UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.215759685C>A | CA344822504 | USH2A | c.11206G>T (p.Asp3736Tyr) | |
| 1 | g.215759685C= | CA1220412331 | USH2A | c.11206G= (p.Asp3736=) | |
| 1 | g.215759685C>G | CA344822507 | USH2A | c.11206G>C (p.Asp3736His) | |
| 1 | g.215759685C>T | CA344822510 | USH2A | c.11206G>A (p.Asp3736Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215759686A>C | CA423310408 | USH2A | c.11205T>G (p.Thr3735=) | ClinVar dbSNP |
| 1 | g.215759686A>G | CA423310410 | USH2A | c.11205T>C (p.Thr3735=) | |
| 1 | g.215759686A>T | CA423310412 | USH2A | c.11205T>A (p.Thr3735=) | |
| 1 | g.215759687G>A | CA1393796 | USH2A | c.11204C>T (p.Thr3735Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215759687G>C | CA344822513 | USH2A | c.11204C>G (p.Thr3735Ser) | |
| 1 | g.215759687G= | CA1141784679 | USH2A | c.11204C= (p.Thr3735=) | |
| 1 | g.215759687G>T | CA344822516 | USH2A | c.11204C>A (p.Thr3735Asn) | |
| 1 | g.215759688T>A | CA344822521 | USH2A | c.11203A>T (p.Thr3735Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215759688T>C | CA344822523 | USH2A | c.11203A>G (p.Thr3735Ala) | gnomAD v4 |
| 1 | g.215759688T>G | CA344822525 | USH2A | c.11203A>C (p.Thr3735Pro) | dbSNP |
| 1 | g.215759688T= | CA1220412332 | USH2A | c.11203A= (p.Thr3735=) | |
| 1 | g.215759689G>A | CA423310417 | USH2A | c.11202C>T (p.Phe3734=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215759689G>C | CA344822528 | USH2A | c.11202C>G (p.Phe3734Leu) | |
| 1 | g.215759689G= | CA1220412333 | USH2A | c.11202C= (p.Phe3734=) | |
| 1 | g.215759689G>T | CA344822531 | USH2A | c.11202C>A (p.Phe3734Leu) | |
| 1 | g.215759690A>C | CA344822534 | USH2A | c.11201T>G (p.Phe3734Cys) | |
| 1 | g.215759690A>G | CA344822538 | USH2A | c.11201T>C (p.Phe3734Ser) | |
| 1 | g.215759690A>T | CA344822536 | USH2A | c.11201T>A (p.Phe3734Tyr) | |
| 1 | g.215759691A>C | CA344822542 | USH2A | c.11200T>G (p.Phe3734Val) | |
| 1 | g.215759691A>G | CA344822544 | USH2A | c.11200T>C (p.Phe3734Leu) | |
| 1 | g.215759691A>T | CA344822546 | USH2A | c.11200T>A (p.Phe3734Ile) | |
| 1 | g.215759692A>C | CA344822550 | USH2A | c.11199T>G (p.Asn3733Lys) | |
| 1 | g.215759692A>G | CA423310422 | USH2A | c.11199T>C (p.Asn3733=) | |
| 1 | g.215759692A>T | CA344822551 | USH2A | c.11199T>A (p.Asn3733Lys) | |
| 1 | g.215759693T>A | CA344822554 | USH2A | c.11198A>T (p.Asn3733Ile) | |
| 1 | g.215759693T>C | CA344822556 | USH2A | c.11198A>G (p.Asn3733Ser) | |
| 1 | g.215759693T>G | CA344822559 | USH2A | c.11198A>C (p.Asn3733Thr) | |
| 1 | g.215759694dup | CA2586968166 | USH2A | c.11198dup (p.Asn3733LysfsTer4) | |
| 1 | g.215759694T>A | CA344822561 | USH2A | c.11197A>T (p.Asn3733Tyr) | |
| 1 | g.215759694T>C | CA344822563 | USH2A | c.11197A>G (p.Asn3733Asp) | |
| 1 | g.215759694T>G | CA344822566 | USH2A | c.11197A>C (p.Asn3733His) | |
| 1 | g.215759695C>A | CA344822569 | USH2A | c.11196G>T (p.Gln3732His) | |
| 1 | g.215759695C>G | CA344822571 | USH2A | c.11196G>C (p.Gln3732His) | |
| 1 | g.215759695C>T | CA423310427 | USH2A | c.11196G>A (p.Gln3732=) | gnomAD v4 COSMIC COSMIC |
| 1 | g.215759696T>A | CA344822574 | USH2A | c.11195A>T (p.Gln3732Leu) | |
| 1 | g.215759696T>C | CA344822578 | USH2A | c.11195A>G (p.Gln3732Arg) | |
| 1 | g.215759696T>G | CA344822576 | USH2A | c.11195A>C (p.Gln3732Pro) | gnomAD v4 |
| 1 | g.215759697G>A | CA344822581 | USH2A | c.11194C>T (p.Gln3732Ter) | ClinVar |
| 1 | g.215759697G>C | CA344822583 | USH2A | c.11194C>G (p.Gln3732Glu) | |
| 1 | g.215759697G>T | CA344822584 | USH2A | c.11194C>A (p.Gln3732Lys) | COSMIC COSMIC |
