c.11882T>C (p.Leu3961Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215728214A>T | CA344828801 | USH2A | c.11882T>A (p.Leu3961Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215728216_215728217del | CA2697554901 | USH2A | c.11881_11882del (p.Leu3961GlyfsTer?) | ClinVar |
| 1 | g.215728215G>A | CA423430054 | USH2A | c.11881C>T (p.Leu3961=) | dbSNP |
| 1 | g.215728215G>C | CA344828805 | USH2A | c.11881C>G (p.Leu3961Val) | |
| 1 | g.215728215G= | CA1220396529 | USH2A | c.11881C= (p.Leu3961=) | |
| 1 | g.215728215G>T | CA1393606 | USH2A | c.11881C>A (p.Leu3961Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728216A>C | CA423430055 | USH2A | c.11880T>G (p.Thr3960=) | |
| 1 | g.215728216A>G | CA423430056 | USH2A | c.11880T>C (p.Thr3960=) | ClinVar |
| 1 | g.215728216A>T | CA423430057 | USH2A | c.11880T>A (p.Thr3960=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215728217G>A | CA344828817 | USH2A | c.11879C>T (p.Thr3960Ile) | gnomAD v4 |
| 1 | g.215728217G>C | CA344828820 | USH2A | c.11879C>G (p.Thr3960Ser) | |
| 1 | g.215728217G>T | CA344828823 | USH2A | c.11879C>A (p.Thr3960Asn) | gnomAD v4 |
| 1 | g.215728218T>A | CA344828824 | USH2A | c.11878A>T (p.Thr3960Ser) | |
| 1 | g.215728218T>C | CA344828825 | USH2A | c.11878A>G (p.Thr3960Ala) | gnomAD v4 |
| 1 | g.215728218T>G | CA344828826 | USH2A | c.11878A>C (p.Thr3960Pro) | dbSNP gnomAD v4 |
| 1 | g.215728218T= | CA1220396530 | USH2A | c.11878A= (p.Thr3960=) | |
| 1 | g.215728219T>A | CA344828827 | USH2A | c.11877A>T (p.Gln3959His) | gnomAD v4 |
| 1 | g.215728219T>C | CA423430058 | USH2A | c.11877A>G (p.Gln3959=) | |
| 1 | g.215728219T>G | CA344828828 | USH2A | c.11877A>C (p.Gln3959His) | |
| 1 | g.215728219_215728221delinsTTG | CA1220396531 | USH2A | c.11875_11877delinsCAA (p.Gln3959=) | |
| 1 | g.215728220T>A | CA344828833 | USH2A | c.11876A>T (p.Gln3959Leu) | |
| 1 | g.215728220T>C | CA344828835 | USH2A | c.11876A>G (p.Gln3959Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215728220T>G | CA344828834 | USH2A | c.11876A>C (p.Gln3959Pro) | |
| 1 | g.215728220T= | CA1220396532 | USH2A | c.11876A= (p.Gln3959=) | |
| 1 | g.215728223_215728224del | CA275365 | USH2A | c.11875_11876del (p.Gln3959AsnfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728221del | CA2586968143 | USH2A | c.11875del (p.Gln3959LysfsTer25) | |
| 1 | g.215728221G>A | CA344828836 | USH2A | c.11875C>T (p.Gln3959Ter) | ClinVar dbSNP |
| 1 | g.215728221G>C | CA344828837 | USH2A | c.11875C>G (p.Gln3959Glu) | |
| 1 | g.215728221G>T | CA344828838 | USH2A | c.11875C>A (p.Gln3959Lys) | |
| 1 | g.215728222T>A | CA423430061 | USH2A | c.11874A>T (p.Thr3958=) | |
| 1 | g.215728222T>C | CA423430060 | USH2A | c.11874A>G (p.Thr3958=) | |
