| 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.108279555_108279590del | CA2573146423 | ATM | c.3349_3384del (p.Gln1117_Gln1128del) c.*2820_*2855del (n.*2820_*2855del) n.3499_3534del c.3184_3219del (p.Gln1062_Gln1073del) c.2305_2340del (p.Gln769_Gln780del) c.2041_2076del (p.Gln681_Gln692del) n.4082_4117del | ClinVar dbSNP |
| 11 | g.108279554_108279558delinsGCAAA | CA1998785862 | ATM | c.3348_3352delinsGCAAA (p.Gln1116=) c.*2819_*2823delinsGCAAA (n.*2819_*2823delinsGCAAA) n.3498_3502delinsGCAAA c.3183_3187delinsGCAAA (p.Gln1061=) c.2304_2308delinsGCAAA (p.Gln768=) c.2040_2044delinsGCAAA (p.Gln680=) n.4081_4085delinsGCAAA | |
| 11 | g.108279555C>A | CA382517645 | ATM | c.3349C>A (p.Gln1117Lys) c.*2820C>A (n.*2820C>A) n.3499C>A c.3184C>A (p.Gln1062Lys) c.2305C>A (p.Gln769Lys) c.2041C>A (p.Gln681Lys) n.4082C>A | |
| 11 | g.108279555C= | CA1998785883 | ATM | c.3349C= (p.Gln1117=) c.*2820C= (n.*2820C=) n.3499C= c.3184C= (p.Gln1062=) c.2305C= (p.Gln769=) c.2041C= (p.Gln681=) n.4082C= | |
| 11 | g.108279555C>G | CA382517647 | ATM | c.3349C>G (p.Gln1117Glu) c.*2820C>G (n.*2820C>G) n.3499C>G c.3184C>G (p.Gln1062Glu) c.2305C>G (p.Gln769Glu) c.2041C>G (p.Gln681Glu) n.4082C>G | |
| 11 | g.108279555C>T | CA191131 | ATM | c.3349C>T (p.Gln1117Ter) c.*2820C>T (n.*2820C>T) n.3499C>T c.3184C>T (p.Gln1062Ter) c.2305C>T (p.Gln769Ter) c.2041C>T (p.Gln681Ter) n.4082C>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.108279555_108279556delinsCA | CA1998785891 | ATM | c.3349_3350delinsCA (p.Gln1117=) c.*2820_*2821delinsCA (n.*2820_*2821delinsCA) n.3499_3500delinsCA c.3184_3185delinsCA (p.Gln1062=) c.2305_2306delinsCA (p.Gln769=) c.2041_2042delinsCA (p.Gln681=) n.4082_4083delinsCA | |
| 11 | g.108279557_108279560del | CA16041400 | ATM | c.3351_3354del (p.Thr1118LeufsTer7) c.*2822_*2825del (n.*2822_*2825del) n.3501_3504del c.3186_3189del (p.Thr1063LeufsTer7) c.2307_2310del (p.Thr770LeufsTer7) c.2043_2046del (p.Thr682LeufsTer7) n.4084_4087del | ClinVar dbSNP gnomAD v4 |
| 11 | g.108279555_108279561delinsCAAACAG | CA1998785888 | ATM | c.3349_3355delinsCAAACAG (p.Gln1117=) c.*2820_*2826delinsCAAACAG (n.*2820_*2826delinsCAAACAG) n.3499_3505delinsCAAACAG c.3184_3190delinsCAAACAG (p.Gln1062=) c.2305_2311delinsCAAACAG (p.Gln769=) c.2041_2047delinsCAAACAG (p.Gln681=) n.4082_4088delinsCAAACAG | |
| 11 | g.108279555_108279561delinsTAAACAT | CA16619160 | ATM | c.3349_3355delinsTAAACAT (p.Gln1117Ter) c.*2820_*2826delinsTAAACAT (n.*2820_*2826delinsTAAACAT) n.3499_3505delinsTAAACAT c.3184_3190delinsTAAACAT (p.Gln1062Ter) c.2305_2311delinsTAAACAT (p.Gln769Ter) c.2041_2047delinsTAAACAT (p.Gln681Ter) n.4082_4088delinsTAAACAT | ClinVar dbSNP |
