UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.215779851G>A | CA1393889 | USH2A | c.10931C>T (p.Thr3644Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215779851G>C | CA344833006 | USH2A | c.10931C>G (p.Thr3644Arg) | COSMIC COSMIC |
| 1 | g.215779851G= | CA1142802152 | USH2A | c.10931C= (p.Thr3644=) | |
| 1 | g.215779851G>T | CA1393890 | USH2A | c.10931C>A (p.Thr3644Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215779852T>A | CA344833015 | USH2A | c.10930A>T (p.Thr3644Ser) | dbSNP gnomAD v2 |
| 1 | g.215779852T>C | CA344833019 | USH2A | c.10930A>G (p.Thr3644Ala) | |
| 1 | g.215779852T>G | CA344833024 | USH2A | c.10930A>C (p.Thr3644Pro) | |
| 1 | g.215779852T= | CA1220414395 | USH2A | c.10930A= (p.Thr3644=) | |
| 1 | g.215779853A>C | CA344833032 | USH2A | c.10929T>G (p.His3643Gln) | |
| 1 | g.215779853A>G | CA423312886 | USH2A | c.10929T>C (p.His3643=) | |
| 1 | g.215779853A>T | CA344833046 | USH2A | c.10929T>A (p.His3643Gln) | |
| 1 | g.215779854del | CA2586968153 | USH2A | c.10928del (p.His3643LeufsTer?) | |
| 1 | g.215779854T>A | CA344833050 | USH2A | c.10928A>T (p.His3643Leu) | ClinVar |
| 1 | g.215779854T>C | CA1393891 | USH2A | c.10928A>G (p.His3643Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215779854T>G | CA344833053 | USH2A | c.10928A>C (p.His3643Pro) | |
| 1 | g.215779854T= | CA1220414412 | USH2A | c.10928A= (p.His3643=) | |
| 1 | g.215779855G>A | CA344833067 | USH2A | c.10927C>T (p.His3643Tyr) | dbSNP |
| 1 | g.215779855G>C | CA344833058 | USH2A | c.10927C>G (p.His3643Asp) | |
| 1 | g.215779855G= | CA1220414416 | USH2A | c.10927C= (p.His3643=) | |
| 1 | g.215779855G>T | CA344833063 | USH2A | c.10927C>A (p.His3643Asn) | gnomAD v4 |
| 1 | g.215779856C>A | CA344833068 | USH2A | c.10926G>T (p.Gln3642His) | |
| 1 | g.215779856C>G | CA344833069 | USH2A | c.10926G>C (p.Gln3642His) | |
| 1 | g.215779856C>T | CA423312890 | USH2A | c.10926G>A (p.Gln3642=) | gnomAD v4 |
| 1 | g.215779857T>A | CA344833074 | USH2A | c.10925A>T (p.Gln3642Leu) | |
| 1 | g.215779857T>C | CA344833079 | USH2A | c.10925A>G (p.Gln3642Arg) | |
| 1 | g.215779857T>G | CA344833084 | USH2A | c.10925A>C (p.Gln3642Pro) | |
| 1 | g.215779858G>A | CA344833089 | USH2A | c.10924C>T (p.Gln3642Ter) | ClinVar dbSNP gnomAD v2 COSMIC COSMIC |
| 1 | g.215779858G>C | CA1393892 | USH2A | c.10924C>G (p.Gln3642Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215779858G= | CA1220414419 | USH2A | c.10924C= (p.Gln3642=) | |
| 1 | g.215779858G>T | CA344833097 | USH2A | c.10924C>A (p.Gln3642Lys) | ClinVar |
| 1 | g.215779859T>A | CA344833098 | USH2A | c.10923A>T (p.Arg3641Ser) | |
| 1 | g.215779859T>C | CA423312893 | USH2A | c.10923A>G (p.Arg3641=) | ClinVar |
| 1 | g.215779859T>G | CA344833099 | USH2A | c.10923A>C (p.Arg3641Ser) | |
| 1 | g.215779860C>A | CA344833101 | USH2A | c.10922G>T (p.Arg3641Ile) | |
| 1 | g.215779860C= | CA1144229150 | USH2A | c.10922G= (p.Arg3641=) | |
| 1 | g.215779860C>G | CA344833103 | USH2A | c.10922G>C (p.Arg3641Thr) | |
| 1 | g.215779860C>T | CA143239 | USH2A | c.10922G>A (p.Arg3641Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215779861T>A | CA344833112 | USH2A | c.10921A>T (p.Arg3641Ter) | |
| 1 | g.215779861T>C | CA344833109 | USH2A | c.10921A>G (p.Arg3641Gly) | |
| 1 | g.215779861T>G | CA423312895 | USH2A | c.10921A>C (p.Arg3641=) | |
| 1 | g.215779862C>A | CA344833116 | USH2A | c.10920G>T (p.Arg3640Ser) | COSMIC COSMIC |
| 1 | g.215779862C>G | CA344833121 | USH2A | c.10920G>C (p.Arg3640Ser) | |
| 1 | g.215779862C>T | CA423312896 | USH2A | c.10920G>A (p.Arg3640=) | COSMIC COSMIC |
| 1 | g.215779863C>A | CA344833124 | USH2A | c.10919G>T (p.Arg3640Met) | |
| 1 | g.215779863C= | CA1220414430 | USH2A | c.10919G= (p.Arg3640=) | |
