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.215671043_215671095del | CA2586968113 | USH2A | c.14010_14062del (p.Glu4671AsnfsTer3) | |
| 1 | g.215671061T>A | CA344840444 | USH2A | c.14044A>T (p.Arg4682Ter) | |
| 1 | g.215671061T>C | CA344840446 | USH2A | c.14044A>G (p.Arg4682Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671061T>G | CA423426293 | USH2A | c.14044A>C (p.Arg4682=) | |
| 1 | g.215671061T= | CA1220372141 | USH2A | c.14044A= (p.Arg4682=) | |
| 1 | g.215671062A>C | CA423426297 | USH2A | c.14043T>G (p.Pro4681=) | |
| 1 | g.215671062A>G | CA423426299 | USH2A | c.14043T>C (p.Pro4681=) | |
| 1 | g.215671062A>T | CA423426301 | USH2A | c.14043T>A (p.Pro4681=) | COSMIC COSMIC |
| 1 | g.215671063G>A | CA344840449 | USH2A | c.14042C>T (p.Pro4681Leu) | gnomAD v4 |
| 1 | g.215671063G>C | CA344840452 | USH2A | c.14042C>G (p.Pro4681Arg) | |
| 1 | g.215671063G>T | CA344840457 | USH2A | c.14042C>A (p.Pro4681His) | |
| 1 | g.215671063_215671065del | CA645519366 | USH2A | c.14040_14042del (p.Gln4680_Pro4681delinsHis) | COSMIC COSMIC |
| 1 | g.215671064G>A | CA344840458 | USH2A | c.14041C>T (p.Pro4681Ser) | |
| 1 | g.215671064G>C | CA344840460 | USH2A | c.14041C>G (p.Pro4681Ala) | |
| 1 | g.215671064G= | CA1220372142 | USH2A | c.14041C= (p.Pro4681=) | |
| 1 | g.215671064G>T | CA344840463 | USH2A | c.14041C>A (p.Pro4681Thr) | dbSNP gnomAD v2 |
| 1 | g.215671065C>A | CA344840471 | USH2A | c.14040G>T (p.Gln4680His) | |
| 1 | g.215671065C>G | CA344840468 | USH2A | c.14040G>C (p.Gln4680His) | |
| 1 | g.215671065C>T | CA423426302 | USH2A | c.14040G>A (p.Gln4680=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215671066T>A | CA344840472 | USH2A | c.14039A>T (p.Gln4680Leu) | |
| 1 | g.215671066T>C | CA344840474 | USH2A | c.14039A>G (p.Gln4680Arg) | |
| 1 | g.215671066T>G | CA344840476 | USH2A | c.14039A>C (p.Gln4680Pro) | |
| 1 | g.215671066_215671067delinsAA | CA645519367 | USH2A | c.14038_14039delinsTT (p.Gln4680Leu) | COSMIC COSMIC |
| 1 | g.215671067G>A | CA344840479 | USH2A | c.14038C>T (p.Gln4680Ter) | ClinVar dbSNP |
| 1 | g.215671067G>C | CA344840483 | USH2A | c.14038C>G (p.Gln4680Glu) | |
| 1 | g.215671067G= | CA1220372143 | USH2A | c.14038C= (p.Gln4680=) | |
| 1 | g.215671067G>T | CA344840493 | USH2A | c.14038C>A (p.Gln4680Lys) | |
| 1 | g.215671068A>C | CA423426308 | USH2A | c.14037T>G (p.Thr4679=) | |
| 1 | g.215671068A>G | CA423426310 | USH2A | c.14037T>C (p.Thr4679=) | |
| 1 | g.215671068A>T | CA423426309 | USH2A | c.14037T>A (p.Thr4679=) | |
| 1 | g.215671069G>A | CA344840502 | USH2A | c.14036C>T (p.Thr4679Ile) | gnomAD v4 |
| 1 | g.215671069G>C | CA344840497 | USH2A | c.14036C>G (p.Thr4679Ser) | |
| 1 | g.215671069G= | CA1220372144 | USH2A | c.14036C= (p.Thr4679=) | |
| 1 | g.215671069G>T | CA1393163 | USH2A | c.14036C>A (p.Thr4679Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671070T>A | CA344840503 | USH2A | c.14035A>T (p.Thr4679Ser) | dbSNP |
| 1 | g.215671070T>C | CA344840505 | USH2A | c.14035A>G (p.Thr4679Ala) | |
| 1 | g.215671070T>G | CA344840509 | USH2A | c.14035A>C (p.Thr4679Pro) | |
| 1 | g.215671070T= | CA1220372145 | USH2A | c.14035A= (p.Thr4679=) | |
| 1 | g.215671071T>A | CA423426315 | USH2A | c.14034A>T (p.Ala4678=) | |
| 1 | g.215671071T>C | CA423426316 | USH2A | c.14034A>G (p.Ala4678=) | |
| 1 | g.215671071T>G | CA423426317 | USH2A | c.14034A>C (p.Ala4678=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671071T= | CA1220372146 | USH2A | c.14034A= (p.Ala4678=) | |
| 1 | g.215671072G>A | CA37410076 | USH2A | c.14033C>T (p.Ala4678Val) | dbSNP gnomAD v4 |
