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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.215728092_215728199delinsAGACCACACGGTAATGGGAGATAATGCCATTGGGAGATTCTGGCTTTGTCCAATTCAACAGAACTGAATGAGCACTCGTGGCTTGAGCCCAAGGAGCTGGAAAATCTT | CA1220396495 | USH2A | c.11897_12004delinsAAGATTTTCCAGCTCCTTGGGCTCAAGCCACGAGTGCTCATTCAGTTCTGTTGAATTGGACAAAGCCAGAATCTCCCAATGGCATTATCTCCCATTACCGTGTGGTCT (p.Gln3966=) | |
| 1 | g.215728095_215728201del | CA1139656579 | USH2A | c.11897_12003del (p.Gln3966LeufsTer11) | ClinVar dbSNP |
| 1 | g.215728110A>C | CA344827151 | USH2A | c.11986T>G (p.Ser3996Ala) | |
| 1 | g.215728110A>G | CA344827153 | USH2A | c.11986T>C (p.Ser3996Pro) | |
| 1 | g.215728110A>T | CA344827156 | USH2A | c.11986T>A (p.Ser3996Thr) | |
| 1 | g.215728111G>A | CA423314403 | USH2A | c.11985C>T (p.Ile3995=) | ClinVar |
| 1 | g.215728111G>C | CA344827158 | USH2A | c.11985C>G (p.Ile3995Met) | |
| 1 | g.215728111G>T | CA423314404 | USH2A | c.11985C>A (p.Ile3995=) | |
| 1 | g.215728112A>C | CA344827160 | USH2A | c.11984T>G (p.Ile3995Ser) | |
| 1 | g.215728112A>G | CA344827162 | USH2A | c.11984T>C (p.Ile3995Thr) | |
| 1 | g.215728112A>T | CA344827161 | USH2A | c.11984T>A (p.Ile3995Asn) | |
| 1 | g.215728113T>A | CA344827165 | USH2A | c.11983A>T (p.Ile3995Phe) | |
| 1 | g.215728113T>C | CA344827166 | USH2A | c.11983A>G (p.Ile3995Val) | gnomAD v4 |
| 1 | g.215728113T>G | CA344827169 | USH2A | c.11983A>C (p.Ile3995Leu) | |
| 1 | g.215728114A>C | CA344827171 | USH2A | c.11982T>G (p.Ile3994Met) | |
| 1 | g.215728114A>G | CA423314406 | USH2A | c.11982T>C (p.Ile3994=) | gnomAD v4 |
| 1 | g.215728114A>T | CA423314407 | USH2A | c.11982T>A (p.Ile3994=) | |
| 1 | g.215728115A>C | CA344827175 | USH2A | c.11981T>G (p.Ile3994Ser) | |
| 1 | g.215728115A>G | CA344827179 | USH2A | c.11981T>C (p.Ile3994Thr) | |
| 1 | g.215728115A>T | CA344827177 | USH2A | c.11981T>A (p.Ile3994Asn) | |
| 1 | g.215728116T>A | CA344827180 | USH2A | c.11980A>T (p.Ile3994Phe) | |
| 1 | g.215728116T>C | CA344827183 | USH2A | c.11980A>G (p.Ile3994Val) | |
| 1 | g.215728116T>G | CA344827187 | USH2A | c.11980A>C (p.Ile3994Leu) | |
| 1 | g.215728117G>A | CA423314408 | USH2A | c.11979C>T (p.Gly3993=) | dbSNP gnomAD v4 |
| 1 | g.215728117G>C | CA423314409 | USH2A | c.11979C>G (p.Gly3993=) | |
| 1 | g.215728117G= | CA1220396500 | USH2A | c.11979C= (p.Gly3993=) | |
| 1 | g.215728117G>T | CA423314410 | USH2A | c.11979C>A (p.Gly3993=) | |
| 1 | g.215728117_215728118delinsAA | CA2580062167 | USH2A | c.11978_11979delinsTT (p.Gly3993Val) | ClinVar |
| 1 | g.215728118C>A | CA344827188 | USH2A | c.11978G>T (p.Gly3993Val) | dbSNP gnomAD v2 COSMIC COSMIC |
| 1 | g.215728118C= | CA1142239339 | USH2A | c.11978G= (p.Gly3993=) | |
| 1 | g.215728118C>G | CA344827190 | USH2A | c.11978G>C (p.Gly3993Ala) | |
| 1 | g.215728118C>T | CA1393589 | USH2A | c.11978G>A (p.Gly3993Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728119C>A | CA344827193 | USH2A | c.11977G>T (p.Gly3993Cys) | |
| 1 | g.215728119C>G | CA344827195 | USH2A | c.11977G>C (p.Gly3993Arg) | |
| 1 | g.215728119C>T | CA344827197 | USH2A | c.11977G>A (p.Gly3993Ser) | |
| 1 | g.215728120A= | CA1220396501 | USH2A | c.11976T= (p.Asn3992=) | |
| 1 | g.215728120A>C | CA344827199 | USH2A | c.11976T>G (p.Asn3992Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215728120A>G | CA423314412 | USH2A | c.11976T>C (p.Asn3992=) | ClinVar dbSNP |
| 1 | g.215728120A>T | CA344827206 | USH2A | c.11976T>A (p.Asn3992Lys) | |
| 1 | g.215728121T>A | CA344827209 | USH2A | c.11975A>T (p.Asn3992Ile) | |
