UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.89279229_89279232dup | CA1139664886 | ANKRD11 | c.7311_7314dup (p.Phe2439LeufsTer?) c.*7114_*7117dup (n.*7114_*7117dup) c.745-4040_745-4037dup (n.745-4040_745-4037dup) c.152-4040_152-4037dup n.486_489dup c.7209_7212dup (p.Phe2405LeufsTer?) c.7014_7017dup (p.Phe2340LeufsTer?) c.7182_7185dup (p.Phe2396LeufsTer?) | ClinVar dbSNP |
| 16 | g.89279230A>C | CA397148635 | ANKRD11 | c.7312T>G (p.Tyr2438Asp) c.*7115T>G (n.*7115T>G) c.745-4039T>G (n.745-4039T>G) c.152-4039T>G n.487T>G c.7210T>G (p.Tyr2404Asp) c.7015T>G (p.Tyr2339Asp) c.7183T>G (p.Tyr2395Asp) | |
| 16 | g.89279230A>G | CA397148636 | ANKRD11 | c.7312T>C (p.Tyr2438His) c.*7115T>C (n.*7115T>C) c.745-4039T>C (n.745-4039T>C) c.152-4039T>C n.487T>C c.7210T>C (p.Tyr2404His) c.7015T>C (p.Tyr2339His) c.7183T>C (p.Tyr2395His) | |
| 16 | g.89279230A>T | CA397148637 | ANKRD11 | c.7312T>A (p.Tyr2438Asn) c.*7115T>A (n.*7115T>A) c.745-4039T>A (n.745-4039T>A) c.152-4039T>A n.487T>A c.7210T>A (p.Tyr2404Asn) c.7015T>A (p.Tyr2339Asn) c.7183T>A (p.Tyr2395Asn) | |
| 16 | g.89279231G>A | CA8241259 | ANKRD11 | c.7311C>T (p.Pro2437=) c.*7114C>T (n.*7114C>T) c.745-4040C>T (n.745-4040C>T) c.152-4040C>T n.486C>T c.7209C>T (p.Pro2403=) c.7014C>T (p.Pro2338=) c.7182C>T (p.Pro2394=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89279231G>C | CA497372295 | ANKRD11 | c.7311C>G (p.Pro2437=) c.*7114C>G (n.*7114C>G) c.745-4040C>G (n.745-4040C>G) c.152-4040C>G n.486C>G c.7209C>G (p.Pro2403=) c.7014C>G (p.Pro2338=) c.7182C>G (p.Pro2394=) | |
| 16 | g.89279231G= | CA2241586592 | ANKRD11 | c.7311C= (p.Pro2437=) c.*7114C= (n.*7114C=) c.745-4040C= (n.745-4040C=) c.152-4040C= n.486C= c.7209C= (p.Pro2403=) c.7014C= (p.Pro2338=) c.7182C= (p.Pro2394=) | |
| 16 | g.89279231G>T | CA497372297 | ANKRD11 | c.7311C>A (p.Pro2437=) c.*7114C>A (n.*7114C>A) c.745-4040C>A (n.745-4040C>A) c.152-4040C>A n.486C>A c.7209C>A (p.Pro2403=) c.7014C>A (p.Pro2338=) c.7182C>A (p.Pro2394=) | |
| 16 | g.89279232G>A | CA397148639 | ANKRD11 | c.7310C>T (p.Pro2437Leu) c.*7113C>T (n.*7113C>T) c.745-4041C>T (n.745-4041C>T) c.152-4041C>T n.485C>T c.7208C>T (p.Pro2403Leu) c.7013C>T (p.Pro2338Leu) c.7181C>T (p.Pro2394Leu) | gnomAD v4 |
| 16 | g.89279232G>C | CA397148640 | ANKRD11 | c.7310C>G (p.Pro2437Arg) c.*7113C>G (n.*7113C>G) c.745-4041C>G (n.745-4041C>G) c.152-4041C>G n.485C>G c.7208C>G (p.Pro2403Arg) c.7013C>G (p.Pro2338Arg) c.7181C>G (p.Pro2394Arg) | |
| 16 | g.89279232G>T | CA397148638 | ANKRD11 | c.7310C>A (p.Pro2437His) c.*7113C>A (n.*7113C>A) c.745-4041C>A (n.745-4041C>A) c.152-4041C>A n.485C>A c.7208C>A (p.Pro2403His) c.7013C>A (p.Pro2338His) c.7181C>A (p.Pro2394His) | |
| 16 | g.89279233G>A | CA397148641 | ANKRD11 | c.7309C>T (p.Pro2437Ser) c.*7112C>T (n.*7112C>T) c.745-4042C>T (n.745-4042C>T) c.152-4042C>T n.484C>T c.7207C>T (p.Pro2403Ser) c.7012C>T (p.Pro2338Ser) c.7180C>T (p.Pro2394Ser) | ClinVar |
| 16 | g.89279233G>C | CA397148642 | ANKRD11 | c.7309C>G (p.Pro2437Ala) c.*7112C>G (n.*7112C>G) c.745-4042C>G (n.745-4042C>G) c.152-4042C>G n.484C>G c.7207C>G (p.Pro2403Ala) c.7012C>G (p.Pro2338Ala) c.7180C>G (p.Pro2394Ala) | |
| 16 | g.89279233G>T | CA397148643 | ANKRD11 | c.7309C>A (p.Pro2437Thr) c.*7112C>A (n.*7112C>A) c.745-4042C>A (n.745-4042C>A) c.152-4042C>A n.484C>A c.7207C>A (p.Pro2403Thr) c.7012C>A (p.Pro2338Thr) c.7180C>A (p.Pro2394Thr) | gnomAD v4 |
| 16 | g.89279234G>A | CA8241260 | ANKRD11 | c.7308C>T (p.Asn2436=) c.*7111C>T (n.*7111C>T) c.745-4043C>T (n.745-4043C>T) c.152-4043C>T n.483C>T c.7206C>T (p.Asn2402=) c.7011C>T (p.Asn2337=) c.7179C>T (p.Asn2393=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89279234G>C | CA397148644 | ANKRD11 | c.7308C>G (p.Asn2436Lys) c.*7111C>G (n.*7111C>G) c.745-4043C>G (n.745-4043C>G) c.152-4043C>G n.483C>G c.7206C>G (p.Asn2402Lys) c.7011C>G (p.Asn2337Lys) c.7179C>G (p.Asn2393Lys) | |
| 16 | g.89279234G= | CA2241586593 | ANKRD11 | c.7308C= (p.Asn2436=) c.*7111C= (n.*7111C=) c.745-4043C= (n.745-4043C=) c.152-4043C= n.483C= c.7206C= (p.Asn2402=) c.7011C= (p.Asn2337=) c.7179C= (p.Asn2393=) | |
| 16 | g.89279234G>T | CA397148645 | ANKRD11 | c.7308C>A (p.Asn2436Lys) c.*7111C>A (n.*7111C>A) c.745-4043C>A (n.745-4043C>A) c.152-4043C>A n.483C>A c.7206C>A (p.Asn2402Lys) c.7011C>A (p.Asn2337Lys) c.7179C>A (p.Asn2393Lys) | |
| 16 | g.89279235T>A | CA397148648 | ANKRD11 | c.7307A>T (p.Asn2436Ile) c.*7110A>T (n.*7110A>T) c.745-4044A>T (n.745-4044A>T) c.152-4044A>T n.482A>T c.7205A>T (p.Asn2402Ile) c.7010A>T (p.Asn2337Ile) c.7178A>T (p.Asn2393Ile) | |
| 16 | g.89279235T>C | CA397148646 | ANKRD11 | c.7307A>G (p.Asn2436Ser) c.*7110A>G (n.*7110A>G) c.745-4044A>G (n.745-4044A>G) c.152-4044A>G n.482A>G c.7205A>G (p.Asn2402Ser) c.7010A>G (p.Asn2337Ser) c.7178A>G (p.Asn2393Ser) | |
| 16 | g.89279235T>G | CA397148647 | ANKRD11 | c.7307A>C (p.Asn2436Thr) c.*7110A>C (n.*7110A>C) c.745-4044A>C (n.745-4044A>C) c.152-4044A>C n.482A>C c.7205A>C (p.Asn2402Thr) c.7010A>C (p.Asn2337Thr) c.7178A>C (p.Asn2393Thr) | |
| 16 | g.89279236T>A | CA397148649 | ANKRD11 | c.7306A>T (p.Asn2436Tyr) c.*7109A>T (n.*7109A>T) c.745-4045A>T (n.745-4045A>T) c.152-4045A>T n.481A>T c.7204A>T (p.Asn2402Tyr) c.7009A>T (p.Asn2337Tyr) c.7177A>T (p.Asn2393Tyr) | |
| 16 | g.89279236T>C | CA397148650 | ANKRD11 | c.7306A>G (p.Asn2436Asp) c.*7109A>G (n.*7109A>G) c.745-4045A>G (n.745-4045A>G) c.152-4045A>G n.481A>G c.7204A>G (p.Asn2402Asp) c.7009A>G (p.Asn2337Asp) c.7177A>G (p.Asn2393Asp) | |
| 16 | g.89279236T>G | CA397148651 | ANKRD11 | c.7306A>C (p.Asn2436His) c.*7109A>C (n.*7109A>C) c.745-4045A>C (n.745-4045A>C) c.152-4045A>C n.481A>C c.7204A>C (p.Asn2402His) c.7009A>C (p.Asn2337His) c.7177A>C (p.Asn2393His) | |
| 16 | g.89279237G>A | CA497372309 | ANKRD11 | c.7305C>T (p.Ala2435=) c.*7108C>T (n.*7108C>T) c.745-4046C>T (n.745-4046C>T) c.152-4046C>T n.480C>T c.7203C>T (p.Ala2401=) c.7008C>T (p.Ala2336=) c.7176C>T (p.Ala2392=) | dbSNP gnomAD v4 |
| 16 | g.89279237G>C | CA286509334 | ANKRD11 | c.7305C>G (p.Ala2435=) c.*7108C>G (n.*7108C>G) c.745-4046C>G (n.745-4046C>G) c.152-4046C>G n.480C>G c.7203C>G (p.Ala2401=) c.7008C>G (p.Ala2336=) c.7176C>G (p.Ala2392=) | dbSNP |
| 16 | g.89279237G= | CA2241586594 | ANKRD11 | c.7305C= (p.Ala2435=) c.*7108C= (n.*7108C=) c.745-4046C= (n.745-4046C=) c.152-4046C= n.480C= c.7203C= (p.Ala2401=) c.7008C= (p.Ala2336=) c.7176C= (p.Ala2392=) | |
| 16 | g.89279237G>T | CA497372310 | ANKRD11 | c.7305C>A (p.Ala2435=) c.*7108C>A (n.*7108C>A) c.745-4046C>A (n.745-4046C>A) c.152-4046C>A n.480C>A c.7203C>A (p.Ala2401=) c.7008C>A (p.Ala2336=) c.7176C>A (p.Ala2392=) | |
| 16 | g.89279238G>A | CA397148652 | ANKRD11 | c.7304C>T (p.Ala2435Val) c.*7107C>T (n.*7107C>T) c.745-4047C>T (n.745-4047C>T) c.152-4047C>T n.479C>T c.7202C>T (p.Ala2401Val) c.7007C>T (p.Ala2336Val) c.7175C>T (p.Ala2392Val) | dbSNP |
| 16 | g.89279238G>C | CA397148653 | ANKRD11 | c.7304C>G (p.Ala2435Gly) c.*7107C>G (n.*7107C>G) c.745-4047C>G (n.745-4047C>G) c.152-4047C>G n.479C>G c.7202C>G (p.Ala2401Gly) c.7007C>G (p.Ala2336Gly) c.7175C>G (p.Ala2392Gly) | |
| 16 | g.89279238G= | CA2241586596 | ANKRD11 | c.7304C= (p.Ala2435=) c.*7107C= (n.*7107C=) c.745-4047C= (n.745-4047C=) c.152-4047C= n.479C= c.7202C= (p.Ala2401=) c.7007C= (p.Ala2336=) c.7175C= (p.Ala2392=) | |
| 16 | g.89279238G>T | CA397148654 | ANKRD11 | c.7304C>A (p.Ala2435Asp) c.*7107C>A (n.*7107C>A) c.745-4047C>A (n.745-4047C>A) c.152-4047C>A n.479C>A c.7202C>A (p.Ala2401Asp) c.7007C>A (p.Ala2336Asp) c.7175C>A (p.Ala2392Asp) | |
| 16 | g.89279238_89279239delinsGC | CA2241586595 | ANKRD11 | c.7303_7304delinsGC (p.Ala2435=) c.*7106_*7107delinsGC (n.*7106_*7107delinsGC) c.745-4048_745-4047delinsGC (n.745-4048_745-4047delinsGC) c.152-4048_152-4047delinsGC n.478_479delinsGC c.7201_7202delinsGC (p.Ala2401=) c.7006_7007delinsGC (p.Ala2336=) c.7174_7175delinsGC (p.Ala2392=) | |
| 16 | g.89279239C>A | CA397148655 | ANKRD11 | c.7303G>T (p.Ala2435Ser) c.*7106G>T (n.*7106G>T) c.745-4048G>T (n.745-4048G>T) c.152-4048G>T n.478G>T c.7201G>T (p.Ala2401Ser) c.7006G>T (p.Ala2336Ser) c.7174G>T (p.Ala2392Ser) | |
| 16 | g.89279239C>G | CA397148657 | ANKRD11 | c.7303G>C (p.Ala2435Pro) c.*7106G>C (n.*7106G>C) c.745-4048G>C (n.745-4048G>C) c.152-4048G>C n.478G>C c.7201G>C (p.Ala2401Pro) c.7006G>C (p.Ala2336Pro) c.7174G>C (p.Ala2392Pro) | |
