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 |
|---|---|---|---|---|---|
| 17 | g.74919902_74919916delinsGGCCGGGGCGGGTAA | CA2275255329 | USH1G | c.920_934delinsTTACCCGCCCCGGCC (p.Phe307=) c.*519_*533delinsTTACCCGCCCCGGCC (n.*519_*533delinsTTACCCGCCCCGGCC) c.611_625delinsTTACCCGCCCCGGCC (p.Phe204=) | |
| 17 | g.74919903_74919916del | CA2275255330 | USH1G | c.920_933del (p.Phe307SerfsTer?) c.*519_*532del (n.*519_*532del) c.611_624del (p.Phe204SerfsTer?) | dbSNP |
| 17 | g.74919903_74919916delinsGCCGGGGCGGGTAA | CA2275255331 | USH1G | c.920_933delinsTTACCCGCCCCGGC (p.Phe307=) c.*519_*532delinsTTACCCGCCCCGGC (n.*519_*532delinsTTACCCGCCCCGGC) c.611_624delinsTTACCCGCCCCGGC (p.Phe204=) | |
| 17 | g.74919904_74919916del | CA986277659 | USH1G | c.920_932del (p.Phe307SerfsTer12) c.*519_*531del (n.*519_*531del) c.611_623del (p.Phe204SerfsTer12) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.74919909G>A | CA502036686 | USH1G | c.927C>T (p.Arg309=) c.*526C>T (n.*526C>T) c.618C>T (p.Arg206=) | |
| 17 | g.74919909G>C | CA502036685 | USH1G | c.927C>G (p.Arg309=) c.*526C>G (n.*526C>G) c.618C>G (p.Arg206=) | gnomAD v4 |
| 17 | g.74919909G>T | CA502036684 | USH1G | c.927C>A (p.Arg309=) c.*526C>A (n.*526C>A) c.618C>A (p.Arg206=) | |
| 17 | g.74919910C>A | CA8753968 | USH1G | c.926G>T (p.Arg309Leu) c.*525G>T (n.*525G>T) c.617G>T (p.Arg206Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919910C= | CA2275255336 | USH1G | c.926G= (p.Arg309=) c.*525G= (n.*525G=) c.617G= (p.Arg206=) | |
| 17 | g.74919910C>G | CA400962498 | USH1G | c.926G>C (p.Arg309Pro) c.*525G>C (n.*525G>C) c.617G>C (p.Arg206Pro) | |
| 17 | g.74919910C>T | CA400962500 | USH1G | c.926G>A (p.Arg309His) c.*525G>A (n.*525G>A) c.617G>A (p.Arg206His) | |
| 17 | g.74919911G>A | CA10577042 | USH1G | c.925C>T (p.Arg309Cys) c.*524C>T (n.*524C>T) c.616C>T (p.Arg206Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.74919911G>C | CA400962505 | USH1G | c.925C>G (p.Arg309Gly) c.*524C>G (n.*524C>G) c.616C>G (p.Arg206Gly) | |
| 17 | g.74919911G= | CA2275255337 | USH1G | c.925C= (p.Arg309=) c.*524C= (n.*524C=) c.616C= (p.Arg206=) | |
| 17 | g.74919911G>T | CA400962508 | USH1G | c.925C>A (p.Arg309Ser) c.*524C>A (n.*524C>A) c.616C>A (p.Arg206Ser) | |
| 17 | g.74919912G>A | CA502036694 | USH1G | c.924C>T (p.Thr308=) c.*523C>T (n.*523C>T) c.615C>T (p.Thr205=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.74919912G>C | CA502036695 | USH1G | c.924C>G (p.Thr308=) c.*523C>G (n.*523C>G) c.615C>G (p.Thr205=) | |
| 17 | g.74919912G= | CA2275255338 | USH1G | c.924C= (p.Thr308=) c.*523C= (n.*523C=) c.615C= (p.Thr205=) | |
| 17 | g.74919912G>T | CA502036696 | USH1G | c.924C>A (p.Thr308=) c.*523C>A (n.*523C>A) c.615C>A (p.Thr205=) | |
| 17 | g.74919913G>A | CA400962511 | USH1G | c.923C>T (p.Thr308Ile) c.*522C>T (n.*522C>T) c.614C>T (p.Thr205Ile) | ClinVar gnomAD v4 |
| 17 | g.74919913G>C | CA400962514 | USH1G | c.923C>G (p.Thr308Ser) c.*522C>G (n.*522C>G) c.614C>G (p.Thr205Ser) | |
| 17 | g.74919913G>T | CA400962512 | USH1G | c.923C>A (p.Thr308Asn) c.*522C>A (n.*522C>A) c.614C>A (p.Thr205Asn) | COSMIC |
| 17 | g.74919914T>A | CA400962518 | USH1G | c.922A>T (p.Thr308Ser) c.*521A>T (n.*521A>T) c.613A>T (p.Thr205Ser) | |
| 17 | g.74919914T>C | CA400962520 | USH1G | c.922A>G (p.Thr308Ala) c.*521A>G (n.*521A>G) c.613A>G (p.Thr205Ala) | |
| 17 | g.74919914T>G | CA400962523 | USH1G | c.922A>C (p.Thr308Pro) c.*521A>C (n.*521A>C) c.613A>C (p.Thr205Pro) | dbSNP |
| 17 | g.74919915A>C | CA400962525 | USH1G | c.921T>G (p.Phe307Leu) c.*520T>G (n.*520T>G) c.612T>G (p.Phe204Leu) | |
| 17 | g.74919915A>G | CA502036699 | USH1G | c.921T>C (p.Phe307=) c.*520T>C (n.*520T>C) c.612T>C (p.Phe204=) | |
| 17 | g.74919915A>T | CA400962528 | USH1G | c.921T>A (p.Phe307Leu) c.*520T>A (n.*520T>A) c.612T>A (p.Phe204Leu) | |
| 17 | g.74919915_74919921del | CA2734173821 | USH1G | c.915_921del (p.Leu306ProfsTer15) c.*514_*520del (n.*514_*520del) c.606_612del (p.Leu203ProfsTer15) | dbSNP |
| 17 | g.74919916A>C | CA400962530 | USH1G | c.920T>G (p.Phe307Cys) c.*519T>G (n.*519T>G) c.611T>G (p.Phe204Cys) | |
| 17 | g.74919916A>G | CA400962533 | USH1G | c.920T>C (p.Phe307Ser) c.*519T>C (n.*519T>C) c.611T>C (p.Phe204Ser) | |
| 17 | g.74919916A>T | CA400962536 | USH1G | c.920T>A (p.Phe307Tyr) c.*519T>A (n.*519T>A) c.611T>A (p.Phe204Tyr) | |
| 17 | g.74919917A>C | CA400962539 | USH1G | c.919T>G (p.Phe307Val) c.*518T>G (n.*518T>G) c.610T>G (p.Phe204Val) | |
| 17 | g.74919917A>G | CA400962541 | USH1G | c.919T>C (p.Phe307Leu) c.*518T>C (n.*518T>C) c.610T>C (p.Phe204Leu) | |
| 17 | g.74919917A>T | CA400962544 | USH1G | c.919T>A (p.Phe307Ile) c.*518T>A (n.*518T>A) c.610T>A (p.Phe204Ile) | |
| 17 | g.74919918C>A | CA502036700 | USH1G | c.918G>T (p.Leu306=) c.*517G>T (n.*517G>T) c.609G>T (p.Leu203=) | |
| 17 | g.74919918C= | CA2275255340 | USH1G | c.918G= (p.Leu306=) c.*517G= (n.*517G=) c.609G= (p.Leu203=) | |
| 17 | g.74919918C>G | CA502036701 | USH1G | c.918G>C (p.Leu306=) c.*517G>C (n.*517G>C) c.609G>C (p.Leu203=) | gnomAD v4 |
| 17 | g.74919918C>T | CA502036702 | USH1G | c.918G>A (p.Leu306=) c.*517G>A (n.*517G>A) c.609G>A (p.Leu203=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.74919918_74919920delinsCAG | CA2275255339 | USH1G | c.916_918delinsCTG (p.Leu306=) c.*515_*517delinsCTG (n.*515_*517delinsCTG) c.607_609delinsCTG (p.Leu203=) | |
| 17 | g.74919919A>C | CA400962555 | USH1G | c.917T>G (p.Leu306Arg) c.*516T>G (n.*516T>G) c.608T>G (p.Leu203Arg) | |
| 17 | g.74919919A>G | CA400962552 | USH1G | c.917T>C (p.Leu306Pro) c.*516T>C (n.*516T>C) c.608T>C (p.Leu203Pro) | |
| 17 | g.74919919A>T | CA400962549 | USH1G | c.917T>A (p.Leu306Gln) c.*516T>A (n.*516T>A) c.608T>A (p.Leu203Gln) | |
