| 1 | g.216246701_216246714del | CA2650512849 | USH2A | c.2680_2693del (p.Phe894AspfsTer3)
| gnomAD v4 |
| 1 | g.216246709_216246710insGAGTGCAAAAAAGAAGCCAAAGGACTTCAGTGTGACACCTGCAGTGT | CA2747735778 | USH2A | c.2691_2692insAGGTGTCACACTGAAGTCCTTTGGCTTCTTTTTTGCACTCACACTGC (p.Gln898ArgfsTer?)
| |
| 1 | g.216246709T>A | CA344864259 | USH2A | c.2685A>T (p.Gln895His)
| |
| 1 | g.216246709T>C | CA423322577 | USH2A | c.2685A>G (p.Gln895=)
| gnomAD v4 |
| 1 | g.216246709T>G | CA344864260 | USH2A | c.2685A>C (p.Gln895His)
| |
| 1 | g.216246710T>A | CA344864262 | USH2A | c.2684A>T (p.Gln895Leu)
| |
| 1 | g.216246710T>C | CA344864263 | USH2A | c.2684A>G (p.Gln895Arg)
| |
| 1 | g.216246710T>G | CA344864261 | USH2A | c.2684A>C (p.Gln895Pro)
| |
| 1 | g.216246711G>A | CA344864266 | USH2A | c.2683C>T (p.Gln895Ter)
| ClinVar |
| 1 | g.216246711G>C | CA344864264 | USH2A | c.2683C>G (p.Gln895Glu)
| |
| 1 | g.216246711G>T | CA344864265 | USH2A | c.2683C>A (p.Gln895Lys)
| |
| 1 | g.216246712A>C | CA344864267 | USH2A | c.2682T>G (p.Phe894Leu)
| |
| 1 | g.216246712A>G | CA423322589 | USH2A | c.2682T>C (p.Phe894=)
| |
| 1 | g.216246712A>T | CA344864268 | USH2A | c.2682T>A (p.Phe894Leu)
| |
| 1 | g.216246715del | CA2573132758 | USH2A | c.2682del (p.Gln895AsnfsTer?)
| ClinVar dbSNP |
| 1 | g.216246713A>C | CA344864269 | USH2A | c.2681T>G (p.Phe894Cys)
| |
| 1 | g.216246713A>G | CA344864270 | USH2A | c.2681T>C (p.Phe894Ser)
| |
| 1 | g.216246713A>T | CA344864271 | USH2A | c.2681T>A (p.Phe894Tyr)
| |
| 1 | g.216246714A= | CA1220619091 | USH2A | c.2680T= (p.Phe894=)
| |
| 1 | g.216246714A>C | CA344864272 | USH2A | c.2680T>G (p.Phe894Val)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246714A>G | CA344864273 | USH2A | c.2680T>C (p.Phe894Leu)
| |
| 1 | g.216246714A>T | CA344864274 | USH2A | c.2680T>A (p.Phe894Ile)
| |
| 1 | g.216246715A= | CA1220619092 | USH2A | c.2679T= (p.Asn893=)
| |
| 1 | g.216246715A>C | CA1396190 | USH2A | c.2679T>G (p.Asn893Lys)
| dbSNP ExAC gnomAD v2 |
| 1 | g.216246715A>G | CA423322602 | USH2A | c.2679T>C (p.Asn893=)
| dbSNP |
| 1 | g.216246715A>T | CA344864275 | USH2A | c.2679T>A (p.Asn893Lys)
| |
| 1 | g.216246716T>A | CA344864278 | USH2A | c.2678A>T (p.Asn893Ile)
| |
| 1 | g.216246716T>C | CA344864276 | USH2A | c.2678A>G (p.Asn893Ser)
| |
| 1 | g.216246716T>G | CA344864277 | USH2A | c.2678A>C (p.Asn893Thr)
| |
| 1 | g.216246717T>A | CA344864279 | USH2A | c.2677A>T (p.Asn893Tyr)
| |
| 1 | g.216246717T>C | CA344864280 | USH2A | c.2677A>G (p.Asn893Asp)
| gnomAD v4 |
| 1 | g.216246717T>G | CA344864281 | USH2A | c.2677A>C (p.Asn893His)
| |
| 1 | g.216246718G>A | CA423322613 | USH2A | c.2676C>T (p.Asp892=)
| dbSNP |
| 1 | g.216246718G>C | CA344864282 | USH2A | c.2676C>G (p.Asp892Glu)
| |
| 1 | g.216246718G= | CA1220619093 | USH2A | c.2676C= (p.Asp892=)
| |
| 1 | g.216246718G>T | CA344864283 | USH2A | c.2676C>A (p.Asp892Glu)
| |
| 1 | g.216246719T>A | CA344864284 | USH2A | c.2675A>T (p.Asp892Val)
| |
| 1 | g.216246719T>C | CA344864285 | USH2A | c.2675A>G (p.Asp892Gly)
| COSMIC COSMIC COSMIC |
| 1 | g.216246719T>G | CA344864286 | USH2A | c.2675A>C (p.Asp892Ala)
| |
| 1 | g.216246720C>A | CA344864287 | USH2A | c.2674G>T (p.Asp892Tyr)
| |
| 1 | g.216246720C>G | CA344864288 | USH2A | c.2674G>C (p.Asp892His)
| |
| 1 | g.216246720C>T | CA344864289 | USH2A | c.2674G>A (p.Asp892Asn)
| gnomAD v4 |
| 1 | g.216246721A>C | CA344864290 | USH2A | c.2673T>G (p.Ile891Met)
| |
| 1 | g.216246721A>G | CA423322624 | USH2A | c.2673T>C (p.Ile891=)
| |
| 1 | g.216246721A>T | CA423322626 | USH2A | c.2673T>A (p.Ile891=)
