| 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.108283331_108289728del | CA1139662230 | ATM | c.3746+452_4363del c.*3217+452_*3834del n.3896+452_4513del c.3581+452_4198del c.2702+452_3319del c.2438+452_3055del n.4479+452_5096del | ClinVar |
| 11 | g.108284353_108284472del | CA645579304 | ATM | c.3873_3992del (p.Val1292_Gln1331del) c.*3344_*3463del (n.*3344_*3463del) n.220_339del n.4023_4142del c.3708_3827del (p.Val1237_Gln1276del) c.2829_2948del (p.Val944_Gln983del) c.2565_2684del (p.Val856_Gln895del) n.4606_4725del | COSMIC |
| 11 | g.108284357_108284473dup | CA915944404 | ATM | c.3877_3993dup (p.Gln1331_Ile1332insAsnIleLeuProTyrPheAlaTyrGluGlyThrArgAspSerGlyMetAlaGlnGlnArgGluThrAlaThrLysValTyrAspMetLeuLysSerGluAsnLeuLeuGlyLysGln) c.*3348_*3464dup (n.*3348_*3464dup) n.224_340dup n.4027_4143dup c.3712_3828dup (p.Gln1276_Ile1277insAsnIleLeuProTyrPheAlaTyrGluGlyThrArgAspSerGlyMetAlaGlnGlnArgGluThrAlaThrLysValTyrAspMetLeuLysSerGluAsnLeuLeuGlyLysGln) c.2833_2949dup (p.Gln983_Ile984insAsnIleLeuProTyrPheAlaTyrGluGlyThrArgAspSerGlyMetAlaGlnGlnArgGluThrAlaThrLysValTyrAspMetLeuLysSerGluAsnLeuLeuGlyLysGln) c.2569_2685dup (p.Gln895_Ile896insAsnIleLeuProTyrPheAlaTyrGluGlyThrArgAspSerGlyMetAlaGlnGlnArgGluThrAlaThrLysValTyrAspMetLeuLysSerGluAsnLeuLeuGlyLysGln) n.4610_4726dup | ClinVar dbSNP |
| 11 | g.108284358_108287600dup | CA916079969 | ATM | c.3878_3994dup c.*3349_*3465dup n.4028_4144dup c.3713_3829dup c.2834_2950dup c.2570_2686dup n.4611_4727dup | |
| 11 | g.108284366_108284369del | CA2580083292 | ATM | c.3886_3889del (p.Pro1296IlefsTer?) c.*3357_*3360del (n.*3357_*3360del) n.233_236del n.4036_4039del c.3721_3724del (p.Pro1241IlefsTer?) c.2842_2845del (p.Pro948IlefsTer?) c.2578_2581del (p.Pro860IlefsTer?) n.4619_4622del | ClinVar |
| 11 | g.108284366_108284368delinsACA | CA10579127 | ATM | c.3886_3888delinsACA (p.Pro1296Thr) c.*3357_*3359delinsACA (n.*3357_*3359delinsACA) n.233_235delinsACA n.4036_4038delinsACA c.3721_3723delinsACA (p.Pro1241Thr) c.2842_2844delinsACA (p.Pro948Thr) c.2578_2580delinsACA (p.Pro860Thr) n.4619_4621delinsACA | ClinVar dbSNP |
| 11 | g.108284366_108284368delinsCCT | CA1998792025 | ATM | c.3886_3888delinsCCT (p.Pro1296=) c.*3357_*3359delinsCCT (n.*3357_*3359delinsCCT) n.233_235delinsCCT n.4036_4038delinsCCT c.3721_3723delinsCCT (p.Pro1241=) c.2842_2844delinsCCT (p.Pro948=) c.2578_2580delinsCCT (p.Pro860=) n.4619_4621delinsCCT | |
| 11 | g.108284367C>A | CA382525471 | ATM | c.3887C>A (p.Pro1296His) c.*3358C>A (n.*3358C>A) n.234C>A n.4037C>A c.3722C>A (p.Pro1241His) c.2843C>A (p.Pro948His) c.2579C>A (p.Pro860His) n.4620C>A | dbSNP |
| 11 | g.108284367C>G | CA382525474 | ATM | c.3887C>G (p.Pro1296Arg) c.*3358C>G (n.*3358C>G) n.234C>G n.4037C>G c.3722C>G (p.Pro1241Arg) c.2843C>G (p.Pro948Arg) c.2579C>G (p.Pro860Arg) n.4620C>G | dbSNP |
