Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.89279404_89279434delinsGGGCGTCGTCGTCCTCGGAGCCGCGGGCCTT | CA2241586689 | ANKRD11 | c.7108_7138delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC (p.Lys2370=) c.*6911_*6941delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC (n.*6911_*6941delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC) c.745-4243_745-4213delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC (n.745-4243_745-4213delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC) c.152-4243_152-4213delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC n.283_313delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC c.7006_7036delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC (p.Lys2336=) c.6811_6841delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC (p.Lys2271=) c.6979_7009delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC (p.Lys2327=) | |
16 | g.89279408_89279437del | CA2241586690 | ANKRD11 | c.7108_7137del (p.Lys2370_Ala2379del) c.*6911_*6940del (n.*6911_*6940del) c.745-4243_745-4214del (n.745-4243_745-4214del) c.152-4243_152-4214del n.283_312del c.7006_7035del (p.Lys2336_Ala2345del) c.6811_6840del (p.Lys2271_Ala2280del) c.6979_7008del (p.Lys2327_Ala2336del) | dbSNP |
16 | g.89279407_89279408del | CA980389759 | ANKRD11 | c.7135_7136del (p.Ala2379ProfsTer?) c.*6938_*6939del (n.*6938_*6939del) c.745-4216_745-4215del (n.745-4216_745-4215del) c.152-4216_152-4215del n.310_311del c.7033_7034del (p.Ala2345ProfsTer?) c.6838_6839del (p.Ala2280ProfsTer?) c.7006_7007del (p.Ala2336ProfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89279406_89279409delinsGCGT | CA2241586692 | ANKRD11 | c.7133_7136delinsACGC (p.Asp2378=) c.*6936_*6939delinsACGC (n.*6936_*6939delinsACGC) c.745-4218_745-4215delinsACGC (n.745-4218_745-4215delinsACGC) c.152-4218_152-4215delinsACGC n.308_311delinsACGC c.7031_7034delinsACGC (p.Asp2344=) c.6836_6839delinsACGC (p.Asp2279=) c.7004_7007delinsACGC (p.Asp2335=) | |
16 | g.89279414_89279416dup | CA2808088001 | ANKRD11 | c.7133_7135dup (p.Asp2378_Ala2379insAsp) c.*6936_*6938dup (n.*6936_*6938dup) c.745-4218_745-4216dup (n.745-4218_745-4216dup) c.152-4218_152-4216dup n.308_310dup c.7031_7033dup (p.Asp2344_Ala2345insAsp) c.6836_6838dup (p.Asp2279_Ala2280insAsp) c.7004_7006dup (p.Asp2335_Ala2336insAsp) | |
16 | g.89279414_89279416del | CA8241290 | ANKRD11 | c.7133_7135del (p.Asp2378del) c.*6936_*6938del (n.*6936_*6938del) c.745-4218_745-4216del (n.745-4218_745-4216del) c.152-4218_152-4216del n.308_310del c.7031_7033del (p.Asp2344del) c.6836_6838del (p.Asp2279del) c.7004_7006del (p.Asp2335del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89279408G>A | CA497372637 | ANKRD11 | c.7134C>T (p.Asp2378=) c.*6937C>T (n.*6937C>T) c.745-4217C>T (n.745-4217C>T) c.152-4217C>T n.309C>T c.7032C>T (p.Asp2344=) c.6837C>T (p.Asp2279=) c.7005C>T (p.Asp2335=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.89279408G>C | CA397149249 | ANKRD11 | c.7134C>G (p.Asp2378Glu) c.*6937C>G (n.*6937C>G) c.745-4217C>G (n.745-4217C>G) c.152-4217C>G n.309C>G c.7032C>G (p.Asp2344Glu) c.6837C>G (p.Asp2279Glu) c.7005C>G (p.Asp2335Glu) | |
16 | g.89279408G= | CA2241586695 | ANKRD11 | c.7134C= (p.Asp2378=) c.*6937C= (n.*6937C=) c.745-4217C= (n.745-4217C=) c.152-4217C= n.309C= c.7032C= (p.Asp2344=) c.6837C= (p.Asp2279=) c.7005C= (p.Asp2335=) | |
16 | g.89279408G>T | CA397149251 | ANKRD11 | c.7134C>A (p.Asp2378Glu) c.*6937C>A (n.*6937C>A) c.745-4217C>A (n.745-4217C>A) c.152-4217C>A n.309C>A c.7032C>A (p.Asp2344Glu) c.6837C>A (p.Asp2279Glu) c.7005C>A (p.Asp2335Glu) | |
16 | g.89279409T>A | CA397149254 | ANKRD11 | c.7133A>T (p.Asp2378Val) c.*6936A>T (n.*6936A>T) c.745-4218A>T (n.745-4218A>T) c.152-4218A>T n.308A>T c.7031A>T (p.Asp2344Val) c.6836A>T (p.Asp2279Val) c.7004A>T (p.Asp2335Val) | |
16 | g.89279409T>C | CA397149253 | ANKRD11 | c.7133A>G (p.Asp2378Gly) c.*6936A>G (n.*6936A>G) c.745-4218A>G (n.745-4218A>G) c.152-4218A>G n.308A>G c.7031A>G (p.Asp2344Gly) c.6836A>G (p.Asp2279Gly) c.7004A>G (p.Asp2335Gly) | gnomAD v4 |
16 | g.89279409T>G | CA8241291 | ANKRD11 | c.7133A>C (p.Asp2378Ala) c.*6936A>C (n.*6936A>C) c.745-4218A>C (n.745-4218A>C) c.152-4218A>C n.308A>C c.7031A>C (p.Asp2344Ala) c.6836A>C (p.Asp2279Ala) c.7004A>C (p.Asp2335Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279409T= | CA2241586696 | ANKRD11 | c.7133A= (p.Asp2378=) c.*6936A= (n.*6936A=) c.745-4218A= (n.745-4218A=) c.152-4218A= n.308A= c.7031A= (p.Asp2344=) c.6836A= (p.Asp2279=) c.7004A= (p.Asp2335=) | |
16 | g.89279409_89279410delinsTC | CA2241586697 | ANKRD11 | c.7132_7133delinsGA (p.Asp2378=) c.*6935_*6936delinsGA (n.*6935_*6936delinsGA) c.745-4219_745-4218delinsGA (n.745-4219_745-4218delinsGA) c.152-4219_152-4218delinsGA n.307_308delinsGA c.7030_7031delinsGA (p.Asp2344=) c.6835_6836delinsGA (p.Asp2279=) c.7003_7004delinsGA (p.Asp2335=) | |
16 | g.89279410del | CA980389764 | ANKRD11 | c.7132del (p.Asp2378ThrfsTer23) c.*6935del (n.*6935del) c.745-4219del (n.745-4219del) c.152-4219del n.307del c.7030del (p.Asp2344ThrfsTer23) c.6835del (p.Asp2279ThrfsTer23) c.7003del (p.Asp2335ThrfsTer23) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89279410C>A | CA397149256 | ANKRD11 | c.7132G>T (p.Asp2378Tyr) c.*6935G>T (n.*6935G>T) c.745-4219G>T (n.745-4219G>T) c.152-4219G>T n.307G>T c.7030G>T (p.Asp2344Tyr) c.6835G>T (p.Asp2279Tyr) c.7003G>T (p.Asp2335Tyr) | gnomAD v4 |
16 | g.89279410C= | CA2241586698 | ANKRD11 | c.7132G= (p.Asp2378=) c.*6935G= (n.*6935G=) c.745-4219G= (n.745-4219G=) c.152-4219G= n.307G= c.7030G= (p.Asp2344=) c.6835G= (p.Asp2279=) c.7003G= (p.Asp2335=) | |
16 | g.89279410C>G | CA397149258 | ANKRD11 | c.7132G>C (p.Asp2378His) c.*6935G>C (n.*6935G>C) c.745-4219G>C (n.745-4219G>C) c.152-4219G>C n.307G>C c.7030G>C (p.Asp2344His) c.6835G>C (p.Asp2279His) c.7003G>C (p.Asp2335His) | |
16 | g.89279410C>T | CA286509486 | ANKRD11 | c.7132G>A (p.Asp2378Asn) c.*6935G>A (n.*6935G>A) c.745-4219G>A (n.745-4219G>A) c.152-4219G>A n.307G>A c.7030G>A (p.Asp2344Asn) c.6835G>A (p.Asp2279Asn) c.7003G>A (p.Asp2335Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279411G>A | CA286509489 | ANKRD11 | c.7131C>T (p.Asp2377=) c.*6934C>T (n.*6934C>T) c.745-4220C>T (n.745-4220C>T) c.152-4220C>T n.306C>T c.7029C>T (p.Asp2343=) c.6834C>T (p.Asp2278=) c.7002C>T (p.Asp2334=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.89279411G>C | CA397149261 | ANKRD11 | c.7131C>G (p.Asp2377Glu) c.*6934C>G (n.*6934C>G) c.745-4220C>G (n.745-4220C>G) c.152-4220C>G n.306C>G c.7029C>G (p.Asp2343Glu) c.6834C>G (p.Asp2278Glu) c.7002C>G (p.Asp2334Glu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89279411G= | CA2241586699 | ANKRD11 | c.7131C= (p.Asp2377=) c.*6934C= (n.*6934C=) c.745-4220C= (n.745-4220C=) c.152-4220C= n.306C= c.7029C= (p.Asp2343=) c.6834C= (p.Asp2278=) c.7002C= (p.Asp2334=) | |
16 | g.89279411G>T | CA397149262 | ANKRD11 | c.7131C>A (p.Asp2377Glu) c.*6934C>A (n.*6934C>A) c.745-4220C>A (n.745-4220C>A) c.152-4220C>A n.306C>A c.7029C>A (p.Asp2343Glu) c.6834C>A (p.Asp2278Glu) c.7002C>A (p.Asp2334Glu) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89279412T>A | CA397149263 | ANKRD11 | c.7130A>T (p.Asp2377Val) c.*6933A>T (n.*6933A>T) c.745-4221A>T (n.745-4221A>T) c.152-4221A>T n.305A>T c.7028A>T (p.Asp2343Val) c.6833A>T (p.Asp2278Val) c.7001A>T (p.Asp2334Val) | dbSNP gnomAD v4 |
16 | g.89279412T>C | CA397149264 | ANKRD11 | c.7130A>G (p.Asp2377Gly) c.*6933A>G (n.*6933A>G) c.745-4221A>G (n.745-4221A>G) c.152-4221A>G n.305A>G c.7028A>G (p.Asp2343Gly) c.6833A>G (p.Asp2278Gly) c.7001A>G (p.Asp2334Gly) | |
16 | g.89279412T>G | CA397149265 | ANKRD11 | c.7130A>C (p.Asp2377Ala) c.*6933A>C (n.*6933A>C) c.745-4221A>C (n.745-4221A>C) c.152-4221A>C n.305A>C c.7028A>C (p.Asp2343Ala) c.6833A>C (p.Asp2278Ala) c.7001A>C (p.Asp2334Ala) | gnomAD v4 |
16 | g.89279412T= | CA2241586700 | ANKRD11 | c.7130A= (p.Asp2377=) c.*6933A= (n.*6933A=) c.745-4221A= (n.745-4221A=) c.152-4221A= n.305A= c.7028A= (p.Asp2343=) c.6833A= (p.Asp2278=) c.7001A= (p.Asp2334=) | |
16 | g.89279413C>A | CA286509492 | ANKRD11 | c.7129G>T (p.Asp2377Tyr) c.*6932G>T (n.*6932G>T) c.745-4222G>T (n.745-4222G>T) c.152-4222G>T n.304G>T c.7027G>T (p.Asp2343Tyr) c.6832G>T (p.Asp2278Tyr) c.7000G>T (p.Asp2334Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279413C= | CA2241586701 | ANKRD11 | c.7129G= (p.Asp2377=) c.*6932G= (n.*6932G=) c.745-4222G= (n.745-4222G=) c.152-4222G= n.304G= c.7027G= (p.Asp2343=) c.6832G= (p.Asp2278=) c.7000G= (p.Asp2334=) | |
16 | g.89279413C>G | CA397149266 | ANKRD11 | c.7129G>C (p.Asp2377His) c.*6932G>C (n.*6932G>C) c.745-4222G>C (n.745-4222G>C) c.152-4222G>C n.304G>C c.7027G>C (p.Asp2343His) c.6832G>C (p.Asp2278His) c.7000G>C (p.Asp2334His) | |
16 | g.89279413C>T | CA397149267 | ANKRD11 | c.7129G>A (p.Asp2377Asn) c.*6932G>A (n.*6932G>A) c.745-4222G>A (n.745-4222G>A) c.152-4222G>A n.304G>A c.7027G>A (p.Asp2343Asn) c.6832G>A (p.Asp2278Asn) c.7000G>A (p.Asp2334Asn) | |
16 | g.89279413_89279414delinsAC | CA2740093464 | ANKRD11 | c.7128_7129delinsGT (p.Asp2376_Asp2377delinsGluTyr) c.*6931_*6932delinsGT (n.*6931_*6932delinsGT) c.745-4223_745-4222delinsGT (n.745-4223_745-4222delinsGT) c.152-4223_152-4222delinsGT n.303_304delinsGT c.7026_7027delinsGT (p.Asp2342_Asp2343delinsGluTyr) c.6831_6832delinsGT (p.Asp2277_Asp2278delinsGluTyr) c.6999_7000delinsGT (p.Asp2333_Asp2334delinsGluTyr) | ClinVar |
16 | g.89279414G>A | CA497372642 | ANKRD11 | c.7128C>T (p.Asp2376=) c.*6931C>T (n.*6931C>T) c.745-4223C>T (n.745-4223C>T) c.152-4223C>T n.303C>T c.7026C>T (p.Asp2342=) c.6831C>T (p.Asp2277=) c.6999C>T (p.Asp2333=) | ClinVar dbSNP gnomAD v4 |
16 | g.89279414G>C | CA8241292 | ANKRD11 | c.7128C>G (p.Asp2376Glu) c.*6931C>G (n.*6931C>G) c.745-4223C>G (n.745-4223C>G) c.152-4223C>G n.303C>G c.7026C>G (p.Asp2342Glu) c.6831C>G (p.Asp2277Glu) c.6999C>G (p.Asp2333Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279414G= | CA2241586702 | ANKRD11 | c.7128C= (p.Asp2376=) c.*6931C= (n.*6931C=) c.745-4223C= (n.745-4223C=) c.152-4223C= n.303C= c.7026C= (p.Asp2342=) c.6831C= (p.Asp2277=) c.6999C= (p.Asp2333=) | |
16 | g.89279414G>T | CA397149268 | ANKRD11 | c.7128C>A (p.Asp2376Glu) c.*6931C>A (n.*6931C>A) c.745-4223C>A (n.745-4223C>A) c.152-4223C>A n.303C>A c.7026C>A (p.Asp2342Glu) c.6831C>A (p.Asp2277Glu) c.6999C>A (p.Asp2333Glu) | |
16 | g.89279415T>A | CA397149271 | ANKRD11 | c.7127A>T (p.Asp2376Val) c.*6930A>T (n.*6930A>T) c.745-4224A>T (n.745-4224A>T) c.152-4224A>T n.302A>T c.7025A>T (p.Asp2342Val) c.6830A>T (p.Asp2277Val) c.6998A>T (p.Asp2333Val) | |
16 | g.89279415T>C | CA397149269 | ANKRD11 | c.7127A>G (p.Asp2376Gly) c.*6930A>G (n.*6930A>G) c.745-4224A>G (n.745-4224A>G) c.152-4224A>G n.302A>G c.7025A>G (p.Asp2342Gly) c.6830A>G (p.Asp2277Gly) c.6998A>G (p.Asp2333Gly) | gnomAD v4 |
16 | g.89279415T>G | CA397149270 | ANKRD11 | c.7127A>C (p.Asp2376Ala) c.*6930A>C (n.*6930A>C) c.745-4224A>C (n.745-4224A>C) c.152-4224A>C n.302A>C c.7025A>C (p.Asp2342Ala) c.6830A>C (p.Asp2277Ala) c.6998A>C (p.Asp2333Ala) | |
16 | g.89279417_89279419dup | CA8241293 | ANKRD11 | c.7125_7127dup (p.Glu2375_Asp2376insGlu) c.*6928_*6930dup (n.*6928_*6930dup) c.745-4226_745-4224dup (n.745-4226_745-4224dup) c.152-4226_152-4224dup n.300_302dup c.7023_7025dup (p.Glu2341_Asp2342insGlu) c.6828_6830dup (p.Glu2276_Asp2277insGlu) c.6996_6998dup (p.Glu2332_Asp2333insGlu) | dbSNP ExAC |
16 | g.89279416C>A | CA397149273 | ANKRD11 | c.7126G>T (p.Asp2376Tyr) c.*6929G>T (n.*6929G>T) c.745-4225G>T (n.745-4225G>T) c.152-4225G>T n.301G>T c.7024G>T (p.Asp2342Tyr) c.6829G>T (p.Asp2277Tyr) c.6997G>T (p.Asp2333Tyr) | |
16 | g.89279416C>G | CA397149272 | ANKRD11 | c.7126G>C (p.Asp2376His) c.*6929G>C (n.*6929G>C) c.745-4225G>C (n.745-4225G>C) c.152-4225G>C n.301G>C c.7024G>C (p.Asp2342His) c.6829G>C (p.Asp2277His) c.6997G>C (p.Asp2333His) | |
16 | g.89279416C>T | CA397149274 | ANKRD11 | c.7126G>A (p.Asp2376Asn) c.*6929G>A (n.*6929G>A) c.745-4225G>A (n.745-4225G>A) c.152-4225G>A n.301G>A c.7024G>A (p.Asp2342Asn) c.6829G>A (p.Asp2277Asn) c.6997G>A (p.Asp2333Asn) | |
