Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.89275082A>TCA2634942573ANKRD11c.7569+11T>A (n.7569+11T>A)
c.*7372+11T>A (n.*7372+11T>A)
c.843+11T>A (n.843+11T>A)
n.26+11T>A
c.250+11T>A
c.7467+11T>A (n.7467+11T>A)
c.7272+11T>A (n.7272+11T>A)
c.7440+11T>A (n.7440+11T>A)
 gnomAD v4
16g.89275083G>ACA624452518ANKRD11c.7569+10C>T (n.7569+10C>T)
c.*7372+10C>T (n.*7372+10C>T)
c.843+10C>T (n.843+10C>T)
n.26+10C>T
c.250+10C>T
c.7467+10C>T (n.7467+10C>T)
c.7272+10C>T (n.7272+10C>T)
c.7440+10C>T (n.7440+10C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89275083G=CA2241598765ANKRD11c.7569+10C= (n.7569+10C=)
c.*7372+10C= (n.*7372+10C=)
c.843+10C= (n.843+10C=)
n.26+10C=
c.250+10C=
c.7467+10C= (n.7467+10C=)
c.7272+10C= (n.7272+10C=)
c.7440+10C= (n.7440+10C=)
16g.89275084C>ACA2634942574ANKRD11c.7569+9G>T (n.7569+9G>T)
c.*7372+9G>T (n.*7372+9G>T)
c.843+9G>T (n.843+9G>T)
n.26+9G>T
c.250+9G>T
c.7467+9G>T (n.7467+9G>T)
c.7272+9G>T (n.7272+9G>T)
c.7440+9G>T (n.7440+9G>T)
 gnomAD v4
16g.89275085C>TCA2576097266ANKRD11c.7569+8G>A (n.7569+8G>A)
c.*7372+8G>A (n.*7372+8G>A)
c.843+8G>A (n.843+8G>A)
n.26+8G>A
c.250+8G>A
c.7467+8G>A (n.7467+8G>A)
c.7272+8G>A (n.7272+8G>A)
c.7440+8G>A (n.7440+8G>A)
 gnomAD v4
16g.89275086C=CA2241598766ANKRD11c.7569+7G= (n.7569+7G=)
c.*7372+7G= (n.*7372+7G=)
c.843+7G= (n.843+7G=)
n.26+7G=
c.250+7G=
c.7467+7G= (n.7467+7G=)
c.7272+7G= (n.7272+7G=)
c.7440+7G= (n.7440+7G=)
16g.89275086C>TCA624452519ANKRD11c.7569+7G>A (n.7569+7G>A)
c.*7372+7G>A (n.*7372+7G>A)
c.843+7G>A (n.843+7G>A)
n.26+7G>A
c.250+7G>A
c.7467+7G>A (n.7467+7G>A)
c.7272+7G>A (n.7272+7G>A)
c.7440+7G>A (n.7440+7G>A)
 dbSNP gnomAD v2 gnomAD v4
16g.89275087A>CCA2634942576ANKRD11c.7569+6T>G (n.7569+6T>G)
c.*7372+6T>G (n.*7372+6T>G)
c.843+6T>G (n.843+6T>G)
n.26+6T>G
c.250+6T>G
c.7467+6T>G (n.7467+6T>G)
c.7272+6T>G (n.7272+6T>G)
c.7440+6T>G (n.7440+6T>G)
 gnomAD v4
16g.89275087A>GCA2634942577ANKRD11c.7569+6T>C (n.7569+6T>C)
c.*7372+6T>C (n.*7372+6T>C)
c.843+6T>C (n.843+6T>C)
n.26+6T>C
c.250+6T>C
c.7467+6T>C (n.7467+6T>C)
c.7272+6T>C (n.7272+6T>C)
c.7440+6T>C (n.7440+6T>C)
 gnomAD v4
16g.89275089_89275092dupCA2634942575ANKRD11c.7569+3_7569+6dup (n.7569+3_7569+6dup)
c.*7372+3_*7372+6dup (n.*7372+3_*7372+6dup)
c.843+3_843+6dup (n.843+3_843+6dup)
n.26+3_26+6dup
c.250+3_250+6dup
c.7467+3_7467+6dup (n.7467+3_7467+6dup)
c.7272+3_7272+6dup (n.7272+3_7272+6dup)
c.7440+3_7440+6dup (n.7440+3_7440+6dup)
 gnomAD v4
16g.89275089T>CCA2559604521ANKRD11c.7569+4A>G (n.7569+4A>G)
c.*7372+4A>G (n.*7372+4A>G)
c.843+4A>G (n.843+4A>G)
n.26+4A>G
c.250+4A>G
c.7467+4A>G (n.7467+4A>G)
c.7272+4A>G (n.7272+4A>G)
c.7440+4A>G (n.7440+4A>G)
 ClinVar dbSNP
16g.89275091A>CCA397147770ANKRD11c.7569+2T>G (n.7569+2T>G)
c.*7372+2T>G (n.*7372+2T>G)
c.843+2T>G (n.843+2T>G)
n.26+2T>G
c.250+2T>G
c.7467+2T>G (n.7467+2T>G)
c.7272+2T>G (n.7272+2T>G)
c.7440+2T>G (n.7440+2T>G)
16g.89275091A>GCA397147771ANKRD11c.7569+2T>C (n.7569+2T>C)
c.*7372+2T>C (n.*7372+2T>C)
c.843+2T>C (n.843+2T>C)
n.26+2T>C
c.250+2T>C
c.7467+2T>C (n.7467+2T>C)
c.7272+2T>C (n.7272+2T>C)
c.7440+2T>C (n.7440+2T>C)
16g.89275091A>TCA397147772ANKRD11c.7569+2T>A (n.7569+2T>A)
c.*7372+2T>A (n.*7372+2T>A)
c.843+2T>A (n.843+2T>A)
n.26+2T>A
c.250+2T>A
c.7467+2T>A (n.7467+2T>A)
c.7272+2T>A (n.7272+2T>A)
c.7440+2T>A (n.7440+2T>A)
16g.89275091dupCA2576097267ANKRD11c.7569+2dup (n.7569+2dup)
c.*7372+2dup (n.*7372+2dup)
c.843+2dup (n.843+2dup)
n.26+2dup
c.250+2dup
c.7467+2dup (n.7467+2dup)
c.7272+2dup (n.7272+2dup)
c.7440+2dup (n.7440+2dup)
16g.89275092C>ACA397147773ANKRD11c.7569+1G>T (n.7569+1G>T)
c.*7372+1G>T (n.*7372+1G>T)
c.843+1G>T (n.843+1G>T)
n.26+1G>T
c.250+1G>T
c.7467+1G>T (n.7467+1G>T)
c.7272+1G>T (n.7272+1G>T)
c.7440+1G>T (n.7440+1G>T)
16g.89275092C=CA2241598767ANKRD11c.7569+1G= (n.7569+1G=)
c.*7372+1G= (n.*7372+1G=)
c.843+1G= (n.843+1G=)
n.26+1G=
c.250+1G=
c.7467+1G= (n.7467+1G=)
c.7272+1G= (n.7272+1G=)
c.7440+1G= (n.7440+1G=)
16g.89275092C>GCA397147774ANKRD11c.7569+1G>C (n.7569+1G>C)
c.*7372+1G>C (n.*7372+1G>C)
c.843+1G>C (n.843+1G>C)
n.26+1G>C
c.250+1G>C
c.7467+1G>C (n.7467+1G>C)
c.7272+1G>C (n.7272+1G>C)
c.7440+1G>C (n.7440+1G>C)
16g.89275092C>TCA204700ANKRD11c.7569+1G>A (n.7569+1G>A)
c.*7372+1G>A (n.*7372+1G>A)
c.843+1G>A (n.843+1G>A)
n.26+1G>A
c.250+1G>A
c.7467+1G>A (n.7467+1G>A)
c.7272+1G>A (n.7272+1G>A)
c.7440+1G>A (n.7440+1G>A)
 ClinVar dbSNP
16g.89275093C>ACA497167869ANKRD11c.7569G>T (p.Arg2523=)
c.*7372G>T (n.*7372G>T)
c.843G>T (p.Arg281=)
n.26G>T
c.250G>T
c.7467G>T (p.Arg2489=)
c.7272G>T (p.Arg2424=)
c.7440G>T (p.Arg2480=)
16g.89275093C=CA2241598768ANKRD11c.7569G= (p.Arg2523=)
c.*7372G= (n.*7372G=)
c.843G= (p.Arg281=)
n.26G=
c.250G=
c.7467G= (p.Arg2489=)
c.7272G= (p.Arg2424=)
c.7440G= (p.Arg2480=)
16g.89275093C>GCA497167871ANKRD11c.7569G>C (p.Arg2523=)
c.*7372G>C (n.*7372G>C)
c.843G>C (p.Arg281=)
n.26G>C
c.250G>C
c.7467G>C (p.Arg2489=)
c.7272G>C (p.Arg2424=)
c.7440G>C (p.Arg2480=)
16g.89275093C>TCA497167873ANKRD11c.7569G>A (p.Arg2523=)
c.*7372G>A (n.*7372G>A)
c.843G>A (p.Arg281=)
n.26G>A
c.250G>A
c.7467G>A (p.Arg2489=)
c.7272G>A (p.Arg2424=)
c.7440G>A (p.Arg2480=)
 ClinVar dbSNP gnomAD v4
16g.89275094C>ACA397147775ANKRD11c.7568G>T (p.Arg2523Leu)
c.*7371G>T (n.*7371G>T)
c.842G>T (p.Arg281Leu)
n.25G>T
c.249G>T
c.7466G>T (p.Arg2489Leu)
c.7271G>T (p.Arg2424Leu)
c.7439G>T (p.Arg2480Leu)
16g.89275094C=CA2241598769ANKRD11c.7568G= (p.Arg2523=)
c.*7371G= (n.*7371G=)
c.842G= (p.Arg281=)
n.25G=
c.249G=
c.7466G= (p.Arg2489=)
c.7271G= (p.Arg2424=)
c.7439G= (p.Arg2480=)
16g.89275094C>GCA397147776ANKRD11c.7568G>C (p.Arg2523Pro)
c.*7371G>C (n.*7371G>C)
c.842G>C (p.Arg281Pro)
n.25G>C
c.249G>C
c.7466G>C (p.Arg2489Pro)
c.7271G>C (p.Arg2424Pro)
c.7439G>C (p.Arg2480Pro)
16g.89275094C>TCA397147777ANKRD11c.7568G>A (p.Arg2523Gln)
c.*7371G>A (n.*7371G>A)
c.842G>A (p.Arg281Gln)
n.25G>A
c.249G>A
c.7466G>A (p.Arg2489Gln)
c.7271G>A (p.Arg2424Gln)
c.7439G>A (p.Arg2480Gln)
 dbSNP gnomAD v2
16g.89275095G>ACA397147778ANKRD11c.7567C>T (p.Arg2523Trp)
c.*7370C>T (n.*7370C>T)
c.841C>T (p.Arg281Trp)
n.24C>T
c.248C>T
c.7465C>T (p.Arg2489Trp)
c.7270C>T (p.Arg2424Trp)
c.7438C>T (p.Arg2480Trp)
16g.89275095G>CCA397147779ANKRD11c.7567C>G (p.Arg2523Gly)
c.*7370C>G (n.*7370C>G)
c.841C>G (p.Arg281Gly)
n.24C>G
c.248C>G
c.7465C>G (p.Arg2489Gly)
c.7270C>G (p.Arg2424Gly)
c.7438C>G (p.Arg2480Gly)
16g.89275095G>TCA497167880ANKRD11c.7567C>A (p.Arg2523=)
c.*7370C>A (n.*7370C>A)
c.841C>A (p.Arg281=)
n.24C>A
c.248C>A
c.7465C>A (p.Arg2489=)
c.7270C>A (p.Arg2424=)
c.7438C>A (p.Arg2480=)
16g.89275096C>ACA397147780ANKRD11c.7566G>T (p.Glu2522Asp)
c.*7369G>T (n.*7369G>T)
c.840G>T (p.Glu280Asp)
n.23G>T
c.247G>T
c.7464G>T (p.Glu2488Asp)
c.7269G>T (p.Glu2423Asp)
c.7437G>T (p.Glu2479Asp)
16g.89275096C>GCA397147781ANKRD11c.7566G>C (p.Glu2522Asp)
c.*7369G>C (n.*7369G>C)
c.840G>C (p.Glu280Asp)
n.23G>C
c.247G>C
c.7464G>C (p.Glu2488Asp)
c.7269G>C (p.Glu2423Asp)
c.7437G>C (p.Glu2479Asp)
16g.89275096C>TCA497167885ANKRD11c.7566G>A (p.Glu2522=)
c.*7369G>A (n.*7369G>A)
c.840G>A (p.Glu280=)
n.23G>A
c.247G>A
c.7464G>A (p.Glu2488=)
c.7269G>A (p.Glu2423=)
c.7437G>A (p.Glu2479=)
 gnomAD v4
16g.89275097T>ACA397147782ANKRD11c.7565A>T (p.Glu2522Val)
c.*7368A>T (n.*7368A>T)
c.839A>T (p.Glu280Val)
n.22A>T
c.246A>T
c.7463A>T (p.Glu2488Val)
c.7268A>T (p.Glu2423Val)
c.7436A>T (p.Glu2479Val)
16g.89275097T>CCA397147783ANKRD11c.7565A>G (p.Glu2522Gly)
c.*7368A>G (n.*7368A>G)
c.839A>G (p.Glu280Gly)
n.22A>G
c.246A>G
c.7463A>G (p.Glu2488Gly)
c.7268A>G (p.Glu2423Gly)
c.7436A>G (p.Glu2479Gly)
16g.89275097T>GCA397147784ANKRD11c.7565A>C (p.Glu2522Ala)
c.*7368A>C (n.*7368A>C)
c.839A>C (p.Glu280Ala)
n.22A>C
c.246A>C
c.7463A>C (p.Glu2488Ala)
c.7268A>C (p.Glu2423Ala)
c.7436A>C (p.Glu2479Ala)
16g.89275098C>ACA397147785ANKRD11c.7564G>T (p.Glu2522Ter)
c.*7367G>T (n.*7367G>T)
c.838G>T (p.Glu280Ter)
n.21G>T
c.245G>T
c.7462G>T (p.Glu2488Ter)
c.7267G>T (p.Glu2423Ter)
c.7435G>T (p.Glu2479Ter)
16g.89275098C=CA2241598770ANKRD11c.7564G= (p.Glu2522=)
c.*7367G= (n.*7367G=)
c.838G= (p.Glu280=)
n.21G=
c.245G=
c.7462G= (p.Glu2488=)
c.7267G= (p.Glu2423=)
c.7435G= (p.Glu2479=)
16g.89275098C>GCA397147786ANKRD11c.7564G>C (p.Glu2522Gln)
c.*7367G>C (n.*7367G>C)
c.838G>C (p.Glu280Gln)
n.21G>C
c.245G>C
c.7462G>C (p.Glu2488Gln)
c.7267G>C (p.Glu2423Gln)
c.7435G>C (p.Glu2479Gln)