| 1 | g.215779863C>G | CA344833127 | USH2A | c.10919G>C (p.Arg3640Thr) | |
| 1 | g.215779863C>T | CA344833135 | USH2A | c.10919G>A (p.Arg3640Lys) | dbSNP gnomAD v4 |
| 1 | g.215779864T>A | CA1393893 | USH2A | c.10918A>T (p.Arg3640Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215779864T>C | CA344833150 | USH2A | c.10918A>G (p.Arg3640Gly) | dbSNP COSMIC COSMIC |
| 1 | g.215779864T>G | CA423312903 | USH2A | c.10918A>C (p.Arg3640=) | |
| 1 | g.215779864T= | CA1220414435 | USH2A | c.10918A= (p.Arg3640=) | |
| 1 | g.215779865G>A | CA423312905 | USH2A | c.10917C>T (p.Asp3639=) | |
| 1 | g.215779865G>C | CA344833154 | USH2A | c.10917C>G (p.Asp3639Glu) | |
| 1 | g.215779865G>T | CA344833155 | USH2A | c.10917C>A (p.Asp3639Glu) | |
| 1 | g.215779866T>A | CA344833156 | USH2A | c.10916A>T (p.Asp3639Val) | |
| 1 | g.215779866T>C | CA344833160 | USH2A | c.10916A>G (p.Asp3639Gly) | |
| 1 | g.215779866T>G | CA344833163 | USH2A | c.10916A>C (p.Asp3639Ala) | |
| 1 | g.215779867C>A | CA344833169 | USH2A | c.10915G>T (p.Asp3639Tyr) | |
| 1 | g.215779867C= | CA1220414439 | USH2A | c.10915G= (p.Asp3639=) | |
| 1 | g.215779867C>G | CA344833174 | USH2A | c.10915G>C (p.Asp3639His) | |
| 1 | g.215779867C>T | CA1393894 | USH2A | c.10915G>A (p.Asp3639Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215779868A= | CA1220414443 | USH2A | c.10914T= (p.Thr3638=) | |
| 1 | g.215779868A>C | CA423312907 | USH2A | c.10914T>G (p.Thr3638=) | |
| 1 | g.215779868A>G | CA423312908 | USH2A | c.10914T>C (p.Thr3638=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215779868A>T | CA423312909 | USH2A | c.10914T>A (p.Thr3638=) | |
| 1 | g.215779869G>A | CA344833190 | USH2A | c.10913C>T (p.Thr3638Ile) | |
| 1 | g.215779869G>C | CA344833182 | USH2A | c.10913C>G (p.Thr3638Ser) | |
| 1 | g.215779869G>T | CA344833187 | USH2A | c.10913C>A (p.Thr3638Asn) | |
| 1 | g.215779870T>A | CA344833197 | USH2A | c.10912A>T (p.Thr3638Ser) | |
| 1 | g.215779870T>C | CA344833199 | USH2A | c.10912A>G (p.Thr3638Ala) | |
| 1 | g.215779870T>G | CA344833201 | USH2A | c.10912A>C (p.Thr3638Pro) | |
| 1 | g.215779871G>A | CA423312913 | USH2A | c.10911C>T (p.Thr3637=) | gnomAD v4 |
| 1 | g.215779871G>C | CA423312914 | USH2A | c.10911C>G (p.Thr3637=) | |
| 1 | g.215779871G= | CA1220414446 | USH2A | c.10911C= (p.Thr3637=) | |
| 1 | g.215779871G>T | CA423312912 | USH2A | c.10911C>A (p.Thr3637=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215779872G>A | CA344833204 | USH2A | c.10910C>T (p.Thr3637Ile) | gnomAD v4 |
| 1 | g.215779872G>C | CA344833207 | USH2A | c.10910C>G (p.Thr3637Ser) | |
| 1 | g.215779872G>T | CA344833209 | USH2A | c.10910C>A (p.Thr3637Asn) | |
| 1 | g.215779873T>A | CA344833215 | USH2A | c.10909A>T (p.Thr3637Ser) | |
| 1 | g.215779873T>C | CA344833218 | USH2A | c.10909A>G (p.Thr3637Ala) | |
| 1 | g.215779873T>G | CA344833219 | USH2A | c.10909A>C (p.Thr3637Pro) | ClinVar |
| 1 | g.215779874G>A | CA423312921 | USH2A | c.10908C>T (p.Asp3636=) | |
| 1 | g.215779874G>C | CA344833228 | USH2A | c.10908C>G (p.Asp3636Glu) | |
| 1 | g.215779874G>T | CA344833231 | USH2A | c.10908C>A (p.Asp3636Glu) | |
| 1 | g.215779875T>A | CA1393895 | USH2A | c.10907A>T (p.Asp3636Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215779875T>C | CA344833257 | USH2A | c.10907A>G (p.Asp3636Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215779875T>G | CA344833237 | USH2A | c.10907A>C (p.Asp3636Ala) | |
| 1 | g.215779875T= | CA1220414448 | USH2A | c.10907A= (p.Asp3636=) | |
| 1 | g.215779876C>A | CA344833263 | USH2A | c.10906G>T (p.Asp3636Tyr) | gnomAD v4 |
| 1 | g.215779876C>G | CA344833275 | USH2A | c.10906G>C (p.Asp3636His) | gnomAD v4 |
| 1 | g.215779876C>T | CA344833281 | USH2A | c.10906G>A (p.Asp3636Asn) | |
| 1 | g.215779877A>C | CA423312927 | USH2A | c.10905T>G (p.Thr3635=) | |
