| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.108267276_108267277insGGATCAGTCATCCATGAATCTATTTAACGAAGTGGAAATCTAATGGAGGTGGAGGATCAGTCATCCATGAATCTAT | CA2739270941 | ATM | c.2572_2573insGGATCAGTCATCCATGAATCTATTTAACGAAGTGGAAATCTAATGGAGGTGGAGGATCAGTCATCCATGAATCTAT (p.Phe858TrpfsTer6) c.*2043_*2044insGGATCAGTCATCCATGAATCTATTTAACGAAGTGGAAATCTAATGGAGGTGGAGGATCAGTCATCCATGAATCTAT (n.*2043_*2044insGGATCAGTCATCCATGAATCTATTTAACGAAGTGGAAATCTAATGGAGGTGGAGGATCAGTCATCCATGAATCTAT) n.2706_2707insGGATCAGTCATCCATGAATCTATTTAACGAAGTGGAAATCTAATGGAGGTGGAGGATCAGTCATCCATGAATCTAT n.2722_2723insGGATCAGTCATCCATGAATCTATTTAACGAAGTGGAAATCTAATGGAGGTGGAGGATCAGTCATCCATGAATCTAT n.2067_2068insGGATCAGTCATCCATGAATCTATTTAACGAAGTGGAAATCTAATGGAGGTGGAGGATCAGTCATCCATGAATCTAT c.*1507_*1508insGGATCAGTCATCCATGAATCTATTTAACGAAGTGGAAATCTAATGGAGGTGGAGGATCAGTCATCCATGAATCTAT (n.*1507_*1508insGGATCAGTCATCCATGAATCTATTTAACGAAGTGGAAATCTAATGGAGGTGGAGGATCAGTCATCCATGAATCTAT) c.2407_2408insGGATCAGTCATCCATGAATCTATTTAACGAAGTGGAAATCTAATGGAGGTGGAGGATCAGTCATCCATGAATCTAT (p.Phe803TrpfsTer6) c.1528_1529insGGATCAGTCATCCATGAATCTATTTAACGAAGTGGAAATCTAATGGAGGTGGAGGATCAGTCATCCATGAATCTAT (p.Phe510TrpfsTer6) c.1264_1265insGGATCAGTCATCCATGAATCTATTTAACGAAGTGGAAATCTAATGGAGGTGGAGGATCAGTCATCCATGAATCTAT (p.Phe422TrpfsTer6) n.3305_3306insGGATCAGTCATCCATGAATCTATTTAACGAAGTGGAAATCTAATGGAGGTGGAGGATCAGTCATCCATGAATCTAT | |
| 11 | g.108267257_108267403del | CA2573146420 | ATM | c.2553_2638+61del c.*2024_*2109+61del n.2687_2772+61del n.2703_2788+61del n.2048_2194del c.*1488_*1573+61del c.2388_2473+61del c.1509_1594+61del c.1245_1330+61del n.3286_3371+61del | ClinVar dbSNP |
| 11 | g.108267273_108267277delinsCTATT | CA1998783283 | ATM | c.2569_2573delinsCTATT (p.Leu857=) c.*2040_*2044delinsCTATT (n.*2040_*2044delinsCTATT) n.2703_2707delinsCTATT n.2719_2723delinsCTATT n.2064_2068delinsCTATT c.*1504_*1508delinsCTATT (n.*1504_*1508delinsCTATT) c.2404_2408delinsCTATT (p.Leu802=) c.1525_1529delinsCTATT (p.Leu509=) c.1261_1265delinsCTATT (p.Leu421=) n.3302_3306delinsCTATT | |
| 11 | g.108267275_108267276del | CA658823319 | ATM | c.2571_2572del (p.Phe858Ter) c.*2042_*2043del (n.*2042_*2043del) n.2705_2706del n.2721_2722del n.2066_2067del c.*1506_*1507del (n.*1506_*1507del) c.2406_2407del (p.Phe803Ter) c.1527_1528del (p.Phe510Ter) c.1263_1264del (p.Phe422Ter) n.3304_3305del | ClinVar dbSNP |