 gnomAD v4
16g.89275098C>TCA397147787ANKRD11c.7564G>A (p.Glu2522Lys)
c.*7367G>A (n.*7367G>A)
c.838G>A (p.Glu280Lys)
n.21G>A
c.245G>A
c.7462G>A (p.Glu2488Lys)
c.7267G>A (p.Glu2423Lys)
c.7435G>A (p.Glu2479Lys)
 ClinVar dbSNP COSMIC
16g.89275099G>ACA497167896ANKRD11c.7563C>T (p.Ile2521=)
c.*7366C>T (n.*7366C>T)
c.837C>T (p.Ile279=)
n.20C>T
c.244C>T
c.7461C>T (p.Ile2487=)
c.7266C>T (p.Ile2422=)
c.7434C>T (p.Ile2478=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.89275099G>CCA397147788ANKRD11c.7563C>G (p.Ile2521Met)
c.*7366C>G (n.*7366C>G)
c.837C>G (p.Ile279Met)
n.20C>G
c.244C>G
c.7461C>G (p.Ile2487Met)
c.7266C>G (p.Ile2422Met)
c.7434C>G (p.Ile2478Met)
16g.89275099G=CA2241598771ANKRD11c.7563C= (p.Ile2521=)
c.*7366C= (n.*7366C=)
c.837C= (p.Ile279=)
n.20C=
c.244C=
c.7461C= (p.Ile2487=)
c.7266C= (p.Ile2422=)
c.7434C= (p.Ile2478=)
16g.89275099G>TCA497167900ANKRD11c.7563C>A (p.Ile2521=)
c.*7366C>A (n.*7366C>A)
c.837C>A (p.Ile279=)
n.20C>A
c.244C>A
c.7461C>A (p.Ile2487=)
c.7266C>A (p.Ile2422=)
c.7434C>A (p.Ile2478=)
 gnomAD v4
16g.89275100A>CCA397147789ANKRD11c.7562T>G (p.Ile2521Ser)
c.*7365T>G (n.*7365T>G)
c.836T>G (p.Ile279Ser)
n.19T>G
c.243T>G
c.7460T>G (p.Ile2487Ser)
c.7265T>G (p.Ile2422Ser)
c.7433T>G (p.Ile2478Ser)
16g.89275100A>GCA397147790ANKRD11c.7562T>C (p.Ile2521Thr)
c.*7365T>C (n.*7365T>C)
c.836T>C (p.Ile279Thr)
n.19T>C
c.243T>C
c.7460T>C (p.Ile2487Thr)
c.7265T>C (p.Ile2422Thr)
c.7433T>C (p.Ile2478Thr)
16g.89275100A>TCA397147791ANKRD11c.7562T>A (p.Ile2521Asn)
c.*7365T>A (n.*7365T>A)
c.836T>A (p.Ile279Asn)
n.19T>A
c.243T>A
c.7460T>A (p.Ile2487Asn)
c.7265T>A (p.Ile2422Asn)
c.7433T>A (p.Ile2478Asn)
16g.89275101T>ACA397147792ANKRD11c.7561A>T (p.Ile2521Phe)
c.*7364A>T (n.*7364A>T)
c.835A>T (p.Ile279Phe)
n.18A>T
c.242A>T
c.7459A>T (p.Ile2487Phe)
c.7264A>T (p.Ile2422Phe)
c.7432A>T (p.Ile2478Phe)
16g.89275101T>CCA397147793ANKRD11c.7561A>G (p.Ile2521Val)
c.*7364A>G (n.*7364A>G)
c.835A>G (p.Ile279Val)
n.18A>G
c.242A>G
c.7459A>G (p.Ile2487Val)
c.7264A>G (p.Ile2422Val)
c.7432A>G (p.Ile2478Val)
16g.89275101T>GCA397147794ANKRD11c.7561A>C (p.Ile2521Leu)
c.*7364A>C (n.*7364A>C)
c.835A>C (p.Ile279Leu)
n.18A>C
c.242A>C
c.7459A>C (p.Ile2487Leu)
c.7264A>C (p.Ile2422Leu)
c.7432A>C (p.Ile2478Leu)
16g.89275102G>ACA497167909ANKRD11c.7560C>T (p.Ser2520=)
c.*7363C>T (n.*7363C>T)
c.834C>T (p.Ser278=)
n.17C>T
c.241C>T
c.7458C>T (p.Ser2486=)
c.7263C>T (p.Ser2421=)
c.7431C>T (p.Ser2477=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89275102G>CCA397147795ANKRD11c.7560C>G (p.Ser2520Arg)
c.*7363C>G (n.*7363C>G)
c.834C>G (p.Ser278Arg)
n.17C>G
c.241C>G
c.7458C>G (p.Ser2486Arg)
c.7263C>G (p.Ser2421Arg)
c.7431C>G (p.Ser2477Arg)
16g.89275102G=CA2241598772ANKRD11c.7560C= (p.Ser2520=)
c.*7363C= (n.*7363C=)
c.834C= (p.Ser278=)
n.17C=
c.241C=
c.7458C= (p.Ser2486=)
c.7263C= (p.Ser2421=)
c.7431C= (p.Ser2477=)
16g.89275102G>TCA397147796ANKRD11c.7560C>A (p.Ser2520Arg)
c.*7363C>A (n.*7363C>A)
c.834C>A (p.Ser278Arg)
n.17C>A
c.241C>A
c.7458C>A (p.Ser2486Arg)
c.7263C>A (p.Ser2421Arg)
c.7431C>A (p.Ser2477Arg)
16g.89275103C>ACA397147797ANKRD11c.7559G>T (p.Ser2520Ile)
c.*7362G>T (n.*7362G>T)
c.833G>T (p.Ser278Ile)
n.16G>T
c.240G>T
c.7457G>T (p.Ser2486Ile)
c.7262G>T (p.Ser2421Ile)
c.7430G>T (p.Ser2477Ile)
16g.89275103C>GCA397147798ANKRD11c.7559G>C (p.Ser2520Thr)
c.*7362G>C (n.*7362G>C)
c.833G>C (p.Ser278Thr)
n.16G>C
c.240G>C
c.7457G>C (p.Ser2486Thr)
c.7262G>C (p.Ser2421Thr)
c.7430G>C (p.Ser2477Thr)
16g.89275103C>TCA397147799ANKRD11c.7559G>A (p.Ser2520Asn)
c.*7362G>A (n.*7362G>A)
c.833G>A (p.Ser278Asn)
n.16G>A
c.240G>A
c.7457G>A (p.Ser2486Asn)
c.7262G>A (p.Ser2421Asn)
c.7430G>A (p.Ser2477Asn)
16g.89275104T>ACA397147800ANKRD11c.7558A>T (p.Ser2520Cys)
c.*7361A>T (n.*7361A>T)
c.832A>T (p.Ser278Cys)
n.15A>T
c.239A>T
c.7456A>T (p.Ser2486Cys)
c.7261A>T (p.Ser2421Cys)
c.7429A>T (p.Ser2477Cys)
16g.89275104T>CCA397147801ANKRD11c.7558A>G (p.Ser2520Gly)
c.*7361A>G (n.*7361A>G)
c.832A>G (p.Ser278Gly)
n.15A>G
c.239A>G
c.7456A>G (p.Ser2486Gly)
c.7261A>G (p.Ser2421Gly)
c.7429A>G (p.Ser2477Gly)
16g.89275104T>GCA397147802ANKRD11c.7558A>C (p.Ser2520Arg)
c.*7361A>C (n.*7361A>C)
c.832A>C (p.Ser278Arg)
n.15A>C
c.239A>C
c.7456A>C (p.Ser2486Arg)
c.7261A>C (p.Ser2421Arg)
c.7429A>C (p.Ser2477Arg)
16g.89275105G>ACA497167924ANKRD11c.7557C>T (p.His2519=)
c.*7360C>T (n.*7360C>T)
c.831C>T (p.His277=)
n.14C>T
c.238C>T
c.7455C>T (p.His2485=)
c.7260C>T (p.His2420=)
c.7428C>T (p.His2476=)
16g.89275105G>CCA397147803ANKRD11c.7557C>G (p.His2519Gln)
c.*7360C>G (n.*7360C>G)
c.831C>G (p.His277Gln)
n.14C>G
c.238C>G
c.7455C>G (p.His2485Gln)
c.7260C>G (p.His2420Gln)
c.7428C>G (p.His2476Gln)
16g.89275105G>TCA397147804ANKRD11c.7557C>A (p.His2519Gln)
c.*7360C>A (n.*7360C>A)
c.831C>A (p.His277Gln)
n.14C>A
c.238C>A
c.7455C>A (p.His2485Gln)
c.7260C>A (p.His2420Gln)
c.7428C>A (p.His2476Gln)
16g.89275106T>ACA397147805ANKRD11c.7556A>T (p.His2519Leu)
c.*7359A>T (n.*7359A>T)
c.830A>T (p.His277Leu)
n.13A>T
c.237A>T
c.7454A>T (p.His2485Leu)
c.7259A>T (p.His2420Leu)
c.7427A>T (p.His2476Leu)
 ClinVar dbSNP
16g.89275106T>CCA397147806ANKRD11c.7556A>G (p.His2519Arg)
c.*7359A>G (n.*7359A>G)
c.830A>G (p.His277Arg)
n.13A>G
c.237A>G
c.7454A>G (p.His2485Arg)
c.7259A>G (p.His2420Arg)
c.7427A>G (p.His2476Arg)
16g.89275106T>GCA397147807ANKRD11c.7556A>C (p.His2519Pro)
c.*7359A>C (n.*7359A>C)
c.830A>C (p.His277Pro)
n.13A>C
c.237A>C
c.7454A>C (p.His2485Pro)
c.7259A>C (p.His2420Pro)
c.7427A>C (p.His2476Pro)
16g.89275107G>ACA397147808ANKRD11c.7555C>T (p.His2519Tyr)
c.*7358C>T (n.*7358C>T)
c.829C>T (p.His277Tyr)
n.12C>T
c.236C>T
c.7453C>T (p.His2485Tyr)
c.7258C>T (p.His2420Tyr)
c.7426C>T (p.His2476Tyr)
16g.89275107G>CCA397147809ANKRD11c.7555C>G (p.His2519Asp)
c.*7358C>G (n.*7358C>G)
c.829C>G (p.His277Asp)
n.12C>G
c.236C>G
c.7453C>G (p.His2485Asp)
c.7258C>G (p.His2420Asp)
c.7426C>G (p.His2476Asp)
16g.89275107G>TCA397147810ANKRD11c.7555C>A (p.His2519Asn)
c.*7358C>A (n.*7358C>A)
c.829C>A (p.His277Asn)
n.12C>A
c.236C>A
c.7453C>A (p.His2485Asn)
c.7258C>A (p.His2420Asn)
c.7426C>A (p.His2476Asn)
16g.89275108C>ACA397147811ANKRD11c.7554G>T (p.Gln2518His)
c.*7357G>T (n.*7357G>T)
c.828G>T (p.Gln276His)
n.11G>T
c.235G>T
c.7452G>T (p.Gln2484His)
c.7257G>T (p.Gln2419His)
c.7425G>T (p.Gln2475His)
16g.89275108C=CA2241598773ANKRD11c.7554G= (p.Gln2518=)
c.*7357G= (n.*7357G=)
c.828G= (p.Gln276=)
n.11G=
c.235G=
c.7452G= (p.Gln2484=)
c.7257G= (p.Gln2419=)
c.7425G= (p.Gln2475=)
16g.89275108C>GCA397147812ANKRD11c.7554G>C (p.Gln2518His)
c.*7357G>C (n.*7357G>C)
c.828G>C (p.Gln276His)
n.11G>C
c.235G>C
c.7452G>C (p.Gln2484His)
c.7257G>C (p.Gln2419His)
c.7425G>C (p.Gln2475His)
16g.89275108C>TCA497167935ANKRD11c.7554G>A (p.Gln2518=)
c.*7357G>A (n.*7357G>A)
c.828G>A (p.Gln276=)
n.11G>A
c.235G>A
c.7452G>A (p.Gln2484=)
c.7257G>A (p.Gln2419=)
c.7425G>A (p.Gln2475=)
 dbSNP gnomAD v4
16g.89275109T>ACA397147813ANKRD11c.7553A>T (p.Gln2518Leu)
c.*7356A>T (n.*7356A>T)
c.827A>T (p.Gln276Leu)
n.10A>T
c.234A>T
c.7451A>T (p.Gln2484Leu)
c.7256A>T (p.Gln2419Leu)
c.7424A>T (p.Gln2475Leu)
16g.89275109T>CCA397147814ANKRD11c.7553A>G (p.Gln2518Arg)
c.*7356A>G (n.*7356A>G)
c.827A>G (p.Gln276Arg)
n.10A>G
c.234A>G
c.7451A>G (p.Gln2484Arg)
c.7256A>G (p.Gln2419Arg)
c.7424A>G (p.Gln2475Arg)
16g.89275109T>GCA397147815ANKRD11c.7553A>C (p.Gln2518Pro)
c.*7356A>C (n.*7356A>C)
c.827A>C (p.Gln276Pro)
n.10A>C
c.234A>C
c.7451A>C (p.Gln2484Pro)
c.7256A>C (p.Gln2419Pro)
c.7424A>C (p.Gln2475Pro)
16g.89275110G>ACA10603346ANKRD11c.7552C>T (p.Gln2518Ter)
c.*7355C>T (n.*7355C>T)
c.826C>T (p.Gln276Ter)
n.9C>T
c.233C>T
c.7450C>T (p.Gln2484Ter)
c.7255C>T (p.Gln2419Ter)
c.7423C>T (p.Gln2475Ter)
 ClinVar dbSNP
16g.89275110G>CCA397147816ANKRD11c.7552C>G (p.Gln2518Glu)
c.*7355C>G (n.*7355C>G)
c.826C>G (p.Gln276Glu)
n.9C>G
c.233C>G
c.7450C>G (p.Gln2484Glu)
c.7255C>G (p.Gln2419Glu)
c.7423C>G (p.Gln2475Glu)
16g.89275110G=CA2241598774ANKRD11c.7552C= (p.Gln2518=)
c.*7355C= (n.*7355C=)
c.826C= (p.Gln276=)
n.9C=
c.233C=
c.7450C= (p.Gln2484=)
c.7255C= (p.Gln2419=)
c.7423C= (p.Gln2475=)
16g.89275110G>TCA397147817ANKRD11c.7552C>A (p.Gln2518Lys)
c.*7355C>A (n.*7355C>A)
c.826C>A (p.Gln276Lys)
n.9C>A
c.233C>A
c.7450C>A (p.Gln2484Lys)
c.7255C>A (p.Gln2419Lys)
c.7423C>A (p.Gln2475Lys)
16g.89275111T>ACA497167945ANKRD11c.7551A>T (p.Leu2517=)
c.*7354A>T (n.*7354A>T)