| 1 | g.215671072G>C | CA37410080 | USH2A | c.14033C>G (p.Ala4678Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215671072G= | CA1142076640 | USH2A | c.14033C= (p.Ala4678=) | |
| 1 | g.215671072G>T | CA344840517 | USH2A | c.14033C>A (p.Ala4678Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215671073C>A | CA344840523 | USH2A | c.14032G>T (p.Ala4678Ser) | |
| 1 | g.215671073C= | CA1220372147 | USH2A | c.14032G= (p.Ala4678=) | |
| 1 | g.215671073C>G | CA344840528 | USH2A | c.14032G>C (p.Ala4678Pro) | ClinVar dbSNP |
| 1 | g.215671073C>T | CA344840520 | USH2A | c.14032G>A (p.Ala4678Thr) | gnomAD v4 COSMIC COSMIC |
| 1 | g.215671074T>A | CA423426320 | USH2A | c.14031A>T (p.Ile4677=) | |
| 1 | g.215671074T>C | CA344840531 | USH2A | c.14031A>G (p.Ile4677Met) | |
| 1 | g.215671074T>G | CA423426322 | USH2A | c.14031A>C (p.Ile4677=) | |
| 1 | g.215671074T= | CA1144229157 | USH2A | c.14031A= (p.Ile4677=) | |
| 1 | g.215671074dup | CA262088 | USH2A | c.14031dup (p.Ala4678SerfsTer5) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215671075_215671078del | CA2650500256 | USH2A | c.14028_14031del (p.Ile4677GlnfsTer11) | gnomAD v4 |
| 1 | g.215671075A= | CA1148289665 | USH2A | c.14030T= (p.Ile4677=) | |
| 1 | g.215671075A>C | CA344840533 | USH2A | c.14030T>G (p.Ile4677Arg) | |
| 1 | g.215671075A>G | CA1393164 | USH2A | c.14030T>C (p.Ile4677Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671075A>T | CA344840537 | USH2A | c.14030T>A (p.Ile4677Lys) | |
| 1 | g.215671076T>A | CA344840553 | USH2A | c.14029A>T (p.Ile4677Leu) | gnomAD v4 |
| 1 | g.215671076T>C | CA344840567 | USH2A | c.14029A>G (p.Ile4677Val) | |
| 1 | g.215671076T>G | CA344840556 | USH2A | c.14029A>C (p.Ile4677Leu) | COSMIC COSMIC |
| 1 | g.215671077T>A | CA344840571 | USH2A | c.14028A>T (p.Gln4676His) | |
| 1 | g.215671077T>C | CA423426328 | USH2A | c.14028A>G (p.Gln4676=) | |
| 1 | g.215671077T>G | CA344840574 | USH2A | c.14028A>C (p.Gln4676His) | |
| 1 | g.215671078T>A | CA344840576 | USH2A | c.14027A>T (p.Gln4676Leu) | |
| 1 | g.215671078T>C | CA143332 | USH2A | c.14027A>G (p.Gln4676Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671078T>G | CA344840577 | USH2A | c.14027A>C (p.Gln4676Pro) | |
| 1 | g.215671078T= | CA1144229158 | USH2A | c.14027A= (p.Gln4676=) | |
| 1 | g.215671079G>A | CA344840578 | USH2A | c.14026C>T (p.Gln4676Ter) | |
| 1 | g.215671079G>C | CA344840579 | USH2A | c.14026C>G (p.Gln4676Glu) | |
| 1 | g.215671079G>T | CA344840580 | USH2A | c.14026C>A (p.Gln4676Lys) | |
| 1 | g.215671079dup | CA2586968115 | USH2A | c.14026dup (p.Gln4676ProfsTer7) | |
| 1 | g.215671079_215671094delinsGTCTTCTGTATAATTC | CA1220372148 | USH2A | c.14011_14026delinsGAATTATACAGAAGAC (p.Glu4671=) | |
| 1 | g.215671080T>A | CA344840581 | USH2A | c.14025A>T (p.Arg4675Ser) | |
| 1 | g.215671080T>C | CA423426330 | USH2A | c.14025A>G (p.Arg4675=) | COSMIC COSMIC |
| 1 | g.215671080T>G | CA344840583 | USH2A | c.14025A>C (p.Arg4675Ser) | |
| 1 | g.215671080_215671094del | CA1139656542 | USH2A | c.14011_14025del (p.Glu4671_Arg4675del) | ClinVar dbSNP |
| 1 | g.215671081C>A | CA344840591 | USH2A | c.14024G>T (p.Arg4675Ile) | |
| 1 | g.215671081C= | CA1220372149 | USH2A | c.14024G= (p.Arg4675=) | |
| 1 | g.215671081C>G | CA344840590 | USH2A | c.14024G>C (p.Arg4675Thr) | |
| 1 | g.215671081C>T | CA344840586 | USH2A | c.14024G>A (p.Arg4675Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671082T>A | CA344840593 | USH2A | c.14023A>T (p.Arg4675Ter) | ClinVar dbSNP |
