| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.108267230_108267236delinsTAATGGA | CA1998783243 | ATM | c.2526_2532delinsTAATGGA (p.Thr842=) c.*1997_*2003delinsTAATGGA (n.*1997_*2003delinsTAATGGA) n.2660_2666delinsTAATGGA n.2676_2682delinsTAATGGA n.2021_2027delinsTAATGGA c.*1461_*1467delinsTAATGGA (n.*1461_*1467delinsTAATGGA) c.2361_2367delinsTAATGGA (p.Thr787=) c.1482_1488delinsTAATGGA (p.Thr494=) c.1218_1224delinsTAATGGA (p.Thr406=) n.3259_3265delinsTAATGGA | |
| 11 | g.108267234_108267239del | CA228406341 | ATM | c.2530_2535del (p.Gly844_Asn845del) c.*2001_*2006del (n.*2001_*2006del) n.2664_2669del n.2680_2685del n.2025_2030del c.*1465_*1470del (n.*1465_*1470del) c.2365_2370del (p.Gly789_Asn790del) c.1486_1491del (p.Gly496_Asn497del) c.1222_1227del (p.Gly408_Asn409del) n.3263_3268del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 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 | ClinVar |
| 11 | g.108267234G>A | CA382543552 | ATM | c.2530G>A (p.Gly844Arg) c.*2001G>A (n.*2001G>A) n.2664G>A n.2680G>A n.2025G>A c.*1465G>A (n.*1465G>A) c.2365G>A (p.Gly789Arg) c.1486G>A (p.Gly496Arg) c.1222G>A (p.Gly408Arg) n.3263G>A | ClinVar dbSNP |
| 11 | g.108267234G>C | CA382543555 | ATM | c.2530G>C (p.Gly844Arg) c.*2001G>C (n.*2001G>C) n.2664G>C n.2680G>C n.2025G>C c.*1465G>C (n.*1465G>C) c.2365G>C (p.Gly789Arg) c.1486G>C (p.Gly496Arg) c.1222G>C (p.Gly408Arg) n.3263G>C | dbSNP |
| 11 | g.108267234G>T | CA382543553 | ATM | c.2530G>T (p.Gly844Ter) c.*2001G>T (n.*2001G>T) n.2664G>T n.2680G>T n.2025G>T c.*1465G>T (n.*1465G>T) c.2365G>T (p.Gly789Ter) c.1486G>T (p.Gly496Ter) c.1222G>T (p.Gly408Ter) n.3263G>T | ClinVar dbSNP |
| 11 | g.108267235del | CA2615853962 | ATM | c.2531del (p.Gly844GlufsTer3) c.*2002del (n.*2002del) n.2665del n.2681del n.2026del c.*1466del (n.*1466del) c.2366del (p.Gly789GlufsTer3) c.1487del (p.Gly496GlufsTer3) c.1223del (p.Gly408GlufsTer3) n.3264del | gnomAD v4 |
| 11 | g.108267235G>A | CA294150 | ATM | c.2531G>A (p.Gly844Glu) c.*2002G>A (n.*2002G>A) n.2665G>A n.2681G>A n.2026G>A c.*1466G>A (n.*1466G>A) c.2366G>A (p.Gly789Glu) c.1487G>A (p.Gly496Glu) c.1223G>A (p.Gly408Glu) n.3264G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108267235G>C | CA6265056 | ATM | c.2531G>C (p.Gly844Ala) c.*2002G>C (n.*2002G>C) n.2665G>C n.2681G>C n.2026G>C c.*1466G>C (n.*1466G>C) c.2366G>C (p.Gly789Ala) c.1487G>C (p.Gly496Ala) c.1223G>C (p.Gly408Ala) n.3264G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108267235G= | CA1998783248 | ATM | c.2531G= (p.Gly844=) c.*2002G= (n.*2002G=) n.2665G= n.2681G= n.2026G= c.*1466G= (n.*1466G=) c.2366G= (p.Gly789=) c.1487G= (p.Gly496=) c.1223G= (p.Gly408=) n.3264G= | |
