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.215671159A>C | CA344841102 | USH2A | c.13946T>G (p.Phe4649Cys) | |
| 1 | g.215671159A>G | CA344841104 | USH2A | c.13946T>C (p.Phe4649Ser) | |
| 1 | g.215671159A>T | CA344841108 | USH2A | c.13946T>A (p.Phe4649Tyr) | |
| 1 | g.215671160A>C | CA344841118 | USH2A | c.13945T>G (p.Phe4649Val) | |
| 1 | g.215671160A>G | CA344841111 | USH2A | c.13945T>C (p.Phe4649Leu) | |
| 1 | g.215671160A>T | CA344841114 | USH2A | c.13945T>A (p.Phe4649Ile) | |
| 1 | g.215671161T>A | CA423426421 | USH2A | c.13944A>T (p.Gly4648=) | |
| 1 | g.215671161T>C | CA423426422 | USH2A | c.13944A>G (p.Gly4648=) | |
| 1 | g.215671161T>G | CA423426423 | USH2A | c.13944A>C (p.Gly4648=) | |
| 1 | g.215671161_215671163delinsTCC | CA1220372173 | USH2A | c.13942_13944delinsGGA (p.Gly4648=) | |
| 1 | g.215671162C>A | CA344841121 | USH2A | c.13943G>T (p.Gly4648Val) | COSMIC COSMIC |
| 1 | g.215671162C>G | CA344841125 | USH2A | c.13943G>C (p.Gly4648Ala) | |
| 1 | g.215671162C>T | CA344841132 | USH2A | c.13943G>A (p.Gly4648Glu) | COSMIC COSMIC |
| 1 | g.215671162_215671163delinsA | CA916082112 | USH2A | c.13942_13943delinsT (p.Gly4648TyrfsTer30) | ClinVar dbSNP |
| 1 | g.215671163del | CA529002011 | USH2A | c.13943del (p.Gly4648AspfsTer30) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671163C>A | CA344841138 | USH2A | c.13942G>T (p.Gly4648Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215671163C= | CA1220372174 | USH2A | c.13942G= (p.Gly4648=) | |
| 1 | g.215671163C>G | CA344841140 | USH2A | c.13942G>C (p.Gly4648Arg) | COSMIC COSMIC |
| 1 | g.215671163C>T | CA344841143 | USH2A | c.13942G>A (p.Gly4648Arg) | gnomAD v4 |
| 1 | g.215671164T>A | CA423426427 | USH2A | c.13941A>T (p.Gly4647=) | |
| 1 | g.215671164T>C | CA423426428 | USH2A | c.13941A>G (p.Gly4647=) | |
| 1 | g.215671164T>G | CA423426429 | USH2A | c.13941A>C (p.Gly4647=) | |
| 1 | g.215671165C>A | CA344841146 | USH2A | c.13940G>T (p.Gly4647Val) | |
| 1 | g.215671165C= | CA1220372175 | USH2A | c.13940G= (p.Gly4647=) | |
| 1 | g.215671165C>G | CA344841148 | USH2A | c.13940G>C (p.Gly4647Ala) | |
| 1 | g.215671165C>T | CA344841152 | USH2A | c.13940G>A (p.Gly4647Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215671166C>A | CA344841159 | USH2A | c.13939G>T (p.Gly4647Ter) | |
| 1 | g.215671166C= | CA1141997102 | USH2A | c.13939G= (p.Gly4647=) | |
| 1 | g.215671166C>G | CA1393175 | USH2A | c.13939G>C (p.Gly4647Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671166C>T | CA344841164 | USH2A | c.13939G>A (p.Gly4647Arg) | gnomAD v4 |
| 1 | g.215671167T>A | CA423426431 | USH2A | c.13938A>T (p.Pro4646=) | |
| 1 | g.215671167T>C | CA423426432 | USH2A | c.13938A>G (p.Pro4646=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215671167T>G | CA423426433 | USH2A | c.13938A>C (p.Pro4646=) | |
| 1 | g.215671167T= | CA1220372176 | USH2A | c.13938A= (p.Pro4646=) | |
| 1 | g.215671168G>A | CA344841181 | USH2A | c.13937C>T (p.Pro4646Leu) | |
| 1 | g.215671168G>C | CA344841183 | USH2A | c.13937C>G (p.Pro4646Arg) | |
| 1 | g.215671168G>T | CA344841180 | USH2A | c.13937C>A (p.Pro4646Gln) | |
| 1 | g.215671169G>A | CA344841186 | USH2A | c.13936C>T (p.Pro4646Ser) | gnomAD v4 |
| 1 | g.215671169G>C | CA344841190 | USH2A | c.13936C>G (p.Pro4646Ala) | |
| 1 | g.215671169G= | CA1220372177 | USH2A | c.13936C= (p.Pro4646=) | |
| 1 | g.215671169G>T | CA1393176 | USH2A | c.13936C>A (p.Pro4646Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671170A= | CA1220372178 | USH2A | c.13935T= (p.Ala4645=) | |
| 1 | g.215671170A>C | CA423426438 | USH2A | c.13935T>G (p.Ala4645=) | |
| 1 | g.215671170A>G | CA423426437 | USH2A | c.13935T>C (p.Ala4645=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215671170A>T | CA423426435 | USH2A | c.13935T>A (p.Ala4645=) | |
