Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.74919463T>A | CA262040 | USH1G | c.1373A>T (p.Asp458Val) c.*972A>T (n.*972A>T) c.1064A>T (p.Asp355Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919463T>C | CA400960999 | USH1G | c.1373A>G (p.Asp458Gly) c.*972A>G (n.*972A>G) c.1064A>G (p.Asp355Gly) | gnomAD v4 |
17 | g.74919463T>G | CA400961000 | USH1G | c.1373A>C (p.Asp458Ala) c.*972A>C (n.*972A>C) c.1064A>C (p.Asp355Ala) | |
17 | g.74919463T= | CA2275255083 | USH1G | c.1373A= (p.Asp458=) c.*972A= (n.*972A=) c.1064A= (p.Asp355=) | |
17 | g.74919464C>A | CA400961001 | USH1G | c.1372G>T (p.Asp458Tyr) c.*971G>T (n.*971G>T) c.1063G>T (p.Asp355Tyr) | |
17 | g.74919464C= | CA2275255084 | USH1G | c.1372G= (p.Asp458=) c.*971G= (n.*971G=) c.1063G= (p.Asp355=) | |
17 | g.74919464C>G | CA400961002 | USH1G | c.1372G>C (p.Asp458His) c.*971G>C (n.*971G>C) c.1063G>C (p.Asp355His) | |
17 | g.74919464C>T | CA400961003 | USH1G | c.1372G>A (p.Asp458Asn) c.*971G>A (n.*971G>A) c.1063G>A (p.Asp355Asn) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.74919465C>A | CA400961004 | USH1G | c.1371G>T (p.Glu457Asp) c.*970G>T (n.*970G>T) c.1062G>T (p.Glu354Asp) | gnomAD v4 |
17 | g.74919465C= | CA2275255085 | USH1G | c.1371G= (p.Glu457=) c.*970G= (n.*970G=) c.1062G= (p.Glu354=) | |
17 | g.74919465C>G | CA400961005 | USH1G | c.1371G>C (p.Glu457Asp) c.*970G>C (n.*970G>C) c.1062G>C (p.Glu354Asp) | |
17 | g.74919465C>T | CA8753876 | USH1G | c.1371G>A (p.Glu457=) c.*970G>A (n.*970G>A) c.1062G>A (p.Glu354=) | dbSNP ExAC gnomAD v2 |
17 | g.74919466T>A | CA400961006 | USH1G | c.1370A>T (p.Glu457Val) c.*969A>T (n.*969A>T) c.1061A>T (p.Glu354Val) | |
17 | g.74919466T>C | CA400961007 | USH1G | c.1370A>G (p.Glu457Gly) c.*969A>G (n.*969A>G) c.1061A>G (p.Glu354Gly) | gnomAD v4 |
17 | g.74919466T>G | CA400961008 | USH1G | c.1370A>C (p.Glu457Ala) c.*969A>C (n.*969A>C) c.1061A>C (p.Glu354Ala) | |
17 | g.74919467C>A | CA400961009 | USH1G | c.1369G>T (p.Glu457Ter) c.*968G>T (n.*968G>T) c.1060G>T (p.Glu354Ter) | gnomAD v4 |
17 | g.74919467C= | CA2275255086 | USH1G | c.1369G= (p.Glu457=) c.*968G= (n.*968G=) c.1060G= (p.Glu354=) | |
17 | g.74919467C>G | CA400961010 | USH1G | c.1369G>C (p.Glu457Gln) c.*968G>C (n.*968G>C) c.1060G>C (p.Glu354Gln) | |
17 | g.74919467C>T | CA400961011 | USH1G | c.1369G>A (p.Glu457Lys) c.*968G>A (n.*968G>A) c.1060G>A (p.Glu354Lys) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.74919468C>A | CA502036335 | USH1G | c.1368G>T (p.Leu456=) c.*967G>T (n.*967G>T) c.1059G>T (p.Leu353=) | |
17 | g.74919468C= | CA2275255087 | USH1G | c.1368G= (p.Leu456=) c.*967G= (n.*967G=) c.1059G= (p.Leu353=) | |
17 | g.74919468C>G | CA502036336 | USH1G | c.1368G>C (p.Leu456=) c.*967G>C (n.*967G>C) c.1059G>C (p.Leu353=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919468C>T | CA502036337 | USH1G | c.1368G>A (p.Leu456=) c.*967G>A (n.*967G>A) c.1059G>A (p.Leu353=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.74919469A>C | CA400961012 | USH1G | c.1367T>G (p.Leu456Arg) c.*966T>G (n.*966T>G) c.1058T>G (p.Leu353Arg) | COSMIC |
17 | g.74919469A>G | CA400961013 | USH1G | c.1367T>C (p.Leu456Pro) c.*966T>C (n.*966T>C) c.1058T>C (p.Leu353Pro) | COSMIC |
