All transcript variants in gene PIN4

Information The variants shown are described using the NM_006223.3 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.34C>G r.(?) p.(Arg12Gly) g.71401594C>G Copied from the Exome Variant Server PIN4_000001 2/10563 0/6728 2/3835
?/? c.41T>G r.(?) p.(Leu14Arg) g.71401601T>G Copied from the Exome Variant Server PIN4_000002 2/10563 0/6728 2/3835
?/? c.47G>A r.(?) p.(Arg16Gln) g.71401607G>A Copied from the Exome Variant Server PIN4_000003 8898/10563 6480/6728 2418/3835
?/? c.54C>A r.(?) p.(Ser18Arg) g.71401614C>A Copied from the Exome Variant Server PIN4_000004 8899/10563 6481/6728 2418/3835
?/? c.60A>G r.(=) p.(=) g.71401620A>G Copied from the Exome Variant Server PIN4_000005 18/10563 14/6728 4/3835
?/? c.110C>A r.(?) p.(Ala37Glu) g.71401670C>A Copied from the Exome Variant Server PIN4_000006 1/10560 0/6728 1/3832
?/? c.119-58C>G r.(=) p.(=) g.71406253C>G Copied from the Exome Variant Server PIN4_000007 17/3600 16/2391 1/1209
?/? c.119-18G>A r.(=) p.(=) g.71406293G>A Copied from the Exome Variant Server PIN4_000008 1/10563 1/6728 0/3835
?/? c.119-10T>C r.(=) p.(=) g.71406301T>C Copied from the Exome Variant Server PIN4_000009 4583/10563 1722/6728 2861/3835
?/? c.125C>T r.(?) p.(Ala42Val) g.71406317C>T Copied from the Exome Variant Server PIN4_000010 1/10563 0/6728 1/3835
?/? c.182A>G r.(?) p.(Asn61Ser) g.71406374A>G Copied from the Exome Variant Server PIN4_000011 1/10563 1/6728 0/3835
?/? c.192+10T>C r.(=) p.(=) g.71406394T>C Copied from the Exome Variant Server PIN4_000012 7/10563 5/6728 2/3835
?/? c.249A>G r.(=) p.(=) g.71416691A>G Copied from the Exome Variant Server PIN4_000013 1/10563 1/6728 0/3835
?/? c.264A>G r.(=) p.(=) g.71416706A>G Copied from the Exome Variant Server PIN4_000014 1/10563 0/6728 1/3835
?/? c.279C>T r.(=) p.(=) g.71416721C>T Copied from the Exome Variant Server PIN4_000015 1329/10563 205/6728 1124/3835
?/? c.280G>T r.(?) p.(Ala94Ser) g.71416722G>T Copied from the Exome Variant Server PIN4_000016 335/10563 6/6728 329/3835
?/? c.301G>A r.(?) p.(Ala101Thr) g.71416743G>A Copied from the Exome Variant Server PIN4_000017 1/10563 0/6728 1/3835
?/? c.312+24A>G r.(=) p.(=) g.71416778A>G Copied from the Exome Variant Server PIN4_000018 1/10547 1/6720 0/3827
?/? c.312+29C>T r.(=) p.(=) g.71416783C>T Copied from the Exome Variant Server PIN4_000019 1/10546 0/6719 1/3827
?/? c.313-51C>T r.(=) p.(=) g.71417167C>T Copied from the Exome Variant Server PIN4_000020 1/10536 1/6711 0/3825
?/? c.313-50T>C r.(=) p.(=) g.71417168T>C Copied from the Exome Variant Server PIN4_000021 1/10537 1/6712 0/3825
?/? c.313-46C>G r.(=) p.(=) g.71417172C>G Copied from the Exome Variant Server PIN4_000022 1/10542 1/6716 0/3826
?/? c.399G>A r.(=) p.(=) g.71417304G>A Copied from the Exome Variant Server PIN4_000023 2/10563 0/6728 2/3835
?/? c.408T>C r.(=) p.(=) g.71417313T>C Copied from the Exome Variant Server PIN4_000024 1/10563 0/6728 1/3835
?/? c.444T>C r.(=) p.(=) g.71417349T>C Copied from the Exome Variant Server PIN4_000025 122/10563 107/6728 15/3835
?/? c.*7A>G r.(=) p.(=) g.71417383A>G Copied from the Exome Variant Server PIN4_000026 3/10563 3/6728 0/3835
?/? c.*19A>G r.(=) p.(=) g.71417395A>G Copied from the Exome Variant Server PIN4_000027 2/10562 2/6727 0/3835
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