| 1 | g.215671171G>A | CA344841200 | USH2A | c.13934C>T (p.Ala4645Val) | |
| 1 | g.215671171G>C | CA344841204 | USH2A | c.13934C>G (p.Ala4645Gly) | dbSNP |
| 1 | g.215671171G= | CA1220372179 | USH2A | c.13934C= (p.Ala4645=) | |
| 1 | g.215671171G>T | CA344841208 | USH2A | c.13934C>A (p.Ala4645Asp) | |
| 1 | g.215671172C>A | CA344841218 | USH2A | c.13933G>T (p.Ala4645Ser) | |
| 1 | g.215671172C>G | CA344841212 | USH2A | c.13933G>C (p.Ala4645Pro) | |
| 1 | g.215671172C>T | CA344841216 | USH2A | c.13933G>A (p.Ala4645Thr) | |
| 1 | g.215671173C>A | CA344841231 | USH2A | c.13932G>T (p.Met4644Ile) | gnomAD v4 |
| 1 | g.215671173C>G | CA344841233 | USH2A | c.13932G>C (p.Met4644Ile) | |
| 1 | g.215671173C>T | CA344841235 | USH2A | c.13932G>A (p.Met4644Ile) | gnomAD v4 |
| 1 | g.215671174A>C | CA344841243 | USH2A | c.13931T>G (p.Met4644Arg) | |
| 1 | g.215671174A>G | CA344841244 | USH2A | c.13931T>C (p.Met4644Thr) | gnomAD v4 |
| 1 | g.215671174A>T | CA344841245 | USH2A | c.13931T>A (p.Met4644Lys) | COSMIC COSMIC |
| 1 | g.215671175T>A | CA344841246 | USH2A | c.13930A>T (p.Met4644Leu) | |
| 1 | g.215671175T>C | CA344841250 | USH2A | c.13930A>G (p.Met4644Val) | |
| 1 | g.215671175T>G | CA344841248 | USH2A | c.13930A>C (p.Met4644Leu) | |
| 1 | g.215671176T>A | CA344841253 | USH2A | c.13929A>T (p.Gln4643His) | |
| 1 | g.215671176T>C | CA423426448 | USH2A | c.13929A>G (p.Gln4643=) | |
| 1 | g.215671176T>G | CA344841255 | USH2A | c.13929A>C (p.Gln4643His) | |
| 1 | g.215671177T>A | CA344841260 | USH2A | c.13928A>T (p.Gln4643Leu) | |
| 1 | g.215671177T>C | CA344841262 | USH2A | c.13928A>G (p.Gln4643Arg) | |
| 1 | g.215671177T>G | CA344841266 | USH2A | c.13928A>C (p.Gln4643Pro) | |
| 1 | g.215671178G>A | CA344841270 | USH2A | c.13927C>T (p.Gln4643Ter) | |
| 1 | g.215671178G>C | CA344841273 | USH2A | c.13927C>G (p.Gln4643Glu) | |
| 1 | g.215671178G>T | CA344841276 | USH2A | c.13927C>A (p.Gln4643Lys) | |
| 1 | g.215671179T>A | CA1393177 | USH2A | c.13926A>T (p.Val4642=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671179T>C | CA423426454 | USH2A | c.13926A>G (p.Val4642=) | |
| 1 | g.215671179T>G | CA423426455 | USH2A | c.13926A>C (p.Val4642=) | |
| 1 | g.215671179T= | CA1220372180 | USH2A | c.13926A= (p.Val4642=) | |
| 1 | g.215671179dup | CA2586968121 | USH2A | c.13926dup (p.Gln4643ThrfsTer?) | |
| 1 | g.215671179_215671180dup | CA2580062060 | USH2A | c.13925_13926dup (p.Gln4643TyrfsTer?) | ClinVar |
| 1 | g.215671180A>C | CA344841282 | USH2A | c.13925T>G (p.Val4642Gly) | |
| 1 | g.215671180A>G | CA344841288 | USH2A | c.13925T>C (p.Val4642Ala) | gnomAD v4 |
| 1 | g.215671180A>T | CA344841290 | USH2A | c.13925T>A (p.Val4642Glu) | |
| 1 | g.215671181C>A | CA344841293 | USH2A | c.13924G>T (p.Val4642Leu) | |
| 1 | g.215671181C= | CA1220372181 | USH2A | c.13924G= (p.Val4642=) | |
| 1 | g.215671181C>G | CA344841300 | USH2A | c.13924G>C (p.Val4642Leu) | |
| 1 | g.215671181C>T | CA344841296 | USH2A | c.13924G>A (p.Val4642Ile) | dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.215671182C>A | CA344841302 | USH2A | c.13923G>T (p.Glu4641Asp) | |
| 1 | g.215671182C>G | CA344841304 | USH2A | c.13923G>C (p.Glu4641Asp) | |
| 1 | g.215671182C>T | CA423426457 | USH2A | c.13923G>A (p.Glu4641=) | |
| 1 | g.215671183T>A | CA344841307 | USH2A | c.13922A>T (p.Glu4641Val) | |
| 1 | g.215671183T>C | CA344841312 | USH2A | c.13922A>G (p.Glu4641Gly) | |
| 1 | g.215671183T>G | CA344841309 | USH2A | c.13922A>C (p.Glu4641Ala) | |
| 1 | g.215671184C>A | CA344841314 | USH2A | c.13921G>T (p.Glu4641Ter) | |
| 1 | g.215671184C>G | CA344841318 | USH2A | c.13921G>C (p.Glu4641Gln) | |
