Unique variants in gene PCYT1B

Information The variants shown are described using the NM_004845.4 transcript reference sequence.

49 entries on 1 page. Showing entries 1 - 49.
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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.-51C>T r.(=) p.(=) g.24665273G>A Copied from the Exome Variant Server PCYT1B_000049 1711/10563 1420/6728 291/3835
1 c.4C>G r.(?) p.(Pro2Ala) g.24665219G>C Copied from the Exome Variant Server PCYT1B_000048 1/10563 0/6728 1/3835
1 c.58A>G r.(?) p.(Asn20Asp) g.24665165T>C Copied from the Exome Variant Server PCYT1B_000047 21/10563 0/6728 21/3835
1 c.61G>A r.(?) p.(Glu21Lys) g.24665162C>T Copied from the Exome Variant Server PCYT1B_000046 6/10563 0/6728 6/3835
1 c.118-39T>C r.(=) p.(=) g.24637240A>G Copied from the Exome Variant Server PCYT1B_000045 45/10563 1/6728 44/3835
1 c.118-21C>T r.(=) p.(=) g.24637222G>A Copied from the Exome Variant Server PCYT1B_000044 1/10563 1/6728 0/3835
1 c.123G>A r.(=) p.(=) g.24637196C>T Copied from the Exome Variant Server PCYT1B_000043 1/10562 1/6727 0/3835
1 c.126T>G r.(=) p.(=) g.24637193A>C Copied from the Exome Variant Server PCYT1B_000042 1484/10562 117/6727 1367/3835
1 c.217+36T>C r.(=) p.(=) g.24637066A>G Copied from the Exome Variant Server PCYT1B_000041 2/10562 2/6727 0/3835
1 c.217+41A>G r.(=) p.(=) g.24637061T>C Copied from the Exome Variant Server PCYT1B_000040 1/10560 0/6725 1/3835
1 c.218-5C>T r.spl? p.? g.24625983G>A Copied from the Exome Variant Server PCYT1B_000039 37/10563 1/6728 36/3835
1 c.334+32A>G r.(=) p.(=) g.24625830T>C Copied from the Exome Variant Server PCYT1B_000038 1/10563 1/6728 0/3835
1 c.334+43G>A r.(=) p.(=) g.24625819C>T Copied from the Exome Variant Server PCYT1B_000036 1519/10561 8/6728 1511/3833
1 c.351C>G r.(=) p.(=) g.24608275G>C Copied from the Exome Variant Server PCYT1B_000034 1/10563 0/6728 1/3835
1 c.390C>T r.(=) p.(=) g.24608236G>A Copied from the Exome Variant Server PCYT1B_000032 1/10563 0/6728 1/3835
1 c.411A>G r.(=) p.(=) g.24608215T>C Copied from the Exome Variant Server PCYT1B_000030 1/10563 0/6728 1/3835
1 c.462G>A r.(=) p.(=) g.24608164C>T Copied from the Exome Variant Server PCYT1B_000028 1/10563 1/6728 0/3835
1 c.486+20A>C r.(=) p.(=) g.24608120T>G Copied from the Exome Variant Server PCYT1B_000037 1/10563 1/6728 0/3835
1 c.486+34A>G r.(=) p.(=) g.24608106T>C Copied from the Exome Variant Server PCYT1B_000035 28/10563 0/6728 28/3835
1 c.486+48T>C r.(=) p.(=) g.24608092A>G Copied from the Exome Variant Server PCYT1B_000033 8/10563 6/6728 2/3835
1 c.487-21A>C r.(=) p.(=) g.24605457T>G Copied from the Exome Variant Server PCYT1B_000031 1/10563 1/6728 0/3835
1 c.487-9_487-8del r.(=) p.(=) g.24605444_24605445del Copied from the Exome Variant Server PCYT1B_000029 1/10205 1/6484 0/3721
1 c.516G>T r.(=) p.(=) g.24605407C>A Copied from the Exome Variant Server PCYT1B_000027 15/10563 15/6728 0/3835
