Unique variants in gene ADH1A

Information The variants shown are described using the NM_000667.3 transcript reference sequence.

61 entries on 1 page. Showing entries 1 - 61.
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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.-17G>T r.(=) p.(=) g.100212088C>A Copied from the Exome Variant Server ADH1A_000061 2/13006 0/8600 2/4406
1 c.-11A>G r.(=) p.(=) g.100212082T>C Copied from the Exome Variant Server ADH1A_000060 1/13006 1/8600 0/4406
1 c.18+8_18+9insGCAA r.(=) p.(=) g.100212045_100212046insTTGC Copied from the Exome Variant Server ADH1A_000059 2/12520 2/8254 0/4266
1 c.18+64A>G r.(=) p.(=) g.100211990T>C Copied from the Exome Variant Server ADH1A_000058 23/4566 0/3182 23/1384
1 c.18+91T>C r.(=) p.(=) g.100211963A>G Copied from the Exome Variant Server ADH1A_000057 1/4564 1/3180 0/1384
1 c.19-24C>T r.(=) p.(=) g.100208846G>A Copied from the Exome Variant Server ADH1A_000056 14/13006 0/8600 14/4406
1 c.19-12T>G r.(=) p.(=) g.100208834A>C Copied from the Exome Variant Server ADH1A_000055 1/13006 0/8600 1/4406
1 c.91C>T r.(?) p.(Pro31Ser) g.100208750G>A Copied from the Exome Variant Server ADH1A_000054 1/13006 1/8600 0/4406
1 c.113G>A r.(?) p.(Arg38His) g.100208728C>T Copied from the Exome Variant Server ADH1A_000053 1/13006 0/8600 1/4406
1 c.120+41T>C r.(=) p.(=) g.100208680A>G Copied from the Exome Variant Server ADH1A_000052 1/12968 0/8590 1/4378
1 c.121-35C>G r.(=) p.(=) g.100208180G>C Copied from the Exome Variant Server ADH1A_000051 6/13006 0/8600 6/4406
1 c.121-3T>C r.spl? p.? g.100208148A>G Copied from the Exome Variant Server ADH1A_000050 15/13006 0/8600 15/4406
1 c.169A>G r.(?) p.(Thr57Ala) g.100208097T>C Copied from the Exome Variant Server ADH1A_000049 1/13006 0/8600 1/4406
1 c.213C>T r.(=) p.(=) g.100208053G>A Copied from the Exome Variant Server ADH1A_000048 1/13006 1/8600 0/4406
1 c.220G>A r.(?) p.(Val74Met) g.100208046C>T Copied from the Exome Variant Server ADH1A_000047 1/13006 1/8600 0/4406
1 c.227G>A r.(?) p.(Ser76Asn) g.100208039C>T Copied from the Exome Variant Server ADH1A_000046 1/13002 1/8596 0/4406
1 c.245C>T r.(?) p.(Thr82Ile) g.100208021G>A Copied from the Exome Variant Server ADH1A_000045 1/13006 0/8600 1/4406
1 c.259+35A>G r.(=) p.(=) g.100207972T>C Copied from the Exome Variant Server ADH1A_000044 1/13006 1/8600 0/4406
1 c.279C>A r.(=) p.(=) g.100205941G>T Copied from the Exome Variant Server ADH1A_000043 2/13006 2/8600 0/4406
1 c.333C>T r.(=) p.(=) g.100205887G>A Copied from the Exome Variant Server ADH1A_000042 52/13006 0/8600 52/4406
1 c.347+24C>T r.(=) p.(=) g.100205849G>A Copied from the Exome Variant Server ADH1A_000040 1/13006 0/8600 1/4406
1 c.347+32T>C r.(=) p.(=) g.100205841A>G Copied from the Exome Variant Server ADH1A_000038 1/13006 0/8600 1/4406
1 c.347+44A>C r.(=) p.(=) g.100205829T>G Copied from the Exome Variant Server ADH1A_000036 3762/13006 3300/8600 462/4406
1 c.348-46T>C r.(=) p.(=) g.100205821A>G Copied from the Exome Variant Server ADH1A_000034 1/13006 0/8600 1/4406
1 c.348-44G>T r.(=) p.(=) g.100205819C>A Copied from the Exome Variant Server ADH1A_000041 3761/13006 3299/8600 462/4406
1 c.368C>A r.(?) p.(Thr123Asn) g.100205755G>T Copied from the Exome Variant Server ADH1A_000039 4/13006 0/8600 4/4406
1 c.387C>G r.(?) p.(Ser129Arg) g.100205736G>C Copied from the Exome Variant Server ADH1A_000037 1/13006 1/8600 0/4406
1 c.450C>T r.(=) p.(=) g.100205673G>A Copied from the Exome Variant Server ADH1A_000035 2/13006 2/8600 0/4406
1 c.482T>C r.(?) p.(Ile161Thr) g.100205641A>G Copied from the Exome Variant Server ADH1A_000033 3/13006 0/8600 3/4406
1 c.517A>G r.(?) p.(Ile173Val) g.100205606T>C Copied from the Exome Variant Server ADH1A_000032 2/13006 0/8600 2/4406