| 11 | g.108284367C>T | CA382525477 | ATM | c.3887C>T (p.Pro1296Leu) c.*3358C>T (n.*3358C>T) n.234C>T n.4037C>T c.3722C>T (p.Pro1241Leu) c.2843C>T (p.Pro948Leu) c.2579C>T (p.Pro860Leu) n.4620C>T | dbSNP COSMIC |
| 11 | g.108284368T>A | CA476745086 | ATM | c.3888T>A (p.Pro1296=) c.*3359T>A (n.*3359T>A) n.235T>A n.4038T>A c.3723T>A (p.Pro1241=) c.2844T>A (p.Pro948=) c.2580T>A (p.Pro860=) n.4621T>A | dbSNP |
| 11 | g.108284368T>C | CA476745088 | ATM | c.3888T>C (p.Pro1296=) c.*3359T>C (n.*3359T>C) n.235T>C n.4038T>C c.3723T>C (p.Pro1241=) c.2844T>C (p.Pro948=) c.2580T>C (p.Pro860=) n.4621T>C | ClinVar dbSNP gnomAD v4 |
| 11 | g.108284368T>G | CA476745090 | ATM | c.3888T>G (p.Pro1296=) c.*3359T>G (n.*3359T>G) n.235T>G n.4038T>G c.3723T>G (p.Pro1241=) c.2844T>G (p.Pro948=) c.2580T>G (p.Pro860=) n.4621T>G | |
| 11 | g.108284368T= | CA1998792034 | ATM | c.3888T= (p.Pro1296=) c.*3359T= (n.*3359T=) n.235T= n.4038T= c.3723T= (p.Pro1241=) c.2844T= (p.Pro948=) c.2580T= (p.Pro860=) n.4621T= | |
| 11 | g.108284369T>A | CA382525491 | ATM | c.3889T>A (p.Tyr1297Asn) c.*3360T>A (n.*3360T>A) n.236T>A n.4039T>A c.3724T>A (p.Tyr1242Asn) c.2845T>A (p.Tyr949Asn) c.2581T>A (p.Tyr861Asn) n.4622T>A | |
| 11 | g.108284369T>C | CA6265360 | ATM | c.3889T>C (p.Tyr1297His) c.*3360T>C (n.*3360T>C) n.236T>C n.4039T>C c.3724T>C (p.Tyr1242His) c.2845T>C (p.Tyr949His) c.2581T>C (p.Tyr861His) n.4622T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.108284369T>G | CA382525489 | ATM | c.3889T>G (p.Tyr1297Asp) c.*3360T>G (n.*3360T>G) n.236T>G n.4039T>G c.3724T>G (p.Tyr1242Asp) c.2845T>G (p.Tyr949Asp) c.2581T>G (p.Tyr861Asp) n.4622T>G | |
| 11 | g.108284369T= | CA1998792037 | ATM | c.3889T= (p.Tyr1297=) c.*3360T= (n.*3360T=) n.236T= n.4039T= c.3724T= (p.Tyr1242=) c.2845T= (p.Tyr949=) c.2581T= (p.Tyr861=) n.4622T= | |
| 11 | g.108284370A= | CA1998792045 | ATM | c.3890A= (p.Tyr1297=) c.*3361A= (n.*3361A=) n.237A= n.4040A= c.3725A= (p.Tyr1242=) c.2846A= (p.Tyr949=) c.2582A= (p.Tyr861=) n.4623A= | |
| 11 | g.108284370A>C | CA382525499 | ATM | c.3890A>C (p.Tyr1297Ser) c.*3361A>C (n.*3361A>C) n.237A>C n.4040A>C c.3725A>C (p.Tyr1242Ser) c.2846A>C (p.Tyr949Ser) c.2582A>C (p.Tyr861Ser) n.4623A>C | gnomAD v4 |
| 11 | g.108284370A>G | CA382525502 | ATM | c.3890A>G (p.Tyr1297Cys) c.*3361A>G (n.*3361A>G) n.237A>G n.4040A>G c.3725A>G (p.Tyr1242Cys) c.2846A>G (p.Tyr949Cys) c.2582A>G (p.Tyr861Cys) n.4623A>G | ClinVar dbSNP |
| 11 | g.108284370A>T | CA382525501 | ATM | c.3890A>T (p.Tyr1297Phe) c.*3361A>T (n.*3361A>T) n.237A>T n.4040A>T c.3725A>T (p.Tyr1242Phe) c.2846A>T (p.Tyr949Phe) c.2582A>T (p.Tyr861Phe) n.4623A>T | gnomAD v4 |
| 11 | g.108284371T>A | CA382525504 | ATM | c.3891T>A (p.Tyr1297Ter) c.*3362T>A (n.*3362T>A) n.238T>A n.4041T>A c.3726T>A (p.Tyr1242Ter) c.2847T>A (p.Tyr949Ter) c.2583T>A (p.Tyr861Ter) n.4624T>A | |
