Full data view for gene PORCN

Information The variants shown are described using the NM_022825.2 transcript reference sequence.

62 entries on 1 page. Showing entries 1 - 62.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.99T>G r.(=) p.(=) g.48368307T>G Copied from the Exome Variant Server PORCN_000001 4/10562 0/6727 4/3835 - - - - - - -
?/? c.126C>G r.(=) p.(=) g.48368334C>G Copied from the Exome Variant Server PORCN_000002 1/10563 1/6728 0/3835 - - - - - - -
?/? c.288C>T r.(=) p.(=) g.48369834C>T Copied from the Exome Variant Server PORCN_000003 1/10563 1/6728 0/3835 - - - - - - -
?/? c.297A>G r.(=) p.(=) g.48369843A>G Copied from the Exome Variant Server PORCN_000004 2/10563 0/6728 2/3835 - - - - - - -
?/? c.329+11G>A r.(=) p.(=) g.48369886G>A Copied from the Exome Variant Server PORCN_000005 1/10563 1/6728 0/3835 - - - - - - -
?/? c.329+15C>A r.(=) p.(=) g.48369890C>A Copied from the Exome Variant Server PORCN_000006 1/10563 1/6728 0/3835 - - - - - - -
?/? c.330-29del r.(=) p.(=) g.48370251del Copied from the Exome Variant Server PORCN_000007 209/10205 132/6484 77/3721 - - - - - - -
?/? c.351C>T r.(=) p.(=) g.48370301C>T Copied from the Exome Variant Server PORCN_000008 1/10563 1/6728 0/3835 - - - - - - -
?/? c.373+9C>A r.(=) p.(=) g.48370332C>A Copied from the Exome Variant Server PORCN_000009 1/10563 0/6728 1/3835 - - - - - - -
?/? c.373+34C>G r.(=) p.(=) g.48370357C>G Copied from the Exome Variant Server PORCN_000010 4/10563 4/6728 0/3835 - - - - - - -
?/? c.373+38del r.(=) p.(=) g.48370361del Copied from the Exome Variant Server PORCN_000011 3/10205 3/6484 0/3721 - - - - - - -
?/? c.404T>C r.(?) p.(Val135Ala) g.48370744T>C Copied from the Exome Variant Server PORCN_000012 1/10563 1/6728 0/3835 - - - - - - -
?/? c.450C>G r.(=) p.(=) g.48370790C>G Copied from the Exome Variant Server PORCN_000013 1/10563 1/6728 0/3835 - - - - - - -
?/? c.452C>T r.(?) p.(Ser151Leu) g.48370792C>T Copied from the Exome Variant Server PORCN_000014 1/10563 1/6728 0/3835 - - - - - - -
?/? c.453G>A r.(=) p.(=) g.48370793G>A Copied from the Exome Variant Server PORCN_000015 2/10563 2/6728 0/3835 - - - - - - -
?/? c.548G>A r.(?) p.(Arg183His) g.48370888G>A Copied from the Exome Variant Server PORCN_000016 1/10562 1/6727 0/3835 - - - - - - -
?/? c.600C>T r.(=) p.(=) g.48371021C>T Copied from the Exome Variant Server PORCN_000017 1/10563 1/6728 0/3835 - - - - - - -
?/? c.633C>T r.(=) p.(=) g.48371054C>T Copied from the Exome Variant Server PORCN_000018 288/10563 2/6728 286/3835 - - - - - - -
?/? c.673C>T r.(?) p.(Arg225Cys) g.48371094C>T Copied from the Exome Variant Server PORCN_000019 1/10563 0/6728 1/3835 - - - - - - -
?/? c.683G>A r.(?) p.(Arg228His) g.48371104G>A Copied from the Exome Variant Server PORCN_000020 2/10563 1/6728 1/3835 - - - - - - -
?/? c.686+15C>T r.(=) p.(=) g.48371122C>T Copied from the Exome Variant Server PORCN_000021 3/10563 1/6728 2/3835 - - - - - - -
?/? c.686+57C>T r.(=) p.(=) g.48371164C>T Copied from the Exome Variant Server PORCN_000022 1/3600 0/2391 1/1209 - - - - - - -
?/? c.686+95_686+101del r.(=) p.(=) g.48371202_48371208del Copied from the Exome Variant Server PORCN_000023 215/10205 160/6484 55/3721 - - - - - - -
?/? c.686+107T>C r.(=) p.(=) g.48371214T>C Copied from the Exome Variant Server PORCN_000024 1/10563 0/6728 1/3835 - - - - - - -
?/? c.686+124G>A r.(=) p.(=) g.48371231G>A Copied from the Exome Variant Server PORCN_000025 1/10563 1/6728 0/3835 - - - - - - -
?/? c.686+182G>C r.(=) p.(=) g.48371289G>C Copied from the Exome Variant Server PORCN_000026 1/10563 0/6728 1/3835 - - - - - - -
?/? c.687-83G>A r.(=) p.(=) g.48372545G>A Copied from the Exome Variant Server PORCN_000027 2/10563 1/6728 1/3835 - - - - - - -
?/? c.687-78C>T r.(=) p.(=) g.48372550C>T Copied from the Exome Variant Server PORCN_000028 1/10563 0/6728 1/3835 - - - - - - -
?/? c.687-28C>T r.(=) p.(=) g.48372600C>T Copied from the Exome Variant Server PORCN_000029 212/10563 0/6728 212/3835 - - - - - - -
?/? c.687-6C>T r.(=) p.(=) g.48372622C>T Copied from the Exome Variant Server PORCN_000030 1/10563 0/6728 1/3835 - - - - - - -
?/? c.748C>G r.(?) p.(Leu250Val) g.48372689C>G Copied from the Exome Variant Server PORCN_000031 1/10563 1/6728 0/3835 - - - - - - -