| 17 | g.74919919_74919920del | CA8753969 | USH1G | c.916_917del (p.Leu306ValfsTer?) c.*515_*516del (n.*515_*516del) c.607_608del (p.Leu203ValfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.74919920G>A | CA502036704 | USH1G | c.916C>T (p.Leu306=) c.*515C>T (n.*515C>T) c.607C>T (p.Leu203=) | |
| 17 | g.74919920G>C | CA8753970 | USH1G | c.916C>G (p.Leu306Val) c.*515C>G (n.*515C>G) c.607C>G (p.Leu203Val) | dbSNP ExAC gnomAD v4 |
| 17 | g.74919920G= | CA2275255341 | USH1G | c.916C= (p.Leu306=) c.*515C= (n.*515C=) c.607C= (p.Leu203=) | |
| 17 | g.74919920G>T | CA400962559 | USH1G | c.916C>A (p.Leu306Met) c.*515C>A (n.*515C>A) c.607C>A (p.Leu203Met) | |
| 17 | g.74919921G>A | CA502036706 | USH1G | c.915C>T (p.Ser305=) c.*514C>T (n.*514C>T) c.606C>T (p.Ser202=) | gnomAD v4 |
| 17 | g.74919921G>C | CA502036709 | USH1G | c.915C>G (p.Ser305=) c.*514C>G (n.*514C>G) c.606C>G (p.Ser202=) | |
| 17 | g.74919921G>T | CA502036707 | USH1G | c.915C>A (p.Ser305=) c.*514C>A (n.*514C>A) c.606C>A (p.Ser202=) | |
| 17 | g.74919922G>A | CA8753972 | USH1G | c.914C>T (p.Ser305Phe) c.*513C>T (n.*513C>T) c.605C>T (p.Ser202Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919922G>C | CA8753971 | USH1G | c.914C>G (p.Ser305Cys) c.*513C>G (n.*513C>G) c.605C>G (p.Ser202Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919922G= | CA2275255342 | USH1G | c.914C= (p.Ser305=) c.*513C= (n.*513C=) c.605C= (p.Ser202=) | |
| 17 | g.74919922G>T | CA400962564 | USH1G | c.914C>A (p.Ser305Tyr) c.*513C>A (n.*513C>A) c.605C>A (p.Ser202Tyr) | |
| 17 | g.74919923A= | CA2275255343 | USH1G | c.913T= (p.Ser305=) c.*512T= (n.*512T=) c.604T= (p.Ser202=) | |
| 17 | g.74919923A>C | CA400962566 | USH1G | c.913T>G (p.Ser305Ala) c.*512T>G (n.*512T>G) c.604T>G (p.Ser202Ala) | |
| 17 | g.74919923A>G | CA400962568 | USH1G | c.913T>C (p.Ser305Pro) c.*512T>C (n.*512T>C) c.604T>C (p.Ser202Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.74919923A>T | CA400962570 | USH1G | c.913T>A (p.Ser305Thr) c.*512T>A (n.*512T>A) c.604T>A (p.Ser202Thr) | |
| 17 | g.74919924G>A | CA8753973 | USH1G | c.912C>T (p.Asp304=) c.*511C>T (n.*511C>T) c.603C>T (p.Asp201=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919924G>C | CA400962575 | USH1G | c.912C>G (p.Asp304Glu) c.*511C>G (n.*511C>G) c.603C>G (p.Asp201Glu) | |
| 17 | g.74919924G= | CA2275255344 | USH1G | c.912C= (p.Asp304=) c.*511C= (n.*511C=) c.603C= (p.Asp201=) | |
| 17 | g.74919924G>T | CA400962578 | USH1G | c.912C>A (p.Asp304Glu) c.*511C>A (n.*511C>A) c.603C>A (p.Asp201Glu) | gnomAD v4 |
| 17 | g.74919925T>A | CA400962587 | USH1G | c.911A>T (p.Asp304Val) c.*510A>T (n.*510A>T) c.602A>T (p.Asp201Val) | |
| 17 | g.74919925T>C | CA400962583 | USH1G | c.911A>G (p.Asp304Gly) c.*510A>G (n.*510A>G) c.602A>G (p.Asp201Gly) | dbSNP gnomAD v4 |
| 17 | g.74919925T>G | CA400962584 | USH1G | c.911A>C (p.Asp304Ala) c.*510A>C (n.*510A>C) c.602A>C (p.Asp201Ala) | gnomAD v4 |
| 17 | g.74919925T= | CA2275255345 | USH1G | c.911A= (p.Asp304=) c.*510A= (n.*510A=) c.602A= (p.Asp201=) | |
| 17 | g.74919926C>A | CA400962592 | USH1G | c.910G>T (p.Asp304Tyr) c.*509G>T (n.*509G>T) c.601G>T (p.Asp201Tyr) | |
| 17 | g.74919926C>G | CA400962596 | USH1G | c.910G>C (p.Asp304His) c.*509G>C (n.*509G>C) c.601G>C (p.Asp201His) | |
| 17 | g.74919926C>T | CA400962594 | USH1G | c.910G>A (p.Asp304Asn) c.*509G>A (n.*509G>A) c.601G>A (p.Asp201Asn) | |
| 17 | g.74919927G>A | CA502036714 | USH1G | c.909C>T (p.His303=) c.*508C>T (n.*508C>T) c.600C>T (p.His200=) | gnomAD v4 |
| 17 | g.74919927G>C | CA400962600 | USH1G | c.909C>G (p.His303Gln) c.*508C>G (n.*508C>G) c.600C>G (p.His200Gln) | |
| 17 | g.74919927G>T | CA400962602 | USH1G | c.909C>A (p.His303Gln) c.*508C>A (n.*508C>A) c.600C>A (p.His200Gln) | |
| 17 | g.74919928T>A | CA400962606 | USH1G | c.908A>T (p.His303Leu) c.*507A>T (n.*507A>T) c.599A>T (p.His200Leu) | |
| 17 | g.74919928T>C | CA400962609 | USH1G | c.908A>G (p.His303Arg) c.*507A>G (n.*507A>G) c.599A>G (p.His200Arg) | dbSNP |
| 17 | g.74919928T>G | CA8753974 | USH1G | c.908A>C (p.His303Pro) c.*507A>C (n.*507A>C) c.599A>C (p.His200Pro) | dbSNP ExAC gnomAD v2 |
| 17 | g.74919928T= | CA2275255346 | USH1G | c.908A= (p.His303=) c.*507A= (n.*507A=) c.599A= (p.His200=) | |
| 17 | g.74919929G>A | CA8753975 | USH1G | c.907C>T (p.His303Tyr) c.*506C>T (n.*506C>T) c.598C>T (p.His200Tyr) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 17 | g.74919929G>C | CA400962614 | USH1G | c.907C>G (p.His303Asp) c.*506C>G (n.*506C>G) c.598C>G (p.His200Asp) | |
| 17 | g.74919929G= | CA2275255347 | USH1G | c.907C= (p.His303=) c.*506C= (n.*506C=) c.598C= (p.His200=) | |
| 17 | g.74919929G>T | CA400962615 | USH1G | c.907C>A (p.His303Asn) c.*506C>A (n.*506C>A) c.598C>A (p.His200Asn) | |
| 17 | g.74919930dup | CA2639747593 | USH1G | c.907dup (p.His303ProfsTer?) c.*506dup (n.*506dup) c.598dup (p.His200ProfsTer?) | gnomAD v4 |
| 17 | g.74919930G>A | CA502036720 | USH1G | c.906C>T (p.Gly302=) c.*505C>T (n.*505C>T) c.597C>T (p.Gly199=) | dbSNP |
| 17 | g.74919930G>C | CA502036722 | USH1G | c.906C>G (p.Gly302=) c.*505C>G (n.*505C>G) c.597C>G (p.Gly199=) | |
| 17 | g.74919930G>T | CA502036723 | USH1G | c.906C>A (p.Gly302=) c.*505C>A (n.*505C>A) c.597C>A (p.Gly199=) | |
| 17 | g.74919931C>A | CA400962619 | USH1G | c.905G>T (p.Gly302Val) c.*504G>T (n.*504G>T) c.596G>T (p.Gly199Val) | dbSNP gnomAD v4 |
| 17 | g.74919931C>G | CA400962620 | USH1G | c.905G>C (p.Gly302Ala) c.*504G>C (n.*504G>C) c.596G>C (p.Gly199Ala) | gnomAD v4 |
| 17 | g.74919931C>T | CA400962621 | USH1G | c.905G>A (p.Gly302Asp) c.*504G>A (n.*504G>A) c.596G>A (p.Gly199Asp) | gnomAD v4 COSMIC |
