OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.89270815A>C | CA397146293 | ANKRD11 | c.7806+2T>G (n.7806+2T>G) c.*7609+2T>G (n.*7609+2T>G) c.1080+2T>G (n.1080+2T>G) c.487+2T>G c.7704+2T>G (n.7704+2T>G) c.7509+2T>G (n.7509+2T>G) c.7677+2T>G (n.7677+2T>G) | |
| 16 | g.89270815A>G | CA397146295 | ANKRD11 | c.7806+2T>C (n.7806+2T>C) c.*7609+2T>C (n.*7609+2T>C) c.1080+2T>C (n.1080+2T>C) c.487+2T>C c.7704+2T>C (n.7704+2T>C) c.7509+2T>C (n.7509+2T>C) c.7677+2T>C (n.7677+2T>C) | |
| 16 | g.89270815A>T | CA397146296 | ANKRD11 | c.7806+2T>A (n.7806+2T>A) c.*7609+2T>A (n.*7609+2T>A) c.1080+2T>A (n.1080+2T>A) c.487+2T>A c.7704+2T>A (n.7704+2T>A) c.7509+2T>A (n.7509+2T>A) c.7677+2T>A (n.7677+2T>A) | |
| 16 | g.89270816C>A | CA397146297 | ANKRD11 | c.7806+1G>T (n.7806+1G>T) c.*7609+1G>T (n.*7609+1G>T) c.1080+1G>T (n.1080+1G>T) c.487+1G>T c.7704+1G>T (n.7704+1G>T) c.7509+1G>T (n.7509+1G>T) c.7677+1G>T (n.7677+1G>T) | ClinVar dbSNP |
| 16 | g.89270816C>G | CA397146299 | ANKRD11 | c.7806+1G>C (n.7806+1G>C) c.*7609+1G>C (n.*7609+1G>C) c.1080+1G>C (n.1080+1G>C) c.487+1G>C c.7704+1G>C (n.7704+1G>C) c.7509+1G>C (n.7509+1G>C) c.7677+1G>C (n.7677+1G>C) | |
| 16 | g.89270816C>T | CA397146301 | ANKRD11 | c.7806+1G>A (n.7806+1G>A) c.*7609+1G>A (n.*7609+1G>A) c.1080+1G>A (n.1080+1G>A) c.487+1G>A c.7704+1G>A (n.7704+1G>A) c.7509+1G>A (n.7509+1G>A) c.7677+1G>A (n.7677+1G>A) | |
| 16 | g.89270817C>A | CA397146303 | ANKRD11 | c.7806G>T (p.Lys2602Asn) c.*7609G>T (n.*7609G>T) c.1080G>T (p.Lys360Asn) c.487G>T c.7704G>T (p.Lys2568Asn) c.7509G>T (p.Lys2503Asn) c.7677G>T (p.Lys2559Asn) | |
| 16 | g.89270817C>G | CA397146305 | ANKRD11 | c.7806G>C (p.Lys2602Asn) c.*7609G>C (n.*7609G>C) c.1080G>C (p.Lys360Asn) c.487G>C c.7704G>C (p.Lys2568Asn) c.7509G>C (p.Lys2503Asn) c.7677G>C (p.Lys2559Asn) | |
| 16 | g.89270817C>T | CA497166149 | ANKRD11 | c.7806G>A (p.Lys2602=) c.*7609G>A (n.*7609G>A) c.1080G>A (p.Lys360=) c.487G>A c.7704G>A (p.Lys2568=) c.7509G>A (p.Lys2503=) c.7677G>A (p.Lys2559=) | |
| 16 | g.89270818T>A | CA397146310 | ANKRD11 | c.7805A>T (p.Lys2602Met) c.*7608A>T (n.*7608A>T) c.1079A>T (p.Lys360Met) c.486A>T c.7703A>T (p.Lys2568Met) c.7508A>T (p.Lys2503Met) c.7676A>T (p.Lys2559Met) | |
| 16 | g.89270818T>C | CA397146308 | ANKRD11 | c.7805A>G (p.Lys2602Arg) c.*7608A>G (n.*7608A>G) c.1079A>G (p.Lys360Arg) c.486A>G c.7703A>G (p.Lys2568Arg) c.7508A>G (p.Lys2503Arg) c.7676A>G (p.Lys2559Arg) | |
| 16 | g.89270818T>G | CA397146307 | ANKRD11 | c.7805A>C (p.Lys2602Thr) c.*7608A>C (n.*7608A>C) c.1079A>C (p.Lys360Thr) c.486A>C c.7703A>C (p.Lys2568Thr) c.7508A>C (p.Lys2503Thr) c.7676A>C (p.Lys2559Thr) | |
| 16 | g.89270818_89270835delinsTTCATGCGGTCATACTTG | CA2241596174 | ANKRD11 | c.7788_7805delinsCAAGTATGACCGCATGAA (p.Asp2596=) c.*7591_*7608delinsCAAGTATGACCGCATGAA (n.*7591_*7608delinsCAAGTATGACCGCATGAA) c.1062_1079delinsCAAGTATGACCGCATGAA (p.Asp354=) c.469_486delinsCAAGTATGACCGCATGAA c.7686_7703delinsCAAGTATGACCGCATGAA (p.Asp2562=) c.7491_7508delinsCAAGTATGACCGCATGAA (p.Asp2497=) c.7659_7676delinsCAAGTATGACCGCATGAA (p.Asp2553=) | |
| 16 | g.89270819T>A | CA397146312 | ANKRD11 | c.7804A>T (p.Lys2602Ter) c.*7607A>T (n.*7607A>T) c.1078A>T (p.Lys360Ter) c.485A>T c.7702A>T (p.Lys2568Ter) c.7507A>T (p.Lys2503Ter) c.7675A>T (p.Lys2559Ter) | |
| 16 | g.89270819T>C | CA397146314 | ANKRD11 | c.7804A>G (p.Lys2602Glu) c.*7607A>G (n.*7607A>G) c.1078A>G (p.Lys360Glu) c.485A>G c.7702A>G (p.Lys2568Glu) c.7507A>G (p.Lys2503Glu) c.7675A>G (p.Lys2559Glu) | COSMIC |
| 16 | g.89270819T>G | CA397146316 | ANKRD11 | c.7804A>C (p.Lys2602Gln) c.*7607A>C (n.*7607A>C) c.1078A>C (p.Lys360Gln) c.485A>C c.7702A>C (p.Lys2568Gln) c.7507A>C (p.Lys2503Gln) c.7675A>C (p.Lys2559Gln) | |
| 16 | g.89270819T= | CA2241596175 | ANKRD11 | c.7804A= (p.Lys2602=) c.*7607A= (n.*7607A=) c.1078A= (p.Lys360=) c.485A= c.7702A= (p.Lys2568=) c.7507A= (p.Lys2503=) c.7675A= (p.Lys2559=) | |
| 16 | g.89270823_89270839del | CA16620301 | ANKRD11 | c.7788_7804del (p.Asp2596GlufsTer?) c.*7591_*7607del (n.*7591_*7607del) c.1062_1078del (p.Asp354GlufsTer?) c.469_485del c.7686_7702del (p.Asp2562GlufsTer?) c.7491_7507del (p.Asp2497GlufsTer?) c.7659_7675del (p.Asp2553GlufsTer?) c.7788_7804del (p.Asp2596GlufsTer25) | ClinVar dbSNP |
| 16 | g.89270819_89270820insTCATGCGGTCATACTTG | CA919767466 | ANKRD11 | c.7803_7804insCAAGTATGACCGCATGA (p.Lys2602GlnfsTer3) c.*7606_*7607insCAAGTATGACCGCATGA (n.*7606_*7607insCAAGTATGACCGCATGA) c.1077_1078insCAAGTATGACCGCATGA (p.Lys360GlnfsTer3) c.484_485insCAAGTATGACCGCATGA c.7701_7702insCAAGTATGACCGCATGA (p.Lys2568GlnfsTer3) c.7506_7507insCAAGTATGACCGCATGA (p.Lys2503GlnfsTer3) c.7674_7675insCAAGTATGACCGCATGA (p.Lys2559GlnfsTer3) | dbSNP |
| 16 | g.89270820C>A | CA397146318 | ANKRD11 | c.7803G>T (p.Met2601Ile) c.*7606G>T (n.*7606G>T) c.1077G>T (p.Met359Ile) c.484G>T c.7701G>T (p.Met2567Ile) c.7506G>T (p.Met2502Ile) c.7674G>T (p.Met2558Ile) | |
| 16 | g.89270820C>G | CA397146320 | ANKRD11 | c.7803G>C (p.Met2601Ile) c.*7606G>C (n.*7606G>C) c.1077G>C (p.Met359Ile) c.484G>C c.7701G>C (p.Met2567Ile) c.7506G>C (p.Met2502Ile) c.7674G>C (p.Met2558Ile) | |
| 16 | g.89270820C>T | CA397146322 | ANKRD11 | c.7803G>A (p.Met2601Ile) c.*7606G>A (n.*7606G>A) c.1077G>A (p.Met359Ile) c.484G>A c.7701G>A (p.Met2567Ile) c.7506G>A (p.Met2502Ile) c.7674G>A (p.Met2558Ile) | |
| 16 | g.89270821A>C | CA397146324 | ANKRD11 | c.7802T>G (p.Met2601Arg) c.*7605T>G (n.*7605T>G) c.1076T>G (p.Met359Arg) c.483T>G c.7700T>G (p.Met2567Arg) c.7505T>G (p.Met2502Arg) c.7673T>G (p.Met2558Arg) | |
| 16 | g.89270821A>G | CA397146326 | ANKRD11 | c.7802T>C (p.Met2601Thr) c.*7605T>C (n.*7605T>C) c.1076T>C (p.Met359Thr) c.483T>C c.7700T>C (p.Met2567Thr) c.7505T>C (p.Met2502Thr) c.7673T>C (p.Met2558Thr) | |
| 16 | g.89270821A>T | CA397146328 | ANKRD11 | c.7802T>A (p.Met2601Lys) c.*7605T>A (n.*7605T>A) c.1076T>A (p.Met359Lys) c.483T>A c.7700T>A (p.Met2567Lys) c.7505T>A (p.Met2502Lys) c.7673T>A (p.Met2558Lys) | |
| 16 | g.89270822T>A | CA397146330 | ANKRD11 | c.7801A>T (p.Met2601Leu) c.*7604A>T (n.*7604A>T) c.1075A>T (p.Met359Leu) c.482A>T c.7699A>T (p.Met2567Leu) c.7504A>T (p.Met2502Leu) c.7672A>T (p.Met2558Leu) | |
| 16 | g.89270822T>C | CA397146332 | ANKRD11 | c.7801A>G (p.Met2601Val) c.*7604A>G (n.*7604A>G) c.1075A>G (p.Met359Val) c.482A>G c.7699A>G (p.Met2567Val) c.7504A>G (p.Met2502Val) c.7672A>G (p.Met2558Val) | dbSNP gnomAD v4 |
| 16 | g.89270822T>G | CA8241014 | ANKRD11 | c.7801A>C (p.Met2601Leu) c.*7604A>C (n.*7604A>C) c.1075A>C (p.Met359Leu) c.482A>C c.7699A>C (p.Met2567Leu) c.7504A>C (p.Met2502Leu) c.7672A>C (p.Met2558Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89270822T= | CA2241596176 | ANKRD11 | c.7801A= (p.Met2601=) c.*7604A= (n.*7604A=) c.1075A= (p.Met359=) c.482A= c.7699A= (p.Met2567=) c.7504A= (p.Met2502=) c.7672A= (p.Met2558=) | |
| 16 | g.89270823G>A | CA497166164 | ANKRD11 | c.7800C>T (p.Arg2600=) c.*7603C>T (n.*7603C>T) c.1074C>T (p.Arg358=) c.481C>T c.7698C>T (p.Arg2566=) c.7503C>T (p.Arg2501=) c.7671C>T (p.Arg2557=) | dbSNP |
| 16 | g.89270823G>C | CA497166166 | ANKRD11 | c.7800C>G (p.Arg2600=) c.*7603C>G (n.*7603C>G) c.1074C>G (p.Arg358=) c.481C>G c.7698C>G (p.Arg2566=) c.7503C>G (p.Arg2501=) c.7671C>G (p.Arg2557=) | |
| 16 | g.89270823G= | CA2241596177 | ANKRD11 | c.7800C= (p.Arg2600=) c.*7603C= (n.*7603C=) c.1074C= (p.Arg358=) c.481C= c.7698C= (p.Arg2566=) c.7503C= (p.Arg2501=) c.7671C= (p.Arg2557=) | |
| 16 | g.89270823G>T | CA497166167 | ANKRD11 | c.7800C>A (p.Arg2600=) c.*7603C>A (n.*7603C>A) c.1074C>A (p.Arg358=) c.481C>A c.7698C>A (p.Arg2566=) c.7503C>A (p.Arg2501=) c.7671C>A (p.Arg2557=) | |
| 16 | g.89270824C>A | CA397146336 | ANKRD11 | c.7799G>T (p.Arg2600Leu) c.*7602G>T (n.*7602G>T) c.1073G>T (p.Arg358Leu) c.480G>T c.7697G>T (p.Arg2566Leu) c.7502G>T (p.Arg2501Leu) c.7670G>T (p.Arg2557Leu) | |
| 16 | g.89270824C= | CA2241596178 | ANKRD11 | c.7799G= (p.Arg2600=) c.*7602G= (n.*7602G=) c.1073G= (p.Arg358=) c.480G= c.7697G= (p.Arg2566=) c.7502G= (p.Arg2501=) c.7670G= (p.Arg2557=) | |
| 16 | g.89270824C>G | CA397146339 | ANKRD11 | c.7799G>C (p.Arg2600Pro) c.*7602G>C (n.*7602G>C) c.1073G>C (p.Arg358Pro) c.480G>C c.7697G>C (p.Arg2566Pro) c.7502G>C (p.Arg2501Pro) c.7670G>C (p.Arg2557Pro) | |
| 16 | g.89270824C>T | CA397146335 | ANKRD11 | c.7799G>A (p.Arg2600His) c.*7602G>A (n.*7602G>A) c.1073G>A (p.Arg358His) c.480G>A c.7697G>A (p.Arg2566His) c.7502G>A (p.Arg2501His) c.7670G>A (p.Arg2557His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89270825G>A | CA397146341 | ANKRD11 | c.7798C>T (p.Arg2600Cys) c.*7601C>T (n.*7601C>T) c.1072C>T (p.Arg358Cys) c.479C>T c.7696C>T (p.Arg2566Cys) c.7501C>T (p.Arg2501Cys) c.7669C>T (p.Arg2557Cys) | gnomAD v4 |
| 16 | g.89270825G>C | CA397146343 | ANKRD11 | c.7798C>G (p.Arg2600Gly) c.*7601C>G (n.*7601C>G) c.1072C>G (p.Arg358Gly) c.479C>G c.7696C>G (p.Arg2566Gly) c.7501C>G (p.Arg2501Gly) c.7669C>G (p.Arg2557Gly) | |
| 16 | g.89270825G>T | CA397146344 | ANKRD11 | c.7798C>A (p.Arg2600Ser) c.*7601C>A (n.*7601C>A) c.1072C>A (p.Arg358Ser) c.479C>A c.7696C>A (p.Arg2566Ser) c.7501C>A (p.Arg2501Ser) c.7669C>A (p.Arg2557Ser) | |