16 | g.89279417C>A | CA397149275 | ANKRD11 | c.7125G>T (p.Glu2375Asp) c.*6928G>T (n.*6928G>T) c.745-4226G>T (n.745-4226G>T) c.152-4226G>T n.300G>T c.7023G>T (p.Glu2341Asp) c.6828G>T (p.Glu2276Asp) c.6996G>T (p.Glu2332Asp) | |
16 | g.89279417C>G | CA397149276 | ANKRD11 | c.7125G>C (p.Glu2375Asp) c.*6928G>C (n.*6928G>C) c.745-4226G>C (n.745-4226G>C) c.152-4226G>C n.300G>C c.7023G>C (p.Glu2341Asp) c.6828G>C (p.Glu2276Asp) c.6996G>C (p.Glu2332Asp) | |
16 | g.89279417C>T | CA497372648 | ANKRD11 | c.7125G>A (p.Glu2375=) c.*6928G>A (n.*6928G>A) c.745-4226G>A (n.745-4226G>A) c.152-4226G>A n.300G>A c.7023G>A (p.Glu2341=) c.6828G>A (p.Glu2276=) c.6996G>A (p.Glu2332=) | |
16 | g.89279418T>A | CA397149277 | ANKRD11 | c.7124A>T (p.Glu2375Val) c.*6927A>T (n.*6927A>T) c.745-4227A>T (n.745-4227A>T) c.152-4227A>T n.299A>T c.7022A>T (p.Glu2341Val) c.6827A>T (p.Glu2276Val) c.6995A>T (p.Glu2332Val) | |
16 | g.89279418T>C | CA397149278 | ANKRD11 | c.7124A>G (p.Glu2375Gly) c.*6927A>G (n.*6927A>G) c.745-4227A>G (n.745-4227A>G) c.152-4227A>G n.299A>G c.7022A>G (p.Glu2341Gly) c.6827A>G (p.Glu2276Gly) c.6995A>G (p.Glu2332Gly) | |
16 | g.89279418T>G | CA397149279 | ANKRD11 | c.7124A>C (p.Glu2375Ala) c.*6927A>C (n.*6927A>C) c.745-4227A>C (n.745-4227A>C) c.152-4227A>C n.299A>C c.7022A>C (p.Glu2341Ala) c.6827A>C (p.Glu2276Ala) c.6995A>C (p.Glu2332Ala) | |
16 | g.89279419C>A | CA397149280 | ANKRD11 | c.7123G>T (p.Glu2375Ter) c.*6926G>T (n.*6926G>T) c.745-4228G>T (n.745-4228G>T) c.152-4228G>T n.298G>T c.7021G>T (p.Glu2341Ter) c.6826G>T (p.Glu2276Ter) c.6994G>T (p.Glu2332Ter) | |
16 | g.89279419C= | CA2241586703 | ANKRD11 | c.7123G= (p.Glu2375=) c.*6926G= (n.*6926G=) c.745-4228G= (n.745-4228G=) c.152-4228G= n.298G= c.7021G= (p.Glu2341=) c.6826G= (p.Glu2276=) c.6994G= (p.Glu2332=) | |
16 | g.89279419C>G | CA397149281 | ANKRD11 | c.7123G>C (p.Glu2375Gln) c.*6926G>C (n.*6926G>C) c.745-4228G>C (n.745-4228G>C) c.152-4228G>C n.298G>C c.7021G>C (p.Glu2341Gln) c.6826G>C (p.Glu2276Gln) c.6994G>C (p.Glu2332Gln) | |
16 | g.89279419C>T | CA397149282 | ANKRD11 | c.7123G>A (p.Glu2375Lys) c.*6926G>A (n.*6926G>A) c.745-4228G>A (n.745-4228G>A) c.152-4228G>A n.298G>A c.7021G>A (p.Glu2341Lys) c.6826G>A (p.Glu2276Lys) c.6994G>A (p.Glu2332Lys) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89279420G>A | CA497372654 | ANKRD11 | c.7122C>T (p.Ser2374=) c.*6925C>T (n.*6925C>T) c.745-4229C>T (n.745-4229C>T) c.152-4229C>T n.297C>T c.7020C>T (p.Ser2340=) c.6825C>T (p.Ser2275=) c.6993C>T (p.Ser2331=) | dbSNP gnomAD v4 |
16 | g.89279420G>C | CA497372656 | ANKRD11 | c.7122C>G (p.Ser2374=) c.*6925C>G (n.*6925C>G) c.745-4229C>G (n.745-4229C>G) c.152-4229C>G n.297C>G c.7020C>G (p.Ser2340=) c.6825C>G (p.Ser2275=) c.6993C>G (p.Ser2331=) | gnomAD v4 |
16 | g.89279420G= | CA2241586704 | ANKRD11 | c.7122C= (p.Ser2374=) c.*6925C= (n.*6925C=) c.745-4229C= (n.745-4229C=) c.152-4229C= n.297C= c.7020C= (p.Ser2340=) c.6825C= (p.Ser2275=) c.6993C= (p.Ser2331=) | |
16 | g.89279420G>T | CA497372657 | ANKRD11 | c.7122C>A (p.Ser2374=) c.*6925C>A (n.*6925C>A) c.745-4229C>A (n.745-4229C>A) c.152-4229C>A n.297C>A c.7020C>A (p.Ser2340=) c.6825C>A (p.Ser2275=) c.6993C>A (p.Ser2331=) | gnomAD v4 |
16 | g.89279421G>A | CA397149283 | ANKRD11 | c.7121C>T (p.Ser2374Phe) c.*6924C>T (n.*6924C>T) c.745-4230C>T (n.745-4230C>T) c.152-4230C>T n.296C>T c.7019C>T (p.Ser2340Phe) c.6824C>T (p.Ser2275Phe) c.6992C>T (p.Ser2331Phe) | |
16 | g.89279421G>C | CA397149284 | ANKRD11 | c.7121C>G (p.Ser2374Cys) c.*6924C>G (n.*6924C>G) c.745-4230C>G (n.745-4230C>G) c.152-4230C>G n.296C>G c.7019C>G (p.Ser2340Cys) c.6824C>G (p.Ser2275Cys) c.6992C>G (p.Ser2331Cys) | dbSNP |
16 | g.89279421G= | CA2241586705 | ANKRD11 | c.7121C= (p.Ser2374=) c.*6924C= (n.*6924C=) c.745-4230C= (n.745-4230C=) c.152-4230C= n.296C= c.7019C= (p.Ser2340=) c.6824C= (p.Ser2275=) c.6992C= (p.Ser2331=) | |
16 | g.89279421G>T | CA397149285 | ANKRD11 | c.7121C>A (p.Ser2374Tyr) c.*6924C>A (n.*6924C>A) c.745-4230C>A (n.745-4230C>A) c.152-4230C>A n.296C>A c.7019C>A (p.Ser2340Tyr) c.6824C>A (p.Ser2275Tyr) c.6992C>A (p.Ser2331Tyr) | |
16 | g.89279422A>C | CA397149286 | ANKRD11 | c.7120T>G (p.Ser2374Ala) c.*6923T>G (n.*6923T>G) c.745-4231T>G (n.745-4231T>G) c.152-4231T>G n.295T>G c.7018T>G (p.Ser2340Ala) c.6823T>G (p.Ser2275Ala) c.6991T>G (p.Ser2331Ala) | |
16 | g.89279422A>G | CA397149287 | ANKRD11 | c.7120T>C (p.Ser2374Pro) c.*6923T>C (n.*6923T>C) c.745-4231T>C (n.745-4231T>C) c.152-4231T>C n.295T>C c.7018T>C (p.Ser2340Pro) c.6823T>C (p.Ser2275Pro) c.6991T>C (p.Ser2331Pro) | |
16 | g.89279422A>T | CA397149288 | ANKRD11 | c.7120T>A (p.Ser2374Thr) c.*6923T>A (n.*6923T>A) c.745-4231T>A (n.745-4231T>A) c.152-4231T>A n.295T>A c.7018T>A (p.Ser2340Thr) c.6823T>A (p.Ser2275Thr) c.6991T>A (p.Ser2331Thr) | |
16 | g.89279423G>A | CA497372664 | ANKRD11 | c.7119C>T (p.Gly2373=) c.*6922C>T (n.*6922C>T) c.745-4232C>T (n.745-4232C>T) c.152-4232C>T n.294C>T c.7017C>T (p.Gly2339=) c.6822C>T (p.Gly2274=) c.6990C>T (p.Gly2330=) | dbSNP gnomAD v4 |
16 | g.89279423G>C | CA497372659 | ANKRD11 | c.7119C>G (p.Gly2373=) c.*6922C>G (n.*6922C>G) c.745-4232C>G (n.745-4232C>G) c.152-4232C>G n.294C>G c.7017C>G (p.Gly2339=) c.6822C>G (p.Gly2274=) c.6990C>G (p.Gly2330=) | |
16 | g.89279423G= | CA2241586706 | ANKRD11 | c.7119C= (p.Gly2373=) c.*6922C= (n.*6922C=) c.745-4232C= (n.745-4232C=) c.152-4232C= n.294C= c.7017C= (p.Gly2339=) c.6822C= (p.Gly2274=) c.6990C= (p.Gly2330=) | |
16 | g.89279423G>T | CA497372661 | ANKRD11 | c.7119C>A (p.Gly2373=) c.*6922C>A (n.*6922C>A) c.745-4232C>A (n.745-4232C>A) c.152-4232C>A n.294C>A c.7017C>A (p.Gly2339=) c.6822C>A (p.Gly2274=) c.6990C>A (p.Gly2330=) | gnomAD v4 |
16 | g.89279424C>A | CA397149291 | ANKRD11 | c.7118G>T (p.Gly2373Val) c.*6921G>T (n.*6921G>T) c.745-4233G>T (n.745-4233G>T) c.152-4233G>T n.293G>T c.7016G>T (p.Gly2339Val) c.6821G>T (p.Gly2274Val) c.6989G>T (p.Gly2330Val) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89279424C= | CA2241586707 | ANKRD11 | c.7118G= (p.Gly2373=) c.*6921G= (n.*6921G=) c.745-4233G= (n.745-4233G=) c.152-4233G= n.293G= c.7016G= (p.Gly2339=) c.6821G= (p.Gly2274=) c.6989G= (p.Gly2330=) | |
16 | g.89279424C>G | CA397149290 | ANKRD11 | c.7118G>C (p.Gly2373Ala) c.*6921G>C (n.*6921G>C) c.745-4233G>C (n.745-4233G>C) c.152-4233G>C n.293G>C c.7016G>C (p.Gly2339Ala) c.6821G>C (p.Gly2274Ala) c.6989G>C (p.Gly2330Ala) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89279424C>T | CA397149289 | ANKRD11 | c.7118G>A (p.Gly2373Asp) c.*6921G>A (n.*6921G>A) c.745-4233G>A (n.745-4233G>A) c.152-4233G>A n.293G>A c.7016G>A (p.Gly2339Asp) c.6821G>A (p.Gly2274Asp) c.6989G>A (p.Gly2330Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279425C>A | CA397149292 | ANKRD11 | c.7117G>T (p.Gly2373Cys) c.*6920G>T (n.*6920G>T) c.745-4234G>T (n.745-4234G>T) c.152-4234G>T n.292G>T c.7015G>T (p.Gly2339Cys) c.6820G>T (p.Gly2274Cys) c.6988G>T (p.Gly2330Cys) | gnomAD v4 |
16 | g.89279425C= | CA2241586708 | ANKRD11 | c.7117G= (p.Gly2373=) c.*6920G= (n.*6920G=) c.745-4234G= (n.745-4234G=) c.152-4234G= n.292G= c.7015G= (p.Gly2339=) c.6820G= (p.Gly2274=) c.6988G= (p.Gly2330=) | |
16 | g.89279425C>G | CA397149293 | ANKRD11 | c.7117G>C (p.Gly2373Arg) c.*6920G>C (n.*6920G>C) c.745-4234G>C (n.745-4234G>C) c.152-4234G>C n.292G>C c.7015G>C (p.Gly2339Arg) c.6820G>C (p.Gly2274Arg) c.6988G>C (p.Gly2330Arg) | |
16 | g.89279425C>T | CA397149294 | ANKRD11 | c.7117G>A (p.Gly2373Ser) c.*6920G>A (n.*6920G>A) c.745-4234G>A (n.745-4234G>A) c.152-4234G>A n.292G>A c.7015G>A (p.Gly2339Ser) c.6820G>A (p.Gly2274Ser) c.6988G>A (p.Gly2330Ser) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89279426G>A | CA497372668 | ANKRD11 | c.7116C>T (p.Arg2372=) c.*6919C>T (n.*6919C>T) c.745-4235C>T (n.745-4235C>T) c.152-4235C>T n.291C>T c.7014C>T (p.Arg2338=) c.6819C>T (p.Arg2273=) c.6987C>T (p.Arg2329=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279426G>C | CA286509498 | ANKRD11 | c.7116C>G (p.Arg2372=) c.*6919C>G (n.*6919C>G) c.745-4235C>G (n.745-4235C>G) c.152-4235C>G n.291C>G c.7014C>G (p.Arg2338=) c.6819C>G (p.Arg2273=) c.6987C>G (p.Arg2329=) | dbSNP |
16 | g.89279426G= | CA2241586709 | ANKRD11 | c.7116C= (p.Arg2372=) c.*6919C= (n.*6919C=) c.745-4235C= (n.745-4235C=) c.152-4235C= n.291C= c.7014C= (p.Arg2338=) c.6819C= (p.Arg2273=) c.6987C= (p.Arg2329=) | |
16 | g.89279426G>T | CA497372669 | ANKRD11 | c.7116C>A (p.Arg2372=) c.*6919C>A (n.*6919C>A) c.745-4235C>A (n.745-4235C>A) c.152-4235C>A n.291C>A c.7014C>A (p.Arg2338=) c.6819C>A (p.Arg2273=) c.6987C>A (p.Arg2329=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89279427C>A | CA397149295 | ANKRD11 | c.7115G>T (p.Arg2372Leu) c.*6918G>T (n.*6918G>T) c.745-4236G>T (n.745-4236G>T) c.152-4236G>T n.290G>T c.7013G>T (p.Arg2338Leu) c.6818G>T (p.Arg2273Leu) c.6986G>T (p.Arg2329Leu) | |
16 | g.89279427C= | CA2241586710 | ANKRD11 | c.7115G= (p.Arg2372=) c.*6918G= (n.*6918G=) c.745-4236G= (n.745-4236G=) c.152-4236G= n.290G= c.7013G= (p.Arg2338=) c.6818G= (p.Arg2273=) c.6986G= (p.Arg2329=) | |
16 | g.89279427C>G | CA286509503 | ANKRD11 | c.7115G>C (p.Arg2372Pro) c.*6918G>C (n.*6918G>C) c.745-4236G>C (n.745-4236G>C) c.152-4236G>C n.290G>C c.7013G>C (p.Arg2338Pro) c.6818G>C (p.Arg2273Pro) c.6986G>C (p.Arg2329Pro) | dbSNP |
16 | g.89279427C>T | CA8241294 | ANKRD11 | c.7115G>A (p.Arg2372His) c.*6918G>A (n.*6918G>A) c.745-4236G>A (n.745-4236G>A) c.152-4236G>A n.290G>A c.7013G>A (p.Arg2338His) c.6818G>A (p.Arg2273His) c.6986G>A (p.Arg2329His) | dbSNP ExAC gnomAD v3 gnomAD v4 |
16 | g.89279428G>A | CA397149296 | ANKRD11 | c.7114C>T (p.Arg2372Cys) c.*6917C>T (n.*6917C>T) c.745-4237C>T (n.745-4237C>T) c.152-4237C>T n.289C>T c.7012C>T (p.Arg2338Cys) c.6817C>T (p.Arg2273Cys) c.6985C>T (p.Arg2329Cys) | ClinVar dbSNP gnomAD v4 |
16 | g.89279428G>C | CA397149297 | ANKRD11 | c.7114C>G (p.Arg2372Gly) c.*6917C>G (n.*6917C>G) c.745-4237C>G (n.745-4237C>G) c.152-4237C>G n.289C>G c.7012C>G (p.Arg2338Gly) c.6817C>G (p.Arg2273Gly) c.6985C>G (p.Arg2329Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279428G= | CA2241586711 | ANKRD11 | c.7114C= (p.Arg2372=) c.*6917C= (n.*6917C=) c.745-4237C= (n.745-4237C=) c.152-4237C= n.289C= c.7012C= (p.Arg2338=) c.6817C= (p.Arg2273=) c.6985C= (p.Arg2329=) | |
16 | g.89279428G>T | CA397149298 | ANKRD11 | c.7114C>A (p.Arg2372Ser) c.*6917C>A (n.*6917C>A) c.745-4237C>A (n.745-4237C>A) c.152-4237C>A n.289C>A c.7012C>A (p.Arg2338Ser) c.6817C>A (p.Arg2273Ser) c.6985C>A (p.Arg2329Ser) | |
16 | g.89279430dup | CA915949407 | ANKRD11 | c.7114dup (p.Arg2372ProfsTer?) c.*6917dup (n.*6917dup) c.745-4237dup (n.745-4237dup) c.152-4237dup n.289dup c.7012dup (p.Arg2338ProfsTer?) c.6817dup (p.Arg2273ProfsTer?) c.6985dup (p.Arg2329ProfsTer?) | ClinVar dbSNP |
16 | g.89279429G>A | CA497372675 | ANKRD11 | c.7113C>T (p.Ala2371=) c.*6916C>T (n.*6916C>T) c.745-4238C>T (n.745-4238C>T) c.152-4238C>T n.288C>T c.7011C>T (p.Ala2337=) c.6816C>T (p.Ala2272=) c.6984C>T (p.Ala2328=) | dbSNP gnomAD v4 |
16 | g.89279429G>C | CA497372677 | ANKRD11 | c.7113C>G (p.Ala2371=) c.*6916C>G (n.*6916C>G) c.745-4238C>G (n.745-4238C>G) c.152-4238C>G n.288C>G c.7011C>G (p.Ala2337=) c.6816C>G (p.Ala2272=) c.6984C>G (p.Ala2328=) | |
16 | g.89279429G= | CA2241586712 | ANKRD11 | c.7113C= (p.Ala2371=) c.*6916C= (n.*6916C=) c.745-4238C= (n.745-4238C=) c.152-4238C= n.288C= c.7011C= (p.Ala2337=) c.6816C= (p.Ala2272=) c.6984C= (p.Ala2328=) | |
16 | g.89279429G>T | CA497372676 | ANKRD11 | c.7113C>A (p.Ala2371=) c.*6916C>A (n.*6916C>A) c.745-4238C>A (n.745-4238C>A) c.152-4238C>A n.288C>A c.7011C>A (p.Ala2337=) c.6816C>A (p.Ala2272=) c.6984C>A (p.Ala2328=) | |
