Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.108251895_108260357delCA916080444ATMc.1666_2466+1282del
c.1501_2301+1282del
c.622_1422+1282del
c.358_1158+1282del
n.2399_3199+1282del
11g.108258984A>CCA382540983ATMc.2377-2A>C (p.=)
c.2212-2A>C (p.=)
c.1333-2A>C (p.=)
c.1069-2A>C (p.=)
n.3110-2A>C
11g.108258984A>GCA16041391ATMc.2377-2A>G (p.=)
c.2212-2A>G (p.=)
c.1333-2A>G (p.=)
c.1069-2A>G (p.=)
n.3110-2A>G
ClinVar dbSNP
11g.108258984A>TCA382540985ATMc.2377-2A>T (p.=)
c.2212-2A>T (p.=)
c.1333-2A>T (p.=)
c.1069-2A>T (p.=)
n.3110-2A>T
11g.108258985G>ACA382540989ATMc.2377-1G>A (p.=)
c.2212-1G>A (p.=)
c.1333-1G>A (p.=)
c.1069-1G>A (p.=)
n.3110-1G>A
COSMIC COSMIC
11g.108258985G>CCA382540992ATMc.2377-1G>C (p.=)
c.2212-1G>C (p.=)
c.1333-1G>C (p.=)
c.1069-1G>C (p.=)
n.3110-1G>C
11g.108258985G>TCA382540993ATMc.2377-1G>T (p.=)
c.2212-1G>T (p.=)
c.1333-1G>T (p.=)
c.1069-1G>T (p.=)
n.3110-1G>T
11g.108258986A>CCA382540996ATMc.2377A>C (p.Lys793Gln)
c.2212A>C (p.Lys738Gln)
c.1333A>C (p.Lys445Gln)
c.1069A>C (p.Lys357Gln)
n.3110A>C
ClinVar
11g.108258986A>GCA164793ATMc.2377A>G (p.Lys793Glu)
c.2212A>G (p.Lys738Glu)
c.1333A>G (p.Lys445Glu)
c.1069A>G (p.Lys357Glu)
n.3110A>G
ClinVar dbSNP gnomAD
11g.108258986A>TCA382540998ATMc.2377A>T (p.Lys793Ter)
c.2212A>T (p.Lys738Ter)
c.1333A>T (p.Lys445Ter)
c.1069A>T (p.Lys357Ter)
n.3110A>T
11g.108258986_108258987dupCA16041392ATMc.2377_2378dup (p.Ser794ArgfsTer15)
c.2212_2213dup (p.Ser739ArgfsTer15)
c.1333_1334dup (p.Ser446ArgfsTer15)
c.1069_1070dup (p.Ser358ArgfsTer15)
n.3110_3111dup
ClinVar dbSNP
11g.108258987A>CCA382541004ATMc.2378A>C (p.Lys793Thr)
c.2213A>C (p.Lys738Thr)
c.1334A>C (p.Lys445Thr)
c.1070A>C (p.Lys357Thr)
n.3111A>C
11g.108258987A>GCA382541002ATMc.2378A>G (p.Lys793Arg)
c.2213A>G (p.Lys738Arg)
c.1334A>G (p.Lys445Arg)
c.1070A>G (p.Lys357Arg)
n.3111A>G
COSMIC COSMIC
11g.108258987A>TCA382541000ATMc.2378A>T (p.Lys793Met)
c.2213A>T (p.Lys738Met)
c.1334A>T (p.Lys445Met)
c.1070A>T (p.Lys357Met)
n.3111A>T
11g.108258988G>ACA476672802ATMc.2379G>A (p.Lys793=)
c.2214G>A (p.Lys738=)
c.1335G>A (p.Lys445=)
c.1071G>A (p.Lys357=)
n.3112G>A
gnomAD
11g.108258988G>CCA382541008ATMc.2379G>C (p.Lys793Asn)
c.2214G>C (p.Lys738Asn)
c.1335G>C (p.Lys445Asn)
c.1071G>C (p.Lys357Asn)
n.3112G>C
11g.108258988G>TCA382541011ATMc.2379G>T (p.Lys793Asn)
c.2214G>T (p.Lys738Asn)