| 1 | g.215728222T>G | CA423430059 | USH2A | c.11874A>C (p.Thr3958=) | |
| 1 | g.215728223G>A | CA344828839 | USH2A | c.11873C>T (p.Thr3958Ile) | |
| 1 | g.215728223G>C | CA344828841 | USH2A | c.11873C>G (p.Thr3958Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728223G= | CA1220396533 | USH2A | c.11873C= (p.Thr3958=) | |
| 1 | g.215728223G>T | CA344828840 | USH2A | c.11873C>A (p.Thr3958Lys) | |
| 1 | g.215728224T>A | CA344828843 | USH2A | c.11872A>T (p.Thr3958Ser) | |
| 1 | g.215728224T>C | CA344828846 | USH2A | c.11872A>G (p.Thr3958Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215728224T>G | CA344828850 | USH2A | c.11872A>C (p.Thr3958Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215728224T= | CA1220396534 | USH2A | c.11872A= (p.Thr3958=) | |
| 1 | g.215728225T>A | CA344828853 | USH2A | c.11871A>T (p.Leu3957Phe) | |
| 1 | g.215728225T>C | CA423430062 | USH2A | c.11871A>G (p.Leu3957=) | |
| 1 | g.215728225T>G | CA344828854 | USH2A | c.11871A>C (p.Leu3957Phe) | dbSNP |
| 1 | g.215728226A>C | CA344828855 | USH2A | c.11870T>G (p.Leu3957Ter) | |
| 1 | g.215728226A>G | CA344828856 | USH2A | c.11870T>C (p.Leu3957Ser) | |
| 1 | g.215728226A>T | CA344828857 | USH2A | c.11870T>A (p.Leu3957Ter) | |
| 1 | g.215728227A= | CA1220396535 | USH2A | c.11869T= (p.Leu3957=) | |
| 1 | g.215728227A>C | CA344828858 | USH2A | c.11869T>G (p.Leu3957Val) | |
| 1 | g.215728227A>G | CA423430063 | USH2A | c.11869T>C (p.Leu3957=) | dbSNP |
| 1 | g.215728227A>T | CA344828859 | USH2A | c.11869T>A (p.Leu3957Ile) | |
| 1 | g.215728228T>A | CA423430064 | USH2A | c.11868A>T (p.Ser3956=) | |
| 1 | g.215728228T>C | CA423430066 | USH2A | c.11868A>G (p.Ser3956=) | |
| 1 | g.215728228T>G | CA423430065 | USH2A | c.11868A>C (p.Ser3956=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215728229G>A | CA344828861 | USH2A | c.11867C>T (p.Ser3956Leu) | |
| 1 | g.215728229G>C | CA37395391 | USH2A | c.11867C>G (p.Ser3956Ter) | ClinVar dbSNP |
| 1 | g.215728229G= | CA1220396536 | USH2A | c.11867C= (p.Ser3956=) | |
| 1 | g.215728229G>T | CA344828865 | USH2A | c.11867C>A (p.Ser3956Ter) | |
| 1 | g.215728230A>C | CA344828874 | USH2A | c.11866T>G (p.Ser3956Ala) | |
| 1 | g.215728230A>G | CA344828876 | USH2A | c.11866T>C (p.Ser3956Pro) | |
| 1 | g.215728230A>T | CA344828873 | USH2A | c.11866T>A (p.Ser3956Thr) | |
| 1 | g.215728232_215728234dup | CA2739275628 | USH2A | c.11864_11866dup (p.Trp3955_Ser3956insTrp) | ClinVar |
| 1 | g.215728231C>A | CA344828880 | USH2A | c.11865G>T (p.Trp3955Cys) | |
| 1 | g.215728231C= | CA1220396537 | USH2A | c.11865G= (p.Trp3955=) | |
| 1 | g.215728231C>G | CA344828878 | USH2A | c.11865G>C (p.Trp3955Cys) | gnomAD v4 |
