| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.108272763_108272801del | CA645579299 | ATM | c.3195_3233del (p.Lys1066_Leu1078del) c.*2666_*2704del (n.*2666_*2704del) n.3345_3383del c.3030_3068del (p.Lys1011_Leu1023del) c.2151_2189del (p.Lys718_Leu730del) c.1887_1925del (p.Lys630_Leu642del) n.3928_3966del | COSMIC COSMIC |
| 11 | g.108272797T>A | CA382515922 | ATM | c.3229T>A (p.Phe1077Ile) c.*2700T>A (n.*2700T>A) n.3379T>A c.3064T>A (p.Phe1022Ile) c.2185T>A (p.Phe729Ile) c.1921T>A (p.Phe641Ile) n.3962T>A | dbSNP |
| 11 | g.108272797T>C | CA382515919 | ATM | c.3229T>C (p.Phe1077Leu) c.*2700T>C (n.*2700T>C) n.3379T>C c.3064T>C (p.Phe1022Leu) c.2185T>C (p.Phe729Leu) c.1921T>C (p.Phe641Leu) n.3962T>C | ClinVar dbSNP |
| 11 | g.108272797T>G | CA382515921 | ATM | c.3229T>G (p.Phe1077Val) c.*2700T>G (n.*2700T>G) n.3379T>G c.3064T>G (p.Phe1022Val) c.2185T>G (p.Phe729Val) c.1921T>G (p.Phe641Val) n.3962T>G | ClinVar dbSNP |
| 11 | g.108272797T= | CA1998777282 | ATM | c.3229T= (p.Phe1077=) c.*2700T= (n.*2700T=) n.3379T= c.3064T= (p.Phe1022=) c.2185T= (p.Phe729=) c.1921T= (p.Phe641=) n.3962T= | |
| 11 | g.108272799dup | CA16041398 | ATM | c.3231dup (p.Leu1078SerfsTer3) c.*2702dup (n.*2702dup) n.3381dup c.3066dup (p.Leu1023SerfsTer3) c.2187dup (p.Leu730SerfsTer3) c.1923dup (p.Leu642SerfsTer3) n.3964dup | ClinVar dbSNP |
| 11 | g.108272798T>A | CA382515925 | ATM | c.3230T>A (p.Phe1077Tyr) c.*2701T>A (n.*2701T>A) n.3380T>A c.3065T>A (p.Phe1022Tyr) c.2186T>A (p.Phe729Tyr) c.1922T>A (p.Phe641Tyr) n.3963T>A | |
| 11 | g.108272798T>C | CA382515927 | ATM | c.3230T>C (p.Phe1077Ser) c.*2701T>C (n.*2701T>C) n.3380T>C c.3065T>C (p.Phe1022Ser) c.2186T>C (p.Phe729Ser) c.1922T>C (p.Phe641Ser) n.3963T>C | |
| 11 | g.108272798T>G | CA382515929 | ATM | c.3230T>G (p.Phe1077Cys) c.*2701T>G (n.*2701T>G) n.3380T>G c.3065T>G (p.Phe1022Cys) c.2186T>G (p.Phe729Cys) c.1922T>G (p.Phe641Cys) n.3963T>G | |
| 11 | g.108272799T>A | CA228357942 | ATM | c.3231T>A (p.Phe1077Leu) c.*2702T>A (n.*2702T>A) n.3381T>A c.3066T>A (p.Phe1022Leu) c.2187T>A (p.Phe729Leu) c.1923T>A (p.Phe641Leu) n.3964T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.108272799T>C | CA476745122 | ATM | c.3231T>C (p.Phe1077=) c.*2702T>C (n.*2702T>C) n.3381T>C c.3066T>C (p.Phe1022=) c.2187T>C (p.Phe729=) c.1923T>C (p.Phe641=) n.3964T>C | |
| 11 | g.108272799T>G | CA382515931 | ATM | c.3231T>G (p.Phe1077Leu) c.*2702T>G (n.*2702T>G) n.3381T>G c.3066T>G (p.Phe1022Leu) c.2187T>G (p.Phe729Leu) c.1923T>G (p.Phe641Leu) n.3964T>G | |
| 11 | g.108272799T= | CA1998777283 | ATM | c.3231T= (p.Phe1077=) c.*2702T= (n.*2702T=) n.3381T= c.3066T= (p.Phe1022=) c.2187T= (p.Phe729=) c.1923T= (p.Phe641=) n.3964T= | |