| 16 | g.89279239C>T | CA397148656 | ANKRD11 | c.7303G>A (p.Ala2435Thr) c.*7106G>A (n.*7106G>A) c.745-4048G>A (n.745-4048G>A) c.152-4048G>A n.478G>A c.7201G>A (p.Ala2401Thr) c.7006G>A (p.Ala2336Thr) c.7174G>A (p.Ala2392Thr) | |
| 16 | g.89279241del | CA658798654 | ANKRD11 | c.7303del (p.Ala2435ProfsTer?) c.*7106del (n.*7106del) c.745-4048del (n.745-4048del) c.152-4048del n.478del c.7201del (p.Ala2401ProfsTer?) c.7006del (p.Ala2336ProfsTer?) c.7174del (p.Ala2392ProfsTer?) | ClinVar dbSNP |
| 16 | g.89279240C>A | CA397148658 | ANKRD11 | c.7302G>T (p.Arg2434Ser) c.*7105G>T (n.*7105G>T) c.745-4049G>T (n.745-4049G>T) c.152-4049G>T n.477G>T c.7200G>T (p.Arg2400Ser) c.7005G>T (p.Arg2335Ser) c.7173G>T (p.Arg2391Ser) | |
| 16 | g.89279240C>G | CA397148659 | ANKRD11 | c.7302G>C (p.Arg2434Ser) c.*7105G>C (n.*7105G>C) c.745-4049G>C (n.745-4049G>C) c.152-4049G>C n.477G>C c.7200G>C (p.Arg2400Ser) c.7005G>C (p.Arg2335Ser) c.7173G>C (p.Arg2391Ser) | |
| 16 | g.89279240C>T | CA497372319 | ANKRD11 | c.7302G>A (p.Arg2434=) c.*7105G>A (n.*7105G>A) c.745-4049G>A (n.745-4049G>A) c.152-4049G>A n.477G>A c.7200G>A (p.Arg2400=) c.7005G>A (p.Arg2335=) c.7173G>A (p.Arg2391=) | |
| 16 | g.89279241C>A | CA397148660 | ANKRD11 | c.7301G>T (p.Arg2434Met) c.*7104G>T (n.*7104G>T) c.745-4050G>T (n.745-4050G>T) c.152-4050G>T n.476G>T c.7199G>T (p.Arg2400Met) c.7004G>T (p.Arg2335Met) c.7172G>T (p.Arg2391Met) | |
| 16 | g.89279241C>G | CA397148661 | ANKRD11 | c.7301G>C (p.Arg2434Thr) c.*7104G>C (n.*7104G>C) c.745-4050G>C (n.745-4050G>C) c.152-4050G>C n.476G>C c.7199G>C (p.Arg2400Thr) c.7004G>C (p.Arg2335Thr) c.7172G>C (p.Arg2391Thr) | |
| 16 | g.89279241C>T | CA397148662 | ANKRD11 | c.7301G>A (p.Arg2434Lys) c.*7104G>A (n.*7104G>A) c.745-4050G>A (n.745-4050G>A) c.152-4050G>A n.476G>A c.7199G>A (p.Arg2400Lys) c.7004G>A (p.Arg2335Lys) c.7172G>A (p.Arg2391Lys) | |
| 16 | g.89279242T>A | CA397148663 | ANKRD11 | c.7300A>T (p.Arg2434Trp) c.*7103A>T (n.*7103A>T) c.745-4051A>T (n.745-4051A>T) c.152-4051A>T n.475A>T c.7198A>T (p.Arg2400Trp) c.7003A>T (p.Arg2335Trp) c.7171A>T (p.Arg2391Trp) | |
| 16 | g.89279242T>C | CA397148664 | ANKRD11 | c.7300A>G (p.Arg2434Gly) c.*7103A>G (n.*7103A>G) c.745-4051A>G (n.745-4051A>G) c.152-4051A>G n.475A>G c.7198A>G (p.Arg2400Gly) c.7003A>G (p.Arg2335Gly) c.7171A>G (p.Arg2391Gly) | |
| 16 | g.89279242T>G | CA497372324 | ANKRD11 | c.7300A>C (p.Arg2434=) c.*7103A>C (n.*7103A>C) c.745-4051A>C (n.745-4051A>C) c.152-4051A>C n.475A>C c.7198A>C (p.Arg2400=) c.7003A>C (p.Arg2335=) c.7171A>C (p.Arg2391=) | |
| 16 | g.89279243G>A | CA497372325 | ANKRD11 | c.7299C>T (p.Asp2433=) c.*7102C>T (n.*7102C>T) c.745-4052C>T (n.745-4052C>T) c.152-4052C>T n.474C>T c.7197C>T (p.Asp2399=) c.7002C>T (p.Asp2334=) c.7170C>T (p.Asp2390=) | dbSNP gnomAD v4 |
| 16 | g.89279243G>C | CA397148665 | ANKRD11 | c.7299C>G (p.Asp2433Glu) c.*7102C>G (n.*7102C>G) c.745-4052C>G (n.745-4052C>G) c.152-4052C>G n.474C>G c.7197C>G (p.Asp2399Glu) c.7002C>G (p.Asp2334Glu) c.7170C>G (p.Asp2390Glu) | gnomAD v4 |
| 16 | g.89279243G= | CA2241586597 | ANKRD11 | c.7299C= (p.Asp2433=) c.*7102C= (n.*7102C=) c.745-4052C= (n.745-4052C=) c.152-4052C= n.474C= c.7197C= (p.Asp2399=) c.7002C= (p.Asp2334=) c.7170C= (p.Asp2390=) | |
| 16 | g.89279243G>T | CA397148666 | ANKRD11 | c.7299C>A (p.Asp2433Glu) c.*7102C>A (n.*7102C>A) c.745-4052C>A (n.745-4052C>A) c.152-4052C>A n.474C>A c.7197C>A (p.Asp2399Glu) c.7002C>A (p.Asp2334Glu) c.7170C>A (p.Asp2390Glu) | |
| 16 | g.89279244T>A | CA397148667 | ANKRD11 | c.7298A>T (p.Asp2433Val) c.*7101A>T (n.*7101A>T) c.745-4053A>T (n.745-4053A>T) c.152-4053A>T n.473A>T c.7196A>T (p.Asp2399Val) c.7001A>T (p.Asp2334Val) c.7169A>T (p.Asp2390Val) | |
| 16 | g.89279244T>C | CA397148668 | ANKRD11 | c.7298A>G (p.Asp2433Gly) c.*7101A>G (n.*7101A>G) c.745-4053A>G (n.745-4053A>G) c.152-4053A>G n.473A>G c.7196A>G (p.Asp2399Gly) c.7001A>G (p.Asp2334Gly) c.7169A>G (p.Asp2390Gly) | gnomAD v4 |
| 16 | g.89279244T>G | CA397148669 | ANKRD11 | c.7298A>C (p.Asp2433Ala) c.*7101A>C (n.*7101A>C) c.745-4053A>C (n.745-4053A>C) c.152-4053A>C n.473A>C c.7196A>C (p.Asp2399Ala) c.7001A>C (p.Asp2334Ala) c.7169A>C (p.Asp2390Ala) | |
| 16 | g.89279245C>A | CA397148670 | ANKRD11 | c.7297G>T (p.Asp2433Tyr) c.*7100G>T (n.*7100G>T) c.745-4054G>T (n.745-4054G>T) c.152-4054G>T n.472G>T c.7195G>T (p.Asp2399Tyr) c.7000G>T (p.Asp2334Tyr) c.7168G>T (p.Asp2390Tyr) | |
| 16 | g.89279245C>G | CA397148672 | ANKRD11 | c.7297G>C (p.Asp2433His) c.*7100G>C (n.*7100G>C) c.745-4054G>C (n.745-4054G>C) c.152-4054G>C n.472G>C c.7195G>C (p.Asp2399His) c.7000G>C (p.Asp2334His) c.7168G>C (p.Asp2390His) | |
| 16 | g.89279245C>T | CA397148671 | ANKRD11 | c.7297G>A (p.Asp2433Asn) c.*7100G>A (n.*7100G>A) c.745-4054G>A (n.745-4054G>A) c.152-4054G>A n.472G>A c.7195G>A (p.Asp2399Asn) c.7000G>A (p.Asp2334Asn) c.7168G>A (p.Asp2390Asn) | gnomAD v4 |
| 16 | g.89279246G>A | CA8241261 | ANKRD11 | c.7296C>T (p.Ser2432=) c.*7099C>T (n.*7099C>T) c.745-4055C>T (n.745-4055C>T) c.152-4055C>T n.471C>T c.7194C>T (p.Ser2398=) c.6999C>T (p.Ser2333=) c.7167C>T (p.Ser2389=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89279246G>C | CA397148673 | ANKRD11 | c.7296C>G (p.Ser2432Arg) c.*7099C>G (n.*7099C>G) c.745-4055C>G (n.745-4055C>G) c.152-4055C>G n.471C>G c.7194C>G (p.Ser2398Arg) c.6999C>G (p.Ser2333Arg) c.7167C>G (p.Ser2389Arg) | |
| 16 | g.89279246G= | CA2241586598 | ANKRD11 | c.7296C= (p.Ser2432=) c.*7099C= (n.*7099C=) c.745-4055C= (n.745-4055C=) c.152-4055C= n.471C= c.7194C= (p.Ser2398=) c.6999C= (p.Ser2333=) c.7167C= (p.Ser2389=) | |
| 16 | g.89279246G>T | CA397148674 | ANKRD11 | c.7296C>A (p.Ser2432Arg) c.*7099C>A (n.*7099C>A) c.745-4055C>A (n.745-4055C>A) c.152-4055C>A n.471C>A c.7194C>A (p.Ser2398Arg) c.6999C>A (p.Ser2333Arg) c.7167C>A (p.Ser2389Arg) | |
| 16 | g.89279247C>A | CA397148675 | ANKRD11 | c.7295G>T (p.Ser2432Ile) c.*7098G>T (n.*7098G>T) c.745-4056G>T (n.745-4056G>T) c.152-4056G>T n.470G>T c.7193G>T (p.Ser2398Ile) c.6998G>T (p.Ser2333Ile) c.7166G>T (p.Ser2389Ile) | |
| 16 | g.89279247C>G | CA397148676 | ANKRD11 | c.7295G>C (p.Ser2432Thr) c.*7098G>C (n.*7098G>C) c.745-4056G>C (n.745-4056G>C) c.152-4056G>C n.470G>C c.7193G>C (p.Ser2398Thr) c.6998G>C (p.Ser2333Thr) c.7166G>C (p.Ser2389Thr) | |
| 16 | g.89279247C>T | CA397148677 | ANKRD11 | c.7295G>A (p.Ser2432Asn) c.*7098G>A (n.*7098G>A) c.745-4056G>A (n.745-4056G>A) c.152-4056G>A n.470G>A c.7193G>A (p.Ser2398Asn) c.6998G>A (p.Ser2333Asn) c.7166G>A (p.Ser2389Asn) | |
| 16 | g.89279248T>A | CA397148680 | ANKRD11 | c.7294A>T (p.Ser2432Cys) c.*7097A>T (n.*7097A>T) c.745-4057A>T (n.745-4057A>T) c.152-4057A>T n.469A>T c.7192A>T (p.Ser2398Cys) c.6997A>T (p.Ser2333Cys) c.7165A>T (p.Ser2389Cys) | |
| 16 | g.89279248T>C | CA397148678 | ANKRD11 | c.7294A>G (p.Ser2432Gly) c.*7097A>G (n.*7097A>G) c.745-4057A>G (n.745-4057A>G) c.152-4057A>G n.469A>G c.7192A>G (p.Ser2398Gly) c.6997A>G (p.Ser2333Gly) c.7165A>G (p.Ser2389Gly) | |
| 16 | g.89279248T>G | CA397148679 | ANKRD11 | c.7294A>C (p.Ser2432Arg) c.*7097A>C (n.*7097A>C) c.745-4057A>C (n.745-4057A>C) c.152-4057A>C n.469A>C c.7192A>C (p.Ser2398Arg) c.6997A>C (p.Ser2333Arg) c.7165A>C (p.Ser2389Arg) | |
| 16 | g.89279249G>A | CA497372337 | ANKRD11 | c.7293C>T (p.His2431=) c.*7096C>T (n.*7096C>T) c.745-4058C>T (n.745-4058C>T) c.152-4058C>T n.468C>T c.7191C>T (p.His2397=) c.6996C>T (p.His2332=) c.7164C>T (p.His2388=) | |
| 16 | g.89279249G>C | CA397148681 | ANKRD11 | c.7293C>G (p.His2431Gln) c.*7096C>G (n.*7096C>G) c.745-4058C>G (n.745-4058C>G) c.152-4058C>G n.468C>G c.7191C>G (p.His2397Gln) c.6996C>G (p.His2332Gln) c.7164C>G (p.His2388Gln) | |
| 16 | g.89279249G= | CA2241586599 | ANKRD11 | c.7293C= (p.His2431=) c.*7096C= (n.*7096C=) c.745-4058C= (n.745-4058C=) c.152-4058C= n.468C= c.7191C= (p.His2397=) c.6996C= (p.His2332=) c.7164C= (p.His2388=) | |
| 16 | g.89279249G>T | CA397148682 | ANKRD11 | c.7293C>A (p.His2431Gln) c.*7096C>A (n.*7096C>A) c.745-4058C>A (n.745-4058C>A) c.152-4058C>A n.468C>A c.7191C>A (p.His2397Gln) c.6996C>A (p.His2332Gln) c.7164C>A (p.His2388Gln) | dbSNP |
| 16 | g.89279250T>A | CA397148683 | ANKRD11 | c.7292A>T (p.His2431Leu) c.*7095A>T (n.*7095A>T) c.745-4059A>T (n.745-4059A>T) c.152-4059A>T n.467A>T c.7190A>T (p.His2397Leu) c.6995A>T (p.His2332Leu) c.7163A>T (p.His2388Leu) | |