| 1 | g.215759698C>A | CA344822587 | USH2A | c.11193G>T (p.Glu3731Asp) | |
| 1 | g.215759698C= | CA1220412334 | USH2A | c.11193G= (p.Glu3731=) | |
| 1 | g.215759698C>G | CA344822589 | USH2A | c.11193G>C (p.Glu3731Asp) | |
| 1 | g.215759698C>T | CA423310429 | USH2A | c.11193G>A (p.Glu3731=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215759699T>A | CA344822592 | USH2A | c.11192A>T (p.Glu3731Val) | |
| 1 | g.215759699T>C | CA344822593 | USH2A | c.11192A>G (p.Glu3731Gly) | |
| 1 | g.215759699T>G | CA344822595 | USH2A | c.11192A>C (p.Glu3731Ala) | |
| 1 | g.215759700C>A | CA344822598 | USH2A | c.11191G>T (p.Glu3731Ter) | |
| 1 | g.215759700C= | CA1142353686 | USH2A | c.11191G= (p.Glu3731=) | |
| 1 | g.215759700C>G | CA143247 | USH2A | c.11191G>C (p.Glu3731Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215759700C>T | CA344822600 | USH2A | c.11191G>A (p.Glu3731Lys) | dbSNP |
| 1 | g.215759701C>A | CA344822604 | USH2A | c.11190G>T (p.Glu3730Asp) | |
| 1 | g.215759701C>G | CA344822602 | USH2A | c.11190G>C (p.Glu3730Asp) | |
| 1 | g.215759701C>T | CA423310435 | USH2A | c.11190G>A (p.Glu3730=) | COSMIC |
| 1 | g.215759701_215759702delinsCT | CA1220412335 | USH2A | c.11189_11190delinsAG (p.Glu3730=) | |
| 1 | g.215759702del | CA916082121 | USH2A | c.11189del (p.Glu3730GlyfsTer20) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215759702T>A | CA344822606 | USH2A | c.11189A>T (p.Glu3730Val) | |
| 1 | g.215759702T>C | CA344822612 | USH2A | c.11189A>G (p.Glu3730Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215759702T>G | CA344822609 | USH2A | c.11189A>C (p.Glu3730Ala) | |
| 1 | g.215759702T= | CA1220412336 | USH2A | c.11189A= (p.Glu3730=) | |
| 1 | g.215759703C>A | CA344822614 | USH2A | c.11188G>T (p.Glu3730Ter) | |
| 1 | g.215759703C= | CA1220412337 | USH2A | c.11188G= (p.Glu3730=) | |
| 1 | g.215759703C>G | CA344822617 | USH2A | c.11188G>C (p.Glu3730Gln) | |
| 1 | g.215759703C>T | CA1393797 | USH2A | c.11188G>A (p.Glu3730Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215759704A>C | CA344822622 | USH2A | c.11187T>G (p.Ser3729Arg) | |
| 1 | g.215759704A>G | CA423310440 | USH2A | c.11187T>C (p.Ser3729=) | |
| 1 | g.215759704A>T | CA344822624 | USH2A | c.11187T>A (p.Ser3729Arg) | |
| 1 | g.215759705C>A | CA344822626 | USH2A | c.11186G>T (p.Ser3729Ile) | |
| 1 | g.215759705C>G | CA344822629 | USH2A | c.11186G>C (p.Ser3729Thr) | |
| 1 | g.215759705C>T | CA344822631 | USH2A | c.11186G>A (p.Ser3729Asn) | |
| 1 | g.215759706T>A | CA344822635 | USH2A | c.11185A>T (p.Ser3729Cys) | |
| 1 | g.215759706T>C | CA344822637 | USH2A | c.11185A>G (p.Ser3729Gly) | |
| 1 | g.215759706T>G | CA344822638 | USH2A | c.11185A>C (p.Ser3729Arg) | ClinVar |
| 1 | g.215759707G>A | CA423310444 | USH2A | c.11184C>T (p.Gly3728=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215759707G>C | CA423310446 | USH2A | c.11184C>G (p.Gly3728=) | |
| 1 | g.215759707G= | CA1220412338 | USH2A | c.11184C= (p.Gly3728=) | |
| 1 | g.215759707G>T | CA1393798 | USH2A | c.11184C>A (p.Gly3728=) | dbSNP ExAC gnomAD v2 |
| 1 | g.215759708C>A | CA344822644 | USH2A | c.11183G>T (p.Gly3728Val) | ClinVar dbSNP |
| 1 | g.215759708C= | CA1220412339 | USH2A | c.11183G= (p.Gly3728=) | |
| 1 | g.215759708C>G | CA344822641 | USH2A | c.11183G>C (p.Gly3728Ala) | COSMIC COSMIC |
| 1 | g.215759708C>T | CA1393799 | USH2A | c.11183G>A (p.Gly3728Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215759709C>A | CA344822646 | USH2A | c.11182G>T (p.Gly3728Cys) | |
| 1 | g.215759709C>G | CA344822652 | USH2A | c.11182G>C (p.Gly3728Arg) | |
