| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.108268446A= | CA1998783989 | ATM | c.2675A= (p.Lys892=) c.*2146A= (n.*2146A=) n.2772+1104A= n.2825A= c.*1573+1104A= (n.*1573+1104A=) c.2510A= (p.Lys837=) n.37A= c.1631A= (p.Lys544=) c.1367A= (p.Lys456=) n.3408A= | |
| 11 | g.108268446A>C | CA382545118 | ATM | c.2675A>C (p.Lys892Thr) c.*2146A>C (n.*2146A>C) n.2772+1104A>C n.2825A>C c.*1573+1104A>C (n.*1573+1104A>C) c.2510A>C (p.Lys837Thr) n.37A>C c.1631A>C (p.Lys544Thr) c.1367A>C (p.Lys456Thr) n.3408A>C | ClinVar |
| 11 | g.108268446A>G | CA382545116 | ATM | c.2675A>G (p.Lys892Arg) c.*2146A>G (n.*2146A>G) n.2772+1104A>G n.2825A>G c.*1573+1104A>G (n.*1573+1104A>G) c.2510A>G (p.Lys837Arg) n.37A>G c.1631A>G (p.Lys544Arg) c.1367A>G (p.Lys456Arg) n.3408A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108268446A>T | CA382545117 | ATM | c.2675A>T (p.Lys892Met) c.*2146A>T (n.*2146A>T) n.2772+1104A>T n.2825A>T c.*1573+1104A>T (n.*1573+1104A>T) c.2510A>T (p.Lys837Met) n.37A>T c.1631A>T (p.Lys544Met) c.1367A>T (p.Lys456Met) n.3408A>T | dbSNP |
| 11 | g.108268447G>A | CA476673777 | ATM | c.2676G>A (p.Lys892=) c.*2147G>A (n.*2147G>A) n.2772+1105G>A n.2826G>A c.*1573+1105G>A (n.*1573+1105G>A) c.2511G>A (p.Lys837=) n.38G>A c.1632G>A (p.Lys544=) c.1368G>A (p.Lys456=) n.3409G>A | ClinVar dbSNP |
| 11 | g.108268447G>C | CA382545121 | ATM | c.2676G>C (p.Lys892Asn) c.*2147G>C (n.*2147G>C) n.2772+1105G>C n.2826G>C c.*1573+1105G>C (n.*1573+1105G>C) c.2511G>C (p.Lys837Asn) n.38G>C c.1632G>C (p.Lys544Asn) c.1368G>C (p.Lys456Asn) n.3409G>C | dbSNP |
| 11 | g.108268447G= | CA1998783990 | ATM | c.2676G= (p.Lys892=) c.*2147G= (n.*2147G=) n.2772+1105G= n.2826G= c.*1573+1105G= (n.*1573+1105G=) c.2511G= (p.Lys837=) n.38G= c.1632G= (p.Lys544=) c.1368G= (p.Lys456=) n.3409G= | |
| 11 | g.108268447G>T | CA382545123 | ATM | c.2676G>T (p.Lys892Asn) c.*2147G>T (n.*2147G>T) n.2772+1105G>T n.2826G>T c.*1573+1105G>T (n.*1573+1105G>T) c.2511G>T (p.Lys837Asn) n.38G>T c.1632G>T (p.Lys544Asn) c.1368G>T (p.Lys456Asn) n.3409G>T | ClinVar dbSNP |
| 11 | g.108268448C>A | CA382545125 | ATM | c.2677C>A (p.Gln893Lys) c.*2148C>A (n.*2148C>A) n.2772+1106C>A n.2827C>A c.*1573+1106C>A (n.*1573+1106C>A) c.2512C>A (p.Gln838Lys) n.39C>A c.1633C>A (p.Gln545Lys) c.1369C>A (p.Gln457Lys) n.3410C>A | dbSNP |
| 11 | g.108268448C= | CA1998783991 | ATM | c.2677C= (p.Gln893=) c.*2148C= (n.*2148C=) n.2772+1106C= n.2827C= c.*1573+1106C= (n.*1573+1106C=) c.2512C= (p.Gln838=) n.39C= c.1633C= (p.Gln545=) c.1369C= (p.Gln457=) n.3410C= | |
