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 |
|---|---|---|---|---|---|
| X | g.154154628C>A | CA415306172 | OPN1LW | c.633C>A (p.Ser211Arg) c.222C>A (p.Ser74Arg) n.588+1520C>A | |
| X | g.154154628C= | CA2466613677 | OPN1LW | c.633C= (p.Ser211=) c.222C= (p.Ser74=) n.588+1520C= | |
| X | g.154154628C>G | CA415306174 | OPN1LW | c.633C>G (p.Ser211Arg) c.222C>G (p.Ser74Arg) n.588+1520C>G | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154154628C>T | CA519323014 | OPN1LW | c.633C>T (p.Ser211=) c.222C>T (p.Ser74=) n.588+1520C>T | |
| X | g.154154628_154154647delinsCTCGTACCCCGGGGTGCAGT | CA2466613676 | OPN1LW | c.633_652delinsCTCGTACCCCGGGGTGCAGT (p.Ser211=) c.222_241delinsCTCGTACCCCGGGGTGCAGT (p.Ser74=) n.588+1520_588+1539delinsCTCGTACCCCGGGGTGCAGT | |
| X | g.154154629T>A | CA415306182 | OPN1LW | c.634T>A (p.Ser212Thr) c.223T>A (p.Ser75Thr) n.588+1521T>A | |
| X | g.154154629T>C | CA415306187 | OPN1LW | c.634T>C (p.Ser212Pro) c.223T>C (p.Ser75Pro) n.588+1521T>C | |
| X | g.154154629T>G | CA415306192 | OPN1LW | c.634T>G (p.Ser212Ala) c.223T>G (p.Ser75Ala) n.588+1521T>G | |
| X | g.154154629_154154647del | CA2466613678 | OPN1LW | c.634_652del (p.Ser212LeufsTer3) c.223_241del (p.Ser75LeufsTer3) n.588+1521_588+1539del | dbSNP |
| X | g.154154630C>A | CA415306197 | OPN1LW | c.635C>A (p.Ser212Ter) c.224C>A (p.Ser75Ter) n.588+1522C>A | |
| X | g.154154630C= | CA2466613679 | OPN1LW | c.635C= (p.Ser212=) c.224C= (p.Ser75=) n.588+1522C= | |
| X | g.154154630C>G | CA415306199 | OPN1LW | c.635C>G (p.Ser212Trp) c.224C>G (p.Ser75Trp) n.588+1522C>G | |
| X | g.154154630C>T | CA415306203 | OPN1LW | c.635C>T (p.Ser212Leu) c.224C>T (p.Ser75Leu) n.588+1522C>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154154631G>A | CA10558862 | OPN1LW | c.636G>A (p.Ser212=) c.225G>A (p.Ser75=) n.588+1523G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154154631G>C | CA519323020 | OPN1LW | c.636G>C (p.Ser212=) c.225G>C (p.Ser75=) n.588+1523G>C | |
| X | g.154154631G= | CA2466613680 | OPN1LW | c.636G= (p.Ser212=) c.225G= (p.Ser75=) n.588+1523G= | |
| X | g.154154631G>T | CA519323021 | OPN1LW | c.636G>T (p.Ser212=) c.225G>T (p.Ser75=) n.588+1523G>T | |
| X | g.154154632T>A | CA415306219 | OPN1LW | c.637T>A (p.Tyr213Asn) c.226T>A (p.Tyr76Asn) n.588+1524T>A | |
| X | g.154154632T>C | CA415306222 | OPN1LW | c.637T>C (p.Tyr213His) c.226T>C (p.Tyr76His) n.588+1524T>C | |
| X | g.154154632T>G | CA415306218 | OPN1LW | c.637T>G (p.Tyr213Asp) c.226T>G (p.Tyr76Asp) n.588+1524T>G | |
| X | g.154154633A>C | CA415306230 | OPN1LW | c.638A>C (p.Tyr213Ser) c.227A>C (p.Tyr76Ser) n.588+1525A>C | gnomAD v4 |
| X | g.154154633A>G | CA415306238 | OPN1LW | c.638A>G (p.Tyr213Cys) c.227A>G (p.Tyr76Cys) n.588+1525A>G | |
| X | g.154154633A>T | CA415306236 | OPN1LW | c.638A>T (p.Tyr213Phe) c.227A>T (p.Tyr76Phe) n.588+1525A>T | |
| X | g.154154634C>A | CA415306241 | OPN1LW | c.639C>A (p.Tyr213Ter) c.228C>A (p.Tyr76Ter) n.588+1526C>A | |
| X | g.154154634C= | CA2466613681 | OPN1LW | c.639C= (p.Tyr213=) c.228C= (p.Tyr76=) n.588+1526C= | |
| X | g.154154634C>G | CA415306253 | OPN1LW | c.639C>G (p.Tyr213Ter) c.228C>G (p.Tyr76Ter) n.588+1526C>G | |
| X | g.154154634C>T | CA10558863 | OPN1LW | c.639C>T (p.Tyr213=) c.228C>T (p.Tyr76=) n.588+1526C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154154635C>A | CA415306261 | OPN1LW | c.640C>A (p.Pro214Thr) c.229C>A (p.Pro77Thr) n.588+1527C>A | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154154635C= | CA2466613682 | OPN1LW | c.640C= (p.Pro214=) c.229C= (p.Pro77=) n.588+1527C= | |
| X | g.154154635C>G | CA415306270 | OPN1LW | c.640C>G (p.Pro214Ala) c.229C>G (p.Pro77Ala) n.588+1527C>G | |
| X | g.154154635C>T | CA10558864 | OPN1LW | c.640C>T (p.Pro214Ser) c.229C>T (p.Pro77Ser) n.588+1527C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154154636C>A | CA415306286 | OPN1LW | c.641C>A (p.Pro214His) c.230C>A (p.Pro77His) n.588+1528C>A | |
| X | g.154154636C>G | CA415306292 | OPN1LW | c.641C>G (p.Pro214Arg) c.230C>G (p.Pro77Arg) n.588+1528C>G | |
| X | g.154154636C>T | CA415306299 | OPN1LW | c.641C>T (p.Pro214Leu) c.230C>T (p.Pro77Leu) n.588+1528C>T | |
| X | g.154154637C>A | CA519323025 | OPN1LW | c.642C>A (p.Pro214=) c.231C>A (p.Pro77=) n.588+1529C>A | |
| X | g.154154637C= | CA2466613683 | OPN1LW | c.642C= (p.Pro214=) c.231C= (p.Pro77=) n.588+1529C= | |
| X | g.154154637C>G | CA519323026 | OPN1LW | c.642C>G (p.Pro214=) c.231C>G (p.Pro77=) n.588+1529C>G | |
| X | g.154154637C>T | CA10558865 | OPN1LW | c.642C>T (p.Pro214=) c.231C>T (p.Pro77=) n.588+1529C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.154154638G>A | CA10558866 | OPN1LW | c.643G>A (p.Gly215Arg) c.232G>A (p.Gly78Arg) n.588+1530G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.154154638G>C | CA415306322 | OPN1LW | c.643G>C (p.Gly215Arg) c.232G>C (p.Gly78Arg) n.588+1530G>C | |
| X | g.154154638G= | CA2466613684 | OPN1LW | c.643G= (p.Gly215=) c.232G= (p.Gly78=) n.588+1530G= | |