| 11 | g.108267276_108267279del | CA645369498 | ATM | c.2572_2575del (p.Phe858ThrfsTer21) c.*2043_*2046del (n.*2043_*2046del) n.2706_2709del n.2722_2725del n.2067_2070del c.*1507_*1510del (n.*1507_*1510del) c.2407_2410del (p.Phe803ThrfsTer21) c.1528_1531del (p.Phe510ThrfsTer21) c.1264_1267del (p.Phe422ThrfsTer21) n.3305_3308del | ClinVar dbSNP gnomAD v4 |
| 11 | g.108267276T>A | CA382543862 | ATM | c.2572T>A (p.Phe858Ile) c.*2043T>A (n.*2043T>A) n.2706T>A n.2722T>A n.2067T>A c.*1507T>A (n.*1507T>A) c.2407T>A (p.Phe803Ile) c.1528T>A (p.Phe510Ile) c.1264T>A (p.Phe422Ile) n.3305T>A | dbSNP |
| 11 | g.108267276T>C | CA157086 | ATM | c.2572T>C (p.Phe858Leu) c.*2043T>C (n.*2043T>C) n.2706T>C n.2722T>C n.2067T>C c.*1507T>C (n.*1507T>C) c.2407T>C (p.Phe803Leu) c.1528T>C (p.Phe510Leu) c.1264T>C (p.Phe422Leu) n.3305T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.108267276T>G | CA382543865 | ATM | c.2572T>G (p.Phe858Val) c.*2043T>G (n.*2043T>G) n.2706T>G n.2722T>G n.2067T>G c.*1507T>G (n.*1507T>G) c.2407T>G (p.Phe803Val) c.1528T>G (p.Phe510Val) c.1264T>G (p.Phe422Val) n.3305T>G | |
| 11 | g.108267276T= | CA1998783286 | ATM | c.2572T= (p.Phe858=) c.*2043T= (n.*2043T=) n.2706T= n.2722T= n.2067T= c.*1507T= (n.*1507T=) c.2407T= (p.Phe803=) c.1528T= (p.Phe510=) c.1264T= (p.Phe422=) n.3305T= | |
| 11 | g.108267276_108267278delinsA | CA2580083022 | ATM | c.2572_2574delinsA (p.Phe858LysfsTer5) c.*2043_*2045delinsA (n.*2043_*2045delinsA) n.2706_2708delinsA n.2722_2724delinsA n.2067_2069delinsA c.*1507_*1509delinsA (n.*1507_*1509delinsA) c.2407_2409delinsA (p.Phe803LysfsTer5) c.1528_1530delinsA (p.Phe510LysfsTer5) c.1264_1266delinsA (p.Phe422LysfsTer5) n.3305_3307delinsA | ClinVar |
| 11 | g.108267278dup | CA157082 | ATM | c.2574dup (p.Asn859Ter) c.*2045dup (n.*2045dup) n.2708dup n.2724dup n.2069dup c.*1509dup (n.*1509dup) c.2409dup (p.Asn804Ter) c.1530dup (p.Asn511Ter) c.1266dup (p.Asn423Ter) n.3307dup | ClinVar dbSNP gnomAD v4 |
| 11 | g.108267277T>A | CA382543875 | ATM | c.2573T>A (p.Phe858Tyr) c.*2044T>A (n.*2044T>A) n.2707T>A n.2723T>A n.2068T>A c.*1508T>A (n.*1508T>A) c.2408T>A (p.Phe803Tyr) c.1529T>A (p.Phe510Tyr) c.1265T>A (p.Phe422Tyr) n.3306T>A | dbSNP |
