Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.108267176C>ACA476673516ATMc.2472C>A (p.Ser824=)
c.2307C>A (p.Ser769=)
c.1428C>A (p.Ser476=)
c.1164C>A (p.Ser388=)
n.3205C>A
11g.108267176C=CA1998783201ATMc.2472C= (p.Ser824=)
c.2307C= (p.Ser769=)
c.1428C= (p.Ser476=)
c.1164C= (p.Ser388=)
n.3205C=
11g.108267176C>GCA476673517ATMc.2472C>G (p.Ser824=)
c.2307C>G (p.Ser769=)
c.1428C>G (p.Ser476=)
c.1164C>G (p.Ser388=)
n.3205C>G
ClinVar
11g.108267176C>TCA196103ATMc.2472C>T (p.Ser824=)
c.2307C>T (p.Ser769=)
c.1428C>T (p.Ser476=)
c.1164C>T (p.Ser388=)
n.3205C>T
ClinVar dbSNP
11g.108267177T>ACA382543134ATMc.2473T>A (p.Phe825Ile)
c.2308T>A (p.Phe770Ile)
c.1429T>A (p.Phe477Ile)
c.1165T>A (p.Phe389Ile)
n.3206T>A
11g.108267177T>CCA382543132ATMc.2473T>C (p.Phe825Leu)
c.2308T>C (p.Phe770Leu)
c.1429T>C (p.Phe477Leu)
c.1165T>C (p.Phe389Leu)
n.3206T>C
11g.108267177T>GCA382543127ATMc.2473T>G (p.Phe825Val)
c.2308T>G (p.Phe770Val)
c.1429T>G (p.Phe477Val)
c.1165T>G (p.Phe389Val)
n.3206T>G
ClinVar
11g.108267177T=CA1998783202ATMc.2473T= (p.Phe825=)
c.2308T= (p.Phe770=)
c.1429T= (p.Phe477=)
c.1165T= (p.Phe389=)
n.3206T=
11g.108267178T>ACA382543141ATMc.2474T>A (p.Phe825Tyr)
c.2309T>A (p.Phe770Tyr)
c.1430T>A (p.Phe477Tyr)
c.1166T>A (p.Phe389Tyr)
n.3207T>A
11g.108267178T>CCA382543143ATMc.2474T>C (p.Phe825Ser)
c.2309T>C (p.Phe770Ser)
c.1430T>C (p.Phe477Ser)
c.1166T>C (p.Phe389Ser)
n.3207T>C
11g.108267178T>GCA16613284ATMc.2474T>G (p.Phe825Cys)
c.2309T>G (p.Phe770Cys)
c.1430T>G (p.Phe477Cys)
c.1166T>G (p.Phe389Cys)
n.3207T>G
ClinVar
11g.108267178T=CA1998783203ATMc.2474T= (p.Phe825=)
c.2309T= (p.Phe770=)
c.1430T= (p.Phe477=)
c.1166T= (p.Phe389=)
n.3207T=
11g.108267179C>ACA382543149ATMc.2475C>A (p.Phe825Leu)
c.2310C>A (p.Phe770Leu)
c.1431C>A (p.Phe477Leu)
c.1167C>A (p.Phe389Leu)
n.3208C>A
11g.108267179C=CA1998783204ATMc.2475C= (p.Phe825=)
c.2310C= (p.Phe770=)
c.1431C= (p.Phe477=)
c.1167C= (p.Phe389=)
n.3208C=
11g.108267179C>GCA382543152ATMc.2475C>G (p.Phe825Leu)
c.2310C>G (p.Phe770Leu)
c.1431C>G (p.Phe477Leu)
c.1167C>G (p.Phe389Leu)
n.3208C>G
11g.108267179C>TCA6265047ATMc.2475C>T (p.Phe825=)
c.2310C>T (p.Phe770=)
c.1431C>T (p.Phe477=)
c.1167C>T (p.Phe389=)
n.3208C>T
ClinVar dbSNP ExAC gnomAD
11g.108267179dupCA915948365ATMc.2475dup (p.Ile826HisfsTer6)
c.2310dup (p.Ile771HisfsTer6)
c.1431dup (p.Ile478HisfsTer6)