| 11 | g.108268448C>G | CA382545127 | ATM | c.2677C>G (p.Gln893Glu) c.*2148C>G (n.*2148C>G) n.2772+1106C>G n.2827C>G c.*1573+1106C>G (n.*1573+1106C>G) c.2512C>G (p.Gln838Glu) n.39C>G c.1633C>G (p.Gln545Glu) c.1369C>G (p.Gln457Glu) n.3410C>G | dbSNP |
| 11 | g.108268448C>T | CA382545129 | ATM | c.2677C>T (p.Gln893Ter) c.*2148C>T (n.*2148C>T) n.2772+1106C>T n.2827C>T c.*1573+1106C>T (n.*1573+1106C>T) c.2512C>T (p.Gln838Ter) n.39C>T c.1633C>T (p.Gln545Ter) c.1369C>T (p.Gln457Ter) n.3410C>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.108268449A= | CA1998783992 | ATM | c.2678A= (p.Gln893=) c.*2149A= (n.*2149A=) n.2772+1107A= n.2828A= c.*1573+1107A= (n.*1573+1107A=) c.2513A= (p.Gln838=) n.40A= c.1634A= (p.Gln545=) c.1370A= (p.Gln457=) n.3411A= | |
| 11 | g.108268449A>C | CA382545130 | ATM | c.2678A>C (p.Gln893Pro) c.*2149A>C (n.*2149A>C) n.2772+1107A>C n.2828A>C c.*1573+1107A>C (n.*1573+1107A>C) c.2513A>C (p.Gln838Pro) n.40A>C c.1634A>C (p.Gln545Pro) c.1370A>C (p.Gln457Pro) n.3411A>C | |
| 11 | g.108268449A>G | CA10579066 | ATM | c.2678A>G (p.Gln893Arg) c.*2149A>G (n.*2149A>G) n.2772+1107A>G n.2828A>G c.*1573+1107A>G (n.*1573+1107A>G) c.2513A>G (p.Gln838Arg) n.40A>G c.1634A>G (p.Gln545Arg) c.1370A>G (p.Gln457Arg) n.3411A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108268449A>T | CA382545132 | ATM | c.2678A>T (p.Gln893Leu) c.*2149A>T (n.*2149A>T) n.2772+1107A>T n.2828A>T c.*1573+1107A>T (n.*1573+1107A>T) c.2513A>T (p.Gln838Leu) n.40A>T c.1634A>T (p.Gln545Leu) c.1370A>T (p.Gln457Leu) n.3411A>T | ClinVar dbSNP |
| 11 | g.108268450A= | CA1998783993 | ATM | c.2679A= (p.Gln893=) c.*2150A= (n.*2150A=) n.2772+1108A= n.2829A= c.*1573+1108A= (n.*1573+1108A=) c.2514A= (p.Gln838=) n.41A= c.1635A= (p.Gln545=) c.1371A= (p.Gln457=) n.3412A= | |
| 11 | g.108268450A>C | CA382545133 | ATM | c.2679A>C (p.Gln893His) c.*2150A>C (n.*2150A>C) n.2772+1108A>C n.2829A>C c.*1573+1108A>C (n.*1573+1108A>C) c.2514A>C (p.Gln838His) n.41A>C c.1635A>C (p.Gln545His) c.1371A>C (p.Gln457His) n.3412A>C | |
| 11 | g.108268450A>G | CA189011 | ATM | c.2679A>G (p.Gln893=) c.*2150A>G (n.*2150A>G) n.2772+1108A>G n.2829A>G c.*1573+1108A>G (n.*1573+1108A>G) c.2514A>G (p.Gln838=) n.41A>G c.1635A>G (p.Gln545=) c.1371A>G (p.Gln457=) n.3412A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108268450A>T | CA382545135 | ATM | c.2679A>T (p.Gln893His) c.*2150A>T (n.*2150A>T) n.2772+1108A>T n.2829A>T c.*1573+1108A>T (n.*1573+1108A>T) c.2514A>T (p.Gln838His) n.41A>T c.1635A>T (p.Gln545His) c.1371A>T (p.Gln457His) n.3412A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108268451del | CA2695215238 | ATM | c.2680del (p.Asp894IlefsTer5) c.*2151del (n.*2151del) n.2772+1109del n.2830del c.*1573+1109del (n.*1573+1109del) c.2515del (p.Asp839IlefsTer5) n.42del c.1636del (p.Asp546IlefsTer5) c.1372del (p.Asp458IlefsTer5) n.3413del | |
