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.215782009C= | CA1220416580 | USH2A | c.10740+33G= (n.10740+33G=) | |
| 1 | g.215782009C>G | CA528711584 | USH2A | c.10740+33G>C (n.10740+33G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782010C= | CA1220416583 | USH2A | c.10740+32G= (n.10740+32G=) | |
| 1 | g.215782010C>T | CA2650527084 | USH2A | c.10740+32G>A (n.10740+32G>A) | gnomAD v4 |
| 1 | g.215782011T>C | CA731338384 | USH2A | c.10740+31A>G (n.10740+31A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215782011T= | CA1220416586 | USH2A | c.10740+31A= (n.10740+31A=) | |
| 1 | g.215782014dup | CA1393946 | USH2A | c.10740+31dup (n.10740+31dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782014del | CA2574133023 | USH2A | c.10740+31del (n.10740+31del) | |
| 1 | g.215782013T>G | CA731338386 | USH2A | c.10740+29A>C (n.10740+29A>C) | dbSNP gnomAD v4 |
| 1 | g.215782013T= | CA1220416588 | USH2A | c.10740+29A= (n.10740+29A=) | |
| 1 | g.215782015C>A | CA731338394 | USH2A | c.10740+27G>T (n.10740+27G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215782015C= | CA1220416591 | USH2A | c.10740+27G= (n.10740+27G=) | |
| 1 | g.215782016C>A | CA2650527085 | USH2A | c.10740+26G>T (n.10740+26G>T) | gnomAD v4 |
| 1 | g.215782019G>C | CA1393947 | USH2A | c.10740+23C>G (n.10740+23C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782019G= | CA1220416594 | USH2A | c.10740+23C= (n.10740+23C=) | |
| 1 | g.215782020A>G | CA2650527086 | USH2A | c.10740+22T>C (n.10740+22T>C) | gnomAD v4 |
| 1 | g.215782021G>A | CA528711588 | USH2A | c.10740+21C>T (n.10740+21C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215782021G= | CA1220416597 | USH2A | c.10740+21C= (n.10740+21C=) | |
| 1 | g.215782021G>T | CA2650527087 | USH2A | c.10740+21C>A (n.10740+21C>A) | gnomAD v4 |
| 1 | g.215782022T>G | CA2650527088 | USH2A | c.10740+20A>C (n.10740+20A>C) | gnomAD v4 |
| 1 | g.215782023_215782024dup | CA1220416602 | USH2A | c.10740+19_10740+20dup (n.10740+19_10740+20dup) | dbSNP gnomAD v4 |
| 1 | g.215782023T>G | CA2650527089 | USH2A | c.10740+19A>C (n.10740+19A>C) | gnomAD v4 |
| 1 | g.215782024T>C | CA37437268 | USH2A | c.10740+18A>G (n.10740+18A>G) | dbSNP |
| 1 | g.215782024T>G | CA2528175401 | USH2A | c.10740+18A>C (n.10740+18A>C) | gnomAD v4 |
| 1 | g.215782024T= | CA1220416604 | USH2A | c.10740+18A= (n.10740+18A=) | |
| 1 | g.215782025A= | CA1220416609 | USH2A | c.10740+17T= (n.10740+17T=) | |
| 1 | g.215782025A>T | CA1393948 | USH2A | c.10740+17T>A (n.10740+17T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215782030A= | CA1220416614 | USH2A | c.10740+12T= (n.10740+12T=) | |
| 1 | g.215782030A>C | CA731338401 | USH2A | c.10740+12T>G (n.10740+12T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215782030A>G | CA37437273 | USH2A | c.10740+12T>C (n.10740+12T>C) | dbSNP |
| 1 | g.215782031A>G | CA2650527090 | USH2A | c.10740+11T>C (n.10740+11T>C) | gnomAD v4 |
| 1 | g.215782032C= | CA1220416621 | USH2A | c.10740+10G= (n.10740+10G=) | |
