Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
17 | g.74919908G>A | CA400962488 | USH1G | c.928C>T (p.Pro310Ser) c.*527C>T (n.*527C>T) c.619C>T (p.Pro207Ser) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.74919908G>C | CA400962491 | USH1G | c.928C>G (p.Pro310Ala) c.*527C>G (n.*527C>G) c.619C>G (p.Pro207Ala) | |
17 | g.74919908G= | CA2275255335 | USH1G | c.928C= (p.Pro310=) c.*527C= (n.*527C=) c.619C= (p.Pro207=) | |
17 | g.74919908G>T | CA400962494 | USH1G | c.928C>A (p.Pro310Thr) c.*527C>A (n.*527C>A) c.619C>A (p.Pro207Thr) | |
17 | g.74919909G>A | CA502036686 | USH1G | c.927C>T (p.Arg309=) c.*526C>T (n.*526C>T) c.618C>T (p.Arg206=) | |
17 | g.74919909G>C | CA502036685 | USH1G | c.927C>G (p.Arg309=) c.*526C>G (n.*526C>G) c.618C>G (p.Arg206=) | gnomAD v4 |
17 | g.74919909G>T | CA502036684 | USH1G | c.927C>A (p.Arg309=) c.*526C>A (n.*526C>A) c.618C>A (p.Arg206=) | |
17 | g.74919910C>A | CA8753968 | USH1G | c.926G>T (p.Arg309Leu) c.*525G>T (n.*525G>T) c.617G>T (p.Arg206Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919910C= | CA2275255336 | USH1G | c.926G= (p.Arg309=) c.*525G= (n.*525G=) c.617G= (p.Arg206=) | |
17 | g.74919910C>G | CA400962498 | USH1G | c.926G>C (p.Arg309Pro) c.*525G>C (n.*525G>C) c.617G>C (p.Arg206Pro) | |
17 | g.74919910C>T | CA400962500 | USH1G | c.926G>A (p.Arg309His) c.*525G>A (n.*525G>A) c.617G>A (p.Arg206His) | |
17 | g.74919911G>A | CA10577042 | USH1G | c.925C>T (p.Arg309Cys) c.*524C>T (n.*524C>T) c.616C>T (p.Arg206Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.74919911G>C | CA400962505 | USH1G | c.925C>G (p.Arg309Gly) c.*524C>G (n.*524C>G) c.616C>G (p.Arg206Gly) | |
17 | g.74919911G= | CA2275255337 | USH1G | c.925C= (p.Arg309=) c.*524C= (n.*524C=) c.616C= (p.Arg206=) | |
17 | g.74919911G>T | CA400962508 | USH1G | c.925C>A (p.Arg309Ser) c.*524C>A (n.*524C>A) c.616C>A (p.Arg206Ser) | |
17 | g.74919912G>A | CA502036694 | USH1G | c.924C>T (p.Thr308=) c.*523C>T (n.*523C>T) c.615C>T (p.Thr205=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.74919912G>C | CA502036695 | USH1G | c.924C>G (p.Thr308=) c.*523C>G (n.*523C>G) c.615C>G (p.Thr205=) | |
17 | g.74919912G= | CA2275255338 | USH1G | c.924C= (p.Thr308=) c.*523C= (n.*523C=) c.615C= (p.Thr205=) | |
17 | g.74919912G>T | CA502036696 | USH1G | c.924C>A (p.Thr308=) c.*523C>A (n.*523C>A) c.615C>A (p.Thr205=) |