| 16 | g.89270826G>A | CA497166175 | ANKRD11 | c.7797C>T (p.Asp2599=) c.*7600C>T (n.*7600C>T) c.1071C>T (p.Asp357=) c.478C>T c.7695C>T (p.Asp2565=) c.7500C>T (p.Asp2500=) c.7668C>T (p.Asp2556=) | |
| 16 | g.89270826G>C | CA397146347 | ANKRD11 | c.7797C>G (p.Asp2599Glu) c.*7600C>G (n.*7600C>G) c.1071C>G (p.Asp357Glu) c.478C>G c.7695C>G (p.Asp2565Glu) c.7500C>G (p.Asp2500Glu) c.7668C>G (p.Asp2556Glu) | |
| 16 | g.89270826G>T | CA397146349 | ANKRD11 | c.7797C>A (p.Asp2599Glu) c.*7600C>A (n.*7600C>A) c.1071C>A (p.Asp357Glu) c.478C>A c.7695C>A (p.Asp2565Glu) c.7500C>A (p.Asp2500Glu) c.7668C>A (p.Asp2556Glu) | gnomAD v4 |
| 16 | g.89270827T>A | CA397146354 | ANKRD11 | c.7796A>T (p.Asp2599Val) c.*7599A>T (n.*7599A>T) c.1070A>T (p.Asp357Val) c.477A>T c.7694A>T (p.Asp2565Val) c.7499A>T (p.Asp2500Val) c.7667A>T (p.Asp2556Val) | |
| 16 | g.89270827T>C | CA397146351 | ANKRD11 | c.7796A>G (p.Asp2599Gly) c.*7599A>G (n.*7599A>G) c.1070A>G (p.Asp357Gly) c.477A>G c.7694A>G (p.Asp2565Gly) c.7499A>G (p.Asp2500Gly) c.7667A>G (p.Asp2556Gly) | |
| 16 | g.89270827T>G | CA397146353 | ANKRD11 | c.7796A>C (p.Asp2599Ala) c.*7599A>C (n.*7599A>C) c.1070A>C (p.Asp357Ala) c.477A>C c.7694A>C (p.Asp2565Ala) c.7499A>C (p.Asp2500Ala) c.7667A>C (p.Asp2556Ala) | |
| 16 | g.89270828C>A | CA397146357 | ANKRD11 | c.7795G>T (p.Asp2599Tyr) c.*7598G>T (n.*7598G>T) c.1069G>T (p.Asp357Tyr) c.476G>T c.7693G>T (p.Asp2565Tyr) c.7498G>T (p.Asp2500Tyr) c.7666G>T (p.Asp2556Tyr) | |
| 16 | g.89270828C= | CA2241596179 | ANKRD11 | c.7795G= (p.Asp2599=) c.*7598G= (n.*7598G=) c.1069G= (p.Asp357=) c.476G= c.7693G= (p.Asp2565=) c.7498G= (p.Asp2500=) c.7666G= (p.Asp2556=) | |
| 16 | g.89270828C>G | CA397146359 | ANKRD11 | c.7795G>C (p.Asp2599His) c.*7598G>C (n.*7598G>C) c.1069G>C (p.Asp357His) c.476G>C c.7693G>C (p.Asp2565His) c.7498G>C (p.Asp2500His) c.7666G>C (p.Asp2556His) | |
| 16 | g.89270828C>T | CA397146361 | ANKRD11 | c.7795G>A (p.Asp2599Asn) c.*7598G>A (n.*7598G>A) c.1069G>A (p.Asp357Asn) c.476G>A c.7693G>A (p.Asp2565Asn) c.7498G>A (p.Asp2500Asn) c.7666G>A (p.Asp2556Asn) | dbSNP gnomAD v2 |
| 16 | g.89270829A>C | CA397146363 | ANKRD11 | c.7794T>G (p.Tyr2598Ter) c.*7597T>G (n.*7597T>G) c.1068T>G (p.Tyr356Ter) c.475T>G c.7692T>G (p.Tyr2564Ter) c.7497T>G (p.Tyr2499Ter) c.7665T>G (p.Tyr2555Ter) | |
| 16 | g.89270829A>G | CA497166185 | ANKRD11 | c.7794T>C (p.Tyr2598=) c.*7597T>C (n.*7597T>C) c.1068T>C (p.Tyr356=) c.475T>C c.7692T>C (p.Tyr2564=) c.7497T>C (p.Tyr2499=) c.7665T>C (p.Tyr2555=) | gnomAD v4 |
| 16 | g.89270829A>T | CA397146364 | ANKRD11 | c.7794T>A (p.Tyr2598Ter) c.*7597T>A (n.*7597T>A) c.1068T>A (p.Tyr356Ter) c.475T>A c.7692T>A (p.Tyr2564Ter) c.7497T>A (p.Tyr2499Ter) c.7665T>A (p.Tyr2555Ter) | |
| 16 | g.89270830T>A | CA397146366 | ANKRD11 | c.7793A>T (p.Tyr2598Phe) c.*7596A>T (n.*7596A>T) c.1067A>T (p.Tyr356Phe) c.474A>T c.7691A>T (p.Tyr2564Phe) c.7496A>T (p.Tyr2499Phe) c.7664A>T (p.Tyr2555Phe) | |
| 16 | g.89270830T>C | CA397146370 | ANKRD11 | c.7793A>G (p.Tyr2598Cys) c.*7596A>G (n.*7596A>G) c.1067A>G (p.Tyr356Cys) c.474A>G c.7691A>G (p.Tyr2564Cys) c.7496A>G (p.Tyr2499Cys) c.7664A>G (p.Tyr2555Cys) | |
| 16 | g.89270830T>G | CA397146368 | ANKRD11 | c.7793A>C (p.Tyr2598Ser) c.*7596A>C (n.*7596A>C) c.1067A>C (p.Tyr356Ser) c.474A>C c.7691A>C (p.Tyr2564Ser) c.7496A>C (p.Tyr2499Ser) c.7664A>C (p.Tyr2555Ser) | |
| 16 | g.89270831A>C | CA397146373 | ANKRD11 | c.7792T>G (p.Tyr2598Asp) c.*7595T>G (n.*7595T>G) c.1066T>G (p.Tyr356Asp) c.473T>G c.7690T>G (p.Tyr2564Asp) c.7495T>G (p.Tyr2499Asp) c.7663T>G (p.Tyr2555Asp) | |
| 16 | g.89270831A>G | CA397146375 | ANKRD11 | c.7792T>C (p.Tyr2598His) c.*7595T>C (n.*7595T>C) c.1066T>C (p.Tyr356His) c.473T>C c.7690T>C (p.Tyr2564His) c.7495T>C (p.Tyr2499His) c.7663T>C (p.Tyr2555His) | |
| 16 | g.89270831A>T | CA397146374 | ANKRD11 | c.7792T>A (p.Tyr2598Asn) c.*7595T>A (n.*7595T>A) c.1066T>A (p.Tyr356Asn) c.473T>A c.7690T>A (p.Tyr2564Asn) c.7495T>A (p.Tyr2499Asn) c.7663T>A (p.Tyr2555Asn) | |
| 16 | g.89270832C>A | CA397146378 | ANKRD11 | c.7791G>T (p.Lys2597Asn) c.*7594G>T (n.*7594G>T) c.1065G>T (p.Lys355Asn) c.472G>T c.7689G>T (p.Lys2563Asn) c.7494G>T (p.Lys2498Asn) c.7662G>T (p.Lys2554Asn) | |
| 16 | g.89270832C>G | CA397146380 | ANKRD11 | c.7791G>C (p.Lys2597Asn) c.*7594G>C (n.*7594G>C) c.1065G>C (p.Lys355Asn) c.472G>C c.7689G>C (p.Lys2563Asn) c.7494G>C (p.Lys2498Asn) c.7662G>C (p.Lys2554Asn) | |
| 16 | g.89270832C>T | CA497166194 | ANKRD11 | c.7791G>A (p.Lys2597=) c.*7594G>A (n.*7594G>A) c.1065G>A (p.Lys355=) c.472G>A c.7689G>A (p.Lys2563=) c.7494G>A (p.Lys2498=) c.7662G>A (p.Lys2554=) | |
| 16 | g.89270833T>A | CA397146383 | ANKRD11 | c.7790A>T (p.Lys2597Met) c.*7593A>T (n.*7593A>T) c.1064A>T (p.Lys355Met) c.471A>T c.7688A>T (p.Lys2563Met) c.7493A>T (p.Lys2498Met) c.7661A>T (p.Lys2554Met) | |
| 16 | g.89270833T>C | CA397146384 | ANKRD11 | c.7790A>G (p.Lys2597Arg) c.*7593A>G (n.*7593A>G) c.1064A>G (p.Lys355Arg) c.471A>G c.7688A>G (p.Lys2563Arg) c.7493A>G (p.Lys2498Arg) c.7661A>G (p.Lys2554Arg) | |
| 16 | g.89270833T>G | CA397146386 | ANKRD11 | c.7790A>C (p.Lys2597Thr) c.*7593A>C (n.*7593A>C) c.1064A>C (p.Lys355Thr) c.471A>C c.7688A>C (p.Lys2563Thr) c.7493A>C (p.Lys2498Thr) c.7661A>C (p.Lys2554Thr) | |
| 16 | g.89270834T>A | CA397146388 | ANKRD11 | c.7789A>T (p.Lys2597Ter) c.*7592A>T (n.*7592A>T) c.1063A>T (p.Lys355Ter) c.470A>T c.7687A>T (p.Lys2563Ter) c.7492A>T (p.Lys2498Ter) c.7660A>T (p.Lys2554Ter) | ClinVar dbSNP |
| 16 | g.89270834T>C | CA397146390 | ANKRD11 | c.7789A>G (p.Lys2597Glu) c.*7592A>G (n.*7592A>G) c.1063A>G (p.Lys355Glu) c.470A>G c.7687A>G (p.Lys2563Glu) c.7492A>G (p.Lys2498Glu) c.7660A>G (p.Lys2554Glu) | |
| 16 | g.89270834T>G | CA397146393 | ANKRD11 | c.7789A>C (p.Lys2597Gln) c.*7592A>C (n.*7592A>C) c.1063A>C (p.Lys355Gln) c.470A>C c.7687A>C (p.Lys2563Gln) c.7492A>C (p.Lys2498Gln) c.7660A>C (p.Lys2554Gln) | |
| 16 | g.89270834T= | CA2241596180 | ANKRD11 | c.7789A= (p.Lys2597=) c.*7592A= (n.*7592A=) c.1063A= (p.Lys355=) c.470A= c.7687A= (p.Lys2563=) c.7492A= (p.Lys2498=) c.7660A= (p.Lys2554=) | |
| 16 | g.89270835G>A | CA497166199 | ANKRD11 | c.7788C>T (p.Asp2596=) c.*7591C>T (n.*7591C>T) c.1062C>T (p.Asp354=) c.469C>T c.7686C>T (p.Asp2562=) c.7491C>T (p.Asp2497=) c.7659C>T (p.Asp2553=) | gnomAD v4 |
| 16 | g.89270835G>C | CA397146394 | ANKRD11 | c.7788C>G (p.Asp2596Glu) c.*7591C>G (n.*7591C>G) c.1062C>G (p.Asp354Glu) c.469C>G c.7686C>G (p.Asp2562Glu) c.7491C>G (p.Asp2497Glu) c.7659C>G (p.Asp2553Glu) | |
| 16 | g.89270835G>T | CA397146395 | ANKRD11 | c.7788C>A (p.Asp2596Glu) c.*7591C>A (n.*7591C>A) c.1062C>A (p.Asp354Glu) c.469C>A c.7686C>A (p.Asp2562Glu) c.7491C>A (p.Asp2497Glu) c.7659C>A (p.Asp2553Glu) | |
| 16 | g.89270836T>A | CA397146398 | ANKRD11 | c.7787A>T (p.Asp2596Val) c.*7590A>T (n.*7590A>T) c.1061A>T (p.Asp354Val) c.468A>T c.7685A>T (p.Asp2562Val) c.7490A>T (p.Asp2497Val) c.7658A>T (p.Asp2553Val) | |
| 16 | g.89270836T>C | CA397146400 | ANKRD11 | c.7787A>G (p.Asp2596Gly) c.*7590A>G (n.*7590A>G) c.1061A>G (p.Asp354Gly) c.468A>G c.7685A>G (p.Asp2562Gly) c.7490A>G (p.Asp2497Gly) c.7658A>G (p.Asp2553Gly) | |
| 16 | g.89270836T>G | CA397146402 | ANKRD11 | c.7787A>C (p.Asp2596Ala) c.*7590A>C (n.*7590A>C) c.1061A>C (p.Asp354Ala) c.468A>C c.7685A>C (p.Asp2562Ala) c.7490A>C (p.Asp2497Ala) c.7658A>C (p.Asp2553Ala) | |
| 16 | g.89270837C>A | CA397146408 | ANKRD11 | c.7786G>T (p.Asp2596Tyr) c.*7589G>T (n.*7589G>T) c.1060G>T (p.Asp354Tyr) c.467G>T c.7684G>T (p.Asp2562Tyr) c.7489G>T (p.Asp2497Tyr) c.7657G>T (p.Asp2553Tyr) | COSMIC |
| 16 | g.89270837C= | CA2241596181 | ANKRD11 | c.7786G= (p.Asp2596=) c.*7589G= (n.*7589G=) c.1060G= (p.Asp354=) c.467G= c.7684G= (p.Asp2562=) c.7489G= (p.Asp2497=) c.7657G= (p.Asp2553=) | |
| 16 | g.89270837C>G | CA397146406 | ANKRD11 | c.7786G>C (p.Asp2596His) c.*7589G>C (n.*7589G>C) c.1060G>C (p.Asp354His) c.467G>C c.7684G>C (p.Asp2562His) c.7489G>C (p.Asp2497His) c.7657G>C (p.Asp2553His) | |
| 16 | g.89270837C>T | CA397146404 | ANKRD11 | c.7786G>A (p.Asp2596Asn) c.*7589G>A (n.*7589G>A) c.1060G>A (p.Asp354Asn) c.467G>A c.7684G>A (p.Asp2562Asn) c.7489G>A (p.Asp2497Asn) c.7657G>A (p.Asp2553Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89270838A>C | CA397146409 | ANKRD11 | c.7785T>G (p.Asp2595Glu) c.*7588T>G (n.*7588T>G) c.1059T>G (p.Asp353Glu) c.466T>G c.7683T>G (p.Asp2561Glu) c.7488T>G (p.Asp2496Glu) c.7656T>G (p.Asp2552Glu) | |
| 16 | g.89270838A>G | CA497166209 | ANKRD11 | c.7785T>C (p.Asp2595=) c.*7588T>C (n.*7588T>C) c.1059T>C (p.Asp353=) c.466T>C c.7683T>C (p.Asp2561=) c.7488T>C (p.Asp2496=) c.7656T>C (p.Asp2552=) | |
| 16 | g.89270838A>T | CA397146411 | ANKRD11 | c.7785T>A (p.Asp2595Glu) c.*7588T>A (n.*7588T>A) c.1059T>A (p.Asp353Glu) c.466T>A c.7683T>A (p.Asp2561Glu) c.7488T>A (p.Asp2496Glu) c.7656T>A (p.Asp2552Glu) | |
| 16 | g.89270839T>A | CA397146412 | ANKRD11 | c.7784A>T (p.Asp2595Val) c.*7587A>T (n.*7587A>T) c.1058A>T (p.Asp353Val) c.465A>T c.7682A>T (p.Asp2561Val) c.7487A>T (p.Asp2496Val) c.7655A>T (p.Asp2552Val) | |