16 | g.89279430G>A | CA397149300 | ANKRD11 | c.7112C>T (p.Ala2371Val) c.*6915C>T (n.*6915C>T) c.745-4239C>T (n.745-4239C>T) c.152-4239C>T n.287C>T c.7010C>T (p.Ala2337Val) c.6815C>T (p.Ala2272Val) c.6983C>T (p.Ala2328Val) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89279430G>C | CA397149301 | ANKRD11 | c.7112C>G (p.Ala2371Gly) c.*6915C>G (n.*6915C>G) c.745-4239C>G (n.745-4239C>G) c.152-4239C>G n.287C>G c.7010C>G (p.Ala2337Gly) c.6815C>G (p.Ala2272Gly) c.6983C>G (p.Ala2328Gly) | gnomAD v4 |
16 | g.89279430G= | CA2241586713 | ANKRD11 | c.7112C= (p.Ala2371=) c.*6915C= (n.*6915C=) c.745-4239C= (n.745-4239C=) c.152-4239C= n.287C= c.7010C= (p.Ala2337=) c.6815C= (p.Ala2272=) c.6983C= (p.Ala2328=) | |
16 | g.89279430G>T | CA397149303 | ANKRD11 | c.7112C>A (p.Ala2371Asp) c.*6915C>A (n.*6915C>A) c.745-4239C>A (n.745-4239C>A) c.152-4239C>A n.287C>A c.7010C>A (p.Ala2337Asp) c.6815C>A (p.Ala2272Asp) c.6983C>A (p.Ala2328Asp) | |
16 | g.89279431C>A | CA8241295 | ANKRD11 | c.7111G>T (p.Ala2371Ser) c.*6914G>T (n.*6914G>T) c.745-4240G>T (n.745-4240G>T) c.152-4240G>T n.286G>T c.7009G>T (p.Ala2337Ser) c.6814G>T (p.Ala2272Ser) c.6982G>T (p.Ala2328Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279431C= | CA2241586714 | ANKRD11 | c.7111G= (p.Ala2371=) c.*6914G= (n.*6914G=) c.745-4240G= (n.745-4240G=) c.152-4240G= n.286G= c.7009G= (p.Ala2337=) c.6814G= (p.Ala2272=) c.6982G= (p.Ala2328=) | |
16 | g.89279431C>G | CA397149305 | ANKRD11 | c.7111G>C (p.Ala2371Pro) c.*6914G>C (n.*6914G>C) c.745-4240G>C (n.745-4240G>C) c.152-4240G>C n.286G>C c.7009G>C (p.Ala2337Pro) c.6814G>C (p.Ala2272Pro) c.6982G>C (p.Ala2328Pro) | |
16 | g.89279431C>T | CA397149304 | ANKRD11 | c.7111G>A (p.Ala2371Thr) c.*6914G>A (n.*6914G>A) c.745-4240G>A (n.745-4240G>A) c.152-4240G>A n.286G>A c.7009G>A (p.Ala2337Thr) c.6814G>A (p.Ala2272Thr) c.6982G>A (p.Ala2328Thr) | gnomAD v4 |
16 | g.89279432C>A | CA397149306 | ANKRD11 | c.7110G>T (p.Lys2370Asn) c.*6913G>T (n.*6913G>T) c.745-4241G>T (n.745-4241G>T) c.152-4241G>T n.285G>T c.7008G>T (p.Lys2336Asn) c.6813G>T (p.Lys2271Asn) c.6981G>T (p.Lys2327Asn) | |
16 | g.89279432C>G | CA397149307 | ANKRD11 | c.7110G>C (p.Lys2370Asn) c.*6913G>C (n.*6913G>C) c.745-4241G>C (n.745-4241G>C) c.152-4241G>C n.285G>C c.7008G>C (p.Lys2336Asn) c.6813G>C (p.Lys2271Asn) c.6981G>C (p.Lys2327Asn) | |
16 | g.89279432C>T | CA497372683 | ANKRD11 | c.7110G>A (p.Lys2370=) c.*6913G>A (n.*6913G>A) c.745-4241G>A (n.745-4241G>A) c.152-4241G>A n.285G>A c.7008G>A (p.Lys2336=) c.6813G>A (p.Lys2271=) c.6981G>A (p.Lys2327=) | |
16 | g.89279433T>A | CA397149308 | ANKRD11 | c.7109A>T (p.Lys2370Met) c.*6912A>T (n.*6912A>T) c.745-4242A>T (n.745-4242A>T) c.152-4242A>T n.284A>T c.7007A>T (p.Lys2336Met) c.6812A>T (p.Lys2271Met) c.6980A>T (p.Lys2327Met) | |
16 | g.89279433T>C | CA397149309 | ANKRD11 | c.7109A>G (p.Lys2370Arg) c.*6912A>G (n.*6912A>G) c.745-4242A>G (n.745-4242A>G) c.152-4242A>G n.284A>G c.7007A>G (p.Lys2336Arg) c.6812A>G (p.Lys2271Arg) c.6980A>G (p.Lys2327Arg) | ClinVar |
16 | g.89279433T>G | CA397149310 | ANKRD11 | c.7109A>C (p.Lys2370Thr) c.*6912A>C (n.*6912A>C) c.745-4242A>C (n.745-4242A>C) c.152-4242A>C n.284A>C c.7007A>C (p.Lys2336Thr) c.6812A>C (p.Lys2271Thr) c.6980A>C (p.Lys2327Thr) | gnomAD v4 |
16 | g.89279434T>A | CA397149311 | ANKRD11 | c.7108A>T (p.Lys2370Ter) c.*6911A>T (n.*6911A>T) c.745-4243A>T (n.745-4243A>T) c.152-4243A>T n.283A>T c.7006A>T (p.Lys2336Ter) c.6811A>T (p.Lys2271Ter) c.6979A>T (p.Lys2327Ter) | |
16 | g.89279434T>C | CA397149312 | ANKRD11 | c.7108A>G (p.Lys2370Glu) c.*6911A>G (n.*6911A>G) c.745-4243A>G (n.745-4243A>G) c.152-4243A>G n.283A>G c.7006A>G (p.Lys2336Glu) c.6811A>G (p.Lys2271Glu) c.6979A>G (p.Lys2327Glu) | |
16 | g.89279434T>G | CA397149313 | ANKRD11 | c.7108A>C (p.Lys2370Gln) c.*6911A>C (n.*6911A>C) c.745-4243A>C (n.745-4243A>C) c.152-4243A>C n.283A>C c.7006A>C (p.Lys2336Gln) c.6811A>C (p.Lys2271Gln) c.6979A>C (p.Lys2327Gln) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89279434T= | CA2241586715 | ANKRD11 | c.7108A= (p.Lys2370=) c.*6911A= (n.*6911A=) c.745-4243A= (n.745-4243A=) c.152-4243A= n.283A= c.7006A= (p.Lys2336=) c.6811A= (p.Lys2271=) c.6979A= (p.Lys2327=) | |
16 | g.89279435G>A | CA497372688 | ANKRD11 | c.7107C>T (p.Ala2369=) c.*6910C>T (n.*6910C>T) c.745-4244C>T (n.745-4244C>T) c.152-4244C>T n.282C>T c.7005C>T (p.Ala2335=) c.6810C>T (p.Ala2270=) c.6978C>T (p.Ala2326=) | |
16 | g.89279435G>C | CA497372690 | ANKRD11 | c.7107C>G (p.Ala2369=) c.*6910C>G (n.*6910C>G) c.745-4244C>G (n.745-4244C>G) c.152-4244C>G n.282C>G c.7005C>G (p.Ala2335=) c.6810C>G (p.Ala2270=) c.6978C>G (p.Ala2326=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279435G= | CA2241586717 | ANKRD11 | c.7107C= (p.Ala2369=) c.*6910C= (n.*6910C=) c.745-4244C= (n.745-4244C=) c.152-4244C= n.282C= c.7005C= (p.Ala2335=) c.6810C= (p.Ala2270=) c.6978C= (p.Ala2326=) | |
16 | g.89279435G>T | CA497372689 | ANKRD11 | c.7107C>A (p.Ala2369=) c.*6910C>A (n.*6910C>A) c.745-4244C>A (n.745-4244C>A) c.152-4244C>A n.282C>A c.7005C>A (p.Ala2335=) c.6810C>A (p.Ala2270=) c.6978C>A (p.Ala2326=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.89279435_89279439delinsGGCCC | CA2241586716 | ANKRD11 | c.7103_7107delinsGGGCC (p.Arg2368=) c.*6906_*6910delinsGGGCC (n.*6906_*6910delinsGGGCC) c.745-4248_745-4244delinsGGGCC (n.745-4248_745-4244delinsGGGCC) c.152-4248_152-4244delinsGGGCC n.278_282delinsGGGCC c.7001_7005delinsGGGCC (p.Arg2334=) c.6806_6810delinsGGGCC (p.Arg2269=) c.6974_6978delinsGGGCC (p.Arg2325=) | |
16 | g.89279436G>A | CA397149314 | ANKRD11 | c.7106C>T (p.Ala2369Val) c.*6909C>T (n.*6909C>T) c.745-4245C>T (n.745-4245C>T) c.152-4245C>T n.281C>T c.7004C>T (p.Ala2335Val) c.6809C>T (p.Ala2270Val) c.6977C>T (p.Ala2326Val) | dbSNP gnomAD v4 COSMIC |
16 | g.89279436G>C | CA397149316 | ANKRD11 | c.7106C>G (p.Ala2369Gly) c.*6909C>G (n.*6909C>G) c.745-4245C>G (n.745-4245C>G) c.152-4245C>G n.281C>G c.7004C>G (p.Ala2335Gly) c.6809C>G (p.Ala2270Gly) c.6977C>G (p.Ala2326Gly) | |
16 | g.89279436G= | CA2241586718 | ANKRD11 | c.7106C= (p.Ala2369=) c.*6909C= (n.*6909C=) c.745-4245C= (n.745-4245C=) c.152-4245C= n.281C= c.7004C= (p.Ala2335=) c.6809C= (p.Ala2270=) c.6977C= (p.Ala2326=) | |
16 | g.89279436G>T | CA397149317 | ANKRD11 | c.7106C>A (p.Ala2369Asp) c.*6909C>A (n.*6909C>A) c.745-4245C>A (n.745-4245C>A) c.152-4245C>A n.281C>A c.7004C>A (p.Ala2335Asp) c.6809C>A (p.Ala2270Asp) c.6977C>A (p.Ala2326Asp) | |
16 | g.89279436_89279439del | CA1139664888 | ANKRD11 | c.7103_7106del (p.Arg2368ThrfsTer?) c.*6906_*6909del (n.*6906_*6909del) c.745-4248_745-4245del (n.745-4248_745-4245del) c.152-4248_152-4245del n.278_281del c.7001_7004del (p.Arg2334ThrfsTer?) c.6806_6809del (p.Arg2269ThrfsTer?) c.6974_6977del (p.Arg2325ThrfsTer?) | ClinVar dbSNP |
16 | g.89279437C>A | CA286509510 | ANKRD11 | c.7105G>T (p.Ala2369Ser) c.*6908G>T (n.*6908G>T) c.745-4246G>T (n.745-4246G>T) c.152-4246G>T n.280G>T c.7003G>T (p.Ala2335Ser) c.6808G>T (p.Ala2270Ser) c.6976G>T (p.Ala2326Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279437C= | CA2241586719 | ANKRD11 | c.7105G= (p.Ala2369=) c.*6908G= (n.*6908G=) c.745-4246G= (n.745-4246G=) c.152-4246G= n.280G= c.7003G= (p.Ala2335=) c.6808G= (p.Ala2270=) c.6976G= (p.Ala2326=) | |
16 | g.89279437C>G | CA397149318 | ANKRD11 | c.7105G>C (p.Ala2369Pro) c.*6908G>C (n.*6908G>C) c.745-4246G>C (n.745-4246G>C) c.152-4246G>C n.280G>C c.7003G>C (p.Ala2335Pro) c.6808G>C (p.Ala2270Pro) c.6976G>C (p.Ala2326Pro) | |
16 | g.89279437C>T | CA397149319 | ANKRD11 | c.7105G>A (p.Ala2369Thr) c.*6908G>A (n.*6908G>A) c.745-4246G>A (n.745-4246G>A) c.152-4246G>A n.280G>A c.7003G>A (p.Ala2335Thr) c.6808G>A (p.Ala2270Thr) c.6976G>A (p.Ala2326Thr) | |
16 | g.89279438C>A | CA397149320 | ANKRD11 | c.7104G>T (p.Arg2368Ser) c.*6907G>T (n.*6907G>T) c.745-4247G>T (n.745-4247G>T) c.152-4247G>T n.279G>T c.7002G>T (p.Arg2334Ser) c.6807G>T (p.Arg2269Ser) c.6975G>T (p.Arg2325Ser) | |
16 | g.89279438C= | CA2241586720 | ANKRD11 | c.7104G= (p.Arg2368=) c.*6907G= (n.*6907G=) c.745-4247G= (n.745-4247G=) c.152-4247G= n.279G= c.7002G= (p.Arg2334=) c.6807G= (p.Arg2269=) c.6975G= (p.Arg2325=) | |
16 | g.89279438C>G | CA397149321 | ANKRD11 | c.7104G>C (p.Arg2368Ser) c.*6907G>C (n.*6907G>C) c.745-4247G>C (n.745-4247G>C) c.152-4247G>C n.279G>C c.7002G>C (p.Arg2334Ser) c.6807G>C (p.Arg2269Ser) c.6975G>C (p.Arg2325Ser) | |
16 | g.89279438C>T | CA497372695 | ANKRD11 | c.7104G>A (p.Arg2368=) c.*6907G>A (n.*6907G>A) c.745-4247G>A (n.745-4247G>A) c.152-4247G>A n.279G>A c.7002G>A (p.Arg2334=) c.6807G>A (p.Arg2269=) c.6975G>A (p.Arg2325=) | dbSNP |
16 | g.89279439C>A | CA397149322 | ANKRD11 | c.7103G>T (p.Arg2368Met) c.*6906G>T (n.*6906G>T) c.745-4248G>T (n.745-4248G>T) c.152-4248G>T n.278G>T c.7001G>T (p.Arg2334Met) c.6806G>T (p.Arg2269Met) c.6974G>T (p.Arg2325Met) | |
16 | g.89279439C= | CA2241586721 | ANKRD11 | c.7103G= (p.Arg2368=) c.*6906G= (n.*6906G=) c.745-4248G= (n.745-4248G=) c.152-4248G= n.278G= c.7001G= (p.Arg2334=) c.6806G= (p.Arg2269=) c.6974G= (p.Arg2325=) | |
16 | g.89279439C>G | CA397149323 | ANKRD11 | c.7103G>C (p.Arg2368Thr) c.*6906G>C (n.*6906G>C) c.745-4248G>C (n.745-4248G>C) c.152-4248G>C n.278G>C c.7001G>C (p.Arg2334Thr) c.6806G>C (p.Arg2269Thr) c.6974G>C (p.Arg2325Thr) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89279439C>T | CA286509514 | ANKRD11 | c.7103G>A (p.Arg2368Lys) c.*6906G>A (n.*6906G>A) c.745-4248G>A (n.745-4248G>A) c.152-4248G>A n.278G>A c.7001G>A (p.Arg2334Lys) c.6806G>A (p.Arg2269Lys) c.6974G>A (p.Arg2325Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279440T>A | CA397149324 | ANKRD11 | c.7102A>T (p.Arg2368Trp) c.*6905A>T (n.*6905A>T) c.745-4249A>T (n.745-4249A>T) c.152-4249A>T n.277A>T c.7000A>T (p.Arg2334Trp) c.6805A>T (p.Arg2269Trp) c.6973A>T (p.Arg2325Trp) | |
16 | g.89279440T>C | CA397149325 | ANKRD11 | c.7102A>G (p.Arg2368Gly) c.*6905A>G (n.*6905A>G) c.745-4249A>G (n.745-4249A>G) c.152-4249A>G n.277A>G c.7000A>G (p.Arg2334Gly) c.6805A>G (p.Arg2269Gly) c.6973A>G (p.Arg2325Gly) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89279440T>G | CA497372702 | ANKRD11 | c.7102A>C (p.Arg2368=) c.*6905A>C (n.*6905A>C) c.745-4249A>C (n.745-4249A>C) c.152-4249A>C n.277A>C c.7000A>C (p.Arg2334=) c.6805A>C (p.Arg2269=) c.6973A>C (p.Arg2325=) | gnomAD v3 gnomAD v4 |
16 | g.89279440T= | CA2241586722 | ANKRD11 | c.7102A= (p.Arg2368=) c.*6905A= (n.*6905A=) c.745-4249A= (n.745-4249A=) c.152-4249A= n.277A= c.7000A= (p.Arg2334=) c.6805A= (p.Arg2269=) c.6973A= (p.Arg2325=) | |
16 | g.89279441G>A | CA497372703 | ANKRD11 | c.7101C>T (p.Thr2367=) c.*6904C>T (n.*6904C>T) c.745-4250C>T (n.745-4250C>T) c.152-4250C>T n.276C>T c.6999C>T (p.Thr2333=) c.6804C>T (p.Thr2268=) c.6972C>T (p.Thr2324=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89279441G>C | CA497372704 | ANKRD11 | c.7101C>G (p.Thr2367=) c.*6904C>G (n.*6904C>G) c.745-4250C>G (n.745-4250C>G) c.152-4250C>G n.276C>G c.6999C>G (p.Thr2333=) c.6804C>G (p.Thr2268=) c.6972C>G (p.Thr2324=) | |
16 | g.89279441G= | CA2241586723 | ANKRD11 | c.7101C= (p.Thr2367=) c.*6904C= (n.*6904C=) c.745-4250C= (n.745-4250C=) c.152-4250C= n.276C= c.6999C= (p.Thr2333=) c.6804C= (p.Thr2268=) c.6972C= (p.Thr2324=) | |
16 | g.89279441G>T | CA497372705 | ANKRD11 | c.7101C>A (p.Thr2367=) c.*6904C>A (n.*6904C>A) c.745-4250C>A (n.745-4250C>A) c.152-4250C>A n.276C>A c.6999C>A (p.Thr2333=) c.6804C>A (p.Thr2268=) c.6972C>A (p.Thr2324=) | |
16 | g.89279442G>A | CA397149326 | ANKRD11 | c.7100C>T (p.Thr2367Ile) c.*6903C>T (n.*6903C>T) c.745-4251C>T (n.745-4251C>T) c.152-4251C>T n.275C>T c.6998C>T (p.Thr2333Ile) c.6803C>T (p.Thr2268Ile) c.6971C>T (p.Thr2324Ile) | dbSNP |
16 | g.89279442G>C | CA397149327 | ANKRD11 | c.7100C>G (p.Thr2367Ser) c.*6903C>G (n.*6903C>G) c.745-4251C>G (n.745-4251C>G) c.152-4251C>G n.275C>G c.6998C>G (p.Thr2333Ser) c.6803C>G (p.Thr2268Ser) c.6971C>G (p.Thr2324Ser) | gnomAD v4 |
16 | g.89279442G= | CA2241586724 | ANKRD11 | c.7100C= (p.Thr2367=) c.*6903C= (n.*6903C=) c.745-4251C= (n.745-4251C=) c.152-4251C= n.275C= c.6998C= (p.Thr2333=) c.6803C= (p.Thr2268=) c.6971C= (p.Thr2324=) | |
