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.215782096T>A | CA344836432 | USH2A | c.10686A>T (p.Glu3562Asp) | |
| 1 | g.215782096T>C | CA1393957 | USH2A | c.10686A>G (p.Glu3562=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215782096T>G | CA344836444 | USH2A | c.10686A>C (p.Glu3562Asp) | |
| 1 | g.215782096T= | CA1220416701 | USH2A | c.10686A= (p.Glu3562=) | |
| 1 | g.215782097T>A | CA344836451 | USH2A | c.10685A>T (p.Glu3562Val) | |
| 1 | g.215782097T>C | CA344836454 | USH2A | c.10685A>G (p.Glu3562Gly) | |
| 1 | g.215782097T>G | CA344836460 | USH2A | c.10685A>C (p.Glu3562Ala) | |
| 1 | g.215782098C>A | CA1393958 | USH2A | c.10684G>T (p.Glu3562Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215782098C= | CA1149138083 | USH2A | c.10684G= (p.Glu3562=) | |
| 1 | g.215782098C>G | CA344836467 | USH2A | c.10684G>C (p.Glu3562Gln) | |
| 1 | g.215782098C>T | CA344836470 | USH2A | c.10684G>A (p.Glu3562Lys) | |
| 1 | g.215782099C>A | CA344836478 | USH2A | c.10683G>T (p.Gln3561His) | |
| 1 | g.215782099C= | CA1220416708 | USH2A | c.10683G= (p.Gln3561=) | |
| 1 | g.215782099C>G | CA1393959 | USH2A | c.10683G>C (p.Gln3561His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215782099C>T | CA1393960 | USH2A | c.10683G>A (p.Gln3561=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215782100T>A | CA344836483 | USH2A | c.10682A>T (p.Gln3561Leu) | |
| 1 | g.215782100T>C | CA37437375 | USH2A | c.10682A>G (p.Gln3561Arg) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215782100T>G | CA344836489 | USH2A | c.10682A>C (p.Gln3561Pro) | |
| 1 | g.215782100T= | CA1220416717 | USH2A | c.10682A= (p.Gln3561=) | |
| 1 | g.215782101G>A | CA344836493 | USH2A | c.10681C>T (p.Gln3561Ter) | |
| 1 | g.215782101G>C | CA344836497 | USH2A | c.10681C>G (p.Gln3561Glu) | |
| 1 | g.215782101G>T | CA344836500 | USH2A | c.10681C>A (p.Gln3561Lys) | |
| 1 | g.215782102A= | CA1220416719 | USH2A | c.10680T= (p.Phe3560=) | |
| 1 | g.215782102A>C | CA344836503 | USH2A | c.10680T>G (p.Phe3560Leu) | |
| 1 | g.215782102A>G | CA423313236 | USH2A | c.10680T>C (p.Phe3560=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215782102A>T | CA344836507 | USH2A | c.10680T>A (p.Phe3560Leu) | |
| 1 | g.215782103A>C | CA344836512 | USH2A | c.10679T>G (p.Phe3560Cys) | |
| 1 | g.215782103A>G | CA344836519 | USH2A | c.10679T>C (p.Phe3560Ser) | |
| 1 | g.215782103A>T | CA344836523 | USH2A | c.10679T>A (p.Phe3560Tyr) | |
| 1 | g.215782104A= | CA1220416720 | USH2A | c.10678T= (p.Phe3560=) | |
| 1 | g.215782104A>C | CA344836529 | USH2A | c.10678T>G (p.Phe3560Val) | |
| 1 | g.215782104A>G | CA344836531 | USH2A | c.10678T>C (p.Phe3560Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215782104A>T | CA344836526 | USH2A | c.10678T>A (p.Phe3560Ile) | |
| 1 | g.215782105T>A | CA423313237 | USH2A | c.10677A>T (p.Pro3559=) | ClinVar dbSNP |
| 1 | g.215782105T>C | CA37437377 | USH2A | c.10677A>G (p.Pro3559=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215782105T>G | CA423313239 | USH2A | c.10677A>C (p.Pro3559=) | |
| 1 | g.215782105T= | CA1220416721 | USH2A | c.10677A= (p.Pro3559=) | |
| 1 | g.215782106G>A | CA344836540 | USH2A | c.10676C>T (p.Pro3559Leu) | dbSNP |
| 1 | g.215782106G>C | CA344836537 | USH2A | c.10676C>G (p.Pro3559Arg) | |
| 1 | g.215782106G= | CA1220416724 | USH2A | c.10676C= (p.Pro3559=) | |
| 1 | g.215782106G>T | CA344836543 | USH2A | c.10676C>A (p.Pro3559Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215782107G>A | CA1393961 | USH2A | c.10675C>T (p.Pro3559Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782107G>C | CA344836544 | USH2A | c.10675C>G (p.Pro3559Ala) | |
| 1 | g.215782107G= | CA1148873137 | USH2A | c.10675C= (p.Pro3559=) | |
| 1 | g.215782107G>T | CA344836546 | USH2A | c.10675C>A (p.Pro3559Thr) | |
