| 1 | g.215816993_215816996del | CA2574001824 | USH2A | c.9570+3_9570+6del (n.9570+3_9570+6del)
| |
| 1 | g.215816996_215817000del | CA2580062076 | USH2A | c.9570+1_9570+5del
| ClinVar |
| 1 | g.215816996C>A | CA344823863 | USH2A | c.9570+1G>T (n.9570+1G>T)
| ClinVar gnomAD v4 |
| 1 | g.215816996C= | CA1220434295 | USH2A | c.9570+1G= (n.9570+1G=)
| |
| 1 | g.215816996C>G | CA344823868 | USH2A | c.9570+1G>C (n.9570+1G>C)
| |
| 1 | g.215816996C>T | CA1394291 | USH2A | c.9570+1G>A (n.9570+1G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215816997C>A | CA1394292 | USH2A | c.9570G>T (p.Lys3190Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215816997C= | CA1142700058 | USH2A | c.9570G= (p.Lys3190=)
| |
| 1 | g.215816997C>G | CA344823881 | USH2A | c.9570G>C (p.Lys3190Asn)
| gnomAD v4 |
| 1 | g.215816997C>T | CA423308527 | USH2A | c.9570G>A (p.Lys3190=)
| |
| 1 | g.215816998T>A | CA344823886 | USH2A | c.9569A>T (p.Lys3190Met)
| |
| 1 | g.215816998T>C | CA344823891 | USH2A | c.9569A>G (p.Lys3190Arg)
| |
| 1 | g.215816998T>G | CA344823895 | USH2A | c.9569A>C (p.Lys3190Thr)
| |
| 1 | g.215816999T>A | CA344823908 | USH2A | c.9568A>T (p.Lys3190Ter)
| |
| 1 | g.215816999T>C | CA344823905 | USH2A | c.9568A>G (p.Lys3190Glu)
| |
| 1 | g.215816999T>G | CA344823902 | USH2A | c.9568A>C (p.Lys3190Gln)
| |
| 1 | g.215817000A>C | CA423308536 | USH2A | c.9567T>G (p.Ala3189=)
| |
| 1 | g.215817000A>G | CA423308535 | USH2A | c.9567T>C (p.Ala3189=)
| |
| 1 | g.215817000A>T | CA423308538 | USH2A | c.9567T>A (p.Ala3189=)
| |
| 1 | g.215817001G>A | CA344823912 | USH2A | c.9566C>T (p.Ala3189Val)
| |
| 1 | g.215817001G>C | CA344823913 | USH2A | c.9566C>G (p.Ala3189Gly)
| |
| 1 | g.215817001G>T | CA344823914 | USH2A | c.9566C>A (p.Ala3189Asp)
| |
| 1 | g.215817002C>A | CA1394293 | USH2A | c.9565G>T (p.Ala3189Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215817002C= | CA1220434296 | USH2A | c.9565G= (p.Ala3189=)
| |
| 1 | g.215817002C>G | CA344823915 | USH2A | c.9565G>C (p.Ala3189Pro)
| |
| 1 | g.215817002C>T | CA344823916 | USH2A | c.9565G>A (p.Ala3189Thr)
| COSMIC COSMIC |
| 1 | g.215817003T>A | CA344823920 | USH2A | c.9564A>T (p.Glu3188Asp)
| |
| 1 | g.215817003T>C | CA423308550 | USH2A | c.9564A>G (p.Glu3188=)
| COSMIC |
| 1 | g.215817003T>G | CA344823929 | USH2A | c.9564A>C (p.Glu3188Asp)
| |
| 1 | g.215817004T>A | CA344823934 | USH2A | c.9563A>T (p.Glu3188Val)
| |
| 1 | g.215817004T>C | CA344823937 | USH2A | c.9563A>G (p.Glu3188Gly)
| |
| 1 | g.215817004T>G | CA344823947 | USH2A | c.9563A>C (p.Glu3188Ala)
| |
| 1 | g.215817005C>A | CA344823950 | USH2A | c.9562G>T (p.Glu3188Ter)
| |
| 1 | g.215817005C>G | CA344823952 | USH2A | c.9562G>C (p.Glu3188Gln)
| |
| 1 | g.215817005C>T | CA344823969 | USH2A | c.9562G>A (p.Glu3188Lys)
| |
| 1 | g.215817006A>C | CA423308563 | USH2A | c.9561T>G (p.Ser3187=)
| |
| 1 | g.215817006A>G | CA423308564 | USH2A | c.9561T>C (p.Ser3187=)
| |
| 1 | g.215817006A>T | CA423308565 | USH2A | c.9561T>A (p.Ser3187=)
| |
| 1 | g.215817007G>A | CA344823978 | USH2A | c.9560C>T (p.Ser3187Phe)
| |
| 1 | g.215817007G>C | CA344823981 | USH2A | c.9560C>G (p.Ser3187Cys)
| |
| 1 | g.215817007G>T | CA344823975 | USH2A | c.9560C>A (p.Ser3187Tyr)
| |
| 1 | g.215817008A>C | CA344823989 | USH2A | c.9559T>G (p.Ser3187Ala)
| |
| 1 | g.215817008A>G | CA344823991 | USH2A | c.9559T>C (p.Ser3187Pro)
| |
| 1 | g.215817008A>T | CA344823993 | USH2A | c.9559T>A (p.Ser3187Thr)
| |
| 1 | g.215817009A= | CA1220434297 | USH2A | c.9558T= (p.Ser3186=)
| |
| 1 | g.215817009A>C | CA423308572 | USH2A | c.9558T>G (p.Ser3186=)
