Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.89279298_89279319delinsAGCGTCTGCTGGATCACCTCCC | CA2241586622 | ANKRD11 | c.7223_7244delinsGGGAGGTGATCCAGCAGACGCT (p.Arg2408=) c.*7026_*7047delinsGGGAGGTGATCCAGCAGACGCT (n.*7026_*7047delinsGGGAGGTGATCCAGCAGACGCT) c.745-4128_745-4107delinsGGGAGGTGATCCAGCAGACGCT (n.745-4128_745-4107delinsGGGAGGTGATCCAGCAGACGCT) c.152-4128_152-4107delinsGGGAGGTGATCCAGCAGACGCT n.398_419delinsGGGAGGTGATCCAGCAGACGCT c.7121_7142delinsGGGAGGTGATCCAGCAGACGCT (p.Arg2374=) c.6926_6947delinsGGGAGGTGATCCAGCAGACGCT (p.Arg2309=) c.7094_7115delinsGGGAGGTGATCCAGCAGACGCT (p.Arg2365=) | |
16 | g.89279309_89279329dup | CA2241586623 | ANKRD11 | c.7223_7243dup (p.Thr2414_Leu2415insArgGluValIleGlnGlnThr) c.*7026_*7046dup (n.*7026_*7046dup) c.745-4128_745-4108dup (n.745-4128_745-4108dup) c.152-4128_152-4108dup n.398_418dup c.7121_7141dup (p.Thr2380_Leu2381insArgGluValIleGlnGlnThr) c.6926_6946dup (p.Thr2315_Leu2316insArgGluValIleGlnGlnThr) c.7094_7114dup (p.Thr2371_Leu2372insArgGluValIleGlnGlnThr) | ClinVar dbSNP gnomAD v4 |
16 | g.89279309_89279329del | CA725702311 | ANKRD11 | c.7223_7243del (p.Arg2408_Thr2414del) c.*7026_*7046del (n.*7026_*7046del) c.745-4128_745-4108del (n.745-4128_745-4108del) c.152-4128_152-4108del n.398_418del c.7121_7141del (p.Arg2374_Thr2380del) c.6926_6946del (p.Arg2309_Thr2315del) c.7094_7114del (p.Arg2365_Thr2371del) | dbSNP gnomAD v4 |
16 | g.89279310A>C | CA397148848 | ANKRD11 | c.7232T>G (p.Ile2411Ser) c.*7035T>G (n.*7035T>G) c.745-4119T>G (n.745-4119T>G) c.152-4119T>G n.407T>G c.7130T>G (p.Ile2377Ser) c.6935T>G (p.Ile2312Ser) c.7103T>G (p.Ile2368Ser) | |
16 | g.89279310A>G | CA397148845 | ANKRD11 | c.7232T>C (p.Ile2411Thr) c.*7035T>C (n.*7035T>C) c.745-4119T>C (n.745-4119T>C) c.152-4119T>C n.407T>C c.7130T>C (p.Ile2377Thr) c.6935T>C (p.Ile2312Thr) c.7103T>C (p.Ile2368Thr) | gnomAD v4 |
16 | g.89279310A>T | CA397148846 | ANKRD11 | c.7232T>A (p.Ile2411Asn) c.*7035T>A (n.*7035T>A) c.745-4119T>A (n.745-4119T>A) c.152-4119T>A n.407T>A c.7130T>A (p.Ile2377Asn) c.6935T>A (p.Ile2312Asn) c.7103T>A (p.Ile2368Asn) | |
16 | g.89279310_89279330dup | CA8241270 | ANKRD11 | c.7212_7232dup (p.Val2410_Ile2411insMetGlnGlnThrArgGluVal) c.*7015_*7035dup (n.*7015_*7035dup) c.745-4139_745-4119dup (n.745-4139_745-4119dup) c.152-4139_152-4119dup n.387_407dup c.7110_7130dup (p.Val2376_Ile2377insMetGlnGlnThrArgGluVal) c.6915_6935dup (p.Val2311_Ile2312insMetGlnGlnThrArgGluVal) c.7083_7103dup (p.Val2367_Ile2368insMetGlnGlnThrArgGluVal) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
16 | g.89279311T>A | CA397148850 | ANKRD11 | c.7231A>T (p.Ile2411Phe) c.*7034A>T (n.*7034A>T) c.745-4120A>T (n.745-4120A>T) c.152-4120A>T n.406A>T c.7129A>T (p.Ile2377Phe) c.6934A>T (p.Ile2312Phe) c.7102A>T (p.Ile2368Phe) | |
16 | g.89279311T>C | CA8241272 | ANKRD11 | c.7231A>G (p.Ile2411Val) c.*7034A>G (n.*7034A>G) c.745-4120A>G (n.745-4120A>G) c.152-4120A>G n.406A>G c.7129A>G (p.Ile2377Val) c.6934A>G (p.Ile2312Val) c.7102A>G (p.Ile2368Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279311T>G | CA397148851 | ANKRD11 | c.7231A>C (p.Ile2411Leu) c.*7034A>C (n.*7034A>C) c.745-4120A>C (n.745-4120A>C) c.152-4120A>C n.406A>C c.7129A>C (p.Ile2377Leu) c.6934A>C (p.Ile2312Leu) c.7102A>C (p.Ile2368Leu) | |
16 | g.89279311T= | CA2241586630 | ANKRD11 | c.7231A= (p.Ile2411=) c.*7034A= (n.*7034A=) c.745-4120A= (n.745-4120A=) c.152-4120A= n.406A= c.7129A= (p.Ile2377=) c.6934A= (p.Ile2312=) c.7102A= (p.Ile2368=) | |
16 | g.89279312C>A | CA497372454 | ANKRD11 | c.7230G>T (p.Val2410=) c.*7033G>T (n.*7033G>T) c.745-4121G>T (n.745-4121G>T) c.152-4121G>T n.405G>T c.7128G>T (p.Val2376=) c.6933G>T (p.Val2311=) c.7101G>T (p.Val2367=) | |
16 | g.89279312C= | CA2241586631 | ANKRD11 | c.7230G= (p.Val2410=) c.*7033G= (n.*7033G=) c.745-4121G= (n.745-4121G=) c.152-4121G= n.405G= c.7128G= (p.Val2376=) c.6933G= (p.Val2311=) c.7101G= (p.Val2367=) | |
16 | g.89279312C>G | CA497372455 | ANKRD11 | c.7230G>C (p.Val2410=) c.*7033G>C (n.*7033G>C) c.745-4121G>C (n.745-4121G>C) c.152-4121G>C n.405G>C c.7128G>C (p.Val2376=) c.6933G>C (p.Val2311=) c.7101G>C (p.Val2367=) | |
16 | g.89279312C>T | CA497372456 | ANKRD11 | c.7230G>A (p.Val2410=) c.*7033G>A (n.*7033G>A) c.745-4121G>A (n.745-4121G>A) c.152-4121G>A n.405G>A c.7128G>A (p.Val2376=) c.6933G>A (p.Val2311=) c.7101G>A (p.Val2367=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89279313A= | CA2241586632 | ANKRD11 | c.7229T= (p.Val2410=) c.*7032T= (n.*7032T=) c.745-4122T= (n.745-4122T=) c.152-4122T= n.404T= c.7127T= (p.Val2376=) c.6932T= (p.Val2311=) c.7100T= (p.Val2367=) | |
16 | g.89279313A>C | CA397148854 | ANKRD11 | c.7229T>G (p.Val2410Gly) c.*7032T>G (n.*7032T>G) c.745-4122T>G (n.745-4122T>G) c.152-4122T>G n.404T>G c.7127T>G (p.Val2376Gly) c.6932T>G (p.Val2311Gly) c.7100T>G (p.Val2367Gly) | dbSNP |
16 | g.89279313A>G | CA397148855 | ANKRD11 | c.7229T>C (p.Val2410Ala) c.*7032T>C (n.*7032T>C) c.745-4122T>C (n.745-4122T>C) c.152-4122T>C n.404T>C c.7127T>C (p.Val2376Ala) c.6932T>C (p.Val2311Ala) c.7100T>C (p.Val2367Ala) | |
16 | g.89279313A>T | CA397148856 | ANKRD11 | c.7229T>A (p.Val2410Glu) c.*7032T>A (n.*7032T>A) c.745-4122T>A (n.745-4122T>A) c.152-4122T>A n.404T>A c.7127T>A (p.Val2376Glu) c.6932T>A (p.Val2311Glu) c.7100T>A (p.Val2367Glu) | |
16 | g.89279314C>A | CA397148858 | ANKRD11 | c.7228G>T (p.Val2410Leu) c.*7031G>T (n.*7031G>T) c.745-4123G>T (n.745-4123G>T) c.152-4123G>T n.403G>T c.7126G>T (p.Val2376Leu) c.6931G>T (p.Val2311Leu) c.7099G>T (p.Val2367Leu) | |
16 | g.89279314C>G | CA397148860 | ANKRD11 | c.7228G>C (p.Val2410Leu) c.*7031G>C (n.*7031G>C) c.745-4123G>C (n.745-4123G>C) c.152-4123G>C n.403G>C c.7126G>C (p.Val2376Leu) c.6931G>C (p.Val2311Leu) c.7099G>C (p.Val2367Leu) | |
16 | g.89279314C>T | CA397148862 | ANKRD11 | c.7228G>A (p.Val2410Met) c.*7031G>A (n.*7031G>A) c.745-4123G>A (n.745-4123G>A) c.152-4123G>A n.403G>A c.7126G>A (p.Val2376Met) c.6931G>A (p.Val2311Met) c.7099G>A (p.Val2367Met) | ClinVar |
16 | g.89279315C>A | CA397148864 | ANKRD11 | c.7227G>T (p.Glu2409Asp) c.*7030G>T (n.*7030G>T) c.745-4124G>T (n.745-4124G>T) c.152-4124G>T n.402G>T c.7125G>T (p.Glu2375Asp) c.6930G>T (p.Glu2310Asp) c.7098G>T (p.Glu2366Asp) | |
16 | g.89279315C= | CA2241586633 | ANKRD11 | c.7227G= (p.Glu2409=) c.*7030G= (n.*7030G=) c.745-4124G= (n.745-4124G=) c.152-4124G= n.402G= c.7125G= (p.Glu2375=) c.6930G= (p.Glu2310=) c.7098G= (p.Glu2366=) | |
16 | g.89279315C>G | CA397148866 | ANKRD11 | c.7227G>C (p.Glu2409Asp) c.*7030G>C (n.*7030G>C) c.745-4124G>C (n.745-4124G>C) c.152-4124G>C n.402G>C c.7125G>C (p.Glu2375Asp) c.6930G>C (p.Glu2310Asp) c.7098G>C (p.Glu2366Asp) | |
16 | g.89279315C>T | CA8241273 | ANKRD11 | c.7227G>A (p.Glu2409=) c.*7030G>A (n.*7030G>A) c.745-4124G>A (n.745-4124G>A) c.152-4124G>A n.402G>A c.7125G>A (p.Glu2375=) c.6930G>A (p.Glu2310=) c.7098G>A (p.Glu2366=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279316T>A | CA397148870 | ANKRD11 | c.7226A>T (p.Glu2409Val) c.*7029A>T (n.*7029A>T) c.745-4125A>T (n.745-4125A>T) c.152-4125A>T n.401A>T c.7124A>T (p.Glu2375Val) c.6929A>T (p.Glu2310Val) c.7097A>T (p.Glu2366Val) | |
16 | g.89279316T>C | CA397148872 | ANKRD11 | c.7226A>G (p.Glu2409Gly) c.*7029A>G (n.*7029A>G) c.745-4125A>G (n.745-4125A>G) c.152-4125A>G n.401A>G c.7124A>G (p.Glu2375Gly) c.6929A>G (p.Glu2310Gly) c.7097A>G (p.Glu2366Gly) | |
16 | g.89279316T>G | CA397148873 | ANKRD11 | c.7226A>C (p.Glu2409Ala) c.*7029A>C (n.*7029A>C) c.745-4125A>C (n.745-4125A>C) c.152-4125A>C n.401A>C c.7124A>C (p.Glu2375Ala) c.6929A>C (p.Glu2310Ala) c.7097A>C (p.Glu2366Ala) | |
16 | g.89279316_89279320delinsCCCC | CA2580092262 | ANKRD11 | c.7222_7226delinsGGGG (p.Arg2408GlyfsTer3) c.*7025_*7029delinsGGGG (n.*7025_*7029delinsGGGG) c.745-4129_745-4125delinsGGGG (n.745-4129_745-4125delinsGGGG) c.152-4129_152-4125delinsGGGG n.397_401delinsGGGG c.7120_7124delinsGGGG (p.Arg2374GlyfsTer3) c.6925_6929delinsGGGG (p.Arg2309GlyfsTer3) c.7093_7097delinsGGGG (p.Arg2365GlyfsTer3) | ClinVar dbSNP |
16 | g.89279317C>A | CA397148877 | ANKRD11 | c.7225G>T (p.Glu2409Ter) c.*7028G>T (n.*7028G>T) c.745-4126G>T (n.745-4126G>T) c.152-4126G>T n.400G>T c.7123G>T (p.Glu2375Ter) c.6928G>T (p.Glu2310Ter) c.7096G>T (p.Glu2366Ter) | ClinVar |
16 | g.89279317C>G | CA397148878 | ANKRD11 | c.7225G>C (p.Glu2409Gln) c.*7028G>C (n.*7028G>C) c.745-4126G>C (n.745-4126G>C) c.152-4126G>C n.400G>C c.7123G>C (p.Glu2375Gln) c.6928G>C (p.Glu2310Gln) c.7096G>C (p.Glu2366Gln) | |
16 | g.89279317C>T | CA397148875 | ANKRD11 | c.7225G>A (p.Glu2409Lys) c.*7028G>A (n.*7028G>A) c.745-4126G>A (n.745-4126G>A) c.152-4126G>A n.400G>A c.7123G>A (p.Glu2375Lys) c.6928G>A (p.Glu2310Lys) c.7096G>A (p.Glu2366Lys) | |
16 | g.89279318C>A | CA497372466 | ANKRD11 | c.7224G>T (p.Arg2408=) c.*7027G>T (n.*7027G>T) c.745-4127G>T (n.745-4127G>T) c.152-4127G>T n.399G>T c.7122G>T (p.Arg2374=) c.6927G>T (p.Arg2309=) c.7095G>T (p.Arg2365=) | |
16 | g.89279318C= | CA2241586634 | ANKRD11 | c.7224G= (p.Arg2408=) c.*7027G= (n.*7027G=) c.745-4127G= (n.745-4127G=) c.152-4127G= n.399G= c.7122G= (p.Arg2374=) c.6927G= (p.Arg2309=) c.7095G= (p.Arg2365=) | |
16 | g.89279318C>G | CA497372465 | ANKRD11 | c.7224G>C (p.Arg2408=) c.*7027G>C (n.*7027G>C) c.745-4127G>C (n.745-4127G>C) c.152-4127G>C n.399G>C c.7122G>C (p.Arg2374=) c.6927G>C (p.Arg2309=) c.7095G>C (p.Arg2365=) | |
16 | g.89279318C>T | CA8241274 | ANKRD11 | c.7224G>A (p.Arg2408=) c.*7027G>A (n.*7027G>A) c.745-4127G>A (n.745-4127G>A) c.152-4127G>A n.399G>A c.7122G>A (p.Arg2374=) c.6927G>A (p.Arg2309=) c.7095G>A (p.Arg2365=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89279319C>A | CA397148879 | ANKRD11 | c.7223G>T (p.Arg2408Leu) c.*7026G>T (n.*7026G>T) c.745-4128G>T (n.745-4128G>T) c.152-4128G>T n.398G>T c.7121G>T (p.Arg2374Leu) c.6926G>T (p.Arg2309Leu) c.7094G>T (p.Arg2365Leu) | gnomAD v4 |
16 | g.89279319C= | CA2241586635 | ANKRD11 | c.7223G= (p.Arg2408=) c.*7026G= (n.*7026G=) c.745-4128G= (n.745-4128G=) c.152-4128G= n.398G= c.7121G= (p.Arg2374=) c.6926G= (p.Arg2309=) c.7094G= (p.Arg2365=) | |
16 | g.89279319C>G | CA8241275 | ANKRD11 | c.7223G>C (p.Arg2408Pro) c.*7026G>C (n.*7026G>C) c.745-4128G>C (n.745-4128G>C) c.152-4128G>C n.398G>C c.7121G>C (p.Arg2374Pro) c.6926G>C (p.Arg2309Pro) c.7094G>C (p.Arg2365Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89279319C>T | CA397148881 | ANKRD11 | c.7223G>A (p.Arg2408Gln) c.*7026G>A (n.*7026G>A) c.745-4128G>A (n.745-4128G>A) c.152-4128G>A n.398G>A c.7121G>A (p.Arg2374Gln) c.6926G>A (p.Arg2309Gln) c.7094G>A (p.Arg2365Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279320G>A | CA397148884 | ANKRD11 | c.7222C>T (p.Arg2408Trp) c.*7025C>T (n.*7025C>T) c.745-4129C>T (n.745-4129C>T) c.152-4129C>T n.397C>T c.7120C>T (p.Arg2374Trp) c.6925C>T (p.Arg2309Trp) c.7093C>T (p.Arg2365Trp) | |
16 | g.89279320G>C | CA397148885 | ANKRD11 | c.7222C>G (p.Arg2408Gly) c.*7025C>G (n.*7025C>G) c.745-4129C>G (n.745-4129C>G) c.152-4129C>G n.397C>G c.7120C>G (p.Arg2374Gly) c.6925C>G (p.Arg2309Gly) c.7093C>G (p.Arg2365Gly) | ClinVar dbSNP |
16 | g.89279320G= | CA2241586636 | ANKRD11 | c.7222C= (p.Arg2408=) c.*7025C= (n.*7025C=) c.745-4129C= (n.745-4129C=) c.152-4129C= n.397C= c.7120C= (p.Arg2374=) c.6925C= (p.Arg2309=) c.7093C= (p.Arg2365=) | |
16 | g.89279320G>T | CA497372469 | ANKRD11 | c.7222C>A (p.Arg2408=) c.*7025C>A (n.*7025C>A) c.745-4129C>A (n.745-4129C>A) c.152-4129C>A n.397C>A c.7120C>A (p.Arg2374=) c.6925C>A (p.Arg2309=) c.7093C>A (p.Arg2365=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279321C>A | CA8241277 | ANKRD11 | c.7221G>T (p.Thr2407=) c.*7024G>T (n.*7024G>T) c.745-4130G>T (n.745-4130G>T) c.152-4130G>T n.396G>T c.7119G>T (p.Thr2373=) c.6924G>T (p.Thr2308=) c.7092G>T (p.Thr2364=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89279321C= | CA2241586637 | ANKRD11 | c.7221G= (p.Thr2407=) c.*7024G= (n.*7024G=) c.745-4130G= (n.745-4130G=) c.152-4130G= n.396G= c.7119G= (p.Thr2373=) c.6924G= (p.Thr2308=) c.7092G= (p.Thr2364=) | |