| 17 | g.74919932C>A | CA400962624 | USH1G | c.904G>T (p.Gly302Cys) c.*503G>T (n.*503G>T) c.595G>T (p.Gly199Cys) | |
| 17 | g.74919932C>G | CA400962627 | USH1G | c.904G>C (p.Gly302Arg) c.*503G>C (n.*503G>C) c.595G>C (p.Gly199Arg) | |
| 17 | g.74919932C>T | CA400962629 | USH1G | c.904G>A (p.Gly302Ser) c.*503G>A (n.*503G>A) c.595G>A (p.Gly199Ser) | COSMIC |
| 17 | g.74919933T>A | CA502036725 | USH1G | c.903A>T (p.Ser301=) c.*502A>T (n.*502A>T) c.594A>T (p.Ser198=) | |
| 17 | g.74919933T>C | CA502036726 | USH1G | c.903A>G (p.Ser301=) c.*502A>G (n.*502A>G) c.594A>G (p.Ser198=) | |
| 17 | g.74919933T>G | CA502036727 | USH1G | c.903A>C (p.Ser301=) c.*502A>C (n.*502A>C) c.594A>C (p.Ser198=) | |
| 17 | g.74919934G>A | CA400962638 | USH1G | c.902C>T (p.Ser301Leu) c.*501C>T (n.*501C>T) c.593C>T (p.Ser198Leu) | |
| 17 | g.74919934G>C | CA400962635 | USH1G | c.902C>G (p.Ser301Ter) c.*501C>G (n.*501C>G) c.593C>G (p.Ser198Ter) | |
| 17 | g.74919934G>T | CA400962632 | USH1G | c.902C>A (p.Ser301Ter) c.*501C>A (n.*501C>A) c.593C>A (p.Ser198Ter) | |
| 17 | g.74919935A>C | CA400962641 | USH1G | c.901T>G (p.Ser301Ala) c.*500T>G (n.*500T>G) c.592T>G (p.Ser198Ala) | |
| 17 | g.74919935A>G | CA400962644 | USH1G | c.901T>C (p.Ser301Pro) c.*500T>C (n.*500T>C) c.592T>C (p.Ser198Pro) | |
| 17 | g.74919935A>T | CA400962646 | USH1G | c.901T>A (p.Ser301Thr) c.*500T>A (n.*500T>A) c.592T>A (p.Ser198Thr) | |
| 17 | g.74919936G>A | CA502036736 | USH1G | c.900C>T (p.Asp300=) c.*499C>T (n.*499C>T) c.591C>T (p.Asp197=) | |
| 17 | g.74919936G>C | CA400962649 | USH1G | c.900C>G (p.Asp300Glu) c.*499C>G (n.*499C>G) c.591C>G (p.Asp197Glu) | |
| 17 | g.74919936G>T | CA400962651 | USH1G | c.900C>A (p.Asp300Glu) c.*499C>A (n.*499C>A) c.591C>A (p.Asp197Glu) | |
| 17 | g.74919937T>A | CA400962654 | USH1G | c.899A>T (p.Asp300Val) c.*498A>T (n.*498A>T) c.590A>T (p.Asp197Val) | |
| 17 | g.74919937T>C | CA400962657 | USH1G | c.899A>G (p.Asp300Gly) c.*498A>G (n.*498A>G) c.590A>G (p.Asp197Gly) | |
| 17 | g.74919937T>G | CA400962658 | USH1G | c.899A>C (p.Asp300Ala) c.*498A>C (n.*498A>C) c.590A>C (p.Asp197Ala) | |
| 17 | g.74919938C>A | CA400962661 | USH1G | c.898G>T (p.Asp300Tyr) c.*497G>T (n.*497G>T) c.589G>T (p.Asp197Tyr) | gnomAD v4 |
| 17 | g.74919938C>G | CA400962664 | USH1G | c.898G>C (p.Asp300His) c.*497G>C (n.*497G>C) c.589G>C (p.Asp197His) | ClinVar |
| 17 | g.74919938C>T | CA400962666 | USH1G | c.898G>A (p.Asp300Asn) c.*497G>A (n.*497G>A) c.589G>A (p.Asp197Asn) | |
| 17 | g.74919939G>A | CA502036743 | USH1G | c.897C>T (p.Thr299=) c.*496C>T (n.*496C>T) c.588C>T (p.Thr196=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.74919939G>C | CA502036746 | USH1G | c.897C>G (p.Thr299=) c.*496C>G (n.*496C>G) c.588C>G (p.Thr196=) | |
| 17 | g.74919939G= | CA2275255348 | USH1G | c.897C= (p.Thr299=) c.*496C= (n.*496C=) c.588C= (p.Thr196=) | |
| 17 | g.74919939G>T | CA502036747 | USH1G | c.897C>A (p.Thr299=) c.*496C>A (n.*496C>A) c.588C>A (p.Thr196=) | |
| 17 | g.74919940G>A | CA400962673 | USH1G | c.896C>T (p.Thr299Ile) c.*495C>T (n.*495C>T) c.587C>T (p.Thr196Ile) | |
| 17 | g.74919940G>C | CA400962674 | USH1G | c.896C>G (p.Thr299Ser) c.*495C>G (n.*495C>G) c.587C>G (p.Thr196Ser) | gnomAD v4 |
| 17 | g.74919940G>T | CA400962669 | USH1G | c.896C>A (p.Thr299Asn) c.*495C>A (n.*495C>A) c.587C>A (p.Thr196Asn) | |
| 17 | g.74919941T>A | CA400962678 | USH1G | c.895A>T (p.Thr299Ser) c.*494A>T (n.*494A>T) c.586A>T (p.Thr196Ser) | |
| 17 | g.74919941T>C | CA400962680 | USH1G | c.895A>G (p.Thr299Ala) c.*494A>G (n.*494A>G) c.586A>G (p.Thr196Ala) | |
| 17 | g.74919941T>G | CA400962683 | USH1G | c.895A>C (p.Thr299Pro) c.*494A>C (n.*494A>C) c.586A>C (p.Thr196Pro) | |
| 17 | g.74919942G>A | CA502036752 | USH1G | c.894C>T (p.Ser298=) c.*493C>T (n.*493C>T) c.585C>T (p.Ser195=) | |
| 17 | g.74919942G>C | CA400962684 | USH1G | c.894C>G (p.Ser298Arg) c.*493C>G (n.*493C>G) c.585C>G (p.Ser195Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919942G= | CA2275255349 | USH1G | c.894C= (p.Ser298=) c.*493C= (n.*493C=) c.585C= (p.Ser195=) | |
| 17 | g.74919942G>T | CA400962688 | USH1G | c.894C>A (p.Ser298Arg) c.*493C>A (n.*493C>A) c.585C>A (p.Ser195Arg) | gnomAD v4 |
| 17 | g.74919943C>A | CA400962692 | USH1G | c.893G>T (p.Ser298Ile) c.*492G>T (n.*492G>T) c.584G>T (p.Ser195Ile) | |
| 17 | g.74919943C>G | CA400962693 | USH1G | c.893G>C (p.Ser298Thr) c.*492G>C (n.*492G>C) c.584G>C (p.Ser195Thr) | |
| 17 | g.74919943C>T | CA400962696 | USH1G | c.893G>A (p.Ser298Asn) c.*492G>A (n.*492G>A) c.584G>A (p.Ser195Asn) | |
| 17 | g.74919944T>A | CA400962699 | USH1G | c.892A>T (p.Ser298Cys) c.*491A>T (n.*491A>T) c.583A>T (p.Ser195Cys) | |
| 17 | g.74919944T>C | CA400962702 | USH1G | c.892A>G (p.Ser298Gly) c.*491A>G (n.*491A>G) c.583A>G (p.Ser195Gly) | dbSNP gnomAD v4 |
| 17 | g.74919944T>G | CA400962706 | USH1G | c.892A>C (p.Ser298Arg) c.*491A>C (n.*491A>C) c.583A>C (p.Ser195Arg) | |
| 17 | g.74919944T= | CA2275255350 | USH1G | c.892A= (p.Ser298=) c.*491A= (n.*491A=) c.583A= (p.Ser195=) | |
| 17 | g.74919945G>A | CA502036758 | USH1G | c.891C>T (p.Val297=) c.*490C>T (n.*490C>T) c.582C>T (p.Val194=) | |
| 17 | g.74919945G>C | CA502036760 | USH1G | c.891C>G (p.Val297=) c.*490C>G (n.*490C>G) c.582C>G (p.Val194=) | |
| 17 | g.74919945G>T | CA502036762 | USH1G | c.891C>A (p.Val297=) c.*490C>A (n.*490C>A) c.582C>A (p.Val194=) | |
| 17 | g.74919946A>C | CA400962715 | USH1G | c.890T>G (p.Val297Gly) c.*489T>G (n.*489T>G) c.581T>G (p.Val194Gly) | |
| 17 | g.74919946A>G | CA400962713 | USH1G | c.890T>C (p.Val297Ala) c.*489T>C (n.*489T>C) c.581T>C (p.Val194Ala) | |
| 17 | g.74919946A>T | CA400962710 | USH1G | c.890T>A (p.Val297Asp) c.*489T>A (n.*489T>A) c.581T>A (p.Val194Asp) | |