| 1 | g.215759709C>T | CA344822655 | USH2A | c.11182G>A (p.Gly3728Ser) | gnomAD v4 |
| 1 | g.215759710A>C | CA423310453 | USH2A | c.11181T>G (p.Gly3727=) | |
| 1 | g.215759710A>G | CA423310454 | USH2A | c.11181T>C (p.Gly3727=) | |
| 1 | g.215759710A>T | CA423310456 | USH2A | c.11181T>A (p.Gly3727=) | |
| 1 | g.215759711C>A | CA344822658 | USH2A | c.11180G>T (p.Gly3727Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215759711C= | CA1220412340 | USH2A | c.11180G= (p.Gly3727=) | |
| 1 | g.215759711C>G | CA344822659 | USH2A | c.11180G>C (p.Gly3727Ala) | |
| 1 | g.215759711C>T | CA344822662 | USH2A | c.11180G>A (p.Gly3727Asp) | |
| 1 | g.215759712C>A | CA344822664 | USH2A | c.11179G>T (p.Gly3727Cys) | |
| 1 | g.215759712C= | CA1220412341 | USH2A | c.11179G= (p.Gly3727=) | |
| 1 | g.215759712C>G | CA344822666 | USH2A | c.11179G>C (p.Gly3727Arg) | gnomAD v4 |
| 1 | g.215759712C>T | CA344822668 | USH2A | c.11179G>A (p.Gly3727Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215759713C>A | CA423310462 | USH2A | c.11178G>T (p.Leu3726=) | |
| 1 | g.215759713C>G | CA423310463 | USH2A | c.11178G>C (p.Leu3726=) | |
| 1 | g.215759713C>T | CA423310464 | USH2A | c.11178G>A (p.Leu3726=) | |
| 1 | g.215759714A>C | CA344822670 | USH2A | c.11177T>G (p.Leu3726Arg) | |
| 1 | g.215759714A>G | CA344822673 | USH2A | c.11177T>C (p.Leu3726Pro) | |
| 1 | g.215759714A>T | CA344822675 | USH2A | c.11177T>A (p.Leu3726Gln) | |
| 1 | g.215759715G>A | CA423310468 | USH2A | c.11176C>T (p.Leu3726=) | ClinVar |
| 1 | g.215759715G>C | CA344822677 | USH2A | c.11176C>G (p.Leu3726Val) | |
| 1 | g.215759715G>T | CA344822676 | USH2A | c.11176C>A (p.Leu3726Met) | |
| 1 | g.215759716G>A | CA423310472 | USH2A | c.11175C>T (p.Phe3725=) | ClinVar dbSNP |
| 1 | g.215759716G>C | CA344822679 | USH2A | c.11175C>G (p.Phe3725Leu) | dbSNP gnomAD v4 |
| 1 | g.215759716G= | CA1220412342 | USH2A | c.11175C= (p.Phe3725=) | |
| 1 | g.215759716G>T | CA344822681 | USH2A | c.11175C>A (p.Phe3725Leu) | dbSNP |
| 1 | g.215759716_215759717delinsGA | CA1220412343 | USH2A | c.11174_11175delinsTC (p.Phe3725=) | |
| 1 | g.215759717A>C | CA344822683 | USH2A | c.11174T>G (p.Phe3725Cys) | |
| 1 | g.215759717A>G | CA344822686 | USH2A | c.11174T>C (p.Phe3725Ser) | |
| 1 | g.215759717A>T | CA344822688 | USH2A | c.11174T>A (p.Phe3725Tyr) | |
| 1 | g.215759720del | CA913190061 | USH2A | c.11174del (p.Phe3725SerfsTer25) | ClinVar dbSNP |
| 1 | g.215759718A>C | CA344822689 | USH2A | c.11173T>G (p.Phe3725Val) | |
| 1 | g.215759718A>G | CA344822692 | USH2A | c.11173T>C (p.Phe3725Leu) | |
| 1 | g.215759718A>T | CA344822694 | USH2A | c.11173T>A (p.Phe3725Ile) | |
| 1 | g.215759719A>C | CA423310475 | USH2A | c.11172T>G (p.Leu3724=) | |
| 1 | g.215759719A>G | CA423310476 | USH2A | c.11172T>C (p.Leu3724=) | |
| 1 | g.215759719A>T | CA423310478 | USH2A | c.11172T>A (p.Leu3724=) | |
| 1 | g.215759720A>C | CA344822697 | USH2A | c.11171T>G (p.Leu3724Arg) | |
| 1 | g.215759720A>G | CA344822700 | USH2A | c.11171T>C (p.Leu3724Pro) | |
| 1 | g.215759720A>T | CA344822701 | USH2A | c.11171T>A (p.Leu3724His) | |
| 1 | g.215759721G>A | CA344822704 | USH2A | c.11170C>T (p.Leu3724Phe) | gnomAD v4 |
| 1 | g.215759721G>C | CA344822706 | USH2A | c.11170C>G (p.Leu3724Val) | |
| 1 | g.215759721G>T | CA344822709 | USH2A | c.11170C>A (p.Leu3724Ile) | |
| 1 | g.215759722C>A | CA344822714 | USH2A | c.11169G>T (p.Leu3723Phe) | |
| 1 | g.215759722C>G | CA344822712 | USH2A | c.11169G>C (p.Leu3723Phe) | |
| 1 | g.215759722C>T | CA423310483 | USH2A | c.11169G>A (p.Leu3723=) | |