| 1 | g.215671184C>T | CA344841315 | USH2A | c.13921G>A (p.Glu4641Lys) | gnomAD v4 |
| 1 | g.215671185C>A | CA423426459 | USH2A | c.13920G>T (p.Leu4640=) | |
| 1 | g.215671185C>G | CA423426460 | USH2A | c.13920G>C (p.Leu4640=) | |
| 1 | g.215671185C>T | CA423426458 | USH2A | c.13920G>A (p.Leu4640=) | gnomAD v4 COSMIC COSMIC |
| 1 | g.215671186A>C | CA344841323 | USH2A | c.13919T>G (p.Leu4640Arg) | |
| 1 | g.215671186A>G | CA344841333 | USH2A | c.13919T>C (p.Leu4640Pro) | gnomAD v4 |
| 1 | g.215671186A>T | CA344841336 | USH2A | c.13919T>A (p.Leu4640Gln) | |
| 1 | g.215671187G>A | CA423426464 | USH2A | c.13918C>T (p.Leu4640=) | |
| 1 | g.215671187G>C | CA344841343 | USH2A | c.13918C>G (p.Leu4640Val) | |
| 1 | g.215671187G>T | CA344841351 | USH2A | c.13918C>A (p.Leu4640Met) | |
| 1 | g.215671188A= | CA1220372182 | USH2A | c.13917T= (p.His4639=) | |
| 1 | g.215671188A>C | CA344841355 | USH2A | c.13917T>G (p.His4639Gln) | |
| 1 | g.215671188A>G | CA423426466 | USH2A | c.13917T>C (p.His4639=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215671188A>T | CA344841357 | USH2A | c.13917T>A (p.His4639Gln) | |
| 1 | g.215671189T>A | CA37410157 | USH2A | c.13916A>T (p.His4639Leu) | dbSNP gnomAD v4 |
| 1 | g.215671189T>C | CA344841361 | USH2A | c.13916A>G (p.His4639Arg) | gnomAD v4 |
| 1 | g.215671189T>G | CA344841362 | USH2A | c.13916A>C (p.His4639Pro) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215671189T= | CA1220372183 | USH2A | c.13916A= (p.His4639=) | |
| 1 | g.215671190G>A | CA344841363 | USH2A | c.13915C>T (p.His4639Tyr) | dbSNP gnomAD v2 |
| 1 | g.215671190G>C | CA344841364 | USH2A | c.13915C>G (p.His4639Asp) | |
| 1 | g.215671190G= | CA1143386857 | USH2A | c.13915C= (p.His4639=) | |
| 1 | g.215671190G>T | CA1393178 | USH2A | c.13915C>A (p.His4639Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671191T>A | CA423426469 | USH2A | c.13914A>T (p.Pro4638=) | |
| 1 | g.215671191T>C | CA423426470 | USH2A | c.13914A>G (p.Pro4638=) | gnomAD v4 |
| 1 | g.215671191T>G | CA423426471 | USH2A | c.13914A>C (p.Pro4638=) | |
| 1 | g.215671192G>A | CA344841367 | USH2A | c.13913C>T (p.Pro4638Leu) | |
| 1 | g.215671192G>C | CA344841365 | USH2A | c.13913C>G (p.Pro4638Arg) | |
| 1 | g.215671192G>T | CA344841366 | USH2A | c.13913C>A (p.Pro4638Gln) | gnomAD v4 |
| 1 | g.215671193G>A | CA344841368 | USH2A | c.13912C>T (p.Pro4638Ser) | gnomAD v4 |
| 1 | g.215671193G>C | CA344841369 | USH2A | c.13912C>G (p.Pro4638Ala) | |
| 1 | g.215671193G>T | CA344841370 | USH2A | c.13912C>A (p.Pro4638Thr) | COSMIC COSMIC |
| 1 | g.215671194A>C | CA423426477 | USH2A | c.13911T>G (p.Pro4637=) | ClinVar gnomAD v4 |
| 1 | g.215671194A>G | CA423426478 | USH2A | c.13911T>C (p.Pro4637=) | ClinVar dbSNP |
| 1 | g.215671194A>T | CA423426479 | USH2A | c.13911T>A (p.Pro4637=) | |
| 1 | g.215671195G>A | CA344841372 | USH2A | c.13910C>T (p.Pro4637Leu) | |
| 1 | g.215671195G>C | CA344841374 | USH2A | c.13910C>G (p.Pro4637Arg) | |
| 1 | g.215671195G>T | CA344841377 | USH2A | c.13910C>A (p.Pro4637His) | |
| 1 | g.215671199del | CA423426480 | USH2A | c.13910del (p.Pro4637LeufsTer?) | COSMIC |
| 1 | g.215671196G>A | CA1393179 | USH2A | c.13909C>T (p.Pro4637Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671196G>C | CA344841383 | USH2A | c.13909C>G (p.Pro4637Ala) | |
| 1 | g.215671196G= | CA1220372184 | USH2A | c.13909C= (p.Pro4637=) | |
| 1 | g.215671196G>T | CA344841384 | USH2A | c.13909C>A (p.Pro4637Thr) | COSMIC COSMIC |
| 1 | g.215671197G>A | CA423426482 | USH2A | c.13908C>T (p.Pro4636=) | |
| 1 | g.215671197G>C | CA423426483 | USH2A | c.13908C>G (p.Pro4636=) | ClinVar dbSNP |
| 1 | g.215671197G>T | CA423426485 | USH2A | c.13908C>A (p.Pro4636=) | |
