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Patched Variants

Index ID Position Refna Regna AlleleType NAChange AAChange Locus Phenotype Ethnicity
1 20100804015 896 A G polymorphism A-G rRNA MT-RNR1
2 20110503002 960 C A polymorphism C-A rRNA MT-RNR1 Congenital Non-syndromic Deafness
3 20060913001 961 T A polymorphism T-A rRNA MT-RNR1 Deafness Russian
4 20110302015 1011 C A polymorphism C-A rRNA MT-RNR1 combined complex I + IV deficiency
5 20110302018 1886 G A polymorphism G-A rRNA MT-RNR2 combined complex I + IV deficiency, Mitochondrial Myopathy
6 20041220003 2644 A G polymorphism A-G rRNA MT-RNR2 Oral Cancer Asian Indian-Marathi
7 20010828006 3160 A T polymorphism A-T noncod MT-RNR2 Sporadic Parathyroid Adenoma -
8 20070709002 1557 A C polymorphism A-C rRNA MT-RNR1 Deafness Russian
9 20160806001 8923 ACACCT del deletion ACACCT-del truncation ATP6 Iranian
10 20160806002 8539 C A polymorphism C-A ATP6: L-M, ATP8: I-M ATP8, ATP6 presbycusis Iranian
11 20160806003 8682 A G polymorphism A-G sym ATP6 presbycusis Iranian
12 20160806004 96 C A polymorphism C-A CR:HVS2 Iranian
13 20160806005 15864 A G polymorphism A-G E-G CYB Iranian
14 20160806006 15906 A T polymorphism A-T tRNA.T Iranian
15 20160806007 16046 T G polymorphism T-G CR:HVS1/HV1 Iranian
16 20161022001 1147 G A polymorphism G-A RNR1 hearing loss Iranian
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Topic revision: r1 - 18 Oct 2022, UnknownUser
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