17 | g.74919469A>T | CA400961014 | USH1G | c.1367T>A (p.Leu456Gln) c.*966T>A (n.*966T>A) c.1058T>A (p.Leu353Gln) | |
17 | g.74919470G>A | CA502036338 | USH1G | c.1366C>T (p.Leu456=) c.*965C>T (n.*965C>T) c.1057C>T (p.Leu353=) | |
17 | g.74919470G>C | CA400961015 | USH1G | c.1366C>G (p.Leu456Val) c.*965C>G (n.*965C>G) c.1057C>G (p.Leu353Val) | COSMIC |
17 | g.74919470G>T | CA400961016 | USH1G | c.1366C>A (p.Leu456Met) c.*965C>A (n.*965C>A) c.1057C>A (p.Leu353Met) | |
17 | g.74919474_74919481del | CA2639746878 | USH1G | c.1359_1366del (p.Pro454GlyfsTer?) c.*958_*965del (n.*958_*965del) c.1050_1057del (p.Pro351GlyfsTer?) | gnomAD v4 |
17 | g.74919471G>A | CA502036339 | USH1G | c.1365C>T (p.Ala455=) c.*964C>T (n.*964C>T) c.1056C>T (p.Ala352=) | gnomAD v4 |
17 | g.74919471G>C | CA502036340 | USH1G | c.1365C>G (p.Ala455=) c.*964C>G (n.*964C>G) c.1056C>G (p.Ala352=) | |
17 | g.74919471G= | CA2275255088 | USH1G | c.1365C= (p.Ala455=) c.*964C= (n.*964C=) c.1056C= (p.Ala352=) | |
17 | g.74919471G>T | CA502036341 | USH1G | c.1365C>A (p.Ala455=) c.*964C>A (n.*964C>A) c.1056C>A (p.Ala352=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.74919472G>A | CA400961018 | USH1G | c.1364C>T (p.Ala455Val) c.*963C>T (n.*963C>T) c.1055C>T (p.Ala352Val) | ClinVar dbSNP |
17 | g.74919472G>C | CA400961019 | USH1G | c.1364C>G (p.Ala455Gly) c.*963C>G (n.*963C>G) c.1055C>G (p.Ala352Gly) | dbSNP |
17 | g.74919472G= | CA2275255089 | USH1G | c.1364C= (p.Ala455=) c.*963C= (n.*963C=) c.1055C= (p.Ala352=) | |
17 | g.74919472G>T | CA400961017 | USH1G | c.1364C>A (p.Ala455Asp) c.*963C>A (n.*963C>A) c.1055C>A (p.Ala352Asp) | |
17 | g.74919473C>A | CA400961020 | USH1G | c.1363G>T (p.Ala455Ser) c.*962G>T (n.*962G>T) c.1054G>T (p.Ala352Ser) | |
17 | g.74919473C>G | CA400961021 | USH1G | c.1363G>C (p.Ala455Pro) c.*962G>C (n.*962G>C) c.1054G>C (p.Ala352Pro) | |
17 | g.74919473C>T | CA400961022 | USH1G | c.1363G>A (p.Ala455Thr) c.*962G>A (n.*962G>A) c.1054G>A (p.Ala352Thr) | |
17 | g.74919474C>A | CA502036342 | USH1G | c.1362G>T (p.Pro454=) c.*961G>T (n.*961G>T) c.1053G>T (p.Pro351=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.74919474C= | CA2275255090 | USH1G | c.1362G= (p.Pro454=) c.*961G= (n.*961G=) c.1053G= (p.Pro351=) | |
17 | g.74919474C>G | CA502036343 | USH1G | c.1362G>C (p.Pro454=) c.*961G>C (n.*961G>C) c.1053G>C (p.Pro351=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.74919474C>T | CA502036344 | USH1G | c.1362G>A (p.Pro454=) c.*961G>A (n.*961G>A) c.1053G>A (p.Pro351=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.74919475G>A | CA8753877 | USH1G | c.1361C>T (p.Pro454Leu) c.*960C>T (n.*960C>T) c.1052C>T (p.Pro351Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.74919475G>C | CA10603929 | USH1G | c.1361C>G (p.Pro454Arg) c.*960C>G (n.*960C>G) c.1052C>G (p.Pro351Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919475G= | CA2275255091 | USH1G | c.1361C= (p.Pro454=) c.*960C= (n.*960C=) c.1052C= (p.Pro351=) | |
17 | g.74919475G>T | CA400961023 | USH1G | c.1361C>A (p.Pro454Gln) c.*960C>A (n.*960C>A) c.1052C>A (p.Pro351Gln) | dbSNP gnomAD v4 |
17 | g.74919476G>A | CA400961024 | USH1G | c.1360C>T (p.Pro454Ser) c.*959C>T (n.*959C>T) c.1051C>T (p.Pro351Ser) | dbSNP |