| 1 | g.215728121T>C | CA37395234 | USH2A | c.11975A>G (p.Asn3992Ser) | dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.215728121T>G | CA344827208 | USH2A | c.11975A>C (p.Asn3992Thr) | |
| 1 | g.215728121T= | CA1220396502 | USH2A | c.11975A= (p.Asn3992=) | |
| 1 | g.215728122T>A | CA344827213 | USH2A | c.11974A>T (p.Asn3992Tyr) | |
| 1 | g.215728122T>C | CA344827211 | USH2A | c.11974A>G (p.Asn3992Asp) | |
| 1 | g.215728122T>G | CA344827215 | USH2A | c.11974A>C (p.Asn3992His) | |
| 1 | g.215728123G>A | CA423314414 | USH2A | c.11973C>T (p.Pro3991=) | |
| 1 | g.215728123G>C | CA423314413 | USH2A | c.11973C>G (p.Pro3991=) | |
| 1 | g.215728123G= | CA1220396503 | USH2A | c.11973C= (p.Pro3991=) | |
| 1 | g.215728123G>T | CA1393590 | USH2A | c.11973C>A (p.Pro3991=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728124G>A | CA344827221 | USH2A | c.11972C>T (p.Pro3991Leu) | |
| 1 | g.215728124G>C | CA344827219 | USH2A | c.11972C>G (p.Pro3991Arg) | |
| 1 | g.215728124G>T | CA344827222 | USH2A | c.11972C>A (p.Pro3991His) | COSMIC |
| 1 | g.215728125G>A | CA344827224 | USH2A | c.11971C>T (p.Pro3991Ser) | COSMIC COSMIC |
| 1 | g.215728125G>C | CA344827226 | USH2A | c.11971C>G (p.Pro3991Ala) | |
| 1 | g.215728125G>T | CA344827225 | USH2A | c.11971C>A (p.Pro3991Thr) | |
| 1 | g.215728126A>C | CA423314415 | USH2A | c.11970T>G (p.Ser3990=) | |
| 1 | g.215728126A>G | CA423314416 | USH2A | c.11970T>C (p.Ser3990=) | |
| 1 | g.215728126A>T | CA423314417 | USH2A | c.11970T>A (p.Ser3990=) | |
| 1 | g.215728127G>A | CA1393591 | USH2A | c.11969C>T (p.Ser3990Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728127G>C | CA344827241 | USH2A | c.11969C>G (p.Ser3990Cys) | |
| 1 | g.215728127G= | CA1220396504 | USH2A | c.11969C= (p.Ser3990=) | |
| 1 | g.215728127G>T | CA344827236 | USH2A | c.11969C>A (p.Ser3990Tyr) | |
| 1 | g.215728128A= | CA1220396505 | USH2A | c.11968T= (p.Ser3990=) | |
| 1 | g.215728128A>C | CA344827243 | USH2A | c.11968T>G (p.Ser3990Ala) | |
| 1 | g.215728128A>G | CA344827248 | USH2A | c.11968T>C (p.Ser3990Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728128A>T | CA344827250 | USH2A | c.11968T>A (p.Ser3990Thr) | |
| 1 | g.215728129T>A | CA344827996 | USH2A | c.11967A>T (p.Glu3989Asp) | |
| 1 | g.215728129T>C | CA423430002 | USH2A | c.11967A>G (p.Glu3989=) | |
| 1 | g.215728129T>G | CA344828001 | USH2A | c.11967A>C (p.Glu3989Asp) | |
| 1 | g.215728130T>A | CA344828005 | USH2A | c.11966A>T (p.Glu3989Val) | |
| 1 | g.215728130T>C | CA344828007 | USH2A | c.11966A>G (p.Glu3989Gly) | |
| 1 | g.215728130T>G | CA344828011 | USH2A | c.11966A>C (p.Glu3989Ala) | |
| 1 | g.215728131C>A | CA344828018 | USH2A | c.11965G>T (p.Glu3989Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215728131C>G | CA344828021 | USH2A | c.11965G>C (p.Glu3989Gln) | gnomAD v4 |
| 1 | g.215728131C>T | CA344828026 | USH2A | c.11965G>A (p.Glu3989Lys) | COSMIC |
| 1 | g.215728132T>A | CA423430003 | USH2A | c.11964A>T (p.Pro3988=) | |
| 1 | g.215728132T>C | CA423430004 | USH2A | c.11964A>G (p.Pro3988=) | |
| 1 | g.215728132T>G | CA423430005 | USH2A | c.11964A>C (p.Pro3988=) | |
| 1 | g.215728133G>A | CA344828027 | USH2A | c.11963C>T (p.Pro3988Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728133G>C | CA344828033 | USH2A | c.11963C>G (p.Pro3988Arg) | |
| 1 | g.215728133G= | CA1220396506 | USH2A | c.11963C= (p.Pro3988=) | |
| 1 | g.215728133G>T | CA344828031 | USH2A | c.11963C>A (p.Pro3988Gln) | |
| 1 | g.215728134G>A | CA344828034 | USH2A | c.11962C>T (p.Pro3988Ser) | gnomAD v4 |
