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.216324137_216324142delinsTATTAA | CA1220652416 | USH2A | c.1328+26_1328+31delinsTTAATA (n.1328+26_1328+31delinsTTAATA) | |
| 1 | g.216324143_216324147del | CA731446541 | USH2A | c.1328+26_1328+30del (n.1328+26_1328+30del) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216324141_216324145delinsAAATT | CA1220652418 | USH2A | c.1328+23_1328+27delinsAATTT (n.1328+23_1328+27delinsAATTT) | |
| 1 | g.216324146_216324149del | CA1220652419 | USH2A | c.1328+23_1328+26del (n.1328+23_1328+26del) | dbSNP gnomAD v4 |
| 1 | g.216324145T>C | CA2650501411 | USH2A | c.1328+23A>G (n.1328+23A>G) | gnomAD v4 |
| 1 | g.216324145T>G | CA37898298 | USH2A | c.1328+23A>C (n.1328+23A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216324145T= | CA1220652420 | USH2A | c.1328+23A= (n.1328+23A=) | |
| 1 | g.216324146A>G | CA2574133696 | USH2A | c.1328+22T>C (n.1328+22T>C) | gnomAD v4 |
| 1 | g.216324147A= | CA1220652421 | USH2A | c.1328+21T= (n.1328+21T=) | |
| 1 | g.216324147A>G | CA1220652422 | USH2A | c.1328+21T>C (n.1328+21T>C) | dbSNP |
| 1 | g.216324149T>C | CA529004281 | USH2A | c.1328+19A>G (n.1328+19A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216324149T= | CA1220652423 | USH2A | c.1328+19A= (n.1328+19A=) | |
| 1 | g.216324150G>T | CA2650501412 | USH2A | c.1328+18C>A (n.1328+18C>A) | ClinVar gnomAD v4 |
| 1 | g.216324151T>C | CA529004282 | USH2A | c.1328+17A>G (n.1328+17A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216324151T= | CA1220652424 | USH2A | c.1328+17A= (n.1328+17A=) | |
| 1 | g.216324152T>C | CA2747737983 | USH2A | c.1328+16A>G (n.1328+16A>G) | |
| 1 | g.216324153_216324154delinsTA | CA1220652425 | USH2A | c.1328+14_1328+15delinsTA (n.1328+14_1328+15delinsTA) | |
| 1 | g.216324154A>G | CA2650501413 | USH2A | c.1328+14T>C (n.1328+14T>C) | gnomAD v4 |
| 1 | g.216324158del | CA1220652426 | USH2A | c.1328+14del (n.1328+14del) | dbSNP gnomAD v4 |
| 1 | g.216324157A>C | CA2650501414 | USH2A | c.1328+11T>G (n.1328+11T>G) | gnomAD v4 |
| 1 | g.216324159del | CA2650501415 | USH2A | c.1328+9del (n.1328+9del) | gnomAD v4 |
| 1 | g.216324159T>G | CA1220652428 | USH2A | c.1328+9A>C (n.1328+9A>C) | dbSNP |
| 1 | g.216324159T= | CA1220652427 | USH2A | c.1328+9A= (n.1328+9A=) | |
| 1 | g.216324160A>G | CA2573132653 | USH2A | c.1328+8T>C (n.1328+8T>C) | ClinVar dbSNP gnomAD v4 |
| 1 | g.216324161T>A | CA2739275697 | USH2A | c.1328+7A>T (n.1328+7A>T) | ClinVar |
| 1 | g.216324164A= | CA1220652429 | USH2A | c.1328+4T= (n.1328+4T=) | |
| 1 | g.216324164A>G | CA1220652430 | USH2A | c.1328+4T>C (n.1328+4T>C) | dbSNP gnomAD v4 |
| 1 | g.216324165T>C | CA2650501416 | USH2A | c.1328+3A>G (n.1328+3A>G) | gnomAD v4 |
| 1 | g.216324166A>C | CA344911315 | USH2A | c.1328+2T>G (n.1328+2T>G) | |
| 1 | g.216324166A>G | CA344911316 | USH2A | c.1328+2T>C (n.1328+2T>C) | |