| X | g.154154638G>T | CA415306327 | OPN1LW | c.643G>T (p.Gly215Trp) c.232G>T (p.Gly78Trp) n.588+1530G>T | |
| X | g.154154639G>A | CA415306335 | OPN1LW | c.644G>A (p.Gly215Glu) c.233G>A (p.Gly78Glu) n.588+1531G>A | |
| X | g.154154639G>C | CA415306333 | OPN1LW | c.644G>C (p.Gly215Ala) c.233G>C (p.Gly78Ala) n.588+1531G>C | |
| X | g.154154639G>T | CA415306329 | OPN1LW | c.644G>T (p.Gly215Val) c.233G>T (p.Gly78Val) n.588+1531G>T | |
| X | g.154154640G>A | CA519323027 | OPN1LW | c.645G>A (p.Gly215=) c.234G>A (p.Gly78=) n.588+1532G>A | gnomAD v4 |
| X | g.154154640G>C | CA519323028 | OPN1LW | c.645G>C (p.Gly215=) c.234G>C (p.Gly78=) n.588+1532G>C | |
| X | g.154154640G>T | CA519323029 | OPN1LW | c.645G>T (p.Gly215=) c.234G>T (p.Gly78=) n.588+1532G>T | |
| X | g.154154641G>A | CA415306337 | OPN1LW | c.646G>A (p.Val216Met) c.235G>A (p.Val79Met) n.588+1533G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154154641G>C | CA415306342 | OPN1LW | c.646G>C (p.Val216Leu) c.235G>C (p.Val79Leu) n.588+1533G>C | |
| X | g.154154641G= | CA2466613685 | OPN1LW | c.646G= (p.Val216=) c.235G= (p.Val79=) n.588+1533G= | |
| X | g.154154641G>T | CA415306346 | OPN1LW | c.646G>T (p.Val216Leu) c.235G>T (p.Val79Leu) n.588+1533G>T | |
| X | g.154154642T>A | CA415306369 | OPN1LW | c.647T>A (p.Val216Glu) c.236T>A (p.Val79Glu) n.588+1534T>A | |
| X | g.154154642T>C | CA415306371 | OPN1LW | c.647T>C (p.Val216Ala) c.236T>C (p.Val79Ala) n.588+1534T>C | |
| X | g.154154642T>G | CA415306373 | OPN1LW | c.647T>G (p.Val216Gly) c.236T>G (p.Val79Gly) n.588+1534T>G | |
| X | g.154154643G>A | CA10558867 | OPN1LW | c.648G>A (p.Val216=) c.237G>A (p.Val79=) n.588+1535G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154154643G>C | CA519323030 | OPN1LW | c.648G>C (p.Val216=) c.237G>C (p.Val79=) n.588+1535G>C | |
| X | g.154154643G= | CA2466613686 | OPN1LW | c.648G= (p.Val216=) c.237G= (p.Val79=) n.588+1535G= | |
| X | g.154154643G>T | CA519323031 | OPN1LW | c.648G>T (p.Val216=) c.237G>T (p.Val79=) n.588+1535G>T | |
| X | g.154154644C>A | CA415306377 | OPN1LW | c.649C>A (p.Gln217Lys) c.238C>A (p.Gln80Lys) n.588+1536C>A | |
| X | g.154154644C>G | CA415306381 | OPN1LW | c.649C>G (p.Gln217Glu) c.238C>G (p.Gln80Glu) n.588+1536C>G | |
| X | g.154154644C>T | CA415306382 | OPN1LW | c.649C>T (p.Gln217Ter) c.238C>T (p.Gln80Ter) n.588+1536C>T | |
| X | g.154154645A>C | CA415306393 | OPN1LW | c.650A>C (p.Gln217Pro) c.239A>C (p.Gln80Pro) n.588+1537A>C | |
| X | g.154154645A>G | CA415306389 | OPN1LW | c.650A>G (p.Gln217Arg) c.239A>G (p.Gln80Arg) n.588+1537A>G | |
| X | g.154154645A>T | CA415306384 | OPN1LW | c.650A>T (p.Gln217Leu) c.239A>T (p.Gln80Leu) n.588+1537A>T | |
| X | g.154154646G>A | CA519323032 | OPN1LW | c.651G>A (p.Gln217=) c.240G>A (p.Gln80=) n.588+1538G>A | |
| X | g.154154646G>C | CA415306400 | OPN1LW | c.651G>C (p.Gln217His) c.240G>C (p.Gln80His) n.588+1538G>C | |
| X | g.154154646G= | CA2466613687 | OPN1LW | c.651G= (p.Gln217=) c.240G= (p.Gln80=) n.588+1538G= | |
| X | g.154154646G>T | CA415306403 | OPN1LW | c.651G>T (p.Gln217His) c.240G>T (p.Gln80His) n.588+1538G>T | dbSNP |
| X | g.154154647T>A | CA415306408 | OPN1LW | c.652T>A (p.Ser218Thr) c.241T>A (p.Ser81Thr) n.588+1539T>A | |
| X | g.154154647T>C | CA415306413 | OPN1LW | c.652T>C (p.Ser218Pro) c.241T>C (p.Ser81Pro) n.588+1539T>C | |
| X | g.154154647T>G | CA415306416 | OPN1LW | c.652T>G (p.Ser218Ala) c.241T>G (p.Ser81Ala) n.588+1539T>G | |
| X | g.154154648C>A | CA415306421 | OPN1LW | c.653C>A (p.Ser218Tyr) c.242C>A (p.Ser81Tyr) n.588+1540C>A | |
| X | g.154154648C>G | CA415306422 | OPN1LW | c.653C>G (p.Ser218Cys) c.242C>G (p.Ser81Cys) n.588+1540C>G | |
| X | g.154154648C>T | CA415306423 | OPN1LW | c.653C>T (p.Ser218Phe) c.242C>T (p.Ser81Phe) n.588+1540C>T | |
| X | g.154154649T>A | CA519323033 | OPN1LW | c.654T>A (p.Ser218=) c.243T>A (p.Ser81=) n.588+1541T>A | |
| X | g.154154649T>C | CA519323034 | OPN1LW | c.654T>C (p.Ser218=) c.243T>C (p.Ser81=) n.588+1541T>C | |
| X | g.154154649T>G | CA519323035 | OPN1LW | c.654T>G (p.Ser218=) c.243T>G (p.Ser81=) n.588+1541T>G | |
| X | g.154154650T>A | CA415306428 | OPN1LW | c.655T>A (p.Tyr219Asn) c.244T>A (p.Tyr82Asn) n.588+1542T>A | |
| X | g.154154650T>C | CA415306431 | OPN1LW | c.655T>C (p.Tyr219His) c.244T>C (p.Tyr82His) n.588+1542T>C | gnomAD v4 |
| X | g.154154650T>G | CA415306433 | OPN1LW | c.655T>G (p.Tyr219Asp) c.244T>G (p.Tyr82Asp) n.588+1542T>G | |
| X | g.154154651A>C | CA415306444 | OPN1LW | c.656A>C (p.Tyr219Ser) c.245A>C (p.Tyr82Ser) n.588+1543A>C | |
| X | g.154154651A>G | CA415306438 | OPN1LW | c.656A>G (p.Tyr219Cys) c.245A>G (p.Tyr82Cys) n.588+1543A>G | |
| X | g.154154651A>T | CA415306442 | OPN1LW | c.656A>T (p.Tyr219Phe) c.245A>T (p.Tyr82Phe) n.588+1543A>T | |
| X | g.154154652C>A | CA415306446 | OPN1LW | c.657C>A (p.Tyr219Ter) c.246C>A (p.Tyr82Ter) n.588+1544C>A | |
| X | g.154154652C>G | CA415306451 | OPN1LW | c.657C>G (p.Tyr219Ter) c.246C>G (p.Tyr82Ter) n.588+1544C>G | |
| X | g.154154652C>T | CA519323036 | OPN1LW | c.657C>T (p.Tyr219=) c.246C>T (p.Tyr82=) n.588+1544C>T | |