| |
| 1 | g.215817009A>G | CA423308574 | USH2A | c.9558T>C (p.Ser3186=)
| |
| 1 | g.215817009A>T | CA1394294 | USH2A | c.9558T>A (p.Ser3186=)
| dbSNP ExAC gnomAD v2 |
| 1 | g.215817010G>A | CA344824001 | USH2A | c.9557C>T (p.Ser3186Phe)
| dbSNP |
| 1 | g.215817010G>C | CA344824006 | USH2A | c.9557C>G (p.Ser3186Cys)
| |
| 1 | g.215817010G>T | CA344824007 | USH2A | c.9557C>A (p.Ser3186Tyr)
| |
| 1 | g.215817010_215817011delinsGA | CA1220434298 | USH2A | c.9556_9557delinsTC (p.Ser3186=)
| |
| 1 | g.215817011A>C | CA344824008 | USH2A | c.9556T>G (p.Ser3186Ala)
| |
| 1 | g.215817011A>G | CA344824009 | USH2A | c.9556T>C (p.Ser3186Pro)
| |
| 1 | g.215817011A>T | CA344824017 | USH2A | c.9556T>A (p.Ser3186Thr)
| |
| 1 | g.215817012del | CA1394295 | USH2A | c.9556del (p.Ser3186LeufsTer?)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817012A= | CA1220434299 | USH2A | c.9555T= (p.Tyr3185=)
| |
| 1 | g.215817012A>C | CA344824022 | USH2A | c.9555T>G (p.Tyr3185Ter)
| dbSNP gnomAD v4 |
| 1 | g.215817012A>G | CA423308584 | USH2A | c.9555T>C (p.Tyr3185=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215817012A>T | CA344824024 | USH2A | c.9555T>A (p.Tyr3185Ter)
| |
| 1 | g.215817013T>A | CA344824028 | USH2A | c.9554A>T (p.Tyr3185Phe)
| |
| 1 | g.215817013T>C | CA344824037 | USH2A | c.9554A>G (p.Tyr3185Cys)
| |
| 1 | g.215817013T>G | CA344824032 | USH2A | c.9554A>C (p.Tyr3185Ser)
| |
| 1 | g.215817014A>C | CA344824040 | USH2A | c.9553T>G (p.Tyr3185Asp)
| |
| 1 | g.215817014A>G | CA344824042 | USH2A | c.9553T>C (p.Tyr3185His)
| |
| 1 | g.215817014A>T | CA344824046 | USH2A | c.9553T>A (p.Tyr3185Asn)
| |
| 1 | g.215817015G>A | CA423308591 | USH2A | c.9552C>T (p.Cys3184=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215817015G>C | CA344824064 | USH2A | c.9552C>G (p.Cys3184Trp)
| |
| 1 | g.215817015G= | CA1220434300 | USH2A | c.9552C= (p.Cys3184=)
| |
| 1 | g.215817015G>T | CA344824072 | USH2A | c.9552C>A (p.Cys3184Ter)
| ClinVar |
| 1 | g.215817016C>A | CA344824073 | USH2A | c.9551G>T (p.Cys3184Phe)
| gnomAD v4 |
| 1 | g.215817016C>G | CA344824075 | USH2A | c.9551G>C (p.Cys3184Ser)
| gnomAD v4 |
| 1 | g.215817016C>T | CA344824078 | USH2A | c.9551G>A (p.Cys3184Tyr)
| |
| 1 | g.215817017A>C | CA344824081 | USH2A | c.9550T>G (p.Cys3184Gly)
| |
| 1 | g.215817017A>G | CA344824085 | USH2A | c.9550T>C (p.Cys3184Arg)
| |
| 1 | g.215817017A>T | CA344824088 | USH2A | c.9550T>A (p.Cys3184Ser)
| |
| 1 | g.215817018A= | CA1220434301 | USH2A | c.9549T= (p.Ile3183=)
| |
| 1 | g.215817018A>C | CA344824096 | USH2A | c.9549T>G (p.Ile3183Met)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817018A>G | CA423308599 | USH2A | c.9549T>C (p.Ile3183=)
| ClinVar gnomAD v4 |
| 1 | g.215817018A>T | CA423308601 | USH2A | c.9549T>A (p.Ile3183=)
| COSMIC COSMIC |
| 1 | g.215817019A>C | CA344824098 | USH2A | c.9548T>G (p.Ile3183Ser)
| |
| 1 | g.215817019A>G | CA344824097 | USH2A | c.9548T>C (p.Ile3183Thr)
| |
| 1 | g.215817019A>T | CA344824100 | USH2A | c.9548T>A (p.Ile3183Asn)
| |
| 1 | g.215817020T>A | CA344824103 | USH2A | c.9547A>T (p.Ile3183Phe)
| dbSNP |
| 1 | g.215817020T>C | CA344824105 | USH2A | c.9547A>G (p.Ile3183Val)
| |
| 1 | g.215817020T>G | CA344824104 | USH2A | c.9547A>C (p.Ile3183Leu)
| |
| 1 | g.215817020T= | CA1220434302 | USH2A | c.9547A= (p.Ile3183=)
| |
| 1 | g.215817021G>A | CA423308608 | USH2A | c.9546C>T (p.His3182=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817021G>C | CA344824117 | USH2A | c.9546C>G (p.His3182Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817021G= | CA1220434303 | USH2A | c.9546C= (p.His3182=)
