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.215878787G>A | CA423430183 | USH2A | c.8535C>T (p.Ser2845=) | gnomAD v4 |
| 1 | g.215878787G>C | CA423430184 | USH2A | c.8535C>G (p.Ser2845=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215878787G>T | CA423430185 | USH2A | c.8535C>A (p.Ser2845=) | |
| 1 | g.215878788G>A | CA344830258 | USH2A | c.8534C>T (p.Ser2845Phe) | gnomAD v4 |
| 1 | g.215878788G>C | CA344830260 | USH2A | c.8534C>G (p.Ser2845Cys) | |
| 1 | g.215878788G>T | CA344830267 | USH2A | c.8534C>A (p.Ser2845Tyr) | |
| 1 | g.215878789A>C | CA344830272 | USH2A | c.8533T>G (p.Ser2845Ala) | |
| 1 | g.215878789A>G | CA344830273 | USH2A | c.8533T>C (p.Ser2845Pro) | |
| 1 | g.215878789A>T | CA344830276 | USH2A | c.8533T>A (p.Ser2845Thr) | |
| 1 | g.215878790T>A | CA423430188 | USH2A | c.8532A>T (p.Pro2844=) | ClinVar dbSNP gnomAD v2 |
| 1 | g.215878790T>C | CA423430189 | USH2A | c.8532A>G (p.Pro2844=) | gnomAD v4 |
| 1 | g.215878790T>G | CA423430190 | USH2A | c.8532A>C (p.Pro2844=) | |
| 1 | g.215878790T= | CA1220461527 | USH2A | c.8532A= (p.Pro2844=) | |
| 1 | g.215878791G>A | CA344830283 | USH2A | c.8531C>T (p.Pro2844Leu) | |
| 1 | g.215878791G>C | CA344830278 | USH2A | c.8531C>G (p.Pro2844Arg) | COSMIC COSMIC |
| 1 | g.215878791G>T | CA344830281 | USH2A | c.8531C>A (p.Pro2844Gln) | |
| 1 | g.215878792G>A | CA344830292 | USH2A | c.8530C>T (p.Pro2844Ser) | gnomAD v4 |
| 1 | g.215878792G>C | CA344830293 | USH2A | c.8530C>G (p.Pro2844Ala) | |
| 1 | g.215878792G= | CA1220461530 | USH2A | c.8530C= (p.Pro2844=) | |
| 1 | g.215878792G>T | CA344830295 | USH2A | c.8530C>A (p.Pro2844Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215878793T>A | CA423430192 | USH2A | c.8529A>T (p.Pro2843=) | |
| 1 | g.215878793T>C | CA423430194 | USH2A | c.8529A>G (p.Pro2843=) | |
| 1 | g.215878793T>G | CA423430195 | USH2A | c.8529A>C (p.Pro2843=) | |
| 1 | g.215878794G>A | CA344830300 | USH2A | c.8528C>T (p.Pro2843Leu) | dbSNP gnomAD v4 |
| 1 | g.215878794G>C | CA344830302 | USH2A | c.8528C>G (p.Pro2843Arg) | |
| 1 | g.215878794G= | CA1220461535 | USH2A | c.8528C= (p.Pro2843=) | |
| 1 | g.215878794G>T | CA344830304 | USH2A | c.8528C>A (p.Pro2843Gln) | |
| 1 | g.215878795G>A | CA344830311 | USH2A | c.8527C>T (p.Pro2843Ser) | |
| 1 | g.215878795G>C | CA344830313 | USH2A | c.8527C>G (p.Pro2843Ala) | |
| 1 | g.215878795G>T | CA344830318 | USH2A | c.8527C>A (p.Pro2843Thr) | |
| 1 | g.215878796T>A | CA344830320 | USH2A | c.8526A>T (p.Gln2842His) | |
| 1 | g.215878796T>C | CA423430198 | USH2A | c.8526A>G (p.Gln2842=) | |
| 1 | g.215878796T>G | CA344830322 | USH2A | c.8526A>C (p.Gln2842His) | |
| 1 | g.215878797T>A | CA344830330 | USH2A | c.8525A>T (p.Gln2842Leu) | gnomAD v4 |
| 1 | g.215878797T>C | CA344830333 | USH2A | c.8525A>G (p.Gln2842Arg) | |
| 1 | g.215878797T>G | CA344830328 | USH2A | c.8525A>C (p.Gln2842Pro) | |
| 1 | g.215878798G>A | CA344830336 | USH2A | c.8524C>T (p.Gln2842Ter) | |
| 1 | g.215878798G>C | CA344830338 | USH2A | c.8524C>G (p.Gln2842Glu) | |
| 1 | g.215878798G>T | CA344830339 | USH2A | c.8524C>A (p.Gln2842Lys) | |
| 1 | g.215878799C>A | CA344830341 | USH2A | c.8523G>T (p.Trp2841Cys) | |
| 1 | g.215878799C>G | CA344830343 | USH2A | c.8523G>C (p.Trp2841Cys) | gnomAD v4 |
| 1 | g.215878799C>T | CA344830345 | USH2A | c.8523G>A (p.Trp2841Ter) | |
| 1 | g.215878800C>A | CA344830347 | USH2A | c.8522G>T (p.Trp2841Leu) | |
| 1 | g.215878800C= | CA1220461538 | USH2A | c.8522G= (p.Trp2841=) | |
| 1 | g.215878800C>G | CA344830351 | USH2A | c.8522G>C (p.Trp2841Ser) | |
