Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.74919884G>A | CA400962343 | USH1G | c.952C>T (p.Arg318Cys) c.*551C>T (n.*551C>T) c.643C>T (p.Arg215Cys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.74919884G>C | CA400962345 | USH1G | c.952C>G (p.Arg318Gly) c.*551C>G (n.*551C>G) c.643C>G (p.Arg215Gly) | |
17 | g.74919884G= | CA2275255317 | USH1G | c.952C= (p.Arg318=) c.*551C= (n.*551C=) c.643C= (p.Arg215=) | |
17 | g.74919884G>T | CA293983914 | USH1G | c.952C>A (p.Arg318Ser) c.*551C>A (n.*551C>A) c.643C>A (p.Arg215Ser) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.74919885G>A | CA502036638 | USH1G | c.951C>T (p.Phe317=) c.*550C>T (n.*550C>T) c.642C>T (p.Phe214=) | gnomAD v4 |
17 | g.74919885G>C | CA400962347 | USH1G | c.951C>G (p.Phe317Leu) c.*550C>G (n.*550C>G) c.642C>G (p.Phe214Leu) | |
17 | g.74919885G>T | CA400962349 | USH1G | c.951C>A (p.Phe317Leu) c.*550C>A (n.*550C>A) c.642C>A (p.Phe214Leu) | |
17 | g.74919886A>C | CA400962352 | USH1G | c.950T>G (p.Phe317Cys) c.*549T>G (n.*549T>G) c.641T>G (p.Phe214Cys) | |
17 | g.74919886A>G | CA400962354 | USH1G | c.950T>C (p.Phe317Ser) c.*549T>C (n.*549T>C) c.641T>C (p.Phe214Ser) | |
17 | g.74919886A>T | CA400962356 | USH1G | c.950T>A (p.Phe317Tyr) c.*549T>A (n.*549T>A) c.641T>A (p.Phe214Tyr) | |
17 | g.74919887A= | CA2275255318 | USH1G | c.949T= (p.Phe317=) c.*548T= (n.*548T=) c.640T= (p.Phe214=) | |
17 | g.74919887A>C | CA400962360 | USH1G | c.949T>G (p.Phe317Val) c.*548T>G (n.*548T>G) c.640T>G (p.Phe214Val) | |
17 | g.74919887A>G | CA400962362 | USH1G | c.949T>C (p.Phe317Leu) c.*548T>C (n.*548T>C) c.640T>C (p.Phe214Leu) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.74919887A>T | CA400962365 | USH1G | c.949T>A (p.Phe317Ile) c.*548T>A (n.*548T>A) c.640T>A (p.Phe214Ile) | |
17 | g.74919888C>A | CA502036644 | USH1G | c.948G>T (p.Val316=) c.*547G>T (n.*547G>T) c.639G>T (p.Val213=) | gnomAD v4 |
17 | g.74919888C= | CA2275255319 | USH1G | c.948G= (p.Val316=) c.*547G= (n.*547G=) c.639G= (p.Val213=) | |
17 | g.74919888C>G | CA502036643 | USH1G | c.948G>C (p.Val316=) c.*547G>C (n.*547G>C) c.639G>C (p.Val213=) | |
17 | g.74919888C>T | CA8753963 | USH1G | c.948G>A (p.Val316=) c.*547G>A (n.*547G>A) c.639G>A (p.Val213=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.74919889A= | CA2275255320 | USH1G | c.947T= (p.Val316=) c.*546T= (n.*546T=) c.638T= (p.Val213=) | |
17 | g.74919889A>C | CA400962371 | USH1G | c.947T>G (p.Val316Gly) c.*546T>G (n.*546T>G) c.638T>G (p.Val213Gly) | |
17 | g.74919889A>G | CA400962373 | USH1G | c.947T>C (p.Val316Ala) c.*546T>C (n.*546T>C) c.638T>C (p.Val213Ala) | dbSNP |