| 1 | g.215671198G>A | CA1393180 | USH2A | c.13907C>T (p.Pro4636Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671198G>C | CA344841387 | USH2A | c.13907C>G (p.Pro4636Arg) | gnomAD v4 |
| 1 | g.215671198G= | CA1142374476 | USH2A | c.13907C= (p.Pro4636=) | |
| 1 | g.215671198G>T | CA344841390 | USH2A | c.13907C>A (p.Pro4636His) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.215671199G>A | CA1393181 | USH2A | c.13906C>T (p.Pro4636Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671199G>C | CA344841397 | USH2A | c.13906C>G (p.Pro4636Ala) | |
| 1 | g.215671199G= | CA1220372185 | USH2A | c.13906C= (p.Pro4636=) | |
| 1 | g.215671199G>T | CA344841395 | USH2A | c.13906C>A (p.Pro4636Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671200T>A | CA344841399 | USH2A | c.13905A>T (p.Gln4635His) | |
| 1 | g.215671200T>C | CA423426487 | USH2A | c.13905A>G (p.Gln4635=) | COSMIC COSMIC |
| 1 | g.215671200T>G | CA344841401 | USH2A | c.13905A>C (p.Gln4635His) | dbSNP |
| 1 | g.215671200T= | CA1220372186 | USH2A | c.13905A= (p.Gln4635=) | |
| 1 | g.215671201T>A | CA344841404 | USH2A | c.13904A>T (p.Gln4635Leu) | |
| 1 | g.215671201T>C | CA344841406 | USH2A | c.13904A>G (p.Gln4635Arg) | |
| 1 | g.215671201T>G | CA344841410 | USH2A | c.13904A>C (p.Gln4635Pro) | |
| 1 | g.215671202G>A | CA344841416 | USH2A | c.13903C>T (p.Gln4635Ter) | |
| 1 | g.215671202G>C | CA344841418 | USH2A | c.13903C>G (p.Gln4635Glu) | |
| 1 | g.215671202G>T | CA344841420 | USH2A | c.13903C>A (p.Gln4635Lys) | |
| 1 | g.215671203C>A | CA344841424 | USH2A | c.13902G>T (p.Met4634Ile) | |
| 1 | g.215671203C>G | CA344841428 | USH2A | c.13902G>C (p.Met4634Ile) | |
| 1 | g.215671203C>T | CA344841430 | USH2A | c.13902G>A (p.Met4634Ile) | |
| 1 | g.215671205_215671221del | CA2499214435 | USH2A | c.13886_13902del (p.Glu4629AlafsTer?) | ClinVar dbSNP |
| 1 | g.215671204A>C | CA344841440 | USH2A | c.13901T>G (p.Met4634Arg) | gnomAD v4 |
| 1 | g.215671204A>G | CA344841433 | USH2A | c.13901T>C (p.Met4634Thr) | |
| 1 | g.215671204A>T | CA344841437 | USH2A | c.13901T>A (p.Met4634Lys) | |
| 1 | g.215671205T>A | CA344841443 | USH2A | c.13900A>T (p.Met4634Leu) | |
| 1 | g.215671205T>C | CA344841447 | USH2A | c.13900A>G (p.Met4634Val) | |
| 1 | g.215671205T>G | CA344841449 | USH2A | c.13900A>C (p.Met4634Leu) | |
| 1 | g.215671206C>A | CA344841452 | USH2A | c.13899G>T (p.Leu4633Phe) | COSMIC COSMIC |
| 1 | g.215671206C>G | CA344841456 | USH2A | c.13899G>C (p.Leu4633Phe) | |
| 1 | g.215671206C>T | CA423426496 | USH2A | c.13899G>A (p.Leu4633=) | |
| 1 | g.215671206_215671207del | CA913072748 | USH2A | c.13898_13899del (p.Leu4633TyrfsTer?) | |
| 1 | g.215671206_215671207delinsCA | CA1220372187 | USH2A | c.13898_13899delinsTG (p.Leu4633=) | |
| 1 | g.215671207A>C | CA344841461 | USH2A | c.13898T>G (p.Leu4633Trp) | |
| 1 | g.215671207A>G | CA344841463 | USH2A | c.13898T>C (p.Leu4633Ser) | |
| 1 | g.215671207A>T | CA344841466 | USH2A | c.13898T>A (p.Leu4633Ter) | |
| 1 | g.215671209del | CA658822638 | USH2A | c.13898del (p.Leu4633Ter) | ClinVar dbSNP |
| 1 | g.215671208A= | CA1220372188 | USH2A | c.13897T= (p.Leu4633=) | |
| 1 | g.215671208A>C | CA344841469 | USH2A | c.13897T>G (p.Leu4633Val) | |
| 1 | g.215671208A>G | CA1393182 | USH2A | c.13897T>C (p.Leu4633=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671208A>T | CA344841474 | USH2A | c.13897T>A (p.Leu4633Met) | |
| 1 | g.215671209A>C | CA423426498 | USH2A | c.13896T>G (p.Pro4632=) | |
| 1 | g.215671209A>G | CA423426499 | USH2A | c.13896T>C (p.Pro4632=) | |
| 1 | g.215671209A>T | CA423426501 | USH2A | c.13896T>A (p.Pro4632=) | |
| 1 | g.215671210G>A | CA344841479 | USH2A | c.13895C>T (p.Pro4632Leu) | |
| 1 | g.215671210G>C | CA344841483 | USH2A | c.13895C>G (p.Pro4632Arg) | |