| 1 | g.215782108T>A | CA344836550 | USH2A | c.10674A>T (p.Gln3558His) | |
| 1 | g.215782108T>C | CA1393962 | USH2A | c.10674A>G (p.Gln3558=) | ClinVar dbSNP ExAC gnomAD v2 |
| 1 | g.215782108T>G | CA344836561 | USH2A | c.10674A>C (p.Gln3558His) | gnomAD v4 |
| 1 | g.215782108T= | CA1220416730 | USH2A | c.10674A= (p.Gln3558=) | |
| 1 | g.215782109T>A | CA344836566 | USH2A | c.10673A>T (p.Gln3558Leu) | gnomAD v4 |
| 1 | g.215782109T>C | CA344836569 | USH2A | c.10673A>G (p.Gln3558Arg) | |
| 1 | g.215782109T>G | CA344836575 | USH2A | c.10673A>C (p.Gln3558Pro) | |
| 1 | g.215782110G>A | CA344836580 | USH2A | c.10672C>T (p.Gln3558Ter) | COSMIC COSMIC |
| 1 | g.215782110G>C | CA344836583 | USH2A | c.10672C>G (p.Gln3558Glu) | |
| 1 | g.215782110G>T | CA344836587 | USH2A | c.10672C>A (p.Gln3558Lys) | |
| 1 | g.215782111A>C | CA344836597 | USH2A | c.10671T>G (p.Ile3557Met) | |
| 1 | g.215782111A>G | CA423313243 | USH2A | c.10671T>C (p.Ile3557=) | |
| 1 | g.215782111A>T | CA423313244 | USH2A | c.10671T>A (p.Ile3557=) | |
| 1 | g.215782112A>C | CA344836607 | USH2A | c.10670T>G (p.Ile3557Ser) | |
| 1 | g.215782112A>G | CA344836600 | USH2A | c.10670T>C (p.Ile3557Thr) | gnomAD v4 |
| 1 | g.215782112A>T | CA344836604 | USH2A | c.10670T>A (p.Ile3557Asn) | |
| 1 | g.215782113T>A | CA344836612 | USH2A | c.10669A>T (p.Ile3557Phe) | |
| 1 | g.215782113T>C | CA344836617 | USH2A | c.10669A>G (p.Ile3557Val) | |
| 1 | g.215782113T>G | CA344836620 | USH2A | c.10669A>C (p.Ile3557Leu) | |
| 1 | g.215782114T>A | CA423313245 | USH2A | c.10668A>T (p.Gly3556=) | gnomAD v4 |
| 1 | g.215782114T>C | CA423313246 | USH2A | c.10668A>G (p.Gly3556=) | |
| 1 | g.215782114T>G | CA423313248 | USH2A | c.10668A>C (p.Gly3556=) | |
| 1 | g.215782115C>A | CA344836624 | USH2A | c.10667G>T (p.Gly3556Val) | COSMIC |
| 1 | g.215782115C= | CA1144229151 | USH2A | c.10667G= (p.Gly3556=) | |
| 1 | g.215782115C>G | CA344836627 | USH2A | c.10667G>C (p.Gly3556Ala) | gnomAD v4 |
| 1 | g.215782115C>T | CA143229 | USH2A | c.10667G>A (p.Gly3556Glu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215782116C>A | CA344836634 | USH2A | c.10666G>T (p.Gly3556Ter) | ClinVar dbSNP |
| 1 | g.215782116C= | CA1220416731 | USH2A | c.10666G= (p.Gly3556=) | |
| 1 | g.215782116C>G | CA344836637 | USH2A | c.10666G>C (p.Gly3556Arg) | |
| 1 | g.215782116C>T | CA344836642 | USH2A | c.10666G>A (p.Gly3556Arg) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215782117C>A | CA344836646 | USH2A | c.10665G>T (p.Glu3555Asp) | COSMIC COSMIC |
| 1 | g.215782117C>G | CA344836648 | USH2A | c.10665G>C (p.Glu3555Asp) | |
| 1 | g.215782117C>T | CA423313249 | USH2A | c.10665G>A (p.Glu3555=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215782118T>A | CA344836652 | USH2A | c.10664A>T (p.Glu3555Val) | dbSNP gnomAD v4 |
| 1 | g.215782118T>C | CA344836650 | USH2A | c.10664A>G (p.Glu3555Gly) | |
| 1 | g.215782118T>G | CA344836649 | USH2A | c.10664A>C (p.Glu3555Ala) | |
| 1 | g.215782118T= | CA1220416732 | USH2A | c.10664A= (p.Glu3555=) | |
| 1 | g.215782119C>A | CA344836655 | USH2A | c.10663G>T (p.Glu3555Ter) | gnomAD v4 COSMIC COSMIC |
| 1 | g.215782119C= | CA1220416733 | USH2A | c.10663G= (p.Glu3555=) | |
| 1 | g.215782119C>G | CA344836658 | USH2A | c.10663G>C (p.Glu3555Gln) | dbSNP |
| 1 | g.215782119C>T | CA37437400 | USH2A | c.10663G>A (p.Glu3555Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782120T>A | CA344836664 | USH2A | c.10662A>T (p.Lys3554Asn) | |
| 1 | g.215782120T>C | CA423313251 | USH2A | c.10662A>G (p.Lys3554=) | |
| 1 | g.215782120T>G | CA344836666 | USH2A | c.10662A>C (p.Lys3554Asn) | |
| 1 | g.215782121T>A | CA344836670 | USH2A | c.10661A>T (p.Lys3554Ile) | |
| 1 | g.215782121T>C | CA344836673 | USH2A | c.10661A>G (p.Lys3554Arg) | |
| 1 | g.215782121T>G | CA344836676 | USH2A | c.10661A>C (p.Lys3554Thr) | |