1 c.567+8T>C r.(=) p.(=) g.100205548A>G Copied from the Exome Variant Server ADH1A_000031 1/13006 1/8600 0/4406
1 c.567+31T>A r.(=) p.(=) g.100205525A>T Copied from the Exome Variant Server ADH1A_000030 21/13006 0/8600 21/4406
1 c.567+36G>A r.(=) p.(=) g.100205520C>T Copied from the Exome Variant Server ADH1A_000029 1/13006 1/8600 0/4406
1 c.596T>C r.(?) p.(Phe199Ser) g.100203735A>G Copied from the Exome Variant Server ADH1A_000028 4/13006 0/8600 4/4406
1 c.613G>A r.(?) p.(Gly205Ser) g.100203718C>T Copied from the Exome Variant Server ADH1A_000027 1/13006 0/8600 1/4406
1 c.631G>A r.(?) p.(Gly211Ser) g.100203700C>T Copied from the Exome Variant Server ADH1A_000026 3/13006 0/8600 3/4406
1 c.666G>A r.(=) p.(=) g.100203665C>T Copied from the Exome Variant Server ADH1A_000025 28/13006 0/8600 28/4406
1 c.695del r.(?) p.(Lys232Argfs*24) g.100203636del Copied from the Exome Variant Server ADH1A_000024 1/12520 1/8254 0/4266
1 c.780T>C r.(=) p.(=) g.100203551A>G Copied from the Exome Variant Server ADH1A_000023 1/13006 1/8600 0/4406
1 c.796T>A r.(?) p.(Ser266Thr) g.100203535A>T Copied from the Exome Variant Server ADH1A_000022 8/13006 0/8600 8/4406
1 c.798A>C r.(=) p.(=) g.100203533T>G Copied from the Exome Variant Server ADH1A_000021 1/13006 1/8600 0/4406
1 c.828+22G>A r.(=) p.(=) g.100203481C>T Copied from the Exome Variant Server ADH1A_000020 28/13006 0/8600 28/4406
1 c.829-49G>C r.(=) p.(=) g.100201485C>G Copied from the Exome Variant Server ADH1A_000019 1/13006 1/8600 0/4406
1 c.829-41C>T r.(=) p.(=) g.100201477G>A Copied from the Exome Variant Server ADH1A_000018 190/13006 146/8600 44/4406
1 c.829-22C>T r.(=) p.(=) g.100201458G>A Copied from the Exome Variant Server ADH1A_000017 1/13006 1/8600 0/4406
1 c.879A>G r.(=) p.(=) g.100201386T>C Copied from the Exome Variant Server ADH1A_000016 1/13006 0/8600 1/4406
1 c.880G>T r.(?) p.(Gly294Trp) g.100201385C>A Copied from the Exome Variant Server ADH1A_000015 3/13006 3/8600 0/4406
1 c.881G>A r.(?) p.(Gly294Glu) g.100201384C>T Copied from the Exome Variant Server ADH1A_000014 1/13006 1/8600 0/4406
1 c.900A>G r.(=) p.(=) g.100201365T>C Copied from the Exome Variant Server ADH1A_000013 43/13006 0/8600 43/4406
1 c.919A>G r.(?) p.(Met307Val) g.100201346T>C Copied from the Exome Variant Server ADH1A_000012 1/13006 0/8600 1/4406
1 c.964+6T>C r.(=) p.(=) g.100201295A>G Copied from the Exome Variant Server ADH1A_000011 138/13006 127/8600 11/4406
1 c.965-29A>G r.(=) p.(=) g.100200750T>C Copied from the Exome Variant Server ADH1A_000010 1/13002 1/8596 0/4406
1 c.1044C>T r.(=) p.(=) g.100200642G>A Copied from the Exome Variant Server ADH1A_000009 1/13002 0/8596 1/4406
1 c.1086G>A r.(=) p.(=) g.100200600C>T Copied from the Exome Variant Server ADH1A_000008 1/13006 1/8600 0/4406
1 c.1103+11_1103+12insT r.(=) p.(=) g.100200571_100200572insA Copied from the Exome Variant Server ADH1A_000007 154/12520 142/8254 12/4266
1 c.1103+38_1103+39insT r.(=) p.(=) g.100200544_100200545insA Copied from the Exome Variant Server ADH1A_000006 10/12510 7/8246 3/4264
1 c.1104-93_1104-90del r.(=) p.(=) g.100197895_100197898del Copied from the Exome Variant Server ADH1A_000005 1/12520 1/8254 0/4266
1 c.1104-67G>T r.(=) p.(=) g.100197872C>A Copied from the Exome Variant Server ADH1A_000004 6/4566 5/3182 1/1384
1 c.1104-41T>C r.(=) p.(=) g.100197846A>G Copied from the Exome Variant Server ADH1A_000003 1/13006 0/8600 1/4406
1 c.1119G>A r.(=) p.(=) g.100197790C>T Copied from the Exome Variant Server ADH1A_000002 1/13006 0/8600 1/4406
1 c.*50A>G r.(=) p.(=) g.100197731T>C Copied from the Exome Variant Server ADH1A_000001 1/13006 0/8600 1/4406
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