| 1 | g.215878800C>T | CA16621590 | USH2A | c.8522G>A (p.Trp2841Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215878801A>C | CA344830353 | USH2A | c.8521T>G (p.Trp2841Gly) | gnomAD v4 |
| 1 | g.215878801A>G | CA344830354 | USH2A | c.8521T>C (p.Trp2841Arg) | |
| 1 | g.215878801A>T | CA344830355 | USH2A | c.8521T>A (p.Trp2841Arg) | |
| 1 | g.215878802A>C | CA423430208 | USH2A | c.8520T>G (p.Ser2840=) | gnomAD v4 |
| 1 | g.215878802A>G | CA423430209 | USH2A | c.8520T>C (p.Ser2840=) | |
| 1 | g.215878802A>T | CA423430210 | USH2A | c.8520T>A (p.Ser2840=) | |
| 1 | g.215878803G>A | CA344830357 | USH2A | c.8519C>T (p.Ser2840Phe) | |
| 1 | g.215878803G>C | CA344830358 | USH2A | c.8519C>G (p.Ser2840Cys) | |
| 1 | g.215878803G>T | CA344830356 | USH2A | c.8519C>A (p.Ser2840Tyr) | |
| 1 | g.215878804A>C | CA344830360 | USH2A | c.8518T>G (p.Ser2840Ala) | |
| 1 | g.215878804A>G | CA344830362 | USH2A | c.8518T>C (p.Ser2840Pro) | |
| 1 | g.215878804A>T | CA344830363 | USH2A | c.8518T>A (p.Ser2840Thr) | |
| 1 | g.215878805A>C | CA344830375 | USH2A | c.8517T>G (p.Ile2839Met) | |
| 1 | g.215878805A>G | CA423430215 | USH2A | c.8517T>C (p.Ile2839=) | |
| 1 | g.215878805A>T | CA423430216 | USH2A | c.8517T>A (p.Ile2839=) | |
| 1 | g.215878806A>C | CA344830387 | USH2A | c.8516T>G (p.Ile2839Ser) | |
| 1 | g.215878806A>G | CA344830385 | USH2A | c.8516T>C (p.Ile2839Thr) | |
| 1 | g.215878806A>T | CA344830378 | USH2A | c.8516T>A (p.Ile2839Asn) | |
| 1 | g.215878807T>A | CA344830389 | USH2A | c.8515A>T (p.Ile2839Phe) | |
| 1 | g.215878807T>C | CA344830390 | USH2A | c.8515A>G (p.Ile2839Val) | |
| 1 | g.215878807T>G | CA344830391 | USH2A | c.8515A>C (p.Ile2839Leu) | |
| 1 | g.215878808C>A | CA423430221 | USH2A | c.8514G>T (p.Val2838=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215878808C= | CA1220461541 | USH2A | c.8514G= (p.Val2838=) | |
| 1 | g.215878808C>G | CA423430222 | USH2A | c.8514G>C (p.Val2838=) | dbSNP |
| 1 | g.215878808C>T | CA423430223 | USH2A | c.8514G>A (p.Val2838=) | |
| 1 | g.215878809A>C | CA344830392 | USH2A | c.8513T>G (p.Val2838Gly) | |
| 1 | g.215878809A>G | CA344830393 | USH2A | c.8513T>C (p.Val2838Ala) | gnomAD v4 |
| 1 | g.215878809A>T | CA344830395 | USH2A | c.8513T>A (p.Val2838Glu) | |
| 1 | g.215878810C>A | CA344830403 | USH2A | c.8512G>T (p.Val2838Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215878810C= | CA1220461543 | USH2A | c.8512G= (p.Val2838=) | |
| 1 | g.215878810C>G | CA344830400 | USH2A | c.8512G>C (p.Val2838Leu) | |
| 1 | g.215878810C>T | CA344830397 | USH2A | c.8512G>A (p.Val2838Met) | gnomAD v4 |
| 1 | g.215878811A>C | CA423430229 | USH2A | c.8511T>G (p.Val2837=) | |
| 1 | g.215878811A>G | CA423430230 | USH2A | c.8511T>C (p.Val2837=) | |
| 1 | g.215878811A>T | CA423430231 | USH2A | c.8511T>A (p.Val2837=) | |
| 1 | g.215878812A>C | CA344830407 | USH2A | c.8510T>G (p.Val2837Gly) | |
| 1 | g.215878812A>G | CA344830411 | USH2A | c.8510T>C (p.Val2837Ala) | |
| 1 | g.215878812A>T | CA344830409 | USH2A | c.8510T>A (p.Val2837Asp) | COSMIC COSMIC |
| 1 | g.215878813C>A | CA344830416 | USH2A | c.8509G>T (p.Val2837Phe) | |
| 1 | g.215878813C>G | CA344830418 | USH2A | c.8509G>C (p.Val2837Leu) | |
| 1 | g.215878813C>T | CA344830421 | USH2A | c.8509G>A (p.Val2837Ile) | |
| 1 | g.215878814A>C | CA344830424 | USH2A | c.8508T>G (p.Tyr2836Ter) | |
| 1 | g.215878814A>G | CA423430233 | USH2A | c.8508T>C (p.Tyr2836=) | gnomAD v4 |
| 1 | g.215878814A>T | CA344830426 | USH2A | c.8508T>A (p.Tyr2836Ter) | |
| 1 | g.215878815T>A | CA344830431 | USH2A | c.8507A>T (p.Tyr2836Phe) | |