| 1 | g.215782122T>A | CA344836683 | USH2A | c.10660A>T (p.Lys3554Ter) | |
| 1 | g.215782122T>C | CA344836684 | USH2A | c.10660A>G (p.Lys3554Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215782122T>G | CA344836688 | USH2A | c.10660A>C (p.Lys3554Gln) | |
| 1 | g.215782122T= | CA1220416734 | USH2A | c.10660A= (p.Lys3554=) | |
| 1 | g.215782123A>C | CA344836694 | USH2A | c.10659T>G (p.Asp3553Glu) | |
| 1 | g.215782123A>G | CA423313252 | USH2A | c.10659T>C (p.Asp3553=) | |
| 1 | g.215782123A>T | CA344836697 | USH2A | c.10659T>A (p.Asp3553Glu) | |
| 1 | g.215782124T>A | CA344836713 | USH2A | c.10658A>T (p.Asp3553Val) | |
| 1 | g.215782124T>C | CA344836704 | USH2A | c.10658A>G (p.Asp3553Gly) | |
| 1 | g.215782124T>G | CA344836707 | USH2A | c.10658A>C (p.Asp3553Ala) | |
| 1 | g.215782125C>A | CA344836718 | USH2A | c.10657G>T (p.Asp3553Tyr) | |
| 1 | g.215782125C= | CA1220416735 | USH2A | c.10657G= (p.Asp3553=) | |
| 1 | g.215782125C>G | CA37437403 | USH2A | c.10657G>C (p.Asp3553His) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215782125C>T | CA344836727 | USH2A | c.10657G>A (p.Asp3553Asn) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215782126A= | CA1148224984 | USH2A | c.10656T= (p.Ser3552=) | |
| 1 | g.215782126A>C | CA423313253 | USH2A | c.10656T>G (p.Ser3552=) | |
| 1 | g.215782126A>G | CA179522 | USH2A | c.10656T>C (p.Ser3552=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215782126A>T | CA423313254 | USH2A | c.10656T>A (p.Ser3552=) | |
| 1 | g.215782127G>A | CA344836745 | USH2A | c.10655C>T (p.Ser3552Phe) | |
| 1 | g.215782127G>C | CA344836748 | USH2A | c.10655C>G (p.Ser3552Cys) | |
| 1 | g.215782127G>T | CA344836750 | USH2A | c.10655C>A (p.Ser3552Tyr) | |
| 1 | g.215782128A>C | CA344836760 | USH2A | c.10654T>G (p.Ser3552Ala) | |
| 1 | g.215782128A>G | CA344836762 | USH2A | c.10654T>C (p.Ser3552Pro) | |
| 1 | g.215782128A>T | CA344836763 | USH2A | c.10654T>A (p.Ser3552Thr) | |
| 1 | g.215782129G>A | CA423313256 | USH2A | c.10653C>T (p.Phe3551=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215782129G>C | CA37437412 | USH2A | c.10653C>G (p.Phe3551Leu) | dbSNP |
| 1 | g.215782129G= | CA1220416736 | USH2A | c.10653C= (p.Phe3551=) | |
| 1 | g.215782129G>T | CA344836766 | USH2A | c.10653C>A (p.Phe3551Leu) | COSMIC COSMIC |
| 1 | g.215782130A= | CA1220416737 | USH2A | c.10652T= (p.Phe3551=) | |
| 1 | g.215782130A>C | CA344836777 | USH2A | c.10652T>G (p.Phe3551Cys) | |
| 1 | g.215782130A>G | CA344836773 | USH2A | c.10652T>C (p.Phe3551Ser) | |
| 1 | g.215782130A>T | CA344836771 | USH2A | c.10652T>A (p.Phe3551Tyr) | dbSNP gnomAD v2 |
| 1 | g.215782131A= | CA1220416738 | USH2A | c.10651T= (p.Phe3551=) | |
| 1 | g.215782131A>C | CA344836784 | USH2A | c.10651T>G (p.Phe3551Val) | |
| 1 | g.215782131A>G | CA344836780 | USH2A | c.10651T>C (p.Phe3551Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215782131A>T | CA344836782 | USH2A | c.10651T>A (p.Phe3551Ile) | |
| 1 | g.215782132G>A | CA423313257 | USH2A | c.10650C>T (p.Ser3550=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782132G>C | CA344836785 | USH2A | c.10650C>G (p.Ser3550Arg) | |
| 1 | g.215782132G= | CA1220416739 | USH2A | c.10650C= (p.Ser3550=) | |
| 1 | g.215782132G>T | CA344836786 | USH2A | c.10650C>A (p.Ser3550Arg) | |
| 1 | g.215782133C>A | CA344836788 | USH2A | c.10649G>T (p.Ser3550Ile) | |
| 1 | g.215782133C>G | CA344836789 | USH2A | c.10649G>C (p.Ser3550Thr) | |
| 1 | g.215782133C>T | CA344836790 | USH2A | c.10649G>A (p.Ser3550Asn) | gnomAD v4 |
| 1 | g.215782134T>A | CA344836797 | USH2A | c.10648A>T (p.Ser3550Cys) | |
| 1 | g.215782134T>C | CA344836793 | USH2A | c.10648A>G (p.Ser3550Gly) | |
| 1 | g.215782134T>G | CA344836795 | USH2A | c.10648A>C (p.Ser3550Arg) | |
| 1 | g.215782135C>A | CA423313258 | USH2A | c.10647G>T (p.Leu3549=) | |