16 | g.89279321C>G | CA497372471 | ANKRD11 | c.7221G>C (p.Thr2407=) c.*7024G>C (n.*7024G>C) c.745-4130G>C (n.745-4130G>C) c.152-4130G>C n.396G>C c.7119G>C (p.Thr2373=) c.6924G>C (p.Thr2308=) c.7092G>C (p.Thr2364=) | gnomAD v4 |
16 | g.89279321C>T | CA8241276 | ANKRD11 | c.7221G>A (p.Thr2407=) c.*7024G>A (n.*7024G>A) c.745-4130G>A (n.745-4130G>A) c.152-4130G>A n.396G>A c.7119G>A (p.Thr2373=) c.6924G>A (p.Thr2308=) c.7092G>A (p.Thr2364=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89279322G>A | CA397148889 | ANKRD11 | c.7220C>T (p.Thr2407Met) c.*7023C>T (n.*7023C>T) c.745-4131C>T (n.745-4131C>T) c.152-4131C>T n.395C>T c.7118C>T (p.Thr2373Met) c.6923C>T (p.Thr2308Met) c.7091C>T (p.Thr2364Met) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89279322G>C | CA397148891 | ANKRD11 | c.7220C>G (p.Thr2407Arg) c.*7023C>G (n.*7023C>G) c.745-4131C>G (n.745-4131C>G) c.152-4131C>G n.395C>G c.7118C>G (p.Thr2373Arg) c.6923C>G (p.Thr2308Arg) c.7091C>G (p.Thr2364Arg) | |
16 | g.89279322G= | CA2241586638 | ANKRD11 | c.7220C= (p.Thr2407=) c.*7023C= (n.*7023C=) c.745-4131C= (n.745-4131C=) c.152-4131C= n.395C= c.7118C= (p.Thr2373=) c.6923C= (p.Thr2308=) c.7091C= (p.Thr2364=) | |
16 | g.89279322G>T | CA397148893 | ANKRD11 | c.7220C>A (p.Thr2407Lys) c.*7023C>A (n.*7023C>A) c.745-4131C>A (n.745-4131C>A) c.152-4131C>A n.395C>A c.7118C>A (p.Thr2373Lys) c.6923C>A (p.Thr2308Lys) c.7091C>A (p.Thr2364Lys) | |
16 | g.89279323T>A | CA397148895 | ANKRD11 | c.7219A>T (p.Thr2407Ser) c.*7022A>T (n.*7022A>T) c.745-4132A>T (n.745-4132A>T) c.152-4132A>T n.394A>T c.7117A>T (p.Thr2373Ser) c.6922A>T (p.Thr2308Ser) c.7090A>T (p.Thr2364Ser) | |
16 | g.89279323T>C | CA397148897 | ANKRD11 | c.7219A>G (p.Thr2407Ala) c.*7022A>G (n.*7022A>G) c.745-4132A>G (n.745-4132A>G) c.152-4132A>G n.394A>G c.7117A>G (p.Thr2373Ala) c.6922A>G (p.Thr2308Ala) c.7090A>G (p.Thr2364Ala) | gnomAD v4 |
16 | g.89279323T>G | CA397148898 | ANKRD11 | c.7219A>C (p.Thr2407Pro) c.*7022A>C (n.*7022A>C) c.745-4132A>C (n.745-4132A>C) c.152-4132A>C n.394A>C c.7117A>C (p.Thr2373Pro) c.6922A>C (p.Thr2308Pro) c.7090A>C (p.Thr2364Pro) | |
16 | g.89279324C>A | CA397148899 | ANKRD11 | c.7218G>T (p.Gln2406His) c.*7021G>T (n.*7021G>T) c.745-4133G>T (n.745-4133G>T) c.152-4133G>T n.393G>T c.7116G>T (p.Gln2372His) c.6921G>T (p.Gln2307His) c.7089G>T (p.Gln2363His) | |
16 | g.89279324C>G | CA397148900 | ANKRD11 | c.7218G>C (p.Gln2406His) c.*7021G>C (n.*7021G>C) c.745-4133G>C (n.745-4133G>C) c.152-4133G>C n.393G>C c.7116G>C (p.Gln2372His) c.6921G>C (p.Gln2307His) c.7089G>C (p.Gln2363His) | |
16 | g.89279324C>T | CA497372474 | ANKRD11 | c.7218G>A (p.Gln2406=) c.*7021G>A (n.*7021G>A) c.745-4133G>A (n.745-4133G>A) c.152-4133G>A n.393G>A c.7116G>A (p.Gln2372=) c.6921G>A (p.Gln2307=) c.7089G>A (p.Gln2363=) | gnomAD v4 |
16 | g.89279325T>A | CA397148903 | ANKRD11 | c.7217A>T (p.Gln2406Leu) c.*7020A>T (n.*7020A>T) c.745-4134A>T (n.745-4134A>T) c.152-4134A>T n.392A>T c.7115A>T (p.Gln2372Leu) c.6920A>T (p.Gln2307Leu) c.7088A>T (p.Gln2363Leu) | |
16 | g.89279325T>C | CA397148904 | ANKRD11 | c.7217A>G (p.Gln2406Arg) c.*7020A>G (n.*7020A>G) c.745-4134A>G (n.745-4134A>G) c.152-4134A>G n.392A>G c.7115A>G (p.Gln2372Arg) c.6920A>G (p.Gln2307Arg) c.7088A>G (p.Gln2363Arg) | |
16 | g.89279325T>G | CA397148905 | ANKRD11 | c.7217A>C (p.Gln2406Pro) c.*7020A>C (n.*7020A>C) c.745-4134A>C (n.745-4134A>C) c.152-4134A>C n.392A>C c.7115A>C (p.Gln2372Pro) c.6920A>C (p.Gln2307Pro) c.7088A>C (p.Gln2363Pro) | |
16 | g.89279326G>A | CA397148907 | ANKRD11 | c.7216C>T (p.Gln2406Ter) c.*7019C>T (n.*7019C>T) c.745-4135C>T (n.745-4135C>T) c.152-4135C>T n.391C>T c.7114C>T (p.Gln2372Ter) c.6919C>T (p.Gln2307Ter) c.7087C>T (p.Gln2363Ter) | |
16 | g.89279326G>C | CA397148909 | ANKRD11 | c.7216C>G (p.Gln2406Glu) c.*7019C>G (n.*7019C>G) c.745-4135C>G (n.745-4135C>G) c.152-4135C>G n.391C>G c.7114C>G (p.Gln2372Glu) c.6919C>G (p.Gln2307Glu) c.7087C>G (p.Gln2363Glu) | |
16 | g.89279326G= | CA2497028763 | ANKRD11 | c.7216C= (p.Gln2406=) c.*7019C= (n.*7019C=) c.745-4135C= (n.745-4135C=) c.152-4135C= n.391C= c.7114C= (p.Gln2372=) c.6919C= (p.Gln2307=) c.7087C= (p.Gln2363=) | |
16 | g.89279326G>T | CA397148911 | ANKRD11 | c.7216C>A (p.Gln2406Lys) c.*7019C>A (n.*7019C>A) c.745-4135C>A (n.745-4135C>A) c.152-4135C>A n.391C>A c.7114C>A (p.Gln2372Lys) c.6919C>A (p.Gln2307Lys) c.7087C>A (p.Gln2363Lys) | |
16 | g.89279327C>A | CA397148913 | ANKRD11 | c.7215G>T (p.Gln2405His) c.*7018G>T (n.*7018G>T) c.745-4136G>T (n.745-4136G>T) c.152-4136G>T n.390G>T c.7113G>T (p.Gln2371His) c.6918G>T (p.Gln2306His) c.7086G>T (p.Gln2362His) | |
16 | g.89279327C>G | CA397148914 | ANKRD11 | c.7215G>C (p.Gln2405His) c.*7018G>C (n.*7018G>C) c.745-4136G>C (n.745-4136G>C) c.152-4136G>C n.390G>C c.7113G>C (p.Gln2371His) c.6918G>C (p.Gln2306His) c.7086G>C (p.Gln2362His) | |
16 | g.89279327C>T | CA497372479 | ANKRD11 | c.7215G>A (p.Gln2405=) c.*7018G>A (n.*7018G>A) c.745-4136G>A (n.745-4136G>A) c.152-4136G>A n.390G>A c.7113G>A (p.Gln2371=) c.6918G>A (p.Gln2306=) c.7086G>A (p.Gln2362=) | |
16 | g.89279328T>A | CA397148916 | ANKRD11 | c.7214A>T (p.Gln2405Leu) c.*7017A>T (n.*7017A>T) c.745-4137A>T (n.745-4137A>T) c.152-4137A>T n.389A>T c.7112A>T (p.Gln2371Leu) c.6917A>T (p.Gln2306Leu) c.7085A>T (p.Gln2362Leu) | |
16 | g.89279328T>C | CA397148917 | ANKRD11 | c.7214A>G (p.Gln2405Arg) c.*7017A>G (n.*7017A>G) c.745-4137A>G (n.745-4137A>G) c.152-4137A>G n.389A>G c.7112A>G (p.Gln2371Arg) c.6917A>G (p.Gln2306Arg) c.7085A>G (p.Gln2362Arg) | |
16 | g.89279328T>G | CA397148919 | ANKRD11 | c.7214A>C (p.Gln2405Pro) c.*7017A>C (n.*7017A>C) c.745-4137A>C (n.745-4137A>C) c.152-4137A>C n.389A>C c.7112A>C (p.Gln2371Pro) c.6917A>C (p.Gln2306Pro) c.7085A>C (p.Gln2362Pro) | |
16 | g.89279329G>A | CA397148921 | ANKRD11 | c.7213C>T (p.Gln2405Ter) c.*7016C>T (n.*7016C>T) c.745-4138C>T (n.745-4138C>T) c.152-4138C>T n.388C>T c.7111C>T (p.Gln2371Ter) c.6916C>T (p.Gln2306Ter) c.7084C>T (p.Gln2362Ter) | |
16 | g.89279329G>C | CA397148923 | ANKRD11 | c.7213C>G (p.Gln2405Glu) c.*7016C>G (n.*7016C>G) c.745-4138C>G (n.745-4138C>G) c.152-4138C>G n.388C>G c.7111C>G (p.Gln2371Glu) c.6916C>G (p.Gln2306Glu) c.7084C>G (p.Gln2362Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279329G= | CA2241586639 | ANKRD11 | c.7213C= (p.Gln2405=) c.*7016C= (n.*7016C=) c.745-4138C= (n.745-4138C=) c.152-4138C= n.388C= c.7111C= (p.Gln2371=) c.6916C= (p.Gln2306=) c.7084C= (p.Gln2362=) | |
16 | g.89279329G>T | CA397148924 | ANKRD11 | c.7213C>A (p.Gln2405Lys) c.*7016C>A (n.*7016C>A) c.745-4138C>A (n.745-4138C>A) c.152-4138C>A n.388C>A c.7111C>A (p.Gln2371Lys) c.6916C>A (p.Gln2306Lys) c.7084C>A (p.Gln2362Lys) | gnomAD v4 |
16 | g.89279330C>A | CA497372483 | ANKRD11 | c.7212G>T (p.Thr2404=) c.*7015G>T (n.*7015G>T) c.745-4139G>T (n.745-4139G>T) c.152-4139G>T n.387G>T c.7110G>T (p.Thr2370=) c.6915G>T (p.Thr2305=) c.7083G>T (p.Thr2361=) | gnomAD v4 |
16 | g.89279330C= | CA2241586640 | ANKRD11 | c.7212G= (p.Thr2404=) c.*7015G= (n.*7015G=) c.745-4139G= (n.745-4139G=) c.152-4139G= n.387G= c.7110G= (p.Thr2370=) c.6915G= (p.Thr2305=) c.7083G= (p.Thr2361=) | |
16 | g.89279330C>G | CA497372484 | ANKRD11 | c.7212G>C (p.Thr2404=) c.*7015G>C (n.*7015G>C) c.745-4139G>C (n.745-4139G>C) c.152-4139G>C n.387G>C c.7110G>C (p.Thr2370=) c.6915G>C (p.Thr2305=) c.7083G>C (p.Thr2361=) | |
16 | g.89279330C>T | CA8241278 | ANKRD11 | c.7212G>A (p.Thr2404=) c.*7015G>A (n.*7015G>A) c.745-4139G>A (n.745-4139G>A) c.152-4139G>A n.387G>A c.7110G>A (p.Thr2370=) c.6915G>A (p.Thr2305=) c.7083G>A (p.Thr2361=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.89279331G>A | CA397148927 | ANKRD11 | c.7211C>T (p.Thr2404Met) c.*7014C>T (n.*7014C>T) c.745-4140C>T (n.745-4140C>T) c.152-4140C>T n.386C>T c.7109C>T (p.Thr2370Met) c.6914C>T (p.Thr2305Met) c.7082C>T (p.Thr2361Met) | gnomAD v4 |
16 | g.89279331G>C | CA397148928 | ANKRD11 | c.7211C>G (p.Thr2404Arg) c.*7014C>G (n.*7014C>G) c.745-4140C>G (n.745-4140C>G) c.152-4140C>G n.386C>G c.7109C>G (p.Thr2370Arg) c.6914C>G (p.Thr2305Arg) c.7082C>G (p.Thr2361Arg) | |
16 | g.89279331G>T | CA397148930 | ANKRD11 | c.7211C>A (p.Thr2404Lys) c.*7014C>A (n.*7014C>A) c.745-4140C>A (n.745-4140C>A) c.152-4140C>A n.386C>A c.7109C>A (p.Thr2370Lys) c.6914C>A (p.Thr2305Lys) c.7082C>A (p.Thr2361Lys) | |
16 | g.89279332T>A | CA397148932 | ANKRD11 | c.7210A>T (p.Thr2404Ser) c.*7013A>T (n.*7013A>T) c.745-4141A>T (n.745-4141A>T) c.152-4141A>T n.385A>T c.7108A>T (p.Thr2370Ser) c.6913A>T (p.Thr2305Ser) c.7081A>T (p.Thr2361Ser) | |
16 | g.89279332T>C | CA8241279 | ANKRD11 | c.7210A>G (p.Thr2404Ala) c.*7013A>G (n.*7013A>G) c.745-4141A>G (n.745-4141A>G) c.152-4141A>G n.385A>G c.7108A>G (p.Thr2370Ala) c.6913A>G (p.Thr2305Ala) c.7081A>G (p.Thr2361Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89279332T>G | CA397148934 | ANKRD11 | c.7210A>C (p.Thr2404Pro) c.*7013A>C (n.*7013A>C) c.745-4141A>C (n.745-4141A>C) c.152-4141A>C n.385A>C c.7108A>C (p.Thr2370Pro) c.6913A>C (p.Thr2305Pro) c.7081A>C (p.Thr2361Pro) | |
16 | g.89279332T= | CA2241586641 | ANKRD11 | c.7210A= (p.Thr2404=) c.*7013A= (n.*7013A=) c.745-4141A= (n.745-4141A=) c.152-4141A= n.385A= c.7108A= (p.Thr2370=) c.6913A= (p.Thr2305=) c.7081A= (p.Thr2361=) | |
16 | g.89279333G>A | CA497372489 | ANKRD11 | c.7209C>T (p.Ser2403=) c.*7012C>T (n.*7012C>T) c.745-4142C>T (n.745-4142C>T) c.152-4142C>T n.384C>T c.7107C>T (p.Ser2369=) c.6912C>T (p.Ser2304=) c.7080C>T (p.Ser2360=) | gnomAD v4 |
16 | g.89279333G>C | CA497372490 | ANKRD11 | c.7209C>G (p.Ser2403=) c.*7012C>G (n.*7012C>G) c.745-4142C>G (n.745-4142C>G) c.152-4142C>G n.384C>G c.7107C>G (p.Ser2369=) c.6912C>G (p.Ser2304=) c.7080C>G (p.Ser2360=) | |
16 | g.89279333G>T | CA497372492 | ANKRD11 | c.7209C>A (p.Ser2403=) c.*7012C>A (n.*7012C>A) c.745-4142C>A (n.745-4142C>A) c.152-4142C>A n.384C>A c.7107C>A (p.Ser2369=) c.6912C>A (p.Ser2304=) c.7080C>A (p.Ser2360=) | |
16 | g.89279334G>A | CA397148936 | ANKRD11 | c.7208C>T (p.Ser2403Phe) c.*7011C>T (n.*7011C>T) c.745-4143C>T (n.745-4143C>T) c.152-4143C>T n.383C>T c.7106C>T (p.Ser2369Phe) c.6911C>T (p.Ser2304Phe) c.7079C>T (p.Ser2360Phe) | gnomAD v4 |
16 | g.89279334G>C | CA397148938 | ANKRD11 | c.7208C>G (p.Ser2403Cys) c.*7011C>G (n.*7011C>G) c.745-4143C>G (n.745-4143C>G) c.152-4143C>G n.383C>G c.7106C>G (p.Ser2369Cys) c.6911C>G (p.Ser2304Cys) c.7079C>G (p.Ser2360Cys) | |
16 | g.89279334G>T | CA397148940 | ANKRD11 | c.7208C>A (p.Ser2403Tyr) c.*7011C>A (n.*7011C>A) c.745-4143C>A (n.745-4143C>A) c.152-4143C>A n.383C>A c.7106C>A (p.Ser2369Tyr) c.6911C>A (p.Ser2304Tyr) c.7079C>A (p.Ser2360Tyr) | gnomAD v4 |
16 | g.89279335A= | CA2241586642 | ANKRD11 | c.7207T= (p.Ser2403=) c.*7010T= (n.*7010T=) c.745-4144T= (n.745-4144T=) c.152-4144T= n.382T= c.7105T= (p.Ser2369=) c.6910T= (p.Ser2304=) c.7078T= (p.Ser2360=) | |
16 | g.89279335A>C | CA397148942 | ANKRD11 | c.7207T>G (p.Ser2403Ala) c.*7010T>G (n.*7010T>G) c.745-4144T>G (n.745-4144T>G) c.152-4144T>G n.382T>G c.7105T>G (p.Ser2369Ala) c.6910T>G (p.Ser2304Ala) c.7078T>G (p.Ser2360Ala) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89279335A>G | CA397148944 | ANKRD11 | c.7207T>C (p.Ser2403Pro) c.*7010T>C (n.*7010T>C) c.745-4144T>C (n.745-4144T>C) c.152-4144T>C n.382T>C c.7105T>C (p.Ser2369Pro) c.6910T>C (p.Ser2304Pro) c.7078T>C (p.Ser2360Pro) | gnomAD v4 |
16 | g.89279335A>T | CA8241280 | ANKRD11 | c.7207T>A (p.Ser2403Thr) c.*7010T>A (n.*7010T>A) c.745-4144T>A (n.745-4144T>A) c.152-4144T>A n.382T>A c.7105T>A (p.Ser2369Thr) c.6910T>A (p.Ser2304Thr) c.7078T>A (p.Ser2360Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279336C>A | CA497372494 | ANKRD11 | c.7206G>T (p.Thr2402=) c.*7009G>T (n.*7009G>T) c.745-4145G>T (n.745-4145G>T) c.152-4145G>T n.381G>T c.7104G>T (p.Thr2368=) c.6909G>T (p.Thr2303=) c.7077G>T (p.Thr2359=) | gnomAD v4 |