| 1 | g.215671082T>C | CA344840595 | USH2A | c.14023A>G (p.Arg4675Gly) | |
| 1 | g.215671082T>G | CA423426331 | USH2A | c.14023A>C (p.Arg4675=) | |
| 1 | g.215671082T= | CA1220372150 | USH2A | c.14023A= (p.Arg4675=) | |
| 1 | g.215671083T>A | CA344840597 | USH2A | c.14022A>T (p.Arg4674Ser) | |
| 1 | g.215671083T>C | CA423426332 | USH2A | c.14022A>G (p.Arg4674=) | |
| 1 | g.215671083T>G | CA344840599 | USH2A | c.14022A>C (p.Arg4674Ser) | |
| 1 | g.215671084C>A | CA344840603 | USH2A | c.14021G>T (p.Arg4674Ile) | |
| 1 | g.215671084C>G | CA344840605 | USH2A | c.14021G>C (p.Arg4674Thr) | |
| 1 | g.215671084C>T | CA344840608 | USH2A | c.14021G>A (p.Arg4674Lys) | |
| 1 | g.215671085T>A | CA344840611 | USH2A | c.14020A>T (p.Arg4674Ter) | |
| 1 | g.215671085T>C | CA252244 | USH2A | c.14020A>G (p.Arg4674Gly) | ClinVar dbSNP |
| 1 | g.215671085T>G | CA423426334 | USH2A | c.14020A>C (p.Arg4674=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671085T= | CA1141188384 | USH2A | c.14020A= (p.Arg4674=) | |
| 1 | g.215671086G>A | CA423426335 | USH2A | c.14019C>T (p.Tyr4673=) | |
| 1 | g.215671086G>C | CA344840616 | USH2A | c.14019C>G (p.Tyr4673Ter) | gnomAD v4 |
| 1 | g.215671086G= | CA1220372151 | USH2A | c.14019C= (p.Tyr4673=) | |
| 1 | g.215671086G>T | CA344840617 | USH2A | c.14019C>A (p.Tyr4673Ter) | ClinVar dbSNP |
| 1 | g.215671087T>A | CA344840620 | USH2A | c.14018A>T (p.Tyr4673Phe) | |
| 1 | g.215671087T>C | CA344840619 | USH2A | c.14018A>G (p.Tyr4673Cys) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215671087T>G | CA344840618 | USH2A | c.14018A>C (p.Tyr4673Ser) | |
| 1 | g.215671087T= | CA1220372152 | USH2A | c.14018A= (p.Tyr4673=) | |
| 1 | g.215671088A= | CA1220372153 | USH2A | c.14017T= (p.Tyr4673=) | |
| 1 | g.215671088A>C | CA344840622 | USH2A | c.14017T>G (p.Tyr4673Asp) | |
| 1 | g.215671088A>G | CA37410113 | USH2A | c.14017T>C (p.Tyr4673His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671088A>T | CA344840623 | USH2A | c.14017T>A (p.Tyr4673Asn) | |
| 1 | g.215671089T>A | CA344840626 | USH2A | c.14016A>T (p.Leu4672Phe) | |
| 1 | g.215671089T>C | CA423426337 | USH2A | c.14016A>G (p.Leu4672=) | |
| 1 | g.215671089T>G | CA344840627 | USH2A | c.14016A>C (p.Leu4672Phe) | |
| 1 | g.215671093_215671099del | CA2573131550 | USH2A | c.14010_14016del (p.Glu4671ThrfsTer5) | ClinVar dbSNP |
| 1 | g.215671090A>C | CA344840629 | USH2A | c.14015T>G (p.Leu4672Ter) | |
| 1 | g.215671090A>G | CA344840633 | USH2A | c.14015T>C (p.Leu4672Ser) | |
| 1 | g.215671090A>T | CA344840634 | USH2A | c.14015T>A (p.Leu4672Ter) | |
| 1 | g.215671091A>C | CA344840636 | USH2A | c.14014T>G (p.Leu4672Val) | |
| 1 | g.215671091A>G | CA423426340 | USH2A | c.14014T>C (p.Leu4672=) | |
| 1 | g.215671091A>T | CA344840638 | USH2A | c.14014T>A (p.Leu4672Ile) | |
| 1 | g.215671092T>A | CA344840641 | USH2A | c.14013A>T (p.Glu4671Asp) | |
| 1 | g.215671092T>C | CA423426341 | USH2A | c.14013A>G (p.Glu4671=) | |
| 1 | g.215671092T>G | CA344840644 | USH2A | c.14013A>C (p.Glu4671Asp) | |
| 1 | g.215671093T>A | CA344840652 | USH2A | c.14012A>T (p.Glu4671Val) | |
| 1 | g.215671093T>C | CA344840648 | USH2A | c.14012A>G (p.Glu4671Gly) | |
| 1 | g.215671093T>G | CA344840650 | USH2A | c.14012A>C (p.Glu4671Ala) | |
| 1 | g.215671094C>A | CA344840658 | USH2A | c.14011G>T (p.Glu4671Ter) | |
| 1 | g.215671094C= | CA1220372154 | USH2A | c.14011G= (p.Glu4671=) | |
| 1 | g.215671094C>G | CA344840661 | USH2A | c.14011G>C (p.Glu4671Gln) | |