| 1 | g.215671210G>T | CA344841476 | USH2A | c.13895C>A (p.Pro4632His) | gnomAD v4 |
| 1 | g.215671211G>A | CA344841491 | USH2A | c.13894C>T (p.Pro4632Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671211G>C | CA344841488 | USH2A | c.13894C>G (p.Pro4632Ala) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215671211G= | CA1220372189 | USH2A | c.13894C= (p.Pro4632=) | |
| 1 | g.215671211G>T | CA344841490 | USH2A | c.13894C>A (p.Pro4632Thr) | gnomAD v4 |
| 1 | g.215671212T>A | CA423426503 | USH2A | c.13893A>T (p.Ala4631=) | |
| 1 | g.215671212T>C | CA423426504 | USH2A | c.13893A>G (p.Ala4631=) | COSMIC COSMIC |
| 1 | g.215671212T>G | CA423426505 | USH2A | c.13893A>C (p.Ala4631=) | |
| 1 | g.215671213G>A | CA344841493 | USH2A | c.13892C>T (p.Ala4631Val) | |
| 1 | g.215671213G>C | CA344841496 | USH2A | c.13892C>G (p.Ala4631Gly) | |
| 1 | g.215671213G>T | CA344841499 | USH2A | c.13892C>A (p.Ala4631Glu) | |
| 1 | g.215671214C>A | CA344841501 | USH2A | c.13891G>T (p.Ala4631Ser) | |
| 1 | g.215671214C= | CA1149060914 | USH2A | c.13891G= (p.Ala4631=) | |
| 1 | g.215671214C>G | CA344841502 | USH2A | c.13891G>C (p.Ala4631Pro) | |
| 1 | g.215671214C>T | CA1393183 | USH2A | c.13891G>A (p.Ala4631Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671215A= | CA1220372190 | USH2A | c.13890T= (p.Ile4630=) | |
| 1 | g.215671215A>C | CA344841506 | USH2A | c.13890T>G (p.Ile4630Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671215A>G | CA423426507 | USH2A | c.13890T>C (p.Ile4630=) | |
| 1 | g.215671215A>T | CA423426508 | USH2A | c.13890T>A (p.Ile4630=) | |
| 1 | g.215671216A= | CA1220372191 | USH2A | c.13889T= (p.Ile4630=) | |
| 1 | g.215671216A>C | CA344841509 | USH2A | c.13889T>G (p.Ile4630Ser) | |
| 1 | g.215671216A>G | CA344841522 | USH2A | c.13889T>C (p.Ile4630Thr) | dbSNP |
| 1 | g.215671216A>T | CA344841524 | USH2A | c.13889T>A (p.Ile4630Asn) | |
| 1 | g.215671217T>A | CA344841540 | USH2A | c.13888A>T (p.Ile4630Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215671217T>C | CA344841529 | USH2A | c.13888A>G (p.Ile4630Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671217T>G | CA344841538 | USH2A | c.13888A>C (p.Ile4630Leu) | |
| 1 | g.215671217T= | CA1220372192 | USH2A | c.13888A= (p.Ile4630=) | |
| 1 | g.215671218C>A | CA344841544 | USH2A | c.13887G>T (p.Glu4629Asp) | ClinVar dbSNP COSMIC COSMIC |
| 1 | g.215671218C= | CA1220372193 | USH2A | c.13887G= (p.Glu4629=) | |
| 1 | g.215671218C>G | CA344841547 | USH2A | c.13887G>C (p.Glu4629Asp) | |
| 1 | g.215671218C>T | CA423426514 | USH2A | c.13887G>A (p.Glu4629=) | |
| 1 | g.215671219T>A | CA344841552 | USH2A | c.13886A>T (p.Glu4629Val) | gnomAD v4 COSMIC COSMIC |
| 1 | g.215671219T>C | CA344841554 | USH2A | c.13886A>G (p.Glu4629Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671219T>G | CA344841563 | USH2A | c.13886A>C (p.Glu4629Ala) | gnomAD v4 COSMIC COSMIC |
| 1 | g.215671219T= | CA1220372194 | USH2A | c.13886A= (p.Glu4629=) | |
| 1 | g.215671220C>A | CA344841566 | USH2A | c.13885G>T (p.Glu4629Ter) | |
| 1 | g.215671220C= | CA1220372195 | USH2A | c.13885G= (p.Glu4629=) | |
| 1 | g.215671220C>G | CA344841568 | USH2A | c.13885G>C (p.Glu4629Gln) | |
| 1 | g.215671220C>T | CA37410195 | USH2A | c.13885G>A (p.Glu4629Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671221A>C | CA423426519 | USH2A | c.13884T>G (p.Pro4628=) | |
| 1 | g.215671221A>G | CA423426520 | USH2A | c.13884T>C (p.Pro4628=) | |
| 1 | g.215671221A>T | CA423426521 | USH2A | c.13884T>A (p.Pro4628=) | COSMIC COSMIC |
| 1 | g.215671222G>A | CA344841570 | USH2A | c.13883C>T (p.Pro4628Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671222G>C | CA344841572 | USH2A | c.13883C>G (p.Pro4628Arg) | |