| 1 | g.215728134G>C | CA344828038 | USH2A | c.11962C>G (p.Pro3988Ala) | |
| 1 | g.215728134G>T | CA344828041 | USH2A | c.11962C>A (p.Pro3988Thr) | |
| 1 | g.215728135C>A | CA344828044 | USH2A | c.11961G>T (p.Lys3987Asn) | |
| 1 | g.215728135C= | CA1220396507 | USH2A | c.11961G= (p.Lys3987=) | |
| 1 | g.215728135C>G | CA344828047 | USH2A | c.11961G>C (p.Lys3987Asn) | |
| 1 | g.215728135C>T | CA1393592 | USH2A | c.11961G>A (p.Lys3987=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728136T>A | CA344828054 | USH2A | c.11960A>T (p.Lys3987Met) | ClinVar dbSNP |
| 1 | g.215728136T>C | CA344828059 | USH2A | c.11960A>G (p.Lys3987Arg) | |
| 1 | g.215728136T>G | CA344828062 | USH2A | c.11960A>C (p.Lys3987Thr) | |
| 1 | g.215728137T>A | CA344828070 | USH2A | c.11959A>T (p.Lys3987Ter) | |
| 1 | g.215728137T>C | CA344828077 | USH2A | c.11959A>G (p.Lys3987Glu) | |
| 1 | g.215728137T>G | CA344828066 | USH2A | c.11959A>C (p.Lys3987Gln) | |
| 1 | g.215728138T>A | CA1393593 | USH2A | c.11958A>T (p.Thr3986=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728138T>C | CA423430006 | USH2A | c.11958A>G (p.Thr3986=) | |
| 1 | g.215728138T>G | CA423430007 | USH2A | c.11958A>C (p.Thr3986=) | |
| 1 | g.215728138T= | CA1220396508 | USH2A | c.11958A= (p.Thr3986=) | |
| 1 | g.215728139G>A | CA1393594 | USH2A | c.11957C>T (p.Thr3986Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728139G>C | CA344828099 | USH2A | c.11957C>G (p.Thr3986Arg) | |
| 1 | g.215728139G= | CA1220396509 | USH2A | c.11957C= (p.Thr3986=) | |
| 1 | g.215728139G>T | CA344828104 | USH2A | c.11957C>A (p.Thr3986Lys) | |
| 1 | g.215728140T>A | CA344828114 | USH2A | c.11956A>T (p.Thr3986Ser) | |
| 1 | g.215728140T>C | CA185733 | USH2A | c.11956A>G (p.Thr3986Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215728140T>G | CA344828107 | USH2A | c.11956A>C (p.Thr3986Pro) | |
| 1 | g.215728140T= | CA1148224967 | USH2A | c.11956A= (p.Thr3986=) | |
| 1 | g.215728141C>A | CA344828119 | USH2A | c.11955G>T (p.Trp3985Cys) | |
| 1 | g.215728141C= | CA1220396510 | USH2A | c.11955G= (p.Trp3985=) | |
| 1 | g.215728141C>G | CA344828122 | USH2A | c.11955G>C (p.Trp3985Cys) | |
| 1 | g.215728141C>T | CA37395261 | USH2A | c.11955G>A (p.Trp3985Ter) | ClinVar dbSNP |
| 1 | g.215728142C>A | CA344828127 | USH2A | c.11954G>T (p.Trp3985Leu) | |
| 1 | g.215728142C= | CA1144229156 | USH2A | c.11954G= (p.Trp3985=) | |
| 1 | g.215728142C>G | CA344828133 | USH2A | c.11954G>C (p.Trp3985Ser) | |
| 1 | g.215728142C>T | CA262070 | USH2A | c.11954G>A (p.Trp3985Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215728143A>C | CA344828136 | USH2A | c.11953T>G (p.Trp3985Gly) | |
| 1 | g.215728143A>G | CA344828138 | USH2A | c.11953T>C (p.Trp3985Arg) | |
| 1 | g.215728143A>T | CA344828137 | USH2A | c.11953T>A (p.Trp3985Arg) | |
| 1 | g.215728144A= | CA1142084459 | USH2A | c.11952T= (p.Asn3984=) | |
| 1 | g.215728144A>C | CA344828139 | USH2A | c.11952T>G (p.Asn3984Lys) | |
| 1 | g.215728144A>G | CA1393595 | USH2A | c.11952T>C (p.Asn3984=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728144A>T | CA344828142 | USH2A | c.11952T>A (p.Asn3984Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215728145T>A | CA344828147 | USH2A | c.11951A>T (p.Asn3984Ile) | |
| 1 | g.215728145T>C | CA344828150 | USH2A | c.11951A>G (p.Asn3984Ser) | |
| 1 | g.215728145T>G | CA344828154 | USH2A | c.11951A>C (p.Asn3984Thr) | |
| 1 | g.215728146T>A | CA344828165 | USH2A | c.11950A>T (p.Asn3984Tyr) | |
| 1 | g.215728146T>C | CA344828169 | USH2A | c.11950A>G (p.Asn3984Asp) | |
