Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.74919896T>A | CA400962420 | USH1G | c.940A>T (p.Thr314Ser) c.*539A>T (n.*539A>T) c.631A>T (p.Thr211Ser) | |
17 | g.74919896T>C | CA400962426 | USH1G | c.940A>G (p.Thr314Ala) c.*539A>G (n.*539A>G) c.631A>G (p.Thr211Ala) | |
17 | g.74919896T>G | CA400962423 | USH1G | c.940A>C (p.Thr314Pro) c.*539A>C (n.*539A>C) c.631A>C (p.Thr211Pro) | dbSNP |
17 | g.74919896T= | CA2275255324 | USH1G | c.940A= (p.Thr314=) c.*539A= (n.*539A=) c.631A= (p.Thr211=) | |
17 | g.74919896_74919899delinsTGCC | CA2275255325 | USH1G | c.937_940delinsGGCA (p.Gly313=) c.*536_*539delinsGGCA (n.*536_*539delinsGGCA) c.628_631delinsGGCA (p.Gly210=) | |
17 | g.74919897G>A | CA502036654 | USH1G | c.939C>T (p.Gly313=) c.*538C>T (n.*538C>T) c.630C>T (p.Gly210=) | dbSNP |
17 | g.74919897G>C | CA502036656 | USH1G | c.939C>G (p.Gly313=) c.*538C>G (n.*538C>G) c.630C>G (p.Gly210=) | |
17 | g.74919897G= | CA2275255326 | USH1G | c.939C= (p.Gly313=) c.*538C= (n.*538C=) c.630C= (p.Gly210=) | |
17 | g.74919897G>T | CA502036657 | USH1G | c.939C>A (p.Gly313=) c.*538C>A (n.*538C>A) c.630C>A (p.Gly210=) | |
17 | g.74919897_74919899del | CA986277652 | USH1G | c.937_939del (p.Gly313del) c.*536_*538del (n.*536_*538del) c.628_630del (p.Gly210del) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.74919898C>A | CA400962430 | USH1G | c.938G>T (p.Gly313Val) c.*537G>T (n.*537G>T) c.629G>T (p.Gly210Val) | |
17 | g.74919898C>G | CA400962432 | USH1G | c.938G>C (p.Gly313Ala) c.*537G>C (n.*537G>C) c.629G>C (p.Gly210Ala) | |
17 | g.74919898C>T | CA400962434 | USH1G | c.938G>A (p.Gly313Asp) c.*537G>A (n.*537G>A) c.629G>A (p.Gly210Asp) | |
17 | g.74919899C>A | CA400962438 | USH1G | c.937G>T (p.Gly313Cys) c.*536G>T (n.*536G>T) c.628G>T (p.Gly210Cys) | |
17 | g.74919899C>G | CA400962440 | USH1G | c.937G>C (p.Gly313Arg) c.*536G>C (n.*536G>C) c.628G>C (p.Gly210Arg) | |
17 | g.74919899C>T | CA400962443 | USH1G | c.937G>A (p.Gly313Ser) c.*536G>A (n.*536G>A) c.628G>A (p.Gly210Ser) | |
17 | g.74919900C>A | CA502036661 | USH1G | c.936G>T (p.Leu312=) c.*535G>T (n.*535G>T) c.627G>T (p.Leu209=) | |
17 | g.74919900C>G | CA502036663 | USH1G | c.936G>C (p.Leu312=) c.*535G>C (n.*535G>C) c.627G>C (p.Leu209=) | |
17 | g.74919900C>T | CA502036664 | USH1G | c.936G>A (p.Leu312=) c.*535G>A (n.*535G>A) c.627G>A (p.Leu209=) | |
17 | g.74919900_74919901delinsCA | CA2275255327 | USH1G | c.935_936delinsTG (p.Leu312=) c.*534_*535delinsTG (n.*534_*535delinsTG) c.626_627delinsTG (p.Leu209=) | |
17 | g.74919901del | CA986277655 | USH1G | c.935del (p.Leu312ArgfsTer11) c.*534del (n.*534del) c.626del (p.Leu209ArgfsTer11) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.74919901A= | CA2275255328 | USH1G | c.935T= (p.Leu312=) c.*534T= (n.*534T=) c.626T= (p.Leu209=) | |
17 | g.74919901A>C | CA400962451 | USH1G | c.935T>G (p.Leu312Arg) c.*534T>G (n.*534T>G) c.626T>G (p.Leu209Arg) | |
17 | g.74919901A>G | CA400962447 | USH1G | c.935T>C (p.Leu312Pro) c.*534T>C (n.*534T>C) c.626T>C (p.Leu209Pro) | dbSNP |
17 | g.74919901A>T | CA400962448 | USH1G | c.935T>A (p.Leu312Gln) c.*534T>A (n.*534T>A) c.626T>A (p.Leu209Gln) | |
17 | g.74919902G>A | CA502036666 | USH1G | c.934C>T (p.Leu312=) c.*533C>T (n.*533C>T) c.625C>T (p.Leu209=) | |