| 1 | g.216324166A>T | CA344911317 | USH2A | c.1328+2T>A (n.1328+2T>A) | |
| 1 | g.216324167C>A | CA344911318 | USH2A | c.1328+1G>T (n.1328+1G>T) | |
| 1 | g.216324167C>G | CA344911319 | USH2A | c.1328+1G>C (n.1328+1G>C) | ClinVar |
| 1 | g.216324167C>T | CA344911320 | USH2A | c.1328+1G>A (n.1328+1G>A) | gnomAD v4 |
| 1 | g.216324168T>A | CA344911321 | USH2A | c.1328A>T (p.Asn443Ile) | |
| 1 | g.216324168T>C | CA344911322 | USH2A | c.1328A>G (p.Asn443Ser) | dbSNP gnomAD v4 |
| 1 | g.216324168T>G | CA344911323 | USH2A | c.1328A>C (p.Asn443Thr) | |
| 1 | g.216324168T= | CA1220652431 | USH2A | c.1328A= (p.Asn443=) | |
| 1 | g.216324169T>A | CA344911324 | USH2A | c.1327A>T (p.Asn443Tyr) | |
| 1 | g.216324169T>C | CA10609866 | USH2A | c.1327A>G (p.Asn443Asp) | ClinVar dbSNP |
| 1 | g.216324169T>G | CA1396554 | USH2A | c.1327A>C (p.Asn443His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216324169T= | CA1220652432 | USH2A | c.1327A= (p.Asn443=) | |
| 1 | g.216324169_216324184dup | CA731446559 | USH2A | c.1312_1327dup (p.Asn443MetfsTer18) | ClinVar dbSNP |
| 1 | g.216324170G>A | CA37898303 | USH2A | c.1326C>T (p.Ser442=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216324170G>C | CA423397831 | USH2A | c.1326C>G (p.Ser442=) | |
| 1 | g.216324170G= | CA1220652433 | USH2A | c.1326C= (p.Ser442=) | |
| 1 | g.216324170G>T | CA423397830 | USH2A | c.1326C>A (p.Ser442=) | |
| 1 | g.216324171G>A | CA1396555 | USH2A | c.1325C>T (p.Ser442Phe) | dbSNP ExAC gnomAD v2 |
| 1 | g.216324171G>C | CA344911325 | USH2A | c.1325C>G (p.Ser442Cys) | |
| 1 | g.216324171G= | CA1220652434 | USH2A | c.1325C= (p.Ser442=) | |
| 1 | g.216324171G>T | CA344911326 | USH2A | c.1325C>A (p.Ser442Tyr) | gnomAD v4 |
| 1 | g.216324172A>C | CA344911328 | USH2A | c.1324T>G (p.Ser442Ala) | |
| 1 | g.216324172A>G | CA344911330 | USH2A | c.1324T>C (p.Ser442Pro) | |
| 1 | g.216324172A>T | CA344911332 | USH2A | c.1324T>A (p.Ser442Thr) | |
| 1 | g.216324174del | CA2586968399 | USH2A | c.1324del (p.Ser442ProfsTer16) | |
| 1 | g.216324173A>C | CA423397832 | USH2A | c.1323T>G (p.Leu441=) | |
| 1 | g.216324173A>G | CA423397833 | USH2A | c.1323T>C (p.Leu441=) | |
| 1 | g.216324173A>T | CA423397834 | USH2A | c.1323T>A (p.Leu441=) | |
| 1 | g.216324174A>C | CA344911334 | USH2A | c.1322T>G (p.Leu441Arg) | |
| 1 | g.216324174A>G | CA344911336 | USH2A | c.1322T>C (p.Leu441Pro) | |
| 1 | g.216324174A>T | CA344911338 | USH2A | c.1322T>A (p.Leu441His) | |
| 1 | g.216324175G>A | CA344911340 | USH2A | c.1321C>T (p.Leu441Phe) | |
| 1 | g.216324175G>C | CA344911342 | USH2A | c.1321C>G (p.Leu441Val) | |
| 1 | g.216324175G>T | CA344911343 | USH2A | c.1321C>A (p.Leu441Ile) | gnomAD v4 |
| 1 | g.216324176C>A | CA344911346 | USH2A | c.1320G>T (p.Gln440His) | |
| 1 | g.216324176C>G | CA344911347 | USH2A | c.1320G>C (p.Gln440His) | |