| 11 | g.108267277T>C | CA382543868 | ATM | c.2573T>C (p.Phe858Ser) c.*2044T>C (n.*2044T>C) n.2707T>C n.2723T>C n.2068T>C c.*1508T>C (n.*1508T>C) c.2408T>C (p.Phe803Ser) c.1529T>C (p.Phe510Ser) c.1265T>C (p.Phe422Ser) n.3306T>C | dbSNP gnomAD v4 COSMIC COSMIC |
| 11 | g.108267277T>G | CA382543873 | ATM | c.2573T>G (p.Phe858Cys) c.*2044T>G (n.*2044T>G) n.2707T>G n.2723T>G n.2068T>G c.*1508T>G (n.*1508T>G) c.2408T>G (p.Phe803Cys) c.1529T>G (p.Phe510Cys) c.1265T>G (p.Phe422Cys) n.3306T>G | |
| 11 | g.108267278T>A | CA382543878 | ATM | c.2574T>A (p.Phe858Leu) c.*2045T>A (n.*2045T>A) n.2708T>A n.2724T>A n.2069T>A c.*1509T>A (n.*1509T>A) c.2409T>A (p.Phe803Leu) c.1530T>A (p.Phe510Leu) c.1266T>A (p.Phe422Leu) n.3307T>A | |
| 11 | g.108267278T>C | CA476673636 | ATM | c.2574T>C (p.Phe858=) c.*2045T>C (n.*2045T>C) n.2708T>C n.2724T>C n.2069T>C c.*1509T>C (n.*1509T>C) c.2409T>C (p.Phe803=) c.1530T>C (p.Phe510=) c.1266T>C (p.Phe422=) n.3307T>C | |
| 11 | g.108267278T>G | CA382543881 | ATM | c.2574T>G (p.Phe858Leu) c.*2045T>G (n.*2045T>G) n.2708T>G n.2724T>G n.2069T>G c.*1509T>G (n.*1509T>G) c.2409T>G (p.Phe803Leu) c.1530T>G (p.Phe510Leu) c.1266T>G (p.Phe422Leu) n.3307T>G | ClinVar dbSNP |
| 11 | g.108267278T= | CA1998783287 | ATM | c.2574T= (p.Phe858=) c.*2045T= (n.*2045T=) n.2708T= n.2724T= n.2069T= c.*1509T= (n.*1509T=) c.2409T= (p.Phe803=) c.1530T= (p.Phe510=) c.1266T= (p.Phe422=) n.3307T= | |
| 11 | g.108267278_108267279insCTCCACGGTC | CA2725134450 | ATM | c.2574_2575insCTCCACGGTC (p.Asn859LeufsTer8) c.*2045_*2046insCTCCACGGTC (n.*2045_*2046insCTCCACGGTC) n.2708_2709insCTCCACGGTC n.2724_2725insCTCCACGGTC n.2069_2070insCTCCACGGTC c.*1509_*1510insCTCCACGGTC (n.*1509_*1510insCTCCACGGTC) c.2409_2410insCTCCACGGTC (p.Asn804LeufsTer8) c.1530_1531insCTCCACGGTC (p.Asn511LeufsTer8) c.1266_1267insCTCCACGGTC (p.Asn423LeufsTer8) n.3307_3308insCTCCACGGTC | dbSNP |
| 11 | g.108267279A>C | CA382543884 | ATM | c.2575A>C (p.Asn859His) c.*2046A>C (n.*2046A>C) n.2709A>C n.2725A>C n.2070A>C c.*1510A>C (n.*1510A>C) c.2410A>C (p.Asn804His) c.1531A>C (p.Asn511His) c.1267A>C (p.Asn423His) n.3308A>C | |
| 11 | g.108267279A>G | CA382543887 | ATM | c.2575A>G (p.Asn859Asp) c.*2046A>G (n.*2046A>G) n.2709A>G n.2725A>G n.2070A>G c.*1510A>G (n.*1510A>G) c.2410A>G (p.Asn804Asp) c.1531A>G (p.Asn511Asp) c.1267A>G (p.Asn423Asp) n.3308A>G | ClinVar dbSNP |