| |
| 1 | g.216246722A= | CA1146410131 | USH2A | c.2672T= (p.Ile891=)
| |
| 1 | g.216246722A>C | CA344864291 | USH2A | c.2672T>G (p.Ile891Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246722A>G | CA1396191 | USH2A | c.2672T>C (p.Ile891Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246722A>T | CA1396192 | USH2A | c.2672T>A (p.Ile891Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246723T>A | CA344864292 | USH2A | c.2671A>T (p.Ile891Phe)
| |
| 1 | g.216246723T>C | CA344864293 | USH2A | c.2671A>G (p.Ile891Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246723T>G | CA344864294 | USH2A | c.2671A>C (p.Ile891Leu)
| |
| 1 | g.216246723T= | CA1220619094 | USH2A | c.2671A= (p.Ile891=)
| |
| 1 | g.216246724G>A | CA423322642 | USH2A | c.2670C>T (p.Thr890=)
| |
| 1 | g.216246724G>C | CA423322640 | USH2A | c.2670C>G (p.Thr890=)
| |
| 1 | g.216246724G= | CA1220619095 | USH2A | c.2670C= (p.Thr890=)
| |
| 1 | g.216246724G>T | CA423322638 | USH2A | c.2670C>A (p.Thr890=)
| ClinVar dbSNP gnomAD v2 |
| 1 | g.216246724_216246725delinsTT | CA645515382 | USH2A | c.2669_2670delinsAA (p.Thr890Lys)
| COSMIC COSMIC COSMIC |
| 1 | g.216246725del | CA2580062116 | USH2A | c.2670del (p.Ile891LeufsTer?)
| ClinVar |
| 1 | g.216246725G>A | CA1396193 | USH2A | c.2669C>T (p.Thr890Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246725G>C | CA344864295 | USH2A | c.2669C>G (p.Thr890Ser)
| |
| 1 | g.216246725G= | CA1220619096 | USH2A | c.2669C= (p.Thr890=)
| |
| 1 | g.216246725G>T | CA344864296 | USH2A | c.2669C>A (p.Thr890Asn)
| |
| 1 | g.216246726T>A | CA344864297 | USH2A | c.2668A>T (p.Thr890Ser)
| |
| 1 | g.216246726T>C | CA344864298 | USH2A | c.2668A>G (p.Thr890Ala)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246726T>G | CA344864299 | USH2A | c.2668A>C (p.Thr890Pro)
| gnomAD v4 |
| 1 | g.216246726T= | CA1220619097 | USH2A | c.2668A= (p.Thr890=)
| |
| 1 | g.216246727C>A | CA344864300 | USH2A | c.2667G>T (p.Leu889Phe)
| |
| 1 | g.216246727C>G | CA344864301 | USH2A | c.2667G>C (p.Leu889Phe)
| COSMIC COSMIC COSMIC |
| 1 | g.216246727C>T | CA423322654 | USH2A | c.2667G>A (p.Leu889=)
| gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216246728A= | CA1220619098 | USH2A | c.2666T= (p.Leu889=)
| |
| 1 | g.216246728A>C | CA344864302 | USH2A | c.2666T>G (p.Leu889Trp)
| gnomAD v4 |
| 1 | g.216246728A>G | CA344864303 | USH2A | c.2666T>C (p.Leu889Ser)
| |
| 1 | g.216246728A>T | CA344864304 | USH2A | c.2666T>A (p.Leu889Ter)
| ClinVar dbSNP |
| 1 | g.216246729A= | CA1220619099 | USH2A | c.2665T= (p.Leu889=)
| |
| 1 | g.216246729A>C | CA344864305 | USH2A | c.2665T>G (p.Leu889Val)
| gnomAD v4 |
| 1 | g.216246729A>G | CA423322663 | USH2A | c.2665T>C (p.Leu889=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246729A>T | CA344864306 | USH2A | c.2665T>A (p.Leu889Met)
| |
| 1 | g.216246730A>C | CA344864307 | USH2A | c.2664T>G (p.Asn888Lys)
| |
| 1 | g.216246730A>G | CA423322666 | USH2A | c.2664T>C (p.Asn888=)
| ClinVar |
| 1 | g.216246730A>T | CA344864308 | USH2A | c.2664T>A (p.Asn888Lys)
| |
| 1 | g.216246731T>A | CA344864309 | USH2A | c.2663A>T (p.Asn888Ile)
| |
| 1 | g.216246731T>C | CA344864310 | USH2A | c.2663A>G (p.Asn888Ser)
| |
| 1 | g.216246731T>G | CA344864311 | USH2A | c.2663A>C (p.Asn888Thr)
| |
| 1 | g.216246732T>A | CA344864312 | USH2A | c.2662A>T (p.Asn888Tyr)
| |
| 1 | g.216246732T>C | CA344864313 | USH2A | c.2662A>G (p.Asn888Asp)
| |
| 1 | g.216246732T>G | CA344864314 | USH2A | c.2662A>C (p.Asn888His)
| |
| 1 | g.216246733G>A | CA423322677 | USH2A | c.2661C>T (p.Tyr887=)
| dbSNP gnomAD v4 |