| 1 | g.215782135C>G | CA423313259 | USH2A | c.10647G>C (p.Leu3549=) | |
| 1 | g.215782135C>T | CA423313260 | USH2A | c.10647G>A (p.Leu3549=) | |
| 1 | g.215782136A= | CA1220416740 | USH2A | c.10646T= (p.Leu3549=) | |
| 1 | g.215782136A>C | CA37437414 | USH2A | c.10646T>G (p.Leu3549Arg) | ClinVar dbSNP |
| 1 | g.215782136A>G | CA344836801 | USH2A | c.10646T>C (p.Leu3549Pro) | |
| 1 | g.215782136A>T | CA344836803 | USH2A | c.10646T>A (p.Leu3549Gln) | dbSNP |
| 1 | g.215782137G>A | CA423313261 | USH2A | c.10645C>T (p.Leu3549=) | ClinVar |
| 1 | g.215782137G>C | CA344836806 | USH2A | c.10645C>G (p.Leu3549Val) | |
| 1 | g.215782137G>T | CA344836809 | USH2A | c.10645C>A (p.Leu3549Met) | |
| 1 | g.215782139_215782143del | CA2695199992 | USH2A | c.10641_10645del (p.Ser3548GlufsTer4) | ClinVar |
| 1 | g.215782138T>A | CA423313262 | USH2A | c.10644A>T (p.Ser3548=) | |
| 1 | g.215782138T>C | CA423313263 | USH2A | c.10644A>G (p.Ser3548=) | gnomAD v4 |
| 1 | g.215782138T>G | CA423313264 | USH2A | c.10644A>C (p.Ser3548=) | |
| 1 | g.215782139G>A | CA1393963 | USH2A | c.10643C>T (p.Ser3548Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215782139G>C | CA344836814 | USH2A | c.10643C>G (p.Ser3548Ter) | |
| 1 | g.215782139G= | CA1220416741 | USH2A | c.10643C= (p.Ser3548=) | |
| 1 | g.215782139G>T | CA344836813 | USH2A | c.10643C>A (p.Ser3548Ter) | ClinVar |
| 1 | g.215782140A>C | CA344836815 | USH2A | c.10642T>G (p.Ser3548Ala) | |
| 1 | g.215782140A>G | CA344836817 | USH2A | c.10642T>C (p.Ser3548Pro) | |
| 1 | g.215782140A>T | CA344836819 | USH2A | c.10642T>A (p.Ser3548Thr) | |
| 1 | g.215782141T>A | CA423313265 | USH2A | c.10641A>T (p.Thr3547=) | |
| 1 | g.215782141T>C | CA423313266 | USH2A | c.10641A>G (p.Thr3547=) | ClinVar |
| 1 | g.215782141T>G | CA423313267 | USH2A | c.10641A>C (p.Thr3547=) | |
| 1 | g.215782142G>A | CA1393964 | USH2A | c.10640C>T (p.Thr3547Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215782142G>C | CA344836820 | USH2A | c.10640C>G (p.Thr3547Arg) | |
| 1 | g.215782142G= | CA1148413425 | USH2A | c.10640C= (p.Thr3547=) | |
| 1 | g.215782142G>T | CA344836823 | USH2A | c.10640C>A (p.Thr3547Lys) | gnomAD v4 |
| 1 | g.215782143T>A | CA344836826 | USH2A | c.10639A>T (p.Thr3547Ser) | |
| 1 | g.215782143T>C | CA344836828 | USH2A | c.10639A>G (p.Thr3547Ala) | |
| 1 | g.215782143T>G | CA344836830 | USH2A | c.10639A>C (p.Thr3547Pro) | |
| 1 | g.215782144T>A | CA423313269 | USH2A | c.10638A>T (p.Gly3546=) | |
| 1 | g.215782144T>C | CA423313270 | USH2A | c.10638A>G (p.Gly3546=) | dbSNP |
| 1 | g.215782144T>G | CA423313271 | USH2A | c.10638A>C (p.Gly3546=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215782144T= | CA1220416742 | USH2A | c.10638A= (p.Gly3546=) | |
| 1 | g.215782145C>A | CA344836832 | USH2A | c.10637G>T (p.Gly3546Val) | |
| 1 | g.215782145C>G | CA344836834 | USH2A | c.10637G>C (p.Gly3546Ala) | |
| 1 | g.215782145C>T | CA344836837 | USH2A | c.10637G>A (p.Gly3546Glu) | COSMIC COSMIC |
| 1 | g.215782146C>A | CA344836839 | USH2A | c.10636G>T (p.Gly3546Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215782146C= | CA1220416743 | USH2A | c.10636G= (p.Gly3546=) | |
| 1 | g.215782146C>G | CA344836844 | USH2A | c.10636G>C (p.Gly3546Arg) | |
| 1 | g.215782146C>T | CA344836841 | USH2A | c.10636G>A (p.Gly3546Arg) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215782147C>A | CA423313272 | USH2A | c.10635G>T (p.Arg3545=) | |
| 1 | g.215782147C>G | CA423313274 | USH2A | c.10635G>C (p.Arg3545=) | |
| 1 | g.215782147C>T | CA423313273 | USH2A | c.10635G>A (p.Arg3545=) | |
| 1 | g.215782148C>A | CA344836845 | USH2A | c.10634G>T (p.Arg3545Leu) | |
| 1 | g.215782148C= | CA1144096509 | USH2A | c.10634G= (p.Arg3545=) | |
| 1 | g.215782148C>G | CA344836848 | USH2A | c.10634G>C (p.Arg3545Pro) | ClinVar |