| 1 | g.215759723A= | CA1220412344 | USH2A | c.11168T= (p.Leu3723=) | |
| 1 | g.215759723A>C | CA37425975 | USH2A | c.11168T>G (p.Leu3723Trp) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215759723A>G | CA344822719 | USH2A | c.11168T>C (p.Leu3723Ser) | |
| 1 | g.215759723A>T | CA344822721 | USH2A | c.11168T>A (p.Leu3723Ter) | |
| 1 | g.215759724A>C | CA344822724 | USH2A | c.11167T>G (p.Leu3723Val) | |
| 1 | g.215759724A>G | CA423310487 | USH2A | c.11167T>C (p.Leu3723=) | |
| 1 | g.215759724A>T | CA344822725 | USH2A | c.11167T>A (p.Leu3723Met) | |
| 1 | g.215759725G>A | CA423310493 | USH2A | c.11166C>T (p.Asn3722=) | |
| 1 | g.215759725G>C | CA344822729 | USH2A | c.11166C>G (p.Asn3722Lys) | |
| 1 | g.215759725G>T | CA344822731 | USH2A | c.11166C>A (p.Asn3722Lys) | COSMIC COSMIC |
| 1 | g.215759726T>A | CA344822733 | USH2A | c.11165A>T (p.Asn3722Ile) | |
| 1 | g.215759726T>C | CA344822734 | USH2A | c.11165A>G (p.Asn3722Ser) | |
| 1 | g.215759726T>G | CA344822736 | USH2A | c.11165A>C (p.Asn3722Thr) | |
| 1 | g.215759727T>A | CA344822739 | USH2A | c.11164A>T (p.Asn3722Tyr) | |
| 1 | g.215759727T>C | CA344822741 | USH2A | c.11164A>G (p.Asn3722Asp) | |
| 1 | g.215759727T>G | CA344822744 | USH2A | c.11164A>C (p.Asn3722His) | |
| 1 | g.215759728T>A | CA423310497 | USH2A | c.11163A>T (p.Gly3721=) | |
| 1 | g.215759728T>C | CA423310498 | USH2A | c.11163A>G (p.Gly3721=) | |
| 1 | g.215759728T>G | CA423310499 | USH2A | c.11163A>C (p.Gly3721=) | |
| 1 | g.215759729C>A | CA344822752 | USH2A | c.11162G>T (p.Gly3721Val) | |
| 1 | g.215759729C>G | CA344822749 | USH2A | c.11162G>C (p.Gly3721Ala) | |
| 1 | g.215759729C>T | CA344822748 | USH2A | c.11162G>A (p.Gly3721Glu) | |
| 1 | g.215759730C>A | CA344822755 | USH2A | c.11161G>T (p.Gly3721Ter) | |
| 1 | g.215759730C>G | CA344822758 | USH2A | c.11161G>C (p.Gly3721Arg) | |
| 1 | g.215759730C>T | CA344822757 | USH2A | c.11161G>A (p.Gly3721Arg) | gnomAD v4 COSMIC |
| 1 | g.215759731A>C | CA344822762 | USH2A | c.11160T>G (p.Asn3720Lys) | |
| 1 | g.215759731A>G | CA423310504 | USH2A | c.11160T>C (p.Asn3720=) | |
| 1 | g.215759731A>T | CA344822764 | USH2A | c.11160T>A (p.Asn3720Lys) | |
| 1 | g.215759732T>A | CA344822767 | USH2A | c.11159A>T (p.Asn3720Ile) | |
| 1 | g.215759732T>C | CA1393800 | USH2A | c.11159A>G (p.Asn3720Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215759732T>G | CA344822769 | USH2A | c.11159A>C (p.Asn3720Thr) | gnomAD v4 |
| 1 | g.215759732T= | CA1146992932 | USH2A | c.11159A= (p.Asn3720=) | |
| 1 | g.215759733T>A | CA344822774 | USH2A | c.11158A>T (p.Asn3720Tyr) | |
| 1 | g.215759733T>C | CA344822775 | USH2A | c.11158A>G (p.Asn3720Asp) | |
| 1 | g.215759733T>G | CA344822778 | USH2A | c.11158A>C (p.Asn3720His) | |
| 1 | g.215759734A>C | CA423310507 | USH2A | c.11157T>G (p.Arg3719=) | |
| 1 | g.215759734A>G | CA423310508 | USH2A | c.11157T>C (p.Arg3719=) | ClinVar COSMIC COSMIC |
| 1 | g.215759734A>T | CA423310511 | USH2A | c.11157T>A (p.Arg3719=) | |
| 1 | g.215759735C>A | CA1393801 | USH2A | c.11156G>T (p.Arg3719Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215759735C= | CA1144233560 | USH2A | c.11156G= (p.Arg3719=) | |
| 1 | g.215759735C>G | CA344822783 | USH2A | c.11156G>C (p.Arg3719Pro) | |
| 1 | g.215759735C>T | CA270135 | USH2A | c.11156G>A (p.Arg3719His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215759736G>A | CA1393802 | USH2A | c.11155C>T (p.Arg3719Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215759736G>C | CA344822790 | USH2A | c.11155C>G (p.Arg3719Gly) | |