| |
| 1 | g.215817021G>T | CA344824126 | USH2A | c.9546C>A (p.His3182Gln)
| |
| 1 | g.215817022T>A | CA344824132 | USH2A | c.9545A>T (p.His3182Leu)
| |
| 1 | g.215817022T>C | CA344824136 | USH2A | c.9545A>G (p.His3182Arg)
| gnomAD v4 |
| 1 | g.215817022T>G | CA344824140 | USH2A | c.9545A>C (p.His3182Pro)
| |
| 1 | g.215817023G>A | CA344824145 | USH2A | c.9544C>T (p.His3182Tyr)
| gnomAD v4 |
| 1 | g.215817023G>C | CA344824146 | USH2A | c.9544C>G (p.His3182Asp)
| |
| 1 | g.215817023G>T | CA344824147 | USH2A | c.9544C>A (p.His3182Asn)
| COSMIC COSMIC |
| 1 | g.215817024T>A | CA423308620 | USH2A | c.9543A>T (p.Gly3181=)
| ClinVar |
| 1 | g.215817024T>C | CA1394296 | USH2A | c.9543A>G (p.Gly3181=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215817024T>G | CA423308623 | USH2A | c.9543A>C (p.Gly3181=)
| |
| 1 | g.215817024T= | CA1220434304 | USH2A | c.9543A= (p.Gly3181=)
| |
| 1 | g.215817025C>A | CA344824156 | USH2A | c.9542G>T (p.Gly3181Val)
| |
| 1 | g.215817025C>G | CA344824161 | USH2A | c.9542G>C (p.Gly3181Ala)
| |
| 1 | g.215817025C>T | CA344824163 | USH2A | c.9542G>A (p.Gly3181Glu)
| COSMIC COSMIC |
| 1 | g.215817026C>A | CA344824181 | USH2A | c.9541G>T (p.Gly3181Ter)
| |
| 1 | g.215817026C>G | CA344824171 | USH2A | c.9541G>C (p.Gly3181Arg)
| |
| 1 | g.215817026C>T | CA344824168 | USH2A | c.9541G>A (p.Gly3181Arg)
| |
| 1 | g.215817027A= | CA1220434305 | USH2A | c.9540T= (p.Cys3180=)
| |
| 1 | g.215817027A>C | CA344824184 | USH2A | c.9540T>G (p.Cys3180Trp)
| |
| 1 | g.215817027A>G | CA423308628 | USH2A | c.9540T>C (p.Cys3180=)
| ClinVar dbSNP |
| 1 | g.215817027A>T | CA344824185 | USH2A | c.9540T>A (p.Cys3180Ter)
| |
| 1 | g.215817028C>A | CA344824189 | USH2A | c.9539G>T (p.Cys3180Phe)
| |
| 1 | g.215817028C= | CA1220434307 | USH2A | c.9539G= (p.Cys3180=)
| |
| 1 | g.215817028C>G | CA344824197 | USH2A | c.9539G>C (p.Cys3180Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817028C>T | CA344824202 | USH2A | c.9539G>A (p.Cys3180Tyr)
| |
| 1 | g.215817028_215817029delinsCA | CA1220434306 | USH2A | c.9538_9539delinsTG (p.Cys3180=)
| |
| 1 | g.215817029del | CA37427993 | USH2A | c.9538del (p.Cys3180ValfsTer?)
| ClinVar dbSNP |
| 1 | g.215817029A= | CA1140607188 | USH2A | c.9538T= (p.Cys3180=)
| |
| 1 | g.215817029A>C | CA344824216 | USH2A | c.9538T>G (p.Cys3180Gly)
| |
| 1 | g.215817029A>G | CA344824217 | USH2A | c.9538T>C (p.Cys3180Arg)
| |
| 1 | g.215817029A>T | CA344824218 | USH2A | c.9538T>A (p.Cys3180Ser)
| |
| 1 | g.215817030G>A | CA423308638 | USH2A | c.9537C>T (p.Ile3179=)
| |
| 1 | g.215817030G>C | CA344824227 | USH2A | c.9537C>G (p.Ile3179Met)
| COSMIC COSMIC |
| 1 | g.215817030G>T | CA423308640 | USH2A | c.9537C>A (p.Ile3179=)
| |
| 1 | g.215817031A= | CA1220434308 | USH2A | c.9536T= (p.Ile3179=)
| |
| 1 | g.215817031A>C | CA344824231 | USH2A | c.9536T>G (p.Ile3179Ser)
| dbSNP |
| 1 | g.215817031A>G | CA1394297 | USH2A | c.9536T>C (p.Ile3179Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215817031A>T | CA344824234 | USH2A | c.9536T>A (p.Ile3179Asn)
| |
| 1 | g.215817032T>A | CA344824239 | USH2A | c.9535A>T (p.Ile3179Phe)
| |
| 1 | g.215817032T>C | CA344824243 | USH2A | c.9535A>G (p.Ile3179Val)
| |
| 1 | g.215817032T>G | CA344824236 | USH2A | c.9535A>C (p.Ile3179Leu)
| |
| 1 | g.215817033A>C | CA423308650 | USH2A | c.9534T>G (p.Ser3178=)
| |
| 1 | g.215817033A>G | CA423308652 | USH2A | c.9534T>C (p.Ser3178=)
| ClinVar |
| 1 | g.215817033A>T | CA423308654 | USH2A | c.9534T>A (p.Ser3178=)
