Full data view for gene DHTKD1

Information The variants shown are described using the NM_018706.6 transcript reference sequence.

71 entries on 1 page. Showing entries 1 - 71.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Allele Count     

Allele Number     

Combined Depth     

Heterozygote     

Homozygous     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
./. - c.-116G>A r.(=) p.(=) Unknown g.12110917G>A - DHTKD1_000001 rs73577217 0.001938 1 516 3169 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.40G>T r.(?) p.(Gly14Cys) Unknown g.12111072G>T - DHTKD1_000002 rs146881212 0.005814 3 516 8703 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.58T>C r.(?) p.(Phe20Leu) Unknown g.12111090T>C - DHTKD1_000003 rs1279138 0.984 508 516 11689 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.155-123_155-116del r.(=) p.(=) Unknown g.12123348_12123355del - DHTKD1_000004 rs569112793 0.984 508 516 11689 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.155-108T>A r.(=) p.(=) Unknown g.12123363T>A - DHTKD1_000005 rs1722446 0.2 95 476 1015 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.155-84T>C r.(=) p.(=) Unknown g.12123387T>C - DHTKD1_000006 rs150997845 0.014 7 516 2221 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.209C>G r.(?) p.(Ala70Gly) Unknown g.12123525C>G - DHTKD1_000007 rs34644609 0.00969 5 516 8243 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.234C>T r.(=) p.(=) Unknown g.12123550C>T - DHTKD1_000008 rs138526346 0.003876 2 516 8029 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.310+40C>T r.(=) p.(=) Unknown g.12123666C>T - DHTKD1_000009 rs10906066 0.51 262 514 2376 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.310+41A>C r.(=) p.(=) Unknown g.12123667A>C - DHTKD1_000010 rs1722445 0.284 146 514 2293 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.311-49A>T r.(=) p.(=) Unknown g.12126490A>T - DHTKD1_000011 rs11257527 0.488 243 498 1583 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.609C>T r.(=) p.(=) Unknown g.12129620C>T - DHTKD1_000012 rs12265659 0.001938 1 516 9392 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.718-24T>A r.(=) p.(=) Unknown g.12130961T>A - DHTKD1_000013 rs200951603 0.001938 1 516 5826 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.814T>G r.(?) p.(Tyr272Asp) Unknown g.12131081T>G - DHTKD1_000014 rs3740015 0.525 271 516 14472 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.923G>A r.(?) p.(Arg308His) Unknown g.12131190G>A - DHTKD1_000015 rs17849603 0.001938 1 516 10114 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.951C>T r.(=) p.(=) Unknown g.12131218C>T - DHTKD1_000016 rs3740016 0.07 36 516 9315 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.973G>A r.(?) p.(Val325Ile) Unknown g.12131240G>A - DHTKD1_000017 rs141096646 0.001938 1 516 7606 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.987+10G>C r.(=) p.(=) Unknown g.12131264G>C - DHTKD1_000018 rs142511121 0.005814 3 516 5516 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1048A>G r.(?) p.(Asn350Asp) Unknown g.12133572A>G - DHTKD1_000019 rs34716552 0.00969 5 516 3334 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1079T>C r.(?) p.(Val360Ala) Unknown g.12133603T>C - DHTKD1_000020 rs147571909 0.001938 1 516 4559 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1284G>A r.(=) p.(=) Unknown g.12136196G>A - DHTKD1_000021 rs148613315 0.001938 1 516 8379 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1358+31C>T r.(=) p.(=) Unknown g.12136301C>T - DHTKD1_000022 rs781007690 0.001938 1 516 4472 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1359-28del r.(=) p.(=) Unknown g.12139655del - DHTKD1_000023 rs138000075 0.001938 1 516 4472 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1560C>T r.(=) p.(=) Unknown g.12139884C>T - DHTKD1_000024 rs35537424 0.041 21 516 8630 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1671+33C>T r.(=) p.(=) Unknown g.12140028C>T - DHTKD1_000025 rs116269135 0.005814 3 516 7398 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1671+35C>G r.(=) p.(=) Unknown g.12140030C>G - DHTKD1_000026 rs10906076 0.705 364 516 7486 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1671+45C>T r.(=) p.(=) Unknown g.12140040C>T - DHTKD1_000027 rs138799837 0.012 6 516 6986 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1671+53G>A r.(=) p.(=) Unknown g.12140048G>A - DHTKD1_000028 rs142073182 0.003876 2 516 6731 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1756+16T>C r.(=) p.(=) Unknown g.12142277T>C - DHTKD1_000029 rs202188722 0.002564 1 390 1343 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1756+23_1756+24insTGTTTTTTTTTTT r.(=) p.(=) Unknown g.12142284_12142285insTGTTTTTTTTTTT - DHTKD1_000030 rs571364518 - - - - - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1756+25_1756+26insTTTTTTTTTTTTGT r.(=) p.(=) Unknown g.12142286_12142287insTTTTTTTTTTTTGT - DHTKD1_000031 rs774056019 - - - - - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1756+40G>T r.(=) p.(=) Unknown g.12142301G>T - DHTKD1_000032 rs117734522 0.133 13 98 436 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1756+41A>T r.(=) p.(=) Unknown g.12142302A>T - DHTKD1_000033 rs200122823 0.133 13 98 433 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1756+42G>T r.(=) p.(=) Unknown g.12142303G>T - DHTKD1_000034 rs756866775 0.127 13 102 427 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1821C>G r.(?) p.