| 11 | g.108272800C>A | CA382515939 | ATM | c.3232C>A (p.Leu1078Ile) c.*2703C>A (n.*2703C>A) n.3382C>A c.3067C>A (p.Leu1023Ile) c.2188C>A (p.Leu730Ile) c.1924C>A (p.Leu642Ile) n.3965C>A | dbSNP |
| 11 | g.108272800C>G | CA382515934 | ATM | c.3232C>G (p.Leu1078Val) c.*2703C>G (n.*2703C>G) n.3382C>G c.3067C>G (p.Leu1023Val) c.2188C>G (p.Leu730Val) c.1924C>G (p.Leu642Val) n.3965C>G | ClinVar dbSNP COSMIC COSMIC |
| 11 | g.108272800C>T | CA382515937 | ATM | c.3232C>T (p.Leu1078Phe) c.*2703C>T (n.*2703C>T) n.3382C>T c.3067C>T (p.Leu1023Phe) c.2188C>T (p.Leu730Phe) c.1924C>T (p.Leu642Phe) n.3965C>T | dbSNP |
| 11 | g.108272801T>A | CA382515943 | ATM | c.3233T>A (p.Leu1078His) c.*2704T>A (n.*2704T>A) n.3383T>A c.3068T>A (p.Leu1023His) c.2189T>A (p.Leu730His) c.1925T>A (p.Leu642His) n.3966T>A | dbSNP |
| 11 | g.108272801T>C | CA382515945 | ATM | c.3233T>C (p.Leu1078Pro) c.*2704T>C (n.*2704T>C) n.3383T>C c.3068T>C (p.Leu1023Pro) c.2189T>C (p.Leu730Pro) c.1925T>C (p.Leu642Pro) n.3966T>C | |
| 11 | g.108272801T>G | CA382515947 | ATM | c.3233T>G (p.Leu1078Arg) c.*2704T>G (n.*2704T>G) n.3383T>G c.3068T>G (p.Leu1023Arg) c.2189T>G (p.Leu730Arg) c.1925T>G (p.Leu642Arg) n.3966T>G | |
| 11 | g.108272802T>A | CA476745123 | ATM | c.3234T>A (p.Leu1078=) c.*2705T>A (n.*2705T>A) n.3384T>A c.3069T>A (p.Leu1023=) c.2190T>A (p.Leu730=) c.1926T>A (p.Leu642=) n.3967T>A | dbSNP |
| 11 | g.108272802T>C | CA476745124 | ATM | c.3234T>C (p.Leu1078=) c.*2705T>C (n.*2705T>C) n.3384T>C c.3069T>C (p.Leu1023=) c.2190T>C (p.Leu730=) c.1926T>C (p.Leu642=) n.3967T>C | dbSNP |
| 11 | g.108272802T>G | CA476745125 | ATM | c.3234T>G (p.Leu1078=) c.*2705T>G (n.*2705T>G) n.3384T>G c.3069T>G (p.Leu1023=) c.2190T>G (p.Leu730=) c.1926T>G (p.Leu642=) n.3967T>G | |
| 11 | g.108272803G>A | CA382515951 | ATM | c.3235G>A (p.Ala1079Thr) c.*2706G>A (n.*2706G>A) n.3385G>A c.3070G>A (p.Ala1024Thr) c.2191G>A (p.Ala731Thr) c.1927G>A (p.Ala643Thr) n.3968G>A | ClinVar dbSNP |
| 11 | g.108272803G>C | CA382515953 | ATM | c.3235G>C (p.Ala1079Pro) c.*2706G>C (n.*2706G>C) n.3385G>C c.3070G>C (p.Ala1024Pro) c.2191G>C (p.Ala731Pro) c.1927G>C (p.Ala643Pro) n.3968G>C | dbSNP |
| 11 | g.108272803G= | CA1998777287 | ATM | c.3235G= (p.Ala1079=) c.*2706G= (n.*2706G=) n.3385G= c.3070G= (p.Ala1024=) c.2191G= (p.Ala731=) c.1927G= (p.Ala643=) n.3968G= | |
| 11 | g.108272803G>T | CA382515956 | ATM | c.3235G>T (p.Ala1079Ser) c.*2706G>T (n.*2706G>T) n.3385G>T c.3070G>T (p.Ala1024Ser) c.2191G>T (p.Ala731Ser) c.1927G>T (p.Ala643Ser) n.3968G>T | dbSNP gnomAD v4 |