16 | g.89279336C= | CA2241586643 | ANKRD11 | c.7206G= (p.Thr2402=) c.*7009G= (n.*7009G=) c.745-4145G= (n.745-4145G=) c.152-4145G= n.381G= c.7104G= (p.Thr2368=) c.6909G= (p.Thr2303=) c.7077G= (p.Thr2359=) | |
16 | g.89279336C>G | CA497372495 | ANKRD11 | c.7206G>C (p.Thr2402=) c.*7009G>C (n.*7009G>C) c.745-4145G>C (n.745-4145G>C) c.152-4145G>C n.381G>C c.7104G>C (p.Thr2368=) c.6909G>C (p.Thr2303=) c.7077G>C (p.Thr2359=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89279336C>T | CA8241281 | ANKRD11 | c.7206G>A (p.Thr2402=) c.*7009G>A (n.*7009G>A) c.745-4145G>A (n.745-4145G>A) c.152-4145G>A n.381G>A c.7104G>A (p.Thr2368=) c.6909G>A (p.Thr2303=) c.7077G>A (p.Thr2359=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279337G>A | CA397148948 | ANKRD11 | c.7205C>T (p.Thr2402Met) c.*7008C>T (n.*7008C>T) c.745-4146C>T (n.745-4146C>T) c.152-4146C>T n.380C>T c.7103C>T (p.Thr2368Met) c.6908C>T (p.Thr2303Met) c.7076C>T (p.Thr2359Met) | |
16 | g.89279337G>C | CA397148953 | ANKRD11 | c.7205C>G (p.Thr2402Arg) c.*7008C>G (n.*7008C>G) c.745-4146C>G (n.745-4146C>G) c.152-4146C>G n.380C>G c.7103C>G (p.Thr2368Arg) c.6908C>G (p.Thr2303Arg) c.7076C>G (p.Thr2359Arg) | |
16 | g.89279337G>T | CA397148951 | ANKRD11 | c.7205C>A (p.Thr2402Lys) c.*7008C>A (n.*7008C>A) c.745-4146C>A (n.745-4146C>A) c.152-4146C>A n.380C>A c.7103C>A (p.Thr2368Lys) c.6908C>A (p.Thr2303Lys) c.7076C>A (p.Thr2359Lys) | |
16 | g.89279338T>A | CA397148955 | ANKRD11 | c.7204A>T (p.Thr2402Ser) c.*7007A>T (n.*7007A>T) c.745-4147A>T (n.745-4147A>T) c.152-4147A>T n.379A>T c.7102A>T (p.Thr2368Ser) c.6907A>T (p.Thr2303Ser) c.7075A>T (p.Thr2359Ser) | |
16 | g.89279338T>C | CA397148958 | ANKRD11 | c.7204A>G (p.Thr2402Ala) c.*7007A>G (n.*7007A>G) c.745-4147A>G (n.745-4147A>G) c.152-4147A>G n.379A>G c.7102A>G (p.Thr2368Ala) c.6907A>G (p.Thr2303Ala) c.7075A>G (p.Thr2359Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.89279338T>G | CA397148956 | ANKRD11 | c.7204A>C (p.Thr2402Pro) c.*7007A>C (n.*7007A>C) c.745-4147A>C (n.745-4147A>C) c.152-4147A>C n.379A>C c.7102A>C (p.Thr2368Pro) c.6907A>C (p.Thr2303Pro) c.7075A>C (p.Thr2359Pro) | |
16 | g.89279338T= | CA2241586644 | ANKRD11 | c.7204A= (p.Thr2402=) c.*7007A= (n.*7007A=) c.745-4147A= (n.745-4147A=) c.152-4147A= n.379A= c.7102A= (p.Thr2368=) c.6907A= (p.Thr2303=) c.7075A= (p.Thr2359=) | |
16 | g.89279339G>A | CA497372496 | ANKRD11 | c.7203C>T (p.Asn2401=) c.*7006C>T (n.*7006C>T) c.745-4148C>T (n.745-4148C>T) c.152-4148C>T n.378C>T c.7101C>T (p.Asn2367=) c.6906C>T (p.Asn2302=) c.7074C>T (p.Asn2358=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.89279339G>C | CA397148960 | ANKRD11 | c.7203C>G (p.Asn2401Lys) c.*7006C>G (n.*7006C>G) c.745-4148C>G (n.745-4148C>G) c.152-4148C>G n.378C>G c.7101C>G (p.Asn2367Lys) c.6906C>G (p.Asn2302Lys) c.7074C>G (p.Asn2358Lys) | |
16 | g.89279339G= | CA2241586645 | ANKRD11 | c.7203C= (p.Asn2401=) c.*7006C= (n.*7006C=) c.745-4148C= (n.745-4148C=) c.152-4148C= n.378C= c.7101C= (p.Asn2367=) c.6906C= (p.Asn2302=) c.7074C= (p.Asn2358=) | |
16 | g.89279339G>T | CA397148961 | ANKRD11 | c.7203C>A (p.Asn2401Lys) c.*7006C>A (n.*7006C>A) c.745-4148C>A (n.745-4148C>A) c.152-4148C>A n.378C>A c.7101C>A (p.Asn2367Lys) c.6906C>A (p.Asn2302Lys) c.7074C>A (p.Asn2358Lys) | |
16 | g.89279340T>A | CA397148962 | ANKRD11 | c.7202A>T (p.Asn2401Ile) c.*7005A>T (n.*7005A>T) c.745-4149A>T (n.745-4149A>T) c.152-4149A>T n.377A>T c.7100A>T (p.Asn2367Ile) c.6905A>T (p.Asn2302Ile) c.7073A>T (p.Asn2358Ile) | |
16 | g.89279340T>C | CA286509447 | ANKRD11 | c.7202A>G (p.Asn2401Ser) c.*7005A>G (n.*7005A>G) c.745-4149A>G (n.745-4149A>G) c.152-4149A>G n.377A>G c.7100A>G (p.Asn2367Ser) c.6905A>G (p.Asn2302Ser) c.7073A>G (p.Asn2358Ser) | dbSNP gnomAD v4 |
16 | g.89279340T>G | CA397148965 | ANKRD11 | c.7202A>C (p.Asn2401Thr) c.*7005A>C (n.*7005A>C) c.745-4149A>C (n.745-4149A>C) c.152-4149A>C n.377A>C c.7100A>C (p.Asn2367Thr) c.6905A>C (p.Asn2302Thr) c.7073A>C (p.Asn2358Thr) | |
16 | g.89279340T= | CA2241586646 | ANKRD11 | c.7202A= (p.Asn2401=) c.*7005A= (n.*7005A=) c.745-4149A= (n.745-4149A=) c.152-4149A= n.377A= c.7100A= (p.Asn2367=) c.6905A= (p.Asn2302=) c.7073A= (p.Asn2358=) | |
16 | g.89279341T>A | CA397148967 | ANKRD11 | c.7201A>T (p.Asn2401Tyr) c.*7004A>T (n.*7004A>T) c.745-4150A>T (n.745-4150A>T) c.152-4150A>T n.376A>T c.7099A>T (p.Asn2367Tyr) c.6904A>T (p.Asn2302Tyr) c.7072A>T (p.Asn2358Tyr) | |
16 | g.89279341T>C | CA397148968 | ANKRD11 | c.7201A>G (p.Asn2401Asp) c.*7004A>G (n.*7004A>G) c.745-4150A>G (n.745-4150A>G) c.152-4150A>G n.376A>G c.7099A>G (p.Asn2367Asp) c.6904A>G (p.Asn2302Asp) c.7072A>G (p.Asn2358Asp) | |
16 | g.89279341T>G | CA397148969 | ANKRD11 | c.7201A>C (p.Asn2401His) c.*7004A>C (n.*7004A>C) c.745-4150A>C (n.745-4150A>C) c.152-4150A>C n.376A>C c.7099A>C (p.Asn2367His) c.6904A>C (p.Asn2302His) c.7072A>C (p.Asn2358His) | |
16 | g.89279341T= | CA2241586647 | ANKRD11 | c.7201A= (p.Asn2401=) c.*7004A= (n.*7004A=) c.745-4150A= (n.745-4150A=) c.152-4150A= n.376A= c.7099A= (p.Asn2367=) c.6904A= (p.Asn2302=) c.7072A= (p.Asn2358=) | |
16 | g.89279342C>A | CA497372503 | ANKRD11 | c.7200G>T (p.Leu2400=) c.*7003G>T (n.*7003G>T) c.745-4151G>T (n.745-4151G>T) c.152-4151G>T n.375G>T c.7098G>T (p.Leu2366=) c.6903G>T (p.Leu2301=) c.7071G>T (p.Leu2357=) | |
16 | g.89279342C= | CA2241586648 | ANKRD11 | c.7200G= (p.Leu2400=) c.*7003G= (n.*7003G=) c.745-4151G= (n.745-4151G=) c.152-4151G= n.375G= c.7098G= (p.Leu2366=) c.6903G= (p.Leu2301=) c.7071G= (p.Leu2357=) | |
16 | g.89279342C>G | CA497372505 | ANKRD11 | c.7200G>C (p.Leu2400=) c.*7003G>C (n.*7003G>C) c.745-4151G>C (n.745-4151G>C) c.152-4151G>C n.375G>C c.7098G>C (p.Leu2366=) c.6903G>C (p.Leu2301=) c.7071G>C (p.Leu2357=) | |
16 | g.89279342C>T | CA497372504 | ANKRD11 | c.7200G>A (p.Leu2400=) c.*7003G>A (n.*7003G>A) c.745-4151G>A (n.745-4151G>A) c.152-4151G>A n.375G>A c.7098G>A (p.Leu2366=) c.6903G>A (p.Leu2301=) c.7071G>A (p.Leu2357=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89279343_89279345dup | CA624452345 | ANKRD11 | c.7198_7200dup (p.Leu2400_Asn2401insLeu) c.*7001_*7003dup (n.*7001_*7003dup) c.745-4153_745-4151dup (n.745-4153_745-4151dup) c.152-4153_152-4151dup n.373_375dup c.7096_7098dup (p.Leu2366_Asn2367insLeu) c.6901_6903dup (p.Leu2301_Asn2302insLeu) c.7069_7071dup (p.Leu2357_Asn2358insLeu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279351_89279362dup | CA2697556039 | ANKRD11 | c.7189_7200dup (p.Leu2400_Asn2401insGlnGlnGlnLeu) c.*6992_*7003dup (n.*6992_*7003dup) c.745-4162_745-4151dup (n.745-4162_745-4151dup) c.152-4162_152-4151dup n.364_375dup c.7087_7098dup (p.Leu2366_Asn2367insGlnGlnGlnLeu) c.6892_6903dup (p.Leu2301_Asn2302insGlnGlnGlnLeu) c.7060_7071dup (p.Leu2357_Asn2358insGlnGlnGlnLeu) | ClinVar |
16 | g.89279343A= | CA2241586649 | ANKRD11 | c.7199T= (p.Leu2400=) c.*7002T= (n.*7002T=) c.745-4152T= (n.745-4152T=) c.152-4152T= n.374T= c.7097T= (p.Leu2366=) c.6902T= (p.Leu2301=) c.7070T= (p.Leu2357=) | |
16 | g.89279343A>C | CA397148971 | ANKRD11 | c.7199T>G (p.Leu2400Arg) c.*7002T>G (n.*7002T>G) c.745-4152T>G (n.745-4152T>G) c.152-4152T>G n.374T>G c.7097T>G (p.Leu2366Arg) c.6902T>G (p.Leu2301Arg) c.7070T>G (p.Leu2357Arg) | |
16 | g.89279343A>G | CA397148973 | ANKRD11 | c.7199T>C (p.Leu2400Pro) c.*7002T>C (n.*7002T>C) c.745-4152T>C (n.745-4152T>C) c.152-4152T>C n.374T>C c.7097T>C (p.Leu2366Pro) c.6902T>C (p.Leu2301Pro) c.7070T>C (p.Leu2357Pro) | |
16 | g.89279343A>T | CA397148974 | ANKRD11 | c.7199T>A (p.Leu2400Gln) c.*7002T>A (n.*7002T>A) c.745-4152T>A (n.745-4152T>A) c.152-4152T>A n.374T>A c.7097T>A (p.Leu2366Gln) c.6902T>A (p.Leu2301Gln) c.7070T>A (p.Leu2357Gln) | gnomAD v4 |
16 | g.89279344G>A | CA8241282 | ANKRD11 | c.7198C>T (p.Leu2400=) c.*7001C>T (n.*7001C>T) c.745-4153C>T (n.745-4153C>T) c.152-4153C>T n.373C>T c.7096C>T (p.Leu2366=) c.6901C>T (p.Leu2301=) c.7069C>T (p.Leu2357=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89279344G>C | CA286509453 | ANKRD11 | c.7198C>G (p.Leu2400Val) c.*7001C>G (n.*7001C>G) c.745-4153C>G (n.745-4153C>G) c.152-4153C>G n.373C>G c.7096C>G (p.Leu2366Val) c.6901C>G (p.Leu2301Val) c.7069C>G (p.Leu2357Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.89279344G= | CA2241586650 | ANKRD11 | c.7198C= (p.Leu2400=) c.*7001C= (n.*7001C=) c.745-4153C= (n.745-4153C=) c.152-4153C= n.373C= c.7096C= (p.Leu2366=) c.6901C= (p.Leu2301=) c.7069C= (p.Leu2357=) | |
16 | g.89279344G>T | CA397148977 | ANKRD11 | c.7198C>A (p.Leu2400Met) c.*7001C>A (n.*7001C>A) c.745-4153C>A (n.745-4153C>A) c.152-4153C>A n.373C>A c.7096C>A (p.Leu2366Met) c.6901C>A (p.Leu2301Met) c.7069C>A (p.Leu2357Met) | |
16 | g.89279352_89279354dup | CA624452346 | ANKRD11 | c.7196_7198dup (p.Gln2399_Leu2400insGln) c.*6999_*7001dup (n.*6999_*7001dup) c.745-4155_745-4153dup (n.745-4155_745-4153dup) c.152-4155_152-4153dup n.371_373dup c.7094_7096dup (p.Gln2365_Leu2366insGln) c.6899_6901dup (p.Gln2300_Leu2301insGln) c.7067_7069dup (p.Gln2356_Leu2357insGln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279352_89279354del | CA2739267048 | ANKRD11 | c.7196_7198del (p.Gln2399del) c.*6999_*7001del (n.*6999_*7001del) c.745-4155_745-4153del (n.745-4155_745-4153del) c.152-4155_152-4153del n.371_373del c.7094_7096del (p.Gln2365del) c.6899_6901del (p.Gln2300del) c.7067_7069del (p.Gln2356del) | ClinVar |
16 | g.89279345C>A | CA397148980 | ANKRD11 | c.7197G>T (p.Gln2399His) c.*7000G>T (n.*7000G>T) c.745-4154G>T (n.745-4154G>T) c.152-4154G>T n.372G>T c.7095G>T (p.Gln2365His) c.6900G>T (p.Gln2300His) c.7068G>T (p.Gln2356His) | gnomAD v4 |
16 | g.89279345C= | CA2241586651 | ANKRD11 | c.7197G= (p.Gln2399=) c.*7000G= (n.*7000G=) c.745-4154G= (n.745-4154G=) c.152-4154G= n.372G= c.7095G= (p.Gln2365=) c.6900G= (p.Gln2300=) c.7068G= (p.Gln2356=) | |
16 | g.89279345C>G | CA397148982 | ANKRD11 | c.7197G>C (p.Gln2399His) c.*7000G>C (n.*7000G>C) c.745-4154G>C (n.745-4154G>C) c.152-4154G>C n.372G>C c.7095G>C (p.Gln2365His) c.6900G>C (p.Gln2300His) c.7068G>C (p.Gln2356His) | |
16 | g.89279345C>T | CA497372508 | ANKRD11 | c.7197G>A (p.Gln2399=) c.*7000G>A (n.*7000G>A) c.745-4154G>A (n.745-4154G>A) c.152-4154G>A n.372G>A c.7095G>A (p.Gln2365=) c.6900G>A (p.Gln2300=) c.7068G>A (p.Gln2356=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89279346T>A | CA397148984 | ANKRD11 | c.7196A>T (p.Gln2399Leu) c.*6999A>T (n.*6999A>T) c.745-4155A>T (n.745-4155A>T) c.152-4155A>T n.371A>T c.7094A>T (p.Gln2365Leu) c.6899A>T (p.Gln2300Leu) c.7067A>T (p.Gln2356Leu) | |
16 | g.89279346T>C | CA397148985 | ANKRD11 | c.7196A>G (p.Gln2399Arg) c.*6999A>G (n.*6999A>G) c.745-4155A>G (n.745-4155A>G) c.152-4155A>G n.371A>G c.7094A>G (p.Gln2365Arg) c.6899A>G (p.Gln2300Arg) c.7067A>G (p.Gln2356Arg) | |
16 | g.89279346T>G | CA397148987 | ANKRD11 | c.7196A>C (p.Gln2399Pro) c.*6999A>C (n.*6999A>C) c.745-4155A>C (n.745-4155A>C) c.152-4155A>C n.371A>C c.7094A>C (p.Gln2365Pro) c.6899A>C (p.Gln2300Pro) c.7067A>C (p.Gln2356Pro) | gnomAD v4 |
16 | g.89279347G>A | CA397148989 | ANKRD11 | c.7195C>T (p.Gln2399Ter) c.*6998C>T (n.*6998C>T) c.745-4156C>T (n.745-4156C>T) c.152-4156C>T n.370C>T c.7093C>T (p.Gln2365Ter) c.6898C>T (p.Gln2300Ter) c.7066C>T (p.Gln2356Ter) | |
16 | g.89279347G>C | CA397148991 | ANKRD11 | c.7195C>G (p.Gln2399Glu) c.*6998C>G (n.*6998C>G) c.745-4156C>G (n.745-4156C>G) c.152-4156C>G n.370C>G c.7093C>G (p.Gln2365Glu) c.6898C>G (p.Gln2300Glu) c.7066C>G (p.Gln2356Glu) | |
16 | g.89279347G>T | CA397148993 | ANKRD11 | c.7195C>A (p.Gln2399Lys) c.*6998C>A (n.*6998C>A) c.745-4156C>A (n.745-4156C>A) c.152-4156C>A n.370C>A c.7093C>A (p.Gln2365Lys) c.6898C>A (p.Gln2300Lys) c.7066C>A (p.Gln2356Lys) | |
16 | g.89279348C>A | CA397148995 | ANKRD11 | c.7194G>T (p.Gln2398His) c.*6997G>T (n.*6997G>T) c.745-4157G>T (n.745-4157G>T) c.152-4157G>T n.369G>T c.7092G>T (p.Gln2364His) c.6897G>T (p.Gln2299His) c.7065G>T (p.Gln2355His) | gnomAD v4 |