| 1 | g.215759736G= | CA1220412345 | USH2A | c.11155C= (p.Arg3719=) | |
| 1 | g.215759736G>T | CA344822792 | USH2A | c.11155C>A (p.Arg3719Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215759737A>C | CA344822794 | USH2A | c.11154T>G (p.Ser3718Arg) | |
| 1 | g.215759737A>G | CA423310516 | USH2A | c.11154T>C (p.Ser3718=) | |
| 1 | g.215759737A>T | CA344822796 | USH2A | c.11154T>A (p.Ser3718Arg) | |
| 1 | g.215759738C>A | CA344822805 | USH2A | c.11153G>T (p.Ser3718Ile) | |
| 1 | g.215759738C>G | CA344822802 | USH2A | c.11153G>C (p.Ser3718Thr) | |
| 1 | g.215759738C>T | CA344822800 | USH2A | c.11153G>A (p.Ser3718Asn) | gnomAD v4 |
| 1 | g.215759739T>A | CA344822808 | USH2A | c.11152A>T (p.Ser3718Cys) | |
| 1 | g.215759739T>C | CA344822809 | USH2A | c.11152A>G (p.Ser3718Gly) | |
| 1 | g.215759739T>G | CA344822811 | USH2A | c.11152A>C (p.Ser3718Arg) | |
| 1 | g.215759740C>A | CA344822815 | USH2A | c.11151G>T (p.Leu3717Phe) | |
| 1 | g.215759740C>G | CA344822817 | USH2A | c.11151G>C (p.Leu3717Phe) | COSMIC COSMIC |
| 1 | g.215759740C>T | CA423310523 | USH2A | c.11151G>A (p.Leu3717=) | |
| 1 | g.215759741A>C | CA344822819 | USH2A | c.11150T>G (p.Leu3717Trp) | |
| 1 | g.215759741A>G | CA344822822 | USH2A | c.11150T>C (p.Leu3717Ser) | |
| 1 | g.215759741A>T | CA344822825 | USH2A | c.11150T>A (p.Leu3717Ter) | |
| 1 | g.215759741_215759744del | CA2650526710 | USH2A | c.11147_11150del (p.Gln3716ArgfsTer?) | gnomAD v4 |
| 1 | g.215759742A= | CA1220405506 | USH2A | c.11149T= (p.Leu3717=) | |
| 1 | g.215759742A>C | CA344822827 | USH2A | c.11149T>G (p.Leu3717Val) | |
| 1 | g.215759742A>G | CA1393803 | USH2A | c.11149T>C (p.Leu3717=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215759742A>T | CA344822831 | USH2A | c.11149T>A (p.Leu3717Met) | |
| 1 | g.215759743T>A | CA344822838 | USH2A | c.11148A>T (p.Gln3716His) | |
| 1 | g.215759743T>C | CA1393804 | USH2A | c.11148A>G (p.Gln3716=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215759743T>G | CA344822834 | USH2A | c.11148A>C (p.Gln3716His) | |
| 1 | g.215759743T= | CA1148437531 | USH2A | c.11148A= (p.Gln3716=) | |
| 1 | g.215759744T>A | CA344822842 | USH2A | c.11147A>T (p.Gln3716Leu) | |
| 1 | g.215759744T>C | CA344822844 | USH2A | c.11147A>G (p.Gln3716Arg) | |
| 1 | g.215759744T>G | CA344822846 | USH2A | c.11147A>C (p.Gln3716Pro) | |
| 1 | g.215759745G>A | CA344822849 | USH2A | c.11146C>T (p.Gln3716Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215759745G>C | CA344822851 | USH2A | c.11146C>G (p.Gln3716Glu) | |
| 1 | g.215759745G= | CA1220405511 | USH2A | c.11146C= (p.Gln3716=) | |
| 1 | g.215759745G>T | CA1393805 | USH2A | c.11146C>A (p.Gln3716Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215759746A= | CA1148224981 | USH2A | c.11145T= (p.Tyr3715=) | |
| 1 | g.215759746A>C | CA344822857 | USH2A | c.11145T>G (p.Tyr3715Ter) | |
| 1 | g.215759746A>G | CA423310530 | USH2A | c.11145T>C (p.Tyr3715=) | gnomAD v4 |
| 1 | g.215759746A>T | CA273579 | USH2A | c.11145T>A (p.Tyr3715Ter) | ClinVar dbSNP |
| 1 | g.215759747T>A | CA344822861 | USH2A | c.11144A>T (p.Tyr3715Phe) | |
| 1 | g.215759747T>C | CA344822863 | USH2A | c.11144A>G (p.Tyr3715Cys) | dbSNP gnomAD v4 |
| 1 | g.215759747T>G | CA344822866 | USH2A | c.11144A>C (p.Tyr3715Ser) | |
| 1 | g.215759747T= | CA1220405523 | USH2A | c.11144A= (p.Tyr3715=) | |
| 1 | g.215759748A= | CA1220405530 | USH2A | c.11143T= (p.Tyr3715=) | |
| 1 | g.215759748A>C | CA1393807 | USH2A | c.11143T>G (p.Tyr3715Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215759748A>G | CA344822870 | USH2A | c.11143T>C (p.Tyr3715His) | |
