Full data view for gene PNCK

Information The variants shown are described using the NM_001039582.3 transcript reference sequence.

89 entries on 1 page. Showing entries 1 - 89.
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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.-11_-10insT r.(=) p.(=) g.152939640_152939641insA Copied from the Exome Variant Server PNCK_000059 24/9509 0/6040 24/3469 - - - - - - -
?/? c.248-117G>A r.(=) p.(=) g.152938650C>T Copied from the Exome Variant Server PNCK_000058 1/8057 0/5463 1/2594 - - - - - - -
?/? c.248-108C>T r.(=) p.(=) g.152938641G>A Copied from the Exome Variant Server PNCK_000057 1/8063 1/5466 0/2597 - - - - - - -
?/? c.248-106C>T r.(=) p.(=) g.152938639G>A Copied from the Exome Variant Server PNCK_000056 2/8061 1/5464 1/2597 - - - - - - -
?/? c.248-102G>A r.(=) p.(=) g.152938635C>T Copied from the Exome Variant Server PNCK_000055 1/8067 1/5465 0/2602 - - - - - - -
?/? c.284G>A r.(?) p.(Ser95Asn) g.152938497C>T Copied from the Exome Variant Server PNCK_000054 1/10560 0/6725 1/3835 - - - - - - -
?/? c.310C>G r.(?) p.(Leu104Val) g.152938471G>C Copied from the Exome Variant Server PNCK_000050 1/10559 1/6725 0/3834 - - - - - - -
?/? c.317+13G>A r.(=) p.(=) g.152938451C>T Copied from the Exome Variant Server PNCK_000049 35/10539 0/6715 35/3824 - - - - - - -
?/? c.317+14C>T r.(=) p.(=) g.152938450G>A Copied from the Exome Variant Server PNCK_000048 1080/10540 734/6715 346/3825 - - - - - - -
?/? c.317+27G>T r.(=) p.(=) g.152938437C>A Copied from the Exome Variant Server PNCK_000047 28/10519 0/6701 28/3818 - - - - - - -
?/? c.318-31_318-28del r.(=) p.(=) g.152938180_152938183del Copied from the Exome Variant Server PNCK_000046 128/9840 0/6233 128/3607 - - - - - - -
?/? c.361G>T r.(?) p.(Ala121Ser) g.152938109C>A Copied from the Exome Variant Server PNCK_000045 1/10559 1/6725 0/3834 - - - - - - -
?/? c.403C>T r.(?) p.(Arg135Trp) g.152938067G>A Copied from the Exome Variant Server PNCK_000044 1/10563 1/6728 0/3835 - - - - - - -
?/? c.445C>T r.(?) p.(Arg149Cys) g.152938025G>A Copied from the Exome Variant Server PNCK_000043 3/10563 0/6728 3/3835 - - - - - - -
?/? c.449+5G>T r.spl? p.? g.152938016C>A Copied from the Exome Variant Server PNCK_000042 1/10563 0/6728 1/3835 - - - - - - -
?/? c.449+12G>A r.(=) p.(=) g.152938009C>T Copied from the Exome Variant Server PNCK_000041 1/10563 1/6728 0/3835 - - - - - - -
?/? c.449+13C>T r.(=) p.(=) g.152938008G>A Copied from the Exome Variant Server PNCK_000040 1/10563 0/6728 1/3835 - - - - - - -
?/? c.468C>T r.(=) p.(=) g.152937637G>A Copied from the Exome Variant Server PNCK_000039 1/10563 1/6728 0/3835 - - - - - - -
?/? c.489C>T r.(=) p.(=) g.152937616G>A Copied from the Exome Variant Server PNCK_000038 1/10563 1/6728 0/3835 - - - - - - -
?/? c.524+31C>T r.(=) p.(=) g.152937550G>A Copied from the Exome Variant Server PNCK_000037 1/10563 0/6728 1/3835 - - - - - - -
?/? c.524+32G>A r.(=) p.(=) g.152937549C>T Copied from the Exome Variant Server PNCK_000036 1/10563 1/6728 0/3835 - - - - - - -