16 | g.89279442G>T | CA397149328 | ANKRD11 | c.7100C>A (p.Thr2367Asn) c.*6903C>A (n.*6903C>A) c.745-4251C>A (n.745-4251C>A) c.152-4251C>A n.275C>A c.6998C>A (p.Thr2333Asn) c.6803C>A (p.Thr2268Asn) c.6971C>A (p.Thr2324Asn) | |
16 | g.89279443T>A | CA397149329 | ANKRD11 | c.7099A>T (p.Thr2367Ser) c.*6902A>T (n.*6902A>T) c.745-4252A>T (n.745-4252A>T) c.152-4252A>T n.274A>T c.6997A>T (p.Thr2333Ser) c.6802A>T (p.Thr2268Ser) c.6970A>T (p.Thr2324Ser) | gnomAD v4 |
16 | g.89279443T>C | CA397149330 | ANKRD11 | c.7099A>G (p.Thr2367Ala) c.*6902A>G (n.*6902A>G) c.745-4252A>G (n.745-4252A>G) c.152-4252A>G n.274A>G c.6997A>G (p.Thr2333Ala) c.6802A>G (p.Thr2268Ala) c.6970A>G (p.Thr2324Ala) | gnomAD v4 |
16 | g.89279443T>G | CA397149331 | ANKRD11 | c.7099A>C (p.Thr2367Pro) c.*6902A>C (n.*6902A>C) c.745-4252A>C (n.745-4252A>C) c.152-4252A>C n.274A>C c.6997A>C (p.Thr2333Pro) c.6802A>C (p.Thr2268Pro) c.6970A>C (p.Thr2324Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279443T= | CA2241586725 | ANKRD11 | c.7099A= (p.Thr2367=) c.*6902A= (n.*6902A=) c.745-4252A= (n.745-4252A=) c.152-4252A= n.274A= c.6997A= (p.Thr2333=) c.6802A= (p.Thr2268=) c.6970A= (p.Thr2324=) | |
16 | g.89279444G>A | CA497372710 | ANKRD11 | c.7098C>T (p.Val2366=) c.*6901C>T (n.*6901C>T) c.745-4253C>T (n.745-4253C>T) c.152-4253C>T n.273C>T c.6996C>T (p.Val2332=) c.6801C>T (p.Val2267=) c.6969C>T (p.Val2323=) | gnomAD v4 |
16 | g.89279444G>C | CA286509517 | ANKRD11 | c.7098C>G (p.Val2366=) c.*6901C>G (n.*6901C>G) c.745-4253C>G (n.745-4253C>G) c.152-4253C>G n.273C>G c.6996C>G (p.Val2332=) c.6801C>G (p.Val2267=) c.6969C>G (p.Val2323=) | ClinVar dbSNP gnomAD v4 |
16 | g.89279444G= | CA2241586726 | ANKRD11 | c.7098C= (p.Val2366=) c.*6901C= (n.*6901C=) c.745-4253C= (n.745-4253C=) c.152-4253C= n.273C= c.6996C= (p.Val2332=) c.6801C= (p.Val2267=) c.6969C= (p.Val2323=) | |
16 | g.89279444G>T | CA497372712 | ANKRD11 | c.7098C>A (p.Val2366=) c.*6901C>A (n.*6901C>A) c.745-4253C>A (n.745-4253C>A) c.152-4253C>A n.273C>A c.6996C>A (p.Val2332=) c.6801C>A (p.Val2267=) c.6969C>A (p.Val2323=) | gnomAD v4 |
16 | g.89279445_89279454del | CA2695223895 | ANKRD11 | c.7089_7098del (p.Ala2364ProfsTer?) c.*6892_*6901del (n.*6892_*6901del) c.745-4262_745-4253del (n.745-4262_745-4253del) c.152-4262_152-4253del n.264_273del c.6987_6996del (p.Ala2330ProfsTer?) c.6792_6801del (p.Ala2265ProfsTer?) c.6960_6969del (p.Ala2321ProfsTer?) | |
16 | g.89279445A= | CA2241586727 | ANKRD11 | c.7097T= (p.Val2366=) c.*6900T= (n.*6900T=) c.745-4254T= (n.745-4254T=) c.152-4254T= n.272T= c.6995T= (p.Val2332=) c.6800T= (p.Val2267=) c.6968T= (p.Val2323=) | |
16 | g.89279445A>C | CA397149334 | ANKRD11 | c.7097T>G (p.Val2366Gly) c.*6900T>G (n.*6900T>G) c.745-4254T>G (n.745-4254T>G) c.152-4254T>G n.272T>G c.6995T>G (p.Val2332Gly) c.6800T>G (p.Val2267Gly) c.6968T>G (p.Val2323Gly) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89279445A>G | CA397149333 | ANKRD11 | c.7097T>C (p.Val2366Ala) c.*6900T>C (n.*6900T>C) c.745-4254T>C (n.745-4254T>C) c.152-4254T>C n.272T>C c.6995T>C (p.Val2332Ala) c.6800T>C (p.Val2267Ala) c.6968T>C (p.Val2323Ala) | |
16 | g.89279445A>T | CA397149332 | ANKRD11 | c.7097T>A (p.Val2366Asp) c.*6900T>A (n.*6900T>A) c.745-4254T>A (n.745-4254T>A) c.152-4254T>A n.272T>A c.6995T>A (p.Val2332Asp) c.6800T>A (p.Val2267Asp) c.6968T>A (p.Val2323Asp) | |
16 | g.89279446C>A | CA397149335 | ANKRD11 | c.7096G>T (p.Val2366Phe) c.*6899G>T (n.*6899G>T) c.745-4255G>T (n.745-4255G>T) c.152-4255G>T n.271G>T c.6994G>T (p.Val2332Phe) c.6799G>T (p.Val2267Phe) c.6967G>T (p.Val2323Phe) | |
16 | g.89279446C>G | CA397149336 | ANKRD11 | c.7096G>C (p.Val2366Leu) c.*6899G>C (n.*6899G>C) c.745-4255G>C (n.745-4255G>C) c.152-4255G>C n.271G>C c.6994G>C (p.Val2332Leu) c.6799G>C (p.Val2267Leu) c.6967G>C (p.Val2323Leu) | gnomAD v4 |
16 | g.89279446C>T | CA397149337 | ANKRD11 | c.7096G>A (p.Val2366Ile) c.*6899G>A (n.*6899G>A) c.745-4255G>A (n.745-4255G>A) c.152-4255G>A n.271G>A c.6994G>A (p.Val2332Ile) c.6799G>A (p.Val2267Ile) c.6967G>A (p.Val2323Ile) | |
16 | g.89279447C>A | CA497372717 | ANKRD11 | c.7095G>T (p.Pro2365=) c.*6898G>T (n.*6898G>T) c.745-4256G>T (n.745-4256G>T) c.152-4256G>T n.270G>T c.6993G>T (p.Pro2331=) c.6798G>T (p.Pro2266=) c.6966G>T (p.Pro2322=) | |
16 | g.89279447C= | CA2241586728 | ANKRD11 | c.7095G= (p.Pro2365=) c.*6898G= (n.*6898G=) c.745-4256G= (n.745-4256G=) c.152-4256G= n.270G= c.6993G= (p.Pro2331=) c.6798G= (p.Pro2266=) c.6966G= (p.Pro2322=) | |
16 | g.89279447C>G | CA497372718 | ANKRD11 | c.7095G>C (p.Pro2365=) c.*6898G>C (n.*6898G>C) c.745-4256G>C (n.745-4256G>C) c.152-4256G>C n.270G>C c.6993G>C (p.Pro2331=) c.6798G>C (p.Pro2266=) c.6966G>C (p.Pro2322=) | ClinVar gnomAD v4 |
16 | g.89279447C>T | CA497372719 | ANKRD11 | c.7095G>A (p.Pro2365=) c.*6898G>A (n.*6898G>A) c.745-4256G>A (n.745-4256G>A) c.152-4256G>A n.270G>A c.6993G>A (p.Pro2331=) c.6798G>A (p.Pro2266=) c.6966G>A (p.Pro2322=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.89279447_89279448insA | CA2634941093 | ANKRD11 | c.7094_7095insT (p.Val2366GlyfsTer?) c.*6897_*6898insT (n.*6897_*6898insT) c.745-4257_745-4256insT (n.745-4257_745-4256insT) c.152-4257_152-4256insT n.269_270insT c.6992_6993insT (p.Val2332GlyfsTer?) c.6797_6798insT (p.Val2267GlyfsTer?) c.6965_6966insT (p.Val2323GlyfsTer?) | gnomAD v4 |
16 | g.89279448G>A | CA397149338 | ANKRD11 | c.7094C>T (p.Pro2365Leu) c.*6897C>T (n.*6897C>T) c.745-4257C>T (n.745-4257C>T) c.152-4257C>T n.269C>T c.6992C>T (p.Pro2331Leu) c.6797C>T (p.Pro2266Leu) c.6965C>T (p.Pro2322Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.89279448G>C | CA397149339 | ANKRD11 | c.7094C>G (p.Pro2365Arg) c.*6897C>G (n.*6897C>G) c.745-4257C>G (n.745-4257C>G) c.152-4257C>G n.269C>G c.6992C>G (p.Pro2331Arg) c.6797C>G (p.Pro2266Arg) c.6965C>G (p.Pro2322Arg) | gnomAD v4 |
16 | g.89279448G= | CA2241586729 | ANKRD11 | c.7094C= (p.Pro2365=) c.*6897C= (n.*6897C=) c.745-4257C= (n.745-4257C=) c.152-4257C= n.269C= c.6992C= (p.Pro2331=) c.6797C= (p.Pro2266=) c.6965C= (p.Pro2322=) | |
16 | g.89279448G>T | CA397149340 | ANKRD11 | c.7094C>A (p.Pro2365Gln) c.*6897C>A (n.*6897C>A) c.745-4257C>A (n.745-4257C>A) c.152-4257C>A n.269C>A c.6992C>A (p.Pro2331Gln) c.6797C>A (p.Pro2266Gln) c.6965C>A (p.Pro2322Gln) | gnomAD v4 |
16 | g.89279449G>A | CA397149343 | ANKRD11 | c.7093C>T (p.Pro2365Ser) c.*6896C>T (n.*6896C>T) c.745-4258C>T (n.745-4258C>T) c.152-4258C>T n.268C>T c.6991C>T (p.Pro2331Ser) c.6796C>T (p.Pro2266Ser) c.6964C>T (p.Pro2322Ser) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89279449G>C | CA397149342 | ANKRD11 | c.7093C>G (p.Pro2365Ala) c.*6896C>G (n.*6896C>G) c.745-4258C>G (n.745-4258C>G) c.152-4258C>G n.268C>G c.6991C>G (p.Pro2331Ala) c.6796C>G (p.Pro2266Ala) c.6964C>G (p.Pro2322Ala) | |
16 | g.89279449G= | CA2241586730 | ANKRD11 | c.7093C= (p.Pro2365=) c.*6896C= (n.*6896C=) c.745-4258C= (n.745-4258C=) c.152-4258C= n.268C= c.6991C= (p.Pro2331=) c.6796C= (p.Pro2266=) c.6964C= (p.Pro2322=) | |
16 | g.89279449G>T | CA397149341 | ANKRD11 | c.7093C>A (p.Pro2365Thr) c.*6896C>A (n.*6896C>A) c.745-4258C>A (n.745-4258C>A) c.152-4258C>A n.268C>A c.6991C>A (p.Pro2331Thr) c.6796C>A (p.Pro2266Thr) c.6964C>A (p.Pro2322Thr) | gnomAD v4 |
16 | g.89279450G>A | CA497372724 | ANKRD11 | c.7092C>T (p.Ala2364=) c.*6895C>T (n.*6895C>T) c.745-4259C>T (n.745-4259C>T) c.152-4259C>T n.267C>T c.6990C>T (p.Ala2330=) c.6795C>T (p.Ala2265=) c.6963C>T (p.Ala2321=) | gnomAD v4 |
16 | g.89279450G>C | CA497372728 | ANKRD11 | c.7092C>G (p.Ala2364=) c.*6895C>G (n.*6895C>G) c.745-4259C>G (n.745-4259C>G) c.152-4259C>G n.267C>G c.6990C>G (p.Ala2330=) c.6795C>G (p.Ala2265=) c.6963C>G (p.Ala2321=) | gnomAD v3 gnomAD v4 |
16 | g.89279450G>T | CA497372726 | ANKRD11 | c.7092C>A (p.Ala2364=) c.*6895C>A (n.*6895C>A) c.745-4259C>A (n.745-4259C>A) c.152-4259C>A n.267C>A c.6990C>A (p.Ala2330=) c.6795C>A (p.Ala2265=) c.6963C>A (p.Ala2321=) | |
16 | g.89279451G>A | CA397149345 | ANKRD11 | c.7091C>T (p.Ala2364Val) c.*6894C>T (n.*6894C>T) c.745-4260C>T (n.745-4260C>T) c.152-4260C>T n.266C>T c.6989C>T (p.Ala2330Val) c.6794C>T (p.Ala2265Val) c.6962C>T (p.Ala2321Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279451G>C | CA397149347 | ANKRD11 | c.7091C>G (p.Ala2364Gly) c.*6894C>G (n.*6894C>G) c.745-4260C>G (n.745-4260C>G) c.152-4260C>G n.266C>G c.6989C>G (p.Ala2330Gly) c.6794C>G (p.Ala2265Gly) c.6962C>G (p.Ala2321Gly) | ClinVar gnomAD v4 |
16 | g.89279451G= | CA2241586731 | ANKRD11 | c.7091C= (p.Ala2364=) c.*6894C= (n.*6894C=) c.745-4260C= (n.745-4260C=) c.152-4260C= n.266C= c.6989C= (p.Ala2330=) c.6794C= (p.Ala2265=) c.6962C= (p.Ala2321=) | |
16 | g.89279451G>T | CA397149348 | ANKRD11 | c.7091C>A (p.Ala2364Asp) c.*6894C>A (n.*6894C>A) c.745-4260C>A (n.745-4260C>A) c.152-4260C>A n.266C>A c.6989C>A (p.Ala2330Asp) c.6794C>A (p.Ala2265Asp) c.6962C>A (p.Ala2321Asp) | gnomAD v4 |
16 | g.89279452C>A | CA286509521 | ANKRD11 | c.7090G>T (p.Ala2364Ser) c.*6893G>T (n.*6893G>T) c.745-4261G>T (n.745-4261G>T) c.152-4261G>T n.265G>T c.6988G>T (p.Ala2330Ser) c.6793G>T (p.Ala2265Ser) c.6961G>T (p.Ala2321Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279452C= | CA2241586732 | ANKRD11 | c.7090G= (p.Ala2364=) c.*6893G= (n.*6893G=) c.745-4261G= (n.745-4261G=) c.152-4261G= n.265G= c.6988G= (p.Ala2330=) c.6793G= (p.Ala2265=) c.6961G= (p.Ala2321=) | |
16 | g.89279452C>G | CA397149349 | ANKRD11 | c.7090G>C (p.Ala2364Pro) c.*6893G>C (n.*6893G>C) c.745-4261G>C (n.745-4261G>C) c.152-4261G>C n.265G>C c.6988G>C (p.Ala2330Pro) c.6793G>C (p.Ala2265Pro) c.6961G>C (p.Ala2321Pro) | gnomAD v4 |
16 | g.89279452C>T | CA397149350 | ANKRD11 | c.7090G>A (p.Ala2364Thr) c.*6893G>A (n.*6893G>A) c.745-4261G>A (n.745-4261G>A) c.152-4261G>A n.265G>A c.6988G>A (p.Ala2330Thr) c.6793G>A (p.Ala2265Thr) c.6961G>A (p.Ala2321Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.89279452_89279453insCA | CA2634941113 | ANKRD11 | c.7089_7090insTG (p.Ala2364TrpfsTer?) c.*6892_*6893insTG (n.*6892_*6893insTG) c.745-4262_745-4261insTG (n.745-4262_745-4261insTG) c.152-4262_152-4261insTG n.264_265insTG c.6987_6988insTG (p.Ala2330TrpfsTer?) c.6792_6793insTG (p.Ala2265TrpfsTer?) c.6960_6961insTG (p.Ala2321TrpfsTer?) | gnomAD v4 |
16 | g.89279453A= | CA2241586733 | ANKRD11 | c.7089T= (p.Pro2363=) c.*6892T= (n.*6892T=) c.745-4262T= (n.745-4262T=) c.152-4262T= n.264T= c.6987T= (p.Pro2329=) c.6792T= (p.Pro2264=) c.6960T= (p.Pro2320=) | |
16 | g.89279453A>C | CA497372732 | ANKRD11 | c.7089T>G (p.Pro2363=) c.*6892T>G (n.*6892T>G) c.745-4262T>G (n.745-4262T>G) c.152-4262T>G n.264T>G c.6987T>G (p.Pro2329=) c.6792T>G (p.Pro2264=) c.6960T>G (p.Pro2320=) | gnomAD v4 |
16 | g.89279453A>G | CA497372733 | ANKRD11 | c.7089T>C (p.Pro2363=) c.*6892T>C (n.*6892T>C) c.745-4262T>C (n.745-4262T>C) c.152-4262T>C n.264T>C c.6987T>C (p.Pro2329=) c.6792T>C (p.Pro2264=) c.6960T>C (p.Pro2320=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89279453A>T | CA497372735 | ANKRD11 | c.7089T>A (p.Pro2363=) c.*6892T>A (n.*6892T>A) c.745-4262T>A (n.745-4262T>A) c.152-4262T>A n.264T>A c.6987T>A (p.Pro2329=) c.6792T>A (p.Pro2264=) c.6960T>A (p.Pro2320=) | gnomAD v4 |
16 | g.89279454G>A | CA397149351 | ANKRD11 | c.7088C>T (p.Pro2363Leu) c.*6891C>T (n.*6891C>T) c.745-4263C>T (n.745-4263C>T) c.152-4263C>T n.263C>T c.6986C>T (p.Pro2329Leu) c.6791C>T (p.Pro2264Leu) c.6959C>T (p.Pro2320Leu) | dbSNP gnomAD v4 |
16 | g.89279454G>C | CA397149353 | ANKRD11 | c.7088C>G (p.Pro2363Arg) c.*6891C>G (n.*6891C>G) c.745-4263C>G (n.745-4263C>G) c.152-4263C>G n.263C>G c.6986C>G (p.Pro2329Arg) c.6791C>G (p.Pro2264Arg) c.6959C>G (p.Pro2320Arg) | gnomAD v4 |
16 | g.89279454G= | CA2241586734 | ANKRD11 | c.7088C= (p.Pro2363=) c.*6891C= (n.*6891C=) c.745-4263C= (n.745-4263C=) c.152-4263C= n.263C= c.6986C= (p.Pro2329=) c.6791C= (p.Pro2264=) c.6959C= (p.Pro2320=) | |
16 | g.89279454G>T | CA397149352 | ANKRD11 | c.7088C>A (p.Pro2363His) c.*6891C>A (n.*6891C>A) c.745-4263C>A (n.745-4263C>A) c.152-4263C>A n.263C>A c.6986C>A (p.Pro2329His) c.6791C>A (p.Pro2264His) c.6959C>A (p.Pro2320His) | |