| 1 | g.215782032C>T | CA528711589 | USH2A | c.10740+10G>A (n.10740+10G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215782034_215782043del | CA2586968160 | USH2A | c.10740+1_10740+10del | |
| 1 | g.215782033T>C | CA731338405 | USH2A | c.10740+9A>G (n.10740+9A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215782033T>G | CA2573131574 | USH2A | c.10740+9A>C (n.10740+9A>C) | ClinVar dbSNP |
| 1 | g.215782033T= | CA1220416624 | USH2A | c.10740+9A= (n.10740+9A=) | |
| 1 | g.215782034C>A | CA645522758 | USH2A | c.10740+8G>T (n.10740+8G>T) | COSMIC COSMIC |
| 1 | g.215782035C= | CA1143467237 | USH2A | c.10740+7G= (n.10740+7G=) | |
| 1 | g.215782035C>G | CA179521 | USH2A | c.10740+7G>C (n.10740+7G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782035C>T | CA1393949 | USH2A | c.10740+7G>A (n.10740+7G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782037C>T | CA2573131575 | USH2A | c.10740+5G>A (n.10740+5G>A) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215782038_215782041dup | CA2650527091 | USH2A | c.10740+2_10740+5dup (n.10740+2_10740+5dup) | gnomAD v4 |
| 1 | g.215782038T>C | CA528711592 | USH2A | c.10740+4A>G (n.10740+4A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215782038T= | CA1220416637 | USH2A | c.10740+4A= (n.10740+4A=) | |
| 1 | g.215782039T>C | CA1393950 | USH2A | c.10740+3A>G (n.10740+3A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215782039T= | CA1220416638 | USH2A | c.10740+3A= (n.10740+3A=) | |
| 1 | g.215782040A>C | CA344835974 | USH2A | c.10740+2T>G (n.10740+2T>G) | |
| 1 | g.215782040A>G | CA344835980 | USH2A | c.10740+2T>C (n.10740+2T>C) | |
| 1 | g.215782040A>T | CA344835977 | USH2A | c.10740+2T>A (n.10740+2T>A) | |
| 1 | g.215782041C>A | CA344835988 | USH2A | c.10740+1G>T (n.10740+1G>T) | |
| 1 | g.215782041C>G | CA344835991 | USH2A | c.10740+1G>C (n.10740+1G>C) | |
| 1 | g.215782041C>T | CA344835993 | USH2A | c.10740+1G>A (n.10740+1G>A) | |
| 1 | g.215782042C>A | CA344835996 | USH2A | c.10740G>T (p.Lys3580Asn) | |
| 1 | g.215782042C= | CA1143668936 | USH2A | c.10740G= (p.Lys3580=) | |
| 1 | g.215782042C>G | CA37437277 | USH2A | c.10740G>C (p.Lys3580Asn) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215782042C>T | CA423313174 | USH2A | c.10740G>A (p.Lys3580=) | |
| 1 | g.215782043T>A | CA344836004 | USH2A | c.10739A>T (p.Lys3580Met) | |
| 1 | g.215782043T>C | CA344836008 | USH2A | c.10739A>G (p.Lys3580Arg) | |
| 1 | g.215782043T>G | CA344836010 | USH2A | c.10739A>C (p.Lys3580Thr) | |
| 1 | g.215782044T>A | CA344836014 | USH2A | c.10738A>T (p.Lys3580Ter) | |
| 1 | g.215782044T>C | CA344836018 | USH2A | c.10738A>G (p.Lys3580Glu) | |
| 1 | g.215782044T>G | CA344836021 | USH2A | c.10738A>C (p.Lys3580Gln) | |
| 1 | g.215782045G>A | CA423313176 | USH2A | c.10737C>T (p.Ser3579=) | |
| 1 | g.215782045G>C | CA344836026 | USH2A | c.10737C>G (p.Ser3579Arg) | |
| 1 | g.215782045G>T | CA344836028 | USH2A | c.10737C>A (p.Ser3579Arg) | |
| 1 | g.215782046C>A | CA344836052 | USH2A | c.10736G>T (p.Ser3579Ile) | |
| 1 | g.215782046C>G | CA344836033 | USH2A | c.10736G>C (p.Ser3579Thr) | |