| 1 | g.215671222G= | CA1220372196 | USH2A | c.13883C= (p.Pro4628=) | |
| 1 | g.215671222G>T | CA344841574 | USH2A | c.13883C>A (p.Pro4628His) | |
| 1 | g.215671223G>A | CA344841581 | USH2A | c.13882C>T (p.Pro4628Ser) | |
| 1 | g.215671223G>C | CA344841589 | USH2A | c.13882C>G (p.Pro4628Ala) | ClinVar dbSNP |
| 1 | g.215671223G= | CA1220372197 | USH2A | c.13882C= (p.Pro4628=) | |
| 1 | g.215671223G>T | CA344841577 | USH2A | c.13882C>A (p.Pro4628Thr) | |
| 1 | g.215671224G>A | CA423426528 | USH2A | c.13881C>T (p.Thr4627=) | |
| 1 | g.215671224G>C | CA423426529 | USH2A | c.13881C>G (p.Thr4627=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671224G= | CA1220372198 | USH2A | c.13881C= (p.Thr4627=) | |
| 1 | g.215671224G>T | CA423426530 | USH2A | c.13881C>A (p.Thr4627=) | |
| 1 | g.215671225G>A | CA344841592 | USH2A | c.13880C>T (p.Thr4627Ile) | ClinVar gnomAD v4 |
| 1 | g.215671225G>C | CA344841595 | USH2A | c.13880C>G (p.Thr4627Ser) | |
| 1 | g.215671225G= | CA1220372199 | USH2A | c.13880C= (p.Thr4627=) | |
| 1 | g.215671225G>T | CA344841598 | USH2A | c.13880C>A (p.Thr4627Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671227_215671230del | CA2580062065 | USH2A | c.13877_13880del (p.Gln4626ProfsTer7) | ClinVar |
| 1 | g.215671226T>A | CA344841600 | USH2A | c.13879A>T (p.Thr4627Ser) | |
| 1 | g.215671226T>C | CA344841610 | USH2A | c.13879A>G (p.Thr4627Ala) | |
| 1 | g.215671226T>G | CA344841613 | USH2A | c.13879A>C (p.Thr4627Pro) | |
| 1 | g.215671227C>A | CA344841616 | USH2A | c.13878G>T (p.Gln4626His) | |
| 1 | g.215671227C= | CA1220372200 | USH2A | c.13878G= (p.Gln4626=) | |
| 1 | g.215671227C>G | CA344841622 | USH2A | c.13878G>C (p.Gln4626His) | dbSNP |
| 1 | g.215671227C>T | CA423426536 | USH2A | c.13878G>A (p.Gln4626=) | |
| 1 | g.215671228T>A | CA344841625 | USH2A | c.13877A>T (p.Gln4626Leu) | |
| 1 | g.215671228T>C | CA344841629 | USH2A | c.13877A>G (p.Gln4626Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215671228T>G | CA344841632 | USH2A | c.13877A>C (p.Gln4626Pro) | |
| 1 | g.215671228T= | CA1220372201 | USH2A | c.13877A= (p.Gln4626=) | |
| 1 | g.215671229G>A | CA344841636 | USH2A | c.13876C>T (p.Gln4626Ter) | ClinVar dbSNP |
| 1 | g.215671229G>C | CA344841639 | USH2A | c.13876C>G (p.Gln4626Glu) | ClinVar dbSNP |
| 1 | g.215671229G= | CA1220372202 | USH2A | c.13876C= (p.Gln4626=) | |
| 1 | g.215671229G>T | CA344841641 | USH2A | c.13876C>A (p.Gln4626Lys) | |
| 1 | g.215671230T>A | CA423426538 | USH2A | c.13875A>T (p.Ile4625=) | |
| 1 | g.215671230T>C | CA344841645 | USH2A | c.13875A>G (p.Ile4625Met) | |
| 1 | g.215671230T>G | CA423426539 | USH2A | c.13875A>C (p.Ile4625=) | |
| 1 | g.215671231A>C | CA344841648 | USH2A | c.13874T>G (p.Ile4625Arg) | |
| 1 | g.215671231A>G | CA344841666 | USH2A | c.13874T>C (p.Ile4625Thr) | |
| 1 | g.215671231A>T | CA344841670 | USH2A | c.13874T>A (p.Ile4625Lys) | |
| 1 | g.215671232T>A | CA344841672 | USH2A | c.13873A>T (p.Ile4625Leu) | |
| 1 | g.215671232T>C | CA344841673 | USH2A | c.13873A>G (p.Ile4625Val) | |
| 1 | g.215671232T>G | CA344841686 | USH2A | c.13873A>C (p.Ile4625Leu) | |
| 1 | g.215671233G>A | CA423426542 | USH2A | c.13872C>T (p.Phe4624=) | ClinVar dbSNP |
| 1 | g.215671233G>C | CA344841688 | USH2A | c.13872C>G (p.Phe4624Leu) | |
| 1 | g.215671233G>T | CA344841690 | USH2A | c.13872C>A (p.Phe4624Leu) | |
| 1 | g.215671234A>C | CA344841699 | USH2A | c.13871T>G (p.Phe4624Cys) | |
| 1 | g.215671234A>G | CA344841701 | USH2A | c.13871T>C (p.Phe4624Ser) | |
| 1 | g.215671234A>T | CA344841706 | USH2A | c.13871T>A (p.Phe4624Tyr) | |
| 1 | g.215671235A= | CA1220372203 | USH2A | c.13870T= (p.Phe4624=) | |
