| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.108277183_108286122dup | CA2580616436 | ATM | c.3285-2308_3994-1478dup c.*2756-2308_*3465-1478dup n.3435-2308_4144-1478dup c.3120-2308_3829-1478dup c.2241-2308_2950-1478dup c.1977-2308_2686-1478dup n.4018-2308_4727-1478dup | |
| 11 | g.108282509_108282737delinsATCAAGAAAAGTTGAATGAATGTT | CA2580083229 | ATM | c.3577-201_3604delinsATCAAGAAAAGTTGAATGAATGTT c.*3048-201_*3075delinsATCAAGAAAAGTTGAATGAATGTT n.3727-201_3754delinsATCAAGAAAAGTTGAATGAATGTT c.3412-201_3439delinsATCAAGAAAAGTTGAATGAATGTT c.2533-201_2560delinsATCAAGAAAAGTTGAATGAATGTT c.2269-201_2296delinsATCAAGAAAAGTTGAATGAATGTT n.4310-201_4337delinsATCAAGAAAAGTTGAATGAATGTT | ClinVar |
| 11 | g.108282699_108282715delinsGGTTCGTGCAGGTTTTA | CA1998790208 | ATM | c.3577-11_3582delinsGGTTCGTGCAGGTTTTA c.*3048-11_*3053delinsGGTTCGTGCAGGTTTTA n.3727-11_3732delinsGGTTCGTGCAGGTTTTA c.3412-11_3417delinsGGTTCGTGCAGGTTTTA c.2533-11_2538delinsGGTTCGTGCAGGTTTTA c.2269-11_2274delinsGGTTCGTGCAGGTTTTA n.4310-11_4315delinsGGTTCGTGCAGGTTTTA | |
| 11 | g.108282701_108282716del | CA658656220 | ATM | c.3577-9_3583del c.*3048-9_*3054del n.3727-9_3733del c.3412-9_3418del c.2533-9_2539del c.2269-9_2275del n.4310-9_4316del | ClinVar dbSNP gnomAD v4 |
| 11 | g.108282709G>A | CA382522415 | ATM | c.3577-1G>A (n.3577-1G>A) c.*3048-1G>A (n.*3048-1G>A) n.3727-1G>A c.3412-1G>A (n.3412-1G>A) c.2533-1G>A (n.2533-1G>A) c.2269-1G>A (n.2269-1G>A) n.4310-1G>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.108282709G>C | CA16041402 | ATM | c.3577-1G>C (n.3577-1G>C) c.*3048-1G>C (n.*3048-1G>C) n.3727-1G>C c.3412-1G>C (n.3412-1G>C) c.2533-1G>C (n.2533-1G>C) c.2269-1G>C (n.2269-1G>C) n.4310-1G>C | ClinVar dbSNP |
| 11 | g.108282709G= | CA1998790224 | ATM | c.3577-1G= (n.3577-1G=) c.*3048-1G= (n.*3048-1G=) n.3727-1G= c.3412-1G= (n.3412-1G=) c.2533-1G= (n.2533-1G=) c.2269-1G= (n.2269-1G=) n.4310-1G= | |
| 11 | g.108282709G>T | CA382522416 | ATM | c.3577-1G>T (n.3577-1G>T) c.*3048-1G>T (n.*3048-1G>T) n.3727-1G>T c.3412-1G>T (n.3412-1G>T) c.2533-1G>T (n.2533-1G>T) c.2269-1G>T (n.2269-1G>T) n.4310-1G>T | ClinVar dbSNP |
| 11 | g.108282710G>A | CA196377 | ATM | c.3577G>A (p.Val1193Ile) c.*3048G>A (n.*3048G>A) n.3727G>A c.3412G>A (p.Val1138Ile) c.2533G>A (p.Val845Ile) c.2269G>A (p.Val757Ile) n.4310G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.108282710G>C | CA382522420 | ATM | c.3577G>C (p.Val1193Leu) c.*3048G>C (n.*3048G>C) n.3727G>C c.3412G>C (p.Val1138Leu) c.2533G>C (p.Val845Leu) c.2269G>C (p.Val757Leu) n.4310G>C | dbSNP |
