| 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.108284347_108284364delinsGATTCTTGTAAATATTCT | CA1998791942 | ATM | c.3867_3884delinsGATTCTTGTAAATATTCT (p.Lys1289=) c.*3338_*3355delinsGATTCTTGTAAATATTCT (n.*3338_*3355delinsGATTCTTGTAAATATTCT) n.214_231delinsGATTCTTGTAAATATTCT n.4017_4034delinsGATTCTTGTAAATATTCT c.3702_3719delinsGATTCTTGTAAATATTCT (p.Lys1234=) c.2823_2840delinsGATTCTTGTAAATATTCT (p.Lys941=) c.2559_2576delinsGATTCTTGTAAATATTCT (p.Lys853=) n.4600_4617delinsGATTCTTGTAAATATTCT | |
| 11 | g.108284348_108284364del | CA916079968 | ATM | c.3868_3884del (p.Ile1290SerfsTer6) c.*3339_*3355del (n.*3339_*3355del) n.215_231del n.4018_4034del c.3703_3719del (p.Ile1235SerfsTer6) c.2824_2840del (p.Ile942SerfsTer6) c.2560_2576del (p.Ile854SerfsTer6) n.4601_4617del | ClinVar dbSNP |
| 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.108284360A= | CA1998792001 | ATM | c.3880A= (p.Ile1294=) c.*3351A= (n.*3351A=) n.227A= n.4030A= c.3715A= (p.Ile1239=) c.2836A= (p.Ile946=) c.2572A= (p.Ile858=) n.4613A= | |
| 11 | g.108284360A>C | CA382525419 | ATM | c.3880A>C (p.Ile1294Leu) c.*3351A>C (n.*3351A>C) n.227A>C n.4030A>C c.3715A>C (p.Ile1239Leu) c.2836A>C (p.Ile946Leu) c.2572A>C (p.Ile858Leu) n.4613A>C | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.108284360A>G | CA382525422 | ATM | c.3880A>G (p.Ile1294Val) c.*3351A>G (n.*3351A>G) n.227A>G n.4030A>G c.3715A>G (p.Ile1239Val) c.2836A>G (p.Ile946Val) c.2572A>G (p.Ile858Val) n.4613A>G | ClinVar dbSNP |
| 11 | g.108284360A>T | CA382525430 | ATM | c.3880A>T (p.Ile1294Phe) c.*3351A>T (n.*3351A>T) n.227A>T n.4030A>T c.3715A>T (p.Ile1239Phe) c.2836A>T (p.Ile946Phe) c.2572A>T (p.Ile858Phe) n.4613A>T | ClinVar dbSNP |
| 11 | g.108284360dup | CA16041405 | ATM | c.3880dup (p.Ile1294AsnfsTer8) c.*3351dup (n.*3351dup) n.227dup n.4030dup c.3715dup (p.Ile1239AsnfsTer8) c.2836dup (p.Ile946AsnfsTer8) c.2572dup (p.Ile858AsnfsTer8) n.4613dup | ClinVar dbSNP gnomAD v4 |
| 11 | g.108284361T>A | CA382525436 | ATM | c.3881T>A (p.Ile1294Asn) c.*3352T>A (n.*3352T>A) n.228T>A n.4031T>A c.3716T>A (p.Ile1239Asn) c.2837T>A (p.Ile946Asn) c.2573T>A (p.Ile858Asn) n.4614T>A | |
| 11 | g.108284361T>C | CA382525441 | ATM | c.3881T>C (p.Ile1294Thr) c.*3352T>C (n.*3352T>C) n.228T>C n.4031T>C c.3716T>C (p.Ile1239Thr) c.2837T>C (p.Ile946Thr) c.2573T>C (p.Ile858Thr) n.4614T>C | dbSNP |
| 11 | g.108284361T>G | CA382525445 | ATM | c.3881T>G (p.Ile1294Ser) c.*3352T>G (n.*3352T>G) n.228T>G n.4031T>G c.3716T>G (p.Ile1239Ser) c.2837T>G (p.Ile946Ser) c.2573T>G (p.Ile858Ser) n.4614T>G | |
| 11 | g.108284362del | CA645579305 | ATM | c.3882del (p.Leu1295PhefsTer?) c.*3353del (n.*3353del) n.229del n.4032del c.3717del (p.Leu1240PhefsTer?) c.2838del (p.Leu947PhefsTer?) c.2574del (p.Leu859PhefsTer?) n.4615del | COSMIC COSMIC |
| 11 | g.108284364_108284366del | CA645579306 | ATM | c.3884_3886del (p.Leu1295del) c.*3355_*3357del (n.*3355_*3357del) n.231_233del n.4034_4036del c.3719_3721del (p.Leu1240del) c.2840_2842del (p.Leu947del) c.2576_2578del (p.Leu859del) n.4617_4619del | COSMIC |
| 11 | g.108284362T>A | CA476745077 | ATM | c.3882T>A (p.Ile1294=) c.*3353T>A (n.*3353T>A) n.229T>A n.4032T>A c.3717T>A (p.Ile1239=) c.2838T>A (p.Ile946=) c.2574T>A (p.Ile858=) n.4615T>A | |
| 11 | g.108284362T>C | CA476745078 | ATM | c.3882T>C (p.Ile1294=) c.*3353T>C (n.*3353T>C) n.229T>C n.4032T>C c.3717T>C (p.Ile1239=) c.2838T>C (p.Ile946=) c.2574T>C (p.Ile858=) n.4615T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.108284362T>G | CA382525447 | ATM | c.3882T>G (p.Ile1294Met) c.*3353T>G (n.*3353T>G) n.229T>G n.4032T>G c.3717T>G (p.Ile1239Met) c.2838T>G (p.Ile946Met) c.2574T>G (p.Ile858Met) n.4615T>G | |