| X | g.154154653A= | CA2466613688 | OPN1LW | c.658A= (p.Met220=) c.247A= (p.Met83=) n.588+1545A= | |
| X | g.154154653A>C | CA415306457 | OPN1LW | c.658A>C (p.Met220Leu) c.247A>C (p.Met83Leu) n.588+1545A>C | |
| X | g.154154653A>G | CA415306460 | OPN1LW | c.658A>G (p.Met220Val) c.247A>G (p.Met83Val) n.588+1545A>G | dbSNP |
| X | g.154154653A>T | CA415306463 | OPN1LW | c.658A>T (p.Met220Leu) c.247A>T (p.Met83Leu) n.588+1545A>T | |
| X | g.154154654T>A | CA415306469 | OPN1LW | c.659T>A (p.Met220Lys) c.248T>A (p.Met83Lys) n.588+1546T>A | |
| X | g.154154654T>C | CA415306471 | OPN1LW | c.659T>C (p.Met220Thr) c.248T>C (p.Met83Thr) n.588+1546T>C | gnomAD v4 |
| X | g.154154654T>G | CA415306479 | OPN1LW | c.659T>G (p.Met220Arg) c.248T>G (p.Met83Arg) n.588+1546T>G | |
| X | g.154154655G>A | CA415306484 | OPN1LW | c.660G>A (p.Met220Ile) c.249G>A (p.Met83Ile) n.588+1547G>A | |
| X | g.154154655G>C | CA10558868 | OPN1LW | c.660G>C (p.Met220Ile) c.249G>C (p.Met83Ile) n.588+1547G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154154655G= | CA2466613689 | OPN1LW | c.660G= (p.Met220=) c.249G= (p.Met83=) n.588+1547G= | |
| X | g.154154655G>T | CA415306498 | OPN1LW | c.660G>T (p.Met220Ile) c.249G>T (p.Met83Ile) n.588+1547G>T | |
| X | g.154154656A>C | CA415306510 | OPN1LW | c.661A>C (p.Ile221Leu) c.250A>C (p.Ile84Leu) n.588+1548A>C | |
| X | g.154154656A>G | CA415306507 | OPN1LW | c.661A>G (p.Ile221Val) c.250A>G (p.Ile84Val) n.588+1548A>G | |
| X | g.154154656A>T | CA415306503 | OPN1LW | c.661A>T (p.Ile221Phe) c.250A>T (p.Ile84Phe) n.588+1548A>T | |
| X | g.154154657T>A | CA10558870 | OPN1LW | c.662T>A (p.Ile221Asn) c.251T>A (p.Ile84Asn) n.588+1549T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154154657T>C | CA10558869 | OPN1LW | c.662T>C (p.Ile221Thr) c.251T>C (p.Ile84Thr) n.588+1549T>C | dbSNP ExAC gnomAD v4 |
| X | g.154154657T>G | CA415306521 | OPN1LW | c.662T>G (p.Ile221Ser) c.251T>G (p.Ile84Ser) n.588+1549T>G | |
| X | g.154154657T= | CA2466613690 | OPN1LW | c.662T= (p.Ile221=) c.251T= (p.Ile84=) n.588+1549T= | |
| X | g.154154658T>A | CA519323037 | OPN1LW | c.663T>A (p.Ile221=) c.252T>A (p.Ile84=) n.588+1550T>A | |
| X | g.154154658T>C | CA519323038 | OPN1LW | c.663T>C (p.Ile221=) c.252T>C (p.Ile84=) n.588+1550T>C | |
| X | g.154154658T>G | CA415306531 | OPN1LW | c.663T>G (p.Ile221Met) c.252T>G (p.Ile84Met) n.588+1550T>G | |
| X | g.154154659G>A | CA10558871 | OPN1LW | c.664G>A (p.Val222Ile) c.253G>A (p.Val85Ile) n.588+1551G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154154659G>C | CA415306545 | OPN1LW | c.664G>C (p.Val222Leu) c.253G>C (p.Val85Leu) n.588+1551G>C | |
| X | g.154154659G= | CA2466613691 | OPN1LW | c.664G= (p.Val222=) c.253G= (p.Val85=) n.588+1551G= | |
| X | g.154154659G>T | CA415306548 | OPN1LW | c.664G>T (p.Val222Phe) c.253G>T (p.Val85Phe) n.588+1551G>T | |
| X | g.154154660T>A | CA415306554 | OPN1LW | c.665T>A (p.Val222Asp) c.254T>A (p.Val85Asp) n.588+1552T>A | |
| X | g.154154660T>C | CA415306558 | OPN1LW | c.665T>C (p.Val222Ala) c.254T>C (p.Val85Ala) n.588+1552T>C | gnomAD v4 |
| X | g.154154660T>G | CA415306563 | OPN1LW | c.665T>G (p.Val222Gly) c.254T>G (p.Val85Gly) n.588+1552T>G | |
| X | g.154154661C>A | CA10558872 | OPN1LW | c.666C>A (p.Val222=) c.255C>A (p.Val85=) n.588+1553C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154154661C= | CA2466613692 | OPN1LW | c.666C= (p.Val222=) c.255C= (p.Val85=) n.588+1553C= | |
| X | g.154154661C>G | CA519323039 | OPN1LW | c.666C>G (p.Val222=) c.255C>G (p.Val85=) n.588+1553C>G | |
| X | g.154154661C>T | CA519323040 | OPN1LW | c.666C>T (p.Val222=) c.255C>T (p.Val85=) n.588+1553C>T | |
| X | g.154154662C>A | CA415306573 | OPN1LW | c.667C>A (p.Leu223Ile) c.256C>A (p.Leu86Ile) n.588+1554C>A | gnomAD v4 |
| X | g.154154662C>G | CA415306576 | OPN1LW | c.667C>G (p.Leu223Val) c.256C>G (p.Leu86Val) n.588+1554C>G | |
| X | g.154154662C>T | CA415306580 | OPN1LW | c.667C>T (p.Leu223Phe) c.256C>T (p.Leu86Phe) n.588+1554C>T | dbSNP |
| X | g.154154663T>A | CA415306585 | OPN1LW | c.668T>A (p.Leu223His) c.257T>A (p.Leu86His) n.588+1555T>A | |
| X | g.154154663T>C | CA415306581 | OPN1LW | c.668T>C (p.Leu223Pro) c.257T>C (p.Leu86Pro) n.588+1555T>C | |
| X | g.154154663T>G | CA415306582 | OPN1LW | c.668T>G (p.Leu223Arg) c.257T>G (p.Leu86Arg) n.588+1555T>G | |
| X | g.154154664C>A | CA519323041 | OPN1LW | c.669C>A (p.Leu223=) c.258C>A (p.Leu86=) n.588+1556C>A | |
| X | g.154154664C= | CA2466613693 | OPN1LW | c.669C= (p.Leu223=) c.258C= (p.Leu86=) n.588+1556C= | |
| X | g.154154664C>G | CA519323042 | OPN1LW | c.669C>G (p.Leu223=) c.258C>G (p.Leu86=) n.588+1556C>G | gnomAD v4 |
| X | g.154154664C>T | CA519323043 | OPN1LW | c.669C>T (p.Leu223=) c.258C>T (p.Leu86=) n.588+1556C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154154665A= | CA2466613694 | OPN1LW | c.670A= (p.Met224=) c.259A= (p.Met87=) n.588+1557A= | |
