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.74919802C>A | CA400962001 | USH1G | c.1034G>T (p.Arg345Leu) c.*633G>T (n.*633G>T) c.725G>T (p.Arg242Leu) | gnomAD v4 |
| 17 | g.74919802C>G | CA400962002 | USH1G | c.1034G>C (p.Arg345Pro) c.*633G>C (n.*633G>C) c.725G>C (p.Arg242Pro) | |
| 17 | g.74919802C>T | CA400962004 | USH1G | c.1034G>A (p.Arg345Gln) c.*633G>A (n.*633G>A) c.725G>A (p.Arg242Gln) | gnomAD v4 |
| 17 | g.74919803G>A | CA8753945 | USH1G | c.1033C>T (p.Arg345Trp) c.*632C>T (n.*632C>T) c.724C>T (p.Arg242Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919803G>C | CA400962007 | USH1G | c.1033C>G (p.Arg345Gly) c.*632C>G (n.*632C>G) c.724C>G (p.Arg242Gly) | |
| 17 | g.74919803G= | CA2275255270 | USH1G | c.1033C= (p.Arg345=) c.*632C= (n.*632C=) c.724C= (p.Arg242=) | |
| 17 | g.74919803G>T | CA502036466 | USH1G | c.1033C>A (p.Arg345=) c.*632C>A (n.*632C>A) c.724C>A (p.Arg242=) | |
| 17 | g.74919804A>C | CA502036469 | USH1G | c.1032T>G (p.Gly344=) c.*631T>G (n.*631T>G) c.723T>G (p.Gly241=) | |
| 17 | g.74919804A>G | CA502036470 | USH1G | c.1032T>C (p.Gly344=) c.*631T>C (n.*631T>C) c.723T>C (p.Gly241=) | gnomAD v4 |
| 17 | g.74919804A>T | CA502036471 | USH1G | c.1032T>A (p.Gly344=) c.*631T>A (n.*631T>A) c.723T>A (p.Gly241=) | |
| 17 | g.74919805C>A | CA400962011 | USH1G | c.1031G>T (p.Gly344Val) c.*630G>T (n.*630G>T) c.722G>T (p.Gly241Val) | gnomAD v4 |
| 17 | g.74919805C= | CA2275255271 | USH1G | c.1031G= (p.Gly344=) c.*630G= (n.*630G=) c.722G= (p.Gly241=) | |
| 17 | g.74919805C>G | CA400962012 | USH1G | c.1031G>C (p.Gly344Ala) c.*630G>C (n.*630G>C) c.722G>C (p.Gly241Ala) | |
| 17 | g.74919805C>T | CA400962013 | USH1G | c.1031G>A (p.Gly344Asp) c.*630G>A (n.*630G>A) c.722G>A (p.Gly241Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.74919806C>A | CA400962014 | USH1G | c.1030G>T (p.Gly344Cys) c.*629G>T (n.*629G>T) c.721G>T (p.Gly241Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919806C= | CA2275255272 | USH1G | c.1030G= (p.Gly344=) c.*629G= (n.*629G=) c.721G= (p.Gly241=) | |
| 17 | g.74919806C>G | CA400962015 | USH1G | c.1030G>C (p.Gly344Arg) c.*629G>C (n.*629G>C) c.721G>C (p.Gly241Arg) | gnomAD v4 |
| 17 | g.74919806C>T | CA400962016 | USH1G | c.1030G>A (p.Gly344Ser) c.*629G>A (n.*629G>A) c.721G>A (p.Gly241Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.74919807C>A | CA502036474 | USH1G | c.1029G>T (p.Arg343=) c.*628G>T (n.*628G>T) c.720G>T (p.Arg240=) | |
| 17 | g.74919807C>G | CA502036475 | USH1G | c.1029G>C (p.Arg343=) c.*628G>C (n.*628G>C) c.720G>C (p.Arg240=) | |
| 17 | g.74919807C>T | CA502036477 | USH1G | c.1029G>A (p.Arg343=) c.*628G>A (n.*628G>A) c.720G>A (p.Arg240=) | |
| 17 | g.74919808_74919810del | CA2639747219 | USH1G | c.1027_1029del (p.Arg343del) c.*626_*628del (n.*626_*628del) c.718_720del (p.Arg240del) | gnomAD v4 |
| 17 | g.74919808C>A | CA400962017 | USH1G | c.1028G>T (p.Arg343Leu) c.*627G>T (n.*627G>T) c.719G>T (p.Arg240Leu) | |
| 17 | g.74919808C>G | CA400962018 | USH1G | c.1028G>C (p.Arg343Pro) c.*627G>C (n.*627G>C) c.719G>C (p.Arg240Pro) | |
| 17 | g.74919808C>T | CA400962019 | USH1G | c.1028G>A (p.Arg343Gln) c.*627G>A (n.*627G>A) c.719G>A (p.Arg240Gln) | |
| 17 | g.74919809G>A | CA400962020 | USH1G | c.1027C>T (p.Arg343Trp) c.*626C>T (n.*626C>T) c.718C>T (p.Arg240Trp) | gnomAD v4 COSMIC |
| 17 | g.74919809G>C | CA400962021 | USH1G | c.1027C>G (p.Arg343Gly) c.*626C>G (n.*626C>G) c.718C>G (p.Arg240Gly) | |
| 17 | g.74919809G>T | CA502036481 | USH1G | c.1027C>A (p.Arg343=) c.*626C>A (n.*626C>A) c.718C>A (p.Arg240=) | |
| 17 | g.74919810C>A | CA502036482 | USH1G | c.1026G>T (p.Pro342=) c.*625G>T (n.*625G>T) c.717G>T (p.Pro239=) | |
| 17 | g.74919810C= | CA2275255273 | USH1G | c.1026G= (p.Pro342=) c.*625G= (n.*625G=) c.717G= (p.Pro239=) | |
| 17 | g.74919810C>G | CA502036483 | USH1G | c.1026G>C (p.Pro342=) c.*625G>C (n.*625G>C) c.717G>C (p.Pro239=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.74919810C>T | CA502036484 | USH1G | c.1026G>A (p.Pro342=) c.*625G>A (n.*625G>A) c.717G>A (p.Pro239=) | COSMIC |
| 17 | g.74919811G>A | CA400962022 | USH1G | c.1025C>T (p.Pro342Leu) c.*624C>T (n.*624C>T) c.716C>T (p.Pro239Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.74919811G>C | CA8753946 | USH1G | c.1025C>G (p.Pro342Arg) c.*624C>G (n.*624C>G) c.716C>G (p.Pro239Arg) | dbSNP ExAC gnomAD v2 |
| 17 | g.74919811G= | CA2275255274 | USH1G | c.1025C= (p.Pro342=) c.*624C= (n.*624C=) c.716C= (p.Pro239=) | |
| 17 | g.74919811G>T | CA400962023 | USH1G | c.1025C>A (p.Pro342Gln) c.*624C>A (n.*624C>A) c.716C>A (p.Pro239Gln) | |
| 17 | g.74919812G>A | CA8753947 | USH1G | c.1024C>T (p.Pro342Ser) c.*623C>T (n.*623C>T) c.715C>T (p.Pro239Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.74919812G>C | CA400962025 | USH1G | c.1024C>G (p.Pro342Ala) c.*623C>G (n.*623C>G) c.715C>G (p.Pro239Ala) | |
| 17 | g.74919812G= | CA2275255275 | USH1G | c.1024C= (p.Pro342=) c.*623C= (n.*623C=) c.715C= (p.Pro239=) | |
| 17 | g.74919812G>T | CA400962024 | USH1G | c.1024C>A (p.Pro342Thr) c.*623C>A (n.*623C>A) c.715C>A (p.Pro239Thr) | |
| 17 | g.74919813C>A | CA502036488 | USH1G | c.1023G>T (p.Ala341=) c.*622G>T (n.*622G>T) c.714G>T (p.Ala238=) | gnomAD v4 COSMIC |
| 17 | g.74919813C= | CA2275255276 | USH1G | c.1023G= (p.Ala341=) c.*622G= (n.*622G=) c.714G= (p.Ala238=) | |
| 17 | g.74919813C>G | CA502036489 | USH1G | c.1023G>C (p.Ala341=) c.*622G>C (n.*622G>C) c.714G>C (p.Ala238=) | |
| 17 | g.74919813C>T | CA502036490 | USH1G | c.1023G>A (p.Ala341=) c.*622G>A (n.*622G>A) c.714G>A (p.Ala238=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919814G>A | CA8753948 | USH1G | c.1022C>T (p.Ala341Val) c.*621C>T (n.*621C>T) c.713C>T (p.Ala238Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.74919814G>C | CA400962027 | USH1G | c.1022C>G (p.Ala341Gly) c.*621C>G (n.*621C>G) c.713C>G (p.Ala238Gly) | |
| 17 | g.74919814G= | CA2275255277 | USH1G | c.1022C= (p.Ala341=) c.*621C= (n.*621C=) c.713C= (p.Ala238=) | |
| 17 | g.74919814G>T | CA400962026 | USH1G | c.1022C>A (p.Ala341Glu) c.*621C>A (n.*621C>A) c.713C>A (p.Ala238Glu) | ClinVar dbSNP |
| 17 | g.74919815C>A | CA400962028 | USH1G | c.1021G>T (p.Ala341Ser) c.*620G>T (n.*620G>T) c.712G>T (p.Ala238Ser) | |