| 1 | g.216246733G>C | CA10581646 | USH2A | c.2661C>G (p.Tyr887Ter)
| ClinVar dbSNP |
| 1 | g.216246733G= | CA1220619100 | USH2A | c.2661C= (p.Tyr887=)
| |
| 1 | g.216246733G>T | CA344864315 | USH2A | c.2661C>A (p.Tyr887Ter)
| |
| 1 | g.216246734T>A | CA344864316 | USH2A | c.2660A>T (p.Tyr887Phe)
| |
| 1 | g.216246734T>C | CA344864317 | USH2A | c.2660A>G (p.Tyr887Cys)
| |
| 1 | g.216246734T>G | CA344864318 | USH2A | c.2660A>C (p.Tyr887Ser)
| |
| 1 | g.216246735A>C | CA344864321 | USH2A | c.2659T>G (p.Tyr887Asp)
| |
| 1 | g.216246735A>G | CA344864320 | USH2A | c.2659T>C (p.Tyr887His)
| |
| 1 | g.216246735A>T | CA344864319 | USH2A | c.2659T>A (p.Tyr887Asn)
| |
| 1 | g.216246736C>A | CA344864322 | USH2A | c.2658G>T (p.Arg886Ser)
| |
| 1 | g.216246736C= | CA1220619101 | USH2A | c.2658G= (p.Arg886=)
| |
| 1 | g.216246736C>G | CA344864323 | USH2A | c.2658G>C (p.Arg886Ser)
| |
| 1 | g.216246736C>T | CA1396194 | USH2A | c.2658G>A (p.Arg886=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246737C>A | CA344864324 | USH2A | c.2657G>T (p.Arg886Met)
| |
| 1 | g.216246737C>G | CA344864326 | USH2A | c.2657G>C (p.Arg886Thr)
| |
| 1 | g.216246737C>T | CA344864325 | USH2A | c.2657G>A (p.Arg886Lys)
| gnomAD v4 |
| 1 | g.216246738T>A | CA344864327 | USH2A | c.2656A>T (p.Arg886Trp)
| |
| 1 | g.216246738T>C | CA344864328 | USH2A | c.2656A>G (p.Arg886Gly)
| |
| 1 | g.216246738T>G | CA423322702 | USH2A | c.2656A>C (p.Arg886=)
| |
| 1 | g.216246739G>A | CA423322703 | USH2A | c.2655C>T (p.His885=)
| dbSNP gnomAD v4 |
| 1 | g.216246739G>C | CA344864329 | USH2A | c.2655C>G (p.His885Gln)
| gnomAD v4 |
| 1 | g.216246739G= | CA1220619102 | USH2A | c.2655C= (p.His885=)
| |
| 1 | g.216246739G>T | CA344864330 | USH2A | c.2655C>A (p.His885Gln)
| |
| 1 | g.216246740T>A | CA344864331 | USH2A | c.2654A>T (p.His885Leu)
| |
| 1 | g.216246740T>C | CA344864332 | USH2A | c.2654A>G (p.His885Arg)
| |
| 1 | g.216246740T>G | CA344864333 | USH2A | c.2654A>C (p.His885Pro)
| gnomAD v4 |
| 1 | g.216246741G>A | CA1396195 | USH2A | c.2653C>T (p.His885Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246741G>C | CA344864334 | USH2A | c.2653C>G (p.His885Asp)
| |
| 1 | g.216246741G= | CA1148283335 | USH2A | c.2653C= (p.His885=)
| |
| 1 | g.216246741G>T | CA344864335 | USH2A | c.2653C>A (p.His885Asn)
| |
| 1 | g.216246742A>C | CA423322716 | USH2A | c.2652T>G (p.Pro884=)
| |
| 1 | g.216246742A>G | CA423322718 | USH2A | c.2652T>C (p.Pro884=)
| |
| 1 | g.216246742A>T | CA423322723 | USH2A | c.2652T>A (p.Pro884=)
| |
| 1 | g.216246743G>A | CA344864336 | USH2A | c.2651C>T (p.Pro884Leu)
| dbSNP |
| 1 | g.216246743G>C | CA344864337 | USH2A | c.2651C>G (p.Pro884Arg)
| |
| 1 | g.216246743G= | CA1220619103 | USH2A | c.2651C= (p.Pro884=)
| |
| 1 | g.216246743G>T | CA344864338 | USH2A | c.2651C>A (p.Pro884His)
| |
| 1 | g.216246744G>A | CA344864339 | USH2A | c.2650C>T (p.Pro884Ser)
| |
| 1 | g.216246744G>C | CA344864341 | USH2A | c.2650C>G (p.Pro884Ala)
| |
| 1 | g.216246744G= | CA1220619104 | USH2A | c.2650C= (p.Pro884=)
| |
| 1 | g.216246744G>T | CA344864340 | USH2A | c.2650C>A (p.Pro884Thr)
| |
| 1 | g.216246744_216246745delinsGC | CA1220619105 | USH2A | c.2649_2650delinsGC (p.Glu883=)
| |
| 1 | g.216246745del | CA1220619106 | USH2A | c.2649del (p.Glu883AspfsTer7)
| ClinVar dbSNP |
| 1 | g.216246745C>A | CA344864342 | USH2A | c.2649G>T (p.Glu883Asp)
| COSMIC COSMIC COSMIC |
| 1 | g.216246745C>G | CA344864343 | USH2A | c.2649G>C (p.Glu883Asp)
| |
| 1 | g.216246745C>T | CA423322733 | USH2A | c.2649G>A (p.Glu883=)
| ClinVar dbSNP |
