Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154154628_154154647delinsCTCGTACCCCGGGGTGCAGT | CA2466613676 | OPN1LW | c.633_652delinsCTCGTACCCCGGGGTGCAGT (p.Ser211=) c.222_241delinsCTCGTACCCCGGGGTGCAGT (p.Ser74=) n.588+1520_588+1539delinsCTCGTACCCCGGGGTGCAGT | |
X | g.154154629_154154647del | CA2466613678 | OPN1LW | c.634_652del (p.Ser212LeufsTer3) c.223_241del (p.Ser75LeufsTer3) n.588+1521_588+1539del | dbSNP |
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 |