16 | g.89279455G>A | CA397149354 | ANKRD11 | c.7087C>T (p.Pro2363Ser) c.*6890C>T (n.*6890C>T) c.745-4264C>T (n.745-4264C>T) c.152-4264C>T n.262C>T c.6985C>T (p.Pro2329Ser) c.6790C>T (p.Pro2264Ser) c.6958C>T (p.Pro2320Ser) | dbSNP gnomAD v4 |
16 | g.89279455G>C | CA8241296 | ANKRD11 | c.7087C>G (p.Pro2363Ala) c.*6890C>G (n.*6890C>G) c.745-4264C>G (n.745-4264C>G) c.152-4264C>G n.262C>G c.6985C>G (p.Pro2329Ala) c.6790C>G (p.Pro2264Ala) c.6958C>G (p.Pro2320Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279455G= | CA2241586735 | ANKRD11 | c.7087C= (p.Pro2363=) c.*6890C= (n.*6890C=) c.745-4264C= (n.745-4264C=) c.152-4264C= n.262C= c.6985C= (p.Pro2329=) c.6790C= (p.Pro2264=) c.6958C= (p.Pro2320=) | |
16 | g.89279455G>T | CA397149355 | ANKRD11 | c.7087C>A (p.Pro2363Thr) c.*6890C>A (n.*6890C>A) c.745-4264C>A (n.745-4264C>A) c.152-4264C>A n.262C>A c.6985C>A (p.Pro2329Thr) c.6790C>A (p.Pro2264Thr) c.6958C>A (p.Pro2320Thr) | |
16 | g.89279456G>A | CA497372742 | ANKRD11 | c.7086C>T (p.Thr2362=) c.*6889C>T (n.*6889C>T) c.745-4265C>T (n.745-4265C>T) c.152-4265C>T n.261C>T c.6984C>T (p.Thr2328=) c.6789C>T (p.Thr2263=) c.6957C>T (p.Thr2319=) | dbSNP gnomAD v4 |
16 | g.89279456G>C | CA497372744 | ANKRD11 | c.7086C>G (p.Thr2362=) c.*6889C>G (n.*6889C>G) c.745-4265C>G (n.745-4265C>G) c.152-4265C>G n.261C>G c.6984C>G (p.Thr2328=) c.6789C>G (p.Thr2263=) c.6957C>G (p.Thr2319=) | dbSNP |
16 | g.89279456G= | CA2241586736 | ANKRD11 | c.7086C= (p.Thr2362=) c.*6889C= (n.*6889C=) c.745-4265C= (n.745-4265C=) c.152-4265C= n.261C= c.6984C= (p.Thr2328=) c.6789C= (p.Thr2263=) c.6957C= (p.Thr2319=) | |
16 | g.89279456G>T | CA497372743 | ANKRD11 | c.7086C>A (p.Thr2362=) c.*6889C>A (n.*6889C>A) c.745-4265C>A (n.745-4265C>A) c.152-4265C>A n.261C>A c.6984C>A (p.Thr2328=) c.6789C>A (p.Thr2263=) c.6957C>A (p.Thr2319=) | |
16 | g.89279457G>A | CA397149356 | ANKRD11 | c.7085C>T (p.Thr2362Ile) c.*6888C>T (n.*6888C>T) c.745-4266C>T (n.745-4266C>T) c.152-4266C>T n.260C>T c.6983C>T (p.Thr2328Ile) c.6788C>T (p.Thr2263Ile) c.6956C>T (p.Thr2319Ile) | |
16 | g.89279457G>C | CA397149357 | ANKRD11 | c.7085C>G (p.Thr2362Ser) c.*6888C>G (n.*6888C>G) c.745-4266C>G (n.745-4266C>G) c.152-4266C>G n.260C>G c.6983C>G (p.Thr2328Ser) c.6788C>G (p.Thr2263Ser) c.6956C>G (p.Thr2319Ser) | |
16 | g.89279457G>T | CA397149358 | ANKRD11 | c.7085C>A (p.Thr2362Asn) c.*6888C>A (n.*6888C>A) c.745-4266C>A (n.745-4266C>A) c.152-4266C>A n.260C>A c.6983C>A (p.Thr2328Asn) c.6788C>A (p.Thr2263Asn) c.6956C>A (p.Thr2319Asn) | |
16 | g.89279458T>A | CA397149359 | ANKRD11 | c.7084A>T (p.Thr2362Ser) c.*6887A>T (n.*6887A>T) c.745-4267A>T (n.745-4267A>T) c.152-4267A>T n.259A>T c.6982A>T (p.Thr2328Ser) c.6787A>T (p.Thr2263Ser) c.6955A>T (p.Thr2319Ser) | |
16 | g.89279458T>C | CA397149360 | ANKRD11 | c.7084A>G (p.Thr2362Ala) c.*6887A>G (n.*6887A>G) c.745-4267A>G (n.745-4267A>G) c.152-4267A>G n.259A>G c.6982A>G (p.Thr2328Ala) c.6787A>G (p.Thr2263Ala) c.6955A>G (p.Thr2319Ala) | dbSNP |
16 | g.89279458T>G | CA397149361 | ANKRD11 | c.7084A>C (p.Thr2362Pro) c.*6887A>C (n.*6887A>C) c.745-4267A>C (n.745-4267A>C) c.152-4267A>C n.259A>C c.6982A>C (p.Thr2328Pro) c.6787A>C (p.Thr2263Pro) c.6955A>C (p.Thr2319Pro) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89279458T= | CA2241586737 | ANKRD11 | c.7084A= (p.Thr2362=) c.*6887A= (n.*6887A=) c.745-4267A= (n.745-4267A=) c.152-4267A= n.259A= c.6982A= (p.Thr2328=) c.6787A= (p.Thr2263=) c.6955A= (p.Thr2319=) | |
16 | g.89279459G>A | CA497372748 | ANKRD11 | c.7083C>T (p.Pro2361=) c.*6886C>T (n.*6886C>T) c.745-4268C>T (n.745-4268C>T) c.152-4268C>T n.258C>T c.6981C>T (p.Pro2327=) c.6786C>T (p.Pro2262=) c.6954C>T (p.Pro2318=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279459G>C | CA497372749 | ANKRD11 | c.7083C>G (p.Pro2361=) c.*6886C>G (n.*6886C>G) c.745-4268C>G (n.745-4268C>G) c.152-4268C>G n.258C>G c.6981C>G (p.Pro2327=) c.6786C>G (p.Pro2262=) c.6954C>G (p.Pro2318=) | |
16 | g.89279459G= | CA2241586738 | ANKRD11 | c.7083C= (p.Pro2361=) c.*6886C= (n.*6886C=) c.745-4268C= (n.745-4268C=) c.152-4268C= n.258C= c.6981C= (p.Pro2327=) c.6786C= (p.Pro2262=) c.6954C= (p.Pro2318=) | |
16 | g.89279459G>T | CA497372750 | ANKRD11 | c.7083C>A (p.Pro2361=) c.*6886C>A (n.*6886C>A) c.745-4268C>A (n.745-4268C>A) c.152-4268C>A n.258C>A c.6981C>A (p.Pro2327=) c.6786C>A (p.Pro2262=) c.6954C>A (p.Pro2318=) | ClinVar dbSNP gnomAD v4 |
16 | g.89279463dup | CA10603284 | ANKRD11 | c.7083dup (p.Thr2362HisfsTer?) c.*6886dup (n.*6886dup) c.745-4268dup (n.745-4268dup) c.152-4268dup n.258dup c.6981dup (p.Thr2328HisfsTer?) c.6786dup (p.Thr2263HisfsTer?) c.6954dup (p.Thr2319HisfsTer?) | ClinVar dbSNP |
16 | g.89279463del | CA2695223897 | ANKRD11 | c.7083del (p.Thr2362ProfsTer?) c.*6886del (n.*6886del) c.745-4268del (n.745-4268del) c.152-4268del n.258del c.6981del (p.Thr2328ProfsTer?) c.6786del (p.Thr2263ProfsTer?) c.6954del (p.Thr2319ProfsTer?) | |
16 | g.89279460G>A | CA397149362 | ANKRD11 | c.7082C>T (p.Pro2361Leu) c.*6885C>T (n.*6885C>T) c.745-4269C>T (n.745-4269C>T) c.152-4269C>T n.257C>T c.6980C>T (p.Pro2327Leu) c.6785C>T (p.Pro2262Leu) c.6953C>T (p.Pro2318Leu) | dbSNP |
16 | g.89279460G>C | CA397149363 | ANKRD11 | c.7082C>G (p.Pro2361Arg) c.*6885C>G (n.*6885C>G) c.745-4269C>G (n.745-4269C>G) c.152-4269C>G n.257C>G c.6980C>G (p.Pro2327Arg) c.6785C>G (p.Pro2262Arg) c.6953C>G (p.Pro2318Arg) | |
16 | g.89279460G= | CA2241586739 | ANKRD11 | c.7082C= (p.Pro2361=) c.*6885C= (n.*6885C=) c.745-4269C= (n.745-4269C=) c.152-4269C= n.257C= c.6980C= (p.Pro2327=) c.6785C= (p.Pro2262=) c.6953C= (p.Pro2318=) | |
16 | g.89279460G>T | CA397149364 | ANKRD11 | c.7082C>A (p.Pro2361His) c.*6885C>A (n.*6885C>A) c.745-4269C>A (n.745-4269C>A) c.152-4269C>A n.257C>A c.6980C>A (p.Pro2327His) c.6785C>A (p.Pro2262His) c.6953C>A (p.Pro2318His) | |
16 | g.89279461G>A | CA397149365 | ANKRD11 | c.7081C>T (p.Pro2361Ser) c.*6884C>T (n.*6884C>T) c.745-4270C>T (n.745-4270C>T) c.152-4270C>T n.256C>T c.6979C>T (p.Pro2327Ser) c.6784C>T (p.Pro2262Ser) c.6952C>T (p.Pro2318Ser) | |
16 | g.89279461G>C | CA397149367 | ANKRD11 | c.7081C>G (p.Pro2361Ala) c.*6884C>G (n.*6884C>G) c.745-4270C>G (n.745-4270C>G) c.152-4270C>G n.256C>G c.6979C>G (p.Pro2327Ala) c.6784C>G (p.Pro2262Ala) c.6952C>G (p.Pro2318Ala) | |
16 | g.89279461G>T | CA397149366 | ANKRD11 | c.7081C>A (p.Pro2361Thr) c.*6884C>A (n.*6884C>A) c.745-4270C>A (n.745-4270C>A) c.152-4270C>A n.256C>A c.6979C>A (p.Pro2327Thr) c.6784C>A (p.Pro2262Thr) c.6952C>A (p.Pro2318Thr) | |
16 | g.89279462G>A | CA497372754 | ANKRD11 | c.7080C>T (p.Ala2360=) c.*6883C>T (n.*6883C>T) c.745-4271C>T (n.745-4271C>T) c.152-4271C>T n.255C>T c.6978C>T (p.Ala2326=) c.6783C>T (p.Ala2261=) c.6951C>T (p.Ala2317=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279462G>C | CA497372755 | ANKRD11 | c.7080C>G (p.Ala2360=) c.*6883C>G (n.*6883C>G) c.745-4271C>G (n.745-4271C>G) c.152-4271C>G n.255C>G c.6978C>G (p.Ala2326=) c.6783C>G (p.Ala2261=) c.6951C>G (p.Ala2317=) | |
16 | g.89279462G= | CA2241586740 | ANKRD11 | c.7080C= (p.Ala2360=) c.*6883C= (n.*6883C=) c.745-4271C= (n.745-4271C=) c.152-4271C= n.255C= c.6978C= (p.Ala2326=) c.6783C= (p.Ala2261=) c.6951C= (p.Ala2317=) | |
16 | g.89279462G>T | CA497372756 | ANKRD11 | c.7080C>A (p.Ala2360=) c.*6883C>A (n.*6883C>A) c.745-4271C>A (n.745-4271C>A) c.152-4271C>A n.255C>A c.6978C>A (p.Ala2326=) c.6783C>A (p.Ala2261=) c.6951C>A (p.Ala2317=) | |
16 | g.89279463G>A | CA397149368 | ANKRD11 | c.7079C>T (p.Ala2360Val) c.*6882C>T (n.*6882C>T) c.745-4272C>T (n.745-4272C>T) c.152-4272C>T n.254C>T c.6977C>T (p.Ala2326Val) c.6782C>T (p.Ala2261Val) c.6950C>T (p.Ala2317Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279463G>C | CA397149369 | ANKRD11 | c.7079C>G (p.Ala2360Gly) c.*6882C>G (n.*6882C>G) c.745-4272C>G (n.745-4272C>G) c.152-4272C>G n.254C>G c.6977C>G (p.Ala2326Gly) c.6782C>G (p.Ala2261Gly) c.6950C>G (p.Ala2317Gly) | |
16 | g.89279463G= | CA2241586741 | ANKRD11 | c.7079C= (p.Ala2360=) c.*6882C= (n.*6882C=) c.745-4272C= (n.745-4272C=) c.152-4272C= n.254C= c.6977C= (p.Ala2326=) c.6782C= (p.Ala2261=) c.6950C= (p.Ala2317=) | |
16 | g.89279463G>T | CA397149370 | ANKRD11 | c.7079C>A (p.Ala2360Asp) c.*6882C>A (n.*6882C>A) c.745-4272C>A (n.745-4272C>A) c.152-4272C>A n.254C>A c.6977C>A (p.Ala2326Asp) c.6782C>A (p.Ala2261Asp) c.6950C>A (p.Ala2317Asp) | |
16 | g.89279464C>A | CA397149371 | ANKRD11 | c.7078G>T (p.Ala2360Ser) c.*6881G>T (n.*6881G>T) c.745-4273G>T (n.745-4273G>T) c.152-4273G>T n.253G>T c.6976G>T (p.Ala2326Ser) c.6781G>T (p.Ala2261Ser) c.6949G>T (p.Ala2317Ser) | gnomAD v4 |
16 | g.89279464C= | CA2241586742 | ANKRD11 | c.7078G= (p.Ala2360=) c.*6881G= (n.*6881G=) c.745-4273G= (n.745-4273G=) c.152-4273G= n.253G= c.6976G= (p.Ala2326=) c.6781G= (p.Ala2261=) c.6949G= (p.Ala2317=) | |
16 | g.89279464C>G | CA397149372 | ANKRD11 | c.7078G>C (p.Ala2360Pro) c.*6881G>C (n.*6881G>C) c.745-4273G>C (n.745-4273G>C) c.152-4273G>C n.253G>C c.6976G>C (p.Ala2326Pro) c.6781G>C (p.Ala2261Pro) c.6949G>C (p.Ala2317Pro) | dbSNP |
16 | g.89279464C>T | CA397149373 | ANKRD11 | c.7078G>A (p.Ala2360Thr) c.*6881G>A (n.*6881G>A) c.745-4273G>A (n.745-4273G>A) c.152-4273G>A n.253G>A c.6976G>A (p.Ala2326Thr) c.6781G>A (p.Ala2261Thr) c.6949G>A (p.Ala2317Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279465G>A | CA497372758 | ANKRD11 | c.7077C>T (p.Cys2359=) c.*6880C>T (n.*6880C>T) c.745-4274C>T (n.745-4274C>T) c.152-4274C>T n.252C>T c.6975C>T (p.Cys2325=) c.6780C>T (p.Cys2260=) c.6948C>T (p.Cys2316=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89279465G>C | CA397149374 | ANKRD11 | c.7077C>G (p.Cys2359Trp) c.*6880C>G (n.*6880C>G) c.745-4274C>G (n.745-4274C>G) c.152-4274C>G n.252C>G c.6975C>G (p.Cys2325Trp) c.6780C>G (p.Cys2260Trp) c.6948C>G (p.Cys2316Trp) | gnomAD v4 |
16 | g.89279465G= | CA2241586743 | ANKRD11 | c.7077C= (p.Cys2359=) c.*6880C= (n.*6880C=) c.745-4274C= (n.745-4274C=) c.152-4274C= n.252C= c.6975C= (p.Cys2325=) c.6780C= (p.Cys2260=) c.6948C= (p.Cys2316=) | |
16 | g.89279465G>T | CA397149375 | ANKRD11 | c.7077C>A (p.Cys2359Ter) c.*6880C>A (n.*6880C>A) c.745-4274C>A (n.745-4274C>A) c.152-4274C>A n.252C>A c.6975C>A (p.Cys2325Ter) c.6780C>A (p.Cys2260Ter) c.6948C>A (p.Cys2316Ter) | |
16 | g.89279466C>A | CA397149376 | ANKRD11 | c.7076G>T (p.Cys2359Phe) c.*6879G>T (n.*6879G>T) c.745-4275G>T (n.745-4275G>T) c.152-4275G>T n.251G>T c.6974G>T (p.Cys2325Phe) c.6779G>T (p.Cys2260Phe) c.6947G>T (p.Cys2316Phe) | |
16 | g.89279466C>G | CA397149377 | ANKRD11 | c.7076G>C (p.Cys2359Ser) c.*6879G>C (n.*6879G>C) c.745-4275G>C (n.745-4275G>C) c.152-4275G>C n.251G>C c.6974G>C (p.Cys2325Ser) c.6779G>C (p.Cys2260Ser) c.6947G>C (p.Cys2316Ser) | |
16 | g.89279466C>T | CA397149378 | ANKRD11 | c.7076G>A (p.Cys2359Tyr) c.*6879G>A (n.*6879G>A) c.745-4275G>A (n.745-4275G>A) c.152-4275G>A n.251G>A c.6974G>A (p.Cys2325Tyr) c.6779G>A (p.Cys2260Tyr) c.6947G>A (p.Cys2316Tyr) | |
16 | g.89279467A= | CA2241586744 | ANKRD11 | c.7075T= (p.Cys2359=) c.*6878T= (n.*6878T=) c.745-4276T= (n.745-4276T=) c.152-4276T= n.250T= c.6973T= (p.Cys2325=) c.6778T= (p.Cys2260=) c.6946T= (p.Cys2316=) | |
16 | g.89279467A>C | CA397149379 | ANKRD11 | c.7075T>G (p.Cys2359Gly) c.*6878T>G (n.*6878T>G) c.745-4276T>G (n.745-4276T>G) c.152-4276T>G n.250T>G c.6973T>G (p.Cys2325Gly) c.6778T>G (p.Cys2260Gly) c.6946T>G (p.Cys2316Gly) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89279467A>G | CA397149380 | ANKRD11 | c.7075T>C (p.Cys2359Arg) c.*6878T>C (n.*6878T>C) c.745-4276T>C (n.745-4276T>C) c.152-4276T>C n.250T>C c.6973T>C (p.Cys2325Arg) c.6778T>C (p.Cys2260Arg) c.6946T>C (p.Cys2316Arg) | gnomAD v4 |
16 | g.89279467A>T | CA397149381 | ANKRD11 | c.7075T>A (p.Cys2359Ser) c.*6878T>A (n.*6878T>A) c.745-4276T>A (n.745-4276T>A) c.152-4276T>A n.250T>A c.6973T>A (p.Cys2325Ser) c.6778T>A (p.Cys2260Ser) c.6946T>A (p.Cys2316Ser) | |
16 | g.89279468C>A | CA397149382 | ANKRD11 | c.7074G>T (p.Glu2358Asp) c.*6877G>T (n.*6877G>T) c.745-4277G>T (n.745-4277G>T) c.152-4277G>T n.249G>T c.6972G>T (p.Glu2324Asp) c.6777G>T (p.Glu2259Asp) c.6945G>T (p.Glu2315Asp) | |