17 | g.74919889A>T | CA8753964 | USH1G | c.947T>A (p.Val316Glu) c.*546T>A (n.*546T>A) c.638T>A (p.Val213Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.74919890C>A | CA400962382 | USH1G | c.946G>T (p.Val316Leu) c.*545G>T (n.*545G>T) c.637G>T (p.Val213Leu) | |
17 | g.74919890C>G | CA400962384 | USH1G | c.946G>C (p.Val316Leu) c.*545G>C (n.*545G>C) c.637G>C (p.Val213Leu) | |
17 | g.74919890C>T | CA400962379 | USH1G | c.946G>A (p.Val316Met) c.*545G>A (n.*545G>A) c.637G>A (p.Val213Met) | gnomAD v4 |
17 | g.74919891C>A | CA400962387 | USH1G | c.945G>T (p.Met315Ile) c.*544G>T (n.*544G>T) c.636G>T (p.Met212Ile) | |
17 | g.74919891C>G | CA400962390 | USH1G | c.945G>C (p.Met315Ile) c.*544G>C (n.*544G>C) c.636G>C (p.Met212Ile) | |
17 | g.74919891C>T | CA400962391 | USH1G | c.945G>A (p.Met315Ile) c.*544G>A (n.*544G>A) c.636G>A (p.Met212Ile) | gnomAD v4 |
17 | g.74919892A= | CA2275255321 | USH1G | c.944T= (p.Met315=) c.*543T= (n.*543T=) c.635T= (p.Met212=) | |
17 | g.74919892A>C | CA400962393 | USH1G | c.944T>G (p.Met315Arg) c.*543T>G (n.*543T>G) c.635T>G (p.Met212Arg) | |
17 | g.74919892A>G | CA400962395 | USH1G | c.944T>C (p.Met315Thr) c.*543T>C (n.*543T>C) c.635T>C (p.Met212Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919892A>T | CA400962397 | USH1G | c.944T>A (p.Met315Lys) c.*543T>A (n.*543T>A) c.635T>A (p.Met212Lys) | |
17 | g.74919893T>A | CA400962401 | USH1G | c.943A>T (p.Met315Leu) c.*542A>T (n.*542A>T) c.634A>T (p.Met212Leu) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.74919893T>C | CA400962407 | USH1G | c.943A>G (p.Met315Val) c.*542A>G (n.*542A>G) c.634A>G (p.Met212Val) | |
17 | g.74919893T>G | CA400962404 | USH1G | c.943A>C (p.Met315Leu) c.*542A>C (n.*542A>C) c.634A>C (p.Met212Leu) | |
17 | g.74919893T= | CA2275255322 | USH1G | c.943A= (p.Met315=) c.*542A= (n.*542A=) c.634A= (p.Met212=) | |
17 | g.74919894G>A | CA502036652 | USH1G | c.942C>T (p.Thr314=) c.*541C>T (n.*541C>T) c.633C>T (p.Thr211=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.74919894G>C | CA502036653 | USH1G | c.942C>G (p.Thr314=) c.*541C>G (n.*541C>G) c.633C>G (p.Thr211=) | |
17 | g.74919894G= | CA2275255323 | USH1G | c.942C= (p.Thr314=) c.*541C= (n.*541C=) c.633C= (p.Thr211=) | |
17 | g.74919894G>T | CA8753965 | USH1G | c.942C>A (p.Thr314=) c.*541C>A (n.*541C>A) c.633C>A (p.Thr211=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.74919895G>A | CA400962412 | USH1G | c.941C>T (p.Thr314Ile) c.*540C>T (n.*540C>T) c.632C>T (p.Thr211Ile) | gnomAD v4 |
17 | g.74919895G>C | CA400962415 | USH1G | c.941C>G (p.Thr314Ser) c.*540C>G (n.*540C>G) c.632C>G (p.Thr211Ser) | |
17 | g.74919895G>T | CA400962417 | USH1G | c.941C>A (p.Thr314Asn) c.*540C>A (n.*540C>A) c.632C>A (p.Thr211Asn) | gnomAD v4 |
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=) |