| X | g.154154665A>C | CA415306599 | OPN1LW | c.670A>C (p.Met224Leu) c.259A>C (p.Met87Leu) n.588+1557A>C | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154154665A>G | CA415306605 | OPN1LW | c.670A>G (p.Met224Val) c.259A>G (p.Met87Val) n.588+1557A>G | dbSNP |
| X | g.154154665A>T | CA415306609 | OPN1LW | c.670A>T (p.Met224Leu) c.259A>T (p.Met87Leu) n.588+1557A>T | |
| X | g.154154666T>A | CA415306619 | OPN1LW | c.671T>A (p.Met224Lys) c.260T>A (p.Met87Lys) n.588+1558T>A | |
| X | g.154154666T>C | CA415306622 | OPN1LW | c.671T>C (p.Met224Thr) c.260T>C (p.Met87Thr) n.588+1558T>C | |
| X | g.154154666T>G | CA415306626 | OPN1LW | c.671T>G (p.Met224Arg) c.260T>G (p.Met87Arg) n.588+1558T>G | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154154666T= | CA2466613695 | OPN1LW | c.671T= (p.Met224=) c.260T= (p.Met87=) n.588+1558T= | |
| X | g.154154667_154154669del | CA2695106640 | OPN1LW | c.672_674del (p.Met224_Val225delinsIle) c.261_263del (p.Met87_Val88delinsIle) n.588+1559_588+1561del | gnomAD v4 |
| X | g.154154667G>A | CA415306645 | OPN1LW | c.672G>A (p.Met224Ile) c.261G>A (p.Met87Ile) n.588+1559G>A | gnomAD v4 |
| X | g.154154667G>C | CA415306649 | OPN1LW | c.672G>C (p.Met224Ile) c.261G>C (p.Met87Ile) n.588+1559G>C | |
| X | g.154154667G>T | CA415306650 | OPN1LW | c.672G>T (p.Met224Ile) c.261G>T (p.Met87Ile) n.588+1559G>T | |
| X | g.154154668G>A | CA415306654 | OPN1LW | c.673G>A (p.Val225Ile) c.262G>A (p.Val88Ile) n.588+1560G>A | |
| X | g.154154668G>C | CA415306659 | OPN1LW | c.673G>C (p.Val225Leu) c.262G>C (p.Val88Leu) n.588+1560G>C | |
| X | g.154154668G>T | CA415306663 | OPN1LW | c.673G>T (p.Val225Phe) c.262G>T (p.Val88Phe) n.588+1560G>T | |
| X | g.154154669T>A | CA415306670 | OPN1LW | c.674T>A (p.Val225Asp) c.263T>A (p.Val88Asp) n.588+1561T>A | |
| X | g.154154669T>C | CA415306677 | OPN1LW | c.674T>C (p.Val225Ala) c.263T>C (p.Val88Ala) n.588+1561T>C | |
| X | g.154154669T>G | CA415306673 | OPN1LW | c.674T>G (p.Val225Gly) c.263T>G (p.Val88Gly) n.588+1561T>G | |
| X | g.154154670C>A | CA519323044 | OPN1LW | c.675C>A (p.Val225=) c.264C>A (p.Val88=) n.588+1562C>A | gnomAD v4 |
| X | g.154154670C>G | CA519323045 | OPN1LW | c.675C>G (p.Val225=) c.264C>G (p.Val88=) n.588+1562C>G | |
| X | g.154154670C>T | CA519323046 | OPN1LW | c.675C>T (p.Val225=) c.264C>T (p.Val88=) n.588+1562C>T | |
| X | g.154154671A>C | CA415306686 | OPN1LW | c.676A>C (p.Thr226Pro) c.265A>C (p.Thr89Pro) n.588+1563A>C | |
| X | g.154154671A>G | CA415306701 | OPN1LW | c.676A>G (p.Thr226Ala) c.265A>G (p.Thr89Ala) n.588+1563A>G | |
| X | g.154154671A>T | CA415306704 | OPN1LW | c.676A>T (p.Thr226Ser) c.265A>T (p.Thr89Ser) n.588+1563A>T | |
| X | g.154154672C>A | CA415306714 | OPN1LW | c.677C>A (p.Thr226Asn) c.266C>A (p.Thr89Asn) n.588+1564C>A | |
| X | g.154154672C>G | CA415306718 | OPN1LW | c.677C>G (p.Thr226Ser) c.266C>G (p.Thr89Ser) n.588+1564C>G | |
| X | g.154154672C>T | CA415306721 | OPN1LW | c.677C>T (p.Thr226Ile) c.266C>T (p.Thr89Ile) n.588+1564C>T | |
| X | g.154154673C>A | CA519323047 | OPN1LW | c.678C>A (p.Thr226=) c.267C>A (p.Thr89=) n.588+1565C>A | COSMIC COSMIC |
| X | g.154154673C>G | CA519323048 | OPN1LW | c.678C>G (p.Thr226=) c.267C>G (p.Thr89=) n.588+1565C>G | |
| X | g.154154673C>T | CA519323049 | OPN1LW | c.678C>T (p.Thr226=) c.267C>T (p.Thr89=) n.588+1565C>T | |
| X | g.154154674T>A | CA415306725 | OPN1LW | c.679T>A (p.Cys227Ser) c.268T>A (p.Cys90Ser) n.588+1566T>A | |
| X | g.154154674T>C | CA415306729 | OPN1LW | c.679T>C (p.Cys227Arg) c.268T>C (p.Cys90Arg) n.588+1566T>C | |
| X | g.154154674T>G | CA415306732 | OPN1LW | c.679T>G (p.Cys227Gly) c.268T>G (p.Cys90Gly) n.588+1566T>G | |
| X | g.154154675G>A | CA415306738 | OPN1LW | c.680G>A (p.Cys227Tyr) c.269G>A (p.Cys90Tyr) n.588+1567G>A | |
| X | g.154154675G>C | CA415306742 | OPN1LW | c.680G>C (p.Cys227Ser) c.269G>C (p.Cys90Ser) n.588+1567G>C | |
| X | g.154154675G>T | CA415306746 | OPN1LW | c.680G>T (p.Cys227Phe) c.269G>T (p.Cys90Phe) n.588+1567G>T | |
| X | g.154154676C>A | CA415306760 | OPN1LW | c.681C>A (p.Cys227Ter) c.270C>A (p.Cys90Ter) n.588+1568C>A | |
| X | g.154154676C>G | CA415306763 | OPN1LW | c.681C>G (p.Cys227Trp) c.270C>G (p.Cys90Trp) n.588+1568C>G | |
| X | g.154154676C>T | CA519323050 | OPN1LW | c.681C>T (p.Cys227=) c.270C>T (p.Cys90=) n.588+1568C>T | |
| X | g.154154677T>A | CA415306770 | OPN1LW | c.682T>A (p.Cys228Ser) c.271T>A (p.Cys91Ser) n.588+1569T>A | |
| X | g.154154677T>C | CA415306773 | OPN1LW | c.682T>C (p.Cys228Arg) c.271T>C (p.Cys91Arg) n.588+1569T>C | |
| X | g.154154677T>G | CA415306777 | OPN1LW | c.682T>G (p.Cys228Gly) c.271T>G (p.Cys91Gly) n.588+1569T>G | |
| X | g.154154678G>A | CA415306783 | OPN1LW | c.683G>A (p.Cys228Tyr) c.272G>A (p.Cys91Tyr) n.588+1570G>A | |
| X | g.154154678G>C | CA415306785 | OPN1LW | c.683G>C (p.Cys228Ser) c.272G>C (p.Cys91Ser) n.588+1570G>C | |
| X | g.154154678G>T | CA415306790 | OPN1LW | c.683G>T (p.Cys228Phe) c.272G>T (p.Cys91Phe) n.588+1570G>T | COSMIC COSMIC |
| X | g.154154679C>A | CA415306807 | OPN1LW | c.684C>A (p.Cys228Ter) c.273C>A (p.Cys91Ter) n.588+1571C>A | |