| 1 | g.216324176C>T | CA423397835 | USH2A | c.1320G>A (p.Gln440=) | COSMIC COSMIC COSMIC |
| 1 | g.216324177T>A | CA344911353 | USH2A | c.1319A>T (p.Gln440Leu) | |
| 1 | g.216324177T>C | CA344911352 | USH2A | c.1319A>G (p.Gln440Arg) | |
| 1 | g.216324177T>G | CA344911350 | USH2A | c.1319A>C (p.Gln440Pro) | |
| 1 | g.216324178G>A | CA344911355 | USH2A | c.1318C>T (p.Gln440Ter) | |
| 1 | g.216324178G>C | CA344911357 | USH2A | c.1318C>G (p.Gln440Glu) | |
| 1 | g.216324178G>T | CA344911358 | USH2A | c.1318C>A (p.Gln440Lys) | |
| 1 | g.216324179A>C | CA423397836 | USH2A | c.1317T>G (p.Leu439=) | |
| 1 | g.216324179A>G | CA423397837 | USH2A | c.1317T>C (p.Leu439=) | |
| 1 | g.216324179A>T | CA423397838 | USH2A | c.1317T>A (p.Leu439=) | |
| 1 | g.216324180A= | CA1220652435 | USH2A | c.1316T= (p.Leu439=) | |
| 1 | g.216324180A>C | CA344911361 | USH2A | c.1316T>G (p.Leu439Arg) | |
| 1 | g.216324180A>G | CA344911363 | USH2A | c.1316T>C (p.Leu439Pro) | ClinVar dbSNP |
| 1 | g.216324180A>T | CA344911364 | USH2A | c.1316T>A (p.Leu439His) | |
| 1 | g.216324181G>A | CA344911369 | USH2A | c.1315C>T (p.Leu439Phe) | gnomAD v4 |
| 1 | g.216324181G>C | CA344911367 | USH2A | c.1315C>G (p.Leu439Val) | |
| 1 | g.216324181G>T | CA344911368 | USH2A | c.1315C>A (p.Leu439Ile) | |
| 1 | g.216324182A>C | CA344911372 | USH2A | c.1314T>G (p.Cys438Trp) | |
| 1 | g.216324182A>G | CA423397839 | USH2A | c.1314T>C (p.Cys438=) | |
| 1 | g.216324182A>T | CA344911373 | USH2A | c.1314T>A (p.Cys438Ter) | |
| 1 | g.216324183C>A | CA344911375 | USH2A | c.1313G>T (p.Cys438Phe) | |
| 1 | g.216324183C= | CA1220652436 | USH2A | c.1313G= (p.Cys438=) | |
| 1 | g.216324183C>G | CA344911377 | USH2A | c.1313G>C (p.Cys438Ser) | |
| 1 | g.216324183C>T | CA344911379 | USH2A | c.1313G>A (p.Cys438Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216324184A>C | CA344911381 | USH2A | c.1312T>G (p.Cys438Gly) | |
| 1 | g.216324184A>G | CA344911384 | USH2A | c.1312T>C (p.Cys438Arg) | |
| 1 | g.216324184A>T | CA344911383 | USH2A | c.1312T>A (p.Cys438Ser) | ClinVar dbSNP |
| 1 | g.216324185G>A | CA423397840 | USH2A | c.1311C>T (p.Asn437=) | |
| 1 | g.216324185G>C | CA344911386 | USH2A | c.1311C>G (p.Asn437Lys) | |
| 1 | g.216324185G>T | CA344911388 | USH2A | c.1311C>A (p.Asn437Lys) | |
| 1 | g.216324186T>A | CA344911390 | USH2A | c.1310A>T (p.Asn437Ile) | |
| 1 | g.216324186T>C | CA344911392 | USH2A | c.1310A>G (p.Asn437Ser) | gnomAD v4 |
| 1 | g.216324186T>G | CA344911393 | USH2A | c.1310A>C (p.Asn437Thr) | |
| 1 | g.216324187T>A | CA344911395 | USH2A | c.1309A>T (p.Asn437Tyr) | |
| 1 | g.216324187T>C | CA344911397 | USH2A | c.1309A>G (p.Asn437Asp) | |
| 1 | g.216324187T>G | CA344911399 | USH2A | c.1309A>C (p.Asn437His) | |
| 1 | g.216324188G>A | CA423397841 | USH2A | c.1308C>T (p.Val436=) | |
| 1 | g.216324188G>C | CA423397842 | USH2A | c.1308C>G (p.Val436=) | |