| |
| 1 | g.215817034G>A | CA344824252 | USH2A | c.9533C>T (p.Ser3178Phe)
| |
| 1 | g.215817034G>C | CA344824254 | USH2A | c.9533C>G (p.Ser3178Cys)
| |
| 1 | g.215817034G= | CA1220434309 | USH2A | c.9533C= (p.Ser3178=)
| |
| 1 | g.215817034G>T | CA37428000 | USH2A | c.9533C>A (p.Ser3178Tyr)
| dbSNP COSMIC COSMIC |
| 1 | g.215817035A>C | CA344824255 | USH2A | c.9532T>G (p.Ser3178Ala)
| |
| 1 | g.215817035A>G | CA344824261 | USH2A | c.9532T>C (p.Ser3178Pro)
| COSMIC |
| 1 | g.215817035A>T | CA344824265 | USH2A | c.9532T>A (p.Ser3178Thr)
| |
| 1 | g.215817036T>A | CA1394298 | USH2A | c.9531A>T (p.Glu3177Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817036T>C | CA423308658 | USH2A | c.9531A>G (p.Glu3177=)
| gnomAD v4 |
| 1 | g.215817036T>G | CA344824272 | USH2A | c.9531A>C (p.Glu3177Asp)
| |
| 1 | g.215817036T= | CA1146265289 | USH2A | c.9531A= (p.Glu3177=)
| |
| 1 | g.215817037T>A | CA344824276 | USH2A | c.9530A>T (p.Glu3177Val)
| |
| 1 | g.215817037T>C | CA344824283 | USH2A | c.9530A>G (p.Glu3177Gly)
| |
| 1 | g.215817037T>G | CA344824287 | USH2A | c.9530A>C (p.Glu3177Ala)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215817037T= | CA1220434310 | USH2A | c.9530A= (p.Glu3177=)
| |
| 1 | g.215817037_215817040del | CA913072774 | USH2A | c.9527_9530del (p.Pro3176HisfsTer?)
| |
| 1 | g.215817037_215817040delinsTCAG | CA1220434311 | USH2A | c.9527_9530delinsCTGA (p.Pro3176=)
| |
| 1 | g.215817038C>A | CA344824299 | USH2A | c.9529G>T (p.Glu3177Ter)
| |
| 1 | g.215817038C>G | CA344824295 | USH2A | c.9529G>C (p.Glu3177Gln)
| |
| 1 | g.215817038C>T | CA344824292 | USH2A | c.9529G>A (p.Glu3177Lys)
| |
| 1 | g.215817038_215817040del | CA658822036 | USH2A | c.9527_9529del (p.Pro3176_Glu3177delinsGln)
| ClinVar dbSNP |
| 1 | g.215817039A= | CA1220434312 | USH2A | c.9528T= (p.Pro3176=)
| |
| 1 | g.215817039A>C | CA1394299 | USH2A | c.9528T>G (p.Pro3176=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817039A>G | CA423308669 | USH2A | c.9528T>C (p.Pro3176=)
| |
| 1 | g.215817039A>T | CA423308671 | USH2A | c.9528T>A (p.Pro3176=)
| |
| 1 | g.215817040G>A | CA344824325 | USH2A | c.9527C>T (p.Pro3176Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215817040G>C | CA344824330 | USH2A | c.9527C>G (p.Pro3176Arg)
| |
| 1 | g.215817040G= | CA1220434313 | USH2A | c.9527C= (p.Pro3176=)
| |
| 1 | g.215817040G>T | CA344824335 | USH2A | c.9527C>A (p.Pro3176His)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215817041G>A | CA344824343 | USH2A | c.9526C>T (p.Pro3176Ser)
| |
| 1 | g.215817041G>C | CA344824350 | USH2A | c.9526C>G (p.Pro3176Ala)
| COSMIC COSMIC |
| 1 | g.215817041G>T | CA344824354 | USH2A | c.9526C>A (p.Pro3176Thr)
| |
| 1 | g.215817042T>A | CA344824358 | USH2A | c.9525A>T (p.Lys3175Asn)
| |
| 1 | g.215817042T>C | CA423308679 | USH2A | c.9525A>G (p.Lys3175=)
| |
| 1 | g.215817042T>G | CA344824361 | USH2A | c.9525A>C (p.Lys3175Asn)
| |
| 1 | g.215817043T>A | CA344824365 | USH2A | c.9524A>T (p.Lys3175Ile)
| |
| 1 | g.215817043T>C | CA344824369 | USH2A | c.9524A>G (p.Lys3175Arg)
| |
| 1 | g.215817043T>G | CA344824373 | USH2A | c.9524A>C (p.Lys3175Thr)
| gnomAD v4 |
| 1 | g.215817044T>A | CA344824379 | USH2A | c.9523A>T (p.Lys3175Ter)
| |
| 1 | g.215817044T>C | CA344824382 | USH2A | c.9523A>G (p.Lys3175Glu)
| |
| 1 | g.215817044T>G | CA344824377 | USH2A | c.9523A>C (p.Lys3175Gln)
| |
| 1 | g.215817045T>A | CA344824387 | USH2A | c.9522A>T (p.Gln3174His)
| |
| 1 | g.215817045T>C | CA423308687 | USH2A | c.9522A>G (p.Gln3174=)
| |
| 1 | g.215817045T>G | CA344824383 | USH2A | c.9522A>C (p.Gln3174His)