| 1 | g.215759748A>T | CA1393806 | USH2A | c.11143T>A (p.Tyr3715Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215759749T>A | CA344822875 | USH2A | c.11142A>T (p.Gln3714His) | |
| 1 | g.215759749T>C | CA423310535 | USH2A | c.11142A>G (p.Gln3714=) | dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.215759749T>G | CA344822877 | USH2A | c.11142A>C (p.Gln3714His) | |
| 1 | g.215759749T= | CA1220405532 | USH2A | c.11142A= (p.Gln3714=) | |
| 1 | g.215759750T>A | CA344822880 | USH2A | c.11141A>T (p.Gln3714Leu) | |
| 1 | g.215759750T>C | CA344822883 | USH2A | c.11141A>G (p.Gln3714Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215759750T>G | CA344822886 | USH2A | c.11141A>C (p.Gln3714Pro) | gnomAD v4 |
| 1 | g.215759750T= | CA1220405534 | USH2A | c.11141A= (p.Gln3714=) | |
| 1 | g.215759751G>A | CA344822889 | USH2A | c.11140C>T (p.Gln3714Ter) | gnomAD v4 |
| 1 | g.215759751G>C | CA344822891 | USH2A | c.11140C>G (p.Gln3714Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215759751G= | CA1220405538 | USH2A | c.11140C= (p.Gln3714=) | |
| 1 | g.215759751G>T | CA344822894 | USH2A | c.11140C>A (p.Gln3714Lys) | |
| 1 | g.215759752A>C | CA423310540 | USH2A | c.11139T>G (p.Ser3713=) | |
| 1 | g.215759752A>G | CA423310541 | USH2A | c.11139T>C (p.Ser3713=) | |
| 1 | g.215759752A>T | CA423310542 | USH2A | c.11139T>A (p.Ser3713=) | |
| 1 | g.215759753G>A | CA344822897 | USH2A | c.11138C>T (p.Ser3713Phe) | |
| 1 | g.215759753G>C | CA344822899 | USH2A | c.11138C>G (p.Ser3713Cys) | |
| 1 | g.215759753G>T | CA344822902 | USH2A | c.11138C>A (p.Ser3713Tyr) | |
| 1 | g.215759754A>C | CA344822905 | USH2A | c.11137T>G (p.Ser3713Ala) | |
| 1 | g.215759754A>G | CA344822907 | USH2A | c.11137T>C (p.Ser3713Pro) | |
| 1 | g.215759754A>T | CA344822909 | USH2A | c.11137T>A (p.Ser3713Thr) | |
| 1 | g.215759755_215759756del | CA2586968167 | USH2A | c.11136_11137del (p.Gln3714IlefsTer6) | |
| 1 | g.215759755A>C | CA423310543 | USH2A | c.11136T>G (p.Val3712=) | ClinVar dbSNP |
| 1 | g.215759755A>G | CA423310545 | USH2A | c.11136T>C (p.Val3712=) | |
| 1 | g.215759755A>T | CA423310548 | USH2A | c.11136T>A (p.Val3712=) | |
| 1 | g.215759756A>C | CA344822917 | USH2A | c.11135T>G (p.Val3712Gly) | gnomAD v4 |
| 1 | g.215759756A>G | CA344822915 | USH2A | c.11135T>C (p.Val3712Ala) | gnomAD v4 |
| 1 | g.215759756A>T | CA344822913 | USH2A | c.11135T>A (p.Val3712Asp) | |
| 1 | g.215759757C>A | CA344822922 | USH2A | c.11134G>T (p.Val3712Phe) | gnomAD v4 |
| 1 | g.215759757C= | CA1143516629 | USH2A | c.11134G= (p.Val3712=) | |
| 1 | g.215759757C>G | CA344822920 | USH2A | c.11134G>C (p.Val3712Leu) | |
| 1 | g.215759757C>T | CA1393808 | USH2A | c.11134G>A (p.Val3712Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215759758G>A | CA1393809 | USH2A | c.11133C>T (p.Leu3711=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215759758G>C | CA423310555 | USH2A | c.11133C>G (p.Leu3711=) | ClinVar COSMIC COSMIC |
| 1 | g.215759758G= | CA1142008978 | USH2A | c.11133C= (p.Leu3711=) | |
| 1 | g.215759758G>T | CA423310556 | USH2A | c.11133C>A (p.Leu3711=) | |
| 1 | g.215759759A= | CA1220405549 | USH2A | c.11132T= (p.Leu3711=) | |
| 1 | g.215759759A>C | CA344822930 | USH2A | c.11132T>G (p.Leu3711Arg) | |
| 1 | g.215759759A>G | CA344822932 | USH2A | c.11132T>C (p.Leu3711Pro) | dbSNP |
| 1 | g.215759759A>T | CA344822934 | USH2A | c.11132T>A (p.Leu3711His) | |
| 1 | g.215759760G>A | CA344822937 | USH2A | c.11131C>T (p.Leu3711Phe) | |
| 1 | g.215759760G>C | CA344822939 | USH2A | c.11131C>G (p.Leu3711Val) | |