| 1 | g.216324188G>T | CA423397843 | USH2A | c.1308C>A (p.Val436=) | |
| 1 | g.216324189A= | CA1220652437 | USH2A | c.1307T= (p.Val436=) | |
| 1 | g.216324189A>C | CA344911401 | USH2A | c.1307T>G (p.Val436Gly) | |
| 1 | g.216324189A>G | CA344911402 | USH2A | c.1307T>C (p.Val436Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216324189A>T | CA344911403 | USH2A | c.1307T>A (p.Val436Asp) | |
| 1 | g.216324190C>A | CA344911407 | USH2A | c.1306G>T (p.Val436Phe) | |
| 1 | g.216324190C>G | CA344911409 | USH2A | c.1306G>C (p.Val436Leu) | |
| 1 | g.216324190C>T | CA344911406 | USH2A | c.1306G>A (p.Val436Ile) | |
| 1 | g.216324191A>C | CA423397846 | USH2A | c.1305T>G (p.Ser435=) | ClinVar |
| 1 | g.216324191A>G | CA423397845 | USH2A | c.1305T>C (p.Ser435=) | |
| 1 | g.216324191A>T | CA423397844 | USH2A | c.1305T>A (p.Ser435=) | |
| 1 | g.216324192G>A | CA344911414 | USH2A | c.1304C>T (p.Ser435Phe) | gnomAD v4 |
| 1 | g.216324192G>C | CA344911411 | USH2A | c.1304C>G (p.Ser435Cys) | gnomAD v4 |
| 1 | g.216324192G>T | CA344911415 | USH2A | c.1304C>A (p.Ser435Tyr) | |
| 1 | g.216324193A>C | CA344911417 | USH2A | c.1303T>G (p.Ser435Ala) | |
| 1 | g.216324193A>G | CA344911420 | USH2A | c.1303T>C (p.Ser435Pro) | |
| 1 | g.216324193A>T | CA344911421 | USH2A | c.1303T>A (p.Ser435Thr) | |
| 1 | g.216324194A>C | CA344911424 | USH2A | c.1302T>G (p.Asp434Glu) | |
| 1 | g.216324194A>G | CA423397847 | USH2A | c.1302T>C (p.Asp434=) | |
| 1 | g.216324194A>T | CA344911428 | USH2A | c.1302T>A (p.Asp434Glu) | |
| 1 | g.216324195T>A | CA344911434 | USH2A | c.1301A>T (p.Asp434Val) | |
| 1 | g.216324195T>C | CA344911433 | USH2A | c.1301A>G (p.Asp434Gly) | |
| 1 | g.216324195T>G | CA344911431 | USH2A | c.1301A>C (p.Asp434Ala) | |
| 1 | g.216324196C>A | CA344911437 | USH2A | c.1300G>T (p.Asp434Tyr) | COSMIC COSMIC COSMIC |
| 1 | g.216324196C= | CA1220652438 | USH2A | c.1300G= (p.Asp434=) | |
| 1 | g.216324196C>G | CA344911438 | USH2A | c.1300G>C (p.Asp434His) | |
| 1 | g.216324196C>T | CA37898307 | USH2A | c.1300G>A (p.Asp434Asn) | dbSNP |
| 1 | g.216324197A= | CA1220652439 | USH2A | c.1299T= (p.Pro433=) | |
| 1 | g.216324197A>C | CA423397848 | USH2A | c.1299T>G (p.Pro433=) | |
| 1 | g.216324197A>G | CA423397849 | USH2A | c.1299T>C (p.Pro433=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.216324197A>T | CA423397850 | USH2A | c.1299T>A (p.Pro433=) | |
| 1 | g.216324198G>A | CA344911439 | USH2A | c.1298C>T (p.Pro433Leu) | gnomAD v4 |
| 1 | g.216324198G>C | CA344911440 | USH2A | c.1298C>G (p.Pro433Arg) | |
| 1 | g.216324198G= | CA1220652440 | USH2A | c.1298C= (p.Pro433=) | |
| 1 | g.216324198G>T | CA344911441 | USH2A | c.1298C>A (p.Pro433His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216324199G>A | CA1396556 | USH2A | c.1297C>T (p.Pro433Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216324199G>C | CA344911442 | USH2A | c.1297C>G (p.Pro433Ala) | |