| 1 | g.215728146T>G | CA344828172 | USH2A | c.11950A>C (p.Asn3984His) | |
| 1 | g.215728147C>A | CA344828175 | USH2A | c.11949G>T (p.Leu3983Phe) | |
| 1 | g.215728147C>G | CA344828177 | USH2A | c.11949G>C (p.Leu3983Phe) | gnomAD v4 |
| 1 | g.215728147C>T | CA423430008 | USH2A | c.11949G>A (p.Leu3983=) | |
| 1 | g.215728148A>C | CA344828189 | USH2A | c.11948T>G (p.Leu3983Trp) | |
| 1 | g.215728148A>G | CA344828187 | USH2A | c.11948T>C (p.Leu3983Ser) | |
| 1 | g.215728148A>T | CA344828181 | USH2A | c.11948T>A (p.Leu3983Ter) | |
| 1 | g.215728149A>C | CA344828192 | USH2A | c.11947T>G (p.Leu3983Val) | |
| 1 | g.215728149A>G | CA423430009 | USH2A | c.11947T>C (p.Leu3983=) | ClinVar gnomAD v4 |
| 1 | g.215728149A>T | CA344828194 | USH2A | c.11947T>A (p.Leu3983Met) | |
| 1 | g.215728150C>A | CA423430010 | USH2A | c.11946G>T (p.Leu3982=) | dbSNP |
| 1 | g.215728150C= | CA1139967627 | USH2A | c.11946G= (p.Leu3982=) | |
| 1 | g.215728150C>G | CA423430011 | USH2A | c.11946G>C (p.Leu3982=) | dbSNP |
| 1 | g.215728150C>T | CA143279 | USH2A | c.11946G>A (p.Leu3982=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728151A>C | CA344828201 | USH2A | c.11945T>G (p.Leu3982Arg) | |
| 1 | g.215728151A>G | CA344828203 | USH2A | c.11945T>C (p.Leu3982Pro) | |
| 1 | g.215728151A>T | CA344828205 | USH2A | c.11945T>A (p.Leu3982Gln) | |
| 1 | g.215728152G>A | CA423430012 | USH2A | c.11944C>T (p.Leu3982=) | |
| 1 | g.215728152G>C | CA344828209 | USH2A | c.11944C>G (p.Leu3982Val) | |
| 1 | g.215728152G>T | CA344828213 | USH2A | c.11944C>A (p.Leu3982Met) | |
| 1 | g.215728153A= | CA1220396511 | USH2A | c.11943T= (p.Val3981=) | |
| 1 | g.215728153A>C | CA423430013 | USH2A | c.11943T>G (p.Val3981=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728153A>G | CA423430014 | USH2A | c.11943T>C (p.Val3981=) | |
| 1 | g.215728153A>T | CA423430015 | USH2A | c.11943T>A (p.Val3981=) | |
| 1 | g.215728154A>C | CA344828217 | USH2A | c.11942T>G (p.Val3981Gly) | |
| 1 | g.215728154A>G | CA344828220 | USH2A | c.11942T>C (p.Val3981Ala) | gnomAD v4 |
| 1 | g.215728154A>T | CA344828222 | USH2A | c.11942T>A (p.Val3981Asp) | |
| 1 | g.215728155C>A | CA344828227 | USH2A | c.11941G>T (p.Val3981Phe) | |
| 1 | g.215728155C= | CA1220396512 | USH2A | c.11941G= (p.Val3981=) | |
| 1 | g.215728155C>G | CA344828229 | USH2A | c.11941G>C (p.Val3981Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728155C>T | CA344828232 | USH2A | c.11941G>A (p.Val3981Ile) | |
| 1 | g.215728156T>A | CA423430016 | USH2A | c.11940A>T (p.Ser3980=) | |
| 1 | g.215728156T>C | CA423430017 | USH2A | c.11940A>G (p.Ser3980=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728156T>G | CA423430018 | USH2A | c.11940A>C (p.Ser3980=) | |
| 1 | g.215728156T= | CA1220396513 | USH2A | c.11940A= (p.Ser3980=) | |
| 1 | g.215728157G>A | CA344828236 | USH2A | c.11939C>T (p.Ser3980Leu) | |
| 1 | g.215728157G>C | CA1393596 | USH2A | c.11939C>G (p.Ser3980Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728157G= | CA1220396514 | USH2A | c.11939C= (p.Ser3980=) | |
| 1 | g.215728157G>T | CA344828235 | USH2A | c.11939C>A (p.Ser3980Ter) | |
| 1 | g.215728158A>C | CA344828237 | USH2A | c.11938T>G (p.Ser3980Ala) | |
| 1 | g.215728158A>G | CA344828238 | USH2A | c.11938T>C (p.Ser3980Pro) | |
| 1 | g.215728158A>T | CA344828241 | USH2A | c.11938T>A (p.Ser3980Thr) | |
| 1 | g.215728159A>C | CA344828243 | USH2A | c.11937T>G (p.His3979Gln) | |
| 1 | g.215728159A>G | CA423430019 | USH2A | c.11937T>C (p.His3979=) | |