| 1 | g.215671094C>T | CA1393165 | USH2A | c.14011G>A (p.Glu4671Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215671095G>A | CA1393166 | USH2A | c.14010C>T (p.Tyr4670=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215671095G>C | CA344840667 | USH2A | c.14010C>G (p.Tyr4670Ter) | gnomAD v4 |
| 1 | g.215671095G= | CA1220372155 | USH2A | c.14010C= (p.Tyr4670=) | |
| 1 | g.215671095G>T | CA344840673 | USH2A | c.14010C>A (p.Tyr4670Ter) | ClinVar |
| 1 | g.215671096T>A | CA344840676 | USH2A | c.14009A>T (p.Tyr4670Phe) | |
| 1 | g.215671096T>C | CA344840678 | USH2A | c.14009A>G (p.Tyr4670Cys) | |
| 1 | g.215671096T>G | CA344840680 | USH2A | c.14009A>C (p.Tyr4670Ser) | |
| 1 | g.215671097A>C | CA344840686 | USH2A | c.14008T>G (p.Tyr4670Asp) | |
| 1 | g.215671097A>G | CA344840689 | USH2A | c.14008T>C (p.Tyr4670His) | gnomAD v4 |
| 1 | g.215671097A>T | CA344840690 | USH2A | c.14008T>A (p.Tyr4670Asn) | |
| 1 | g.215671098A= | CA1220372156 | USH2A | c.14007T= (p.Tyr4669=) | |
| 1 | g.215671098A>C | CA344840694 | USH2A | c.14007T>G (p.Tyr4669Ter) | |
| 1 | g.215671098A>G | CA423426345 | USH2A | c.14007T>C (p.Tyr4669=) | |
| 1 | g.215671098A>T | CA344840692 | USH2A | c.14007T>A (p.Tyr4669Ter) | ClinVar dbSNP |
| 1 | g.215671099T>A | CA344840697 | USH2A | c.14006A>T (p.Tyr4669Phe) | |
| 1 | g.215671099T>C | CA344840703 | USH2A | c.14006A>G (p.Tyr4669Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671099T>G | CA344840699 | USH2A | c.14006A>C (p.Tyr4669Ser) | |
| 1 | g.215671099T= | CA1220372157 | USH2A | c.14006A= (p.Tyr4669=) | |
| 1 | g.215671100A>C | CA344840704 | USH2A | c.14005T>G (p.Tyr4669Asp) | |
| 1 | g.215671100A>G | CA344840705 | USH2A | c.14005T>C (p.Tyr4669His) | |
| 1 | g.215671100A>T | CA344840707 | USH2A | c.14005T>A (p.Tyr4669Asn) | |
| 1 | g.215671101del | CA2586968117 | USH2A | c.14004del (p.Leu4668PhefsTer10) | |
| 1 | g.215671101C>A | CA344840709 | USH2A | c.14004G>T (p.Leu4668Phe) | |
| 1 | g.215671101C>G | CA344840717 | USH2A | c.14004G>C (p.Leu4668Phe) | |
| 1 | g.215671101C>T | CA423426350 | USH2A | c.14004G>A (p.Leu4668=) | ClinVar dbSNP |
| 1 | g.215671102A>C | CA344840719 | USH2A | c.14003T>G (p.Leu4668Trp) | |
| 1 | g.215671102A>G | CA344840722 | USH2A | c.14003T>C (p.Leu4668Ser) | |
| 1 | g.215671102A>T | CA344840725 | USH2A | c.14003T>A (p.Leu4668Ter) | |
| 1 | g.215671103A>C | CA344840730 | USH2A | c.14002T>G (p.Leu4668Val) | |
| 1 | g.215671103A>G | CA423426351 | USH2A | c.14002T>C (p.Leu4668=) | |
| 1 | g.215671103A>T | CA344840733 | USH2A | c.14002T>A (p.Leu4668Met) | |
| 1 | g.215671104A>C | CA423426352 | USH2A | c.14001T>G (p.Val4667=) | |
| 1 | g.215671104A>G | CA423426353 | USH2A | c.14001T>C (p.Val4667=) | |
| 1 | g.215671104A>T | CA423426354 | USH2A | c.14001T>A (p.Val4667=) | |
| 1 | g.215671105A>C | CA344840738 | USH2A | c.14000T>G (p.Val4667Gly) | |
| 1 | g.215671105A>G | CA344840737 | USH2A | c.14000T>C (p.Val4667Ala) | |
| 1 | g.215671105A>T | CA344840736 | USH2A | c.14000T>A (p.Val4667Asp) | |
| 1 | g.215671105_215671106insGCT | CA2573662646 | USH2A | c.13999_14000insAGC (p.Val4667delinsGluLeu) | |
| 1 | g.215671106C>A | CA344840741 | USH2A | c.13999G>T (p.Val4667Phe) | |
| 1 | g.215671106C= | CA1220372158 | USH2A | c.13999G= (p.Val4667=) | |
| 1 | g.215671106C>G | CA344840742 | USH2A | c.13999G>C (p.Val4667Leu) | dbSNP |
| 1 | g.215671106C>T | CA344840744 | USH2A | c.13999G>A (p.Val4667Ile) | dbSNP gnomAD v4 |
| 1 | g.215671107T>A | CA344840746 | USH2A | c.13998A>T (p.Lys4666Asn) | |
| 1 | g.215671107T>C | CA423426357 | USH2A | c.13998A>G (p.Lys4666=) | |