16 | g.89279348C= | CA2241586652 | ANKRD11 | c.7194G= (p.Gln2398=) c.*6997G= (n.*6997G=) c.745-4157G= (n.745-4157G=) c.152-4157G= n.369G= c.7092G= (p.Gln2364=) c.6897G= (p.Gln2299=) c.7065G= (p.Gln2355=) | |
16 | g.89279348C>G | CA397148997 | ANKRD11 | c.7194G>C (p.Gln2398His) c.*6997G>C (n.*6997G>C) c.745-4157G>C (n.745-4157G>C) c.152-4157G>C n.369G>C c.7092G>C (p.Gln2364His) c.6897G>C (p.Gln2299His) c.7065G>C (p.Gln2355His) | |
16 | g.89279348C>T | CA497372511 | ANKRD11 | c.7194G>A (p.Gln2398=) c.*6997G>A (n.*6997G>A) c.745-4157G>A (n.745-4157G>A) c.152-4157G>A n.369G>A c.7092G>A (p.Gln2364=) c.6897G>A (p.Gln2299=) c.7065G>A (p.Gln2355=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279349T>A | CA397149001 | ANKRD11 | c.7193A>T (p.Gln2398Leu) c.*6996A>T (n.*6996A>T) c.745-4158A>T (n.745-4158A>T) c.152-4158A>T n.368A>T c.7091A>T (p.Gln2364Leu) c.6896A>T (p.Gln2299Leu) c.7064A>T (p.Gln2355Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279349T>C | CA397149002 | ANKRD11 | c.7193A>G (p.Gln2398Arg) c.*6996A>G (n.*6996A>G) c.745-4158A>G (n.745-4158A>G) c.152-4158A>G n.368A>G c.7091A>G (p.Gln2364Arg) c.6896A>G (p.Gln2299Arg) c.7064A>G (p.Gln2355Arg) | |
16 | g.89279349T>G | CA397148999 | ANKRD11 | c.7193A>C (p.Gln2398Pro) c.*6996A>C (n.*6996A>C) c.745-4158A>C (n.745-4158A>C) c.152-4158A>C n.368A>C c.7091A>C (p.Gln2364Pro) c.6896A>C (p.Gln2299Pro) c.7064A>C (p.Gln2355Pro) | |
16 | g.89279349T= | CA2241586653 | ANKRD11 | c.7193A= (p.Gln2398=) c.*6996A= (n.*6996A=) c.745-4158A= (n.745-4158A=) c.152-4158A= n.368A= c.7091A= (p.Gln2364=) c.6896A= (p.Gln2299=) c.7064A= (p.Gln2355=) | |
16 | g.89279350G>A | CA397149004 | ANKRD11 | c.7192C>T (p.Gln2398Ter) c.*6995C>T (n.*6995C>T) c.745-4159C>T (n.745-4159C>T) c.152-4159C>T n.367C>T c.7090C>T (p.Gln2364Ter) c.6895C>T (p.Gln2299Ter) c.7063C>T (p.Gln2355Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.89279350G>C | CA397149005 | ANKRD11 | c.7192C>G (p.Gln2398Glu) c.*6995C>G (n.*6995C>G) c.745-4159C>G (n.745-4159C>G) c.152-4159C>G n.367C>G c.7090C>G (p.Gln2364Glu) c.6895C>G (p.Gln2299Glu) c.7063C>G (p.Gln2355Glu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89279350G= | CA2241586654 | ANKRD11 | c.7192C= (p.Gln2398=) c.*6995C= (n.*6995C=) c.745-4159C= (n.745-4159C=) c.152-4159C= n.367C= c.7090C= (p.Gln2364=) c.6895C= (p.Gln2299=) c.7063C= (p.Gln2355=) | |
16 | g.89279350G>T | CA397149006 | ANKRD11 | c.7192C>A (p.Gln2398Lys) c.*6995C>A (n.*6995C>A) c.745-4159C>A (n.745-4159C>A) c.152-4159C>A n.367C>A c.7090C>A (p.Gln2364Lys) c.6895C>A (p.Gln2299Lys) c.7063C>A (p.Gln2355Lys) | gnomAD v4 |
16 | g.89279355_89279360dup | CA2634940963 | ANKRD11 | c.7187_7192dup (p.Gln2397_Gln2398insLeuGln) c.*6990_*6995dup (n.*6990_*6995dup) c.745-4164_745-4159dup (n.745-4164_745-4159dup) c.152-4164_152-4159dup n.362_367dup c.7085_7090dup (p.Gln2363_Gln2364insLeuGln) c.6890_6895dup (p.Gln2298_Gln2299insLeuGln) c.7058_7063dup (p.Gln2354_Gln2355insLeuGln) | gnomAD v4 |
16 | g.89279351C>A | CA8241283 | ANKRD11 | c.7191G>T (p.Gln2397His) c.*6994G>T (n.*6994G>T) c.745-4160G>T (n.745-4160G>T) c.152-4160G>T n.366G>T c.7089G>T (p.Gln2363His) c.6894G>T (p.Gln2298His) c.7062G>T (p.Gln2354His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279351C= | CA2241586655 | ANKRD11 | c.7191G= (p.Gln2397=) c.*6994G= (n.*6994G=) c.745-4160G= (n.745-4160G=) c.152-4160G= n.366G= c.7089G= (p.Gln2363=) c.6894G= (p.Gln2298=) c.7062G= (p.Gln2354=) | |
16 | g.89279351C>G | CA8241284 | ANKRD11 | c.7191G>C (p.Gln2397His) c.*6994G>C (n.*6994G>C) c.745-4160G>C (n.745-4160G>C) c.152-4160G>C n.366G>C c.7089G>C (p.Gln2363His) c.6894G>C (p.Gln2298His) c.7062G>C (p.Gln2354His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89279351C>T | CA497372518 | ANKRD11 | c.7191G>A (p.Gln2397=) c.*6994G>A (n.*6994G>A) c.745-4160G>A (n.745-4160G>A) c.152-4160G>A n.366G>A c.7089G>A (p.Gln2363=) c.6894G>A (p.Gln2298=) c.7062G>A (p.Gln2354=) | ClinVar dbSNP gnomAD v4 |
16 | g.89279352T>A | CA8241285 | ANKRD11 | c.7190A>T (p.Gln2397Leu) c.*6993A>T (n.*6993A>T) c.745-4161A>T (n.745-4161A>T) c.152-4161A>T n.365A>T c.7088A>T (p.Gln2363Leu) c.6893A>T (p.Gln2298Leu) c.7061A>T (p.Gln2354Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.89279352T>C | CA397149011 | ANKRD11 | c.7190A>G (p.Gln2397Arg) c.*6993A>G (n.*6993A>G) c.745-4161A>G (n.745-4161A>G) c.152-4161A>G n.365A>G c.7088A>G (p.Gln2363Arg) c.6893A>G (p.Gln2298Arg) c.7061A>G (p.Gln2354Arg) | |
16 | g.89279352T>G | CA397149013 | ANKRD11 | c.7190A>C (p.Gln2397Pro) c.*6993A>C (n.*6993A>C) c.745-4161A>C (n.745-4161A>C) c.152-4161A>C n.365A>C c.7088A>C (p.Gln2363Pro) c.6893A>C (p.Gln2298Pro) c.7061A>C (p.Gln2354Pro) | |
16 | g.89279352T= | CA2241586656 | ANKRD11 | c.7190A= (p.Gln2397=) c.*6993A= (n.*6993A=) c.745-4161A= (n.745-4161A=) c.152-4161A= n.365A= c.7088A= (p.Gln2363=) c.6893A= (p.Gln2298=) c.7061A= (p.Gln2354=) | |
16 | g.89279353G>A | CA397149015 | ANKRD11 | c.7189C>T (p.Gln2397Ter) c.*6992C>T (n.*6992C>T) c.745-4162C>T (n.745-4162C>T) c.152-4162C>T n.364C>T c.7087C>T (p.Gln2363Ter) c.6892C>T (p.Gln2298Ter) c.7060C>T (p.Gln2354Ter) | ClinVar dbSNP |
16 | g.89279353G>C | CA397149017 | ANKRD11 | c.7189C>G (p.Gln2397Glu) c.*6992C>G (n.*6992C>G) c.745-4162C>G (n.745-4162C>G) c.152-4162C>G n.364C>G c.7087C>G (p.Gln2363Glu) c.6892C>G (p.Gln2298Glu) c.7060C>G (p.Gln2354Glu) | |
16 | g.89279353G= | CA2241586657 | ANKRD11 | c.7189C= (p.Gln2397=) c.*6992C= (n.*6992C=) c.745-4162C= (n.745-4162C=) c.152-4162C= n.364C= c.7087C= (p.Gln2363=) c.6892C= (p.Gln2298=) c.7060C= (p.Gln2354=) | |
16 | g.89279353G>T | CA397149018 | ANKRD11 | c.7189C>A (p.Gln2397Lys) c.*6992C>A (n.*6992C>A) c.745-4162C>A (n.745-4162C>A) c.152-4162C>A n.364C>A c.7087C>A (p.Gln2363Lys) c.6892C>A (p.Gln2298Lys) c.7060C>A (p.Gln2354Lys) | |
16 | g.89279355_89279357dup | CA2576097087 | ANKRD11 | c.7187_7189dup (p.Leu2396_Gln2397insLeu) c.*6990_*6992dup (n.*6990_*6992dup) c.745-4164_745-4162dup (n.745-4164_745-4162dup) c.152-4164_152-4162dup n.362_364dup c.7085_7087dup (p.Leu2362_Gln2363insLeu) c.6890_6892dup (p.Leu2297_Gln2298insLeu) c.7058_7060dup (p.Leu2353_Gln2354insLeu) | |
16 | g.89279353_89279354insGCCGCCACCAAACA | CA2808088000 | ANKRD11 | c.7188_7189insTGTTTGGTGGCGGC (p.Gln2397CysfsTer9) c.*6991_*6992insTGTTTGGTGGCGGC (n.*6991_*6992insTGTTTGGTGGCGGC) c.745-4163_745-4162insTGTTTGGTGGCGGC (n.745-4163_745-4162insTGTTTGGTGGCGGC) c.152-4163_152-4162insTGTTTGGTGGCGGC n.363_364insTGTTTGGTGGCGGC c.7086_7087insTGTTTGGTGGCGGC (p.Gln2363CysfsTer9) c.6891_6892insTGTTTGGTGGCGGC (p.Gln2298CysfsTer9) c.7059_7060insTGTTTGGTGGCGGC (p.Gln2354CysfsTer9) | |
16 | g.89279354C>A | CA497372528 | ANKRD11 | c.7188G>T (p.Leu2396=) c.*6991G>T (n.*6991G>T) c.745-4163G>T (n.745-4163G>T) c.152-4163G>T n.363G>T c.7086G>T (p.Leu2362=) c.6891G>T (p.Leu2297=) c.7059G>T (p.Leu2353=) | |
16 | g.89279354C= | CA2241586658 | ANKRD11 | c.7188G= (p.Leu2396=) c.*6991G= (n.*6991G=) c.745-4163G= (n.745-4163G=) c.152-4163G= n.363G= c.7086G= (p.Leu2362=) c.6891G= (p.Leu2297=) c.7059G= (p.Leu2353=) | |
16 | g.89279354C>G | CA497372527 | ANKRD11 | c.7188G>C (p.Leu2396=) c.*6991G>C (n.*6991G>C) c.745-4163G>C (n.745-4163G>C) c.152-4163G>C n.363G>C c.7086G>C (p.Leu2362=) c.6891G>C (p.Leu2297=) c.7059G>C (p.Leu2353=) | |
16 | g.89279354C>T | CA497372525 | ANKRD11 | c.7188G>A (p.Leu2396=) c.*6991G>A (n.*6991G>A) c.745-4163G>A (n.745-4163G>A) c.152-4163G>A n.363G>A c.7086G>A (p.Leu2362=) c.6891G>A (p.Leu2297=) c.7059G>A (p.Leu2353=) | dbSNP gnomAD v4 |
16 | g.89279355A= | CA2241586659 | ANKRD11 | c.7187T= (p.Leu2396=) c.*6990T= (n.*6990T=) c.745-4164T= (n.745-4164T=) c.152-4164T= n.362T= c.7085T= (p.Leu2362=) c.6890T= (p.Leu2297=) c.7058T= (p.Leu2353=) | |
16 | g.89279355A>C | CA397149021 | ANKRD11 | c.7187T>G (p.Leu2396Arg) c.*6990T>G (n.*6990T>G) c.745-4164T>G (n.745-4164T>G) c.152-4164T>G n.362T>G c.7085T>G (p.Leu2362Arg) c.6890T>G (p.Leu2297Arg) c.7058T>G (p.Leu2353Arg) | |
16 | g.89279355A>G | CA397149023 | ANKRD11 | c.7187T>C (p.Leu2396Pro) c.*6990T>C (n.*6990T>C) c.745-4164T>C (n.745-4164T>C) c.152-4164T>C n.362T>C c.7085T>C (p.Leu2362Pro) c.6890T>C (p.Leu2297Pro) c.7058T>C (p.Leu2353Pro) | |
16 | g.89279355A>T | CA397149020 | ANKRD11 | c.7187T>A (p.Leu2396Gln) c.*6990T>A (n.*6990T>A) c.745-4164T>A (n.745-4164T>A) c.152-4164T>A n.362T>A c.7085T>A (p.Leu2362Gln) c.6890T>A (p.Leu2297Gln) c.7058T>A (p.Leu2353Gln) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89279356G>A | CA8241286 | ANKRD11 | c.7186C>T (p.Leu2396=) c.*6989C>T (n.*6989C>T) c.745-4165C>T (n.745-4165C>T) c.152-4165C>T n.361C>T c.7084C>T (p.Leu2362=) c.6889C>T (p.Leu2297=) c.7057C>T (p.Leu2353=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279356G>C | CA397149026 | ANKRD11 | c.7186C>G (p.Leu2396Val) c.*6989C>G (n.*6989C>G) c.745-4165C>G (n.745-4165C>G) c.152-4165C>G n.361C>G c.7084C>G (p.Leu2362Val) c.6889C>G (p.Leu2297Val) c.7057C>G (p.Leu2353Val) | |
16 | g.89279356G= | CA2241586660 | ANKRD11 | c.7186C= (p.Leu2396=) c.*6989C= (n.*6989C=) c.745-4165C= (n.745-4165C=) c.152-4165C= n.361C= c.7084C= (p.Leu2362=) c.6889C= (p.Leu2297=) c.7057C= (p.Leu2353=) | |
16 | g.89279356G>T | CA397149028 | ANKRD11 | c.7186C>A (p.Leu2396Met) c.*6989C>A (n.*6989C>A) c.745-4165C>A (n.745-4165C>A) c.152-4165C>A n.361C>A c.7084C>A (p.Leu2362Met) c.6889C>A (p.Leu2297Met) c.7057C>A (p.Leu2353Met) | |
16 | g.89279360_89279362dup | CA2634940964 | ANKRD11 | c.7184_7186dup (p.Gln2395_Leu2396insGln) c.*6987_*6989dup (n.*6987_*6989dup) c.745-4167_745-4165dup (n.745-4167_745-4165dup) c.152-4167_152-4165dup n.359_361dup c.7082_7084dup (p.Gln2361_Leu2362insGln) c.6887_6889dup (p.Gln2296_Leu2297insGln) c.7055_7057dup (p.Gln2352_Leu2353insGln) | gnomAD v4 |
16 | g.89279357C>A | CA397149030 | ANKRD11 | c.7185G>T (p.Gln2395His) c.*6988G>T (n.*6988G>T) c.745-4166G>T (n.745-4166G>T) c.152-4166G>T n.360G>T c.7083G>T (p.Gln2361His) c.6888G>T (p.Gln2296His) c.7056G>T (p.Gln2352His) | |
16 | g.89279357C= | CA2241586661 | ANKRD11 | c.7185G= (p.Gln2395=) c.*6988G= (n.*6988G=) c.745-4166G= (n.745-4166G=) c.152-4166G= n.360G= c.7083G= (p.Gln2361=) c.6888G= (p.Gln2296=) c.7056G= (p.Gln2352=) | |
16 | g.89279357C>G | CA397149031 | ANKRD11 | c.7185G>C (p.Gln2395His) c.*6988G>C (n.*6988G>C) c.745-4166G>C (n.745-4166G>C) c.152-4166G>C n.360G>C c.7083G>C (p.Gln2361His) c.6888G>C (p.Gln2296His) c.7056G>C (p.Gln2352His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.89279357C>T | CA497372529 | ANKRD11 | c.7185G>A (p.Gln2395=) c.*6988G>A (n.*6988G>A) c.745-4166G>A (n.745-4166G>A) c.152-4166G>A n.360G>A c.7083G>A (p.Gln2361=) c.6888G>A (p.Gln2296=) c.7056G>A (p.Gln2352=) | gnomAD v4 |
16 | g.89279358T>A | CA397149036 | ANKRD11 | c.7184A>T (p.Gln2395Leu) c.*6987A>T (n.*6987A>T) c.745-4167A>T (n.745-4167A>T) c.152-4167A>T n.359A>T c.7082A>T (p.Gln2361Leu) c.6887A>T (p.Gln2296Leu) c.7055A>T (p.Gln2352Leu) | |
16 | g.89279358T>C | CA397149033 | ANKRD11 | c.7184A>G (p.Gln2395Arg) c.*6987A>G (n.*6987A>G) c.745-4167A>G (n.745-4167A>G) c.152-4167A>G n.359A>G c.7082A>G (p.Gln2361Arg) c.6887A>G (p.Gln2296Arg) c.7055A>G (p.Gln2352Arg) | gnomAD v4 |
16 | g.89279358T>G | CA8241287 | ANKRD11 | c.7184A>C (p.Gln2395Pro) c.*6987A>C (n.*6987A>C) c.745-4167A>C (n.745-4167A>C) c.152-4167A>C n.359A>C c.7082A>C (p.Gln2361Pro) c.6887A>C (p.Gln2296Pro) c.7055A>C (p.Gln2352Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279358T= | CA2241586662 | ANKRD11 | c.7184A= (p.Gln2395=) c.*6987A= (n.*6987A=) c.745-4167A= (n.745-4167A=) c.152-4167A= n.359A= c.7082A= (p.Gln2361=) c.6887A= (p.Gln2296=) c.7055A= (p.Gln2352=) | |
16 | g.89279359G>A | CA397149038 | ANKRD11 | c.7183C>T (p.Gln2395Ter) c.*6986C>T (n.*6986C>T) c.745-4168C>T (n.745-4168C>T) c.152-4168C>T n.358C>T c.7081C>T (p.Gln2361Ter) c.6886C>T (p.Gln2296Ter) c.7054C>T (p.Gln2352Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.89279359G>C | CA397149039 | ANKRD11 | c.7183C>G (p.Gln2395Glu) c.*6986C>G (n.*6986C>G) c.745-4168C>G (n.745-4168C>G) c.152-4168C>G n.358C>G c.7081C>G (p.Gln2361Glu) c.6886C>G (p.Gln2296Glu) c.7054C>G (p.Gln2352Glu) | |