| 1 | g.215782046C>T | CA344836041 | USH2A | c.10736G>A (p.Ser3579Asn) | gnomAD v4 |
| 1 | g.215782047T>A | CA344836056 | USH2A | c.10735A>T (p.Ser3579Cys) | |
| 1 | g.215782047T>C | CA344836067 | USH2A | c.10735A>G (p.Ser3579Gly) | dbSNP gnomAD v4 |
| 1 | g.215782047T>G | CA344836070 | USH2A | c.10735A>C (p.Ser3579Arg) | |
| 1 | g.215782047T= | CA1220416639 | USH2A | c.10735A= (p.Ser3579=) | |
| 1 | g.215782048A= | CA1220416640 | USH2A | c.10734T= (p.Ser3578=) | |
| 1 | g.215782048A>C | CA344836074 | USH2A | c.10734T>G (p.Ser3578Arg) | |
| 1 | g.215782048A>G | CA423313180 | USH2A | c.10734T>C (p.Ser3578=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215782048A>T | CA344836076 | USH2A | c.10734T>A (p.Ser3578Arg) | gnomAD v4 |
| 1 | g.215782049C>A | CA344836080 | USH2A | c.10733G>T (p.Ser3578Ile) | |
| 1 | g.215782049C= | CA1220416641 | USH2A | c.10733G= (p.Ser3578=) | |
| 1 | g.215782049C>G | CA344836081 | USH2A | c.10733G>C (p.Ser3578Thr) | |
| 1 | g.215782049C>T | CA344836082 | USH2A | c.10733G>A (p.Ser3578Asn) | ClinVar dbSNP |
| 1 | g.215782050T>A | CA344836085 | USH2A | c.10732A>T (p.Ser3578Cys) | |
| 1 | g.215782050T>C | CA344836093 | USH2A | c.10732A>G (p.Ser3578Gly) | |
| 1 | g.215782050T>G | CA344836097 | USH2A | c.10732A>C (p.Ser3578Arg) | gnomAD v4 |
| 1 | g.215782051G>A | CA37437280 | USH2A | c.10731C>T (p.Thr3577=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215782051G>C | CA423313181 | USH2A | c.10731C>G (p.Thr3577=) | |
| 1 | g.215782051G= | CA1220416642 | USH2A | c.10731C= (p.Thr3577=) | |
| 1 | g.215782051G>T | CA423313182 | USH2A | c.10731C>A (p.Thr3577=) | |
| 1 | g.215782052G>A | CA344836111 | USH2A | c.10730C>T (p.Thr3577Ile) | COSMIC COSMIC |
| 1 | g.215782052G>C | CA344836114 | USH2A | c.10730C>G (p.Thr3577Ser) | |
| 1 | g.215782052G>T | CA344836113 | USH2A | c.10730C>A (p.Thr3577Asn) | |
| 1 | g.215782053T>A | CA344836117 | USH2A | c.10729A>T (p.Thr3577Ser) | |
| 1 | g.215782053T>C | CA344836123 | USH2A | c.10729A>G (p.Thr3577Ala) | dbSNP gnomAD v4 |
| 1 | g.215782053T>G | CA344836119 | USH2A | c.10729A>C (p.Thr3577Pro) | |
| 1 | g.215782053T= | CA1220416643 | USH2A | c.10729A= (p.Thr3577=) | |
| 1 | g.215782054G>A | CA423313183 | USH2A | c.10728C>T (p.Ala3576=) | |
| 1 | g.215782054G>C | CA423313184 | USH2A | c.10728C>G (p.Ala3576=) | |
| 1 | g.215782054G>T | CA423313185 | USH2A | c.10728C>A (p.Ala3576=) | COSMIC COSMIC |
| 1 | g.215782055G>A | CA344836126 | USH2A | c.10727C>T (p.Ala3576Val) | |
| 1 | g.215782055G>C | CA344836134 | USH2A | c.10727C>G (p.Ala3576Gly) | |
| 1 | g.215782055G>T | CA344836138 | USH2A | c.10727C>A (p.Ala3576Asp) | |
| 1 | g.215782056C>A | CA344836141 | USH2A | c.10726G>T (p.Ala3576Ser) | |
| 1 | g.215782056C>G | CA344836142 | USH2A | c.10726G>C (p.Ala3576Pro) | |
| 1 | g.215782056C>T | CA344836143 | USH2A | c.10726G>A (p.Ala3576Thr) | |
| 1 | g.215782057A>C | CA344836148 | USH2A | c.10725T>G (p.Cys3575Trp) | |
| 1 | g.215782057A>G | CA423313187 | USH2A | c.10725T>C (p.Cys3575=) | |
| 1 | g.215782057A>T | CA344836152 | USH2A | c.10725T>A (p.Cys3575Ter) | |