| 1 | g.215728231C>T | CA344828881 | USH2A | c.11865G>A (p.Trp3955Ter) | dbSNP |
| 1 | g.215728232C>A | CA344828882 | USH2A | c.11864G>T (p.Trp3955Leu) | |
| 1 | g.215728232C= | CA1141189289 | USH2A | c.11864G= (p.Trp3955=) | |
| 1 | g.215728232C>G | CA344828883 | USH2A | c.11864G>C (p.Trp3955Ser) | |
| 1 | g.215728232C>T | CA252235 | USH2A | c.11864G>A (p.Trp3955Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728233A= | CA1220396538 | USH2A | c.11863T= (p.Trp3955=) | |
| 1 | g.215728233A>C | CA344828888 | USH2A | c.11863T>G (p.Trp3955Gly) | |
| 1 | g.215728233A>G | CA344828890 | USH2A | c.11863T>C (p.Trp3955Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215728233A>T | CA344828891 | USH2A | c.11863T>A (p.Trp3955Arg) | |
| 1 | g.215728234C>A | CA423430067 | USH2A | c.11862G>T (p.Leu3954=) | |
| 1 | g.215728234C= | CA1220396539 | USH2A | c.11862G= (p.Leu3954=) | |
| 1 | g.215728234C>G | CA423430068 | USH2A | c.11862G>C (p.Leu3954=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215728234C>T | CA423430069 | USH2A | c.11862G>A (p.Leu3954=) | |
| 1 | g.215728235A>C | CA344828892 | USH2A | c.11861T>G (p.Leu3954Arg) | |
| 1 | g.215728235A>G | CA344828893 | USH2A | c.11861T>C (p.Leu3954Pro) | dbSNP |
| 1 | g.215728235A>T | CA344828894 | USH2A | c.11861T>A (p.Leu3954Gln) | gnomAD v4 |
| 1 | g.215728236G>A | CA423430070 | USH2A | c.11860C>T (p.Leu3954=) | gnomAD v4 |
| 1 | g.215728236G>C | CA344828895 | USH2A | c.11860C>G (p.Leu3954Val) | |
| 1 | g.215728236G>T | CA344828896 | USH2A | c.11860C>A (p.Leu3954Met) | |
| 1 | g.215728238_215728248del | CA2695199986 | USH2A | c.11850_11860del (p.Glu3952ValfsTer?) | ClinVar |
| 1 | g.215728237A= | CA1141836284 | USH2A | c.11859T= (p.Ser3953=) | |
| 1 | g.215728237A>C | CA344828908 | USH2A | c.11859T>G (p.Ser3953Arg) | |
| 1 | g.215728237A>G | CA1393607 | USH2A | c.11859T>C (p.Ser3953=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728237A>T | CA344828905 | USH2A | c.11859T>A (p.Ser3953Arg) | |
| 1 | g.215728238C>A | CA344828911 | USH2A | c.11858G>T (p.Ser3953Ile) | |
| 1 | g.215728238C>G | CA344828913 | USH2A | c.11858G>C (p.Ser3953Thr) | |
| 1 | g.215728238C>T | CA344828915 | USH2A | c.11858G>A (p.Ser3953Asn) | |
| 1 | g.215728239T>A | CA344828918 | USH2A | c.11857A>T (p.Ser3953Cys) | |
| 1 | g.215728239T>C | CA344828921 | USH2A | c.11857A>G (p.Ser3953Gly) | COSMIC COSMIC |
| 1 | g.215728239T>G | CA344828922 | USH2A | c.11857A>C (p.Ser3953Arg) | |
| 1 | g.215728240C>A | CA344828923 | USH2A | c.11856G>T (p.Glu3952Asp) | ClinVar gnomAD v4 |
| 1 | g.215728240C= | CA1220396540 | USH2A | c.11856G= (p.Glu3952=) | |
