Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.108251897_108260359delCA916080444ATMc.1668_2466+1284del
c.1503_2301+1284del
c.624_1422+1284del
c.360_1158+1284del
n.2401_3199+1284del
ClinVar
11g.108256199_108256218delinsTGTGGTTTACTTTAAGATTACA1998774825ATMc.2125-16_2128delinsTGTGGTTTACTTTAAGATTA
c.1960-16_1963delinsTGTGGTTTACTTTAAGATTA
c.1081-16_1084delinsTGTGGTTTACTTTAAGATTA
c.817-16_820delinsTGTGGTTTACTTTAAGATTA
n.2858-16_2861delinsTGTGGTTTACTTTAAGATTA
11g.108256200_108256218delCA16613363ATMc.2125-15_2128del
c.1960-15_1963del
c.1081-15_1084del
c.817-15_820del
n.2858-15_2861del
ClinVar dbSNP
11g.108256214_108256215delinsGACA1998774858ATMc.2125-1_2125delinsGA
c.1960-1_1960delinsGA
c.1081-1_1081delinsGA
c.817-1_817delinsGA
n.2858-1_2858delinsGA
11g.108256215delCA16041388ATMc.2125del (p.Ile709LeufsTer26)
c.1960del (p.Ile654LeufsTer26)
c.1081del (p.Ile361LeufsTer26)
c.817del (p.Ile273LeufsTer26)
n.2858del
ClinVar dbSNP
11g.108256215A=CA1998774867ATMc.2125A= (p.Ile709=)
c.1960A= (p.Ile654=)
c.1081A= (p.Ile361=)
c.817A= (p.Ile273=)
n.2858A=
11g.108256215A>CCA382538633ATMc.2125A>C (p.Ile709Leu)
c.1960A>C (p.Ile654Leu)
c.1081A>C (p.Ile361Leu)
c.817A>C (p.Ile273Leu)
n.2858A>C
ClinVar
11g.108256215A>GCA348661ATMc.2125A>G (p.Ile709Val)
c.1960A>G (p.Ile654Val)
c.1081A>G (p.Ile361Val)
c.817A>G (p.Ile273Val)
n.2858A>G
ClinVar dbSNP
11g.108256215A>TCA10584329ATMc.2125A>T (p.Ile709Phe)
c.1960A>T (p.Ile654Phe)
c.1081A>T (p.Ile361Phe)
c.817A>T (p.Ile273Phe)
n.2858A>T
ClinVar dbSNP
11g.108256216T>ACA382538635ATMc.2126T>A (p.Ile709Asn)
c.1961T>A (p.Ile654Asn)
c.1082T>A (p.Ile361Asn)
c.818T>A (p.Ile273Asn)
n.2859T>A
11g.108256216T>CCA382538636ATMc.2126T>C (p.Ile709Thr)
c.1961T>C (p.Ile654Thr)
c.1082T>C (p.Ile361Thr)
c.818T>C (p.Ile273Thr)
n.2859T>C
11g.108256216T>GCA382538638ATMc.2126T>G (p.Ile709Ser)
c.1961T>G (p.Ile654Ser)
c.1082T>G (p.Ile361Ser)
c.818T>G (p.Ile273Ser)
n.2859T>G
11g.108256217T>ACA476672478ATMc.2127T>A (p.Ile709=)
c.1962T>A (p.Ile654=)
c.1083T>A (p.Ile361=)
c.819T>A (p.Ile273=)
n.2860T>A
11g.108256217T>CCA289544ATMc.2127T>C (p.Ile709=)
c.1962T>C (p.Ile654=)
c.1083T>C (p.Ile361=)
c.819T>C (p.Ile273=)
n.2860T>C
ClinVar dbSNP ExAC gnomAD
11g.108256217T>GCA350788ATMc.2127T>G (p.Ile709Met)
c.1962T>G (p.Ile654Met)
c.1083T>G (p.Ile361Met)
c.819T>G (p.Ile273Met)
n.2860T>G
ClinVar dbSNP
11g.108256217T=CA1998774869ATMc.2127T= (p.Ile709=)
c.1962T= (p.Ile654=)
c.1083T= (p.Ile361=)
c.819T= (p.Ile273=)
n.2860T=