| 1 | g.215728159A>T | CA344828251 | USH2A | c.11937T>A (p.His3979Gln) | |
| 1 | g.215728160T>A | CA344828254 | USH2A | c.11936A>T (p.His3979Leu) | |
| 1 | g.215728160T>C | CA344828257 | USH2A | c.11936A>G (p.His3979Arg) | ClinVar |
| 1 | g.215728160T>G | CA344828261 | USH2A | c.11936A>C (p.His3979Pro) | |
| 1 | g.215728161G>A | CA344828269 | USH2A | c.11935C>T (p.His3979Tyr) | dbSNP gnomAD v4 COSMIC |
| 1 | g.215728161G>C | CA344828270 | USH2A | c.11935C>G (p.His3979Asp) | |
| 1 | g.215728161G= | CA1220396515 | USH2A | c.11935C= (p.His3979=) | |
| 1 | g.215728161G>T | CA344828273 | USH2A | c.11935C>A (p.His3979Asn) | |
| 1 | g.215728162A>C | CA423430020 | USH2A | c.11934T>G (p.Ala3978=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215728162A>G | CA423430021 | USH2A | c.11934T>C (p.Ala3978=) | |
| 1 | g.215728162A>T | CA423430022 | USH2A | c.11934T>A (p.Ala3978=) | |
| 1 | g.215728163G>A | CA344828295 | USH2A | c.11933C>T (p.Ala3978Val) | gnomAD v4 |
| 1 | g.215728163G>C | CA344828291 | USH2A | c.11933C>G (p.Ala3978Gly) | |
| 1 | g.215728163G>T | CA344828284 | USH2A | c.11933C>A (p.Ala3978Asp) | |
| 1 | g.215728164C>A | CA344828299 | USH2A | c.11932G>T (p.Ala3978Ser) | dbSNP |
| 1 | g.215728164C= | CA1220396516 | USH2A | c.11932G= (p.Ala3978=) | |
| 1 | g.215728164C>G | CA344828300 | USH2A | c.11932G>C (p.Ala3978Pro) | |
| 1 | g.215728164C>T | CA344828305 | USH2A | c.11932G>A (p.Ala3978Thr) | |
| 1 | g.215728165A>C | CA344828309 | USH2A | c.11931T>G (p.Ser3977Arg) | |
| 1 | g.215728165A>G | CA423430023 | USH2A | c.11931T>C (p.Ser3977=) | ClinVar gnomAD v4 |
| 1 | g.215728165A>T | CA344828312 | USH2A | c.11931T>A (p.Ser3977Arg) | |
| 1 | g.215728166C>A | CA344828332 | USH2A | c.11930G>T (p.Ser3977Ile) | dbSNP |
| 1 | g.215728166C= | CA1220396517 | USH2A | c.11930G= (p.Ser3977=) | |
| 1 | g.215728166C>G | CA344828333 | USH2A | c.11930G>C (p.Ser3977Thr) | |
| 1 | g.215728166C>T | CA344828335 | USH2A | c.11930G>A (p.Ser3977Asn) | |
| 1 | g.215728167T>A | CA344828337 | USH2A | c.11929A>T (p.Ser3977Cys) | |
| 1 | g.215728167T>C | CA344828338 | USH2A | c.11929A>G (p.Ser3977Gly) | |
| 1 | g.215728167T>G | CA344828339 | USH2A | c.11929A>C (p.Ser3977Arg) | |
| 1 | g.215728168C>A | CA423430024 | USH2A | c.11928G>T (p.Thr3976=) | ClinVar |
| 1 | g.215728168C= | CA1140628633 | USH2A | c.11928G= (p.Thr3976=) | |
| 1 | g.215728168C>G | CA423430025 | USH2A | c.11928G>C (p.Thr3976=) | |
| 1 | g.215728168C>T | CA143277 | USH2A | c.11928G>A (p.Thr3976=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728169G>A | CA143275 | USH2A | c.11927C>T (p.Thr3976Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215728169G>C | CA344828342 | USH2A | c.11927C>G (p.Thr3976Arg) | |
| 1 | g.215728169G= | CA1141863988 | USH2A | c.11927C= (p.Thr3976=) | |
| 1 | g.215728169G>T | CA344828346 | USH2A | c.11927C>A (p.Thr3976Lys) | |
| 1 | g.215728170T>A | CA344828354 | USH2A | c.11926A>T (p.Thr3976Ser) | |
| 1 | g.215728170T>C | CA344828355 | USH2A | c.11926A>G (p.Thr3976Ala) | gnomAD v4 COSMIC COSMIC |
| 1 | g.215728170T>G | CA344828359 | USH2A | c.11926A>C (p.Thr3976Pro) | |
| 1 | g.215728171G>A | CA423430026 | USH2A | c.11925C>T (p.Ala3975=) | |
| 1 | g.215728171G>C | CA423430028 | USH2A | c.11925C>G (p.Ala3975=) | |
| 1 | g.215728171G>T | CA423430027 | USH2A | c.11925C>A (p.Ala3975=) | |
| 1 | g.215728172G>A | CA344828364 | USH2A | c.11924C>T (p.Ala3975Val) | |
| 1 | g.215728172G>C | CA344828372 | USH2A | c.11924C>G (p.Ala3975Gly) | gnomAD v4 |
| 1 | g.215728172G>T | CA344828373 | USH2A | c.11924C>A (p.Ala3975Asp) | |