c.1335G>T (p.Lys445Asn)
c.1071G>T (p.Lys357Asn)
n.3112G>T
11g.108258989A>CCA10579052ATMc.2380A>C (p.Ser794Arg)
c.2215A>C (p.Ser739Arg)
c.1336A>C (p.Ser446Arg)
c.1072A>C (p.Ser358Arg)
n.3113A>C
ClinVar dbSNP
11g.108258989A>GCA382541014ATMc.2380A>G (p.Ser794Gly)
c.2215A>G (p.Ser739Gly)
c.1336A>G (p.Ser446Gly)
c.1072A>G (p.Ser358Gly)
n.3113A>G
11g.108258989A>TCA382541017ATMc.2380A>T (p.Ser794Cys)
c.2215A>T (p.Ser739Cys)
c.1336A>T (p.Ser446Cys)
c.1072A>T (p.Ser358Cys)
n.3113A>T
11g.108258990G>ACA382541021ATMc.2381G>A (p.Ser794Asn)
c.2216G>A (p.Ser739Asn)
c.1337G>A (p.Ser446Asn)
c.1073G>A (p.Ser358Asn)
n.3114G>A
11g.108258990G>CCA382541023ATMc.2381G>C (p.Ser794Thr)
c.2216G>C (p.Ser739Thr)
c.1337G>C (p.Ser446Thr)
c.1073G>C (p.Ser358Thr)
n.3114G>C
gnomAD
11g.108258990G>TCA382541024ATMc.2381G>T (p.Ser794Ile)
c.2216G>T (p.Ser739Ile)
c.1337G>T (p.Ser446Ile)
c.1073G>T (p.Ser358Ile)
n.3114G>T
11g.108258991T>ACA382541027ATMc.2382T>A (p.Ser794Arg)
c.2217T>A (p.Ser739Arg)
c.1338T>A (p.Ser446Arg)
c.1074T>A (p.Ser358Arg)
n.3115T>A
ClinVar
11g.108258991T>CCA476672806ATMc.2382T>C (p.Ser794=)
c.2217T>C (p.Ser739=)
c.1338T>C (p.Ser446=)
c.1074T>C (p.Ser358=)
n.3115T>C
11g.108258991T>GCA382541030ATMc.2382T>G (p.Ser794Arg)
c.2217T>G (p.Ser739Arg)
c.1338T>G (p.Ser446Arg)
c.1074T>G (p.Ser358Arg)
n.3115T>G
11g.108258992C>ACA382541033ATMc.2383C>A (p.Pro795Thr)
c.2218C>A (p.Pro740Thr)
c.1339C>A (p.Pro447Thr)
c.1075C>A (p.Pro359Thr)
n.3116C>A
11g.108258992C>GCA382541034ATMc.2383C>G (p.Pro795Ala)
c.2218C>G (p.Pro740Ala)
c.1339C>G (p.Pro447Ala)
c.1075C>G (p.Pro359Ala)
n.3116C>G
ClinVar
11g.108258992C>TCA16613089ATMc.2383C>T (p.Pro795Ser)
c.2218C>T (p.Pro740Ser)
c.1339C>T (p.Pro447Ser)
c.1075C>T (p.Pro359Ser)
n.3116C>T
ClinVar
11g.108258993C>ACA382541042ATMc.2384C>A (p.Pro795Gln)
c.2219C>A (p.Pro740Gln)
c.1340C>A (p.Pro447Gln)
c.1076C>A (p.Pro359Gln)
n.3117C>A
11g.108258993C>GCA382541043ATMc.2384C>G (p.Pro795Arg)
c.2219C>G (p.Pro740Arg)
c.1340C>G (p.Pro447Arg)
c.1076C>G (p.Pro359Arg)
n.3117C>G
11g.108258993C>TCA382541039ATMc.2384C>T (p.Pro795Leu)
c.2219C>T (p.Pro740Leu)
c.1340C>T (p.Pro447Leu)
c.1076C>T (p.Pro359Leu)
n.3117C>T
11g.108258994A>CCA476672809ATMc.2385A>C (p.Pro795=)
c.2220A>C (p.Pro740=)
c.1341A>C (p.Pro447=)
c.1077A>C (p.Pro359=)
n.3118A>C
11g.108258994A>GCA476672810ATMc.2385A>G (p.Pro795=)
c.2220A>G (p.Pro740=)