| |
| 1 | g.215817046T>A | CA344824389 | USH2A | c.9521A>T (p.Gln3174Leu)
| |
| 1 | g.215817046T>C | CA344824392 | USH2A | c.9521A>G (p.Gln3174Arg)
| |
| 1 | g.215817046T>G | CA344824397 | USH2A | c.9521A>C (p.Gln3174Pro)
| |
| 1 | g.215817047G>A | CA344824404 | USH2A | c.9520C>T (p.Gln3174Ter)
| |
| 1 | g.215817047G>C | CA344824412 | USH2A | c.9520C>G (p.Gln3174Glu)
| |
| 1 | g.215817047G>T | CA344824413 | USH2A | c.9520C>A (p.Gln3174Lys)
| gnomAD v4 |
| 1 | g.215817047_215817048delinsTT | CA2573051480 | USH2A | c.9519_9520delinsAA (p.Cys3173Ter)
| ClinVar dbSNP |
| 1 | g.215817048A= | CA1220434314 | USH2A | c.9519T= (p.Cys3173=)
| |
| 1 | g.215817048A>C | CA344824417 | USH2A | c.9519T>G (p.Cys3173Trp)
| |
| 1 | g.215817048A>G | CA423308698 | USH2A | c.9519T>C (p.Cys3173=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215817048A>T | CA344824419 | USH2A | c.9519T>A (p.Cys3173Ter)
| gnomAD v4 |
| 1 | g.215817050_215817051del | CA2580611545 | USH2A | c.9518_9519del (p.Cys3173SerfsTer4)
| ClinVar |
| 1 | g.215817049C>A | CA344824423 | USH2A | c.9518G>T (p.Cys3173Phe)
| gnomAD v4 |
| 1 | g.215817049C= | CA1220434315 | USH2A | c.9518G= (p.Cys3173=)
| |
| 1 | g.215817049C>G | CA344824427 | USH2A | c.9518G>C (p.Cys3173Ser)
| |
| 1 | g.215817049C>T | CA344824433 | USH2A | c.9518G>A (p.Cys3173Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215817050A>C | CA344824446 | USH2A | c.9517T>G (p.Cys3173Gly)
| |
| 1 | g.215817050A>G | CA344824449 | USH2A | c.9517T>C (p.Cys3173Arg)
| |
| 1 | g.215817050A>T | CA344824442 | USH2A | c.9517T>A (p.Cys3173Ser)
| |
| 1 | g.215817051C>A | CA344824454 | USH2A | c.9516G>T (p.Arg3172Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215817051C= | CA1220434316 | USH2A | c.9516G= (p.Arg3172=)
| |
| 1 | g.215817051C>G | CA344824459 | USH2A | c.9516G>C (p.Arg3172Ser)
| |
| 1 | g.215817051C>T | CA423308707 | USH2A | c.9516G>A (p.Arg3172=)
| dbSNP |
| 1 | g.215817052C>A | CA344824464 | USH2A | c.9515G>T (p.Arg3172Met)
| |
| 1 | g.215817052C= | CA1220434317 | USH2A | c.9515G= (p.Arg3172=)
| |
| 1 | g.215817052C>G | CA344824466 | USH2A | c.9515G>C (p.Arg3172Thr)
| |
| 1 | g.215817052C>T | CA344824469 | USH2A | c.9515G>A (p.Arg3172Lys)
| dbSNP |
| 1 | g.215817053T>A | CA344824478 | USH2A | c.9514A>T (p.Arg3172Trp)
| |
| 1 | g.215817053T>C | CA344824475 | USH2A | c.9514A>G (p.Arg3172Gly)
| |
| 1 | g.215817053T>G | CA423308713 | USH2A | c.9514A>C (p.Arg3172=)
| |
| 1 | g.215817054C>A | CA423308714 | USH2A | c.9513G>T (p.Val3171=)
| |
| 1 | g.215817054C>G | CA423308716 | USH2A | c.9513G>C (p.Val3171=)
| ClinVar dbSNP |
| 1 | g.215817054C>T | CA423308718 | USH2A | c.9513G>A (p.Val3171=)
| |
| 1 | g.215817055A>C | CA344824480 | USH2A | c.9512T>G (p.Val3171Gly)
| |
| 1 | g.215817055A>G | CA344824482 | USH2A | c.9512T>C (p.Val3171Ala)
| |
| 1 | g.215817055A>T | CA344824485 | USH2A | c.9512T>A (p.Val3171Glu)
| |
| 1 | g.215817056C>A | CA344824486 | USH2A | c.9511G>T (p.Val3171Leu)
| |
| 1 | g.215817056C>G | CA344824487 | USH2A | c.9511G>C (p.Val3171Leu)
| gnomAD v4 |
| 1 | g.215817056C>T | CA344824490 | USH2A | c.9511G>A (p.Val3171Met)
| gnomAD v4 |
| 1 | g.215817057T>A | CA423308726 | USH2A | c.9510A>T (p.Ala3170=)
| |
| 1 | g.215817057T>C | CA423308728 | USH2A | c.9510A>G (p.Ala3170=)
| |
| 1 | g.215817057T>G | CA423308729 | USH2A | c.9510A>C (p.Ala3170=)
| |
| 1 | g.215817058G>A | CA344824495 | USH2A | c.9509C>T (p.Ala3170Val)
| gnomAD v4 |
| 1 | g.215817058G>C | CA344824494 | USH2A | c.9509C>G (p.Ala3170Gly)
| |