| X | g.154154679C>G | CA415306812 | OPN1LW | c.684C>G (p.Cys228Trp) c.273C>G (p.Cys91Trp) n.588+1571C>G | |
| X | g.154154679C>T | CA519323051 | OPN1LW | c.684C>T (p.Cys228=) c.273C>T (p.Cys91=) n.588+1571C>T | |
| X | g.154154680A>C | CA415306819 | OPN1LW | c.685A>C (p.Ile229Leu) c.274A>C (p.Ile92Leu) n.588+1572A>C | |
| X | g.154154680A>G | CA415306823 | OPN1LW | c.685A>G (p.Ile229Val) c.274A>G (p.Ile92Val) n.588+1572A>G | gnomAD v4 |
| X | g.154154680A>T | CA415306826 | OPN1LW | c.685A>T (p.Ile229Phe) c.274A>T (p.Ile92Phe) n.588+1572A>T | |
| X | g.154154681T>A | CA415306837 | OPN1LW | c.686T>A (p.Ile229Asn) c.275T>A (p.Ile92Asn) n.588+1573T>A | |
| X | g.154154681T>C | CA415306842 | OPN1LW | c.686T>C (p.Ile229Thr) c.275T>C (p.Ile92Thr) n.588+1573T>C | |
| X | g.154154681T>G | CA415306835 | OPN1LW | c.686T>G (p.Ile229Ser) c.275T>G (p.Ile92Ser) n.588+1573T>G | |
| X | g.154154682C>A | CA519323053 | OPN1LW | c.687C>A (p.Ile229=) c.276C>A (p.Ile92=) n.588+1574C>A | |
| X | g.154154682C>G | CA415306847 | OPN1LW | c.687C>G (p.Ile229Met) c.276C>G (p.Ile92Met) n.588+1574C>G | |
| X | g.154154682C>T | CA519323052 | OPN1LW | c.687C>T (p.Ile229=) c.276C>T (p.Ile92=) n.588+1574C>T | gnomAD v4 |
| X | g.154154683A= | CA2466613696 | OPN1LW | c.688A= (p.Ile230=) c.277A= (p.Ile93=) n.588+1575A= | |
| X | g.154154683A>C | CA415306860 | OPN1LW | c.688A>C (p.Ile230Leu) c.277A>C (p.Ile93Leu) n.588+1575A>C | |
| X | g.154154683A>G | CA10558873 | OPN1LW | c.688A>G (p.Ile230Val) c.277A>G (p.Ile93Val) n.588+1575A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154154683A>T | CA415306863 | OPN1LW | c.688A>T (p.Ile230Phe) c.277A>T (p.Ile93Phe) n.588+1575A>T | |
| X | g.154154684T>A | CA415306869 | OPN1LW | c.689T>A (p.Ile230Asn) c.278T>A (p.Ile93Asn) n.588+1576T>A | |
| X | g.154154684T>C | CA10558874 | OPN1LW | c.689T>C (p.Ile230Thr) c.278T>C (p.Ile93Thr) n.588+1576T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.154154684T>G | CA415306888 | OPN1LW | c.689T>G (p.Ile230Ser) c.278T>G (p.Ile93Ser) n.588+1576T>G | |
| X | g.154154684T= | CA2466613697 | OPN1LW | c.689T= (p.Ile230=) c.278T= (p.Ile93=) n.588+1576T= | |
| X | g.154154685C>A | CA519323056 | OPN1LW | c.690C>A (p.Ile230=) c.279C>A (p.Ile93=) n.588+1577C>A | |
| X | g.154154685C>G | CA415306894 | OPN1LW | c.690C>G (p.Ile230Met) c.279C>G (p.Ile93Met) n.588+1577C>G | |
| X | g.154154685C>T | CA519323054 | OPN1LW | c.690C>T (p.Ile230=) c.279C>T (p.Ile93=) n.588+1577C>T | |
| X | g.154154686C>A | CA415306899 | OPN1LW | c.691C>A (p.Pro231Thr) c.280C>A (p.Pro94Thr) n.588+1578C>A | gnomAD v4 |
| X | g.154154686C>G | CA415306905 | OPN1LW | c.691C>G (p.Pro231Ala) c.280C>G (p.Pro94Ala) n.588+1578C>G | |
| X | g.154154686C>T | CA415306919 | OPN1LW | c.691C>T (p.Pro231Ser) c.280C>T (p.Pro94Ser) n.588+1578C>T | COSMIC COSMIC |
| X | g.154154687C>A | CA415306926 | OPN1LW | c.692C>A (p.Pro231Gln) c.281C>A (p.Pro94Gln) n.588+1579C>A | |
| X | g.154154687C>G | CA415306934 | OPN1LW | c.692C>G (p.Pro231Arg) c.281C>G (p.Pro94Arg) n.588+1579C>G | |
| X | g.154154687C>T | CA415306937 | OPN1LW | c.692C>T (p.Pro231Leu) c.281C>T (p.Pro94Leu) n.588+1579C>T | |
| X | g.154154688A>C | CA519323057 | OPN1LW | c.693A>C (p.Pro231=) c.282A>C (p.Pro94=) n.588+1580A>C | gnomAD v4 |
| X | g.154154688A>G | CA519323058 | OPN1LW | c.693A>G (p.Pro231=) c.282A>G (p.Pro94=) n.588+1580A>G | gnomAD v4 |
| X | g.154154688A>T | CA519323059 | OPN1LW | c.693A>T (p.Pro231=) c.282A>T (p.Pro94=) n.588+1580A>T | dbSNP |
| X | g.154154689C>A | CA415306952 | OPN1LW | c.694C>A (p.Leu232Ile) c.283C>A (p.Leu95Ile) n.588+1581C>A | |
| X | g.154154689C>G | CA415306943 | OPN1LW | c.694C>G (p.Leu232Val) c.283C>G (p.Leu95Val) n.588+1581C>G | |
| X | g.154154689C>T | CA415306946 | OPN1LW | c.694C>T (p.Leu232Phe) c.283C>T (p.Leu95Phe) n.588+1581C>T | |
| X | g.154154690T>A | CA415306956 | OPN1LW | c.695T>A (p.Leu232His) c.284T>A (p.Leu95His) n.588+1582T>A | |
| X | g.154154690T>C | CA415306958 | OPN1LW | c.695T>C (p.Leu232Pro) c.284T>C (p.Leu95Pro) n.588+1582T>C | |
| X | g.154154690T>G | CA415306961 | OPN1LW | c.695T>G (p.Leu232Arg) c.284T>G (p.Leu95Arg) n.588+1582T>G | |
| X | g.154154691C>A | CA519323060 | OPN1LW | c.696C>A (p.Leu232=) c.285C>A (p.Leu95=) n.588+1583C>A | |
| X | g.154154691C= | CA2466613698 | OPN1LW | c.696C= (p.Leu232=) c.285C= (p.Leu95=) n.588+1583C= | |
| X | g.154154691C>G | CA519323061 | OPN1LW | c.696C>G (p.Leu232=) c.285C>G (p.Leu95=) n.588+1583C>G | |
| X | g.154154691C>T | CA10558875 | OPN1LW | c.696C>T (p.Leu232=) c.285C>T (p.Leu95=) n.588+1583C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.154154691_154154692insA | CA2695106641 | OPN1LW | c.696_697insA (p.Ala233SerfsTer25) c.285_286insA (p.Ala96SerfsTer25) n.588+1583_588+1584insA | gnomAD v4 |
| X | g.154154692G>A | CA10558876 | OPN1LW | c.697G>A (p.Ala233Thr) c.286G>A (p.Ala96Thr) n.588+1584G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154154692G>C | CA415306989 | OPN1LW | c.697G>C (p.Ala233Pro) c.286G>C (p.Ala96Pro) n.588+1584G>C | |