| 1 | g.215728173C>A | CA344828376 | USH2A | c.11923G>T (p.Ala3975Ser) | |
| 1 | g.215728173C= | CA1143855806 | USH2A | c.11923G= (p.Ala3975=) | |
| 1 | g.215728173C>G | CA344828380 | USH2A | c.11923G>C (p.Ala3975Pro) | gnomAD v4 |
| 1 | g.215728173C>T | CA1393597 | USH2A | c.11923G>A (p.Ala3975Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728174T>A | CA344828387 | USH2A | c.11922A>T (p.Gln3974His) | |
| 1 | g.215728174T>C | CA1393598 | USH2A | c.11922A>G (p.Gln3974=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728174T>G | CA344828391 | USH2A | c.11922A>C (p.Gln3974His) | gnomAD v4 |
| 1 | g.215728174T= | CA1220396518 | USH2A | c.11922A= (p.Gln3974=) | |
| 1 | g.215728175T>A | CA344828397 | USH2A | c.11921A>T (p.Gln3974Leu) | |
| 1 | g.215728175T>C | CA344828400 | USH2A | c.11921A>G (p.Gln3974Arg) | |
| 1 | g.215728175T>G | CA344828394 | USH2A | c.11921A>C (p.Gln3974Pro) | |
| 1 | g.215728176G>A | CA344828405 | USH2A | c.11920C>T (p.Gln3974Ter) | gnomAD v4 |
| 1 | g.215728176G>C | CA344828402 | USH2A | c.11920C>G (p.Gln3974Glu) | |
| 1 | g.215728176G= | CA1141050982 | USH2A | c.11920C= (p.Gln3974=) | |
| 1 | g.215728176G>T | CA1393599 | USH2A | c.11920C>A (p.Gln3974Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728177A= | CA1220396519 | USH2A | c.11919T= (p.Ala3973=) | |
| 1 | g.215728177A>C | CA423430029 | USH2A | c.11919T>G (p.Ala3973=) | |
| 1 | g.215728177A>G | CA423430031 | USH2A | c.11919T>C (p.Ala3973=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215728177A>T | CA423430030 | USH2A | c.11919T>A (p.Ala3973=) | |
| 1 | g.215728178del | CA2586968140 | USH2A | c.11918del (p.Ala3973ValfsTer11) | |
| 1 | g.215728178G>A | CA344828406 | USH2A | c.11918C>T (p.Ala3973Val) | gnomAD v4 |
| 1 | g.215728178G>C | CA344828407 | USH2A | c.11918C>G (p.Ala3973Gly) | |
| 1 | g.215728178G>T | CA344828410 | USH2A | c.11918C>A (p.Ala3973Asp) | |
| 1 | g.215728179C>A | CA344828413 | USH2A | c.11917G>T (p.Ala3973Ser) | |
| 1 | g.215728179C>G | CA344828415 | USH2A | c.11917G>C (p.Ala3973Pro) | |
| 1 | g.215728179C>T | CA344828421 | USH2A | c.11917G>A (p.Ala3973Thr) | |
| 1 | g.215728180C>A | CA37395327 | USH2A | c.11916G>T (p.Trp3972Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728180C= | CA1220396520 | USH2A | c.11916G= (p.Trp3972=) | |
| 1 | g.215728180C>G | CA344828426 | USH2A | c.11916G>C (p.Trp3972Cys) | |
| 1 | g.215728180C>T | CA344828429 | USH2A | c.11916G>A (p.Trp3972Ter) | COSMIC COSMIC |
| 1 | g.215728181C>A | CA344828434 | USH2A | c.11915G>T (p.Trp3972Leu) | |
| 1 | g.215728181C>G | CA344828436 | USH2A | c.11915G>C (p.Trp3972Ser) | |
| 1 | g.215728181C>T | CA344828438 | USH2A | c.11915G>A (p.Trp3972Ter) | |
| 1 | g.215728182A>C | CA344828449 | USH2A | c.11914T>G (p.Trp3972Gly) | |
| 1 | g.215728182A>G | CA344828454 | USH2A | c.11914T>C (p.Trp3972Arg) | |
| 1 | g.215728182A>T | CA344828450 | USH2A | c.11914T>A (p.Trp3972Arg) | |
| 1 | g.215728183A= | CA1220396521 | USH2A | c.11913T= (p.Pro3971=) | |
| 1 | g.215728183A>C | CA423430032 | USH2A | c.11913T>G (p.Pro3971=) | ClinVar |
| 1 | g.215728183A>G | CA1393600 | USH2A | c.11913T>C (p.Pro3971=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728183A>T | CA423430033 | USH2A | c.11913T>A (p.Pro3971=) | dbSNP |
| 1 | g.215728184G>A | CA1393601 | USH2A | c.11912C>T (p.Pro3971Leu) | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215728184G>C | CA344828464 | USH2A | c.11912C>G (p.Pro3971Arg) | |
| 1 | g.215728184G= | CA1148890919 | USH2A | c.11912C= (p.Pro3971=) | |
