Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.89279404_89279434delinsGGGCGTCGTCGTCCTCGGAGCCGCGGGCCTTCA2241586689ANKRD11c.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=)
16g.89279408_89279437delCA2241586690ANKRD11c.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
16g.89279407_89279408delCA980389759ANKRD11c.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
16g.89279406_89279409delinsGCGTCA2241586692ANKRD11c.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=)
16g.89279414_89279416dupCA2808088001ANKRD11c.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)
16g.89279414_89279416delCA8241290ANKRD11c.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
16g.89279408G>ACA497372637ANKRD11c.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
16g.89279408G>CCA397149249ANKRD11c.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)
16g.89279408G=CA2241586695ANKRD11c.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=)
16g.89279408G>TCA397149251ANKRD11c.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)
16g.89279409T>ACA397149254ANKRD11c.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)
16g.89279409T>CCA397149253ANKRD11c.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
16g.89279409T>GCA8241291ANKRD11c.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
16g.89279409T=CA2241586696ANKRD11c.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=)
16g.89279409_89279410delinsTCCA2241586697ANKRD11c.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=)
16g.89279410delCA980389764ANKRD11c.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
16g.89279410C>ACA397149256ANKRD11c.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
16g.89279410C=CA2241586698ANKRD11c.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=)
16g.89279410C>GCA397149258ANKRD11c.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)
16g.89279410C>TCA286509486ANKRD11c.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
16g.89279411G>ACA286509489ANKRD11c.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
16g.89279411G>CCA397149261ANKRD11c.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
16g.89279411G=CA2241586699ANKRD11c.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=)
16g.89279411G>TCA397149262ANKRD11c.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
16g.89279412T>ACA397149263ANKRD11c.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
16g.89279412T>CCA397149264ANKRD11c.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)
16g.89279412T>GCA397149265ANKRD11c.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
16g.89279412T=CA2241586700ANKRD11c.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=)
16g.89279413C>ACA286509492ANKRD11c.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
16g.89279413C=CA2241586701ANKRD11c.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=)
16g.89279413C>GCA397149266ANKRD11c.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)
16g.89279413C>TCA397149267ANKRD11c.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)
16g.89279413_89279414delinsACCA2740093464ANKRD11c.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
16g.89279414G>ACA497372642ANKRD11c.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
16g.89279414G>CCA8241292ANKRD11c.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
16g.89279414G=CA2241586702ANKRD11c.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=)
16g.89279414G>TCA397149268ANKRD11c.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)
16g.89279415T>ACA397149271ANKRD11c.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)
16g.89279415T>CCA397149269ANKRD11c.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
16g.89279415T>GCA397149270ANKRD11c.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)
16g.89279417_89279419dupCA8241293ANKRD11c.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
16g.89279416C>ACA397149273ANKRD11c.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)
16g.89279416C>GCA397149272ANKRD11c.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)
16g.89279416C>TCA397149274ANKRD11c.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)
16g.89279417C>ACA397149275ANKRD11c.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)
16g.89279417C>GCA397149276ANKRD11c.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)
16g.89279417C>TCA497372648ANKRD11c.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=)
16g.89279418T>ACA397149277ANKRD11c.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)
16g.89279418T>CCA397149278ANKRD11c.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)
16g.89279418T>GCA397149279ANKRD11c.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)
16g.89279419C>ACA397149280ANKRD11c.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)
16g.89279419C=CA2241586703ANKRD11c.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=)
16g.89279419C>GCA397149281ANKRD11c.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)
16g.89279419C>TCA397149282ANKRD11c.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
16g.89279420G>ACA497372654ANKRD11c.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
16g.89279420G>CCA497372656ANKRD11c.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
16g.89279420G=CA2241586704ANKRD11c.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=)
16g.89279420G>TCA497372657ANKRD11c.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
16g.89279421G>ACA397149283ANKRD11c.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)
16g.89279421G>CCA397149284ANKRD11c.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
16g.89279421G=CA2241586705ANKRD11c.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=)
16g.89279421G>TCA397149285ANKRD11c.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)
16g.89279422A>CCA397149286ANKRD11c.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)
16g.89279422A>GCA397149287ANKRD11c.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)
16g.89279422A>TCA397149288ANKRD11c.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)
16g.89279423G>ACA497372664ANKRD11c.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
16g.89279423G>CCA497372659ANKRD11c.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=)
16g.89279423G=CA2241586706ANKRD11c.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=)
16g.89279423G>TCA497372661ANKRD11c.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
16g.89279424C>ACA397149291ANKRD11c.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
16g.89279424C=CA2241586707ANKRD11c.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=)