| 16 | g.89279250T>C | CA397148684 | ANKRD11 | c.7292A>G (p.His2431Arg) c.*7095A>G (n.*7095A>G) c.745-4059A>G (n.745-4059A>G) c.152-4059A>G n.467A>G c.7190A>G (p.His2397Arg) c.6995A>G (p.His2332Arg) c.7163A>G (p.His2388Arg) | |
| 16 | g.89279250T>G | CA397148685 | ANKRD11 | c.7292A>C (p.His2431Pro) c.*7095A>C (n.*7095A>C) c.745-4059A>C (n.745-4059A>C) c.152-4059A>C n.467A>C c.7190A>C (p.His2397Pro) c.6995A>C (p.His2332Pro) c.7163A>C (p.His2388Pro) | |
| 16 | g.89279251G>A | CA397148686 | ANKRD11 | c.7291C>T (p.His2431Tyr) c.*7094C>T (n.*7094C>T) c.745-4060C>T (n.745-4060C>T) c.152-4060C>T n.466C>T c.7189C>T (p.His2397Tyr) c.6994C>T (p.His2332Tyr) c.7162C>T (p.His2388Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89279251G>C | CA397148688 | ANKRD11 | c.7291C>G (p.His2431Asp) c.*7094C>G (n.*7094C>G) c.745-4060C>G (n.745-4060C>G) c.152-4060C>G n.466C>G c.7189C>G (p.His2397Asp) c.6994C>G (p.His2332Asp) c.7162C>G (p.His2388Asp) | |
| 16 | g.89279251G= | CA2241586600 | ANKRD11 | c.7291C= (p.His2431=) c.*7094C= (n.*7094C=) c.745-4060C= (n.745-4060C=) c.152-4060C= n.466C= c.7189C= (p.His2397=) c.6994C= (p.His2332=) c.7162C= (p.His2388=) | |
| 16 | g.89279251G>T | CA397148687 | ANKRD11 | c.7291C>A (p.His2431Asn) c.*7094C>A (n.*7094C>A) c.745-4060C>A (n.745-4060C>A) c.152-4060C>A n.466C>A c.7189C>A (p.His2397Asn) c.6994C>A (p.His2332Asn) c.7162C>A (p.His2388Asn) | |
| 16 | g.89279252G>A | CA8241262 | ANKRD11 | c.7290C>T (p.Tyr2430=) c.*7093C>T (n.*7093C>T) c.745-4061C>T (n.745-4061C>T) c.152-4061C>T n.465C>T c.7188C>T (p.Tyr2396=) c.6993C>T (p.Tyr2331=) c.7161C>T (p.Tyr2387=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89279252G>C | CA397148689 | ANKRD11 | c.7290C>G (p.Tyr2430Ter) c.*7093C>G (n.*7093C>G) c.745-4061C>G (n.745-4061C>G) c.152-4061C>G n.465C>G c.7188C>G (p.Tyr2396Ter) c.6993C>G (p.Tyr2331Ter) c.7161C>G (p.Tyr2387Ter) | ClinVar |
| 16 | g.89279252G= | CA2241586601 | ANKRD11 | c.7290C= (p.Tyr2430=) c.*7093C= (n.*7093C=) c.745-4061C= (n.745-4061C=) c.152-4061C= n.465C= c.7188C= (p.Tyr2396=) c.6993C= (p.Tyr2331=) c.7161C= (p.Tyr2387=) | |
| 16 | g.89279252G>T | CA397148690 | ANKRD11 | c.7290C>A (p.Tyr2430Ter) c.*7093C>A (n.*7093C>A) c.745-4061C>A (n.745-4061C>A) c.152-4061C>A n.465C>A c.7188C>A (p.Tyr2396Ter) c.6993C>A (p.Tyr2331Ter) c.7161C>A (p.Tyr2387Ter) | |
| 16 | g.89279253T>A | CA397148691 | ANKRD11 | c.7289A>T (p.Tyr2430Phe) c.*7092A>T (n.*7092A>T) c.745-4062A>T (n.745-4062A>T) c.152-4062A>T n.464A>T c.7187A>T (p.Tyr2396Phe) c.6992A>T (p.Tyr2331Phe) c.7160A>T (p.Tyr2387Phe) | |
| 16 | g.89279253T>C | CA397148692 | ANKRD11 | c.7289A>G (p.Tyr2430Cys) c.*7092A>G (n.*7092A>G) c.745-4062A>G (n.745-4062A>G) c.152-4062A>G n.464A>G c.7187A>G (p.Tyr2396Cys) c.6992A>G (p.Tyr2331Cys) c.7160A>G (p.Tyr2387Cys) | |
| 16 | g.89279253T>G | CA397148693 | ANKRD11 | c.7289A>C (p.Tyr2430Ser) c.*7092A>C (n.*7092A>C) c.745-4062A>C (n.745-4062A>C) c.152-4062A>C n.464A>C c.7187A>C (p.Tyr2396Ser) c.6992A>C (p.Tyr2331Ser) c.7160A>C (p.Tyr2387Ser) | |
| 16 | g.89279254A>C | CA397148694 | ANKRD11 | c.7288T>G (p.Tyr2430Asp) c.*7091T>G (n.*7091T>G) c.745-4063T>G (n.745-4063T>G) c.152-4063T>G n.463T>G c.7186T>G (p.Tyr2396Asp) c.6991T>G (p.Tyr2331Asp) c.7159T>G (p.Tyr2387Asp) | |
| 16 | g.89279254A>G | CA397148695 | ANKRD11 | c.7288T>C (p.Tyr2430His) c.*7091T>C (n.*7091T>C) c.745-4063T>C (n.745-4063T>C) c.152-4063T>C n.463T>C c.7186T>C (p.Tyr2396His) c.6991T>C (p.Tyr2331His) c.7159T>C (p.Tyr2387His) | |
| 16 | g.89279254A>T | CA397148696 | ANKRD11 | c.7288T>A (p.Tyr2430Asn) c.*7091T>A (n.*7091T>A) c.745-4063T>A (n.745-4063T>A) c.152-4063T>A n.463T>A c.7186T>A (p.Tyr2396Asn) c.6991T>A (p.Tyr2331Asn) c.7159T>A (p.Tyr2387Asn) | |
| 16 | g.89279255G>A | CA497372345 | ANKRD11 | c.7287C>T (p.Pro2429=) c.*7090C>T (n.*7090C>T) c.745-4064C>T (n.745-4064C>T) c.152-4064C>T n.462C>T c.7185C>T (p.Pro2395=) c.6990C>T (p.Pro2330=) c.7158C>T (p.Pro2386=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89279255G>C | CA497372346 | ANKRD11 | c.7287C>G (p.Pro2429=) c.*7090C>G (n.*7090C>G) c.745-4064C>G (n.745-4064C>G) c.152-4064C>G n.462C>G c.7185C>G (p.Pro2395=) c.6990C>G (p.Pro2330=) c.7158C>G (p.Pro2386=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89279255G= | CA2241586602 | ANKRD11 | c.7287C= (p.Pro2429=) c.*7090C= (n.*7090C=) c.745-4064C= (n.745-4064C=) c.152-4064C= n.462C= c.7185C= (p.Pro2395=) c.6990C= (p.Pro2330=) c.7158C= (p.Pro2386=) | |
| 16 | g.89279255G>T | CA8241263 | ANKRD11 | c.7287C>A (p.Pro2429=) c.*7090C>A (n.*7090C>A) c.745-4064C>A (n.745-4064C>A) c.152-4064C>A n.462C>A c.7185C>A (p.Pro2395=) c.6990C>A (p.Pro2330=) c.7158C>A (p.Pro2386=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89279256G>A | CA397148699 | ANKRD11 | c.7286C>T (p.Pro2429Leu) c.*7089C>T (n.*7089C>T) c.745-4065C>T (n.745-4065C>T) c.152-4065C>T n.461C>T c.7184C>T (p.Pro2395Leu) c.6989C>T (p.Pro2330Leu) c.7157C>T (p.Pro2386Leu) | |
| 16 | g.89279256G>C | CA397148698 | ANKRD11 | c.7286C>G (p.Pro2429Arg) c.*7089C>G (n.*7089C>G) c.745-4065C>G (n.745-4065C>G) c.152-4065C>G n.461C>G c.7184C>G (p.Pro2395Arg) c.6989C>G (p.Pro2330Arg) c.7157C>G (p.Pro2386Arg) | |
| 16 | g.89279256G>T | CA397148697 | ANKRD11 | c.7286C>A (p.Pro2429His) c.*7089C>A (n.*7089C>A) c.745-4065C>A (n.745-4065C>A) c.152-4065C>A n.461C>A c.7184C>A (p.Pro2395His) c.6989C>A (p.Pro2330His) c.7157C>A (p.Pro2386His) | |
| 16 | g.89279257G>A | CA397148700 | ANKRD11 | c.7285C>T (p.Pro2429Ser) c.*7088C>T (n.*7088C>T) c.745-4066C>T (n.745-4066C>T) c.152-4066C>T n.460C>T c.7183C>T (p.Pro2395Ser) c.6988C>T (p.Pro2330Ser) c.7156C>T (p.Pro2386Ser) | dbSNP |
| 16 | g.89279257G>C | CA397148702 | ANKRD11 | c.7285C>G (p.Pro2429Ala) c.*7088C>G (n.*7088C>G) c.745-4066C>G (n.745-4066C>G) c.152-4066C>G n.460C>G c.7183C>G (p.Pro2395Ala) c.6988C>G (p.Pro2330Ala) c.7156C>G (p.Pro2386Ala) | |
| 16 | g.89279257G= | CA2241586603 | ANKRD11 | c.7285C= (p.Pro2429=) c.*7088C= (n.*7088C=) c.745-4066C= (n.745-4066C=) c.152-4066C= n.460C= c.7183C= (p.Pro2395=) c.6988C= (p.Pro2330=) c.7156C= (p.Pro2386=) | |
| 16 | g.89279257G>T | CA397148701 | ANKRD11 | c.7285C>A (p.Pro2429Thr) c.*7088C>A (n.*7088C>A) c.745-4066C>A (n.745-4066C>A) c.152-4066C>A n.460C>A c.7183C>A (p.Pro2395Thr) c.6988C>A (p.Pro2330Thr) c.7156C>A (p.Pro2386Thr) | |
| 16 | g.89279258C>A | CA397148703 | ANKRD11 | c.7284G>T (p.Glu2428Asp) c.*7087G>T (n.*7087G>T) c.745-4067G>T (n.745-4067G>T) c.152-4067G>T n.459G>T c.7182G>T (p.Glu2394Asp) c.6987G>T (p.Glu2329Asp) c.7155G>T (p.Glu2385Asp) | |
| 16 | g.89279258C>G | CA397148704 | ANKRD11 | c.7284G>C (p.Glu2428Asp) c.*7087G>C (n.*7087G>C) c.745-4067G>C (n.745-4067G>C) c.152-4067G>C n.459G>C c.7182G>C (p.Glu2394Asp) c.6987G>C (p.Glu2329Asp) c.7155G>C (p.Glu2385Asp) | |
| 16 | g.89279258C>T | CA497372356 | ANKRD11 | c.7284G>A (p.Glu2428=) c.*7087G>A (n.*7087G>A) c.745-4067G>A (n.745-4067G>A) c.152-4067G>A n.459G>A c.7182G>A (p.Glu2394=) c.6987G>A (p.Glu2329=) c.7155G>A (p.Glu2385=) | |
| 16 | g.89279259T>A | CA397148705 | ANKRD11 | c.7283A>T (p.Glu2428Val) c.*7086A>T (n.*7086A>T) c.745-4068A>T (n.745-4068A>T) c.152-4068A>T n.458A>T c.7181A>T (p.Glu2394Val) c.6986A>T (p.Glu2329Val) c.7154A>T (p.Glu2385Val) | |
| 16 | g.89279259T>C | CA397148706 | ANKRD11 | c.7283A>G (p.Glu2428Gly) c.*7086A>G (n.*7086A>G) c.745-4068A>G (n.745-4068A>G) c.152-4068A>G n.458A>G c.7181A>G (p.Glu2394Gly) c.6986A>G (p.Glu2329Gly) c.7154A>G (p.Glu2385Gly) | |
| 16 | g.89279259T>G | CA397148707 | ANKRD11 | c.7283A>C (p.Glu2428Ala) c.*7086A>C (n.*7086A>C) c.745-4068A>C (n.745-4068A>C) c.152-4068A>C n.458A>C c.7181A>C (p.Glu2394Ala) c.6986A>C (p.Glu2329Ala) c.7154A>C (p.Glu2385Ala) | |
| 16 | g.89279260C>A | CA397148708 | ANKRD11 | c.7282G>T (p.Glu2428Ter) c.*7085G>T (n.*7085G>T) c.745-4069G>T (n.745-4069G>T) c.152-4069G>T n.457G>T c.7180G>T (p.Glu2394Ter) c.6985G>T (p.Glu2329Ter) c.7153G>T (p.Glu2385Ter) | |
| 16 | g.89279260C>G | CA397148709 | ANKRD11 | c.7282G>C (p.Glu2428Gln) c.*7085G>C (n.*7085G>C) c.745-4069G>C (n.745-4069G>C) c.152-4069G>C n.457G>C c.7180G>C (p.Glu2394Gln) c.6985G>C (p.Glu2329Gln) c.7153G>C (p.Glu2385Gln) | |
| 16 | g.89279260C>T | CA397148710 | ANKRD11 | c.7282G>A (p.Glu2428Lys) c.*7085G>A (n.*7085G>A) c.745-4069G>A (n.745-4069G>A) c.152-4069G>A n.457G>A c.7180G>A (p.Glu2394Lys) c.6985G>A (p.Glu2329Lys) c.7153G>A (p.Glu2385Lys) | gnomAD v4 |