| 1 | g.215671235A>C | CA344841709 | USH2A | c.13870T>G (p.Phe4624Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671235A>G | CA344841710 | USH2A | c.13870T>C (p.Phe4624Leu) | |
| 1 | g.215671235A>T | CA344841712 | USH2A | c.13870T>A (p.Phe4624Ile) | |
| 1 | g.215671236T>A | CA423426544 | USH2A | c.13869A>T (p.Thr4623=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215671236T>C | CA423426545 | USH2A | c.13869A>G (p.Thr4623=) | ClinVar gnomAD v4 |
| 1 | g.215671236T>G | CA423426546 | USH2A | c.13869A>C (p.Thr4623=) | |
| 1 | g.215671237G>A | CA344841728 | USH2A | c.13868C>T (p.Thr4623Ile) | |
| 1 | g.215671237G>C | CA344841726 | USH2A | c.13868C>G (p.Thr4623Arg) | gnomAD v4 |
| 1 | g.215671237G>T | CA344841720 | USH2A | c.13868C>A (p.Thr4623Lys) | gnomAD v4 |
| 1 | g.215671238del | CA2573662647 | USH2A | c.13867del (p.Thr4623HisfsTer11) | |
| 1 | g.215671238T>A | CA344841731 | USH2A | c.13867A>T (p.Thr4623Ser) | |
| 1 | g.215671238T>C | CA344841735 | USH2A | c.13867A>G (p.Thr4623Ala) | |
| 1 | g.215671238T>G | CA344841734 | USH2A | c.13867A>C (p.Thr4623Pro) | |
| 1 | g.215671239C>A | CA344841740 | USH2A | c.13866G>T (p.Trp4622Cys) | |
| 1 | g.215671239C= | CA1220372204 | USH2A | c.13866G= (p.Trp4622=) | |
| 1 | g.215671239C>G | CA344841747 | USH2A | c.13866G>C (p.Trp4622Cys) | dbSNP |
| 1 | g.215671239C>T | CA344841748 | USH2A | c.13866G>A (p.Trp4622Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671240C>A | CA344841751 | USH2A | c.13865G>T (p.Trp4622Leu) | |
| 1 | g.215671240C= | CA1220372205 | USH2A | c.13865G= (p.Trp4622=) | |
| 1 | g.215671240C>G | CA344841753 | USH2A | c.13865G>C (p.Trp4622Ser) | |
| 1 | g.215671240C>T | CA344841757 | USH2A | c.13865G>A (p.Trp4622Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215671241A>C | CA344841763 | USH2A | c.13864T>G (p.Trp4622Gly) | |
| 1 | g.215671241A>G | CA344841765 | USH2A | c.13864T>C (p.Trp4622Arg) | |
| 1 | g.215671241A>T | CA344841766 | USH2A | c.13864T>A (p.Trp4622Arg) | |
| 1 | g.215671242G>A | CA423426551 | USH2A | c.13863C>T (p.Asp4621=) | |
| 1 | g.215671242G>C | CA344841768 | USH2A | c.13863C>G (p.Asp4621Glu) | |
| 1 | g.215671242G>T | CA344841770 | USH2A | c.13863C>A (p.Asp4621Glu) | |
| 1 | g.215671243T>A | CA344841779 | USH2A | c.13862A>T (p.Asp4621Val) | |
| 1 | g.215671243T>C | CA344841774 | USH2A | c.13862A>G (p.Asp4621Gly) | |
| 1 | g.215671243T>G | CA344841773 | USH2A | c.13862A>C (p.Asp4621Ala) | |
| 1 | g.215671244C>A | CA344841783 | USH2A | c.13861G>T (p.Asp4621Tyr) | |
| 1 | g.215671244C= | CA1220372206 | USH2A | c.13861G= (p.Asp4621=) | |
| 1 | g.215671244C>G | CA344841787 | USH2A | c.13861G>C (p.Asp4621His) | |
| 1 | g.215671244C>T | CA1393184 | USH2A | c.13861G>A (p.Asp4621Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671245A>C | CA344841790 | USH2A | c.13860T>G (p.Ser4620Arg) | |
| 1 | g.215671245A>G | CA423426555 | USH2A | c.13860T>C (p.Ser4620=) | |
| 1 | g.215671245A>T | CA344841791 | USH2A | c.13860T>A (p.Ser4620Arg) | |
| 1 | g.215671246C>A | CA344841792 | USH2A | c.13859G>T (p.Ser4620Ile) | |
| 1 | g.215671246C= | CA1220372207 | USH2A | c.13859G= (p.Ser4620=) | |
| 1 | g.215671246C>G | CA344841793 | USH2A | c.13859G>C (p.Ser4620Thr) | |
| 1 | g.215671246C>T | CA344841794 | USH2A | c.13859G>A (p.Ser4620Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215671247T>A | CA344841795 | USH2A | c.13858A>T (p.Ser4620Cys) | |
| 1 | g.215671247T>C | CA344841797 | USH2A | c.13858A>G (p.Ser4620Gly) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215671247T>G | CA344841798 | USH2A | c.13858A>C (p.Ser4620Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671247T= | CA1220372208 | USH2A | c.13858A= (p.Ser4620=) | |
| 1 | g.215671248dup | CA645519368 | USH2A | c.13858dup (p.Ser4620LysfsTer2) | COSMIC COSMIC |