| 11 | g.108282710G= | CA1998790226 | ATM | c.3577G= (p.Val1193=) c.*3048G= (n.*3048G=) n.3727G= c.3412G= (p.Val1138=) c.2533G= (p.Val845=) c.2269G= (p.Val757=) n.4310G= | |
| 11 | g.108282710G>T | CA382522422 | ATM | c.3577G>T (p.Val1193Phe) c.*3048G>T (n.*3048G>T) n.3727G>T c.3412G>T (p.Val1138Phe) c.2533G>T (p.Val845Phe) c.2269G>T (p.Val757Phe) n.4310G>T | dbSNP |
| 11 | g.108282711T>A | CA382522440 | ATM | c.3578T>A (p.Val1193Asp) c.*3049T>A (n.*3049T>A) n.3728T>A c.3413T>A (p.Val1138Asp) c.2534T>A (p.Val845Asp) c.2270T>A (p.Val757Asp) n.4311T>A | dbSNP |
| 11 | g.108282711T>C | CA382522437 | ATM | c.3578T>C (p.Val1193Ala) c.*3049T>C (n.*3049T>C) n.3728T>C c.3413T>C (p.Val1138Ala) c.2534T>C (p.Val845Ala) c.2270T>C (p.Val757Ala) n.4311T>C | ClinVar dbSNP |
| 11 | g.108282711T>G | CA382522424 | ATM | c.3578T>G (p.Val1193Gly) c.*3049T>G (n.*3049T>G) n.3728T>G c.3413T>G (p.Val1138Gly) c.2534T>G (p.Val845Gly) c.2270T>G (p.Val757Gly) n.4311T>G | dbSNP |
| 11 | g.108282711T= | CA1998790228 | ATM | c.3578T= (p.Val1193=) c.*3049T= (n.*3049T=) n.3728T= c.3413T= (p.Val1138=) c.2534T= (p.Val845=) c.2270T= (p.Val757=) n.4311T= | |
| 11 | g.108282712T>A | CA476673190 | ATM | c.3579T>A (p.Val1193=) c.*3050T>A (n.*3050T>A) n.3729T>A c.3414T>A (p.Val1138=) c.2535T>A (p.Val845=) c.2271T>A (p.Val757=) n.4312T>A | |
| 11 | g.108282712T>C | CA476673191 | ATM | c.3579T>C (p.Val1193=) c.*3050T>C (n.*3050T>C) n.3729T>C c.3414T>C (p.Val1138=) c.2535T>C (p.Val845=) c.2271T>C (p.Val757=) n.4312T>C | |
| 11 | g.108282712T>G | CA476673192 | ATM | c.3579T>G (p.Val1193=) c.*3050T>G (n.*3050T>G) n.3729T>G c.3414T>G (p.Val1138=) c.2535T>G (p.Val845=) c.2271T>G (p.Val757=) n.4312T>G | ClinVar dbSNP |
| 11 | g.108282712T= | CA1998790230 | ATM | c.3579T= (p.Val1193=) c.*3050T= (n.*3050T=) n.3729T= c.3414T= (p.Val1138=) c.2535T= (p.Val845=) c.2271T= (p.Val757=) n.4312T= | |
| 11 | g.108282713T>A | CA382522445 | ATM | c.3580T>A (p.Leu1194Ile) c.*3051T>A (n.*3051T>A) n.3730T>A c.3415T>A (p.Leu1139Ile) c.2536T>A (p.Leu846Ile) c.2272T>A (p.Leu758Ile) n.4313T>A | dbSNP |
| 11 | g.108282713T>C | CA476673196 | ATM | c.3580T>C (p.Leu1194=) c.*3051T>C (n.*3051T>C) n.3730T>C c.3415T>C (p.Leu1139=) c.2536T>C (p.Leu846=) c.2272T>C (p.Leu758=) n.4313T>C | dbSNP |
| 11 | g.108282713T>G | CA382522448 | ATM | c.3580T>G (p.Leu1194Val) c.*3051T>G (n.*3051T>G) n.3730T>G c.3415T>G (p.Leu1139Val) c.2536T>G (p.Leu846Val) c.2272T>G (p.Leu758Val) n.4313T>G | |
| 11 | g.108282714T>A | CA382522465 | ATM | c.3581T>A (p.Leu1194Ter) c.*3052T>A (n.*3052T>A) n.3731T>A c.3416T>A (p.Leu1139Ter) c.2537T>A (p.Leu846Ter) c.2273T>A (p.Leu758Ter) n.4314T>A | |