| 1 | g.215671107T>G | CA344840749 | USH2A | c.13998A>C (p.Lys4666Asn) | |
| 1 | g.215671109_215671110del | CA2650500257 | USH2A | c.13997_13998del (p.Lys4666SerfsTer16) | gnomAD v4 |
| 1 | g.215671108T>A | CA344840751 | USH2A | c.13997A>T (p.Lys4666Ile) | |
| 1 | g.215671108T>C | CA344840753 | USH2A | c.13997A>G (p.Lys4666Arg) | |
| 1 | g.215671108T>G | CA344840757 | USH2A | c.13997A>C (p.Lys4666Thr) | |
| 1 | g.215671109T>A | CA344840758 | USH2A | c.13996A>T (p.Lys4666Ter) | |
| 1 | g.215671109T>C | CA344840761 | USH2A | c.13996A>G (p.Lys4666Glu) | gnomAD v4 |
| 1 | g.215671109T>G | CA344840766 | USH2A | c.13996A>C (p.Lys4666Gln) | |
| 1 | g.215671110T>A | CA423426360 | USH2A | c.13995A>T (p.Gly4665=) | |
| 1 | g.215671110T>C | CA1393167 | USH2A | c.13995A>G (p.Gly4665=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671110T>G | CA423426362 | USH2A | c.13995A>C (p.Gly4665=) | |
| 1 | g.215671110T= | CA1141614105 | USH2A | c.13995A= (p.Gly4665=) | |
| 1 | g.215671111C>A | CA344840774 | USH2A | c.13994G>T (p.Gly4665Val) | |
| 1 | g.215671111C= | CA1220372159 | USH2A | c.13994G= (p.Gly4665=) | |
| 1 | g.215671111C>G | CA344840777 | USH2A | c.13994G>C (p.Gly4665Ala) | |
| 1 | g.215671111C>T | CA344840772 | USH2A | c.13994G>A (p.Gly4665Glu) | dbSNP |
| 1 | g.215671112C>A | CA344840782 | USH2A | c.13993G>T (p.Gly4665Ter) | ClinVar dbSNP |
| 1 | g.215671112C>G | CA344840784 | USH2A | c.13993G>C (p.Gly4665Arg) | |
| 1 | g.215671112C>T | CA344840795 | USH2A | c.13993G>A (p.Gly4665Arg) | gnomAD v4 |
| 1 | g.215671113A>C | CA344840801 | USH2A | c.13992T>G (p.Asn4664Lys) | |
| 1 | g.215671113A>G | CA423426366 | USH2A | c.13992T>C (p.Asn4664=) | |
| 1 | g.215671113A>T | CA344840803 | USH2A | c.13992T>A (p.Asn4664Lys) | |
| 1 | g.215671114T>A | CA344840811 | USH2A | c.13991A>T (p.Asn4664Ile) | |
| 1 | g.215671114T>C | CA344840810 | USH2A | c.13991A>G (p.Asn4664Ser) | |
| 1 | g.215671114T>G | CA344840807 | USH2A | c.13991A>C (p.Asn4664Thr) | |
| 1 | g.215671115T>A | CA344840815 | USH2A | c.13990A>T (p.Asn4664Tyr) | |
| 1 | g.215671115T>C | CA344840829 | USH2A | c.13990A>G (p.Asn4664Asp) | |
| 1 | g.215671115T>G | CA344840830 | USH2A | c.13990A>C (p.Asn4664His) | |
| 1 | g.215671116T>A | CA423426369 | USH2A | c.13989A>T (p.Pro4663=) | |
| 1 | g.215671116T>C | CA423426370 | USH2A | c.13989A>G (p.Pro4663=) | |
| 1 | g.215671116T>G | CA423426371 | USH2A | c.13989A>C (p.Pro4663=) | |
| 1 | g.215671117G>A | CA344840834 | USH2A | c.13988C>T (p.Pro4663Leu) | |
| 1 | g.215671117G>C | CA344840837 | USH2A | c.13988C>G (p.Pro4663Arg) | |
| 1 | g.215671117G>T | CA344840845 | USH2A | c.13988C>A (p.Pro4663Gln) | |
| 1 | g.215671118G>A | CA344840847 | USH2A | c.13987C>T (p.Pro4663Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215671118G>C | CA344840852 | USH2A | c.13987C>G (p.Pro4663Ala) | |
| 1 | g.215671118G= | CA1220372160 | USH2A | c.13987C= (p.Pro4663=) | |
| 1 | g.215671118G>T | CA344840850 | USH2A | c.13987C>A (p.Pro4663Thr) | |
| 1 | g.215671119C>A | CA344840853 | USH2A | c.13986G>T (p.Gln4662His) | |
| 1 | g.215671119C= | CA1220372162 | USH2A | c.13986G= (p.Gln4662=) | |
| 1 | g.215671119C>G | CA344840856 | USH2A | c.13986G>C (p.Gln4662His) | |
| 1 | g.215671119C>T | CA423426373 | USH2A | c.13986G>A (p.Gln4662=) | dbSNP gnomAD v4 |
| 1 | g.215671119_215671120del | CA913072747 | USH2A | c.13985_13986del (p.Gln4662ProfsTer20) | |
| 1 | g.215671119_215671120delinsCT | CA1220372161 | USH2A | c.13985_13986delinsAG (p.Gln4662=) | |
| 1 | g.215671120del | CA658822637 | USH2A | c.13985del (p.Gln4662ArgfsTer16) | ClinVar dbSNP |
