Unique variants in gene PDK3

Information The variants shown are described using the NM_005391.4 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-41_-40insC r.(=) p.(=) g.24483532_24483533insC Copied from the Exome Variant Server PDK3_000001 55/7892 32/5139 23/2753
1 c.-22T>C r.(=) p.(=) g.24483551T>C Copied from the Exome Variant Server PDK3_000002 1142/9434 20/6032 1122/3402
1 c.-12G>T r.(=) p.(=) g.24483561G>T Copied from the Exome Variant Server PDK3_000003 1/9537 1/6085 0/3452
1 c.8_9insG r.(?) p.(Phe4Valfs*36) g.24483580_24483581insG Copied from the Exome Variant Server PDK3_000004 241/9429 158/5979 83/3450
1 c.180A>G r.(=) p.(=) g.24512932A>G Copied from the Exome Variant Server PDK3_000005 1/10563 0/6728 1/3835
1 c.203C>T r.(?) p.(Pro68Leu) g.24512955C>T Copied from the Exome Variant Server PDK3_000006 1/10563 0/6728 1/3835
1 c.204G>A r.(=) p.(=) g.24512956G>A Copied from the Exome Variant Server PDK3_000007 1/10563 1/6728 0/3835
1 c.249-39A>G r.(=) p.(=) g.24516907A>G Copied from the Exome Variant Server PDK3_000008 1/10465 1/6704 0/3761
1 c.249-20_249-19del r.(=) p.(=) g.24516926_24516927del Copied from the Exome Variant Server PDK3_000009 345/10097 242/6449 103/3648
1 c.249-19del r.(=) p.(=) g.24516927del Copied from the Exome Variant Server PDK3_000011 2964/10097 2004/6449 960/3648
1 c.249-19dup r.(=) p.(=) g.24516927dup Copied from the Exome Variant Server PDK3_000010 688/10097 428/6449 260/3648
1 c.304C>T r.(?) p.(Pro102Ser) g.24517001C>T Copied from the Exome Variant Server PDK3_000012 2/10563 0/6728 2/3835
1 c.320+22T>G r.(=) p.(=) g.24517039T>G Copied from the Exome Variant Server PDK3_000013 362/10560 339/6725 23/3835
1 c.336G>C r.(=) p.(=) g.24521459G>C Copied from the Exome Variant Server PDK3_000014 2/10563 2/6728 0/3835
1 c.341A>C r.(?) p.(Lys114Thr) g.24521464A>C Copied from the Exome Variant Server PDK3_000015 2/10563 2/6728 0/3835
1 c.376A>G r.(?) p.(Met126Val) g.24521499A>G Copied from the Exome Variant Server PDK3_000016 16/10563 16/6728 0/3835
1 c.505+41A>G r.(=) p.(=) g.24521669A>G Copied from the Exome Variant Server PDK3_000018 3/10563 3/6728 0/3835
1 c.506-53C>T r.(=) p.(=) g.24523273C>T Copied from the Exome Variant Server PDK3_000020 10/3600 0/2391 10/1209
1 c.506-39G>A r.(=) p.(=) g.24523287G>A Copied from the Exome Variant Server PDK3_000023 1/10563 0/6728 1/3835
1 c.506-6G>A r.(=) p.(=) g.24523320G>A Copied from the Exome Variant Server PDK3_000025 1/10563 1/6728 0/3835
1 c.567C>T r.(=) p.(=) g.24523387C>T Copied from the Exome Variant Server PDK3_000027 1/10563 0/6728 1/3835
1 c.582G>A r.(=) p.(=) g.24523402G>A Copied from the Exome Variant Server PDK3_000029 3/10563 2/6728 1/3835
1 c.595+12G>A r.(=) p.(=) g.24523427G>A Copied from the Exome Variant Server PDK3_000031 2/10563 0/6728 2/3835
1 c.595+50G>T r.(=) p.(=) g.24523465G>T Copied from the Exome Variant Server PDK3_000032 1/10563 1/6728 0/3835
1 c.689A>G r.(?) p.(Lys230Arg) g.24544330A>G Copied from the Exome Variant Server PDK3_000034 1/10563 1/6728 0/3835
1 c.751-30A>G r.(=) p.(=) g.24545661A>G Copied from the Exome Variant Server PDK3_000017 1/10530 1/6707 0/3823
1 c.751-13C>A r.(=) p.(=) g.24545678C>A Copied from the Exome Variant Server PDK3_000019 1/10557 0/6723 1/3834
1 c.751-11T>C r.(=) p.(=) g.24545680T>C Copied from the Exome Variant Server PDK3_000021 1/10557 1/6723 0/3834
1 c.751-10A>G r.(=) p.(=) g.24545681A>G Copied from the Exome Variant Server PDK3_000022 2/10557 1/6723 1/3834
1 c.852+18A>G r.(=) p.(=) g.24545810A>G Copied from the Exome Variant Server PDK3_000024 1/10558 1/6724 0/3834
1 c.852+22A>C r.(=) p.(=) g.24545814A>C Copied from the Exome Variant Server PDK3_000026 2/10555 2/6723 0/3832
1 c.853-22G>T r.(=) p.(=) g.24546171G>T Copied from the Exome Variant Server PDK3_000028 1/10563 1/6728 0/3835
1 c.853-4G>A r.spl? p.? g.24546189G>A Copied from the Exome Variant Server PDK3_000030 1/10563 1/6728 0/3835
1 c.964-22A>G r.(=) p.(=) g.24549752A>G Copied from the Exome Variant Server PDK3_000033 1/10563 1/6728 0/3835
1 c.988A>C r.(?) p.(Ile330Leu) g.24549798A>C Copied from the Exome Variant Server PDK3_000035 1/10563 1/6728 0/3835
1 c.995G>A r.(?) p.(Arg332His) g.24549805G>A Copied from the Exome Variant Server PDK3_000036 1/10563 1/6728 0/3835
1 c.1077+8G>A r.(=) p.(=) g.24549895G>A Copied from the Exome Variant Server PDK3_000037 1/10563 1/6728 0/3835
1 c.1078-34C>T r.(=) p.(=) g.24552012C>T Copied from the Exome Variant Server PDK3_000038 1/10563 0/6728 1/3835
1 c.1078-23G>A r.(=) p.(=) g.24552023G>A Copied from the Exome Variant Server PDK3_000039 1/10563 1/6728 0/3835
1 c.1202A>G r.(?) p.(Lys401Arg) g.24552170A>G Copied from the Exome Variant Server PDK3_000040 1/10563 1/6728 0/3835
1 c.1211C>T r.(?) p.(Ala404Val) g.24552179C>T Copied from the Exome Variant Server PDK3_000041 1/10563 1/6728 0/3835
1 c.*42G>A r.(=) p.(=) g.24552231G>A Copied from the Exome Variant Server PDK3_000042 1/10563 0/6728 1/3835
1 c.*5109G>A r.(=) p.(=) g.24557298G>A Copied from the Exome Variant Server PDK3_000043 2/3600 1/2391 1/1209
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