| 16 | g.89270839T>C | CA397146415 | ANKRD11 | c.7784A>G (p.Asp2595Gly) c.*7587A>G (n.*7587A>G) c.1058A>G (p.Asp353Gly) c.465A>G c.7682A>G (p.Asp2561Gly) c.7487A>G (p.Asp2496Gly) c.7655A>G (p.Asp2552Gly) | |
| 16 | g.89270839T>G | CA397146417 | ANKRD11 | c.7784A>C (p.Asp2595Ala) c.*7587A>C (n.*7587A>C) c.1058A>C (p.Asp353Ala) c.465A>C c.7682A>C (p.Asp2561Ala) c.7487A>C (p.Asp2496Ala) c.7655A>C (p.Asp2552Ala) | |
| 16 | g.89270840C>A | CA397146419 | ANKRD11 | c.7783G>T (p.Asp2595Tyr) c.*7586G>T (n.*7586G>T) c.1057G>T (p.Asp353Tyr) c.464G>T c.7681G>T (p.Asp2561Tyr) c.7486G>T (p.Asp2496Tyr) c.7654G>T (p.Asp2552Tyr) | |
| 16 | g.89270840C>G | CA397146421 | ANKRD11 | c.7783G>C (p.Asp2595His) c.*7586G>C (n.*7586G>C) c.1057G>C (p.Asp353His) c.464G>C c.7681G>C (p.Asp2561His) c.7486G>C (p.Asp2496His) c.7654G>C (p.Asp2552His) | |
| 16 | g.89270840C>T | CA397146422 | ANKRD11 | c.7783G>A (p.Asp2595Asn) c.*7586G>A (n.*7586G>A) c.1057G>A (p.Asp353Asn) c.464G>A c.7681G>A (p.Asp2561Asn) c.7486G>A (p.Asp2496Asn) c.7654G>A (p.Asp2552Asn) | |
| 16 | g.89270841C>A | CA497166222 | ANKRD11 | c.7782G>T (p.Val2594=) c.*7585G>T (n.*7585G>T) c.1056G>T (p.Val352=) c.463G>T c.7680G>T (p.Val2560=) c.7485G>T (p.Val2495=) c.7653G>T (p.Val2551=) | |
| 16 | g.89270841C>G | CA497166220 | ANKRD11 | c.7782G>C (p.Val2594=) c.*7585G>C (n.*7585G>C) c.1056G>C (p.Val352=) c.463G>C c.7680G>C (p.Val2560=) c.7485G>C (p.Val2495=) c.7653G>C (p.Val2551=) | |
| 16 | g.89270841C>T | CA497166218 | ANKRD11 | c.7782G>A (p.Val2594=) c.*7585G>A (n.*7585G>A) c.1056G>A (p.Val352=) c.463G>A c.7680G>A (p.Val2560=) c.7485G>A (p.Val2495=) c.7653G>A (p.Val2551=) | |
| 16 | g.89270842A>C | CA397146423 | ANKRD11 | c.7781T>G (p.Val2594Gly) c.*7584T>G (n.*7584T>G) c.1055T>G (p.Val352Gly) c.462T>G c.7679T>G (p.Val2560Gly) c.7484T>G (p.Val2495Gly) c.7652T>G (p.Val2551Gly) | |
| 16 | g.89270842A>G | CA397146425 | ANKRD11 | c.7781T>C (p.Val2594Ala) c.*7584T>C (n.*7584T>C) c.1055T>C (p.Val352Ala) c.462T>C c.7679T>C (p.Val2560Ala) c.7484T>C (p.Val2495Ala) c.7652T>C (p.Val2551Ala) | |
| 16 | g.89270842A>T | CA397146427 | ANKRD11 | c.7781T>A (p.Val2594Glu) c.*7584T>A (n.*7584T>A) c.1055T>A (p.Val352Glu) c.462T>A c.7679T>A (p.Val2560Glu) c.7484T>A (p.Val2495Glu) c.7652T>A (p.Val2551Glu) | |
| 16 | g.89270843C>A | CA397146433 | ANKRD11 | c.7780G>T (p.Val2594Leu) c.*7583G>T (n.*7583G>T) c.1054G>T (p.Val352Leu) c.461G>T c.7678G>T (p.Val2560Leu) c.7483G>T (p.Val2495Leu) c.7651G>T (p.Val2551Leu) | gnomAD v4 |
| 16 | g.89270843C= | CA2241596182 | ANKRD11 | c.7780G= (p.Val2594=) c.*7583G= (n.*7583G=) c.1054G= (p.Val352=) c.461G= c.7678G= (p.Val2560=) c.7483G= (p.Val2495=) c.7651G= (p.Val2551=) | |
| 16 | g.89270843C>G | CA397146431 | ANKRD11 | c.7780G>C (p.Val2594Leu) c.*7583G>C (n.*7583G>C) c.1054G>C (p.Val352Leu) c.461G>C c.7678G>C (p.Val2560Leu) c.7483G>C (p.Val2495Leu) c.7651G>C (p.Val2551Leu) | |
| 16 | g.89270843C>T | CA397146430 | ANKRD11 | c.7780G>A (p.Val2594Met) c.*7583G>A (n.*7583G>A) c.1054G>A (p.Val352Met) c.461G>A c.7678G>A (p.Val2560Met) c.7483G>A (p.Val2495Met) c.7651G>A (p.Val2551Met) | ClinVar dbSNP COSMIC |
| 16 | g.89270844G>A | CA8241015 | ANKRD11 | c.7779C>T (p.Asp2593=) c.*7582C>T (n.*7582C>T) c.1053C>T (p.Asp351=) c.460C>T c.7677C>T (p.Asp2559=) c.7482C>T (p.Asp2494=) c.7650C>T (p.Asp2550=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89270844G>C | CA397146436 | ANKRD11 | c.7779C>G (p.Asp2593Glu) c.*7582C>G (n.*7582C>G) c.1053C>G (p.Asp351Glu) c.460C>G c.7677C>G (p.Asp2559Glu) c.7482C>G (p.Asp2494Glu) c.7650C>G (p.Asp2550Glu) | |
| 16 | g.89270844G= | CA2241596183 | ANKRD11 | c.7779C= (p.Asp2593=) c.*7582C= (n.*7582C=) c.1053C= (p.Asp351=) c.460C= c.7677C= (p.Asp2559=) c.7482C= (p.Asp2494=) c.7650C= (p.Asp2550=) | |
| 16 | g.89270844G>T | CA397146438 | ANKRD11 | c.7779C>A (p.Asp2593Glu) c.*7582C>A (n.*7582C>A) c.1053C>A (p.Asp351Glu) c.460C>A c.7677C>A (p.Asp2559Glu) c.7482C>A (p.Asp2494Glu) c.7650C>A (p.Asp2550Glu) | |
| 16 | g.89270845T>A | CA397146440 | ANKRD11 | c.7778A>T (p.Asp2593Val) c.*7581A>T (n.*7581A>T) c.1052A>T (p.Asp351Val) c.459A>T c.7676A>T (p.Asp2559Val) c.7481A>T (p.Asp2494Val) c.7649A>T (p.Asp2550Val) | |
| 16 | g.89270845T>C | CA397146442 | ANKRD11 | c.7778A>G (p.Asp2593Gly) c.*7581A>G (n.*7581A>G) c.1052A>G (p.Asp351Gly) c.459A>G c.7676A>G (p.Asp2559Gly) c.7481A>G (p.Asp2494Gly) c.7649A>G (p.Asp2550Gly) | |
| 16 | g.89270845T>G | CA397146444 | ANKRD11 | c.7778A>C (p.Asp2593Ala) c.*7581A>C (n.*7581A>C) c.1052A>C (p.Asp351Ala) c.459A>C c.7676A>C (p.Asp2559Ala) c.7481A>C (p.Asp2494Ala) c.7649A>C (p.Asp2550Ala) | |
| 16 | g.89270846C>A | CA397146446 | ANKRD11 | c.7777G>T (p.Asp2593Tyr) c.*7580G>T (n.*7580G>T) c.1051G>T (p.Asp351Tyr) c.458G>T c.7675G>T (p.Asp2559Tyr) c.7480G>T (p.Asp2494Tyr) c.7648G>T (p.Asp2550Tyr) | |
| 16 | g.89270846C= | CA2241596184 | ANKRD11 | c.7777G= (p.Asp2593=) c.*7580G= (n.*7580G=) c.1051G= (p.Asp351=) c.458G= c.7675G= (p.Asp2559=) c.7480G= (p.Asp2494=) c.7648G= (p.Asp2550=) | |
| 16 | g.89270846C>G | CA397146448 | ANKRD11 | c.7777G>C (p.Asp2593His) c.*7580G>C (n.*7580G>C) c.1051G>C (p.Asp351His) c.458G>C c.7675G>C (p.Asp2559His) c.7480G>C (p.Asp2494His) c.7648G>C (p.Asp2550His) | |
| 16 | g.89270846C>T | CA397146450 | ANKRD11 | c.7777G>A (p.Asp2593Asn) c.*7580G>A (n.*7580G>A) c.1051G>A (p.Asp351Asn) c.458G>A c.7675G>A (p.Asp2559Asn) c.7480G>A (p.Asp2494Asn) c.7648G>A (p.Asp2550Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89270847C>A | CA397146453 | ANKRD11 | c.7776G>T (p.Gln2592His) c.*7579G>T (n.*7579G>T) c.1050G>T (p.Gln350His) c.457G>T c.7674G>T (p.Gln2558His) c.7479G>T (p.Gln2493His) c.7647G>T (p.Gln2549His) | |
| 16 | g.89270847C= | CA2241596185 | ANKRD11 | c.7776G= (p.Gln2592=) c.*7579G= (n.*7579G=) c.1050G= (p.Gln350=) c.457G= c.7674G= (p.Gln2558=) c.7479G= (p.Gln2493=) c.7647G= (p.Gln2549=) | |
| 16 | g.89270847C>G | CA397146454 | ANKRD11 | c.7776G>C (p.Gln2592His) c.*7579G>C (n.*7579G>C) c.1050G>C (p.Gln350His) c.457G>C c.7674G>C (p.Gln2558His) c.7479G>C (p.Gln2493His) c.7647G>C (p.Gln2549His) | |
| 16 | g.89270847C>T | CA8241016 | ANKRD11 | c.7776G>A (p.Gln2592=) c.*7579G>A (n.*7579G>A) c.1050G>A (p.Gln350=) c.457G>A c.7674G>A (p.Gln2558=) c.7479G>A (p.Gln2493=) c.7647G>A (p.Gln2549=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89270848T>A | CA397146463 | ANKRD11 | c.7775A>T (p.Gln2592Leu) c.*7578A>T (n.*7578A>T) c.1049A>T (p.Gln350Leu) c.456A>T c.7673A>T (p.Gln2558Leu) c.7478A>T (p.Gln2493Leu) c.7646A>T (p.Gln2549Leu) | |
| 16 | g.89270848T>C | CA397146459 | ANKRD11 | c.7775A>G (p.Gln2592Arg) c.*7578A>G (n.*7578A>G) c.1049A>G (p.Gln350Arg) c.456A>G c.7673A>G (p.Gln2558Arg) c.7478A>G (p.Gln2493Arg) c.7646A>G (p.Gln2549Arg) | |
| 16 | g.89270848T>G | CA397146461 | ANKRD11 | c.7775A>C (p.Gln2592Pro) c.*7578A>C (n.*7578A>C) c.1049A>C (p.Gln350Pro) c.456A>C c.7673A>C (p.Gln2558Pro) c.7478A>C (p.Gln2493Pro) c.7646A>C (p.Gln2549Pro) | |
| 16 | g.89270849G>A | CA397146466 | ANKRD11 | c.7774C>T (p.Gln2592Ter) c.*7577C>T (n.*7577C>T) c.1048C>T (p.Gln350Ter) c.455C>T c.7672C>T (p.Gln2558Ter) c.7477C>T (p.Gln2493Ter) c.7645C>T (p.Gln2549Ter) | |
| 16 | g.89270849G>C | CA397146467 | ANKRD11 | c.7774C>G (p.Gln2592Glu) c.*7577C>G (n.*7577C>G) c.1048C>G (p.Gln350Glu) c.455C>G c.7672C>G (p.Gln2558Glu) c.7477C>G (p.Gln2493Glu) c.7645C>G (p.Gln2549Glu) | |
| 16 | g.89270849G>T | CA397146469 | ANKRD11 | c.7774C>A (p.Gln2592Lys) c.*7577C>A (n.*7577C>A) c.1048C>A (p.Gln350Lys) c.455C>A c.7672C>A (p.Gln2558Lys) c.7477C>A (p.Gln2493Lys) c.7645C>A (p.Gln2549Lys) | |
| 16 | g.89270850G>A | CA8241018 | ANKRD11 | c.7773C>T (p.Leu2591=) c.*7576C>T (n.*7576C>T) c.1047C>T (p.Leu349=) c.454C>T c.7671C>T (p.Leu2557=) c.7476C>T (p.Leu2492=) c.7644C>T (p.Leu2548=) | dbSNP ExAC gnomAD v2 |
| 16 | g.89270850G>C | CA8241017 | ANKRD11 | c.7773C>G (p.Leu2591=) c.*7576C>G (n.*7576C>G) c.1047C>G (p.Leu349=) c.454C>G c.7671C>G (p.Leu2557=) c.7476C>G (p.Leu2492=) c.7644C>G (p.Leu2548=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89270850G= | CA2241596186 | ANKRD11 | c.7773C= (p.Leu2591=) c.*7576C= (n.*7576C=) c.1047C= (p.Leu349=) c.454C= c.7671C= (p.Leu2557=) c.7476C= (p.Leu2492=) c.7644C= (p.Leu2548=) | |
| 16 | g.89270850G>T | CA497166251 | ANKRD11 | c.7773C>A (p.Leu2591=) c.*7576C>A (n.*7576C>A) c.1047C>A (p.Leu349=) c.454C>A c.7671C>A (p.Leu2557=) c.7476C>A (p.Leu2492=) c.7644C>A (p.Leu2548=) | |
| 16 | g.89270851A>C | CA397146473 | ANKRD11 | c.7772T>G (p.Leu2591Arg) c.*7575T>G (n.*7575T>G) c.1046T>G (p.Leu349Arg) c.453T>G c.7670T>G (p.Leu2557Arg) c.7475T>G (p.Leu2492Arg) c.7643T>G (p.Leu2548Arg) | |
| 16 | g.89270851A>G | CA397146475 | ANKRD11 | c.7772T>C (p.Leu2591Pro) c.*7575T>C (n.*7575T>C) c.1046T>C (p.Leu349Pro) c.453T>C c.7670T>C (p.Leu2557Pro) c.7475T>C (p.Leu2492Pro) c.7643T>C (p.Leu2548Pro) | |
| 16 | g.89270851A>T | CA397146477 | ANKRD11 | c.7772T>A (p.Leu2591His) c.*7575T>A (n.*7575T>A) c.1046T>A (p.Leu349His) c.453T>A c.7670T>A (p.Leu2557His) c.7475T>A (p.Leu2492His) c.7643T>A (p.Leu2548His) | |