| 1 | g.215671120T>A | CA344840859 | USH2A | c.13985A>T (p.Gln4662Leu) | |
| 1 | g.215671120T>C | CA344840861 | USH2A | c.13985A>G (p.Gln4662Arg) | |
| 1 | g.215671120T>G | CA344840864 | USH2A | c.13985A>C (p.Gln4662Pro) | |
| 1 | g.215671121G>A | CA344840866 | USH2A | c.13984C>T (p.Gln4662Ter) | |
| 1 | g.215671121G>C | CA143330 | USH2A | c.13984C>G (p.Gln4662Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671121G= | CA1140612986 | USH2A | c.13984C= (p.Gln4662=) | |
| 1 | g.215671121G>T | CA344840874 | USH2A | c.13984C>A (p.Gln4662Lys) | |
| 1 | g.215671122C>A | CA423426376 | USH2A | c.13983G>T (p.Leu4661=) | |
| 1 | g.215671122C>G | CA423426377 | USH2A | c.13983G>C (p.Leu4661=) | |
| 1 | g.215671122C>T | CA423426378 | USH2A | c.13983G>A (p.Leu4661=) | |
| 1 | g.215671123A>C | CA344840876 | USH2A | c.13982T>G (p.Leu4661Arg) | |
| 1 | g.215671123A>G | CA344840878 | USH2A | c.13982T>C (p.Leu4661Pro) | |
| 1 | g.215671123A>T | CA344840880 | USH2A | c.13982T>A (p.Leu4661Gln) | |
| 1 | g.215671124G>A | CA423426381 | USH2A | c.13981C>T (p.Leu4661=) | |
| 1 | g.215671124G>C | CA344840885 | USH2A | c.13981C>G (p.Leu4661Val) | |
| 1 | g.215671124G>T | CA344840886 | USH2A | c.13981C>A (p.Leu4661Met) | |
| 1 | g.215671125C>A | CA37410129 | USH2A | c.13980G>T (p.Pro4660=) | ClinVar dbSNP gnomAD v2 |
| 1 | g.215671125C= | CA1143462559 | USH2A | c.13980G= (p.Pro4660=) | |
| 1 | g.215671125C>G | CA423426382 | USH2A | c.13980G>C (p.Pro4660=) | |
| 1 | g.215671125C>T | CA1393168 | USH2A | c.13980G>A (p.Pro4660=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671126G>A | CA1393171 | USH2A | c.13979C>T (p.Pro4660Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671126G>C | CA1393170 | USH2A | c.13979C>G (p.Pro4660Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671126G= | CA1220372163 | USH2A | c.13979C= (p.Pro4660=) | |
| 1 | g.215671126G>T | CA1393169 | USH2A | c.13979C>A (p.Pro4660Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671127G>A | CA344840895 | USH2A | c.13978C>T (p.Pro4660Ser) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215671127G>C | CA344840897 | USH2A | c.13978C>G (p.Pro4660Ala) | |
| 1 | g.215671127G= | CA1220372164 | USH2A | c.13978C= (p.Pro4660=) | |
| 1 | g.215671127G>T | CA344840896 | USH2A | c.13978C>A (p.Pro4660Thr) | gnomAD v4 COSMIC COSMIC |
| 1 | g.215671128T>A | CA423426388 | USH2A | c.13977A>T (p.Gly4659=) | |
| 1 | g.215671128T>C | CA423426386 | USH2A | c.13977A>G (p.Gly4659=) | gnomAD v4 |
| 1 | g.215671128T>G | CA423426385 | USH2A | c.13977A>C (p.Gly4659=) | dbSNP |
| 1 | g.215671128T= | CA1220372165 | USH2A | c.13977A= (p.Gly4659=) | |
| 1 | g.215671129C>A | CA344840900 | USH2A | c.13976G>T (p.Gly4659Val) | |
| 1 | g.215671129C= | CA1220372166 | USH2A | c.13976G= (p.Gly4659=) | |
| 1 | g.215671129C>G | CA344840903 | USH2A | c.13976G>C (p.Gly4659Ala) | |
| 1 | g.215671129C>T | CA1393172 | USH2A | c.13976G>A (p.Gly4659Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671130C>A | CA344840919 | USH2A | c.13975G>T (p.Gly4659Ter) | |
| 1 | g.215671130C>G | CA344840921 | USH2A | c.13975G>C (p.Gly4659Arg) | |
| 1 | g.215671130C>T | CA344840924 | USH2A | c.13975G>A (p.Gly4659Arg) | gnomAD v4 COSMIC |
| 1 | g.215671131T>A | CA423426389 | USH2A | c.13974A>T (p.Thr4658=) | |
| 1 | g.215671131T>C | CA423426390 | USH2A | c.13974A>G (p.Thr4658=) | |
| 1 | g.215671131T>G | CA423426391 | USH2A | c.13974A>C (p.Thr4658=) | |
| 1 | g.215671132G>A | CA344840927 | USH2A | c.13973C>T (p.Thr4658Ile) | |