16g.89279424C>GCA397149290ANKRD11c.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
16g.89279424C>TCA397149289ANKRD11c.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
16g.89279425C>ACA397149292ANKRD11c.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
16g.89279425C=CA2241586708ANKRD11c.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=)
16g.89279425C>GCA397149293ANKRD11c.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)
16g.89279425C>TCA397149294ANKRD11c.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
16g.89279426G>ACA497372668ANKRD11c.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
16g.89279426G>CCA286509498ANKRD11c.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
16g.89279426G=CA2241586709ANKRD11c.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=)
16g.89279426G>TCA497372669ANKRD11c.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
16g.89279427C>ACA397149295ANKRD11c.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)
16g.89279427C=CA2241586710ANKRD11c.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=)
16g.89279427C>GCA286509503ANKRD11c.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
16g.89279427C>TCA8241294ANKRD11c.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
16g.89279428G>ACA397149296ANKRD11c.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
16g.89279428G>CCA397149297ANKRD11c.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
16g.89279428G=CA2241586711ANKRD11c.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=)
16g.89279428G>TCA397149298ANKRD11c.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)
16g.89279430dupCA915949407ANKRD11c.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
16g.89279429G>ACA497372675ANKRD11c.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
16g.89279429G>CCA497372677ANKRD11c.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=)
16g.89279429G=CA2241586712ANKRD11c.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=)
16g.89279429G>TCA497372676ANKRD11c.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=)
16g.89279430G>ACA397149300ANKRD11c.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
16g.89279430G>CCA397149301ANKRD11c.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
16g.89279430G=CA2241586713ANKRD11c.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=)
16g.89279430G>TCA397149303ANKRD11c.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)
16g.89279431C>ACA8241295ANKRD11c.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
16g.89279431C=CA2241586714ANKRD11c.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=)
16g.89279431C>GCA397149305ANKRD11c.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)
16g.89279431C>TCA397149304ANKRD11c.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
16g.89279432C>ACA397149306ANKRD11c.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)
16g.89279432C>GCA397149307ANKRD11c.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)
16g.89279432C>TCA497372683ANKRD11c.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=)
16g.89279433T>ACA397149308ANKRD11c.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)
16g.89279433T>CCA397149309ANKRD11c.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
16g.89279433T>GCA397149310ANKRD11c.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
16g.89279434T>ACA397149311ANKRD11c.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)
16g.89279434T>CCA397149312ANKRD11c.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)
16g.89279434T>GCA397149313ANKRD11c.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
16g.89279434T=CA2241586715ANKRD11c.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=)
16g.89279435G>ACA497372688ANKRD11c.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=)
16g.89279435G>CCA497372690ANKRD11c.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
16g.89279435G=CA2241586717ANKRD11c.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=)
16g.89279435G>TCA497372689ANKRD11c.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
16g.89279435_89279439delinsGGCCCCA2241586716ANKRD11c.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=)
16g.89279436G>ACA397149314ANKRD11c.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
16g.89279436G>CCA397149316ANKRD11c.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)
16g.89279436G=CA2241586718ANKRD11c.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=)
16g.89279436G>TCA397149317ANKRD11c.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)
16g.89279436_89279439delCA1139664888ANKRD11c.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
16g.89279437C>ACA286509510ANKRD11c.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
16g.89279437C=CA2241586719ANKRD11c.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=)
16g.89279437C>GCA397149318ANKRD11c.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)
16g.89279437C>TCA397149319ANKRD11c.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)
16g.89279438C>ACA397149320ANKRD11c.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)
16g.89279438C=CA2241586720ANKRD11c.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=)
16g.89279438C>GCA397149321ANKRD11c.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)
16g.89279438C>TCA497372695ANKRD11c.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
16g.89279439C>ACA397149322ANKRD11c.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)
16g.89279439C=CA2241586721ANKRD11c.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=)
16g.89279439C>GCA397149323ANKRD11c.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
16g.89279439C>TCA286509514ANKRD11c.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
16g.89279440T>ACA397149324ANKRD11c.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)
16g.89279440T>CCA397149325ANKRD11c.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
16g.89279440T>GCA497372702ANKRD11c.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
16g.89279440T=CA2241586722ANKRD11c.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=)
16g.89279441G>ACA497372703ANKRD11c.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
16g.89279441G>CCA497372704ANKRD11c.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=)
16g.89279441G=CA2241586723ANKRD11c.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=)
16g.89279441G>TCA497372705ANKRD11c.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=)
16g.89279442G>ACA397149326ANKRD11c.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