| 1 | g.215878815T>C | CA1394595 | USH2A | c.8507A>G (p.Tyr2836Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215878815T>G | CA344830436 | USH2A | c.8507A>C (p.Tyr2836Ser) | |
| 1 | g.215878815T= | CA1220461545 | USH2A | c.8507A= (p.Tyr2836=) | |
| 1 | g.215878816A= | CA1220461546 | USH2A | c.8506T= (p.Tyr2836=) | |
| 1 | g.215878816A>C | CA344830441 | USH2A | c.8506T>G (p.Tyr2836Asp) | |
| 1 | g.215878816A>G | CA1394596 | USH2A | c.8506T>C (p.Tyr2836His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215878816A>T | CA344830443 | USH2A | c.8506T>A (p.Tyr2836Asn) | |
| 1 | g.215878817T>A | CA423430236 | USH2A | c.8505A>T (p.Ser2835=) | ClinVar |
| 1 | g.215878817T>C | CA423430237 | USH2A | c.8505A>G (p.Ser2835=) | gnomAD v4 |
| 1 | g.215878817T>G | CA423430238 | USH2A | c.8505A>C (p.Ser2835=) | |
| 1 | g.215878818G>A | CA344830459 | USH2A | c.8504C>T (p.Ser2835Leu) | |
| 1 | g.215878818G>C | CA344830447 | USH2A | c.8504C>G (p.Ser2835Ter) | |
| 1 | g.215878818G>T | CA344830445 | USH2A | c.8504C>A (p.Ser2835Ter) | |
| 1 | g.215878819A>C | CA344830463 | USH2A | c.8503T>G (p.Ser2835Ala) | |
| 1 | g.215878819A>G | CA344830465 | USH2A | c.8503T>C (p.Ser2835Pro) | |
| 1 | g.215878819A>T | CA344830467 | USH2A | c.8503T>A (p.Ser2835Thr) | |
| 1 | g.215878820T>A | CA344830474 | USH2A | c.8502A>T (p.Glu2834Asp) | |
| 1 | g.215878820T>C | CA1394597 | USH2A | c.8502A>G (p.Glu2834=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215878820T>G | CA344830475 | USH2A | c.8502A>C (p.Glu2834Asp) | |
| 1 | g.215878820T= | CA1220461547 | USH2A | c.8502A= (p.Glu2834=) | |
| 1 | g.215878821T>A | CA344830478 | USH2A | c.8501A>T (p.Glu2834Val) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215878821T>C | CA344830480 | USH2A | c.8501A>G (p.Glu2834Gly) | dbSNP gnomAD v2 |
| 1 | g.215878821T>G | CA344830484 | USH2A | c.8501A>C (p.Glu2834Ala) | |
| 1 | g.215878821T= | CA1220461549 | USH2A | c.8501A= (p.Glu2834=) | |
| 1 | g.215878822C>A | CA344830487 | USH2A | c.8500G>T (p.Glu2834Ter) | ClinVar |
| 1 | g.215878822C>G | CA344830488 | USH2A | c.8500G>C (p.Glu2834Gln) | |
| 1 | g.215878822C>T | CA344830489 | USH2A | c.8500G>A (p.Glu2834Lys) | |
| 1 | g.215878823A= | CA1220461551 | USH2A | c.8499T= (p.Ser2833=) | |
| 1 | g.215878823A>C | CA344830500 | USH2A | c.8499T>G (p.Ser2833Arg) | |
| 1 | g.215878823A>G | CA1394598 | USH2A | c.8499T>C (p.Ser2833=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215878823A>T | CA344830495 | USH2A | c.8499T>A (p.Ser2833Arg) | |
| 1 | g.215878824C>A | CA344830505 | USH2A | c.8498G>T (p.Ser2833Ile) | |
| 1 | g.215878824C= | CA1220461557 | USH2A | c.8498G= (p.Ser2833=) | |
| 1 | g.215878824C>G | CA344830501 | USH2A | c.8498G>C (p.Ser2833Thr) | |
| 1 | g.215878824C>T | CA344830502 | USH2A | c.8498G>A (p.Ser2833Asn) | |
| 1 | g.215878825T>A | CA344830510 | USH2A | c.8497A>T (p.Ser2833Cys) | |
| 1 | g.215878825T>C | CA344830514 | USH2A | c.8497A>G (p.Ser2833Gly) | |
| 1 | g.215878825T>G | CA344830516 | USH2A | c.8497A>C (p.Ser2833Arg) | |
| 1 | g.215878826dup | CA2586968209 | USH2A | c.8497dup (p.Ser2833LysfsTer2) | |
| 1 | g.215878825_215878826dup | CA529002425 | USH2A | c.8496_8497dup (p.Ser2833LysfsTer7) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215878826T>A | CA423430243 | USH2A | c.8496A>T (p.Leu2832=) | |
| 1 | g.215878826T>C | CA423430245 | USH2A | c.8496A>G (p.Leu2832=) | |
| 1 | g.215878826T>G | CA423430244 | USH2A | c.8496A>C (p.Leu2832=) | |
| 1 | g.215878827A>C | CA344830518 | USH2A | c.8495T>G (p.Leu2832Arg) | |