| 16 | g.89279267_89279293del | CA2634940954 | ANKRD11 | c.7256_7282del (p.Val2419_Ile2427del) c.*7059_*7085del (n.*7059_*7085del) c.745-4095_745-4069del (n.745-4095_745-4069del) c.152-4095_152-4069del n.431_457del c.7154_7180del (p.Val2385_Ile2393del) c.6959_6985del (p.Val2320_Ile2328del) c.7127_7153del (p.Val2376_Ile2384del) | gnomAD v4 |
| 16 | g.89279261G>A | CA286509372 | ANKRD11 | c.7281C>T (p.Ile2427=) c.*7084C>T (n.*7084C>T) c.745-4070C>T (n.745-4070C>T) c.152-4070C>T n.456C>T c.7179C>T (p.Ile2393=) c.6984C>T (p.Ile2328=) c.7152C>T (p.Ile2384=) | dbSNP gnomAD v4 |
| 16 | g.89279261G>C | CA397148711 | ANKRD11 | c.7281C>G (p.Ile2427Met) c.*7084C>G (n.*7084C>G) c.745-4070C>G (n.745-4070C>G) c.152-4070C>G n.456C>G c.7179C>G (p.Ile2393Met) c.6984C>G (p.Ile2328Met) c.7152C>G (p.Ile2384Met) | |
| 16 | g.89279261G= | CA2241586604 | ANKRD11 | c.7281C= (p.Ile2427=) c.*7084C= (n.*7084C=) c.745-4070C= (n.745-4070C=) c.152-4070C= n.456C= c.7179C= (p.Ile2393=) c.6984C= (p.Ile2328=) c.7152C= (p.Ile2384=) | |
| 16 | g.89279261G>T | CA497372361 | ANKRD11 | c.7281C>A (p.Ile2427=) c.*7084C>A (n.*7084C>A) c.745-4070C>A (n.745-4070C>A) c.152-4070C>A n.456C>A c.7179C>A (p.Ile2393=) c.6984C>A (p.Ile2328=) c.7152C>A (p.Ile2384=) | gnomAD v4 |
| 16 | g.89279262A>C | CA397148712 | ANKRD11 | c.7280T>G (p.Ile2427Ser) c.*7083T>G (n.*7083T>G) c.745-4071T>G (n.745-4071T>G) c.152-4071T>G n.455T>G c.7178T>G (p.Ile2393Ser) c.6983T>G (p.Ile2328Ser) c.7151T>G (p.Ile2384Ser) | |
| 16 | g.89279262A>G | CA397148713 | ANKRD11 | c.7280T>C (p.Ile2427Thr) c.*7083T>C (n.*7083T>C) c.745-4071T>C (n.745-4071T>C) c.152-4071T>C n.455T>C c.7178T>C (p.Ile2393Thr) c.6983T>C (p.Ile2328Thr) c.7151T>C (p.Ile2384Thr) | |
| 16 | g.89279262A>T | CA397148714 | ANKRD11 | c.7280T>A (p.Ile2427Asn) c.*7083T>A (n.*7083T>A) c.745-4071T>A (n.745-4071T>A) c.152-4071T>A n.455T>A c.7178T>A (p.Ile2393Asn) c.6983T>A (p.Ile2328Asn) c.7151T>A (p.Ile2384Asn) | |
| 16 | g.89279263T>A | CA397148715 | ANKRD11 | c.7279A>T (p.Ile2427Phe) c.*7082A>T (n.*7082A>T) c.745-4072A>T (n.745-4072A>T) c.152-4072A>T n.454A>T c.7177A>T (p.Ile2393Phe) c.6982A>T (p.Ile2328Phe) c.7150A>T (p.Ile2384Phe) | |
| 16 | g.89279263T>C | CA397148716 | ANKRD11 | c.7279A>G (p.Ile2427Val) c.*7082A>G (n.*7082A>G) c.745-4072A>G (n.745-4072A>G) c.152-4072A>G n.454A>G c.7177A>G (p.Ile2393Val) c.6982A>G (p.Ile2328Val) c.7150A>G (p.Ile2384Val) | gnomAD v4 |
| 16 | g.89279263T>G | CA397148717 | ANKRD11 | c.7279A>C (p.Ile2427Leu) c.*7082A>C (n.*7082A>C) c.745-4072A>C (n.745-4072A>C) c.152-4072A>C n.454A>C c.7177A>C (p.Ile2393Leu) c.6982A>C (p.Ile2328Leu) c.7150A>C (p.Ile2384Leu) | |
| 16 | g.89279264G>A | CA497372364 | ANKRD11 | c.7278C>T (p.Ala2426=) c.*7081C>T (n.*7081C>T) c.745-4073C>T (n.745-4073C>T) c.152-4073C>T n.453C>T c.7176C>T (p.Ala2392=) c.6981C>T (p.Ala2327=) c.7149C>T (p.Ala2383=) | |
| 16 | g.89279264G>C | CA497372365 | ANKRD11 | c.7278C>G (p.Ala2426=) c.*7081C>G (n.*7081C>G) c.745-4073C>G (n.745-4073C>G) c.152-4073C>G n.453C>G c.7176C>G (p.Ala2392=) c.6981C>G (p.Ala2327=) c.7149C>G (p.Ala2383=) | |
| 16 | g.89279264G>T | CA497372366 | ANKRD11 | c.7278C>A (p.Ala2426=) c.*7081C>A (n.*7081C>A) c.745-4073C>A (n.745-4073C>A) c.152-4073C>A n.453C>A c.7176C>A (p.Ala2392=) c.6981C>A (p.Ala2327=) c.7149C>A (p.Ala2383=) | |
| 16 | g.89279265G>A | CA397148718 | ANKRD11 | c.7277C>T (p.Ala2426Val) c.*7080C>T (n.*7080C>T) c.745-4074C>T (n.745-4074C>T) c.152-4074C>T n.452C>T c.7175C>T (p.Ala2392Val) c.6980C>T (p.Ala2327Val) c.7148C>T (p.Ala2383Val) | ClinVar gnomAD v4 |
| 16 | g.89279265G>C | CA397148720 | ANKRD11 | c.7277C>G (p.Ala2426Gly) c.*7080C>G (n.*7080C>G) c.745-4074C>G (n.745-4074C>G) c.152-4074C>G n.452C>G c.7175C>G (p.Ala2392Gly) c.6980C>G (p.Ala2327Gly) c.7148C>G (p.Ala2383Gly) | |
| 16 | g.89279265G>T | CA397148719 | ANKRD11 | c.7277C>A (p.Ala2426Asp) c.*7080C>A (n.*7080C>A) c.745-4074C>A (n.745-4074C>A) c.152-4074C>A n.452C>A c.7175C>A (p.Ala2392Asp) c.6980C>A (p.Ala2327Asp) c.7148C>A (p.Ala2383Asp) | ClinVar |
| 16 | g.89279266C>A | CA397148721 | ANKRD11 | c.7276G>T (p.Ala2426Ser) c.*7079G>T (n.*7079G>T) c.745-4075G>T (n.745-4075G>T) c.152-4075G>T n.451G>T c.7174G>T (p.Ala2392Ser) c.6979G>T (p.Ala2327Ser) c.7147G>T (p.Ala2383Ser) | |
| 16 | g.89279266C= | CA2241586605 | ANKRD11 | c.7276G= (p.Ala2426=) c.*7079G= (n.*7079G=) c.745-4075G= (n.745-4075G=) c.152-4075G= n.451G= c.7174G= (p.Ala2392=) c.6979G= (p.Ala2327=) c.7147G= (p.Ala2383=) | |
| 16 | g.89279266C>G | CA397148722 | ANKRD11 | c.7276G>C (p.Ala2426Pro) c.*7079G>C (n.*7079G>C) c.745-4075G>C (n.745-4075G>C) c.152-4075G>C n.451G>C c.7174G>C (p.Ala2392Pro) c.6979G>C (p.Ala2327Pro) c.7147G>C (p.Ala2383Pro) | |
| 16 | g.89279266C>T | CA8241264 | ANKRD11 | c.7276G>A (p.Ala2426Thr) c.*7079G>A (n.*7079G>A) c.745-4075G>A (n.745-4075G>A) c.152-4075G>A n.451G>A c.7174G>A (p.Ala2392Thr) c.6979G>A (p.Ala2327Thr) c.7147G>A (p.Ala2383Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89279267A>C | CA397148723 | ANKRD11 | c.7275T>G (p.Asp2425Glu) c.*7078T>G (n.*7078T>G) c.745-4076T>G (n.745-4076T>G) c.152-4076T>G n.450T>G c.7173T>G (p.Asp2391Glu) c.6978T>G (p.Asp2326Glu) c.7146T>G (p.Asp2382Glu) | |
| 16 | g.89279267A>G | CA497372374 | ANKRD11 | c.7275T>C (p.Asp2425=) c.*7078T>C (n.*7078T>C) c.745-4076T>C (n.745-4076T>C) c.152-4076T>C n.450T>C c.7173T>C (p.Asp2391=) c.6978T>C (p.Asp2326=) c.7146T>C (p.Asp2382=) | |
| 16 | g.89279267A>T | CA397148724 | ANKRD11 | c.7275T>A (p.Asp2425Glu) c.*7078T>A (n.*7078T>A) c.745-4076T>A (n.745-4076T>A) c.152-4076T>A n.450T>A c.7173T>A (p.Asp2391Glu) c.6978T>A (p.Asp2326Glu) c.7146T>A (p.Asp2382Glu) | |
| 16 | g.89279268T>A | CA397148725 | ANKRD11 | c.7274A>T (p.Asp2425Val) c.*7077A>T (n.*7077A>T) c.745-4077A>T (n.745-4077A>T) c.152-4077A>T n.449A>T c.7172A>T (p.Asp2391Val) c.6977A>T (p.Asp2326Val) c.7145A>T (p.Asp2382Val) | |
| 16 | g.89279268T>C | CA397148726 | ANKRD11 | c.7274A>G (p.Asp2425Gly) c.*7077A>G (n.*7077A>G) c.745-4077A>G (n.745-4077A>G) c.152-4077A>G n.449A>G c.7172A>G (p.Asp2391Gly) c.6977A>G (p.Asp2326Gly) c.7145A>G (p.Asp2382Gly) | |
| 16 | g.89279268T>G | CA397148727 | ANKRD11 | c.7274A>C (p.Asp2425Ala) c.*7077A>C (n.*7077A>C) c.745-4077A>C (n.745-4077A>C) c.152-4077A>C n.449A>C c.7172A>C (p.Asp2391Ala) c.6977A>C (p.Asp2326Ala) c.7145A>C (p.Asp2382Ala) | |
| 16 | g.89279269C>A | CA397148728 | ANKRD11 | c.7273G>T (p.Asp2425Tyr) c.*7076G>T (n.*7076G>T) c.745-4078G>T (n.745-4078G>T) c.152-4078G>T n.448G>T c.7171G>T (p.Asp2391Tyr) c.6976G>T (p.Asp2326Tyr) c.7144G>T (p.Asp2382Tyr) | |
| 16 | g.89279269C>G | CA397148729 | ANKRD11 | c.7273G>C (p.Asp2425His) c.*7076G>C (n.*7076G>C) c.745-4078G>C (n.745-4078G>C) c.152-4078G>C n.448G>C c.7171G>C (p.Asp2391His) c.6976G>C (p.Asp2326His) c.7144G>C (p.Asp2382His) | |
| 16 | g.89279269C>T | CA397148730 | ANKRD11 | c.7273G>A (p.Asp2425Asn) c.*7076G>A (n.*7076G>A) c.745-4078G>A (n.745-4078G>A) c.152-4078G>A n.448G>A c.7171G>A (p.Asp2391Asn) c.6976G>A (p.Asp2326Asn) c.7144G>A (p.Asp2382Asn) | |
| 16 | g.89279270C>A | CA497372379 | ANKRD11 | c.7272G>T (p.Leu2424=) c.*7075G>T (n.*7075G>T) c.745-4079G>T (n.745-4079G>T) c.152-4079G>T n.447G>T c.7170G>T (p.Leu2390=) c.6975G>T (p.Leu2325=) c.7143G>T (p.Leu2381=) | ClinVar |
| 16 | g.89279270C>G | CA497372380 | ANKRD11 | c.7272G>C (p.Leu2424=) c.*7075G>C (n.*7075G>C) c.745-4079G>C (n.745-4079G>C) c.152-4079G>C n.447G>C c.7170G>C (p.Leu2390=) c.6975G>C (p.Leu2325=) c.7143G>C (p.Leu2381=) | |
| 16 | g.89279270C>T | CA497372381 | ANKRD11 | c.7272G>A (p.Leu2424=) c.*7075G>A (n.*7075G>A) c.745-4079G>A (n.745-4079G>A) c.152-4079G>A n.447G>A c.7170G>A (p.Leu2390=) c.6975G>A (p.Leu2325=) c.7143G>A (p.Leu2381=) | |
| 16 | g.89279271A>C | CA397148731 | ANKRD11 | c.7271T>G (p.Leu2424Arg) c.*7074T>G (n.*7074T>G) c.745-4080T>G (n.745-4080T>G) c.152-4080T>G n.446T>G c.7169T>G (p.Leu2390Arg) c.6974T>G (p.Leu2325Arg) c.7142T>G (p.Leu2381Arg) | |
| 16 | g.89279271A>G | CA397148733 | ANKRD11 | c.7271T>C (p.Leu2424Pro) c.*7074T>C (n.*7074T>C) c.745-4080T>C (n.745-4080T>C) c.152-4080T>C n.446T>C c.7169T>C (p.Leu2390Pro) c.6974T>C (p.Leu2325Pro) c.7142T>C (p.Leu2381Pro) | |