| 17 | g.74919946_74919949delinsACCT | CA2275255351 | USH1G | c.887_890delinsAGGT (p.Glu296=) c.*486_*489delinsAGGT (n.*486_*489delinsAGGT) c.578_581delinsAGGT (p.Glu193=) | |
| 17 | g.74919947C>A | CA400962718 | USH1G | c.889G>T (p.Val297Phe) c.*488G>T (n.*488G>T) c.580G>T (p.Val194Phe) | |
| 17 | g.74919947C>G | CA400962720 | USH1G | c.889G>C (p.Val297Leu) c.*488G>C (n.*488G>C) c.580G>C (p.Val194Leu) | |
| 17 | g.74919947C>T | CA400962723 | USH1G | c.889G>A (p.Val297Ile) c.*488G>A (n.*488G>A) c.580G>A (p.Val194Ile) | |
| 17 | g.74919949_74919951del | CA8753976 | USH1G | c.887_889del (p.Glu296del) c.*486_*488del (n.*486_*488del) c.578_580del (p.Glu193del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.74919948C>A | CA400962727 | USH1G | c.888G>T (p.Glu296Asp) c.*487G>T (n.*487G>T) c.579G>T (p.Glu193Asp) | |
| 17 | g.74919948C= | CA2275255352 | USH1G | c.888G= (p.Glu296=) c.*487G= (n.*487G=) c.579G= (p.Glu193=) | |
| 17 | g.74919948C>G | CA400962728 | USH1G | c.888G>C (p.Glu296Asp) c.*487G>C (n.*487G>C) c.579G>C (p.Glu193Asp) | |
| 17 | g.74919948C>T | CA502036771 | USH1G | c.888G>A (p.Glu296=) c.*487G>A (n.*487G>A) c.579G>A (p.Glu193=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919949T>A | CA400962732 | USH1G | c.887A>T (p.Glu296Val) c.*486A>T (n.*486A>T) c.578A>T (p.Glu193Val) | |
| 17 | g.74919949T>C | CA400962734 | USH1G | c.887A>G (p.Glu296Gly) c.*486A>G (n.*486A>G) c.578A>G (p.Glu193Gly) | |
| 17 | g.74919949T>G | CA8753977 | USH1G | c.887A>C (p.Glu296Ala) c.*486A>C (n.*486A>C) c.578A>C (p.Glu193Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.74919949T= | CA2275255353 | USH1G | c.887A= (p.Glu296=) c.*486A= (n.*486A=) c.578A= (p.Glu193=) | |
| 17 | g.74919950C>A | CA400962742 | USH1G | c.886G>T (p.Glu296Ter) c.*485G>T (n.*485G>T) c.577G>T (p.Glu193Ter) | |
| 17 | g.74919950C>G | CA400962744 | USH1G | c.886G>C (p.Glu296Gln) c.*485G>C (n.*485G>C) c.577G>C (p.Glu193Gln) | |
| 17 | g.74919950C>T | CA400962747 | USH1G | c.886G>A (p.Glu296Lys) c.*485G>A (n.*485G>A) c.577G>A (p.Glu193Lys) | gnomAD v4 |
| 17 | g.74919951C>A | CA502036780 | USH1G | c.885G>T (p.Ser295=) c.*484G>T (n.*484G>T) c.576G>T (p.Ser192=) | ClinVar |
| 17 | g.74919951C= | CA2275255354 | USH1G | c.885G= (p.Ser295=) c.*484G= (n.*484G=) c.576G= (p.Ser192=) | |
| 17 | g.74919951C>G | CA8753978 | USH1G | c.885G>C (p.Ser295=) c.*484G>C (n.*484G>C) c.576G>C (p.Ser192=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919951C>T | CA502036777 | USH1G | c.885G>A (p.Ser295=) c.*484G>A (n.*484G>A) c.576G>A (p.Ser192=) | gnomAD v4 |
| 17 | g.74919952G>A | CA400962755 | USH1G | c.884C>T (p.Ser295Leu) c.*483C>T (n.*483C>T) c.575C>T (p.Ser192Leu) | ClinVar dbSNP gnomAD v4 |
| 17 | g.74919952G>C | CA400962757 | USH1G | c.884C>G (p.Ser295Trp) c.*483C>G (n.*483C>G) c.575C>G (p.Ser192Trp) | |
| 17 | g.74919952G>T | CA400962753 | USH1G | c.884C>A (p.Ser295Ter) c.*483C>A (n.*483C>A) c.575C>A (p.Ser192Ter) | |
| 17 | g.74919953A>C | CA400962766 | USH1G | c.883T>G (p.Ser295Ala) c.*482T>G (n.*482T>G) c.574T>G (p.Ser192Ala) | dbSNP |
| 17 | g.74919953A>G | CA400962760 | USH1G | c.883T>C (p.Ser295Pro) c.*482T>C (n.*482T>C) c.574T>C (p.Ser192Pro) | |
| 17 | g.74919953A>T | CA400962763 | USH1G | c.883T>A (p.Ser295Thr) c.*482T>A (n.*482T>A) c.574T>A (p.Ser192Thr) | |
| 17 | g.74919954G>A | CA502036785 | USH1G | c.882C>T (p.His294=) c.*481C>T (n.*481C>T) c.573C>T (p.His191=) | |
| 17 | g.74919954G>C | CA400962768 | USH1G | c.882C>G (p.His294Gln) c.*481C>G (n.*481C>G) c.573C>G (p.His191Gln) | |
| 17 | g.74919954G>T | CA400962772 | USH1G | c.882C>A (p.His294Gln) c.*481C>A (n.*481C>A) c.573C>A (p.His191Gln) | |
| 17 | g.74919955T>A | CA400962774 | USH1G | c.881A>T (p.His294Leu) c.*480A>T (n.*480A>T) c.572A>T (p.His191Leu) | |
| 17 | g.74919955T>C | CA400962777 | USH1G | c.881A>G (p.His294Arg) c.*480A>G (n.*480A>G) c.572A>G (p.His191Arg) | |
| 17 | g.74919955T>G | CA400962779 | USH1G | c.881A>C (p.His294Pro) c.*480A>C (n.*480A>C) c.572A>C (p.His191Pro) | |
| 17 | g.74919956G>A | CA400962782 | USH1G | c.880C>T (p.His294Tyr) c.*479C>T (n.*479C>T) c.571C>T (p.His191Tyr) | |
| 17 | g.74919956G>C | CA8753979 | USH1G | c.880C>G (p.His294Asp) c.*479C>G (n.*479C>G) c.571C>G (p.His191Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919956G= | CA2275255355 | USH1G | c.880C= (p.His294=) c.*479C= (n.*479C=) c.571C= (p.His191=) | |
| 17 | g.74919956G>T | CA400962786 | USH1G | c.880C>A (p.His294Asn) c.*479C>A (n.*479C>A) c.571C>A (p.His191Asn) | |
| 17 | g.74919957G>A | CA502036790 | USH1G | c.879C>T (p.Ala293=) c.*478C>T (n.*478C>T) c.570C>T (p.Ala190=) | ClinVar dbSNP |
| 17 | g.74919957G>C | CA502036791 | USH1G | c.879C>G (p.Ala293=) c.*478C>G (n.*478C>G) c.570C>G (p.Ala190=) | |
| 17 | g.74919957G>T | CA502036792 | USH1G | c.879C>A (p.Ala293=) c.*478C>A (n.*478C>A) c.570C>A (p.Ala190=) | |
| 17 | g.74919958G>A | CA400962788 | USH1G | c.878C>T (p.Ala293Val) c.*477C>T (n.*477C>T) c.569C>T (p.Ala190Val) | dbSNP gnomAD v4 |
| 17 | g.74919958G>C | CA400962791 | USH1G | c.878C>G (p.Ala293Gly) c.*477C>G (n.*477C>G) c.569C>G (p.Ala190Gly) | |
| 17 | g.74919958G= | CA2275255356 | USH1G | c.878C= (p.Ala293=) c.*477C= (n.*477C=) c.569C= (p.Ala190=) | |
| 17 | g.74919958G>T | CA400962795 | USH1G | c.878C>A (p.Ala293Asp) c.*477C>A (n.*477C>A) c.569C>A (p.Ala190Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.74919959C>A | CA400962805 | USH1G | c.877G>T (p.Ala293Ser) c.*476G>T (n.*476G>T) c.568G>T (p.Ala190Ser) | |
| 17 | g.74919959C= | CA2275255357 | USH1G | c.877G= (p.Ala293=) c.*476G= (n.*476G=) c.568G= (p.Ala190=) | |
| 17 | g.74919959C>G | CA400962798 | USH1G | c.877G>C (p.Ala293Pro) c.*476G>C (n.*476G>C) c.568G>C (p.Ala190Pro) | |