| X | g.154154692G= | CA2466613699 | OPN1LW | c.697G= (p.Ala233=) c.286G= (p.Ala96=) n.588+1584G= | |
| X | g.154154692G>T | CA415307007 | OPN1LW | c.697G>T (p.Ala233Ser) c.286G>T (p.Ala96Ser) n.588+1584G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.154154693C>A | CA415307008 | OPN1LW | c.698C>A (p.Ala233Asp) c.287C>A (p.Ala96Asp) n.588+1585C>A | |
| X | g.154154693C= | CA2466613700 | OPN1LW | c.698C= (p.Ala233=) c.287C= (p.Ala96=) n.588+1585C= | |
| X | g.154154693C>G | CA415307010 | OPN1LW | c.698C>G (p.Ala233Gly) c.287C>G (p.Ala96Gly) n.588+1585C>G | gnomAD v4 |
| X | g.154154693C>T | CA415307013 | OPN1LW | c.698C>T (p.Ala233Val) c.287C>T (p.Ala96Val) n.588+1585C>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154154694del | CA2695106642 | OPN1LW | c.699del (p.Ile234SerfsTer?) c.288del (p.Ile97SerfsTer?) n.588+1586del | gnomAD v4 |
| X | g.154154694T>A | CA519323063 | OPN1LW | c.699T>A (p.Ala233=) c.288T>A (p.Ala96=) n.588+1586T>A | gnomAD v4 |
| X | g.154154694T>C | CA519323065 | OPN1LW | c.699T>C (p.Ala233=) c.288T>C (p.Ala96=) n.588+1586T>C | dbSNP gnomAD v4 |
| X | g.154154694T>G | CA519323066 | OPN1LW | c.699T>G (p.Ala233=) c.288T>G (p.Ala96=) n.588+1586T>G | |
| X | g.154154694T= | CA2466613701 | OPN1LW | c.699T= (p.Ala233=) c.288T= (p.Ala96=) n.588+1586T= | |
| X | g.154154695A>C | CA415307015 | OPN1LW | c.700A>C (p.Ile234Leu) c.289A>C (p.Ile97Leu) n.588+1587A>C | |
| X | g.154154695A>G | CA415307019 | OPN1LW | c.700A>G (p.Ile234Val) c.289A>G (p.Ile97Val) n.588+1587A>G | |
| X | g.154154695A>T | CA415307014 | OPN1LW | c.700A>T (p.Ile234Phe) c.289A>T (p.Ile97Phe) n.588+1587A>T | |
| X | g.154154696T>A | CA415307024 | OPN1LW | c.701T>A (p.Ile234Asn) c.290T>A (p.Ile97Asn) n.588+1588T>A | |
| X | g.154154696T>C | CA415307027 | OPN1LW | c.701T>C (p.Ile234Thr) c.290T>C (p.Ile97Thr) n.588+1588T>C | |
| X | g.154154696T>G | CA415307032 | OPN1LW | c.701T>G (p.Ile234Ser) c.290T>G (p.Ile97Ser) n.588+1588T>G | |
| X | g.154154697C>A | CA519323067 | OPN1LW | c.702C>A (p.Ile234=) c.291C>A (p.Ile97=) n.588+1589C>A | |
| X | g.154154697C= | CA2466613702 | OPN1LW | c.702C= (p.Ile234=) c.291C= (p.Ile97=) n.588+1589C= | |
| X | g.154154697C>G | CA10558877 | OPN1LW | c.702C>G (p.Ile234Met) c.291C>G (p.Ile97Met) n.588+1589C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154154697C>T | CA519323068 | OPN1LW | c.702C>T (p.Ile234=) c.291C>T (p.Ile97=) n.588+1589C>T | gnomAD v4 |
| X | g.154154698A= | CA2466613703 | OPN1LW | c.703A= (p.Ile235=) c.292A= (p.Ile98=) n.588+1590A= | |
| X | g.154154698A>C | CA415307034 | OPN1LW | c.703A>C (p.Ile235Leu) c.292A>C (p.Ile98Leu) n.588+1590A>C | |
| X | g.154154698A>G | CA10558878 | OPN1LW | c.703A>G (p.Ile235Val) c.292A>G (p.Ile98Val) n.588+1590A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154154698A>T | CA415307050 | OPN1LW | c.703A>T (p.Ile235Phe) c.292A>T (p.Ile98Phe) n.588+1590A>T | |
| X | g.154154699T>A | CA415307061 | OPN1LW | c.704T>A (p.Ile235Asn) c.293T>A (p.Ile98Asn) n.588+1591T>A | gnomAD v4 |
| X | g.154154699T>C | CA415307067 | OPN1LW | c.704T>C (p.Ile235Thr) c.293T>C (p.Ile98Thr) n.588+1591T>C | dbSNP gnomAD v4 |
| X | g.154154699T>G | CA415307070 | OPN1LW | c.704T>G (p.Ile235Ser) c.293T>G (p.Ile98Ser) n.588+1591T>G | |
| X | g.154154699T= | CA2466613704 | OPN1LW | c.704T= (p.Ile235=) c.293T= (p.Ile98=) n.588+1591T= | |
| X | g.154154700C>A | CA519323072 | OPN1LW | c.705C>A (p.Ile235=) c.294C>A (p.Ile98=) n.588+1592C>A | gnomAD v4 |
| X | g.154154700C>G | CA415307077 | OPN1LW | c.705C>G (p.Ile235Met) c.294C>G (p.Ile98Met) n.588+1592C>G | |
| X | g.154154700C>T | CA519323071 | OPN1LW | c.705C>T (p.Ile235=) c.294C>T (p.Ile98=) n.588+1592C>T | gnomAD v4 |
| X | g.154154701A= | CA2466613705 | OPN1LW | c.706A= (p.Met236=) c.295A= (p.Met99=) n.589-1593A= | |
| X | g.154154701A>C | CA10558880 | OPN1LW | c.706A>C (p.Met236Leu) c.295A>C (p.Met99Leu) n.589-1593A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154154701A>G | CA10558879 | OPN1LW | c.706A>G (p.Met236Val) c.295A>G (p.Met99Val) n.589-1593A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154154701A>T | CA10558881 | OPN1LW | c.706A>T (p.Met236Leu) c.295A>T (p.Met99Leu) n.589-1593A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154154702T>A | CA415307087 | OPN1LW | c.707T>A (p.Met236Lys) c.296T>A (p.Met99Lys) n.589-1592T>A | |
| X | g.154154702T>C | CA415307100 | OPN1LW | c.707T>C (p.Met236Thr) c.296T>C (p.Met99Thr) n.589-1592T>C | gnomAD v4 |
| X | g.154154702T>G | CA415307107 | OPN1LW | c.707T>G (p.Met236Arg) c.296T>G (p.Met99Arg) n.589-1592T>G | |
| X | g.154154703G>A | CA415307111 | OPN1LW | c.708G>A (p.Met236Ile) c.297G>A (p.Met99Ile) n.589-1591G>A | |
| X | g.154154703G>C | CA415307114 | OPN1LW | c.708G>C (p.Met236Ile) c.297G>C (p.Met99Ile) n.589-1591G>C | |
| X | g.154154703G>T | CA415307115 | OPN1LW | c.708G>T (p.Met236Ile) c.297G>T (p.Met99Ile) n.589-1591G>T | |