| 1 | g.215728240C>G | CA1393608 | USH2A | c.11856G>C (p.Glu3952Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728240C>T | CA423430071 | USH2A | c.11856G>A (p.Glu3952=) | |
| 1 | g.215728241T>A | CA344828927 | USH2A | c.11855A>T (p.Glu3952Val) | |
| 1 | g.215728241T>C | CA344828929 | USH2A | c.11855A>G (p.Glu3952Gly) | |
| 1 | g.215728241T>G | CA344828931 | USH2A | c.11855A>C (p.Glu3952Ala) | |
| 1 | g.215728242C>A | CA344828935 | USH2A | c.11854G>T (p.Glu3952Ter) | |
| 1 | g.215728242C>G | CA344828936 | USH2A | c.11854G>C (p.Glu3952Gln) | |
| 1 | g.215728242C>T | CA344828934 | USH2A | c.11854G>A (p.Glu3952Lys) | |
| 1 | g.215728243C>A | CA423430072 | USH2A | c.11853G>T (p.Val3951=) | |
| 1 | g.215728243C>G | CA423430073 | USH2A | c.11853G>C (p.Val3951=) | |
| 1 | g.215728243C>T | CA423430074 | USH2A | c.11853G>A (p.Val3951=) | |
| 1 | g.215728244A>C | CA344828937 | USH2A | c.11852T>G (p.Val3951Gly) | |
| 1 | g.215728244A>G | CA344828938 | USH2A | c.11852T>C (p.Val3951Ala) | |
| 1 | g.215728244A>T | CA344828939 | USH2A | c.11852T>A (p.Val3951Glu) | |
| 1 | g.215728245C>A | CA344828941 | USH2A | c.11851G>T (p.Val3951Leu) | gnomAD v4 |
| 1 | g.215728245C= | CA1220396541 | USH2A | c.11851G= (p.Val3951=) | |
| 1 | g.215728245C>G | CA344828949 | USH2A | c.11851G>C (p.Val3951Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215728245C>T | CA37395395 | USH2A | c.11851G>A (p.Val3951Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215728249_215728271del | CA2573131554 | USH2A | c.11829_11851del (p.Arg3943SerfsTer?) | ClinVar dbSNP |
| 1 | g.215728246T>A | CA423430075 | USH2A | c.11850A>T (p.Ser3950=) | |
| 1 | g.215728246T>C | CA423430076 | USH2A | c.11850A>G (p.Ser3950=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215728246T>G | CA423430077 | USH2A | c.11850A>C (p.Ser3950=) | |
| 1 | g.215728247G>A | CA344828953 | USH2A | c.11849C>T (p.Ser3950Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215728247G>C | CA344828954 | USH2A | c.11849C>G (p.Ser3950Ter) | |
| 1 | g.215728247G= | CA1220396542 | USH2A | c.11849C= (p.Ser3950=) | |
| 1 | g.215728247G>T | CA344828957 | USH2A | c.11849C>A (p.Ser3950Ter) | |
| 1 | g.215728248A>C | CA344828961 | USH2A | c.11848T>G (p.Ser3950Ala) | |
| 1 | g.215728248A>G | CA344828964 | USH2A | c.11848T>C (p.Ser3950Pro) | |
| 1 | g.215728248A>T | CA344828965 | USH2A | c.11848T>A (p.Ser3950Thr) | |
| 1 | g.215728249A>C | CA423430080 | USH2A | c.11847T>G (p.Gly3949=) | |
| 1 | g.215728249A>G | CA423430078 | USH2A | c.11847T>C (p.Gly3949=) | |
| 1 | g.215728249A>T | CA423430079 | USH2A | c.11847T>A (p.Gly3949=) | |
| 1 | g.215728250C>A | CA344828968 | USH2A | c.11846G>T (p.Gly3949Val) | ClinVar |
| 1 | g.215728250C= | CA1220396543 | USH2A | c.11846G= (p.Gly3949=) | |