16 | g.89279468C>G | CA397149383 | ANKRD11 | c.7074G>C (p.Glu2358Asp) c.*6877G>C (n.*6877G>C) c.745-4277G>C (n.745-4277G>C) c.152-4277G>C n.249G>C c.6972G>C (p.Glu2324Asp) c.6777G>C (p.Glu2259Asp) c.6945G>C (p.Glu2315Asp) | gnomAD v4 |
16 | g.89279468C>T | CA497372764 | ANKRD11 | c.7074G>A (p.Glu2358=) c.*6877G>A (n.*6877G>A) c.745-4277G>A (n.745-4277G>A) c.152-4277G>A n.249G>A c.6972G>A (p.Glu2324=) c.6777G>A (p.Glu2259=) c.6945G>A (p.Glu2315=) | |
16 | g.89279469T>A | CA397149384 | ANKRD11 | c.7073A>T (p.Glu2358Val) c.*6876A>T (n.*6876A>T) c.745-4278A>T (n.745-4278A>T) c.152-4278A>T n.248A>T c.6971A>T (p.Glu2324Val) c.6776A>T (p.Glu2259Val) c.6944A>T (p.Glu2315Val) | gnomAD v4 |
16 | g.89279469T>C | CA397149385 | ANKRD11 | c.7073A>G (p.Glu2358Gly) c.*6876A>G (n.*6876A>G) c.745-4278A>G (n.745-4278A>G) c.152-4278A>G n.248A>G c.6971A>G (p.Glu2324Gly) c.6776A>G (p.Glu2259Gly) c.6944A>G (p.Glu2315Gly) | ClinVar gnomAD v4 |
16 | g.89279469T>G | CA397149386 | ANKRD11 | c.7073A>C (p.Glu2358Ala) c.*6876A>C (n.*6876A>C) c.745-4278A>C (n.745-4278A>C) c.152-4278A>C n.248A>C c.6971A>C (p.Glu2324Ala) c.6776A>C (p.Glu2259Ala) c.6944A>C (p.Glu2315Ala) | gnomAD v4 |
16 | g.89279470C>A | CA397149387 | ANKRD11 | c.7072G>T (p.Glu2358Ter) c.*6875G>T (n.*6875G>T) c.745-4279G>T (n.745-4279G>T) c.152-4279G>T n.247G>T c.6970G>T (p.Glu2324Ter) c.6775G>T (p.Glu2259Ter) c.6943G>T (p.Glu2315Ter) | |
16 | g.89279470C>G | CA397149388 | ANKRD11 | c.7072G>C (p.Glu2358Gln) c.*6875G>C (n.*6875G>C) c.745-4279G>C (n.745-4279G>C) c.152-4279G>C n.247G>C c.6970G>C (p.Glu2324Gln) c.6775G>C (p.Glu2259Gln) c.6943G>C (p.Glu2315Gln) | |
16 | g.89279470C>T | CA397149389 | ANKRD11 | c.7072G>A (p.Glu2358Lys) c.*6875G>A (n.*6875G>A) c.745-4279G>A (n.745-4279G>A) c.152-4279G>A n.247G>A c.6970G>A (p.Glu2324Lys) c.6775G>A (p.Glu2259Lys) c.6943G>A (p.Glu2315Lys) | gnomAD v4 |
16 | g.89279470_89279473delinsCCTT | CA2241586745 | ANKRD11 | c.7069_7072delinsAAGG (p.Lys2357=) c.*6872_*6875delinsAAGG (n.*6872_*6875delinsAAGG) c.745-4282_745-4279delinsAAGG (n.745-4282_745-4279delinsAAGG) c.152-4282_152-4279delinsAAGG n.244_247delinsAAGG c.6967_6970delinsAAGG (p.Lys2323=) c.6772_6775delinsAAGG (p.Lys2258=) c.6940_6943delinsAAGG (p.Lys2314=) | |
16 | g.89279471C>A | CA8241297 | ANKRD11 | c.7071G>T (p.Lys2357Asn) c.*6874G>T (n.*6874G>T) c.745-4280G>T (n.745-4280G>T) c.152-4280G>T n.246G>T c.6969G>T (p.Lys2323Asn) c.6774G>T (p.Lys2258Asn) c.6942G>T (p.Lys2314Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89279471C= | CA2241586746 | ANKRD11 | c.7071G= (p.Lys2357=) c.*6874G= (n.*6874G=) c.745-4280G= (n.745-4280G=) c.152-4280G= n.246G= c.6969G= (p.Lys2323=) c.6774G= (p.Lys2258=) c.6942G= (p.Lys2314=) | |
16 | g.89279471C>G | CA397149390 | ANKRD11 | c.7071G>C (p.Lys2357Asn) c.*6874G>C (n.*6874G>C) c.745-4280G>C (n.745-4280G>C) c.152-4280G>C n.246G>C c.6969G>C (p.Lys2323Asn) c.6774G>C (p.Lys2258Asn) c.6942G>C (p.Lys2314Asn) | |
16 | g.89279471C>T | CA497372771 | ANKRD11 | c.7071G>A (p.Lys2357=) c.*6874G>A (n.*6874G>A) c.745-4280G>A (n.745-4280G>A) c.152-4280G>A n.246G>A c.6969G>A (p.Lys2323=) c.6774G>A (p.Lys2258=) c.6942G>A (p.Lys2314=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89279473_89279475del | CA624452350 | ANKRD11 | c.7069_7071del (p.Lys2357del) c.*6872_*6874del (n.*6872_*6874del) c.745-4282_745-4280del (n.745-4282_745-4280del) c.152-4282_152-4280del n.244_246del c.6967_6969del (p.Lys2323del) c.6772_6774del (p.Lys2258del) c.6940_6942del (p.Lys2314del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279472T>A | CA397149391 | ANKRD11 | c.7070A>T (p.Lys2357Met) c.*6873A>T (n.*6873A>T) c.745-4281A>T (n.745-4281A>T) c.152-4281A>T n.245A>T c.6968A>T (p.Lys2323Met) c.6773A>T (p.Lys2258Met) c.6941A>T (p.Lys2314Met) | |
16 | g.89279472T>C | CA397149392 | ANKRD11 | c.7070A>G (p.Lys2357Arg) c.*6873A>G (n.*6873A>G) c.745-4281A>G (n.745-4281A>G) c.152-4281A>G n.245A>G c.6968A>G (p.Lys2323Arg) c.6773A>G (p.Lys2258Arg) c.6941A>G (p.Lys2314Arg) | |
16 | g.89279472T>G | CA397149393 | ANKRD11 | c.7070A>C (p.Lys2357Thr) c.*6873A>C (n.*6873A>C) c.745-4281A>C (n.745-4281A>C) c.152-4281A>C n.245A>C c.6968A>C (p.Lys2323Thr) c.6773A>C (p.Lys2258Thr) c.6941A>C (p.Lys2314Thr) | |
16 | g.89279473T>A | CA397149396 | ANKRD11 | c.7069A>T (p.Lys2357Ter) c.*6872A>T (n.*6872A>T) c.745-4282A>T (n.745-4282A>T) c.152-4282A>T n.244A>T c.6967A>T (p.Lys2323Ter) c.6772A>T (p.Lys2258Ter) c.6940A>T (p.Lys2314Ter) | gnomAD v4 |
16 | g.89279473T>C | CA397149395 | ANKRD11 | c.7069A>G (p.Lys2357Glu) c.*6872A>G (n.*6872A>G) c.745-4282A>G (n.745-4282A>G) c.152-4282A>G n.244A>G c.6967A>G (p.Lys2323Glu) c.6772A>G (p.Lys2258Glu) c.6940A>G (p.Lys2314Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279473T>G | CA397149394 | ANKRD11 | c.7069A>C (p.Lys2357Gln) c.*6872A>C (n.*6872A>C) c.745-4282A>C (n.745-4282A>C) c.152-4282A>C n.244A>C c.6967A>C (p.Lys2323Gln) c.6772A>C (p.Lys2258Gln) c.6940A>C (p.Lys2314Gln) | gnomAD v4 |
16 | g.89279473T= | CA2241586747 | ANKRD11 | c.7069A= (p.Lys2357=) c.*6872A= (n.*6872A=) c.745-4282A= (n.745-4282A=) c.152-4282A= n.244A= c.6967A= (p.Lys2323=) c.6772A= (p.Lys2258=) c.6940A= (p.Lys2314=) | |
16 | g.89279474C>A | CA397149397 | ANKRD11 | c.7068G>T (p.Glu2356Asp) c.*6871G>T (n.*6871G>T) c.745-4283G>T (n.745-4283G>T) c.152-4283G>T n.243G>T c.6966G>T (p.Glu2322Asp) c.6771G>T (p.Glu2257Asp) c.6939G>T (p.Glu2313Asp) | |
16 | g.89279474C>G | CA397149398 | ANKRD11 | c.7068G>C (p.Glu2356Asp) c.*6871G>C (n.*6871G>C) c.745-4283G>C (n.745-4283G>C) c.152-4283G>C n.243G>C c.6966G>C (p.Glu2322Asp) c.6771G>C (p.Glu2257Asp) c.6939G>C (p.Glu2313Asp) | |
16 | g.89279474C>T | CA497372774 | ANKRD11 | c.7068G>A (p.Glu2356=) c.*6871G>A (n.*6871G>A) c.745-4283G>A (n.745-4283G>A) c.152-4283G>A n.243G>A c.6966G>A (p.Glu2322=) c.6771G>A (p.Glu2257=) c.6939G>A (p.Glu2313=) | |
16 | g.89279475T>A | CA397149399 | ANKRD11 | c.7067A>T (p.Glu2356Val) c.*6870A>T (n.*6870A>T) c.745-4284A>T (n.745-4284A>T) c.152-4284A>T n.242A>T c.6965A>T (p.Glu2322Val) c.6770A>T (p.Glu2257Val) c.6938A>T (p.Glu2313Val) | gnomAD v4 |
16 | g.89279475T>C | CA397149400 | ANKRD11 | c.7067A>G (p.Glu2356Gly) c.*6870A>G (n.*6870A>G) c.745-4284A>G (n.745-4284A>G) c.152-4284A>G n.242A>G c.6965A>G (p.Glu2322Gly) c.6770A>G (p.Glu2257Gly) c.6938A>G (p.Glu2313Gly) | gnomAD v4 |
16 | g.89279475T>G | CA397149401 | ANKRD11 | c.7067A>C (p.Glu2356Ala) c.*6870A>C (n.*6870A>C) c.745-4284A>C (n.745-4284A>C) c.152-4284A>C n.242A>C c.6965A>C (p.Glu2322Ala) c.6770A>C (p.Glu2257Ala) c.6938A>C (p.Glu2313Ala) | gnomAD v4 |
16 | g.89279476C>A | CA397149402 | ANKRD11 | c.7066G>T (p.Glu2356Ter) c.*6869G>T (n.*6869G>T) c.745-4285G>T (n.745-4285G>T) c.152-4285G>T n.241G>T c.6964G>T (p.Glu2322Ter) c.6769G>T (p.Glu2257Ter) c.6937G>T (p.Glu2313Ter) | |
16 | g.89279476C>G | CA397149403 | ANKRD11 | c.7066G>C (p.Glu2356Gln) c.*6869G>C (n.*6869G>C) c.745-4285G>C (n.745-4285G>C) c.152-4285G>C n.241G>C c.6964G>C (p.Glu2322Gln) c.6769G>C (p.Glu2257Gln) c.6937G>C (p.Glu2313Gln) | gnomAD v4 |
16 | g.89279476C>T | CA397149404 | ANKRD11 | c.7066G>A (p.Glu2356Lys) c.*6869G>A (n.*6869G>A) c.745-4285G>A (n.745-4285G>A) c.152-4285G>A n.241G>A c.6964G>A (p.Glu2322Lys) c.6769G>A (p.Glu2257Lys) c.6937G>A (p.Glu2313Lys) | |
16 | g.89279477G>A | CA497372777 | ANKRD11 | c.7065C>T (p.Ser2355=) c.*6868C>T (n.*6868C>T) c.745-4286C>T (n.745-4286C>T) c.152-4286C>T n.240C>T c.6963C>T (p.Ser2321=) c.6768C>T (p.Ser2256=) c.6936C>T (p.Ser2312=) | gnomAD v4 |
16 | g.89279477G>C | CA497372778 | ANKRD11 | c.7065C>G (p.Ser2355=) c.*6868C>G (n.*6868C>G) c.745-4286C>G (n.745-4286C>G) c.152-4286C>G n.240C>G c.6963C>G (p.Ser2321=) c.6768C>G (p.Ser2256=) c.6936C>G (p.Ser2312=) | gnomAD v4 |
16 | g.89279477G>T | CA497372779 | ANKRD11 | c.7065C>A (p.Ser2355=) c.*6868C>A (n.*6868C>A) c.745-4286C>A (n.745-4286C>A) c.152-4286C>A n.240C>A c.6963C>A (p.Ser2321=) c.6768C>A (p.Ser2256=) c.6936C>A (p.Ser2312=) | gnomAD v4 |
16 | g.89279478G>A | CA397149405 | ANKRD11 | c.7064C>T (p.Ser2355Phe) c.*6867C>T (n.*6867C>T) c.745-4287C>T (n.745-4287C>T) c.152-4287C>T n.239C>T c.6962C>T (p.Ser2321Phe) c.6767C>T (p.Ser2256Phe) c.6935C>T (p.Ser2312Phe) | |
16 | g.89279478G>C | CA397149406 | ANKRD11 | c.7064C>G (p.Ser2355Cys) c.*6867C>G (n.*6867C>G) c.745-4287C>G (n.745-4287C>G) c.152-4287C>G n.239C>G c.6962C>G (p.Ser2321Cys) c.6767C>G (p.Ser2256Cys) c.6935C>G (p.Ser2312Cys) | gnomAD v4 |
16 | g.89279478G>T | CA397149407 | ANKRD11 | c.7064C>A (p.Ser2355Tyr) c.*6867C>A (n.*6867C>A) c.745-4287C>A (n.745-4287C>A) c.152-4287C>A n.239C>A c.6962C>A (p.Ser2321Tyr) c.6767C>A (p.Ser2256Tyr) c.6935C>A (p.Ser2312Tyr) | |
16 | g.89279479A= | CA2241586749 | ANKRD11 | c.7063T= (p.Ser2355=) c.*6866T= (n.*6866T=) c.745-4288T= (n.745-4288T=) c.152-4288T= n.238T= c.6961T= (p.Ser2321=) c.6766T= (p.Ser2256=) c.6934T= (p.Ser2312=) | |
16 | g.89279479A>C | CA397149408 | ANKRD11 | c.7063T>G (p.Ser2355Ala) c.*6866T>G (n.*6866T>G) c.745-4288T>G (n.745-4288T>G) c.152-4288T>G n.238T>G c.6961T>G (p.Ser2321Ala) c.6766T>G (p.Ser2256Ala) c.6934T>G (p.Ser2312Ala) | gnomAD v4 |
16 | g.89279479A>G | CA397149409 | ANKRD11 | c.7063T>C (p.Ser2355Pro) c.*6866T>C (n.*6866T>C) c.745-4288T>C (n.745-4288T>C) c.152-4288T>C n.238T>C c.6961T>C (p.Ser2321Pro) c.6766T>C (p.Ser2256Pro) c.6934T>C (p.Ser2312Pro) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89279479A>T | CA397149410 | ANKRD11 | c.7063T>A (p.Ser2355Thr) c.*6866T>A (n.*6866T>A) c.745-4288T>A (n.745-4288T>A) c.152-4288T>A n.238T>A c.6961T>A (p.Ser2321Thr) c.6766T>A (p.Ser2256Thr) c.6934T>A (p.Ser2312Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279479_89279480delinsAG | CA2241586748 | ANKRD11 | c.7062_7063delinsCT (p.Pro2354=) c.*6865_*6866delinsCT (n.*6865_*6866delinsCT) c.745-4289_745-4288delinsCT (n.745-4289_745-4288delinsCT) c.152-4289_152-4288delinsCT n.237_238delinsCT c.6960_6961delinsCT (p.Pro2320=) c.6765_6766delinsCT (p.Pro2255=) c.6933_6934delinsCT (p.Pro2311=) | |
16 | g.89279480G>A | CA497372784 | ANKRD11 | c.7062C>T (p.Pro2354=) c.*6865C>T (n.*6865C>T) c.745-4289C>T (n.745-4289C>T) c.152-4289C>T n.237C>T c.6960C>T (p.Pro2320=) c.6765C>T (p.Pro2255=) c.6933C>T (p.Pro2311=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89279480G>C | CA497372785 | ANKRD11 | c.7062C>G (p.Pro2354=) c.*6865C>G (n.*6865C>G) c.745-4289C>G (n.745-4289C>G) c.152-4289C>G n.237C>G c.6960C>G (p.Pro2320=) c.6765C>G (p.Pro2255=) c.6933C>G (p.Pro2311=) | |
16 | g.89279480G= | CA2241586750 | ANKRD11 | c.7062C= (p.Pro2354=) c.*6865C= (n.*6865C=) c.745-4289C= (n.745-4289C=) c.152-4289C= n.237C= c.6960C= (p.Pro2320=) c.6765C= (p.Pro2255=) c.6933C= (p.Pro2311=) | |
16 | g.89279480G>T | CA497372786 | ANKRD11 | c.7062C>A (p.Pro2354=) c.*6865C>A (n.*6865C>A) c.745-4289C>A (n.745-4289C>A) c.152-4289C>A n.237C>A c.6960C>A (p.Pro2320=) c.6765C>A (p.Pro2255=) c.6933C>A (p.Pro2311=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89279485dup | CA2499223774 | ANKRD11 | c.7062dup (p.Ser2355LeufsTer?) c.*6865dup (n.*6865dup) c.745-4289dup (n.745-4289dup) c.152-4289dup n.237dup c.6960dup (p.Ser2321LeufsTer?) c.6765dup (p.Ser2256LeufsTer?) c.6933dup (p.Ser2312LeufsTer?) | ClinVar dbSNP gnomAD v4 |
16 | g.89279485del | CA10603562 | ANKRD11 | c.7062del (p.Ser2355ProfsTer?) c.*6865del (n.*6865del) c.745-4289del (n.745-4289del) c.152-4289del n.237del c.6960del (p.Ser2321ProfsTer?) c.6765del (p.Ser2256ProfsTer?) c.6933del (p.Ser2312ProfsTer?) | ClinVar dbSNP gnomAD v4 |
16 | g.89279481G>A | CA397149412 | ANKRD11 | c.7061C>T (p.Pro2354Leu) c.*6864C>T (n.*6864C>T) c.745-4290C>T (n.745-4290C>T) c.152-4290C>T n.236C>T c.6959C>T (p.Pro2320Leu) c.6764C>T (p.Pro2255Leu) c.6932C>T (p.Pro2311Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279481G>C | CA397149411 | ANKRD11 | c.7061C>G (p.Pro2354Arg) c.*6864C>G (n.*6864C>G) c.745-4290C>G (n.745-4290C>G) c.152-4290C>G n.236C>G c.6959C>G (p.Pro2320Arg) c.6764C>G (p.Pro2255Arg) c.6932C>G (p.Pro2311Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279481G= | CA2241586751 | ANKRD11 | c.7061C= (p.Pro2354=) c.*6864C= (n.*6864C=) c.745-4290C= (n.745-4290C=) c.152-4290C= n.236C= c.6959C= (p.Pro2320=) c.6764C= (p.Pro2255=) c.6932C= (p.Pro2311=) | |