| 1 | g.215817058G>T | CA344824493 | USH2A | c.9509C>A (p.Ala3170Glu)
| |
| 1 | g.215817059C>A | CA344824520 | USH2A | c.9508G>T (p.Ala3170Ser)
| |
| 1 | g.215817059C>G | CA344824524 | USH2A | c.9508G>C (p.Ala3170Pro)
| gnomAD v4 |
| 1 | g.215817059C>T | CA344824527 | USH2A | c.9508G>A (p.Ala3170Thr)
| |
| 1 | g.215817060C>A | CA344824531 | USH2A | c.9507G>T (p.Lys3169Asn)
| |
| 1 | g.215817060C>G | CA344824544 | USH2A | c.9507G>C (p.Lys3169Asn)
| |
| 1 | g.215817060C>T | CA423308738 | USH2A | c.9507G>A (p.Lys3169=)
| |
| 1 | g.215817061T>A | CA344824551 | USH2A | c.9506A>T (p.Lys3169Met)
| gnomAD v4 |
| 1 | g.215817061T>C | CA344824555 | USH2A | c.9506A>G (p.Lys3169Arg)
| |
| 1 | g.215817061T>G | CA344824557 | USH2A | c.9506A>C (p.Lys3169Thr)
| |
| 1 | g.215817062T>A | CA344824561 | USH2A | c.9505A>T (p.Lys3169Ter)
| |
| 1 | g.215817062T>C | CA344824564 | USH2A | c.9505A>G (p.Lys3169Glu)
| dbSNP |
| 1 | g.215817062T>G | CA344824567 | USH2A | c.9505A>C (p.Lys3169Gln)
| |
| 1 | g.215817062T= | CA1220434318 | USH2A | c.9505A= (p.Lys3169=)
| |
| 1 | g.215817063G>A | CA423308747 | USH2A | c.9504C>T (p.Cys3168=)
| |
| 1 | g.215817063G>C | CA344824568 | USH2A | c.9504C>G (p.Cys3168Trp)
| |
| 1 | g.215817063G>T | CA344824570 | USH2A | c.9504C>A (p.Cys3168Ter)
| ClinVar dbSNP |
| 1 | g.215817064C>A | CA1394301 | USH2A | c.9503G>T (p.Cys3168Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215817064C= | CA1148278628 | USH2A | c.9503G= (p.Cys3168=)
| |
| 1 | g.215817064C>G | CA344824575 | USH2A | c.9503G>C (p.Cys3168Ser)
| |
| 1 | g.215817064C>T | CA1394300 | USH2A | c.9503G>A (p.Cys3168Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215817065A= | CA1220434319 | USH2A | c.9502T= (p.Cys3168=)
| |
| 1 | g.215817065A>C | CA344824583 | USH2A | c.9502T>G (p.Cys3168Gly)
| |
| 1 | g.215817065A>G | CA344824586 | USH2A | c.9502T>C (p.Cys3168Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215817065A>T | CA344824588 | USH2A | c.9502T>A (p.Cys3168Ser)
| |
| 1 | g.215817066G>A | CA1394302 | USH2A | c.9501C>T (p.Leu3167=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215817066G>C | CA423308759 | USH2A | c.9501C>G (p.Leu3167=)
| |
| 1 | g.215817066G= | CA1220434320 | USH2A | c.9501C= (p.Leu3167=)
| |
| 1 | g.215817066G>T | CA423308758 | USH2A | c.9501C>A (p.Leu3167=)
| |
| 1 | g.215817067A>C | CA344824590 | USH2A | c.9500T>G (p.Leu3167Arg)
| |
| 1 | g.215817067A>G | CA344824593 | USH2A | c.9500T>C (p.Leu3167Pro)
| |
| 1 | g.215817067A>T | CA344824596 | USH2A | c.9500T>A (p.Leu3167His)
| |
| 1 | g.215817068G>A | CA344824598 | USH2A | c.9499C>T (p.Leu3167Phe)
| |
| 1 | g.215817068G>C | CA344824600 | USH2A | c.9499C>G (p.Leu3167Val)
| |
| 1 | g.215817068G>T | CA344824609 | USH2A | c.9499C>A (p.Leu3167Ile)
| |
| 1 | g.215817069C>A | CA344824612 | USH2A | c.9498G>T (p.Glu3166Asp)
| |
| 1 | g.215817069C= | CA1149125068 | USH2A | c.9498G= (p.Glu3166=)
| |
| 1 | g.215817069C>G | CA1394303 | USH2A | c.9498G>C (p.Glu3166Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215817069C>T | CA423308768 | USH2A | c.9498G>A (p.Glu3166=)
| ClinVar gnomAD v4 |
| 1 | g.215817072_215817078del | CA2586968188 | USH2A | c.9492_9498del (p.Asp3165SerfsTer5)
| |
| 1 | g.215817070T>A | CA344824629 | USH2A | c.9497A>T (p.Glu3166Val)
| |
| 1 | g.215817070T>C | CA344824627 | USH2A | c.9497A>G (p.Glu3166Gly)
| |
| 1 | g.215817070T>G | CA344824618 | USH2A | c.9497A>C (p.Glu3166Ala)
| gnomAD v4 |
| 1 | g.215817071C>A | CA344824632 | USH2A | c.9496G>T (p.Glu3166Ter)
| |
| 1 | g.215817071C>G | CA344824633 | USH2A | c.9496G>C (p.Glu3166Gln)