| 17 | g.74919959C>T | CA400962802 | USH1G | c.877G>A (p.Ala293Thr) c.*476G>A (n.*476G>A) c.568G>A (p.Ala190Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.74919960A>C | CA502036802 | USH1G | c.876T>G (p.Pro292=) c.*475T>G (n.*475T>G) c.567T>G (p.Pro189=) | |
| 17 | g.74919960A>G | CA502036803 | USH1G | c.876T>C (p.Pro292=) c.*475T>C (n.*475T>C) c.567T>C (p.Pro189=) | |
| 17 | g.74919960A>T | CA502036804 | USH1G | c.876T>A (p.Pro292=) c.*475T>A (n.*475T>A) c.567T>A (p.Pro189=) | |
| 17 | g.74919961G>A | CA400962808 | USH1G | c.875C>T (p.Pro292Leu) c.*474C>T (n.*474C>T) c.566C>T (p.Pro189Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.74919961G>C | CA400962811 | USH1G | c.875C>G (p.Pro292Arg) c.*474C>G (n.*474C>G) c.566C>G (p.Pro189Arg) | |
| 17 | g.74919961G= | CA2275255358 | USH1G | c.875C= (p.Pro292=) c.*474C= (n.*474C=) c.566C= (p.Pro189=) | |
| 17 | g.74919961G>T | CA400962814 | USH1G | c.875C>A (p.Pro292His) c.*474C>A (n.*474C>A) c.566C>A (p.Pro189His) | |
| 17 | g.74919962G>A | CA400962817 | USH1G | c.874C>T (p.Pro292Ser) c.*473C>T (n.*473C>T) c.565C>T (p.Pro189Ser) | |
| 17 | g.74919962G>C | CA8753980 | USH1G | c.874C>G (p.Pro292Ala) c.*473C>G (n.*473C>G) c.565C>G (p.Pro189Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.74919962G= | CA2275255359 | USH1G | c.874C= (p.Pro292=) c.*473C= (n.*473C=) c.565C= (p.Pro189=) | |
| 17 | g.74919962G>T | CA400962819 | USH1G | c.874C>A (p.Pro292Thr) c.*473C>A (n.*473C>A) c.565C>A (p.Pro189Thr) | dbSNP gnomAD v4 |
| 17 | g.74919963C>A | CA400962822 | USH1G | c.873G>T (p.Glu291Asp) c.*472G>T (n.*472G>T) c.564G>T (p.Glu188Asp) | gnomAD v4 |
| 17 | g.74919963C= | CA2275255360 | USH1G | c.873G= (p.Glu291=) c.*472G= (n.*472G=) c.564G= (p.Glu188=) | |
| 17 | g.74919963C>G | CA400962824 | USH1G | c.873G>C (p.Glu291Asp) c.*472G>C (n.*472G>C) c.564G>C (p.Glu188Asp) | ClinVar dbSNP |
| 17 | g.74919963C>T | CA502036809 | USH1G | c.873G>A (p.Glu291=) c.*472G>A (n.*472G>A) c.564G>A (p.Glu188=) | dbSNP |
| 17 | g.74919964T>A | CA400962829 | USH1G | c.872A>T (p.Glu291Val) c.*471A>T (n.*471A>T) c.563A>T (p.Glu188Val) | |
| 17 | g.74919964T>C | CA400962831 | USH1G | c.872A>G (p.Glu291Gly) c.*471A>G (n.*471A>G) c.563A>G (p.Glu188Gly) | |
| 17 | g.74919964T>G | CA400962833 | USH1G | c.872A>C (p.Glu291Ala) c.*471A>C (n.*471A>C) c.563A>C (p.Glu188Ala) | |
| 17 | g.74919965C>A | CA400962843 | USH1G | c.871G>T (p.Glu291Ter) c.*470G>T (n.*470G>T) c.562G>T (p.Glu188Ter) | |
| 17 | g.74919965C= | CA2275255361 | USH1G | c.871G= (p.Glu291=) c.*470G= (n.*470G=) c.562G= (p.Glu188=) | |
| 17 | g.74919965C>G | CA400962839 | USH1G | c.871G>C (p.Glu291Gln) c.*470G>C (n.*470G>C) c.562G>C (p.Glu188Gln) | |
| 17 | g.74919965C>T | CA400962838 | USH1G | c.871G>A (p.Glu291Lys) c.*470G>A (n.*470G>A) c.562G>A (p.Glu188Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919966G>A | CA8753981 | USH1G | c.870C>T (p.Ala290=) c.*469C>T (n.*469C>T) c.561C>T (p.Ala187=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.74919966G>C | CA502036819 | USH1G | c.870C>G (p.Ala290=) c.*469C>G (n.*469C>G) c.561C>G (p.Ala187=) | |
| 17 | g.74919966G= | CA2275255362 | USH1G | c.870C= (p.Ala290=) c.*469C= (n.*469C=) c.561C= (p.Ala187=) | |
| 17 | g.74919966G>T | CA502036820 | USH1G | c.870C>A (p.Ala290=) c.*469C>A (n.*469C>A) c.561C>A (p.Ala187=) | |
| 17 | g.74919967G>A | CA400962848 | USH1G | c.869C>T (p.Ala290Val) c.*468C>T (n.*468C>T) c.560C>T (p.Ala187Val) | |
| 17 | g.74919967G>C | CA400962851 | USH1G | c.869C>G (p.Ala290Gly) c.*468C>G (n.*468C>G) c.560C>G (p.Ala187Gly) | |
| 17 | g.74919967G>T | CA400962852 | USH1G | c.869C>A (p.Ala290Asp) c.*468C>A (n.*468C>A) c.560C>A (p.Ala187Asp) | |
| 17 | g.74919968C>A | CA400962855 | USH1G | c.868G>T (p.Ala290Ser) c.*467G>T (n.*467G>T) c.559G>T (p.Ala187Ser) | gnomAD v4 |
| 17 | g.74919968C>G | CA400962857 | USH1G | c.868G>C (p.Ala290Pro) c.*467G>C (n.*467G>C) c.559G>C (p.Ala187Pro) | |
| 17 | g.74919968C>T | CA400962858 | USH1G | c.868G>A (p.Ala290Thr) c.*467G>A (n.*467G>A) c.559G>A (p.Ala187Thr) | |
| 17 | g.74919969C>A | CA502036822 | USH1G | c.867G>T (p.Ala289=) c.*466G>T (n.*466G>T) c.558G>T (p.Ala186=) | |
| 17 | g.74919969C= | CA2275255363 | USH1G | c.867G= (p.Ala289=) c.*466G= (n.*466G=) c.558G= (p.Ala186=) | |
| 17 | g.74919969C>G | CA502036824 | USH1G | c.867G>C (p.Ala289=) c.*466G>C (n.*466G>C) c.558G>C (p.Ala186=) | |
| 17 | g.74919969C>T | CA8753982 | USH1G | c.867G>A (p.Ala289=) c.*466G>A (n.*466G>A) c.558G>A (p.Ala186=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919970G>A | CA8753983 | USH1G | c.866C>T (p.Ala289Val) c.*465C>T (n.*465C>T) c.557C>T (p.Ala186Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.74919970G>C | CA400962865 | USH1G | c.866C>G (p.Ala289Gly) c.*465C>G (n.*465C>G) c.557C>G (p.Ala186Gly) | |
| 17 | g.74919970G= | CA2275255364 | USH1G | c.866C= (p.Ala289=) c.*465C= (n.*465C=) c.557C= (p.Ala186=) | |
| 17 | g.74919970G>T | CA400962867 | USH1G | c.866C>A (p.Ala289Glu) c.*465C>A (n.*465C>A) c.557C>A (p.Ala186Glu) | |
| 17 | g.74919971C>A | CA400962873 | USH1G | c.865G>T (p.Ala289Ser) c.*464G>T (n.*464G>T) c.556G>T (p.Ala186Ser) | |
| 17 | g.74919971C>G | CA400962875 | USH1G | c.865G>C (p.Ala289Pro) c.*464G>C (n.*464G>C) c.556G>C (p.Ala186Pro) | |
| 17 | g.74919971C>T | CA400962876 | USH1G | c.865G>A (p.Ala289Thr) c.*464G>A (n.*464G>A) c.556G>A (p.Ala186Thr) | |
| 17 | g.74919972C>A | CA502036831 | USH1G | c.864G>T (p.Leu288=) c.*463G>T (n.*463G>T) c.555G>T (p.Leu185=) | |
| 17 | g.74919972C>G | CA502036832 | USH1G | c.864G>C (p.Leu288=) c.*463G>C (n.*463G>C) c.555G>C (p.Leu185=) | |