16 | g.89279481G>T | CA8241298 | ANKRD11 | c.7061C>A (p.Pro2354His) c.*6864C>A (n.*6864C>A) c.745-4290C>A (n.745-4290C>A) c.152-4290C>A n.236C>A c.6959C>A (p.Pro2320His) c.6764C>A (p.Pro2255His) c.6932C>A (p.Pro2311His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.89279482G>A | CA397149413 | ANKRD11 | c.7060C>T (p.Pro2354Ser) c.*6863C>T (n.*6863C>T) c.745-4291C>T (n.745-4291C>T) c.152-4291C>T n.235C>T c.6958C>T (p.Pro2320Ser) c.6763C>T (p.Pro2255Ser) c.6931C>T (p.Pro2311Ser) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89279482G>C | CA286509533 | ANKRD11 | c.7060C>G (p.Pro2354Ala) c.*6863C>G (n.*6863C>G) c.745-4291C>G (n.745-4291C>G) c.152-4291C>G n.235C>G c.6958C>G (p.Pro2320Ala) c.6763C>G (p.Pro2255Ala) c.6931C>G (p.Pro2311Ala) | dbSNP gnomAD v4 |
16 | g.89279482G= | CA2241586752 | ANKRD11 | c.7060C= (p.Pro2354=) c.*6863C= (n.*6863C=) c.745-4291C= (n.745-4291C=) c.152-4291C= n.235C= c.6958C= (p.Pro2320=) c.6763C= (p.Pro2255=) c.6931C= (p.Pro2311=) | |
16 | g.89279482G>T | CA397149414 | ANKRD11 | c.7060C>A (p.Pro2354Thr) c.*6863C>A (n.*6863C>A) c.745-4291C>A (n.745-4291C>A) c.152-4291C>A n.235C>A c.6958C>A (p.Pro2320Thr) c.6763C>A (p.Pro2255Thr) c.6931C>A (p.Pro2311Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279483G>A | CA497372791 | ANKRD11 | c.7059C>T (p.Pro2353=) c.*6862C>T (n.*6862C>T) c.745-4292C>T (n.745-4292C>T) c.152-4292C>T n.234C>T c.6957C>T (p.Pro2319=) c.6762C>T (p.Pro2254=) c.6930C>T (p.Pro2310=) | gnomAD v4 |
16 | g.89279483G>C | CA497372793 | ANKRD11 | c.7059C>G (p.Pro2353=) c.*6862C>G (n.*6862C>G) c.745-4292C>G (n.745-4292C>G) c.152-4292C>G n.234C>G c.6957C>G (p.Pro2319=) c.6762C>G (p.Pro2254=) c.6930C>G (p.Pro2310=) | |
16 | g.89279483G= | CA2241586753 | ANKRD11 | c.7059C= (p.Pro2353=) c.*6862C= (n.*6862C=) c.745-4292C= (n.745-4292C=) c.152-4292C= n.234C= c.6957C= (p.Pro2319=) c.6762C= (p.Pro2254=) c.6930C= (p.Pro2310=) | |
16 | g.89279483G>T | CA286509538 | ANKRD11 | c.7059C>A (p.Pro2353=) c.*6862C>A (n.*6862C>A) c.745-4292C>A (n.745-4292C>A) c.152-4292C>A n.234C>A c.6957C>A (p.Pro2319=) c.6762C>A (p.Pro2254=) c.6930C>A (p.Pro2310=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.89279484G>A | CA286509547 | ANKRD11 | c.7058C>T (p.Pro2353Leu) c.*6861C>T (n.*6861C>T) c.745-4293C>T (n.745-4293C>T) c.152-4293C>T n.233C>T c.6956C>T (p.Pro2319Leu) c.6761C>T (p.Pro2254Leu) c.6929C>T (p.Pro2310Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.89279484G>C | CA397149415 | ANKRD11 | c.7058C>G (p.Pro2353Arg) c.*6861C>G (n.*6861C>G) c.745-4293C>G (n.745-4293C>G) c.152-4293C>G n.233C>G c.6956C>G (p.Pro2319Arg) c.6761C>G (p.Pro2254Arg) c.6929C>G (p.Pro2310Arg) | |
16 | g.89279484G= | CA2241586754 | ANKRD11 | c.7058C= (p.Pro2353=) c.*6861C= (n.*6861C=) c.745-4293C= (n.745-4293C=) c.152-4293C= n.233C= c.6956C= (p.Pro2319=) c.6761C= (p.Pro2254=) c.6929C= (p.Pro2310=) | |
16 | g.89279484G>T | CA397149416 | ANKRD11 | c.7058C>A (p.Pro2353His) c.*6861C>A (n.*6861C>A) c.745-4293C>A (n.745-4293C>A) c.152-4293C>A n.233C>A c.6956C>A (p.Pro2319His) c.6761C>A (p.Pro2254His) c.6929C>A (p.Pro2310His) | dbSNP gnomAD v4 |
16 | g.89279485G>A | CA397149417 | ANKRD11 | c.7057C>T (p.Pro2353Ser) c.*6860C>T (n.*6860C>T) c.745-4294C>T (n.745-4294C>T) c.152-4294C>T n.232C>T c.6955C>T (p.Pro2319Ser) c.6760C>T (p.Pro2254Ser) c.6928C>T (p.Pro2310Ser) | dbSNP gnomAD v4 |
16 | g.89279485G>C | CA397149418 | ANKRD11 | c.7057C>G (p.Pro2353Ala) c.*6860C>G (n.*6860C>G) c.745-4294C>G (n.745-4294C>G) c.152-4294C>G n.232C>G c.6955C>G (p.Pro2319Ala) c.6760C>G (p.Pro2254Ala) c.6928C>G (p.Pro2310Ala) | |
16 | g.89279485G= | CA2241586755 | ANKRD11 | c.7057C= (p.Pro2353=) c.*6860C= (n.*6860C=) c.745-4294C= (n.745-4294C=) c.152-4294C= n.232C= c.6955C= (p.Pro2319=) c.6760C= (p.Pro2254=) c.6928C= (p.Pro2310=) | |
16 | g.89279485G>T | CA397149419 | ANKRD11 | c.7057C>A (p.Pro2353Thr) c.*6860C>A (n.*6860C>A) c.745-4294C>A (n.745-4294C>A) c.152-4294C>A n.232C>A c.6955C>A (p.Pro2319Thr) c.6760C>A (p.Pro2254Thr) c.6928C>A (p.Pro2310Thr) | ClinVar gnomAD v4 |
16 | g.89279486C>A | CA497372423 | ANKRD11 | c.7056G>T (p.Pro2352=) c.*6859G>T (n.*6859G>T) c.745-4295G>T (n.745-4295G>T) c.152-4295G>T n.231G>T c.6954G>T (p.Pro2318=) c.6759G>T (p.Pro2253=) c.6927G>T (p.Pro2309=) | |
16 | g.89279486C>G | CA497372422 | ANKRD11 | c.7056G>C (p.Pro2352=) c.*6859G>C (n.*6859G>C) c.745-4295G>C (n.745-4295G>C) c.152-4295G>C n.231G>C c.6954G>C (p.Pro2318=) c.6759G>C (p.Pro2253=) c.6927G>C (p.Pro2309=) | gnomAD v4 |
16 | g.89279486C>T | CA497372421 | ANKRD11 | c.7056G>A (p.Pro2352=) c.*6859G>A (n.*6859G>A) c.745-4295G>A (n.745-4295G>A) c.152-4295G>A n.231G>A c.6954G>A (p.Pro2318=) c.6759G>A (p.Pro2253=) c.6927G>A (p.Pro2309=) | gnomAD v4 |
16 | g.89279487G>A | CA286509549 | ANKRD11 | c.7055C>T (p.Pro2352Leu) c.*6858C>T (n.*6858C>T) c.745-4296C>T (n.745-4296C>T) c.152-4296C>T n.230C>T c.6953C>T (p.Pro2318Leu) c.6758C>T (p.Pro2253Leu) c.6926C>T (p.Pro2309Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279487G>C | CA397149420 | ANKRD11 | c.7055C>G (p.Pro2352Arg) c.*6858C>G (n.*6858C>G) c.745-4296C>G (n.745-4296C>G) c.152-4296C>G n.230C>G c.6953C>G (p.Pro2318Arg) c.6758C>G (p.Pro2253Arg) c.6926C>G (p.Pro2309Arg) | |
16 | g.89279487G= | CA2241586756 | ANKRD11 | c.7055C= (p.Pro2352=) c.*6858C= (n.*6858C=) c.745-4296C= (n.745-4296C=) c.152-4296C= n.230C= c.6953C= (p.Pro2318=) c.6758C= (p.Pro2253=) c.6926C= (p.Pro2309=) | |
16 | g.89279487G>T | CA397149421 | ANKRD11 | c.7055C>A (p.Pro2352Gln) c.*6858C>A (n.*6858C>A) c.745-4296C>A (n.745-4296C>A) c.152-4296C>A n.230C>A c.6953C>A (p.Pro2318Gln) c.6758C>A (p.Pro2253Gln) c.6926C>A (p.Pro2309Gln) | ClinVar |
16 | g.89279488G>A | CA397149424 | ANKRD11 | c.7054C>T (p.Pro2352Ser) c.*6857C>T (n.*6857C>T) c.745-4297C>T (n.745-4297C>T) c.152-4297C>T n.229C>T c.6952C>T (p.Pro2318Ser) c.6757C>T (p.Pro2253Ser) c.6925C>T (p.Pro2309Ser) | gnomAD v4 |
16 | g.89279488G>C | CA397149423 | ANKRD11 | c.7054C>G (p.Pro2352Ala) c.*6857C>G (n.*6857C>G) c.745-4297C>G (n.745-4297C>G) c.152-4297C>G n.229C>G c.6952C>G (p.Pro2318Ala) c.6757C>G (p.Pro2253Ala) c.6925C>G (p.Pro2309Ala) | ClinVar |
16 | g.89279488G>T | CA397149422 | ANKRD11 | c.7054C>A (p.Pro2352Thr) c.*6857C>A (n.*6857C>A) c.745-4297C>A (n.745-4297C>A) c.152-4297C>A n.229C>A c.6952C>A (p.Pro2318Thr) c.6757C>A (p.Pro2253Thr) c.6925C>A (p.Pro2309Thr) | |
16 | g.89279489G>A | CA497372429 | ANKRD11 | c.7053C>T (p.Gly2351=) c.*6856C>T (n.*6856C>T) c.745-4298C>T (n.745-4298C>T) c.152-4298C>T n.228C>T c.6951C>T (p.Gly2317=) c.6756C>T (p.Gly2252=) c.6924C>T (p.Gly2308=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279489G>C | CA497372430 | ANKRD11 | c.7053C>G (p.Gly2351=) c.*6856C>G (n.*6856C>G) c.745-4298C>G (n.745-4298C>G) c.152-4298C>G n.228C>G c.6951C>G (p.Gly2317=) c.6756C>G (p.Gly2252=) c.6924C>G (p.Gly2308=) | ClinVar |
16 | g.89279489G= | CA2241586757 | ANKRD11 | c.7053C= (p.Gly2351=) c.*6856C= (n.*6856C=) c.745-4298C= (n.745-4298C=) c.152-4298C= n.228C= c.6951C= (p.Gly2317=) c.6756C= (p.Gly2252=) c.6924C= (p.Gly2308=) | |
16 | g.89279489G>T | CA497372431 | ANKRD11 | c.7053C>A (p.Gly2351=) c.*6856C>A (n.*6856C>A) c.745-4298C>A (n.745-4298C>A) c.152-4298C>A n.228C>A c.6951C>A (p.Gly2317=) c.6756C>A (p.Gly2252=) c.6924C>A (p.Gly2308=) | dbSNP gnomAD v4 |
16 | g.89279490C>A | CA397149427 | ANKRD11 | c.7052G>T (p.Gly2351Val) c.*6855G>T (n.*6855G>T) c.745-4299G>T (n.745-4299G>T) c.152-4299G>T n.227G>T c.6950G>T (p.Gly2317Val) c.6755G>T (p.Gly2252Val) c.6923G>T (p.Gly2308Val) | ClinVar |
16 | g.89279490C= | CA2241586758 | ANKRD11 | c.7052G= (p.Gly2351=) c.*6855G= (n.*6855G=) c.745-4299G= (n.745-4299G=) c.152-4299G= n.227G= c.6950G= (p.Gly2317=) c.6755G= (p.Gly2252=) c.6923G= (p.Gly2308=) | |
16 | g.89279490C>G | CA397149425 | ANKRD11 | c.7052G>C (p.Gly2351Ala) c.*6855G>C (n.*6855G>C) c.745-4299G>C (n.745-4299G>C) c.152-4299G>C n.227G>C c.6950G>C (p.Gly2317Ala) c.6755G>C (p.Gly2252Ala) c.6923G>C (p.Gly2308Ala) | |
16 | g.89279490C>T | CA397149426 | ANKRD11 | c.7052G>A (p.Gly2351Asp) c.*6855G>A (n.*6855G>A) c.745-4299G>A (n.745-4299G>A) c.152-4299G>A n.227G>A c.6950G>A (p.Gly2317Asp) c.6755G>A (p.Gly2252Asp) c.6923G>A (p.Gly2308Asp) | dbSNP gnomAD v4 |
16 | g.89279491C>A | CA397149428 | ANKRD11 | c.7051G>T (p.Gly2351Cys) c.*6854G>T (n.*6854G>T) c.745-4300G>T (n.745-4300G>T) c.152-4300G>T n.226G>T c.6949G>T (p.Gly2317Cys) c.6754G>T (p.Gly2252Cys) c.6922G>T (p.Gly2308Cys) | gnomAD v4 |
16 | g.89279491C= | CA2241586759 | ANKRD11 | c.7051G= (p.Gly2351=) c.*6854G= (n.*6854G=) c.745-4300G= (n.745-4300G=) c.152-4300G= n.226G= c.6949G= (p.Gly2317=) c.6754G= (p.Gly2252=) c.6922G= (p.Gly2308=) | |
16 | g.89279491C>G | CA397149429 | ANKRD11 | c.7051G>C (p.Gly2351Arg) c.*6854G>C (n.*6854G>C) c.745-4300G>C (n.745-4300G>C) c.152-4300G>C n.226G>C c.6949G>C (p.Gly2317Arg) c.6754G>C (p.Gly2252Arg) c.6922G>C (p.Gly2308Arg) | |
16 | g.89279491C>T | CA397149430 | ANKRD11 | c.7051G>A (p.Gly2351Ser) c.*6854G>A (n.*6854G>A) c.745-4300G>A (n.745-4300G>A) c.152-4300G>A n.226G>A c.6949G>A (p.Gly2317Ser) c.6754G>A (p.Gly2252Ser) c.6922G>A (p.Gly2308Ser) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89279492C>A | CA397149431 | ANKRD11 | c.7050G>T (p.Gln2350His) c.*6853G>T (n.*6853G>T) c.745-4301G>T (n.745-4301G>T) c.152-4301G>T n.225G>T c.6948G>T (p.Gln2316His) c.6753G>T (p.Gln2251His) c.6921G>T (p.Gln2307His) | dbSNP |
16 | g.89279492C= | CA2241586760 | ANKRD11 | c.7050G= (p.Gln2350=) c.*6853G= (n.*6853G=) c.745-4301G= (n.745-4301G=) c.152-4301G= n.225G= c.6948G= (p.Gln2316=) c.6753G= (p.Gln2251=) c.6921G= (p.Gln2307=) | |
16 | g.89279492C>G | CA397149432 | ANKRD11 | c.7050G>C (p.Gln2350His) c.*6853G>C (n.*6853G>C) c.745-4301G>C (n.745-4301G>C) c.152-4301G>C n.225G>C c.6948G>C (p.Gln2316His) c.6753G>C (p.Gln2251His) c.6921G>C (p.Gln2307His) | |
16 | g.89279492C>T | CA497372440 | ANKRD11 | c.7050G>A (p.Gln2350=) c.*6853G>A (n.*6853G>A) c.745-4301G>A (n.745-4301G>A) c.152-4301G>A n.225G>A c.6948G>A (p.Gln2316=) c.6753G>A (p.Gln2251=) c.6921G>A (p.Gln2307=) | dbSNP |
16 | g.89279494_89279496del | CA2580092269 | ANKRD11 | c.7048_7050del (p.Gln2350del) c.*6851_*6853del (n.*6851_*6853del) c.745-4303_745-4301del (n.745-4303_745-4301del) c.152-4303_152-4301del n.223_225del c.6946_6948del (p.Gln2316del) c.6751_6753del (p.Gln2251del) c.6919_6921del (p.Gln2307del) | ClinVar |
16 | g.89279493T>A | CA397149433 | ANKRD11 | c.7049A>T (p.Gln2350Leu) c.*6852A>T (n.*6852A>T) c.745-4302A>T (n.745-4302A>T) c.152-4302A>T n.224A>T c.6947A>T (p.Gln2316Leu) c.6752A>T (p.Gln2251Leu) c.6920A>T (p.Gln2307Leu) | |
16 | g.89279493T>C | CA397149434 | ANKRD11 | c.7049A>G (p.Gln2350Arg) c.*6852A>G (n.*6852A>G) c.745-4302A>G (n.745-4302A>G) c.152-4302A>G n.224A>G c.6947A>G (p.Gln2316Arg) c.6752A>G (p.Gln2251Arg) c.6920A>G (p.Gln2307Arg) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89279493T>G | CA397149435 | ANKRD11 | c.7049A>C (p.Gln2350Pro) c.*6852A>C (n.*6852A>C) c.745-4302A>C (n.745-4302A>C) c.152-4302A>C n.224A>C c.6947A>C (p.Gln2316Pro) c.6752A>C (p.Gln2251Pro) c.6920A>C (p.Gln2307Pro) | |
16 | g.89279493T= | CA2241586761 | ANKRD11 | c.7049A= (p.Gln2350=) c.*6852A= (n.*6852A=) c.745-4302A= (n.745-4302A=) c.152-4302A= n.224A= c.6947A= (p.Gln2316=) c.6752A= (p.Gln2251=) c.6920A= (p.Gln2307=) | |
16 | g.89279494G>A | CA397149436 | ANKRD11 | c.7048C>T (p.Gln2350Ter) c.*6851C>T (n.*6851C>T) c.745-4303C>T (n.745-4303C>T) c.152-4303C>T n.223C>T c.6946C>T (p.Gln2316Ter) c.6751C>T (p.Gln2251Ter) c.6919C>T (p.Gln2307Ter) | ClinVar |
16 | g.89279494G>C | CA397149437 | ANKRD11 | c.7048C>G (p.Gln2350Glu) c.*6851C>G (n.*6851C>G) c.745-4303C>G (n.745-4303C>G) c.152-4303C>G n.223C>G c.6946C>G (p.Gln2316Glu) c.6751C>G (p.Gln2251Glu) c.6919C>G (p.Gln2307Glu) | |