| 1 | g.215728184G>T | CA344828477 | USH2A | c.11912C>A (p.Pro3971His) | |
| 1 | g.215728185G>A | CA344828480 | USH2A | c.11911C>T (p.Pro3971Ser) | |
| 1 | g.215728185G>C | CA344828488 | USH2A | c.11911C>G (p.Pro3971Ala) | gnomAD v4 |
| 1 | g.215728185G>T | CA344828490 | USH2A | c.11911C>A (p.Pro3971Thr) | |
| 1 | g.215728186A>C | CA423430034 | USH2A | c.11910T>G (p.Ala3970=) | |
| 1 | g.215728186A>G | CA423430035 | USH2A | c.11910T>C (p.Ala3970=) | |
| 1 | g.215728186A>T | CA423430036 | USH2A | c.11910T>A (p.Ala3970=) | |
| 1 | g.215728187G>A | CA344828493 | USH2A | c.11909C>T (p.Ala3970Val) | COSMIC |
| 1 | g.215728187G>C | CA344828498 | USH2A | c.11909C>G (p.Ala3970Gly) | |
| 1 | g.215728187G>T | CA344828510 | USH2A | c.11909C>A (p.Ala3970Asp) | |
| 1 | g.215728188C>A | CA344828524 | USH2A | c.11908G>T (p.Ala3970Ser) | |
| 1 | g.215728188C>G | CA344828527 | USH2A | c.11908G>C (p.Ala3970Pro) | |
| 1 | g.215728188C>T | CA344828521 | USH2A | c.11908G>A (p.Ala3970Thr) | |
| 1 | g.215728189del | CA2586968141 | USH2A | c.11907del (p.Ala3970LeufsTer14) | |
| 1 | g.215728189T>A | CA143273 | USH2A | c.11907A>T (p.Pro3969=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728189T>C | CA423430037 | USH2A | c.11907A>G (p.Pro3969=) | |
| 1 | g.215728189T>G | CA423430038 | USH2A | c.11907A>C (p.Pro3969=) | |
| 1 | g.215728189T= | CA1140723199 | USH2A | c.11907A= (p.Pro3969=) | |
| 1 | g.215728190G>A | CA344828537 | USH2A | c.11906C>T (p.Pro3969Leu) | |
| 1 | g.215728190G>C | CA344828544 | USH2A | c.11906C>G (p.Pro3969Arg) | |
| 1 | g.215728190G>T | CA344828547 | USH2A | c.11906C>A (p.Pro3969Gln) | |
| 1 | g.215728191G>A | CA344828553 | USH2A | c.11905C>T (p.Pro3969Ser) | dbSNP |
| 1 | g.215728191G>C | CA344828569 | USH2A | c.11905C>G (p.Pro3969Ala) | gnomAD v4 |
| 1 | g.215728191G= | CA1220396522 | USH2A | c.11905C= (p.Pro3969=) | |
| 1 | g.215728191G>T | CA344828581 | USH2A | c.11905C>A (p.Pro3969Thr) | |
| 1 | g.215728192A= | CA1220396523 | USH2A | c.11904T= (p.Phe3968=) | |
| 1 | g.215728192A>C | CA344828592 | USH2A | c.11904T>G (p.Phe3968Leu) | |
| 1 | g.215728192A>G | CA37395374 | USH2A | c.11904T>C (p.Phe3968=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215728192A>T | CA344828600 | USH2A | c.11904T>A (p.Phe3968Leu) | |
| 1 | g.215728193A>C | CA344828603 | USH2A | c.11903T>G (p.Phe3968Cys) | |
| 1 | g.215728193A>G | CA344828605 | USH2A | c.11903T>C (p.Phe3968Ser) | |
| 1 | g.215728193A>T | CA344828609 | USH2A | c.11903T>A (p.Phe3968Tyr) | |
| 1 | g.215728194A>C | CA344828617 | USH2A | c.11902T>G (p.Phe3968Val) | |
| 1 | g.215728194A>G | CA344828612 | USH2A | c.11902T>C (p.Phe3968Leu) | |
| 1 | g.215728194A>T | CA344828615 | USH2A | c.11902T>A (p.Phe3968Ile) | |
| 1 | g.215728195A>C | CA344828619 | USH2A | c.11901T>G (p.Asp3967Glu) | |
| 1 | g.215728195A>G | CA423430039 | USH2A | c.11901T>C (p.Asp3967=) | |
| 1 | g.215728195A>T | CA344828639 | USH2A | c.11901T>A (p.Asp3967Glu) | |
| 1 | g.215728196T>A | CA344828642 | USH2A | c.11900A>T (p.Asp3967Val) | |
| 1 | g.215728196T>C | CA344828645 | USH2A | c.11900A>G (p.Asp3967Gly) | gnomAD v4 COSMIC COSMIC |
| 1 | g.215728196T>G | CA344828649 | USH2A | c.11900A>C (p.Asp3967Ala) | |
| 1 | g.215728197C>A | CA344828662 | USH2A | c.11899G>T (p.Asp3967Tyr) | |
| 1 | g.215728197C>G | CA344828663 | USH2A | c.11899G>C (p.Asp3967His) | COSMIC COSMIC |
| 1 | g.215728197C>T | CA344828664 | USH2A | c.11899G>A (p.Asp3967Asn) | |
| 1 | g.215728198T>A | CA344828665 | USH2A | c.11898A>T (p.Gln3966His) | |