| 1 | g.215878827A>G | CA344830520 | USH2A | c.8495T>C (p.Leu2832Pro) | ClinVar |
| 1 | g.215878827A>T | CA344830522 | USH2A | c.8495T>A (p.Leu2832Gln) | COSMIC COSMIC |
| 1 | g.215878828G>A | CA423430246 | USH2A | c.8494C>T (p.Leu2832=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215878828G>C | CA344830525 | USH2A | c.8494C>G (p.Leu2832Val) | |
| 1 | g.215878828G= | CA1220461562 | USH2A | c.8494C= (p.Leu2832=) | |
| 1 | g.215878828G>T | CA344830528 | USH2A | c.8494C>A (p.Leu2832Ile) | gnomAD v4 |
| 1 | g.215878829T>A | CA423430248 | USH2A | c.8493A>T (p.Pro2831=) | |
| 1 | g.215878829T>C | CA423430249 | USH2A | c.8493A>G (p.Pro2831=) | |
| 1 | g.215878829T>G | CA423430250 | USH2A | c.8493A>C (p.Pro2831=) | |
| 1 | g.215878830G>A | CA344830533 | USH2A | c.8492C>T (p.Pro2831Leu) | |
| 1 | g.215878830G>C | CA344830537 | USH2A | c.8492C>G (p.Pro2831Arg) | |
| 1 | g.215878830G>T | CA344830538 | USH2A | c.8492C>A (p.Pro2831Gln) | |
| 1 | g.215878831G>A | CA344830543 | USH2A | c.8491C>T (p.Pro2831Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215878831G>C | CA344830539 | USH2A | c.8491C>G (p.Pro2831Ala) | |
| 1 | g.215878831G= | CA1220461564 | USH2A | c.8491C= (p.Pro2831=) | |
| 1 | g.215878831G>T | CA344830541 | USH2A | c.8491C>A (p.Pro2831Thr) | |
| 1 | g.215878832A>C | CA344830544 | USH2A | c.8490T>G (p.Ile2830Met) | |
| 1 | g.215878832A>G | CA423430252 | USH2A | c.8490T>C (p.Ile2830=) | |
| 1 | g.215878832A>T | CA423430253 | USH2A | c.8490T>A (p.Ile2830=) | |
| 1 | g.215878833A>C | CA344830545 | USH2A | c.8489T>G (p.Ile2830Ser) | |
| 1 | g.215878833A>G | CA344830548 | USH2A | c.8489T>C (p.Ile2830Thr) | COSMIC COSMIC |
| 1 | g.215878833A>T | CA344830550 | USH2A | c.8489T>A (p.Ile2830Asn) | |
| 1 | g.215878834T>A | CA344830557 | USH2A | c.8488A>T (p.Ile2830Phe) | COSMIC COSMIC |
| 1 | g.215878834T>C | CA344830566 | USH2A | c.8488A>G (p.Ile2830Val) | dbSNP |
| 1 | g.215878834T>G | CA344830570 | USH2A | c.8488A>C (p.Ile2830Leu) | |
| 1 | g.215878834T= | CA1220461568 | USH2A | c.8488A= (p.Ile2830=) | |
| 1 | g.215878835C>A | CA423430255 | USH2A | c.8487G>T (p.Val2829=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215878835C= | CA1220461570 | USH2A | c.8487G= (p.Val2829=) | |
| 1 | g.215878835C>G | CA423430256 | USH2A | c.8487G>C (p.Val2829=) | |
| 1 | g.215878835C>T | CA423430257 | USH2A | c.8487G>A (p.Val2829=) | |
| 1 | g.215878835_215878839delinsCACAG | CA1220461571 | USH2A | c.8483_8487delinsCTGTG (p.Ser2828=) | |
| 1 | g.215878836A= | CA1220461576 | USH2A | c.8486T= (p.Val2829=) | |
| 1 | g.215878836A>C | CA344830573 | USH2A | c.8486T>G (p.Val2829Gly) | |
| 1 | g.215878836A>G | CA1394599 | USH2A | c.8486T>C (p.Val2829Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215878836A>T | CA344830579 | USH2A | c.8486T>A (p.Val2829Glu) | |
| 1 | g.215878839_215878842del | CA529002426 | USH2A | c.8483_8486del (p.Ser2828Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215878837C>A | CA344830582 | USH2A | c.8485G>T (p.Val2829Leu) | dbSNP COSMIC |
| 1 | g.215878837C= | CA1220461580 | USH2A | c.8485G= (p.Val2829=) | |
| 1 | g.215878837C>G | CA344830587 | USH2A | c.8485G>C (p.Val2829Leu) | |
| 1 | g.215878837C>T | CA344830590 | USH2A | c.8485G>A (p.Val2829Met) | |
| 1 | g.215878838A>C | CA423430262 | USH2A | c.8484T>G (p.Ser2828=) | |
| 1 | g.215878838A>G | CA423430263 | USH2A | c.8484T>C (p.Ser2828=) | |
| 1 | g.215878838A>T | CA423430264 | USH2A | c.8484T>A (p.Ser2828=) | |
| 1 | g.215878839del | CA2586968210 | USH2A | c.8483del (p.Ser2828LeufsTer2) | |
