Full data view for gene PDHA1

Information The variants shown are described using the NM_000284.3 transcript reference sequence.

95 entries on 1 page. Showing entries 1 - 95.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.57+6A>T r.(=) p.(=) g.19362218A>T Copied from the Exome Variant Server PDHA1_000001 1/10503 0/6688 1/3815 - - - - - - -
?/? c.57+23G>A r.(=) p.(=) g.19362235G>A Copied from the Exome Variant Server PDHA1_000002 2/10297 1/6569 1/3728 - - - - - - -
?/? c.57+24G>T r.(=) p.(=) g.19362236G>T Copied from the Exome Variant Server PDHA1_000003 63/10288 1/6565 62/3723 - - - - - - -
?/? c.57+1599_57+1601del r.(=) p.(=) g.19363811_19363813del Copied from the Exome Variant Server PDHA1_000004 14/4925 8/3265 6/1660 - - - - - - -
?/? c.57+1651del r.(=) p.(=) g.19363863del Copied from the Exome Variant Server PDHA1_000005 368/4769 294/3187 74/1582 - - - - - - -
?/? c.57+1651_57+1652del r.(=) p.(=) g.19363863_19363864del Copied from the Exome Variant Server PDHA1_000006 441/4769 207/3187 234/1582 - - - - - - -
?/? c.57+1658_57+1659insG r.(=) p.(=) g.19363870_19363871insG Copied from the Exome Variant Server PDHA1_000007 8/4657 1/3111 7/1546 - - - - - - -
?/? c.57+1659C>T r.(=) p.(=) g.19363871C>T Copied from the Exome Variant Server PDHA1_000008 29/4513 0/3101 29/1412 - - - - - - -
?/? c.57+1663_57+1664del r.(=) p.(=) g.19363875_19363876del Copied from the Exome Variant Server PDHA1_000009 1316/4560 763/3050 553/1510 - - - - - - -
?/? c.57+1737C>A r.(=) p.(=) g.19363949C>A Copied from the Exome Variant Server PDHA1_000010 1/4516 1/3100 0/1416 - - - - - - -
?/? c.58-62A>G r.(=) p.(=) g.19367368A>G Copied from the Exome Variant Server PDHA1_000011 10/3593 0/2384 10/1209 - - - - - - -
?/? c.58-46G>C r.(=) p.(=) g.19367384G>C Copied from the Exome Variant Server PDHA1_000012 1/10557 1/6722 0/3835 - - - - - - -
?/? c.97G>C r.(?) p.(Asp33His) g.19367469G>C Copied from the Exome Variant Server PDHA1_000013 9/10563 0/6728 9/3835 - - - - - - -
?/? c.117+19T>A r.(=) p.(=) g.19367508T>A Copied from the Exome Variant Server PDHA1_000014 1/10561 0/6726 1/3835 - - - - - - -
?/? c.117+44_117+45del r.(=) p.(=) g.19367533_19367534del Copied from the Exome Variant Server PDHA1_000015 52/10200 0/6480 52/3720 - - - - - - -
?/? c.118-14_118-11del r.(=) p.(=) g.19368041_19368044del Copied from the Exome Variant Server PDHA1_000016 1/10205 1/6484 0/3721 - - - - - - -
?/? c.134G>A r.(?) p.(Arg45Gln) g.19368071G>A Copied from the Exome Variant Server PDHA1_000017 2/10563 0/6728 2/3835 - - - - - - -
?/? c.154G>A r.(?) p.(Val52Ile) g.19368091G>A Copied from the Exome Variant Server PDHA1_000018 1/10563 0/6728 1/3835 - - - - - - -
?/? c.170C>G r.(?) p.(Thr57Ser) g.19368107C>G Copied from the Exome Variant Server PDHA1_000019 1/10563 1/6728 0/3835 - - - - - - -
?/? c.252G>A r.(=) p.(=) g.19368189G>A Copied from the Exome Variant Server PDHA1_000020 3/10563 0/6728 3/3835 - - - - - - -
?/? c.291+49T>C r.(=) p.(=) g.19368277T>C Copied from the Exome Variant Server PDHA1_000021 4/10563 4/6728 0/3835 - - - - - - -
?/? c.291+52C>T r.(=) p.(=) g.19368280C>T Copied from the Exome Variant Server PDHA1_000022 356/6038 3/3621 353/2417 - - - - - - -