16g.89279442G>CCA397149327ANKRD11c.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
16g.89279442G=CA2241586724ANKRD11c.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=)
16g.89279442G>TCA397149328ANKRD11c.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)
16g.89279443T>ACA397149329ANKRD11c.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
16g.89279443T>CCA397149330ANKRD11c.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
16g.89279443T>GCA397149331ANKRD11c.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
16g.89279443T=CA2241586725ANKRD11c.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=)
16g.89279444G>ACA497372710ANKRD11c.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
16g.89279444G>CCA286509517ANKRD11c.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
16g.89279444G=CA2241586726ANKRD11c.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=)
16g.89279444G>TCA497372712ANKRD11c.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
16g.89279445_89279454delCA2695223895ANKRD11c.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?)
16g.89279445A=CA2241586727ANKRD11c.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=)
16g.89279445A>CCA397149334ANKRD11c.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
16g.89279445A>GCA397149333ANKRD11c.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)
16g.89279445A>TCA397149332ANKRD11c.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)
16g.89279446C>ACA397149335ANKRD11c.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)
16g.89279446C>GCA397149336ANKRD11c.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
16g.89279446C>TCA397149337ANKRD11c.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)
16g.89279447C>ACA497372717ANKRD11c.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=)
16g.89279447C=CA2241586728ANKRD11c.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=)
16g.89279447C>GCA497372718ANKRD11c.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
16g.89279447C>TCA497372719ANKRD11c.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
16g.89279447_89279448insACA2634941093ANKRD11c.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
16g.89279448G>ACA397149338ANKRD11c.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
16g.89279448G>CCA397149339ANKRD11c.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
16g.89279448G=CA2241586729ANKRD11c.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=)
16g.89279448G>TCA397149340ANKRD11c.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
16g.89279449G>ACA397149343ANKRD11c.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
16g.89279449G>CCA397149342ANKRD11c.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)
16g.89279449G=CA2241586730ANKRD11c.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=)
16g.89279449G>TCA397149341ANKRD11c.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
16g.89279450G>ACA497372724ANKRD11c.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
16g.89279450G>CCA497372728ANKRD11c.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
16g.89279450G>TCA497372726ANKRD11c.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=)
16g.89279451G>ACA397149345ANKRD11c.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
16g.89279451G>CCA397149347ANKRD11c.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
16g.89279451G=CA2241586731ANKRD11c.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=)
16g.89279451G>TCA397149348ANKRD11c.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
16g.89279452C>ACA286509521ANKRD11c.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
16g.89279452C=CA2241586732ANKRD11c.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=)
16g.89279452C>GCA397149349ANKRD11c.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
16g.89279452C>TCA397149350ANKRD11c.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
16g.89279452_89279453insCACA2634941113ANKRD11c.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
16g.89279453A=CA2241586733ANKRD11c.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=)
16g.89279453A>CCA497372732ANKRD11c.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
16g.89279453A>GCA497372733ANKRD11c.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
16g.89279453A>TCA497372735ANKRD11c.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
16g.89279454G>ACA397149351ANKRD11c.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
16g.89279454G>CCA397149353ANKRD11c.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
16g.89279454G=CA2241586734ANKRD11c.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=)
16g.89279454G>TCA397149352ANKRD11c.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)
16g.89279455G>ACA397149354ANKRD11c.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
16g.89279455G>CCA8241296ANKRD11c.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
16g.89279455G=CA2241586735ANKRD11c.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=)
16g.89279455G>TCA397149355ANKRD11c.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)
16g.89279456G>ACA497372742ANKRD11c.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
16g.89279456G>CCA497372744ANKRD11c.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
16g.89279456G=CA2241586736ANKRD11c.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=)
16g.89279456G>TCA497372743ANKRD11c.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=)
16g.89279457G>ACA397149356ANKRD11c.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)
16g.89279457G>CCA397149357ANKRD11c.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)
16g.89279457G>TCA397149358ANKRD11c.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)
16g.89279458T>ACA397149359ANKRD11c.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)
16g.89279458T>CCA397149360ANKRD11c.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
16g.89279458T>GCA397149361ANKRD11c.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
16g.89279458T=CA2241586737ANKRD11c.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=)
16g.89279459G>ACA497372748ANKRD11c.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
16g.89279459G>CCA497372749ANKRD11c.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=)
16g.89279459G=CA2241586738ANKRD11c.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=)
16g.89279459G>TCA497372750ANKRD11c.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
16g.89279463dupCA10603284ANKRD11c.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
16g.89279463delCA2695223897ANKRD11c.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?)