| 1 | g.215878839G>A | CA344830599 | USH2A | c.8483C>T (p.Ser2828Phe) | |
| 1 | g.215878839G>C | CA344830596 | USH2A | c.8483C>G (p.Ser2828Cys) | |
| 1 | g.215878839G>T | CA344830593 | USH2A | c.8483C>A (p.Ser2828Tyr) | |
| 1 | g.215878840del | CA2499214477 | USH2A | c.8482del (p.Ser2828LeufsTer2) | ClinVar dbSNP |
| 1 | g.215878840A>C | CA344830602 | USH2A | c.8482T>G (p.Ser2828Ala) | |
| 1 | g.215878840A>G | CA344830606 | USH2A | c.8482T>C (p.Ser2828Pro) | |
| 1 | g.215878840A>T | CA344830605 | USH2A | c.8482T>A (p.Ser2828Thr) | |
| 1 | g.215878841C>A | CA1394600 | USH2A | c.8481G>T (p.Leu2827Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215878841C= | CA1220461581 | USH2A | c.8481G= (p.Leu2827=) | |
| 1 | g.215878841C>G | CA344830607 | USH2A | c.8481G>C (p.Leu2827Phe) | |
| 1 | g.215878841C>T | CA423430266 | USH2A | c.8481G>A (p.Leu2827=) | |
| 1 | g.215878842A>C | CA344830609 | USH2A | c.8480T>G (p.Leu2827Trp) | |
| 1 | g.215878842A>G | CA344830610 | USH2A | c.8480T>C (p.Leu2827Ser) | gnomAD v4 |
| 1 | g.215878842A>T | CA344830612 | USH2A | c.8480T>A (p.Leu2827Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215878843A>C | CA344830616 | USH2A | c.8479T>G (p.Leu2827Val) | |
| 1 | g.215878843A>G | CA423430268 | USH2A | c.8479T>C (p.Leu2827=) | |
| 1 | g.215878843A>T | CA344830619 | USH2A | c.8479T>A (p.Leu2827Met) | |
| 1 | g.215878844T>A | CA423430269 | USH2A | c.8478A>T (p.Pro2826=) | |
| 1 | g.215878844T>C | CA423430270 | USH2A | c.8478A>G (p.Pro2826=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215878844T>G | CA423430271 | USH2A | c.8478A>C (p.Pro2826=) | |
| 1 | g.215878845G>A | CA344830623 | USH2A | c.8477C>T (p.Pro2826Leu) | |
| 1 | g.215878845G>C | CA344830624 | USH2A | c.8477C>G (p.Pro2826Arg) | |
| 1 | g.215878845G>T | CA344830627 | USH2A | c.8477C>A (p.Pro2826Gln) | |
| 1 | g.215878846G>A | CA344830630 | USH2A | c.8476C>T (p.Pro2826Ser) | gnomAD v4 |
| 1 | g.215878846G>C | CA344830633 | USH2A | c.8476C>G (p.Pro2826Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215878846G= | CA1220461585 | USH2A | c.8476C= (p.Pro2826=) | |
| 1 | g.215878846G>T | CA344830635 | USH2A | c.8476C>A (p.Pro2826Thr) | |
| 1 | g.215878847G>A | CA1394601 | USH2A | c.8475C>T (p.Gly2825=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215878847G>C | CA423430274 | USH2A | c.8475C>G (p.Gly2825=) | |
| 1 | g.215878847G= | CA1220461587 | USH2A | c.8475C= (p.Gly2825=) | |
| 1 | g.215878847G>T | CA423430273 | USH2A | c.8475C>A (p.Gly2825=) | |
| 1 | g.215878848C>A | CA344830641 | USH2A | c.8474G>T (p.Gly2825Val) | |
| 1 | g.215878848C>G | CA344830642 | USH2A | c.8474G>C (p.Gly2825Ala) | |
| 1 | g.215878848C>T | CA344830643 | USH2A | c.8474G>A (p.Gly2825Asp) | |
| 1 | g.215878849C>A | CA344830647 | USH2A | c.8473G>T (p.Gly2825Cys) | |
| 1 | g.215878849C>G | CA344830656 | USH2A | c.8473G>C (p.Gly2825Arg) | |
| 1 | g.215878849C>T | CA344830682 | USH2A | c.8473G>A (p.Gly2825Ser) | |
| 1 | g.215878850A= | CA1220461588 | USH2A | c.8472T= (p.Val2824=) | |
| 1 | g.215878850A>C | CA423430275 | USH2A | c.8472T>G (p.Val2824=) | |
| 1 | g.215878850A>G | CA423430276 | USH2A | c.8472T>C (p.Val2824=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215878850A>T | CA423430277 | USH2A | c.8472T>A (p.Val2824=) | |
| 1 | g.215878851A= | CA1220461589 | USH2A | c.8471T= (p.Val2824=) | |
| 1 | g.215878851A>C | CA344830687 | USH2A | c.8471T>G (p.Val2824Gly) | |
| 1 | g.215878851A>G | CA1394602 | USH2A | c.8471T>C (p.Val2824Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215878851A>T | CA344830689 | USH2A | c.8471T>A (p.Val2824Asp) | |