| 16 | g.89270852G>A | CA397146479 | ANKRD11 | c.7771C>T (p.Leu2591Phe) c.*7574C>T (n.*7574C>T) c.1045C>T (p.Leu349Phe) c.452C>T c.7669C>T (p.Leu2557Phe) c.7474C>T (p.Leu2492Phe) c.7642C>T (p.Leu2548Phe) | |
| 16 | g.89270852G>C | CA397146480 | ANKRD11 | c.7771C>G (p.Leu2591Val) c.*7574C>G (n.*7574C>G) c.1045C>G (p.Leu349Val) c.452C>G c.7669C>G (p.Leu2557Val) c.7474C>G (p.Leu2492Val) c.7642C>G (p.Leu2548Val) | gnomAD v4 |
| 16 | g.89270852G>T | CA397146482 | ANKRD11 | c.7771C>A (p.Leu2591Ile) c.*7574C>A (n.*7574C>A) c.1045C>A (p.Leu349Ile) c.452C>A c.7669C>A (p.Leu2557Ile) c.7474C>A (p.Leu2492Ile) c.7642C>A (p.Leu2548Ile) | |
| 16 | g.89270853C>A | CA397146486 | ANKRD11 | c.7770G>T (p.Trp2590Cys) c.*7573G>T (n.*7573G>T) c.1044G>T (p.Trp348Cys) c.451G>T c.7668G>T (p.Trp2556Cys) c.7473G>T (p.Trp2491Cys) c.7641G>T (p.Trp2547Cys) | |
| 16 | g.89270853C>G | CA397146488 | ANKRD11 | c.7770G>C (p.Trp2590Cys) c.*7573G>C (n.*7573G>C) c.1044G>C (p.Trp348Cys) c.451G>C c.7668G>C (p.Trp2556Cys) c.7473G>C (p.Trp2491Cys) c.7641G>C (p.Trp2547Cys) | gnomAD v4 |
| 16 | g.89270853C>T | CA397146484 | ANKRD11 | c.7770G>A (p.Trp2590Ter) c.*7573G>A (n.*7573G>A) c.1044G>A (p.Trp348Ter) c.451G>A c.7668G>A (p.Trp2556Ter) c.7473G>A (p.Trp2491Ter) c.7641G>A (p.Trp2547Ter) | |
| 16 | g.89270854C>A | CA397146495 | ANKRD11 | c.7769G>T (p.Trp2590Leu) c.*7572G>T (n.*7572G>T) c.1043G>T (p.Trp348Leu) c.450G>T c.7667G>T (p.Trp2556Leu) c.7472G>T (p.Trp2491Leu) c.7640G>T (p.Trp2547Leu) | |
| 16 | g.89270854C>G | CA397146491 | ANKRD11 | c.7769G>C (p.Trp2590Ser) c.*7572G>C (n.*7572G>C) c.1043G>C (p.Trp348Ser) c.450G>C c.7667G>C (p.Trp2556Ser) c.7472G>C (p.Trp2491Ser) c.7640G>C (p.Trp2547Ser) | |
| 16 | g.89270854C>T | CA397146493 | ANKRD11 | c.7769G>A (p.Trp2590Ter) c.*7572G>A (n.*7572G>A) c.1043G>A (p.Trp348Ter) c.450G>A c.7667G>A (p.Trp2556Ter) c.7472G>A (p.Trp2491Ter) c.7640G>A (p.Trp2547Ter) | |
| 16 | g.89270855A>C | CA397146497 | ANKRD11 | c.7768T>G (p.Trp2590Gly) c.*7571T>G (n.*7571T>G) c.1042T>G (p.Trp348Gly) c.449T>G c.7666T>G (p.Trp2556Gly) c.7471T>G (p.Trp2491Gly) c.7639T>G (p.Trp2547Gly) | |
| 16 | g.89270855A>G | CA397146498 | ANKRD11 | c.7768T>C (p.Trp2590Arg) c.*7571T>C (n.*7571T>C) c.1042T>C (p.Trp348Arg) c.449T>C c.7666T>C (p.Trp2556Arg) c.7471T>C (p.Trp2491Arg) c.7639T>C (p.Trp2547Arg) | |
| 16 | g.89270855A>T | CA397146500 | ANKRD11 | c.7768T>A (p.Trp2590Arg) c.*7571T>A (n.*7571T>A) c.1042T>A (p.Trp348Arg) c.449T>A c.7666T>A (p.Trp2556Arg) c.7471T>A (p.Trp2491Arg) c.7639T>A (p.Trp2547Arg) | |
| 16 | g.89270856G>A | CA497166267 | ANKRD11 | c.7767C>T (p.Ser2589=) c.*7570C>T (n.*7570C>T) c.1041C>T (p.Ser347=) c.448C>T c.7665C>T (p.Ser2555=) c.7470C>T (p.Ser2490=) c.7638C>T (p.Ser2546=) | gnomAD v4 |
| 16 | g.89270856G>C | CA497166269 | ANKRD11 | c.7767C>G (p.Ser2589=) c.*7570C>G (n.*7570C>G) c.1041C>G (p.Ser347=) c.448C>G c.7665C>G (p.Ser2555=) c.7470C>G (p.Ser2490=) c.7638C>G (p.Ser2546=) | gnomAD v4 |
| 16 | g.89270856G= | CA2241596187 | ANKRD11 | c.7767C= (p.Ser2589=) c.*7570C= (n.*7570C=) c.1041C= (p.Ser347=) c.448C= c.7665C= (p.Ser2555=) c.7470C= (p.Ser2490=) c.7638C= (p.Ser2546=) | |
| 16 | g.89270856G>T | CA497166271 | ANKRD11 | c.7767C>A (p.Ser2589=) c.*7570C>A (n.*7570C>A) c.1041C>A (p.Ser347=) c.448C>A c.7665C>A (p.Ser2555=) c.7470C>A (p.Ser2490=) c.7638C>A (p.Ser2546=) | dbSNP |
| 16 | g.89270857G>A | CA397146503 | ANKRD11 | c.7766C>T (p.Ser2589Phe) c.*7569C>T (n.*7569C>T) c.1040C>T (p.Ser347Phe) c.447C>T c.7664C>T (p.Ser2555Phe) c.7469C>T (p.Ser2490Phe) c.7637C>T (p.Ser2546Phe) | |
| 16 | g.89270857G>C | CA397146504 | ANKRD11 | c.7766C>G (p.Ser2589Cys) c.*7569C>G (n.*7569C>G) c.1040C>G (p.Ser347Cys) c.447C>G c.7664C>G (p.Ser2555Cys) c.7469C>G (p.Ser2490Cys) c.7637C>G (p.Ser2546Cys) | |
| 16 | g.89270857G>T | CA397146505 | ANKRD11 | c.7766C>A (p.Ser2589Tyr) c.*7569C>A (n.*7569C>A) c.1040C>A (p.Ser347Tyr) c.447C>A c.7664C>A (p.Ser2555Tyr) c.7469C>A (p.Ser2490Tyr) c.7637C>A (p.Ser2546Tyr) | |
| 16 | g.89270858A>C | CA397146508 | ANKRD11 | c.7765T>G (p.Ser2589Ala) c.*7568T>G (n.*7568T>G) c.1039T>G (p.Ser347Ala) c.446T>G c.7663T>G (p.Ser2555Ala) c.7468T>G (p.Ser2490Ala) c.7636T>G (p.Ser2546Ala) | |
| 16 | g.89270858A>G | CA397146510 | ANKRD11 | c.7765T>C (p.Ser2589Pro) c.*7568T>C (n.*7568T>C) c.1039T>C (p.Ser347Pro) c.446T>C c.7663T>C (p.Ser2555Pro) c.7468T>C (p.Ser2490Pro) c.7636T>C (p.Ser2546Pro) | ClinVar dbSNP |
| 16 | g.89270858A>T | CA397146512 | ANKRD11 | c.7765T>A (p.Ser2589Thr) c.*7568T>A (n.*7568T>A) c.1039T>A (p.Ser347Thr) c.446T>A c.7663T>A (p.Ser2555Thr) c.7468T>A (p.Ser2490Thr) c.7636T>A (p.Ser2546Thr) | |
| 16 | g.89270859G>A | CA497166279 | ANKRD11 | c.7764C>T (p.Ile2588=) c.*7567C>T (n.*7567C>T) c.1038C>T (p.Ile346=) c.445C>T c.7662C>T (p.Ile2554=) c.7467C>T (p.Ile2489=) c.7635C>T (p.Ile2545=) | gnomAD v4 |
| 16 | g.89270859G>C | CA397146514 | ANKRD11 | c.7764C>G (p.Ile2588Met) c.*7567C>G (n.*7567C>G) c.1038C>G (p.Ile346Met) c.445C>G c.7662C>G (p.Ile2554Met) c.7467C>G (p.Ile2489Met) c.7635C>G (p.Ile2545Met) | |
| 16 | g.89270859G>T | CA497166282 | ANKRD11 | c.7764C>A (p.Ile2588=) c.*7567C>A (n.*7567C>A) c.1038C>A (p.Ile346=) c.445C>A c.7662C>A (p.Ile2554=) c.7467C>A (p.Ile2489=) c.7635C>A (p.Ile2545=) | |
| 16 | g.89270860A>C | CA397146517 | ANKRD11 | c.7763T>G (p.Ile2588Ser) c.*7566T>G (n.*7566T>G) c.1037T>G (p.Ile346Ser) c.444T>G c.7661T>G (p.Ile2554Ser) c.7466T>G (p.Ile2489Ser) c.7634T>G (p.Ile2545Ser) | |
| 16 | g.89270860A>G | CA397146519 | ANKRD11 | c.7763T>C (p.Ile2588Thr) c.*7566T>C (n.*7566T>C) c.1037T>C (p.Ile346Thr) c.444T>C c.7661T>C (p.Ile2554Thr) c.7466T>C (p.Ile2489Thr) c.7634T>C (p.Ile2545Thr) | |
| 16 | g.89270860A>T | CA397146515 | ANKRD11 | c.7763T>A (p.Ile2588Asn) c.*7566T>A (n.*7566T>A) c.1037T>A (p.Ile346Asn) c.444T>A c.7661T>A (p.Ile2554Asn) c.7466T>A (p.Ile2489Asn) c.7634T>A (p.Ile2545Asn) | |
| 16 | g.89270861T>A | CA397146521 | ANKRD11 | c.7762A>T (p.Ile2588Phe) c.*7565A>T (n.*7565A>T) c.1036A>T (p.Ile346Phe) c.443A>T c.7660A>T (p.Ile2554Phe) c.7465A>T (p.Ile2489Phe) c.7633A>T (p.Ile2545Phe) | |
| 16 | g.89270861T>C | CA397146523 | ANKRD11 | c.7762A>G (p.Ile2588Val) c.*7565A>G (n.*7565A>G) c.1036A>G (p.Ile346Val) c.443A>G c.7660A>G (p.Ile2554Val) c.7465A>G (p.Ile2489Val) c.7633A>G (p.Ile2545Val) | dbSNP gnomAD v2 |
| 16 | g.89270861T>G | CA397146525 | ANKRD11 | c.7762A>C (p.Ile2588Leu) c.*7565A>C (n.*7565A>C) c.1036A>C (p.Ile346Leu) c.443A>C c.7660A>C (p.Ile2554Leu) c.7465A>C (p.Ile2489Leu) c.7633A>C (p.Ile2545Leu) | |
| 16 | g.89270861T= | CA2241596188 | ANKRD11 | c.7762A= (p.Ile2588=) c.*7565A= (n.*7565A=) c.1036A= (p.Ile346=) c.443A= c.7660A= (p.Ile2554=) c.7465A= (p.Ile2489=) c.7633A= (p.Ile2545=) | |
| 16 | g.89270862G>A | CA497166289 | ANKRD11 | c.7761C>T (p.Phe2587=) c.*7564C>T (n.*7564C>T) c.1035C>T (p.Phe345=) c.442C>T c.7659C>T (p.Phe2553=) c.7464C>T (p.Phe2488=) c.7632C>T (p.Phe2544=) | |
| 16 | g.89270862G>C | CA397146527 | ANKRD11 | c.7761C>G (p.Phe2587Leu) c.*7564C>G (n.*7564C>G) c.1035C>G (p.Phe345Leu) c.442C>G c.7659C>G (p.Phe2553Leu) c.7464C>G (p.Phe2488Leu) c.7632C>G (p.Phe2544Leu) | gnomAD v4 |
| 16 | g.89270862G>T | CA397146528 | ANKRD11 | c.7761C>A (p.Phe2587Leu) c.*7564C>A (n.*7564C>A) c.1035C>A (p.Phe345Leu) c.442C>A c.7659C>A (p.Phe2553Leu) c.7464C>A (p.Phe2488Leu) c.7632C>A (p.Phe2544Leu) | |
| 16 | g.89270863A>C | CA397146535 | ANKRD11 | c.7760T>G (p.Phe2587Cys) c.*7563T>G (n.*7563T>G) c.1034T>G (p.Phe345Cys) c.441T>G c.7658T>G (p.Phe2553Cys) c.7463T>G (p.Phe2488Cys) c.7631T>G (p.Phe2544Cys) | |
| 16 | g.89270863A>G | CA397146531 | ANKRD11 | c.7760T>C (p.Phe2587Ser) c.*7563T>C (n.*7563T>C) c.1034T>C (p.Phe345Ser) c.441T>C c.7658T>C (p.Phe2553Ser) c.7463T>C (p.Phe2488Ser) c.7631T>C (p.Phe2544Ser) | |
| 16 | g.89270863A>T | CA397146533 | ANKRD11 | c.7760T>A (p.Phe2587Tyr) c.*7563T>A (n.*7563T>A) c.1034T>A (p.Phe345Tyr) c.441T>A c.7658T>A (p.Phe2553Tyr) c.7463T>A (p.Phe2488Tyr) c.7631T>A (p.Phe2544Tyr) | |
| 16 | g.89270864A>C | CA397146537 | ANKRD11 | c.7759T>G (p.Phe2587Val) c.*7562T>G (n.*7562T>G) c.1033T>G (p.Phe345Val) c.440T>G c.7657T>G (p.Phe2553Val) c.7462T>G (p.Phe2488Val) c.7630T>G (p.Phe2544Val) | |
| 16 | g.89270864A>G | CA397146539 | ANKRD11 | c.7759T>C (p.Phe2587Leu) c.*7562T>C (n.*7562T>C) c.1033T>C (p.Phe345Leu) c.440T>C c.7657T>C (p.Phe2553Leu) c.7462T>C (p.Phe2488Leu) c.7630T>C (p.Phe2544Leu) | |
| 16 | g.89270864A>T | CA397146541 | ANKRD11 | c.7759T>A (p.Phe2587Ile) c.*7562T>A (n.*7562T>A) c.1033T>A (p.Phe345Ile) c.440T>A c.7657T>A (p.Phe2553Ile) c.7462T>A (p.Phe2488Ile) c.7630T>A (p.Phe2544Ile) | |
| 16 | g.89270864_89270865delinsAC | CA2241596189 | ANKRD11 | c.7758_7759delinsGT (p.Gln2586=) c.*7561_*7562delinsGT (n.*7561_*7562delinsGT) c.1032_1033delinsGT (p.Gln344=) c.439_440delinsGT c.7656_7657delinsGT (p.Gln2552=) c.7461_7462delinsGT (p.Gln2487=) c.7629_7630delinsGT (p.Gln2543=) | |
| 16 | g.89270865del | CA1139664940 | ANKRD11 | c.7758del (p.Gln2586HisfsTer16) c.*7561del (n.*7561del) c.1032del (p.Gln344HisfsTer16) c.439del c.7656del (p.Gln2552HisfsTer16) c.7461del (p.Gln2487HisfsTer16) c.7629del (p.Gln2543HisfsTer16) | ClinVar dbSNP |