| 11 | g.108279556A= | CA1998785907 | ATM | c.3350A= (p.Gln1117=) c.*2821A= (n.*2821A=) n.3500A= c.3185A= (p.Gln1062=) c.2306A= (p.Gln769=) c.2042A= (p.Gln681=) n.4083A= | |
| 11 | g.108279556A>C | CA382517651 | ATM | c.3350A>C (p.Gln1117Pro) c.*2821A>C (n.*2821A>C) n.3500A>C c.3185A>C (p.Gln1062Pro) c.2306A>C (p.Gln769Pro) c.2042A>C (p.Gln681Pro) n.4083A>C | dbSNP gnomAD v2 |
| 11 | g.108279556A>G | CA6265266 | ATM | c.3350A>G (p.Gln1117Arg) c.*2821A>G (n.*2821A>G) n.3500A>G c.3185A>G (p.Gln1062Arg) c.2306A>G (p.Gln769Arg) c.2042A>G (p.Gln681Arg) n.4083A>G | ClinVar dbSNP ExAC |
| 11 | g.108279556A>T | CA382517653 | ATM | c.3350A>T (p.Gln1117Leu) c.*2821A>T (n.*2821A>T) n.3500A>T c.3185A>T (p.Gln1062Leu) c.2306A>T (p.Gln769Leu) c.2042A>T (p.Gln681Leu) n.4083A>T | |
| 11 | g.108279558del | CA1139662223 | ATM | c.3352del (p.Thr1118GlnfsTer8) c.*2823del (n.*2823del) n.3502del c.3187del (p.Thr1063GlnfsTer8) c.2308del (p.Thr770GlnfsTer8) c.2044del (p.Thr682GlnfsTer8) n.4085del | ClinVar dbSNP gnomAD v4 |
| 11 | g.108279557A= | CA1998785920 | ATM | c.3351A= (p.Gln1117=) c.*2822A= (n.*2822A=) n.3501A= c.3186A= (p.Gln1062=) c.2307A= (p.Gln769=) c.2043A= (p.Gln681=) n.4084A= | |
| 11 | g.108279557A>C | CA382517656 | ATM | c.3351A>C (p.Gln1117His) c.*2822A>C (n.*2822A>C) n.3501A>C c.3186A>C (p.Gln1062His) c.2307A>C (p.Gln769His) c.2043A>C (p.Gln681His) n.4084A>C | |
| 11 | g.108279557A>G | CA6265267 | ATM | c.3351A>G (p.Gln1117=) c.*2822A>G (n.*2822A>G) n.3501A>G c.3186A>G (p.Gln1062=) c.2307A>G (p.Gln769=) c.2043A>G (p.Gln681=) n.4084A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.108279557A>T | CA382517660 | ATM | c.3351A>T (p.Gln1117His) c.*2822A>T (n.*2822A>T) n.3501A>T c.3186A>T (p.Gln1062His) c.2307A>T (p.Gln769His) c.2043A>T (p.Gln681His) n.4084A>T | dbSNP |
| 11 | g.108279558A= | CA1998785929 | ATM | c.3352A= (p.Thr1118=) c.*2823A= (n.*2823A=) n.3502A= c.3187A= (p.Thr1063=) c.2308A= (p.Thr770=) c.2044A= (p.Thr682=) n.4085A= | |
| 11 | g.108279558A>C | CA382517661 | ATM | c.3352A>C (p.Thr1118Pro) c.*2823A>C (n.*2823A>C) n.3502A>C c.3187A>C (p.Thr1063Pro) c.2308A>C (p.Thr770Pro) c.2044A>C (p.Thr682Pro) n.4085A>C | |
| 11 | g.108279558A>G | CA298222 | ATM | c.3352A>G (p.Thr1118Ala) c.*2823A>G (n.*2823A>G) n.3502A>G c.3187A>G (p.Thr1063Ala) c.2308A>G (p.Thr770Ala) c.2044A>G (p.Thr682Ala) n.4085A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108279558A>T | CA382517662 | ATM | c.3352A>T (p.Thr1118Ser) c.*2823A>T (n.*2823A>T) n.3502A>T c.3187A>T (p.Thr1063Ser) c.2308A>T (p.Thr770Ser) c.2044A>T (p.Thr682Ser) n.4085A>T | dbSNP |