| 1 | g.215878852C>A | CA344830692 | USH2A | c.8470G>T (p.Val2824Phe) | COSMIC COSMIC |
| 1 | g.215878852C>G | CA344830709 | USH2A | c.8470G>C (p.Val2824Leu) | |
| 1 | g.215878852C>T | CA344830712 | USH2A | c.8470G>A (p.Val2824Ile) | |
| 1 | g.215878853A>C | CA344830715 | USH2A | c.8469T>G (p.Asn2823Lys) | |
| 1 | g.215878853A>G | CA423430280 | USH2A | c.8469T>C (p.Asn2823=) | |
| 1 | g.215878853A>T | CA344830717 | USH2A | c.8469T>A (p.Asn2823Lys) | |
| 1 | g.215878854T>A | CA344830723 | USH2A | c.8468A>T (p.Asn2823Ile) | |
| 1 | g.215878854T>C | CA344830731 | USH2A | c.8468A>G (p.Asn2823Ser) | |
| 1 | g.215878854T>G | CA344830729 | USH2A | c.8468A>C (p.Asn2823Thr) | |
| 1 | g.215878855T>A | CA344830734 | USH2A | c.8467A>T (p.Asn2823Tyr) | |
| 1 | g.215878855T>C | CA344830735 | USH2A | c.8467A>G (p.Asn2823Asp) | |
| 1 | g.215878855T>G | CA344830736 | USH2A | c.8467A>C (p.Asn2823His) | |
| 1 | g.215878856C>A | CA344830739 | USH2A | c.8466G>T (p.Gln2822His) | |
| 1 | g.215878856C>G | CA344830741 | USH2A | c.8466G>C (p.Gln2822His) | |
| 1 | g.215878856C>T | CA423430282 | USH2A | c.8466G>A (p.Gln2822=) | ClinVar dbSNP |
| 1 | g.215878857T>A | CA344830749 | USH2A | c.8465A>T (p.Gln2822Leu) | dbSNP gnomAD v4 |
| 1 | g.215878857T>C | CA344830746 | USH2A | c.8465A>G (p.Gln2822Arg) | |
| 1 | g.215878857T>G | CA344830745 | USH2A | c.8465A>C (p.Gln2822Pro) | |
| 1 | g.215878857T= | CA1220461593 | USH2A | c.8465A= (p.Gln2822=) | |
| 1 | g.215878858G>A | CA344830756 | USH2A | c.8464C>T (p.Gln2822Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215878858G>C | CA344830757 | USH2A | c.8464C>G (p.Gln2822Glu) | ClinVar dbSNP COSMIC COSMIC |
| 1 | g.215878858G= | CA1220461595 | USH2A | c.8464C= (p.Gln2822=) | |
| 1 | g.215878858G>T | CA344830758 | USH2A | c.8464C>A (p.Gln2822Lys) | |
| 1 | g.215878859A= | CA1220461597 | USH2A | c.8463T= (p.Pro2821=) | |
| 1 | g.215878859A>C | CA423430283 | USH2A | c.8463T>G (p.Pro2821=) | |
| 1 | g.215878859A>G | CA423430284 | USH2A | c.8463T>C (p.Pro2821=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215878859A>T | CA423430285 | USH2A | c.8463T>A (p.Pro2821=) | |
| 1 | g.215878860G>A | CA344830760 | USH2A | c.8462C>T (p.Pro2821Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215878860G>C | CA344830769 | USH2A | c.8462C>G (p.Pro2821Arg) | |
| 1 | g.215878860G= | CA1220461599 | USH2A | c.8462C= (p.Pro2821=) | |
| 1 | g.215878860G>T | CA344830778 | USH2A | c.8462C>A (p.Pro2821His) | |
| 1 | g.215878861G>A | CA344830783 | USH2A | c.8461C>T (p.Pro2821Ser) | gnomAD v4 |
| 1 | g.215878861G>C | CA344830785 | USH2A | c.8461C>G (p.Pro2821Ala) | |
| 1 | g.215878861G>T | CA344830784 | USH2A | c.8461C>A (p.Pro2821Thr) | |
| 1 | g.215878862T>A | CA423430288 | USH2A | c.8460A>T (p.Val2820=) | |
| 1 | g.215878862T>C | CA423430289 | USH2A | c.8460A>G (p.Val2820=) | |
| 1 | g.215878862T>G | CA423430290 | USH2A | c.8460A>C (p.Val2820=) | |
| 1 | g.215878863A>C | CA344830786 | USH2A | c.8459T>G (p.Val2820Gly) | |
| 1 | g.215878863A>G | CA344830790 | USH2A | c.8459T>C (p.Val2820Ala) | |
| 1 | g.215878863A>T | CA344830792 | USH2A | c.8459T>A (p.Val2820Glu) | |
| 1 | g.215878864C>A | CA344830798 | USH2A | c.8458G>T (p.Val2820Leu) | |
| 1 | g.215878864C= | CA1140684298 | USH2A | c.8458G= (p.Val2820=) | |
| 1 | g.215878864C>G | CA344830801 | USH2A | c.8458G>C (p.Val2820Leu) | |
| 1 | g.215878864C>T | CA182732 | USH2A | c.8458G>A (p.Val2820Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215878865G>A | CA1394603 | USH2A | c.8457C>T (p.Thr2819=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215878865G>C | CA423430292 | USH2A | c.8457C>G (p.Thr2819=) | gnomAD v4 |