| 1 | g.215782058C>A | CA344836159 | USH2A | c.10724G>T (p.Cys3575Phe) | ClinVar |
| 1 | g.215782058C= | CA1141189275 | USH2A | c.10724G= (p.Cys3575=) | |
| 1 | g.215782058C>G | CA344836162 | USH2A | c.10724G>C (p.Cys3575Ser) | ClinVar dbSNP |
| 1 | g.215782058C>T | CA262062 | USH2A | c.10724G>A (p.Cys3575Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215782059A>C | CA344836174 | USH2A | c.10723T>G (p.Cys3575Gly) | |
| 1 | g.215782059A>G | CA344836168 | USH2A | c.10723T>C (p.Cys3575Arg) | |
| 1 | g.215782059A>T | CA344836165 | USH2A | c.10723T>A (p.Cys3575Ser) | |
| 1 | g.215782060G>A | CA423313190 | USH2A | c.10722C>T (p.Gly3574=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782060G>C | CA423313191 | USH2A | c.10722C>G (p.Gly3574=) | |
| 1 | g.215782060G= | CA1220416651 | USH2A | c.10722C= (p.Gly3574=) | |
| 1 | g.215782060G>T | CA423313192 | USH2A | c.10722C>A (p.Gly3574=) | |
| 1 | g.215782061C>A | CA344836178 | USH2A | c.10721G>T (p.Gly3574Val) | ClinVar dbSNP |
| 1 | g.215782061C= | CA1220416656 | USH2A | c.10721G= (p.Gly3574=) | |
| 1 | g.215782061C>G | CA344836180 | USH2A | c.10721G>C (p.Gly3574Ala) | |
| 1 | g.215782061C>T | CA344836183 | USH2A | c.10721G>A (p.Gly3574Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215782061_215782062delinsAA | CA1220416660 | USH2A | c.10720_10721delinsTT (p.Gly3574Phe) | ClinVar dbSNP |
| 1 | g.215782061_215782062delinsCC | CA1220416658 | USH2A | c.10720_10721delinsGG (p.Gly3574=) | |
| 1 | g.215782062C>A | CA344836187 | USH2A | c.10720G>T (p.Gly3574Cys) | |
| 1 | g.215782062C>G | CA344836190 | USH2A | c.10720G>C (p.Gly3574Arg) | |
| 1 | g.215782062C>T | CA344836193 | USH2A | c.10720G>A (p.Gly3574Ser) | gnomAD v4 |
| 1 | g.215782063A>C | CA423313196 | USH2A | c.10719T>G (p.Ala3573=) | gnomAD v4 |
| 1 | g.215782063A>G | CA423313198 | USH2A | c.10719T>C (p.Ala3573=) | |
| 1 | g.215782063A>T | CA423313197 | USH2A | c.10719T>A (p.Ala3573=) | |
| 1 | g.215782064G>A | CA344836198 | USH2A | c.10718C>T (p.Ala3573Val) | gnomAD v4 |
| 1 | g.215782064G>C | CA344836199 | USH2A | c.10718C>G (p.Ala3573Gly) | |
| 1 | g.215782064G>T | CA344836203 | USH2A | c.10718C>A (p.Ala3573Asp) | |
| 1 | g.215782065C>A | CA1393952 | USH2A | c.10717G>T (p.Ala3573Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782065C= | CA1143387194 | USH2A | c.10717G= (p.Ala3573=) | |
| 1 | g.215782065C>G | CA1393951 | USH2A | c.10717G>C (p.Ala3573Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782065C>T | CA344836206 | USH2A | c.10717G>A (p.Ala3573Thr) | |
| 1 | g.215782066A>C | CA423313200 | USH2A | c.10716T>G (p.Val3572=) | |
| 1 | g.215782066A>G | CA423313201 | USH2A | c.10716T>C (p.Val3572=) | |
| 1 | g.215782066A>T | CA423313202 | USH2A | c.10716T>A (p.Val3572=) | |
| 1 | g.215782067A>C | CA344836216 | USH2A | c.10715T>G (p.Val3572Gly) | |
| 1 | g.215782067A>G | CA344836211 | USH2A | c.10715T>C (p.Val3572Ala) | gnomAD v4 |
| 1 | g.215782067A>T | CA344836209 | USH2A | c.10715T>A (p.Val3572Asp) | |
| 1 | g.215782068C>A | CA344836232 | USH2A | c.10714G>T (p.Val3572Phe) | |