16g.89279460G>ACA397149362ANKRD11c.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
16g.89279460G>CCA397149363ANKRD11c.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)
16g.89279460G=CA2241586739ANKRD11c.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=)
16g.89279460G>TCA397149364ANKRD11c.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)
16g.89279461G>ACA397149365ANKRD11c.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)
16g.89279461G>CCA397149367ANKRD11c.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)
16g.89279461G>TCA397149366ANKRD11c.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)
16g.89279462G>ACA497372754ANKRD11c.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
16g.89279462G>CCA497372755ANKRD11c.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=)
16g.89279462G=CA2241586740ANKRD11c.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=)
16g.89279462G>TCA497372756ANKRD11c.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=)
16g.89279463G>ACA397149368ANKRD11c.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
16g.89279463G>CCA397149369ANKRD11c.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)
16g.89279463G=CA2241586741ANKRD11c.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=)
16g.89279463G>TCA397149370ANKRD11c.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)
16g.89279464C>ACA397149371ANKRD11c.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
16g.89279464C=CA2241586742ANKRD11c.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=)
16g.89279464C>GCA397149372ANKRD11c.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
16g.89279464C>TCA397149373ANKRD11c.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
16g.89279465G>ACA497372758ANKRD11c.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
16g.89279465G>CCA397149374ANKRD11c.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
16g.89279465G=CA2241586743ANKRD11c.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=)
16g.89279465G>TCA397149375ANKRD11c.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)
16g.89279466C>ACA397149376ANKRD11c.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)
16g.89279466C>GCA397149377ANKRD11c.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)
16g.89279466C>TCA397149378ANKRD11c.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)
16g.89279467A=CA2241586744ANKRD11c.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=)
16g.89279467A>CCA397149379ANKRD11c.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
16g.89279467A>GCA397149380ANKRD11c.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
16g.89279467A>TCA397149381ANKRD11c.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)
16g.89279468C>ACA397149382ANKRD11c.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)
16g.89279468C>GCA397149383ANKRD11c.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
16g.89279468C>TCA497372764ANKRD11c.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=)
16g.89279469T>ACA397149384ANKRD11c.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
16g.89279469T>CCA397149385ANKRD11c.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
16g.89279469T>GCA397149386ANKRD11c.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
16g.89279470C>ACA397149387ANKRD11c.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)
16g.89279470C>GCA397149388ANKRD11c.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)
16g.89279470C>TCA397149389ANKRD11c.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
16g.89279470_89279473delinsCCTTCA2241586745ANKRD11c.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=)
16g.89279471C>ACA8241297ANKRD11c.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
16g.89279471C=CA2241586746ANKRD11c.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=)
16g.89279471C>GCA397149390ANKRD11c.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)
16g.89279471C>TCA497372771ANKRD11c.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
16g.89279473_89279475delCA624452350ANKRD11c.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
16g.89279472T>ACA397149391ANKRD11c.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)
16g.89279472T>CCA397149392ANKRD11c.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)
16g.89279472T>GCA397149393ANKRD11c.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)
16g.89279473T>ACA397149396ANKRD11c.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
16g.89279473T>CCA397149395ANKRD11c.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
16g.89279473T>GCA397149394ANKRD11c.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
16g.89279473T=CA2241586747ANKRD11c.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=)
16g.89279474C>ACA397149397ANKRD11c.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)
16g.89279474C>GCA397149398ANKRD11c.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)
16g.89279474C>TCA497372774ANKRD11c.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=)
16g.89279475T>ACA397149399ANKRD11c.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
16g.89279475T>CCA397149400ANKRD11c.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
16g.89279475T>GCA397149401ANKRD11c.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
16g.89279476C>ACA397149402ANKRD11c.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)
16g.89279476C>GCA397149403ANKRD11c.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
16g.89279476C>TCA397149404ANKRD11c.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)