| 1 | g.215759760G>T | CA344822940 | USH2A | c.11131C>A (p.Leu3711Ile) | |
| 1 | g.215759761G>A | CA423310559 | USH2A | c.11130C>T (p.Gly3710=) | gnomAD v4 |
| 1 | g.215759761G>C | CA1393810 | USH2A | c.11130C>G (p.Gly3710=) | dbSNP ExAC gnomAD v2 |
| 1 | g.215759761G= | CA1220405553 | USH2A | c.11130C= (p.Gly3710=) | |
| 1 | g.215759761G>T | CA423310560 | USH2A | c.11130C>A (p.Gly3710=) | |
| 1 | g.215759762C>A | CA344822946 | USH2A | c.11129G>T (p.Gly3710Val) | |
| 1 | g.215759762C= | CA1220405557 | USH2A | c.11129G= (p.Gly3710=) | |
| 1 | g.215759762C>G | CA344822949 | USH2A | c.11129G>C (p.Gly3710Ala) | |
| 1 | g.215759762C>T | CA1393811 | USH2A | c.11129G>A (p.Gly3710Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215759763C>A | CA344822960 | USH2A | c.11128G>T (p.Gly3710Cys) | |
| 1 | g.215759763C>G | CA344822957 | USH2A | c.11128G>C (p.Gly3710Arg) | |
| 1 | g.215759763C>T | CA344822954 | USH2A | c.11128G>A (p.Gly3710Ser) | |
| 1 | g.215759764A= | CA1142292171 | USH2A | c.11127T= (p.Asn3709=) | |
| 1 | g.215759764A>C | CA344822962 | USH2A | c.11127T>G (p.Asn3709Lys) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215759764A>G | CA423310564 | USH2A | c.11127T>C (p.Asn3709=) | |
| 1 | g.215759764A>T | CA37426023 | USH2A | c.11127T>A (p.Asn3709Lys) | dbSNP |
| 1 | g.215759765T>A | CA344822966 | USH2A | c.11126A>T (p.Asn3709Ile) | |
| 1 | g.215759765T>C | CA37426029 | USH2A | c.11126A>G (p.Asn3709Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215759765T>G | CA344822970 | USH2A | c.11126A>C (p.Asn3709Thr) | |
| 1 | g.215759765T= | CA1220405568 | USH2A | c.11126A= (p.Asn3709=) | |
| 1 | g.215759766T>A | CA344822972 | USH2A | c.11125A>T (p.Asn3709Tyr) | |
| 1 | g.215759766T>C | CA344822974 | USH2A | c.11125A>G (p.Asn3709Asp) | |
| 1 | g.215759766T>G | CA344822976 | USH2A | c.11125A>C (p.Asn3709His) | |
| 1 | g.215759767G>A | CA423310567 | USH2A | c.11124C>T (p.Pro3708=) | ClinVar |
| 1 | g.215759767G>C | CA246476 | USH2A | c.11124C>G (p.Pro3708=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215759767G= | CA1220405578 | USH2A | c.11124C= (p.Pro3708=) | |
| 1 | g.215759767G>T | CA423310568 | USH2A | c.11124C>A (p.Pro3708=) | |
| 1 | g.215759768G>A | CA344822980 | USH2A | c.11123C>T (p.Pro3708Leu) | dbSNP |
| 1 | g.215759768G>C | CA344822984 | USH2A | c.11123C>G (p.Pro3708Arg) | |
| 1 | g.215759768G= | CA1220405580 | USH2A | c.11123C= (p.Pro3708=) | |
| 1 | g.215759768G>T | CA344822986 | USH2A | c.11123C>A (p.Pro3708His) | gnomAD v4 |
| 1 | g.215759769G>A | CA344822990 | USH2A | c.11122C>T (p.Pro3708Ser) | |
| 1 | g.215759769G>C | CA344822992 | USH2A | c.11122C>G (p.Pro3708Ala) | |
| 1 | g.215759769G= | CA1220405583 | USH2A | c.11122C= (p.Pro3708=) | |
| 1 | g.215759769G>T | CA344822988 | USH2A | c.11122C>A (p.Pro3708Thr) | dbSNP |
| 1 | g.215759770C>A | CA143245 | USH2A | c.11121G>T (p.Lys3707Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215759770C= | CA1141189271 | USH2A | c.11121G= (p.Lys3707=) | |
| 1 | g.215759770C>G | CA344822994 | USH2A | c.11121G>C (p.Lys3707Asn) | ClinVar |
| 1 | g.215759770C>T | CA423310569 | USH2A | c.11121G>A (p.Lys3707=) | gnomAD v4 |
| 1 | g.215759771T>A | CA344822995 | USH2A | c.11120A>T (p.Lys3707Met) | |
| 1 | g.215759771T>C | CA344822997 | USH2A | c.11120A>G (p.Lys3707Arg) | |
| 1 | g.215759771T>G | CA344822999 | USH2A | c.11120A>C (p.Lys3707Thr) | |
| 1 | g.215759774del | CA2650526711 | USH2A | c.11120del (p.Lys3707SerfsTer11) | ClinVar gnomAD v4 |
| 1 | g.215759772T>A | CA344823002 | USH2A | c.11119A>T (p.Lys3707Ter) | |
