Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.108284224_108284231delCA658656246ATMc.3747-3_3751del
c.3582-3_3586del
c.2703-3_2707del
c.2439-3_2443del
n.4480-3_4484del
ClinVar dbSNP
11g.108284225A>CCA382524165ATMc.3747-2A>C (p.=)
c.3582-2A>C (p.=)
c.2703-2A>C (p.=)
c.2439-2A>C (p.=)
n.4480-2A>C
11g.108284225A>GCA16041404ATMc.3747-2A>G (p.=)
c.3582-2A>G (p.=)
c.2703-2A>G (p.=)
c.2439-2A>G (p.=)
n.4480-2A>G
ClinVar dbSNP
11g.108284225A>TCA382524166ATMc.3747-2A>T (p.=)
c.3582-2A>T (p.=)
c.2703-2A>T (p.=)
c.2439-2A>T (p.=)
n.4480-2A>T
11g.108284226G>ACA16044129ATMc.3747-1G>A (p.=)
c.3582-1G>A (p.=)
c.2703-1G>A (p.=)
c.2439-1G>A (p.=)
n.4480-1G>A
ClinVar dbSNP
11g.108284226G>CCA298228ATMc.3747-1G>C (p.=)
c.3582-1G>C (p.=)
c.2703-1G>C (p.=)
c.2439-1G>C (p.=)
n.4480-1G>C
ClinVar dbSNP
11g.108284226G>TCA382524167ATMc.3747-1G>T (p.=)
c.3582-1G>T (p.=)
c.2703-1G>T (p.=)
c.2439-1G>T (p.=)
n.4480-1G>T
11g.108284227A>CCA382524174ATMc.3747A>C (p.Arg1249Ser)
c.3582A>C (p.Arg1194Ser)
c.2703A>C (p.Arg901Ser)
c.2439A>C (p.Arg813Ser)
n.4480A>C
11g.108284227A>GCA476744936ATMc.3747A>G (p.Arg1249=)
c.3582A>G (p.Arg1194=)
c.2703A>G (p.Arg901=)
c.2439A>G (p.Arg813=)
n.4480A>G
gnomAD
11g.108284227A>TCA382524175ATMc.3747A>T (p.Arg1249Ser)
c.3582A>T (p.Arg1194Ser)
c.2703A>T (p.Arg901Ser)
c.2439A>T (p.Arg813Ser)
n.4480A>T
11g.108284228T>ACA382524176ATMc.3748T>A (p.Ser1250Thr)
c.3583T>A (p.Ser1195Thr)
c.2704T>A (p.Ser902Thr)
c.2440T>A (p.Ser814Thr)
n.4481T>A
ClinVar
11g.108284228T>CCA382524179ATMc.3748T>C (p.Ser1250Pro)
c.3583T>C (p.Ser1195Pro)
c.2704T>C (p.Ser902Pro)
c.2440T>C (p.Ser814Pro)
n.4481T>C
ClinVar
11g.108284228T>GCA382524185ATMc.3748T>G (p.Ser1250Ala)
c.3583T>G (p.Ser1195Ala)
c.2704T>G (p.Ser902Ala)
c.2440T>G (p.Ser814Ala)
n.4481T>G
11g.108284229C>ACA382524188ATMc.3749C>A (p.Ser1250Tyr)
c.3584C>A (p.Ser1195Tyr)
c.2705C>A (p.Ser902Tyr)
c.2441C>A (p.Ser814Tyr)
n.4482C>A
ClinVar COSMIC COSMIC
11g.108284229C>GCA382524191ATMc.3749C>G (p.Ser1250Cys)
c.3584C>G (p.Ser1195Cys)
c.2705C>G (p.Ser902Cys)
c.2441C>G (p.Ser814Cys)
n.4482C>G
11g.108284229C>TCA382524197ATMc.3749C>T (p.Ser1250Phe)
c.3584C>T (p.Ser1195Phe)
c.2705C>T (p.Ser902Phe)
c.2441C>T (p.Ser814Phe)
n.4482C>T
11g.108284230T>ACA476744941ATMc.3750T>A (p.Ser1250=)
c.3585T>A (p.Ser1195=)
c.2706T>A (p.Ser902=)
c.2442T>A (p.Ser814=)
n.4483T>A
11g.108284230T>CCA476744942ATMc.3750T>C (p.Ser1250=)
c.3585T>C (p.Ser1195=)