?/? c.292-48A>G r.(=) p.(=) g.19369351A>G Copied from the Exome Variant Server PDHA1_000023 9/10563 9/6728 0/3835 - - - - - - -
?/? c.292-9C>G r.(=) p.(=) g.19369390C>G Copied from the Exome Variant Server PDHA1_000024 1/10563 0/6728 1/3835 - - - - - - -
?/? c.292-5C>T r.spl? p.? g.19369394C>T Copied from the Exome Variant Server PDHA1_000025 1/10563 0/6728 1/3835 - - - - - - -
?/? c.406G>A r.(?) p.(Ala136Thr) g.19369513G>A Copied from the Exome Variant Server PDHA1_000026 1/10563 1/6728 0/3835 - - - - - - -
?/? c.507G>A r.(=) p.(=) g.19371288G>A Copied from the Exome Variant Server PDHA1_000027 11/10563 0/6728 11/3835 - - - - - - -
?/? c.510+12C>T r.(=) p.(=) g.19371303C>T Copied from the Exome Variant Server PDHA1_000028 42/10563 0/6728 42/3835 - - - - - - -
?/? c.511-54G>A r.(=) p.(=) g.19372555G>A Copied from the Exome Variant Server PDHA1_000029 3/3600 3/2391 0/1209 - - - - - - -
?/? c.511-48C>G r.(=) p.(=) g.19372561C>G Copied from the Exome Variant Server PDHA1_000030 8/10563 8/6728 0/3835 - - - - - - -
?/? c.603+26A>T r.(=) p.(=) g.19372727A>T Copied from the Exome Variant Server PDHA1_000031 2/10563 1/6728 1/3835 - - - - - - -
?/? c.603+43A>T r.(=) p.(=) g.19372744A>T Copied from the Exome Variant Server PDHA1_000032 1/10563 0/6728 1/3835 - - - - - - -
?/? c.603+45G>A r.(=) p.(=) g.19372746G>A Copied from the Exome Variant Server PDHA1_000033 2/10563 2/6728 0/3835 - - - - - - -
?/? c.604-23C>T r.(=) p.(=) g.19373444C>T Copied from the Exome Variant Server PDHA1_000034 1/10563 1/6728 0/3835 - - - - - - -
?/? c.604-15C>T r.(=) p.(=) g.19373452C>T Copied from the Exome Variant Server PDHA1_000035 439/10563 177/6728 262/3835 - - - - - - -
?/? c.604-14G>A r.(=) p.(=) g.19373453G>A Copied from the Exome Variant Server PDHA1_000036 3/10563 3/6728 0/3835 - - - - - - -
?/? c.604-10C>T r.(=) p.(=) g.19373457C>T Copied from the Exome Variant Server PDHA1_000037 8/10563 8/6728 0/3835 - - - - - - -
?/? c.693G>A r.(=) p.(=) g.19373556G>A Copied from the Exome Variant Server PDHA1_000038 6/10563 6/6728 0/3835 - - - - - - -
?/? c.697G>A r.(?) p.(Val233Ile) g.19373560G>A Copied from the Exome Variant Server PDHA1_000039 1/10563 0/6728 1/3835 - - - - - - -
?/? c.759+10C>G r.(=) p.(=) g.19373632C>G Copied from the Exome Variant Server PDHA1_000040 1/10563 0/6728 1/3835 - - - - - - -
?/? c.759+18G>A r.(=) p.(=) g.19373640G>A Copied from the Exome Variant Server PDHA1_000041 1/10562 1/6728 0/3834 - - - - - - -
?/? c.759+38G>A r.(=) p.(=) g.19373660G>A Copied from the Exome Variant Server PDHA1_000042 1/10563 1/6728 0/3835 - - - - - - -
?/? c.760-23G>A r.(=) p.(=) g.19373781G>A Copied from the Exome Variant Server PDHA1_000043 1/10563 1/6728 0/3835 - - - - - - -
?/? c.760-15C>A r.(=) p.(=) g.19373789C>A Copied from the Exome Variant Server PDHA1_000044 2761/10563 274/6728 2487/3835 - - - - - - -
?/? c.784G>A r.(?) p.(Val262Ile) g.19373828G>A Copied from the Exome Variant Server PDHA1_000045 1/10563 1/6728 0/3835 - - - - - - -
?/? c.795A>G r.(=) p.(=) g.19373839A>G Copied from the Exome Variant Server PDHA1_000047 3429/10563 278/6728 3151/3835 - - - - - - -
?/? c.798A>G r.(=) p.(=) g.19373842A>G Copied from the Exome Variant Server PDHA1_000049 28/10563 0/6728 28/3835 - - - - - - -