c.1167dup (p.Ile390HisfsTer6)
n.3208dup
ClinVar dbSNP
11g.108267180A=CA1998783205ATMc.2476A= (p.Ile826=)
c.2311A= (p.Ile771=)
c.1432A= (p.Ile478=)
c.1168A= (p.Ile390=)
n.3209A=
11g.108267180A>CCA168126ATMc.2476A>C (p.Ile826Leu)
c.2311A>C (p.Ile771Leu)
c.1432A>C (p.Ile478Leu)
c.1168A>C (p.Ile390Leu)
n.3209A>C
ClinVar dbSNP ExAC gnomAD COSMIC
11g.108267180A>GCA382543162ATMc.2476A>G (p.Ile826Val)
c.2311A>G (p.Ile771Val)
c.1432A>G (p.Ile478Val)
c.1168A>G (p.Ile390Val)
n.3209A>G
11g.108267180A>TCA382543163ATMc.2476A>T (p.Ile826Phe)
c.2311A>T (p.Ile771Phe)
c.1432A>T (p.Ile478Phe)
c.1168A>T (p.Ile390Phe)
n.3209A>T
11g.108267181T>ACA382543168ATMc.2477T>A (p.Ile826Asn)
c.2312T>A (p.Ile771Asn)
c.1433T>A (p.Ile478Asn)
c.1169T>A (p.Ile390Asn)
n.3210T>A
11g.108267181T>CCA382543170ATMc.2477T>C (p.Ile826Thr)
c.2312T>C (p.Ile771Thr)
c.1433T>C (p.Ile478Thr)
c.1169T>C (p.Ile390Thr)
n.3210T>C
11g.108267181T>GCA382543175ATMc.2477T>G (p.Ile826Ser)
c.2312T>G (p.Ile771Ser)
c.1433T>G (p.Ile478Ser)
c.1169T>G (p.Ile390Ser)
n.3210T>G
11g.108267182C>ACA476673524ATMc.2478C>A (p.Ile826=)
c.2313C>A (p.Ile771=)
c.1434C>A (p.Ile478=)
c.1170C>A (p.Ile390=)
n.3211C>A
11g.108267182C=CA1998783207ATMc.2478C= (p.Ile826=)
c.2313C= (p.Ile771=)
c.1434C= (p.Ile478=)
c.1170C= (p.Ile390=)
n.3211C=
11g.108267182C>GCA382543178ATMc.2478C>G (p.Ile826Met)
c.2313C>G (p.Ile771Met)
c.1434C>G (p.Ile478Met)
c.1170C>G (p.Ile390Met)
n.3211C>G
ClinVar
11g.108267182C>TCA476673525ATMc.2478C>T (p.Ile826=)
c.2313C>T (p.Ile771=)
c.1434C>T (p.Ile478=)
c.1170C>T (p.Ile390=)
n.3211C>T
11g.108267182_108267183delinsCACA1998783206ATMc.2478_2479delinsCA (p.Ile826=)
c.2313_2314delinsCA (p.Ile771=)
c.1434_1435delinsCA (p.Ile478=)
c.1170_1171delinsCA (p.Ile390=)
n.3211_3212delinsCA
11g.108267183A>CCA382543181ATMc.2479A>C (p.Lys827Gln)
c.2314A>C (p.Lys772Gln)
c.1435A>C (p.Lys479Gln)
c.1171A>C (p.Lys391Gln)
n.3212A>C
11g.108267183A>GCA382543187ATMc.2479A>G (p.Lys827Glu)
c.2314A>G (p.Lys772Glu)
c.1435A>G (p.Lys479Glu)
c.1171A>G (p.Lys391Glu)
n.3212A>G
11g.108267183A>TCA382543184ATMc.2479A>T (p.Lys827Ter)
c.2314A>T (p.Lys772Ter)
c.1435A>T (p.Lys479Ter)
c.1171A>T (p.Lys391Ter)
n.3212A>T
11g.108267187delCA16619141ATMc.2483del (p.Lys828SerfsTer8)
c.2318del (p.Lys773SerfsTer8)
c.1439del (p.Lys480SerfsTer8)
c.1175del (p.Lys392SerfsTer8)
n.3216del
ClinVar dbSNP