| 16 | g.89270865C>A | CA397146543 | ANKRD11 | c.7758G>T (p.Gln2586His) c.*7561G>T (n.*7561G>T) c.1032G>T (p.Gln344His) c.439G>T c.7656G>T (p.Gln2552His) c.7461G>T (p.Gln2487His) c.7629G>T (p.Gln2543His) | gnomAD v4 |
| 16 | g.89270865C>G | CA397146545 | ANKRD11 | c.7758G>C (p.Gln2586His) c.*7561G>C (n.*7561G>C) c.1032G>C (p.Gln344His) c.439G>C c.7656G>C (p.Gln2552His) c.7461G>C (p.Gln2487His) c.7629G>C (p.Gln2543His) | |
| 16 | g.89270865C>T | CA497166304 | ANKRD11 | c.7758G>A (p.Gln2586=) c.*7561G>A (n.*7561G>A) c.1032G>A (p.Gln344=) c.439G>A c.7656G>A (p.Gln2552=) c.7461G>A (p.Gln2487=) c.7629G>A (p.Gln2543=) | |
| 16 | g.89270866T>A | CA397146550 | ANKRD11 | c.7757A>T (p.Gln2586Leu) c.*7560A>T (n.*7560A>T) c.1031A>T (p.Gln344Leu) c.438A>T c.7655A>T (p.Gln2552Leu) c.7460A>T (p.Gln2487Leu) c.7628A>T (p.Gln2543Leu) | |
| 16 | g.89270866T>C | CA397146549 | ANKRD11 | c.7757A>G (p.Gln2586Arg) c.*7560A>G (n.*7560A>G) c.1031A>G (p.Gln344Arg) c.438A>G c.7655A>G (p.Gln2552Arg) c.7460A>G (p.Gln2487Arg) c.7628A>G (p.Gln2543Arg) | |
| 16 | g.89270866T>G | CA397146547 | ANKRD11 | c.7757A>C (p.Gln2586Pro) c.*7560A>C (n.*7560A>C) c.1031A>C (p.Gln344Pro) c.438A>C c.7655A>C (p.Gln2552Pro) c.7460A>C (p.Gln2487Pro) c.7628A>C (p.Gln2543Pro) | |
| 16 | g.89270867G>A | CA397146553 | ANKRD11 | c.7756C>T (p.Gln2586Ter) c.*7559C>T (n.*7559C>T) c.1030C>T (p.Gln344Ter) c.437C>T c.7654C>T (p.Gln2552Ter) c.7459C>T (p.Gln2487Ter) c.7627C>T (p.Gln2543Ter) | |
| 16 | g.89270867G>C | CA397146555 | ANKRD11 | c.7756C>G (p.Gln2586Glu) c.*7559C>G (n.*7559C>G) c.1030C>G (p.Gln344Glu) c.437C>G c.7654C>G (p.Gln2552Glu) c.7459C>G (p.Gln2487Glu) c.7627C>G (p.Gln2543Glu) | |
| 16 | g.89270867G>T | CA397146557 | ANKRD11 | c.7756C>A (p.Gln2586Lys) c.*7559C>A (n.*7559C>A) c.1030C>A (p.Gln344Lys) c.437C>A c.7654C>A (p.Gln2552Lys) c.7459C>A (p.Gln2487Lys) c.7627C>A (p.Gln2543Lys) | |
| 16 | g.89270868G>A | CA497166320 | ANKRD11 | c.7755C>T (p.Arg2585=) c.*7558C>T (n.*7558C>T) c.1029C>T (p.Arg343=) c.436C>T c.7653C>T (p.Arg2551=) c.7458C>T (p.Arg2486=) c.7626C>T (p.Arg2542=) | gnomAD v4 |
| 16 | g.89270868G>C | CA497166323 | ANKRD11 | c.7755C>G (p.Arg2585=) c.*7558C>G (n.*7558C>G) c.1029C>G (p.Arg343=) c.436C>G c.7653C>G (p.Arg2551=) c.7458C>G (p.Arg2486=) c.7626C>G (p.Arg2542=) | gnomAD v4 |
| 16 | g.89270868G>T | CA497166325 | ANKRD11 | c.7755C>A (p.Arg2585=) c.*7558C>A (n.*7558C>A) c.1029C>A (p.Arg343=) c.436C>A c.7653C>A (p.Arg2551=) c.7458C>A (p.Arg2486=) c.7626C>A (p.Arg2542=) | |
| 16 | g.89270869C>A | CA397146559 | ANKRD11 | c.7754G>T (p.Arg2585Leu) c.*7557G>T (n.*7557G>T) c.1028G>T (p.Arg343Leu) c.435G>T c.7652G>T (p.Arg2551Leu) c.7457G>T (p.Arg2486Leu) c.7625G>T (p.Arg2542Leu) | |
| 16 | g.89270869C= | CA2241596190 | ANKRD11 | c.7754G= (p.Arg2585=) c.*7557G= (n.*7557G=) c.1028G= (p.Arg343=) c.435G= c.7652G= (p.Arg2551=) c.7457G= (p.Arg2486=) c.7625G= (p.Arg2542=) | |
| 16 | g.89270869C>G | CA397146561 | ANKRD11 | c.7754G>C (p.Arg2585Pro) c.*7557G>C (n.*7557G>C) c.1028G>C (p.Arg343Pro) c.435G>C c.7652G>C (p.Arg2551Pro) c.7457G>C (p.Arg2486Pro) c.7625G>C (p.Arg2542Pro) | |
| 16 | g.89270869C>T | CA397146563 | ANKRD11 | c.7754G>A (p.Arg2585His) c.*7557G>A (n.*7557G>A) c.1028G>A (p.Arg343His) c.435G>A c.7652G>A (p.Arg2551His) c.7457G>A (p.Arg2486His) c.7625G>A (p.Arg2542His) | ClinVar dbSNP gnomAD v4 COSMIC |
| 16 | g.89270870G>A | CA397146565 | ANKRD11 | c.7753C>T (p.Arg2585Cys) c.*7556C>T (n.*7556C>T) c.1027C>T (p.Arg343Cys) c.434C>T c.7651C>T (p.Arg2551Cys) c.7456C>T (p.Arg2486Cys) c.7624C>T (p.Arg2542Cys) | ClinVar dbSNP |
| 16 | g.89270870G>C | CA397146567 | ANKRD11 | c.7753C>G (p.Arg2585Gly) c.*7556C>G (n.*7556C>G) c.1027C>G (p.Arg343Gly) c.434C>G c.7651C>G (p.Arg2551Gly) c.7456C>G (p.Arg2486Gly) c.7624C>G (p.Arg2542Gly) | |
| 16 | g.89270870G= | CA2241596191 | ANKRD11 | c.7753C= (p.Arg2585=) c.*7556C= (n.*7556C=) c.1027C= (p.Arg343=) c.434C= c.7651C= (p.Arg2551=) c.7456C= (p.Arg2486=) c.7624C= (p.Arg2542=) | |
| 16 | g.89270870G>T | CA397146569 | ANKRD11 | c.7753C>A (p.Arg2585Ser) c.*7556C>A (n.*7556C>A) c.1027C>A (p.Arg343Ser) c.434C>A c.7651C>A (p.Arg2551Ser) c.7456C>A (p.Arg2486Ser) c.7624C>A (p.Arg2542Ser) | |
| 16 | g.89270871G>A | CA497166332 | ANKRD11 | c.7752C>T (p.Ala2584=) c.*7555C>T (n.*7555C>T) c.1026C>T (p.Ala342=) c.433C>T c.7650C>T (p.Ala2550=) c.7455C>T (p.Ala2485=) c.7623C>T (p.Ala2541=) | |
| 16 | g.89270871G>C | CA497166335 | ANKRD11 | c.7752C>G (p.Ala2584=) c.*7555C>G (n.*7555C>G) c.1026C>G (p.Ala342=) c.433C>G c.7650C>G (p.Ala2550=) c.7455C>G (p.Ala2485=) c.7623C>G (p.Ala2541=) | |
| 16 | g.89270871G>T | CA497166338 | ANKRD11 | c.7752C>A (p.Ala2584=) c.*7555C>A (n.*7555C>A) c.1026C>A (p.Ala342=) c.433C>A c.7650C>A (p.Ala2550=) c.7455C>A (p.Ala2485=) c.7623C>A (p.Ala2541=) | |
| 16 | g.89270872G>A | CA397146571 | ANKRD11 | c.7751C>T (p.Ala2584Val) c.*7554C>T (n.*7554C>T) c.1025C>T (p.Ala342Val) c.432C>T c.7649C>T (p.Ala2550Val) c.7454C>T (p.Ala2485Val) c.7622C>T (p.Ala2541Val) | |
| 16 | g.89270872G>C | CA397146573 | ANKRD11 | c.7751C>G (p.Ala2584Gly) c.*7554C>G (n.*7554C>G) c.1025C>G (p.Ala342Gly) c.432C>G c.7649C>G (p.Ala2550Gly) c.7454C>G (p.Ala2485Gly) c.7622C>G (p.Ala2541Gly) | |
| 16 | g.89270872G= | CA2241596192 | ANKRD11 | c.7751C= (p.Ala2584=) c.*7554C= (n.*7554C=) c.1025C= (p.Ala342=) c.432C= c.7649C= (p.Ala2550=) c.7454C= (p.Ala2485=) c.7622C= (p.Ala2541=) | |
| 16 | g.89270872G>T | CA397146575 | ANKRD11 | c.7751C>A (p.Ala2584Asp) c.*7554C>A (n.*7554C>A) c.1025C>A (p.Ala342Asp) c.432C>A c.7649C>A (p.Ala2550Asp) c.7454C>A (p.Ala2485Asp) c.7622C>A (p.Ala2541Asp) | ClinVar dbSNP |
| 16 | g.89270873C>A | CA8241019 | ANKRD11 | c.7750G>T (p.Ala2584Ser) c.*7553G>T (n.*7553G>T) c.1024G>T (p.Ala342Ser) c.431G>T c.7648G>T (p.Ala2550Ser) c.7453G>T (p.Ala2485Ser) c.7621G>T (p.Ala2541Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89270873C= | CA2241596193 | ANKRD11 | c.7750G= (p.Ala2584=) c.*7553G= (n.*7553G=) c.1024G= (p.Ala342=) c.431G= c.7648G= (p.Ala2550=) c.7453G= (p.Ala2485=) c.7621G= (p.Ala2541=) | |
| 16 | g.89270873C>G | CA397146579 | ANKRD11 | c.7750G>C (p.Ala2584Pro) c.*7553G>C (n.*7553G>C) c.1024G>C (p.Ala342Pro) c.431G>C c.7648G>C (p.Ala2550Pro) c.7453G>C (p.Ala2485Pro) c.7621G>C (p.Ala2541Pro) | |
| 16 | g.89270873C>T | CA286504588 | ANKRD11 | c.7750G>A (p.Ala2584Thr) c.*7553G>A (n.*7553G>A) c.1024G>A (p.Ala342Thr) c.431G>A c.7648G>A (p.Ala2550Thr) c.7453G>A (p.Ala2485Thr) c.7621G>A (p.Ala2541Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89270874G>A | CA8241020 | ANKRD11 | c.7749C>T (p.Asn2583=) c.*7552C>T (n.*7552C>T) c.1023C>T (p.Asn341=) c.430C>T c.7647C>T (p.Asn2549=) c.7452C>T (p.Asn2484=) c.7620C>T (p.Asn2540=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89270874G>C | CA397146581 | ANKRD11 | c.7749C>G (p.Asn2583Lys) c.*7552C>G (n.*7552C>G) c.1023C>G (p.Asn341Lys) c.430C>G c.7647C>G (p.Asn2549Lys) c.7452C>G (p.Asn2484Lys) c.7620C>G (p.Asn2540Lys) | |
| 16 | g.89270874G= | CA2241596194 | ANKRD11 | c.7749C= (p.Asn2583=) c.*7552C= (n.*7552C=) c.1023C= (p.Asn341=) c.430C= c.7647C= (p.Asn2549=) c.7452C= (p.Asn2484=) c.7620C= (p.Asn2540=) | |
| 16 | g.89270874G>T | CA397146582 | ANKRD11 | c.7749C>A (p.Asn2583Lys) c.*7552C>A (n.*7552C>A) c.1023C>A (p.Asn341Lys) c.430C>A c.7647C>A (p.Asn2549Lys) c.7452C>A (p.Asn2484Lys) c.7620C>A (p.Asn2540Lys) | |
| 16 | g.89270875T>A | CA397146584 | ANKRD11 | c.7748A>T (p.Asn2583Ile) c.*7551A>T (n.*7551A>T) c.1022A>T (p.Asn341Ile) c.429A>T c.7646A>T (p.Asn2549Ile) c.7451A>T (p.Asn2484Ile) c.7619A>T (p.Asn2540Ile) | |
| 16 | g.89270875T>C | CA8241021 | ANKRD11 | c.7748A>G (p.Asn2583Ser) c.*7551A>G (n.*7551A>G) c.1022A>G (p.Asn341Ser) c.429A>G c.7646A>G (p.Asn2549Ser) c.7451A>G (p.Asn2484Ser) c.7619A>G (p.Asn2540Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89270875T>G | CA397146587 | ANKRD11 | c.7748A>C (p.Asn2583Thr) c.*7551A>C (n.*7551A>C) c.1022A>C (p.Asn341Thr) c.429A>C c.7646A>C (p.Asn2549Thr) c.7451A>C (p.Asn2484Thr) c.7619A>C (p.Asn2540Thr) | |
| 16 | g.89270875T= | CA2241596195 | ANKRD11 | c.7748A= (p.Asn2583=) c.*7551A= (n.*7551A=) c.1022A= (p.Asn341=) c.429A= c.7646A= (p.Asn2549=) c.7451A= (p.Asn2484=) c.7619A= (p.Asn2540=) | |
| 16 | g.89270876T>A | CA397146589 | ANKRD11 | c.7747A>T (p.Asn2583Tyr) c.*7550A>T (n.*7550A>T) c.1021A>T (p.Asn341Tyr) c.428A>T c.7645A>T (p.Asn2549Tyr) c.7450A>T (p.Asn2484Tyr) c.7618A>T (p.Asn2540Tyr) | |
| 16 | g.89270876T>C | CA397146593 | ANKRD11 | c.7747A>G (p.Asn2583Asp) c.*7550A>G (n.*7550A>G) c.1021A>G (p.Asn341Asp) c.428A>G c.7645A>G (p.Asn2549Asp) c.7450A>G (p.Asn2484Asp) c.7618A>G (p.Asn2540Asp) | |
| 16 | g.89270876T>G | CA397146591 | ANKRD11 | c.7747A>C (p.Asn2583His) c.*7550A>C (n.*7550A>C) c.1021A>C (p.Asn341His) c.428A>C c.7645A>C (p.Asn2549His) c.7450A>C (p.Asn2484His) c.7618A>C (p.Asn2540His) | |
| 16 | g.89270877_89270884dup | CA2634940962 | ANKRD11 | c.7740_7747dup (p.Asn2583ThrfsTer22) c.*7543_*7550dup (n.*7543_*7550dup) c.1014_1021dup (p.Asn341ThrfsTer22) c.421_428dup c.7638_7645dup (p.Asn2549ThrfsTer22) c.7443_7450dup (p.Asn2484ThrfsTer22) c.7611_7618dup (p.Asn2540ThrfsTer22) | gnomAD v4 |