| 11 | g.108267235G>T | CA382543558 | ATM | c.2531G>T (p.Gly844Val) c.*2002G>T (n.*2002G>T) n.2665G>T n.2681G>T n.2026G>T c.*1466G>T (n.*1466G>T) c.2366G>T (p.Gly789Val) c.1487G>T (p.Gly496Val) c.1223G>T (p.Gly408Val) n.3264G>T | |
| 11 | g.108267235_108267236delinsGA | CA1998783247 | ATM | c.2531_2532delinsGA (p.Gly844=) c.*2002_*2003delinsGA (n.*2002_*2003delinsGA) n.2665_2666delinsGA n.2681_2682delinsGA n.2026_2027delinsGA c.*1466_*1467delinsGA (n.*1466_*1467delinsGA) c.2366_2367delinsGA (p.Gly789=) c.1487_1488delinsGA (p.Gly496=) c.1223_1224delinsGA (p.Gly408=) n.3264_3265delinsGA | |
| 11 | g.108267236A= | CA1998783249 | ATM | c.2532A= (p.Gly844=) c.*2003A= (n.*2003A=) n.2666A= n.2682A= n.2027A= c.*1467A= (n.*1467A=) c.2367A= (p.Gly789=) c.1488A= (p.Gly496=) c.1224A= (p.Gly408=) n.3265A= | |
| 11 | g.108267236A>C | CA476673553 | ATM | c.2532A>C (p.Gly844=) c.*2003A>C (n.*2003A>C) n.2666A>C n.2682A>C n.2027A>C c.*1467A>C (n.*1467A>C) c.2367A>C (p.Gly789=) c.1488A>C (p.Gly496=) c.1224A>C (p.Gly408=) n.3265A>C | ClinVar dbSNP |
| 11 | g.108267236A>G | CA186654 | ATM | c.2532A>G (p.Gly844=) c.*2003A>G (n.*2003A>G) n.2666A>G n.2682A>G n.2027A>G c.*1467A>G (n.*1467A>G) c.2367A>G (p.Gly789=) c.1488A>G (p.Gly496=) c.1224A>G (p.Gly408=) n.3265A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108267236A>T | CA476673554 | ATM | c.2532A>T (p.Gly844=) c.*2003A>T (n.*2003A>T) n.2666A>T n.2682A>T n.2027A>T c.*1467A>T (n.*1467A>T) c.2367A>T (p.Gly789=) c.1488A>T (p.Gly496=) c.1224A>T (p.Gly408=) n.3265A>T | ClinVar |
| 11 | g.108267238del | CA915948366 | ATM | c.2534del (p.Asn845IlefsTer2) c.*2005del (n.*2005del) n.2668del n.2684del n.2029del c.*1469del (n.*1469del) c.2369del (p.Asn790IlefsTer2) c.1490del (p.Asn497IlefsTer2) c.1226del (p.Asn409IlefsTer2) n.3267del | ClinVar dbSNP |
| 11 | g.108267237A= | CA1998783250 | ATM | c.2533A= (p.Asn845=) c.*2004A= (n.*2004A=) n.2667A= n.2683A= n.2028A= c.*1468A= (n.*1468A=) c.2368A= (p.Asn790=) c.1489A= (p.Asn497=) c.1225A= (p.Asn409=) n.3266A= | |
| 11 | g.108267237A>C | CA382543571 | ATM | c.2533A>C (p.Asn845His) c.*2004A>C (n.*2004A>C) n.2667A>C n.2683A>C n.2028A>C c.*1468A>C (n.*1468A>C) c.2368A>C (p.Asn790His) c.1489A>C (p.Asn497His) c.1225A>C (p.Asn409His) n.3266A>C | ClinVar dbSNP gnomAD v4 |