| 1 | g.216324199G= | CA1141687445 | USH2A | c.1297C= (p.Pro433=) | |
| 1 | g.216324199G>T | CA344911444 | USH2A | c.1297C>A (p.Pro433Thr) | |
| 1 | g.216324200T>A | CA344911447 | USH2A | c.1296A>T (p.Lys432Asn) | |
| 1 | g.216324200T>C | CA423397851 | USH2A | c.1296A>G (p.Lys432=) | |
| 1 | g.216324200T>G | CA344911448 | USH2A | c.1296A>C (p.Lys432Asn) | |
| 1 | g.216324201T>A | CA344911450 | USH2A | c.1295A>T (p.Lys432Ile) | |
| 1 | g.216324201T>C | CA344911452 | USH2A | c.1295A>G (p.Lys432Arg) | |
| 1 | g.216324201T>G | CA344911454 | USH2A | c.1295A>C (p.Lys432Thr) | |
| 1 | g.216324202T>A | CA344911455 | USH2A | c.1294A>T (p.Lys432Ter) | |
| 1 | g.216324202T>C | CA344911457 | USH2A | c.1294A>G (p.Lys432Glu) | |
| 1 | g.216324202T>G | CA344911458 | USH2A | c.1294A>C (p.Lys432Gln) | gnomAD v4 |
| 1 | g.216324203T>A | CA344911460 | USH2A | c.1293A>T (p.Glu431Asp) | |
| 1 | g.216324203T>C | CA423397852 | USH2A | c.1293A>G (p.Glu431=) | |
| 1 | g.216324203T>G | CA344911462 | USH2A | c.1293A>C (p.Glu431Asp) | |
| 1 | g.216324204T>A | CA344911464 | USH2A | c.1292A>T (p.Glu431Val) | |
| 1 | g.216324204T>C | CA344911466 | USH2A | c.1292A>G (p.Glu431Gly) | |
| 1 | g.216324204T>G | CA344911468 | USH2A | c.1292A>C (p.Glu431Ala) | |
| 1 | g.216324205C>A | CA344911470 | USH2A | c.1291G>T (p.Glu431Ter) | |
| 1 | g.216324205C>G | CA344911472 | USH2A | c.1291G>C (p.Glu431Gln) | |
| 1 | g.216324205C>T | CA344911471 | USH2A | c.1291G>A (p.Glu431Lys) | COSMIC COSMIC COSMIC |
| 1 | g.216324206C>A | CA344911473 | USH2A | c.1290G>T (p.Leu430Phe) | |
| 1 | g.216324206C>G | CA344911474 | USH2A | c.1290G>C (p.Leu430Phe) | |
| 1 | g.216324206C>T | CA423397853 | USH2A | c.1290G>A (p.Leu430=) | |
| 1 | g.216324207A>C | CA344911476 | USH2A | c.1289T>G (p.Leu430Trp) | |
| 1 | g.216324207A>G | CA344911478 | USH2A | c.1289T>C (p.Leu430Ser) | |
| 1 | g.216324207A>T | CA344911480 | USH2A | c.1289T>A (p.Leu430Ter) | |
| 1 | g.216324208A>C | CA344911481 | USH2A | c.1288T>G (p.Leu430Val) | |
| 1 | g.216324208A>G | CA423397854 | USH2A | c.1288T>C (p.Leu430=) | |
| 1 | g.216324208A>T | CA344911486 | USH2A | c.1288T>A (p.Leu430Met) | |
| 1 | g.216324209A>C | CA344911488 | USH2A | c.1287T>G (p.Asp429Glu) | |
| 1 | g.216324209A>G | CA423397855 | USH2A | c.1287T>C (p.Asp429=) | |
| 1 | g.216324209A>T | CA344911489 | USH2A | c.1287T>A (p.Asp429Glu) | |
| 1 | g.216324210T>A | CA344911491 | USH2A | c.1286A>T (p.Asp429Val) | |
| 1 | g.216324210T>C | CA344911493 | USH2A | c.1286A>G (p.Asp429Gly) | |
| 1 | g.216324210T>G | CA344911494 | USH2A | c.1286A>C (p.Asp429Ala) | |
| 1 | g.216324211C>A | CA344911499 | USH2A | c.1285G>T (p.Asp429Tyr) | |
| 1 | g.216324211C>G | CA344911496 | USH2A | c.1285G>C (p.Asp429His) | |