| 17 | g.74919815C= | CA2275255278 | USH1G | c.1021G= (p.Ala341=) c.*620G= (n.*620G=) c.712G= (p.Ala238=) | |
| 17 | g.74919815C>G | CA400962029 | USH1G | c.1021G>C (p.Ala341Pro) c.*620G>C (n.*620G>C) c.712G>C (p.Ala238Pro) | |
| 17 | g.74919815C>T | CA8753949 | USH1G | c.1021G>A (p.Ala341Thr) c.*620G>A (n.*620G>A) c.712G>A (p.Ala238Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.74919815_74919816insGGCC | CA2018007680 | USH1G | c.1021_1022insGCCG (p.Ala341GlyfsTer16) c.*620_*621insGCCG (n.*620_*621insGCCG) c.712_713insGCCG (p.Ala238GlyfsTer16) | |
| 17 | g.74919815_74919816insGGCCCC | CA1139769894 | USH1G | c.1021_1022insGGGCCG (p.Gly340_Ala341insGlyAla) c.*620_*621insGGGCCG (n.*620_*621insGGGCCG) c.712_713insGGGCCG (p.Gly237_Ala238insGlyAla) | dbSNP |
| 17 | g.74919815_74919816insGGCCCCC | CA1139532984 | USH1G | c.1021_1022insGGGGCCG (p.Ala341GlyfsTer17) c.*620_*621insGGGGCCG (n.*620_*621insGGGGCCG) c.712_713insGGGGCCG (p.Ala238GlyfsTer17) | |
| 17 | g.74919815_74919816insGGCCCCCCCCCCCCCCCCCCC | CA1139532957 | USH1G | c.1021_1022insGGGGGGGGGGGGGGGGGGCCG (p.Gly340_Ala341insGlyGlyGlyGlyGlyGlyAla) c.*620_*621insGGGGGGGGGGGGGGGGGGCCG (n.*620_*621insGGGGGGGGGGGGGGGGGGCCG) c.712_713insGGGGGGGGGGGGGGGGGGCCG (p.Gly237_Ala238insGlyGlyGlyGlyGlyGlyAla) | |
| 17 | g.74919815_74919816insG | CA1139769799 | USH1G | c.1020_1021insC (p.Ala341ArgfsTer15) c.*619_*620insC (n.*619_*620insC) c.711_712insC (p.Ala238ArgfsTer15) | dbSNP |
| 17 | g.74919816T>A | CA502036494 | USH1G | c.1020A>T (p.Gly340=) c.*619A>T (n.*619A>T) c.711A>T (p.Gly237=) | |
| 17 | g.74919816T>C | CA502036495 | USH1G | c.1020A>G (p.Gly340=) c.*619A>G (n.*619A>G) c.711A>G (p.Gly237=) | dbSNP |
| 17 | g.74919816T>G | CA502036496 | USH1G | c.1020A>C (p.Gly340=) c.*619A>C (n.*619A>C) c.711A>C (p.Gly237=) | dbSNP |
| 17 | g.74919816_74919817insG | CA1139655035 | USH1G | c.1019_1020insC (p.Ala341SerfsTer15) c.*618_*619insC (n.*618_*619insC) c.710_711insC (p.Ala238SerfsTer15) | dbSNP |
| 17 | g.74919816_74919817insGCCCCC | CA2573331842 | USH1G | c.1019_1020insGGGGGC (p.Gly340_Ala341insGlyAla) c.*618_*619insGGGGGC (n.*618_*619insGGGGGC) c.710_711insGGGGGC (p.Gly237_Ala238insGlyAla) | dbSNP |
| 17 | g.74919817C>A | CA400962030 | USH1G | c.1019G>T (p.Gly340Val) c.*618G>T (n.*618G>T) c.710G>T (p.Gly237Val) | |
| 17 | g.74919817C= | CA2275255279 | USH1G | c.1019G= (p.Gly340=) c.*618G= (n.*618G=) c.710G= (p.Gly237=) | |
| 17 | g.74919817C>G | CA400962031 | USH1G | c.1019G>C (p.Gly340Ala) c.*618G>C (n.*618G>C) c.710G>C (p.Gly237Ala) | dbSNP |
| 17 | g.74919817C>T | CA8753950 | USH1G | c.1019G>A (p.Gly340Glu) c.*618G>A (n.*618G>A) c.710G>A (p.Gly237Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919819dup | CA1139769937 | USH1G | c.1019dup (p.Ala341SerfsTer15) c.*618dup (n.*618dup) c.710dup (p.Ala238SerfsTer15) | dbSNP |
| 17 | g.74919819del | CA2639747249 | USH1G | c.1019del (p.Gly340GlufsTer?) c.*618del (n.*618del) c.710del (p.Gly237GlufsTer?) | gnomAD v4 |
| 17 | g.74919818C>A | CA400962032 | USH1G | c.1018G>T (p.Gly340Ter) c.*617G>T (n.*617G>T) c.709G>T (p.Gly237Ter) | |
| 17 | g.74919818C>G | CA400962033 | USH1G | c.1018G>C (p.Gly340Arg) c.*617G>C (n.*617G>C) c.709G>C (p.Gly237Arg) | |
| 17 | g.74919818C>T | CA400962034 | USH1G | c.1018G>A (p.Gly340Arg) c.*617G>A (n.*617G>A) c.709G>A (p.Gly237Arg) | |
| 17 | g.74919819C>A | CA502036500 | USH1G | c.1017G>T (p.Val339=) c.*616G>T (n.*616G>T) c.708G>T (p.Val236=) | |
| 17 | g.74919819C>G | CA502036498 | USH1G | c.1017G>C (p.Val339=) c.*616G>C (n.*616G>C) c.708G>C (p.Val236=) | |
| 17 | g.74919819C>T | CA502036499 | USH1G | c.1017G>A (p.Val339=) c.*616G>A (n.*616G>A) c.708G>A (p.Val236=) | gnomAD v4 |
| 17 | g.74919820del | CA923726283 | USH1G | c.1016del (p.Val339GlyfsTer?) c.*615del (n.*615del) c.707del (p.Val236GlyfsTer?) | |
| 17 | g.74919820A= | CA2275255280 | USH1G | c.1016T= (p.Val339=) c.*615T= (n.*615T=) c.707T= (p.Val236=) | |
| 17 | g.74919820A>C | CA400962035 | USH1G | c.1016T>G (p.Val339Gly) c.*615T>G (n.*615T>G) c.707T>G (p.Val236Gly) | dbSNP |
| 17 | g.74919820A>G | CA400962036 | USH1G | c.1016T>C (p.Val339Ala) c.*615T>C (n.*615T>C) c.707T>C (p.Val236Ala) | |
| 17 | g.74919820A>T | CA400962037 | USH1G | c.1016T>A (p.Val339Glu) c.*615T>A (n.*615T>A) c.707T>A (p.Val236Glu) | |
| 17 | g.74919820dup | CA2499224916 | USH1G | c.1016dup (p.Ala341SerfsTer15) c.*615dup (n.*615dup) c.707dup (p.Ala238SerfsTer15) | ClinVar dbSNP |
| 17 | g.74919821C>A | CA400962038 | USH1G | c.1015G>T (p.Val339Leu) c.*614G>T (n.*614G>T) c.706G>T (p.Val236Leu) | |
| 17 | g.74919821C= | CA2275255281 | USH1G | c.1015G= (p.Val339=) c.*614G= (n.*614G=) c.706G= (p.Val236=) | |
| 17 | g.74919821C>G | CA400962039 | USH1G | c.1015G>C (p.Val339Leu) c.*614G>C (n.*614G>C) c.706G>C (p.Val236Leu) | |
| 17 | g.74919821C>T | CA8753951 | USH1G | c.1015G>A (p.Val339Met) c.*614G>A (n.*614G>A) c.706G>A (p.Val236Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919824dup | CA2734173533 | USH1G | c.1015dup (p.Val339GlyfsTer17) c.*614dup (n.*614dup) c.706dup (p.Val236GlyfsTer17) | dbSNP |
| 17 | g.74919822C>A | CA502036506 | USH1G | c.1014G>T (p.Gly338=) c.*613G>T (n.*613G>T) c.705G>T (p.Gly235=) | |
| 17 | g.74919822C>G | CA502036507 | USH1G | c.1014G>C (p.Gly338=) c.*613G>C (n.*613G>C) c.705G>C (p.Gly235=) | gnomAD v4 |
| 17 | g.74919822C>T | CA502036508 | USH1G | c.1014G>A (p.Gly338=) c.*613G>A (n.*613G>A) c.705G>A (p.Gly235=) | gnomAD v4 |
| 17 | g.74919823C>A | CA400962045 | USH1G | c.1013G>T (p.Gly338Val) c.*612G>T (n.*612G>T) c.704G>T (p.Gly235Val) | |
| 17 | g.74919823C>G | CA400962043 | USH1G | c.1013G>C (p.Gly338Ala) c.*612G>C (n.*612G>C) c.704G>C (p.Gly235Ala) | |
| 17 | g.74919823C>T | CA400962041 | USH1G | c.1013G>A (p.Gly338Glu) c.*612G>A (n.*612G>A) c.704G>A (p.Gly235Glu) | |
| 17 | g.74919823_74919824delinsTT | CA645598977 | USH1G | c.1012_1013delinsAA (p.Gly338Lys) c.*611_*612delinsAA (n.*611_*612delinsAA) c.703_704delinsAA (p.Gly235Lys) | COSMIC |
| 17 | g.74919824C>A | CA400962046 | USH1G | c.1012G>T (p.Gly338Trp) c.*611G>T (n.*611G>T) c.703G>T (p.Gly235Trp) | |
| 17 | g.74919824C= | CA2275255282 | USH1G | c.1012G= (p.Gly338=) c.*611G= (n.*611G=) c.703G= (p.Gly235=) | |