| 11 | g.108272803_108272804delinsGC | CA1998777286 | ATM | c.3235_3236delinsGC (p.Ala1079=) c.*2706_*2707delinsGC (n.*2706_*2707delinsGC) n.3385_3386delinsGC c.3070_3071delinsGC (p.Ala1024=) c.2191_2192delinsGC (p.Ala731=) c.1927_1928delinsGC (p.Ala643=) n.3968_3969delinsGC | |
| 11 | g.108272803_108272804delinsTT | CA658656179 | ATM | c.3235_3236delinsTT (p.Ala1079Phe) c.*2706_*2707delinsTT (n.*2706_*2707delinsTT) n.3385_3386delinsTT c.3070_3071delinsTT (p.Ala1024Phe) c.2191_2192delinsTT (p.Ala731Phe) c.1927_1928delinsTT (p.Ala643Phe) n.3968_3969delinsTT | ClinVar dbSNP |
| 11 | g.108272804C>A | CA382515959 | ATM | c.3236C>A (p.Ala1079Asp) c.*2707C>A (n.*2707C>A) n.3386C>A c.3071C>A (p.Ala1024Asp) c.2192C>A (p.Ala731Asp) c.1928C>A (p.Ala643Asp) n.3969C>A | dbSNP |
| 11 | g.108272804C= | CA1998777289 | ATM | c.3236C= (p.Ala1079=) c.*2707C= (n.*2707C=) n.3386C= c.3071C= (p.Ala1024=) c.2192C= (p.Ala731=) c.1928C= (p.Ala643=) n.3969C= | |
| 11 | g.108272804C>G | CA6265229 | ATM | c.3236C>G (p.Ala1079Gly) c.*2707C>G (n.*2707C>G) n.3386C>G c.3071C>G (p.Ala1024Gly) c.2192C>G (p.Ala731Gly) c.1928C>G (p.Ala643Gly) n.3969C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.108272804C>T | CA382515964 | ATM | c.3236C>T (p.Ala1079Val) c.*2707C>T (n.*2707C>T) n.3386C>T c.3071C>T (p.Ala1024Val) c.2192C>T (p.Ala731Val) c.1928C>T (p.Ala643Val) n.3969C>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.108272805T>A | CA476745126 | ATM | c.3237T>A (p.Ala1079=) c.*2708T>A (n.*2708T>A) n.3387T>A c.3072T>A (p.Ala1024=) c.2193T>A (p.Ala731=) c.1929T>A (p.Ala643=) n.3970T>A | dbSNP |
| 11 | g.108272805T>C | CA348230 | ATM | c.3237T>C (p.Ala1079=) c.*2708T>C (n.*2708T>C) n.3387T>C c.3072T>C (p.Ala1024=) c.2193T>C (p.Ala731=) c.1929T>C (p.Ala643=) n.3970T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108272805T>G | CA476745127 | ATM | c.3237T>G (p.Ala1079=) c.*2708T>G (n.*2708T>G) n.3387T>G c.3072T>G (p.Ala1024=) c.2193T>G (p.Ala731=) c.1929T>G (p.Ala643=) n.3970T>G | ClinVar |
| 11 | g.108272805T= | CA1998777291 | ATM | c.3237T= (p.Ala1079=) c.*2708T= (n.*2708T=) n.3387T= c.3072T= (p.Ala1024=) c.2193T= (p.Ala731=) c.1929T= (p.Ala643=) n.3970T= | |
| 11 | g.108272806G>A | CA382515969 | ATM | c.3238G>A (p.Asp1080Asn) c.*2709G>A (n.*2709G>A) n.3388G>A c.3073G>A (p.Asp1025Asn) c.2194G>A (p.Asp732Asn) c.1930G>A (p.Asp644Asn) n.3971G>A | ClinVar dbSNP COSMIC COSMIC |
| 11 | g.108272806G>C | CA382515972 | ATM | c.3238G>C (p.Asp1080His) c.*2709G>C (n.*2709G>C) n.3388G>C c.3073G>C (p.Asp1025His) c.2194G>C (p.Asp732His) c.1930G>C (p.Asp644His) n.3971G>C | dbSNP |