| 1 | g.216246745dup | CA916082143 | USH2A | c.2649dup (p.Pro884AlafsTer9)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216246746T>A | CA344864344 | USH2A | c.2648A>T (p.Glu883Val)
| |
| 1 | g.216246746T>C | CA344864345 | USH2A | c.2648A>G (p.Glu883Gly)
| |
| 1 | g.216246746T>G | CA344864346 | USH2A | c.2648A>C (p.Glu883Ala)
| |
| 1 | g.216246747C>A | CA344864347 | USH2A | c.2647G>T (p.Glu883Ter)
| ClinVar |
| 1 | g.216246747C>G | CA344864348 | USH2A | c.2647G>C (p.Glu883Gln)
| |
| 1 | g.216246747C>T | CA344864349 | USH2A | c.2647G>A (p.Glu883Lys)
| |
| 1 | g.216246748A>C | CA344864350 | USH2A | c.2646T>G (p.Cys882Trp)
| |
| 1 | g.216246748A>G | CA423322747 | USH2A | c.2646T>C (p.Cys882=)
| gnomAD v4 |
| 1 | g.216246748A>T | CA344864351 | USH2A | c.2646T>A (p.Cys882Ter)
| |
| 1 | g.216246749C>A | CA344864354 | USH2A | c.2645G>T (p.Cys882Phe)
| |
| 1 | g.216246749C>G | CA344864353 | USH2A | c.2645G>C (p.Cys882Ser)
| |
| 1 | g.216246749C>T | CA344864352 | USH2A | c.2645G>A (p.Cys882Tyr)
| gnomAD v4 |
| 1 | g.216246750A>C | CA344864357 | USH2A | c.2644T>G (p.Cys882Gly)
| |
| 1 | g.216246750A>G | CA344864355 | USH2A | c.2644T>C (p.Cys882Arg)
| |
| 1 | g.216246750A>T | CA344864356 | USH2A | c.2644T>A (p.Cys882Ser)
| gnomAD v4 |
| 1 | g.216246751C>A | CA344864358 | USH2A | c.2643G>T (p.Gln881His)
| |
| 1 | g.216246751C= | CA1220619107 | USH2A | c.2643G= (p.Gln881=)
| |
| 1 | g.216246751C>G | CA344864359 | USH2A | c.2643G>C (p.Gln881His)
| gnomAD v4 |
| 1 | g.216246751C>T | CA423322760 | USH2A | c.2643G>A (p.Gln881=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246752T>A | CA344864360 | USH2A | c.2642A>T (p.Gln881Leu)
| |
| 1 | g.216246752T>C | CA344864361 | USH2A | c.2642A>G (p.Gln881Arg)
| |
| 1 | g.216246752T>G | CA1396196 | USH2A | c.2642A>C (p.Gln881Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246752T= | CA1220619108 | USH2A | c.2642A= (p.Gln881=)
| |
| 1 | g.216246753G>A | CA344864362 | USH2A | c.2641C>T (p.Gln881Ter)
| |
| 1 | g.216246753G>C | CA344864363 | USH2A | c.2641C>G (p.Gln881Glu)
| |
| 1 | g.216246753G>T | CA344864364 | USH2A | c.2641C>A (p.Gln881Lys)
| |
| 1 | g.216246754A>C | CA344864365 | USH2A | c.2640T>G (p.Asn880Lys)
| |
| 1 | g.216246754A>G | CA423322773 | USH2A | c.2640T>C (p.Asn880=)
| ClinVar dbSNP |
| 1 | g.216246754A>T | CA344864366 | USH2A | c.2640T>A (p.Asn880Lys)
| |
| 1 | g.216246755T>A | CA344864368 | USH2A | c.2639A>T (p.Asn880Ile)
| |
| 1 | g.216246755T>C | CA344864369 | USH2A | c.2639A>G (p.Asn880Ser)
| dbSNP |
| 1 | g.216246755T>G | CA344864367 | USH2A | c.2639A>C (p.Asn880Thr)
| |
| 1 | g.216246755T= | CA1220619109 | USH2A | c.2639A= (p.Asn880=)
| |
| 1 | g.216246756T>A | CA344864370 | USH2A | c.2638A>T (p.Asn880Tyr)
| ClinVar |
| 1 | g.216246756T>C | CA344864371 | USH2A | c.2638A>G (p.Asn880Asp)
| |
| 1 | g.216246756T>G | CA344864372 | USH2A | c.2638A>C (p.Asn880His)
| |
| 1 | g.216246757A>C | CA344864373 | USH2A | c.2637T>G (p.Cys879Trp)
| |
| 1 | g.216246757A>G | CA423322785 | USH2A | c.2637T>C (p.Cys879=)
| ClinVar gnomAD v4 |
| 1 | g.216246757A>T | CA344864374 | USH2A | c.2637T>A (p.Cys879Ter)
| |
| 1 | g.216246758C>A | CA344864377 | USH2A | c.2636G>T (p.Cys879Phe)
| |
| 1 | g.216246758C= | CA1220619110 | USH2A | c.2636G= (p.Cys879=)
| |
| 1 | g.216246758C>G | CA344864375 | USH2A | c.2636G>C (p.Cys879Ser)
| |
| 1 | g.216246758C>T | CA344864376 | USH2A | c.2636G>A (p.Cys879Tyr)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246759A>C | CA344864378 | USH2A | c.2635T>G (p.Cys879Gly)
| |
| 1 | g.216246759A>G | CA344864379 | USH2A | c.2635T>C (p.Cys879Arg)