| 1 | g.215782068C>G | CA344836220 | USH2A | c.10714G>C (p.Val3572Leu) | |
| 1 | g.215782068C>T | CA344836229 | USH2A | c.10714G>A (p.Val3572Ile) | |
| 1 | g.215782069del | CA2739275685 | USH2A | c.10714del (p.Val3572LeufsTer10) | ClinVar |
| 1 | g.215782069C>A | CA423313203 | USH2A | c.10713G>T (p.Thr3571=) | ClinVar |
| 1 | g.215782069C= | CA1220416666 | USH2A | c.10713G= (p.Thr3571=) | |
| 1 | g.215782069C>G | CA423313204 | USH2A | c.10713G>C (p.Thr3571=) | |
| 1 | g.215782069C>T | CA1393953 | USH2A | c.10713G>A (p.Thr3571=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215782070G>A | CA262060 | USH2A | c.10712C>T (p.Thr3571Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782070G>C | CA344836239 | USH2A | c.10712C>G (p.Thr3571Arg) | |
| 1 | g.215782070G= | CA1143531689 | USH2A | c.10712C= (p.Thr3571=) | |
| 1 | g.215782070G>T | CA344836242 | USH2A | c.10712C>A (p.Thr3571Lys) | gnomAD v4 |
| 1 | g.215782071T>A | CA344836253 | USH2A | c.10711A>T (p.Thr3571Ser) | |
| 1 | g.215782071T>C | CA1393954 | USH2A | c.10711A>G (p.Thr3571Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215782071T>G | CA344836251 | USH2A | c.10711A>C (p.Thr3571Pro) | |
| 1 | g.215782071T= | CA1220416674 | USH2A | c.10711A= (p.Thr3571=) | |
| 1 | g.215782072G>A | CA423313205 | USH2A | c.10710C>T (p.Cys3570=) | |
| 1 | g.215782072G>C | CA344836258 | USH2A | c.10710C>G (p.Cys3570Trp) | |
| 1 | g.215782072G>T | CA344836260 | USH2A | c.10710C>A (p.Cys3570Ter) | |
| 1 | g.215782073C>A | CA344836263 | USH2A | c.10709G>T (p.Cys3570Phe) | ClinVar |
| 1 | g.215782073C>G | CA344836264 | USH2A | c.10709G>C (p.Cys3570Ser) | |
| 1 | g.215782073C>T | CA344836265 | USH2A | c.10709G>A (p.Cys3570Tyr) | gnomAD v4 |
| 1 | g.215782073_215782074insCACCCAGGCGT | CA2747720970 | USH2A | c.10708_10709insACGCCTGGGTG (p.Cys3570TyrfsTer16) | |
| 1 | g.215782074A>C | CA344836267 | USH2A | c.10708T>G (p.Cys3570Gly) | |
| 1 | g.215782074A>G | CA344836274 | USH2A | c.10708T>C (p.Cys3570Arg) | |
| 1 | g.215782074A>T | CA344836270 | USH2A | c.10708T>A (p.Cys3570Ser) | |
| 1 | g.215782075A>C | CA423313207 | USH2A | c.10707T>G (p.Ala3569=) | |
| 1 | g.215782075A>G | CA423313208 | USH2A | c.10707T>C (p.Ala3569=) | gnomAD v4 |
| 1 | g.215782075A>T | CA423313210 | USH2A | c.10707T>A (p.Ala3569=) | |
| 1 | g.215782075_215782076insCTCTCGTGCATCCTCACGCCCAGTAATGCCCACACGTTTACCAATTGACGAACCACCATCCAGCCCTAGTCGCGGTAAGCGTCGCTG | CA2747720971 | USH2A | c.10706_10707insCAGCGACGCTTACCGCGACTAGGGCTGGATGGTGGTTCGTCAATTGGTAAACGTGTGGGCATTACTGGGCGTGAGGATGCACGAGAG (p.Ala3570SerfsTer7) | |
| 1 | g.215782076G>A | CA344836278 | USH2A | c.10706C>T (p.Ala3569Val) | |
| 1 | g.215782076G>C | CA344836281 | USH2A | c.10706C>G (p.Ala3569Gly) | |
| 1 | g.215782076G>T | CA344836283 | USH2A | c.10706C>A (p.Ala3569Asp) | |
| 1 | g.215782077C>A | CA344836285 | USH2A | c.10705G>T (p.Ala3569Ser) | gnomAD v4 |
| 1 | g.215782077C= | CA1220416678 | USH2A | c.10705G= (p.Ala3569=) | |
| 1 | g.215782077C>G | CA1393955 | USH2A | c.10705G>C (p.Ala3569Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215782077C>T | CA344836287 | USH2A | c.10705G>A (p.Ala3569Thr) | |