| 11 | g.108284371T>C | CA476745091 | ATM | c.3891T>C (p.Tyr1297=) c.*3362T>C (n.*3362T>C) n.238T>C n.4041T>C c.3726T>C (p.Tyr1242=) c.2847T>C (p.Tyr949=) c.2583T>C (p.Tyr861=) n.4624T>C | ClinVar dbSNP |
| 11 | g.108284371T>G | CA382525506 | ATM | c.3891T>G (p.Tyr1297Ter) c.*3362T>G (n.*3362T>G) n.238T>G n.4041T>G c.3726T>G (p.Tyr1242Ter) c.2847T>G (p.Tyr949Ter) c.2583T>G (p.Tyr861Ter) n.4624T>G | COSMIC COSMIC |
| 11 | g.108284374dup | CA165711 | ATM | c.3894dup (p.Ala1299CysfsTer3) c.*3365dup (n.*3365dup) n.241dup n.4044dup c.3729dup (p.Ala1244CysfsTer3) c.2850dup (p.Ala951CysfsTer3) c.2586dup (p.Ala863CysfsTer3) n.4627dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.108284372T>A | CA382525512 | ATM | c.3892T>A (p.Phe1298Ile) c.*3363T>A (n.*3363T>A) n.239T>A n.4042T>A c.3727T>A (p.Phe1243Ile) c.2848T>A (p.Phe950Ile) c.2584T>A (p.Phe862Ile) n.4625T>A | |
| 11 | g.108284372T>C | CA382525513 | ATM | c.3892T>C (p.Phe1298Leu) c.*3363T>C (n.*3363T>C) n.239T>C n.4042T>C c.3727T>C (p.Phe1243Leu) c.2848T>C (p.Phe950Leu) c.2584T>C (p.Phe862Leu) n.4625T>C | |
| 11 | g.108284372T>G | CA382525518 | ATM | c.3892T>G (p.Phe1298Val) c.*3363T>G (n.*3363T>G) n.239T>G n.4042T>G c.3727T>G (p.Phe1243Val) c.2848T>G (p.Phe950Val) c.2584T>G (p.Phe862Val) n.4625T>G | |
| 11 | g.108284373T>A | CA382525521 | ATM | c.3893T>A (p.Phe1298Tyr) c.*3364T>A (n.*3364T>A) n.240T>A n.4043T>A c.3728T>A (p.Phe1243Tyr) c.2849T>A (p.Phe950Tyr) c.2585T>A (p.Phe862Tyr) n.4626T>A | dbSNP |
| 11 | g.108284373T>C | CA382525523 | ATM | c.3893T>C (p.Phe1298Ser) c.*3364T>C (n.*3364T>C) n.240T>C n.4043T>C c.3728T>C (p.Phe1243Ser) c.2849T>C (p.Phe950Ser) c.2585T>C (p.Phe862Ser) n.4626T>C | dbSNP |
| 11 | g.108284373T>G | CA382525525 | ATM | c.3893T>G (p.Phe1298Cys) c.*3364T>G (n.*3364T>G) n.240T>G n.4043T>G c.3728T>G (p.Phe1243Cys) c.2849T>G (p.Phe950Cys) c.2585T>G (p.Phe862Cys) n.4626T>G | |
| 11 | g.108284374T>A | CA382525532 | ATM | c.3894T>A (p.Phe1298Leu) c.*3365T>A (n.*3365T>A) n.241T>A n.4044T>A c.3729T>A (p.Phe1243Leu) c.2850T>A (p.Phe950Leu) c.2586T>A (p.Phe862Leu) n.4627T>A | |
| 11 | g.108284374T>C | CA476745095 | ATM | c.3894T>C (p.Phe1298=) c.*3365T>C (n.*3365T>C) n.241T>C n.4044T>C c.3729T>C (p.Phe1243=) c.2850T>C (p.Phe950=) c.2586T>C (p.Phe862=) n.4627T>C | dbSNP |
| 11 | g.108284374T>G | CA382525535 | ATM | c.3894T>G (p.Phe1298Leu) c.*3365T>G (n.*3365T>G) n.241T>G n.4044T>G c.3729T>G (p.Phe1243Leu) c.2850T>G (p.Phe950Leu) c.2586T>G (p.Phe862Leu) n.4627T>G | |
| 11 | g.108284374_108284375delinsTG | CA1998792052 | ATM | c.3894_3895delinsTG (p.Phe1298=) c.*3365_*3366delinsTG (n.*3365_*3366delinsTG) n.241_242delinsTG n.4044_4045delinsTG c.3729_3730delinsTG (p.Phe1243=) c.2850_2851delinsTG (p.Phe950=) c.2586_2587delinsTG (p.Phe862=) n.4627_4628delinsTG | |