1 c.565+11C>T r.(=) p.(=) g.24605347G>A Copied from the Exome Variant Server PCYT1B_000026 6/10563 2/6728 4/3835
1 c.565+31C>G r.(=) p.(=) g.24605327G>C Copied from the Exome Variant Server PCYT1B_000025 6/10563 2/6728 4/3835
1 c.565+37C>G r.(=) p.(=) g.24605321G>C Copied from the Exome Variant Server PCYT1B_000024 9/10563 0/6728 9/3835
1 c.566-43T>C r.(=) p.(=) g.24597618A>G Copied from the Exome Variant Server PCYT1B_000023 4/10563 4/6728 0/3835
1 c.566-21C>T r.(=) p.(=) g.24597596G>A Copied from the Exome Variant Server PCYT1B_000022 11/10563 0/6728 11/3835
1 c.566-20G>A r.(=) p.(=) g.24597595C>T Copied from the Exome Variant Server PCYT1B_000021 20/10563 17/6728 3/3835
1 c.574G>T r.(?) p.(Val192Phe) g.24597567C>A Copied from the Exome Variant Server PCYT1B_000020 1/10563 1/6728 0/3835
1 c.582G>A r.(=) p.(=) g.24597559C>T Copied from the Exome Variant Server PCYT1B_000019 1/10563 1/6728 0/3835
1 c.596G>A r.(?) p.(Gly199Asp) g.24597545C>T Copied from the Exome Variant Server PCYT1B_000018 1/10563 0/6728 1/3835
1 c.660C>T r.(=) p.(=) g.24597481G>A Copied from the Exome Variant Server PCYT1B_000017 1/10563 0/6728 1/3835
1 c.789T>C r.(=) p.(=) g.24593355A>G Copied from the Exome Variant Server PCYT1B_000016 3/10563 3/6728 0/3835
1 c.879T>C r.(=) p.(=) g.24593265A>G Copied from the Exome Variant Server PCYT1B_000015 1/10563 1/6728 0/3835
1 c.897+22C>T r.(=) p.(=) g.24593225G>A Copied from the Exome Variant Server PCYT1B_000014 1/10563 1/6728 0/3835
1 c.897+26A>G r.(=) p.(=) g.24593221T>C Copied from the Exome Variant Server PCYT1B_000013 12/10563 0/6728 12/3835
1 c.897+38G>A r.(=) p.(=) g.24593209C>T Copied from the Exome Variant Server PCYT1B_000012 1/10563 1/6728 0/3835
1 c.897+51C>T r.(=) p.(=) g.24593196G>A Copied from the Exome Variant Server PCYT1B_000011 12/10563 0/6728 12/3835
1 c.898-39G>C r.(=) p.(=) g.24580661C>G Copied from the Exome Variant Server PCYT1B_000010 4/10493 3/6682 1/3811
1 c.915G>A r.(=) p.(=) g.24580605C>T Copied from the Exome Variant Server PCYT1B_000009 1/10563 0/6728 1/3835
1 c.1035C>T r.(=) p.(=) g.24580485G>A Copied from the Exome Variant Server PCYT1B_000008 1/10562 1/6727 0/3835
1 c.1041C>T r.(=) p.(=) g.24580479G>A Copied from the Exome Variant Server PCYT1B_000007 9/10562 9/6727 0/3835
1 c.*20G>A r.(=) p.(=) g.24580390C>T Copied from the Exome Variant Server PCYT1B_000006 1/10551 0/6724 1/3827
1 c.*22C>T r.(=) p.(=) g.24580388G>A Copied from the Exome Variant Server PCYT1B_000005 3/10548 3/6721 0/3827
1 c.*48C>T r.(=) p.(=) g.24580362G>A Copied from the Exome Variant Server PCYT1B_000004 1/10546 0/6719 1/3827
1 c.*169C>T r.(=) p.(=) g.24580241G>A Copied from the Exome Variant Server PCYT1B_000003 4/8125 0/5498 4/2627
1 c.*190G>A r.(=) p.(=) g.24580220C>T Copied from the Exome Variant Server PCYT1B_000002 2/8125 2/5498 0/2627
1 c.*208G>A r.(=) p.(=) g.24580202C>T Copied from the Exome Variant Server PCYT1B_000001 1/8125 1/5498 0/2627
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