c.825A>T (p.Leu275=)
n.8A>T
c.232A>T
c.7449A>T (p.Leu2483=)
c.7254A>T (p.Leu2418=)
c.7422A>T (p.Leu2474=)
16g.89275111T>CCA497167947ANKRD11c.7551A>G (p.Leu2517=)
c.*7354A>G (n.*7354A>G)
c.825A>G (p.Leu275=)
n.8A>G
c.232A>G
c.7449A>G (p.Leu2483=)
c.7254A>G (p.Leu2418=)
c.7422A>G (p.Leu2474=)
16g.89275111T>GCA497167949ANKRD11c.7551A>C (p.Leu2517=)
c.*7354A>C (n.*7354A>C)
c.825A>C (p.Leu275=)
n.8A>C
c.232A>C
c.7449A>C (p.Leu2483=)
c.7254A>C (p.Leu2418=)
c.7422A>C (p.Leu2474=)
16g.89275112A>CCA397147818ANKRD11c.7550T>G (p.Leu2517Arg)
c.*7353T>G (n.*7353T>G)
c.824T>G (p.Leu275Arg)
n.7T>G
c.231T>G
c.7448T>G (p.Leu2483Arg)
c.7253T>G (p.Leu2418Arg)
c.7421T>G (p.Leu2474Arg)
16g.89275112A>GCA397147819ANKRD11c.7550T>C (p.Leu2517Pro)
c.*7353T>C (n.*7353T>C)
c.824T>C (p.Leu275Pro)
n.7T>C
c.231T>C
c.7448T>C (p.Leu2483Pro)
c.7253T>C (p.Leu2418Pro)
c.7421T>C (p.Leu2474Pro)
16g.89275112A>TCA397147820ANKRD11c.7550T>A (p.Leu2517Gln)
c.*7353T>A (n.*7353T>A)
c.824T>A (p.Leu275Gln)
n.7T>A
c.231T>A
c.7448T>A (p.Leu2483Gln)
c.7253T>A (p.Leu2418Gln)
c.7421T>A (p.Leu2474Gln)
16g.89275113G>ACA497167957ANKRD11c.7549C>T (p.Leu2517=)
c.*7352C>T (n.*7352C>T)
c.823C>T (p.Leu275=)
n.6C>T
c.230C>T
c.7447C>T (p.Leu2483=)
c.7252C>T (p.Leu2418=)
c.7420C>T (p.Leu2474=)
16g.89275113G>CCA397147821ANKRD11c.7549C>G (p.Leu2517Val)
c.*7352C>G (n.*7352C>G)
c.823C>G (p.Leu275Val)
n.6C>G
c.230C>G
c.7447C>G (p.Leu2483Val)
c.7252C>G (p.Leu2418Val)
c.7420C>G (p.Leu2474Val)
16g.89275113G>TCA397147822ANKRD11c.7549C>A (p.Leu2517Ile)
c.*7352C>A (n.*7352C>A)
c.823C>A (p.Leu275Ile)
n.6C>A
c.230C>A
c.7447C>A (p.Leu2483Ile)
c.7252C>A (p.Leu2418Ile)
c.7420C>A (p.Leu2474Ile)
16g.89275114A=CA2241598775ANKRD11c.7548T= (p.Arg2516=)
c.*7351T= (n.*7351T=)
c.822T= (p.Arg274=)
n.5T=
c.229T=
c.7446T= (p.Arg2482=)
c.7251T= (p.Arg2417=)
c.7419T= (p.Arg2473=)
16g.89275114A>CCA8241112ANKRD11c.7548T>G (p.Arg2516=)
c.*7351T>G (n.*7351T>G)
c.822T>G (p.Arg274=)
n.5T>G
c.229T>G
c.7446T>G (p.Arg2482=)
c.7251T>G (p.Arg2417=)
c.7419T>G (p.Arg2473=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89275114A>GCA497167964ANKRD11c.7548T>C (p.Arg2516=)
c.*7351T>C (n.*7351T>C)
c.822T>C (p.Arg274=)
n.5T>C
c.229T>C
c.7446T>C (p.Arg2482=)
c.7251T>C (p.Arg2417=)
c.7419T>C (p.Arg2473=)
16g.89275114A>TCA497167966ANKRD11c.7548T>A (p.Arg2516=)
c.*7351T>A (n.*7351T>A)
c.822T>A (p.Arg274=)
n.5T>A
c.229T>A
c.7446T>A (p.Arg2482=)
c.7251T>A (p.Arg2417=)
c.7419T>A (p.Arg2473=)
16g.89275115C>ACA397147825ANKRD11c.7547G>T (p.Arg2516Leu)
c.*7350G>T (n.*7350G>T)
c.821G>T (p.Arg274Leu)
n.4G>T
c.228G>T
c.7445G>T (p.Arg2482Leu)
c.7250G>T (p.Arg2417Leu)
c.7418G>T (p.Arg2473Leu)
 dbSNP
16g.89275115C=CA2241598776ANKRD11c.7547G= (p.Arg2516=)
c.*7350G= (n.*7350G=)
c.821G= (p.Arg274=)
n.4G=
c.228G=
c.7445G= (p.Arg2482=)
c.7250G= (p.Arg2417=)
c.7418G= (p.Arg2473=)
16g.89275115C>GCA397147823ANKRD11c.7547G>C (p.Arg2516Pro)
c.*7350G>C (n.*7350G>C)
c.821G>C (p.Arg274Pro)
n.4G>C
c.228G>C
c.7445G>C (p.Arg2482Pro)
c.7250G>C (p.Arg2417Pro)
c.7418G>C (p.Arg2473Pro)
 gnomAD v4
16g.89275115C>TCA397147824ANKRD11c.7547G>A (p.Arg2516His)
c.*7350G>A (n.*7350G>A)
c.821G>A (p.Arg274His)
n.4G>A
c.228G>A
c.7445G>A (p.Arg2482His)
c.7250G>A (p.Arg2417His)
c.7418G>A (p.Arg2473His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89275116G>ACA8241113ANKRD11c.7546C>T (p.Arg2516Cys)
c.*7349C>T (n.*7349C>T)
c.820C>T (p.Arg274Cys)
n.3C>T
c.227C>T
c.7444C>T (p.Arg2482Cys)
c.7249C>T (p.Arg2417Cys)
c.7417C>T (p.Arg2473Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89275116G>CCA397147826ANKRD11c.7546C>G (p.Arg2516Gly)
c.*7349C>G (n.*7349C>G)
c.820C>G (p.Arg274Gly)
n.3C>G
c.227C>G
c.7444C>G (p.Arg2482Gly)
c.7249C>G (p.Arg2417Gly)
c.7417C>G (p.Arg2473Gly)
16g.89275116G=CA2241598777ANKRD11c.7546C= (p.Arg2516=)
c.*7349C= (n.*7349C=)
c.820C= (p.Arg274=)
n.3C=
c.227C=
c.7444C= (p.Arg2482=)
c.7249C= (p.Arg2417=)
c.7417C= (p.Arg2473=)
16g.89275116G>TCA397147827ANKRD11c.7546C>A (p.Arg2516Ser)
c.*7349C>A (n.*7349C>A)
c.820C>A (p.Arg274Ser)
n.3C>A
c.227C>A
c.7444C>A (p.Arg2482Ser)
c.7249C>A (p.Arg2417Ser)
c.7417C>A (p.Arg2473Ser)
 gnomAD v4
16g.89275117C>ACA497167980ANKRD11c.7545G>T (p.Leu2515=)
c.*7348G>T (n.*7348G>T)
c.819G>T (p.Leu273=)
n.2G>T
c.226G>T
c.7443G>T (p.Leu2481=)
c.7248G>T (p.Leu2416=)
c.7416G>T (p.Leu2472=)
16g.89275117C>GCA497167981ANKRD11c.7545G>C (p.Leu2515=)
c.*7348G>C (n.*7348G>C)
c.819G>C (p.Leu273=)
n.2G>C
c.226G>C
c.7443G>C (p.Leu2481=)
c.7248G>C (p.Leu2416=)
c.7416G>C (p.Leu2472=)
16g.89275117C>TCA497167984ANKRD11c.7545G>A (p.Leu2515=)
c.*7348G>A (n.*7348G>A)
c.819G>A (p.Leu273=)
n.2G>A
c.226G>A
c.7443G>A (p.Leu2481=)
c.7248G>A (p.Leu2416=)
c.7416G>A (p.Leu2472=)
 gnomAD v4
16g.89275118A>CCA397147828ANKRD11c.7544T>G (p.Leu2515Arg)
c.*7347T>G (n.*7347T>G)
c.818T>G (p.Leu273Arg)
n.1T>G
c.225T>G
c.7442T>G (p.Leu2481Arg)
c.7247T>G (p.Leu2416Arg)
c.7415T>G (p.Leu2472Arg)
16g.89275118A>GCA397147829ANKRD11c.7544T>C (p.Leu2515Pro)
c.*7347T>C (n.*7347T>C)
c.818T>C (p.Leu273Pro)
n.1T>C
c.225T>C
c.7442T>C (p.Leu2481Pro)
c.7247T>C (p.Leu2416Pro)
c.7415T>C (p.Leu2472Pro)
 ClinVar dbSNP
16g.89275118A>TCA397147830ANKRD11c.7544T>A (p.Leu2515Gln)
c.*7347T>A (n.*7347T>A)
c.818T>A (p.Leu273Gln)
n.1T>A
c.225T>A
c.7442T>A (p.Leu2481Gln)
c.7247T>A (p.Leu2416Gln)
c.7415T>A (p.Leu2472Gln)
16g.89275119G>ACA497167992ANKRD11c.7543C>T (p.Leu2515=)
c.*7346C>T (n.*7346C>T)
c.817C>T (p.Leu273=)
c.224C>T
c.7441C>T (p.Leu2481=)
c.7246C>T (p.Leu2416=)
c.7414C>T (p.Leu2472=)
16g.89275119G>CCA397147831ANKRD11c.7543C>G (p.Leu2515Val)
c.*7346C>G (n.*7346C>G)
c.817C>G (p.Leu273Val)
c.224C>G
c.7441C>G (p.Leu2481Val)
c.7246C>G (p.Leu2416Val)
c.7414C>G (p.Leu2472Val)
16g.89275119G>TCA397147832ANKRD11c.7543C>A (p.Leu2515Met)
c.*7346C>A (n.*7346C>A)
c.817C>A (p.Leu273Met)
c.224C>A
c.7441C>A (p.Leu2481Met)
c.7246C>A (p.Leu2416Met)
c.7414C>A (p.Leu2472Met)
16g.89275120C>ACA397147833ANKRD11c.7542G>T (p.Lys2514Asn)
c.*7345G>T (n.*7345G>T)
c.816G>T (p.Lys272Asn)
c.223G>T
c.7440G>T (p.Lys2480Asn)
c.7245G>T (p.Lys2415Asn)
c.7413G>T (p.Lys2471Asn)
 gnomAD v4
16g.89275120C>GCA397147834ANKRD11c.7542G>C (p.Lys2514Asn)
c.*7345G>C (n.*7345G>C)
c.816G>C (p.Lys272Asn)
c.223G>C
c.7440G>C (p.Lys2480Asn)
c.7245G>C (p.Lys2415Asn)
c.7413G>C (p.Lys2471Asn)
16g.89275120C>TCA497168000ANKRD11c.7542G>A (p.Lys2514=)
c.*7345G>A (n.*7345G>A)
c.816G>A (p.Lys272=)
c.223G>A
c.7440G>A (p.Lys2480=)
c.7245G>A (p.Lys2415=)
c.7413G>A (p.Lys2471=)
16g.89275121T>ACA397147835ANKRD11c.7541A>T (p.Lys2514Met)
c.*7344A>T (n.*7344A>T)
c.815A>T (p.Lys272Met)
c.222A>T
c.7439A>T (p.Lys2480Met)
c.7244A>T (p.Lys2415Met)
c.7412A>T (p.Lys2471Met)
16g.89275121T>CCA397147836ANKRD11c.7541A>G (p.Lys2514Arg)
c.*7344A>G (n.*7344A>G)
c.815A>G (p.Lys272Arg)
c.222A>G
c.7439A>G (p.Lys2480Arg)
c.7244A>G (p.Lys2415Arg)
c.7412A>G (p.Lys2471Arg)
16g.89275121T>GCA397147837ANKRD11c.7541A>C (p.Lys2514Thr)
c.*7344A>C (n.*7344A>C)
c.815A>C (p.Lys272Thr)
c.222A>C
c.7439A>C (p.Lys2480Thr)
c.7244A>C (p.Lys2415Thr)
c.7412A>C (p.Lys2471Thr)
16g.89275122T>ACA397147840ANKRD11c.7540A>T (p.Lys2514Ter)
c.*7343A>T (n.*7343A>T)
c.814A>T (p.Lys272Ter)
c.221A>T
c.7438A>T (p.Lys2480Ter)
c.7243A>T (p.Lys2415Ter)
c.7411A>T (p.Lys2471Ter)
16g.89275122T>CCA397147839ANKRD11c.7540A>G (p.Lys2514Glu)
c.*7343A>G (n.*7343A>G)
c.814A>G (p.Lys272Glu)
c.221A>G
c.7438A>G (p.Lys2480Glu)
c.7243A>G (p.Lys2415Glu)
c.7411A>G (p.Lys2471Glu)
16g.89275122T>GCA397147838ANKRD11c.7540A>C (p.Lys2514Gln)
c.*7343A>C (n.*7343A>C)
c.814A>C (p.Lys272Gln)
c.221A>C
c.7438A>C (p.Lys2480Gln)
c.7243A>C (p.Lys2415Gln)
c.7411A>C (p.Lys2471Gln)
 dbSNP
16g.89275122T=CA2241598778ANKRD11c.7540A= (p.Lys2514=)
c.*7343A= (n.*7343A=)
c.814A= (p.Lys272=)
c.221A=
c.7438A= (p.Lys2480=)
c.7243A= (p.Lys2415=)
c.7411A= (p.Lys2471=)
16g.89275123T>ACA497168015ANKRD11c.7539A>T (p.Gly2513=)
c.*7342A>T (n.*7342A>T)
c.813A>T (p.Gly271=)
c.220A>T
c.7437A>T (p.Gly2479=)
c.7242A>T (p.Gly2414=)
c.7410A>T (p.Gly2470=)
16g.89275123T>CCA497168013ANKRD11c.7539A>G (p.Gly2513=)
c.*7342A>G (n.*7342A>G)
c.813A>G (p.Gly271=)
c.220A>G
c.7437A>G (p.Gly2479=)
c.7242A>G (p.Gly2414=)
c.7410A>G (p.Gly2470=)
16g.89275123T>GCA497168011ANKRD11c.7539A>C (p.Gly2513=)
c.*7342A>C (n.*7342A>C)
c.813A>C (p.Gly271=)
c.220A>C
c.7437A>C (p.Gly2479=)
c.7242A>C (p.Gly2414=)