| 11 | g.108272806G>T | CA382515973 | ATM | c.3238G>T (p.Asp1080Tyr) c.*2709G>T (n.*2709G>T) n.3388G>T c.3073G>T (p.Asp1025Tyr) c.2194G>T (p.Asp732Tyr) c.1930G>T (p.Asp644Tyr) n.3971G>T | |
| 11 | g.108272806_108272808del | CA2573146657 | ATM | c.3238_3240del (p.Asp1080del) c.*2709_*2711del (n.*2709_*2711del) n.3388_3390del c.3073_3075del (p.Asp1025del) c.2194_2196del (p.Asp732del) c.1930_1932del (p.Asp644del) n.3971_3973del | ClinVar dbSNP |
| 11 | g.108272807A= | CA1998777294 | ATM | c.3239A= (p.Asp1080=) c.*2710A= (n.*2710A=) n.3389A= c.3074A= (p.Asp1025=) c.2195A= (p.Asp732=) c.1931A= (p.Asp644=) n.3972A= | |
| 11 | g.108272807A>C | CA382515981 | ATM | c.3239A>C (p.Asp1080Ala) c.*2710A>C (n.*2710A>C) n.3389A>C c.3074A>C (p.Asp1025Ala) c.2195A>C (p.Asp732Ala) c.1931A>C (p.Asp644Ala) n.3972A>C | ClinVar dbSNP |
| 11 | g.108272807A>G | CA382515978 | ATM | c.3239A>G (p.Asp1080Gly) c.*2710A>G (n.*2710A>G) n.3389A>G c.3074A>G (p.Asp1025Gly) c.2195A>G (p.Asp732Gly) c.1931A>G (p.Asp644Gly) n.3972A>G | ClinVar dbSNP |
| 11 | g.108272807A>T | CA6265230 | ATM | c.3239A>T (p.Asp1080Val) c.*2710A>T (n.*2710A>T) n.3389A>T c.3074A>T (p.Asp1025Val) c.2195A>T (p.Asp732Val) c.1931A>T (p.Asp644Val) n.3972A>T | ClinVar dbSNP ExAC gnomAD v2 |
| 11 | g.108272807_108272811delinsACAAT | CA1998777293 | ATM | c.3239_3243delinsACAAT (p.Asp1080=) c.*2710_*2714delinsACAAT (n.*2710_*2714delinsACAAT) n.3389_3393delinsACAAT c.3074_3078delinsACAAT (p.Asp1025=) c.2195_2199delinsACAAT (p.Asp732=) c.1931_1935delinsACAAT (p.Asp644=) n.3972_3976delinsACAAT | |
| 11 | g.108272808C>A | CA6265231 | ATM | c.3240C>A (p.Asp1080Glu) c.*2711C>A (n.*2711C>A) n.3390C>A c.3075C>A (p.Asp1025Glu) c.2196C>A (p.Asp732Glu) c.1932C>A (p.Asp644Glu) n.3973C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108272808C= | CA1998777297 | ATM | c.3240C= (p.Asp1080=) c.*2711C= (n.*2711C=) n.3390C= c.3075C= (p.Asp1025=) c.2196C= (p.Asp732=) c.1932C= (p.Asp644=) n.3973C= | |
| 11 | g.108272808C>G | CA382515985 | ATM | c.3240C>G (p.Asp1080Glu) c.*2711C>G (n.*2711C>G) n.3390C>G c.3075C>G (p.Asp1025Glu) c.2196C>G (p.Asp732Glu) c.1932C>G (p.Asp644Glu) n.3973C>G | dbSNP |
| 11 | g.108272808C>T | CA476745128 | ATM | c.3240C>T (p.Asp1080=) c.*2711C>T (n.*2711C>T) n.3390C>T c.3075C>T (p.Asp1025=) c.2196C>T (p.Asp732=) c.1932C>T (p.Asp644=) n.3973C>T | ClinVar gnomAD v4 |
| 11 | g.108272810_108272813del | CA16613033 | ATM | c.3242_3245del (p.Asn1081IlefsTer27) c.*2713_*2716del (n.*2713_*2716del) n.3392_3395del c.3077_3080del (p.Asn1026IlefsTer27) c.2198_2201del (p.Asn733IlefsTer27) c.1934_1937del (p.Asn645IlefsTer27) n.3975_3978del | ClinVar dbSNP |