| 11 | g.108268451G>A | CA382545138 | ATM | c.2680G>A (p.Asp894Asn) c.*2151G>A (n.*2151G>A) n.2772+1109G>A n.2830G>A c.*1573+1109G>A (n.*1573+1109G>A) c.2515G>A (p.Asp839Asn) n.42G>A c.1636G>A (p.Asp546Asn) c.1372G>A (p.Asp458Asn) n.3413G>A | dbSNP |
| 11 | g.108268451G>C | CA382545142 | ATM | c.2680G>C (p.Asp894His) c.*2151G>C (n.*2151G>C) n.2772+1109G>C n.2830G>C c.*1573+1109G>C (n.*1573+1109G>C) c.2515G>C (p.Asp839His) n.42G>C c.1636G>C (p.Asp546His) c.1372G>C (p.Asp458His) n.3413G>C | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.108268451G= | CA1998783994 | ATM | c.2680G= (p.Asp894=) c.*2151G= (n.*2151G=) n.2772+1109G= n.2830G= c.*1573+1109G= (n.*1573+1109G=) c.2515G= (p.Asp839=) n.42G= c.1636G= (p.Asp546=) c.1372G= (p.Asp458=) n.3413G= | |
| 11 | g.108268451G>T | CA382545140 | ATM | c.2680G>T (p.Asp894Tyr) c.*2151G>T (n.*2151G>T) n.2772+1109G>T n.2830G>T c.*1573+1109G>T (n.*1573+1109G>T) c.2515G>T (p.Asp839Tyr) n.42G>T c.1636G>T (p.Asp546Tyr) c.1372G>T (p.Asp458Tyr) n.3413G>T | ClinVar dbSNP |
| 11 | g.108268452A= | CA1998783995 | ATM | c.2681A= (p.Asp894=) c.*2152A= (n.*2152A=) n.2772+1110A= n.2831A= c.*1573+1110A= (n.*1573+1110A=) c.2516A= (p.Asp839=) n.43A= c.1637A= (p.Asp546=) c.1373A= (p.Asp458=) n.3414A= | |
| 11 | g.108268452A>C | CA382545144 | ATM | c.2681A>C (p.Asp894Ala) c.*2152A>C (n.*2152A>C) n.2772+1110A>C n.2831A>C c.*1573+1110A>C (n.*1573+1110A>C) c.2516A>C (p.Asp839Ala) n.43A>C c.1637A>C (p.Asp546Ala) c.1373A>C (p.Asp458Ala) n.3414A>C | |
| 11 | g.108268452A>G | CA228407571 | ATM | c.2681A>G (p.Asp894Gly) c.*2152A>G (n.*2152A>G) n.2772+1110A>G n.2831A>G c.*1573+1110A>G (n.*1573+1110A>G) c.2516A>G (p.Asp839Gly) n.43A>G c.1637A>G (p.Asp546Gly) c.1373A>G (p.Asp458Gly) n.3414A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.108268452A>T | CA382545147 | ATM | c.2681A>T (p.Asp894Val) c.*2152A>T (n.*2152A>T) n.2772+1110A>T n.2831A>T c.*1573+1110A>T (n.*1573+1110A>T) c.2516A>T (p.Asp839Val) n.43A>T c.1637A>T (p.Asp546Val) c.1373A>T (p.Asp458Val) n.3414A>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.108268453T>A | CA382545149 | ATM | c.2682T>A (p.Asp894Glu) c.*2153T>A (n.*2153T>A) n.2772+1111T>A n.2832T>A c.*1573+1111T>A (n.*1573+1111T>A) c.2517T>A (p.Asp839Glu) n.44T>A c.1638T>A (p.Asp546Glu) c.1374T>A (p.Asp458Glu) n.3415T>A | dbSNP |
| 11 | g.108268453T>C | CA476673783 | ATM | c.2682T>C (p.Asp894=) c.*2153T>C (n.*2153T>C) n.2772+1111T>C n.2832T>C c.*1573+1111T>C (n.*1573+1111T>C) c.2517T>C (p.Asp839=) n.44T>C c.1638T>C (p.Asp546=) c.1374T>C (p.Asp458=) n.3415T>C | gnomAD v4 |