c.7410A>C (p.Gly2470=)
16g.89275124C>ACA286505928ANKRD11c.7538G>T (p.Gly2513Val)
c.*7341G>T (n.*7341G>T)
c.812G>T (p.Gly271Val)
c.219G>T
c.7436G>T (p.Gly2479Val)
c.7241G>T (p.Gly2414Val)
c.7409G>T (p.Gly2470Val)
 dbSNP
16g.89275124C=CA2241598779ANKRD11c.7538G= (p.Gly2513=)
c.*7341G= (n.*7341G=)
c.812G= (p.Gly271=)
c.219G=
c.7436G= (p.Gly2479=)
c.7241G= (p.Gly2414=)
c.7409G= (p.Gly2470=)
16g.89275124C>GCA397147841ANKRD11c.7538G>C (p.Gly2513Ala)
c.*7341G>C (n.*7341G>C)
c.812G>C (p.Gly271Ala)
c.219G>C
c.7436G>C (p.Gly2479Ala)
c.7241G>C (p.Gly2414Ala)
c.7409G>C (p.Gly2470Ala)
16g.89275124C>TCA397147842ANKRD11c.7538G>A (p.Gly2513Glu)
c.*7341G>A (n.*7341G>A)
c.812G>A (p.Gly271Glu)
c.219G>A
c.7436G>A (p.Gly2479Glu)
c.7241G>A (p.Gly2414Glu)
c.7409G>A (p.Gly2470Glu)
16g.89275125C>ACA397147843ANKRD11c.7537G>T (p.Gly2513Ter)
c.*7340G>T (n.*7340G>T)
c.811G>T (p.Gly271Ter)
c.218G>T
c.7435G>T (p.Gly2479Ter)
c.7240G>T (p.Gly2414Ter)
c.7408G>T (p.Gly2470Ter)
16g.89275125C>GCA397147844ANKRD11c.7537G>C (p.Gly2513Arg)
c.*7340G>C (n.*7340G>C)
c.811G>C (p.Gly271Arg)
c.218G>C
c.7435G>C (p.Gly2479Arg)
c.7240G>C (p.Gly2414Arg)
c.7408G>C (p.Gly2470Arg)
16g.89275125C>TCA397147845ANKRD11c.7537G>A (p.Gly2513Arg)
c.*7340G>A (n.*7340G>A)
c.811G>A (p.Gly271Arg)
c.218G>A
c.7435G>A (p.Gly2479Arg)
c.7240G>A (p.Gly2414Arg)
c.7408G>A (p.Gly2470Arg)
16g.89275126C>ACA497168027ANKRD11c.7536G>T (p.Arg2512=)
c.*7339G>T (n.*7339G>T)
c.810G>T (p.Arg270=)
c.217G>T
c.7434G>T (p.Arg2478=)
c.7239G>T (p.Arg2413=)
c.7407G>T (p.Arg2469=)
 dbSNP gnomAD v3 gnomAD v4
16g.89275126C=CA2241598780ANKRD11c.7536G= (p.Arg2512=)
c.*7339G= (n.*7339G=)
c.810G= (p.Arg270=)
c.217G=
c.7434G= (p.Arg2478=)
c.7239G= (p.Arg2413=)
c.7407G= (p.Arg2469=)
16g.89275126C>GCA497168028ANKRD11c.7536G>C (p.Arg2512=)
c.*7339G>C (n.*7339G>C)
c.810G>C (p.Arg270=)
c.217G>C
c.7434G>C (p.Arg2478=)
c.7239G>C (p.Arg2413=)
c.7407G>C (p.Arg2469=)
 gnomAD v4
16g.89275126C>TCA286505930ANKRD11c.7536G>A (p.Arg2512=)
c.*7339G>A (n.*7339G>A)
c.810G>A (p.Arg270=)
c.217G>A
c.7434G>A (p.Arg2478=)
c.7239G>A (p.Arg2413=)
c.7407G>A (p.Arg2469=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89275127C>ACA397147846ANKRD11c.7535G>T (p.Arg2512Leu)
c.*7338G>T (n.*7338G>T)
c.809G>T (p.Arg270Leu)
c.216G>T
c.7433G>T (p.Arg2478Leu)
c.7238G>T (p.Arg2413Leu)
c.7406G>T (p.Arg2469Leu)
 gnomAD v4
16g.89275127C=CA2241598781ANKRD11c.7535G= (p.Arg2512=)
c.*7338G= (n.*7338G=)
c.809G= (p.Arg270=)
c.216G=
c.7433G= (p.Arg2478=)
c.7238G= (p.Arg2413=)
c.7406G= (p.Arg2469=)
16g.89275127C>GCA397147847ANKRD11c.7535G>C (p.Arg2512Pro)
c.*7338G>C (n.*7338G>C)
c.809G>C (p.Arg270Pro)
c.216G>C
c.7433G>C (p.Arg2478Pro)
c.7238G>C (p.Arg2413Pro)
c.7406G>C (p.Arg2469Pro)
16g.89275127C>TCA397147848ANKRD11c.7535G>A (p.Arg2512Gln)
c.*7338G>A (n.*7338G>A)
c.809G>A (p.Arg270Gln)
c.216G>A
c.7433G>A (p.Arg2478Gln)
c.7238G>A (p.Arg2413Gln)
c.7406G>A (p.Arg2469Gln)
 ClinVar dbSNP
16g.89275128G>ACA397147849ANKRD11c.7534C>T (p.Arg2512Trp)
c.*7337C>T (n.*7337C>T)
c.808C>T (p.Arg270Trp)
c.215C>T
c.7432C>T (p.Arg2478Trp)
c.7237C>T (p.Arg2413Trp)
c.7405C>T (p.Arg2469Trp)
 ClinVar dbSNP
16g.89275128G>CCA397147850ANKRD11c.7534C>G (p.Arg2512Gly)
c.*7337C>G (n.*7337C>G)
c.808C>G (p.Arg270Gly)
c.215C>G
c.7432C>G (p.Arg2478Gly)
c.7237C>G (p.Arg2413Gly)
c.7405C>G (p.Arg2469Gly)
16g.89275128G=CA2241598782ANKRD11c.7534C= (p.Arg2512=)
c.*7337C= (n.*7337C=)
c.808C= (p.Arg270=)
c.215C=
c.7432C= (p.Arg2478=)
c.7237C= (p.Arg2413=)
c.7405C= (p.Arg2469=)
16g.89275128G>TCA497168039ANKRD11c.7534C>A (p.Arg2512=)
c.*7337C>A (n.*7337C>A)
c.808C>A (p.Arg270=)
c.215C>A
c.7432C>A (p.Arg2478=)
c.7237C>A (p.Arg2413=)
c.7405C>A (p.Arg2469=)
 gnomAD v4
16g.89275129G>ACA497168043ANKRD11c.7533C>T (p.Val2511=)
c.*7336C>T (n.*7336C>T)
c.807C>T (p.Val269=)
c.214C>T
c.7431C>T (p.Val2477=)
c.7236C>T (p.Val2412=)
c.7404C>T (p.Val2468=)
16g.89275129G>CCA497168045ANKRD11c.7533C>G (p.Val2511=)
c.*7336C>G (n.*7336C>G)
c.807C>G (p.Val269=)
c.214C>G
c.7431C>G (p.Val2477=)
c.7236C>G (p.Val2412=)
c.7404C>G (p.Val2468=)
16g.89275129G>TCA497168047ANKRD11c.7533C>A (p.Val2511=)
c.*7336C>A (n.*7336C>A)
c.807C>A (p.Val269=)
c.214C>A
c.7431C>A (p.Val2477=)
c.7236C>A (p.Val2412=)
c.7404C>A (p.Val2468=)
16g.89275130A>CCA397147851ANKRD11c.7532T>G (p.Val2511Gly)
c.*7335T>G (n.*7335T>G)
c.806T>G (p.Val269Gly)
c.213T>G
c.7430T>G (p.Val2477Gly)
c.7235T>G (p.Val2412Gly)
c.7403T>G (p.Val2468Gly)
16g.89275130A>GCA397147852ANKRD11c.7532T>C (p.Val2511Ala)
c.*7335T>C (n.*7335T>C)
c.806T>C (p.Val269Ala)
c.213T>C
c.7430T>C (p.Val2477Ala)
c.7235T>C (p.Val2412Ala)
c.7403T>C (p.Val2468Ala)
16g.89275130A>TCA397147853ANKRD11c.7532T>A (p.Val2511Asp)
c.*7335T>A (n.*7335T>A)
c.806T>A (p.Val269Asp)
c.213T>A
c.7430T>A (p.Val2477Asp)
c.7235T>A (p.Val2412Asp)
c.7403T>A (p.Val2468Asp)
16g.89275131C>ACA8241114ANKRD11c.7531G>T (p.Val2511Phe)
c.*7334G>T (n.*7334G>T)
c.805G>T (p.Val269Phe)
c.212G>T
c.7429G>T (p.Val2477Phe)
c.7234G>T (p.Val2412Phe)
c.7402G>T (p.Val2468Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89275131C=CA2241598783ANKRD11c.7531G= (p.Val2511=)
c.*7334G= (n.*7334G=)
c.805G= (p.Val269=)
c.212G=
c.7429G= (p.Val2477=)
c.7234G= (p.Val2412=)
c.7402G= (p.Val2468=)
16g.89275131C>GCA397147854ANKRD11c.7531G>C (p.Val2511Leu)
c.*7334G>C (n.*7334G>C)
c.805G>C (p.Val269Leu)
c.212G>C
c.7429G>C (p.Val2477Leu)
c.7234G>C (p.Val2412Leu)
c.7402G>C (p.Val2468Leu)
16g.89275131C>TCA286505933ANKRD11c.7531G>A (p.Val2511Ile)
c.*7334G>A (n.*7334G>A)
c.805G>A (p.Val269Ile)
c.212G>A
c.7429G>A (p.Val2477Ile)
c.7234G>A (p.Val2412Ile)
c.7402G>A (p.Val2468Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89275132G>ACA8241115ANKRD11c.7530C>T (p.Ala2510=)
c.*7333C>T (n.*7333C>T)
c.804C>T (p.Ala268=)
c.211C>T
c.7428C>T (p.Ala2476=)
c.7233C>T (p.Ala2411=)
c.7401C>T (p.Ala2467=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89275132G>CCA497168496ANKRD11c.7530C>G (p.Ala2510=)
c.*7333C>G (n.*7333C>G)
c.804C>G (p.Ala268=)
c.211C>G
c.7428C>G (p.Ala2476=)
c.7233C>G (p.Ala2411=)
c.7401C>G (p.Ala2467=)
16g.89275132G=CA2241598784ANKRD11c.7530C= (p.Ala2510=)
c.*7333C= (n.*7333C=)
c.804C= (p.Ala268=)
c.211C=
c.7428C= (p.Ala2476=)
c.7233C= (p.Ala2411=)
c.7401C= (p.Ala2467=)
16g.89275132G>TCA497168498ANKRD11c.7530C>A (p.Ala2510=)
c.*7333C>A (n.*7333C>A)
c.804C>A (p.Ala268=)
c.211C>A
c.7428C>A (p.Ala2476=)
c.7233C>A (p.Ala2411=)
c.7401C>A (p.Ala2467=)
16g.89275133G>ACA397147855ANKRD11c.7529C>T (p.Ala2510Val)
c.*7332C>T (n.*7332C>T)
c.803C>T (p.Ala268Val)
c.210C>T
c.7427C>T (p.Ala2476Val)
c.7232C>T (p.Ala2411Val)
c.7400C>T (p.Ala2467Val)
16g.89275133G>CCA397147856ANKRD11c.7529C>G (p.Ala2510Gly)
c.*7332C>G (n.*7332C>G)
c.803C>G (p.Ala268Gly)
c.210C>G
c.7427C>G (p.Ala2476Gly)
c.7232C>G (p.Ala2411Gly)
c.7400C>G (p.Ala2467Gly)
16g.89275133G>TCA397147857ANKRD11c.7529C>A (p.Ala2510Asp)
c.*7332C>A (n.*7332C>A)
c.803C>A (p.Ala268Asp)
c.210C>A
c.7427C>A (p.Ala2476Asp)
c.7232C>A (p.Ala2411Asp)
c.7400C>A (p.Ala2467Asp)
16g.89275134C>ACA8241116ANKRD11c.7528G>T (p.Ala2510Ser)
c.*7331G>T (n.*7331G>T)
c.802G>T (p.Ala268Ser)
c.209G>T
c.7426G>T (p.Ala2476Ser)
c.7231G>T (p.Ala2411Ser)
c.7399G>T (p.Ala2467Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89275134C=CA2241598785ANKRD11c.7528G= (p.Ala2510=)
c.*7331G= (n.*7331G=)
c.802G= (p.Ala268=)
c.209G=
c.7426G= (p.Ala2476=)
c.7231G= (p.Ala2411=)
c.7399G= (p.Ala2467=)
16g.89275134C>GCA397147858ANKRD11c.7528G>C (p.Ala2510Pro)
c.*7331G>C (n.*7331G>C)
c.802G>C (p.Ala268Pro)
c.209G>C
c.7426G>C (p.Ala2476Pro)
c.7231G>C (p.Ala2411Pro)
c.7399G>C (p.Ala2467Pro)
16g.89275134C>TCA397147859ANKRD11c.7528G>A (p.Ala2510Thr)
c.*7331G>A (n.*7331G>A)
c.802G>A (p.Ala268Thr)
c.209G>A
c.7426G>A (p.Ala2476Thr)
c.7231G>A (p.Ala2411Thr)
c.7399G>A (p.Ala2467Thr)
16g.89275135C>ACA397147860ANKRD11c.7527G>T (p.Glu2509Asp)
c.*7330G>T (n.*7330G>T)
c.801G>T (p.Glu267Asp)
c.208G>T
c.7425G>T (p.Glu2475Asp)
c.7230G>T (p.Glu2410Asp)
c.7398G>T (p.Glu2466Asp)
16g.89275135C=CA2241598786ANKRD11c.7527G= (p.Glu2509=)
c.*7330G= (n.*7330G=)
c.801G= (p.Glu267=)
c.208G=
c.7425G= (p.Glu2475=)
c.7230G= (p.Glu2410=)
c.7398G= (p.Glu2466=)
16g.89275135C>GCA397147861ANKRD11c.7527G>C (p.Glu2509Asp)
c.*7330G>C (n.*7330G>C)
c.801G>C (p.Glu267Asp)
c.208G>C
c.7425G>C (p.Glu2475Asp)
c.7230G>C (p.Glu2410Asp)
