All transcript variants in gene HLF

Information The variants shown are described using the NM_002126.4 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-50_-49insTTTC r.(=) p.(=) g.53342796_53342797insTTTC Copied from the Exome Variant Server HLF_000001 8414/12126 5571/8038 2843/4088
?/? c.-50_-49insTTTT r.(=) p.(=) g.53342796_53342797insTTTT Copied from the Exome Variant Server HLF_000002 316/12126 183/8038 133/4088
?/? c.-6A>T r.(=) p.(=) g.53342840A>T Copied from the Exome Variant Server HLF_000003 1/13004 0/8598 1/4406
?/? c.70T>A r.(?) p.(Ser24Thr) g.53342915T>A Copied from the Exome Variant Server HLF_000004 1/13006 1/8600 0/4406
?/? c.75G>A r.(=) p.(=) g.53342920G>A Copied from the Exome Variant Server HLF_000005 84/13006 78/8600 6/4406
?/? c.88C>T r.(=) p.(=) g.53342933C>T Copied from the Exome Variant Server HLF_000006 48/13006 0/8600 48/4406
?/? c.116-49_116-45del r.(=) p.(=) g.53345063_53345067del Copied from the Exome Variant Server HLF_000007 5/12378 1/8200 4/4178
?/? c.144G>T r.(?) p.(Lys48Asn) g.53345140G>T Copied from the Exome Variant Server HLF_000008 1/13006 1/8600 0/4406
?/? c.174G>A r.(=) p.(=) g.53345170G>A Copied from the Exome Variant Server HLF_000009 3/13006 0/8600 3/4406
?/? c.279A>G r.(=) p.(=) g.53345275A>G Copied from the Exome Variant Server HLF_000010 1/13006 0/8600 1/4406
?/? c.299G>C r.(?) p.(Ser100Thr) g.53345295G>C Copied from the Exome Variant Server HLF_000011 2/13006 0/8600 2/4406
?/? c.333T>C r.(=) p.(=) g.53345329T>C Copied from the Exome Variant Server HLF_000012 2/13006 0/8600 2/4406
?/? c.335G>T r.(?) p.(Gly112Val) g.53345331G>T Copied from the Exome Variant Server HLF_000013 2/13006 0/8600 2/4406
?/? c.354G>A r.(=) p.(=) g.53345350G>A Copied from the Exome Variant Server HLF_000014 1/13006 1/8600 0/4406
?/? c.365C>T r.(?) p.(Ser122Leu) g.53345361C>T Copied from the Exome Variant Server HLF_000015 1/13006 1/8600 0/4406
?/? c.366G>A r.(=) p.(=) g.53345362G>A Copied from the Exome Variant Server HLF_000016 5/13006 4/8600 1/4406
?/? c.423G>A r.(=) p.(=) g.53345419G>A Copied from the Exome Variant Server HLF_000017 1/13006 1/8600 0/4406
?/? c.451+3A>G r.spl? p.? g.53345450A>G Copied from the Exome Variant Server HLF_000018 1/13006 0/8600 1/4406
?/? c.451+17T>G r.(=) p.(=) g.53345464T>G Copied from the Exome Variant Server HLF_000019 6/13006 0/8600 6/4406
?/? c.452-50A>G r.(=) p.(=) g.53392538A>G Copied from the Exome Variant Server HLF_000020 1/12998 1/8594 0/4404
?/? c.452-44T>C r.(=) p.(=) g.53392544T>C Copied from the Exome Variant Server HLF_000021 624/13002 402/8596 222/4406
?/? c.452-35G>A r.(=) p.(=) g.53392553G>A Copied from the Exome Variant Server HLF_000022 1/13004 0/8598 1/4406
?/? c.452-15C>T r.(=) p.(=) g.53392573C>T Copied from the Exome Variant Server HLF_000023 9/13006 0/8600 9/4406
?/? c.466G>T r.(?) p.(Ala156Ser) g.53392602G>T Copied from the Exome Variant Server HLF_000024 3/13006 3/8600 0/4406
?/? c.559A>G r.(?) p.(Ile187Val) g.53392695A>G Copied from the Exome Variant Server HLF_000026 3/13006 3/8600 0/4406
?/? c.574A>G r.(?) p.(Met192Val) g.53392710A>G Copied from the Exome Variant Server HLF_000025 1/13006 1/8600 0/4406
?/? c.576G>A r.(?) p.(Met192Ile) g.53392712G>A Copied from the Exome Variant Server HLF_000027 1/13006 0/8600 1/4406
?/? c.591A>G r.(=) p.(=) g.53392727A>G Copied from the Exome Variant Server HLF_000028 1/13006 1/8600 0/4406
?/? c.592C>T r.(?) p.(Arg198Cys) g.53392728C>T Copied from the Exome Variant Server HLF_000029 2/13006 0/8600 2/4406
?/? c.600C>T r.(=) p.(=) g.53392736C>T Copied from the Exome Variant Server HLF_000030 2/13006 2/8600 0/4406
?/? c.660T>C r.(=) p.(=) g.53392796T>C Copied from the Exome Variant Server HLF_000031 174/13006 0/8600 174/4406
?/? c.672+23T>C r.(=) p.(=) g.53392831T>C Copied from the Exome Variant Server HLF_000032 40/13006 37/8600 3/4406
?/? c.672+44G>A r.(=) p.(=) g.53392852G>A Copied from the Exome Variant Server HLF_000033 5761/13006 3192/8600 2569/4406
?/? c.673-28C>A r.(=) p.(=) g.53397997C>A Copied from the Exome Variant Server HLF_000034 1/12992 0/8588 1/4404
?/? c.794C>T r.(?) p.(Ser265Leu) g.53398146C>T Copied from the Exome Variant Server HLF_000035 1/13000 1/8596 0/4404
?/? c.862T>C r.(?) p.(Tyr288His) g.53398214T>C Copied from the Exome Variant Server HLF_000036 1/13006 0/8600 1/4406
?/? c.*20G>C r.(=) p.(=) g.53398260G>C Copied from the Exome Variant Server HLF_000037 1/13006 1/8600 0/4406
?/? c.*43T>A r.(=) p.(=) g.53398283T>A Copied from the Exome Variant Server HLF_000038 1/13002 1/8596 0/4406
?/? c.*44G>T r.(=) p.(=) g.53398284G>T Copied from the Exome Variant Server HLF_000039 6/13002 6/8596 0/4406
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