| 11 | g.108279558_108279559insT | CA645579300 | ATM | c.3352_3353insT (p.Thr1118IlefsTer4) c.*2823_*2824insT (n.*2823_*2824insT) n.3502_3503insT c.3187_3188insT (p.Thr1063IlefsTer4) c.2308_2309insT (p.Thr770IlefsTer4) c.2044_2045insT (p.Thr682IlefsTer4) n.4085_4086insT | COSMIC COSMIC |
| 11 | g.108279559C>A | CA382517663 | ATM | c.3353C>A (p.Thr1118Lys) c.*2824C>A (n.*2824C>A) n.3503C>A c.3188C>A (p.Thr1063Lys) c.2309C>A (p.Thr770Lys) c.2045C>A (p.Thr682Lys) n.4086C>A | |
| 11 | g.108279559C= | CA1998785939 | ATM | c.3353C= (p.Thr1118=) c.*2824C= (n.*2824C=) n.3503C= c.3188C= (p.Thr1063=) c.2309C= (p.Thr770=) c.2045C= (p.Thr682=) n.4086C= | |
| 11 | g.108279559C>G | CA382517664 | ATM | c.3353C>G (p.Thr1118Arg) c.*2824C>G (n.*2824C>G) n.3503C>G c.3188C>G (p.Thr1063Arg) c.2309C>G (p.Thr770Arg) c.2045C>G (p.Thr682Arg) n.4086C>G | dbSNP |
| 11 | g.108279559C>T | CA16613034 | ATM | c.3353C>T (p.Thr1118Ile) c.*2824C>T (n.*2824C>T) n.3503C>T c.3188C>T (p.Thr1063Ile) c.2309C>T (p.Thr770Ile) c.2045C>T (p.Thr682Ile) n.4086C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108279560A= | CA1998785962 | ATM | c.3354A= (p.Thr1118=) c.*2825A= (n.*2825A=) n.3504A= c.3189A= (p.Thr1063=) c.2310A= (p.Thr770=) c.2046A= (p.Thr682=) n.4087A= | |
| 11 | g.108279560A>C | CA476672719 | ATM | c.3354A>C (p.Thr1118=) c.*2825A>C (n.*2825A>C) n.3504A>C c.3189A>C (p.Thr1063=) c.2310A>C (p.Thr770=) c.2046A>C (p.Thr682=) n.4087A>C | |
| 11 | g.108279560A>G | CA192263 | ATM | c.3354A>G (p.Thr1118=) c.*2825A>G (n.*2825A>G) n.3504A>G c.3189A>G (p.Thr1063=) c.2310A>G (p.Thr770=) c.2046A>G (p.Thr682=) n.4087A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108279560A>T | CA476672722 | ATM | c.3354A>T (p.Thr1118=) c.*2825A>T (n.*2825A>T) n.3504A>T c.3189A>T (p.Thr1063=) c.2310A>T (p.Thr770=) c.2046A>T (p.Thr682=) n.4087A>T | dbSNP |
| 11 | g.108279564_108279587del | CA2615857191 | ATM | c.3358_3381del (p.Phe1120_Ala1127del) c.*2829_*2852del (n.*2829_*2852del) n.3508_3531del c.3193_3216del (p.Phe1065_Ala1072del) c.2314_2337del (p.Phe772_Ala779del) c.2050_2073del (p.Phe684_Ala691del) n.4091_4114del | gnomAD v4 |
| 11 | g.108279561G>A | CA382517665 | ATM | c.3355G>A (p.Ala1119Thr) c.*2826G>A (n.*2826G>A) n.3505G>A c.3190G>A (p.Ala1064Thr) c.2311G>A (p.Ala771Thr) c.2047G>A (p.Ala683Thr) n.4088G>A | dbSNP |
| 11 | g.108279561G>C | CA382517666 | ATM | c.3355G>C (p.Ala1119Pro) c.*2826G>C (n.*2826G>C) n.3505G>C c.3190G>C (p.Ala1064Pro) c.2311G>C (p.Ala771Pro) c.2047G>C (p.Ala683Pro) n.4088G>C | dbSNP |
| 11 | g.108279561G= | CA1998785980 | ATM | c.3355G= (p.Ala1119=) c.*2826G= (n.*2826G=) n.3505G= c.3190G= (p.Ala1064=) c.2311G= (p.Ala771=) c.2047G= (p.Ala683=) n.4088G= | |