16g.89279477G>ACA497372777ANKRD11c.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
16g.89279477G>CCA497372778ANKRD11c.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
16g.89279477G>TCA497372779ANKRD11c.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
16g.89279478G>ACA397149405ANKRD11c.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)
16g.89279478G>CCA397149406ANKRD11c.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
16g.89279478G>TCA397149407ANKRD11c.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)
16g.89279479A=CA2241586749ANKRD11c.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=)
16g.89279479A>CCA397149408ANKRD11c.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
16g.89279479A>GCA397149409ANKRD11c.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
16g.89279479A>TCA397149410ANKRD11c.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
16g.89279479_89279480delinsAGCA2241586748ANKRD11c.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=)
16g.89279480G>ACA497372784ANKRD11c.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
16g.89279480G>CCA497372785ANKRD11c.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=)
16g.89279480G=CA2241586750ANKRD11c.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=)
16g.89279480G>TCA497372786ANKRD11c.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
16g.89279485dupCA2499223774ANKRD11c.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
16g.89279485delCA10603562ANKRD11c.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
16g.89279481G>ACA397149412ANKRD11c.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
16g.89279481G>CCA397149411ANKRD11c.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
16g.89279481G=CA2241586751ANKRD11c.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=)
16g.89279481G>TCA8241298ANKRD11c.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
16g.89279482G>ACA397149413ANKRD11c.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
16g.89279482G>CCA286509533ANKRD11c.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
16g.89279482G=CA2241586752ANKRD11c.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=)
16g.89279482G>TCA397149414ANKRD11c.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
16g.89279483G>ACA497372791ANKRD11c.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
16g.89279483G>CCA497372793ANKRD11c.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=)
16g.89279483G=CA2241586753ANKRD11c.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=)
16g.89279483G>TCA286509538ANKRD11c.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
16g.89279484G>ACA286509547ANKRD11c.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
16g.89279484G>CCA397149415ANKRD11c.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)
16g.89279484G=CA2241586754ANKRD11c.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=)
16g.89279484G>TCA397149416ANKRD11c.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
16g.89279485G>ACA397149417ANKRD11c.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
16g.89279485G>CCA397149418ANKRD11c.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)
16g.89279485G=CA2241586755ANKRD11c.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=)
16g.89279485G>TCA397149419ANKRD11c.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
16g.89279486C>ACA497372423ANKRD11c.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=)
16g.89279486C>GCA497372422ANKRD11c.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
16g.89279486C>TCA497372421ANKRD11c.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
16g.89279487G>ACA286509549ANKRD11c.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
16g.89279487G>CCA397149420ANKRD11c.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)
16g.89279487G=CA2241586756ANKRD11c.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=)
16g.89279487G>TCA397149421ANKRD11c.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
16g.89279488G>ACA397149424ANKRD11c.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
16g.89279488G>CCA397149423ANKRD11c.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
16g.89279488G>TCA397149422ANKRD11c.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)
16g.89279489G>ACA497372429ANKRD11c.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
16g.89279489G>CCA497372430ANKRD11c.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
16g.89279489G=CA2241586757ANKRD11c.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=)
16g.89279489G>TCA497372431ANKRD11c.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
16g.89279490C>ACA397149427ANKRD11c.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
16g.89279490C=CA2241586758ANKRD11c.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=)
16g.89279490C>GCA397149425ANKRD11c.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)
16g.89279490C>TCA397149426ANKRD11c.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
16g.89279491C>ACA397149428ANKRD11c.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
16g.89279491C=CA2241586759ANKRD11c.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=)
16g.89279491C>GCA397149429ANKRD11c.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)
16g.89279491C>TCA397149430ANKRD11c.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
16g.89279492C>ACA397149431ANKRD11c.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
16g.89279492C=CA2241586760ANKRD11c.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=)