?/? c.524+35G>A r.(=) p.(=) g.152937546C>T Copied from the Exome Variant Server PNCK_000035 94/10563 89/6728 5/3835 - - - - - - -
?/? c.525-15C>T r.(=) p.(=) g.152937488G>A Copied from the Exome Variant Server PNCK_000034 82/10563 0/6728 82/3835 - - - - - - -
?/? c.525-14C>T r.(=) p.(=) g.152937487G>A Copied from the Exome Variant Server PNCK_000033 1/10563 0/6728 1/3835 - - - - - - -
?/? c.526_527insG r.(?) p.(Val176Glyfs*8) g.152937471_152937472insC Copied from the Exome Variant Server PNCK_000032 1/10202 0/6481 1/3721 - - - - - - -
?/? c.530C>T r.(?) p.(Thr177Met) g.152937468G>A Copied from the Exome Variant Server PNCK_000031 1/10562 1/6727 0/3835 - - - - - - -
?/? c.550C>T r.(?) p.(Arg184Cys) g.152937448G>A Copied from the Exome Variant Server PNCK_000030 1/10563 1/6728 0/3835 - - - - - - -
?/? c.583G>A r.(?) p.(Asp195Asn) g.152937415C>T Copied from the Exome Variant Server PNCK_000029 2/10563 2/6728 0/3835 - - - - - - -
?/? c.653G>A r.(?) p.(Arg218Gln) g.152937345C>T Copied from the Exome Variant Server PNCK_000028 1/10556 0/6721 1/3835 - - - - - - -
?/? c.658C>G r.(?) p.(Leu220Val) g.152937340G>C Copied from the Exome Variant Server PNCK_000027 1/10555 1/6720 0/3835 - - - - - - -
?/? c.663+18C>G r.(=) p.(=) g.152937317G>C Copied from the Exome Variant Server PNCK_000026 1/10544 1/6715 0/3829 - - - - - - -
?/? c.663+37C>G r.(=) p.(=) g.152937298G>C Copied from the Exome Variant Server PNCK_000053 2/10537 2/6708 0/3829 - - - - - - -
?/? c.664-52C>T r.(=) p.(=) g.152937179G>A Copied from the Exome Variant Server PNCK_000074 229/6038 5/3621 224/2417 - - - - - - -
?/? c.664-46C>T r.(=) p.(=) g.152937173G>A Copied from the Exome Variant Server PNCK_000073 2/10563 2/6728 0/3835 - - - - - - -
?/? c.666C>T r.(=) p.(=) g.152937125G>A Copied from the Exome Variant Server PNCK_000072 1/10563 1/6728 0/3835 - - - - - - -
?/? c.690C>A r.(=) p.(=) g.152937101G>T Copied from the Exome Variant Server PNCK_000071 1/10563 1/6728 0/3835 - - - - - - -
?/? c.708C>A r.(=) p.(=) g.152937083G>T Copied from the Exome Variant Server PNCK_000070 3/10563 0/6728 3/3835 - - - - - - -
?/? c.762C>T r.(=) p.(=) g.152937029G>A Copied from the Exome Variant Server PNCK_000069 1/10563 1/6728 0/3835 - - - - - - -
?/? c.787+9C>T r.(=) p.(=) g.152936995G>A Copied from the Exome Variant Server PNCK_000068 5/10563 0/6728 5/3835 - - - - - - -
?/? c.787+14C>T r.(=) p.(=) g.152936990G>A Copied from the Exome Variant Server PNCK_000067 1/10563 1/6728 0/3835 - - - - - - -
?/? c.787+79C>T r.(=) p.(=) g.152936925G>A Copied from the Exome Variant Server PNCK_000066 1/10563 1/6728 0/3835 - - - - - - -
?/? c.787+85C>T r.(=) p.(=) g.152936919G>A Copied from the Exome Variant Server PNCK_000065 6/10563 0/6728 6/3835 - - - - - - -
?/? c.787+94G>A r.(=) p.(=) g.152936910C>T Copied from the Exome Variant Server PNCK_000064 1/10563 1/6728 0/3835 - - - - - - -
?/? c.788-72C>T r.(=) p.(=) g.152936887G>A Copied from the Exome Variant Server PNCK_000063 1/10563 1/6728 0/3835 - - - - - - -