| 1 | g.215779877A>G | CA423312929 | USH2A | c.10905T>C (p.Thr3635=) | |
| 1 | g.215779877A>T | CA423312928 | USH2A | c.10905T>A (p.Thr3635=) | |
| 1 | g.215779878G>A | CA37435689 | USH2A | c.10904C>T (p.Thr3635Ile) | dbSNP gnomAD v4 |
| 1 | g.215779878G>C | CA344833287 | USH2A | c.10904C>G (p.Thr3635Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215779878G= | CA1148224982 | USH2A | c.10904C= (p.Thr3635=) | |
| 1 | g.215779878G>T | CA185250 | USH2A | c.10904C>A (p.Thr3635Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215779879T>A | CA344833302 | USH2A | c.10903A>T (p.Thr3635Ser) | |
| 1 | g.215779879T>C | CA344833297 | USH2A | c.10903A>G (p.Thr3635Ala) | |
| 1 | g.215779879T>G | CA1393896 | USH2A | c.10903A>C (p.Thr3635Pro) | ClinVar dbSNP ExAC |
| 1 | g.215779879T= | CA1220414458 | USH2A | c.10903A= (p.Thr3635=) | |
| 1 | g.215779879_215779880insC | CA2586968154 | USH2A | c.10902_10903insG (p.Thr3635AspfsTer2) | |
| 1 | g.215779880G>A | CA423312932 | USH2A | c.10902C>T (p.His3634=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215779880G>C | CA344833305 | USH2A | c.10902C>G (p.His3634Gln) | |
| 1 | g.215779880G= | CA1220414461 | USH2A | c.10902C= (p.His3634=) | |
| 1 | g.215779880G>T | CA344833307 | USH2A | c.10902C>A (p.His3634Gln) | |
| 1 | g.215779881T>A | CA344833310 | USH2A | c.10901A>T (p.His3634Leu) | |
| 1 | g.215779881T>C | CA344833312 | USH2A | c.10901A>G (p.His3634Arg) | ClinVar dbSNP |
| 1 | g.215779881T>G | CA344833315 | USH2A | c.10901A>C (p.His3634Pro) | |
| 1 | g.215779881T= | CA1220414464 | USH2A | c.10901A= (p.His3634=) | |
| 1 | g.215779882G>A | CA344833319 | USH2A | c.10900C>T (p.His3634Tyr) | |
| 1 | g.215779882G>C | CA344833326 | USH2A | c.10900C>G (p.His3634Asp) | |
| 1 | g.215779882G>T | CA344833323 | USH2A | c.10900C>A (p.His3634Asn) | |
| 1 | g.215779882_215779883insT | CA2564439479 | USH2A | c.10899_10900insA (p.His3634ThrfsTer3) | |
| 1 | g.215779883G>A | CA423312933 | USH2A | c.10899C>T (p.Ile3633=) | gnomAD v4 |
| 1 | g.215779883G>C | CA344833330 | USH2A | c.10899C>G (p.Ile3633Met) | |
| 1 | g.215779883G>T | CA423312934 | USH2A | c.10899C>A (p.Ile3633=) | |
| 1 | g.215779883_215779884insTTTGAT | CA2513813738 | USH2A | c.10898_10899insATCAAA (p.Ile3633_His3634insSerAsn) | |
| 1 | g.215779884A= | CA1220414468 | USH2A | c.10898T= (p.Ile3633=) | |
| 1 | g.215779884A>C | CA344833339 | USH2A | c.10898T>G (p.Ile3633Ser) | |
| 1 | g.215779884A>G | CA344833341 | USH2A | c.10898T>C (p.Ile3633Thr) | dbSNP gnomAD v2 |
| 1 | g.215779884A>T | CA344833344 | USH2A | c.10898T>A (p.Ile3633Asn) | |
| 1 | g.215779885T>A | CA344833348 | USH2A | c.10897A>T (p.Ile3633Phe) | |
| 1 | g.215779885T>C | CA344833352 | USH2A | c.10897A>G (p.Ile3633Val) | gnomAD v4 |
| 1 | g.215779885T>G | CA344833358 | USH2A | c.10897A>C (p.Ile3633Leu) | gnomAD v4 |
| 1 | g.215779886G>A | CA183666 | USH2A | c.10896C>T (p.Leu3632=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215779886G>C | CA423312935 | USH2A | c.10896C>G (p.Leu3632=) | |
| 1 | g.215779886G= | CA1143407795 | USH2A | c.10896C= (p.Leu3632=) | |
| 1 | g.215779886G>T | CA423312936 | USH2A | c.10896C>A (p.Leu3632=) | |
| 1 | g.215779887A= | CA1220414478 | USH2A | c.10895T= (p.Leu3632=) | |
| 1 | g.215779887A>C | CA344833368 | USH2A | c.10895T>G (p.Leu3632Arg) | |
| 1 | g.215779887A>G | CA344833370 | USH2A | c.10895T>C (p.Leu3632Pro) | dbSNP |
| 1 | g.215779887A>T | CA344833373 | USH2A | c.10895T>A (p.Leu3632His) | |
| 1 | g.215779887_215779888insTATAT | CA1220414481 | USH2A | c.10894_10895insATATA (p.Leu3632HisfsTer?) | dbSNP |
| 1 | g.215779888G>A | CA344833382 | USH2A | c.10894C>T (p.Leu3632Phe) | gnomAD v4 |
| 1 | g.215779888G>C | CA344833380 | USH2A | c.10894C>G (p.Leu3632Val) | |