| 11 | g.108267237A>G | CA382543567 | ATM | c.2533A>G (p.Asn845Asp) c.*2004A>G (n.*2004A>G) n.2667A>G n.2683A>G n.2028A>G c.*1468A>G (n.*1468A>G) c.2368A>G (p.Asn790Asp) c.1489A>G (p.Asn497Asp) c.1225A>G (p.Asn409Asp) n.3266A>G | dbSNP |
| 11 | g.108267237A>T | CA382543572 | ATM | c.2533A>T (p.Asn845Tyr) c.*2004A>T (n.*2004A>T) n.2667A>T n.2683A>T n.2028A>T c.*1468A>T (n.*1468A>T) c.2368A>T (p.Asn790Tyr) c.1489A>T (p.Asn497Tyr) c.1225A>T (p.Asn409Tyr) n.3266A>T | dbSNP |
| 11 | g.108267238A= | CA1998783251 | ATM | c.2534A= (p.Asn845=) c.*2005A= (n.*2005A=) n.2668A= n.2684A= n.2029A= c.*1469A= (n.*1469A=) c.2369A= (p.Asn790=) c.1490A= (p.Asn497=) c.1226A= (p.Asn409=) n.3267A= | |
| 11 | g.108267238A>C | CA382543574 | ATM | c.2534A>C (p.Asn845Thr) c.*2005A>C (n.*2005A>C) n.2668A>C n.2684A>C n.2029A>C c.*1469A>C (n.*1469A>C) c.2369A>C (p.Asn790Thr) c.1490A>C (p.Asn497Thr) c.1226A>C (p.Asn409Thr) n.3267A>C | |
| 11 | g.108267238A>G | CA16613104 | ATM | c.2534A>G (p.Asn845Ser) c.*2005A>G (n.*2005A>G) n.2668A>G n.2684A>G n.2029A>G c.*1469A>G (n.*1469A>G) c.2369A>G (p.Asn790Ser) c.1490A>G (p.Asn497Ser) c.1226A>G (p.Asn409Ser) n.3267A>G | ClinVar dbSNP gnomAD v4 |
| 11 | g.108267238A>T | CA382543577 | ATM | c.2534A>T (p.Asn845Ile) c.*2005A>T (n.*2005A>T) n.2668A>T n.2684A>T n.2029A>T c.*1469A>T (n.*1469A>T) c.2369A>T (p.Asn790Ile) c.1490A>T (p.Asn497Ile) c.1226A>T (p.Asn409Ile) n.3267A>T | dbSNP |
| 11 | g.108267239T>A | CA382543581 | ATM | c.2535T>A (p.Asn845Lys) c.*2006T>A (n.*2006T>A) n.2669T>A n.2685T>A n.2030T>A c.*1470T>A (n.*1470T>A) c.2370T>A (p.Asn790Lys) c.1491T>A (p.Asn497Lys) c.1227T>A (p.Asn409Lys) n.3268T>A | dbSNP |
| 11 | g.108267239T>C | CA476673555 | ATM | c.2535T>C (p.Asn845=) c.*2006T>C (n.*2006T>C) n.2669T>C n.2685T>C n.2030T>C c.*1470T>C (n.*1470T>C) c.2370T>C (p.Asn790=) c.1491T>C (p.Asn497=) c.1227T>C (p.Asn409=) n.3268T>C | |
| 11 | g.108267239T>G | CA382543582 | ATM | c.2535T>G (p.Asn845Lys) c.*2006T>G (n.*2006T>G) n.2669T>G n.2685T>G n.2030T>G c.*1470T>G (n.*1470T>G) c.2370T>G (p.Asn790Lys) c.1491T>G (p.Asn497Lys) c.1227T>G (p.Asn409Lys) n.3268T>G | |
| 11 | g.108267240C>A | CA382543584 | ATM | c.2536C>A (p.Leu846Ile) c.*2007C>A (n.*2007C>A) n.2670C>A n.2686C>A n.2031C>A c.*1471C>A (n.*1471C>A) c.2371C>A (p.Leu791Ile) c.1492C>A (p.Leu498Ile) c.1228C>A (p.Leu410Ile) n.3269C>A | dbSNP gnomAD v4 |
| 11 | g.108267240C= | CA1998783252 | ATM | c.2536C= (p.Leu846=) c.*2007C= (n.*2007C=) n.2670C= n.2686C= n.2031C= c.*1471C= (n.*1471C=) c.2371C= (p.Leu791=) c.1492C= (p.Leu498=) c.1228C= (p.Leu410=) n.3269C= | |