| 17 | g.74919824C>G | CA400962048 | USH1G | c.1012G>C (p.Gly338Arg) c.*611G>C (n.*611G>C) c.703G>C (p.Gly235Arg) | |
| 17 | g.74919824C>T | CA182578 | USH1G | c.1012G>A (p.Gly338Arg) c.*611G>A (n.*611G>A) c.703G>A (p.Gly235Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919825A= | CA2275255283 | USH1G | c.1011T= (p.Asp337=) c.*610T= (n.*610T=) c.702T= (p.Asp234=) | |
| 17 | g.74919825A>C | CA400962051 | USH1G | c.1011T>G (p.Asp337Glu) c.*610T>G (n.*610T>G) c.702T>G (p.Asp234Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.74919825A>G | CA502036513 | USH1G | c.1011T>C (p.Asp337=) c.*610T>C (n.*610T>C) c.702T>C (p.Asp234=) | dbSNP |
| 17 | g.74919825A>T | CA400962052 | USH1G | c.1011T>A (p.Asp337Glu) c.*610T>A (n.*610T>A) c.702T>A (p.Asp234Glu) | |
| 17 | g.74919825_74919826del | CA1139770327 | USH1G | c.1010_1011del (p.Asp337GlyfsTer18) c.*609_*610del (n.*609_*610del) c.701_702del (p.Asp234GlyfsTer18) | dbSNP |
| 17 | g.74919826del | CA2734173596 | USH1G | c.1010del (p.Asp337ValfsTer?) c.*609del (n.*609del) c.701del (p.Asp234ValfsTer?) | dbSNP |
| 17 | g.74919826T>A | CA400962055 | USH1G | c.1010A>T (p.Asp337Val) c.*609A>T (n.*609A>T) c.701A>T (p.Asp234Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.74919826T>C | CA400962057 | USH1G | c.1010A>G (p.Asp337Gly) c.*609A>G (n.*609A>G) c.701A>G (p.Asp234Gly) | dbSNP |
| 17 | g.74919826T>G | CA400962058 | USH1G | c.1010A>C (p.Asp337Ala) c.*609A>C (n.*609A>C) c.701A>C (p.Asp234Ala) | |
| 17 | g.74919827C>A | CA400962060 | USH1G | c.1009G>T (p.Asp337Tyr) c.*608G>T (n.*608G>T) c.700G>T (p.Asp234Tyr) | |
| 17 | g.74919827C>G | CA400962062 | USH1G | c.1009G>C (p.Asp337His) c.*608G>C (n.*608G>C) c.700G>C (p.Asp234His) | gnomAD v4 |
| 17 | g.74919827C>T | CA400962064 | USH1G | c.1009G>A (p.Asp337Asn) c.*608G>A (n.*608G>A) c.700G>A (p.Asp234Asn) | COSMIC |
| 17 | g.74919828C>A | CA502036517 | USH1G | c.1008G>T (p.Leu336=) c.*607G>T (n.*607G>T) c.699G>T (p.Leu233=) | |
| 17 | g.74919828C= | CA2275255284 | USH1G | c.1008G= (p.Leu336=) c.*607G= (n.*607G=) c.699G= (p.Leu233=) | |
| 17 | g.74919828C>G | CA502036518 | USH1G | c.1008G>C (p.Leu336=) c.*607G>C (n.*607G>C) c.699G>C (p.Leu233=) | |
| 17 | g.74919828C>T | CA502036519 | USH1G | c.1008G>A (p.Leu336=) c.*607G>A (n.*607G>A) c.699G>A (p.Leu233=) | dbSNP |
| 17 | g.74919829A= | CA2275255285 | USH1G | c.1007T= (p.Leu336=) c.*606T= (n.*606T=) c.698T= (p.Leu233=) | |
| 17 | g.74919829A>C | CA400962066 | USH1G | c.1007T>G (p.Leu336Arg) c.*606T>G (n.*606T>G) c.698T>G (p.Leu233Arg) | dbSNP |
| 17 | g.74919829A>G | CA400962068 | USH1G | c.1007T>C (p.Leu336Pro) c.*606T>C (n.*606T>C) c.698T>C (p.Leu233Pro) | |
| 17 | g.74919829A>T | CA400962065 | USH1G | c.1007T>A (p.Leu336Gln) c.*606T>A (n.*606T>A) c.698T>A (p.Leu233Gln) | |
| 17 | g.74919829_74919831del | CA1139770328 | USH1G | c.1005_1007del (p.Leu336del) c.*604_*606del (n.*604_*606del) c.696_698del (p.Leu233del) | |
| 17 | g.74919830G>A | CA293983828 | USH1G | c.1006C>T (p.Leu336=) c.*605C>T (n.*605C>T) c.697C>T (p.Leu233=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.74919830G>C | CA400962071 | USH1G | c.1006C>G (p.Leu336Val) c.*605C>G (n.*605C>G) c.697C>G (p.Leu233Val) | |
| 17 | g.74919830G= | CA2275255286 | USH1G | c.1006C= (p.Leu336=) c.*605C= (n.*605C=) c.697C= (p.Leu233=) | |
| 17 | g.74919830G>T | CA400962072 | USH1G | c.1006C>A (p.Leu336Met) c.*605C>A (n.*605C>A) c.697C>A (p.Leu233Met) | |
| 17 | g.74919831A= | CA2275255287 | USH1G | c.1005T= (p.Gly335=) c.*604T= (n.*604T=) c.696T= (p.Gly232=) | |
| 17 | g.74919831A>C | CA502036523 | USH1G | c.1005T>G (p.Gly335=) c.*604T>G (n.*604T>G) c.696T>G (p.Gly232=) | dbSNP |
| 17 | g.74919831A>G | CA502036524 | USH1G | c.1005T>C (p.Gly335=) c.*604T>C (n.*604T>C) c.696T>C (p.Gly232=) | |
| 17 | g.74919831A>T | CA502036525 | USH1G | c.1005T>A (p.Gly335=) c.*604T>A (n.*604T>A) c.696T>A (p.Gly232=) | |
| 17 | g.74919832C>A | CA400962075 | USH1G | c.1004G>T (p.Gly335Val) c.*603G>T (n.*603G>T) c.695G>T (p.Gly232Val) | |
| 17 | g.74919832C= | CA2275255288 | USH1G | c.1004G= (p.Gly335=) c.*603G= (n.*603G=) c.695G= (p.Gly232=) | |
| 17 | g.74919832C>G | CA400962076 | USH1G | c.1004G>C (p.Gly335Ala) c.*603G>C (n.*603G>C) c.695G>C (p.Gly232Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919832C>T | CA400962078 | USH1G | c.1004G>A (p.Gly335Asp) c.*603G>A (n.*603G>A) c.695G>A (p.Gly232Asp) | gnomAD v4 |
| 17 | g.74919836dup | CA775052994 | USH1G | c.1004dup (p.Leu336SerfsTer20) c.*603dup (n.*603dup) c.695dup (p.Leu233SerfsTer20) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.74919836del | CA2697555153 | USH1G | c.1004del (p.Gly335ValfsTer?) c.*603del (n.*603del) c.695del (p.Gly232ValfsTer?) | ClinVar |
| 17 | g.74919833C>A | CA400962080 | USH1G | c.1003G>T (p.Gly335Cys) c.*602G>T (n.*602G>T) c.694G>T (p.Gly232Cys) | |
| 17 | g.74919833C>G | CA400962082 | USH1G | c.1003G>C (p.Gly335Arg) c.*602G>C (n.*602G>C) c.694G>C (p.Gly232Arg) | |
| 17 | g.74919833C>T | CA400962084 | USH1G | c.1003G>A (p.Gly335Ser) c.*602G>A (n.*602G>A) c.694G>A (p.Gly232Ser) | |
| 17 | g.74919833_74919834insAGT | CA2810423906 | USH1G | c.1002_1003insACT (p.Gly334_Gly335insThr) c.*601_*602insACT (n.*601_*602insACT) c.693_694insACT (p.Gly231_Gly232insThr) | |
| 17 | g.74919834C>A | CA502036532 | USH1G | c.1002G>T (p.Gly334=) c.*601G>T (n.*601G>T) c.693G>T (p.Gly231=) | |
| 17 | g.74919834C>G | CA502036533 | USH1G | c.1002G>C (p.Gly334=) c.*601G>C (n.*601G>C) c.693G>C (p.Gly231=) | |
| 17 | g.74919834C>T | CA502036534 | USH1G | c.1002G>A (p.Gly334=) c.*601G>A (n.*601G>A) c.693G>A (p.Gly231=) | |
| 17 | g.74919835C>A | CA400962086 | USH1G | c.1001G>T (p.Gly334Val) c.*600G>T (n.*600G>T) c.692G>T (p.Gly231Val) | |
| 17 | g.74919835C>G | CA400962087 | USH1G | c.1001G>C (p.Gly334Ala) c.*600G>C (n.*600G>C) c.692G>C (p.Gly231Ala) | ClinVar |
| 17 | g.74919835C>T | CA400962089 | USH1G | c.1001G>A (p.Gly334Glu) c.*600G>A (n.*600G>A) c.692G>A (p.Gly231Glu) | |
| 17 | g.74919835_74919836insGG | CA2517861350 | USH1G | c.1000_1001insCC (p.Gly334AlafsTer?) c.*599_*600insCC (n.*599_*600insCC) c.691_692insCC (p.Gly231AlafsTer?) | |
| 17 | g.74919836C>A | CA400962092 | USH1G | c.1000G>T (p.Gly334Trp) c.*599G>T (n.*599G>T) c.691G>T (p.Gly231Trp) | gnomAD v4 |