| 11 | g.108267279A>T | CA382543889 | ATM | c.2575A>T (p.Asn859Tyr) c.*2046A>T (n.*2046A>T) n.2709A>T n.2725A>T n.2070A>T c.*1510A>T (n.*1510A>T) c.2410A>T (p.Asn804Tyr) c.1531A>T (p.Asn511Tyr) c.1267A>T (p.Asn423Tyr) n.3308A>T | dbSNP |
| 11 | g.108267280A= | CA1998783288 | ATM | c.2576A= (p.Asn859=) c.*2047A= (n.*2047A=) n.2710A= n.2726A= n.2071A= c.*1511A= (n.*1511A=) c.2411A= (p.Asn804=) c.1532A= (p.Asn511=) c.1268A= (p.Asn423=) n.3309A= | |
| 11 | g.108267280A>C | CA382543892 | ATM | c.2576A>C (p.Asn859Thr) c.*2047A>C (n.*2047A>C) n.2710A>C n.2726A>C n.2071A>C c.*1511A>C (n.*1511A>C) c.2411A>C (p.Asn804Thr) c.1532A>C (p.Asn511Thr) c.1268A>C (p.Asn423Thr) n.3309A>C | dbSNP |
| 11 | g.108267280A>G | CA382543900 | ATM | c.2576A>G (p.Asn859Ser) c.*2047A>G (n.*2047A>G) n.2710A>G n.2726A>G n.2071A>G c.*1511A>G (n.*1511A>G) c.2411A>G (p.Asn804Ser) c.1532A>G (p.Asn511Ser) c.1268A>G (p.Asn423Ser) n.3309A>G | ClinVar dbSNP |
| 11 | g.108267280A>T | CA382543893 | ATM | c.2576A>T (p.Asn859Ile) c.*2047A>T (n.*2047A>T) n.2710A>T n.2726A>T n.2071A>T c.*1511A>T (n.*1511A>T) c.2411A>T (p.Asn804Ile) c.1532A>T (p.Asn511Ile) c.1268A>T (p.Asn423Ile) n.3309A>T | dbSNP COSMIC |
| 11 | g.108267281C>A | CA382543903 | ATM | c.2577C>A (p.Asn859Lys) c.*2048C>A (n.*2048C>A) n.2711C>A n.2727C>A n.2072C>A c.*1512C>A (n.*1512C>A) c.2412C>A (p.Asn804Lys) c.1533C>A (p.Asn511Lys) c.1269C>A (p.Asn423Lys) n.3310C>A | dbSNP |
| 11 | g.108267281C= | CA1998783289 | ATM | c.2577C= (p.Asn859=) c.*2048C= (n.*2048C=) n.2711C= n.2727C= n.2072C= c.*1512C= (n.*1512C=) c.2412C= (p.Asn804=) c.1533C= (p.Asn511=) c.1269C= (p.Asn423=) n.3310C= | |
| 11 | g.108267281C>G | CA382543906 | ATM | c.2577C>G (p.Asn859Lys) c.*2048C>G (n.*2048C>G) n.2711C>G n.2727C>G n.2072C>G c.*1512C>G (n.*1512C>G) c.2412C>G (p.Asn804Lys) c.1533C>G (p.Asn511Lys) c.1269C>G (p.Asn423Lys) n.3310C>G | dbSNP gnomAD v4 |
| 11 | g.108267281C>T | CA297993 | ATM | c.2577C>T (p.Asn859=) c.*2048C>T (n.*2048C>T) n.2711C>T n.2727C>T n.2072C>T c.*1512C>T (n.*1512C>T) c.2412C>T (p.Asn804=) c.1533C>T (p.Asn511=) c.1269C>T (p.Asn423=) n.3310C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108267282G>A | CA286766 | ATM | c.2578G>A (p.Asp860Asn) c.*2049G>A (n.*2049G>A) n.2712G>A n.2728G>A n.2073G>A c.*1513G>A (n.*1513G>A) c.2413G>A (p.Asp805Asn) c.1534G>A (p.Asp512Asn) c.1270G>A (p.Asp424Asn) n.3311G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108267282G>C | CA382543918 | ATM | c.2578G>C (p.Asp860His) c.*2049G>C (n.*2049G>C) n.2712G>C n.2728G>C n.2073G>C c.*1513G>C (n.*1513G>C) c.2413G>C (p.Asp805His) c.1534G>C (p.Asp512His) c.1270G>C (p.Asp424His) n.3311G>C | ClinVar dbSNP |