| 16 | g.89270877G>A | CA497166360 | ANKRD11 | c.7746C>T (p.Phe2582=) c.*7549C>T (n.*7549C>T) c.1020C>T (p.Phe340=) c.427C>T c.7644C>T (p.Phe2548=) c.7449C>T (p.Phe2483=) c.7617C>T (p.Phe2539=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.89270877G>C | CA397146596 | ANKRD11 | c.7746C>G (p.Phe2582Leu) c.*7549C>G (n.*7549C>G) c.1020C>G (p.Phe340Leu) c.427C>G c.7644C>G (p.Phe2548Leu) c.7449C>G (p.Phe2483Leu) c.7617C>G (p.Phe2539Leu) | |
| 16 | g.89270877G= | CA2241596196 | ANKRD11 | c.7746C= (p.Phe2582=) c.*7549C= (n.*7549C=) c.1020C= (p.Phe340=) c.427C= c.7644C= (p.Phe2548=) c.7449C= (p.Phe2483=) c.7617C= (p.Phe2539=) | |
| 16 | g.89270877G>T | CA397146597 | ANKRD11 | c.7746C>A (p.Phe2582Leu) c.*7549C>A (n.*7549C>A) c.1020C>A (p.Phe340Leu) c.427C>A c.7644C>A (p.Phe2548Leu) c.7449C>A (p.Phe2483Leu) c.7617C>A (p.Phe2539Leu) | |
| 16 | g.89270878A>C | CA397146600 | ANKRD11 | c.7745T>G (p.Phe2582Cys) c.*7548T>G (n.*7548T>G) c.1019T>G (p.Phe340Cys) c.426T>G c.7643T>G (p.Phe2548Cys) c.7448T>G (p.Phe2483Cys) c.7616T>G (p.Phe2539Cys) | |
| 16 | g.89270878A>G | CA397146601 | ANKRD11 | c.7745T>C (p.Phe2582Ser) c.*7548T>C (n.*7548T>C) c.1019T>C (p.Phe340Ser) c.426T>C c.7643T>C (p.Phe2548Ser) c.7448T>C (p.Phe2483Ser) c.7616T>C (p.Phe2539Ser) | |
| 16 | g.89270878A>T | CA397146603 | ANKRD11 | c.7745T>A (p.Phe2582Tyr) c.*7548T>A (n.*7548T>A) c.1019T>A (p.Phe340Tyr) c.426T>A c.7643T>A (p.Phe2548Tyr) c.7448T>A (p.Phe2483Tyr) c.7616T>A (p.Phe2539Tyr) | |
| 16 | g.89270879A>C | CA397146609 | ANKRD11 | c.7744T>G (p.Phe2582Val) c.*7547T>G (n.*7547T>G) c.1018T>G (p.Phe340Val) c.425T>G c.7642T>G (p.Phe2548Val) c.7447T>G (p.Phe2483Val) c.7615T>G (p.Phe2539Val) | |
| 16 | g.89270879A>G | CA397146608 | ANKRD11 | c.7744T>C (p.Phe2582Leu) c.*7547T>C (n.*7547T>C) c.1018T>C (p.Phe340Leu) c.425T>C c.7642T>C (p.Phe2548Leu) c.7447T>C (p.Phe2483Leu) c.7615T>C (p.Phe2539Leu) | |
| 16 | g.89270879A>T | CA397146606 | ANKRD11 | c.7744T>A (p.Phe2582Ile) c.*7547T>A (n.*7547T>A) c.1018T>A (p.Phe340Ile) c.425T>A c.7642T>A (p.Phe2548Ile) c.7447T>A (p.Phe2483Ile) c.7615T>A (p.Phe2539Ile) | |
| 16 | g.89270880A= | CA2241596197 | ANKRD11 | c.7743T= (p.Arg2581=) c.*7546T= (n.*7546T=) c.1017T= (p.Arg339=) c.424T= c.7641T= (p.Arg2547=) c.7446T= (p.Arg2482=) c.7614T= (p.Arg2538=) | |
| 16 | g.89270880A>C | CA497166372 | ANKRD11 | c.7743T>G (p.Arg2581=) c.*7546T>G (n.*7546T>G) c.1017T>G (p.Arg339=) c.424T>G c.7641T>G (p.Arg2547=) c.7446T>G (p.Arg2482=) c.7614T>G (p.Arg2538=) | |
| 16 | g.89270880A>G | CA497166373 | ANKRD11 | c.7743T>C (p.Arg2581=) c.*7546T>C (n.*7546T>C) c.1017T>C (p.Arg339=) c.424T>C c.7641T>C (p.Arg2547=) c.7446T>C (p.Arg2482=) c.7614T>C (p.Arg2538=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89270880A>T | CA497166375 | ANKRD11 | c.7743T>A (p.Arg2581=) c.*7546T>A (n.*7546T>A) c.1017T>A (p.Arg339=) c.424T>A c.7641T>A (p.Arg2547=) c.7446T>A (p.Arg2482=) c.7614T>A (p.Arg2538=) | dbSNP gnomAD v4 |
| 16 | g.89270881C>A | CA397146614 | ANKRD11 | c.7742G>T (p.Arg2581Leu) c.*7545G>T (n.*7545G>T) c.1016G>T (p.Arg339Leu) c.423G>T c.7640G>T (p.Arg2547Leu) c.7445G>T (p.Arg2482Leu) c.7613G>T (p.Arg2538Leu) | |
| 16 | g.89270881C>G | CA397146612 | ANKRD11 | c.7742G>C (p.Arg2581Pro) c.*7545G>C (n.*7545G>C) c.1016G>C (p.Arg339Pro) c.423G>C c.7640G>C (p.Arg2547Pro) c.7445G>C (p.Arg2482Pro) c.7613G>C (p.Arg2538Pro) | |
| 16 | g.89270881C>T | CA397146616 | ANKRD11 | c.7742G>A (p.Arg2581His) c.*7545G>A (n.*7545G>A) c.1016G>A (p.Arg339His) c.423G>A c.7640G>A (p.Arg2547His) c.7445G>A (p.Arg2482His) c.7613G>A (p.Arg2538His) | |
| 16 | g.89270882G>A | CA397146618 | ANKRD11 | c.7741C>T (p.Arg2581Cys) c.*7544C>T (n.*7544C>T) c.1015C>T (p.Arg339Cys) c.422C>T c.7639C>T (p.Arg2547Cys) c.7444C>T (p.Arg2482Cys) c.7612C>T (p.Arg2538Cys) | ClinVar gnomAD v4 |
| 16 | g.89270882G>C | CA397146622 | ANKRD11 | c.7741C>G (p.Arg2581Gly) c.*7544C>G (n.*7544C>G) c.1015C>G (p.Arg339Gly) c.422C>G c.7639C>G (p.Arg2547Gly) c.7444C>G (p.Arg2482Gly) c.7612C>G (p.Arg2538Gly) | |
| 16 | g.89270882G>T | CA397146620 | ANKRD11 | c.7741C>A (p.Arg2581Ser) c.*7544C>A (n.*7544C>A) c.1015C>A (p.Arg339Ser) c.422C>A c.7639C>A (p.Arg2547Ser) c.7444C>A (p.Arg2482Ser) c.7612C>A (p.Arg2538Ser) | |
| 16 | g.89270883G>A | CA497166386 | ANKRD11 | c.7740C>T (p.Asp2580=) c.*7543C>T (n.*7543C>T) c.1014C>T (p.Asp338=) c.421C>T c.7638C>T (p.Asp2546=) c.7443C>T (p.Asp2481=) c.7611C>T (p.Asp2537=) | |
| 16 | g.89270883G>C | CA397146625 | ANKRD11 | c.7740C>G (p.Asp2580Glu) c.*7543C>G (n.*7543C>G) c.1014C>G (p.Asp338Glu) c.421C>G c.7638C>G (p.Asp2546Glu) c.7443C>G (p.Asp2481Glu) c.7611C>G (p.Asp2537Glu) | |
| 16 | g.89270883G>T | CA397146627 | ANKRD11 | c.7740C>A (p.Asp2580Glu) c.*7543C>A (n.*7543C>A) c.1014C>A (p.Asp338Glu) c.421C>A c.7638C>A (p.Asp2546Glu) c.7443C>A (p.Asp2481Glu) c.7611C>A (p.Asp2537Glu) | |
| 16 | g.89270884T>A | CA397146629 | ANKRD11 | c.7739A>T (p.Asp2580Val) c.*7542A>T (n.*7542A>T) c.1013A>T (p.Asp338Val) c.420A>T c.7637A>T (p.Asp2546Val) c.7442A>T (p.Asp2481Val) c.7610A>T (p.Asp2537Val) | |
| 16 | g.89270884T>C | CA397146633 | ANKRD11 | c.7739A>G (p.Asp2580Gly) c.*7542A>G (n.*7542A>G) c.1013A>G (p.Asp338Gly) c.420A>G c.7637A>G (p.Asp2546Gly) c.7442A>G (p.Asp2481Gly) c.7610A>G (p.Asp2537Gly) | |
| 16 | g.89270884T>G | CA397146631 | ANKRD11 | c.7739A>C (p.Asp2580Ala) c.*7542A>C (n.*7542A>C) c.1013A>C (p.Asp338Ala) c.420A>C c.7637A>C (p.Asp2546Ala) c.7442A>C (p.Asp2481Ala) c.7610A>C (p.Asp2537Ala) | |
| 16 | g.89270885C>A | CA397146635 | ANKRD11 | c.7738G>T (p.Asp2580Tyr) c.*7541G>T (n.*7541G>T) c.1012G>T (p.Asp338Tyr) c.419G>T c.7636G>T (p.Asp2546Tyr) c.7441G>T (p.Asp2481Tyr) c.7609G>T (p.Asp2537Tyr) | gnomAD v4 |
| 16 | g.89270885C= | CA2241596198 | ANKRD11 | c.7738G= (p.Asp2580=) c.*7541G= (n.*7541G=) c.1012G= (p.Asp338=) c.419G= c.7636G= (p.Asp2546=) c.7441G= (p.Asp2481=) c.7609G= (p.Asp2537=) | |
| 16 | g.89270885C>G | CA397146637 | ANKRD11 | c.7738G>C (p.Asp2580His) c.*7541G>C (n.*7541G>C) c.1012G>C (p.Asp338His) c.419G>C c.7636G>C (p.Asp2546His) c.7441G>C (p.Asp2481His) c.7609G>C (p.Asp2537His) | |
| 16 | g.89270885C>T | CA397146639 | ANKRD11 | c.7738G>A (p.Asp2580Asn) c.*7541G>A (n.*7541G>A) c.1012G>A (p.Asp338Asn) c.419G>A c.7636G>A (p.Asp2546Asn) c.7441G>A (p.Asp2481Asn) c.7609G>A (p.Asp2537Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.89270886G>A | CA8241022 | ANKRD11 | c.7737C>T (p.Arg2579=) c.*7540C>T (n.*7540C>T) c.1011C>T (p.Arg337=) c.418C>T c.7635C>T (p.Arg2545=) c.7440C>T (p.Arg2480=) c.7608C>T (p.Arg2536=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.89270886G>C | CA8241023 | ANKRD11 | c.7737C>G (p.Arg2579=) c.*7540C>G (n.*7540C>G) c.1011C>G (p.Arg337=) c.418C>G c.7635C>G (p.Arg2545=) c.7440C>G (p.Arg2480=) c.7608C>G (p.Arg2536=) | dbSNP ExAC gnomAD v4 |
| 16 | g.89270886G= | CA2241596199 | ANKRD11 | c.7737C= (p.Arg2579=) c.*7540C= (n.*7540C=) c.1011C= (p.Arg337=) c.418C= c.7635C= (p.Arg2545=) c.7440C= (p.Arg2480=) c.7608C= (p.Arg2536=) | |
| 16 | g.89270886G>T | CA497166399 | ANKRD11 | c.7737C>A (p.Arg2579=) c.*7540C>A (n.*7540C>A) c.1011C>A (p.Arg337=) c.418C>A c.7635C>A (p.Arg2545=) c.7440C>A (p.Arg2480=) c.7608C>A (p.Arg2536=) | |
| 16 | g.89270887C>A | CA397146643 | ANKRD11 | c.7736G>T (p.Arg2579Leu) c.*7539G>T (n.*7539G>T) c.1010G>T (p.Arg337Leu) c.417G>T c.7634G>T (p.Arg2545Leu) c.7439G>T (p.Arg2480Leu) c.7607G>T (p.Arg2536Leu) | |
| 16 | g.89270887C= | CA2241596200 | ANKRD11 | c.7736G= (p.Arg2579=) c.*7539G= (n.*7539G=) c.1010G= (p.Arg337=) c.417G= c.7634G= (p.Arg2545=) c.7439G= (p.Arg2480=) c.7607G= (p.Arg2536=) | |
| 16 | g.89270887C>G | CA397146646 | ANKRD11 | c.7736G>C (p.Arg2579Pro) c.*7539G>C (n.*7539G>C) c.1010G>C (p.Arg337Pro) c.417G>C c.7634G>C (p.Arg2545Pro) c.7439G>C (p.Arg2480Pro) c.7607G>C (p.Arg2536Pro) | |
| 16 | g.89270887C>T | CA397146647 | ANKRD11 | c.7736G>A (p.Arg2579His) c.*7539G>A (n.*7539G>A) c.1010G>A (p.Arg337His) c.417G>A c.7634G>A (p.Arg2545His) c.7439G>A (p.Arg2480His) c.7607G>A (p.Arg2536His) | ClinVar dbSNP COSMIC |
| 16 | g.89270888G>A | CA397146650 | ANKRD11 | c.7735C>T (p.Arg2579Cys) c.*7538C>T (n.*7538C>T) c.1009C>T (p.Arg337Cys) c.416C>T c.7633C>T (p.Arg2545Cys) c.7438C>T (p.Arg2480Cys) c.7606C>T (p.Arg2536Cys) | ClinVar dbSNP COSMIC |
| 16 | g.89270888G>C | CA397146652 | ANKRD11 | c.7735C>G (p.Arg2579Gly) c.*7538C>G (n.*7538C>G) c.1009C>G (p.Arg337Gly) c.416C>G c.7633C>G (p.Arg2545Gly) c.7438C>G (p.Arg2480Gly) c.7606C>G (p.Arg2536Gly) | |
| 16 | g.89270888G= | CA2241596201 | ANKRD11 | c.7735C= (p.Arg2579=) c.*7538C= (n.*7538C=) c.1009C= (p.Arg337=) c.416C= c.7633C= (p.Arg2545=) c.7438C= (p.Arg2480=) c.7606C= (p.Arg2536=) | |
| 16 | g.89270888G>T | CA397146654 | ANKRD11 | c.7735C>A (p.Arg2579Ser) c.*7538C>A (n.*7538C>A) c.1009C>A (p.Arg337Ser) c.416C>A c.7633C>A (p.Arg2545Ser) c.7438C>A (p.Arg2480Ser) c.7606C>A (p.Arg2536Ser) | |