| 1 | g.215782148C>T | CA1393965 | USH2A | c.10634G>A (p.Arg3545Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215782148_215782149insACA | CA2747720972 | USH2A | c.10633_10634insTGT (p.Arg3545delinsLeuTrp) | |
| 1 | g.215782149G>A | CA1393966 | USH2A | c.10633C>T (p.Arg3545Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215782149G>C | CA344836852 | USH2A | c.10633C>G (p.Arg3545Gly) | |
| 1 | g.215782149G= | CA1142071533 | USH2A | c.10633C= (p.Arg3545=) | |
| 1 | g.215782149G>T | CA423313275 | USH2A | c.10633C>A (p.Arg3545=) | |
| 1 | g.215782150A>C | CA344836853 | USH2A | c.10632T>G (p.Phe3544Leu) | |
| 1 | g.215782150A>G | CA423313276 | USH2A | c.10632T>C (p.Phe3544=) | |
| 1 | g.215782150A>T | CA344836855 | USH2A | c.10632T>A (p.Phe3544Leu) | |
| 1 | g.215782151A>C | CA344836857 | USH2A | c.10631T>G (p.Phe3544Cys) | |
| 1 | g.215782151A>G | CA344836860 | USH2A | c.10631T>C (p.Phe3544Ser) | ClinVar dbSNP |
| 1 | g.215782151A>T | CA344836863 | USH2A | c.10631T>A (p.Phe3544Tyr) | |
| 1 | g.215782152A>C | CA344836866 | USH2A | c.10630T>G (p.Phe3544Val) | |
| 1 | g.215782152A>G | CA344836869 | USH2A | c.10630T>C (p.Phe3544Leu) | |
| 1 | g.215782152A>T | CA344836871 | USH2A | c.10630T>A (p.Phe3544Ile) | |
| 1 | g.215782153A>C | CA423313277 | USH2A | c.10629T>G (p.Arg3543=) | |
| 1 | g.215782153A>G | CA423313278 | USH2A | c.10629T>C (p.Arg3543=) | |
| 1 | g.215782153A>T | CA423313279 | USH2A | c.10629T>A (p.Arg3543=) | |
| 1 | g.215782154C>A | CA344836880 | USH2A | c.10628G>T (p.Arg3543Leu) | |
| 1 | g.215782154C= | CA1220416744 | USH2A | c.10628G= (p.Arg3543=) | |
| 1 | g.215782154C>G | CA344836877 | USH2A | c.10628G>C (p.Arg3543Pro) | |
| 1 | g.215782154C>T | CA1393967 | USH2A | c.10628G>A (p.Arg3543His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215782154_215782155insT | CA1139656570 | USH2A | c.10627_10628insA (p.Arg3543GlnfsTer11) | ClinVar dbSNP |
| 1 | g.215782155G>A | CA1393968 | USH2A | c.10627C>T (p.Arg3543Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215782155G>C | CA344836885 | USH2A | c.10627C>G (p.Arg3543Gly) | |
| 1 | g.215782155G= | CA1220416745 | USH2A | c.10627C= (p.Arg3543=) | |
| 1 | g.215782155G>T | CA344836888 | USH2A | c.10627C>A (p.Arg3543Ser) | gnomAD v4 |
| 1 | g.215782155_215782156delinsGT | CA1220416746 | USH2A | c.10626_10627delinsAC (p.Glu3542=) | |
| 1 | g.215782156T>A | CA344836889 | USH2A | c.10626A>T (p.Glu3542Asp) | |
| 1 | g.215782156T>C | CA423313283 | USH2A | c.10626A>G (p.Glu3542=) | |
| 1 | g.215782156T>G | CA344836890 | USH2A | c.10626A>C (p.Glu3542Asp) | |
| 1 | g.215782157del | CA528711607 | USH2A | c.10626del (p.Glu3542AspfsTer8) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215782157T>A | CA344836893 | USH2A | c.10625A>T (p.Glu3542Val) | |
| 1 | g.215782157T>C | CA344836895 | USH2A | c.10625A>G (p.Glu3542Gly) | |
| 1 | g.215782157T>G | CA344836897 | USH2A | c.10625A>C (p.Glu3542Ala) | |
| 1 | g.215782158C>A | CA344836899 | USH2A | c.10624G>T (p.Glu3542Ter) | |
| 1 | g.215782158C>G | CA344836900 | USH2A | c.10624G>C (p.Glu3542Gln) | |
| 1 | g.215782158C>T | CA344836906 | USH2A | c.10624G>A (p.Glu3542Lys) | |
| 1 | g.215782159A>C | CA344836911 | USH2A | c.10623T>G (p.Ile3541Met) | |
| 1 | g.215782159A>G | CA423313286 | USH2A | c.10623T>C (p.Ile3541=) | |
| 1 | g.215782159A>T | CA423313287 | USH2A | c.10623T>A (p.Ile3541=) | gnomAD v4 |
| 1 | g.215782160A>C | CA344836918 | USH2A | c.10622T>G (p.Ile3541Ser) | |
| 1 | g.215782160A>G | CA344836920 | USH2A | c.10622T>C (p.Ile3541Thr) | |
| 1 | g.215782160A>T | CA344836915 | USH2A | c.10622T>A (p.Ile3541Asn) | |
| 1 | g.215782161T>A | CA344836923 | USH2A | c.10621A>T (p.Ile3541Phe) | |