?/? c.788-64G>A r.(=) p.(=) g.152936879C>T Copied from the Exome Variant Server PNCK_000062 1/10563 1/6728 0/3835 - - - - - - -
?/? c.788-53C>T r.(=) p.(=) g.152936868G>A Copied from the Exome Variant Server PNCK_000061 5/10562 0/6727 5/3835 - - - - - - -
?/? c.788-52G>C r.(=) p.(=) g.152936867C>G Copied from the Exome Variant Server PNCK_000060 2/10562 0/6727 2/3835 - - - - - - -
?/? c.788-41G>A r.(=) p.(=) g.152936856C>T Copied from the Exome Variant Server PNCK_000079 1/10562 1/6727 0/3835 - - - - - - -
?/? c.788-33C>G r.(=) p.(=) g.152936848G>C Copied from the Exome Variant Server PNCK_000078 80/10562 0/6727 80/3835 - - - - - - -
?/? c.788-24C>T r.(=) p.(=) g.152936839G>A Copied from the Exome Variant Server PNCK_000077 1/10562 1/6727 0/3835 - - - - - - -
?/? c.788-17C>G r.(=) p.(=) g.152936832G>C Copied from the Exome Variant Server PNCK_000076 1/10562 1/6727 0/3835 - - - - - - -
?/? c.813C>T r.(=) p.(=) g.152936790G>A Copied from the Exome Variant Server PNCK_000075 1/10563 0/6728 1/3835 - - - - - - -
?/? c.816C>T r.(=) p.(=) g.152936787G>A Copied from the Exome Variant Server PNCK_000025 1/10563 0/6728 1/3835 - - - - - - -
?/? c.863+10C>T r.(=) p.(=) g.152936730G>A Copied from the Exome Variant Server PNCK_000024 1/10562 0/6728 1/3834 - - - - - - -
?/? c.863+37C>T r.(=) p.(=) g.152936703G>A Copied from the Exome Variant Server PNCK_000023 1/10563 1/6728 0/3835 - - - - - - -
?/? c.906G>A r.(=) p.(=) g.152936603C>T Copied from the Exome Variant Server PNCK_000022 1/10563 1/6728 0/3835 - - - - - - -
?/? c.936T>C r.(=) p.(=) g.152936573A>G Copied from the Exome Variant Server PNCK_000021 3/10563 0/6728 3/3835 - - - - - - -
?/? c.976+19C>G r.(=) p.(=) g.152936514G>C Copied from the Exome Variant Server PNCK_000020 4/10563 0/6728 4/3835 - - - - - - -
?/? c.1055+9G>A r.(=) p.(=) g.152936364C>T Copied from the Exome Variant Server PNCK_000019 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1055+12C>T r.(=) p.(=) g.152936361G>A Copied from the Exome Variant Server PNCK_000018 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1055+13C>G r.(=) p.(=) g.152936360G>C Copied from the Exome Variant Server PNCK_000017 94/10563 0/6728 94/3835 - - - - - - -
?/? c.1055+26C>T r.(=) p.(=) g.152936347G>A Copied from the Exome Variant Server PNCK_000016 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1055+35del r.(=) p.(=) g.152936338del Copied from the Exome Variant Server PNCK_000015 3/10204 3/6483 0/3721 - - - - - - -
?/? c.1055+37G>A r.(=) p.(=) g.152936336C>T Copied from the Exome Variant Server PNCK_000014 1/10562 0/6727 1/3835 - - - - - - -
?/? c.1055+40G>A r.(=) p.(=) g.152936333C>T Copied from the Exome Variant Server PNCK_000013 1/10562 0/6727 1/3835 - - - - - - -
?/? c.1055+41C>A r.(=) p.(=) g.152936332G>T Copied from the Exome Variant Server PNCK_000012 2281/10562 252/6727 2029/3835 - - - - - - -
?/? c.1056-37G>T r.(=) p.(=) g.152936323C>A Copied from the Exome Variant Server PNCK_000011 1/10562 1/6727 0/3835 - - - - - - -