16g.89279492C>GCA397149432ANKRD11c.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)
16g.89279492C>TCA497372440ANKRD11c.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
16g.89279494_89279496delCA2580092269ANKRD11c.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
16g.89279493T>ACA397149433ANKRD11c.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)
16g.89279493T>CCA397149434ANKRD11c.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
16g.89279493T>GCA397149435ANKRD11c.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)
16g.89279493T=CA2241586761ANKRD11c.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=)
16g.89279494G>ACA397149436ANKRD11c.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
16g.89279494G>CCA397149437ANKRD11c.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)
16g.89279494G>TCA397149438ANKRD11c.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)
16g.89279495C>ACA397149440ANKRD11c.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)
16g.89279495C>GCA397149439ANKRD11c.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)
16g.89279495C>TCA497372442ANKRD11c.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
16g.89279496T>ACA397149441ANKRD11c.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)
16g.89279496T>CCA286509554ANKRD11c.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
16g.89279496T>GCA397149442ANKRD11c.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)
16g.89279496T=CA2241586762ANKRD11c.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=)
16g.89279497T>ACA397149443ANKRD11c.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)
16g.89279497T>CCA397149444ANKRD11c.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)
16g.89279497T>GCA397149445ANKRD11c.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)
16g.89279498G>ACA497372447ANKRD11c.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=)
16g.89279498G>CCA397149446ANKRD11c.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)
16g.89279498G>TCA397149447ANKRD11c.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
16g.89279499C>ACA397149448ANKRD11c.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)
16g.89279499C=CA2241586763ANKRD11c.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=)
16g.89279499C>GCA397149449ANKRD11c.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)
16g.89279499C>TCA397149450ANKRD11c.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
16g.89279500T>ACA397149451ANKRD11c.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)
16g.89279500T>CCA397149452ANKRD11c.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)
16g.89279500T>GCA397149453ANKRD11c.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)
16g.89279501C>ACA397149454ANKRD11c.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)
16g.89279501C=CA2241586764ANKRD11c.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=)
16g.89279501C>GCA397149455ANKRD11c.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
16g.89279501C>TCA8241299ANKRD11c.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
16g.89279502T>ACA397149456ANKRD11c.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)
16g.89279502T>CCA397149458ANKRD11c.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
16g.89279502T>GCA397149457ANKRD11c.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
16g.89279502T=CA2241586765ANKRD11c.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=)
16g.89279503G>ACA397149459ANKRD11c.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)
16g.89279503G>CCA397149460ANKRD11c.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)
16g.89279503G>TCA397149461ANKRD11c.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)
16g.89279504G>ACA497372457ANKRD11c.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=)
16g.89279504G>CCA397149462ANKRD11c.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)
16g.89279504G>TCA397149463ANKRD11c.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)
16g.89279505T>ACA397149464ANKRD11c.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)
16g.89279505T>CCA397149465ANKRD11c.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
16g.89279505T>GCA397149466ANKRD11c.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)
16g.89279505T=CA2241586766ANKRD11c.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=)
16g.89279506T>ACA397149467ANKRD11c.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)
16g.89279506T>CCA397149468ANKRD11c.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)
16g.89279506T>GCA397149469ANKRD11c.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)
16g.89279507C>ACA497372461ANKRD11c.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=)
16g.89279507C=CA2241586767ANKRD11c.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=)
16g.89279507C>GCA8241300ANKRD11c.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
16g.89279507C>TCA497372459ANKRD11c.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
16g.89279508G>ACA286509557ANKRD11c.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
16g.89279508G>CCA397149470ANKRD11c.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)
16g.89279508G=CA2241586768ANKRD11c.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=)
16g.89279508G>TCA397149471ANKRD11c.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
16g.89279508_89279509delinsATCA2580613927ANKRD11c.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

Number of alleles fetched