| 1 | g.215782161T>C | CA344836925 | USH2A | c.10621A>G (p.Ile3541Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215782161T>G | CA344836928 | USH2A | c.10621A>C (p.Ile3541Leu) | |
| 1 | g.215782161T= | CA1220416747 | USH2A | c.10621A= (p.Ile3541=) | |
| 1 | g.215782162T>A | CA423313288 | USH2A | c.10620A>T (p.Gly3540=) | |
| 1 | g.215782162T>C | CA423313289 | USH2A | c.10620A>G (p.Gly3540=) | |
| 1 | g.215782162T>G | CA423313290 | USH2A | c.10620A>C (p.Gly3540=) | |
| 1 | g.215782163C>A | CA344836932 | USH2A | c.10619G>T (p.Gly3540Val) | COSMIC COSMIC |
| 1 | g.215782163C>G | CA344836935 | USH2A | c.10619G>C (p.Gly3540Ala) | |
| 1 | g.215782163C>T | CA344836937 | USH2A | c.10619G>A (p.Gly3540Glu) | |
| 1 | g.215782163_215782164insA | CA2747720973 | USH2A | c.10618_10619insT (p.Gly3540ValfsTer3) | |
| 1 | g.215782164C>A | CA344836941 | USH2A | c.10618G>T (p.Gly3540Ter) | |
| 1 | g.215782164C>G | CA344836943 | USH2A | c.10618G>C (p.Gly3540Arg) | |
| 1 | g.215782164C>T | CA344836946 | USH2A | c.10618G>A (p.Gly3540Arg) | |
| 1 | g.215782165A= | CA1220416748 | USH2A | c.10617T= (p.Asn3539=) | |
| 1 | g.215782165A>C | CA344836947 | USH2A | c.10617T>G (p.Asn3539Lys) | |
| 1 | g.215782165A>G | CA423313292 | USH2A | c.10617T>C (p.Asn3539=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215782165A>T | CA344836949 | USH2A | c.10617T>A (p.Asn3539Lys) | |
| 1 | g.215782166T>A | CA344836953 | USH2A | c.10616A>T (p.Asn3539Ile) | |
| 1 | g.215782166T>C | CA344836955 | USH2A | c.10616A>G (p.Asn3539Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215782166T>G | CA344836957 | USH2A | c.10616A>C (p.Asn3539Thr) | |
| 1 | g.215782166T= | CA1220416749 | USH2A | c.10616A= (p.Asn3539=) | |
| 1 | g.215782167T>A | CA344836962 | USH2A | c.10615A>T (p.Asn3539Tyr) | |
| 1 | g.215782167T>C | CA344836960 | USH2A | c.10615A>G (p.Asn3539Asp) | |
| 1 | g.215782167T>G | CA344836958 | USH2A | c.10615A>C (p.Asn3539His) | gnomAD v4 |
| 1 | g.215782168T>A | CA423313298 | USH2A | c.10614A>T (p.Arg3538=) | |
| 1 | g.215782168T>C | CA423313300 | USH2A | c.10614A>G (p.Arg3538=) | |
| 1 | g.215782168T>G | CA423313296 | USH2A | c.10614A>C (p.Arg3538=) | |
| 1 | g.215782169C>A | CA344836965 | USH2A | c.10613G>T (p.Arg3538Leu) | |
| 1 | g.215782169C= | CA1220416750 | USH2A | c.10613G= (p.Arg3538=) | |
| 1 | g.215782169C>G | CA344836967 | USH2A | c.10613G>C (p.Arg3538Pro) | |
| 1 | g.215782169C>T | CA1393969 | USH2A | c.10613G>A (p.Arg3538Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.215782169_215782172delinsCGAA | CA1220416751 | USH2A | c.10610_10613delinsTTCG (p.Leu3537=) | |
| 1 | g.215782170G>A | CA10581638 | USH2A | c.10612C>T (p.Arg3538Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.215782170G>C | CA344836973 | USH2A | c.10612C>G (p.Arg3538Gly) | |
| 1 | g.215782170G= | CA1220416752 | USH2A | c.10612C= (p.Arg3538=) | |
| 1 | g.215782170G>T | CA423313302 | USH2A | c.10612C>A (p.Arg3538=) | |
| 1 | g.215782174_215782176del | CA1012189582 | USH2A | c.10610_10612del (p.Leu3537del) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215782171A>C | CA423313307 | USH2A | c.10611T>G (p.Leu3537=) | |
| 1 | g.215782171A>G | CA423313303 | USH2A | c.10611T>C (p.Leu3537=) | gnomAD v4 |
| 1 | g.215782171A>T | CA423313304 | USH2A | c.10611T>A (p.Leu3537=) | |
| 1 | g.215782172A>C | CA344836975 | USH2A | c.10610T>G (p.Leu3537Arg) | |
| 1 | g.215782172A>G | CA344836978 | USH2A | c.10610T>C (p.Leu3537Pro) | |
| 1 | g.215782172A>T | CA344836980 | USH2A | c.10610T>A (p.Leu3537His) | |
| 1 | g.215782173G>A | CA1393970 | USH2A | c.10609C>T (p.Leu3537Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782173G>C | CA344836985 | USH2A | c.10609C>G (p.Leu3537Val) | |
| 1 | g.215782173G= | CA1141631848 | USH2A | c.10609C= (p.Leu3537=) | |
| 1 | g.215782173G>T | CA344836989 | USH2A | c.10609C>A (p.Leu3537Ile) | |