| |
| 1 | g.216246759A>T | CA344864380 | USH2A | c.2635T>A (p.Cys879Ser)
| |
| 1 | g.216246760G>A | CA423322795 | USH2A | c.2634C>T (p.Arg878=)
| |
| 1 | g.216246760G>C | CA423322797 | USH2A | c.2634C>G (p.Arg878=)
| |
| 1 | g.216246760G>T | CA423322798 | USH2A | c.2634C>A (p.Arg878=)
| |
| 1 | g.216246761C>A | CA1396197 | USH2A | c.2633G>T (p.Arg878Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246761C= | CA1143397411 | USH2A | c.2633G= (p.Arg878=)
| |
| 1 | g.216246761C>G | CA1396198 | USH2A | c.2633G>C (p.Arg878Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246761C>T | CA179582 | USH2A | c.2633G>A (p.Arg878His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246762G>A | CA37501164 | USH2A | c.2632C>T (p.Arg878Cys)
| ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216246762G>C | CA344864382 | USH2A | c.2632C>G (p.Arg878Gly)
| |
| 1 | g.216246762G= | CA1220619111 | USH2A | c.2632C= (p.Arg878=)
| |
| 1 | g.216246762G>T | CA344864381 | USH2A | c.2632C>A (p.Arg878Ser)
| |
| 1 | g.216246763A>C | CA423322809 | USH2A | c.2631T>G (p.Leu877=)
| |
| 1 | g.216246763A>G | CA423322813 | USH2A | c.2631T>C (p.Leu877=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216246763A>T | CA423322815 | USH2A | c.2631T>A (p.Leu877=)
| |
| 1 | g.216246764A>C | CA344864383 | USH2A | c.2630T>G (p.Leu877Arg)
| gnomAD v4 |
| 1 | g.216246764A>G | CA344864384 | USH2A | c.2630T>C (p.Leu877Pro)
| |
| 1 | g.216246764A>T | CA344864385 | USH2A | c.2630T>A (p.Leu877His)
| |
| 1 | g.216246764_216246765insTCA | CA2650512850 | USH2A | c.2630_2631insGAT (p.Leu877_Arg878insIle)
| gnomAD v4 |
| 1 | g.216246765G>A | CA344864386 | USH2A | c.2629C>T (p.Leu877Phe)
| |
| 1 | g.216246765G>C | CA344864387 | USH2A | c.2629C>G (p.Leu877Val)
| |
| 1 | g.216246765G>T | CA344864388 | USH2A | c.2629C>A (p.Leu877Ile)
| COSMIC COSMIC COSMIC |
| 1 | g.216246765_216246766insTGTGAC | CA2650512851 | USH2A | c.2628_2629insGTCACA (p.Gly876_Leu877insValThr)
| gnomAD v4 |
| 1 | g.216246766A= | CA1220619112 | USH2A | c.2628T= (p.Gly876=)
| |
| 1 | g.216246766A>C | CA423322816 | USH2A | c.2628T>G (p.Gly876=)
| |
| 1 | g.216246766A>G | CA423322817 | USH2A | c.2628T>C (p.Gly876=)
| |
| 1 | g.216246766A>T | CA37501168 | USH2A | c.2628T>A (p.Gly876=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246767C>A | CA344864389 | USH2A | c.2627G>T (p.Gly876Val)
| |
| 1 | g.216246767C= | CA1220619113 | USH2A | c.2627G= (p.Gly876=)
| |
| 1 | g.216246767C>G | CA344864390 | USH2A | c.2627G>C (p.Gly876Ala)
| |
| 1 | g.216246767C>T | CA1396199 | USH2A | c.2627G>A (p.Gly876Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246768C>A | CA344864391 | USH2A | c.2626G>T (p.Gly876Cys)
| COSMIC COSMIC COSMIC |
| 1 | g.216246768C= | CA1220619114 | USH2A | c.2626G= (p.Gly876=)
| |
| 1 | g.216246768C>G | CA344864392 | USH2A | c.2626G>C (p.Gly876Arg)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246768C>T | CA344864393 | USH2A | c.2626G>A (p.Gly876Ser)
| |
| 1 | g.216246769T>A | CA423322818 | USH2A | c.2625A>T (p.Thr875=)
| |
| 1 | g.216246769T>C | CA423322819 | USH2A | c.2625A>G (p.Thr875=)
| gnomAD v4 |
| 1 | g.216246769T>G | CA423322820 | USH2A | c.2625A>C (p.Thr875=)
| |
| 1 | g.216246770G>A | CA344864396 | USH2A | c.2624C>T (p.Thr875Ile)
| |
| 1 | g.216246770G>C | CA344864395 | USH2A | c.2624C>G (p.Thr875Arg)
| |
| 1 | g.216246770G>T | CA344864394 | USH2A | c.2624C>A (p.Thr875Lys)
| COSMIC COSMIC COSMIC |
| 1 | g.216246771T>A | CA344864397 | USH2A | c.2623A>T (p.Thr875Ser)
| |
| 1 | g.216246771T>C | CA344864398 | USH2A | c.2623A>G (p.Thr875Ala)