| 16 | g.89279271A>T | CA397148732 | ANKRD11 | c.7271T>A (p.Leu2424Gln) c.*7074T>A (n.*7074T>A) c.745-4080T>A (n.745-4080T>A) c.152-4080T>A n.446T>A c.7169T>A (p.Leu2390Gln) c.6974T>A (p.Leu2325Gln) c.7142T>A (p.Leu2381Gln) | |
| 16 | g.89279272G>A | CA497372383 | ANKRD11 | c.7270C>T (p.Leu2424=) c.*7073C>T (n.*7073C>T) c.745-4081C>T (n.745-4081C>T) c.152-4081C>T n.445C>T c.7168C>T (p.Leu2390=) c.6973C>T (p.Leu2325=) c.7141C>T (p.Leu2381=) | dbSNP gnomAD v4 |
| 16 | g.89279272G>C | CA397148734 | ANKRD11 | c.7270C>G (p.Leu2424Val) c.*7073C>G (n.*7073C>G) c.745-4081C>G (n.745-4081C>G) c.152-4081C>G n.445C>G c.7168C>G (p.Leu2390Val) c.6973C>G (p.Leu2325Val) c.7141C>G (p.Leu2381Val) | |
| 16 | g.89279272G= | CA2241586606 | ANKRD11 | c.7270C= (p.Leu2424=) c.*7073C= (n.*7073C=) c.745-4081C= (n.745-4081C=) c.152-4081C= n.445C= c.7168C= (p.Leu2390=) c.6973C= (p.Leu2325=) c.7141C= (p.Leu2381=) | |
| 16 | g.89279272G>T | CA397148735 | ANKRD11 | c.7270C>A (p.Leu2424Met) c.*7073C>A (n.*7073C>A) c.745-4081C>A (n.745-4081C>A) c.152-4081C>A n.445C>A c.7168C>A (p.Leu2390Met) c.6973C>A (p.Leu2325Met) c.7141C>A (p.Leu2381Met) | |
| 16 | g.89279273C>A | CA397148736 | ANKRD11 | c.7269G>T (p.Lys2423Asn) c.*7072G>T (n.*7072G>T) c.745-4082G>T (n.745-4082G>T) c.152-4082G>T n.444G>T c.7167G>T (p.Lys2389Asn) c.6972G>T (p.Lys2324Asn) c.7140G>T (p.Lys2380Asn) | |
| 16 | g.89279273C= | CA2241586607 | ANKRD11 | c.7269G= (p.Lys2423=) c.*7072G= (n.*7072G=) c.745-4082G= (n.745-4082G=) c.152-4082G= n.444G= c.7167G= (p.Lys2389=) c.6972G= (p.Lys2324=) c.7140G= (p.Lys2380=) | |
| 16 | g.89279273C>G | CA397148737 | ANKRD11 | c.7269G>C (p.Lys2423Asn) c.*7072G>C (n.*7072G>C) c.745-4082G>C (n.745-4082G>C) c.152-4082G>C n.444G>C c.7167G>C (p.Lys2389Asn) c.6972G>C (p.Lys2324Asn) c.7140G>C (p.Lys2380Asn) | |
| 16 | g.89279273C>T | CA497372386 | ANKRD11 | c.7269G>A (p.Lys2423=) c.*7072G>A (n.*7072G>A) c.745-4082G>A (n.745-4082G>A) c.152-4082G>A n.444G>A c.7167G>A (p.Lys2389=) c.6972G>A (p.Lys2324=) c.7140G>A (p.Lys2380=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89279274T>A | CA397148738 | ANKRD11 | c.7268A>T (p.Lys2423Met) c.*7071A>T (n.*7071A>T) c.745-4083A>T (n.745-4083A>T) c.152-4083A>T n.443A>T c.7166A>T (p.Lys2389Met) c.6971A>T (p.Lys2324Met) c.7139A>T (p.Lys2380Met) | |
| 16 | g.89279274T>C | CA397148739 | ANKRD11 | c.7268A>G (p.Lys2423Arg) c.*7071A>G (n.*7071A>G) c.745-4083A>G (n.745-4083A>G) c.152-4083A>G n.443A>G c.7166A>G (p.Lys2389Arg) c.6971A>G (p.Lys2324Arg) c.7139A>G (p.Lys2380Arg) | |
| 16 | g.89279274T>G | CA397148740 | ANKRD11 | c.7268A>C (p.Lys2423Thr) c.*7071A>C (n.*7071A>C) c.745-4083A>C (n.745-4083A>C) c.152-4083A>C n.443A>C c.7166A>C (p.Lys2389Thr) c.6971A>C (p.Lys2324Thr) c.7139A>C (p.Lys2380Thr) | gnomAD v4 |
| 16 | g.89279275T>A | CA397148741 | ANKRD11 | c.7267A>T (p.Lys2423Ter) c.*7070A>T (n.*7070A>T) c.745-4084A>T (n.745-4084A>T) c.152-4084A>T n.442A>T c.7165A>T (p.Lys2389Ter) c.6970A>T (p.Lys2324Ter) c.7138A>T (p.Lys2380Ter) | ClinVar |
| 16 | g.89279275T>C | CA397148742 | ANKRD11 | c.7267A>G (p.Lys2423Glu) c.*7070A>G (n.*7070A>G) c.745-4084A>G (n.745-4084A>G) c.152-4084A>G n.442A>G c.7165A>G (p.Lys2389Glu) c.6970A>G (p.Lys2324Glu) c.7138A>G (p.Lys2380Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89279275T>G | CA397148743 | ANKRD11 | c.7267A>C (p.Lys2423Gln) c.*7070A>C (n.*7070A>C) c.745-4084A>C (n.745-4084A>C) c.152-4084A>C n.442A>C c.7165A>C (p.Lys2389Gln) c.6970A>C (p.Lys2324Gln) c.7138A>C (p.Lys2380Gln) | |
| 16 | g.89279275T= | CA2241586609 | ANKRD11 | c.7267A= (p.Lys2423=) c.*7070A= (n.*7070A=) c.745-4084A= (n.745-4084A=) c.152-4084A= n.442A= c.7165A= (p.Lys2389=) c.6970A= (p.Lys2324=) c.7138A= (p.Lys2380=) | |
| 16 | g.89279275_89279287delinsTGATGGCGTCCAC | CA2241586608 | ANKRD11 | c.7255_7267delinsGTGGACGCCATCA (p.Val2419=) c.*7058_*7070delinsGTGGACGCCATCA (n.*7058_*7070delinsGTGGACGCCATCA) c.745-4096_745-4084delinsGTGGACGCCATCA (n.745-4096_745-4084delinsGTGGACGCCATCA) c.152-4096_152-4084delinsGTGGACGCCATCA n.430_442delinsGTGGACGCCATCA c.7153_7165delinsGTGGACGCCATCA (p.Val2385=) c.6958_6970delinsGTGGACGCCATCA (p.Val2320=) c.7126_7138delinsGTGGACGCCATCA (p.Val2376=) | |
| 16 | g.89279276G>A | CA497372393 | ANKRD11 | c.7266C>T (p.Ile2422=) c.*7069C>T (n.*7069C>T) c.745-4085C>T (n.745-4085C>T) c.152-4085C>T n.441C>T c.7164C>T (p.Ile2388=) c.6969C>T (p.Ile2323=) c.7137C>T (p.Ile2379=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89279276G>C | CA397148744 | ANKRD11 | c.7266C>G (p.Ile2422Met) c.*7069C>G (n.*7069C>G) c.745-4085C>G (n.745-4085C>G) c.152-4085C>G n.441C>G c.7164C>G (p.Ile2388Met) c.6969C>G (p.Ile2323Met) c.7137C>G (p.Ile2379Met) | gnomAD v4 |
| 16 | g.89279276G= | CA2241586611 | ANKRD11 | c.7266C= (p.Ile2422=) c.*7069C= (n.*7069C=) c.745-4085C= (n.745-4085C=) c.152-4085C= n.441C= c.7164C= (p.Ile2388=) c.6969C= (p.Ile2323=) c.7137C= (p.Ile2379=) | |
| 16 | g.89279276G>T | CA497372394 | ANKRD11 | c.7266C>A (p.Ile2422=) c.*7069C>A (n.*7069C>A) c.745-4085C>A (n.745-4085C>A) c.152-4085C>A n.441C>A c.7164C>A (p.Ile2388=) c.6969C>A (p.Ile2323=) c.7137C>A (p.Ile2379=) | gnomAD v4 |
| 16 | g.89279283_89279294del | CA2241586610 | ANKRD11 | c.7255_7266del (p.Val2419_Ile2422del) c.*7058_*7069del (n.*7058_*7069del) c.745-4096_745-4085del (n.745-4096_745-4085del) c.152-4096_152-4085del n.430_441del c.7153_7164del (p.Val2385_Ile2388del) c.6958_6969del (p.Val2320_Ile2323del) c.7126_7137del (p.Val2376_Ile2379del) | ClinVar dbSNP gnomAD v4 |
| 16 | g.89279277A= | CA2241586612 | ANKRD11 | c.7265T= (p.Ile2422=) c.*7068T= (n.*7068T=) c.745-4086T= (n.745-4086T=) c.152-4086T= n.440T= c.7163T= (p.Ile2388=) c.6968T= (p.Ile2323=) c.7136T= (p.Ile2379=) | |
| 16 | g.89279277A>C | CA397148746 | ANKRD11 | c.7265T>G (p.Ile2422Ser) c.*7068T>G (n.*7068T>G) c.745-4086T>G (n.745-4086T>G) c.152-4086T>G n.440T>G c.7163T>G (p.Ile2388Ser) c.6968T>G (p.Ile2323Ser) c.7136T>G (p.Ile2379Ser) | |
| 16 | g.89279277A>G | CA8241265 | ANKRD11 | c.7265T>C (p.Ile2422Thr) c.*7068T>C (n.*7068T>C) c.745-4086T>C (n.745-4086T>C) c.152-4086T>C n.440T>C c.7163T>C (p.Ile2388Thr) c.6968T>C (p.Ile2323Thr) c.7136T>C (p.Ile2379Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89279277A>T | CA397148745 | ANKRD11 | c.7265T>A (p.Ile2422Asn) c.*7068T>A (n.*7068T>A) c.745-4086T>A (n.745-4086T>A) c.152-4086T>A n.440T>A c.7163T>A (p.Ile2388Asn) c.6968T>A (p.Ile2323Asn) c.7136T>A (p.Ile2379Asn) | |
| 16 | g.89279278T>A | CA397148747 | ANKRD11 | c.7264A>T (p.Ile2422Phe) c.*7067A>T (n.*7067A>T) c.745-4087A>T (n.745-4087A>T) c.152-4087A>T n.439A>T c.7162A>T (p.Ile2388Phe) c.6967A>T (p.Ile2323Phe) c.7135A>T (p.Ile2379Phe) | |
| 16 | g.89279278T>C | CA397148748 | ANKRD11 | c.7264A>G (p.Ile2422Val) c.*7067A>G (n.*7067A>G) c.745-4087A>G (n.745-4087A>G) c.152-4087A>G n.439A>G c.7162A>G (p.Ile2388Val) c.6967A>G (p.Ile2323Val) c.7135A>G (p.Ile2379Val) | COSMIC |
| 16 | g.89279278T>G | CA397148749 | ANKRD11 | c.7264A>C (p.Ile2422Leu) c.*7067A>C (n.*7067A>C) c.745-4087A>C (n.745-4087A>C) c.152-4087A>C n.439A>C c.7162A>C (p.Ile2388Leu) c.6967A>C (p.Ile2323Leu) c.7135A>C (p.Ile2379Leu) | |
| 16 | g.89279279G>A | CA286509382 | ANKRD11 | c.7263C>T (p.Ala2421=) c.*7066C>T (n.*7066C>T) c.745-4088C>T (n.745-4088C>T) c.152-4088C>T n.438C>T c.7161C>T (p.Ala2387=) c.6966C>T (p.Ala2322=) c.7134C>T (p.Ala2378=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89279279G>C | CA497372398 | ANKRD11 | c.7263C>G (p.Ala2421=) c.*7066C>G (n.*7066C>G) c.745-4088C>G (n.745-4088C>G) c.152-4088C>G n.438C>G c.7161C>G (p.Ala2387=) c.6966C>G (p.Ala2322=) c.7134C>G (p.Ala2378=) | |
| 16 | g.89279279G= | CA2241586613 | ANKRD11 | c.7263C= (p.Ala2421=) c.*7066C= (n.*7066C=) c.745-4088C= (n.745-4088C=) c.152-4088C= n.438C= c.7161C= (p.Ala2387=) c.6966C= (p.Ala2322=) c.7134C= (p.Ala2378=) | |
| 16 | g.89279279G>T | CA497372397 | ANKRD11 | c.7263C>A (p.Ala2421=) c.*7066C>A (n.*7066C>A) c.745-4088C>A (n.745-4088C>A) c.152-4088C>A n.438C>A c.7161C>A (p.Ala2387=) c.6966C>A (p.Ala2322=) c.7134C>A (p.Ala2378=) | |
| 16 | g.89279280G>A | CA397148750 | ANKRD11 | c.7262C>T (p.Ala2421Val) c.*7065C>T (n.*7065C>T) c.745-4089C>T (n.745-4089C>T) c.152-4089C>T n.437C>T c.7160C>T (p.Ala2387Val) c.6965C>T (p.Ala2322Val) c.7133C>T (p.Ala2378Val) | COSMIC |