| 1 | g.215782078T>A | CA344836288 | USH2A | c.10704A>T (p.Lys3568Asn) | |
| 1 | g.215782078T>C | CA423313211 | USH2A | c.10704A>G (p.Lys3568=) | |
| 1 | g.215782078T>G | CA344836289 | USH2A | c.10704A>C (p.Lys3568Asn) | |
| 1 | g.215782079T>A | CA344836294 | USH2A | c.10703A>T (p.Lys3568Ile) | |
| 1 | g.215782079T>C | CA344836297 | USH2A | c.10703A>G (p.Lys3568Arg) | |
| 1 | g.215782079T>G | CA344836298 | USH2A | c.10703A>C (p.Lys3568Thr) | |
| 1 | g.215782080T>A | CA37437327 | USH2A | c.10702A>T (p.Lys3568Ter) | ClinVar dbSNP |
| 1 | g.215782080T>C | CA344836300 | USH2A | c.10702A>G (p.Lys3568Glu) | |
| 1 | g.215782080T>G | CA344836299 | USH2A | c.10702A>C (p.Lys3568Gln) | |
| 1 | g.215782080T= | CA1220416681 | USH2A | c.10702A= (p.Lys3568=) | |
| 1 | g.215782081C>A | CA423313213 | USH2A | c.10701G>T (p.Leu3567=) | |
| 1 | g.215782081C>G | CA423313214 | USH2A | c.10701G>C (p.Leu3567=) | |
| 1 | g.215782081C>T | CA423313215 | USH2A | c.10701G>A (p.Leu3567=) | ClinVar |
| 1 | g.215782082A>C | CA344836305 | USH2A | c.10700T>G (p.Leu3567Arg) | |
| 1 | g.215782082A>G | CA344836307 | USH2A | c.10700T>C (p.Leu3567Pro) | |
| 1 | g.215782082A>T | CA344836310 | USH2A | c.10700T>A (p.Leu3567Gln) | |
| 1 | g.215782082_215782083delinsAG | CA1220416684 | USH2A | c.10699_10700delinsCT (p.Leu3567=) | |
| 1 | g.215782083del | CA916082115 | USH2A | c.10699del (p.Leu3567Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215782083G>A | CA423313217 | USH2A | c.10699C>T (p.Leu3567=) | |
| 1 | g.215782083G>C | CA344836312 | USH2A | c.10699C>G (p.Leu3567Val) | |
| 1 | g.215782083G>T | CA344836315 | USH2A | c.10699C>A (p.Leu3567Met) | |
| 1 | g.215782084C>A | CA344836318 | USH2A | c.10698G>T (p.Gln3566His) | |
| 1 | g.215782084C>G | CA344836319 | USH2A | c.10698G>C (p.Gln3566His) | |
| 1 | g.215782084C>T | CA423313219 | USH2A | c.10698G>A (p.Gln3566=) | |
| 1 | g.215782085T>A | CA344836327 | USH2A | c.10697A>T (p.Gln3566Leu) | |
| 1 | g.215782085T>C | CA344836321 | USH2A | c.10697A>G (p.Gln3566Arg) | |
| 1 | g.215782085T>G | CA344836325 | USH2A | c.10697A>C (p.Gln3566Pro) | |
| 1 | g.215782086G>A | CA344836335 | USH2A | c.10696C>T (p.Gln3566Ter) | COSMIC COSMIC |
| 1 | g.215782086G>C | CA344836344 | USH2A | c.10696C>G (p.Gln3566Glu) | |
| 1 | g.215782086G>T | CA344836349 | USH2A | c.10696C>A (p.Gln3566Lys) | |
| 1 | g.215782087A>C | CA344836352 | USH2A | c.10695T>G (p.Tyr3565Ter) | |
| 1 | g.215782087A>G | CA423313221 | USH2A | c.10695T>C (p.Tyr3565=) | |
| 1 | g.215782087A>T | CA344836354 | USH2A | c.10695T>A (p.Tyr3565Ter) | |
| 1 | g.215782088T>A | CA344836358 | USH2A | c.10694A>T (p.Tyr3565Phe) | |
| 1 | g.215782088T>C | CA344836365 | USH2A | c.10694A>G (p.Tyr3565Cys) | gnomAD v4 |
| 1 | g.215782088T>G | CA344836361 | USH2A | c.10694A>C (p.Tyr3565Ser) | |
| 1 | g.215782089A= | CA1220416691 | USH2A | c.10693T= (p.Tyr3565=) | |
| 1 | g.215782089A>C | CA344836369 | USH2A | c.10693T>G (p.Tyr3565Asp) | |
| 1 | g.215782089A>G | CA344836370 | USH2A | c.10693T>C (p.Tyr3565His) | ClinVar dbSNP |