| 1 | g.215779888G= | CA1220414482 | USH2A | c.10894C= (p.Leu3632=) | |
| 1 | g.215779888G>T | CA344833379 | USH2A | c.10894C>A (p.Leu3632Ile) | |
| 1 | g.215779889A>C | CA423312937 | USH2A | c.10893T>G (p.Gly3631=) | |
| 1 | g.215779889A>G | CA423312938 | USH2A | c.10893T>C (p.Gly3631=) | |
| 1 | g.215779889A>T | CA423312939 | USH2A | c.10893T>A (p.Gly3631=) | |
| 1 | g.215779889_215779890insGGTCA | CA1220414484 | USH2A | c.10893_10894insGACCT (p.Leu3632AspfsTer?) | dbSNP |
| 1 | g.215779890C>A | CA37435691 | USH2A | c.10892G>T (p.Gly3631Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215779890C= | CA1220414487 | USH2A | c.10892G= (p.Gly3631=) | |
| 1 | g.215779890C>G | CA344833392 | USH2A | c.10892G>C (p.Gly3631Ala) | |
| 1 | g.215779890C>T | CA344833390 | USH2A | c.10892G>A (p.Gly3631Asp) | |
| 1 | g.215779891C>A | CA344833397 | USH2A | c.10891G>T (p.Gly3631Cys) | |
| 1 | g.215779891C= | CA1220414491 | USH2A | c.10891G= (p.Gly3631=) | |
| 1 | g.215779891C>G | CA344833400 | USH2A | c.10891G>C (p.Gly3631Arg) | |
| 1 | g.215779891C>T | CA344833405 | USH2A | c.10891G>A (p.Gly3631Ser) | dbSNP |
| 1 | g.215779892T>A | CA344833408 | USH2A | c.10890A>T (p.Lys3630Asn) | |
| 1 | g.215779892T>C | CA423312940 | USH2A | c.10890A>G (p.Lys3630=) | ClinVar dbSNP |
| 1 | g.215779892T>G | CA344833412 | USH2A | c.10890A>C (p.Lys3630Asn) | |
| 1 | g.215779892T= | CA1220414494 | USH2A | c.10890A= (p.Lys3630=) | |
| 1 | g.215779894del | CA2586968156 | USH2A | c.10890del (p.Gly3631ValfsTer?) | |
| 1 | g.215779893T>A | CA344833416 | USH2A | c.10889A>T (p.Lys3630Ile) | |
| 1 | g.215779893T>C | CA344833419 | USH2A | c.10889A>G (p.Lys3630Arg) | |
| 1 | g.215779893T>G | CA344833421 | USH2A | c.10889A>C (p.Lys3630Thr) | gnomAD v4 |
| 1 | g.215779894T>A | CA344833428 | USH2A | c.10888A>T (p.Lys3630Ter) | |
| 1 | g.215779894T>C | CA344833432 | USH2A | c.10888A>G (p.Lys3630Glu) | gnomAD v4 |
| 1 | g.215779894T>G | CA344833435 | USH2A | c.10888A>C (p.Lys3630Gln) | |
| 1 | g.215779895C>A | CA423312941 | USH2A | c.10887G>T (p.Gly3629=) | gnomAD v4 |
| 1 | g.215779895C>G | CA423312943 | USH2A | c.10887G>C (p.Gly3629=) | |
| 1 | g.215779895C>T | CA423312942 | USH2A | c.10887G>A (p.Gly3629=) | |
| 1 | g.215779896C>A | CA344833445 | USH2A | c.10886G>T (p.Gly3629Val) | |
| 1 | g.215779896C= | CA1143537215 | USH2A | c.10886G= (p.Gly3629=) | |
| 1 | g.215779896C>G | CA344833442 | USH2A | c.10886G>C (p.Gly3629Ala) | |
| 1 | g.215779896C>T | CA1393897 | USH2A | c.10886G>A (p.Gly3629Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.215779897C>A | CA344833448 | USH2A | c.10885G>T (p.Gly3629Trp) | |
| 1 | g.215779897C>G | CA344833452 | USH2A | c.10885G>C (p.Gly3629Arg) | |
| 1 | g.215779897C>T | CA344833455 | USH2A | c.10885G>A (p.Gly3629Arg) | |
| 1 | g.215779898A= | CA1220414497 | USH2A | c.10884T= (p.Val3628=) | |
| 1 | g.215779898A>C | CA423312946 | USH2A | c.10884T>G (p.Val3628=) | dbSNP |
| 1 | g.215779898A>G | CA423312945 | USH2A | c.10884T>C (p.Val3628=) | |
| 1 | g.215779898A>T | CA423312944 | USH2A | c.10884T>A (p.Val3628=) | |
| 1 | g.215779899A= | CA1220414499 | USH2A | c.10883T= (p.Val3628=) | |
| 1 | g.215779899A>C | CA344833459 | USH2A | c.10883T>G (p.Val3628Gly) | |
| 1 | g.215779899A>G | CA1393898 | USH2A | c.10883T>C (p.Val3628Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215779899A>T | CA344833465 | USH2A | c.10883T>A (p.Val3628Asp) | dbSNP |
| 1 | g.215779900C>A | CA344833469 | USH2A | c.10882G>T (p.Val3628Phe) | gnomAD v4 |
| 1 | g.215779900C= | CA1220414503 | USH2A | c.10882G= (p.Val3628=) | |
| 1 | g.215779900C>G | CA344833473 | USH2A | c.10882G>C (p.Val3628Leu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215779900C>T | CA344833476 | USH2A | c.10882G>A (p.Val3628Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215779901C>A | CA344833478 | USH2A | c.10881G>T (p.Gln3627His) | |