| 16 | g.89270889C>A | CA497166412 | ANKRD11 | c.7734G>T (p.Val2578=) c.*7537G>T (n.*7537G>T) c.1008G>T (p.Val336=) c.415G>T c.7632G>T (p.Val2544=) c.7437G>T (p.Val2479=) c.7605G>T (p.Val2535=) | |
| 16 | g.89270889C>G | CA497166410 | ANKRD11 | c.7734G>C (p.Val2578=) c.*7537G>C (n.*7537G>C) c.1008G>C (p.Val336=) c.415G>C c.7632G>C (p.Val2544=) c.7437G>C (p.Val2479=) c.7605G>C (p.Val2535=) | |
| 16 | g.89270889C>T | CA497166408 | ANKRD11 | c.7734G>A (p.Val2578=) c.*7537G>A (n.*7537G>A) c.1008G>A (p.Val336=) c.415G>A c.7632G>A (p.Val2544=) c.7437G>A (p.Val2479=) c.7605G>A (p.Val2535=) | |
| 16 | g.89270890A>C | CA397146660 | ANKRD11 | c.7733T>G (p.Val2578Gly) c.*7536T>G (n.*7536T>G) c.1007T>G (p.Val336Gly) c.414T>G c.7631T>G (p.Val2544Gly) c.7436T>G (p.Val2479Gly) c.7604T>G (p.Val2535Gly) | |
| 16 | g.89270890A>G | CA397146656 | ANKRD11 | c.7733T>C (p.Val2578Ala) c.*7536T>C (n.*7536T>C) c.1007T>C (p.Val336Ala) c.414T>C c.7631T>C (p.Val2544Ala) c.7436T>C (p.Val2479Ala) c.7604T>C (p.Val2535Ala) | |
| 16 | g.89270890A>T | CA397146658 | ANKRD11 | c.7733T>A (p.Val2578Glu) c.*7536T>A (n.*7536T>A) c.1007T>A (p.Val336Glu) c.414T>A c.7631T>A (p.Val2544Glu) c.7436T>A (p.Val2479Glu) c.7604T>A (p.Val2535Glu) | |
| 16 | g.89270891C>A | CA397146663 | ANKRD11 | c.7732G>T (p.Val2578Leu) c.*7535G>T (n.*7535G>T) c.1006G>T (p.Val336Leu) c.413G>T c.7630G>T (p.Val2544Leu) c.7435G>T (p.Val2479Leu) c.7603G>T (p.Val2535Leu) | gnomAD v4 |
| 16 | g.89270891C>G | CA397146665 | ANKRD11 | c.7732G>C (p.Val2578Leu) c.*7535G>C (n.*7535G>C) c.1006G>C (p.Val336Leu) c.413G>C c.7630G>C (p.Val2544Leu) c.7435G>C (p.Val2479Leu) c.7603G>C (p.Val2535Leu) | |
| 16 | g.89270891C>T | CA397146667 | ANKRD11 | c.7732G>A (p.Val2578Met) c.*7535G>A (n.*7535G>A) c.1006G>A (p.Val336Met) c.413G>A c.7630G>A (p.Val2544Met) c.7435G>A (p.Val2479Met) c.7603G>A (p.Val2535Met) | |
| 16 | g.89270892T>A | CA497166421 | ANKRD11 | c.7731A>T (p.Ser2577=) c.*7534A>T (n.*7534A>T) c.1005A>T (p.Ser335=) c.412A>T c.7629A>T (p.Ser2543=) c.7434A>T (p.Ser2478=) c.7602A>T (p.Ser2534=) | gnomAD v4 |
| 16 | g.89270892T>C | CA497166423 | ANKRD11 | c.7731A>G (p.Ser2577=) c.*7534A>G (n.*7534A>G) c.1005A>G (p.Ser335=) c.412A>G c.7629A>G (p.Ser2543=) c.7434A>G (p.Ser2478=) c.7602A>G (p.Ser2534=) | |
| 16 | g.89270892T>G | CA8241024 | ANKRD11 | c.7731A>C (p.Ser2577=) c.*7534A>C (n.*7534A>C) c.1005A>C (p.Ser335=) c.412A>C c.7629A>C (p.Ser2543=) c.7434A>C (p.Ser2478=) c.7602A>C (p.Ser2534=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89270892T= | CA2241596202 | ANKRD11 | c.7731A= (p.Ser2577=) c.*7534A= (n.*7534A=) c.1005A= (p.Ser335=) c.412A= c.7629A= (p.Ser2543=) c.7434A= (p.Ser2478=) c.7602A= (p.Ser2534=) | |
| 16 | g.89270893G>A | CA397146670 | ANKRD11 | c.7730C>T (p.Ser2577Leu) c.*7533C>T (n.*7533C>T) c.1004C>T (p.Ser335Leu) c.411C>T c.7628C>T (p.Ser2543Leu) c.7433C>T (p.Ser2478Leu) c.7601C>T (p.Ser2534Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89270893G>C | CA397146673 | ANKRD11 | c.7730C>G (p.Ser2577Ter) c.*7533C>G (n.*7533C>G) c.1004C>G (p.Ser335Ter) c.411C>G c.7628C>G (p.Ser2543Ter) c.7433C>G (p.Ser2478Ter) c.7601C>G (p.Ser2534Ter) | |
| 16 | g.89270893G= | CA2241596203 | ANKRD11 | c.7730C= (p.Ser2577=) c.*7533C= (n.*7533C=) c.1004C= (p.Ser335=) c.411C= c.7628C= (p.Ser2543=) c.7433C= (p.Ser2478=) c.7601C= (p.Ser2534=) | |
| 16 | g.89270893G>T | CA397146674 | ANKRD11 | c.7730C>A (p.Ser2577Ter) c.*7533C>A (n.*7533C>A) c.1004C>A (p.Ser335Ter) c.411C>A c.7628C>A (p.Ser2543Ter) c.7433C>A (p.Ser2478Ter) c.7601C>A (p.Ser2534Ter) | |
| 16 | g.89270894A= | CA2241596204 | ANKRD11 | c.7729T= (p.Ser2577=) c.*7532T= (n.*7532T=) c.1003T= (p.Ser335=) c.410T= c.7627T= (p.Ser2543=) c.7432T= (p.Ser2478=) c.7600T= (p.Ser2534=) | |
| 16 | g.89270894A>C | CA397146677 | ANKRD11 | c.7729T>G (p.Ser2577Ala) c.*7532T>G (n.*7532T>G) c.1003T>G (p.Ser335Ala) c.410T>G c.7627T>G (p.Ser2543Ala) c.7432T>G (p.Ser2478Ala) c.7600T>G (p.Ser2534Ala) | dbSNP |
| 16 | g.89270894A>G | CA397146679 | ANKRD11 | c.7729T>C (p.Ser2577Pro) c.*7532T>C (n.*7532T>C) c.1003T>C (p.Ser335Pro) c.410T>C c.7627T>C (p.Ser2543Pro) c.7432T>C (p.Ser2478Pro) c.7600T>C (p.Ser2534Pro) | |
| 16 | g.89270894A>T | CA397146681 | ANKRD11 | c.7729T>A (p.Ser2577Thr) c.*7532T>A (n.*7532T>A) c.1003T>A (p.Ser335Thr) c.410T>A c.7627T>A (p.Ser2543Thr) c.7432T>A (p.Ser2478Thr) c.7600T>A (p.Ser2534Thr) | |
| 16 | g.89270895C>A | CA397146684 | ANKRD11 | c.7728G>T (p.Lys2576Asn) c.*7531G>T (n.*7531G>T) c.1002G>T (p.Lys334Asn) c.409G>T c.7626G>T (p.Lys2542Asn) c.7431G>T (p.Lys2477Asn) c.7599G>T (p.Lys2533Asn) | |
| 16 | g.89270895C= | CA2241596205 | ANKRD11 | c.7728G= (p.Lys2576=) c.*7531G= (n.*7531G=) c.1002G= (p.Lys334=) c.409G= c.7626G= (p.Lys2542=) c.7431G= (p.Lys2477=) c.7599G= (p.Lys2533=) | |
| 16 | g.89270895C>G | CA397146685 | ANKRD11 | c.7728G>C (p.Lys2576Asn) c.*7531G>C (n.*7531G>C) c.1002G>C (p.Lys334Asn) c.409G>C c.7626G>C (p.Lys2542Asn) c.7431G>C (p.Lys2477Asn) c.7599G>C (p.Lys2533Asn) | |
| 16 | g.89270895C>T | CA8241025 | ANKRD11 | c.7728G>A (p.Lys2576=) c.*7531G>A (n.*7531G>A) c.1002G>A (p.Lys334=) c.409G>A c.7626G>A (p.Lys2542=) c.7431G>A (p.Lys2477=) c.7599G>A (p.Lys2533=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89270896T>A | CA397146686 | ANKRD11 | c.7727A>T (p.Lys2576Met) c.*7530A>T (n.*7530A>T) c.1001A>T (p.Lys334Met) c.408A>T c.7625A>T (p.Lys2542Met) c.7430A>T (p.Lys2477Met) c.7598A>T (p.Lys2533Met) | |
| 16 | g.89270896T>C | CA397146687 | ANKRD11 | c.7727A>G (p.Lys2576Arg) c.*7530A>G (n.*7530A>G) c.1001A>G (p.Lys334Arg) c.408A>G c.7625A>G (p.Lys2542Arg) c.7430A>G (p.Lys2477Arg) c.7598A>G (p.Lys2533Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89270896T>G | CA397146688 | ANKRD11 | c.7727A>C (p.Lys2576Thr) c.*7530A>C (n.*7530A>C) c.1001A>C (p.Lys334Thr) c.408A>C c.7625A>C (p.Lys2542Thr) c.7430A>C (p.Lys2477Thr) c.7598A>C (p.Lys2533Thr) | |
| 16 | g.89270896T= | CA2241596206 | ANKRD11 | c.7727A= (p.Lys2576=) c.*7530A= (n.*7530A=) c.1001A= (p.Lys334=) c.408A= c.7625A= (p.Lys2542=) c.7430A= (p.Lys2477=) c.7598A= (p.Lys2533=) | |
| 16 | g.89270897T>A | CA397146689 | ANKRD11 | c.7726A>T (p.Lys2576Ter) c.*7529A>T (n.*7529A>T) c.1000A>T (p.Lys334Ter) c.407A>T c.7624A>T (p.Lys2542Ter) c.7429A>T (p.Lys2477Ter) c.7597A>T (p.Lys2533Ter) | |
| 16 | g.89270897T>C | CA397146690 | ANKRD11 | c.7726A>G (p.Lys2576Glu) c.*7529A>G (n.*7529A>G) c.1000A>G (p.Lys334Glu) c.407A>G c.7624A>G (p.Lys2542Glu) c.7429A>G (p.Lys2477Glu) c.7597A>G (p.Lys2533Glu) | |
| 16 | g.89270897T>G | CA397146691 | ANKRD11 | c.7726A>C (p.Lys2576Gln) c.*7529A>C (n.*7529A>C) c.1000A>C (p.Lys334Gln) c.407A>C c.7624A>C (p.Lys2542Gln) c.7429A>C (p.Lys2477Gln) c.7597A>C (p.Lys2533Gln) | |
| 16 | g.89270898G>A | CA497166441 | ANKRD11 | c.7725C>T (p.Asn2575=) c.*7528C>T (n.*7528C>T) c.999C>T (p.Asn333=) c.406C>T c.7623C>T (p.Asn2541=) c.7428C>T (p.Asn2476=) c.7596C>T (p.Asn2532=) | |
| 16 | g.89270898G>C | CA397146692 | ANKRD11 | c.7725C>G (p.Asn2575Lys) c.*7528C>G (n.*7528C>G) c.999C>G (p.Asn333Lys) c.406C>G c.7623C>G (p.Asn2541Lys) c.7428C>G (p.Asn2476Lys) c.7596C>G (p.Asn2532Lys) | |
| 16 | g.89270898G= | CA2241596207 | ANKRD11 | c.7725C= (p.Asn2575=) c.*7528C= (n.*7528C=) c.999C= (p.Asn333=) c.406C= c.7623C= (p.Asn2541=) c.7428C= (p.Asn2476=) c.7596C= (p.Asn2532=) | |
| 16 | g.89270898G>T | CA397146693 | ANKRD11 | c.7725C>A (p.Asn2575Lys) c.*7528C>A (n.*7528C>A) c.999C>A (p.Asn333Lys) c.406C>A c.7623C>A (p.Asn2541Lys) c.7428C>A (p.Asn2476Lys) c.7596C>A (p.Asn2532Lys) | dbSNP |
| 16 | g.89270899T>A | CA397146694 | ANKRD11 | c.7724A>T (p.Asn2575Ile) c.*7527A>T (n.*7527A>T) c.998A>T (p.Asn333Ile) c.405A>T c.7622A>T (p.Asn2541Ile) c.7427A>T (p.Asn2476Ile) c.7595A>T (p.Asn2532Ile) | |
| 16 | g.89270899T>C | CA397146695 | ANKRD11 | c.7724A>G (p.Asn2575Ser) c.*7527A>G (n.*7527A>G) c.998A>G (p.Asn333Ser) c.405A>G c.7622A>G (p.Asn2541Ser) c.7427A>G (p.Asn2476Ser) c.7595A>G (p.Asn2532Ser) | gnomAD v4 |
| 16 | g.89270899T>G | CA397146696 | ANKRD11 | c.7724A>C (p.Asn2575Thr) c.*7527A>C (n.*7527A>C) c.998A>C (p.Asn333Thr) c.405A>C c.7622A>C (p.Asn2541Thr) c.7427A>C (p.Asn2476Thr) c.7595A>C (p.Asn2532Thr) | |
| 16 | g.89270900T>A | CA397146697 | ANKRD11 | c.7723A>T (p.Asn2575Tyr) c.*7526A>T (n.*7526A>T) c.997A>T (p.Asn333Tyr) c.404A>T c.7621A>T (p.Asn2541Tyr) c.7426A>T (p.Asn2476Tyr) c.7594A>T (p.Asn2532Tyr) | |
| 16 | g.89270900T>C | CA397146698 | ANKRD11 | c.7723A>G (p.Asn2575Asp) c.*7526A>G (n.*7526A>G) c.997A>G (p.Asn333Asp) c.404A>G c.7621A>G (p.Asn2541Asp) c.7426A>G (p.Asn2476Asp) c.7594A>G (p.Asn2532Asp) | |
| 16 | g.89270900T>G | CA397146699 | ANKRD11 | c.7723A>C (p.Asn2575His) c.*7526A>C (n.*7526A>C) c.997A>C (p.Asn333His) c.404A>C c.7621A>C (p.Asn2541His) c.7426A>C (p.Asn2476His) c.7594A>C (p.Asn2532His) | |
| 16 | g.89270901C>A | CA397146700 | ANKRD11 | c.7722G>T (p.Glu2574Asp) c.*7525G>T (n.*7525G>T) c.996G>T (p.Glu332Asp) c.403G>T c.7620G>T (p.Glu2540Asp) c.7425G>T (p.Glu2475Asp) c.7593G>T (p.Glu2531Asp) | |
| 16 | g.89270901C= | CA2241596208 | ANKRD11 | c.7722G= (p.Glu2574=) c.*7525G= (n.*7525G=) c.996G= (p.Glu332=) c.403G= c.7620G= (p.Glu2540=) c.7425G= (p.Glu2475=) c.7593G= (p.Glu2531=) | |
