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.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 | ClinVar |
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 | ClinVar 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 | ClinVar dbSNP |
11 | g.108284378T>C | CA382525581 | ATM | c.3898T>C (p.Tyr1300His) c.*3369T>C (n.*3369T>C) n.245T>C n.4048T>C c.3733T>C (p.Tyr1245His) c.2854T>C (p.Tyr952His) c.2590T>C (p.Tyr864His) n.4631T>C | ClinVar dbSNP |
11 | g.108284378T>G | CA382525582 | ATM | c.3898T>G (p.Tyr1300Asp) c.*3369T>G (n.*3369T>G) n.245T>G n.4048T>G c.3733T>G (p.Tyr1245Asp) c.2854T>G (p.Tyr952Asp) c.2590T>G (p.Tyr864Asp) n.4631T>G | |
11 | g.108284378T= | CA1998792066 | ATM | c.3898T= (p.Tyr1300=) c.*3369T= (n.*3369T=) n.245T= n.4048T= c.3733T= (p.Tyr1245=) c.2854T= (p.Tyr952=) c.2590T= (p.Tyr864=) n.4631T= | |
11 | g.108284379A= | CA1998792070 | ATM | c.3899A= (p.Tyr1300=) c.*3370A= (n.*3370A=) n.246A= n.4049A= c.3734A= (p.Tyr1245=) c.2855A= (p.Tyr952=) c.2591A= (p.Tyr864=) n.4632A= | |
11 | g.108284379A>C | CA382525588 | ATM | c.3899A>C (p.Tyr1300Ser) c.*3370A>C (n.*3370A>C) n.246A>C n.4049A>C c.3734A>C (p.Tyr1245Ser) c.2855A>C (p.Tyr952Ser) c.2591A>C (p.Tyr864Ser) n.4632A>C | |
11 | g.108284379A>G | CA298232 | ATM | c.3899A>G (p.Tyr1300Cys) c.*3370A>G (n.*3370A>G) n.246A>G n.4049A>G c.3734A>G (p.Tyr1245Cys) c.2855A>G (p.Tyr952Cys) c.2591A>G (p.Tyr864Cys) n.4632A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.108284379A>T | CA382525590 | ATM | c.3899A>T (p.Tyr1300Phe) c.*3370A>T (n.*3370A>T) n.246A>T n.4049A>T c.3734A>T (p.Tyr1245Phe) c.2855A>T (p.Tyr952Phe) c.2591A>T (p.Tyr864Phe) n.4632A>T | ClinVar dbSNP |
11 | g.108284380T>A | CA382525593 | ATM | c.3900T>A (p.Tyr1300Ter) c.*3371T>A (n.*3371T>A) n.247T>A n.4050T>A c.3735T>A (p.Tyr1245Ter) c.2856T>A (p.Tyr952Ter) c.2592T>A (p.Tyr864Ter) n.4633T>A | dbSNP |
11 | g.108284380T>C | CA476745100 | ATM | c.3900T>C (p.Tyr1300=) c.*3371T>C (n.*3371T>C) n.247T>C n.4050T>C c.3735T>C (p.Tyr1245=) c.2856T>C (p.Tyr952=) c.2592T>C (p.Tyr864=) n.4633T>C | |
11 | g.108284380T>G | CA382525607 | ATM | c.3900T>G (p.Tyr1300Ter) c.*3371T>G (n.*3371T>G) n.247T>G n.4050T>G c.3735T>G (p.Tyr1245Ter) c.2856T>G (p.Tyr952Ter) c.2592T>G (p.Tyr864Ter) n.4633T>G | ClinVar |
11 | g.108284381G>A | CA382525625 | ATM | c.3901G>A (p.Glu1301Lys) c.*3372G>A (n.*3372G>A) n.248G>A n.4051G>A c.3736G>A (p.Glu1246Lys) c.2857G>A (p.Glu953Lys) c.2593G>A (p.Glu865Lys) n.4634G>A | ClinVar dbSNP |
11 | g.108284381G>C | CA382525617 | ATM | c.3901G>C (p.Glu1301Gln) c.*3372G>C (n.*3372G>C) n.248G>C n.4051G>C c.3736G>C (p.Glu1246Gln) c.2857G>C (p.Glu953Gln) c.2593G>C (p.Glu865Gln) n.4634G>C | dbSNP |
11 | g.108284381G>T | CA382525612 | ATM | c.3901G>T (p.Glu1301Ter) c.*3372G>T (n.*3372G>T) n.248G>T n.4051G>T c.3736G>T (p.Glu1246Ter) c.2857G>T (p.Glu953Ter) c.2593G>T (p.Glu865Ter) n.4634G>T | ClinVar COSMIC |
11 | g.108284382_108284385del | CA2725192399 | ATM | c.3902_3905del (p.Glu1301ValfsTer?) c.*3373_*3376del (n.*3373_*3376del) n.249_252del n.4052_4055del c.3737_3740del (p.Glu1246ValfsTer?) c.2858_2861del (p.Glu953ValfsTer?) c.2594_2597del (p.Glu865ValfsTer?) n.4635_4638del | dbSNP |
11 | g.108284382A= | CA1998792075 | ATM | c.3902A= (p.Glu1301=) c.*3373A= (n.*3373A=) n.249A= n.4052A= c.3737A= (p.Glu1246=) c.2858A= (p.Glu953=) c.2594A= (p.Glu865=) n.4635A= | |
11 | g.108284382A>C | CA382525630 | ATM | c.3902A>C (p.Glu1301Ala) c.*3373A>C (n.*3373A>C) n.249A>C n.4052A>C c.3737A>C (p.Glu1246Ala) c.2858A>C (p.Glu953Ala) c.2594A>C (p.Glu865Ala) n.4635A>C | |
11 | g.108284382A>G | CA6265362 | ATM | c.3902A>G (p.Glu1301Gly) c.*3373A>G (n.*3373A>G) n.249A>G n.4052A>G c.3737A>G (p.Glu1246Gly) c.2858A>G (p.Glu953Gly) c.2594A>G (p.Glu865Gly) n.4635A>G | dbSNP ExAC gnomAD v2 |
11 | g.108284382A>T | CA382525644 | ATM | c.3902A>T (p.Glu1301Val) c.*3373A>T (n.*3373A>T) n.249A>T n.4052A>T c.3737A>T (p.Glu1246Val) c.2858A>T (p.Glu953Val) c.2594A>T (p.Glu865Val) n.4635A>T | dbSNP |