| 11 | g.108279561G>T | CA191128 | ATM | c.3355G>T (p.Ala1119Ser) c.*2826G>T (n.*2826G>T) n.3505G>T c.3190G>T (p.Ala1064Ser) c.2311G>T (p.Ala771Ser) c.2047G>T (p.Ala683Ser) n.4088G>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.108279562C>A | CA10579100 | ATM | c.3356C>A (p.Ala1119Asp) c.*2827C>A (n.*2827C>A) n.3506C>A c.3191C>A (p.Ala1064Asp) c.2312C>A (p.Ala771Asp) c.2048C>A (p.Ala683Asp) n.4089C>A | ClinVar dbSNP |
| 11 | g.108279562C= | CA1998785997 | ATM | c.3356C= (p.Ala1119=) c.*2827C= (n.*2827C=) n.3506C= c.3191C= (p.Ala1064=) c.2312C= (p.Ala771=) c.2048C= (p.Ala683=) n.4089C= | |
| 11 | g.108279562C>G | CA382517667 | ATM | c.3356C>G (p.Ala1119Gly) c.*2827C>G (n.*2827C>G) n.3506C>G c.3191C>G (p.Ala1064Gly) c.2312C>G (p.Ala771Gly) c.2048C>G (p.Ala683Gly) n.4089C>G | dbSNP |
| 11 | g.108279562C>T | CA6265268 | ATM | c.3356C>T (p.Ala1119Val) c.*2827C>T (n.*2827C>T) n.3506C>T c.3191C>T (p.Ala1064Val) c.2312C>T (p.Ala771Val) c.2048C>T (p.Ala683Val) n.4089C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108279562_108279563del | CA2695198969 | ATM | c.3356_3357del (p.Ala1119ValfsTer2) c.*2827_*2828del (n.*2827_*2828del) n.3506_3507del c.3191_3192del (p.Ala1064ValfsTer2) c.2312_2313del (p.Ala771ValfsTer2) c.2048_2049del (p.Ala683ValfsTer2) n.4089_4090del | ClinVar |
| 11 | g.108279563T>A | CA476672724 | ATM | c.3357T>A (p.Ala1119=) c.*2828T>A (n.*2828T>A) n.3507T>A c.3192T>A (p.Ala1064=) c.2313T>A (p.Ala771=) c.2049T>A (p.Ala683=) n.4090T>A | |
| 11 | g.108279563T>C | CA476672726 | ATM | c.3357T>C (p.Ala1119=) c.*2828T>C (n.*2828T>C) n.3507T>C c.3192T>C (p.Ala1064=) c.2313T>C (p.Ala771=) c.2049T>C (p.Ala683=) n.4090T>C | |
| 11 | g.108279563T>G | CA476672725 | ATM | c.3357T>G (p.Ala1119=) c.*2828T>G (n.*2828T>G) n.3507T>G c.3192T>G (p.Ala1064=) c.2313T>G (p.Ala771=) c.2049T>G (p.Ala683=) n.4090T>G | ClinVar dbSNP |
| 11 | g.108279563T= | CA1998786004 | ATM | c.3357T= (p.Ala1119=) c.*2828T= (n.*2828T=) n.3507T= c.3192T= (p.Ala1064=) c.2313T= (p.Ala771=) c.2049T= (p.Ala683=) n.4090T= | |
| 11 | g.108279564T>A | CA382517668 | ATM | c.3358T>A (p.Phe1120Ile) c.*2829T>A (n.*2829T>A) n.3508T>A c.3193T>A (p.Phe1065Ile) c.2314T>A (p.Phe772Ile) c.2050T>A (p.Phe684Ile) n.4091T>A | |
| 11 | g.108279564T>C | CA382517670 | ATM | c.3358T>C (p.Phe1120Leu) c.*2829T>C (n.*2829T>C) n.3508T>C c.3193T>C (p.Phe1065Leu) c.2314T>C (p.Phe772Leu) c.2050T>C (p.Phe684Leu) n.4091T>C | ClinVar |
| 11 | g.108279564T>G | CA382517669 | ATM | c.3358T>G (p.Phe1120Val) c.*2829T>G (n.*2829T>G) n.3508T>G c.3193T>G (p.Phe1065Val) c.2314T>G (p.Phe772Val) c.2050T>G (p.Phe684Val) n.4091T>G |