17 | g.74919902G>C | CA400962454 | USH1G | c.934C>G (p.Leu312Val) c.*533C>G (n.*533C>G) c.625C>G (p.Leu209Val) | |
17 | g.74919902G>T | CA400962457 | USH1G | c.934C>A (p.Leu312Met) c.*533C>A (n.*533C>A) c.625C>A (p.Leu209Met) | COSMIC |
17 | g.74919902_74919916delinsGGCCGGGGCGGGTAA | CA2275255329 | USH1G | c.920_934delinsTTACCCGCCCCGGCC (p.Phe307=) c.*519_*533delinsTTACCCGCCCCGGCC (n.*519_*533delinsTTACCCGCCCCGGCC) c.611_625delinsTTACCCGCCCCGGCC (p.Phe204=) | |
17 | g.74919903G>A | CA502036669 | USH1G | c.933C>T (p.Gly311=) c.*532C>T (n.*532C>T) c.624C>T (p.Gly208=) | gnomAD v4 |
17 | g.74919903G>C | CA502036671 | USH1G | c.933C>G (p.Gly311=) c.*532C>G (n.*532C>G) c.624C>G (p.Gly208=) | |
17 | g.74919903G>T | CA502036672 | USH1G | c.933C>A (p.Gly311=) c.*532C>A (n.*532C>A) c.624C>A (p.Gly208=) | ClinVar dbSNP gnomAD v4 |
17 | g.74919903_74919916del | CA2275255330 | USH1G | c.920_933del (p.Phe307SerfsTer?) c.*519_*532del (n.*519_*532del) c.611_624del (p.Phe204SerfsTer?) | dbSNP |
17 | g.74919903_74919916delinsGCCGGGGCGGGTAA | CA2275255331 | USH1G | c.920_933delinsTTACCCGCCCCGGC (p.Phe307=) c.*519_*532delinsTTACCCGCCCCGGC (n.*519_*532delinsTTACCCGCCCCGGC) c.611_624delinsTTACCCGCCCCGGC (p.Phe204=) | |
17 | g.74919904C>A | CA400962460 | USH1G | c.932G>T (p.Gly311Val) c.*531G>T (n.*531G>T) c.623G>T (p.Gly208Val) | |
17 | g.74919904C>G | CA400962463 | USH1G | c.932G>C (p.Gly311Ala) c.*531G>C (n.*531G>C) c.623G>C (p.Gly208Ala) | |
17 | g.74919904C>T | CA400962465 | USH1G | c.932G>A (p.Gly311Asp) c.*531G>A (n.*531G>A) c.623G>A (p.Gly208Asp) | |
17 | g.74919904_74919916del | CA986277659 | USH1G | c.920_932del (p.Phe307SerfsTer12) c.*519_*531del (n.*519_*531del) c.611_623del (p.Phe204SerfsTer12) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.74919905C>A | CA400962474 | USH1G | c.931G>T (p.Gly311Cys) c.*530G>T (n.*530G>T) c.622G>T (p.Gly208Cys) | |
17 | g.74919905C= | CA2275255332 | USH1G | c.931G= (p.Gly311=) c.*530G= (n.*530G=) c.622G= (p.Gly208=) | |
17 | g.74919905C>G | CA400962469 | USH1G | c.931G>C (p.Gly311Arg) c.*530G>C (n.*530G>C) c.622G>C (p.Gly208Arg) | |
17 | g.74919905C>T | CA400962472 | USH1G | c.931G>A (p.Gly311Ser) c.*530G>A (n.*530G>A) c.622G>A (p.Gly208Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.74919906G>A | CA8753966 | USH1G | c.930C>T (p.Pro310=) c.*529C>T (n.*529C>T) c.621C>T (p.Pro207=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.74919906G>C | CA502036679 | USH1G | c.930C>G (p.Pro310=) c.*529C>G (n.*529C>G) c.621C>G (p.Pro207=) | gnomAD v4 |
17 | g.74919906G= | CA2275255333 | USH1G | c.930C= (p.Pro310=) c.*529C= (n.*529C=) c.621C= (p.Pro207=) | |
17 | g.74919906G>T | CA502036680 | USH1G | c.930C>A (p.Pro310=) c.*529C>A (n.*529C>A) c.621C>A (p.Pro207=) | |
17 | g.74919907G>A | CA8753967 | USH1G | c.929C>T (p.Pro310Leu) c.*528C>T (n.*528C>T) c.620C>T (p.Pro207Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.74919907G>C | CA400962483 | USH1G | c.929C>G (p.Pro310Arg) c.*528C>G (n.*528C>G) c.620C>G (p.Pro207Arg) | gnomAD v4 |
17 | g.74919907G= | CA2275255334 | USH1G | c.929C= (p.Pro310=) c.*528C= (n.*528C=) c.620C= (p.Pro207=) | |
17 | g.74919907G>T | CA400962485 | USH1G | c.929C>A (p.Pro310His) c.*528C>A (n.*528C>A) c.620C>A (p.Pro207His) | COSMIC |