c.2706T>C (p.Ser902=)
c.2442T>C (p.Ser814=)
n.4483T>C
11g.108284230T>GCA476744943ATMc.3750T>G (p.Ser1250=)
c.3585T>G (p.Ser1195=)
c.2706T>G (p.Ser902=)
c.2442T>G (p.Ser814=)
n.4483T>G
11g.108284231T>ACA382524201ATMc.3751T>A (p.Cys1251Ser)
c.3586T>A (p.Cys1196Ser)
c.2707T>A (p.Cys903Ser)
c.2443T>A (p.Cys815Ser)
n.4484T>A
11g.108284231T>CCA6265348ATMc.3751T>C (p.Cys1251Arg)
c.3586T>C (p.Cys1196Arg)
c.2707T>C (p.Cys903Arg)
c.2443T>C (p.Cys815Arg)
n.4484T>C
ClinVar dbSNP ExAC gnomAD
11g.108284231T>GCA382524202ATMc.3751T>G (p.Cys1251Gly)
c.3586T>G (p.Cys1196Gly)
c.2707T>G (p.Cys903Gly)
c.2443T>G (p.Cys815Gly)
n.4484T>G
11g.108284232G>ACA382524203ATMc.3752G>A (p.Cys1251Tyr)
c.3587G>A (p.Cys1196Tyr)
c.2708G>A (p.Cys903Tyr)
c.2444G>A (p.Cys815Tyr)
n.4485G>A
ClinVar
11g.108284232G>CCA382524208ATMc.3752G>C (p.Cys1251Ser)
c.3587G>C (p.Cys1196Ser)
c.2708G>C (p.Cys903Ser)
c.2444G>C (p.Cys815Ser)
n.4485G>C
gnomAD
11g.108284232G>TCA382524209ATMc.3752G>T (p.Cys1251Phe)
c.3587G>T (p.Cys1196Phe)
c.2708G>T (p.Cys903Phe)
c.2444G>T (p.Cys815Phe)
n.4485G>T
gnomAD
11g.108284233T>ACA382524210ATMc.3753T>A (p.Cys1251Ter)
c.3588T>A (p.Cys1196Ter)
c.2709T>A (p.Cys903Ter)
c.2445T>A (p.Cys815Ter)
n.4486T>A
11g.108284233T>CCA476744945ATMc.3753T>C (p.Cys1251=)
c.3588T>C (p.Cys1196=)
c.2709T>C (p.Cys903=)
c.2445T>C (p.Cys815=)
n.4486T>C
11g.108284233T>GCA382524211ATMc.3753T>G (p.Cys1251Trp)
c.3588T>G (p.Cys1196Trp)
c.2709T>G (p.Cys903Trp)
c.2445T>G (p.Cys815Trp)
n.4486T>G
11g.108284234T>ACA382524214ATMc.3754T>A (p.Tyr1252Asn)
c.3589T>A (p.Tyr1197Asn)
c.2710T>A (p.Tyr904Asn)
c.2446T>A (p.Tyr816Asn)
n.4487T>A
11g.108284234T>CCA382524216ATMc.3754T>C (p.Tyr1252His)
c.3589T>C (p.Tyr1197His)
c.2710T>C (p.Tyr904His)
c.2446T>C (p.Tyr816His)
n.4487T>C
11g.108284234T>GCA382524221ATMc.3754T>G (p.Tyr1252Asp)
c.3589T>G (p.Tyr1197Asp)
c.2710T>G (p.Tyr904Asp)
c.2446T>G (p.Tyr816Asp)
n.4487T>G
11g.108284234_108284236delinsCACA190854ATMc.3754_3756delinsCA (p.Tyr1252GlnfsTer4)
c.3589_3591delinsCA (p.Tyr1197GlnfsTer4)
c.2710_2712delinsCA (p.Tyr904GlnfsTer4)
c.2446_2448delinsCA (p.Tyr816GlnfsTer4)
n.4487_4489delinsCA
ClinVar dbSNP
11g.108284236_108284237dupCA658656248ATMc.3756_3757dup (p.Lys1253IlefsTer4)
c.3591_3592dup (p.Lys1198IlefsTer4)
c.2712_2713dup (p.Lys905IlefsTer4)
c.2448_2449dup (p.Lys817IlefsTer4)
n.4489_4490dup
ClinVar dbSNP
11g.108284235A>CCA382524244ATMc.3755A>C (p.Tyr1252Ser)