| 11 | g.108284375del | CA196828 | ATM | c.3895del (p.Ala1299ProfsTer?) c.*3366del (n.*3366del) n.242del n.4045del c.3730del (p.Ala1244ProfsTer?) c.2851del (p.Ala951ProfsTer?) c.2587del (p.Ala863ProfsTer?) n.4628del | ClinVar dbSNP |
| 11 | g.108284375G>A | CA382525549 | ATM | c.3895G>A (p.Ala1299Thr) c.*3366G>A (n.*3366G>A) n.242G>A n.4045G>A c.3730G>A (p.Ala1244Thr) c.2851G>A (p.Ala951Thr) c.2587G>A (p.Ala863Thr) n.4628G>A | dbSNP |
| 11 | g.108284375G>C | CA382525548 | ATM | c.3895G>C (p.Ala1299Pro) c.*3366G>C (n.*3366G>C) n.242G>C n.4045G>C c.3730G>C (p.Ala1244Pro) c.2851G>C (p.Ala951Pro) c.2587G>C (p.Ala863Pro) n.4628G>C | dbSNP |
| 11 | g.108284375G>T | CA382525547 | ATM | c.3895G>T (p.Ala1299Ser) c.*3366G>T (n.*3366G>T) n.242G>T n.4045G>T c.3730G>T (p.Ala1244Ser) c.2851G>T (p.Ala951Ser) c.2587G>T (p.Ala863Ser) n.4628G>T | dbSNP |
| 11 | g.108284376C>A | CA382525550 | ATM | c.3896C>A (p.Ala1299Asp) c.*3367C>A (n.*3367C>A) n.243C>A n.4046C>A c.3731C>A (p.Ala1244Asp) c.2852C>A (p.Ala951Asp) c.2588C>A (p.Ala863Asp) n.4629C>A | dbSNP |
| 11 | g.108284376C= | CA1998792056 | ATM | c.3896C= (p.Ala1299=) c.*3367C= (n.*3367C=) n.243C= n.4046C= c.3731C= (p.Ala1244=) c.2852C= (p.Ala951=) c.2588C= (p.Ala863=) n.4629C= | |
| 11 | g.108284376C>G | CA382525564 | ATM | c.3896C>G (p.Ala1299Gly) c.*3367C>G (n.*3367C>G) n.243C>G n.4046C>G c.3731C>G (p.Ala1244Gly) c.2852C>G (p.Ala951Gly) c.2588C>G (p.Ala863Gly) n.4629C>G | dbSNP |
| 11 | g.108284376C>T | CA196094 | ATM | c.3896C>T (p.Ala1299Val) c.*3367C>T (n.*3367C>T) n.243C>T n.4046C>T c.3731C>T (p.Ala1244Val) c.2852C>T (p.Ala951Val) c.2588C>T (p.Ala863Val) n.4629C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.108284377C>A | CA476745097 | ATM | c.3897C>A (p.Ala1299=) c.*3368C>A (n.*3368C>A) n.244C>A n.4047C>A c.3732C>A (p.Ala1244=) c.2853C>A (p.Ala951=) c.2589C>A (p.Ala863=) n.4630C>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.108284377C= | CA1998792057 | ATM | c.3897C= (p.Ala1299=) c.*3368C= (n.*3368C=) n.244C= n.4047C= c.3732C= (p.Ala1244=) c.2853C= (p.Ala951=) c.2589C= (p.Ala863=) n.4630C= | |
| 11 | g.108284377C>G | CA6265361 | ATM | c.3897C>G (p.Ala1299=) c.*3368C>G (n.*3368C>G) n.244C>G n.4047C>G c.3732C>G (p.Ala1244=) c.2853C>G (p.Ala951=) c.2589C>G (p.Ala863=) n.4630C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.108284377C>T | CA476745098 | ATM | c.3897C>T (p.Ala1299=) c.*3368C>T (n.*3368C>T) n.244C>T n.4047C>T c.3732C>T (p.Ala1244=) c.2853C>T (p.Ala951=) c.2589C>T (p.Ala863=) n.4630C>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.108284378T>A | CA382525579 | ATM | c.3898T>A (p.Tyr1300Asn) c.*3369T>A (n.*3369T>A) n.245T>A n.4048T>A c.3733T>A (p.Tyr1245Asn) c.2854T>A (p.Tyr952Asn) c.2590T>A (p.Tyr864Asn) n.4631T>A | dbSNP |