| 17 | g.74919836C>G | CA400962093 | USH1G | c.1000G>C (p.Gly334Arg) c.*599G>C (n.*599G>C) c.691G>C (p.Gly231Arg) | gnomAD v4 |
| 17 | g.74919836C>T | CA400962090 | USH1G | c.1000G>A (p.Gly334Arg) c.*599G>A (n.*599G>A) c.691G>A (p.Gly231Arg) | gnomAD v4 |
| 17 | g.74919837A= | CA2275255289 | USH1G | c.999T= (p.Asp333=) c.*598T= (n.*598T=) c.690T= (p.Asp230=) | |
| 17 | g.74919837A>C | CA400962096 | USH1G | c.999T>G (p.Asp333Glu) c.*598T>G (n.*598T>G) c.690T>G (p.Asp230Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.74919837A>G | CA502036542 | USH1G | c.999T>C (p.Asp333=) c.*598T>C (n.*598T>C) c.690T>C (p.Asp230=) | |
| 17 | g.74919837A>T | CA400962097 | USH1G | c.999T>A (p.Asp333Glu) c.*598T>A (n.*598T>A) c.690T>A (p.Asp230Glu) | |
| 17 | g.74919837_74919838del | CA2018007633 | USH1G | c.998_999del (p.Asp333GlyfsTer22) c.*597_*598del (n.*597_*598del) c.689_690del (p.Asp230GlyfsTer22) | |
| 17 | g.74919838T>A | CA400962100 | USH1G | c.998A>T (p.Asp333Val) c.*597A>T (n.*597A>T) c.689A>T (p.Asp230Val) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.74919838T>C | CA400962101 | USH1G | c.998A>G (p.Asp333Gly) c.*597A>G (n.*597A>G) c.689A>G (p.Asp230Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.74919838T>G | CA400962103 | USH1G | c.998A>C (p.Asp333Ala) c.*597A>C (n.*597A>C) c.689A>C (p.Asp230Ala) | |
| 17 | g.74919838T= | CA2275255290 | USH1G | c.998A= (p.Asp333=) c.*597A= (n.*597A=) c.689A= (p.Asp230=) | |
| 17 | g.74919839C>A | CA400962108 | USH1G | c.997G>T (p.Asp333Tyr) c.*596G>T (n.*596G>T) c.688G>T (p.Asp230Tyr) | |
| 17 | g.74919839C= | CA2275255291 | USH1G | c.997G= (p.Asp333=) c.*596G= (n.*596G=) c.688G= (p.Asp230=) | |
| 17 | g.74919839C>G | CA400962105 | USH1G | c.997G>C (p.Asp333His) c.*596G>C (n.*596G>C) c.688G>C (p.Asp230His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.74919839C>T | CA293983833 | USH1G | c.997G>A (p.Asp333Asn) c.*596G>A (n.*596G>A) c.688G>A (p.Asp230Asn) | dbSNP |
| 17 | g.74919840C>A | CA400962110 | USH1G | c.996G>T (p.Glu332Asp) c.*595G>T (n.*595G>T) c.687G>T (p.Glu229Asp) | gnomAD v4 |
| 17 | g.74919840C= | CA2275255292 | USH1G | c.996G= (p.Glu332=) c.*595G= (n.*595G=) c.687G= (p.Glu229=) | |
| 17 | g.74919840C>G | CA8753952 | USH1G | c.996G>C (p.Glu332Asp) c.*595G>C (n.*595G>C) c.687G>C (p.Glu229Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.74919840C>T | CA8753953 | USH1G | c.996G>A (p.Glu332=) c.*595G>A (n.*595G>A) c.687G>A (p.Glu229=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.74919841T>A | CA400962114 | USH1G | c.995A>T (p.Glu332Val) c.*594A>T (n.*594A>T) c.686A>T (p.Glu229Val) | gnomAD v4 |
| 17 | g.74919841T>C | CA400962116 | USH1G | c.995A>G (p.Glu332Gly) c.*594A>G (n.*594A>G) c.686A>G (p.Glu229Gly) | |
| 17 | g.74919841T>G | CA400962118 | USH1G | c.995A>C (p.Glu332Ala) c.*594A>C (n.*594A>C) c.686A>C (p.Glu229Ala) | |
| 17 | g.74919842C>A | CA400962121 | USH1G | c.994G>T (p.Glu332Ter) c.*593G>T (n.*593G>T) c.685G>T (p.Glu229Ter) | |
| 17 | g.74919842C= | CA2275255293 | USH1G | c.994G= (p.Glu332=) c.*593G= (n.*593G=) c.685G= (p.Glu229=) | |
| 17 | g.74919842C>G | CA400962123 | USH1G | c.994G>C (p.Glu332Gln) c.*593G>C (n.*593G>C) c.685G>C (p.Glu229Gln) | |
| 17 | g.74919842C>T | CA8753954 | USH1G | c.994G>A (p.Glu332Lys) c.*593G>A (n.*593G>A) c.685G>A (p.Glu229Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.74919843G>A | CA502036552 | USH1G | c.993C>T (p.Arg331=) c.*592C>T (n.*592C>T) c.684C>T (p.Arg228=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919843G>C | CA502036554 | USH1G | c.993C>G (p.Arg331=) c.*592C>G (n.*592C>G) c.684C>G (p.Arg228=) | |
| 17 | g.74919843G= | CA2275255294 | USH1G | c.993C= (p.Arg331=) c.*592C= (n.*592C=) c.684C= (p.Arg228=) | |
| 17 | g.74919843G>T | CA502036556 | USH1G | c.993C>A (p.Arg331=) c.*592C>A (n.*592C>A) c.684C>A (p.Arg228=) | |
| 17 | g.74919845_74919858dup | CA2695226990 | USH1G | c.980_993dup (p.Glu332ThrfsTer?) c.*579_*592dup (n.*579_*592dup) c.671_684dup (p.Glu229ThrfsTer?) | |
| 17 | g.74919844C>A | CA293983854 | USH1G | c.992G>T (p.Arg331Leu) c.*591G>T (n.*591G>T) c.683G>T (p.Arg228Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.74919844C= | CA2275255295 | USH1G | c.992G= (p.Arg331=) c.*591G= (n.*591G=) c.683G= (p.Arg228=) | |
| 17 | g.74919844C>G | CA400962125 | USH1G | c.992G>C (p.Arg331Pro) c.*591G>C (n.*591G>C) c.683G>C (p.Arg228Pro) | |
| 17 | g.74919844C>T | CA293983855 | USH1G | c.992G>A (p.Arg331His) c.*591G>A (n.*591G>A) c.683G>A (p.Arg228His) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.74919845G>A | CA8753955 | USH1G | c.991C>T (p.Arg331Cys) c.*590C>T (n.*590C>T) c.682C>T (p.Arg228Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919845G>C | CA400962129 | USH1G | c.991C>G (p.Arg331Gly) c.*590C>G (n.*590C>G) c.682C>G (p.Arg228Gly) | |
| 17 | g.74919845G= | CA2275255296 | USH1G | c.991C= (p.Arg331=) c.*590C= (n.*590C=) c.682C= (p.Arg228=) | |
| 17 | g.74919845G>T | CA400962131 | USH1G | c.991C>A (p.Arg331Ser) c.*590C>A (n.*590C>A) c.682C>A (p.Arg228Ser) | |
| 17 | g.74919846G>A | CA502036561 | USH1G | c.990C>T (p.Gly330=) c.*589C>T (n.*589C>T) c.681C>T (p.Gly227=) | gnomAD v4 |
| 17 | g.74919846G>C | CA502036562 | USH1G | c.990C>G (p.Gly330=) c.*589C>G (n.*589C>G) c.681C>G (p.Gly227=) | |
| 17 | g.74919846G>T | CA502036563 | USH1G | c.990C>A (p.Gly330=) c.*589C>A (n.*589C>A) c.681C>A (p.Gly227=) | |
| 17 | g.74919847C>A | CA400962133 | USH1G | c.989G>T (p.Gly330Val) c.*588G>T (n.*588G>T) c.680G>T (p.Gly227Val) | |
| 17 | g.74919847C>G | CA400962135 | USH1G | c.989G>C (p.Gly330Ala) c.*588G>C (n.*588G>C) c.680G>C (p.Gly227Ala) | |
| 17 | g.74919847C>T | CA400962136 | USH1G | c.989G>A (p.Gly330Asp) c.*588G>A (n.*588G>A) c.680G>A (p.Gly227Asp) | gnomAD v4 |
| 17 | g.74919848C>A | CA400962139 | USH1G | c.988G>T (p.Gly330Cys) c.*587G>T (n.*587G>T) c.679G>T (p.Gly227Cys) | |
| 17 | g.74919848C>G | CA400962140 | USH1G | c.988G>C (p.Gly330Arg) c.*587G>C (n.*587G>C) c.679G>C (p.Gly227Arg) | ClinVar |
| 17 | g.74919848C>T | CA400962141 | USH1G | c.988G>A (p.Gly330Ser) c.*587G>A (n.*587G>A) c.679G>A (p.Gly227Ser) | |