| 11 | g.108267240C>G | CA382543586 | ATM | c.2536C>G (p.Leu846Val) c.*2007C>G (n.*2007C>G) n.2670C>G n.2686C>G n.2031C>G c.*1471C>G (n.*1471C>G) c.2371C>G (p.Leu791Val) c.1492C>G (p.Leu498Val) c.1228C>G (p.Leu410Val) n.3269C>G | ClinVar dbSNP gnomAD v4 |
| 11 | g.108267240C>T | CA476673556 | ATM | c.2536C>T (p.Leu846=) c.*2007C>T (n.*2007C>T) n.2670C>T n.2686C>T n.2031C>T c.*1471C>T (n.*1471C>T) c.2371C>T (p.Leu791=) c.1492C>T (p.Leu498=) c.1228C>T (p.Leu410=) n.3269C>T | dbSNP |
| 11 | g.108267241T>A | CA382543588 | ATM | c.2537T>A (p.Leu846Gln) c.*2008T>A (n.*2008T>A) n.2671T>A n.2687T>A n.2032T>A c.*1472T>A (n.*1472T>A) c.2372T>A (p.Leu791Gln) c.1493T>A (p.Leu498Gln) c.1229T>A (p.Leu410Gln) n.3270T>A | |
| 11 | g.108267241T>C | CA382543590 | ATM | c.2537T>C (p.Leu846Pro) c.*2008T>C (n.*2008T>C) n.2671T>C n.2687T>C n.2032T>C c.*1472T>C (n.*1472T>C) c.2372T>C (p.Leu791Pro) c.1493T>C (p.Leu498Pro) c.1229T>C (p.Leu410Pro) n.3270T>C | ClinVar dbSNP |
| 11 | g.108267241T>G | CA382543592 | ATM | c.2537T>G (p.Leu846Arg) c.*2008T>G (n.*2008T>G) n.2671T>G n.2687T>G n.2032T>G c.*1472T>G (n.*1472T>G) c.2372T>G (p.Leu791Arg) c.1493T>G (p.Leu498Arg) c.1229T>G (p.Leu410Arg) n.3270T>G | gnomAD v4 |
| 11 | g.108267242A= | CA1998783253 | ATM | c.2538A= (p.Leu846=) c.*2009A= (n.*2009A=) n.2672A= n.2688A= n.2033A= c.*1473A= (n.*1473A=) c.2373A= (p.Leu791=) c.1494A= (p.Leu498=) c.1230A= (p.Leu410=) n.3271A= | |
| 11 | g.108267242A>C | CA16613025 | ATM | c.2538A>C (p.Leu846=) c.*2009A>C (n.*2009A>C) n.2672A>C n.2688A>C n.2033A>C c.*1473A>C (n.*1473A>C) c.2373A>C (p.Leu791=) c.1494A>C (p.Leu498=) c.1230A>C (p.Leu410=) n.3271A>C | ClinVar dbSNP |
| 11 | g.108267242A>G | CA6265057 | ATM | c.2538A>G (p.Leu846=) c.*2009A>G (n.*2009A>G) n.2672A>G n.2688A>G n.2033A>G c.*1473A>G (n.*1473A>G) c.2373A>G (p.Leu791=) c.1494A>G (p.Leu498=) c.1230A>G (p.Leu410=) n.3271A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108267242A>T | CA476673602 | ATM | c.2538A>T (p.Leu846=) c.*2009A>T (n.*2009A>T) n.2672A>T n.2688A>T n.2033A>T c.*1473A>T (n.*1473A>T) c.2373A>T (p.Leu791=) c.1494A>T (p.Leu498=) c.1230A>T (p.Leu410=) n.3271A>T | |
| 11 | g.108267243_108267247del | CA2580082990 | ATM | c.2539_2543del (p.Met847GlyfsTer11) c.*2010_*2014del (n.*2010_*2014del) n.2673_2677del n.2689_2693del n.2034_2038del c.*1474_*1478del (n.*1474_*1478del) c.2374_2378del (p.Met792GlyfsTer11) c.1495_1499del (p.Met499GlyfsTer11) c.1231_1235del (p.Met411GlyfsTer11) n.3272_3276del | ClinVar |