| 16 | g.89279280G>C | CA8241266 | ANKRD11 | c.7262C>G (p.Ala2421Gly) c.*7065C>G (n.*7065C>G) c.745-4089C>G (n.745-4089C>G) c.152-4089C>G n.437C>G c.7160C>G (p.Ala2387Gly) c.6965C>G (p.Ala2322Gly) c.7133C>G (p.Ala2378Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89279280G= | CA2241586614 | ANKRD11 | c.7262C= (p.Ala2421=) c.*7065C= (n.*7065C=) c.745-4089C= (n.745-4089C=) c.152-4089C= n.437C= c.7160C= (p.Ala2387=) c.6965C= (p.Ala2322=) c.7133C= (p.Ala2378=) | |
| 16 | g.89279280G>T | CA397148751 | ANKRD11 | c.7262C>A (p.Ala2421Asp) c.*7065C>A (n.*7065C>A) c.745-4089C>A (n.745-4089C>A) c.152-4089C>A n.437C>A c.7160C>A (p.Ala2387Asp) c.6965C>A (p.Ala2322Asp) c.7133C>A (p.Ala2378Asp) | |
| 16 | g.89279281C>A | CA397148752 | ANKRD11 | c.7261G>T (p.Ala2421Ser) c.*7064G>T (n.*7064G>T) c.745-4090G>T (n.745-4090G>T) c.152-4090G>T n.436G>T c.7159G>T (p.Ala2387Ser) c.6964G>T (p.Ala2322Ser) c.7132G>T (p.Ala2378Ser) | dbSNP gnomAD v2 |
| 16 | g.89279281C= | CA2241586615 | ANKRD11 | c.7261G= (p.Ala2421=) c.*7064G= (n.*7064G=) c.745-4090G= (n.745-4090G=) c.152-4090G= n.436G= c.7159G= (p.Ala2387=) c.6964G= (p.Ala2322=) c.7132G= (p.Ala2378=) | |
| 16 | g.89279281C>G | CA397148753 | ANKRD11 | c.7261G>C (p.Ala2421Pro) c.*7064G>C (n.*7064G>C) c.745-4090G>C (n.745-4090G>C) c.152-4090G>C n.436G>C c.7159G>C (p.Ala2387Pro) c.6964G>C (p.Ala2322Pro) c.7132G>C (p.Ala2378Pro) | |
| 16 | g.89279281C>T | CA286509388 | ANKRD11 | c.7261G>A (p.Ala2421Thr) c.*7064G>A (n.*7064G>A) c.745-4090G>A (n.745-4090G>A) c.152-4090G>A n.436G>A c.7159G>A (p.Ala2387Thr) c.6964G>A (p.Ala2322Thr) c.7132G>A (p.Ala2378Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89279282G>A | CA497372405 | ANKRD11 | c.7260C>T (p.Asp2420=) c.*7063C>T (n.*7063C>T) c.745-4091C>T (n.745-4091C>T) c.152-4091C>T n.435C>T c.7158C>T (p.Asp2386=) c.6963C>T (p.Asp2321=) c.7131C>T (p.Asp2377=) | dbSNP gnomAD v4 |
| 16 | g.89279282G>C | CA397148754 | ANKRD11 | c.7260C>G (p.Asp2420Glu) c.*7063C>G (n.*7063C>G) c.745-4091C>G (n.745-4091C>G) c.152-4091C>G n.435C>G c.7158C>G (p.Asp2386Glu) c.6963C>G (p.Asp2321Glu) c.7131C>G (p.Asp2377Glu) | |
| 16 | g.89279282G= | CA2241586616 | ANKRD11 | c.7260C= (p.Asp2420=) c.*7063C= (n.*7063C=) c.745-4091C= (n.745-4091C=) c.152-4091C= n.435C= c.7158C= (p.Asp2386=) c.6963C= (p.Asp2321=) c.7131C= (p.Asp2377=) | |
| 16 | g.89279282G>T | CA397148755 | ANKRD11 | c.7260C>A (p.Asp2420Glu) c.*7063C>A (n.*7063C>A) c.745-4091C>A (n.745-4091C>A) c.152-4091C>A n.435C>A c.7158C>A (p.Asp2386Glu) c.6963C>A (p.Asp2321Glu) c.7131C>A (p.Asp2377Glu) | gnomAD v4 |
| 16 | g.89279283T>A | CA397148758 | ANKRD11 | c.7259A>T (p.Asp2420Val) c.*7062A>T (n.*7062A>T) c.745-4092A>T (n.745-4092A>T) c.152-4092A>T n.434A>T c.7157A>T (p.Asp2386Val) c.6962A>T (p.Asp2321Val) c.7130A>T (p.Asp2377Val) | |
| 16 | g.89279283T>C | CA397148757 | ANKRD11 | c.7259A>G (p.Asp2420Gly) c.*7062A>G (n.*7062A>G) c.745-4092A>G (n.745-4092A>G) c.152-4092A>G n.434A>G c.7157A>G (p.Asp2386Gly) c.6962A>G (p.Asp2321Gly) c.7130A>G (p.Asp2377Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89279283T>G | CA397148756 | ANKRD11 | c.7259A>C (p.Asp2420Ala) c.*7062A>C (n.*7062A>C) c.745-4092A>C (n.745-4092A>C) c.152-4092A>C n.434A>C c.7157A>C (p.Asp2386Ala) c.6962A>C (p.Asp2321Ala) c.7130A>C (p.Asp2377Ala) | |
| 16 | g.89279283T= | CA2241586617 | ANKRD11 | c.7259A= (p.Asp2420=) c.*7062A= (n.*7062A=) c.745-4092A= (n.745-4092A=) c.152-4092A= n.434A= c.7157A= (p.Asp2386=) c.6962A= (p.Asp2321=) c.7130A= (p.Asp2377=) | |
| 16 | g.89279284C>A | CA397148759 | ANKRD11 | c.7258G>T (p.Asp2420Tyr) c.*7061G>T (n.*7061G>T) c.745-4093G>T (n.745-4093G>T) c.152-4093G>T n.433G>T c.7156G>T (p.Asp2386Tyr) c.6961G>T (p.Asp2321Tyr) c.7129G>T (p.Asp2377Tyr) | |
| 16 | g.89279284C>G | CA397148761 | ANKRD11 | c.7258G>C (p.Asp2420His) c.*7061G>C (n.*7061G>C) c.745-4093G>C (n.745-4093G>C) c.152-4093G>C n.433G>C c.7156G>C (p.Asp2386His) c.6961G>C (p.Asp2321His) c.7129G>C (p.Asp2377His) | |
| 16 | g.89279284C>T | CA397148760 | ANKRD11 | c.7258G>A (p.Asp2420Asn) c.*7061G>A (n.*7061G>A) c.745-4093G>A (n.745-4093G>A) c.152-4093G>A n.433G>A c.7156G>A (p.Asp2386Asn) c.6961G>A (p.Asp2321Asn) c.7129G>A (p.Asp2377Asn) | |
| 16 | g.89279287_89279298del | CA2634940961 | ANKRD11 | c.7247_7258del (p.Ala2416_Val2419del) c.*7050_*7061del (n.*7050_*7061del) c.745-4104_745-4093del (n.745-4104_745-4093del) c.152-4104_152-4093del n.422_433del c.7145_7156del (p.Ala2382_Val2385del) c.6950_6961del (p.Ala2317_Val2320del) c.7118_7129del (p.Ala2373_Val2376del) | dbSNP gnomAD v4 |
| 16 | g.89279285C>A | CA497372407 | ANKRD11 | c.7257G>T (p.Val2419=) c.*7060G>T (n.*7060G>T) c.745-4094G>T (n.745-4094G>T) c.152-4094G>T n.432G>T c.7155G>T (p.Val2385=) c.6960G>T (p.Val2320=) c.7128G>T (p.Val2376=) | gnomAD v4 |
| 16 | g.89279285C= | CA2241586618 | ANKRD11 | c.7257G= (p.Val2419=) c.*7060G= (n.*7060G=) c.745-4094G= (n.745-4094G=) c.152-4094G= n.432G= c.7155G= (p.Val2385=) c.6960G= (p.Val2320=) c.7128G= (p.Val2376=) | |
| 16 | g.89279285C>G | CA497372409 | ANKRD11 | c.7257G>C (p.Val2419=) c.*7060G>C (n.*7060G>C) c.745-4094G>C (n.745-4094G>C) c.152-4094G>C n.432G>C c.7155G>C (p.Val2385=) c.6960G>C (p.Val2320=) c.7128G>C (p.Val2376=) | |
| 16 | g.89279285C>T | CA497372410 | ANKRD11 | c.7257G>A (p.Val2419=) c.*7060G>A (n.*7060G>A) c.745-4094G>A (n.745-4094G>A) c.152-4094G>A n.432G>A c.7155G>A (p.Val2385=) c.6960G>A (p.Val2320=) c.7128G>A (p.Val2376=) | dbSNP gnomAD v4 |
| 16 | g.89279286A>C | CA397148762 | ANKRD11 | c.7256T>G (p.Val2419Gly) c.*7059T>G (n.*7059T>G) c.745-4095T>G (n.745-4095T>G) c.152-4095T>G n.431T>G c.7154T>G (p.Val2385Gly) c.6959T>G (p.Val2320Gly) c.7127T>G (p.Val2376Gly) | |
| 16 | g.89279286A>G | CA397148763 | ANKRD11 | c.7256T>C (p.Val2419Ala) c.*7059T>C (n.*7059T>C) c.745-4095T>C (n.745-4095T>C) c.152-4095T>C n.431T>C c.7154T>C (p.Val2385Ala) c.6959T>C (p.Val2320Ala) c.7127T>C (p.Val2376Ala) | |
| 16 | g.89279286A>T | CA397148764 | ANKRD11 | c.7256T>A (p.Val2419Glu) c.*7059T>A (n.*7059T>A) c.745-4095T>A (n.745-4095T>A) c.152-4095T>A n.431T>A c.7154T>A (p.Val2385Glu) c.6959T>A (p.Val2320Glu) c.7127T>A (p.Val2376Glu) | |
| 16 | g.89279287C>A | CA397148765 | ANKRD11 | c.7255G>T (p.Val2419Leu) c.*7058G>T (n.*7058G>T) c.745-4096G>T (n.745-4096G>T) c.152-4096G>T n.430G>T c.7153G>T (p.Val2385Leu) c.6958G>T (p.Val2320Leu) c.7126G>T (p.Val2376Leu) | gnomAD v4 |
| 16 | g.89279287C>G | CA397148766 | ANKRD11 | c.7255G>C (p.Val2419Leu) c.*7058G>C (n.*7058G>C) c.745-4096G>C (n.745-4096G>C) c.152-4096G>C n.430G>C c.7153G>C (p.Val2385Leu) c.6958G>C (p.Val2320Leu) c.7126G>C (p.Val2376Leu) | |
| 16 | g.89279287C>T | CA397148767 | ANKRD11 | c.7255G>A (p.Val2419Met) c.*7058G>A (n.*7058G>A) c.745-4096G>A (n.745-4096G>A) c.152-4096G>A n.430G>A c.7153G>A (p.Val2385Met) c.6958G>A (p.Val2320Met) c.7126G>A (p.Val2376Met) | gnomAD v4 |
| 16 | g.89279288G>A | CA497372415 | ANKRD11 | c.7254C>T (p.Ile2418=) c.*7057C>T (n.*7057C>T) c.745-4097C>T (n.745-4097C>T) c.152-4097C>T n.429C>T c.7152C>T (p.Ile2384=) c.6957C>T (p.Ile2319=) c.7125C>T (p.Ile2375=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89279288G>C | CA397148768 | ANKRD11 | c.7254C>G (p.Ile2418Met) c.*7057C>G (n.*7057C>G) c.745-4097C>G (n.745-4097C>G) c.152-4097C>G n.429C>G c.7152C>G (p.Ile2384Met) c.6957C>G (p.Ile2319Met) c.7125C>G (p.Ile2375Met) | |
| 16 | g.89279288G= | CA2241586619 | ANKRD11 | c.7254C= (p.Ile2418=) c.*7057C= (n.*7057C=) c.745-4097C= (n.745-4097C=) c.152-4097C= n.429C= c.7152C= (p.Ile2384=) c.6957C= (p.Ile2319=) c.7125C= (p.Ile2375=) | |
| 16 | g.89279288G>T | CA497372416 | ANKRD11 | c.7254C>A (p.Ile2418=) c.*7057C>A (n.*7057C>A) c.745-4097C>A (n.745-4097C>A) c.152-4097C>A n.429C>A c.7152C>A (p.Ile2384=) c.6957C>A (p.Ile2319=) c.7125C>A (p.Ile2375=) | |
| 16 | g.89279289A>C | CA397148769 | ANKRD11 | c.7253T>G (p.Ile2418Ser) c.*7056T>G (n.*7056T>G) c.745-4098T>G (n.745-4098T>G) c.152-4098T>G n.428T>G c.7151T>G (p.Ile2384Ser) c.6956T>G (p.Ile2319Ser) c.7124T>G (p.Ile2375Ser) | |
| 16 | g.89279289A>G | CA397148770 | ANKRD11 | c.7253T>C (p.Ile2418Thr) c.*7056T>C (n.*7056T>C) c.745-4098T>C (n.745-4098T>C) c.152-4098T>C n.428T>C c.7151T>C (p.Ile2384Thr) c.6956T>C (p.Ile2319Thr) c.7124T>C (p.Ile2375Thr) | ClinVar |