c.7398G>C (p.Glu2466Asp)
 ClinVar gnomAD v4
16g.89275135C>TCA497168512ANKRD11c.7527G>A (p.Glu2509=)
c.*7330G>A (n.*7330G>A)
c.801G>A (p.Glu267=)
c.208G>A
c.7425G>A (p.Glu2475=)
c.7230G>A (p.Glu2410=)
c.7398G>A (p.Glu2466=)
 dbSNP gnomAD v2 gnomAD v4
16g.89275136T>ACA397147862ANKRD11c.7526A>T (p.Glu2509Val)
c.*7329A>T (n.*7329A>T)
c.800A>T (p.Glu267Val)
c.207A>T
c.7424A>T (p.Glu2475Val)
c.7229A>T (p.Glu2410Val)
c.7397A>T (p.Glu2466Val)
16g.89275136T>CCA397147863ANKRD11c.7526A>G (p.Glu2509Gly)
c.*7329A>G (n.*7329A>G)
c.800A>G (p.Glu267Gly)
c.207A>G
c.7424A>G (p.Glu2475Gly)
c.7229A>G (p.Glu2410Gly)
c.7397A>G (p.Glu2466Gly)
16g.89275136T>GCA397147864ANKRD11c.7526A>C (p.Glu2509Ala)
c.*7329A>C (n.*7329A>C)
c.800A>C (p.Glu267Ala)
c.207A>C
c.7424A>C (p.Glu2475Ala)
c.7229A>C (p.Glu2410Ala)
c.7397A>C (p.Glu2466Ala)
16g.89275137C>ACA397147867ANKRD11c.7525G>T (p.Glu2509Ter)
c.*7328G>T (n.*7328G>T)
c.799G>T (p.Glu267Ter)
c.206G>T
c.7423G>T (p.Glu2475Ter)
c.7228G>T (p.Glu2410Ter)
c.7396G>T (p.Glu2466Ter)
16g.89275137C>GCA397147866ANKRD11c.7525G>C (p.Glu2509Gln)
c.*7328G>C (n.*7328G>C)
c.799G>C (p.Glu267Gln)
c.206G>C
c.7423G>C (p.Glu2475Gln)
c.7228G>C (p.Glu2410Gln)
c.7396G>C (p.Glu2466Gln)
16g.89275137C>TCA397147865ANKRD11c.7525G>A (p.Glu2509Lys)
c.*7328G>A (n.*7328G>A)
c.799G>A (p.Glu267Lys)
c.206G>A
c.7423G>A (p.Glu2475Lys)
c.7228G>A (p.Glu2410Lys)
c.7396G>A (p.Glu2466Lys)
16g.89275138C>ACA397147868ANKRD11c.7524G>T (p.Gln2508His)
c.*7327G>T (n.*7327G>T)
c.798G>T (p.Gln266His)
c.205G>T
c.7422G>T (p.Gln2474His)
c.7227G>T (p.Gln2409His)
c.7395G>T (p.Gln2465His)
16g.89275138C=CA2241598787ANKRD11c.7524G= (p.Gln2508=)
c.*7327G= (n.*7327G=)
c.798G= (p.Gln266=)
c.205G=
c.7422G= (p.Gln2474=)
c.7227G= (p.Gln2409=)
c.7395G= (p.Gln2465=)
16g.89275138C>GCA397147869ANKRD11c.7524G>C (p.Gln2508His)
c.*7327G>C (n.*7327G>C)
c.798G>C (p.Gln266His)
c.205G>C
c.7422G>C (p.Gln2474His)
c.7227G>C (p.Gln2409His)
c.7395G>C (p.Gln2465His)
16g.89275138C>TCA497168527ANKRD11c.7524G>A (p.Gln2508=)
c.*7327G>A (n.*7327G>A)
c.798G>A (p.Gln266=)
c.205G>A
c.7422G>A (p.Gln2474=)
c.7227G>A (p.Gln2409=)
c.7395G>A (p.Gln2465=)
 dbSNP gnomAD v3 gnomAD v4
16g.89275139T>ACA397147870ANKRD11c.7523A>T (p.Gln2508Leu)
c.*7326A>T (n.*7326A>T)
c.797A>T (p.Gln266Leu)
c.204A>T
c.7421A>T (p.Gln2474Leu)
c.7226A>T (p.Gln2409Leu)
c.7394A>T (p.Gln2465Leu)
 ClinVar dbSNP
16g.89275139T>CCA397147871ANKRD11c.7523A>G (p.Gln2508Arg)
c.*7326A>G (n.*7326A>G)
c.797A>G (p.Gln266Arg)
c.204A>G
c.7421A>G (p.Gln2474Arg)
c.7226A>G (p.Gln2409Arg)
c.7394A>G (p.Gln2465Arg)
16g.89275139T>GCA397147872ANKRD11c.7523A>C (p.Gln2508Pro)
c.*7326A>C (n.*7326A>C)
c.797A>C (p.Gln266Pro)
c.204A>C
c.7421A>C (p.Gln2474Pro)
c.7226A>C (p.Gln2409Pro)
c.7394A>C (p.Gln2465Pro)
16g.89275140G>ACA397147873ANKRD11c.7522C>T (p.Gln2508Ter)
c.*7325C>T (n.*7325C>T)
c.796C>T (p.Gln266Ter)
c.203C>T
c.7420C>T (p.Gln2474Ter)
c.7225C>T (p.Gln2409Ter)
c.7393C>T (p.Gln2465Ter)
16g.89275140G>CCA397147874ANKRD11c.7522C>G (p.Gln2508Glu)
c.*7325C>G (n.*7325C>G)
c.796C>G (p.Gln266Glu)
c.203C>G
c.7420C>G (p.Gln2474Glu)
c.7225C>G (p.Gln2409Glu)
c.7393C>G (p.Gln2465Glu)
16g.89275140G>TCA397147875ANKRD11c.7522C>A (p.Gln2508Lys)
c.*7325C>A (n.*7325C>A)
c.796C>A (p.Gln266Lys)
c.203C>A
c.7420C>A (p.Gln2474Lys)
c.7225C>A (p.Gln2409Lys)
c.7393C>A (p.Gln2465Lys)
 ClinVar
16g.89275143_89275154delCA658761825ANKRD11c.7511_7522del (p.Leu2504_Gln2507del)
c.*7314_*7325del (n.*7314_*7325del)
c.785_796del (p.Leu262_Gln265del)
c.192_203del
c.7409_7420del (p.Leu2470_Gln2473del)
c.7214_7225del (p.Leu2405_Gln2408del)
c.7382_7393del (p.Leu2461_Gln2464del)
16g.89275141C>ACA397147876ANKRD11c.7521G>T (p.Gln2507His)
c.*7324G>T (n.*7324G>T)
c.795G>T (p.Gln265His)
c.202G>T
c.7419G>T (p.Gln2473His)
c.7224G>T (p.Gln2408His)
c.7392G>T (p.Gln2464His)
 gnomAD v4
16g.89275141C>GCA397147877ANKRD11c.7521G>C (p.Gln2507His)
c.*7324G>C (n.*7324G>C)
c.795G>C (p.Gln265His)
c.202G>C
c.7419G>C (p.Gln2473His)
c.7224G>C (p.Gln2408His)
c.7392G>C (p.Gln2464His)
16g.89275141C>TCA497168544ANKRD11c.7521G>A (p.Gln2507=)
c.*7324G>A (n.*7324G>A)
c.795G>A (p.Gln265=)
c.202G>A
c.7419G>A (p.Gln2473=)
c.7224G>A (p.Gln2408=)
c.7392G>A (p.Gln2464=)
 gnomAD v4
16g.89275142T>ACA397147878ANKRD11c.7520A>T (p.Gln2507Leu)
c.*7323A>T (n.*7323A>T)
c.794A>T (p.Gln265Leu)
c.201A>T
c.7418A>T (p.Gln2473Leu)
c.7223A>T (p.Gln2408Leu)
c.7391A>T (p.Gln2464Leu)
16g.89275142T>CCA397147879ANKRD11c.7520A>G (p.Gln2507Arg)
c.*7323A>G (n.*7323A>G)
c.794A>G (p.Gln265Arg)
c.201A>G
c.7418A>G (p.Gln2473Arg)
c.7223A>G (p.Gln2408Arg)
c.7391A>G (p.Gln2464Arg)
16g.89275142T>GCA397147880ANKRD11c.7520A>C (p.Gln2507Pro)
c.*7323A>C (n.*7323A>C)
c.794A>C (p.Gln265Pro)
c.201A>C
c.7418A>C (p.Gln2473Pro)
c.7223A>C (p.Gln2408Pro)
c.7391A>C (p.Gln2464Pro)
16g.89275143G>ACA8241117ANKRD11c.7519C>T (p.Gln2507Ter)
c.*7322C>T (n.*7322C>T)
c.793C>T (p.Gln265Ter)
c.200C>T
c.7417C>T (p.Gln2473Ter)
c.7222C>T (p.Gln2408Ter)
c.7390C>T (p.Gln2464Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89275143G>CCA397147881ANKRD11c.7519C>G (p.Gln2507Glu)
c.*7322C>G (n.*7322C>G)
c.793C>G (p.Gln265Glu)
c.200C>G
c.7417C>G (p.Gln2473Glu)
c.7222C>G (p.Gln2408Glu)
c.7390C>G (p.Gln2464Glu)
16g.89275143G=CA2241598788ANKRD11c.7519C= (p.Gln2507=)
c.*7322C= (n.*7322C=)
c.793C= (p.Gln265=)
c.200C=
c.7417C= (p.Gln2473=)
c.7222C= (p.Gln2408=)
c.7390C= (p.Gln2464=)
16g.89275143G>TCA8241118ANKRD11c.7519C>A (p.Gln2507Lys)
c.*7322C>A (n.*7322C>A)
c.793C>A (p.Gln265Lys)
c.200C>A
c.7417C>A (p.Gln2473Lys)
c.7222C>A (p.Gln2408Lys)
c.7390C>A (p.Gln2464Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89275144C>ACA397147882ANKRD11c.7518G>T (p.Arg2506Ser)
c.*7321G>T (n.*7321G>T)
c.792G>T (p.Arg264Ser)
c.199G>T
c.7416G>T (p.Arg2472Ser)
c.7221G>T (p.Arg2407Ser)
c.7389G>T (p.Arg2463Ser)
16g.89275144C=CA2241598789ANKRD11c.7518G= (p.Arg2506=)
c.*7321G= (n.*7321G=)
c.792G= (p.Arg264=)
c.199G=
c.7416G= (p.Arg2472=)
c.7221G= (p.Arg2407=)
c.7389G= (p.Arg2463=)
16g.89275144C>GCA397147883ANKRD11c.7518G>C (p.Arg2506Ser)
c.*7321G>C (n.*7321G>C)
c.792G>C (p.Arg264Ser)
c.199G>C
c.7416G>C (p.Arg2472Ser)
c.7221G>C (p.Arg2407Ser)
c.7389G>C (p.Arg2463Ser)
16g.89275144C>TCA8241119ANKRD11c.7518G>A (p.Arg2506=)
c.*7321G>A (n.*7321G>A)
c.792G>A (p.Arg264=)
c.199G>A
c.7416G>A (p.Arg2472=)
c.7221G>A (p.Arg2407=)
c.7389G>A (p.Arg2463=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.89275145C>ACA397147884ANKRD11c.7517G>T (p.Arg2506Met)
c.*7320G>T (n.*7320G>T)
c.791G>T (p.Arg264Met)
c.198G>T
c.7415G>T (p.Arg2472Met)
c.7220G>T (p.Arg2407Met)
c.7388G>T (p.Arg2463Met)
16g.89275145C=CA2241598790ANKRD11c.7517G= (p.Arg2506=)
c.*7320G= (n.*7320G=)
c.791G= (p.Arg264=)
c.198G=
c.7415G= (p.Arg2472=)
c.7220G= (p.Arg2407=)
c.7388G= (p.Arg2463=)
16g.89275145C>GCA397147885ANKRD11c.7517G>C (p.Arg2506Thr)
c.*7320G>C (n.*7320G>C)
c.791G>C (p.Arg264Thr)
c.198G>C
c.7415G>C (p.Arg2472Thr)
c.7220G>C (p.Arg2407Thr)
c.7388G>C (p.Arg2463Thr)
16g.89275145C>TCA8241120ANKRD11c.7517G>A (p.Arg2506Lys)
c.*7320G>A (n.*7320G>A)
c.791G>A (p.Arg264Lys)
c.198G>A
c.7415G>A (p.Arg2472Lys)
c.7220G>A (p.Arg2407Lys)
c.7388G>A (p.Arg2463Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89275146T>ACA397147886ANKRD11c.7516A>T (p.Arg2506Trp)
c.*7319A>T (n.*7319A>T)
c.790A>T (p.Arg264Trp)
c.197A>T
c.7414A>T (p.Arg2472Trp)
c.7219A>T (p.Arg2407Trp)
c.7387A>T (p.Arg2463Trp)
16g.89275146T>CCA397147887ANKRD11c.7516A>G (p.Arg2506Gly)
c.*7319A>G (n.*7319A>G)
c.790A>G (p.Arg264Gly)
c.197A>G
c.7414A>G (p.Arg2472Gly)
c.7219A>G (p.Arg2407Gly)
c.7387A>G (p.Arg2463Gly)
 dbSNP gnomAD v2 gnomAD v4
16g.89275146T>GCA497168568ANKRD11c.7516A>C (p.Arg2506=)
c.*7319A>C (n.*7319A>C)
c.790A>C (p.Arg264=)
c.197A>C
c.7414A>C (p.Arg2472=)
c.7219A>C (p.Arg2407=)
c.7387A>C (p.Arg2463=)
16g.89275146T=CA2241598791ANKRD11c.7516A= (p.Arg2506=)
c.*7319A= (n.*7319A=)
c.790A= (p.Arg264=)
c.197A=
c.7414A= (p.Arg2472=)
c.7219A= (p.Arg2407=)
c.7387A= (p.Arg2463=)
16g.89275147G>ACA497168575ANKRD11c.7515C>T (p.Phe2505=)
c.*7318C>T (n.*7318C>T)
c.789C>T (p.Phe263=)
c.196C>T
c.7413C>T (p.Phe2471=)
c.7218C>T (p.Phe2406=)
c.7386C>T (p.Phe2462=)
 dbSNP gnomAD v3 gnomAD v4
16g.89275147G>CCA397147888ANKRD11c.7515C>G (p.Phe2505Leu)
c.*7318C>G (n.*7318C>G)
c.789C>G (p.Phe263Leu)
c.196C>G
c.7413C>G (p.Phe2471Leu)
c.7218C>G (p.Phe2406Leu)