| 17 | g.74919849C>A | CA502036568 | USH1G | c.987G>T (p.Leu329=) c.*586G>T (n.*586G>T) c.678G>T (p.Leu226=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.74919849C= | CA2275255297 | USH1G | c.987G= (p.Leu329=) c.*586G= (n.*586G=) c.678G= (p.Leu226=) | |
| 17 | g.74919849C>G | CA502036569 | USH1G | c.987G>C (p.Leu329=) c.*586G>C (n.*586G>C) c.678G>C (p.Leu226=) | |
| 17 | g.74919849C>T | CA502036571 | USH1G | c.987G>A (p.Leu329=) c.*586G>A (n.*586G>A) c.678G>A (p.Leu226=) | |
| 17 | g.74919850A>C | CA400962146 | USH1G | c.986T>G (p.Leu329Arg) c.*585T>G (n.*585T>G) c.677T>G (p.Leu226Arg) | |
| 17 | g.74919850A>G | CA400962145 | USH1G | c.986T>C (p.Leu329Pro) c.*585T>C (n.*585T>C) c.677T>C (p.Leu226Pro) | |
| 17 | g.74919850A>T | CA400962142 | USH1G | c.986T>A (p.Leu329Gln) c.*585T>A (n.*585T>A) c.677T>A (p.Leu226Gln) | |
| 17 | g.74919851G>A | CA502036573 | USH1G | c.985C>T (p.Leu329=) c.*584C>T (n.*584C>T) c.676C>T (p.Leu226=) | dbSNP |
| 17 | g.74919851G>C | CA400962148 | USH1G | c.985C>G (p.Leu329Val) c.*584C>G (n.*584C>G) c.676C>G (p.Leu226Val) | |
| 17 | g.74919851G= | CA2275255298 | USH1G | c.985C= (p.Leu329=) c.*584C= (n.*584C=) c.676C= (p.Leu226=) | |
| 17 | g.74919851G>T | CA400962149 | USH1G | c.985C>A (p.Leu329Met) c.*584C>A (n.*584C>A) c.676C>A (p.Leu226Met) | ClinVar |
| 17 | g.74919852T>A | CA502036574 | USH1G | c.984A>T (p.Gly328=) c.*583A>T (n.*583A>T) c.675A>T (p.Gly225=) | |
| 17 | g.74919852T>C | CA502036575 | USH1G | c.984A>G (p.Gly328=) c.*583A>G (n.*583A>G) c.675A>G (p.Gly225=) | |
| 17 | g.74919852T>G | CA502036576 | USH1G | c.984A>C (p.Gly328=) c.*583A>C (n.*583A>C) c.675A>C (p.Gly225=) | |
| 17 | g.74919853C>A | CA8753956 | USH1G | c.983G>T (p.Gly328Val) c.*582G>T (n.*582G>T) c.674G>T (p.Gly225Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919853C= | CA2275255299 | USH1G | c.983G= (p.Gly328=) c.*582G= (n.*582G=) c.674G= (p.Gly225=) | |
| 17 | g.74919853C>G | CA400962153 | USH1G | c.983G>C (p.Gly328Ala) c.*582G>C (n.*582G>C) c.674G>C (p.Gly225Ala) | |
| 17 | g.74919853C>T | CA400962154 | USH1G | c.983G>A (p.Gly328Glu) c.*582G>A (n.*582G>A) c.674G>A (p.Gly225Glu) | gnomAD v4 COSMIC |
| 17 | g.74919854C>A | CA400962155 | USH1G | c.982G>T (p.Gly328Ter) c.*581G>T (n.*581G>T) c.673G>T (p.Gly225Ter) | |
| 17 | g.74919854C= | CA2275255300 | USH1G | c.982G= (p.Gly328=) c.*581G= (n.*581G=) c.673G= (p.Gly225=) | |
| 17 | g.74919854C>G | CA400962157 | USH1G | c.982G>C (p.Gly328Arg) c.*581G>C (n.*581G>C) c.673G>C (p.Gly225Arg) | |
| 17 | g.74919854C>T | CA400962159 | USH1G | c.982G>A (p.Gly328Arg) c.*581G>A (n.*581G>A) c.673G>A (p.Gly225Arg) | dbSNP gnomAD v4 |
| 17 | g.74919855G>A | CA502036578 | USH1G | c.981C>T (p.His327=) c.*580C>T (n.*580C>T) c.672C>T (p.His224=) | dbSNP COSMIC |
| 17 | g.74919855G>C | CA400962161 | USH1G | c.981C>G (p.His327Gln) c.*580C>G (n.*580C>G) c.672C>G (p.His224Gln) | dbSNP gnomAD v4 |
| 17 | g.74919855G= | CA2275255301 | USH1G | c.981C= (p.His327=) c.*580C= (n.*580C=) c.672C= (p.His224=) | |
| 17 | g.74919855G>T | CA400962163 | USH1G | c.981C>A (p.His327Gln) c.*580C>A (n.*580C>A) c.672C>A (p.His224Gln) | |
| 17 | g.74919856T>A | CA400962165 | USH1G | c.980A>T (p.His327Leu) c.*579A>T (n.*579A>T) c.671A>T (p.His224Leu) | |
| 17 | g.74919856T>C | CA400962168 | USH1G | c.980A>G (p.His327Arg) c.*579A>G (n.*579A>G) c.671A>G (p.His224Arg) | |
| 17 | g.74919856T>G | CA400962170 | USH1G | c.980A>C (p.His327Pro) c.*579A>C (n.*579A>C) c.671A>C (p.His224Pro) | |
| 17 | g.74919856dup | CA2639747370 | USH1G | c.980dup (p.His327GlnfsTer29) c.*579dup (n.*579dup) c.671dup (p.His224GlnfsTer29) | gnomAD v4 |
| 17 | g.74919857G>A | CA400962175 | USH1G | c.979C>T (p.His327Tyr) c.*578C>T (n.*578C>T) c.670C>T (p.His224Tyr) | |
| 17 | g.74919857G>C | CA400962177 | USH1G | c.979C>G (p.His327Asp) c.*578C>G (n.*578C>G) c.670C>G (p.His224Asp) | |
| 17 | g.74919857G>T | CA400962173 | USH1G | c.979C>A (p.His327Asn) c.*578C>A (n.*578C>A) c.670C>A (p.His224Asn) | |
| 17 | g.74919858C>A | CA502036580 | USH1G | c.978G>T (p.Leu326=) c.*577G>T (n.*577G>T) c.669G>T (p.Leu223=) | |
| 17 | g.74919858C>G | CA502036581 | USH1G | c.978G>C (p.Leu326=) c.*577G>C (n.*577G>C) c.669G>C (p.Leu223=) | |
| 17 | g.74919858C>T | CA502036582 | USH1G | c.978G>A (p.Leu326=) c.*577G>A (n.*577G>A) c.669G>A (p.Leu223=) | |
| 17 | g.74919859A>C | CA400962181 | USH1G | c.977T>G (p.Leu326Arg) c.*576T>G (n.*576T>G) c.668T>G (p.Leu223Arg) | |
| 17 | g.74919859A>G | CA400962185 | USH1G | c.977T>C (p.Leu326Pro) c.*576T>C (n.*576T>C) c.668T>C (p.Leu223Pro) | |
| 17 | g.74919859A>T | CA400962187 | USH1G | c.977T>A (p.Leu326Gln) c.*576T>A (n.*576T>A) c.668T>A (p.Leu223Gln) | |
| 17 | g.74919860G>A | CA502036587 | USH1G | c.976C>T (p.Leu326=) c.*575C>T (n.*575C>T) c.667C>T (p.Leu223=) | gnomAD v4 |
| 17 | g.74919860G>C | CA400962190 | USH1G | c.976C>G (p.Leu326Val) c.*575C>G (n.*575C>G) c.667C>G (p.Leu223Val) | |
| 17 | g.74919860G= | CA2275255303 | USH1G | c.976C= (p.Leu326=) c.*575C= (n.*575C=) c.667C= (p.Leu223=) | |
| 17 | g.74919860G>T | CA400962192 | USH1G | c.976C>A (p.Leu326Met) c.*575C>A (n.*575C>A) c.667C>A (p.Leu223Met) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.74919860_74919861delinsGC | CA2275255302 | USH1G | c.975_976delinsGC (p.Gly325=) c.*574_*575delinsGC (n.*574_*575delinsGC) c.666_667delinsGC (p.Gly222=) | |
| 17 | g.74919861C>A | CA502036588 | USH1G | c.975G>T (p.Gly325=) c.*574G>T (n.*574G>T) c.666G>T (p.Gly222=) | |
| 17 | g.74919861C= | CA2275255304 | USH1G | c.975G= (p.Gly325=) c.*574G= (n.*574G=) c.666G= (p.Gly222=) | |
| 17 | g.74919861C>G | CA502036590 | USH1G | c.975G>C (p.Gly325=) c.*574G>C (n.*574G>C) c.666G>C (p.Gly222=) | dbSNP |
| 17 | g.74919861C>T | CA8753958 | USH1G | c.975G>A (p.Gly325=) c.*574G>A (n.*574G>A) c.666G>A (p.Gly222=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919863del | CA8753957 | USH1G | c.975del (p.Leu326CysfsTer?) c.*574del (n.*574del) c.666del (p.Leu223CysfsTer?) | dbSNP ExAC gnomAD v2 |
| 17 | g.74919862C>A | CA400962200 | USH1G | c.974G>T (p.Gly325Val) c.*573G>T (n.*573G>T) c.665G>T (p.Gly222Val) | |
| 17 | g.74919862C= | CA2275255305 | USH1G | c.974G= (p.Gly325=) c.*573G= (n.*573G=) c.665G= (p.Gly222=) | |