| 17 | g.74919972C>T | CA502036830 | USH1G | c.864G>A (p.Leu288=) c.*463G>A (n.*463G>A) c.555G>A (p.Leu185=) | |
| 17 | g.74919973A>C | CA400962881 | USH1G | c.863T>G (p.Leu288Arg) c.*462T>G (n.*462T>G) c.554T>G (p.Leu185Arg) | |
| 17 | g.74919973A>G | CA400962885 | USH1G | c.863T>C (p.Leu288Pro) c.*462T>C (n.*462T>C) c.554T>C (p.Leu185Pro) | |
| 17 | g.74919973A>T | CA400962883 | USH1G | c.863T>A (p.Leu288Gln) c.*462T>A (n.*462T>A) c.554T>A (p.Leu185Gln) | |
| 17 | g.74919974G>A | CA502036836 | USH1G | c.862C>T (p.Leu288=) c.*461C>T (n.*461C>T) c.553C>T (p.Leu185=) | |
| 17 | g.74919974G>C | CA400962887 | USH1G | c.862C>G (p.Leu288Val) c.*461C>G (n.*461C>G) c.553C>G (p.Leu185Val) | |
| 17 | g.74919974G>T | CA400962889 | USH1G | c.862C>A (p.Leu288Met) c.*461C>A (n.*461C>A) c.553C>A (p.Leu185Met) | |
| 17 | g.74919975C>A | CA502036850 | USH1G | c.861G>T (p.Thr287=) c.*460G>T (n.*460G>T) c.552G>T (p.Thr184=) | gnomAD v4 |
| 17 | g.74919975C>G | CA502036847 | USH1G | c.861G>C (p.Thr287=) c.*460G>C (n.*460G>C) c.552G>C (p.Thr184=) | COSMIC |
| 17 | g.74919975C>T | CA502036849 | USH1G | c.861G>A (p.Thr287=) c.*460G>A (n.*460G>A) c.552G>A (p.Thr184=) | gnomAD v3 gnomAD v4 |
| 17 | g.74919976G>A | CA400962892 | USH1G | c.860C>T (p.Thr287Met) c.*459C>T (n.*459C>T) c.551C>T (p.Thr184Met) | ClinVar gnomAD v4 |
| 17 | g.74919976G>C | CA400962894 | USH1G | c.860C>G (p.Thr287Arg) c.*459C>G (n.*459C>G) c.551C>G (p.Thr184Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919976G= | CA2275255365 | USH1G | c.860C= (p.Thr287=) c.*459C= (n.*459C=) c.551C= (p.Thr184=) | |
| 17 | g.74919976G>T | CA400962897 | USH1G | c.860C>A (p.Thr287Lys) c.*459C>A (n.*459C>A) c.551C>A (p.Thr184Lys) | gnomAD v4 |
| 17 | g.74919977T>A | CA400962900 | USH1G | c.859A>T (p.Thr287Ser) c.*458A>T (n.*458A>T) c.550A>T (p.Thr184Ser) | |
| 17 | g.74919977T>C | CA8753984 | USH1G | c.859A>G (p.Thr287Ala) c.*458A>G (n.*458A>G) c.550A>G (p.Thr184Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919977T>G | CA400962905 | USH1G | c.859A>C (p.Thr287Pro) c.*458A>C (n.*458A>C) c.550A>C (p.Thr184Pro) | |
| 17 | g.74919977T= | CA2275255366 | USH1G | c.859A= (p.Thr287=) c.*458A= (n.*458A=) c.550A= (p.Thr184=) | |
| 17 | g.74919978G>A | CA502036857 | USH1G | c.858C>T (p.Ala286=) c.*457C>T (n.*457C>T) c.549C>T (p.Ala183=) | COSMIC |
| 17 | g.74919978G>C | CA8753985 | USH1G | c.858C>G (p.Ala286=) c.*457C>G (n.*457C>G) c.549C>G (p.Ala183=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.74919978G= | CA2275255367 | USH1G | c.858C= (p.Ala286=) c.*457C= (n.*457C=) c.549C= (p.Ala183=) | |
| 17 | g.74919978G>T | CA502036860 | USH1G | c.858C>A (p.Ala286=) c.*457C>A (n.*457C>A) c.549C>A (p.Ala183=) | |
| 17 | g.74919979G>A | CA400962911 | USH1G | c.857C>T (p.Ala286Val) c.*456C>T (n.*456C>T) c.548C>T (p.Ala183Val) | gnomAD v4 COSMIC |
| 17 | g.74919979G>C | CA400962913 | USH1G | c.857C>G (p.Ala286Gly) c.*456C>G (n.*456C>G) c.548C>G (p.Ala183Gly) | |
| 17 | g.74919979G>T | CA400962916 | USH1G | c.857C>A (p.Ala286Asp) c.*456C>A (n.*456C>A) c.548C>A (p.Ala183Asp) | |
| 17 | g.74919980C>A | CA400962923 | USH1G | c.856G>T (p.Ala286Ser) c.*455G>T (n.*455G>T) c.547G>T (p.Ala183Ser) | |
| 17 | g.74919980C>G | CA400962921 | USH1G | c.856G>C (p.Ala286Pro) c.*455G>C (n.*455G>C) c.547G>C (p.Ala183Pro) | |
| 17 | g.74919980C>T | CA400962918 | USH1G | c.856G>A (p.Ala286Thr) c.*455G>A (n.*455G>A) c.547G>A (p.Ala183Thr) | |
| 17 | g.74919981A= | CA2275255368 | USH1G | c.855T= (p.Arg285=) c.*454T= (n.*454T=) c.546T= (p.Arg182=) | |
| 17 | g.74919981A>C | CA502036862 | USH1G | c.855T>G (p.Arg285=) c.*454T>G (n.*454T>G) c.546T>G (p.Arg182=) | |
| 17 | g.74919981A>G | CA502036863 | USH1G | c.855T>C (p.Arg285=) c.*454T>C (n.*454T>C) c.546T>C (p.Arg182=) | |
| 17 | g.74919981A>T | CA502036870 | USH1G | c.855T>A (p.Arg285=) c.*454T>A (n.*454T>A) c.546T>A (p.Arg182=) | gnomAD v4 |
| 17 | g.74919982C>A | CA400962930 | USH1G | c.854G>T (p.Arg285Leu) c.*453G>T (n.*453G>T) c.545G>T (p.Arg182Leu) | |
| 17 | g.74919982C>G | CA400962927 | USH1G | c.854G>C (p.Arg285Pro) c.*453G>C (n.*453G>C) c.545G>C (p.Arg182Pro) | gnomAD v4 |
| 17 | g.74919982C>T | CA400962933 | USH1G | c.854G>A (p.Arg285His) c.*453G>A (n.*453G>A) c.545G>A (p.Arg182His) | |
| 17 | g.74919982dup | CA913190612 | USH1G | c.854dup (p.Ala286CysfsTer?) c.*453dup (n.*453dup) c.545dup (p.Ala183CysfsTer?) | ClinVar dbSNP gnomAD v4 |
| 17 | g.74919984_74919999del | CA2639747710 | USH1G | c.839_854del (p.Glu280ValfsTer?) c.*438_*453del (n.*438_*453del) c.530_545del (p.Glu177ValfsTer?) | gnomAD v4 |
| 17 | g.74919983G>A | CA400962936 | USH1G | c.853C>T (p.Arg285Cys) c.*452C>T (n.*452C>T) c.544C>T (p.Arg182Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919983G>C | CA400962938 | USH1G | c.853C>G (p.Arg285Gly) c.*452C>G (n.*452C>G) c.544C>G (p.Arg182Gly) | |
| 17 | g.74919983G= | CA2275255369 | USH1G | c.853C= (p.Arg285=) c.*452C= (n.*452C=) c.544C= (p.Arg182=) | |
| 17 | g.74919983G>T | CA400962941 | USH1G | c.853C>A (p.Arg285Ser) c.*452C>A (n.*452C>A) c.544C>A (p.Arg182Ser) | |
| 17 | g.74919984G>A | CA502036875 | USH1G | c.852C>T (p.Ser284=) c.*451C>T (n.*451C>T) c.543C>T (p.Ser181=) | COSMIC |
| 17 | g.74919984G>C | CA502036876 | USH1G | c.852C>G (p.Ser284=) c.*451C>G (n.*451C>G) c.543C>G (p.Ser181=) | |
| 17 | g.74919984G>T | CA502036878 | USH1G | c.852C>A (p.Ser284=) c.*451C>A (n.*451C>A) c.543C>A (p.Ser181=) | |
| 17 | g.74919984_74920004delinsGGAGACGCTGTCCTCGTCCGA | CA2275255370 | USH1G | c.832_852delinsTCGGACGAGGACAGCGTCTCC (p.Ser278=) c.*431_*451delinsTCGGACGAGGACAGCGTCTCC (n.*431_*451delinsTCGGACGAGGACAGCGTCTCC) c.523_543delinsTCGGACGAGGACAGCGTCTCC (p.Ser175=) | |