c.7386C>G (p.Phe2462Leu)
16g.89275147G=CA2241598792ANKRD11c.7515C= (p.Phe2505=)
c.*7318C= (n.*7318C=)
c.789C= (p.Phe263=)
c.196C=
c.7413C= (p.Phe2471=)
c.7218C= (p.Phe2406=)
c.7386C= (p.Phe2462=)
16g.89275147G>TCA397147889ANKRD11c.7515C>A (p.Phe2505Leu)
c.*7318C>A (n.*7318C>A)
c.789C>A (p.Phe263Leu)
c.196C>A
c.7413C>A (p.Phe2471Leu)
c.7218C>A (p.Phe2406Leu)
c.7386C>A (p.Phe2462Leu)
16g.89275148A>CCA397147890ANKRD11c.7514T>G (p.Phe2505Cys)
c.*7317T>G (n.*7317T>G)
c.788T>G (p.Phe263Cys)
c.195T>G
c.7412T>G (p.Phe2471Cys)
c.7217T>G (p.Phe2406Cys)
c.7385T>G (p.Phe2462Cys)
16g.89275148A>GCA397147891ANKRD11c.7514T>C (p.Phe2505Ser)
c.*7317T>C (n.*7317T>C)
c.788T>C (p.Phe263Ser)
c.195T>C
c.7412T>C (p.Phe2471Ser)
c.7217T>C (p.Phe2406Ser)
c.7385T>C (p.Phe2462Ser)
16g.89275148A>TCA397147892ANKRD11c.7514T>A (p.Phe2505Tyr)
c.*7317T>A (n.*7317T>A)
c.788T>A (p.Phe263Tyr)
c.195T>A
c.7412T>A (p.Phe2471Tyr)
c.7217T>A (p.Phe2406Tyr)
c.7385T>A (p.Phe2462Tyr)
16g.89275149A>CCA397147895ANKRD11c.7513T>G (p.Phe2505Val)
c.*7316T>G (n.*7316T>G)
c.787T>G (p.Phe263Val)
c.194T>G
c.7411T>G (p.Phe2471Val)
c.7216T>G (p.Phe2406Val)
c.7384T>G (p.Phe2462Val)
16g.89275149A>GCA397147894ANKRD11c.7513T>C (p.Phe2505Leu)
c.*7316T>C (n.*7316T>C)
c.787T>C (p.Phe263Leu)
c.194T>C
c.7411T>C (p.Phe2471Leu)
c.7216T>C (p.Phe2406Leu)
c.7384T>C (p.Phe2462Leu)
16g.89275149A>TCA397147893ANKRD11c.7513T>A (p.Phe2505Ile)
c.*7316T>A (n.*7316T>A)
c.787T>A (p.Phe263Ile)
c.194T>A
c.7411T>A (p.Phe2471Ile)
c.7216T>A (p.Phe2406Ile)
c.7384T>A (p.Phe2462Ile)
16g.89275150C>ACA497168585ANKRD11c.7512G>T (p.Leu2504=)
c.*7315G>T (n.*7315G>T)
c.786G>T (p.Leu262=)
c.193G>T
c.7410G>T (p.Leu2470=)
c.7215G>T (p.Leu2405=)
c.7383G>T (p.Leu2461=)
 gnomAD v4
16g.89275150C=CA2241598793ANKRD11c.7512G= (p.Leu2504=)
c.*7315G= (n.*7315G=)
c.786G= (p.Leu262=)
c.193G=
c.7410G= (p.Leu2470=)
c.7215G= (p.Leu2405=)
c.7383G= (p.Leu2461=)
16g.89275150C>GCA497168588ANKRD11c.7512G>C (p.Leu2504=)
c.*7315G>C (n.*7315G>C)
c.786G>C (p.Leu262=)
c.193G>C
c.7410G>C (p.Leu2470=)
c.7215G>C (p.Leu2405=)
c.7383G>C (p.Leu2461=)
16g.89275150C>TCA8241121ANKRD11c.7512G>A (p.Leu2504=)
c.*7315G>A (n.*7315G>A)
c.786G>A (p.Leu262=)
c.193G>A
c.7410G>A (p.Leu2470=)
c.7215G>A (p.Leu2405=)
c.7383G>A (p.Leu2461=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89275151A>CCA397147896ANKRD11c.7511T>G (p.Leu2504Arg)
c.*7314T>G (n.*7314T>G)
c.785T>G (p.Leu262Arg)
c.192T>G
c.7409T>G (p.Leu2470Arg)
c.7214T>G (p.Leu2405Arg)
c.7382T>G (p.Leu2461Arg)
16g.89275151A>GCA397147897ANKRD11c.7511T>C (p.Leu2504Pro)
c.*7314T>C (n.*7314T>C)
c.785T>C (p.Leu262Pro)
c.192T>C
c.7409T>C (p.Leu2470Pro)
c.7214T>C (p.Leu2405Pro)
c.7382T>C (p.Leu2461Pro)
16g.89275151A>TCA397147898ANKRD11c.7511T>A (p.Leu2504Gln)
c.*7314T>A (n.*7314T>A)
c.785T>A (p.Leu262Gln)
c.192T>A
c.7409T>A (p.Leu2470Gln)
c.7214T>A (p.Leu2405Gln)
c.7382T>A (p.Leu2461Gln)
16g.89275151_89275154dupCA2695223891ANKRD11c.7508_7511dup (p.Phe2505AlafsTer28)
c.*7311_*7314dup (n.*7311_*7314dup)
c.782_785dup (p.Phe263AlafsTer28)
c.189_192dup
c.7406_7409dup (p.Phe2471AlafsTer28)
c.7211_7214dup (p.Phe2406AlafsTer28)
c.7379_7382dup (p.Phe2462AlafsTer28)
16g.89275152G>ACA8241122ANKRD11c.7510C>T (p.Leu2504=)
c.*7313C>T (n.*7313C>T)
c.784C>T (p.Leu262=)
c.191C>T
c.7408C>T (p.Leu2470=)
c.7213C>T (p.Leu2405=)
c.7381C>T (p.Leu2461=)
 dbSNP ExAC gnomAD v2
16g.89275152G>CCA397147899ANKRD11c.7510C>G (p.Leu2504Val)
c.*7313C>G (n.*7313C>G)
c.784C>G (p.Leu262Val)
c.191C>G
c.7408C>G (p.Leu2470Val)
c.7213C>G (p.Leu2405Val)
c.7381C>G (p.Leu2461Val)
16g.89275152G=CA2241598794ANKRD11c.7510C= (p.Leu2504=)
c.*7313C= (n.*7313C=)
c.784C= (p.Leu262=)
c.191C=
c.7408C= (p.Leu2470=)
c.7213C= (p.Leu2405=)
c.7381C= (p.Leu2461=)
16g.89275152G>TCA397147900ANKRD11c.7510C>A (p.Leu2504Met)
c.*7313C>A (n.*7313C>A)
c.784C>A (p.Leu262Met)
c.191C>A
c.7408C>A (p.Leu2470Met)
c.7213C>A (p.Leu2405Met)
c.7381C>A (p.Leu2461Met)
16g.89275153C>ACA397147901ANKRD11c.7509G>T (p.Glu2503Asp)
c.*7312G>T (n.*7312G>T)
c.783G>T (p.Glu261Asp)
c.190G>T
c.7407G>T (p.Glu2469Asp)
c.7212G>T (p.Glu2404Asp)
c.7380G>T (p.Glu2460Asp)
 dbSNP gnomAD v4
16g.89275153C=CA2241598795ANKRD11c.7509G= (p.Glu2503=)
c.*7312G= (n.*7312G=)
c.783G= (p.Glu261=)
c.190G=
c.7407G= (p.Glu2469=)
c.7212G= (p.Glu2404=)
c.7380G= (p.Glu2460=)
16g.89275153C>GCA397147902ANKRD11c.7509G>C (p.Glu2503Asp)
c.*7312G>C (n.*7312G>C)
c.783G>C (p.Glu261Asp)
c.190G>C
c.7407G>C (p.Glu2469Asp)
c.7212G>C (p.Glu2404Asp)
c.7380G>C (p.Glu2460Asp)
16g.89275153C>TCA286505940ANKRD11c.7509G>A (p.Glu2503=)
c.*7312G>A (n.*7312G>A)
c.783G>A (p.Glu261=)
c.190G>A
c.7407G>A (p.Glu2469=)
c.7212G>A (p.Glu2404=)
c.7380G>A (p.Glu2460=)
 dbSNP gnomAD v4
16g.89275154T>ACA397147903ANKRD11c.7508A>T (p.Glu2503Val)
c.*7311A>T (n.*7311A>T)
c.782A>T (p.Glu261Val)
c.189A>T
c.7406A>T (p.Glu2469Val)
c.7211A>T (p.Glu2404Val)
c.7379A>T (p.Glu2460Val)
16g.89275154T>CCA397147904ANKRD11c.7508A>G (p.Glu2503Gly)
c.*7311A>G (n.*7311A>G)
c.782A>G (p.Glu261Gly)
c.189A>G
c.7406A>G (p.Glu2469Gly)
c.7211A>G (p.Glu2404Gly)
c.7379A>G (p.Glu2460Gly)
16g.89275154T>GCA397147905ANKRD11c.7508A>C (p.Glu2503Ala)
c.*7311A>C (n.*7311A>C)
c.782A>C (p.Glu261Ala)
c.189A>C
c.7406A>C (p.Glu2469Ala)
c.7211A>C (p.Glu2404Ala)
c.7379A>C (p.Glu2460Ala)
16g.89275155C>ACA397147908ANKRD11c.7507G>T (p.Glu2503Ter)
c.*7310G>T (n.*7310G>T)
c.781G>T (p.Glu261Ter)
c.188G>T
c.7405G>T (p.Glu2469Ter)
c.7210G>T (p.Glu2404Ter)
c.7378G>T (p.Glu2460Ter)
16g.89275155C>GCA397147907ANKRD11c.7507G>C (p.Glu2503Gln)
c.*7310G>C (n.*7310G>C)
c.781G>C (p.Glu261Gln)
c.188G>C
c.7405G>C (p.Glu2469Gln)
c.7210G>C (p.Glu2404Gln)
c.7378G>C (p.Glu2460Gln)
 gnomAD v4
16g.89275155C>TCA397147906ANKRD11c.7507G>A (p.Glu2503Lys)
c.*7310G>A (n.*7310G>A)
c.781G>A (p.Glu261Lys)
c.188G>A
c.7405G>A (p.Glu2469Lys)
c.7210G>A (p.Glu2404Lys)
c.7378G>A (p.Glu2460Lys)
16g.89275156C>ACA397147909ANKRD11c.7506G>T (p.Lys2502Asn)
c.*7309G>T (n.*7309G>T)
c.780G>T (p.Lys260Asn)
c.187G>T
c.7404G>T (p.Lys2468Asn)
c.7209G>T (p.Lys2403Asn)
c.7377G>T (p.Lys2459Asn)
16g.89275156C=CA2241598796ANKRD11c.7506G= (p.Lys2502=)
c.*7309G= (n.*7309G=)
c.780G= (p.Lys260=)
c.187G=
c.7404G= (p.Lys2468=)
c.7209G= (p.Lys2403=)
c.7377G= (p.Lys2459=)
16g.89275156C>GCA397147910ANKRD11c.7506G>C (p.Lys2502Asn)
c.*7309G>C (n.*7309G>C)
c.780G>C (p.Lys260Asn)
c.187G>C
c.7404G>C (p.Lys2468Asn)
c.7209G>C (p.Lys2403Asn)
c.7377G>C (p.Lys2459Asn)
16g.89275156C>TCA497168607ANKRD11c.7506G>A (p.Lys2502=)
c.*7309G>A (n.*7309G>A)
c.780G>A (p.Lys260=)
c.187G>A
c.7404G>A (p.Lys2468=)
c.7209G>A (p.Lys2403=)
c.7377G>A (p.Lys2459=)
 dbSNP gnomAD v2 gnomAD v4
16g.89275157T>ACA397147911ANKRD11c.7505A>T (p.Lys2502Met)
c.*7308A>T (n.*7308A>T)
c.779A>T (p.Lys260Met)
c.186A>T
c.7403A>T (p.Lys2468Met)
c.7208A>T (p.Lys2403Met)
c.7376A>T (p.Lys2459Met)
16g.89275157T>CCA397147912ANKRD11c.7505A>G (p.Lys2502Arg)
c.*7308A>G (n.*7308A>G)
c.779A>G (p.Lys260Arg)
c.186A>G
c.7403A>G (p.Lys2468Arg)
c.7208A>G (p.Lys2403Arg)
c.7376A>G (p.Lys2459Arg)
 dbSNP
16g.89275157T>GCA397147913ANKRD11c.7505A>C (p.Lys2502Thr)
c.*7308A>C (n.*7308A>C)
c.779A>C (p.Lys260Thr)
c.186A>C
c.7403A>C (p.Lys2468Thr)
c.7208A>C (p.Lys2403Thr)
c.7376A>C (p.Lys2459Thr)
16g.89275157T=CA2241598797ANKRD11c.7505A= (p.Lys2502=)
c.*7308A= (n.*7308A=)
c.779A= (p.Lys260=)
c.186A=
c.7403A= (p.Lys2468=)
c.7208A= (p.Lys2403=)
c.7376A= (p.Lys2459=)
16g.89275158T>ACA397147914ANKRD11c.7504A>T (p.Lys2502Ter)
c.*7307A>T (n.*7307A>T)
c.778A>T (p.Lys260Ter)
c.185A>T
c.7402A>T (p.Lys2468Ter)
c.7207A>T (p.Lys2403Ter)
c.7375A>T (p.Lys2459Ter)
16g.89275158T>CCA397147915ANKRD11c.7504A>G (p.Lys2502Glu)
c.*7307A>G (n.*7307A>G)
c.778A>G (p.Lys260Glu)
c.185A>G
c.7402A>G (p.Lys2468Glu)
c.7207A>G (p.Lys2403Glu)
c.7375A>G (p.Lys2459Glu)
 ClinVar dbSNP gnomAD v4
16g.89275158T>GCA397147916ANKRD11c.7504A>C (p.Lys2502Gln)
c.*7307A>C (n.*7307A>C)
c.778A>C (p.Lys260Gln)
c.185A>C
c.7402A>C (p.Lys2468Gln)
c.7207A>C (p.Lys2403Gln)
c.7375A>C (p.Lys2459Gln)
16g.89275158T=CA2241598798ANKRD11c.7504A= (p.Lys2502=)
c.*7307A= (n.*7307A=)
c.778A= (p.Lys260=)
c.185A=
c.7402A= (p.Lys2468=)
c.7207A= (p.Lys2403=)
c.7375A= (p.Lys2459=)
16g.89275159C>ACA497168618ANKRD11c.7503G>T (p.Leu2501=)
c.*7306G>T (n.*7306G>T)
c.777G>T (p.Leu259=)
c.184G>T
c.7401G>T (p.Leu2467=)
c.7206G>T (p.Leu2402=)