| 11 | g.108282714T>C | CA382522469 | ATM | c.3581T>C (p.Leu1194Ser) c.*3052T>C (n.*3052T>C) n.3731T>C c.3416T>C (p.Leu1139Ser) c.2537T>C (p.Leu846Ser) c.2273T>C (p.Leu758Ser) n.4314T>C | ClinVar dbSNP |
| 11 | g.108282714T>G | CA382522472 | ATM | c.3581T>G (p.Leu1194Ter) c.*3052T>G (n.*3052T>G) n.3731T>G c.3416T>G (p.Leu1139Ter) c.2537T>G (p.Leu846Ter) c.2273T>G (p.Leu758Ter) n.4314T>G | |
| 11 | g.108282714T= | CA1998790232 | ATM | c.3581T= (p.Leu1194=) c.*3052T= (n.*3052T=) n.3731T= c.3416T= (p.Leu1139=) c.2537T= (p.Leu846=) c.2273T= (p.Leu758=) n.4314T= | |
| 11 | g.108282715A= | CA1998790233 | ATM | c.3582A= (p.Leu1194=) c.*3053A= (n.*3053A=) n.3732A= c.3417A= (p.Leu1139=) c.2538A= (p.Leu846=) c.2274A= (p.Leu758=) n.4315A= | |
| 11 | g.108282715A>C | CA382522476 | ATM | c.3582A>C (p.Leu1194Phe) c.*3053A>C (n.*3053A>C) n.3732A>C c.3417A>C (p.Leu1139Phe) c.2538A>C (p.Leu846Phe) c.2274A>C (p.Leu758Phe) n.4315A>C | |
| 11 | g.108282715A>G | CA476673197 | ATM | c.3582A>G (p.Leu1194=) c.*3053A>G (n.*3053A>G) n.3732A>G c.3417A>G (p.Leu1139=) c.2538A>G (p.Leu846=) c.2274A>G (p.Leu758=) n.4315A>G | ClinVar dbSNP |
| 11 | g.108282715A>T | CA382522477 | ATM | c.3582A>T (p.Leu1194Phe) c.*3053A>T (n.*3053A>T) n.3732A>T c.3417A>T (p.Leu1139Phe) c.2538A>T (p.Leu846Phe) c.2274A>T (p.Leu758Phe) n.4315A>T | dbSNP |
| 11 | g.108282716G>A | CA382522478 | ATM | c.3583G>A (p.Glu1195Lys) c.*3054G>A (n.*3054G>A) n.3733G>A c.3418G>A (p.Glu1140Lys) c.2539G>A (p.Glu847Lys) c.2275G>A (p.Glu759Lys) n.4316G>A | dbSNP |
| 11 | g.108282716G>C | CA382522479 | ATM | c.3583G>C (p.Glu1195Gln) c.*3054G>C (n.*3054G>C) n.3733G>C c.3418G>C (p.Glu1140Gln) c.2539G>C (p.Glu847Gln) c.2275G>C (p.Glu759Gln) n.4316G>C | ClinVar dbSNP |
| 11 | g.108282716G>T | CA382522480 | ATM | c.3583G>T (p.Glu1195Ter) c.*3054G>T (n.*3054G>T) n.3733G>T c.3418G>T (p.Glu1140Ter) c.2539G>T (p.Glu847Ter) c.2275G>T (p.Glu759Ter) n.4316G>T | |
| 11 | g.108282717A= | CA1998790235 | ATM | c.3584A= (p.Glu1195=) c.*3055A= (n.*3055A=) n.3734A= c.3419A= (p.Glu1140=) c.2540A= (p.Glu847=) c.2276A= (p.Glu759=) n.4317A= | |
| 11 | g.108282717A>C | CA382522482 | ATM | c.3584A>C (p.Glu1195Ala) c.*3055A>C (n.*3055A>C) n.3734A>C c.3419A>C (p.Glu1140Ala) c.2540A>C (p.Glu847Ala) c.2276A>C (p.Glu759Ala) n.4317A>C | |
| 11 | g.108282717A>G | CA382522484 | ATM | c.3584A>G (p.Glu1195Gly) c.*3055A>G (n.*3055A>G) n.3734A>G c.3419A>G (p.Glu1140Gly) c.2540A>G (p.Glu847Gly) c.2276A>G (p.Glu759Gly) n.4317A>G | ClinVar dbSNP |