?/? c.831+15C>T r.(=) p.(=) g.19373890C>T Copied from the Exome Variant Server PDHA1_000051 47/10563 43/6728 4/3835 - - - - - - -
?/? c.832-60C>T r.(=) p.(=) g.19375710C>T Copied from the Exome Variant Server PDHA1_000053 916/3600 99/2391 817/1209 - - - - - - -
?/? c.844A>C r.(?) p.(Met282Leu) g.19375782A>C Copied from the Exome Variant Server PDHA1_000055 12/10563 4/6728 8/3835 - - - - - - -
?/? c.854A>G r.(?) p.(Gln285Arg) g.19375792A>G Copied from the Exome Variant Server PDHA1_000046 1/10563 1/6728 0/3835 - - - - - - -
?/? c.899+12G>A r.(=) p.(=) g.19375849G>A Copied from the Exome Variant Server PDHA1_000048 3/10563 3/6728 0/3835 - - - - - - -
?/? c.899+18G>A r.(=) p.(=) g.19375855G>A Copied from the Exome Variant Server PDHA1_000050 3/10563 3/6728 0/3835 - - - - - - -
?/? c.900-40C>A r.(=) p.(=) g.19376994C>A Copied from the Exome Variant Server PDHA1_000052 1/10563 1/6728 0/3835 - - - - - - -
?/? c.900-26C>A r.(=) p.(=) g.19377008C>A Copied from the Exome Variant Server PDHA1_000054 3/10563 0/6728 3/3835 - - - - - - -
?/? c.900-10C>A r.(=) p.(=) g.19377024C>A Copied from the Exome Variant Server PDHA1_000056 1/10563 1/6728 0/3835 - - - - - - -
?/? c.999A>C r.(?) p.(Glu333Asp) g.19377133A>C Copied from the Exome Variant Server PDHA1_000057 17/10563 0/6728 17/3835 - - - - - - -
?/? c.1008+39T>C r.(=) p.(=) g.19377181T>C Copied from the Exome Variant Server PDHA1_000058 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1008+51C>T r.(=) p.(=) g.19377193C>T Copied from the Exome Variant Server PDHA1_000059 57/10563 53/6728 4/3835 - - - - - - -
?/? c.1009-46G>C r.(=) p.(=) g.19377561G>C Copied from the Exome Variant Server PDHA1_000060 6/10563 0/6728 6/3835 - - - - - - -
?/? c.1009-40G>A r.(=) p.(=) g.19377567G>A Copied from the Exome Variant Server PDHA1_000061 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1009-23T>C r.(=) p.(=) g.19377584T>C Copied from the Exome Variant Server PDHA1_000062 2768/10563 274/6728 2494/3835 - - - - - - -
?/? c.1009-9A>C r.(=) p.(=) g.19377598A>C Copied from the Exome Variant Server PDHA1_000063 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1061C>T r.(?) p.(Thr354Met) g.19377659C>T Copied from the Exome Variant Server PDHA1_000064 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1062G>T r.(=) p.(=) g.19377660G>T Copied from the Exome Variant Server PDHA1_000065 3/10563 3/6728 0/3835 - - - - - - -
?/? c.1068T>C r.(=) p.(=) g.19377666T>C Copied from the Exome Variant Server PDHA1_000066 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1114G>A r.(?) p.(Asp372Asn) g.19377712G>A Copied from the Exome Variant Server PDHA1_000067 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1159A>C r.(?) p.(Lys387Gln) g.19377757A>C Copied from the Exome Variant Server PDHA1_000068 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1170T>C r.(=) p.(=) g.19377768T>C Copied from the Exome Variant Server PDHA1_000069 2/10563 0/6728 2/3835 - - - - - - -
?/? c.*8_*10del r.(=) p.(=) g.19377779_19377781del Copied from the Exome Variant Server PDHA1_000070 12/10203 0/6484 12/3719 - - - - - - -
?/? c.*16A>C r.(=) p.(=) g.19377787A>C Copied from the Exome Variant Server PDHA1_000071 2/10563 0/6728 2/3835 - - - - - - -