| 1 | g.215759772T>C | CA344823004 | USH2A | c.11119A>G (p.Lys3707Glu) | |
| 1 | g.215759772T>G | CA344823005 | USH2A | c.11119A>C (p.Lys3707Gln) | |
| 1 | g.215759773T>A | CA344823007 | USH2A | c.11118A>T (p.Glu3706Asp) | |
| 1 | g.215759773T>C | CA423310571 | USH2A | c.11118A>G (p.Glu3706=) | |
| 1 | g.215759773T>G | CA344823009 | USH2A | c.11118A>C (p.Glu3706Asp) | |
| 1 | g.215759774T>A | CA1393812 | USH2A | c.11117A>T (p.Glu3706Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215759774T>C | CA344823013 | USH2A | c.11117A>G (p.Glu3706Gly) | |
| 1 | g.215759774T>G | CA344823018 | USH2A | c.11117A>C (p.Glu3706Ala) | |
| 1 | g.215759774T= | CA1220405591 | USH2A | c.11117A= (p.Glu3706=) | |
| 1 | g.215759775C>A | CA344823026 | USH2A | c.11116G>T (p.Glu3706Ter) | |
| 1 | g.215759775C>G | CA344823024 | USH2A | c.11116G>C (p.Glu3706Gln) | |
| 1 | g.215759775C>T | CA344823022 | USH2A | c.11116G>A (p.Glu3706Lys) | |
| 1 | g.215759776T>A | CA423310572 | USH2A | c.11115A>T (p.Pro3705=) | |
| 1 | g.215759776T>C | CA423310573 | USH2A | c.11115A>G (p.Pro3705=) | COSMIC COSMIC |
| 1 | g.215759776T>G | CA423310574 | USH2A | c.11115A>C (p.Pro3705=) | |
| 1 | g.215759777G>A | CA344823030 | USH2A | c.11114C>T (p.Pro3705Leu) | |
| 1 | g.215759777G>C | CA344823032 | USH2A | c.11114C>G (p.Pro3705Arg) | |
| 1 | g.215759777G>T | CA344823034 | USH2A | c.11114C>A (p.Pro3705Gln) | |
| 1 | g.215759778G>A | CA37426037 | USH2A | c.11113C>T (p.Pro3705Ser) | ClinVar dbSNP |
| 1 | g.215759778G>C | CA344823037 | USH2A | c.11113C>G (p.Pro3705Ala) | |
| 1 | g.215759778G= | CA1220405597 | USH2A | c.11113C= (p.Pro3705=) | |
| 1 | g.215759778G>T | CA344823039 | USH2A | c.11113C>A (p.Pro3705Thr) | dbSNP |
| 1 | g.215759779C>A | CA423310575 | USH2A | c.11112G>T (p.Leu3704=) | gnomAD v4 COSMIC COSMIC |
| 1 | g.215759779C= | CA1220405598 | USH2A | c.11112G= (p.Leu3704=) | |
| 1 | g.215759779C>G | CA423310577 | USH2A | c.11112G>C (p.Leu3704=) | |
| 1 | g.215759779C>T | CA423310576 | USH2A | c.11112G>A (p.Leu3704=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215759780A>C | CA344823041 | USH2A | c.11111T>G (p.Leu3704Arg) | |
| 1 | g.215759780A>G | CA344823042 | USH2A | c.11111T>C (p.Leu3704Pro) | |
| 1 | g.215759780A>T | CA344823043 | USH2A | c.11111T>A (p.Leu3704Gln) | |
| 1 | g.215759781G>A | CA423310578 | USH2A | c.11110C>T (p.Leu3704=) | |
| 1 | g.215759781G>C | CA344823046 | USH2A | c.11110C>G (p.Leu3704Val) | |
| 1 | g.215759781G>T | CA344823048 | USH2A | c.11110C>A (p.Leu3704Met) | |
| 1 | g.215759782A>C | CA344823050 | USH2A | c.11109T>G (p.Ser3703Arg) | |
| 1 | g.215759782A>G | CA423310579 | USH2A | c.11109T>C (p.Ser3703=) | |
| 1 | g.215759782A>T | CA344823051 | USH2A | c.11109T>A (p.Ser3703Arg) | |
| 1 | g.215759783C>A | CA344823055 | USH2A | c.11108G>T (p.Ser3703Ile) | dbSNP |
| 1 | g.215759783C= | CA1220405603 | USH2A | c.11108G= (p.Ser3703=) | |
| 1 | g.215759783C>G | CA344823058 | USH2A | c.11108G>C (p.Ser3703Thr) | |
| 1 | g.215759783C>T | CA344823054 | USH2A | c.11108G>A (p.Ser3703Asn) | dbSNP gnomAD v4 |
| 1 | g.215759784T>A | CA344823067 | USH2A | c.11107A>T (p.Ser3703Cys) | |
| 1 | g.215759784T>C | CA344823072 | USH2A | c.11107A>G (p.Ser3703Gly) | |
| 1 | g.215759784T>G | CA344823070 | USH2A | c.11107A>C (p.Ser3703Arg) | |
| 1 | g.215759785C>A | CA344823074 | USH2A | c.11106G>T (p.Trp3702Cys) | |
| 1 | g.215759785C>G | CA344823080 | USH2A | c.11106G>C (p.Trp3702Cys) | gnomAD v4 |
| 1 | g.215759785C>T | CA344823077 | USH2A | c.11106G>A (p.Trp3702Ter) | ClinVar dbSNP |