| |
| 1 | g.215817071C>T | CA344824634 | USH2A | c.9496G>A (p.Glu3166Lys)
| |
| 1 | g.215817072A= | CA1140613840 | USH2A | c.9495T= (p.Asp3165=)
| |
| 1 | g.215817072A>C | CA344824635 | USH2A | c.9495T>G (p.Asp3165Glu)
| gnomAD v4 COSMIC COSMIC |
| 1 | g.215817072A>G | CA143666 | USH2A | c.9495T>C (p.Asp3165=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817072A>T | CA344824641 | USH2A | c.9495T>A (p.Asp3165Glu)
| |
| 1 | g.215817072dup | CA2499214469 | USH2A | c.9495dup (p.Glu3166Ter)
| ClinVar dbSNP |
| 1 | g.215817073T>A | CA344824651 | USH2A | c.9494A>T (p.Asp3165Val)
| |
| 1 | g.215817073T>C | CA344824642 | USH2A | c.9494A>G (p.Asp3165Gly)
| |
| 1 | g.215817073T>G | CA344824649 | USH2A | c.9494A>C (p.Asp3165Ala)
| COSMIC COSMIC |
| 1 | g.215817074C>A | CA344824664 | USH2A | c.9493G>T (p.Asp3165Tyr)
| |
| 1 | g.215817074C>G | CA344824667 | USH2A | c.9493G>C (p.Asp3165His)
| |
| 1 | g.215817074C>T | CA344824669 | USH2A | c.9493G>A (p.Asp3165Asn)
| |
| 1 | g.215817075A= | CA1220434321 | USH2A | c.9492T= (p.Ser3164=)
| |
| 1 | g.215817075A>C | CA344824676 | USH2A | c.9492T>G (p.Ser3164Arg)
| |
| 1 | g.215817075A>G | CA423308784 | USH2A | c.9492T>C (p.Ser3164=)
| |
| 1 | g.215817075A>T | CA344824678 | USH2A | c.9492T>A (p.Ser3164Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215817076C>A | CA344824692 | USH2A | c.9491G>T (p.Ser3164Ile)
| |
| 1 | g.215817076C>G | CA344824681 | USH2A | c.9491G>C (p.Ser3164Thr)
| |
| 1 | g.215817076C>T | CA344824684 | USH2A | c.9491G>A (p.Ser3164Asn)
| |
| 1 | g.215817077T>A | CA344824695 | USH2A | c.9490A>T (p.Ser3164Cys)
| |
| 1 | g.215817077T>C | CA344824698 | USH2A | c.9490A>G (p.Ser3164Gly)
| |
| 1 | g.215817077T>G | CA344824699 | USH2A | c.9490A>C (p.Ser3164Arg)
| |
| 1 | g.215817078C>A | CA344824700 | USH2A | c.9489G>T (p.Gln3163His)
| |
| 1 | g.215817078C>G | CA344824701 | USH2A | c.9489G>C (p.Gln3163His)
| dbSNP gnomAD v4 |
| 1 | g.215817078C>T | CA423308791 | USH2A | c.9489G>A (p.Gln3163=)
| gnomAD v4 |
| 1 | g.215817079del | CA2573131594 | USH2A | c.9488del (p.Gln3163ArgfsTer9)
| ClinVar dbSNP |
| 1 | g.215817079T>A | CA344824703 | USH2A | c.9488A>T (p.Gln3163Leu)
| |
| 1 | g.215817079T>C | CA344824706 | USH2A | c.9488A>G (p.Gln3163Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215817079T>G | CA344824711 | USH2A | c.9488A>C (p.Gln3163Pro)
| |
| 1 | g.215817079T= | CA1220434322 | USH2A | c.9488A= (p.Gln3163=)
| |
| 1 | g.215817080G>A | CA37428054 | USH2A | c.9487C>T (p.Gln3163Ter)
| ClinVar dbSNP |
| 1 | g.215817080G>C | CA344824720 | USH2A | c.9487C>G (p.Gln3163Glu)
| |
| 1 | g.215817080G= | CA1143036860 | USH2A | c.9487C= (p.Gln3163=)
| |
| 1 | g.215817080G>T | CA37428058 | USH2A | c.9487C>A (p.Gln3163Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817081A>C | CA344824738 | USH2A | c.9486T>G (p.Asp3162Glu)
| |
| 1 | g.215817081A>G | CA423308798 | USH2A | c.9486T>C (p.Asp3162=)
| gnomAD v4 |
| 1 | g.215817081A>T | CA344824741 | USH2A | c.9486T>A (p.Asp3162Glu)
| |
| 1 | g.215817082T>A | CA344824759 | USH2A | c.9485A>T (p.Asp3162Val)
| |
| 1 | g.215817082T>C | CA344824746 | USH2A | c.9485A>G (p.Asp3162Gly)
| |
| 1 | g.215817082T>G | CA344824752 | USH2A | c.9485A>C (p.Asp3162Ala)
| |
| 1 | g.215817083C>A | CA344824763 | USH2A | c.9484G>T (p.Asp3162Tyr)
| |
| 1 | g.215817083C= | CA1220434323 | USH2A | c.9484G= (p.Asp3162=)
| |
| 1 | g.215817083C>G | CA344824767 | USH2A | c.9484G>C (p.Asp3162His)
| |
| 1 | g.215817083C>T | CA37428059 | USH2A | c.9484G>A (p.Asp3162Asn)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215817084C>A | CA344824771 | USH2A | c.9483G>T (p.Gln3161His)