| X | g.154154704C>A | CA415307119 | OPN1LW | c.709C>A (p.Leu237Ile) c.298C>A (p.Leu100Ile) n.589-1590C>A | |
| X | g.154154704C= | CA2466613706 | OPN1LW | c.709C= (p.Leu237=) c.298C= (p.Leu100=) n.589-1590C= | |
| X | g.154154704C>G | CA415307123 | OPN1LW | c.709C>G (p.Leu237Val) c.298C>G (p.Leu100Val) n.589-1590C>G | dbSNP |
| X | g.154154704C>T | CA415307127 | OPN1LW | c.709C>T (p.Leu237Phe) c.298C>T (p.Leu100Phe) n.589-1590C>T | |
| X | g.154154705T>A | CA415307144 | OPN1LW | c.710T>A (p.Leu237His) c.299T>A (p.Leu100His) n.589-1589T>A | |
| X | g.154154705T>C | CA415307145 | OPN1LW | c.710T>C (p.Leu237Pro) c.299T>C (p.Leu100Pro) n.589-1589T>C | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154154705T>G | CA415307146 | OPN1LW | c.710T>G (p.Leu237Arg) c.299T>G (p.Leu100Arg) n.589-1589T>G | |
| X | g.154154705T= | CA2466613707 | OPN1LW | c.710T= (p.Leu237=) c.299T= (p.Leu100=) n.589-1589T= | |
| X | g.154154706C>A | CA519323078 | OPN1LW | c.711C>A (p.Leu237=) c.300C>A (p.Leu100=) n.589-1588C>A | |
| X | g.154154706C= | CA2466613708 | OPN1LW | c.711C= (p.Leu237=) c.300C= (p.Leu100=) n.589-1588C= | |
| X | g.154154706C>G | CA519323080 | OPN1LW | c.711C>G (p.Leu237=) c.300C>G (p.Leu100=) n.589-1588C>G | gnomAD v4 |
| X | g.154154706C>T | CA519323079 | OPN1LW | c.711C>T (p.Leu237=) c.300C>T (p.Leu100=) n.589-1588C>T | dbSNP |
| X | g.154154707T>A | CA415307153 | OPN1LW | c.712T>A (p.Cys238Ser) c.301T>A (p.Cys101Ser) n.589-1587T>A | |
| X | g.154154707T>C | CA415307150 | OPN1LW | c.712T>C (p.Cys238Arg) c.301T>C (p.Cys101Arg) n.589-1587T>C | |
| X | g.154154707T>G | CA415307149 | OPN1LW | c.712T>G (p.Cys238Gly) c.301T>G (p.Cys101Gly) n.589-1587T>G | |
| X | g.154154708G>A | CA415307155 | OPN1LW | c.713G>A (p.Cys238Tyr) c.302G>A (p.Cys101Tyr) n.589-1586G>A | |
| X | g.154154708G>C | CA415307157 | OPN1LW | c.713G>C (p.Cys238Ser) c.302G>C (p.Cys101Ser) n.589-1586G>C | |
| X | g.154154708G= | CA2466613709 | OPN1LW | c.713G= (p.Cys238=) c.302G= (p.Cys101=) n.589-1586G= | |
| X | g.154154708G>T | CA415307159 | OPN1LW | c.713G>T (p.Cys238Phe) c.302G>T (p.Cys101Phe) n.589-1586G>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154154709C>A | CA415307161 | OPN1LW | c.714C>A (p.Cys238Ter) c.303C>A (p.Cys101Ter) n.589-1585C>A | |
| X | g.154154709C>G | CA415307163 | OPN1LW | c.714C>G (p.Cys238Trp) c.303C>G (p.Cys101Trp) n.589-1585C>G | |
| X | g.154154709C>T | CA519323083 | OPN1LW | c.714C>T (p.Cys238=) c.303C>T (p.Cys101=) n.589-1585C>T | COSMIC COSMIC |
| X | g.154154710T>A | CA415307166 | OPN1LW | c.715T>A (p.Tyr239Asn) c.304T>A (p.Tyr102Asn) n.589-1584T>A | |
| X | g.154154710T>C | CA415307168 | OPN1LW | c.715T>C (p.Tyr239His) c.304T>C (p.Tyr102His) n.589-1584T>C | |
| X | g.154154710T>G | CA415307170 | OPN1LW | c.715T>G (p.Tyr239Asp) c.304T>G (p.Tyr102Asp) n.589-1584T>G | |
| X | g.154154711A>C | CA415307173 | OPN1LW | c.716A>C (p.Tyr239Ser) c.305A>C (p.Tyr102Ser) n.589-1583A>C | |
| X | g.154154711A>G | CA415307175 | OPN1LW | c.716A>G (p.Tyr239Cys) c.305A>G (p.Tyr102Cys) n.589-1583A>G | |
| X | g.154154711A>T | CA415307179 | OPN1LW | c.716A>T (p.Tyr239Phe) c.305A>T (p.Tyr102Phe) n.589-1583A>T | |
| X | g.154154712C>A | CA415307183 | OPN1LW | c.717C>A (p.Tyr239Ter) c.306C>A (p.Tyr102Ter) n.589-1582C>A | |
| X | g.154154712C= | CA2466613710 | OPN1LW | c.717C= (p.Tyr239=) c.306C= (p.Tyr102=) n.589-1582C= | |
| X | g.154154712C>G | CA415307188 | OPN1LW | c.717C>G (p.Tyr239Ter) c.306C>G (p.Tyr102Ter) n.589-1582C>G | |
| X | g.154154712C>T | CA519323088 | OPN1LW | c.717C>T (p.Tyr239=) c.306C>T (p.Tyr102=) n.589-1582C>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154154713C>A | CA415307192 | OPN1LW | c.718C>A (p.Leu240Ile) c.307C>A (p.Leu103Ile) n.589-1581C>A | |
| X | g.154154713C>G | CA415307190 | OPN1LW | c.718C>G (p.Leu240Val) c.307C>G (p.Leu103Val) n.589-1581C>G | |
| X | g.154154713C>T | CA415307191 | OPN1LW | c.718C>T (p.Leu240Phe) c.307C>T (p.Leu103Phe) n.589-1581C>T | |
| X | g.154154714T>A | CA415307194 | OPN1LW | c.719T>A (p.Leu240His) c.308T>A (p.Leu103His) n.589-1580T>A | |
| X | g.154154714T>C | CA415307196 | OPN1LW | c.719T>C (p.Leu240Pro) c.308T>C (p.Leu103Pro) n.589-1580T>C | |
| X | g.154154714T>G | CA415307199 | OPN1LW | c.719T>G (p.Leu240Arg) c.308T>G (p.Leu103Arg) n.589-1580T>G | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154154714T= | CA2466613711 | OPN1LW | c.719T= (p.Leu240=) c.308T= (p.Leu103=) n.589-1580T= | |
| X | g.154154715C>A | CA519323090 | OPN1LW | c.720C>A (p.Leu240=) c.309C>A (p.Leu103=) n.589-1579C>A | |
| X | g.154154715C>G | CA519323091 | OPN1LW | c.720C>G (p.Leu240=) c.309C>G (p.Leu103=) n.589-1579C>G | |
| X | g.154154715C>T | CA519323092 | OPN1LW | c.720C>T (p.Leu240=) c.309C>T (p.Leu103=) n.589-1579C>T | |
| X | g.154154716del | CA2824289107 | OPN1LW | c.721del (p.Gln241LysfsTer26) c.310del (p.Gln104LysfsTer?) n.589-1578del | |
| X | g.154154716C>A | CA415307205 | OPN1LW | c.721C>A (p.Gln241Lys) c.310C>A (p.Gln104Lys) n.589-1578C>A | gnomAD v4 |