(Ile607Met) Unknown g.12143105C>G - DHTKD1_000035 rs2062988 0.709 366 516 5889 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1896+140G>A r.(=) p.(=) Unknown g.12143320G>A - DHTKD1_000036 rs73577257 0.049 25 512 1821 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1897-126A>C r.(=) p.(=) Unknown g.12148119A>C - DHTKD1_000037 rs72779649 0.049 25 510 1553 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1911A>C r.(=) p.(=) Unknown g.12148259A>C - DHTKD1_000038 rs1701472 0.967 499 516 7838 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1938T>C r.(=) p.(=) Unknown g.12148286T>C - DHTKD1_000039 rs1615510 0.973 502 516 8492 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2047+44G>A r.(=) p.(=) Unknown g.12148439G>A - DHTKD1_000040 rs116667960 0.003876 2 516 2955 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2048-100G>T r.(=) p.(=) Unknown g.12149808G>T - DHTKD1_000041 rs72779653 0.064 33 516 6308 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2048-12G>T r.(=) p.(=) Unknown g.12149896G>T - DHTKD1_000042 rs76263909 0.052 27 516 6942 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2079C>T r.(=) p.(=) Unknown g.12149939C>T - DHTKD1_000043 rs1722462 0.899 464 516 8568 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2121C>A r.(?) p.(Asp707Glu) Unknown g.12149981C>A - DHTKD1_000044 rs35046964 0.001938 1 516 7876 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2155-28T>C r.(=) p.(=) Unknown g.12154871T>C - DHTKD1_000045 rs79706091 0.005814 3 516 2844 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2184C>T r.(=) p.(=) Unknown g.12154928C>T - DHTKD1_000046 rs142017323 0.001938 1 516 5889 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2319+129T>G r.(=) p.(=) Unknown g.12155192T>G - DHTKD1_000047 rs114522924 0.001976 1 506 1205 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2320-106G>A r.(=) p.(=) Unknown g.12159566G>A - DHTKD1_000048 rs12221463 0.012 6 516 5467 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2320-25A>G r.(=) p.(=) Unknown g.12159647A>G - DHTKD1_000049 rs2399771 0.971 501 516 7823 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2320-4G>A r.spl? p.? Unknown g.12159668G>A - DHTKD1_000050 rs12416681 0.07 36 516 7174 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2340A>G r.(=) p.(=) Unknown g.12159692A>G - DHTKD1_000051 rs149564288 0.001938 1 516 6696 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2402+10G>C r.(=) p.(=) Unknown g.12159764G>C - DHTKD1_000052 rs139573946 0.001938 1 516 3883 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2402+92_2402+113del r.(=) p.(=) Unknown g.12159846_12159867del - DHTKD1_000053 rs139899773 0.001938 1 516 3883 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2402+93_2402+104del r.(=) p.(=) Unknown g.12159847_12159858del - DHTKD1_000054 rs139899773 0.001938 1 516 3883 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2402+93_2402+110del r.(=) p.(=) Unknown g.12159847_12159864del - DHTKD1_000055 rs139899773 0.001938 1 516 3883 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2402+106_2402+107del r.(=) p.(=) Unknown g.12159860_12159861del - DHTKD1_000056 rs376672314 0.001938 1 516 3883 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2402+107_2402+108insTA r.(=) p.(=) Unknown g.12159861_12159862insTA - DHTKD1_000057 rs781435056 - - - - - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2403-152T>C r.(=) p.(=) Unknown g.12160596T>C - DHTKD1_000058 rs56975355 0.077 34 444 609 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2403-146T>C r.(=) p.(=) Unknown g.12160602T>C - DHTKD1_000059 rs11257543 0.644 241 374 646 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2403-142T>C r.(=) p.(=) Unknown g.12160606T>C - DHTKD1_000060 rs11257544 0.487 189 388 692 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2403-125C>T r.(=) p.(=) Unknown g.12160623C>T - DHTKD1_000061 rs11257545 0.774 336 434 845 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2403-116T>C r.(=) p.(=) Unknown g.12160632T>C - DHTKD1_000062 rs112318056 0.111 55 494 1039 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2403-98A>G r.(=) p.(=) Unknown g.12160650A>G - DHTKD1_000063 rs149434328 0.003922 2 510 1396 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2403-81T>C r.(=) p.(=) Unknown g.12160667T>C - DHTKD1_000064 rs111851612 0.039 20 514 1888 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2523C>T r.(=) p.(=) Unknown g.12160868C>T - DHTKD1_000065 rs12769375 0.007752 4 516 4900 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2572+55A>G r.(=) p.(=) Unknown g.12160972A>G - DHTKD1_000066 rs138297782 0.003922 2 510 1572 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2573-82C>G r.(=) p.(=) Unknown g.12162099C>G - DHTKD1_000067 rs188258511 0.001938 1 516 7135 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2573-78del r.(=) p.(=) Unknown g.12162103del - DHTKD1_000068 rs149657916 0.001938 1 516 7135 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2658+56_2658+57insTTTC r.(=) p.(=) Unknown g.12162322_12162323insTTTC - DHTKD1_000069 rs912397287 - - - - - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2659-126A>G r.(=) p.(=) Unknown g.12162660A>G - DHTKD1_000070 rs77965382 0.027 14 516 2876 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.*129C>T r.(=) p.(=) Unknown g.12163016C>T - DHTKD1_000071 rs148858722 0.009174 4 436 583 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
Legend