| 16 | g.89270901C>G | CA397146701 | ANKRD11 | c.7722G>C (p.Glu2574Asp) c.*7525G>C (n.*7525G>C) c.996G>C (p.Glu332Asp) c.403G>C c.7620G>C (p.Glu2540Asp) c.7425G>C (p.Glu2475Asp) c.7593G>C (p.Glu2531Asp) | |
| 16 | g.89270901C>T | CA497166454 | ANKRD11 | c.7722G>A (p.Glu2574=) c.*7525G>A (n.*7525G>A) c.996G>A (p.Glu332=) c.403G>A c.7620G>A (p.Glu2540=) c.7425G>A (p.Glu2475=) c.7593G>A (p.Glu2531=) | dbSNP gnomAD v4 |
| 16 | g.89270902T>A | CA397146702 | ANKRD11 | c.7721A>T (p.Glu2574Val) c.*7524A>T (n.*7524A>T) c.995A>T (p.Glu332Val) c.402A>T c.7619A>T (p.Glu2540Val) c.7424A>T (p.Glu2475Val) c.7592A>T (p.Glu2531Val) | |
| 16 | g.89270902T>C | CA397146703 | ANKRD11 | c.7721A>G (p.Glu2574Gly) c.*7524A>G (n.*7524A>G) c.995A>G (p.Glu332Gly) c.402A>G c.7619A>G (p.Glu2540Gly) c.7424A>G (p.Glu2475Gly) c.7592A>G (p.Glu2531Gly) | |
| 16 | g.89270902T>G | CA397146704 | ANKRD11 | c.7721A>C (p.Glu2574Ala) c.*7524A>C (n.*7524A>C) c.995A>C (p.Glu332Ala) c.402A>C c.7619A>C (p.Glu2540Ala) c.7424A>C (p.Glu2475Ala) c.7592A>C (p.Glu2531Ala) | |
| 16 | g.89270903C>A | CA397146705 | ANKRD11 | c.7720G>T (p.Glu2574Ter) c.*7523G>T (n.*7523G>T) c.994G>T (p.Glu332Ter) c.401G>T c.7618G>T (p.Glu2540Ter) c.7423G>T (p.Glu2475Ter) c.7591G>T (p.Glu2531Ter) | |
| 16 | g.89270903C>G | CA397146706 | ANKRD11 | c.7720G>C (p.Glu2574Gln) c.*7523G>C (n.*7523G>C) c.994G>C (p.Glu332Gln) c.401G>C c.7618G>C (p.Glu2540Gln) c.7423G>C (p.Glu2475Gln) c.7591G>C (p.Glu2531Gln) | gnomAD v4 |
| 16 | g.89270903C>T | CA397146707 | ANKRD11 | c.7720G>A (p.Glu2574Lys) c.*7523G>A (n.*7523G>A) c.994G>A (p.Glu332Lys) c.401G>A c.7618G>A (p.Glu2540Lys) c.7423G>A (p.Glu2475Lys) c.7591G>A (p.Glu2531Lys) | |
| 16 | g.89270904G>A | CA8241026 | ANKRD11 | c.7719C>T (p.Asp2573=) c.*7522C>T (n.*7522C>T) c.993C>T (p.Asp331=) c.400C>T c.7617C>T (p.Asp2539=) c.7422C>T (p.Asp2474=) c.7590C>T (p.Asp2530=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89270904G>C | CA397146708 | ANKRD11 | c.7719C>G (p.Asp2573Glu) c.*7522C>G (n.*7522C>G) c.993C>G (p.Asp331Glu) c.400C>G c.7617C>G (p.Asp2539Glu) c.7422C>G (p.Asp2474Glu) c.7590C>G (p.Asp2530Glu) | dbSNP gnomAD v4 |
| 16 | g.89270904G= | CA2241596209 | ANKRD11 | c.7719C= (p.Asp2573=) c.*7522C= (n.*7522C=) c.993C= (p.Asp331=) c.400C= c.7617C= (p.Asp2539=) c.7422C= (p.Asp2474=) c.7590C= (p.Asp2530=) | |
| 16 | g.89270904G>T | CA397146709 | ANKRD11 | c.7719C>A (p.Asp2573Glu) c.*7522C>A (n.*7522C>A) c.993C>A (p.Asp331Glu) c.400C>A c.7617C>A (p.Asp2539Glu) c.7422C>A (p.Asp2474Glu) c.7590C>A (p.Asp2530Glu) | |
| 16 | g.89270905T>A | CA397146710 | ANKRD11 | c.7718A>T (p.Asp2573Val) c.*7521A>T (n.*7521A>T) c.992A>T (p.Asp331Val) c.399A>T c.7616A>T (p.Asp2539Val) c.7421A>T (p.Asp2474Val) c.7589A>T (p.Asp2530Val) | |
| 16 | g.89270905T>C | CA397146711 | ANKRD11 | c.7718A>G (p.Asp2573Gly) c.*7521A>G (n.*7521A>G) c.992A>G (p.Asp331Gly) c.399A>G c.7616A>G (p.Asp2539Gly) c.7421A>G (p.Asp2474Gly) c.7589A>G (p.Asp2530Gly) | |
| 16 | g.89270905T>G | CA397146712 | ANKRD11 | c.7718A>C (p.Asp2573Ala) c.*7521A>C (n.*7521A>C) c.992A>C (p.Asp331Ala) c.399A>C c.7616A>C (p.Asp2539Ala) c.7421A>C (p.Asp2474Ala) c.7589A>C (p.Asp2530Ala) | |
| 16 | g.89270906C>A | CA397146715 | ANKRD11 | c.7717G>T (p.Asp2573Tyr) c.*7520G>T (n.*7520G>T) c.991G>T (p.Asp331Tyr) c.398G>T c.7615G>T (p.Asp2539Tyr) c.7420G>T (p.Asp2474Tyr) c.7588G>T (p.Asp2530Tyr) | |
| 16 | g.89270906C>G | CA397146714 | ANKRD11 | c.7717G>C (p.Asp2573His) c.*7520G>C (n.*7520G>C) c.991G>C (p.Asp331His) c.398G>C c.7615G>C (p.Asp2539His) c.7420G>C (p.Asp2474His) c.7588G>C (p.Asp2530His) | |
| 16 | g.89270906C>T | CA397146713 | ANKRD11 | c.7717G>A (p.Asp2573Asn) c.*7520G>A (n.*7520G>A) c.991G>A (p.Asp331Asn) c.398G>A c.7615G>A (p.Asp2539Asn) c.7420G>A (p.Asp2474Asn) c.7588G>A (p.Asp2530Asn) | COSMIC |
| 16 | g.89270907A>C | CA497166470 | ANKRD11 | c.7716T>G (p.Gly2572=) c.*7519T>G (n.*7519T>G) c.990T>G (p.Gly330=) c.397T>G c.7614T>G (p.Gly2538=) c.7419T>G (p.Gly2473=) c.7587T>G (p.Gly2529=) | |
| 16 | g.89270907A>G | CA497166472 | ANKRD11 | c.7716T>C (p.Gly2572=) c.*7519T>C (n.*7519T>C) c.990T>C (p.Gly330=) c.397T>C c.7614T>C (p.Gly2538=) c.7419T>C (p.Gly2473=) c.7587T>C (p.Gly2529=) | |
| 16 | g.89270907A>T | CA497166474 | ANKRD11 | c.7716T>A (p.Gly2572=) c.*7519T>A (n.*7519T>A) c.990T>A (p.Gly330=) c.397T>A c.7614T>A (p.Gly2538=) c.7419T>A (p.Gly2473=) c.7587T>A (p.Gly2529=) | |
| 16 | g.89270908C>A | CA397146716 | ANKRD11 | c.7715G>T (p.Gly2572Val) c.*7518G>T (n.*7518G>T) c.989G>T (p.Gly330Val) c.396G>T c.7613G>T (p.Gly2538Val) c.7418G>T (p.Gly2473Val) c.7586G>T (p.Gly2529Val) | gnomAD v4 |
| 16 | g.89270908C>G | CA397146718 | ANKRD11 | c.7715G>C (p.Gly2572Ala) c.*7518G>C (n.*7518G>C) c.989G>C (p.Gly330Ala) c.396G>C c.7613G>C (p.Gly2538Ala) c.7418G>C (p.Gly2473Ala) c.7586G>C (p.Gly2529Ala) | |
| 16 | g.89270908C>T | CA397146717 | ANKRD11 | c.7715G>A (p.Gly2572Asp) c.*7518G>A (n.*7518G>A) c.989G>A (p.Gly330Asp) c.396G>A c.7613G>A (p.Gly2538Asp) c.7418G>A (p.Gly2473Asp) c.7586G>A (p.Gly2529Asp) | |
| 16 | g.89270909C>A | CA397146719 | ANKRD11 | c.7714G>T (p.Gly2572Cys) c.*7517G>T (n.*7517G>T) c.988G>T (p.Gly330Cys) c.395G>T c.7612G>T (p.Gly2538Cys) c.7417G>T (p.Gly2473Cys) c.7585G>T (p.Gly2529Cys) | |
| 16 | g.89270909C= | CA2241596210 | ANKRD11 | c.7714G= (p.Gly2572=) c.*7517G= (n.*7517G=) c.988G= (p.Gly330=) c.395G= c.7612G= (p.Gly2538=) c.7417G= (p.Gly2473=) c.7585G= (p.Gly2529=) | |
| 16 | g.89270909C>G | CA397146720 | ANKRD11 | c.7714G>C (p.Gly2572Arg) c.*7517G>C (n.*7517G>C) c.988G>C (p.Gly330Arg) c.395G>C c.7612G>C (p.Gly2538Arg) c.7417G>C (p.Gly2473Arg) c.7585G>C (p.Gly2529Arg) | |
| 16 | g.89270909C>T | CA397146721 | ANKRD11 | c.7714G>A (p.Gly2572Ser) c.*7517G>A (n.*7517G>A) c.988G>A (p.Gly330Ser) c.395G>A c.7612G>A (p.Gly2538Ser) c.7417G>A (p.Gly2473Ser) c.7585G>A (p.Gly2529Ser) | ClinVar dbSNP gnomAD v4 |
| 16 | g.89270910C>A | CA397146722 | ANKRD11 | c.7714-1G>T (n.7714-1G>T) c.*7517-1G>T (n.*7517-1G>T) c.988-1G>T (n.988-1G>T) c.395-1G>T c.7612-1G>T (n.7612-1G>T) c.7417-1G>T (n.7417-1G>T) c.7585-1G>T (n.7585-1G>T) | |
| 16 | g.89270910C>G | CA397146723 | ANKRD11 | c.7714-1G>C (n.7714-1G>C) c.*7517-1G>C (n.*7517-1G>C) c.988-1G>C (n.988-1G>C) c.395-1G>C c.7612-1G>C (n.7612-1G>C) c.7417-1G>C (n.7417-1G>C) c.7585-1G>C (n.7585-1G>C) | ClinVar dbSNP |
| 16 | g.89270910C>T | CA397146724 | ANKRD11 | c.7714-1G>A (n.7714-1G>A) c.*7517-1G>A (n.*7517-1G>A) c.988-1G>A (n.988-1G>A) c.395-1G>A c.7612-1G>A (n.7612-1G>A) c.7417-1G>A (n.7417-1G>A) c.7585-1G>A (n.7585-1G>A) | |
| 16 | g.89270911T>A | CA397146725 | ANKRD11 | c.7714-2A>T (n.7714-2A>T) c.*7517-2A>T (n.*7517-2A>T) c.988-2A>T (n.988-2A>T) c.395-2A>T c.7612-2A>T (n.7612-2A>T) c.7417-2A>T (n.7417-2A>T) c.7585-2A>T (n.7585-2A>T) | |
| 16 | g.89270911T>C | CA10603283 | ANKRD11 | c.7714-2A>G (n.7714-2A>G) c.*7517-2A>G (n.*7517-2A>G) c.988-2A>G (n.988-2A>G) c.395-2A>G c.7612-2A>G (n.7612-2A>G) c.7417-2A>G (n.7417-2A>G) c.7585-2A>G (n.7585-2A>G) | ClinVar dbSNP |
| 16 | g.89270911T>G | CA397146726 | ANKRD11 | c.7714-2A>C (n.7714-2A>C) c.*7517-2A>C (n.*7517-2A>C) c.988-2A>C (n.988-2A>C) c.395-2A>C c.7612-2A>C (n.7612-2A>C) c.7417-2A>C (n.7417-2A>C) c.7585-2A>C (n.7585-2A>C) | |
| 16 | g.89270911T= | CA2241596211 | ANKRD11 | c.7714-2A= (n.7714-2A=) c.*7517-2A= (n.*7517-2A=) c.988-2A= (n.988-2A=) c.395-2A= c.7612-2A= (n.7612-2A=) c.7417-2A= (n.7417-2A=) c.7585-2A= (n.7585-2A=) | |
| 16 | g.89270912G>A | CA8241028 | ANKRD11 | c.7714-3C>T (n.7714-3C>T) c.*7517-3C>T (n.*7517-3C>T) c.988-3C>T (n.988-3C>T) c.395-3C>T c.7612-3C>T (n.7612-3C>T) c.7417-3C>T (n.7417-3C>T) c.7585-3C>T (n.7585-3C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89270912G= | CA2241596212 | ANKRD11 | c.7714-3C= (n.7714-3C=) c.*7517-3C= (n.*7517-3C=) c.988-3C= (n.988-3C=) c.395-3C= c.7612-3C= (n.7612-3C=) c.7417-3C= (n.7417-3C=) c.7585-3C= (n.7585-3C=) | |
| 16 | g.89270912G>T | CA8241027 | ANKRD11 | c.7714-3C>A (n.7714-3C>A) c.*7517-3C>A (n.*7517-3C>A) c.988-3C>A (n.988-3C>A) c.395-3C>A c.7612-3C>A (n.7612-3C>A) c.7417-3C>A (n.7417-3C>A) c.7585-3C>A (n.7585-3C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89270914G>A | CA725694473 | ANKRD11 | c.7714-5C>T (n.7714-5C>T) c.*7517-5C>T (n.*7517-5C>T) c.988-5C>T (n.988-5C>T) c.395-5C>T c.7612-5C>T (n.7612-5C>T) c.7417-5C>T (n.7417-5C>T) c.7585-5C>T (n.7585-5C>T) | dbSNP gnomAD v4 |
| 16 | g.89270914G= | CA2241596213 | ANKRD11 | c.7714-5C= (n.7714-5C=) c.*7517-5C= (n.*7517-5C=) c.988-5C= (n.988-5C=) c.395-5C= c.7612-5C= (n.7612-5C=) c.7417-5C= (n.7417-5C=) c.7585-5C= (n.7585-5C=) | |
| 16 | g.89270915G>A | CA8241029 | ANKRD11 | c.7714-6C>T (n.7714-6C>T) c.*7517-6C>T (n.*7517-6C>T) c.988-6C>T (n.988-6C>T) c.395-6C>T c.7612-6C>T (n.7612-6C>T) c.7417-6C>T (n.7417-6C>T) c.7585-6C>T (n.7585-6C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89270915G= | CA2241596214 | ANKRD11 | c.7714-6C= (n.7714-6C=) c.*7517-6C= (n.*7517-6C=) c.988-6C= (n.988-6C=) c.395-6C= c.7612-6C= (n.7612-6C=) c.7417-6C= (n.7417-6C=) c.7585-6C= (n.7585-6C=) |