c.7374G>T (p.Leu2458=)
16g.89275159C>GCA497168620ANKRD11c.7503G>C (p.Leu2501=)
c.*7306G>C (n.*7306G>C)
c.777G>C (p.Leu259=)
c.184G>C
c.7401G>C (p.Leu2467=)
c.7206G>C (p.Leu2402=)
c.7374G>C (p.Leu2458=)
16g.89275159C>TCA497168623ANKRD11c.7503G>A (p.Leu2501=)
c.*7306G>A (n.*7306G>A)
c.777G>A (p.Leu259=)
c.184G>A
c.7401G>A (p.Leu2467=)
c.7206G>A (p.Leu2402=)
c.7374G>A (p.Leu2458=)
16g.89275160A>CCA397147917ANKRD11c.7502T>G (p.Leu2501Arg)
c.*7305T>G (n.*7305T>G)
c.776T>G (p.Leu259Arg)
c.183T>G
c.7400T>G (p.Leu2467Arg)
c.7205T>G (p.Leu2402Arg)
c.7373T>G (p.Leu2458Arg)
16g.89275160A>GCA397147918ANKRD11c.7502T>C (p.Leu2501Pro)
c.*7305T>C (n.*7305T>C)
c.776T>C (p.Leu259Pro)
c.183T>C
c.7400T>C (p.Leu2467Pro)
c.7205T>C (p.Leu2402Pro)
c.7373T>C (p.Leu2458Pro)
 gnomAD v4
16g.89275160A>TCA397147919ANKRD11c.7502T>A (p.Leu2501Gln)
c.*7305T>A (n.*7305T>A)
c.776T>A (p.Leu259Gln)
c.183T>A
c.7400T>A (p.Leu2467Gln)
c.7205T>A (p.Leu2402Gln)
c.7373T>A (p.Leu2458Gln)
16g.89275161G>ACA497168631ANKRD11c.7501C>T (p.Leu2501=)
c.*7304C>T (n.*7304C>T)
c.775C>T (p.Leu259=)
c.182C>T
c.7399C>T (p.Leu2467=)
c.7204C>T (p.Leu2402=)
c.7372C>T (p.Leu2458=)
 dbSNP gnomAD v4
16g.89275161G>CCA397147920ANKRD11c.7501C>G (p.Leu2501Val)
c.*7304C>G (n.*7304C>G)
c.775C>G (p.Leu259Val)
c.182C>G
c.7399C>G (p.Leu2467Val)
c.7204C>G (p.Leu2402Val)
c.7372C>G (p.Leu2458Val)
 gnomAD v4
16g.89275161G=CA2241598799ANKRD11c.7501C= (p.Leu2501=)
c.*7304C= (n.*7304C=)
c.775C= (p.Leu259=)
c.182C=
c.7399C= (p.Leu2467=)
c.7204C= (p.Leu2402=)
c.7372C= (p.Leu2458=)
16g.89275161G>TCA397147921ANKRD11c.7501C>A (p.Leu2501Met)
c.*7304C>A (n.*7304C>A)
c.775C>A (p.Leu259Met)
c.182C>A
c.7399C>A (p.Leu2467Met)
c.7204C>A (p.Leu2402Met)
c.7372C>A (p.Leu2458Met)
16g.89275162G>ACA497168635ANKRD11c.7500C>T (p.Pro2500=)
c.*7303C>T (n.*7303C>T)
c.774C>T (p.Pro258=)
c.181C>T
c.7398C>T (p.Pro2466=)
c.7203C>T (p.Pro2401=)
c.7371C>T (p.Pro2457=)
 dbSNP gnomAD v4
16g.89275162G>CCA497168638ANKRD11c.7500C>G (p.Pro2500=)
c.*7303C>G (n.*7303C>G)
c.774C>G (p.Pro258=)
c.181C>G
c.7398C>G (p.Pro2466=)
c.7203C>G (p.Pro2401=)
c.7371C>G (p.Pro2457=)
16g.89275162G=CA2241598800ANKRD11c.7500C= (p.Pro2500=)
c.*7303C= (n.*7303C=)
c.774C= (p.Pro258=)
c.181C=
c.7398C= (p.Pro2466=)
c.7203C= (p.Pro2401=)
c.7371C= (p.Pro2457=)
16g.89275162G>TCA497168640ANKRD11c.7500C>A (p.Pro2500=)
c.*7303C>A (n.*7303C>A)
c.774C>A (p.Pro258=)
c.181C>A
c.7398C>A (p.Pro2466=)
c.7203C>A (p.Pro2401=)
c.7371C>A (p.Pro2457=)
16g.89275163G>ACA397147924ANKRD11c.7499C>T (p.Pro2500Leu)
c.*7302C>T (n.*7302C>T)
c.773C>T (p.Pro258Leu)
c.180C>T
c.7397C>T (p.Pro2466Leu)
c.7202C>T (p.Pro2401Leu)
c.7370C>T (p.Pro2457Leu)
 gnomAD v4
16g.89275163G>CCA397147922ANKRD11c.7499C>G (p.Pro2500Arg)
c.*7302C>G (n.*7302C>G)
c.773C>G (p.Pro258Arg)
c.180C>G
c.7397C>G (p.Pro2466Arg)
c.7202C>G (p.Pro2401Arg)
c.7370C>G (p.Pro2457Arg)
16g.89275163G>TCA397147923ANKRD11c.7499C>A (p.Pro2500His)
c.*7302C>A (n.*7302C>A)
c.773C>A (p.Pro258His)
c.180C>A
c.7397C>A (p.Pro2466His)
c.7202C>A (p.Pro2401His)
c.7370C>A (p.Pro2457His)
16g.89275164G>ACA8241123ANKRD11c.7498C>T (p.Pro2500Ser)
c.*7301C>T (n.*7301C>T)
c.772C>T (p.Pro258Ser)
c.179C>T
c.7396C>T (p.Pro2466Ser)
c.7201C>T (p.Pro2401Ser)
c.7369C>T (p.Pro2457Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89275164G>CCA397147925ANKRD11c.7498C>G (p.Pro2500Ala)
c.*7301C>G (n.*7301C>G)
c.772C>G (p.Pro258Ala)
c.179C>G
c.7396C>G (p.Pro2466Ala)
c.7201C>G (p.Pro2401Ala)
c.7369C>G (p.Pro2457Ala)
16g.89275164G=CA2241598801ANKRD11c.7498C= (p.Pro2500=)
c.*7301C= (n.*7301C=)
c.772C= (p.Pro258=)
c.179C=
c.7396C= (p.Pro2466=)
c.7201C= (p.Pro2401=)
c.7369C= (p.Pro2457=)
16g.89275164G>TCA397147926ANKRD11c.7498C>A (p.Pro2500Thr)
c.*7301C>A (n.*7301C>A)
c.772C>A (p.Pro258Thr)
c.179C>A
c.7396C>A (p.Pro2466Thr)
c.7201C>A (p.Pro2401Thr)
c.7369C>A (p.Pro2457Thr)
 gnomAD v4
16g.89275165C>ACA397147927ANKRD11c.7497G>T (p.Glu2499Asp)
c.*7300G>T (n.*7300G>T)
c.771G>T (p.Glu257Asp)
c.178G>T
c.7395G>T (p.Glu2465Asp)
c.7200G>T (p.Glu2400Asp)
c.7368G>T (p.Glu2456Asp)
 dbSNP
16g.89275165C=CA2241598802ANKRD11c.7497G= (p.Glu2499=)
c.*7300G= (n.*7300G=)
c.771G= (p.Glu257=)
c.178G=
c.7395G= (p.Glu2465=)
c.7200G= (p.Glu2400=)
c.7368G= (p.Glu2456=)
16g.89275165C>GCA397147928ANKRD11c.7497G>C (p.Glu2499Asp)
c.*7300G>C (n.*7300G>C)
c.771G>C (p.Glu257Asp)
c.178G>C
c.7395G>C (p.Glu2465Asp)
c.7200G>C (p.Glu2400Asp)
c.7368G>C (p.Glu2456Asp)
16g.89275165C>TCA497168652ANKRD11c.7497G>A (p.Glu2499=)
c.*7300G>A (n.*7300G>A)
c.771G>A (p.Glu257=)
c.178G>A
c.7395G>A (p.Glu2465=)
c.7200G>A (p.Glu2400=)
c.7368G>A (p.Glu2456=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89275166T>ACA397147929ANKRD11c.7496A>T (p.Glu2499Val)
c.*7299A>T (n.*7299A>T)
c.770A>T (p.Glu257Val)
c.177A>T
c.7394A>T (p.Glu2465Val)
c.7199A>T (p.Glu2400Val)
c.7367A>T (p.Glu2456Val)
16g.89275166T>CCA397147930ANKRD11c.7496A>G (p.Glu2499Gly)
c.*7299A>G (n.*7299A>G)
c.770A>G (p.Glu257Gly)
c.177A>G
c.7394A>G (p.Glu2465Gly)
c.7199A>G (p.Glu2400Gly)
c.7367A>G (p.Glu2456Gly)
16g.89275166T>GCA397147931ANKRD11c.7496A>C (p.Glu2499Ala)
c.*7299A>C (n.*7299A>C)
c.770A>C (p.Glu257Ala)
c.177A>C
c.7394A>C (p.Glu2465Ala)
c.7199A>C (p.Glu2400Ala)
c.7367A>C (p.Glu2456Ala)
16g.89275167C>ACA397147932ANKRD11c.7495G>T (p.Glu2499Ter)
c.*7298G>T (n.*7298G>T)
c.769G>T (p.Glu257Ter)
c.176G>T
c.7393G>T (p.Glu2465Ter)
c.7198G>T (p.Glu2400Ter)
c.7366G>T (p.Glu2456Ter)
16g.89275167C>GCA397147933ANKRD11c.7495G>C (p.Glu2499Gln)
c.*7298G>C (n.*7298G>C)
c.769G>C (p.Glu257Gln)
c.176G>C
c.7393G>C (p.Glu2465Gln)
c.7198G>C (p.Glu2400Gln)
c.7366G>C (p.Glu2456Gln)
16g.89275167C>TCA397147934ANKRD11c.7495G>A (p.Glu2499Lys)
c.*7298G>A (n.*7298G>A)
c.769G>A (p.Glu257Lys)
c.176G>A
c.7393G>A (p.Glu2465Lys)
c.7198G>A (p.Glu2400Lys)
c.7366G>A (p.Glu2456Lys)
16g.89275168C>ACA497168663ANKRD11c.7494G>T (p.Ala2498=)
c.*7297G>T (n.*7297G>T)
c.768G>T (p.Ala256=)
c.175G>T
c.7392G>T (p.Ala2464=)
c.7197G>T (p.Ala2399=)
c.7365G>T (p.Ala2455=)
16g.89275168C=CA2241598803ANKRD11c.7494G= (p.Ala2498=)
c.*7297G= (n.*7297G=)
c.768G= (p.Ala256=)
c.175G=
c.7392G= (p.Ala2464=)
c.7197G= (p.Ala2399=)
c.7365G= (p.Ala2455=)
16g.89275168C>GCA497168666ANKRD11c.7494G>C (p.Ala2498=)
c.*7297G>C (n.*7297G>C)
c.768G>C (p.Ala256=)
c.175G>C
c.7392G>C (p.Ala2464=)
c.7197G>C (p.Ala2399=)
c.7365G>C (p.Ala2455=)
16g.89275168C>TCA8241124ANKRD11c.7494G>A (p.Ala2498=)
c.*7297G>A (n.*7297G>A)
c.768G>A (p.Ala256=)
c.175G>A
c.7392G>A (p.Ala2464=)
c.7197G>A (p.Ala2399=)
c.7365G>A (p.Ala2455=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89275169G>ACA397147935ANKRD11c.7493C>T (p.Ala2498Val)
c.*7296C>T (n.*7296C>T)
c.767C>T (p.Ala256Val)
c.174C>T
c.7391C>T (p.Ala2464Val)
c.7196C>T (p.Ala2399Val)
c.7364C>T (p.Ala2455Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89275169G>CCA397147936ANKRD11c.7493C>G (p.Ala2498Gly)
c.*7296C>G (n.*7296C>G)
c.767C>G (p.Ala256Gly)
c.174C>G
c.7391C>G (p.Ala2464Gly)
c.7196C>G (p.Ala2399Gly)
c.7364C>G (p.Ala2455Gly)
16g.89275169G=CA2241598804ANKRD11c.7493C= (p.Ala2498=)
c.*7296C= (n.*7296C=)
c.767C= (p.Ala256=)
c.174C=
c.7391C= (p.Ala2464=)
c.7196C= (p.Ala2399=)
c.7364C= (p.Ala2455=)
16g.89275169G>TCA286505942ANKRD11c.7493C>A (p.Ala2498Glu)
c.*7296C>A (n.*7296C>A)
c.767C>A (p.Ala256Glu)
c.174C>A
c.7391C>A (p.Ala2464Glu)
c.7196C>A (p.Ala2399Glu)
c.7364C>A (p.Ala2455Glu)
 dbSNP
16g.89275170C>ACA397147937ANKRD11c.7492G>T (p.Ala2498Ser)
c.*7295G>T (n.*7295G>T)
c.766G>T (p.Ala256Ser)
c.173G>T
c.7390G>T (p.Ala2464Ser)
c.7195G>T (p.Ala2399Ser)
c.7363G>T (p.Ala2455Ser)
16g.89275170C>GCA397147939ANKRD11c.7492G>C (p.Ala2498Pro)
c.*7295G>C (n.*7295G>C)
c.766G>C (p.Ala256Pro)
c.173G>C
c.7390G>C (p.Ala2464Pro)
c.7195G>C (p.Ala2399Pro)
c.7363G>C (p.Ala2455Pro)
16g.89275170C>TCA397147938ANKRD11c.7492G>A (p.Ala2498Thr)
c.*7295G>A (n.*7295G>A)
c.766G>A (p.Ala256Thr)
c.173G>A
c.7390G>A (p.Ala2464Thr)
c.7195G>A (p.Ala2399Thr)
c.7363G>A (p.Ala2455Thr)
16g.89275171C>ACA497168681ANKRD11c.7491G>T (p.Leu2497=)
c.*7294G>T (n.*7294G>T)
c.765G>T (p.Leu255=)
c.172G>T
c.7389G>T (p.Leu2463=)
c.7194G>T (p.Leu2398=)
c.7362G>T (p.Leu2454=)
16g.89275171C>GCA497168677ANKRD11c.7491G>C (p.Leu2497=)
c.*7294G>C (n.*7294G>C)
c.765G>C (p.Leu255=)
c.172G>C
c.7389G>C (p.Leu2463=)
c.7194G>C (p.Leu2398=)
c.7362G>C (p.Leu2454=)