| 1 | g.215671132G>C | CA344840939 | USH2A | c.13973C>G (p.Thr4658Arg) | |
| 1 | g.215671132G>T | CA344840942 | USH2A | c.13973C>A (p.Thr4658Lys) | |
| 1 | g.215671133T>A | CA344840964 | USH2A | c.13972A>T (p.Thr4658Ser) | |
| 1 | g.215671133T>C | CA344840966 | USH2A | c.13972A>G (p.Thr4658Ala) | |
| 1 | g.215671133T>G | CA344840967 | USH2A | c.13972A>C (p.Thr4658Pro) | |
| 1 | g.215671134C>A | CA344840973 | USH2A | c.13971G>T (p.Trp4657Cys) | |
| 1 | g.215671134C>G | CA344840969 | USH2A | c.13971G>C (p.Trp4657Cys) | |
| 1 | g.215671134C>T | CA344840971 | USH2A | c.13971G>A (p.Trp4657Ter) | |
| 1 | g.215671135C>A | CA344840974 | USH2A | c.13970G>T (p.Trp4657Leu) | |
| 1 | g.215671135C>G | CA344840975 | USH2A | c.13970G>C (p.Trp4657Ser) | |
| 1 | g.215671135C>T | CA344840977 | USH2A | c.13970G>A (p.Trp4657Ter) | |
| 1 | g.215671136A>C | CA344840979 | USH2A | c.13969T>G (p.Trp4657Gly) | |
| 1 | g.215671136A>G | CA344840980 | USH2A | c.13969T>C (p.Trp4657Arg) | ClinVar |
| 1 | g.215671136A>T | CA344840981 | USH2A | c.13969T>A (p.Trp4657Arg) | COSMIC |
| 1 | g.215671137C>A | CA344840984 | USH2A | c.13968G>T (p.Leu4656Phe) | COSMIC |
| 1 | g.215671137C>G | CA344840987 | USH2A | c.13968G>C (p.Leu4656Phe) | |
| 1 | g.215671137C>T | CA423426394 | USH2A | c.13968G>A (p.Leu4656=) | |
| 1 | g.215671138A>C | CA344840990 | USH2A | c.13967T>G (p.Leu4656Trp) | |
| 1 | g.215671138A>G | CA344840992 | USH2A | c.13967T>C (p.Leu4656Ser) | |
| 1 | g.215671138A>T | CA344840996 | USH2A | c.13967T>A (p.Leu4656Ter) | |
| 1 | g.215671139A>C | CA344841005 | USH2A | c.13966T>G (p.Leu4656Val) | |
| 1 | g.215671139A>G | CA423426396 | USH2A | c.13966T>C (p.Leu4656=) | gnomAD v4 |
| 1 | g.215671139A>T | CA344841006 | USH2A | c.13966T>A (p.Leu4656Met) | |
| 1 | g.215671140A>C | CA423426397 | USH2A | c.13965T>G (p.Leu4655=) | |
| 1 | g.215671140A>G | CA423426398 | USH2A | c.13965T>C (p.Leu4655=) | |
| 1 | g.215671140A>T | CA423426399 | USH2A | c.13965T>A (p.Leu4655=) | |
| 1 | g.215671141A>C | CA344841007 | USH2A | c.13964T>G (p.Leu4655Arg) | |
| 1 | g.215671141A>G | CA344841008 | USH2A | c.13964T>C (p.Leu4655Pro) | ClinVar |
| 1 | g.215671141A>T | CA344841009 | USH2A | c.13964T>A (p.Leu4655His) | |
| 1 | g.215671142G>A | CA344841010 | USH2A | c.13963C>T (p.Leu4655Phe) | |
| 1 | g.215671142G>C | CA344841011 | USH2A | c.13963C>G (p.Leu4655Val) | dbSNP |
| 1 | g.215671142G= | CA1220372167 | USH2A | c.13963C= (p.Leu4655=) | |
| 1 | g.215671142G>T | CA344841012 | USH2A | c.13963C>A (p.Leu4655Ile) | |
| 1 | g.215671143A>C | CA423426402 | USH2A | c.13962T>G (p.Ser4654=) | |
| 1 | g.215671143A>G | CA423426403 | USH2A | c.13962T>C (p.Ser4654=) | dbSNP |
| 1 | g.215671143A>T | CA423426401 | USH2A | c.13962T>A (p.Ser4654=) | |
| 1 | g.215671144G>A | CA344841014 | USH2A | c.13961C>T (p.Ser4654Phe) | |
| 1 | g.215671144G>C | CA344841015 | USH2A | c.13961C>G (p.Ser4654Cys) | |
| 1 | g.215671144G>T | CA344841018 | USH2A | c.13961C>A (p.Ser4654Tyr) | COSMIC COSMIC |
| 1 | g.215671145A= | CA1220372168 | USH2A | c.13960T= (p.Ser4654=) | |
| 1 | g.215671145A>C | CA344841020 | USH2A | c.13960T>G (p.Ser4654Ala) | |
| 1 | g.215671145A>G | CA344841021 | USH2A | c.13960T>C (p.Ser4654Pro) | |
| 1 | g.215671145A>T | CA344841022 | USH2A | c.13960T>A (p.Ser4654Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671146A>C | CA423426404 | USH2A | c.13959T>G (p.Val4653=) | |
| 1 | g.215671146A>G | CA423426405 | USH2A | c.13959T>C (p.Val4653=) | |
| 1 | g.215671146A>T | CA423426406 | USH2A | c.13959T>A (p.Val4653=) | |