| 11 | g.108282717A>T | CA382522489 | ATM | c.3584A>T (p.Glu1195Val) c.*3055A>T (n.*3055A>T) n.3734A>T c.3419A>T (p.Glu1140Val) c.2540A>T (p.Glu847Val) c.2276A>T (p.Glu759Val) n.4317A>T | dbSNP |
| 11 | g.108282718G>A | CA476673201 | ATM | c.3585G>A (p.Glu1195=) c.*3056G>A (n.*3056G>A) n.3735G>A c.3420G>A (p.Glu1140=) c.2541G>A (p.Glu847=) c.2277G>A (p.Glu759=) n.4318G>A | ClinVar dbSNP |
| 11 | g.108282718G>C | CA382522498 | ATM | c.3585G>C (p.Glu1195Asp) c.*3056G>C (n.*3056G>C) n.3735G>C c.3420G>C (p.Glu1140Asp) c.2541G>C (p.Glu847Asp) c.2277G>C (p.Glu759Asp) n.4318G>C | dbSNP |
| 11 | g.108282718G= | CA1998790237 | ATM | c.3585G= (p.Glu1195=) c.*3056G= (n.*3056G=) n.3735G= c.3420G= (p.Glu1140=) c.2541G= (p.Glu847=) c.2277G= (p.Glu759=) n.4318G= | |
| 11 | g.108282718G>T | CA382522494 | ATM | c.3585G>T (p.Glu1195Asp) c.*3056G>T (n.*3056G>T) n.3735G>T c.3420G>T (p.Glu1140Asp) c.2541G>T (p.Glu847Asp) c.2277G>T (p.Glu759Asp) n.4318G>T | dbSNP COSMIC COSMIC |
| 11 | g.108282719A>C | CA382522504 | ATM | c.3586A>C (p.Lys1196Gln) c.*3057A>C (n.*3057A>C) n.3736A>C c.3421A>C (p.Lys1141Gln) c.2542A>C (p.Lys848Gln) c.2278A>C (p.Lys760Gln) n.4319A>C | |
| 11 | g.108282719A>G | CA382522522 | ATM | c.3586A>G (p.Lys1196Glu) c.*3057A>G (n.*3057A>G) n.3736A>G c.3421A>G (p.Lys1141Glu) c.2542A>G (p.Lys848Glu) c.2278A>G (p.Lys760Glu) n.4319A>G | ClinVar dbSNP |
| 11 | g.108282719A>T | CA382522524 | ATM | c.3586A>T (p.Lys1196Ter) c.*3057A>T (n.*3057A>T) n.3736A>T c.3421A>T (p.Lys1141Ter) c.2542A>T (p.Lys848Ter) c.2278A>T (p.Lys760Ter) n.4319A>T | dbSNP COSMIC COSMIC |
| 11 | g.108282720_108282721del | CA2739270907 | ATM | c.3587_3588del (p.Lys1196SerfsTer3) c.*3058_*3059del (n.*3058_*3059del) n.3737_3738del c.3422_3423del (p.Lys1141SerfsTer3) c.2543_2544del (p.Lys848SerfsTer3) c.2279_2280del (p.Lys760SerfsTer3) n.4320_4321del | |
| 11 | g.108282720A>C | CA382522527 | ATM | c.3587A>C (p.Lys1196Thr) c.*3058A>C (n.*3058A>C) n.3737A>C c.3422A>C (p.Lys1141Thr) c.2543A>C (p.Lys848Thr) c.2279A>C (p.Lys760Thr) n.4320A>C | |
| 11 | g.108282720A>G | CA382522529 | ATM | c.3587A>G (p.Lys1196Arg) c.*3058A>G (n.*3058A>G) n.3737A>G c.3422A>G (p.Lys1141Arg) c.2543A>G (p.Lys848Arg) c.2279A>G (p.Lys760Arg) n.4320A>G | |
| 11 | g.108282720A>T | CA382522532 | ATM | c.3587A>T (p.Lys1196Ile) c.*3058A>T (n.*3058A>T) n.3737A>T c.3422A>T (p.Lys1141Ile) c.2543A>T (p.Lys848Ile) c.2279A>T (p.Lys760Ile) n.4320A>T | ClinVar |
| 11 | g.108282721A= | CA1998790239 | ATM | c.3588A= (p.Lys1196=) c.*3059A= (n.*3059A=) n.3738A= c.3423A= (p.Lys1141=) c.2544A= (p.Lys848=) c.2280A= (p.Lys760=) n.4321A= |