11g.108267184A=CA1998783208ATMc.2480A= (p.Lys827=)
c.2315A= (p.Lys772=)
c.1436A= (p.Lys479=)
c.1172A= (p.Lys391=)
n.3213A=
11g.108267184A>CCA382543190ATMc.2480A>C (p.Lys827Thr)
c.2315A>C (p.Lys772Thr)
c.1436A>C (p.Lys479Thr)
c.1172A>C (p.Lys391Thr)
n.3213A>C
ClinVar
11g.108267184A>GCA337420ATMc.2480A>G (p.Lys827Arg)
c.2315A>G (p.Lys772Arg)
c.1436A>G (p.Lys479Arg)
c.1172A>G (p.Lys391Arg)
n.3213A>G
ClinVar dbSNP ExAC gnomAD
11g.108267184A>TCA382543193ATMc.2480A>T (p.Lys827Ile)
c.2315A>T (p.Lys772Ile)
c.1436A>T (p.Lys479Ile)
c.1172A>T (p.Lys391Ile)
n.3213A>T
11g.108267185A>CCA382543197ATMc.2481A>C (p.Lys827Asn)
c.2316A>C (p.Lys772Asn)
c.1437A>C (p.Lys479Asn)
c.1173A>C (p.Lys391Asn)
n.3214A>C
11g.108267185A>GCA476673528ATMc.2481A>G (p.Lys827=)
c.2316A>G (p.Lys772=)
c.1437A>G (p.Lys479=)
c.1173A>G (p.Lys391=)
n.3214A>G
11g.108267185A>TCA382543198ATMc.2481A>T (p.Lys827Asn)
c.2316A>T (p.Lys772Asn)
c.1437A>T (p.Lys479Asn)
c.1173A>T (p.Lys391Asn)
n.3214A>T
11g.108267186A>CCA382543201ATMc.2482A>C (p.Lys828Gln)
c.2317A>C (p.Lys773Gln)
c.1438A>C (p.Lys480Gln)
c.1174A>C (p.Lys392Gln)
n.3215A>C
11g.108267186A>GCA382543204ATMc.2482A>G (p.Lys828Glu)
c.2317A>G (p.Lys773Glu)
c.1438A>G (p.Lys480Glu)
c.1174A>G (p.Lys392Glu)
n.3215A>G
11g.108267186A>TCA382543208ATMc.2482A>T (p.Lys828Ter)
c.2317A>T (p.Lys773Ter)
c.1438A>T (p.Lys480Ter)
c.1174A>T (p.Lys392Ter)
n.3215A>T
11g.108267187A=CA1998783209ATMc.2483A= (p.Lys828=)
c.2318A= (p.Lys773=)
c.1439A= (p.Lys480=)
c.1175A= (p.Lys392=)
n.3216A=
11g.108267187A>CCA382543212ATMc.2483A>C (p.Lys828Thr)
c.2318A>C (p.Lys773Thr)
c.1439A>C (p.Lys480Thr)
c.1175A>C (p.Lys392Thr)
n.3216A>C
11g.108267187A>GCA382543215ATMc.2483A>G (p.Lys828Arg)
c.2318A>G (p.Lys773Arg)
c.1439A>G (p.Lys480Arg)
c.1175A>G (p.Lys392Arg)
n.3216A>G
11g.108267187A>TCA382543218ATMc.2483A>T (p.Lys828Met)
c.2318A>T (p.Lys773Met)
c.1439A>T (p.Lys480Met)
c.1175A>T (p.Lys392Met)
n.3216A>T
11g.108267188G>ACA476673529ATMc.2484G>A (p.Lys828=)
c.2319G>A (p.Lys773=)
c.1440G>A (p.Lys480=)
c.1176G>A (p.Lys392=)
n.3217G>A
11g.108267188G>CCA382543219ATMc.2484G>C (p.Lys828Asn)
c.2319G>C (p.Lys773Asn)
c.1440G>C (p.Lys480Asn)
c.1176G>C (p.Lys392Asn)
n.3217G>C
11g.108267188G>TCA382543220ATMc.2484G>T (p.Lys828Asn)
c.2319G>T (p.Lys773Asn)
c.1440G>T (p.Lys480Asn)
c.1176G>T (p.Lys392Asn)
n.3217G>T

Number of alleles fetched