?/? c.761C>T r.(?) p.(Thr254Met) g.48372702C>T Copied from the Exome Variant Server PORCN_000032 1/10563 1/6728 0/3835 - - - - - - -
?/? c.768G>A r.(=) p.(=) g.48372709G>A Copied from the Exome Variant Server PORCN_000033 1/10563 1/6728 0/3835 - - - - - - -
?/? c.772G>A r.(?) p.(Ala258Thr) g.48372713G>A Copied from the Exome Variant Server PORCN_000034 1/10563 0/6728 1/3835 - - - - - - -
?/? c.812+2_812+3insG r.spl? p.? g.48372755_48372756insG Copied from the Exome Variant Server PORCN_000035 25/10167 12/6463 13/3704 - - - - - - -
?/? c.813-39G>A r.(=) p.(=) g.48372874G>A Copied from the Exome Variant Server PORCN_000036 23/10563 2/6728 21/3835 - - - - - - -
?/? c.813-36A>T r.(=) p.(=) g.48372877A>T Copied from the Exome Variant Server PORCN_000037 57/10563 0/6728 57/3835 - - - - - - -
?/? c.821C>T r.(?) p.(Thr274Met) g.48372921C>T Copied from the Exome Variant Server PORCN_000038 1/10563 1/6728 0/3835 - - - - - - -
?/? c.839A>C r.(?) p.(Asn280Thr) g.48372939A>C Copied from the Exome Variant Server PORCN_000039 1/10563 1/6728 0/3835 - - - - - - -
?/? c.914-24T>C r.(=) p.(=) g.48374081T>C Copied from the Exome Variant Server PORCN_000040 3/10551 2/6720 1/3831 - - - - - - -
?/? c.914-21C>A r.(=) p.(=) g.48374084C>A Copied from the Exome Variant Server PORCN_000041 1/10555 0/6722 1/3833 - - - - - - -
?/? c.935G>A r.(?) p.(Arg312His) g.48374126G>A Copied from the Exome Variant Server PORCN_000042 2/10563 0/6728 2/3835 - - - - - - -
?/? c.974C>G r.(?) p.(Ala325Gly) g.48374165C>G Copied from the Exome Variant Server PORCN_000043 4/10563 0/6728 4/3835 - - - - - - -
?/? c.990+45G>A r.(=) p.(=) g.48374226G>A Copied from the Exome Variant Server PORCN_000044 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1021C>T r.(=) p.(=) g.48374308C>T Copied from the Exome Variant Server PORCN_000045 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1044C>T r.(=) p.(=) g.48374331C>T Copied from the Exome Variant Server PORCN_000046 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1054+10G>A r.(=) p.(=) g.48374351G>A Copied from the Exome Variant Server PORCN_000047 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1054+43G>T r.(=) p.(=) g.48374384G>T Copied from the Exome Variant Server PORCN_000048 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1054+45G>T r.(=) p.(=) g.48374386G>T Copied from the Exome Variant Server PORCN_000049 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1055-47C>T r.(=) p.(=) g.48374402C>T Copied from the Exome Variant Server PORCN_000050 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1125G>A r.(=) p.(=) g.48374519G>A Copied from the Exome Variant Server PORCN_000051 287/10563 2/6728 285/3835 - - - - - - -
?/? c.1140+51G>A r.(=) p.(=) g.48374585G>A Copied from the Exome Variant Server PORCN_000052 1/10562 1/6728 0/3834 - - - - - - -
?/? c.1149G>T r.(=) p.(=) g.48375579G>T Copied from the Exome Variant Server PORCN_000053 1/10399 0/6611 1/3788 - - - - - - -
?/? c.1224C>T r.(=) p.(=) g.48375654C>T Copied from the Exome Variant Server PORCN_000054 1/10452 0/6645 1/3807 - - - - - - -
?/? c.1241C>T r.(?) p.(Thr414Ile) g.48375671C>T Copied from the Exome Variant Server PORCN_000055 6/10404 0/6607 6/3797 - - - - - - -
?/? c.1251+32C>A r.(=) p.(=) g.48375713C>A Copied from the Exome Variant Server PORCN_000056 648/9999 13/6327 635/3672 - - - - - - -
?/? c.1251+52del r.(=) p.(=) g.48375733del Copied from the Exome Variant Server PORCN_000057 8/8978 7/5642 1/3336 - - - - - - -
?/? c.1252-45C>A r.(=) p.(=) g.48378718C>A Copied from the Exome Variant Server PORCN_000058 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1257C>T r.(=) p.(=) g.48378768C>T Copied from the Exome Variant Server PORCN_000059 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1295G>C r.(?) p.(Ser432Thr) g.48378806G>C Copied from the Exome Variant Server PORCN_000060 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1330A>G r.(?) p.(Ile444Val) g.48378841A>G Copied from the Exome Variant Server PORCN_000061 1/10563 1/6728 0/3835 - - - - - - -
?/? c.*34A>T r.(=) p.(=) g.48378898A>T Copied from the Exome Variant Server PORCN_000062 10/10563 0/6728 10/3835 - - - - - - -
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