?/? c.*1059G>A r.(=) p.(=) g.19378830G>A Copied from the Exome Variant Server PDHA1_000072 2762/10563 274/6728 2488/3835 - - - - - - -
?/? c.*1129A>G r.(=) p.(=) g.19378900A>G Copied from the Exome Variant Server PDHA1_000073 42/10563 0/6728 42/3835 - - - - - - -
?/? c.*1132C>G r.(?) p.(Arg1302Ser) g.19378903C>G Copied from the Exome Variant Server PDHA1_000074 2/10563 2/6728 0/3835 - - - - - - -
?/? c.*1152C>T r.(?) p.(Ala1296Thr) g.19378923C>T Copied from the Exome Variant Server PDHA1_000075 1/10563 1/6728 0/3835 - - - - - - -
?/? c.*1192_*1193del r.(=) p.(=) g.19378963_19378964del Copied from the Exome Variant Server PDHA1_000076 99/10203 88/6482 11/3721 - - - - - - -
?/? c.*1208A>C r.(=) p.(=) g.19378979A>C Copied from the Exome Variant Server PDHA1_000077 27/10563 25/6728 2/3835 - - - - - - -
?/? c.*1209G>A r.(=) p.(=) g.19378980G>A Copied from the Exome Variant Server PDHA1_000078 1/10563 1/6728 0/3835 - - - - - - -
?/? c.*1648G>A r.(=) p.(=) g.19379419G>A Copied from the Exome Variant Server PDHA1_000079 2/10562 0/6727 2/3835 - - - - - - -
?/? c.*1662T>C r.(=) p.(=) g.19379433T>C Copied from the Exome Variant Server PDHA1_000080 1/10562 1/6727 0/3835 - - - - - - -
?/? c.*1682T>C r.(=) p.(=) g.19379453T>C Copied from the Exome Variant Server PDHA1_000081 109/10563 62/6728 47/3835 - - - - - - -
?/? c.*1685C>G r.(=) p.(=) g.19379456C>G Copied from the Exome Variant Server PDHA1_000082 1/10563 1/6728 0/3835 - - - - - - -
?/? c.*1693G>A r.(?) p.(Arg1284*) g.19379464G>A Copied from the Exome Variant Server PDHA1_000083 1/10563 1/6728 0/3835 - - - - - - -
?/? c.*1704A>G r.(?) p.(Leu1280Pro) g.19379475A>G Copied from the Exome Variant Server PDHA1_000084 1/10563 0/6728 1/3835 - - - - - - -
?/? c.*1717T>G r.(?) p.(Thr1276Pro) g.19379488T>G Copied from the Exome Variant Server PDHA1_000085 2/10563 2/6728 0/3835 - - - - - - -
?/? c.*1736C>T r.(=) p.(=) g.19379507C>T Copied from the Exome Variant Server PDHA1_000086 3/10563 0/6728 3/3835 - - - - - - -
?/? c.*1742T>G r.(=) p.(=) g.19379513T>G Copied from the Exome Variant Server PDHA1_000087 1/10563 1/6728 0/3835 - - - - - - -
?/? c.*1750C>T r.(?) p.(Gly1265Ser) g.19379521C>T Copied from the Exome Variant Server PDHA1_000088 1/10563 1/6728 0/3835 - - - - - - -
?/? c.*1795C>T r.(=) p.(=) g.19379566C>T Copied from the Exome Variant Server PDHA1_000089 1/10563 1/6728 0/3835 - - - - - - -
?/? c.*1869G>C r.(?) p.(Gln1251Glu) g.19379640G>C Copied from the Exome Variant Server PDHA1_000090 57/10563 52/6728 5/3835 - - - - - - -
?/? c.*1911C>T r.(?) p.(Gly1237Arg) g.19379682C>T Copied from the Exome Variant Server PDHA1_000091 1/10563 0/6728 1/3835 - - - - - - -
?/? c.*1912G>T r.(?) p.(Tyr1236*) g.19379683G>T Copied from the Exome Variant Server PDHA1_000092 1/10563 1/6728 0/3835 - - - - - - -
?/? c.*1916G>C r.(?) p.(Pro1235Arg) g.19379687G>C Copied from the Exome Variant Server PDHA1_000093 1/10563 0/6728 1/3835 - - - - - - -
?/? c.*1971G>T r.(=) p.(=) g.19379742G>T Copied from the Exome Variant Server PDHA1_000094 2/10557 1/6724 1/3833 - - - - - - -
?/? c.*1982A>C r.(=) p.(=) g.19379753A>C Copied from the Exome Variant Server PDHA1_000095 2/10551 1/6718 1/3833 - - - - - - -
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