| 11 | g.108268453T>G | CA382545151 | ATM | c.2682T>G (p.Asp894Glu) c.*2153T>G (n.*2153T>G) n.2772+1111T>G n.2832T>G c.*1573+1111T>G (n.*1573+1111T>G) c.2517T>G (p.Asp839Glu) n.44T>G c.1638T>G (p.Asp546Glu) c.1374T>G (p.Asp458Glu) n.3415T>G | |
| 11 | g.108268454C>A | CA382545154 | ATM | c.2683C>A (p.Leu895Ile) c.*2154C>A (n.*2154C>A) n.2772+1112C>A n.2833C>A c.*1573+1112C>A (n.*1573+1112C>A) c.2518C>A (p.Leu840Ile) n.45C>A c.1639C>A (p.Leu547Ile) c.1375C>A (p.Leu459Ile) n.3416C>A | ClinVar dbSNP |
| 11 | g.108268454C= | CA1998783996 | ATM | c.2683C= (p.Leu895=) c.*2154C= (n.*2154C=) n.2772+1112C= n.2833C= c.*1573+1112C= (n.*1573+1112C=) c.2518C= (p.Leu840=) n.45C= c.1639C= (p.Leu547=) c.1375C= (p.Leu459=) n.3416C= | |
| 11 | g.108268454C>G | CA382545155 | ATM | c.2683C>G (p.Leu895Val) c.*2154C>G (n.*2154C>G) n.2772+1112C>G n.2833C>G c.*1573+1112C>G (n.*1573+1112C>G) c.2518C>G (p.Leu840Val) n.45C>G c.1639C>G (p.Leu547Val) c.1375C>G (p.Leu459Val) n.3416C>G | dbSNP gnomAD v4 |
| 11 | g.108268454C>T | CA476673786 | ATM | c.2683C>T (p.Leu895=) c.*2154C>T (n.*2154C>T) n.2772+1112C>T n.2833C>T c.*1573+1112C>T (n.*1573+1112C>T) c.2518C>T (p.Leu840=) n.45C>T c.1639C>T (p.Leu547=) c.1375C>T (p.Leu459=) n.3416C>T | ClinVar dbSNP |
| 11 | g.108268455del | CA476673788 | ATM | c.2684del (p.Leu895HisfsTer4) c.*2155del (n.*2155del) n.2772+1113del n.2834del c.*1573+1113del (n.*1573+1113del) c.2519del (p.Leu840HisfsTer4) n.46del c.1640del (p.Leu547HisfsTer4) c.1376del (p.Leu459HisfsTer4) n.3417del | COSMIC |
| 11 | g.108268455T>A | CA382545158 | ATM | c.2684T>A (p.Leu895Gln) c.*2155T>A (n.*2155T>A) n.2772+1113T>A n.2834T>A c.*1573+1113T>A (n.*1573+1113T>A) c.2519T>A (p.Leu840Gln) n.46T>A c.1640T>A (p.Leu547Gln) c.1376T>A (p.Leu459Gln) n.3417T>A | dbSNP |
| 11 | g.108268455T>C | CA382545159 | ATM | c.2684T>C (p.Leu895Pro) c.*2155T>C (n.*2155T>C) n.2772+1113T>C n.2834T>C c.*1573+1113T>C (n.*1573+1113T>C) c.2519T>C (p.Leu840Pro) n.46T>C c.1640T>C (p.Leu547Pro) c.1376T>C (p.Leu459Pro) n.3417T>C | dbSNP |
| 11 | g.108268455T>G | CA382545161 | ATM | c.2684T>G (p.Leu895Arg) c.*2155T>G (n.*2155T>G) n.2772+1113T>G n.2834T>G c.*1573+1113T>G (n.*1573+1113T>G) c.2519T>G (p.Leu840Arg) n.46T>G c.1640T>G (p.Leu547Arg) c.1376T>G (p.Leu459Arg) n.3417T>G | |
| 11 | g.108268456_108268470dup | CA2697558906 | ATM | c.2685_2699dup (p.Asp899_Met900insIleLeuPheLeuAsp) c.*2156_*2170dup (n.*2156_*2170dup) n.2772+1114_2772+1128dup n.2835_2849dup c.*1573+1114_*1573+1128dup (n.*1573+1114_*1573+1128dup) c.2520_2534dup (p.Asp844_Met845insIleLeuPheLeuAsp) n.47_61dup c.1641_1655dup (p.Asp551_Met552insIleLeuPheLeuAsp) c.1377_1391dup (p.Asp463_Met464insIleLeuPheLeuAsp) n.3418_3432dup | ClinVar |