11g.108256218A=CA1998774872ATMc.2128A= (p.Thr710=)
c.1963A= (p.Thr655=)
c.1084A= (p.Thr362=)
c.820A= (p.Thr274=)
n.2861A=
11g.108256218A>CCA382538641ATMc.2128A>C (p.Thr710Pro)
c.1963A>C (p.Thr655Pro)
c.1084A>C (p.Thr362Pro)
c.820A>C (p.Thr274Pro)
n.2861A>C
11g.108256218A>GCA6264953ATMc.2128A>G (p.Thr710Ala)
c.1963A>G (p.Thr655Ala)
c.1084A>G (p.Thr362Ala)
c.820A>G (p.Thr274Ala)
n.2861A>G
ClinVar dbSNP ExAC gnomAD
11g.108256218A>TCA382538642ATMc.2128A>T (p.Thr710Ser)
c.1963A>T (p.Thr655Ser)
c.1084A>T (p.Thr362Ser)
c.820A>T (p.Thr274Ser)
n.2861A>T
11g.108256218_108256219delinsACCA1998774873ATMc.2128_2129delinsAC (p.Thr710=)
c.1963_1964delinsAC (p.Thr655=)
c.1084_1085delinsAC (p.Thr362=)
c.820_821delinsAC (p.Thr274=)
n.2861_2862delinsAC
11g.108256219delCA197891ATMc.2129del (p.Thr710LysfsTer25)
c.1964del (p.Thr655LysfsTer25)
c.1085del (p.Thr362LysfsTer25)
c.821del (p.Thr274LysfsTer25)
n.2862del
ClinVar dbSNP
11g.108256219C>ACA382538647ATMc.2129C>A (p.Thr710Lys)
c.1964C>A (p.Thr655Lys)
c.1085C>A (p.Thr362Lys)
c.821C>A (p.Thr274Lys)
n.2862C>A
ClinVar
11g.108256219C=CA1998774875ATMc.2129C= (p.Thr710=)
c.1964C= (p.Thr655=)
c.1085C= (p.Thr362=)
c.821C= (p.Thr274=)
n.2862C=
11g.108256219C>GCA382538648ATMc.2129C>G (p.Thr710Arg)
c.1964C>G (p.Thr655Arg)
c.1085C>G (p.Thr362Arg)
c.821C>G (p.Thr274Arg)
n.2862C>G
11g.108256219C>TCA382538645ATMc.2129C>T (p.Thr710Ile)
c.1964C>T (p.Thr655Ile)
c.1085C>T (p.Thr362Ile)
c.821C>T (p.Thr274Ile)
n.2862C>T
gnomAD
11g.108256219dupCA942015733ATMc.2129dup (p.Asn711LysfsTer27)
c.1964dup (p.Asn656LysfsTer27)
c.1085dup (p.Asn363LysfsTer27)
c.821dup (p.Asn275LysfsTer27)
n.2862dup
dbSNP
11g.108256220A=CA1998774878ATMc.2130A= (p.Thr710=)
c.1965A= (p.Thr655=)
c.1086A= (p.Thr362=)
c.822A= (p.Thr274=)
n.2863A=
11g.108256220A>CCA476672479ATMc.2130A>C (p.Thr710=)
c.1965A>C (p.Thr655=)
c.1086A>C (p.Thr362=)
c.822A>C (p.Thr274=)
n.2863A>C
11g.108256220A>GCA476672480ATMc.2130A>G (p.Thr710=)
c.1965A>G (p.Thr655=)
c.1086A>G (p.Thr362=)
c.822A>G (p.Thr274=)
n.2863A>G
ClinVar
11g.108256220A>TCA476672481ATMc.2130A>T (p.Thr710=)
c.1965A>T (p.Thr655=)
c.1086A>T (p.Thr362=)
c.822A>T (p.Thr274=)
n.2863A>T
11g.108256221_108256222dupCA601696180ATMc.2131_2132dup (p.Asn711LysfsTer25)
c.1966_1967dup (p.Asn656LysfsTer25)
c.1087_1088dup (p.Asn363LysfsTer25)
c.823_824dup (p.Asn275LysfsTer25)
n.2864_2865dup
dbSNP gnomAD
11g.108256221A=CA1998774880ATMc.2131A= (p.Asn711=)
c.1966A= (p.Asn656=)
c.1087A= (p.Asn363=)