| 1 | g.216324211C>T | CA344911497 | USH2A | c.1285G>A (p.Asp429Asn) | gnomAD v4 |
| 1 | g.216324212T>A | CA423397856 | USH2A | c.1284A>T (p.Gly428=) | gnomAD v4 |
| 1 | g.216324212T>C | CA423397858 | USH2A | c.1284A>G (p.Gly428=) | gnomAD v4 |
| 1 | g.216324212T>G | CA423397857 | USH2A | c.1284A>C (p.Gly428=) | gnomAD v4 |
| 1 | g.216324213C>A | CA344911501 | USH2A | c.1283G>T (p.Gly428Val) | |
| 1 | g.216324213C= | CA1143403951 | USH2A | c.1283G= (p.Gly428=) | |
| 1 | g.216324213C>G | CA344911502 | USH2A | c.1283G>C (p.Gly428Ala) | |
| 1 | g.216324213C>T | CA1396557 | USH2A | c.1283G>A (p.Gly428Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216324214C>A | CA344911507 | USH2A | c.1282G>T (p.Gly428Ter) | |
| 1 | g.216324214C>G | CA344911509 | USH2A | c.1282G>C (p.Gly428Arg) | |
| 1 | g.216324214C>T | CA344911511 | USH2A | c.1282G>A (p.Gly428Arg) | |
| 1 | g.216324215A= | CA1220652441 | USH2A | c.1281T= (p.Asn427=) | |
| 1 | g.216324215A>C | CA344911512 | USH2A | c.1281T>G (p.Asn427Lys) | |
| 1 | g.216324215A>G | CA423397859 | USH2A | c.1281T>C (p.Asn427=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216324215A>T | CA344911514 | USH2A | c.1281T>A (p.Asn427Lys) | |
| 1 | g.216324216T>A | CA344911517 | USH2A | c.1280A>T (p.Asn427Ile) | |
| 1 | g.216324216T>C | CA344911518 | USH2A | c.1280A>G (p.Asn427Ser) | dbSNP gnomAD v4 |
| 1 | g.216324216T>G | CA344911519 | USH2A | c.1280A>C (p.Asn427Thr) | |
| 1 | g.216324216T= | CA1220652442 | USH2A | c.1280A= (p.Asn427=) | |
| 1 | g.216324216_216324217del | CA2695200018 | USH2A | c.1279_1280del (p.Asn427TrpfsTer7) | ClinVar |
| 1 | g.216324217T>A | CA344911525 | USH2A | c.1279A>T (p.Asn427Tyr) | gnomAD v4 |
| 1 | g.216324217T>C | CA344911523 | USH2A | c.1279A>G (p.Asn427Asp) | |
| 1 | g.216324217T>G | CA344911522 | USH2A | c.1279A>C (p.Asn427His) | |
| 1 | g.216324218G>A | CA423397860 | USH2A | c.1278C>T (p.Asn426=) | |
| 1 | g.216324218G>C | CA344911528 | USH2A | c.1278C>G (p.Asn426Lys) | |
| 1 | g.216324218G= | CA1220652443 | USH2A | c.1278C= (p.Asn426=) | |
| 1 | g.216324218G>T | CA344911529 | USH2A | c.1278C>A (p.Asn426Lys) | dbSNP gnomAD v2 |
| 1 | g.216324219T>A | CA344911530 | USH2A | c.1277A>T (p.Asn426Ile) | |
| 1 | g.216324219T>C | CA1396558 | USH2A | c.1277A>G (p.Asn426Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216324219T>G | CA344911532 | USH2A | c.1277A>C (p.Asn426Thr) | |
| 1 | g.216324219T= | CA1220652444 | USH2A | c.1277A= (p.Asn426=) | |
| 1 | g.216324223dup | CA916082150 | USH2A | c.1277dup (p.Asn426LysfsTer9) | ClinVar dbSNP gnomAD v4 |
| 1 | g.216324220T>A | CA344911534 | USH2A | c.1276A>T (p.Asn426Tyr) | |
| 1 | g.216324220T>C | CA344911536 | USH2A | c.1276A>G (p.Asn426Asp) | |
| 1 | g.216324220T>G | CA344911537 | USH2A | c.1276A>C (p.Asn426His) | |
| 1 | g.216324221T>A | CA344911544 | USH2A | c.1275A>T (p.Lys425Asn) | |