| 17 | g.74919985G>A | CA400962945 | USH1G | c.851C>T (p.Ser284Phe) c.*450C>T (n.*450C>T) c.542C>T (p.Ser181Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919985G>C | CA400962947 | USH1G | c.851C>G (p.Ser284Cys) c.*450C>G (n.*450C>G) c.542C>G (p.Ser181Cys) | ClinVar dbSNP |
| 17 | g.74919985G= | CA2275255371 | USH1G | c.851C= (p.Ser284=) c.*450C= (n.*450C=) c.542C= (p.Ser181=) | |
| 17 | g.74919985G>T | CA400962951 | USH1G | c.851C>A (p.Ser284Tyr) c.*450C>A (n.*450C>A) c.542C>A (p.Ser181Tyr) | |
| 17 | g.74919988_74920007del | CA340026 | USH1G | c.832_851del (p.Ser278ProfsTer?) c.*431_*450del (n.*431_*450del) c.523_542del (p.Ser175ProfsTer?) | ClinVar dbSNP |
| 17 | g.74919986A>C | CA400962957 | USH1G | c.850T>G (p.Ser284Ala) c.*449T>G (n.*449T>G) c.541T>G (p.Ser181Ala) | |
| 17 | g.74919986A>G | CA400962960 | USH1G | c.850T>C (p.Ser284Pro) c.*449T>C (n.*449T>C) c.541T>C (p.Ser181Pro) | |
| 17 | g.74919986A>T | CA400962959 | USH1G | c.850T>A (p.Ser284Thr) c.*449T>A (n.*449T>A) c.541T>A (p.Ser181Thr) | |
| 17 | g.74919987G>A | CA8753986 | USH1G | c.849C>T (p.Val283=) c.*448C>T (n.*448C>T) c.540C>T (p.Val180=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.74919987G>C | CA502036885 | USH1G | c.849C>G (p.Val283=) c.*448C>G (n.*448C>G) c.540C>G (p.Val180=) | |
| 17 | g.74919987G= | CA2275255372 | USH1G | c.849C= (p.Val283=) c.*448C= (n.*448C=) c.540C= (p.Val180=) | |
| 17 | g.74919987G>T | CA502036886 | USH1G | c.849C>A (p.Val283=) c.*448C>A (n.*448C>A) c.540C>A (p.Val180=) | |
| 17 | g.74919988A>C | CA400962967 | USH1G | c.848T>G (p.Val283Gly) c.*447T>G (n.*447T>G) c.539T>G (p.Val180Gly) | |
| 17 | g.74919988A>G | CA400962968 | USH1G | c.848T>C (p.Val283Ala) c.*447T>C (n.*447T>C) c.539T>C (p.Val180Ala) | |
| 17 | g.74919988A>T | CA400962970 | USH1G | c.848T>A (p.Val283Asp) c.*447T>A (n.*447T>A) c.539T>A (p.Val180Asp) | |
| 17 | g.74919989C>A | CA400962976 | USH1G | c.847G>T (p.Val283Phe) c.*446G>T (n.*446G>T) c.538G>T (p.Val180Phe) | |
| 17 | g.74919989C= | CA2275255373 | USH1G | c.847G= (p.Val283=) c.*446G= (n.*446G=) c.538G= (p.Val180=) | |
| 17 | g.74919989C>G | CA400962974 | USH1G | c.847G>C (p.Val283Leu) c.*446G>C (n.*446G>C) c.538G>C (p.Val180Leu) | |
| 17 | g.74919989C>T | CA400962975 | USH1G | c.847G>A (p.Val283Ile) c.*446G>A (n.*446G>A) c.538G>A (p.Val180Ile) | ClinVar dbSNP gnomAD v4 |
| 17 | g.74919990G>A | CA502036893 | USH1G | c.846C>T (p.Ser282=) c.*445C>T (n.*445C>T) c.537C>T (p.Ser179=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.74919990G>C | CA400962980 | USH1G | c.846C>G (p.Ser282Arg) c.*445C>G (n.*445C>G) c.537C>G (p.Ser179Arg) | |
| 17 | g.74919990G= | CA2275255374 | USH1G | c.846C= (p.Ser282=) c.*445C= (n.*445C=) c.537C= (p.Ser179=) | |
| 17 | g.74919990G>T | CA400962981 | USH1G | c.846C>A (p.Ser282Arg) c.*445C>A (n.*445C>A) c.537C>A (p.Ser179Arg) | gnomAD v4 |
| 17 | g.74919991C>A | CA400962983 | USH1G | c.845G>T (p.Ser282Ile) c.*444G>T (n.*444G>T) c.536G>T (p.Ser179Ile) | |
| 17 | g.74919991C= | CA2275255375 | USH1G | c.845G= (p.Ser282=) c.*444G= (n.*444G=) c.536G= (p.Ser179=) | |
| 17 | g.74919991C>G | CA8753987 | USH1G | c.845G>C (p.Ser282Thr) c.*444G>C (n.*444G>C) c.536G>C (p.Ser179Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.74919991C>T | CA400962985 | USH1G | c.845G>A (p.Ser282Asn) c.*444G>A (n.*444G>A) c.536G>A (p.Ser179Asn) | |
| 17 | g.74919992T>A | CA400962988 | USH1G | c.844A>T (p.Ser282Cys) c.*443A>T (n.*443A>T) c.535A>T (p.Ser179Cys) | |
| 17 | g.74919992T>C | CA8753988 | USH1G | c.844A>G (p.Ser282Gly) c.*443A>G (n.*443A>G) c.535A>G (p.Ser179Gly) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 17 | g.74919992T>G | CA400962992 | USH1G | c.844A>C (p.Ser282Arg) c.*443A>C (n.*443A>C) c.535A>C (p.Ser179Arg) | |
| 17 | g.74919992T= | CA2275255376 | USH1G | c.844A= (p.Ser282=) c.*443A= (n.*443A=) c.535A= (p.Ser179=) | |
| 17 | g.74919993G>A | CA502036900 | USH1G | c.843C>T (p.Asp281=) c.*442C>T (n.*442C>T) c.534C>T (p.Asp178=) | |
| 17 | g.74919993G>C | CA400962996 | USH1G | c.843C>G (p.Asp281Glu) c.*442C>G (n.*442C>G) c.534C>G (p.Asp178Glu) | |
| 17 | g.74919993G= | CA2275255377 | USH1G | c.843C= (p.Asp281=) c.*442C= (n.*442C=) c.534C= (p.Asp178=) | |
| 17 | g.74919993G>T | CA400962999 | USH1G | c.843C>A (p.Asp281Glu) c.*442C>A (n.*442C>A) c.534C>A (p.Asp178Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.74919994T>A | CA400963001 | USH1G | c.842A>T (p.Asp281Val) c.*441A>T (n.*441A>T) c.533A>T (p.Asp178Val) | |
| 17 | g.74919994T>C | CA400963004 | USH1G | c.842A>G (p.Asp281Gly) c.*441A>G (n.*441A>G) c.533A>G (p.Asp178Gly) | |
| 17 | g.74919994T>G | CA400963007 | USH1G | c.842A>C (p.Asp281Ala) c.*441A>C (n.*441A>C) c.533A>C (p.Asp178Ala) | |
| 17 | g.74919995C>A | CA400963010 | USH1G | c.841G>T (p.Asp281Tyr) c.*440G>T (n.*440G>T) c.532G>T (p.Asp178Tyr) | |
| 17 | g.74919995C= | CA2275255378 | USH1G | c.841G= (p.Asp281=) c.*440G= (n.*440G=) c.532G= (p.Asp178=) | |
| 17 | g.74919995C>G | CA400963014 | USH1G | c.841G>C (p.Asp281His) c.*440G>C (n.*440G>C) c.532G>C (p.Asp178His) | |
| 17 | g.74919995C>T | CA400963012 | USH1G | c.841G>A (p.Asp281Asn) c.*440G>A (n.*440G>A) c.532G>A (p.Asp178Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.74919996C>A | CA400963016 | USH1G | c.840G>T (p.Glu280Asp) c.*439G>T (n.*439G>T) c.531G>T (p.Glu177Asp) | |
| 17 | g.74919996C= | CA2275255379 | USH1G | c.840G= (p.Glu280=) c.*439G= (n.*439G=) c.531G= (p.Glu177=) | |
| 17 | g.74919996C>G | CA400963018 | USH1G | c.840G>C (p.Glu280Asp) c.*439G>C (n.*439G>C) c.531G>C (p.Glu177Asp) | gnomAD v4 |
| 17 | g.74919996C>T | CA8753989 | USH1G | c.840G>A (p.Glu280=) c.*439G>A (n.*439G>A) c.531G>A (p.Glu177=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.74919997T>A | CA400963021 | USH1G | c.839A>T (p.Glu280Val) c.*438A>T (n.*438A>T) c.530A>T (p.Glu177Val) | |