| 11 | g.108268456A= | CA1998783997 | ATM | c.2685A= (p.Leu895=) c.*2156A= (n.*2156A=) n.2772+1114A= n.2835A= c.*1573+1114A= (n.*1573+1114A=) c.2520A= (p.Leu840=) n.47A= c.1641A= (p.Leu547=) c.1377A= (p.Leu459=) n.3418A= | |
| 11 | g.108268456A>C | CA476673789 | ATM | c.2685A>C (p.Leu895=) c.*2156A>C (n.*2156A>C) n.2772+1114A>C n.2835A>C c.*1573+1114A>C (n.*1573+1114A>C) c.2520A>C (p.Leu840=) n.47A>C c.1641A>C (p.Leu547=) c.1377A>C (p.Leu459=) n.3418A>C | |
| 11 | g.108268456A>G | CA163524 | ATM | c.2685A>G (p.Leu895=) c.*2156A>G (n.*2156A>G) n.2772+1114A>G n.2835A>G c.*1573+1114A>G (n.*1573+1114A>G) c.2520A>G (p.Leu840=) n.47A>G c.1641A>G (p.Leu547=) c.1377A>G (p.Leu459=) n.3418A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108268456A>T | CA476673790 | ATM | c.2685A>T (p.Leu895=) c.*2156A>T (n.*2156A>T) n.2772+1114A>T n.2835A>T c.*1573+1114A>T (n.*1573+1114A>T) c.2520A>T (p.Leu840=) n.47A>T c.1641A>T (p.Leu547=) c.1377A>T (p.Leu459=) n.3418A>T | gnomAD v4 |
| 11 | g.108268457C>A | CA382545167 | ATM | c.2686C>A (p.Leu896Ile) c.*2157C>A (n.*2157C>A) n.2772+1115C>A n.2836C>A c.*1573+1115C>A (n.*1573+1115C>A) c.2521C>A (p.Leu841Ile) n.48C>A c.1642C>A (p.Leu548Ile) c.1378C>A (p.Leu460Ile) n.3419C>A | ClinVar |
| 11 | g.108268457C= | CA1998783998 | ATM | c.2686C= (p.Leu896=) c.*2157C= (n.*2157C=) n.2772+1115C= n.2836C= c.*1573+1115C= (n.*1573+1115C=) c.2521C= (p.Leu841=) n.48C= c.1642C= (p.Leu548=) c.1378C= (p.Leu460=) n.3419C= | |
| 11 | g.108268457C>G | CA6265095 | ATM | c.2686C>G (p.Leu896Val) c.*2157C>G (n.*2157C>G) n.2772+1115C>G n.2836C>G c.*1573+1115C>G (n.*1573+1115C>G) c.2521C>G (p.Leu841Val) n.48C>G c.1642C>G (p.Leu548Val) c.1378C>G (p.Leu460Val) n.3419C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.108268457C>T | CA382545165 | ATM | c.2686C>T (p.Leu896Phe) c.*2157C>T (n.*2157C>T) n.2772+1115C>T n.2836C>T c.*1573+1115C>T (n.*1573+1115C>T) c.2521C>T (p.Leu841Phe) n.48C>T c.1642C>T (p.Leu548Phe) c.1378C>T (p.Leu460Phe) n.3419C>T | ClinVar dbSNP |
| 11 | g.108268457_108268458delinsCT | CA1998783999 | ATM | c.2686_2687delinsCT (p.Leu896=) c.*2157_*2158delinsCT (n.*2157_*2158delinsCT) n.2772+1115_2772+1116delinsCT n.2836_2837delinsCT c.*1573+1115_*1573+1116delinsCT (n.*1573+1115_*1573+1116delinsCT) c.2521_2522delinsCT (p.Leu841=) n.48_49delinsCT c.1642_1643delinsCT (p.Leu548=) c.1378_1379delinsCT (p.Leu460=) n.3419_3420delinsCT |