| 17 | g.74919862C>G | CA400962203 | USH1G | c.974G>C (p.Gly325Ala) c.*573G>C (n.*573G>C) c.665G>C (p.Gly222Ala) | |
| 17 | g.74919862C>T | CA400962205 | USH1G | c.974G>A (p.Gly325Glu) c.*573G>A (n.*573G>A) c.665G>A (p.Gly222Glu) | |
| 17 | g.74919863C>A | CA400962208 | USH1G | c.973G>T (p.Gly325Trp) c.*572G>T (n.*572G>T) c.664G>T (p.Gly222Trp) | |
| 17 | g.74919863C>G | CA400962211 | USH1G | c.973G>C (p.Gly325Arg) c.*572G>C (n.*572G>C) c.664G>C (p.Gly222Arg) | |
| 17 | g.74919863C>T | CA400962213 | USH1G | c.973G>A (p.Gly325Arg) c.*572G>A (n.*572G>A) c.664G>A (p.Gly222Arg) | gnomAD v4 |
| 17 | g.74919863_74919866dup | CA2275255306 | USH1G | c.970_973dup (p.Gly325GlufsTer?) c.*569_*572dup (n.*569_*572dup) c.661_664dup (p.Gly222GlufsTer?) | dbSNP gnomAD v4 |
| 17 | g.74919864A= | CA2275255307 | USH1G | c.972T= (p.Ser324=) c.*571T= (n.*571T=) c.663T= (p.Ser221=) | |
| 17 | g.74919864A>C | CA400962221 | USH1G | c.972T>G (p.Ser324Arg) c.*571T>G (n.*571T>G) c.663T>G (p.Ser221Arg) | |
| 17 | g.74919864A>G | CA10577041 | USH1G | c.972T>C (p.Ser324=) c.*571T>C (n.*571T>C) c.663T>C (p.Ser221=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919864A>T | CA400962217 | USH1G | c.972T>A (p.Ser324Arg) c.*571T>A (n.*571T>A) c.663T>A (p.Ser221Arg) | |
| 17 | g.74919865C>A | CA400962224 | USH1G | c.971G>T (p.Ser324Ile) c.*570G>T (n.*570G>T) c.662G>T (p.Ser221Ile) | |
| 17 | g.74919865C>G | CA400962226 | USH1G | c.971G>C (p.Ser324Thr) c.*570G>C (n.*570G>C) c.662G>C (p.Ser221Thr) | |
| 17 | g.74919865C>T | CA400962229 | USH1G | c.971G>A (p.Ser324Asn) c.*570G>A (n.*570G>A) c.662G>A (p.Ser221Asn) | |
| 17 | g.74919866T>A | CA400962233 | USH1G | c.970A>T (p.Ser324Cys) c.*569A>T (n.*569A>T) c.661A>T (p.Ser221Cys) | |
| 17 | g.74919866T>C | CA400962235 | USH1G | c.970A>G (p.Ser324Gly) c.*569A>G (n.*569A>G) c.661A>G (p.Ser221Gly) | |
| 17 | g.74919866T>G | CA400962237 | USH1G | c.970A>C (p.Ser324Arg) c.*569A>C (n.*569A>C) c.661A>C (p.Ser221Arg) | |
| 17 | g.74919867G>A | CA502036599 | USH1G | c.969C>T (p.Ser323=) c.*568C>T (n.*568C>T) c.660C>T (p.Ser220=) | gnomAD v4 |
| 17 | g.74919867G>C | CA400962240 | USH1G | c.969C>G (p.Ser323Arg) c.*568C>G (n.*568C>G) c.660C>G (p.Ser220Arg) | |
| 17 | g.74919867G>T | CA400962241 | USH1G | c.969C>A (p.Ser323Arg) c.*568C>A (n.*568C>A) c.660C>A (p.Ser220Arg) | |
| 17 | g.74919868C>A | CA400962242 | USH1G | c.968G>T (p.Ser323Ile) c.*567G>T (n.*567G>T) c.659G>T (p.Ser220Ile) | |
| 17 | g.74919868C= | CA2275255308 | USH1G | c.968G= (p.Ser323=) c.*567G= (n.*567G=) c.659G= (p.Ser220=) | |
| 17 | g.74919868C>G | CA8753959 | USH1G | c.968G>C (p.Ser323Thr) c.*567G>C (n.*567G>C) c.659G>C (p.Ser220Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919868C>T | CA400962243 | USH1G | c.968G>A (p.Ser323Asn) c.*567G>A (n.*567G>A) c.659G>A (p.Ser220Asn) | |
| 17 | g.74919869T>A | CA400962245 | USH1G | c.967A>T (p.Ser323Cys) c.*566A>T (n.*566A>T) c.658A>T (p.Ser220Cys) | |
| 17 | g.74919869T>C | CA400962246 | USH1G | c.967A>G (p.Ser323Gly) c.*566A>G (n.*566A>G) c.658A>G (p.Ser220Gly) | |
| 17 | g.74919869T>G | CA400962248 | USH1G | c.967A>C (p.Ser323Arg) c.*566A>C (n.*566A>C) c.658A>C (p.Ser220Arg) | |
| 17 | g.74919870C>A | CA400962249 | USH1G | c.966G>T (p.Leu322Phe) c.*565G>T (n.*565G>T) c.657G>T (p.Leu219Phe) | |
| 17 | g.74919870C= | CA2275255309 | USH1G | c.966G= (p.Leu322=) c.*565G= (n.*565G=) c.657G= (p.Leu219=) | |
| 17 | g.74919870C>G | CA400962252 | USH1G | c.966G>C (p.Leu322Phe) c.*565G>C (n.*565G>C) c.657G>C (p.Leu219Phe) | |
| 17 | g.74919870C>T | CA502036607 | USH1G | c.966G>A (p.Leu322=) c.*565G>A (n.*565G>A) c.657G>A (p.Leu219=) | ClinVar dbSNP |
| 17 | g.74919871A>C | CA400962257 | USH1G | c.965T>G (p.Leu322Trp) c.*564T>G (n.*564T>G) c.656T>G (p.Leu219Trp) | ClinVar dbSNP |
| 17 | g.74919871A>G | CA400962258 | USH1G | c.965T>C (p.Leu322Ser) c.*564T>C (n.*564T>C) c.656T>C (p.Leu219Ser) | gnomAD v4 |
| 17 | g.74919871A>T | CA400962261 | USH1G | c.965T>A (p.Leu322Ter) c.*564T>A (n.*564T>A) c.656T>A (p.Leu219Ter) | |
| 17 | g.74919872A>C | CA400962263 | USH1G | c.964T>G (p.Leu322Val) c.*563T>G (n.*563T>G) c.655T>G (p.Leu219Val) | |
| 17 | g.74919872A>G | CA502036611 | USH1G | c.964T>C (p.Leu322=) c.*563T>C (n.*563T>C) c.655T>C (p.Leu219=) | gnomAD v4 |
| 17 | g.74919872A>T | CA400962266 | USH1G | c.964T>A (p.Leu322Met) c.*563T>A (n.*563T>A) c.655T>A (p.Leu219Met) | |
| 17 | g.74919873G>A | CA502036614 | USH1G | c.963C>T (p.Tyr321=) c.*562C>T (n.*562C>T) c.654C>T (p.Tyr218=) | gnomAD v4 |
| 17 | g.74919873G>C | CA400962269 | USH1G | c.963C>G (p.Tyr321Ter) c.*562C>G (n.*562C>G) c.654C>G (p.Tyr218Ter) | |
| 17 | g.74919873G>T | CA400962271 | USH1G | c.963C>A (p.Tyr321Ter) c.*562C>A (n.*562C>A) c.654C>A (p.Tyr218Ter) | |
| 17 | g.74919874T>A | CA400962279 | USH1G | c.962A>T (p.Tyr321Phe) c.*561A>T (n.*561A>T) c.653A>T (p.Tyr218Phe) | dbSNP gnomAD v2 |
| 17 | g.74919874T>C | CA400962275 | USH1G | c.962A>G (p.Tyr321Cys) c.*561A>G (n.*561A>G) c.653A>G (p.Tyr218Cys) | |
| 17 | g.74919874T>G | CA400962277 | USH1G | c.962A>C (p.Tyr321Ser) c.*561A>C (n.*561A>C) c.653A>C (p.Tyr218Ser) | |
| 17 | g.74919874T= | CA2275255310 | USH1G | c.962A= (p.Tyr321=) c.*561A= (n.*561A=) c.653A= (p.Tyr218=) | |
| 17 | g.74919875A= | CA2275255311 | USH1G | c.961T= (p.Tyr321=) c.*560T= (n.*560T=) c.652T= (p.Tyr218=) | |
| 17 | g.74919875A>C | CA400962284 | USH1G | c.961T>G (p.Tyr321Asp) c.*560T>G (n.*560T>G) c.652T>G (p.Tyr218Asp) | |
| 17 | g.74919875A>G | CA400962287 | USH1G | c.961T>C (p.Tyr321His) c.*560T>C (n.*560T>C) c.652T>C (p.Tyr218His) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.74919875A>T | CA400962290 | USH1G | c.961T>A (p.Tyr321Asn) c.*560T>A (n.*560T>A) c.652T>A (p.Tyr218Asn) | |
| 17 | g.74919876A>C | CA400962292 | USH1G | c.960T>G (p.Asn320Lys) c.*559T>G (n.*559T>G) c.651T>G (p.Asn217Lys) | |
| 17 | g.74919876A>G | CA502036619 | USH1G | c.960T>C (p.Asn320=) c.*559T>C (n.*559T>C) c.651T>C (p.Asn217=) | |
| 17 | g.74919876A>T | CA400962294 | USH1G | c.960T>A (p.Asn320Lys) c.*559T>A (n.*559T>A) c.651T>A (p.Asn217Lys) | |
| 17 | g.74919876_74919877delinsAT | CA2275255312 | USH1G | c.959_960delinsAT (p.Asn320=) c.*558_*559delinsAT (n.*558_*559delinsAT) c.650_651delinsAT (p.Asn217=) | |