| 1 | g.215782089A>T | CA344836372 | USH2A | c.10693T>A (p.Tyr3565Asn) | |
| 1 | g.215782091_215782094dup | CA2573131578 | USH2A | c.10690_10693dup (p.Tyr3565PhefsTer16) | ClinVar dbSNP |
| 1 | g.215782090T>A | CA423313225 | USH2A | c.10692A>T (p.Ser3564=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215782090T>C | CA423313226 | USH2A | c.10692A>G (p.Ser3564=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215782090T>G | CA423313227 | USH2A | c.10692A>C (p.Ser3564=) | |
| 1 | g.215782090T= | CA1220416695 | USH2A | c.10692A= (p.Ser3564=) | |
| 1 | g.215782091G>A | CA344836376 | USH2A | c.10691C>T (p.Ser3564Leu) | |
| 1 | g.215782091G>C | CA344836380 | USH2A | c.10691C>G (p.Ser3564Ter) | ClinVar |
| 1 | g.215782091G>T | CA344836387 | USH2A | c.10691C>A (p.Ser3564Ter) | |
| 1 | g.215782092A>C | CA344836391 | USH2A | c.10690T>G (p.Ser3564Ala) | |
| 1 | g.215782092A>G | CA344836394 | USH2A | c.10690T>C (p.Ser3564Pro) | gnomAD v4 |
| 1 | g.215782092A>T | CA344836397 | USH2A | c.10690T>A (p.Ser3564Thr) | |
| 1 | g.215782093A>C | CA344836400 | USH2A | c.10689T>G (p.Tyr3563Ter) | |
| 1 | g.215782093A>G | CA423313229 | USH2A | c.10689T>C (p.Tyr3563=) | ClinVar |
| 1 | g.215782093A>T | CA344836404 | USH2A | c.10689T>A (p.Tyr3563Ter) | ClinVar |
| 1 | g.215782094T>A | CA344836409 | USH2A | c.10688A>T (p.Tyr3563Phe) | |
| 1 | g.215782094T>C | CA344836415 | USH2A | c.10688A>G (p.Tyr3563Cys) | |
| 1 | g.215782094T>G | CA344836412 | USH2A | c.10688A>C (p.Tyr3563Ser) | |
| 1 | g.215782095A= | CA1220416698 | USH2A | c.10687T= (p.Tyr3563=) | |
| 1 | g.215782095A>C | CA344836420 | USH2A | c.10687T>G (p.Tyr3563Asp) | |
| 1 | g.215782095A>G | CA1393956 | USH2A | c.10687T>C (p.Tyr3563His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782095A>T | CA344836425 | USH2A | c.10687T>A (p.Tyr3563Asn) | |
| 1 | g.215782096T>A | CA344836432 | USH2A | c.10686A>T (p.Glu3562Asp) | |
| 1 | g.215782096T>C | CA1393957 | USH2A | c.10686A>G (p.Glu3562=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215782096T>G | CA344836444 | USH2A | c.10686A>C (p.Glu3562Asp) | |
| 1 | g.215782096T= | CA1220416701 | USH2A | c.10686A= (p.Glu3562=) | |
| 1 | g.215782097T>A | CA344836451 | USH2A | c.10685A>T (p.Glu3562Val) | |
| 1 | g.215782097T>C | CA344836454 | USH2A | c.10685A>G (p.Glu3562Gly) | |
| 1 | g.215782097T>G | CA344836460 | USH2A | c.10685A>C (p.Glu3562Ala) | |
| 1 | g.215782098C>A | CA1393958 | USH2A | c.10684G>T (p.Glu3562Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215782098C= | CA1149138083 | USH2A | c.10684G= (p.Glu3562=) | |
| 1 | g.215782098C>G | CA344836467 | USH2A | c.10684G>C (p.Glu3562Gln) | |
| 1 | g.215782098C>T | CA344836470 | USH2A | c.10684G>A (p.Glu3562Lys) | |
| 1 | g.215782099C>A | CA344836478 | USH2A | c.10683G>T (p.Gln3561His) | |
| 1 | g.215782099C= | CA1220416708 | USH2A | c.10683G= (p.Gln3561=) | |
| 1 | g.215782099C>G | CA1393959 | USH2A | c.10683G>C (p.Gln3561His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215782099C>T | CA1393960 | USH2A | c.10683G>A (p.Gln3561=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215782100T>A | CA344836483 | USH2A | c.10682A>T (p.Gln3561Leu) | |