| 1 | g.216324221T>C | CA423397861 | USH2A | c.1275A>G (p.Lys425=) | |
| 1 | g.216324221T>G | CA344911539 | USH2A | c.1275A>C (p.Lys425Asn) | |
| 1 | g.216324222T>A | CA344911545 | USH2A | c.1274A>T (p.Lys425Ile) | |
| 1 | g.216324222T>C | CA344911547 | USH2A | c.1274A>G (p.Lys425Arg) | |
| 1 | g.216324222T>G | CA344911549 | USH2A | c.1274A>C (p.Lys425Thr) | |
| 1 | g.216324223T>A | CA344911551 | USH2A | c.1273A>T (p.Lys425Ter) | |
| 1 | g.216324223T>C | CA344911553 | USH2A | c.1273A>G (p.Lys425Glu) | gnomAD v4 |
| 1 | g.216324223T>G | CA344911555 | USH2A | c.1273A>C (p.Lys425Gln) | |
| 1 | g.216324224C>A | CA344911557 | USH2A | c.1272G>T (p.Met424Ile) | |
| 1 | g.216324224C>G | CA344911560 | USH2A | c.1272G>C (p.Met424Ile) | |
| 1 | g.216324224C>T | CA344911559 | USH2A | c.1272G>A (p.Met424Ile) | |
| 1 | g.216324225del | CA2586968400 | USH2A | c.1271del (p.Met424ArgfsTer?) | |
| 1 | g.216324225A>C | CA344911561 | USH2A | c.1271T>G (p.Met424Arg) | |
| 1 | g.216324225A>G | CA344911562 | USH2A | c.1271T>C (p.Met424Thr) | |
| 1 | g.216324225A>T | CA344911563 | USH2A | c.1271T>A (p.Met424Lys) | |
| 1 | g.216324226T>A | CA344911564 | USH2A | c.1270A>T (p.Met424Leu) | ClinVar dbSNP |
| 1 | g.216324226T>C | CA344911566 | USH2A | c.1270A>G (p.Met424Val) | |
| 1 | g.216324226T>G | CA344911567 | USH2A | c.1270A>C (p.Met424Leu) | |
| 1 | g.216324227T>A | CA423397862 | USH2A | c.1269A>T (p.Gly423=) | |
| 1 | g.216324227T>C | CA1396559 | USH2A | c.1269A>G (p.Gly423=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216324227T>G | CA423397863 | USH2A | c.1269A>C (p.Gly423=) | |
| 1 | g.216324227T= | CA1146571727 | USH2A | c.1269A= (p.Gly423=) | |
| 1 | g.216324228C>A | CA344911569 | USH2A | c.1268G>T (p.Gly423Val) | |
| 1 | g.216324228C= | CA1220652445 | USH2A | c.1268G= (p.Gly423=) | |
| 1 | g.216324228C>G | CA344911571 | USH2A | c.1268G>C (p.Gly423Ala) | gnomAD v4 |
| 1 | g.216324228C>T | CA1396560 | USH2A | c.1268G>A (p.Gly423Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216324229C>A | CA344911578 | USH2A | c.1267G>T (p.Gly423Ter) | ClinVar |
| 1 | g.216324229C= | CA1220652446 | USH2A | c.1267G= (p.Gly423=) | |
| 1 | g.216324229C>G | CA344911577 | USH2A | c.1267G>C (p.Gly423Arg) | gnomAD v4 |
| 1 | g.216324229C>T | CA344911576 | USH2A | c.1267G>A (p.Gly423Arg) | dbSNP gnomAD v4 |
| 1 | g.216324230A>C | CA344911579 | USH2A | c.1266T>G (p.Phe422Leu) | |
| 1 | g.216324230A>G | CA423397864 | USH2A | c.1266T>C (p.Phe422=) | |
| 1 | g.216324230A>T | CA344911580 | USH2A | c.1266T>A (p.Phe422Leu) | |
| 1 | g.216324231A>C | CA344911582 | USH2A | c.1265T>G (p.Phe422Cys) | |
| 1 | g.216324231A>G | CA344911584 | USH2A | c.1265T>C (p.Phe422Ser) | |
| 1 | g.216324231A>T | CA344911586 | USH2A | c.1265T>A (p.Phe422Tyr) | |
| 1 | g.216324232A>C | CA344911591 | USH2A | c.1264T>G (p.Phe422Val) | |