| 17 | g.74919997T>C | CA8753990 | USH1G | c.839A>G (p.Glu280Gly) c.*438A>G (n.*438A>G) c.530A>G (p.Glu177Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.74919997T>G | CA400963023 | USH1G | c.839A>C (p.Glu280Ala) c.*438A>C (n.*438A>C) c.530A>C (p.Glu177Ala) | |
| 17 | g.74919997T= | CA2275255380 | USH1G | c.839A= (p.Glu280=) c.*438A= (n.*438A=) c.530A= (p.Glu177=) | |
| 17 | g.74919998C>A | CA400963026 | USH1G | c.838G>T (p.Glu280Ter) c.*437G>T (n.*437G>T) c.529G>T (p.Glu177Ter) | |
| 17 | g.74919998C= | CA2275255381 | USH1G | c.838G= (p.Glu280=) c.*437G= (n.*437G=) c.529G= (p.Glu177=) | |
| 17 | g.74919998C>G | CA400963027 | USH1G | c.838G>C (p.Glu280Gln) c.*437G>C (n.*437G>C) c.529G>C (p.Glu177Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919998C>T | CA8753991 | USH1G | c.838G>A (p.Glu280Lys) c.*437G>A (n.*437G>A) c.529G>A (p.Glu177Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.74919999G>A | CA502036911 | USH1G | c.837C>T (p.Asp279=) c.*436C>T (n.*436C>T) c.528C>T (p.Asp176=) | dbSNP |
| 17 | g.74919999G>C | CA182580 | USH1G | c.837C>G (p.Asp279Glu) c.*436C>G (n.*436C>G) c.528C>G (p.Asp176Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919999G= | CA2275255382 | USH1G | c.837C= (p.Asp279=) c.*436C= (n.*436C=) c.528C= (p.Asp176=) | |
| 17 | g.74919999G>T | CA400963030 | USH1G | c.837C>A (p.Asp279Glu) c.*436C>A (n.*436C>A) c.528C>A (p.Asp176Glu) | |
| 17 | g.74920000T>A | CA400963035 | USH1G | c.836A>T (p.Asp279Val) c.*435A>T (n.*435A>T) c.527A>T (p.Asp176Val) | |
| 17 | g.74920000T>C | CA400963034 | USH1G | c.836A>G (p.Asp279Gly) c.*435A>G (n.*435A>G) c.527A>G (p.Asp176Gly) | |
| 17 | g.74920000T>G | CA400963032 | USH1G | c.836A>C (p.Asp279Ala) c.*435A>C (n.*435A>C) c.527A>C (p.Asp176Ala) | |
| 17 | g.74920001C>A | CA400963037 | USH1G | c.835G>T (p.Asp279Tyr) c.*434G>T (n.*434G>T) c.526G>T (p.Asp176Tyr) | |
| 17 | g.74920001C>G | CA400963039 | USH1G | c.835G>C (p.Asp279His) c.*434G>C (n.*434G>C) c.526G>C (p.Asp176His) | |
| 17 | g.74920001C>T | CA400963041 | USH1G | c.835G>A (p.Asp279Asn) c.*434G>A (n.*434G>A) c.526G>A (p.Asp176Asn) | COSMIC |
| 17 | g.74920002C>A | CA502036917 | USH1G | c.834G>T (p.Ser278=) c.*433G>T (n.*433G>T) c.525G>T (p.Ser175=) | |
| 17 | g.74920002C= | CA2275255383 | USH1G | c.834G= (p.Ser278=) c.*433G= (n.*433G=) c.525G= (p.Ser175=) | |
| 17 | g.74920002C>G | CA502036918 | USH1G | c.834G>C (p.Ser278=) c.*433G>C (n.*433G>C) c.525G>C (p.Ser175=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.74920002C>T | CA502036919 | USH1G | c.834G>A (p.Ser278=) c.*433G>A (n.*433G>A) c.525G>A (p.Ser175=) | dbSNP gnomAD v4 |
| 17 | g.74920003G>A | CA400963043 | USH1G | c.833C>T (p.Ser278Leu) c.*432C>T (n.*432C>T) c.524C>T (p.Ser175Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74920003G>C | CA400963045 | USH1G | c.833C>G (p.Ser278Trp) c.*432C>G (n.*432C>G) c.524C>G (p.Ser175Trp) | |
| 17 | g.74920003G= | CA2275255384 | USH1G | c.833C= (p.Ser278=) c.*432C= (n.*432C=) c.524C= (p.Ser175=) | |
| 17 | g.74920003G>T | CA400963046 | USH1G | c.833C>A (p.Ser278Ter) c.*432C>A (n.*432C>A) c.524C>A (p.Ser175Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.74920004A>C | CA400963048 | USH1G | c.832T>G (p.Ser278Ala) c.*431T>G (n.*431T>G) c.523T>G (p.Ser175Ala) | |
| 17 | g.74920004A>G | CA400963050 | USH1G | c.832T>C (p.Ser278Pro) c.*431T>C (n.*431T>C) c.523T>C (p.Ser175Pro) | |
| 17 | g.74920004A>T | CA400963051 | USH1G | c.832T>A (p.Ser278Thr) c.*431T>A (n.*431T>A) c.523T>A (p.Ser175Thr) | |
| 17 | g.74920005G>A | CA502036926 | USH1G | c.831C>T (p.Leu277=) c.*430C>T (n.*430C>T) c.522C>T (p.Leu174=) | |
| 17 | g.74920005G>C | CA502036928 | USH1G | c.831C>G (p.Leu277=) c.*430C>G (n.*430C>G) c.522C>G (p.Leu174=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74920005G= | CA2275255385 | USH1G | c.831C= (p.Leu277=) c.*430C= (n.*430C=) c.522C= (p.Leu174=) | |
| 17 | g.74920005G>T | CA502036929 | USH1G | c.831C>A (p.Leu277=) c.*430C>A (n.*430C>A) c.522C>A (p.Leu174=) | |
| 17 | g.74920006A>C | CA400963053 | USH1G | c.830T>G (p.Leu277Arg) c.*429T>G (n.*429T>G) c.521T>G (p.Leu174Arg) | |
| 17 | g.74920006A>G | CA400963055 | USH1G | c.830T>C (p.Leu277Pro) c.*429T>C (n.*429T>C) c.521T>C (p.Leu174Pro) | |
| 17 | g.74920006A>T | CA400963057 | USH1G | c.830T>A (p.Leu277His) c.*429T>A (n.*429T>A) c.521T>A (p.Leu174His) | |
| 17 | g.74920007G>A | CA293984107 | USH1G | c.829C>T (p.Leu277Phe) c.*428C>T (n.*428C>T) c.520C>T (p.Leu174Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.74920007G>C | CA400963061 | USH1G | c.829C>G (p.Leu277Val) c.*428C>G (n.*428C>G) c.520C>G (p.Leu174Val) | gnomAD v4 |
| 17 | g.74920007G= | CA2275255386 | USH1G | c.829C= (p.Leu277=) c.*428C= (n.*428C=) c.520C= (p.Leu174=) | |
| 17 | g.74920007G>T | CA400963059 | USH1G | c.829C>A (p.Leu277Ile) c.*428C>A (n.*428C>A) c.520C>A (p.Leu174Ile) | |
| 17 | g.74920008G>A | CA502036932 | USH1G | c.828C>T (p.Phe276=) c.*427C>T (n.*427C>T) c.519C>T (p.Phe173=) | |
| 17 | g.74920008G>C | CA400963064 | USH1G | c.828C>G (p.Phe276Leu) c.*427C>G (n.*427C>G) c.519C>G (p.Phe173Leu) | |
| 17 | g.74920008G>T | CA400963065 | USH1G | c.828C>A (p.Phe276Leu) c.*427C>A (n.*427C>A) c.519C>A (p.Phe173Leu) | |
| 17 | g.74920009A>C | CA400963067 | USH1G | c.827T>G (p.Phe276Cys) c.*426T>G (n.*426T>G) c.518T>G (p.Phe173Cys) | |
| 17 | g.74920009A>G | CA400963069 | USH1G | c.827T>C (p.Phe276Ser) c.*426T>C (n.*426T>C) c.518T>C (p.Phe173Ser) | |
| 17 | g.74920009A>T | CA400963070 | USH1G | c.827T>A (p.Phe276Tyr) c.*426T>A (n.*426T>A) c.518T>A (p.Phe173Tyr) |