| 17 | g.74919876_74919880delinsT | CA2695200334 | USH1G | c.956_960delinsA (p.Arg319AsnfsTer3) c.*555_*559delinsA (n.*555_*559delinsA) c.647_651delinsA (p.Arg216AsnfsTer3) | ClinVar |
| 17 | g.74919877T>A | CA400962306 | USH1G | c.959A>T (p.Asn320Ile) c.*558A>T (n.*558A>T) c.650A>T (p.Asn217Ile) | |
| 17 | g.74919877T>C | CA400962299 | USH1G | c.959A>G (p.Asn320Ser) c.*558A>G (n.*558A>G) c.650A>G (p.Asn217Ser) | |
| 17 | g.74919877T>G | CA400962303 | USH1G | c.959A>C (p.Asn320Thr) c.*558A>C (n.*558A>C) c.650A>C (p.Asn217Thr) | |
| 17 | g.74919879del | CA8753960 | USH1G | c.959del (p.Asn320IlefsTer3) c.*558del (n.*558del) c.650del (p.Asn217IlefsTer3) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.74919878T>A | CA400962308 | USH1G | c.958A>T (p.Asn320Tyr) c.*557A>T (n.*557A>T) c.649A>T (p.Asn217Tyr) | |
| 17 | g.74919878T>C | CA8753961 | USH1G | c.958A>G (p.Asn320Asp) c.*557A>G (n.*557A>G) c.649A>G (p.Asn217Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919878T>G | CA400962312 | USH1G | c.958A>C (p.Asn320His) c.*557A>C (n.*557A>C) c.649A>C (p.Asn217His) | |
| 17 | g.74919878T= | CA2275255313 | USH1G | c.958A= (p.Asn320=) c.*557A= (n.*557A=) c.649A= (p.Asn217=) | |
| 17 | g.74919879T>A | CA400962315 | USH1G | c.957A>T (p.Arg319Ser) c.*556A>T (n.*556A>T) c.648A>T (p.Arg216Ser) | |
| 17 | g.74919879T>C | CA502036623 | USH1G | c.957A>G (p.Arg319=) c.*556A>G (n.*556A>G) c.648A>G (p.Arg216=) | |
| 17 | g.74919879T>G | CA400962318 | USH1G | c.957A>C (p.Arg319Ser) c.*556A>C (n.*556A>C) c.648A>C (p.Arg216Ser) | |
| 17 | g.74919880C>A | CA400962321 | USH1G | c.956G>T (p.Arg319Ile) c.*555G>T (n.*555G>T) c.647G>T (p.Arg216Ile) | dbSNP |
| 17 | g.74919880C= | CA2275255314 | USH1G | c.956G= (p.Arg319=) c.*555G= (n.*555G=) c.647G= (p.Arg216=) | |
| 17 | g.74919880C>G | CA400962324 | USH1G | c.956G>C (p.Arg319Thr) c.*555G>C (n.*555G>C) c.647G>C (p.Arg216Thr) | |
| 17 | g.74919880C>T | CA400962326 | USH1G | c.956G>A (p.Arg319Lys) c.*555G>A (n.*555G>A) c.647G>A (p.Arg216Lys) | |
| 17 | g.74919881T>A | CA400962328 | USH1G | c.955A>T (p.Arg319Ter) c.*554A>T (n.*554A>T) c.646A>T (p.Arg216Ter) | |
| 17 | g.74919881T>C | CA8753962 | USH1G | c.955A>G (p.Arg319Gly) c.*554A>G (n.*554A>G) c.646A>G (p.Arg216Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919881T>G | CA502036630 | USH1G | c.955A>C (p.Arg319=) c.*554A>C (n.*554A>C) c.646A>C (p.Arg216=) | |
| 17 | g.74919881T= | CA2275255315 | USH1G | c.955A= (p.Arg319=) c.*554A= (n.*554A=) c.646A= (p.Arg216=) | |
| 17 | g.74919882G>A | CA502036631 | USH1G | c.954C>T (p.Arg318=) c.*553C>T (n.*553C>T) c.645C>T (p.Arg215=) | |
| 17 | g.74919882G>C | CA502036632 | USH1G | c.954C>G (p.Arg318=) c.*553C>G (n.*553C>G) c.645C>G (p.Arg215=) | |
| 17 | g.74919882G>T | CA502036633 | USH1G | c.954C>A (p.Arg318=) c.*553C>A (n.*553C>A) c.645C>A (p.Arg215=) | |
| 17 | g.74919883C>A | CA400962335 | USH1G | c.953G>T (p.Arg318Leu) c.*552G>T (n.*552G>T) c.644G>T (p.Arg215Leu) | |
| 17 | g.74919883C= | CA2275255316 | USH1G | c.953G= (p.Arg318=) c.*552G= (n.*552G=) c.644G= (p.Arg215=) | |
| 17 | g.74919883C>G | CA400962336 | USH1G | c.953G>C (p.Arg318Pro) c.*552G>C (n.*552G>C) c.644G>C (p.Arg215Pro) | |
| 17 | g.74919883C>T | CA293983904 | USH1G | c.953G>A (p.Arg318His) c.*552G>A (n.*552G>A) c.644G>A (p.Arg215His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919884G>A | CA400962343 | USH1G | c.952C>T (p.Arg318Cys) c.*551C>T (n.*551C>T) c.643C>T (p.Arg215Cys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.74919884G>C | CA400962345 | USH1G | c.952C>G (p.Arg318Gly) c.*551C>G (n.*551C>G) c.643C>G (p.Arg215Gly) | |
| 17 | g.74919884G= | CA2275255317 | USH1G | c.952C= (p.Arg318=) c.*551C= (n.*551C=) c.643C= (p.Arg215=) | |
| 17 | g.74919884G>T | CA293983914 | USH1G | c.952C>A (p.Arg318Ser) c.*551C>A (n.*551C>A) c.643C>A (p.Arg215Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.74919885G>A | CA502036638 | USH1G | c.951C>T (p.Phe317=) c.*550C>T (n.*550C>T) c.642C>T (p.Phe214=) | gnomAD v4 |
| 17 | g.74919885G>C | CA400962347 | USH1G | c.951C>G (p.Phe317Leu) c.*550C>G (n.*550C>G) c.642C>G (p.Phe214Leu) | |
| 17 | g.74919885G>T | CA400962349 | USH1G | c.951C>A (p.Phe317Leu) c.*550C>A (n.*550C>A) c.642C>A (p.Phe214Leu) | |
| 17 | g.74919886A>C | CA400962352 | USH1G | c.950T>G (p.Phe317Cys) c.*549T>G (n.*549T>G) c.641T>G (p.Phe214Cys) | |
| 17 | g.74919886A>G | CA400962354 | USH1G | c.950T>C (p.Phe317Ser) c.*549T>C (n.*549T>C) c.641T>C (p.Phe214Ser) | |
| 17 | g.74919886A>T | CA400962356 | USH1G | c.950T>A (p.Phe317Tyr) c.*549T>A (n.*549T>A) c.641T>A (p.Phe214Tyr) | |
| 17 | g.74919887A= | CA2275255318 | USH1G | c.949T= (p.Phe317=) c.*548T= (n.*548T=) c.640T= (p.Phe214=) | |
| 17 | g.74919887A>C | CA400962360 | USH1G | c.949T>G (p.Phe317Val) c.*548T>G (n.*548T>G) c.640T>G (p.Phe214Val) | |
| 17 | g.74919887A>G | CA400962362 | USH1G | c.949T>C (p.Phe317Leu) c.*548T>C (n.*548T>C) c.640T>C (p.Phe214Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.74919887A>T | CA400962365 | USH1G | c.949T>A (p.Phe317Ile) c.*548T>A (n.*548T>A) c.640T>A (p.Phe214Ile) | |
| 17 | g.74919888C>A | CA502036644 | USH1G | c.948G>T (p.Val316=) c.*547G>T (n.*547G>T) c.639G>T (p.Val213=) | gnomAD v4 |
| 17 | g.74919888C= | CA2275255319 | USH1G | c.948G= (p.Val316=) c.*547G= (n.*547G=) c.639G= (p.Val213=) | |
| 17 | g.74919888C>G | CA502036643 | USH1G | c.948G>C (p.Val316=) c.*547G>C (n.*547G>C) c.639G>C (p.Val213=) | |
| 17 | g.74919888C>T | CA8753963 | USH1G | c.948G>A (p.Val316=) c.*547G>A (n.*547G>A) c.639G>A (p.Val213=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.74919889A= | CA2275255320 | USH1G | c.947T= (p.Val316=) c.*546T= (n.*546T=) c.638T= (p.Val213=) | |
| 17 | g.74919889A>C | CA400962371 | USH1G | c.947T>G (p.Val316Gly) c.*546T>G (n.*546T>G) c.638T>G (p.Val213Gly) | |
| 17 | g.74919889A>G | CA400962373 | USH1G | c.947T>C (p.Val316Ala) c.*546T>C (n.*546T>C) c.638T>C (p.Val213Ala) | dbSNP |
| 17 | g.74919889A>T | CA8753964 | USH1G | c.947T>A (p.Val316Glu) c.*546T>A (n.*546T>A) c.638T>A (p.Val213Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.74919890C>A | CA400962382 | USH1G | c.946G>T (p.Val316Leu) c.*545G>T (n.*545G>T) c.637G>T (p.Val213Leu) | |