| 11 | g.108267243A= | CA1998783254 | ATM | c.2539A= (p.Met847=) c.*2010A= (n.*2010A=) n.2673A= n.2689A= n.2034A= c.*1474A= (n.*1474A=) c.2374A= (p.Met792=) c.1495A= (p.Met499=) c.1231A= (p.Met411=) n.3272A= | |
| 11 | g.108267243A>C | CA382543602 | ATM | c.2539A>C (p.Met847Leu) c.*2010A>C (n.*2010A>C) n.2673A>C n.2689A>C n.2034A>C c.*1474A>C (n.*1474A>C) c.2374A>C (p.Met792Leu) c.1495A>C (p.Met499Leu) c.1231A>C (p.Met411Leu) n.3272A>C | |
| 11 | g.108267243A>G | CA286760 | ATM | c.2539A>G (p.Met847Val) c.*2010A>G (n.*2010A>G) n.2673A>G n.2689A>G n.2034A>G c.*1474A>G (n.*1474A>G) c.2374A>G (p.Met792Val) c.1495A>G (p.Met499Val) c.1231A>G (p.Met411Val) n.3272A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.108267243A>T | CA10579059 | ATM | c.2539A>T (p.Met847Leu) c.*2010A>T (n.*2010A>T) n.2673A>T n.2689A>T n.2034A>T c.*1474A>T (n.*1474A>T) c.2374A>T (p.Met792Leu) c.1495A>T (p.Met499Leu) c.1231A>T (p.Met411Leu) n.3272A>T | ClinVar dbSNP |
| 11 | g.108267244T>A | CA382543607 | ATM | c.2540T>A (p.Met847Lys) c.*2011T>A (n.*2011T>A) n.2674T>A n.2690T>A n.2035T>A c.*1475T>A (n.*1475T>A) c.2375T>A (p.Met792Lys) c.1496T>A (p.Met499Lys) c.1232T>A (p.Met411Lys) n.3273T>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.108267244T>C | CA382543630 | ATM | c.2540T>C (p.Met847Thr) c.*2011T>C (n.*2011T>C) n.2674T>C n.2690T>C n.2035T>C c.*1475T>C (n.*1475T>C) c.2375T>C (p.Met792Thr) c.1496T>C (p.Met499Thr) c.1232T>C (p.Met411Thr) n.3273T>C | ClinVar dbSNP |
| 11 | g.108267244T>G | CA382543637 | ATM | c.2540T>G (p.Met847Arg) c.*2011T>G (n.*2011T>G) n.2674T>G n.2690T>G n.2035T>G c.*1475T>G (n.*1475T>G) c.2375T>G (p.Met792Arg) c.1496T>G (p.Met499Arg) c.1232T>G (p.Met411Arg) n.3273T>G | |
| 11 | g.108267244T= | CA1998783255 | ATM | c.2540T= (p.Met847=) c.*2011T= (n.*2011T=) n.2674T= n.2690T= n.2035T= c.*1475T= (n.*1475T=) c.2375T= (p.Met792=) c.1496T= (p.Met499=) c.1232T= (p.Met411=) n.3273T= | |
| 11 | g.108267245G>A | CA349947 | ATM | c.2541G>A (p.Met847Ile) c.*2012G>A (n.*2012G>A) n.2675G>A n.2691G>A n.2036G>A c.*1476G>A (n.*1476G>A) c.2376G>A (p.Met792Ile) c.1497G>A (p.Met499Ile) c.1233G>A (p.Met411Ile) n.3274G>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.108267245G>C | CA382543646 | ATM | c.2541G>C (p.Met847Ile) c.*2012G>C (n.*2012G>C) n.2675G>C n.2691G>C n.2036G>C c.*1476G>C (n.*1476G>C) c.2376G>C (p.Met792Ile) c.1497G>C (p.Met499Ile) c.1233G>C (p.Met411Ile) n.3274G>C | dbSNP |