| 1 | g.215779901C= | CA1220414505 | USH2A | c.10881G= (p.Gln3627=) | |
| 1 | g.215779901C>G | CA344833481 | USH2A | c.10881G>C (p.Gln3627His) | |
| 1 | g.215779901C>T | CA1393899 | USH2A | c.10881G>A (p.Gln3627=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215779902T>A | CA344833493 | USH2A | c.10880A>T (p.Gln3627Leu) | gnomAD v4 |
| 1 | g.215779902T>C | CA344833490 | USH2A | c.10880A>G (p.Gln3627Arg) | |
| 1 | g.215779902T>G | CA344833487 | USH2A | c.10880A>C (p.Gln3627Pro) | |
| 1 | g.215779903G>A | CA344833508 | USH2A | c.10879C>T (p.Gln3627Ter) | dbSNP gnomAD v4 |
| 1 | g.215779903G>C | CA344833498 | USH2A | c.10879C>G (p.Gln3627Glu) | |
| 1 | g.215779903G= | CA1220414512 | USH2A | c.10879C= (p.Gln3627=) | |
| 1 | g.215779903G>T | CA344833500 | USH2A | c.10879C>A (p.Gln3627Lys) | COSMIC COSMIC |
| 1 | g.215779904C>A | CA1393900 | USH2A | c.10878G>T (p.Arg3626Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215779904C= | CA1220414515 | USH2A | c.10878G= (p.Arg3626=) | |
| 1 | g.215779904C>G | CA344833516 | USH2A | c.10878G>C (p.Arg3626Ser) | |
| 1 | g.215779904C>T | CA423312947 | USH2A | c.10878G>A (p.Arg3626=) | gnomAD v4 |
| 1 | g.215779905C>A | CA344833523 | USH2A | c.10877G>T (p.Arg3626Met) | |
| 1 | g.215779905C>G | CA344833526 | USH2A | c.10877G>C (p.Arg3626Thr) | |
| 1 | g.215779905C>T | CA344833532 | USH2A | c.10877G>A (p.Arg3626Lys) | |
| 1 | g.215779906T>A | CA344833534 | USH2A | c.10876A>T (p.Arg3626Trp) | |
| 1 | g.215779906T>C | CA344833537 | USH2A | c.10876A>G (p.Arg3626Gly) | |
| 1 | g.215779906T>G | CA423312948 | USH2A | c.10876A>C (p.Arg3626=) | |
| 1 | g.215779907G>A | CA423312949 | USH2A | c.10875C>T (p.Ile3625=) | ClinVar |
| 1 | g.215779907G>C | CA344833542 | USH2A | c.10875C>G (p.Ile3625Met) | gnomAD v4 |
| 1 | g.215779907G>T | CA423312950 | USH2A | c.10875C>A (p.Ile3625=) | |
| 1 | g.215779908A>C | CA344833547 | USH2A | c.10874T>G (p.Ile3625Ser) | |
| 1 | g.215779908A>G | CA344833550 | USH2A | c.10874T>C (p.Ile3625Thr) | |
| 1 | g.215779908A>T | CA344833554 | USH2A | c.10874T>A (p.Ile3625Asn) | |
| 1 | g.215779909T>A | CA344833566 | USH2A | c.10873A>T (p.Ile3625Phe) | |
| 1 | g.215779909T>C | CA344833558 | USH2A | c.10873A>G (p.Ile3625Val) | |
| 1 | g.215779909T>G | CA344833562 | USH2A | c.10873A>C (p.Ile3625Leu) | |
| 1 | g.215779910C>A | CA344833569 | USH2A | c.10872G>T (p.Gln3624His) | |
| 1 | g.215779910C>G | CA344833572 | USH2A | c.10872G>C (p.Gln3624His) | |
| 1 | g.215779910C>T | CA423312951 | USH2A | c.10872G>A (p.Gln3624=) | COSMIC COSMIC |
| 1 | g.215779910_215779913delinsCTGG | CA1220414518 | USH2A | c.10869_10872delinsCCAG (p.Tyr3623=) | |
| 1 | g.215779911T>A | CA344833578 | USH2A | c.10871A>T (p.Gln3624Leu) | |
| 1 | g.215779911T>C | CA344833581 | USH2A | c.10871A>G (p.Gln3624Arg) | |
| 1 | g.215779911T>G | CA344833584 | USH2A | c.10871A>C (p.Gln3624Pro) | |
| 1 | g.215779912_215779914del | CA529002319 | USH2A | c.10869_10871del (p.Tyr3623Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215779912G>A | CA344833589 | USH2A | c.10870C>T (p.Gln3624Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215779912G>C | CA344833593 | USH2A | c.10870C>G (p.Gln3624Glu) | |
| 1 | g.215779912G= | CA1220414523 | USH2A | c.10870C= (p.Gln3624=) | |
| 1 | g.215779912G>T | CA344833595 | USH2A | c.10870C>A (p.Gln3624Lys) | |
| 1 | g.215779913G>A | CA423312952 | USH2A | c.10869C>T (p.Tyr3623=) | |
| 1 | g.215779913G>C | CA344833599 | USH2A | c.10869C>G (p.Tyr3623Ter) | |
| 1 | g.215779913G>T | CA344833602 | USH2A | c.10869C>A (p.Tyr3623Ter) | |
| 1 | g.215779914T>A | CA344833607 | USH2A | c.10868A>T (p.Tyr3623Phe) | |
| 1 | g.215779914T>C | CA37435723 | USH2A | c.10868A>G (p.Tyr3623Cys) | dbSNP gnomAD v4 |