| 1 | g.215728250C>G | CA344828970 | USH2A | c.11846G>C (p.Gly3949Ala) | |
| 1 | g.215728250C>T | CA344828967 | USH2A | c.11846G>A (p.Gly3949Asp) | dbSNP gnomAD v4 |
| 1 | g.215728251C>A | CA344828975 | USH2A | c.11845G>T (p.Gly3949Cys) | |
| 1 | g.215728251C>G | CA344828978 | USH2A | c.11845G>C (p.Gly3949Arg) | gnomAD v4 |
| 1 | g.215728251C>T | CA344828983 | USH2A | c.11845G>A (p.Gly3949Ser) | |
| 1 | g.215728252C>A | CA344828986 | USH2A | c.11844G>T (p.Lys3948Asn) | |
| 1 | g.215728252C>G | CA344828988 | USH2A | c.11844G>C (p.Lys3948Asn) | |
| 1 | g.215728252C>T | CA423430081 | USH2A | c.11844G>A (p.Lys3948=) | |
| 1 | g.215728253_215728368dup | CA2650501610 | USH2A | c.11729_11844dup (p.Gly3949LysfsTer23) | gnomAD v4 |
| 1 | g.215728253T>A | CA344828992 | USH2A | c.11843A>T (p.Lys3948Met) | |
| 1 | g.215728253T>C | CA344828990 | USH2A | c.11843A>G (p.Lys3948Arg) | dbSNP gnomAD v4 |
| 1 | g.215728253T>G | CA344828991 | USH2A | c.11843A>C (p.Lys3948Thr) | |
| 1 | g.215728253T= | CA1220396544 | USH2A | c.11843A= (p.Lys3948=) | |
| 1 | g.215728254T>A | CA344828993 | USH2A | c.11842A>T (p.Lys3948Ter) | |
| 1 | g.215728254T>C | CA344828994 | USH2A | c.11842A>G (p.Lys3948Glu) | ClinVar dbSNP |
| 1 | g.215728254T>G | CA344828995 | USH2A | c.11842A>C (p.Lys3948Gln) | |
| 1 | g.215728254T= | CA1220396545 | USH2A | c.11842A= (p.Lys3948=) | |
| 1 | g.215728255G>A | CA423430083 | USH2A | c.11841C>T (p.Ser3947=) | ClinVar |
| 1 | g.215728255G>C | CA423430082 | USH2A | c.11841C>G (p.Ser3947=) | |
| 1 | g.215728255G>T | CA423430084 | USH2A | c.11841C>A (p.Ser3947=) | |
| 1 | g.215728256dup | CA2586968146 | USH2A | c.11841dup (p.Lys3948GlnfsTer?) | |
| 1 | g.215728256G>A | CA1393609 | USH2A | c.11840C>T (p.Ser3947Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.215728256G>C | CA344828997 | USH2A | c.11840C>G (p.Ser3947Cys) | gnomAD v4 |
| 1 | g.215728256G= | CA1220396546 | USH2A | c.11840C= (p.Ser3947=) | |
| 1 | g.215728256G>T | CA344828999 | USH2A | c.11840C>A (p.Ser3947Tyr) | |
| 1 | g.215728257A>C | CA344829008 | USH2A | c.11839T>G (p.Ser3947Ala) | |
| 1 | g.215728257A>G | CA344829006 | USH2A | c.11839T>C (p.Ser3947Pro) | |
| 1 | g.215728257A>T | CA344829001 | USH2A | c.11839T>A (p.Ser3947Thr) | |
| 1 | g.215728258G>A | CA423430085 | USH2A | c.11838C>T (p.Asn3946=) | |
| 1 | g.215728258G>C | CA344829018 | USH2A | c.11838C>G (p.Asn3946Lys) | |
| 1 | g.215728258G>T | CA344829014 | USH2A | c.11838C>A (p.Asn3946Lys) | |
| 1 | g.215728259T>A | CA344829025 | USH2A | c.11837A>T (p.Asn3946Ile) | |
| 1 | g.215728259T>C | CA344829019 | USH2A | c.11837A>G (p.Asn3946Ser) | |
| 1 | g.215728259T>G | CA344829023 | USH2A | c.11837A>C (p.Asn3946Thr) | |