| 17 | g.74919890C>G | CA400962384 | USH1G | c.946G>C (p.Val316Leu) c.*545G>C (n.*545G>C) c.637G>C (p.Val213Leu) | |
| 17 | g.74919890C>T | CA400962379 | USH1G | c.946G>A (p.Val316Met) c.*545G>A (n.*545G>A) c.637G>A (p.Val213Met) | gnomAD v4 |
| 17 | g.74919891C>A | CA400962387 | USH1G | c.945G>T (p.Met315Ile) c.*544G>T (n.*544G>T) c.636G>T (p.Met212Ile) | |
| 17 | g.74919891C>G | CA400962390 | USH1G | c.945G>C (p.Met315Ile) c.*544G>C (n.*544G>C) c.636G>C (p.Met212Ile) | |
| 17 | g.74919891C>T | CA400962391 | USH1G | c.945G>A (p.Met315Ile) c.*544G>A (n.*544G>A) c.636G>A (p.Met212Ile) | gnomAD v4 |
| 17 | g.74919892A= | CA2275255321 | USH1G | c.944T= (p.Met315=) c.*543T= (n.*543T=) c.635T= (p.Met212=) | |
| 17 | g.74919892A>C | CA400962393 | USH1G | c.944T>G (p.Met315Arg) c.*543T>G (n.*543T>G) c.635T>G (p.Met212Arg) | |
| 17 | g.74919892A>G | CA400962395 | USH1G | c.944T>C (p.Met315Thr) c.*543T>C (n.*543T>C) c.635T>C (p.Met212Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.74919892A>T | CA400962397 | USH1G | c.944T>A (p.Met315Lys) c.*543T>A (n.*543T>A) c.635T>A (p.Met212Lys) | |
| 17 | g.74919893T>A | CA400962401 | USH1G | c.943A>T (p.Met315Leu) c.*542A>T (n.*542A>T) c.634A>T (p.Met212Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.74919893T>C | CA400962407 | USH1G | c.943A>G (p.Met315Val) c.*542A>G (n.*542A>G) c.634A>G (p.Met212Val) | |
| 17 | g.74919893T>G | CA400962404 | USH1G | c.943A>C (p.Met315Leu) c.*542A>C (n.*542A>C) c.634A>C (p.Met212Leu) | |
| 17 | g.74919893T= | CA2275255322 | USH1G | c.943A= (p.Met315=) c.*542A= (n.*542A=) c.634A= (p.Met212=) | |
| 17 | g.74919894G>A | CA502036652 | USH1G | c.942C>T (p.Thr314=) c.*541C>T (n.*541C>T) c.633C>T (p.Thr211=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.74919894G>C | CA502036653 | USH1G | c.942C>G (p.Thr314=) c.*541C>G (n.*541C>G) c.633C>G (p.Thr211=) | |
| 17 | g.74919894G= | CA2275255323 | USH1G | c.942C= (p.Thr314=) c.*541C= (n.*541C=) c.633C= (p.Thr211=) | |
| 17 | g.74919894G>T | CA8753965 | USH1G | c.942C>A (p.Thr314=) c.*541C>A (n.*541C>A) c.633C>A (p.Thr211=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.74919895G>A | CA400962412 | USH1G | c.941C>T (p.Thr314Ile) c.*540C>T (n.*540C>T) c.632C>T (p.Thr211Ile) | gnomAD v4 |
| 17 | g.74919895G>C | CA400962415 | USH1G | c.941C>G (p.Thr314Ser) c.*540C>G (n.*540C>G) c.632C>G (p.Thr211Ser) | |
| 17 | g.74919895G>T | CA400962417 | USH1G | c.941C>A (p.Thr314Asn) c.*540C>A (n.*540C>A) c.632C>A (p.Thr211Asn) | gnomAD v4 |
| 17 | g.74919896T>A | CA400962420 | USH1G | c.940A>T (p.Thr314Ser) c.*539A>T (n.*539A>T) c.631A>T (p.Thr211Ser) | |
| 17 | g.74919896T>C | CA400962426 | USH1G | c.940A>G (p.Thr314Ala) c.*539A>G (n.*539A>G) c.631A>G (p.Thr211Ala) | |
| 17 | g.74919896T>G | CA400962423 | USH1G | c.940A>C (p.Thr314Pro) c.*539A>C (n.*539A>C) c.631A>C (p.Thr211Pro) | dbSNP |
| 17 | g.74919896T= | CA2275255324 | USH1G | c.940A= (p.Thr314=) c.*539A= (n.*539A=) c.631A= (p.Thr211=) | |
| 17 | g.74919896_74919899delinsTGCC | CA2275255325 | USH1G | c.937_940delinsGGCA (p.Gly313=) c.*536_*539delinsGGCA (n.*536_*539delinsGGCA) c.628_631delinsGGCA (p.Gly210=) | |
| 17 | g.74919897G>A | CA502036654 | USH1G | c.939C>T (p.Gly313=) c.*538C>T (n.*538C>T) c.630C>T (p.Gly210=) | dbSNP |
| 17 | g.74919897G>C | CA502036656 | USH1G | c.939C>G (p.Gly313=) c.*538C>G (n.*538C>G) c.630C>G (p.Gly210=) | |
| 17 | g.74919897G= | CA2275255326 | USH1G | c.939C= (p.Gly313=) c.*538C= (n.*538C=) c.630C= (p.Gly210=) | |
| 17 | g.74919897G>T | CA502036657 | USH1G | c.939C>A (p.Gly313=) c.*538C>A (n.*538C>A) c.630C>A (p.Gly210=) | |
| 17 | g.74919897_74919899del | CA986277652 | USH1G | c.937_939del (p.Gly313del) c.*536_*538del (n.*536_*538del) c.628_630del (p.Gly210del) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.74919898C>A | CA400962430 | USH1G | c.938G>T (p.Gly313Val) c.*537G>T (n.*537G>T) c.629G>T (p.Gly210Val) | |
| 17 | g.74919898C>G | CA400962432 | USH1G | c.938G>C (p.Gly313Ala) c.*537G>C (n.*537G>C) c.629G>C (p.Gly210Ala) | |
| 17 | g.74919898C>T | CA400962434 | USH1G | c.938G>A (p.Gly313Asp) c.*537G>A (n.*537G>A) c.629G>A (p.Gly210Asp) | |
| 17 | g.74919899C>A | CA400962438 | USH1G | c.937G>T (p.Gly313Cys) c.*536G>T (n.*536G>T) c.628G>T (p.Gly210Cys) | |
| 17 | g.74919899C>G | CA400962440 | USH1G | c.937G>C (p.Gly313Arg) c.*536G>C (n.*536G>C) c.628G>C (p.Gly210Arg) | |
| 17 | g.74919899C>T | CA400962443 | USH1G | c.937G>A (p.Gly313Ser) c.*536G>A (n.*536G>A) c.628G>A (p.Gly210Ser) | |
| 17 | g.74919900C>A | CA502036661 | USH1G | c.936G>T (p.Leu312=) c.*535G>T (n.*535G>T) c.627G>T (p.Leu209=) | |
| 17 | g.74919900C>G | CA502036663 | USH1G | c.936G>C (p.Leu312=) c.*535G>C (n.*535G>C) c.627G>C (p.Leu209=) | |
| 17 | g.74919900C>T | CA502036664 | USH1G | c.936G>A (p.Leu312=) c.*535G>A (n.*535G>A) c.627G>A (p.Leu209=) | |
| 17 | g.74919900_74919901delinsCA | CA2275255327 | USH1G | c.935_936delinsTG (p.Leu312=) c.*534_*535delinsTG (n.*534_*535delinsTG) c.626_627delinsTG (p.Leu209=) | |
| 17 | g.74919901del | CA986277655 | USH1G | c.935del (p.Leu312ArgfsTer11) c.*534del (n.*534del) c.626del (p.Leu209ArgfsTer11) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.74919901A= | CA2275255328 | USH1G | c.935T= (p.Leu312=) c.*534T= (n.*534T=) c.626T= (p.Leu209=) | |
| 17 | g.74919901A>C | CA400962451 | USH1G | c.935T>G (p.Leu312Arg) c.*534T>G (n.*534T>G) c.626T>G (p.Leu209Arg) | |
| 17 | g.74919901A>G | CA400962447 | USH1G | c.935T>C (p.Leu312Pro) c.*534T>C (n.*534T>C) c.626T>C (p.Leu209Pro) | dbSNP |
| 17 | g.74919901A>T | CA400962448 | USH1G | c.935T>A (p.Leu312Gln) c.*534T>A (n.*534T>A) c.626T>A (p.Leu209Gln) | |
| 17 | g.74919902G>A | CA502036666 | USH1G | c.934C>T (p.Leu312=) c.*533C>T (n.*533C>T) c.625C>T (p.Leu209=) | |
| 17 | g.74919902G>C | CA400962454 | USH1G | c.934C>G (p.Leu312Val) c.*533C>G (n.*533C>G) c.625C>G (p.Leu209Val) | |
| 17 | g.74919902G>T | CA400962457 | USH1G | c.934C>A (p.Leu312Met) c.*533C>A (n.*533C>A) c.625C>A (p.Leu209Met) | COSMIC |
| 17 | g.74919902_74919916delinsGGCCGGGGCGGGTAA | CA2275255329 | USH1G | c.920_934delinsTTACCCGCCCCGGCC (p.Phe307=) c.*519_*533delinsTTACCCGCCCCGGCC (n.*519_*533delinsTTACCCGCCCCGGCC) c.611_625delinsTTACCCGCCCCGGCC (p.Phe204=) |