| 1 | g.215878865G= | CA1143686784 | USH2A | c.8457C= (p.Thr2819=) | |
| 1 | g.215878865G>T | CA423430293 | USH2A | c.8457C>A (p.Thr2819=) | dbSNP gnomAD v2 |
| 1 | g.215878866del | CA2739275594 | USH2A | c.8457del (p.Val2820TyrfsTer10) | ClinVar |
| 1 | g.215878866G>A | CA344830805 | USH2A | c.8456C>T (p.Thr2819Ile) | |
| 1 | g.215878866G>C | CA344830810 | USH2A | c.8456C>G (p.Thr2819Ser) | |
| 1 | g.215878866G= | CA1220461607 | USH2A | c.8456C= (p.Thr2819=) | |
| 1 | g.215878866G>T | CA37433833 | USH2A | c.8456C>A (p.Thr2819Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215878867T>A | CA344830815 | USH2A | c.8455A>T (p.Thr2819Ser) | |
| 1 | g.215878867T>C | CA344830821 | USH2A | c.8455A>G (p.Thr2819Ala) | dbSNP gnomAD v4 |
| 1 | g.215878867T>G | CA344830817 | USH2A | c.8455A>C (p.Thr2819Pro) | |
| 1 | g.215878867T= | CA1220461609 | USH2A | c.8455A= (p.Thr2819=) | |
| 1 | g.215878868G>A | CA423430295 | USH2A | c.8454C>T (p.Pro2818=) | |
| 1 | g.215878868G>C | CA423430296 | USH2A | c.8454C>G (p.Pro2818=) | |
| 1 | g.215878868G>T | CA423430298 | USH2A | c.8454C>A (p.Pro2818=) | |
| 1 | g.215878869G>A | CA344830825 | USH2A | c.8453C>T (p.Pro2818Leu) | |
| 1 | g.215878869G>C | CA344830848 | USH2A | c.8453C>G (p.Pro2818Arg) | COSMIC COSMIC |
| 1 | g.215878869G>T | CA344830837 | USH2A | c.8453C>A (p.Pro2818His) | |
| 1 | g.215878870G>A | CA344830851 | USH2A | c.8452C>T (p.Pro2818Ser) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215878870G>C | CA344830870 | USH2A | c.8452C>G (p.Pro2818Ala) | dbSNP |
| 1 | g.215878870G= | CA1220461611 | USH2A | c.8452C= (p.Pro2818=) | |
| 1 | g.215878870G>T | CA344830858 | USH2A | c.8452C>A (p.Pro2818Thr) | |
| 1 | g.215878871G>A | CA423430301 | USH2A | c.8451C>T (p.His2817=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215878871G>C | CA344830879 | USH2A | c.8451C>G (p.His2817Gln) | |
| 1 | g.215878871G= | CA1220461615 | USH2A | c.8451C= (p.His2817=) | |
| 1 | g.215878871G>T | CA344830897 | USH2A | c.8451C>A (p.His2817Gln) | |
| 1 | g.215878872T>A | CA344830902 | USH2A | c.8450A>T (p.His2817Leu) | |
| 1 | g.215878872T>C | CA344830906 | USH2A | c.8450A>G (p.His2817Arg) | COSMIC COSMIC |
| 1 | g.215878872T>G | CA344830919 | USH2A | c.8450A>C (p.His2817Pro) | dbSNP gnomAD v2 |
| 1 | g.215878872T= | CA1220461616 | USH2A | c.8450A= (p.His2817=) | |
| 1 | g.215878873G>A | CA344830921 | USH2A | c.8449C>T (p.His2817Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215878873G>C | CA344830922 | USH2A | c.8449C>G (p.His2817Asp) | |
| 1 | g.215878873G= | CA1220461618 | USH2A | c.8449C= (p.His2817=) | |
| 1 | g.215878873G>T | CA344830923 | USH2A | c.8449C>A (p.His2817Asn) | |
| 1 | g.215878874del | CA2586968211 | USH2A | c.8448del (p.His2817ThrfsTer13) | |
| 1 | g.215878874A>C | CA423430304 | USH2A | c.8448T>G (p.Thr2816=) | ClinVar |
| 1 | g.215878874A>G | CA423430306 | USH2A | c.8448T>C (p.Thr2816=) | |
| 1 | g.215878874A>T | CA423430303 | USH2A | c.8448T>A (p.Thr2816=) | |
| 1 | g.215878875G>A | CA344830928 | USH2A | c.8447C>T (p.Thr2816Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215878875G>C | CA344830929 | USH2A | c.8447C>G (p.Thr2816Ser) | |
| 1 | g.215878875G= | CA1220461623 | USH2A | c.8447C= (p.Thr2816=) | |
| 1 | g.215878875G>T | CA344830930 | USH2A | c.8447C>A (p.Thr2816Asn) | |
| 1 | g.215878876T>A | CA344830942 | USH2A | c.8446A>T (p.Thr2816Ser) | COSMIC COSMIC |
| 1 | g.215878876T>C | CA344830934 | USH2A | c.8446A>G (p.Thr2816Ala) | |