16 | g.89279359G= | CA2241586663 | ANKRD11 | c.7183C= (p.Gln2395=) c.*6986C= (n.*6986C=) c.745-4168C= (n.745-4168C=) c.152-4168C= n.358C= c.7081C= (p.Gln2361=) c.6886C= (p.Gln2296=) c.7054C= (p.Gln2352=) | |
16 | g.89279359G>T | CA397149041 | ANKRD11 | c.7183C>A (p.Gln2395Lys) c.*6986C>A (n.*6986C>A) c.745-4168C>A (n.745-4168C>A) c.152-4168C>A n.358C>A c.7081C>A (p.Gln2361Lys) c.6886C>A (p.Gln2296Lys) c.7054C>A (p.Gln2352Lys) | |
16 | g.89279360C>A | CA397149042 | ANKRD11 | c.7182G>T (p.Gln2394His) c.*6985G>T (n.*6985G>T) c.745-4169G>T (n.745-4169G>T) c.152-4169G>T n.357G>T c.7080G>T (p.Gln2360His) c.6885G>T (p.Gln2295His) c.7053G>T (p.Gln2351His) | |
16 | g.89279360C= | CA2241586664 | ANKRD11 | c.7182G= (p.Gln2394=) c.*6985G= (n.*6985G=) c.745-4169G= (n.745-4169G=) c.152-4169G= n.357G= c.7080G= (p.Gln2360=) c.6885G= (p.Gln2295=) c.7053G= (p.Gln2351=) | |
16 | g.89279360C>G | CA397149044 | ANKRD11 | c.7182G>C (p.Gln2394His) c.*6985G>C (n.*6985G>C) c.745-4169G>C (n.745-4169G>C) c.152-4169G>C n.357G>C c.7080G>C (p.Gln2360His) c.6885G>C (p.Gln2295His) c.7053G>C (p.Gln2351His) | |
16 | g.89279360C>T | CA8241288 | ANKRD11 | c.7182G>A (p.Gln2394=) c.*6985G>A (n.*6985G>A) c.745-4169G>A (n.745-4169G>A) c.152-4169G>A n.357G>A c.7080G>A (p.Gln2360=) c.6885G>A (p.Gln2295=) c.7053G>A (p.Gln2351=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279361T>A | CA397149050 | ANKRD11 | c.7181A>T (p.Gln2394Leu) c.*6984A>T (n.*6984A>T) c.745-4170A>T (n.745-4170A>T) c.152-4170A>T n.356A>T c.7079A>T (p.Gln2360Leu) c.6884A>T (p.Gln2295Leu) c.7052A>T (p.Gln2351Leu) | |
16 | g.89279361T>C | CA397149049 | ANKRD11 | c.7181A>G (p.Gln2394Arg) c.*6984A>G (n.*6984A>G) c.745-4170A>G (n.745-4170A>G) c.152-4170A>G n.356A>G c.7079A>G (p.Gln2360Arg) c.6884A>G (p.Gln2295Arg) c.7052A>G (p.Gln2351Arg) | gnomAD v4 |
16 | g.89279361T>G | CA397149047 | ANKRD11 | c.7181A>C (p.Gln2394Pro) c.*6984A>C (n.*6984A>C) c.745-4170A>C (n.745-4170A>C) c.152-4170A>C n.356A>C c.7079A>C (p.Gln2360Pro) c.6884A>C (p.Gln2295Pro) c.7052A>C (p.Gln2351Pro) | |
16 | g.89279362G>A | CA279648 | ANKRD11 | c.7180C>T (p.Gln2394Ter) c.*6983C>T (n.*6983C>T) c.745-4171C>T (n.745-4171C>T) c.152-4171C>T n.355C>T c.7078C>T (p.Gln2360Ter) c.6883C>T (p.Gln2295Ter) c.7051C>T (p.Gln2351Ter) | ClinVar dbSNP |
16 | g.89279362G>C | CA397149051 | ANKRD11 | c.7180C>G (p.Gln2394Glu) c.*6983C>G (n.*6983C>G) c.745-4171C>G (n.745-4171C>G) c.152-4171C>G n.355C>G c.7078C>G (p.Gln2360Glu) c.6883C>G (p.Gln2295Glu) c.7051C>G (p.Gln2351Glu) | |
16 | g.89279362G= | CA2241586665 | ANKRD11 | c.7180C= (p.Gln2394=) c.*6983C= (n.*6983C=) c.745-4171C= (n.745-4171C=) c.152-4171C= n.355C= c.7078C= (p.Gln2360=) c.6883C= (p.Gln2295=) c.7051C= (p.Gln2351=) | |
16 | g.89279362G>T | CA397149053 | ANKRD11 | c.7180C>A (p.Gln2394Lys) c.*6983C>A (n.*6983C>A) c.745-4171C>A (n.745-4171C>A) c.152-4171C>A n.355C>A c.7078C>A (p.Gln2360Lys) c.6883C>A (p.Gln2295Lys) c.7051C>A (p.Gln2351Lys) | |
16 | g.89279363G>A | CA497372538 | ANKRD11 | c.7179C>T (p.Thr2393=) c.*6982C>T (n.*6982C>T) c.745-4172C>T (n.745-4172C>T) c.152-4172C>T n.354C>T c.7077C>T (p.Thr2359=) c.6882C>T (p.Thr2294=) c.7050C>T (p.Thr2350=) | |
16 | g.89279363G>C | CA497372539 | ANKRD11 | c.7179C>G (p.Thr2393=) c.*6982C>G (n.*6982C>G) c.745-4172C>G (n.745-4172C>G) c.152-4172C>G n.354C>G c.7077C>G (p.Thr2359=) c.6882C>G (p.Thr2294=) c.7050C>G (p.Thr2350=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279363G= | CA2241586666 | ANKRD11 | c.7179C= (p.Thr2393=) c.*6982C= (n.*6982C=) c.745-4172C= (n.745-4172C=) c.152-4172C= n.354C= c.7077C= (p.Thr2359=) c.6882C= (p.Thr2294=) c.7050C= (p.Thr2350=) | |
16 | g.89279363G>T | CA497372540 | ANKRD11 | c.7179C>A (p.Thr2393=) c.*6982C>A (n.*6982C>A) c.745-4172C>A (n.745-4172C>A) c.152-4172C>A n.354C>A c.7077C>A (p.Thr2359=) c.6882C>A (p.Thr2294=) c.7050C>A (p.Thr2350=) | gnomAD v4 |
16 | g.89279364G>A | CA397149054 | ANKRD11 | c.7178C>T (p.Thr2393Ile) c.*6981C>T (n.*6981C>T) c.745-4173C>T (n.745-4173C>T) c.152-4173C>T n.353C>T c.7076C>T (p.Thr2359Ile) c.6881C>T (p.Thr2294Ile) c.7049C>T (p.Thr2350Ile) | gnomAD v4 |
16 | g.89279364G>C | CA397149058 | ANKRD11 | c.7178C>G (p.Thr2393Ser) c.*6981C>G (n.*6981C>G) c.745-4173C>G (n.745-4173C>G) c.152-4173C>G n.353C>G c.7076C>G (p.Thr2359Ser) c.6881C>G (p.Thr2294Ser) c.7049C>G (p.Thr2350Ser) | dbSNP gnomAD v4 |
16 | g.89279364G= | CA2241586667 | ANKRD11 | c.7178C= (p.Thr2393=) c.*6981C= (n.*6981C=) c.745-4173C= (n.745-4173C=) c.152-4173C= n.353C= c.7076C= (p.Thr2359=) c.6881C= (p.Thr2294=) c.7049C= (p.Thr2350=) | |
16 | g.89279364G>T | CA397149056 | ANKRD11 | c.7178C>A (p.Thr2393Asn) c.*6981C>A (n.*6981C>A) c.745-4173C>A (n.745-4173C>A) c.152-4173C>A n.353C>A c.7076C>A (p.Thr2359Asn) c.6881C>A (p.Thr2294Asn) c.7049C>A (p.Thr2350Asn) | dbSNP gnomAD v4 |
16 | g.89279365T>A | CA397149059 | ANKRD11 | c.7177A>T (p.Thr2393Ser) c.*6980A>T (n.*6980A>T) c.745-4174A>T (n.745-4174A>T) c.152-4174A>T n.352A>T c.7075A>T (p.Thr2359Ser) c.6880A>T (p.Thr2294Ser) c.7048A>T (p.Thr2350Ser) | |
16 | g.89279365T>C | CA397149060 | ANKRD11 | c.7177A>G (p.Thr2393Ala) c.*6980A>G (n.*6980A>G) c.745-4174A>G (n.745-4174A>G) c.152-4174A>G n.352A>G c.7075A>G (p.Thr2359Ala) c.6880A>G (p.Thr2294Ala) c.7048A>G (p.Thr2350Ala) | |
16 | g.89279365T>G | CA397149062 | ANKRD11 | c.7177A>C (p.Thr2393Pro) c.*6980A>C (n.*6980A>C) c.745-4174A>C (n.745-4174A>C) c.152-4174A>C n.352A>C c.7075A>C (p.Thr2359Pro) c.6880A>C (p.Thr2294Pro) c.7048A>C (p.Thr2350Pro) | |
16 | g.89279366G>A | CA497372543 | ANKRD11 | c.7176C>T (p.Ser2392=) c.*6979C>T (n.*6979C>T) c.745-4175C>T (n.745-4175C>T) c.152-4175C>T n.351C>T c.7074C>T (p.Ser2358=) c.6879C>T (p.Ser2293=) c.7047C>T (p.Ser2349=) | gnomAD v4 |
16 | g.89279366G>C | CA497372546 | ANKRD11 | c.7176C>G (p.Ser2392=) c.*6979C>G (n.*6979C>G) c.745-4175C>G (n.745-4175C>G) c.152-4175C>G n.351C>G c.7074C>G (p.Ser2358=) c.6879C>G (p.Ser2293=) c.7047C>G (p.Ser2349=) | |
16 | g.89279366G>T | CA497372548 | ANKRD11 | c.7176C>A (p.Ser2392=) c.*6979C>A (n.*6979C>A) c.745-4175C>A (n.745-4175C>A) c.152-4175C>A n.351C>A c.7074C>A (p.Ser2358=) c.6879C>A (p.Ser2293=) c.7047C>A (p.Ser2349=) | |
16 | g.89279367G>A | CA397149064 | ANKRD11 | c.7175C>T (p.Ser2392Phe) c.*6978C>T (n.*6978C>T) c.745-4176C>T (n.745-4176C>T) c.152-4176C>T n.350C>T c.7073C>T (p.Ser2358Phe) c.6878C>T (p.Ser2293Phe) c.7046C>T (p.Ser2349Phe) | |
16 | g.89279367G>C | CA397149066 | ANKRD11 | c.7175C>G (p.Ser2392Cys) c.*6978C>G (n.*6978C>G) c.745-4176C>G (n.745-4176C>G) c.152-4176C>G n.350C>G c.7073C>G (p.Ser2358Cys) c.6878C>G (p.Ser2293Cys) c.7046C>G (p.Ser2349Cys) | |
16 | g.89279367G>T | CA397149067 | ANKRD11 | c.7175C>A (p.Ser2392Tyr) c.*6978C>A (n.*6978C>A) c.745-4176C>A (n.745-4176C>A) c.152-4176C>A n.350C>A c.7073C>A (p.Ser2358Tyr) c.6878C>A (p.Ser2293Tyr) c.7046C>A (p.Ser2349Tyr) | |
16 | g.89279368A>C | CA397149069 | ANKRD11 | c.7174T>G (p.Ser2392Ala) c.*6977T>G (n.*6977T>G) c.745-4177T>G (n.745-4177T>G) c.152-4177T>G n.349T>G c.7072T>G (p.Ser2358Ala) c.6877T>G (p.Ser2293Ala) c.7045T>G (p.Ser2349Ala) | |
16 | g.89279368A>G | CA397149070 | ANKRD11 | c.7174T>C (p.Ser2392Pro) c.*6977T>C (n.*6977T>C) c.745-4177T>C (n.745-4177T>C) c.152-4177T>C n.349T>C c.7072T>C (p.Ser2358Pro) c.6877T>C (p.Ser2293Pro) c.7045T>C (p.Ser2349Pro) | gnomAD v4 |
16 | g.89279368A>T | CA397149072 | ANKRD11 | c.7174T>A (p.Ser2392Thr) c.*6977T>A (n.*6977T>A) c.745-4177T>A (n.745-4177T>A) c.152-4177T>A n.349T>A c.7072T>A (p.Ser2358Thr) c.6877T>A (p.Ser2293Thr) c.7045T>A (p.Ser2349Thr) | |
16 | g.89279369G>A | CA497372553 | ANKRD11 | c.7173C>T (p.Arg2391=) c.*6976C>T (n.*6976C>T) c.745-4178C>T (n.745-4178C>T) c.152-4178C>T n.348C>T c.7071C>T (p.Arg2357=) c.6876C>T (p.Arg2292=) c.7044C>T (p.Arg2348=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89279369G>C | CA497372556 | ANKRD11 | c.7173C>G (p.Arg2391=) c.*6976C>G (n.*6976C>G) c.745-4178C>G (n.745-4178C>G) c.152-4178C>G n.348C>G c.7071C>G (p.Arg2357=) c.6876C>G (p.Arg2292=) c.7044C>G (p.Arg2348=) | |
16 | g.89279369G= | CA2241586668 | ANKRD11 | c.7173C= (p.Arg2391=) c.*6976C= (n.*6976C=) c.745-4178C= (n.745-4178C=) c.152-4178C= n.348C= c.7071C= (p.Arg2357=) c.6876C= (p.Arg2292=) c.7044C= (p.Arg2348=) | |
16 | g.89279369G>T | CA497372558 | ANKRD11 | c.7173C>A (p.Arg2391=) c.*6976C>A (n.*6976C>A) c.745-4178C>A (n.745-4178C>A) c.152-4178C>A n.348C>A c.7071C>A (p.Arg2357=) c.6876C>A (p.Arg2292=) c.7044C>A (p.Arg2348=) | |
16 | g.89279370C>A | CA397149074 | ANKRD11 | c.7172G>T (p.Arg2391Leu) c.*6975G>T (n.*6975G>T) c.745-4179G>T (n.745-4179G>T) c.152-4179G>T n.347G>T c.7070G>T (p.Arg2357Leu) c.6875G>T (p.Arg2292Leu) c.7043G>T (p.Arg2348Leu) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89279370C= | CA2241586669 | ANKRD11 | c.7172G= (p.Arg2391=) c.*6975G= (n.*6975G=) c.745-4179G= (n.745-4179G=) c.152-4179G= n.347G= c.7070G= (p.Arg2357=) c.6875G= (p.Arg2292=) c.7043G= (p.Arg2348=) | |
16 | g.89279370C>G | CA397149076 | ANKRD11 | c.7172G>C (p.Arg2391Pro) c.*6975G>C (n.*6975G>C) c.745-4179G>C (n.745-4179G>C) c.152-4179G>C n.347G>C c.7070G>C (p.Arg2357Pro) c.6875G>C (p.Arg2292Pro) c.7043G>C (p.Arg2348Pro) | gnomAD v4 |
16 | g.89279370C>T | CA397149078 | ANKRD11 | c.7172G>A (p.Arg2391His) c.*6975G>A (n.*6975G>A) c.745-4179G>A (n.745-4179G>A) c.152-4179G>A n.347G>A c.7070G>A (p.Arg2357His) c.6875G>A (p.Arg2292His) c.7043G>A (p.Arg2348His) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89279371G>A | CA397149083 | ANKRD11 | c.7171C>T (p.Arg2391Cys) c.*6974C>T (n.*6974C>T) c.745-4180C>T (n.745-4180C>T) c.152-4180C>T n.346C>T c.7069C>T (p.Arg2357Cys) c.6874C>T (p.Arg2292Cys) c.7042C>T (p.Arg2348Cys) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89279371G>C | CA397149079 | ANKRD11 | c.7171C>G (p.Arg2391Gly) c.*6974C>G (n.*6974C>G) c.745-4180C>G (n.745-4180C>G) c.152-4180C>G n.346C>G c.7069C>G (p.Arg2357Gly) c.6874C>G (p.Arg2292Gly) c.7042C>G (p.Arg2348Gly) | |
16 | g.89279371G= | CA2241586670 | ANKRD11 | c.7171C= (p.Arg2391=) c.*6974C= (n.*6974C=) c.745-4180C= (n.745-4180C=) c.152-4180C= n.346C= c.7069C= (p.Arg2357=) c.6874C= (p.Arg2292=) c.7042C= (p.Arg2348=) | |
16 | g.89279371G>T | CA397149081 | ANKRD11 | c.7171C>A (p.Arg2391Ser) c.*6974C>A (n.*6974C>A) c.745-4180C>A (n.745-4180C>A) c.152-4180C>A n.346C>A c.7069C>A (p.Arg2357Ser) c.6874C>A (p.Arg2292Ser) c.7042C>A (p.Arg2348Ser) | |
16 | g.89279372C>A | CA397149085 | ANKRD11 | c.7170G>T (p.Gln2390His) c.*6973G>T (n.*6973G>T) c.745-4181G>T (n.745-4181G>T) c.152-4181G>T n.345G>T c.7068G>T (p.Gln2356His) c.6873G>T (p.Gln2291His) c.7041G>T (p.Gln2347His) | gnomAD v4 |
16 | g.89279372C>G | CA397149086 | ANKRD11 | c.7170G>C (p.Gln2390His) c.*6973G>C (n.*6973G>C) c.745-4181G>C (n.745-4181G>C) c.152-4181G>C n.345G>C c.7068G>C (p.Gln2356His) c.6873G>C (p.Gln2291His) c.7041G>C (p.Gln2347His) | |
16 | g.89279372C>T | CA497372562 | ANKRD11 | c.7170G>A (p.Gln2390=) c.*6973G>A (n.*6973G>A) c.745-4181G>A (n.745-4181G>A) c.152-4181G>A n.345G>A c.7068G>A (p.Gln2356=) c.6873G>A (p.Gln2291=) c.7041G>A (p.Gln2347=) | |
16 | g.89279373T>A | CA397149089 | ANKRD11 | c.7169A>T (p.Gln2390Leu) c.*6972A>T (n.*6972A>T) c.745-4182A>T (n.745-4182A>T) c.152-4182A>T n.344A>T c.7067A>T (p.Gln2356Leu) c.6872A>T (p.Gln2291Leu) c.7040A>T (p.Gln2347Leu) | |
16 | g.89279373T>C | CA397149091 | ANKRD11 | c.7169A>G (p.Gln2390Arg) c.*6972A>G (n.*6972A>G) c.745-4182A>G (n.745-4182A>G) c.152-4182A>G n.344A>G c.7067A>G (p.Gln2356Arg) c.6872A>G (p.Gln2291Arg) c.7040A>G (p.Gln2347Arg) | gnomAD v4 |
16 | g.89279373T>G | CA397149092 | ANKRD11 | c.7169A>C (p.Gln2390Pro) c.*6972A>C (n.*6972A>C) c.745-4182A>C (n.745-4182A>C) c.152-4182A>C n.344A>C c.7067A>C (p.Gln2356Pro) c.6872A>C (p.Gln2291Pro) c.7040A>C (p.Gln2347Pro) | |