c.3590A>C (p.Tyr1197Ser)
c.2711A>C (p.Tyr904Ser)
c.2447A>C (p.Tyr816Ser)
n.4488A>C
11g.108284235A>GCA382524253ATMc.3755A>G (p.Tyr1252Cys)
c.3590A>G (p.Tyr1197Cys)
c.2711A>G (p.Tyr904Cys)
c.2447A>G (p.Tyr816Cys)
n.4488A>G
11g.108284235A>TCA382524261ATMc.3755A>T (p.Tyr1252Phe)
c.3590A>T (p.Tyr1197Phe)
c.2711A>T (p.Tyr904Phe)
c.2447A>T (p.Tyr816Phe)
n.4488A>T
11g.108284235dupCA915944402ATMc.3755dup (p.Tyr1252Ter)
c.3590dup (p.Tyr1197Ter)
c.2711dup (p.Tyr904Ter)
c.2447dup (p.Tyr816Ter)
n.4488dup
ClinVar dbSNP
11g.108284236T>ACA10588496ATMc.3756T>A (p.Tyr1252Ter)
c.3591T>A (p.Tyr1197Ter)
c.2712T>A (p.Tyr904Ter)
c.2448T>A (p.Tyr816Ter)
n.4489T>A
ClinVar dbSNP
11g.108284236T>CCA476744947ATMc.3756T>C (p.Tyr1252=)
c.3591T>C (p.Tyr1197=)
c.2712T>C (p.Tyr904=)
c.2448T>C (p.Tyr816=)
n.4489T>C
ClinVar gnomAD
11g.108284236T>GCA382524269ATMc.3756T>G (p.Tyr1252Ter)
c.3591T>G (p.Tyr1197Ter)
c.2712T>G (p.Tyr904Ter)
c.2448T>G (p.Tyr816Ter)
n.4489T>G
11g.108284237A>CCA382524272ATMc.3757A>C (p.Lys1253Gln)
c.3592A>C (p.Lys1198Gln)
c.2713A>C (p.Lys905Gln)
c.2449A>C (p.Lys817Gln)
n.4490A>C
11g.108284237A>GCA382524277ATMc.3757A>G (p.Lys1253Glu)
c.3592A>G (p.Lys1198Glu)
c.2713A>G (p.Lys905Glu)
c.2449A>G (p.Lys817Glu)
n.4490A>G
11g.108284237A>TCA382524282ATMc.3757A>T (p.Lys1253Ter)
c.3592A>T (p.Lys1198Ter)
c.2713A>T (p.Lys905Ter)
c.2449A>T (p.Lys817Ter)
n.4490A>T
11g.108284238A>CCA382524288ATMc.3758A>C (p.Lys1253Thr)
c.3593A>C (p.Lys1198Thr)
c.2714A>C (p.Lys905Thr)
c.2450A>C (p.Lys817Thr)
n.4491A>C
11g.108284238A>GCA382524289ATMc.3758A>G (p.Lys1253Arg)
c.3593A>G (p.Lys1198Arg)
c.2714A>G (p.Lys905Arg)
c.2450A>G (p.Lys817Arg)
n.4491A>G
COSMIC COSMIC
11g.108284238A>TCA382524287ATMc.3758A>T (p.Lys1253Met)
c.3593A>T (p.Lys1198Met)
c.2714A>T (p.Lys905Met)
c.2450A>T (p.Lys817Met)
n.4491A>T
11g.108284239G>ACA476744955ATMc.3759G>A (p.Lys1253=)
c.3594G>A (p.Lys1198=)
c.2715G>A (p.Lys905=)
c.2451G>A (p.Lys817=)
n.4492G>A
11g.108284239G>CCA382524296ATMc.3759G>C (p.Lys1253Asn)
c.3594G>C (p.Lys1198Asn)
c.2715G>C (p.Lys905Asn)
c.2451G>C (p.Lys817Asn)
n.4492G>C
11g.108284239G>TCA382524291ATMc.3759G>T (p.Lys1253Asn)
c.3594G>T (p.Lys1198Asn)
c.2715G>T (p.Lys905Asn)
c.2451G>T (p.Lys817Asn)
n.4492G>T
11g.108284240delCA196848ATMc.3760del (p.Val1254PhefsTer2)
c.3595del (p.Val1199PhefsTer2)
c.2716del (p.Val906PhefsTer2)
c.2452del (p.Val818PhefsTer2)
n.4493del
ClinVar dbSNP

Number of alleles fetched