| 1 | g.215728198T>C | CA423430040 | USH2A | c.11898A>G (p.Gln3966=) | |
| 1 | g.215728198T>G | CA344828666 | USH2A | c.11898A>C (p.Gln3966His) | |
| 1 | g.215728199T>A | CA344828667 | USH2A | c.11897A>T (p.Gln3966Leu) | |
| 1 | g.215728199T>C | CA344828671 | USH2A | c.11897A>G (p.Gln3966Arg) | |
| 1 | g.215728199T>G | CA344828680 | USH2A | c.11897A>C (p.Gln3966Pro) | |
| 1 | g.215728200G>A | CA344828685 | USH2A | c.11896C>T (p.Gln3966Ter) | |
| 1 | g.215728200G>C | CA344828688 | USH2A | c.11896C>G (p.Gln3966Glu) | |
| 1 | g.215728200G>T | CA344828683 | USH2A | c.11896C>A (p.Gln3966Lys) | |
| 1 | g.215728200_215728201delinsGA | CA1220396524 | USH2A | c.11895_11896delinsTC (p.Pro3965=) | |
| 1 | g.215728201del | CA916082119 | USH2A | c.11895del (p.Gln3966LysfsTer18) | ClinVar dbSNP |
| 1 | g.215728201A>C | CA423430041 | USH2A | c.11895T>G (p.Pro3965=) | |
| 1 | g.215728201A>G | CA423430042 | USH2A | c.11895T>C (p.Pro3965=) | |
| 1 | g.215728201A>T | CA423430043 | USH2A | c.11895T>A (p.Pro3965=) | |
| 1 | g.215728202G>A | CA1393602 | USH2A | c.11894C>T (p.Pro3965Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728202G>C | CA344828689 | USH2A | c.11894C>G (p.Pro3965Arg) | |
| 1 | g.215728202G= | CA1141832499 | USH2A | c.11894C= (p.Pro3965=) | |
| 1 | g.215728202G>T | CA344828690 | USH2A | c.11894C>A (p.Pro3965His) | |
| 1 | g.215728203G>A | CA1393603 | USH2A | c.11893C>T (p.Pro3965Ser) | dbSNP ExAC gnomAD v4 |
| 1 | g.215728203G>C | CA344828697 | USH2A | c.11893C>G (p.Pro3965Ala) | gnomAD v4 COSMIC COSMIC |
| 1 | g.215728203G= | CA1148435507 | USH2A | c.11893C= (p.Pro3965=) | |
| 1 | g.215728203G>T | CA344828699 | USH2A | c.11893C>A (p.Pro3965Thr) | |
| 1 | g.215728204T>A | CA423430044 | USH2A | c.11892A>T (p.Pro3964=) | |
| 1 | g.215728204T>C | CA423430045 | USH2A | c.11892A>G (p.Pro3964=) | gnomAD v4 |
| 1 | g.215728204T>G | CA423430046 | USH2A | c.11892A>C (p.Pro3964=) | dbSNP |
| 1 | g.215728204T= | CA1220396525 | USH2A | c.11892A= (p.Pro3964=) | |
| 1 | g.215728205G>A | CA344828713 | USH2A | c.11891C>T (p.Pro3964Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215728205G>C | CA344828706 | USH2A | c.11891C>G (p.Pro3964Arg) | |
| 1 | g.215728205G= | CA1220396526 | USH2A | c.11891C= (p.Pro3964=) | |
| 1 | g.215728205G>T | CA344828704 | USH2A | c.11891C>A (p.Pro3964Gln) | |
| 1 | g.215728206G>A | CA344828716 | USH2A | c.11890C>T (p.Pro3964Ser) | |
| 1 | g.215728206G>C | CA344828718 | USH2A | c.11890C>G (p.Pro3964Ala) | |
| 1 | g.215728206G>T | CA344828729 | USH2A | c.11890C>A (p.Pro3964Thr) | |
| 1 | g.215728207A>C | CA423430049 | USH2A | c.11889T>G (p.Ala3963=) | gnomAD v4 |
| 1 | g.215728207A>G | CA423430047 | USH2A | c.11889T>C (p.Ala3963=) | |
| 1 | g.215728207A>T | CA423430048 | USH2A | c.11889T>A (p.Ala3963=) | |
| 1 | g.215728208G>A | CA344828732 | USH2A | c.11888C>T (p.Ala3963Val) | |
| 1 | g.215728208G>C | CA344828737 | USH2A | c.11888C>G (p.Ala3963Gly) | |
| 1 | g.215728208G>T | CA344828740 | USH2A | c.11888C>A (p.Ala3963Asp) | COSMIC |
| 1 | g.215728209C>A | CA344828745 | USH2A | c.11887G>T (p.Ala3963Ser) | |
| 1 | g.215728209C= | CA1145326385 | USH2A | c.11887G= (p.Ala3963=) | |
| 1 | g.215728209C>G | CA344828762 | USH2A | c.11887G>C (p.Ala3963Pro) | |
| 1 | g.215728209C>T | CA1393604 | USH2A | c.11887G>A (p.Ala3963Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728210T>A | CA344828764 | USH2A | c.11886A>T (p.Glu3962Asp) | |
| 1 | g.215728210T>C | CA423430050 | USH2A | c.11886A>G (p.Glu3962=) | |
| 1 | g.215728210T>G | CA344828767 | USH2A | c.11886A>C (p.Glu3962Asp) |