| 1 | g.215782174A>C | CA423313309 | USH2A | c.10608T>G (p.Leu3536=) | |
| 1 | g.215782174A>G | CA423313311 | USH2A | c.10608T>C (p.Leu3536=) | |
| 1 | g.215782174A>T | CA423313310 | USH2A | c.10608T>A (p.Leu3536=) | |
| 1 | g.215782175A>C | CA344836992 | USH2A | c.10607T>G (p.Leu3536Arg) | |
| 1 | g.215782175A>G | CA344836994 | USH2A | c.10607T>C (p.Leu3536Pro) | |
| 1 | g.215782175A>T | CA344836996 | USH2A | c.10607T>A (p.Leu3536His) | |
| 1 | g.215782176G>A | CA344837002 | USH2A | c.10606C>T (p.Leu3536Phe) | |
| 1 | g.215782176G>C | CA344837005 | USH2A | c.10606C>G (p.Leu3536Val) | |
| 1 | g.215782176G= | CA1220416753 | USH2A | c.10606C= (p.Leu3536=) | |
| 1 | g.215782176G>T | CA344836999 | USH2A | c.10606C>A (p.Leu3536Ile) | dbSNP gnomAD v4 |
| 1 | g.215782177G>A | CA423313312 | USH2A | c.10605C>T (p.Ile3535=) | dbSNP |
| 1 | g.215782177G>C | CA344837009 | USH2A | c.10605C>G (p.Ile3535Met) | |
| 1 | g.215782177G= | CA1220416754 | USH2A | c.10605C= (p.Ile3535=) | |
| 1 | g.215782177G>T | CA423313314 | USH2A | c.10605C>A (p.Ile3535=) | ClinVar dbSNP COSMIC COSMIC |
| 1 | g.215782178A= | CA1220416755 | USH2A | c.10604T= (p.Ile3535=) | |
| 1 | g.215782178A>C | CA344837012 | USH2A | c.10604T>G (p.Ile3535Ser) | |
| 1 | g.215782178A>G | CA344837015 | USH2A | c.10604T>C (p.Ile3535Thr) | |
| 1 | g.215782178A>T | CA344837016 | USH2A | c.10604T>A (p.Ile3535Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782179T>A | CA344837017 | USH2A | c.10603A>T (p.Ile3535Phe) | |
| 1 | g.215782179T>C | CA1393971 | USH2A | c.10603A>G (p.Ile3535Val) | ClinVar dbSNP ExAC gnomAD v4 |
| 1 | g.215782179T>G | CA344837019 | USH2A | c.10603A>C (p.Ile3535Leu) | |
| 1 | g.215782179T= | CA1220416756 | USH2A | c.10603A= (p.Ile3535=) | |
| 1 | g.215782180G>A | CA37437432 | USH2A | c.10602C>T (p.Tyr3534=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782180G>C | CA344837023 | USH2A | c.10602C>G (p.Tyr3534Ter) | |
| 1 | g.215782180G= | CA1220416757 | USH2A | c.10602C= (p.Tyr3534=) | |
| 1 | g.215782180G>T | CA344837026 | USH2A | c.10602C>A (p.Tyr3534Ter) | gnomAD v4 |
| 1 | g.215782181T>A | CA344837028 | USH2A | c.10601A>T (p.Tyr3534Phe) | |
| 1 | g.215782181T>C | CA37437441 | USH2A | c.10601A>G (p.Tyr3534Cys) | dbSNP |
| 1 | g.215782181T>G | CA344837031 | USH2A | c.10601A>C (p.Tyr3534Ser) | |
| 1 | g.215782181T= | CA1220416758 | USH2A | c.10601A= (p.Tyr3534=) | |
| 1 | g.215782182A>C | CA344837035 | USH2A | c.10600T>G (p.Tyr3534Asp) | |
| 1 | g.215782182A>G | CA344837037 | USH2A | c.10600T>C (p.Tyr3534His) | gnomAD v4 |
| 1 | g.215782182A>T | CA344837034 | USH2A | c.10600T>A (p.Tyr3534Asn) | |
| 1 | g.215782183G>A | CA423313318 | USH2A | c.10599C>T (p.Tyr3533=) | dbSNP gnomAD v2 |
| 1 | g.215782183G>C | CA344837040 | USH2A | c.10599C>G (p.Tyr3533Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782183G= | CA1220416759 | USH2A | c.10599C= (p.Tyr3533=) | |
| 1 | g.215782183G>T | CA344837042 | USH2A | c.10599C>A (p.Tyr3533Ter) | |
| 1 | g.215782184T>A | CA344837045 | USH2A | c.10598A>T (p.Tyr3533Phe) | |
| 1 | g.215782184T>C | CA344837047 | USH2A | c.10598A>G (p.Tyr3533Cys) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215782184T>G | CA344837049 | USH2A | c.10598A>C (p.Tyr3533Ser) | |
| 1 | g.215782184T= | CA1220416760 | USH2A | c.10598A= (p.Tyr3533=) | |
| 1 | g.215782185A= | CA1220416761 | USH2A | c.10597T= (p.Tyr3533=) | |
| 1 | g.215782185A>C | CA344837057 | USH2A | c.10597T>G (p.Tyr3533Asp) | |
| 1 | g.215782185A>G | CA344837052 | USH2A | c.10597T>C (p.Tyr3533His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215782185A>T | CA344837054 | USH2A | c.10597T>A (p.Tyr3533Asn) | |
| 1 | g.215782186A>C | CA344837059 | USH2A | c.10596T>G (p.Ile3532Met) | |
| 1 | g.215782186A>G | CA423313322 | USH2A | c.10596T>C (p.Ile3532=) | |