| 1 | g.215779914T>G | CA344833616 | USH2A | c.10868A>C (p.Tyr3623Ser) | |
| 1 | g.215779914T= | CA1220414526 | USH2A | c.10868A= (p.Tyr3623=) | |
| 1 | g.215779915A= | CA1220414528 | USH2A | c.10867T= (p.Tyr3623=) | |
| 1 | g.215779915A>C | CA344833624 | USH2A | c.10867T>G (p.Tyr3623Asp) | gnomAD v4 |
| 1 | g.215779915A>G | CA344833627 | USH2A | c.10867T>C (p.Tyr3623His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215779915A>T | CA344833621 | USH2A | c.10867T>A (p.Tyr3623Asn) | |
| 1 | g.215779916C>A | CA344833633 | USH2A | c.10866G>T (p.Glu3622Asp) | |
| 1 | g.215779916C= | CA1149155519 | USH2A | c.10866G= (p.Glu3622=) | |
| 1 | g.215779916C>G | CA1393902 | USH2A | c.10866G>C (p.Glu3622Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215779916C>T | CA1393901 | USH2A | c.10866G>A (p.Glu3622=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215779917T>A | CA344833643 | USH2A | c.10865A>T (p.Glu3622Val) | gnomAD v4 |
| 1 | g.215779917T>C | CA344833646 | USH2A | c.10865A>G (p.Glu3622Gly) | |
| 1 | g.215779917T>G | CA344833650 | USH2A | c.10865A>C (p.Glu3622Ala) | |
| 1 | g.215779918C>A | CA344833656 | USH2A | c.10864G>T (p.Glu3622Ter) | |
| 1 | g.215779918C>G | CA344833658 | USH2A | c.10864G>C (p.Glu3622Gln) | |
| 1 | g.215779918C>T | CA344833662 | USH2A | c.10864G>A (p.Glu3622Lys) | gnomAD v4 |
| 1 | g.215779919T>A | CA344833665 | USH2A | c.10863A>T (p.Lys3621Asn) | |
| 1 | g.215779919T>C | CA423312953 | USH2A | c.10863A>G (p.Lys3621=) | |
| 1 | g.215779919T>G | CA344833668 | USH2A | c.10863A>C (p.Lys3621Asn) | |
| 1 | g.215779920_215779921del | CA2695199993 | USH2A | c.10862_10863del (p.Lys3621ArgfsTer15) | ClinVar |
| 1 | g.215779920T>A | CA344833673 | USH2A | c.10862A>T (p.Lys3621Ile) | |
| 1 | g.215779920T>C | CA344833677 | USH2A | c.10862A>G (p.Lys3621Arg) | |
| 1 | g.215779920T>G | CA344833680 | USH2A | c.10862A>C (p.Lys3621Thr) | |
| 1 | g.215779921T>A | CA344833688 | USH2A | c.10861A>T (p.Lys3621Ter) | ClinVar |
| 1 | g.215779921T>C | CA344833684 | USH2A | c.10861A>G (p.Lys3621Glu) | |
| 1 | g.215779921T>G | CA344833686 | USH2A | c.10861A>C (p.Lys3621Gln) | |
| 1 | g.215779922A>C | CA344833694 | USH2A | c.10860T>G (p.Ile3620Met) | |
| 1 | g.215779922A>G | CA423312956 | USH2A | c.10860T>C (p.Ile3620=) | |
| 1 | g.215779922A>T | CA423312954 | USH2A | c.10860T>A (p.Ile3620=) | |
| 1 | g.215779923A= | CA1220414534 | USH2A | c.10859T= (p.Ile3620=) | |
| 1 | g.215779923A>C | CA344833699 | USH2A | c.10859T>G (p.Ile3620Ser) | |
| 1 | g.215779923A>G | CA1393903 | USH2A | c.10859T>C (p.Ile3620Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.215779923A>T | CA344833701 | USH2A | c.10859T>A (p.Ile3620Asn) | |
| 1 | g.215779924T>A | CA344833705 | USH2A | c.10858A>T (p.Ile3620Phe) | |
| 1 | g.215779924T>C | CA143237 | USH2A | c.10858A>G (p.Ile3620Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215779924T>G | CA344833712 | USH2A | c.10858A>C (p.Ile3620Leu) | |
| 1 | g.215779924T= | CA1142039895 | USH2A | c.10858A= (p.Ile3620=) | |
| 1 | g.215779925G>A | CA423312957 | USH2A | c.10857C>T (p.Val3619=) | |
| 1 | g.215779925G>C | CA423312958 | USH2A | c.10857C>G (p.Val3619=) | |
| 1 | g.215779925G>T | CA423312959 | USH2A | c.10857C>A (p.Val3619=) | ClinVar |
| 1 | g.215779926A>C | CA344833715 | USH2A | c.10856T>G (p.Val3619Gly) | |
| 1 | g.215779926A>G | CA344833716 | USH2A | c.10856T>C (p.Val3619Ala) | |
| 1 | g.215779926A>T | CA344833717 | USH2A | c.10856T>A (p.Val3619Asp) | |
| 1 | g.215779927C>A | CA344833722 | USH2A | c.10855G>T (p.Val3619Phe) | dbSNP |
| 1 | g.215779927C= | CA1140628596 | USH2A | c.10855G= (p.Val3619=) | |
| 1 | g.215779927C>G | CA344833725 | USH2A | c.10855G>C (p.Val3619Leu) | |