| 1 | g.215728260T>A | CA344829026 | USH2A | c.11836A>T (p.Asn3946Tyr) | |
| 1 | g.215728260T>C | CA344829027 | USH2A | c.11836A>G (p.Asn3946Asp) | |
| 1 | g.215728260T>G | CA344829028 | USH2A | c.11836A>C (p.Asn3946His) | |
| 1 | g.215728260T= | CA1220396547 | USH2A | c.11836A= (p.Asn3946=) | |
| 1 | g.215728260_215728261insCTG | CA1393610 | USH2A | c.11835_11836insCAG (p.Cys3945_Asn3946insGln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728260_215728261insCTGA | CA1220396549 | USH2A | c.11835_11836insTCAG (p.Asn3946SerfsTer?) | dbSNP |
| 1 | g.215728261A= | CA1220396548 | USH2A | c.11835T= (p.Cys3945=) | |
| 1 | g.215728261A>C | CA344829030 | USH2A | c.11835T>G (p.Cys3945Trp) | dbSNP |
| 1 | g.215728261A>G | CA423430086 | USH2A | c.11835T>C (p.Cys3945=) | |
| 1 | g.215728261A>T | CA344829043 | USH2A | c.11835T>A (p.Cys3945Ter) | |
| 1 | g.215728261_215728263delinsCTGACCC | CA2695199987 | USH2A | c.11833_11835delinsGGGTCAG (p.Cys3945GlyfsTer?) | ClinVar |
| 1 | g.215728262C>A | CA344829054 | USH2A | c.11834G>T (p.Cys3945Phe) | |
| 1 | g.215728262C>G | CA344829055 | USH2A | c.11834G>C (p.Cys3945Ser) | |
| 1 | g.215728262C>T | CA344829058 | USH2A | c.11834G>A (p.Cys3945Tyr) | ClinVar |
| 1 | g.215728262dup | CA1393611 | USH2A | c.11834dup (p.Cys3945TrpfsTer2) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728263A= | CA1220396550 | USH2A | c.11833T= (p.Cys3945=) | |
| 1 | g.215728263A>C | CA1393612 | USH2A | c.11833T>G (p.Cys3945Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728263A>G | CA344829060 | USH2A | c.11833T>C (p.Cys3945Arg) | |
| 1 | g.215728263A>T | CA344829059 | USH2A | c.11833T>A (p.Cys3945Ser) | |
| 1 | g.215728264G>A | CA423430087 | USH2A | c.11832C>T (p.Ala3944=) | ClinVar dbSNP |
| 1 | g.215728264G>C | CA423430088 | USH2A | c.11832C>G (p.Ala3944=) | |
| 1 | g.215728264G>T | CA423430089 | USH2A | c.11832C>A (p.Ala3944=) | |
| 1 | g.215728265G>A | CA344829061 | USH2A | c.11831C>T (p.Ala3944Val) | gnomAD v4 |
| 1 | g.215728265G>C | CA344829063 | USH2A | c.11831C>G (p.Ala3944Gly) | |
| 1 | g.215728265G= | CA1220396551 | USH2A | c.11831C= (p.Ala3944=) | |
| 1 | g.215728265G>T | CA344829065 | USH2A | c.11831C>A (p.Ala3944Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728266C>A | CA344829067 | USH2A | c.11830G>T (p.Ala3944Ser) | |
| 1 | g.215728266C>G | CA344829069 | USH2A | c.11830G>C (p.Ala3944Pro) | gnomAD v4 |
| 1 | g.215728266C>T | CA344829071 | USH2A | c.11830G>A (p.Ala3944Thr) | |
| 1 | g.215728267T>A | CA344829074 | USH2A | c.11829A>T (p.Arg3943Ser) | |
| 1 | g.215728267T>C | CA423430090 | USH2A | c.11829A>G (p.Arg3943=) | |
| 1 | g.215728267T>G | CA344829076 | USH2A | c.11829A>C (p.Arg3943Ser) |