Unique variants in gene AFG3L2

Information The variants shown are described using the NM_006796.2 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Allele Count     

Allele Number     

Combined Depth     

Heterozygote     

Homozygous     

Owner     
./. 1 - c.-137G>C r.(=) p.(=) g.12377218C>G - AFG3L2_000016 rs191000529 0.003953 2 506 1568 - - Admin
./. 1 - c.-96G>C r.(=) p.(=) g.12377177C>G - AFG3L2_000015 rs12327346 0.065 33 510 2075 - - Admin
./. 1 - c.-71C>T r.(=) p.(=) g.12377152G>A - AFG3L2_000014 rs571340907 0.009804 5 510 2228 - - Admin
./. 1 - c.215-82A>G r.(=) p.(=) g.12371007T>C - AFG3L2_000013 rs111728373 0.004566 2 438 555 - - Admin
./. 1 - c.292+94C>T r.(=) p.(=) g.12370754G>A - AFG3L2_000012 rs113905513 0.014 7 516 4122 - - Admin
./. 1 - c.293-61A>G r.(=) p.(=) g.12367442T>C - AFG3L2_000011 rs8093375 0.194 100 516 8013 - - Admin
./. 1 - c.293-14_293-13del r.(=) p.(=) g.12367394_12367395del - AFG3L2_000010 rs556473698 0.001938 1 516 7354 - - Admin
./. 1 - c.400-14C>G r.(=) p.(=) g.12367130G>C - AFG3L2_000009 rs192002414 0.001938 1 516 7354 - - Admin
./. 1 - c.552+27G>A r.(=) p.(=) g.12366937C>T - AFG3L2_000008 rs16977144 0.005814 3 516 7946 - - Admin
./. 1 - c.552+79G>A r.(=) p.(=) g.12366885C>T - AFG3L2_000007 rs77658783 0.001938 1 516 6217 - - Admin
./. 1 - c.553-95G>A r.(=) p.(=) g.12363950C>T - AFG3L2_000006 rs2298542 0.756 390 516 3592 - - Admin
./. 1 - c.553-34G>A r.(=) p.(=) g.12363889C>T - AFG3L2_000005 rs150662676 0.001938 1 516 4072 - - Admin
./. 1 - c.627+98G>A r.(=) p.(=) g.12363683C>T - AFG3L2_000004 rs2298543 0.198 99 500 1688 - - Admin
./. 1 - c.627+111C>T r.(=) p.(=) g.12363670G>A - AFG3L2_000003 rs142904481 0.007813 4 512 1528 - - Admin
./. 1 - c.752+6C>T r.(=) p.(=) g.12359920G>A - AFG3L2_000002 rs8097342 0.683 328 480 1113 - - Admin
./. 1 - c.753-78A>G r.(=) p.(=) g.12359020T>C - AFG3L2_000001 rs80162526 0.00969 5 516 4389 - - Admin
./. 1 - c.753-55T>C r.(=) p.(=) g.12358997A>G - AFG3L2_000038 rs7407640 0.717 370 516 6783 - - Admin
./. 1 - c.1026+8G>A r.(=) p.(=) g.12358661C>T - AFG3L2_000037 rs8091858 0.027 14 516 2718 - - Admin
./. 1 - c.1059_1060insG r.(?) p.(Lys354Glufs*6) g.12356797_12356798insC - AFG3L2_000036 - - - - - - - Admin
./. 1 - c.1164+130G>C r.(=) p.(=) g.12356563C>G - AFG3L2_000035 rs549774790 0.001938 1 516 2463 - - Admin
./. 1 - c.1165-44A>G r.(=) p.(=) g.12353201T>C - AFG3L2_000034 rs372075395 0.001938 1 516 3523 - - Admin
./. 1 - c.1165-24G>A r.(=) p.(=) g.12353181C>T - AFG3L2_000033 rs141328885 0.001938 1 516 4722 - - Admin
./. 1 - c.1165-21T>A r.(=) p.(=) g.12353178A>T - AFG3L2_000032 rs9966470 0.128 66 516 4840 - - Admin
./. 1 - c.1389G>A r.(=) p.(=) g.12351342C>T - AFG3L2_000031 rs11080572 0.717 370 516 5175 - - Admin
./. 1 - c.1426+30_1426+31insGTCCAG r.(=) p.(=) g.12351274_12351275insCTGGAC - AFG3L2_000030 rs574904377 - - - - - - Admin
./. 1 - c.1553-61T>C r.(=) p.(=) g.12348443A>G - AFG3L2_000029 rs572770315 0.001938 1 516 4626 - - Admin
./. 1 - c.1650A>G r.(=) p.(=) g.12348285T>C - AFG3L2_000028 rs11553521 0.752 388 516 6872 - - Admin
./. 1 - c.1664-129G>A r.(=) p.(=) g.12344375C>T - AFG3L2_000027 rs114393425 0.005814 3 516 3946 - - Admin
./. 1 - c.1664-39G>A r.(=) p.(=) g.12344285C>T - AFG3L2_000026 rs75206140 0.037 19 516 8889 - - Admin
./. 1 - c.1664-9T>C r.(=) p.(=) g.12344255A>G - AFG3L2_000025 rs200476229 0.003876 2 516 8858 - - Admin
./. 1 - c.1980+18T>A r.(=) p.(=) g.12340182A>T - AFG3L2_000024 rs377272405 0.001938 1 516 5607 - - Admin
./. 1 - c.1981-111_1981-109del r.(=) p.(=) g.12337643_12337645del - AFG3L2_000023 rs376213367 0.017 9 516 3256 - - Admin
./. 1 - c.1981-111_1981-109dup r.(=) p.(=) g.12337643_12337645dup - AFG3L2_000022 rs376213367 0.017 9 516 3256 - - Admin
./. 1 - c.2175+18G>A r.(=) p.(=) g.12337322C>T - AFG3L2_000021 rs117096851 0.017 9 516 3256 - - Admin
./. 1 - c.*2G>A r.(=) p.(=) g.12329562C>T - AFG3L2_000020 rs113981080 0.007874 4 508 1559 - - Admin
./. 1 - c.*28G>C r.(=) p.(=) g.12329536C>G - AFG3L2_000019 rs1129115 0.228 107 470 1093 - - Admin
./. 1 - c.*311C>T r.(=) p.(=) g.12329253G>A - AFG3L2_000018 rs79884272 0.009766 5 512 2433 - - Admin
./. 1 - c.*325C>T r.(=) p.(=) g.12329239G>A - AFG3L2_000017 rs550591123 0.001946 1 514 2903 - - Admin
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