| 1 | g.215671248T>A | CA423426560 | USH2A | c.13857A>T (p.Ser4619=) | |
| 1 | g.215671248T>C | CA1393185 | USH2A | c.13857A>G (p.Ser4619=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671248T>G | CA423426558 | USH2A | c.13857A>C (p.Ser4619=) | |
| 1 | g.215671248T= | CA1143945369 | USH2A | c.13857A= (p.Ser4619=) | |
| 1 | g.215671249G>A | CA344841824 | USH2A | c.13856C>T (p.Ser4619Leu) | gnomAD v4 |
| 1 | g.215671249G>C | CA344841820 | USH2A | c.13856C>G (p.Ser4619Ter) | ClinVar |
| 1 | g.215671249G>T | CA344841817 | USH2A | c.13856C>A (p.Ser4619Ter) | |
| 1 | g.215671250A>C | CA344841831 | USH2A | c.13855T>G (p.Ser4619Ala) | |
| 1 | g.215671250A>G | CA344841827 | USH2A | c.13855T>C (p.Ser4619Pro) | |
| 1 | g.215671250A>T | CA344841829 | USH2A | c.13855T>A (p.Ser4619Thr) | |
| 1 | g.215671251T>A | CA423426569 | USH2A | c.13854A>T (p.Ala4618=) | |
| 1 | g.215671251T>C | CA1393186 | USH2A | c.13854A>G (p.Ala4618=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671251T>G | CA423426561 | USH2A | c.13854A>C (p.Ala4618=) | |
| 1 | g.215671251T= | CA1148724243 | USH2A | c.13854A= (p.Ala4618=) | |
| 1 | g.215671252G>A | CA344841833 | USH2A | c.13853C>T (p.Ala4618Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671252G>C | CA344841836 | USH2A | c.13853C>G (p.Ala4618Gly) | |
| 1 | g.215671252G= | CA1220372209 | USH2A | c.13853C= (p.Ala4618=) | |
| 1 | g.215671252G>T | CA344841840 | USH2A | c.13853C>A (p.Ala4618Glu) | |
| 1 | g.215671253C>A | CA344841850 | USH2A | c.13852G>T (p.Ala4618Ser) | |
| 1 | g.215671253C>G | CA344841845 | USH2A | c.13852G>C (p.Ala4618Pro) | |
| 1 | g.215671253C>T | CA344841848 | USH2A | c.13852G>A (p.Ala4618Thr) | |
| 1 | g.215671254A= | CA1220372210 | USH2A | c.13851T= (p.Cys4617=) | |
| 1 | g.215671254A>C | CA344841852 | USH2A | c.13851T>G (p.Cys4617Trp) | |
| 1 | g.215671254A>G | CA423426572 | USH2A | c.13851T>C (p.Cys4617=) | dbSNP gnomAD v4 |
| 1 | g.215671254A>T | CA344841853 | USH2A | c.13851T>A (p.Cys4617Ter) | |
| 1 | g.215671255C>A | CA344841855 | USH2A | c.13850G>T (p.Cys4617Phe) | dbSNP gnomAD v4 |
| 1 | g.215671255C= | CA1220372211 | USH2A | c.13850G= (p.Cys4617=) | |
| 1 | g.215671255C>G | CA344841857 | USH2A | c.13850G>C (p.Cys4617Ser) | |
| 1 | g.215671255C>T | CA344841859 | USH2A | c.13850G>A (p.Cys4617Tyr) | dbSNP |
| 1 | g.215671256A= | CA1220372212 | USH2A | c.13849T= (p.Cys4617=) | |
| 1 | g.215671256A>C | CA344841860 | USH2A | c.13849T>G (p.Cys4617Gly) | dbSNP |
| 1 | g.215671256A>G | CA344841864 | USH2A | c.13849T>C (p.Cys4617Arg) | |
| 1 | g.215671256A>T | CA344841862 | USH2A | c.13849T>A (p.Cys4617Ser) | |
| 1 | g.215671257T>A | CA423426573 | USH2A | c.13848A>T (p.Gly4616=) | |
| 1 | g.215671257T>C | CA423426575 | USH2A | c.13848A>G (p.Gly4616=) | gnomAD v4 |
| 1 | g.215671257T>G | CA423426577 | USH2A | c.13848A>C (p.Gly4616=) | |
| 1 | g.215671257T= | CA1220372213 | USH2A | c.13848A= (p.Gly4616=) | |
| 1 | g.215671258C>A | CA270143 | USH2A | c.13847G>T (p.Gly4616Val) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215671258C= | CA1144233400 | USH2A | c.13847G= (p.Gly4616=) | |
| 1 | g.215671258C>G | CA344841869 | USH2A | c.13847G>C (p.Gly4616Ala) | |
| 1 | g.215671258C>T | CA344841872 | USH2A | c.13847G>A (p.Gly4616Glu) | |
| 1 | g.215671258_215671260delinsCCC | CA1140592563 | USH2A | c.13845_13847delinsGGG (p.Leu4615=) | |
| 1 | g.215671260dup | CA37410249 | USH2A | c.13847dup (p.Cys4617MetfsTer5) | dbSNP |
| 1 | g.215671259C>A | CA344841876 | USH2A | c.13846G>T (p.Gly4616Ter) | |
| 1 | g.215671259C>G | CA344841880 | USH2A | c.13846G>C (p.Gly4616Arg) | |
| 1 | g.215671259C>T | CA344841882 | USH2A | c.13846G>A (p.Gly4616Arg) | gnomAD v4 |