| 1 | g.216324232A>G | CA344911596 | USH2A | c.1264T>C (p.Phe422Leu) | |
| 1 | g.216324232A>T | CA344911598 | USH2A | c.1264T>A (p.Phe422Ile) | |
| 1 | g.216324233A>C | CA423397867 | USH2A | c.1263T>G (p.Ala421=) | |
| 1 | g.216324233A>G | CA423397866 | USH2A | c.1263T>C (p.Ala421=) | |
| 1 | g.216324233A>T | CA423397865 | USH2A | c.1263T>A (p.Ala421=) | |
| 1 | g.216324234G>A | CA344911600 | USH2A | c.1262C>T (p.Ala421Val) | |
| 1 | g.216324234G>C | CA344911602 | USH2A | c.1262C>G (p.Ala421Gly) | |
| 1 | g.216324234G>T | CA344911603 | USH2A | c.1262C>A (p.Ala421Asp) | |
| 1 | g.216324234_216324237delinsGCAC | CA1220652447 | USH2A | c.1259_1262delinsGTGC (p.Gly420=) | |
| 1 | g.216324235C>A | CA344911606 | USH2A | c.1261G>T (p.Ala421Ser) | |
| 1 | g.216324235C= | CA1220652448 | USH2A | c.1261G= (p.Ala421=) | |
| 1 | g.216324235C>G | CA344911607 | USH2A | c.1261G>C (p.Ala421Pro) | |
| 1 | g.216324235C>T | CA1396562 | USH2A | c.1261G>A (p.Ala421Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216324238_216324240del | CA1396561 | USH2A | c.1259_1261del (p.Gly420del) | dbSNP ExAC gnomAD v4 |
| 1 | g.216324236A>C | CA423397870 | USH2A | c.1260T>G (p.Gly420=) | |
| 1 | g.216324236A>G | CA423397869 | USH2A | c.1260T>C (p.Gly420=) | ClinVar gnomAD v4 |
| 1 | g.216324236A>T | CA423397868 | USH2A | c.1260T>A (p.Gly420=) | |
| 1 | g.216324237C>A | CA344911610 | USH2A | c.1259G>T (p.Gly420Val) | gnomAD v4 |
| 1 | g.216324237C= | CA1220652449 | USH2A | c.1259G= (p.Gly420=) | |
| 1 | g.216324237C>G | CA344911612 | USH2A | c.1259G>C (p.Gly420Ala) | |
| 1 | g.216324237C>T | CA1396563 | USH2A | c.1259G>A (p.Gly420Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216324238C>A | CA344911614 | USH2A | c.1258G>T (p.Gly420Cys) | |
| 1 | g.216324238C= | CA1220652450 | USH2A | c.1258G= (p.Gly420=) | |
| 1 | g.216324238C>G | CA344911616 | USH2A | c.1258G>C (p.Gly420Arg) | |
| 1 | g.216324238C>T | CA344911618 | USH2A | c.1258G>A (p.Gly420Ser) | ClinVar dbSNP gnomAD v4 |
| 1 | g.216324239A>C | CA344911619 | USH2A | c.1257T>G (p.Cys419Trp) | |
| 1 | g.216324239A>G | CA423397872 | USH2A | c.1257T>C (p.Cys419=) | |
| 1 | g.216324239A>T | CA344911620 | USH2A | c.1257T>A (p.Cys419Ter) | |
| 1 | g.216324240C>A | CA252239 | USH2A | c.1256G>T (p.Cys419Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216324240C= | CA1141581514 | USH2A | c.1256G= (p.Cys419=) | |
| 1 | g.216324240C>G | CA344911621 | USH2A | c.1256G>C (p.Cys419Ser) | |
| 1 | g.216324240C>T | CA344911622 | USH2A | c.1256G>A (p.Cys419Tyr) | gnomAD v4 |
| 1 | g.216324241A= | CA1220652451 | USH2A | c.1255T= (p.Cys419=) | |
| 1 | g.216324241A>C | CA344911624 | USH2A | c.1255T>G (p.Cys419Gly) | |
| 1 | g.216324241A>G | CA1396564 | USH2A | c.1255T>C (p.Cys419Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216324241A>T | CA344911627 | USH2A | c.1255T>A (p.Cys419Ser) |