| 11 | g.108267282G= | CA1998783290 | ATM | c.2578G= (p.Asp860=) c.*2049G= (n.*2049G=) n.2712G= n.2728G= n.2073G= c.*1513G= (n.*1513G=) c.2413G= (p.Asp805=) c.1534G= (p.Asp512=) c.1270G= (p.Asp424=) n.3311G= | |
| 11 | g.108267282G>T | CA382543921 | ATM | c.2578G>T (p.Asp860Tyr) c.*2049G>T (n.*2049G>T) n.2712G>T n.2728G>T n.2073G>T c.*1513G>T (n.*1513G>T) c.2413G>T (p.Asp805Tyr) c.1534G>T (p.Asp512Tyr) c.1270G>T (p.Asp424Tyr) n.3311G>T | |
| 11 | g.108267283del | CA2580083033 | ATM | c.2579del (p.Asp860ValfsTer20) c.*2050del (n.*2050del) n.2713del n.2729del n.2074del c.*1514del (n.*1514del) c.2414del (p.Asp805ValfsTer20) c.1535del (p.Asp512ValfsTer20) c.1271del (p.Asp424ValfsTer20) n.3312del | ClinVar |
| 11 | g.108267283A= | CA1998783291 | ATM | c.2579A= (p.Asp860=) c.*2050A= (n.*2050A=) n.2713A= n.2729A= n.2074A= c.*1514A= (n.*1514A=) c.2414A= (p.Asp805=) c.1535A= (p.Asp512=) c.1271A= (p.Asp424=) n.3312A= | |
| 11 | g.108267283A>C | CA382543931 | ATM | c.2579A>C (p.Asp860Ala) c.*2050A>C (n.*2050A>C) n.2713A>C n.2729A>C n.2074A>C c.*1514A>C (n.*1514A>C) c.2414A>C (p.Asp805Ala) c.1535A>C (p.Asp512Ala) c.1271A>C (p.Asp424Ala) n.3312A>C | |
| 11 | g.108267283A>G | CA228406449 | ATM | c.2579A>G (p.Asp860Gly) c.*2050A>G (n.*2050A>G) n.2713A>G n.2729A>G n.2074A>G c.*1514A>G (n.*1514A>G) c.2414A>G (p.Asp805Gly) c.1535A>G (p.Asp512Gly) c.1271A>G (p.Asp424Gly) n.3312A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.108267283A>T | CA6265063 | ATM | c.2579A>T (p.Asp860Val) c.*2050A>T (n.*2050A>T) n.2713A>T n.2729A>T n.2074A>T c.*1514A>T (n.*1514A>T) c.2414A>T (p.Asp805Val) c.1535A>T (p.Asp512Val) c.1271A>T (p.Asp424Val) n.3312A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.108267284T>A | CA382543939 | ATM | c.2580T>A (p.Asp860Glu) c.*2051T>A (n.*2051T>A) n.2714T>A n.2730T>A n.2075T>A c.*1515T>A (n.*1515T>A) c.2415T>A (p.Asp805Glu) c.1536T>A (p.Asp512Glu) c.1272T>A (p.Asp424Glu) n.3313T>A | ClinVar dbSNP |
