All transcript variants in gene ATM

Information The variants shown are described using the NM_000051.3 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Heterozygote     

Homozygous     

Owner     
./. - c.-30-990A>G - - g.108226605A>G - ATM_000001 rs228591 0.5632 160 111 Admin
./. - c.496+1362C>T r.(=) p.(=) g.108237196C>T - ATM_000002 rs12287161 0.0456 25 3 Admin
./. - c.1540C>T - - g.108251005C>T - ATM_000003 rs2235000 0.0132 9 0 Admin
./. - c.1635C>G - - g.108251864C>G - ATM_000004 rs2227924 0.3279 83 69 Admin
./. - c.2466+909C>T - - g.108259984C>T - ATM_000005 rs11212570 0.1132 31 23 Admin
./. - c.2571A>G r.(=) p.(=) g.108267275A>G - ATM_000006 rs1800056 0.0279 9 5 Admin
./. - c.2613C>T - - g.108267317C>T - ATM_000007 rs3218673 0.0206 12 1 Admin
./. - c.3285-1380A>G - - g.108278111A>G - ATM_000008 rs618499 0.6250 151 136 Admin
./. - c.3746+490C>G - - g.108283369C>G - ATM_000009 rs624366 0.4603 158 77 Admin
./. - c.5005+753A>G - - g.108298135A>G - ATM_000010 rs645485 0.5324 145 108 Admin
./. - c.5005+885A>C - - g.108298267A>C - ATM_000011 rs4988023 0.1176 71 4 Admin
./. - c.5674+712C>T - - g.108305564C>T - ATM_000012 rs4988048 0.1029 64 3 Admin
./. - c.5763-475A>C - - g.108309685A>C - ATM_000013 rs4988068 0.0235 16 0 Admin
./. - c.5918+1026C>T r.(=) p.(=) g.108311341C>T - ATM_000014 rs673281 0.6118 155 130 Admin
./. - c.8269-1258C>G - - g.108341964C>G - ATM_000024 rs227073 0.5353 155 104 Admin
./. - c.8671+103A>G - - g.108347468A>G - ATM_000021 rs227075 0.6029 155 127 Admin
./. - c.8671+2564C>T r.(=) p.(=) g.108349929C>T - ATM_000022 rs373759 0.3338 147 40 Admin
./. - c.8671+2910A>G - - g.108350275A>G - ATM_000023 rs17107969 0.0471 20 6 Admin
./. - c.8671+3006G>T - - g.108350371G>T - ATM_000019 rs419716 0.4515 158 74 Admin
./. - c.8672-1693G>T - - g.108352073G>T - ATM_000020 rs227041 0.5426 158 105 Admin
./. - c.8850+59C>T r.(=) p.(=) g.108354933C>T - ATM_000015 rs664143 0.3897 158 53 Admin
./. - c.8850+423C>T r.(=) p.(=) g.108355297C>T - ATM_000016 rs652541 0.3912 153 56 Admin
./. - c.8850+818C>T - - g.108355692C>T - ATM_000017 rs7925162 0.0191 7 3 Admin
./. - c.8851-695G>T - - g.108364387G>T - ATM_000018 rs3092993 0.1279 68 9 Admin
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