| 11 | g.108284362T= | CA1998792005 | ATM | c.3882T= (p.Ile1294=) c.*3353T= (n.*3353T=) n.229T= n.4032T= c.3717T= (p.Ile1239=) c.2838T= (p.Ile946=) c.2574T= (p.Ile858=) n.4615T= | |
| 11 | g.108284363C>A | CA382525448 | ATM | c.3883C>A (p.Leu1295Ile) c.*3354C>A (n.*3354C>A) n.230C>A n.4033C>A c.3718C>A (p.Leu1240Ile) c.2839C>A (p.Leu947Ile) c.2575C>A (p.Leu859Ile) n.4616C>A | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.108284363C= | CA1998792008 | ATM | c.3883C= (p.Leu1295=) c.*3354C= (n.*3354C=) n.230C= n.4033C= c.3718C= (p.Leu1240=) c.2839C= (p.Leu947=) c.2575C= (p.Leu859=) n.4616C= | |
| 11 | g.108284363C>G | CA382525449 | ATM | c.3883C>G (p.Leu1295Val) c.*3354C>G (n.*3354C>G) n.230C>G n.4033C>G c.3718C>G (p.Leu1240Val) c.2839C>G (p.Leu947Val) c.2575C>G (p.Leu859Val) n.4616C>G | ClinVar dbSNP |
| 11 | g.108284363C>T | CA382525451 | ATM | c.3883C>T (p.Leu1295Phe) c.*3354C>T (n.*3354C>T) n.230C>T n.4033C>T c.3718C>T (p.Leu1240Phe) c.2839C>T (p.Leu947Phe) c.2575C>T (p.Leu859Phe) n.4616C>T | dbSNP gnomAD v4 |
| 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.108284364T>A | CA382525455 | ATM | c.3884T>A (p.Leu1295His) c.*3355T>A (n.*3355T>A) n.231T>A n.4034T>A c.3719T>A (p.Leu1240His) c.2840T>A (p.Leu947His) c.2576T>A (p.Leu859His) n.4617T>A | dbSNP |
| 11 | g.108284364T>C | CA382525457 | ATM | c.3884T>C (p.Leu1295Pro) c.*3355T>C (n.*3355T>C) n.231T>C n.4034T>C c.3719T>C (p.Leu1240Pro) c.2840T>C (p.Leu947Pro) c.2576T>C (p.Leu859Pro) n.4617T>C | ClinVar dbSNP |
| 11 | g.108284364T>G | CA382525459 | ATM | c.3884T>G (p.Leu1295Arg) c.*3355T>G (n.*3355T>G) n.231T>G n.4034T>G c.3719T>G (p.Leu1240Arg) c.2840T>G (p.Leu947Arg) c.2576T>G (p.Leu859Arg) n.4617T>G | |
| 11 | g.108284364T= | CA1998792010 | ATM | c.3884T= (p.Leu1295=) c.*3355T= (n.*3355T=) n.231T= n.4034T= c.3719T= (p.Leu1240=) c.2840T= (p.Leu947=) c.2576T= (p.Leu859=) n.4617T= | |
| 11 | g.108284365T>A | CA476745082 | ATM | c.3885T>A (p.Leu1295=) c.*3356T>A (n.*3356T>A) n.232T>A n.4035T>A c.3720T>A (p.Leu1240=) c.2841T>A (p.Leu947=) c.2577T>A (p.Leu859=) n.4618T>A | dbSNP |
| 11 | g.108284365T>C | CA476745083 | ATM | c.3885T>C (p.Leu1295=) c.*3356T>C (n.*3356T>C) n.232T>C n.4035T>C c.3720T>C (p.Leu1240=) c.2841T>C (p.Leu947=) c.2577T>C (p.Leu859=) n.4618T>C | |
| 11 | g.108284365T>G | CA476745084 | ATM | c.3885T>G (p.Leu1295=) c.*3356T>G (n.*3356T>G) n.232T>G n.4035T>G c.3720T>G (p.Leu1240=) c.2841T>G (p.Leu947=) c.2577T>G (p.Leu859=) n.4618T>G | |
| 11 | g.108284366C>A | CA382525462 | ATM | c.3886C>A (p.Pro1296Thr) c.*3357C>A (n.*3357C>A) n.233C>A n.4036C>A c.3721C>A (p.Pro1241Thr) c.2842C>A (p.Pro948Thr) c.2578C>A (p.Pro860Thr) n.4619C>A | dbSNP |
| 11 | g.108284366C= | CA1998792027 | ATM | c.3886C= (p.Pro1296=) c.*3357C= (n.*3357C=) n.233C= n.4036C= c.3721C= (p.Pro1241=) c.2842C= (p.Pro948=) c.2578C= (p.Pro860=) n.4619C= | |
| 11 | g.108284366C>G | CA382525466 | ATM | c.3886C>G (p.Pro1296Ala) c.*3357C>G (n.*3357C>G) n.233C>G n.4036C>G c.3721C>G (p.Pro1241Ala) c.2842C>G (p.Pro948Ala) c.2578C>G (p.Pro860Ala) n.4619C>G | ClinVar dbSNP |
| 11 | g.108284366C>T | CA350768 | ATM | c.3886C>T (p.Pro1296Ser) c.*3357C>T (n.*3357C>T) n.233C>T n.4036C>T c.3721C>T (p.Pro1241Ser) c.2842C>T (p.Pro948Ser) c.2578C>T (p.Pro860Ser) n.4619C>T | ClinVar dbSNP COSMIC COSMIC |
| 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 | ClinVar 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= |