| 11 | g.108267284T>C | CA476673637 | ATM | c.2580T>C (p.Asp860=) c.*2051T>C (n.*2051T>C) n.2714T>C n.2730T>C n.2075T>C c.*1515T>C (n.*1515T>C) c.2415T>C (p.Asp805=) c.1536T>C (p.Asp512=) c.1272T>C (p.Asp424=) n.3313T>C | |
| 11 | g.108267284T>G | CA382543941 | ATM | c.2580T>G (p.Asp860Glu) c.*2051T>G (n.*2051T>G) n.2714T>G n.2730T>G n.2075T>G c.*1515T>G (n.*1515T>G) c.2415T>G (p.Asp805Glu) c.1536T>G (p.Asp512Glu) c.1272T>G (p.Asp424Glu) n.3313T>G | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.108267284T= | CA1998783292 | ATM | c.2580T= (p.Asp860=) c.*2051T= (n.*2051T=) n.2714T= n.2730T= n.2075T= c.*1515T= (n.*1515T=) c.2415T= (p.Asp805=) c.1536T= (p.Asp512=) c.1272T= (p.Asp424=) n.3313T= | |
| 11 | g.108267285T>A | CA382543952 | ATM | c.2581T>A (p.Tyr861Asn) c.*2052T>A (n.*2052T>A) n.2715T>A n.2731T>A n.2076T>A c.*1516T>A (n.*1516T>A) c.2416T>A (p.Tyr806Asn) c.1537T>A (p.Tyr513Asn) c.1273T>A (p.Tyr425Asn) n.3314T>A | ClinVar dbSNP |
| 11 | g.108267285T>C | CA382543948 | ATM | c.2581T>C (p.Tyr861His) c.*2052T>C (n.*2052T>C) n.2715T>C n.2731T>C n.2076T>C c.*1516T>C (n.*1516T>C) c.2416T>C (p.Tyr806His) c.1537T>C (p.Tyr513His) c.1273T>C (p.Tyr425His) n.3314T>C | ClinVar dbSNP |
| 11 | g.108267285T>G | CA382543945 | ATM | c.2581T>G (p.Tyr861Asp) c.*2052T>G (n.*2052T>G) n.2715T>G n.2731T>G n.2076T>G c.*1516T>G (n.*1516T>G) c.2416T>G (p.Tyr806Asp) c.1537T>G (p.Tyr513Asp) c.1273T>G (p.Tyr425Asp) n.3314T>G | |
| 11 | g.108267285T= | CA1998783293 | ATM | c.2581T= (p.Tyr861=) c.*2052T= (n.*2052T=) n.2715T= n.2731T= n.2076T= c.*1516T= (n.*1516T=) c.2416T= (p.Tyr806=) c.1537T= (p.Tyr513=) c.1273T= (p.Tyr425=) n.3314T= | |
| 11 | g.108267286A= | CA1998783294 | ATM | c.2582A= (p.Tyr861=) c.*2053A= (n.*2053A=) n.2716A= n.2732A= n.2077A= c.*1517A= (n.*1517A=) c.2417A= (p.Tyr806=) c.1538A= (p.Tyr513=) c.1274A= (p.Tyr425=) n.3315A= | |
| 11 | g.108267286A>C | CA382543957 | ATM | c.2582A>C (p.Tyr861Ser) c.*2053A>C (n.*2053A>C) n.2716A>C n.2732A>C n.2077A>C c.*1517A>C (n.*1517A>C) c.2417A>C (p.Tyr806Ser) c.1538A>C (p.Tyr513Ser) c.1274A>C (p.Tyr425Ser) n.3315A>C | |
| 11 | g.108267286A>G | CA382543958 | ATM | c.2582A>G (p.Tyr861Cys) c.*2053A>G (n.*2053A>G) n.2716A>G n.2732A>G n.2077A>G c.*1517A>G (n.*1517A>G) c.2417A>G (p.Tyr806Cys) c.1538A>G (p.Tyr513Cys) c.1274A>G (p.Tyr425Cys) n.3315A>G | ClinVar dbSNP |