All transcript variants in gene HMGA1

Information The variants shown are described using the NM_145899.2 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-30_-29del r.(=) p.(=) g.34208528_34208529del Copied from the Exome Variant Server HMGA1_000001 12/12514 10/8252 2/4262
?/? c.12G>A r.(=) p.(=) g.34208569G>A Copied from the Exome Variant Server HMGA1_000002 2/13006 2/8600 0/4406
?/? c.18G>T r.(=) p.(=) g.34208575G>T Copied from the Exome Variant Server HMGA1_000003 1/13006 1/8600 0/4406
?/? c.57C>T r.(=) p.(=) g.34208614C>T Copied from the Exome Variant Server HMGA1_000004 124/13006 29/8600 95/4406
?/? c.58G>A r.(?) p.(Gly20Ser) g.34208615G>A Copied from the Exome Variant Server HMGA1_000005 1/13006 1/8600 0/4406
?/? c.102G>A r.(=) p.(=) g.34208659G>A Copied from the Exome Variant Server HMGA1_000006 3/13002 2/8596 1/4406
?/? c.111C>T r.(=) p.(=) g.34208668C>T Copied from the Exome Variant Server HMGA1_000007 25/13004 0/8598 25/4406
?/? c.135+20C>G r.(=) p.(=) g.34208712C>G Copied from the Exome Variant Server HMGA1_000008 1/12990 0/8588 1/4402
?/? c.135+26T>G r.(=) p.(=) g.34208718T>G Copied from the Exome Variant Server HMGA1_000009 85/12986 0/8586 85/4400
?/? c.135+34C>T r.(=) p.(=) g.34208726C>T Copied from the Exome Variant Server HMGA1_000010 1/12976 0/8578 1/4398
?/? c.135+36C>G r.(=) p.(=) g.34208728C>G Copied from the Exome Variant Server HMGA1_000011 1/12974 0/8576 1/4398
?/? c.135+51G>C r.(=) p.(=) g.34208743G>C Copied from the Exome Variant Server HMGA1_000012 19/12958 0/8570 19/4388
?/? c.136-19_136-18insC r.(=) p.(=) g.34210470_34210471insC Copied from the Exome Variant Server HMGA1_000013 482/12438 253/8204 229/4234
?/? c.136-14_136-13del r.(=) p.(=) g.34210475_34210476del Copied from the Exome Variant Server HMGA1_000014 41/12444 25/8206 16/4238
?/? c.136-13del r.(=) p.(=) g.34210476del Copied from the Exome Variant Server HMGA1_000015 28/12446 19/8208 9/4238
?/? c.141G>A r.(=) p.(=) g.34210494G>A Copied from the Exome Variant Server HMGA1_000016 2/12962 0/8572 2/4390
?/? c.192C>T r.(=) p.(=) g.34210545C>T Copied from the Exome Variant Server HMGA1_000018 1/12976 0/8582 1/4394
?/? c.219+43G>C r.(=) p.(=) g.34210615G>C Copied from the Exome Variant Server HMGA1_000020 1/12884 1/8528 0/4356
?/? c.220-60G>A r.(=) p.(=) g.34211185G>A Copied from the Exome Variant Server HMGA1_000022 1/4566 0/3182 1/1384
?/? c.220-7C>T r.(=) p.(=) g.34211238C>T Copied from the Exome Variant Server HMGA1_000024 407/13004 372/8600 35/4404
?/? c.270+23G>C r.(=) p.(=) g.34211318G>C Copied from the Exome Variant Server HMGA1_000026 6/13006 5/8600 1/4406
?/? c.270+37C>T r.(=) p.(=) g.34211332C>T Copied from the Exome Variant Server HMGA1_000027 1/13006 1/8600 0/4406
?/? c.270+47del r.(=) p.(=) g.34211342del Copied from the Exome Variant Server HMGA1_000028 10913/12518 7927/8254 2986/4264
?/? c.270+67G>A r.(=) p.(=) g.34211362G>A Copied from the Exome Variant Server HMGA1_000029 1/4566 1/3182 0/1384
?/? c.271-71_271-70insG r.(=) p.(=) g.34212537_34212538insG Copied from the Exome Variant Server HMGA1_000030 418/11918 335/7888 83/4030
?/? c.271-45G>C r.(=) p.(=) g.34212563G>C Copied from the Exome Variant Server HMGA1_000017 3/12880 3/8522 0/4358
?/? c.285G>A r.(=) p.(=) g.34212622G>A Copied from the Exome Variant Server HMGA1_000019 2/12974 2/8586 0/4388
?/? c.296C>T r.(?) p.(Ser99Leu) g.34212633C>T Copied from the Exome Variant Server HMGA1_000021 2/12966 0/8578 2/4388
?/? c.309G>A r.(=) p.(=) g.34212646G>A Copied from the Exome Variant Server HMGA1_000023 1/12954 1/8572 0/4382
?/? c.*8G>C r.(=) p.(=) g.34212669G>C Copied from the Exome Variant Server HMGA1_000025 1/12924 1/8548 0/4376
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