16 | g.89279494G>T | CA397149438 | ANKRD11 | c.7048C>A (p.Gln2350Lys) c.*6851C>A (n.*6851C>A) c.745-4303C>A (n.745-4303C>A) c.152-4303C>A n.223C>A c.6946C>A (p.Gln2316Lys) c.6751C>A (p.Gln2251Lys) c.6919C>A (p.Gln2307Lys) | |
16 | g.89279495C>A | CA397149440 | ANKRD11 | c.7047G>T (p.Lys2349Asn) c.*6850G>T (n.*6850G>T) c.745-4304G>T (n.745-4304G>T) c.152-4304G>T n.222G>T c.6945G>T (p.Lys2315Asn) c.6750G>T (p.Lys2250Asn) c.6918G>T (p.Lys2306Asn) | |
16 | g.89279495C>G | CA397149439 | ANKRD11 | c.7047G>C (p.Lys2349Asn) c.*6850G>C (n.*6850G>C) c.745-4304G>C (n.745-4304G>C) c.152-4304G>C n.222G>C c.6945G>C (p.Lys2315Asn) c.6750G>C (p.Lys2250Asn) c.6918G>C (p.Lys2306Asn) | |
16 | g.89279495C>T | CA497372442 | ANKRD11 | c.7047G>A (p.Lys2349=) c.*6850G>A (n.*6850G>A) c.745-4304G>A (n.745-4304G>A) c.152-4304G>A n.222G>A c.6945G>A (p.Lys2315=) c.6750G>A (p.Lys2250=) c.6918G>A (p.Lys2306=) | ClinVar gnomAD v4 |
16 | g.89279496T>A | CA397149441 | ANKRD11 | c.7046A>T (p.Lys2349Met) c.*6849A>T (n.*6849A>T) c.745-4305A>T (n.745-4305A>T) c.152-4305A>T n.221A>T c.6944A>T (p.Lys2315Met) c.6749A>T (p.Lys2250Met) c.6917A>T (p.Lys2306Met) | |
16 | g.89279496T>C | CA286509554 | ANKRD11 | c.7046A>G (p.Lys2349Arg) c.*6849A>G (n.*6849A>G) c.745-4305A>G (n.745-4305A>G) c.152-4305A>G n.221A>G c.6944A>G (p.Lys2315Arg) c.6749A>G (p.Lys2250Arg) c.6917A>G (p.Lys2306Arg) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89279496T>G | CA397149442 | ANKRD11 | c.7046A>C (p.Lys2349Thr) c.*6849A>C (n.*6849A>C) c.745-4305A>C (n.745-4305A>C) c.152-4305A>C n.221A>C c.6944A>C (p.Lys2315Thr) c.6749A>C (p.Lys2250Thr) c.6917A>C (p.Lys2306Thr) | |
16 | g.89279496T= | CA2241586762 | ANKRD11 | c.7046A= (p.Lys2349=) c.*6849A= (n.*6849A=) c.745-4305A= (n.745-4305A=) c.152-4305A= n.221A= c.6944A= (p.Lys2315=) c.6749A= (p.Lys2250=) c.6917A= (p.Lys2306=) | |
16 | g.89279497T>A | CA397149443 | ANKRD11 | c.7045A>T (p.Lys2349Ter) c.*6848A>T (n.*6848A>T) c.745-4306A>T (n.745-4306A>T) c.152-4306A>T n.220A>T c.6943A>T (p.Lys2315Ter) c.6748A>T (p.Lys2250Ter) c.6916A>T (p.Lys2306Ter) | |
16 | g.89279497T>C | CA397149444 | ANKRD11 | c.7045A>G (p.Lys2349Glu) c.*6848A>G (n.*6848A>G) c.745-4306A>G (n.745-4306A>G) c.152-4306A>G n.220A>G c.6943A>G (p.Lys2315Glu) c.6748A>G (p.Lys2250Glu) c.6916A>G (p.Lys2306Glu) | |
16 | g.89279497T>G | CA397149445 | ANKRD11 | c.7045A>C (p.Lys2349Gln) c.*6848A>C (n.*6848A>C) c.745-4306A>C (n.745-4306A>C) c.152-4306A>C n.220A>C c.6943A>C (p.Lys2315Gln) c.6748A>C (p.Lys2250Gln) c.6916A>C (p.Lys2306Gln) | |
16 | g.89279498G>A | CA497372447 | ANKRD11 | c.7044C>T (p.Ser2348=) c.*6847C>T (n.*6847C>T) c.745-4307C>T (n.745-4307C>T) c.152-4307C>T n.219C>T c.6942C>T (p.Ser2314=) c.6747C>T (p.Ser2249=) c.6915C>T (p.Ser2305=) | |
16 | g.89279498G>C | CA397149446 | ANKRD11 | c.7044C>G (p.Ser2348Arg) c.*6847C>G (n.*6847C>G) c.745-4307C>G (n.745-4307C>G) c.152-4307C>G n.219C>G c.6942C>G (p.Ser2314Arg) c.6747C>G (p.Ser2249Arg) c.6915C>G (p.Ser2305Arg) | |
16 | g.89279498G>T | CA397149447 | ANKRD11 | c.7044C>A (p.Ser2348Arg) c.*6847C>A (n.*6847C>A) c.745-4307C>A (n.745-4307C>A) c.152-4307C>A n.219C>A c.6942C>A (p.Ser2314Arg) c.6747C>A (p.Ser2249Arg) c.6915C>A (p.Ser2305Arg) | gnomAD v4 |
16 | g.89279499C>A | CA397149448 | ANKRD11 | c.7043G>T (p.Ser2348Ile) c.*6846G>T (n.*6846G>T) c.745-4308G>T (n.745-4308G>T) c.152-4308G>T n.218G>T c.6941G>T (p.Ser2314Ile) c.6746G>T (p.Ser2249Ile) c.6914G>T (p.Ser2305Ile) | |
16 | g.89279499C= | CA2241586763 | ANKRD11 | c.7043G= (p.Ser2348=) c.*6846G= (n.*6846G=) c.745-4308G= (n.745-4308G=) c.152-4308G= n.218G= c.6941G= (p.Ser2314=) c.6746G= (p.Ser2249=) c.6914G= (p.Ser2305=) | |
16 | g.89279499C>G | CA397149449 | ANKRD11 | c.7043G>C (p.Ser2348Thr) c.*6846G>C (n.*6846G>C) c.745-4308G>C (n.745-4308G>C) c.152-4308G>C n.218G>C c.6941G>C (p.Ser2314Thr) c.6746G>C (p.Ser2249Thr) c.6914G>C (p.Ser2305Thr) | |
16 | g.89279499C>T | CA397149450 | ANKRD11 | c.7043G>A (p.Ser2348Asn) c.*6846G>A (n.*6846G>A) c.745-4308G>A (n.745-4308G>A) c.152-4308G>A n.218G>A c.6941G>A (p.Ser2314Asn) c.6746G>A (p.Ser2249Asn) c.6914G>A (p.Ser2305Asn) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89279500T>A | CA397149451 | ANKRD11 | c.7042A>T (p.Ser2348Cys) c.*6845A>T (n.*6845A>T) c.745-4309A>T (n.745-4309A>T) c.152-4309A>T n.217A>T c.6940A>T (p.Ser2314Cys) c.6745A>T (p.Ser2249Cys) c.6913A>T (p.Ser2305Cys) | |
16 | g.89279500T>C | CA397149452 | ANKRD11 | c.7042A>G (p.Ser2348Gly) c.*6845A>G (n.*6845A>G) c.745-4309A>G (n.745-4309A>G) c.152-4309A>G n.217A>G c.6940A>G (p.Ser2314Gly) c.6745A>G (p.Ser2249Gly) c.6913A>G (p.Ser2305Gly) | |
16 | g.89279500T>G | CA397149453 | ANKRD11 | c.7042A>C (p.Ser2348Arg) c.*6845A>C (n.*6845A>C) c.745-4309A>C (n.745-4309A>C) c.152-4309A>C n.217A>C c.6940A>C (p.Ser2314Arg) c.6745A>C (p.Ser2249Arg) c.6913A>C (p.Ser2305Arg) | |
16 | g.89279501C>A | CA397149454 | ANKRD11 | c.7041G>T (p.Gln2347His) c.*6844G>T (n.*6844G>T) c.745-4310G>T (n.745-4310G>T) c.152-4310G>T n.216G>T c.6939G>T (p.Gln2313His) c.6744G>T (p.Gln2248His) c.6912G>T (p.Gln2304His) | |
16 | g.89279501C= | CA2241586764 | ANKRD11 | c.7041G= (p.Gln2347=) c.*6844G= (n.*6844G=) c.745-4310G= (n.745-4310G=) c.152-4310G= n.216G= c.6939G= (p.Gln2313=) c.6744G= (p.Gln2248=) c.6912G= (p.Gln2304=) | |
16 | g.89279501C>G | CA397149455 | ANKRD11 | c.7041G>C (p.Gln2347His) c.*6844G>C (n.*6844G>C) c.745-4310G>C (n.745-4310G>C) c.152-4310G>C n.216G>C c.6939G>C (p.Gln2313His) c.6744G>C (p.Gln2248His) c.6912G>C (p.Gln2304His) | dbSNP gnomAD v4 |
16 | g.89279501C>T | CA8241299 | ANKRD11 | c.7041G>A (p.Gln2347=) c.*6844G>A (n.*6844G>A) c.745-4310G>A (n.745-4310G>A) c.152-4310G>A n.216G>A c.6939G>A (p.Gln2313=) c.6744G>A (p.Gln2248=) c.6912G>A (p.Gln2304=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279502T>A | CA397149456 | ANKRD11 | c.7040A>T (p.Gln2347Leu) c.*6843A>T (n.*6843A>T) c.745-4311A>T (n.745-4311A>T) c.152-4311A>T n.215A>T c.6938A>T (p.Gln2313Leu) c.6743A>T (p.Gln2248Leu) c.6911A>T (p.Gln2304Leu) | |
16 | g.89279502T>C | CA397149458 | ANKRD11 | c.7040A>G (p.Gln2347Arg) c.*6843A>G (n.*6843A>G) c.745-4311A>G (n.745-4311A>G) c.152-4311A>G n.215A>G c.6938A>G (p.Gln2313Arg) c.6743A>G (p.Gln2248Arg) c.6911A>G (p.Gln2304Arg) | dbSNP |
16 | g.89279502T>G | CA397149457 | ANKRD11 | c.7040A>C (p.Gln2347Pro) c.*6843A>C (n.*6843A>C) c.745-4311A>C (n.745-4311A>C) c.152-4311A>C n.215A>C c.6938A>C (p.Gln2313Pro) c.6743A>C (p.Gln2248Pro) c.6911A>C (p.Gln2304Pro) | gnomAD v4 |
16 | g.89279502T= | CA2241586765 | ANKRD11 | c.7040A= (p.Gln2347=) c.*6843A= (n.*6843A=) c.745-4311A= (n.745-4311A=) c.152-4311A= n.215A= c.6938A= (p.Gln2313=) c.6743A= (p.Gln2248=) c.6911A= (p.Gln2304=) | |
16 | g.89279503G>A | CA397149459 | ANKRD11 | c.7039C>T (p.Gln2347Ter) c.*6842C>T (n.*6842C>T) c.745-4312C>T (n.745-4312C>T) c.152-4312C>T n.214C>T c.6937C>T (p.Gln2313Ter) c.6742C>T (p.Gln2248Ter) c.6910C>T (p.Gln2304Ter) | |
16 | g.89279503G>C | CA397149460 | ANKRD11 | c.7039C>G (p.Gln2347Glu) c.*6842C>G (n.*6842C>G) c.745-4312C>G (n.745-4312C>G) c.152-4312C>G n.214C>G c.6937C>G (p.Gln2313Glu) c.6742C>G (p.Gln2248Glu) c.6910C>G (p.Gln2304Glu) | |
16 | g.89279503G>T | CA397149461 | ANKRD11 | c.7039C>A (p.Gln2347Lys) c.*6842C>A (n.*6842C>A) c.745-4312C>A (n.745-4312C>A) c.152-4312C>A n.214C>A c.6937C>A (p.Gln2313Lys) c.6742C>A (p.Gln2248Lys) c.6910C>A (p.Gln2304Lys) | |
16 | g.89279504G>A | CA497372457 | ANKRD11 | c.7038C>T (p.Asn2346=) c.*6841C>T (n.*6841C>T) c.745-4313C>T (n.745-4313C>T) c.152-4313C>T n.213C>T c.6936C>T (p.Asn2312=) c.6741C>T (p.Asn2247=) c.6909C>T (p.Asn2303=) | |
16 | g.89279504G>C | CA397149462 | ANKRD11 | c.7038C>G (p.Asn2346Lys) c.*6841C>G (n.*6841C>G) c.745-4313C>G (n.745-4313C>G) c.152-4313C>G n.213C>G c.6936C>G (p.Asn2312Lys) c.6741C>G (p.Asn2247Lys) c.6909C>G (p.Asn2303Lys) | |
16 | g.89279504G>T | CA397149463 | ANKRD11 | c.7038C>A (p.Asn2346Lys) c.*6841C>A (n.*6841C>A) c.745-4313C>A (n.745-4313C>A) c.152-4313C>A n.213C>A c.6936C>A (p.Asn2312Lys) c.6741C>A (p.Asn2247Lys) c.6909C>A (p.Asn2303Lys) | |
16 | g.89279505T>A | CA397149464 | ANKRD11 | c.7037A>T (p.Asn2346Ile) c.*6840A>T (n.*6840A>T) c.745-4314A>T (n.745-4314A>T) c.152-4314A>T n.212A>T c.6935A>T (p.Asn2312Ile) c.6740A>T (p.Asn2247Ile) c.6908A>T (p.Asn2303Ile) | |
16 | g.89279505T>C | CA397149465 | ANKRD11 | c.7037A>G (p.Asn2346Ser) c.*6840A>G (n.*6840A>G) c.745-4314A>G (n.745-4314A>G) c.152-4314A>G n.212A>G c.6935A>G (p.Asn2312Ser) c.6740A>G (p.Asn2247Ser) c.6908A>G (p.Asn2303Ser) | dbSNP gnomAD v4 |
16 | g.89279505T>G | CA397149466 | ANKRD11 | c.7037A>C (p.Asn2346Thr) c.*6840A>C (n.*6840A>C) c.745-4314A>C (n.745-4314A>C) c.152-4314A>C n.212A>C c.6935A>C (p.Asn2312Thr) c.6740A>C (p.Asn2247Thr) c.6908A>C (p.Asn2303Thr) | |
16 | g.89279505T= | CA2241586766 | ANKRD11 | c.7037A= (p.Asn2346=) c.*6840A= (n.*6840A=) c.745-4314A= (n.745-4314A=) c.152-4314A= n.212A= c.6935A= (p.Asn2312=) c.6740A= (p.Asn2247=) c.6908A= (p.Asn2303=) | |
16 | g.89279506T>A | CA397149467 | ANKRD11 | c.7036A>T (p.Asn2346Tyr) c.*6839A>T (n.*6839A>T) c.745-4315A>T (n.745-4315A>T) c.152-4315A>T n.211A>T c.6934A>T (p.Asn2312Tyr) c.6739A>T (p.Asn2247Tyr) c.6907A>T (p.Asn2303Tyr) | |
16 | g.89279506T>C | CA397149468 | ANKRD11 | c.7036A>G (p.Asn2346Asp) c.*6839A>G (n.*6839A>G) c.745-4315A>G (n.745-4315A>G) c.152-4315A>G n.211A>G c.6934A>G (p.Asn2312Asp) c.6739A>G (p.Asn2247Asp) c.6907A>G (p.Asn2303Asp) | |
16 | g.89279506T>G | CA397149469 | ANKRD11 | c.7036A>C (p.Asn2346His) c.*6839A>C (n.*6839A>C) c.745-4315A>C (n.745-4315A>C) c.152-4315A>C n.211A>C c.6934A>C (p.Asn2312His) c.6739A>C (p.Asn2247His) c.6907A>C (p.Asn2303His) | |
16 | g.89279507C>A | CA497372461 | ANKRD11 | c.7035G>T (p.Ala2345=) c.*6838G>T (n.*6838G>T) c.745-4316G>T (n.745-4316G>T) c.152-4316G>T n.210G>T c.6933G>T (p.Ala2311=) c.6738G>T (p.Ala2246=) c.6906G>T (p.Ala2302=) | |
16 | g.89279507C= | CA2241586767 | ANKRD11 | c.7035G= (p.Ala2345=) c.*6838G= (n.*6838G=) c.745-4316G= (n.745-4316G=) c.152-4316G= n.210G= c.6933G= (p.Ala2311=) c.6738G= (p.Ala2246=) c.6906G= (p.Ala2302=) | |
16 | g.89279507C>G | CA8241300 | ANKRD11 | c.7035G>C (p.Ala2345=) c.*6838G>C (n.*6838G>C) c.745-4316G>C (n.745-4316G>C) c.152-4316G>C n.210G>C c.6933G>C (p.Ala2311=) c.6738G>C (p.Ala2246=) c.6906G>C (p.Ala2302=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89279507C>T | CA497372459 | ANKRD11 | c.7035G>A (p.Ala2345=) c.*6838G>A (n.*6838G>A) c.745-4316G>A (n.745-4316G>A) c.152-4316G>A n.210G>A c.6933G>A (p.Ala2311=) c.6738G>A (p.Ala2246=) c.6906G>A (p.Ala2302=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89279508G>A | CA286509557 | ANKRD11 | c.7034C>T (p.Ala2345Val) c.*6837C>T (n.*6837C>T) c.745-4317C>T (n.745-4317C>T) c.152-4317C>T n.209C>T c.6932C>T (p.Ala2311Val) c.6737C>T (p.Ala2246Val) c.6905C>T (p.Ala2302Val) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89279508G>C | CA397149470 | ANKRD11 | c.7034C>G (p.Ala2345Gly) c.*6837C>G (n.*6837C>G) c.745-4317C>G (n.745-4317C>G) c.152-4317C>G n.209C>G c.6932C>G (p.Ala2311Gly) c.6737C>G (p.Ala2246Gly) c.6905C>G (p.Ala2302Gly) | |
16 | g.89279508G= | CA2241586768 | ANKRD11 | c.7034C= (p.Ala2345=) c.*6837C= (n.*6837C=) c.745-4317C= (n.745-4317C=) c.152-4317C= n.209C= c.6932C= (p.Ala2311=) c.6737C= (p.Ala2246=) c.6905C= (p.Ala2302=) | |
16 | g.89279508G>T | CA397149471 | ANKRD11 | c.7034C>A (p.Ala2345Glu) c.*6837C>A (n.*6837C>A) c.745-4317C>A (n.745-4317C>A) c.152-4317C>A n.209C>A c.6932C>A (p.Ala2311Glu) c.6737C>A (p.Ala2246Glu) c.6905C>A (p.Ala2302Glu) | gnomAD v4 |
16 | g.89279508_89279509delinsAT | CA2580613927 | ANKRD11 | c.7033_7034delinsAT (p.Ala2345Met) c.*6836_*6837delinsAT (n.*6836_*6837delinsAT) c.745-4318_745-4317delinsAT (n.745-4318_745-4317delinsAT) c.152-4318_152-4317delinsAT n.208_209delinsAT c.6931_6932delinsAT (p.Ala2311Met) c.6736_6737delinsAT (p.Ala2246Met) c.6904_6905delinsAT (p.Ala2302Met) | ClinVar |