c.823A= (p.Asn275=)
n.2864A=
11g.108256221A>CCA382538653ATMc.2131A>C (p.Asn711His)
c.1966A>C (p.Asn656His)
c.1087A>C (p.Asn363His)
c.823A>C (p.Asn275His)
n.2864A>C
11g.108256221A>GCA165093ATMc.2131A>G (p.Asn711Asp)
c.1966A>G (p.Asn656Asp)
c.1087A>G (p.Asn363Asp)
c.823A>G (p.Asn275Asp)
n.2864A>G
ClinVar dbSNP
11g.108256221A>TCA382538650ATMc.2131A>T (p.Asn711Tyr)
c.1966A>T (p.Asn656Tyr)
c.1087A>T (p.Asn363Tyr)
c.823A>T (p.Asn275Tyr)
n.2864A>T
11g.108256222A>CCA382538655ATMc.2132A>C (p.Asn711Thr)
c.1967A>C (p.Asn656Thr)
c.1088A>C (p.Asn363Thr)
c.824A>C (p.Asn275Thr)
n.2865A>C
11g.108256222A>GCA382538656ATMc.2132A>G (p.Asn711Ser)
c.1967A>G (p.Asn656Ser)
c.1088A>G (p.Asn363Ser)
c.824A>G (p.Asn275Ser)
n.2865A>G
11g.108256222A>TCA382538660ATMc.2132A>T (p.Asn711Ile)
c.1967A>T (p.Asn656Ile)
c.1088A>T (p.Asn363Ile)
c.824A>T (p.Asn275Ile)
n.2865A>T
11g.108256222_108256223delinsATCA1998774882ATMc.2132_2133delinsAT (p.Asn711=)
c.1967_1968delinsAT (p.Asn656=)
c.1088_1089delinsAT (p.Asn363=)
c.824_825delinsAT (p.Asn275=)
n.2865_2866delinsAT
11g.108256223T>ACA382538662ATMc.2133T>A (p.Asn711Lys)
c.1968T>A (p.Asn656Lys)
c.1089T>A (p.Asn363Lys)
c.825T>A (p.Asn275Lys)
n.2866T>A
11g.108256223T>CCA476672482ATMc.2133T>C (p.Asn711=)
c.1968T>C (p.Asn656=)
c.1089T>C (p.Asn363=)
c.825T>C (p.Asn275=)
n.2866T>C
11g.108256223T>GCA382538665ATMc.2133T>G (p.Asn711Lys)
c.1968T>G (p.Asn656Lys)
c.1089T>G (p.Asn363Lys)
c.825T>G (p.Asn275Lys)
n.2866T>G
11g.108256224delCA915948363ATMc.2134del (p.Ser712GlnfsTer23)
c.1969del (p.Ser657GlnfsTer23)
c.1090del (p.Ser364GlnfsTer23)
c.826del (p.Ser276GlnfsTer23)
n.2867del
ClinVar dbSNP
11g.108256224T>ACA382538668ATMc.2134T>A (p.Ser712Thr)
c.1969T>A (p.Ser657Thr)
c.1090T>A (p.Ser364Thr)
c.826T>A (p.Ser276Thr)
n.2867T>A
ClinVar
11g.108256224T>CCA382538670ATMc.2134T>C (p.Ser712Pro)
c.1969T>C (p.Ser657Pro)
c.1090T>C (p.Ser364Pro)
c.826T>C (p.Ser276Pro)
n.2867T>C
11g.108256224T>GCA382538672ATMc.2134T>G (p.Ser712Ala)
c.1969T>G (p.Ser657Ala)
c.1090T>G (p.Ser364Ala)
c.826T>G (p.Ser276Ala)
n.2867T>G
ClinVar
11g.108256224T=CA1998774885ATMc.2134T= (p.Ser712=)
c.1969T= (p.Ser657=)
c.1090T= (p.Ser364=)
c.826T= (p.Ser276=)
n.2867T=
11g.108256225C>ACA382538674ATMc.2135C>A (p.Ser712Ter)
c.1970C>A (p.Ser657Ter)
c.1091C>A (p.Ser364Ter)
c.827C>A (p.Ser276Ter)
n.2868C>A
11g.108256225C=CA1998774887ATMc.2135C= (p.Ser712=)
c.1970C= (p.Ser657=)
c.1091C= (p.Ser364=)
c.827C= (p.Ser276=)
n.2868C=

Number of alleles fetched