| X | g.154154716C>G | CA415307208 | OPN1LW | c.721C>G (p.Gln241Glu) c.310C>G (p.Gln104Glu) n.589-1578C>G | |
| X | g.154154716C>T | CA415307211 | OPN1LW | c.721C>T (p.Gln241Ter) c.310C>T (p.Gln104Ter) n.589-1578C>T | |
| X | g.154154717A>C | CA415307213 | OPN1LW | c.722A>C (p.Gln241Pro) c.311A>C (p.Gln104Pro) n.589-1577A>C | |
| X | g.154154717A>G | CA415307216 | OPN1LW | c.722A>G (p.Gln241Arg) c.311A>G (p.Gln104Arg) n.589-1577A>G | |
| X | g.154154717A>T | CA415307222 | OPN1LW | c.722A>T (p.Gln241Leu) c.311A>T (p.Gln104Leu) n.589-1577A>T | |
| X | g.154154718A>C | CA415307225 | OPN1LW | c.723A>C (p.Gln241His) c.312A>C (p.Gln104His) n.589-1576A>C | gnomAD v4 COSMIC COSMIC |
| X | g.154154718A>G | CA519323094 | OPN1LW | c.723A>G (p.Gln241=) c.312A>G (p.Gln104=) n.589-1576A>G | |
| X | g.154154718A>T | CA415307229 | OPN1LW | c.723A>T (p.Gln241His) c.312A>T (p.Gln104His) n.589-1576A>T | |
| X | g.154154719G>A | CA415307235 | OPN1LW | c.724G>A (p.Val242Met) c.313G>A (p.Val105Met) n.589-1575G>A | gnomAD v4 |
| X | g.154154719G>C | CA415307246 | OPN1LW | c.724G>C (p.Val242Leu) c.313G>C (p.Val105Leu) n.589-1575G>C | |
| X | g.154154719G>T | CA415307238 | OPN1LW | c.724G>T (p.Val242Leu) c.313G>T (p.Val105Leu) n.589-1575G>T | |
| X | g.154154720T>A | CA415307252 | OPN1LW | c.725T>A (p.Val242Glu) c.314T>A (p.Val105Glu) n.589-1574T>A | |
| X | g.154154720T>C | CA415307255 | OPN1LW | c.725T>C (p.Val242Ala) c.314T>C (p.Val105Ala) n.589-1574T>C | |
| X | g.154154720T>G | CA415307261 | OPN1LW | c.725T>G (p.Val242Gly) c.314T>G (p.Val105Gly) n.589-1574T>G | |
| X | g.154154721G>A | CA519323098 | OPN1LW | c.726G>A (p.Val242=) c.315G>A (p.Val105=) n.589-1573G>A | |
| X | g.154154721G>C | CA10558882 | OPN1LW | c.726G>C (p.Val242=) c.315G>C (p.Val105=) n.589-1573G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154154721G= | CA2466613712 | OPN1LW | c.726G= (p.Val242=) c.315G= (p.Val105=) n.589-1573G= | |
| X | g.154154721G>T | CA519323099 | OPN1LW | c.726G>T (p.Val242=) c.315G>T (p.Val105=) n.589-1573G>T | |
| X | g.154154722T>A | CA415307272 | OPN1LW | c.727T>A (p.Trp243Arg) c.316T>A (p.Trp106Arg) n.589-1572T>A | |
| X | g.154154722T>C | CA415307276 | OPN1LW | c.727T>C (p.Trp243Arg) c.316T>C (p.Trp106Arg) n.589-1572T>C | |
| X | g.154154722T>G | CA415307279 | OPN1LW | c.727T>G (p.Trp243Gly) c.316T>G (p.Trp106Gly) n.589-1572T>G | |
| X | g.154154723G>A | CA415307288 | OPN1LW | c.728G>A (p.Trp243Ter) c.317G>A (p.Trp106Ter) n.589-1571G>A | |
| X | g.154154723G>C | CA415307294 | OPN1LW | c.728G>C (p.Trp243Ser) c.317G>C (p.Trp106Ser) n.589-1571G>C | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154154723G= | CA2466613713 | OPN1LW | c.728G= (p.Trp243=) c.317G= (p.Trp106=) n.589-1571G= | |
| X | g.154154723G>T | CA415307304 | OPN1LW | c.728G>T (p.Trp243Leu) c.317G>T (p.Trp106Leu) n.589-1571G>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154154724G>A | CA415307318 | OPN1LW | c.729G>A (p.Trp243Ter) c.318G>A (p.Trp106Ter) n.589-1570G>A | |
| X | g.154154724G>C | CA10558883 | OPN1LW | c.729G>C (p.Trp243Cys) c.318G>C (p.Trp106Cys) n.589-1570G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154154724G= | CA2466613714 | OPN1LW | c.729G= (p.Trp243=) c.318G= (p.Trp106=) n.589-1570G= | |
| X | g.154154724G>T | CA415307312 | OPN1LW | c.729G>T (p.Trp243Cys) c.318G>T (p.Trp106Cys) n.589-1570G>T | gnomAD v4 |
| X | g.154154725C>A | CA415307322 | OPN1LW | c.730C>A (p.Leu244Met) c.319C>A (p.Leu107Met) n.589-1569C>A | |
| X | g.154154725C= | CA2466613715 | OPN1LW | c.730C= (p.Leu244=) c.319C= (p.Leu107=) n.589-1569C= | |
| X | g.154154725C>G | CA415307336 | OPN1LW | c.730C>G (p.Leu244Val) c.319C>G (p.Leu107Val) n.589-1569C>G | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.154154725C>T | CA519323105 | OPN1LW | c.730C>T (p.Leu244=) c.319C>T (p.Leu107=) n.589-1569C>T | dbSNP |
| X | g.154154726T>A | CA415307337 | OPN1LW | c.731T>A (p.Leu244Gln) c.320T>A (p.Leu107Gln) n.589-1568T>A | |
| X | g.154154726T>C | CA415307338 | OPN1LW | c.731T>C (p.Leu244Pro) c.320T>C (p.Leu107Pro) n.589-1568T>C | |
| X | g.154154726T>G | CA415307340 | OPN1LW | c.731T>G (p.Leu244Arg) c.320T>G (p.Leu107Arg) n.589-1568T>G | |
| X | g.154154727G>A | CA519323106 | OPN1LW | c.732G>A (p.Leu244=) c.321G>A (p.Leu107=) n.589-1567G>A | gnomAD v4 |
| X | g.154154727G>C | CA519323109 | OPN1LW | c.732G>C (p.Leu244=) c.321G>C (p.Leu107=) n.589-1567G>C | |
| X | g.154154727G>T | CA519323107 | OPN1LW | c.732G>T (p.Leu244=) c.321G>T (p.Leu107=) n.589-1567G>T | |
| X | g.154154728G>A | CA10558884 | OPN1LW | c.733G>A (p.Ala245Thr) c.322G>A (p.Ala108Thr) n.589-1566G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154154728G>C | CA415307349 | OPN1LW | c.733G>C (p.Ala245Pro) c.322G>C (p.Ala108Pro) n.589-1566G>C | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154154728G= | CA2466613716 | OPN1LW | c.733G= (p.Ala245=) c.322G= (p.Ala108=) n.589-1566G= | |
| X | g.154154728G>T | CA415307355 | OPN1LW | c.733G>T (p.Ala245Ser) c.322G>T (p.Ala108Ser) n.589-1566G>T |