| 1 | g.215671147A>C | CA344841031 | USH2A | c.13958T>G (p.Val4653Gly) | |
| 1 | g.215671147A>G | CA344841027 | USH2A | c.13958T>C (p.Val4653Ala) | |
| 1 | g.215671147A>T | CA344841029 | USH2A | c.13958T>A (p.Val4653Asp) | |
| 1 | g.215671148C>A | CA344841033 | USH2A | c.13957G>T (p.Val4653Phe) | |
| 1 | g.215671148C= | CA1220372169 | USH2A | c.13957G= (p.Val4653=) | |
| 1 | g.215671148C>G | CA344841036 | USH2A | c.13957G>C (p.Val4653Leu) | ClinVar gnomAD v4 COSMIC COSMIC |
| 1 | g.215671148C>T | CA344841041 | USH2A | c.13957G>A (p.Val4653Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671149A= | CA1220372170 | USH2A | c.13956T= (p.Thr4652=) | |
| 1 | g.215671149A>C | CA423426408 | USH2A | c.13956T>G (p.Thr4652=) | ClinVar gnomAD v4 |
| 1 | g.215671149A>G | CA423426410 | USH2A | c.13956T>C (p.Thr4652=) | |
| 1 | g.215671149A>T | CA423426411 | USH2A | c.13956T>A (p.Thr4652=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215671150G>A | CA344841044 | USH2A | c.13955C>T (p.Thr4652Ile) | |
| 1 | g.215671150G>C | CA344841045 | USH2A | c.13955C>G (p.Thr4652Ser) | |
| 1 | g.215671150G= | CA1142251615 | USH2A | c.13955C= (p.Thr4652=) | |
| 1 | g.215671150G>T | CA1393173 | USH2A | c.13955C>A (p.Thr4652Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215671151T>A | CA344841046 | USH2A | c.13954A>T (p.Thr4652Ser) | |
| 1 | g.215671151T>C | CA344841047 | USH2A | c.13954A>G (p.Thr4652Ala) | COSMIC COSMIC |
| 1 | g.215671151T>G | CA344841048 | USH2A | c.13954A>C (p.Thr4652Pro) | |
| 1 | g.215671152del | CA2586968120 | USH2A | c.13954del (p.Thr4652LeufsTer26) | |
| 1 | g.215671152T>A | CA423426412 | USH2A | c.13953A>T (p.Pro4651=) | |
| 1 | g.215671152T>C | CA423426413 | USH2A | c.13953A>G (p.Pro4651=) | |
| 1 | g.215671152T>G | CA423426415 | USH2A | c.13953A>C (p.Pro4651=) | |
| 1 | g.215671153G>A | CA344841049 | USH2A | c.13952C>T (p.Pro4651Leu) | |
| 1 | g.215671153G>C | CA344841050 | USH2A | c.13952C>G (p.Pro4651Arg) | |
| 1 | g.215671153G>T | CA344841052 | USH2A | c.13952C>A (p.Pro4651Gln) | |
| 1 | g.215671154G>A | CA344841059 | USH2A | c.13951C>T (p.Pro4651Ser) | COSMIC COSMIC |
| 1 | g.215671154G>C | CA1393174 | USH2A | c.13951C>G (p.Pro4651Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215671154G= | CA1145875076 | USH2A | c.13951C= (p.Pro4651=) | |
| 1 | g.215671154G>T | CA344841056 | USH2A | c.13951C>A (p.Pro4651Thr) | gnomAD v4 |
| 1 | g.215671155C>A | CA344841066 | USH2A | c.13950G>T (p.Gln4650His) | COSMIC COSMIC |
| 1 | g.215671155C>G | CA344841064 | USH2A | c.13950G>C (p.Gln4650His) | |
| 1 | g.215671155C>T | CA423426417 | USH2A | c.13950G>A (p.Gln4650=) | |
| 1 | g.215671156T>A | CA344841069 | USH2A | c.13949A>T (p.Gln4650Leu) | |
| 1 | g.215671156T>C | CA344841071 | USH2A | c.13949A>G (p.Gln4650Arg) | |
| 1 | g.215671156T>G | CA344841075 | USH2A | c.13949A>C (p.Gln4650Pro) | |
| 1 | g.215671157G>A | CA344841086 | USH2A | c.13948C>T (p.Gln4650Ter) | ClinVar dbSNP |
| 1 | g.215671157G>C | CA344841090 | USH2A | c.13948C>G (p.Gln4650Glu) | |
| 1 | g.215671157G= | CA1220372171 | USH2A | c.13948C= (p.Gln4650=) | |
| 1 | g.215671157G>T | CA344841092 | USH2A | c.13948C>A (p.Gln4650Lys) | |
| 1 | g.215671158G>A | CA37410145 | USH2A | c.13947C>T (p.Phe4649=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671158G>C | CA344841096 | USH2A | c.13947C>G (p.Phe4649Leu) | |
| 1 | g.215671158G= | CA1220372172 | USH2A | c.13947C= (p.Phe4649=) | |
| 1 | g.215671158G>T | CA344841099 | USH2A | c.13947C>A (p.Phe4649Leu) | |
| 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=) |