| 1 | g.215779927C>T | CA1393904 | USH2A | c.10855G>A (p.Val3619Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215779928G>A | CA423312960 | USH2A | c.10854C>T (p.Gly3618=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215779928G>C | CA423312961 | USH2A | c.10854C>G (p.Gly3618=) | |
| 1 | g.215779928G= | CA1220414551 | USH2A | c.10854C= (p.Gly3618=) | |
| 1 | g.215779928G>T | CA423312962 | USH2A | c.10854C>A (p.Gly3618=) | ClinVar dbSNP |
| 1 | g.215779929C>A | CA344833734 | USH2A | c.10853G>T (p.Gly3618Val) | |
| 1 | g.215779929C= | CA1220414562 | USH2A | c.10853G= (p.Gly3618=) | |
| 1 | g.215779929C>G | CA344833745 | USH2A | c.10853G>C (p.Gly3618Ala) | |
| 1 | g.215779929C>T | CA344833749 | USH2A | c.10853G>A (p.Gly3618Asp) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.215779930C>A | CA344833754 | USH2A | c.10852G>T (p.Gly3618Cys) | |
| 1 | g.215779930C= | CA1220414566 | USH2A | c.10852G= (p.Gly3618=) | |
| 1 | g.215779930C>G | CA344833757 | USH2A | c.10852G>C (p.Gly3618Arg) | |
| 1 | g.215779930C>T | CA1393905 | USH2A | c.10852G>A (p.Gly3618Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215779930_215779937delinsCGTTTGAT | CA1220414572 | USH2A | c.10845_10852delinsATCAAACG (p.Lys3615=) | |
| 1 | g.215779931G>A | CA143235 | USH2A | c.10851C>T (p.Asn3617=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215779931G>C | CA344833770 | USH2A | c.10851C>G (p.Asn3617Lys) | |
| 1 | g.215779931G= | CA1140337371 | USH2A | c.10851C= (p.Asn3617=) | |
| 1 | g.215779931G>T | CA1393906 | USH2A | c.10851C>A (p.Asn3617Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215779931_215779937del | CA1139656569 | USH2A | c.10845_10851del (p.Ser3616AlafsTer?) | ClinVar dbSNP |
| 1 | g.215779932T>A | CA344833777 | USH2A | c.10850A>T (p.Asn3617Ile) | |
| 1 | g.215779932T>C | CA344833782 | USH2A | c.10850A>G (p.Asn3617Ser) | |
| 1 | g.215779932T>G | CA344833785 | USH2A | c.10850A>C (p.Asn3617Thr) | |
| 1 | g.215779933T>A | CA344833793 | USH2A | c.10849A>T (p.Asn3617Tyr) | |
| 1 | g.215779933T>C | CA1393907 | USH2A | c.10849A>G (p.Asn3617Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215779933T>G | CA344833789 | USH2A | c.10849A>C (p.Asn3617His) | |
| 1 | g.215779933T= | CA1220414584 | USH2A | c.10849A= (p.Asn3617=) | |
| 1 | g.215779934T>A | CA423312964 | USH2A | c.10848A>T (p.Ser3616=) | |
| 1 | g.215779934T>C | CA423312965 | USH2A | c.10848A>G (p.Ser3616=) | |
| 1 | g.215779934T>G | CA423312967 | USH2A | c.10848A>C (p.Ser3616=) | |
| 1 | g.215779935G>A | CA1393908 | USH2A | c.10847C>T (p.Ser3616Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215779935G>C | CA344833805 | USH2A | c.10847C>G (p.Ser3616Ter) | |
| 1 | g.215779935G= | CA1220414587 | USH2A | c.10847C= (p.Ser3616=) | |
| 1 | g.215779935G>T | CA344833811 | USH2A | c.10847C>A (p.Ser3616Ter) | |
| 1 | g.215779936A>C | CA344833813 | USH2A | c.10846T>G (p.Ser3616Ala) | COSMIC |
| 1 | g.215779936A>G | CA344833822 | USH2A | c.10846T>C (p.Ser3616Pro) | dbSNP |
| 1 | g.215779936A>T | CA344833825 | USH2A | c.10846T>A (p.Ser3616Thr) | |
| 1 | g.215779936_215779940del | CA913072778 | USH2A | c.10842_10846del (p.Glu3614AspfsTer6) | |
| 1 | g.215779936_215779940delinsATTTC | CA1220414592 | USH2A | c.10842_10846delinsGAAAT (p.Glu3614=) | |
| 1 | g.215779937T>A | CA344833829 | USH2A | c.10845A>T (p.Lys3615Asn) | |
| 1 | g.215779937T>C | CA423312969 | USH2A | c.10845A>G (p.Lys3615=) | gnomAD v4 |
| 1 | g.215779937T>G | CA344833832 | USH2A | c.10845A>C (p.Lys3615Asn) | |
| 1 | g.215779938_215779941del | CA658821745 | USH2A | c.10842_10845del (p.Glu3614AspfsTer?) | ClinVar dbSNP |
| 1 | g.215779938T>A | CA344833835 | USH2A | c.10844A>T (p.Lys3615Ile) | |
| 1 | g.215779938T>C | CA344833838 | USH2A | c.10844A>G (p.Lys3615Arg) | |