| 16 | g.89279289A>T | CA397148771 | ANKRD11 | c.7253T>A (p.Ile2418Asn) c.*7056T>A (n.*7056T>A) c.745-4098T>A (n.745-4098T>A) c.152-4098T>A n.428T>A c.7151T>A (p.Ile2384Asn) c.6956T>A (p.Ile2319Asn) c.7124T>A (p.Ile2375Asn) | |
| 16 | g.89279290T>A | CA397148772 | ANKRD11 | c.7252A>T (p.Ile2418Phe) c.*7055A>T (n.*7055A>T) c.745-4099A>T (n.745-4099A>T) c.152-4099A>T n.427A>T c.7150A>T (p.Ile2384Phe) c.6955A>T (p.Ile2319Phe) c.7123A>T (p.Ile2375Phe) | |
| 16 | g.89279290T>C | CA397148773 | ANKRD11 | c.7252A>G (p.Ile2418Val) c.*7055A>G (n.*7055A>G) c.745-4099A>G (n.745-4099A>G) c.152-4099A>G n.427A>G c.7150A>G (p.Ile2384Val) c.6955A>G (p.Ile2319Val) c.7123A>G (p.Ile2375Val) | gnomAD v4 COSMIC |
| 16 | g.89279290T>G | CA397148774 | ANKRD11 | c.7252A>C (p.Ile2418Leu) c.*7055A>C (n.*7055A>C) c.745-4099A>C (n.745-4099A>C) c.152-4099A>C n.427A>C c.7150A>C (p.Ile2384Leu) c.6955A>C (p.Ile2319Leu) c.7123A>C (p.Ile2375Leu) | |
| 16 | g.89279291G>A | CA497372417 | ANKRD11 | c.7251C>T (p.Ala2417=) c.*7054C>T (n.*7054C>T) c.745-4100C>T (n.745-4100C>T) c.152-4100C>T n.426C>T c.7149C>T (p.Ala2383=) c.6954C>T (p.Ala2318=) c.7122C>T (p.Ala2374=) | |
| 16 | g.89279291G>C | CA497372419 | ANKRD11 | c.7251C>G (p.Ala2417=) c.*7054C>G (n.*7054C>G) c.745-4100C>G (n.745-4100C>G) c.152-4100C>G n.426C>G c.7149C>G (p.Ala2383=) c.6954C>G (p.Ala2318=) c.7122C>G (p.Ala2374=) | |
| 16 | g.89279291G>T | CA497372420 | ANKRD11 | c.7251C>A (p.Ala2417=) c.*7054C>A (n.*7054C>A) c.745-4100C>A (n.745-4100C>A) c.152-4100C>A n.426C>A c.7149C>A (p.Ala2383=) c.6954C>A (p.Ala2318=) c.7122C>A (p.Ala2374=) | |
| 16 | g.89279292G>A | CA397148775 | ANKRD11 | c.7250C>T (p.Ala2417Val) c.*7053C>T (n.*7053C>T) c.745-4101C>T (n.745-4101C>T) c.152-4101C>T n.425C>T c.7148C>T (p.Ala2383Val) c.6953C>T (p.Ala2318Val) c.7121C>T (p.Ala2374Val) | |
| 16 | g.89279292G>C | CA397148777 | ANKRD11 | c.7250C>G (p.Ala2417Gly) c.*7053C>G (n.*7053C>G) c.745-4101C>G (n.745-4101C>G) c.152-4101C>G n.425C>G c.7148C>G (p.Ala2383Gly) c.6953C>G (p.Ala2318Gly) c.7121C>G (p.Ala2374Gly) | |
| 16 | g.89279292G>T | CA397148776 | ANKRD11 | c.7250C>A (p.Ala2417Asp) c.*7053C>A (n.*7053C>A) c.745-4101C>A (n.745-4101C>A) c.152-4101C>A n.425C>A c.7148C>A (p.Ala2383Asp) c.6953C>A (p.Ala2318Asp) c.7121C>A (p.Ala2374Asp) | |
| 16 | g.89279293C>A | CA397148778 | ANKRD11 | c.7249G>T (p.Ala2417Ser) c.*7052G>T (n.*7052G>T) c.745-4102G>T (n.745-4102G>T) c.152-4102G>T n.424G>T c.7147G>T (p.Ala2383Ser) c.6952G>T (p.Ala2318Ser) c.7120G>T (p.Ala2374Ser) | |
| 16 | g.89279293C= | CA2241586620 | ANKRD11 | c.7249G= (p.Ala2417=) c.*7052G= (n.*7052G=) c.745-4102G= (n.745-4102G=) c.152-4102G= n.424G= c.7147G= (p.Ala2383=) c.6952G= (p.Ala2318=) c.7120G= (p.Ala2374=) | |
| 16 | g.89279293C>G | CA397148779 | ANKRD11 | c.7249G>C (p.Ala2417Pro) c.*7052G>C (n.*7052G>C) c.745-4102G>C (n.745-4102G>C) c.152-4102G>C n.424G>C c.7147G>C (p.Ala2383Pro) c.6952G>C (p.Ala2318Pro) c.7120G>C (p.Ala2374Pro) | |
| 16 | g.89279293C>T | CA397148781 | ANKRD11 | c.7249G>A (p.Ala2417Thr) c.*7052G>A (n.*7052G>A) c.745-4102G>A (n.745-4102G>A) c.152-4102G>A n.424G>A c.7147G>A (p.Ala2383Thr) c.6952G>A (p.Ala2318Thr) c.7120G>A (p.Ala2374Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89279294G>A | CA8241267 | ANKRD11 | c.7248C>T (p.Ala2416=) c.*7051C>T (n.*7051C>T) c.745-4103C>T (n.745-4103C>T) c.152-4103C>T n.423C>T c.7146C>T (p.Ala2382=) c.6951C>T (p.Ala2317=) c.7119C>T (p.Ala2373=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89279294G>C | CA497372426 | ANKRD11 | c.7248C>G (p.Ala2416=) c.*7051C>G (n.*7051C>G) c.745-4103C>G (n.745-4103C>G) c.152-4103C>G n.423C>G c.7146C>G (p.Ala2382=) c.6951C>G (p.Ala2317=) c.7119C>G (p.Ala2373=) | |
| 16 | g.89279294G= | CA2241586621 | ANKRD11 | c.7248C= (p.Ala2416=) c.*7051C= (n.*7051C=) c.745-4103C= (n.745-4103C=) c.152-4103C= n.423C= c.7146C= (p.Ala2382=) c.6951C= (p.Ala2317=) c.7119C= (p.Ala2373=) | |
| 16 | g.89279294G>T | CA497372427 | ANKRD11 | c.7248C>A (p.Ala2416=) c.*7051C>A (n.*7051C>A) c.745-4103C>A (n.745-4103C>A) c.152-4103C>A n.423C>A c.7146C>A (p.Ala2382=) c.6951C>A (p.Ala2317=) c.7119C>A (p.Ala2373=) | gnomAD v4 |
| 16 | g.89279295G>A | CA397148783 | ANKRD11 | c.7247C>T (p.Ala2416Val) c.*7050C>T (n.*7050C>T) c.745-4104C>T (n.745-4104C>T) c.152-4104C>T n.422C>T c.7145C>T (p.Ala2382Val) c.6950C>T (p.Ala2317Val) c.7118C>T (p.Ala2373Val) | gnomAD v4 |
| 16 | g.89279295G>C | CA397148785 | ANKRD11 | c.7247C>G (p.Ala2416Gly) c.*7050C>G (n.*7050C>G) c.745-4104C>G (n.745-4104C>G) c.152-4104C>G n.422C>G c.7145C>G (p.Ala2382Gly) c.6950C>G (p.Ala2317Gly) c.7118C>G (p.Ala2373Gly) | |
| 16 | g.89279295G>T | CA397148787 | ANKRD11 | c.7247C>A (p.Ala2416Asp) c.*7050C>A (n.*7050C>A) c.745-4104C>A (n.745-4104C>A) c.152-4104C>A n.422C>A c.7145C>A (p.Ala2382Asp) c.6950C>A (p.Ala2317Asp) c.7118C>A (p.Ala2373Asp) | |
| 16 | g.89279297_89279300del | CA2580092260 | ANKRD11 | c.7244_7247del (p.Leu2415ProfsTer?) c.*7047_*7050del (n.*7047_*7050del) c.745-4107_745-4104del (n.745-4107_745-4104del) c.152-4107_152-4104del n.419_422del c.7142_7145del (p.Leu2381ProfsTer?) c.6947_6950del (p.Leu2316ProfsTer?) c.7115_7118del (p.Leu2372ProfsTer?) | ClinVar |
| 16 | g.89279296C>A | CA397148789 | ANKRD11 | c.7246G>T (p.Ala2416Ser) c.*7049G>T (n.*7049G>T) c.745-4105G>T (n.745-4105G>T) c.152-4105G>T n.421G>T c.7144G>T (p.Ala2382Ser) c.6949G>T (p.Ala2317Ser) c.7117G>T (p.Ala2373Ser) | |
| 16 | g.89279296C>G | CA397148790 | ANKRD11 | c.7246G>C (p.Ala2416Pro) c.*7049G>C (n.*7049G>C) c.745-4105G>C (n.745-4105G>C) c.152-4105G>C n.421G>C c.7144G>C (p.Ala2382Pro) c.6949G>C (p.Ala2317Pro) c.7117G>C (p.Ala2373Pro) | |
| 16 | g.89279296C>T | CA397148792 | ANKRD11 | c.7246G>A (p.Ala2416Thr) c.*7049G>A (n.*7049G>A) c.745-4105G>A (n.745-4105G>A) c.152-4105G>A n.421G>A c.7144G>A (p.Ala2382Thr) c.6949G>A (p.Ala2317Thr) c.7117G>A (p.Ala2373Thr) | |
| 16 | g.89279297C>A | CA497372432 | ANKRD11 | c.7245G>T (p.Leu2415=) c.*7048G>T (n.*7048G>T) c.745-4106G>T (n.745-4106G>T) c.152-4106G>T n.420G>T c.7143G>T (p.Leu2381=) c.6948G>T (p.Leu2316=) c.7116G>T (p.Leu2372=) | gnomAD v4 |
| 16 | g.89279297C>G | CA497372434 | ANKRD11 | c.7245G>C (p.Leu2415=) c.*7048G>C (n.*7048G>C) c.745-4106G>C (n.745-4106G>C) c.152-4106G>C n.420G>C c.7143G>C (p.Leu2381=) c.6948G>C (p.Leu2316=) c.7116G>C (p.Leu2372=) | |
| 16 | g.89279297C>T | CA497372433 | ANKRD11 | c.7245G>A (p.Leu2415=) c.*7048G>A (n.*7048G>A) c.745-4106G>A (n.745-4106G>A) c.152-4106G>A n.420G>A c.7143G>A (p.Leu2381=) c.6948G>A (p.Leu2316=) c.7116G>A (p.Leu2372=) | gnomAD v4 |
| 16 | g.89279298A>C | CA397148797 | ANKRD11 | c.7244T>G (p.Leu2415Arg) c.*7047T>G (n.*7047T>G) c.745-4107T>G (n.745-4107T>G) c.152-4107T>G n.419T>G c.7142T>G (p.Leu2381Arg) c.6947T>G (p.Leu2316Arg) c.7115T>G (p.Leu2372Arg) | |
| 16 | g.89279298A>G | CA397148796 | ANKRD11 | c.7244T>C (p.Leu2415Pro) c.*7047T>C (n.*7047T>C) c.745-4107T>C (n.745-4107T>C) c.152-4107T>C n.419T>C c.7142T>C (p.Leu2381Pro) c.6947T>C (p.Leu2316Pro) c.7115T>C (p.Leu2372Pro) | |
| 16 | g.89279298A>T | CA397148795 | ANKRD11 | c.7244T>A (p.Leu2415Gln) c.*7047T>A (n.*7047T>A) c.745-4107T>A (n.745-4107T>A) c.152-4107T>A n.419T>A c.7142T>A (p.Leu2381Gln) c.6947T>A (p.Leu2316Gln) c.7115T>A (p.Leu2372Gln) | |
| 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.89279299G>A | CA8241268 | ANKRD11 | c.7243C>T (p.Leu2415=) c.*7046C>T (n.*7046C>T) c.745-4108C>T (n.745-4108C>T) c.152-4108C>T n.418C>T c.7141C>T (p.Leu2381=) c.6946C>T (p.Leu2316=) c.7114C>T (p.Leu2372=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89279299G>C | CA397148800 | ANKRD11 | c.7243C>G (p.Leu2415Val) c.*7046C>G (n.*7046C>G) c.745-4108C>G (n.745-4108C>G) c.152-4108C>G n.418C>G c.7141C>G (p.Leu2381Val) c.6946C>G (p.Leu2316Val) c.7114C>G (p.Leu2372Val) | |
| 16 | g.89279299G= | CA2241586624 | ANKRD11 | c.7243C= (p.Leu2415=) c.*7046C= (n.*7046C=) c.745-4108C= (n.745-4108C=) c.152-4108C= n.418C= c.7141C= (p.Leu2381=) c.6946C= (p.Leu2316=) c.7114C= (p.Leu2372=) | |
| 16 | g.89279299G>T | CA397148801 | ANKRD11 | c.7243C>A (p.Leu2415Met) c.*7046C>A (n.*7046C>A) c.745-4108C>A (n.745-4108C>A) c.152-4108C>A n.418C>A c.7141C>A (p.Leu2381Met) c.6946C>A (p.Leu2316Met) c.7114C>A (p.Leu2372Met) | |
| 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.89279300C>A | CA497372435 | ANKRD11 | c.7242G>T (p.Thr2414=) c.*7045G>T (n.*7045G>T) c.745-4109G>T (n.745-4109G>T) c.152-4109G>T n.417G>T c.7140G>T (p.Thr2380=) c.6945G>T (p.Thr2315=) c.7113G>T (p.Thr2371=) | gnomAD v4 |