| 1 | g.215878876T>G | CA344830939 | USH2A | c.8446A>C (p.Thr2816Pro) | |
| 1 | g.215878877G>A | CA423430311 | USH2A | c.8445C>T (p.Thr2815=) | |
| 1 | g.215878877G>C | CA423430310 | USH2A | c.8445C>G (p.Thr2815=) | |
| 1 | g.215878877G= | CA1143944758 | USH2A | c.8445C= (p.Thr2815=) | |
| 1 | g.215878877G>T | CA1394604 | USH2A | c.8445C>A (p.Thr2815=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215878877_215878881del | CA2574133227 | USH2A | c.8441_8445del (p.Val2814AspfsTer19) | |
| 1 | g.215878878G>A | CA344830962 | USH2A | c.8444C>T (p.Thr2815Ile) | |
| 1 | g.215878878G>C | CA344830965 | USH2A | c.8444C>G (p.Thr2815Ser) | |
| 1 | g.215878878G>T | CA344830970 | USH2A | c.8444C>A (p.Thr2815Asn) | |
| 1 | g.215878879T>A | CA344830974 | USH2A | c.8443A>T (p.Thr2815Ser) | |
| 1 | g.215878879T>C | CA1394605 | USH2A | c.8443A>G (p.Thr2815Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215878879T>G | CA344830983 | USH2A | c.8443A>C (p.Thr2815Pro) | |
| 1 | g.215878879T= | CA1220461629 | USH2A | c.8443A= (p.Thr2815=) | |
| 1 | g.215878880A>C | CA423430315 | USH2A | c.8442T>G (p.Val2814=) | gnomAD v4 |
| 1 | g.215878880A>G | CA423430317 | USH2A | c.8442T>C (p.Val2814=) | |
| 1 | g.215878880A>T | CA423430316 | USH2A | c.8442T>A (p.Val2814=) | |
| 1 | g.215878881dup | CA2499214478 | USH2A | c.8442dup (p.Thr2815TyrfsTer20) | ClinVar dbSNP |
| 1 | g.215878881A>C | CA344830988 | USH2A | c.8441T>G (p.Val2814Gly) | |
| 1 | g.215878881A>G | CA344830992 | USH2A | c.8441T>C (p.Val2814Ala) | |
| 1 | g.215878881A>T | CA344830996 | USH2A | c.8441T>A (p.Val2814Asp) | |
| 1 | g.215878882C>A | CA1394606 | USH2A | c.8440G>T (p.Val2814Phe) | dbSNP ExAC gnomAD v2 |
| 1 | g.215878882C= | CA1149145863 | USH2A | c.8440G= (p.Val2814=) | |
| 1 | g.215878882C>G | CA344831007 | USH2A | c.8440G>C (p.Val2814Leu) | |
| 1 | g.215878882C>T | CA344830999 | USH2A | c.8440G>A (p.Val2814Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215878883A>C | CA344831016 | USH2A | c.8439T>G (p.Tyr2813Ter) | |
| 1 | g.215878883A>G | CA423430319 | USH2A | c.8439T>C (p.Tyr2813=) | ClinVar dbSNP |
| 1 | g.215878883A>T | CA344831022 | USH2A | c.8439T>A (p.Tyr2813Ter) | |
| 1 | g.215878883_215878887delinsATAGG | CA1220461636 | USH2A | c.8435_8439delinsCCTAT (p.Thr2812=) | |
| 1 | g.215878884T>A | CA344831024 | USH2A | c.8438A>T (p.Tyr2813Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215878884T>C | CA344831025 | USH2A | c.8438A>G (p.Tyr2813Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215878884T>G | CA344831028 | USH2A | c.8438A>C (p.Tyr2813Ser) | |
| 1 | g.215878884T= | CA1220461640 | USH2A | c.8438A= (p.Tyr2813=) | |
| 1 | g.215878890_215878893del | CA1220461641 | USH2A | c.8435_8438del (p.Thr2812MetfsTer17) | ClinVar dbSNP |
| 1 | g.215878885A>C | CA344831034 | USH2A | c.8437T>G (p.Tyr2813Asp) | |
| 1 | g.215878885A>G | CA344831035 | USH2A | c.8437T>C (p.Tyr2813His) | |
| 1 | g.215878885A>T | CA344831039 | USH2A | c.8437T>A (p.Tyr2813Asn) | |
| 1 | g.215878886G>A | CA423430321 | USH2A | c.8436C>T (p.Thr2812=) | |
| 1 | g.215878886G>C | CA1394607 | USH2A | c.8436C>G (p.Thr2812=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215878886G= | CA1220461644 | USH2A | c.8436C= (p.Thr2812=) | |
| 1 | g.215878886G>T | CA423430322 | USH2A | c.8436C>A (p.Thr2812=) | |
| 1 | g.215878887G>A | CA344831054 | USH2A | c.8435C>T (p.Thr2812Ile) | |
| 1 | g.215878887G>C | CA344831056 | USH2A | c.8435C>G (p.Thr2812Ser) | |
| 1 | g.215878887G>T | CA344831061 | USH2A | c.8435C>A (p.Thr2812Asn) |