| |
| 1 | g.216246771T>G | CA344864399 | USH2A | c.2623A>C (p.Thr875Pro)
| |
| 1 | g.216246772T>A | CA37501176 | USH2A | c.2622A>T (p.Val874=)
| dbSNP |
| 1 | g.216246772T>C | CA423322821 | USH2A | c.2622A>G (p.Val874=)
| |
| 1 | g.216246772T>G | CA423322822 | USH2A | c.2622A>C (p.Val874=)
| |
| 1 | g.216246772T= | CA1220619115 | USH2A | c.2622A= (p.Val874=)
| |
| 1 | g.216246773A= | CA1220619116 | USH2A | c.2621T= (p.Val874=)
| |
| 1 | g.216246773A>C | CA344864400 | USH2A | c.2621T>G (p.Val874Gly)
| |
| 1 | g.216246773A>G | CA344864401 | USH2A | c.2621T>C (p.Val874Ala)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246773A>T | CA344864402 | USH2A | c.2621T>A (p.Val874Glu)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216246774C>A | CA344864403 | USH2A | c.2620G>T (p.Val874Leu)
| gnomAD v4 |
| 1 | g.216246774C>G | CA344864404 | USH2A | c.2620G>C (p.Val874Leu)
| |
| 1 | g.216246774C>T | CA344864405 | USH2A | c.2620G>A (p.Val874Ile)
| |
| 1 | g.216246775C>A | CA423322823 | USH2A | c.2619G>T (p.Gly873=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216246775C= | CA1220619117 | USH2A | c.2619G= (p.Gly873=)
| |
| 1 | g.216246775C>G | CA423322824 | USH2A | c.2619G>C (p.Gly873=)
| |
| 1 | g.216246775C>T | CA1396200 | USH2A | c.2619G>A (p.Gly873=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246776C>A | CA344864406 | USH2A | c.2618G>T (p.Gly873Val)
| |
| 1 | g.216246776C>G | CA344864407 | USH2A | c.2618G>C (p.Gly873Ala)
| |
| 1 | g.216246776C>T | CA344864408 | USH2A | c.2618G>A (p.Gly873Glu)
| |
| 1 | g.216246777C>A | CA344864409 | USH2A | c.2617G>T (p.Gly873Trp)
| |
| 1 | g.216246777C= | CA1220619119 | USH2A | c.2617G= (p.Gly873=)
| |
| 1 | g.216246777C>G | CA344864410 | USH2A | c.2617G>C (p.Gly873Arg)
| |
| 1 | g.216246777C>T | CA37501180 | USH2A | c.2617G>A (p.Gly873Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246777_216246778del | CA913072828 | USH2A | c.2616_2617del (p.Val874AsnfsTer6)
| |
| 1 | g.216246777_216246778delinsCT | CA1220619118 | USH2A | c.2616_2617delinsAG (p.Leu872=)
| |
| 1 | g.216246778del | CA658823242 | USH2A | c.2616del (p.Val874Ter)
| ClinVar dbSNP |
| 1 | g.216246778T>A | CA344864411 | USH2A | c.2616A>T (p.Leu872Phe)
| |
| 1 | g.216246778T>C | CA423322825 | USH2A | c.2616A>G (p.Leu872=)
| |
| 1 | g.216246778T>G | CA344864412 | USH2A | c.2616A>C (p.Leu872Phe)
| |
| 1 | g.216246779A>C | CA344864413 | USH2A | c.2615T>G (p.Leu872Ter)
| |
| 1 | g.216246779A>G | CA344864414 | USH2A | c.2615T>C (p.Leu872Ser)
| |
| 1 | g.216246779A>T | CA344864415 | USH2A | c.2615T>A (p.Leu872Ter)
| |
| 1 | g.216246780A>C | CA344864416 | USH2A | c.2614T>G (p.Leu872Val)
| |
| 1 | g.216246780A>G | CA423322826 | USH2A | c.2614T>C (p.Leu872=)
| |
| 1 | g.216246780A>T | CA344864417 | USH2A | c.2614T>A (p.Leu872Ile)
| |
| 1 | g.216246781T>A | CA344864418 | USH2A | c.2613A>T (p.Lys871Asn)
| |
| 1 | g.216246781T>C | CA423322827 | USH2A | c.2613A>G (p.Lys871=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246781T>G | CA344864419 | USH2A | c.2613A>C (p.Lys871Asn)
| |
| 1 | g.216246781T= | CA1220619120 | USH2A | c.2613A= (p.Lys871=)
| |
| 1 | g.216246782T>A | CA344864420 | USH2A | c.2612A>T (p.Lys871Ile)
| |
| 1 | g.216246782T>C | CA344864421 | USH2A | c.2612A>G (p.Lys871Arg)
| |
| 1 | g.216246782T>G | CA344864422 | USH2A | c.2612A>C (p.Lys871Thr)
| |
| 1 | g.216246783T>A | CA344864425 | USH2A | c.2611A>T (p.Lys871Ter)
| |
| 1 | g.216246783T>C | CA344864423 | USH2A | c.2611A>G (p.Lys871Glu)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246783T>G | CA344864424 | USH2A | c.2611A>C (p.Lys871Gln)
