| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26477452A>C | CA425359980 | OTOF | c.2370T>G (p.Leu790=) c.129T>G (p.Leu43=) c.300T>G (p.Leu100=) c.2415T>G (p.Leu805=) | |
| 2 | g.26477452A>G | CA425359981 | OTOF | c.2370T>C (p.Leu790=) c.129T>C (p.Leu43=) c.300T>C (p.Leu100=) c.2415T>C (p.Leu805=) | gnomAD v4 |
| 2 | g.26477452A>T | CA425359983 | OTOF | c.2370T>A (p.Leu790=) c.129T>A (p.Leu43=) c.300T>A (p.Leu100=) c.2415T>A (p.Leu805=) | ClinVar |
| 2 | g.26477453A>C | CA346123224 | OTOF | c.2369T>G (p.Leu790Arg) c.128T>G (p.Leu43Arg) c.299T>G (p.Leu100Arg) c.2414T>G (p.Leu805Arg) | gnomAD v4 |
| 2 | g.26477453A>G | CA346123226 | OTOF | c.2369T>C (p.Leu790Pro) c.128T>C (p.Leu43Pro) c.299T>C (p.Leu100Pro) c.2414T>C (p.Leu805Pro) | |
| 2 | g.26477453A>T | CA346123228 | OTOF | c.2369T>A (p.Leu790His) c.128T>A (p.Leu43His) c.299T>A (p.Leu100His) c.2414T>A (p.Leu805His) | |
| 2 | g.26477454G>A | CA346123232 | OTOF | c.2368C>T (p.Leu790Phe) c.127C>T (p.Leu43Phe) c.298C>T (p.Leu100Phe) c.2413C>T (p.Leu805Phe) | gnomAD v4 |
| 2 | g.26477454G>C | CA346123236 | OTOF | c.2368C>G (p.Leu790Val) c.127C>G (p.Leu43Val) c.298C>G (p.Leu100Val) c.2413C>G (p.Leu805Val) | |
| 2 | g.26477454G>T | CA346123238 | OTOF | c.2368C>A (p.Leu790Ile) c.127C>A (p.Leu43Ile) c.298C>A (p.Leu100Ile) c.2413C>A (p.Leu805Ile) | gnomAD v4 |
| 2 | g.26477455C>A | CA346123241 | OTOF | c.2367G>T (p.Arg789Ser) c.126G>T (p.Arg42Ser) c.297G>T (p.Arg99Ser) c.2412G>T (p.Arg804Ser) | gnomAD v4 |
| 2 | g.26477455C= | CA1239830110 | OTOF | c.2367G= (p.Arg789=) c.126G= (p.Arg42=) c.297G= (p.Arg99=) c.2412G= (p.Arg804=) | |
| 2 | g.26477455C>G | CA346123244 | OTOF | c.2367G>C (p.Arg789Ser) c.126G>C (p.Arg42Ser) c.297G>C (p.Arg99Ser) c.2412G>C (p.Arg804Ser) | |
| 2 | g.26477455C>T | CA44398499 | OTOF | c.2367G>A (p.Arg789=) c.126G>A (p.Arg42=) c.297G>A (p.Arg99=) c.2412G>A (p.Arg804=) | dbSNP gnomAD v4 |
| 2 | g.26477456C>A | CA346123247 | OTOF | c.2366G>T (p.Arg789Met) c.125G>T (p.Arg42Met) c.296G>T (p.Arg99Met) c.2411G>T (p.Arg804Met) | gnomAD v4 |
| 2 | g.26477456C>G | CA346123249 | OTOF | c.2366G>C (p.Arg789Thr) c.125G>C (p.Arg42Thr) c.296G>C (p.Arg99Thr) c.2411G>C (p.Arg804Thr) | |
| 2 | g.26477456C>T | CA346123251 | OTOF | c.2366G>A (p.Arg789Lys) c.125G>A (p.Arg42Lys) c.296G>A (p.Arg99Lys) c.2411G>A (p.Arg804Lys) | |
| 2 | g.26477457T>A | CA346123253 | OTOF | c.2365A>T (p.Arg789Trp) c.124A>T (p.Arg42Trp) c.295A>T (p.Arg99Trp) c.2410A>T (p.Arg804Trp) | gnomAD v4 |