16 | g.89279374G>A | CA397149095 | ANKRD11 | c.7168C>T (p.Gln2390Ter) c.*6971C>T (n.*6971C>T) c.745-4183C>T (n.745-4183C>T) c.152-4183C>T n.343C>T c.7066C>T (p.Gln2356Ter) c.6871C>T (p.Gln2291Ter) c.7039C>T (p.Gln2347Ter) | ClinVar dbSNP gnomAD v4 |
16 | g.89279374G>C | CA397149097 | ANKRD11 | c.7168C>G (p.Gln2390Glu) c.*6971C>G (n.*6971C>G) c.745-4183C>G (n.745-4183C>G) c.152-4183C>G n.343C>G c.7066C>G (p.Gln2356Glu) c.6871C>G (p.Gln2291Glu) c.7039C>G (p.Gln2347Glu) | |
16 | g.89279374G>T | CA397149098 | ANKRD11 | c.7168C>A (p.Gln2390Lys) c.*6971C>A (n.*6971C>A) c.745-4183C>A (n.745-4183C>A) c.152-4183C>A n.343C>A c.7066C>A (p.Gln2356Lys) c.6871C>A (p.Gln2291Lys) c.7039C>A (p.Gln2347Lys) | |
16 | g.89279375A= | CA2241586671 | ANKRD11 | c.7167T= (p.Phe2389=) c.*6970T= (n.*6970T=) c.745-4184T= (n.745-4184T=) c.152-4184T= n.342T= c.7065T= (p.Phe2355=) c.6870T= (p.Phe2290=) c.7038T= (p.Phe2346=) | |
16 | g.89279375A>C | CA286509471 | ANKRD11 | c.7167T>G (p.Phe2389Leu) c.*6970T>G (n.*6970T>G) c.745-4184T>G (n.745-4184T>G) c.152-4184T>G n.342T>G c.7065T>G (p.Phe2355Leu) c.6870T>G (p.Phe2290Leu) c.7038T>G (p.Phe2346Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279375A>G | CA497372566 | ANKRD11 | c.7167T>C (p.Phe2389=) c.*6970T>C (n.*6970T>C) c.745-4184T>C (n.745-4184T>C) c.152-4184T>C n.342T>C c.7065T>C (p.Phe2355=) c.6870T>C (p.Phe2290=) c.7038T>C (p.Phe2346=) | gnomAD v4 |
16 | g.89279375A>T | CA397149101 | ANKRD11 | c.7167T>A (p.Phe2389Leu) c.*6970T>A (n.*6970T>A) c.745-4184T>A (n.745-4184T>A) c.152-4184T>A n.342T>A c.7065T>A (p.Phe2355Leu) c.6870T>A (p.Phe2290Leu) c.7038T>A (p.Phe2346Leu) | |
16 | g.89279377del | CA2576097088 | ANKRD11 | c.7167del (p.Gln2390SerfsTer11) c.*6970del (n.*6970del) c.745-4184del (n.745-4184del) c.152-4184del n.342del c.7065del (p.Gln2356SerfsTer11) c.6870del (p.Gln2291SerfsTer11) c.7038del (p.Gln2347SerfsTer11) | |
16 | g.89279376A>C | CA397149107 | ANKRD11 | c.7166T>G (p.Phe2389Cys) c.*6969T>G (n.*6969T>G) c.745-4185T>G (n.745-4185T>G) c.152-4185T>G n.341T>G c.7064T>G (p.Phe2355Cys) c.6869T>G (p.Phe2290Cys) c.7037T>G (p.Phe2346Cys) | |
16 | g.89279376A>G | CA397149105 | ANKRD11 | c.7166T>C (p.Phe2389Ser) c.*6969T>C (n.*6969T>C) c.745-4185T>C (n.745-4185T>C) c.152-4185T>C n.341T>C c.7064T>C (p.Phe2355Ser) c.6869T>C (p.Phe2290Ser) c.7037T>C (p.Phe2346Ser) | |
16 | g.89279376A>T | CA397149103 | ANKRD11 | c.7166T>A (p.Phe2389Tyr) c.*6969T>A (n.*6969T>A) c.745-4185T>A (n.745-4185T>A) c.152-4185T>A n.341T>A c.7064T>A (p.Phe2355Tyr) c.6869T>A (p.Phe2290Tyr) c.7037T>A (p.Phe2346Tyr) | |
16 | g.89279377A>C | CA397149109 | ANKRD11 | c.7165T>G (p.Phe2389Val) c.*6968T>G (n.*6968T>G) c.745-4186T>G (n.745-4186T>G) c.152-4186T>G n.340T>G c.7063T>G (p.Phe2355Val) c.6868T>G (p.Phe2290Val) c.7036T>G (p.Phe2346Val) | gnomAD v4 |
16 | g.89279377A>G | CA397149111 | ANKRD11 | c.7165T>C (p.Phe2389Leu) c.*6968T>C (n.*6968T>C) c.745-4186T>C (n.745-4186T>C) c.152-4186T>C n.340T>C c.7063T>C (p.Phe2355Leu) c.6868T>C (p.Phe2290Leu) c.7036T>C (p.Phe2346Leu) | gnomAD v4 |
16 | g.89279377A>T | CA397149113 | ANKRD11 | c.7165T>A (p.Phe2389Ile) c.*6968T>A (n.*6968T>A) c.745-4186T>A (n.745-4186T>A) c.152-4186T>A n.340T>A c.7063T>A (p.Phe2355Ile) c.6868T>A (p.Phe2290Ile) c.7036T>A (p.Phe2346Ile) | |
16 | g.89279378G>A | CA497372573 | ANKRD11 | c.7164C>T (p.Arg2388=) c.*6967C>T (n.*6967C>T) c.745-4187C>T (n.745-4187C>T) c.152-4187C>T n.339C>T c.7062C>T (p.Arg2354=) c.6867C>T (p.Arg2289=) c.7035C>T (p.Arg2345=) | |
16 | g.89279378G>C | CA497372574 | ANKRD11 | c.7164C>G (p.Arg2388=) c.*6967C>G (n.*6967C>G) c.745-4187C>G (n.745-4187C>G) c.152-4187C>G n.339C>G c.7062C>G (p.Arg2354=) c.6867C>G (p.Arg2289=) c.7035C>G (p.Arg2345=) | gnomAD v4 |
16 | g.89279378G>T | CA497372575 | ANKRD11 | c.7164C>A (p.Arg2388=) c.*6967C>A (n.*6967C>A) c.745-4187C>A (n.745-4187C>A) c.152-4187C>A n.339C>A c.7062C>A (p.Arg2354=) c.6867C>A (p.Arg2289=) c.7035C>A (p.Arg2345=) | |
16 | g.89279379C>A | CA397149114 | ANKRD11 | c.7163G>T (p.Arg2388Leu) c.*6966G>T (n.*6966G>T) c.745-4188G>T (n.745-4188G>T) c.152-4188G>T n.338G>T c.7061G>T (p.Arg2354Leu) c.6866G>T (p.Arg2289Leu) c.7034G>T (p.Arg2345Leu) | dbSNP gnomAD v4 |
16 | g.89279379C= | CA2241586672 | ANKRD11 | c.7163G= (p.Arg2388=) c.*6966G= (n.*6966G=) c.745-4188G= (n.745-4188G=) c.152-4188G= n.338G= c.7061G= (p.Arg2354=) c.6866G= (p.Arg2289=) c.7034G= (p.Arg2345=) | |
16 | g.89279379C>G | CA397149115 | ANKRD11 | c.7163G>C (p.Arg2388Pro) c.*6966G>C (n.*6966G>C) c.745-4188G>C (n.745-4188G>C) c.152-4188G>C n.338G>C c.7061G>C (p.Arg2354Pro) c.6866G>C (p.Arg2289Pro) c.7034G>C (p.Arg2345Pro) | |
16 | g.89279379C>T | CA397149117 | ANKRD11 | c.7163G>A (p.Arg2388His) c.*6966G>A (n.*6966G>A) c.745-4188G>A (n.745-4188G>A) c.152-4188G>A n.338G>A c.7061G>A (p.Arg2354His) c.6866G>A (p.Arg2289His) c.7034G>A (p.Arg2345His) | gnomAD v4 COSMIC |
16 | g.89279380G>A | CA397149119 | ANKRD11 | c.7162C>T (p.Arg2388Cys) c.*6965C>T (n.*6965C>T) c.745-4189C>T (n.745-4189C>T) c.152-4189C>T n.337C>T c.7060C>T (p.Arg2354Cys) c.6865C>T (p.Arg2289Cys) c.7033C>T (p.Arg2345Cys) | ClinVar dbSNP gnomAD v4 |
16 | g.89279380G>C | CA397149120 | ANKRD11 | c.7162C>G (p.Arg2388Gly) c.*6965C>G (n.*6965C>G) c.745-4189C>G (n.745-4189C>G) c.152-4189C>G n.337C>G c.7060C>G (p.Arg2354Gly) c.6865C>G (p.Arg2289Gly) c.7033C>G (p.Arg2345Gly) | |
16 | g.89279380G= | CA2241586673 | ANKRD11 | c.7162C= (p.Arg2388=) c.*6965C= (n.*6965C=) c.745-4189C= (n.745-4189C=) c.152-4189C= n.337C= c.7060C= (p.Arg2354=) c.6865C= (p.Arg2289=) c.7033C= (p.Arg2345=) | |
16 | g.89279380G>T | CA397149121 | ANKRD11 | c.7162C>A (p.Arg2388Ser) c.*6965C>A (n.*6965C>A) c.745-4189C>A (n.745-4189C>A) c.152-4189C>A n.337C>A c.7060C>A (p.Arg2354Ser) c.6865C>A (p.Arg2289Ser) c.7033C>A (p.Arg2345Ser) | gnomAD v4 |
16 | g.89279381G>A | CA8241289 | ANKRD11 | c.7161C>T (p.Arg2387=) c.*6964C>T (n.*6964C>T) c.745-4190C>T (n.745-4190C>T) c.152-4190C>T n.336C>T c.7059C>T (p.Arg2353=) c.6864C>T (p.Arg2288=) c.7032C>T (p.Arg2344=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89279381G>C | CA497372579 | ANKRD11 | c.7161C>G (p.Arg2387=) c.*6964C>G (n.*6964C>G) c.745-4190C>G (n.745-4190C>G) c.152-4190C>G n.336C>G c.7059C>G (p.Arg2353=) c.6864C>G (p.Arg2288=) c.7032C>G (p.Arg2344=) | |
16 | g.89279381G= | CA2241586674 | ANKRD11 | c.7161C= (p.Arg2387=) c.*6964C= (n.*6964C=) c.745-4190C= (n.745-4190C=) c.152-4190C= n.336C= c.7059C= (p.Arg2353=) c.6864C= (p.Arg2288=) c.7032C= (p.Arg2344=) | |
16 | g.89279381G>T | CA497372577 | ANKRD11 | c.7161C>A (p.Arg2387=) c.*6964C>A (n.*6964C>A) c.745-4190C>A (n.745-4190C>A) c.152-4190C>A n.336C>A c.7059C>A (p.Arg2353=) c.6864C>A (p.Arg2288=) c.7032C>A (p.Arg2344=) | gnomAD v4 |
16 | g.89279382C>A | CA397149125 | ANKRD11 | c.7160G>T (p.Arg2387Leu) c.*6963G>T (n.*6963G>T) c.745-4191G>T (n.745-4191G>T) c.152-4191G>T n.335G>T c.7058G>T (p.Arg2353Leu) c.6863G>T (p.Arg2288Leu) c.7031G>T (p.Arg2344Leu) | |
16 | g.89279382C= | CA2241586675 | ANKRD11 | c.7160G= (p.Arg2387=) c.*6963G= (n.*6963G=) c.745-4191G= (n.745-4191G=) c.152-4191G= n.335G= c.7058G= (p.Arg2353=) c.6863G= (p.Arg2288=) c.7031G= (p.Arg2344=) | |
16 | g.89279382C>G | CA397149127 | ANKRD11 | c.7160G>C (p.Arg2387Pro) c.*6963G>C (n.*6963G>C) c.745-4191G>C (n.745-4191G>C) c.152-4191G>C n.335G>C c.7058G>C (p.Arg2353Pro) c.6863G>C (p.Arg2288Pro) c.7031G>C (p.Arg2344Pro) | dbSNP gnomAD v2 |
16 | g.89279382C>T | CA397149129 | ANKRD11 | c.7160G>A (p.Arg2387His) c.*6963G>A (n.*6963G>A) c.745-4191G>A (n.745-4191G>A) c.152-4191G>A n.335G>A c.7058G>A (p.Arg2353His) c.6863G>A (p.Arg2288His) c.7031G>A (p.Arg2344His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.89279383G>A | CA397149132 | ANKRD11 | c.7159C>T (p.Arg2387Cys) c.*6962C>T (n.*6962C>T) c.745-4192C>T (n.745-4192C>T) c.152-4192C>T n.334C>T c.7057C>T (p.Arg2353Cys) c.6862C>T (p.Arg2288Cys) c.7030C>T (p.Arg2344Cys) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89279383G>C | CA397149135 | ANKRD11 | c.7159C>G (p.Arg2387Gly) c.*6962C>G (n.*6962C>G) c.745-4192C>G (n.745-4192C>G) c.152-4192C>G n.334C>G c.7057C>G (p.Arg2353Gly) c.6862C>G (p.Arg2288Gly) c.7030C>G (p.Arg2344Gly) | |
16 | g.89279383G= | CA2241586676 | ANKRD11 | c.7159C= (p.Arg2387=) c.*6962C= (n.*6962C=) c.745-4192C= (n.745-4192C=) c.152-4192C= n.334C= c.7057C= (p.Arg2353=) c.6862C= (p.Arg2288=) c.7030C= (p.Arg2344=) | |
16 | g.89279383G>T | CA397149133 | ANKRD11 | c.7159C>A (p.Arg2387Ser) c.*6962C>A (n.*6962C>A) c.745-4192C>A (n.745-4192C>A) c.152-4192C>A n.334C>A c.7057C>A (p.Arg2353Ser) c.6862C>A (p.Arg2288Ser) c.7030C>A (p.Arg2344Ser) | |
16 | g.89279384T>A | CA397149136 | ANKRD11 | c.7158A>T (p.Lys2386Asn) c.*6961A>T (n.*6961A>T) c.745-4193A>T (n.745-4193A>T) c.152-4193A>T n.333A>T c.7056A>T (p.Lys2352Asn) c.6861A>T (p.Lys2287Asn) c.7029A>T (p.Lys2343Asn) | |
16 | g.89279384T>C | CA497372586 | ANKRD11 | c.7158A>G (p.Lys2386=) c.*6961A>G (n.*6961A>G) c.745-4193A>G (n.745-4193A>G) c.152-4193A>G n.333A>G c.7056A>G (p.Lys2352=) c.6861A>G (p.Lys2287=) c.7029A>G (p.Lys2343=) | |
16 | g.89279384T>G | CA397149138 | ANKRD11 | c.7158A>C (p.Lys2386Asn) c.*6961A>C (n.*6961A>C) c.745-4193A>C (n.745-4193A>C) c.152-4193A>C n.333A>C c.7056A>C (p.Lys2352Asn) c.6861A>C (p.Lys2287Asn) c.7029A>C (p.Lys2343Asn) | |
16 | g.89279385T>A | CA397149140 | ANKRD11 | c.7157A>T (p.Lys2386Ile) c.*6960A>T (n.*6960A>T) c.745-4194A>T (n.745-4194A>T) c.152-4194A>T n.332A>T c.7055A>T (p.Lys2352Ile) c.6860A>T (p.Lys2287Ile) c.7028A>T (p.Lys2343Ile) | |
16 | g.89279385T>C | CA397149142 | ANKRD11 | c.7157A>G (p.Lys2386Arg) c.*6960A>G (n.*6960A>G) c.745-4194A>G (n.745-4194A>G) c.152-4194A>G n.332A>G c.7055A>G (p.Lys2352Arg) c.6860A>G (p.Lys2287Arg) c.7028A>G (p.Lys2343Arg) | |
16 | g.89279385T>G | CA397149144 | ANKRD11 | c.7157A>C (p.Lys2386Thr) c.*6960A>C (n.*6960A>C) c.745-4194A>C (n.745-4194A>C) c.152-4194A>C n.332A>C c.7055A>C (p.Lys2352Thr) c.6860A>C (p.Lys2287Thr) c.7028A>C (p.Lys2343Thr) | |
16 | g.89279386T>A | CA397149146 | ANKRD11 | c.7156A>T (p.Lys2386Ter) c.*6959A>T (n.*6959A>T) c.745-4195A>T (n.745-4195A>T) c.152-4195A>T n.331A>T c.7054A>T (p.Lys2352Ter) c.6859A>T (p.Lys2287Ter) c.7027A>T (p.Lys2343Ter) | |
16 | g.89279386T>C | CA397149148 | ANKRD11 | c.7156A>G (p.Lys2386Glu) c.*6959A>G (n.*6959A>G) c.745-4195A>G (n.745-4195A>G) c.152-4195A>G n.331A>G c.7054A>G (p.Lys2352Glu) c.6859A>G (p.Lys2287Glu) c.7027A>G (p.Lys2343Glu) | |
16 | g.89279386T>G | CA397149150 | ANKRD11 | c.7156A>C (p.Lys2386Gln) c.*6959A>C (n.*6959A>C) c.745-4195A>C (n.745-4195A>C) c.152-4195A>C n.331A>C c.7054A>C (p.Lys2352Gln) c.6859A>C (p.Lys2287Gln) c.7027A>C (p.Lys2343Gln) | |
16 | g.89279387G>A | CA497372591 | ANKRD11 | c.7155C>T (p.Arg2385=) c.*6958C>T (n.*6958C>T) c.745-4196C>T (n.745-4196C>T) c.152-4196C>T n.330C>T c.7053C>T (p.Arg2351=) c.6858C>T (p.Arg2286=) c.7026C>T (p.Arg2342=) | gnomAD v4 |
16 | g.89279387G>C | CA497372593 | ANKRD11 | c.7155C>G (p.Arg2385=) c.*6958C>G (n.*6958C>G) c.745-4196C>G (n.745-4196C>G) c.152-4196C>G n.330C>G c.7053C>G (p.Arg2351=) c.6858C>G (p.Arg2286=) c.7026C>G (p.Arg2342=) | dbSNP |
16 | g.89279387G= | CA2241586677 | ANKRD11 | c.7155C= (p.Arg2385=) c.*6958C= (n.*6958C=) c.745-4196C= (n.745-4196C=) c.152-4196C= n.330C= c.7053C= (p.Arg2351=) c.6858C= (p.Arg2286=) c.7026C= (p.Arg2342=) | |
16 | g.89279387G>T | CA497372594 | ANKRD11 | c.7155C>A (p.Arg2385=) c.*6958C>A (n.*6958C>A) c.745-4196C>A (n.745-4196C>A) c.152-4196C>A n.330C>A c.7053C>A (p.Arg2351=) c.6858C>A (p.Arg2286=) c.7026C>A (p.Arg2342=) | |
16 | g.89279388C>A | CA397149152 | ANKRD11 | c.7154G>T (p.Arg2385Leu) c.*6957G>T (n.*6957G>T) c.745-4197G>T (n.745-4197G>T) c.152-4197G>T n.329G>T c.7052G>T (p.Arg2351Leu) c.6857G>T (p.Arg2286Leu) c.7025G>T (p.Arg2342Leu) | gnomAD v4 |
16 | g.89279388C= | CA2241586678 | ANKRD11 | c.7154G= (p.Arg2385=) c.*6957G= (n.*6957G=) c.745-4197G= (n.745-4197G=) c.152-4197G= n.329G= c.7052G= (p.Arg2351=) c.6857G= (p.Arg2286=) c.7025G= (p.Arg2342=) | |