| |
| 1 | g.216246783T= | CA1220619121 | USH2A | c.2611A= (p.Lys871=)
| |
| 1 | g.216246784G>A | CA423322828 | USH2A | c.2610C>T (p.Cys870=)
| |
| 1 | g.216246784G>C | CA1396202 | USH2A | c.2610C>G (p.Cys870Trp)
| dbSNP ExAC gnomAD v4 |
| 1 | g.216246784G= | CA1220619122 | USH2A | c.2610C= (p.Cys870=)
| |
| 1 | g.216246784G>T | CA1396201 | USH2A | c.2610C>A (p.Cys870Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246785C>A | CA1396203 | USH2A | c.2609G>T (p.Cys870Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246785C= | CA1220619123 | USH2A | c.2609G= (p.Cys870=)
| |
| 1 | g.216246785C>G | CA344864426 | USH2A | c.2609G>C (p.Cys870Ser)
| |
| 1 | g.216246785C>T | CA344864427 | USH2A | c.2609G>A (p.Cys870Tyr)
| gnomAD v4 |
| 1 | g.216246786A= | CA1220619124 | USH2A | c.2608T= (p.Cys870=)
| |
| 1 | g.216246786A>C | CA344864428 | USH2A | c.2608T>G (p.Cys870Gly)
| dbSNP |
| 1 | g.216246786A>G | CA344864429 | USH2A | c.2608T>C (p.Cys870Arg)
| |
| 1 | g.216246786A>T | CA344864430 | USH2A | c.2608T>A (p.Cys870Ser)
| |
| 1 | g.216246787A>C | CA423431583 | USH2A | c.2607T>G (p.Pro869=)
| |
| 1 | g.216246787A>G | CA423431584 | USH2A | c.2607T>C (p.Pro869=)
| |
| 1 | g.216246787A>T | CA423431586 | USH2A | c.2607T>A (p.Pro869=)
| |
| 1 | g.216246788G>A | CA344864431 | USH2A | c.2606C>T (p.Pro869Leu)
| dbSNP gnomAD v4 |
| 1 | g.216246788G>C | CA344864432 | USH2A | c.2606C>G (p.Pro869Arg)
| |
| 1 | g.216246788G= | CA1220619125 | USH2A | c.2606C= (p.Pro869=)
| |
| 1 | g.216246788G>T | CA344864433 | USH2A | c.2606C>A (p.Pro869His)
| dbSNP |
| 1 | g.216246789G>A | CA344864436 | USH2A | c.2605C>T (p.Pro869Ser)
| dbSNP COSMIC |
| 1 | g.216246789G>C | CA344864435 | USH2A | c.2605C>G (p.Pro869Ala)
| |
| 1 | g.216246789G= | CA1220619126 | USH2A | c.2605C= (p.Pro869=)
| |
| 1 | g.216246789G>T | CA344864434 | USH2A | c.2605C>A (p.Pro869Thr)
| |
| 1 | g.216246790A>C | CA344864437 | USH2A | c.2604T>G (p.Cys868Trp)
| |
| 1 | g.216246790A>G | CA423431601 | USH2A | c.2604T>C (p.Cys868=)
| gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216246790A>T | CA344864438 | USH2A | c.2604T>A (p.Cys868Ter)
| |
| 1 | g.216246791C>A | CA344864439 | USH2A | c.2603G>T (p.Cys868Phe)
| |
| 1 | g.216246791C>G | CA344864441 | USH2A | c.2603G>C (p.Cys868Ser)
| |
| 1 | g.216246791C>T | CA344864440 | USH2A | c.2603G>A (p.Cys868Tyr)
| COSMIC COSMIC COSMIC |
| 1 | g.216246792A>C | CA344864442 | USH2A | c.2602T>G (p.Cys868Gly)
| gnomAD v4 |
| 1 | g.216246792A>G | CA344864443 | USH2A | c.2602T>C (p.Cys868Arg)
| gnomAD v4 |
| 1 | g.216246792A>T | CA344864444 | USH2A | c.2602T>A (p.Cys868Ser)
| |
| 1 | g.216246793T>A | CA344864445 | USH2A | c.2601A>T (p.Gln867His)
| |
| 1 | g.216246793T>C | CA423431604 | USH2A | c.2601A>G (p.Gln867=)
| ClinVar gnomAD v4 |
| 1 | g.216246793T>G | CA344864446 | USH2A | c.2601A>C (p.Gln867His)
| |
| 1 | g.216246794T>A | CA344864447 | USH2A | c.2600A>T (p.Gln867Leu)
| |
| 1 | g.216246794T>C | CA344864448 | USH2A | c.2600A>G (p.Gln867Arg)
| |
| 1 | g.216246794T>G | CA344864449 | USH2A | c.2600A>C (p.Gln867Pro)
| dbSNP gnomAD v4 |
| 1 | g.216246794T= | CA1220619127 | USH2A | c.2600A= (p.Gln867=)
| |
| 1 | g.216246795G>A | CA344864450 | USH2A | c.2599C>T (p.Gln867Ter)
| ClinVar dbSNP |
| 1 | g.216246795G>C | CA344864451 | USH2A | c.2599C>G (p.Gln867Glu)
| |
| 1 | g.216246795G= | CA1220619128 | USH2A | c.2599C= (p.Gln867=)
| |
| 1 | g.216246795G>T | CA344864452 | USH2A | c.2599C>A (p.Gln867Lys)
| |
| 1 | g.216246796T>A | CA423431617 | USH2A | c.2598A>T (p.Gly866=)