| 1 | g.215782100T>C | CA37437375 | USH2A | c.10682A>G (p.Gln3561Arg) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215782100T>G | CA344836489 | USH2A | c.10682A>C (p.Gln3561Pro) | |
| 1 | g.215782100T= | CA1220416717 | USH2A | c.10682A= (p.Gln3561=) | |
| 1 | g.215782101G>A | CA344836493 | USH2A | c.10681C>T (p.Gln3561Ter) | |
| 1 | g.215782101G>C | CA344836497 | USH2A | c.10681C>G (p.Gln3561Glu) | |
| 1 | g.215782101G>T | CA344836500 | USH2A | c.10681C>A (p.Gln3561Lys) | |
| 1 | g.215782102A= | CA1220416719 | USH2A | c.10680T= (p.Phe3560=) | |
| 1 | g.215782102A>C | CA344836503 | USH2A | c.10680T>G (p.Phe3560Leu) | |
| 1 | g.215782102A>G | CA423313236 | USH2A | c.10680T>C (p.Phe3560=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215782102A>T | CA344836507 | USH2A | c.10680T>A (p.Phe3560Leu) | |
| 1 | g.215782103A>C | CA344836512 | USH2A | c.10679T>G (p.Phe3560Cys) | |
| 1 | g.215782103A>G | CA344836519 | USH2A | c.10679T>C (p.Phe3560Ser) | |
| 1 | g.215782103A>T | CA344836523 | USH2A | c.10679T>A (p.Phe3560Tyr) | |
| 1 | g.215782104A= | CA1220416720 | USH2A | c.10678T= (p.Phe3560=) | |
| 1 | g.215782104A>C | CA344836529 | USH2A | c.10678T>G (p.Phe3560Val) | |
| 1 | g.215782104A>G | CA344836531 | USH2A | c.10678T>C (p.Phe3560Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215782104A>T | CA344836526 | USH2A | c.10678T>A (p.Phe3560Ile) | |
| 1 | g.215782105T>A | CA423313237 | USH2A | c.10677A>T (p.Pro3559=) | ClinVar dbSNP |
| 1 | g.215782105T>C | CA37437377 | USH2A | c.10677A>G (p.Pro3559=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215782105T>G | CA423313239 | USH2A | c.10677A>C (p.Pro3559=) | |
| 1 | g.215782105T= | CA1220416721 | USH2A | c.10677A= (p.Pro3559=) | |
| 1 | g.215782106G>A | CA344836540 | USH2A | c.10676C>T (p.Pro3559Leu) | dbSNP |
| 1 | g.215782106G>C | CA344836537 | USH2A | c.10676C>G (p.Pro3559Arg) | |
| 1 | g.215782106G= | CA1220416724 | USH2A | c.10676C= (p.Pro3559=) | |
| 1 | g.215782106G>T | CA344836543 | USH2A | c.10676C>A (p.Pro3559Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215782107G>A | CA1393961 | USH2A | c.10675C>T (p.Pro3559Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782107G>C | CA344836544 | USH2A | c.10675C>G (p.Pro3559Ala) | |
| 1 | g.215782107G= | CA1148873137 | USH2A | c.10675C= (p.Pro3559=) | |
| 1 | g.215782107G>T | CA344836546 | USH2A | c.10675C>A (p.Pro3559Thr) | |
| 1 | g.215782108T>A | CA344836550 | USH2A | c.10674A>T (p.Gln3558His) | |
| 1 | g.215782108T>C | CA1393962 | USH2A | c.10674A>G (p.Gln3558=) | ClinVar dbSNP ExAC gnomAD v2 |
| 1 | g.215782108T>G | CA344836561 | USH2A | c.10674A>C (p.Gln3558His) | gnomAD v4 |
| 1 | g.215782108T= | CA1220416730 | USH2A | c.10674A= (p.Gln3558=) | |
| 1 | g.215782109T>A | CA344836566 | USH2A | c.10673A>T (p.Gln3558Leu) | gnomAD v4 |
| 1 | g.215782109T>C | CA344836569 | USH2A | c.10673A>G (p.Gln3558Arg) | |
| 1 | g.215782109T>G | CA344836575 | USH2A | c.10673A>C (p.Gln3558Pro) |