?/? c.1056-27C>T r.(=) p.(=) g.152936313G>A Copied from the Exome Variant Server PNCK_000010 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1056-25C>G r.(=) p.(=) g.152936311G>C Copied from the Exome Variant Server PNCK_000009 4/10563 4/6728 0/3835 - - - - - - -
?/? c.1056-22_1056-21insC r.(=) p.(=) g.152936307_152936308insG Copied from the Exome Variant Server PNCK_000008 6/10205 3/6484 3/3721 - - - - - - -
?/? c.1056-21del r.(=) p.(=) g.152936307del Copied from the Exome Variant Server PNCK_000007 1/10205 1/6484 0/3721 - - - - - - -
?/? c.1077C>T r.(=) p.(=) g.152936265G>A Copied from the Exome Variant Server PNCK_000006 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1103G>T r.(?) p.(Ser368Ile) g.152936239C>A Copied from the Exome Variant Server PNCK_000005 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1115G>A r.(?) p.(Arg372Gln) g.152936227C>T Copied from the Exome Variant Server PNCK_000004 8/10563 3/6728 5/3835 - - - - - - -
?/? c.1120A>G r.(?) p.(Asn374Asp) g.152936222T>C Copied from the Exome Variant Server PNCK_000003 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1129C>T r.(?) p.(Arg377Trp) g.152936213G>A Copied from the Exome Variant Server PNCK_000002 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1131G>A r.(=) p.(=) g.152936211C>T Copied from the Exome Variant Server PNCK_000001 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1143+22G>A r.(=) p.(=) g.152936177C>T Copied from the Exome Variant Server PNCK_000084 13/10562 0/6727 13/3835 - - - - - - -
?/? c.1143+29C>T r.(=) p.(=) g.152936170G>A Copied from the Exome Variant Server PNCK_000083 2/10560 1/6726 1/3834 - - - - - - -
?/? c.1143+30G>T r.(=) p.(=) g.152936169C>A Copied from the Exome Variant Server PNCK_000082 1/10560 0/6725 1/3835 - - - - - - -
?/? c.1143+33C>T r.(=) p.(=) g.152936166G>A Copied from the Exome Variant Server PNCK_000081 226/10561 10/6726 216/3835 - - - - - - -
?/? c.1143+36C>T r.(=) p.(=) g.152936163G>A Copied from the Exome Variant Server PNCK_000080 1/10558 0/6723 1/3835 - - - - - - -
?/? c.1143+37G>A r.(=) p.(=) g.152936162C>T Copied from the Exome Variant Server PNCK_000089 1/10553 1/6719 0/3834 - - - - - - -
?/? c.1189G>C r.(?) p.(Gly397Arg) g.152936004C>G Copied from the Exome Variant Server PNCK_000088 1/10556 1/6724 0/3832 - - - - - - -
?/? c.1206C>T r.(=) p.(=) g.152935987G>A Copied from the Exome Variant Server PNCK_000087 62/10552 56/6722 6/3830 - - - - - - -
?/? c.1251C>T r.(=) p.(=) g.152935942G>A Copied from the Exome Variant Server PNCK_000086 3/10505 3/6692 0/3813 - - - - - - -
?/? c.1255C>T r.(?) p.(Arg419Cys) g.152935938G>A Copied from the Exome Variant Server PNCK_000085 10/10509 0/6695 10/3814 - - - - - - -
?/? c.1267C>T r.(?) p.(Pro423Ser) g.152935926G>A Copied from the Exome Variant Server PNCK_000052 1/10539 0/6708 1/3831 - - - - - - -
?/? c.*7+23C>T r.(=) p.(=) g.152935882G>A Copied from the Exome Variant Server PNCK_000051 17/10527 0/6700 17/3827 - - - - - - -
Legend