c.1341A>G (p.Pro447=)
c.1077A>G (p.Pro359=)
n.3118A>G
11g.108258994A>TCA476672812ATMc.2385A>T (p.Pro795=)
c.2220A>T (p.Pro740=)
c.1341A>T (p.Pro447=)
c.1077A>T (p.Pro359=)
n.3118A>T
11g.108258995A>CCA166309ATMc.2386A>C (p.Asn796His)
c.2221A>C (p.Asn741His)
c.1342A>C (p.Asn448His)
c.1078A>C (p.Asn360His)
n.3119A>C
ClinVar dbSNP ExAC gnomAD
11g.108258995A>GCA382541048ATMc.2386A>G (p.Asn796Asp)
c.2221A>G (p.Asn741Asp)
c.1342A>G (p.Asn448Asp)
c.1078A>G (p.Asn360Asp)
n.3119A>G
11g.108258995A>TCA350217ATMc.2386A>T (p.Asn796Tyr)
c.2221A>T (p.Asn741Tyr)
c.1342A>T (p.Asn448Tyr)
c.1078A>T (p.Asn360Tyr)
n.3119A>T
ClinVar dbSNP gnomAD
11g.108258996A>CCA382541052ATMc.2387A>C (p.Asn796Thr)
c.2222A>C (p.Asn741Thr)
c.1343A>C (p.Asn448Thr)
c.1079A>C (p.Asn360Thr)
n.3120A>C
COSMIC COSMIC
11g.108258996A>GCA382541056ATMc.2387A>G (p.Asn796Ser)
c.2222A>G (p.Asn741Ser)
c.1343A>G (p.Asn448Ser)
c.1079A>G (p.Asn360Ser)
n.3120A>G
ClinVar
11g.108258996A>TCA382541054ATMc.2387A>T (p.Asn796Ile)
c.2222A>T (p.Asn741Ile)
c.1343A>T (p.Asn448Ile)
c.1079A>T (p.Asn360Ile)
n.3120A>T
ClinVar
11g.108258997T>ACA382541059ATMc.2388T>A (p.Asn796Lys)
c.2223T>A (p.Asn741Lys)
c.1344T>A (p.Asn448Lys)
c.1080T>A (p.Asn360Lys)
n.3121T>A
11g.108258997T>CCA476672819ATMc.2388T>C (p.Asn796=)
c.2223T>C (p.Asn741=)
c.1344T>C (p.Asn448=)
c.1080T>C (p.Asn360=)
n.3121T>C
11g.108258997T>GCA382541062ATMc.2388T>G (p.Asn796Lys)
c.2223T>G (p.Asn741Lys)
c.1344T>G (p.Asn448Lys)
c.1080T>G (p.Asn360Lys)
n.3121T>G
11g.108258998A>CCA382541065ATMc.2389A>C (p.Lys797Gln)
c.2224A>C (p.Lys742Gln)
c.1345A>C (p.Lys449Gln)
c.1081A>C (p.Lys361Gln)
n.3122A>C
11g.108258998A>GCA382541068ATMc.2389A>G (p.Lys797Glu)
c.2224A>G (p.Lys742Glu)
c.1345A>G (p.Lys449Glu)
c.1081A>G (p.Lys361Glu)
n.3122A>G
11g.108258998A>TCA382541069ATMc.2389A>T (p.Lys797Ter)
c.2224A>T (p.Lys742Ter)
c.1345A>T (p.Lys449Ter)
c.1081A>T (p.Lys361Ter)
n.3122A>T
11g.108258999A>CCA382541072ATMc.2390A>C (p.Lys797Thr)
c.2225A>C (p.Lys742Thr)
c.1346A>C (p.Lys449Thr)
c.1082A>C (p.Lys361Thr)
n.3123A>C
11g.108258999A>GCA382541075ATMc.2390A>G (p.Lys797Arg)
c.2225A>G (p.Lys742Arg)
c.1346A>G (p.Lys449Arg)
c.1082A>G (p.Lys361Arg)
n.3123A>G
11g.108258999A>TCA382541077ATMc.2390A>T (p.Lys797Met)
c.2225A>T (p.Lys742Met)
c.1346A>T (p.Lys449Met)
c.1082A>T (p.Lys361Met)
n.3123A>T

Number of alleles fetched