| 1 | g.215782186A>T | CA423313323 | USH2A | c.10596T>A (p.Ile3532=) | |
| 1 | g.215782186_215782187insTA | CA658821746 | USH2A | c.10596_10597insAT (p.Tyr3533IlefsTer18) | ClinVar dbSNP |
| 1 | g.215782186_215782197delinsAATAATAGGACC | CA1220416762 | USH2A | c.10586-1_10596delinsGGTCCTATTATT | |
| 1 | g.215782187A= | CA1220416763 | USH2A | c.10595T= (p.Ile3532=) | |
| 1 | g.215782187A>C | CA344837064 | USH2A | c.10595T>G (p.Ile3532Ser) | |
| 1 | g.215782187A>G | CA1393972 | USH2A | c.10595T>C (p.Ile3532Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782187A>T | CA344837069 | USH2A | c.10595T>A (p.Ile3532Asn) | |
| 1 | g.215782187_215782197del | CA37437453 | USH2A | c.10586-1_10595del | dbSNP |
| 1 | g.215782187_215782197delinsATAATAGGACC | CA1141189276 | USH2A | c.10586-1_10595delinsGGTCCTATTAT | |
| 1 | g.215782188T>A | CA344837073 | USH2A | c.10594A>T (p.Ile3532Phe) | |
| 1 | g.215782188T>C | CA344837077 | USH2A | c.10594A>G (p.Ile3532Val) | |
| 1 | g.215782188T>G | CA344837075 | USH2A | c.10594A>C (p.Ile3532Leu) | |
| 1 | g.215782189A= | CA1220416765 | USH2A | c.10593T= (p.Ile3531=) | |
| 1 | g.215782189A>C | CA344837079 | USH2A | c.10593T>G (p.Ile3531Met) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215782189A>G | CA423313325 | USH2A | c.10593T>C (p.Ile3531=) | ClinVar dbSNP |
| 1 | g.215782189A>T | CA423313324 | USH2A | c.10593T>A (p.Ile3531=) | |
| 1 | g.215782190del | CA2580062047 | USH2A | c.10593del (p.Ile3532PhefsTer18) | ClinVar |
| 1 | g.215782190A= | CA1220416769 | USH2A | c.10592T= (p.Ile3531=) | |
| 1 | g.215782190A>C | CA344837087 | USH2A | c.10592T>G (p.Ile3531Ser) | |
| 1 | g.215782190A>G | CA344837082 | USH2A | c.10592T>C (p.Ile3531Thr) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215782190A>T | CA344837085 | USH2A | c.10592T>A (p.Ile3531Asn) | |
| 1 | g.215782191T>A | CA344837091 | USH2A | c.10591A>T (p.Ile3531Phe) | |
| 1 | g.215782191T>C | CA1393973 | USH2A | c.10591A>G (p.Ile3531Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215782191T>G | CA344837094 | USH2A | c.10591A>C (p.Ile3531Leu) | |
| 1 | g.215782191T= | CA1220416772 | USH2A | c.10591A= (p.Ile3531=) | |
| 1 | g.215782192A= | CA1220416775 | USH2A | c.10590T= (p.Pro3530=) | |
| 1 | g.215782192A>C | CA423313327 | USH2A | c.10590T>G (p.Pro3530=) | |
| 1 | g.215782192A>G | CA423313329 | USH2A | c.10590T>C (p.Pro3530=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215782192A>T | CA423313328 | USH2A | c.10590T>A (p.Pro3530=) | |
| 1 | g.215782193G>A | CA344837098 | USH2A | c.10589C>T (p.Pro3530Leu) | dbSNP gnomAD v4 |
| 1 | g.215782193G>C | CA344837101 | USH2A | c.10589C>G (p.Pro3530Arg) | |
| 1 | g.215782193G= | CA1220416783 | USH2A | c.10589C= (p.Pro3530=) | |
| 1 | g.215782193G>T | CA344837102 | USH2A | c.10589C>A (p.Pro3530His) | |
| 1 | g.215782193_215782194delinsTT | CA645522759 | USH2A | c.10588_10589delinsAA (p.Pro3530Asn) | COSMIC COSMIC |
| 1 | g.215782194G>A | CA344837106 | USH2A | c.10588C>T (p.Pro3530Ser) | |
| 1 | g.215782194G>C | CA344837108 | USH2A | c.10588C>G (p.Pro3530Ala) | |
| 1 | g.215782194G= | CA1220416785 | USH2A | c.10588C= (p.Pro3530=) | |
| 1 | g.215782194G>T | CA344837112 | USH2A | c.10588C>A (p.Pro3530Thr) | dbSNP gnomAD v2 |
| 1 | g.215782195A= | CA1220416786 | USH2A | c.10587T= (p.Gly3529=) | |
| 1 | g.215782195A>C | CA423313333 | USH2A | c.10587T>G (p.Gly3529=) | |
| 1 | g.215782195A>G | CA423313334 | USH2A | c.10587T>C (p.Gly3529=) | |
| 1 | g.215782195A>T | CA423313335 | USH2A | c.10587T>A (p.Gly3529=) | dbSNP |
| 1 | g.215782196C>A | CA344837119 | USH2A | c.10586G>T (p.Gly3529Val) | dbSNP |
| 1 | g.215782196C= | CA1220416788 | USH2A | c.10586G= (p.Gly3529=) | |
| 1 | g.215782196C>G | CA344837117 | USH2A | c.10586G>C (p.Gly3529Ala) | |
| 1 | g.215782196C>T | CA344837116 | USH2A | c.10586G>A (p.Gly3529Asp) |