| 1 | g.215779938T>G | CA344833842 | USH2A | c.10844A>C (p.Lys3615Thr) | |
| 1 | g.215779939T>A | CA344833847 | USH2A | c.10843A>T (p.Lys3615Ter) | ClinVar |
| 1 | g.215779939T>C | CA1393909 | USH2A | c.10843A>G (p.Lys3615Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215779939T>G | CA344833851 | USH2A | c.10843A>C (p.Lys3615Gln) | |
| 1 | g.215779939T= | CA1220414596 | USH2A | c.10843A= (p.Lys3615=) | |
| 1 | g.215779940C>A | CA344833859 | USH2A | c.10842G>T (p.Glu3614Asp) | ClinVar |
| 1 | g.215779940C>G | CA344833857 | USH2A | c.10842G>C (p.Glu3614Asp) | |
| 1 | g.215779940C>T | CA423312973 | USH2A | c.10842G>A (p.Glu3614=) | |
| 1 | g.215779941T>A | CA344833865 | USH2A | c.10841A>T (p.Glu3614Val) | |
| 1 | g.215779941T>C | CA344833872 | USH2A | c.10841A>G (p.Glu3614Gly) | |
| 1 | g.215779941T>G | CA344833867 | USH2A | c.10841A>C (p.Glu3614Ala) | |
| 1 | g.215779941_215779942insTTTG | CA2544293601 | USH2A | c.10840_10841insCAAA (p.Glu3614AlafsTer9) | |
| 1 | g.215779942C>A | CA344833876 | USH2A | c.10840G>T (p.Glu3614Ter) | |
| 1 | g.215779942C>G | CA344833881 | USH2A | c.10840G>C (p.Glu3614Gln) | |
| 1 | g.215779942C>T | CA344833879 | USH2A | c.10840G>A (p.Glu3614Lys) | gnomAD v4 |
| 1 | g.215779943A= | CA1220414604 | USH2A | c.10839T= (p.Pro3613=) | |
| 1 | g.215779943A>C | CA423312976 | USH2A | c.10839T>G (p.Pro3613=) | |
| 1 | g.215779943A>G | CA37435785 | USH2A | c.10839T>C (p.Pro3613=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215779943A>T | CA423312977 | USH2A | c.10839T>A (p.Pro3613=) | COSMIC |
| 1 | g.215779944G>A | CA344833886 | USH2A | c.10838C>T (p.Pro3613Leu) | |
| 1 | g.215779944G>C | CA344833891 | USH2A | c.10838C>G (p.Pro3613Arg) | |
| 1 | g.215779944G= | CA1220414609 | USH2A | c.10838C= (p.Pro3613=) | |
| 1 | g.215779944G>T | CA344833895 | USH2A | c.10838C>A (p.Pro3613His) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215779945G>A | CA344833899 | USH2A | c.10837C>T (p.Pro3613Ser) | |
| 1 | g.215779945G>C | CA344833904 | USH2A | c.10837C>G (p.Pro3613Ala) | |
| 1 | g.215779945G= | CA1220414611 | USH2A | c.10837C= (p.Pro3613=) | |
| 1 | g.215779945G>T | CA344833914 | USH2A | c.10837C>A (p.Pro3613Thr) | dbSNP gnomAD v4 |
| 1 | g.215779946G>A | CA423312978 | USH2A | c.10836C>T (p.Val3612=) | |
| 1 | g.215779946G>C | CA423312979 | USH2A | c.10836C>G (p.Val3612=) | |
| 1 | g.215779946G= | CA1140717723 | USH2A | c.10836C= (p.Val3612=) | |
| 1 | g.215779946G>T | CA143233 | USH2A | c.10836C>A (p.Val3612=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215779947A>C | CA344833922 | USH2A | c.10835T>G (p.Val3612Gly) | |
| 1 | g.215779947A>G | CA344833931 | USH2A | c.10835T>C (p.Val3612Ala) | |
| 1 | g.215779947A>T | CA344833933 | USH2A | c.10835T>A (p.Val3612Asp) | |
| 1 | g.215779948C>A | CA344833947 | USH2A | c.10834G>T (p.Val3612Phe) | |
| 1 | g.215779948C= | CA1220414616 | USH2A | c.10834G= (p.Val3612=) | |
| 1 | g.215779948C>G | CA344833944 | USH2A | c.10834G>C (p.Val3612Leu) | |
| 1 | g.215779948C>T | CA1393910 | USH2A | c.10834G>A (p.Val3612Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215779949A>C | CA344833952 | USH2A | c.10833T>G (p.Ser3611Arg) | |
| 1 | g.215779949A>G | CA423312980 | USH2A | c.10833T>C (p.Ser3611=) | ClinVar dbSNP |
| 1 | g.215779949A>T | CA344833955 | USH2A | c.10833T>A (p.Ser3611Arg) | gnomAD v4 |
| 1 | g.215779950C>A | CA344833958 | USH2A | c.10832G>T (p.Ser3611Ile) | |
| 1 | g.215779950C>G | CA344833962 | USH2A | c.10832G>C (p.Ser3611Thr) | |
| 1 | g.215779950C>T | CA344833965 | USH2A | c.10832G>A (p.Ser3611Asn) | |
| 1 | g.215779951T>A | CA344833969 | USH2A | c.10831A>T (p.Ser3611Cys) | |
| 1 | g.215779951T>C | CA344833971 | USH2A | c.10831A>G (p.Ser3611Gly) | |
| 1 | g.215779951T>G | CA344833974 | USH2A | c.10831A>C (p.Ser3611Arg) |