| 2 | g.26477457T>C | CA346123256 | OTOF | c.2365A>G (p.Arg789Gly) c.124A>G (p.Arg42Gly) c.295A>G (p.Arg99Gly) c.2410A>G (p.Arg804Gly) | gnomAD v4 |
| 2 | g.26477457T>G | CA425359988 | OTOF | c.2365A>C (p.Arg789=) c.124A>C (p.Arg42=) c.295A>C (p.Arg99=) c.2410A>C (p.Arg804=) | |
| 2 | g.26477458G>A | CA1563940 | OTOF | c.2364C>T (p.Thr788=) c.123C>T (p.Thr41=) c.294C>T (p.Thr98=) c.2409C>T (p.Thr803=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26477458G>C | CA425359989 | OTOF | c.2364C>G (p.Thr788=) c.123C>G (p.Thr41=) c.294C>G (p.Thr98=) c.2409C>G (p.Thr803=) | |
| 2 | g.26477458G= | CA1239830113 | OTOF | c.2364C= (p.Thr788=) c.123C= (p.Thr41=) c.294C= (p.Thr98=) c.2409C= (p.Thr803=) | |
| 2 | g.26477458G>T | CA425359990 | OTOF | c.2364C>A (p.Thr788=) c.123C>A (p.Thr41=) c.294C>A (p.Thr98=) c.2409C>A (p.Thr803=) | gnomAD v4 |
| 2 | g.26477459G>A | CA346123259 | OTOF | c.2363C>T (p.Thr788Ile) c.122C>T (p.Thr41Ile) c.293C>T (p.Thr98Ile) c.2408C>T (p.Thr803Ile) | dbSNP |
| 2 | g.26477459G>C | CA346123260 | OTOF | c.2363C>G (p.Thr788Ser) c.122C>G (p.Thr41Ser) c.293C>G (p.Thr98Ser) c.2408C>G (p.Thr803Ser) | |
| 2 | g.26477459G= | CA1239830114 | OTOF | c.2363C= (p.Thr788=) c.122C= (p.Thr41=) c.293C= (p.Thr98=) c.2408C= (p.Thr803=) | |
| 2 | g.26477459G>T | CA346123261 | OTOF | c.2363C>A (p.Thr788Asn) c.122C>A (p.Thr41Asn) c.293C>A (p.Thr98Asn) c.2408C>A (p.Thr803Asn) | |
| 2 | g.26477460T>A | CA346123263 | OTOF | c.2362A>T (p.Thr788Ser) c.121A>T (p.Thr41Ser) c.292A>T (p.Thr98Ser) c.2407A>T (p.Thr803Ser) | |
| 2 | g.26477460T>C | CA346123267 | OTOF | c.2362A>G (p.Thr788Ala) c.121A>G (p.Thr41Ala) c.292A>G (p.Thr98Ala) c.2407A>G (p.Thr803Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26477460T>G | CA346123269 | OTOF | c.2362A>C (p.Thr788Pro) c.121A>C (p.Thr41Pro) c.292A>C (p.Thr98Pro) c.2407A>C (p.Thr803Pro) | gnomAD v4 |
| 2 | g.26477460T= | CA1239830118 | OTOF | c.2362A= (p.Thr788=) c.121A= (p.Thr41=) c.292A= (p.Thr98=) c.2407A= (p.Thr803=) | |
| 2 | g.26477461G>A | CA1563941 | OTOF | c.2361C>T (p.Arg787=) c.120C>T (p.Arg40=) c.291C>T (p.Arg97=) c.2406C>T (p.Arg802=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26477461G>C | CA425359993 | OTOF | c.2361C>G (p.Arg787=) c.120C>G (p.Arg40=) c.291C>G (p.Arg97=) c.2406C>G (p.Arg802=) | |
| 2 | g.26477461G= | CA1239830120 | OTOF | c.2361C= (p.Arg787=) c.120C= (p.Arg40=) c.291C= (p.Arg97=) c.2406C= (p.Arg802=) | |