16 | g.89279388C>G | CA397149154 | ANKRD11 | c.7154G>C (p.Arg2385Pro) c.*6957G>C (n.*6957G>C) c.745-4197G>C (n.745-4197G>C) c.152-4197G>C n.329G>C c.7052G>C (p.Arg2351Pro) c.6857G>C (p.Arg2286Pro) c.7025G>C (p.Arg2342Pro) | |
16 | g.89279388C>T | CA397149156 | ANKRD11 | c.7154G>A (p.Arg2385His) c.*6957G>A (n.*6957G>A) c.745-4197G>A (n.745-4197G>A) c.152-4197G>A n.329G>A c.7052G>A (p.Arg2351His) c.6857G>A (p.Arg2286His) c.7025G>A (p.Arg2342His) | dbSNP gnomAD v4 |
16 | g.89279389G>A | CA397149160 | ANKRD11 | c.7153C>T (p.Arg2385Cys) c.*6956C>T (n.*6956C>T) c.745-4198C>T (n.745-4198C>T) c.152-4198C>T n.328C>T c.7051C>T (p.Arg2351Cys) c.6856C>T (p.Arg2286Cys) c.7024C>T (p.Arg2342Cys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.89279389G>C | CA397149162 | ANKRD11 | c.7153C>G (p.Arg2385Gly) c.*6956C>G (n.*6956C>G) c.745-4198C>G (n.745-4198C>G) c.152-4198C>G n.328C>G c.7051C>G (p.Arg2351Gly) c.6856C>G (p.Arg2286Gly) c.7024C>G (p.Arg2342Gly) | |
16 | g.89279389G= | CA2241586679 | ANKRD11 | c.7153C= (p.Arg2385=) c.*6956C= (n.*6956C=) c.745-4198C= (n.745-4198C=) c.152-4198C= n.328C= c.7051C= (p.Arg2351=) c.6856C= (p.Arg2286=) c.7024C= (p.Arg2342=) | |
16 | g.89279389G>T | CA397149158 | ANKRD11 | c.7153C>A (p.Arg2385Ser) c.*6956C>A (n.*6956C>A) c.745-4198C>A (n.745-4198C>A) c.152-4198C>A n.328C>A c.7051C>A (p.Arg2351Ser) c.6856C>A (p.Arg2286Ser) c.7024C>A (p.Arg2342Ser) | |
16 | g.89279390C>A | CA497372596 | ANKRD11 | c.7152G>T (p.Pro2384=) c.*6955G>T (n.*6955G>T) c.745-4199G>T (n.745-4199G>T) c.152-4199G>T n.327G>T c.7050G>T (p.Pro2350=) c.6855G>T (p.Pro2285=) c.7023G>T (p.Pro2341=) | |
16 | g.89279390C= | CA2241586680 | ANKRD11 | c.7152G= (p.Pro2384=) c.*6955G= (n.*6955G=) c.745-4199G= (n.745-4199G=) c.152-4199G= n.327G= c.7050G= (p.Pro2350=) c.6855G= (p.Pro2285=) c.7023G= (p.Pro2341=) | |
16 | g.89279390C>G | CA497372598 | ANKRD11 | c.7152G>C (p.Pro2384=) c.*6955G>C (n.*6955G>C) c.745-4199G>C (n.745-4199G>C) c.152-4199G>C n.327G>C c.7050G>C (p.Pro2350=) c.6855G>C (p.Pro2285=) c.7023G>C (p.Pro2341=) | |
16 | g.89279390C>T | CA497372599 | ANKRD11 | c.7152G>A (p.Pro2384=) c.*6955G>A (n.*6955G>A) c.745-4199G>A (n.745-4199G>A) c.152-4199G>A n.327G>A c.7050G>A (p.Pro2350=) c.6855G>A (p.Pro2285=) c.7023G>A (p.Pro2341=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279391G>A | CA397149164 | ANKRD11 | c.7151C>T (p.Pro2384Leu) c.*6954C>T (n.*6954C>T) c.745-4200C>T (n.745-4200C>T) c.152-4200C>T n.326C>T c.7049C>T (p.Pro2350Leu) c.6854C>T (p.Pro2285Leu) c.7022C>T (p.Pro2341Leu) | gnomAD v4 |
16 | g.89279391G>C | CA397149166 | ANKRD11 | c.7151C>G (p.Pro2384Arg) c.*6954C>G (n.*6954C>G) c.745-4200C>G (n.745-4200C>G) c.152-4200C>G n.326C>G c.7049C>G (p.Pro2350Arg) c.6854C>G (p.Pro2285Arg) c.7022C>G (p.Pro2341Arg) | |
16 | g.89279391G>T | CA397149167 | ANKRD11 | c.7151C>A (p.Pro2384Gln) c.*6954C>A (n.*6954C>A) c.745-4200C>A (n.745-4200C>A) c.152-4200C>A n.326C>A c.7049C>A (p.Pro2350Gln) c.6854C>A (p.Pro2285Gln) c.7022C>A (p.Pro2341Gln) | |
16 | g.89279392del | CA2573152858 | ANKRD11 | c.7151del (p.Pro2384ArgfsTer17) c.*6954del (n.*6954del) c.745-4200del (n.745-4200del) c.152-4200del n.326del c.7049del (p.Pro2350ArgfsTer17) c.6854del (p.Pro2285ArgfsTer17) c.7022del (p.Pro2341ArgfsTer17) | dbSNP |
16 | g.89279392G>A | CA397149170 | ANKRD11 | c.7150C>T (p.Pro2384Ser) c.*6953C>T (n.*6953C>T) c.745-4201C>T (n.745-4201C>T) c.152-4201C>T n.325C>T c.7048C>T (p.Pro2350Ser) c.6853C>T (p.Pro2285Ser) c.7021C>T (p.Pro2341Ser) | |
16 | g.89279392G>C | CA397149172 | ANKRD11 | c.7150C>G (p.Pro2384Ala) c.*6953C>G (n.*6953C>G) c.745-4201C>G (n.745-4201C>G) c.152-4201C>G n.325C>G c.7048C>G (p.Pro2350Ala) c.6853C>G (p.Pro2285Ala) c.7021C>G (p.Pro2341Ala) | |
16 | g.89279392G>T | CA397149174 | ANKRD11 | c.7150C>A (p.Pro2384Thr) c.*6953C>A (n.*6953C>A) c.745-4201C>A (n.745-4201C>A) c.152-4201C>A n.325C>A c.7048C>A (p.Pro2350Thr) c.6853C>A (p.Pro2285Thr) c.7021C>A (p.Pro2341Thr) | |
16 | g.89279392_89279393delinsTT | CA2580613926 | ANKRD11 | c.7149_7150delinsAA (p.His2383_Pro2384delinsGlnThr) c.*6952_*6953delinsAA (n.*6952_*6953delinsAA) c.745-4202_745-4201delinsAA (n.745-4202_745-4201delinsAA) c.152-4202_152-4201delinsAA n.324_325delinsAA c.7047_7048delinsAA (p.His2349_Pro2350delinsGlnThr) c.6852_6853delinsAA (p.His2284_Pro2285delinsGlnThr) c.7020_7021delinsAA (p.His2340_Pro2341delinsGlnThr) | ClinVar |
16 | g.89279393A= | CA2241586681 | ANKRD11 | c.7149T= (p.His2383=) c.*6952T= (n.*6952T=) c.745-4202T= (n.745-4202T=) c.152-4202T= n.324T= c.7047T= (p.His2349=) c.6852T= (p.His2284=) c.7020T= (p.His2340=) | |
16 | g.89279393A>C | CA397149176 | ANKRD11 | c.7149T>G (p.His2383Gln) c.*6952T>G (n.*6952T>G) c.745-4202T>G (n.745-4202T>G) c.152-4202T>G n.324T>G c.7047T>G (p.His2349Gln) c.6852T>G (p.His2284Gln) c.7020T>G (p.His2340Gln) | dbSNP gnomAD v4 |
16 | g.89279393A>G | CA497372605 | ANKRD11 | c.7149T>C (p.His2383=) c.*6952T>C (n.*6952T>C) c.745-4202T>C (n.745-4202T>C) c.152-4202T>C n.324T>C c.7047T>C (p.His2349=) c.6852T>C (p.His2284=) c.7020T>C (p.His2340=) | |
16 | g.89279393A>T | CA397149177 | ANKRD11 | c.7149T>A (p.His2383Gln) c.*6952T>A (n.*6952T>A) c.745-4202T>A (n.745-4202T>A) c.152-4202T>A n.324T>A c.7047T>A (p.His2349Gln) c.6852T>A (p.His2284Gln) c.7020T>A (p.His2340Gln) | |
16 | g.89279394T>A | CA397149179 | ANKRD11 | c.7148A>T (p.His2383Leu) c.*6951A>T (n.*6951A>T) c.745-4203A>T (n.745-4203A>T) c.152-4203A>T n.323A>T c.7046A>T (p.His2349Leu) c.6851A>T (p.His2284Leu) c.7019A>T (p.His2340Leu) | |
16 | g.89279394T>C | CA397149181 | ANKRD11 | c.7148A>G (p.His2383Arg) c.*6951A>G (n.*6951A>G) c.745-4203A>G (n.745-4203A>G) c.152-4203A>G n.323A>G c.7046A>G (p.His2349Arg) c.6851A>G (p.His2284Arg) c.7019A>G (p.His2340Arg) | |
16 | g.89279394T>G | CA397149183 | ANKRD11 | c.7148A>C (p.His2383Pro) c.*6951A>C (n.*6951A>C) c.745-4203A>C (n.745-4203A>C) c.152-4203A>C n.323A>C c.7046A>C (p.His2349Pro) c.6851A>C (p.His2284Pro) c.7019A>C (p.His2340Pro) | |
16 | g.89279395G>A | CA397149185 | ANKRD11 | c.7147C>T (p.His2383Tyr) c.*6950C>T (n.*6950C>T) c.745-4204C>T (n.745-4204C>T) c.152-4204C>T n.322C>T c.7045C>T (p.His2349Tyr) c.6850C>T (p.His2284Tyr) c.7018C>T (p.His2340Tyr) | ClinVar dbSNP gnomAD v4 |
16 | g.89279395G>C | CA397149186 | ANKRD11 | c.7147C>G (p.His2383Asp) c.*6950C>G (n.*6950C>G) c.745-4204C>G (n.745-4204C>G) c.152-4204C>G n.322C>G c.7045C>G (p.His2349Asp) c.6850C>G (p.His2284Asp) c.7018C>G (p.His2340Asp) | |
16 | g.89279395G= | CA2241586682 | ANKRD11 | c.7147C= (p.His2383=) c.*6950C= (n.*6950C=) c.745-4204C= (n.745-4204C=) c.152-4204C= n.322C= c.7045C= (p.His2349=) c.6850C= (p.His2284=) c.7018C= (p.His2340=) | |
16 | g.89279395G>T | CA397149188 | ANKRD11 | c.7147C>A (p.His2383Asn) c.*6950C>A (n.*6950C>A) c.745-4204C>A (n.745-4204C>A) c.152-4204C>A n.322C>A c.7045C>A (p.His2349Asn) c.6850C>A (p.His2284Asn) c.7018C>A (p.His2340Asn) | gnomAD v4 |
16 | g.89279396C>A | CA397149191 | ANKRD11 | c.7146G>T (p.Gln2382His) c.*6949G>T (n.*6949G>T) c.745-4205G>T (n.745-4205G>T) c.152-4205G>T n.321G>T c.7044G>T (p.Gln2348His) c.6849G>T (p.Gln2283His) c.7017G>T (p.Gln2339His) | |
16 | g.89279396C>G | CA397149190 | ANKRD11 | c.7146G>C (p.Gln2382His) c.*6949G>C (n.*6949G>C) c.745-4205G>C (n.745-4205G>C) c.152-4205G>C n.321G>C c.7044G>C (p.Gln2348His) c.6849G>C (p.Gln2283His) c.7017G>C (p.Gln2339His) | |
16 | g.89279396C>T | CA497372608 | ANKRD11 | c.7146G>A (p.Gln2382=) c.*6949G>A (n.*6949G>A) c.745-4205G>A (n.745-4205G>A) c.152-4205G>A n.321G>A c.7044G>A (p.Gln2348=) c.6849G>A (p.Gln2283=) c.7017G>A (p.Gln2339=) | gnomAD v4 |
16 | g.89279397T>A | CA397149193 | ANKRD11 | c.7145A>T (p.Gln2382Leu) c.*6948A>T (n.*6948A>T) c.745-4206A>T (n.745-4206A>T) c.152-4206A>T n.320A>T c.7043A>T (p.Gln2348Leu) c.6848A>T (p.Gln2283Leu) c.7016A>T (p.Gln2339Leu) | |
16 | g.89279397T>C | CA397149195 | ANKRD11 | c.7145A>G (p.Gln2382Arg) c.*6948A>G (n.*6948A>G) c.745-4206A>G (n.745-4206A>G) c.152-4206A>G n.320A>G c.7043A>G (p.Gln2348Arg) c.6848A>G (p.Gln2283Arg) c.7016A>G (p.Gln2339Arg) | |
16 | g.89279397T>G | CA397149196 | ANKRD11 | c.7145A>C (p.Gln2382Pro) c.*6948A>C (n.*6948A>C) c.745-4206A>C (n.745-4206A>C) c.152-4206A>C n.320A>C c.7043A>C (p.Gln2348Pro) c.6848A>C (p.Gln2283Pro) c.7016A>C (p.Gln2339Pro) | |
16 | g.89279397T= | CA2241586683 | ANKRD11 | c.7145A= (p.Gln2382=) c.*6948A= (n.*6948A=) c.745-4206A= (n.745-4206A=) c.152-4206A= n.320A= c.7043A= (p.Gln2348=) c.6848A= (p.Gln2283=) c.7016A= (p.Gln2339=) | |
16 | g.89279398G>A | CA397149199 | ANKRD11 | c.7144C>T (p.Gln2382Ter) c.*6947C>T (n.*6947C>T) c.745-4207C>T (n.745-4207C>T) c.152-4207C>T n.319C>T c.7042C>T (p.Gln2348Ter) c.6847C>T (p.Gln2283Ter) c.7015C>T (p.Gln2339Ter) | ClinVar dbSNP |
16 | g.89279398G>C | CA397149200 | ANKRD11 | c.7144C>G (p.Gln2382Glu) c.*6947C>G (n.*6947C>G) c.745-4207C>G (n.745-4207C>G) c.152-4207C>G n.319C>G c.7042C>G (p.Gln2348Glu) c.6847C>G (p.Gln2283Glu) c.7015C>G (p.Gln2339Glu) | |
16 | g.89279398G>T | CA397149202 | ANKRD11 | c.7144C>A (p.Gln2382Lys) c.*6947C>A (n.*6947C>A) c.745-4207C>A (n.745-4207C>A) c.152-4207C>A n.319C>A c.7042C>A (p.Gln2348Lys) c.6847C>A (p.Gln2283Lys) c.7015C>A (p.Gln2339Lys) | |
16 | g.89279400dup | CA915949406 | ANKRD11 | c.7144dup (p.Gln2382ProfsTer?) c.*6947dup (n.*6947dup) c.745-4207dup (n.745-4207dup) c.152-4207dup n.319dup c.7042dup (p.Gln2348ProfsTer?) c.6847dup (p.Gln2283ProfsTer?) c.7015dup (p.Gln2339ProfsTer?) | ClinVar dbSNP |
16 | g.89279399G>A | CA497372613 | ANKRD11 | c.7143C>T (p.Ala2381=) c.*6946C>T (n.*6946C>T) c.745-4208C>T (n.745-4208C>T) c.152-4208C>T n.318C>T c.7041C>T (p.Ala2347=) c.6846C>T (p.Ala2282=) c.7014C>T (p.Ala2338=) | |
16 | g.89279399G>C | CA497372615 | ANKRD11 | c.7143C>G (p.Ala2381=) c.*6946C>G (n.*6946C>G) c.745-4208C>G (n.745-4208C>G) c.152-4208C>G n.318C>G c.7041C>G (p.Ala2347=) c.6846C>G (p.Ala2282=) c.7014C>G (p.Ala2338=) | gnomAD v4 |
16 | g.89279399G= | CA2241586684 | ANKRD11 | c.7143C= (p.Ala2381=) c.*6946C= (n.*6946C=) c.745-4208C= (n.745-4208C=) c.152-4208C= n.318C= c.7041C= (p.Ala2347=) c.6846C= (p.Ala2282=) c.7014C= (p.Ala2338=) | |
16 | g.89279399G>T | CA497372616 | ANKRD11 | c.7143C>A (p.Ala2381=) c.*6946C>A (n.*6946C>A) c.745-4208C>A (n.745-4208C>A) c.152-4208C>A n.318C>A c.7041C>A (p.Ala2347=) c.6846C>A (p.Ala2282=) c.7014C>A (p.Ala2338=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89279400G>A | CA397149216 | ANKRD11 | c.7142C>T (p.Ala2381Val) c.*6945C>T (n.*6945C>T) c.745-4209C>T (n.745-4209C>T) c.152-4209C>T n.317C>T c.7040C>T (p.Ala2347Val) c.6845C>T (p.Ala2282Val) c.7013C>T (p.Ala2338Val) | |
16 | g.89279400G>C | CA397149212 | ANKRD11 | c.7142C>G (p.Ala2381Gly) c.*6945C>G (n.*6945C>G) c.745-4209C>G (n.745-4209C>G) c.152-4209C>G n.317C>G c.7040C>G (p.Ala2347Gly) c.6845C>G (p.Ala2282Gly) c.7013C>G (p.Ala2338Gly) | |
16 | g.89279400G>T | CA397149214 | ANKRD11 | c.7142C>A (p.Ala2381Asp) c.*6945C>A (n.*6945C>A) c.745-4209C>A (n.745-4209C>A) c.152-4209C>A n.317C>A c.7040C>A (p.Ala2347Asp) c.6845C>A (p.Ala2282Asp) c.7013C>A (p.Ala2338Asp) | |
16 | g.89279401C>A | CA397149217 | ANKRD11 | c.7141G>T (p.Ala2381Ser) c.*6944G>T (n.*6944G>T) c.745-4210G>T (n.745-4210G>T) c.152-4210G>T n.316G>T c.7039G>T (p.Ala2347Ser) c.6844G>T (p.Ala2282Ser) c.7012G>T (p.Ala2338Ser) | gnomAD v4 |
16 | g.89279401C= | CA2241586685 | ANKRD11 | c.7141G= (p.Ala2381=) c.*6944G= (n.*6944G=) c.745-4210G= (n.745-4210G=) c.152-4210G= n.316G= c.7039G= (p.Ala2347=) c.6844G= (p.Ala2282=) c.7012G= (p.Ala2338=) | |
16 | g.89279401C>G | CA397149218 | ANKRD11 | c.7141G>C (p.Ala2381Pro) c.*6944G>C (n.*6944G>C) c.745-4210G>C (n.745-4210G>C) c.152-4210G>C n.316G>C c.7039G>C (p.Ala2347Pro) c.6844G>C (p.Ala2282Pro) c.7012G>C (p.Ala2338Pro) | gnomAD v4 |