| |
| 1 | g.215817084C>G | CA344824774 | USH2A | c.9483G>C (p.Gln3161His)
| |
| 1 | g.215817084C>T | CA423308808 | USH2A | c.9483G>A (p.Gln3161=)
| ClinVar gnomAD v4 |
| 1 | g.215817085T>A | CA344824793 | USH2A | c.9482A>T (p.Gln3161Leu)
| |
| 1 | g.215817085T>C | CA344824780 | USH2A | c.9482A>G (p.Gln3161Arg)
| |
| 1 | g.215817085T>G | CA344824777 | USH2A | c.9482A>C (p.Gln3161Pro)
| gnomAD v4 |
| 1 | g.215817086G>A | CA344824797 | USH2A | c.9481C>T (p.Gln3161Ter)
| |
| 1 | g.215817086G>C | CA344824798 | USH2A | c.9481C>G (p.Gln3161Glu)
| |
| 1 | g.215817086G>T | CA344824799 | USH2A | c.9481C>A (p.Gln3161Lys)
| |
| 1 | g.215817087C>A | CA423308819 | USH2A | c.9480G>T (p.Val3160=)
| |
| 1 | g.215817087C>G | CA423308821 | USH2A | c.9480G>C (p.Val3160=)
| |
| 1 | g.215817087C>T | CA423308823 | USH2A | c.9480G>A (p.Val3160=)
| gnomAD v4 |
| 1 | g.215817088A= | CA1220434324 | USH2A | c.9479T= (p.Val3160=)
| |
| 1 | g.215817088A>C | CA344824800 | USH2A | c.9479T>G (p.Val3160Gly)
| |
| 1 | g.215817088A>G | CA344824803 | USH2A | c.9479T>C (p.Val3160Ala)
| |
| 1 | g.215817088A>T | CA1394304 | USH2A | c.9479T>A (p.Val3160Glu)
| dbSNP ExAC gnomAD v2 |
| 1 | g.215817089C>A | CA344824815 | USH2A | c.9478G>T (p.Val3160Leu)
| |
| 1 | g.215817089C= | CA1220434325 | USH2A | c.9478G= (p.Val3160=)
| |
| 1 | g.215817089C>G | CA344824812 | USH2A | c.9478G>C (p.Val3160Leu)
| |
| 1 | g.215817089C>T | CA344824814 | USH2A | c.9478G>A (p.Val3160Met)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817090T>A | CA344824816 | USH2A | c.9477A>T (p.Leu3159Phe)
| |
| 1 | g.215817090T>C | CA423308830 | USH2A | c.9477A>G (p.Leu3159=)
| |
| 1 | g.215817090T>G | CA344824818 | USH2A | c.9477A>C (p.Leu3159Phe)
| |
| 1 | g.215817091A>C | CA344824820 | USH2A | c.9476T>G (p.Leu3159Ter)
| |
| 1 | g.215817091A>G | CA344824821 | USH2A | c.9476T>C (p.Leu3159Ser)
| |
| 1 | g.215817091A>T | CA344824824 | USH2A | c.9476T>A (p.Leu3159Ter)
| |
| 1 | g.215817092A>C | CA344824826 | USH2A | c.9475T>G (p.Leu3159Val)
| gnomAD v4 |
| 1 | g.215817092A>G | CA423308839 | USH2A | c.9475T>C (p.Leu3159=)
| |
| 1 | g.215817092A>T | CA344824827 | USH2A | c.9475T>A (p.Leu3159Ile)
| |
| 1 | g.215817093C>A | CA344824833 | USH2A | c.9474G>T (p.Lys3158Asn)
| |
| 1 | g.215817093C= | CA1220434326 | USH2A | c.9474G= (p.Lys3158=)
| |
| 1 | g.215817093C>G | CA344824835 | USH2A | c.9474G>C (p.Lys3158Asn)
| dbSNP gnomAD v4 |
| 1 | g.215817093C>T | CA423308853 | USH2A | c.9474G>A (p.Lys3158=)
| |
| 1 | g.215817094T>A | CA344824840 | USH2A | c.9473A>T (p.Lys3158Met)
| |
| 1 | g.215817094T>C | CA1394305 | USH2A | c.9473A>G (p.Lys3158Arg)
| dbSNP ExAC gnomAD v2 |
| 1 | g.215817094T>G | CA344824845 | USH2A | c.9473A>C (p.Lys3158Thr)
| |
| 1 | g.215817094T= | CA1220434327 | USH2A | c.9473A= (p.Lys3158=)
| |
| 1 | g.215817097del | CA2499214470 | USH2A | c.9473del (p.Lys3158SerfsTer2)
| ClinVar dbSNP |
| 1 | g.215817095T>A | CA344824850 | USH2A | c.9472A>T (p.Lys3158Ter)
| |
| 1 | g.215817095T>C | CA344824855 | USH2A | c.9472A>G (p.Lys3158Glu)
| |
| 1 | g.215817095T>G | CA344824852 | USH2A | c.9472A>C (p.Lys3158Gln)
| |
| 1 | g.215817096T>A | CA344824857 | USH2A | c.9471A>T (p.Gln3157His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817096T>C | CA423308862 | USH2A | c.9471A>G (p.Gln3157=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215817096T>G | CA344824859 | USH2A | c.9471A>C (p.Gln3157His)
| |
| 1 | g.215817096T= | CA1220434328 | USH2A | c.9471A= (p.Gln3157=)
| |