| 2 | g.26477461G>T | CA425359992 | OTOF | c.2361C>A (p.Arg787=) c.120C>A (p.Arg40=) c.291C>A (p.Arg97=) c.2406C>A (p.Arg802=) | gnomAD v4 |
| 2 | g.26477462C>A | CA346123274 | OTOF | c.2360G>T (p.Arg787Leu) c.119G>T (p.Arg40Leu) c.290G>T (p.Arg97Leu) c.2405G>T (p.Arg802Leu) | gnomAD v4 |
| 2 | g.26477462C= | CA1239830123 | OTOF | c.2360G= (p.Arg787=) c.119G= (p.Arg40=) c.290G= (p.Arg97=) c.2405G= (p.Arg802=) | |
| 2 | g.26477462C>G | CA346123279 | OTOF | c.2360G>C (p.Arg787Pro) c.119G>C (p.Arg40Pro) c.290G>C (p.Arg97Pro) c.2405G>C (p.Arg802Pro) | |
| 2 | g.26477462C>T | CA44398509 | OTOF | c.2360G>A (p.Arg787His) c.119G>A (p.Arg40His) c.290G>A (p.Arg97His) c.2405G>A (p.Arg802His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26477463G>A | CA1563942 | OTOF | c.2359C>T (p.Arg787Cys) c.118C>T (p.Arg40Cys) c.289C>T (p.Arg97Cys) c.2404C>T (p.Arg802Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.26477463G>C | CA346123289 | OTOF | c.2359C>G (p.Arg787Gly) c.118C>G (p.Arg40Gly) c.289C>G (p.Arg97Gly) c.2404C>G (p.Arg802Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26477463G= | CA1239830132 | OTOF | c.2359C= (p.Arg787=) c.118C= (p.Arg40=) c.289C= (p.Arg97=) c.2404C= (p.Arg802=) | |
| 2 | g.26477463G>T | CA346123287 | OTOF | c.2359C>A (p.Arg787Ser) c.118C>A (p.Arg40Ser) c.289C>A (p.Arg97Ser) c.2404C>A (p.Arg802Ser) | gnomAD v4 |
| 2 | g.26477464G>A | CA425359994 | OTOF | c.2358C>T (p.Ser786=) c.117C>T (p.Ser39=) c.288C>T (p.Ser96=) c.2403C>T (p.Ser801=) | gnomAD v4 |
| 2 | g.26477464G>C | CA425359996 | OTOF | c.2358C>G (p.Ser786=) c.117C>G (p.Ser39=) c.288C>G (p.Ser96=) c.2403C>G (p.Ser801=) | |
| 2 | g.26477464G>T | CA425359997 | OTOF | c.2358C>A (p.Ser786=) c.117C>A (p.Ser39=) c.288C>A (p.Ser96=) c.2403C>A (p.Ser801=) | |
| 2 | g.26477464_26477483dup | CA2740257657 | OTOF | c.2339_2358dup (p.Leu790AlafsTer17) c.98_117dup (p.Leu43AlafsTer17) c.269_288dup (p.Leu100AlafsTer17) c.2384_2403dup (p.Leu805AlafsTer17) | |
| 2 | g.26477465G>A | CA346123292 | OTOF | c.2357C>T (p.Ser786Phe) c.116C>T (p.Ser39Phe) c.287C>T (p.Ser96Phe) c.2402C>T (p.Ser801Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26477465G>C | CA346123297 | OTOF | c.2357C>G (p.Ser786Cys) c.116C>G (p.Ser39Cys) c.287C>G (p.Ser96Cys) c.2402C>G (p.Ser801Cys) | gnomAD v4 |
| 2 | g.26477465G= | CA1239830138 | OTOF | c.2357C= (p.Ser786=) c.116C= (p.Ser39=) c.287C= (p.Ser96=) c.2402C= (p.Ser801=) |