| 16 | g.89279300C>G | CA497372436 | ANKRD11 | c.7242G>C (p.Thr2414=) c.*7045G>C (n.*7045G>C) c.745-4109G>C (n.745-4109G>C) c.152-4109G>C n.417G>C c.7140G>C (p.Thr2380=) c.6945G>C (p.Thr2315=) c.7113G>C (p.Thr2371=) | |
| 16 | g.89279300C>T | CA497372437 | ANKRD11 | c.7242G>A (p.Thr2414=) c.*7045G>A (n.*7045G>A) c.745-4109G>A (n.745-4109G>A) c.152-4109G>A n.417G>A c.7140G>A (p.Thr2380=) c.6945G>A (p.Thr2315=) c.7113G>A (p.Thr2371=) | gnomAD v4 COSMIC |
| 16 | g.89279301G>A | CA397148803 | ANKRD11 | c.7241C>T (p.Thr2414Met) c.*7044C>T (n.*7044C>T) c.745-4110C>T (n.745-4110C>T) c.152-4110C>T n.416C>T c.7139C>T (p.Thr2380Met) c.6944C>T (p.Thr2315Met) c.7112C>T (p.Thr2371Met) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89279301G>C | CA397148805 | ANKRD11 | c.7241C>G (p.Thr2414Arg) c.*7044C>G (n.*7044C>G) c.745-4110C>G (n.745-4110C>G) c.152-4110C>G n.416C>G c.7139C>G (p.Thr2380Arg) c.6944C>G (p.Thr2315Arg) c.7112C>G (p.Thr2371Arg) | gnomAD v4 |
| 16 | g.89279301G= | CA2241586625 | ANKRD11 | c.7241C= (p.Thr2414=) c.*7044C= (n.*7044C=) c.745-4110C= (n.745-4110C=) c.152-4110C= n.416C= c.7139C= (p.Thr2380=) c.6944C= (p.Thr2315=) c.7112C= (p.Thr2371=) | |
| 16 | g.89279301G>T | CA397148807 | ANKRD11 | c.7241C>A (p.Thr2414Lys) c.*7044C>A (n.*7044C>A) c.745-4110C>A (n.745-4110C>A) c.152-4110C>A n.416C>A c.7139C>A (p.Thr2380Lys) c.6944C>A (p.Thr2315Lys) c.7112C>A (p.Thr2371Lys) | |
| 16 | g.89279302T>A | CA397148809 | ANKRD11 | c.7240A>T (p.Thr2414Ser) c.*7043A>T (n.*7043A>T) c.745-4111A>T (n.745-4111A>T) c.152-4111A>T n.415A>T c.7138A>T (p.Thr2380Ser) c.6943A>T (p.Thr2315Ser) c.7111A>T (p.Thr2371Ser) | |
| 16 | g.89279302T>C | CA397148811 | ANKRD11 | c.7240A>G (p.Thr2414Ala) c.*7043A>G (n.*7043A>G) c.745-4111A>G (n.745-4111A>G) c.152-4111A>G n.415A>G c.7138A>G (p.Thr2380Ala) c.6943A>G (p.Thr2315Ala) c.7111A>G (p.Thr2371Ala) | |
| 16 | g.89279302T>G | CA397148812 | ANKRD11 | c.7240A>C (p.Thr2414Pro) c.*7043A>C (n.*7043A>C) c.745-4111A>C (n.745-4111A>C) c.152-4111A>C n.415A>C c.7138A>C (p.Thr2380Pro) c.6943A>C (p.Thr2315Pro) c.7111A>C (p.Thr2371Pro) | |
| 16 | g.89279303C>A | CA397148814 | ANKRD11 | c.7239G>T (p.Gln2413His) c.*7042G>T (n.*7042G>T) c.745-4112G>T (n.745-4112G>T) c.152-4112G>T n.414G>T c.7137G>T (p.Gln2379His) c.6942G>T (p.Gln2314His) c.7110G>T (p.Gln2370His) | |
| 16 | g.89279303C= | CA2241586626 | ANKRD11 | c.7239G= (p.Gln2413=) c.*7042G= (n.*7042G=) c.745-4112G= (n.745-4112G=) c.152-4112G= n.414G= c.7137G= (p.Gln2379=) c.6942G= (p.Gln2314=) c.7110G= (p.Gln2370=) | |
| 16 | g.89279303C>G | CA397148816 | ANKRD11 | c.7239G>C (p.Gln2413His) c.*7042G>C (n.*7042G>C) c.745-4112G>C (n.745-4112G>C) c.152-4112G>C n.414G>C c.7137G>C (p.Gln2379His) c.6942G>C (p.Gln2314His) c.7110G>C (p.Gln2370His) | gnomAD v4 |
| 16 | g.89279303C>T | CA8241269 | ANKRD11 | c.7239G>A (p.Gln2413=) c.*7042G>A (n.*7042G>A) c.745-4112G>A (n.745-4112G>A) c.152-4112G>A n.414G>A c.7137G>A (p.Gln2379=) c.6942G>A (p.Gln2314=) c.7110G>A (p.Gln2370=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89279304T>A | CA397148822 | ANKRD11 | c.7238A>T (p.Gln2413Leu) c.*7041A>T (n.*7041A>T) c.745-4113A>T (n.745-4113A>T) c.152-4113A>T n.413A>T c.7136A>T (p.Gln2379Leu) c.6941A>T (p.Gln2314Leu) c.7109A>T (p.Gln2370Leu) | |
| 16 | g.89279304T>C | CA397148819 | ANKRD11 | c.7238A>G (p.Gln2413Arg) c.*7041A>G (n.*7041A>G) c.745-4113A>G (n.745-4113A>G) c.152-4113A>G n.413A>G c.7136A>G (p.Gln2379Arg) c.6941A>G (p.Gln2314Arg) c.7109A>G (p.Gln2370Arg) | |
| 16 | g.89279304T>G | CA397148818 | ANKRD11 | c.7238A>C (p.Gln2413Pro) c.*7041A>C (n.*7041A>C) c.745-4113A>C (n.745-4113A>C) c.152-4113A>C n.413A>C c.7136A>C (p.Gln2379Pro) c.6941A>C (p.Gln2314Pro) c.7109A>C (p.Gln2370Pro) | |
| 16 | g.89279305G>A | CA397148824 | ANKRD11 | c.7237C>T (p.Gln2413Ter) c.*7040C>T (n.*7040C>T) c.745-4114C>T (n.745-4114C>T) c.152-4114C>T n.412C>T c.7135C>T (p.Gln2379Ter) c.6940C>T (p.Gln2314Ter) c.7108C>T (p.Gln2370Ter) | |
| 16 | g.89279305G>C | CA397148825 | ANKRD11 | c.7237C>G (p.Gln2413Glu) c.*7040C>G (n.*7040C>G) c.745-4114C>G (n.745-4114C>G) c.152-4114C>G n.412C>G c.7135C>G (p.Gln2379Glu) c.6940C>G (p.Gln2314Glu) c.7108C>G (p.Gln2370Glu) | |
| 16 | g.89279305G>T | CA397148827 | ANKRD11 | c.7237C>A (p.Gln2413Lys) c.*7040C>A (n.*7040C>A) c.745-4114C>A (n.745-4114C>A) c.152-4114C>A n.412C>A c.7135C>A (p.Gln2379Lys) c.6940C>A (p.Gln2314Lys) c.7108C>A (p.Gln2370Lys) | |
| 16 | g.89279306C>A | CA397148829 | ANKRD11 | c.7236G>T (p.Gln2412His) c.*7039G>T (n.*7039G>T) c.745-4115G>T (n.745-4115G>T) c.152-4115G>T n.411G>T c.7134G>T (p.Gln2378His) c.6939G>T (p.Gln2313His) c.7107G>T (p.Gln2369His) | gnomAD v4 |
| 16 | g.89279306C>G | CA397148830 | ANKRD11 | c.7236G>C (p.Gln2412His) c.*7039G>C (n.*7039G>C) c.745-4115G>C (n.745-4115G>C) c.152-4115G>C n.411G>C c.7134G>C (p.Gln2378His) c.6939G>C (p.Gln2313His) c.7107G>C (p.Gln2369His) | |
| 16 | g.89279306C>T | CA497372446 | ANKRD11 | c.7236G>A (p.Gln2412=) c.*7039G>A (n.*7039G>A) c.745-4115G>A (n.745-4115G>A) c.152-4115G>A n.411G>A c.7134G>A (p.Gln2378=) c.6939G>A (p.Gln2313=) c.7107G>A (p.Gln2369=) | |
| 16 | g.89279307T>A | CA397148832 | ANKRD11 | c.7235A>T (p.Gln2412Leu) c.*7038A>T (n.*7038A>T) c.745-4116A>T (n.745-4116A>T) c.152-4116A>T n.410A>T c.7133A>T (p.Gln2378Leu) c.6938A>T (p.Gln2313Leu) c.7106A>T (p.Gln2369Leu) | |
| 16 | g.89279307T>C | CA397148834 | ANKRD11 | c.7235A>G (p.Gln2412Arg) c.*7038A>G (n.*7038A>G) c.745-4116A>G (n.745-4116A>G) c.152-4116A>G n.410A>G c.7133A>G (p.Gln2378Arg) c.6938A>G (p.Gln2313Arg) c.7106A>G (p.Gln2369Arg) | dbSNP gnomAD v4 |
| 16 | g.89279307T>G | CA397148835 | ANKRD11 | c.7235A>C (p.Gln2412Pro) c.*7038A>C (n.*7038A>C) c.745-4116A>C (n.745-4116A>C) c.152-4116A>C n.410A>C c.7133A>C (p.Gln2378Pro) c.6938A>C (p.Gln2313Pro) c.7106A>C (p.Gln2369Pro) | |
| 16 | g.89279307T= | CA2241586627 | ANKRD11 | c.7235A= (p.Gln2412=) c.*7038A= (n.*7038A=) c.745-4116A= (n.745-4116A=) c.152-4116A= n.410A= c.7133A= (p.Gln2378=) c.6938A= (p.Gln2313=) c.7106A= (p.Gln2369=) | |
| 16 | g.89279308G>A | CA10603561 | ANKRD11 | c.7234C>T (p.Gln2412Ter) c.*7037C>T (n.*7037C>T) c.745-4117C>T (n.745-4117C>T) c.152-4117C>T n.409C>T c.7132C>T (p.Gln2378Ter) c.6937C>T (p.Gln2313Ter) c.7105C>T (p.Gln2369Ter) | ClinVar dbSNP |
| 16 | g.89279308G>C | CA397148838 | ANKRD11 | c.7234C>G (p.Gln2412Glu) c.*7037C>G (n.*7037C>G) c.745-4117C>G (n.745-4117C>G) c.152-4117C>G n.409C>G c.7132C>G (p.Gln2378Glu) c.6937C>G (p.Gln2313Glu) c.7105C>G (p.Gln2369Glu) | |
| 16 | g.89279308G= | CA2241586628 | ANKRD11 | c.7234C= (p.Gln2412=) c.*7037C= (n.*7037C=) c.745-4117C= (n.745-4117C=) c.152-4117C= n.409C= c.7132C= (p.Gln2378=) c.6937C= (p.Gln2313=) c.7105C= (p.Gln2369=) | |
| 16 | g.89279308G>T | CA397148839 | ANKRD11 | c.7234C>A (p.Gln2412Lys) c.*7037C>A (n.*7037C>A) c.745-4117C>A (n.745-4117C>A) c.152-4117C>A n.409C>A c.7132C>A (p.Gln2378Lys) c.6937C>A (p.Gln2313Lys) c.7105C>A (p.Gln2369Lys) | |
| 16 | g.89279309del | CA2695223894 | ANKRD11 | c.7234del (p.Gln2412SerfsTer?) c.*7037del (n.*7037del) c.745-4117del (n.745-4117del) c.152-4117del n.409del c.7132del (p.Gln2378SerfsTer?) c.6937del (p.Gln2313SerfsTer?) c.7105del (p.Gln2369SerfsTer?) | |
| 16 | g.89279309G>A | CA8241271 | ANKRD11 | c.7233C>T (p.Ile2411=) c.*7036C>T (n.*7036C>T) c.745-4118C>T (n.745-4118C>T) c.152-4118C>T n.408C>T c.7131C>T (p.Ile2377=) c.6936C>T (p.Ile2312=) c.7104C>T (p.Ile2368=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89279309G>C | CA397148842 | ANKRD11 | c.7233C>G (p.Ile2411Met) c.*7036C>G (n.*7036C>G) c.745-4118C>G (n.745-4118C>G) c.152-4118C>G n.408C>G c.7131C>G (p.Ile2377Met) c.6936C>G (p.Ile2312Met) c.7104C>G (p.Ile2368Met) | gnomAD v4 |
| 16 | g.89279309G= | CA2241586629 | ANKRD11 | c.7233C= (p.Ile2411=) c.*7036C= (n.*7036C=) c.745-4118C= (n.745-4118C=) c.152-4118C= n.408C= c.7131C= (p.Ile2377=) c.6936C= (p.Ile2312=) c.7104C= (p.Ile2368=) | |
| 16 | g.89279309G>T | CA497372451 | ANKRD11 | c.7233C>A (p.Ile2411=) c.*7036C>A (n.*7036C>A) c.745-4118C>A (n.745-4118C>A) c.152-4118C>A n.408C>A c.7131C>A (p.Ile2377=) c.6936C>A (p.Ile2312=) c.7104C>A (p.Ile2368=) | |
| 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 |