| |
| 1 | g.216246796T>C | CA423431621 | USH2A | c.2598A>G (p.Gly866=)
| |
| 1 | g.216246796T>G | CA423431619 | USH2A | c.2598A>C (p.Gly866=)
| |
| 1 | g.216246797C>A | CA344864455 | USH2A | c.2597G>T (p.Gly866Val)
| |
| 1 | g.216246797C>G | CA344864454 | USH2A | c.2597G>C (p.Gly866Ala)
| |
| 1 | g.216246797C>T | CA344864453 | USH2A | c.2597G>A (p.Gly866Glu)
| gnomAD v4 |
| 1 | g.216246798C>A | CA344864456 | USH2A | c.2596G>T (p.Gly866Ter)
| |
| 1 | g.216246798C>G | CA344864457 | USH2A | c.2596G>C (p.Gly866Arg)
| |
| 1 | g.216246798C>T | CA344864458 | USH2A | c.2596G>A (p.Gly866Arg)
| |
| 1 | g.216246799T>A | CA423431627 | USH2A | c.2595A>T (p.Thr865=)
| |
| 1 | g.216246799T>C | CA423431628 | USH2A | c.2595A>G (p.Thr865=)
| |
| 1 | g.216246799T>G | CA423431629 | USH2A | c.2595A>C (p.Thr865=)
| |
| 1 | g.216246800G>A | CA344864459 | USH2A | c.2594C>T (p.Thr865Ile)
| dbSNP gnomAD v4 |
| 1 | g.216246800G>C | CA344864460 | USH2A | c.2594C>G (p.Thr865Arg)
| |
| 1 | g.216246800G= | CA1220619129 | USH2A | c.2594C= (p.Thr865=)
| |
| 1 | g.216246800G>T | CA344864461 | USH2A | c.2594C>A (p.Thr865Lys)
| gnomAD v4 |
| 1 | g.216246801T>A | CA344864462 | USH2A | c.2593A>T (p.Thr865Ser)
| |
| 1 | g.216246801T>C | CA344864463 | USH2A | c.2593A>G (p.Thr865Ala)
| |
| 1 | g.216246801T>G | CA344864464 | USH2A | c.2593A>C (p.Thr865Pro)
| |
| 1 | g.216246802T>A | CA423431637 | USH2A | c.2592A>T (p.Ser864=)
| |
| 1 | g.216246802T>C | CA423431639 | USH2A | c.2592A>G (p.Ser864=)
| ClinVar |
| 1 | g.216246802T>G | CA423431641 | USH2A | c.2592A>C (p.Ser864=)
| |
| 1 | g.216246803G>A | CA344864465 | USH2A | c.2591C>T (p.Ser864Leu)
| |
| 1 | g.216246803G>C | CA344864466 | USH2A | c.2591C>G (p.Ser864Ter)
| |
| 1 | g.216246803G>T | CA344864467 | USH2A | c.2591C>A (p.Ser864Ter)
| |
| 1 | g.216246804A>C | CA344864470 | USH2A | c.2590T>G (p.Ser864Ala)
| |
| 1 | g.216246804A>G | CA344864469 | USH2A | c.2590T>C (p.Ser864Pro)
| gnomAD v4 |
| 1 | g.216246804A>T | CA344864468 | USH2A | c.2590T>A (p.Ser864Thr)
| |
| 1 | g.216246805T>A | CA344864471 | USH2A | c.2589A>T (p.Lys863Asn)
| gnomAD v4 |
| 1 | g.216246805T>C | CA1396204 | USH2A | c.2589A>G (p.Lys863=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246805T>G | CA344864472 | USH2A | c.2589A>C (p.Lys863Asn)
| |
| 1 | g.216246805T= | CA1220619130 | USH2A | c.2589A= (p.Lys863=)
| |
| 1 | g.216246806T>A | CA344864473 | USH2A | c.2588A>T (p.Lys863Ile)
| |
| 1 | g.216246806T>C | CA1396205 | USH2A | c.2588A>G (p.Lys863Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216246806T>G | CA344864474 | USH2A | c.2588A>C (p.Lys863Thr)
| |
| 1 | g.216246806T= | CA1220619131 | USH2A | c.2588A= (p.Lys863=)
| |
| 1 | g.216246807T>A | CA344864477 | USH2A | c.2587A>T (p.Lys863Ter)
| |
| 1 | g.216246807T>C | CA344864475 | USH2A | c.2587A>G (p.Lys863Glu)
| |
| 1 | g.216246807T>G | CA344864476 | USH2A | c.2587A>C (p.Lys863Gln)
| |
| 1 | g.216246808G>A | CA423431657 | USH2A | c.2586C>T (p.Asn862=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246808G>C | CA344864478 | USH2A | c.2586C>G (p.Asn862Lys)
| |
| 1 | g.216246808G= | CA1220619132 | USH2A | c.2586C= (p.Asn862=)
| |
| 1 | g.216246808G>T | CA344864479 | USH2A | c.2586C>A (p.Asn862Lys)
| gnomAD v4 |
| 1 | g.216246809T>A | CA344864480 | USH2A | c.2585A>T (p.Asn862Ile)
| |
| 1 | g.216246809T>C | CA1396206 | USH2A | c.2585A>G (p.Asn862Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246809T>G | CA344864481 | USH2A | c.2585A>C (p.Asn862Thr)
| COSMIC |
| 1 | g.216246809T= | CA1220619133 | USH2A | c.2585A= (p.Asn862=)
| |