16g.89275171C>TCA497168679ANKRD11c.7491G>A (p.Leu2497=)
c.*7294G>A (n.*7294G>A)
c.765G>A (p.Leu255=)
c.172G>A
c.7389G>A (p.Leu2463=)
c.7194G>A (p.Leu2398=)
c.7362G>A (p.Leu2454=)
 ClinVar gnomAD v4
16g.89275172A>CCA397147940ANKRD11c.7490T>G (p.Leu2497Arg)
c.*7293T>G (n.*7293T>G)
c.764T>G (p.Leu255Arg)
c.171T>G
c.7388T>G (p.Leu2463Arg)
c.7193T>G (p.Leu2398Arg)
c.7361T>G (p.Leu2454Arg)
16g.89275172A>GCA397147942ANKRD11c.7490T>C (p.Leu2497Pro)
c.*7293T>C (n.*7293T>C)
c.764T>C (p.Leu255Pro)
c.171T>C
c.7388T>C (p.Leu2463Pro)
c.7193T>C (p.Leu2398Pro)
c.7361T>C (p.Leu2454Pro)
16g.89275172A>TCA397147941ANKRD11c.7490T>A (p.Leu2497Gln)
c.*7293T>A (n.*7293T>A)
c.764T>A (p.Leu255Gln)
c.171T>A
c.7388T>A (p.Leu2463Gln)
c.7193T>A (p.Leu2398Gln)
c.7361T>A (p.Leu2454Gln)
16g.89275180_89275183delCA2634942582ANKRD11c.7487_7490del (p.Ser2496TrpfsTer5)
c.*7290_*7293del (n.*7290_*7293del)
c.761_764del (p.Ser254TrpfsTer5)
c.168_171del
c.7385_7388del (p.Ser2462TrpfsTer5)
c.7190_7193del (p.Ser2397TrpfsTer5)
c.7358_7361del (p.Ser2453TrpfsTer5)
 gnomAD v4
16g.89275173G>ACA8241125ANKRD11c.7489C>T (p.Leu2497=)
c.*7292C>T (n.*7292C>T)
c.763C>T (p.Leu255=)
c.170C>T
c.7387C>T (p.Leu2463=)
c.7192C>T (p.Leu2398=)
c.7360C>T (p.Leu2454=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89275173G>CCA397147944ANKRD11c.7489C>G (p.Leu2497Val)
c.*7292C>G (n.*7292C>G)
c.763C>G (p.Leu255Val)
c.170C>G
c.7387C>G (p.Leu2463Val)
c.7192C>G (p.Leu2398Val)
c.7360C>G (p.Leu2454Val)
16g.89275173G=CA2241598805ANKRD11c.7489C= (p.Leu2497=)
c.*7292C= (n.*7292C=)
c.763C= (p.Leu255=)
c.170C=
c.7387C= (p.Leu2463=)
c.7192C= (p.Leu2398=)
c.7360C= (p.Leu2454=)
16g.89275173G>TCA397147943ANKRD11c.7489C>A (p.Leu2497Met)
c.*7292C>A (n.*7292C>A)
c.763C>A (p.Leu255Met)
c.170C>A
c.7387C>A (p.Leu2463Met)
c.7192C>A (p.Leu2398Met)
c.7360C>A (p.Leu2454Met)
 gnomAD v4
16g.89275174G>ACA286505945ANKRD11c.7488C>T (p.Ser2496=)
c.*7291C>T (n.*7291C>T)
c.762C>T (p.Ser254=)
c.169C>T
c.7386C>T (p.Ser2462=)
c.7191C>T (p.Ser2397=)
c.7359C>T (p.Ser2453=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89275174G>CCA286505947ANKRD11c.7488C>G (p.Ser2496=)
c.*7291C>G (n.*7291C>G)
c.762C>G (p.Ser254=)
c.169C>G
c.7386C>G (p.Ser2462=)
c.7191C>G (p.Ser2397=)
c.7359C>G (p.Ser2453=)
 dbSNP gnomAD v3 gnomAD v4
16g.89275174G=CA2241598806ANKRD11c.7488C= (p.Ser2496=)
c.*7291C= (n.*7291C=)
c.762C= (p.Ser254=)
c.169C=
c.7386C= (p.Ser2462=)
c.7191C= (p.Ser2397=)
c.7359C= (p.Ser2453=)
16g.89275174G>TCA497168694ANKRD11c.7488C>A (p.Ser2496=)
c.*7291C>A (n.*7291C>A)
c.762C>A (p.Ser254=)
c.169C>A
c.7386C>A (p.Ser2462=)
c.7191C>A (p.Ser2397=)
c.7359C>A (p.Ser2453=)
 dbSNP gnomAD v4
16g.89275175G>ACA397147947ANKRD11c.7487C>T (p.Ser2496Phe)
c.*7290C>T (n.*7290C>T)
c.761C>T (p.Ser254Phe)
c.168C>T
c.7385C>T (p.Ser2462Phe)
c.7190C>T (p.Ser2397Phe)
c.7358C>T (p.Ser2453Phe)
 ClinVar dbSNP
16g.89275175G>CCA397147945ANKRD11c.7487C>G (p.Ser2496Cys)
c.*7290C>G (n.*7290C>G)
c.761C>G (p.Ser254Cys)
c.168C>G
c.7385C>G (p.Ser2462Cys)
c.7190C>G (p.Ser2397Cys)
c.7358C>G (p.Ser2453Cys)
16g.89275175G=CA2241598807ANKRD11c.7487C= (p.Ser2496=)
c.*7290C= (n.*7290C=)
c.761C= (p.Ser254=)
c.168C=
c.7385C= (p.Ser2462=)
c.7190C= (p.Ser2397=)
c.7358C= (p.Ser2453=)
16g.89275175G>TCA397147946ANKRD11c.7487C>A (p.Ser2496Tyr)
c.*7290C>A (n.*7290C>A)
c.761C>A (p.Ser254Tyr)
c.168C>A
c.7385C>A (p.Ser2462Tyr)
c.7190C>A (p.Ser2397Tyr)
c.7358C>A (p.Ser2453Tyr)
16g.89275176A>CCA397147948ANKRD11c.7486T>G (p.Ser2496Ala)
c.*7289T>G (n.*7289T>G)
c.760T>G (p.Ser254Ala)
c.167T>G
c.7384T>G (p.Ser2462Ala)
c.7189T>G (p.Ser2397Ala)
c.7357T>G (p.Ser2453Ala)
16g.89275176A>GCA397147949ANKRD11c.7486T>C (p.Ser2496Pro)
c.*7289T>C (n.*7289T>C)
c.760T>C (p.Ser254Pro)
c.167T>C
c.7384T>C (p.Ser2462Pro)
c.7189T>C (p.Ser2397Pro)
c.7357T>C (p.Ser2453Pro)
16g.89275176A>TCA397147950ANKRD11c.7486T>A (p.Ser2496Thr)
c.*7289T>A (n.*7289T>A)
c.760T>A (p.Ser254Thr)
c.167T>A
c.7384T>A (p.Ser2462Thr)
c.7189T>A (p.Ser2397Thr)
c.7357T>A (p.Ser2453Thr)
16g.89275177G>ACA497168710ANKRD11c.7485C>T (p.Pro2495=)
c.*7288C>T (n.*7288C>T)
c.759C>T (p.Pro253=)
c.166C>T
c.7383C>T (p.Pro2461=)
c.7188C>T (p.Pro2396=)
c.7356C>T (p.Pro2452=)
16g.89275177G>CCA8241126ANKRD11c.7485C>G (p.Pro2495=)
c.*7288C>G (n.*7288C>G)
c.759C>G (p.Pro253=)
c.166C>G
c.7383C>G (p.Pro2461=)
c.7188C>G (p.Pro2396=)
c.7356C>G (p.Pro2452=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89275177G=CA2241598808ANKRD11c.7485C= (p.Pro2495=)
c.*7288C= (n.*7288C=)
c.759C= (p.Pro253=)
c.166C=
c.7383C= (p.Pro2461=)
c.7188C= (p.Pro2396=)
c.7356C= (p.Pro2452=)
16g.89275177G>TCA497168708ANKRD11c.7485C>A (p.Pro2495=)
c.*7288C>A (n.*7288C>A)
c.759C>A (p.Pro253=)
c.166C>A
c.7383C>A (p.Pro2461=)
c.7188C>A (p.Pro2396=)
c.7356C>A (p.Pro2452=)
16g.89275178G>ACA397147951ANKRD11c.7484C>T (p.Pro2495Leu)
c.*7287C>T (n.*7287C>T)
c.758C>T (p.Pro253Leu)
c.165C>T
c.7382C>T (p.Pro2461Leu)
c.7187C>T (p.Pro2396Leu)
c.7355C>T (p.Pro2452Leu)
 COSMIC
16g.89275178G>CCA397147952ANKRD11c.7484C>G (p.Pro2495Arg)
c.*7287C>G (n.*7287C>G)
c.758C>G (p.Pro253Arg)
c.165C>G
c.7382C>G (p.Pro2461Arg)
c.7187C>G (p.Pro2396Arg)
c.7355C>G (p.Pro2452Arg)
16g.89275178G>TCA397147953ANKRD11c.7484C>A (p.Pro2495His)
c.*7287C>A (n.*7287C>A)
c.758C>A (p.Pro253His)
c.165C>A
c.7382C>A (p.Pro2461His)
c.7187C>A (p.Pro2396His)
c.7355C>A (p.Pro2452His)
 gnomAD v4
16g.89275179G>ACA397147954ANKRD11c.7483C>T (p.Pro2495Ser)
c.*7286C>T (n.*7286C>T)
c.757C>T (p.Pro253Ser)
c.164C>T
c.7381C>T (p.Pro2461Ser)
c.7186C>T (p.Pro2396Ser)
c.7354C>T (p.Pro2452Ser)
16g.89275179G>CCA397147955ANKRD11c.7483C>G (p.Pro2495Ala)
c.*7286C>G (n.*7286C>G)
c.757C>G (p.Pro253Ala)
c.164C>G
c.7381C>G (p.Pro2461Ala)
c.7186C>G (p.Pro2396Ala)
c.7354C>G (p.Pro2452Ala)
16g.89275179G>TCA397147956ANKRD11c.7483C>A (p.Pro2495Thr)
c.*7286C>A (n.*7286C>A)
c.757C>A (p.Pro253Thr)
c.164C>A
c.7381C>A (p.Pro2461Thr)
c.7186C>A (p.Pro2396Thr)
c.7354C>A (p.Pro2452Thr)
16g.89275180A>CCA497168722ANKRD11c.7482T>G (p.Pro2494=)
c.*7285T>G (n.*7285T>G)
c.756T>G (p.Pro252=)
c.163T>G
c.7380T>G (p.Pro2460=)
c.7185T>G (p.Pro2395=)
c.7353T>G (p.Pro2451=)
16g.89275180A>GCA497168724ANKRD11c.7482T>C (p.Pro2494=)
c.*7285T>C (n.*7285T>C)
c.756T>C (p.Pro252=)
c.163T>C
c.7380T>C (p.Pro2460=)
c.7185T>C (p.Pro2395=)
c.7353T>C (p.Pro2451=)
16g.89275180A>TCA497168727ANKRD11c.7482T>A (p.Pro2494=)
c.*7285T>A (n.*7285T>A)
c.756T>A (p.Pro252=)
c.163T>A
c.7380T>A (p.Pro2460=)
c.7185T>A (p.Pro2395=)
c.7353T>A (p.Pro2451=)
16g.89275181G>ACA397147957ANKRD11c.7481C>T (p.Pro2494Leu)
c.*7284C>T (n.*7284C>T)
c.755C>T (p.Pro252Leu)
c.162C>T
c.7379C>T (p.Pro2460Leu)
c.7184C>T (p.Pro2395Leu)
c.7352C>T (p.Pro2451Leu)
16g.89275181G>CCA397147959ANKRD11c.7481C>G (p.Pro2494Arg)
c.*7284C>G (n.*7284C>G)
c.755C>G (p.Pro252Arg)
c.162C>G
c.7379C>G (p.Pro2460Arg)
c.7184C>G (p.Pro2395Arg)
c.7352C>G (p.Pro2451Arg)
 ClinVar dbSNP
16g.89275181G>TCA397147958ANKRD11c.7481C>A (p.Pro2494His)
c.*7284C>A (n.*7284C>A)
c.755C>A (p.Pro252His)
c.162C>A
c.7379C>A (p.Pro2460His)
c.7184C>A (p.Pro2395His)
c.7352C>A (p.Pro2451His)
16g.89275185dupCA915940401ANKRD11c.7481dup (p.Pro2495SerfsTer?)
c.*7284dup (n.*7284dup)
c.755dup (p.Pro253SerfsTer?)
c.162dup
c.7379dup (p.Pro2461SerfsTer?)
c.7184dup (p.Pro2396SerfsTer?)
c.7352dup (p.Pro2452SerfsTer?)
16g.89275185delCA2634942583ANKRD11c.7481del (p.Pro2494LeufsTer8)
c.*7284del (n.*7284del)
c.755del (p.Pro252LeufsTer8)
c.162del
c.7379del (p.Pro2460LeufsTer8)
c.7184del (p.Pro2395LeufsTer8)
c.7352del (p.Pro2451LeufsTer8)
 gnomAD v4
16g.89275182G>ACA397147960ANKRD11c.7480C>T (p.Pro2494Ser)
c.*7283C>T (n.*7283C>T)
c.754C>T (p.Pro252Ser)
c.161C>T
c.7378C>T (p.Pro2460Ser)
c.7183C>T (p.Pro2395Ser)
c.7351C>T (p.Pro2451Ser)
16g.89275182G>CCA397147961ANKRD11c.7480C>G (p.Pro2494Ala)
c.*7283C>G (n.*7283C>G)
c.754C>G (p.Pro252Ala)
c.161C>G
c.7378C>G (p.Pro2460Ala)
c.7183C>G (p.Pro2395Ala)
c.7351C>G (p.Pro2451Ala)
16g.89275182G=CA2241598809ANKRD11c.7480C= (p.Pro2494=)
c.*7283C= (n.*7283C=)
c.754C= (p.Pro252=)
c.161C=
c.7378C= (p.Pro2460=)
c.7183C= (p.Pro2395=)
c.7351C= (p.Pro2451=)
16g.89275182G>TCA16620302ANKRD11c.7480C>A (p.Pro2494Thr)
c.*7283C>A (n.*7283C>A)
c.754C>A (p.Pro252Thr)
c.161C>A
c.7378C>A (p.Pro2460Thr)
c.7183C>A (p.Pro2395Thr)
c.7351C>A (p.Pro2451Thr)
 ClinVar dbSNP gnomAD v4

Number of alleles fetched