16 | g.89279401C>T | CA286509474 | ANKRD11 | c.7141G>A (p.Ala2381Thr) c.*6944G>A (n.*6944G>A) c.745-4210G>A (n.745-4210G>A) c.152-4210G>A n.316G>A c.7039G>A (p.Ala2347Thr) c.6844G>A (p.Ala2282Thr) c.7012G>A (p.Ala2338Thr) | dbSNP gnomAD v4 |
16 | g.89279402C>A | CA397149223 | ANKRD11 | c.7140G>T (p.Gln2380His) c.*6943G>T (n.*6943G>T) c.745-4211G>T (n.745-4211G>T) c.152-4211G>T n.315G>T c.7038G>T (p.Gln2346His) c.6843G>T (p.Gln2281His) c.7011G>T (p.Gln2337His) | |
16 | g.89279402C= | CA2241586686 | ANKRD11 | c.7140G= (p.Gln2380=) c.*6943G= (n.*6943G=) c.745-4211G= (n.745-4211G=) c.152-4211G= n.315G= c.7038G= (p.Gln2346=) c.6843G= (p.Gln2281=) c.7011G= (p.Gln2337=) | |
16 | g.89279402C>G | CA397149225 | ANKRD11 | c.7140G>C (p.Gln2380His) c.*6943G>C (n.*6943G>C) c.745-4211G>C (n.745-4211G>C) c.152-4211G>C n.315G>C c.7038G>C (p.Gln2346His) c.6843G>C (p.Gln2281His) c.7011G>C (p.Gln2337His) | |
16 | g.89279402C>T | CA497372622 | ANKRD11 | c.7140G>A (p.Gln2380=) c.*6943G>A (n.*6943G>A) c.745-4211G>A (n.745-4211G>A) c.152-4211G>A n.315G>A c.7038G>A (p.Gln2346=) c.6843G>A (p.Gln2281=) c.7011G>A (p.Gln2337=) | dbSNP |
16 | g.89279403T>A | CA397149226 | ANKRD11 | c.7139A>T (p.Gln2380Leu) c.*6942A>T (n.*6942A>T) c.745-4212A>T (n.745-4212A>T) c.152-4212A>T n.314A>T c.7037A>T (p.Gln2346Leu) c.6842A>T (p.Gln2281Leu) c.7010A>T (p.Gln2337Leu) | |
16 | g.89279403T>C | CA397149230 | ANKRD11 | c.7139A>G (p.Gln2380Arg) c.*6942A>G (n.*6942A>G) c.745-4212A>G (n.745-4212A>G) c.152-4212A>G n.314A>G c.7037A>G (p.Gln2346Arg) c.6842A>G (p.Gln2281Arg) c.7010A>G (p.Gln2337Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279403T>G | CA397149228 | ANKRD11 | c.7139A>C (p.Gln2380Pro) c.*6942A>C (n.*6942A>C) c.745-4212A>C (n.745-4212A>C) c.152-4212A>C n.314A>C c.7037A>C (p.Gln2346Pro) c.6842A>C (p.Gln2281Pro) c.7010A>C (p.Gln2337Pro) | |
16 | g.89279403T= | CA2241586687 | ANKRD11 | c.7139A= (p.Gln2380=) c.*6942A= (n.*6942A=) c.745-4212A= (n.745-4212A=) c.152-4212A= n.314A= c.7037A= (p.Gln2346=) c.6842A= (p.Gln2281=) c.7010A= (p.Gln2337=) | |
16 | g.89279404G>A | CA16608326 | ANKRD11 | c.7138C>T (p.Gln2380Ter) c.*6941C>T (n.*6941C>T) c.745-4213C>T (n.745-4213C>T) c.152-4213C>T n.313C>T c.7036C>T (p.Gln2346Ter) c.6841C>T (p.Gln2281Ter) c.7009C>T (p.Gln2337Ter) | ClinVar dbSNP |
16 | g.89279404G>C | CA397149232 | ANKRD11 | c.7138C>G (p.Gln2380Glu) c.*6941C>G (n.*6941C>G) c.745-4213C>G (n.745-4213C>G) c.152-4213C>G n.313C>G c.7036C>G (p.Gln2346Glu) c.6841C>G (p.Gln2281Glu) c.7009C>G (p.Gln2337Glu) | gnomAD v4 |
16 | g.89279404G= | CA2241586688 | ANKRD11 | c.7138C= (p.Gln2380=) c.*6941C= (n.*6941C=) c.745-4213C= (n.745-4213C=) c.152-4213C= n.313C= c.7036C= (p.Gln2346=) c.6841C= (p.Gln2281=) c.7009C= (p.Gln2337=) | |
16 | g.89279404G>T | CA397149233 | ANKRD11 | c.7138C>A (p.Gln2380Lys) c.*6941C>A (n.*6941C>A) c.745-4213C>A (n.745-4213C>A) c.152-4213C>A n.313C>A c.7036C>A (p.Gln2346Lys) c.6841C>A (p.Gln2281Lys) c.7009C>A (p.Gln2337Lys) | |
16 | g.89279404_89279434delinsGGGCGTCGTCGTCCTCGGAGCCGCGGGCCTT | CA2241586689 | ANKRD11 | c.7108_7138delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC (p.Lys2370=) c.*6911_*6941delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC (n.*6911_*6941delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC) c.745-4243_745-4213delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC (n.745-4243_745-4213delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC) c.152-4243_152-4213delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC n.283_313delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC c.7006_7036delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC (p.Lys2336=) c.6811_6841delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC (p.Lys2271=) c.6979_7009delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC (p.Lys2327=) | |
16 | g.89279405G>A | CA497372624 | ANKRD11 | c.7137C>T (p.Ala2379=) c.*6940C>T (n.*6940C>T) c.745-4214C>T (n.745-4214C>T) c.152-4214C>T n.312C>T c.7035C>T (p.Ala2345=) c.6840C>T (p.Ala2280=) c.7008C>T (p.Ala2336=) | |
16 | g.89279405G>C | CA497372625 | ANKRD11 | c.7137C>G (p.Ala2379=) c.*6940C>G (n.*6940C>G) c.745-4214C>G (n.745-4214C>G) c.152-4214C>G n.312C>G c.7035C>G (p.Ala2345=) c.6840C>G (p.Ala2280=) c.7008C>G (p.Ala2336=) | |
16 | g.89279405G>T | CA497372626 | ANKRD11 | c.7137C>A (p.Ala2379=) c.*6940C>A (n.*6940C>A) c.745-4214C>A (n.745-4214C>A) c.152-4214C>A n.312C>A c.7035C>A (p.Ala2345=) c.6840C>A (p.Ala2280=) c.7008C>A (p.Ala2336=) | |
16 | g.89279405_89279407delinsGGC | CA2241586691 | ANKRD11 | c.7135_7137delinsGCC (p.Ala2379=) c.*6938_*6940delinsGCC (n.*6938_*6940delinsGCC) c.745-4216_745-4214delinsGCC (n.745-4216_745-4214delinsGCC) c.152-4216_152-4214delinsGCC n.310_312delinsGCC c.7033_7035delinsGCC (p.Ala2345=) c.6838_6840delinsGCC (p.Ala2280=) c.7006_7008delinsGCC (p.Ala2336=) | |
16 | g.89279408_89279437del | CA2241586690 | ANKRD11 | c.7108_7137del (p.Lys2370_Ala2379del) c.*6911_*6940del (n.*6911_*6940del) c.745-4243_745-4214del (n.745-4243_745-4214del) c.152-4243_152-4214del n.283_312del c.7006_7035del (p.Lys2336_Ala2345del) c.6811_6840del (p.Lys2271_Ala2280del) c.6979_7008del (p.Lys2327_Ala2336del) | dbSNP |
16 | g.89279406G>A | CA397149236 | ANKRD11 | c.7136C>T (p.Ala2379Val) c.*6939C>T (n.*6939C>T) c.745-4215C>T (n.745-4215C>T) c.152-4215C>T n.311C>T c.7034C>T (p.Ala2345Val) c.6839C>T (p.Ala2280Val) c.7007C>T (p.Ala2336Val) | gnomAD v4 |
16 | g.89279406G>C | CA286509479 | ANKRD11 | c.7136C>G (p.Ala2379Gly) c.*6939C>G (n.*6939C>G) c.745-4215C>G (n.745-4215C>G) c.152-4215C>G n.311C>G c.7034C>G (p.Ala2345Gly) c.6839C>G (p.Ala2280Gly) c.7007C>G (p.Ala2336Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279406G= | CA2241586693 | ANKRD11 | c.7136C= (p.Ala2379=) c.*6939C= (n.*6939C=) c.745-4215C= (n.745-4215C=) c.152-4215C= n.311C= c.7034C= (p.Ala2345=) c.6839C= (p.Ala2280=) c.7007C= (p.Ala2336=) | |
16 | g.89279406G>T | CA397149239 | ANKRD11 | c.7136C>A (p.Ala2379Asp) c.*6939C>A (n.*6939C>A) c.745-4215C>A (n.745-4215C>A) c.152-4215C>A n.311C>A c.7034C>A (p.Ala2345Asp) c.6839C>A (p.Ala2280Asp) c.7007C>A (p.Ala2336Asp) | gnomAD v4 |
16 | g.89279407_89279408del | CA980389759 | ANKRD11 | c.7135_7136del (p.Ala2379ProfsTer?) c.*6938_*6939del (n.*6938_*6939del) c.745-4216_745-4215del (n.745-4216_745-4215del) c.152-4216_152-4215del n.310_311del c.7033_7034del (p.Ala2345ProfsTer?) c.6838_6839del (p.Ala2280ProfsTer?) c.7006_7007del (p.Ala2336ProfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89279406_89279409delinsGCGT | CA2241586692 | ANKRD11 | c.7133_7136delinsACGC (p.Asp2378=) c.*6936_*6939delinsACGC (n.*6936_*6939delinsACGC) c.745-4218_745-4215delinsACGC (n.745-4218_745-4215delinsACGC) c.152-4218_152-4215delinsACGC n.308_311delinsACGC c.7031_7034delinsACGC (p.Asp2344=) c.6836_6839delinsACGC (p.Asp2279=) c.7004_7007delinsACGC (p.Asp2335=) | |
16 | g.89279407C>A | CA397149242 | ANKRD11 | c.7135G>T (p.Ala2379Ser) c.*6938G>T (n.*6938G>T) c.745-4216G>T (n.745-4216G>T) c.152-4216G>T n.310G>T c.7033G>T (p.Ala2345Ser) c.6838G>T (p.Ala2280Ser) c.7006G>T (p.Ala2336Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279407C= | CA2241586694 | ANKRD11 | c.7135G= (p.Ala2379=) c.*6938G= (n.*6938G=) c.745-4216G= (n.745-4216G=) c.152-4216G= n.310G= c.7033G= (p.Ala2345=) c.6838G= (p.Ala2280=) c.7006G= (p.Ala2336=) | |
16 | g.89279407C>G | CA397149244 | ANKRD11 | c.7135G>C (p.Ala2379Pro) c.*6938G>C (n.*6938G>C) c.745-4216G>C (n.745-4216G>C) c.152-4216G>C n.310G>C c.7033G>C (p.Ala2345Pro) c.6838G>C (p.Ala2280Pro) c.7006G>C (p.Ala2336Pro) | |
16 | g.89279407C>T | CA397149246 | ANKRD11 | c.7135G>A (p.Ala2379Thr) c.*6938G>A (n.*6938G>A) c.745-4216G>A (n.745-4216G>A) c.152-4216G>A n.310G>A c.7033G>A (p.Ala2345Thr) c.6838G>A (p.Ala2280Thr) c.7006G>A (p.Ala2336Thr) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89279414_89279416dup | CA2808088001 | ANKRD11 | c.7133_7135dup (p.Asp2378_Ala2379insAsp) c.*6936_*6938dup (n.*6936_*6938dup) c.745-4218_745-4216dup (n.745-4218_745-4216dup) c.152-4218_152-4216dup n.308_310dup c.7031_7033dup (p.Asp2344_Ala2345insAsp) c.6836_6838dup (p.Asp2279_Ala2280insAsp) c.7004_7006dup (p.Asp2335_Ala2336insAsp) | |
16 | g.89279414_89279416del | CA8241290 | ANKRD11 | c.7133_7135del (p.Asp2378del) c.*6936_*6938del (n.*6936_*6938del) c.745-4218_745-4216del (n.745-4218_745-4216del) c.152-4218_152-4216del n.308_310del c.7031_7033del (p.Asp2344del) c.6836_6838del (p.Asp2279del) c.7004_7006del (p.Asp2335del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89279408G>A | CA497372637 | ANKRD11 | c.7134C>T (p.Asp2378=) c.*6937C>T (n.*6937C>T) c.745-4217C>T (n.745-4217C>T) c.152-4217C>T n.309C>T c.7032C>T (p.Asp2344=) c.6837C>T (p.Asp2279=) c.7005C>T (p.Asp2335=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.89279408G>C | CA397149249 | ANKRD11 | c.7134C>G (p.Asp2378Glu) c.*6937C>G (n.*6937C>G) c.745-4217C>G (n.745-4217C>G) c.152-4217C>G n.309C>G c.7032C>G (p.Asp2344Glu) c.6837C>G (p.Asp2279Glu) c.7005C>G (p.Asp2335Glu) | |
16 | g.89279408G= | CA2241586695 | ANKRD11 | c.7134C= (p.Asp2378=) c.*6937C= (n.*6937C=) c.745-4217C= (n.745-4217C=) c.152-4217C= n.309C= c.7032C= (p.Asp2344=) c.6837C= (p.Asp2279=) c.7005C= (p.Asp2335=) | |
16 | g.89279408G>T | CA397149251 | ANKRD11 | c.7134C>A (p.Asp2378Glu) c.*6937C>A (n.*6937C>A) c.745-4217C>A (n.745-4217C>A) c.152-4217C>A n.309C>A c.7032C>A (p.Asp2344Glu) c.6837C>A (p.Asp2279Glu) c.7005C>A (p.Asp2335Glu) | |
16 | g.89279409T>A | CA397149254 | ANKRD11 | c.7133A>T (p.Asp2378Val) c.*6936A>T (n.*6936A>T) c.745-4218A>T (n.745-4218A>T) c.152-4218A>T n.308A>T c.7031A>T (p.Asp2344Val) c.6836A>T (p.Asp2279Val) c.7004A>T (p.Asp2335Val) | |
16 | g.89279409T>C | CA397149253 | ANKRD11 | c.7133A>G (p.Asp2378Gly) c.*6936A>G (n.*6936A>G) c.745-4218A>G (n.745-4218A>G) c.152-4218A>G n.308A>G c.7031A>G (p.Asp2344Gly) c.6836A>G (p.Asp2279Gly) c.7004A>G (p.Asp2335Gly) | gnomAD v4 |
16 | g.89279409T>G | CA8241291 | ANKRD11 | c.7133A>C (p.Asp2378Ala) c.*6936A>C (n.*6936A>C) c.745-4218A>C (n.745-4218A>C) c.152-4218A>C n.308A>C c.7031A>C (p.Asp2344Ala) c.6836A>C (p.Asp2279Ala) c.7004A>C (p.Asp2335Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279409T= | CA2241586696 | ANKRD11 | c.7133A= (p.Asp2378=) c.*6936A= (n.*6936A=) c.745-4218A= (n.745-4218A=) c.152-4218A= n.308A= c.7031A= (p.Asp2344=) c.6836A= (p.Asp2279=) c.7004A= (p.Asp2335=) | |
16 | g.89279409_89279410delinsTC | CA2241586697 | ANKRD11 | c.7132_7133delinsGA (p.Asp2378=) c.*6935_*6936delinsGA (n.*6935_*6936delinsGA) c.745-4219_745-4218delinsGA (n.745-4219_745-4218delinsGA) c.152-4219_152-4218delinsGA n.307_308delinsGA c.7030_7031delinsGA (p.Asp2344=) c.6835_6836delinsGA (p.Asp2279=) c.7003_7004delinsGA (p.Asp2335=) | |
16 | g.89279410del | CA980389764 | ANKRD11 | c.7132del (p.Asp2378ThrfsTer23) c.*6935del (n.*6935del) c.745-4219del (n.745-4219del) c.152-4219del n.307del c.7030del (p.Asp2344ThrfsTer23) c.6835del (p.Asp2279ThrfsTer23) c.7003del (p.Asp2335ThrfsTer23) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89279410C>A | CA397149256 | ANKRD11 | c.7132G>T (p.Asp2378Tyr) c.*6935G>T (n.*6935G>T) c.745-4219G>T (n.745-4219G>T) c.152-4219G>T n.307G>T c.7030G>T (p.Asp2344Tyr) c.6835G>T (p.Asp2279Tyr) c.7003G>T (p.Asp2335Tyr) | gnomAD v4 |
16 | g.89279410C= | CA2241586698 | ANKRD11 | c.7132G= (p.Asp2378=) c.*6935G= (n.*6935G=) c.745-4219G= (n.745-4219G=) c.152-4219G= n.307G= c.7030G= (p.Asp2344=) c.6835G= (p.Asp2279=) c.7003G= (p.Asp2335=) | |
16 | g.89279410C>G | CA397149258 | ANKRD11 | c.7132G>C (p.Asp2378His) c.*6935G>C (n.*6935G>C) c.745-4219G>C (n.745-4219G>C) c.152-4219G>C n.307G>C c.7030G>C (p.Asp2344His) c.6835G>C (p.Asp2279His) c.7003G>C (p.Asp2335His) | |
16 | g.89279410C>T | CA286509486 | ANKRD11 | c.7132G>A (p.Asp2378Asn) c.*6935G>A (n.*6935G>A) c.745-4219G>A (n.745-4219G>A) c.152-4219G>A n.307G>A c.7030G>A (p.Asp2344Asn) c.6835G>A (p.Asp2279Asn) c.7003G>A (p.Asp2335Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |