Unique variants in gene ZNF630

Information The variants shown are described using the NM_001037735.2 transcript reference sequence.

60 entries on 1 page. Showing entries 1 - 60.
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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.-79G>A r.(=) p.(=) g.47926353C>T Copied from the Exome Variant Server ZNF630_000060 72/3594 0/2387 72/1207
1 c.16-32T>C r.(=) p.(=) g.47920356A>G Copied from the Exome Variant Server ZNF630_000059 8074/8104 5458/5488 2616/2616
1 c.92C>T r.(?) p.(Thr31Ile) g.47920248G>A Copied from the Exome Variant Server ZNF630_000058 4/8102 0/5487 4/2615
1 c.101G>A r.(?) p.(Arg34Lys) g.47920239C>T Copied from the Exome Variant Server ZNF630_000057 1/8101 1/5486 0/2615
1 c.142+38C>T r.(=) p.(=) g.47920160G>A Copied from the Exome Variant Server ZNF630_000056 1/8095 0/5481 1/2614
1 c.212G>A r.(?) p.(Ser71Asn) g.47919855C>T Copied from the Exome Variant Server ZNF630_000055 243/8108 183/5490 60/2618
1 c.235C>A r.(?) p.(Pro79Thr) g.47919832G>T Copied from the Exome Variant Server ZNF630_000054 1/8106 1/5490 0/2616
1 c.238+29C>T r.(=) p.(=) g.47919800G>A Copied from the Exome Variant Server ZNF630_000053 4/8105 3/5489 1/2616
1 c.238+43_238+45del r.(=) p.(=) g.47919784_47919786del Copied from the Exome Variant Server ZNF630_000052 16/8686 8/5641 8/3045
1 c.333A>C r.(=) p.(=) g.47919498T>G Copied from the Exome Variant Server ZNF630_000051 1/10526 0/6709 1/3817
1 c.334T>C r.(=) p.(=) g.47919497A>G Copied from the Exome Variant Server ZNF630_000050 1/10526 1/6709 0/3817
1 c.346T>A r.(?) p.(Leu116Ile) g.47919485A>T Copied from the Exome Variant Server ZNF630_000049 63/10534 59/6711 4/3823
1 c.374T>A r.(?) p.(Met125Lys) g.47919457A>T Copied from the Exome Variant Server ZNF630_000048 1/10536 1/6711 0/3825
1 c.382T>C r.(?) p.(Tyr128His) g.47919449A>G Copied from the Exome Variant Server ZNF630_000047 1/10535 1/6711 0/3824
1 c.430C>T r.(?) p.(Arg144Cys) g.47919401G>A Copied from the Exome Variant Server ZNF630_000046 75/10541 0/6715 75/3826
1 c.432T>G r.(=) p.(=) g.47919399A>C Copied from the Exome Variant Server ZNF630_000045 1/10542 1/6716 0/3826
1 c.444T>A r.(=) p.(=) g.47919387A>T Copied from the Exome Variant Server ZNF630_000044 9/10544 8/6717 1/3827
1 c.542G>C r.(?) p.(Cys181Ser) g.47919289C>G Copied from the Exome Variant Server ZNF630_000043 1/10541 0/6715 1/3826
1 c.568G>T r.(?) p.(Asp190Tyr) g.47919263C>A Copied from the Exome Variant Server ZNF630_000042 1/10542 1/6716 0/3826
1 c.607C>G r.(?) p.(Pro203Ala) g.47919224G>C Copied from the Exome Variant Server ZNF630_000041 1/10541 1/6718 0/3823
1 c.650C>T r.(?) p.(Ala217Val) g.47919181G>A Copied from the Exome Variant Server ZNF630_000040 2/10542 2/6717 0/3825
1 c.670A>G r.(?) p.(Lys224Glu) g.47919161T>C Copied from the Exome Variant Server ZNF630_000039 1/10543 1/6718 0/3825
1 c.687T>C r.(=) p.(=) g.47919144A>G Copied from the Exome Variant Server ZNF630_000038 71/10545 0/6719 71/3826
1 c.711T>C r.(=) p.(=) g.47919120A>G Copied from the Exome Variant Server ZNF630_000037 2/10547 2/6720 0/3827
1 c.757T>C r.(?) p.(Tyr253His) g.47919074A>G Copied from the Exome Variant Server ZNF630_000036 1/10547 0/6719 1/3828
1 c.895_909del r.(?) p.(Ala299_Lys303del) g.47918922_47918936del Copied from the Exome Variant Server ZNF630_000035 7/10187 3/6473 4/3714
1 c.952C>T r.(?) p.(Pro318Ser) g.47918879G>A Copied from the Exome Variant Server ZNF630_000034 37/10545 0/6719 37/3826
1 c.956A>G r.(?) p.(Tyr319Cys) g.47918875T>C Copied from the Exome Variant Server ZNF630_000033 45/10544 0/6719 45/3825
1 c.961T>C r.(?) p.(Cys321Arg) g.47918870A>G Copied from the Exome Variant Server ZNF630_000032 3/10544 2/6719 1/3825
1 c.988C>T r.(?) p.(Arg330Trp) g.47918843G>A Copied from the Exome Variant Server ZNF630_000031 1/10541 0/6717 1/3824
1 c.1072C>T r.(?) p.(Gln358*) g.47918759G>A Copied from the Exome Variant Server ZNF630_000030 1/10544 1/6717 0/3827
1 c.1130G>C r.(?) p.(Cys377Ser) g.47918701C>G Copied from the Exome Variant Server ZNF630_000029 41/10542 0/6716 41/3826
1 c.1149C>T r.(=) p.(=) g.47918682G>A Copied from the Exome Variant Server ZNF630_000028 30/10539 28/6715 2/3824
1 c.1173T>C r.(=) p.(=) g.47918658A>G Copied from the Exome Variant Server ZNF630_000027 1/10538 0/6714 1/3824
1 c.1210G>A r.(?) p.(Glu404Lys) g.47918621C>T Copied from the Exome Variant Server ZNF630_000026 92/10538 0/6712 92/3826
1 c.1240C>T r.(?) p.(Arg414Trp) g.47918591G>A Copied from the Exome Variant Server ZNF630_000025 1/10539 0/6713 1/3826
1 c.1248A>G r.(=) p.(=) g.47918583T>C Copied from the Exome Variant Server ZNF630_000024 1/10539 1/6713 0/3826
1 c.1257T>C r.(=) p.(=) g.47918574A>G Copied from the Exome Variant Server ZNF630_000023 1/10537 1/6713 0/3824
1 c.1296G>T r.(?) p.(Lys432Asn) g.47918535C>A Copied from the Exome Variant Server ZNF630_000022 1/10541 0/6716 1/3825
1 c.1310G>A r.(?) p.(Gly437Glu) g.47918521C>T Copied from the Exome Variant Server ZNF630_000021 129/10541 1/6716 128/3825
1 c.1343G>A r.(?) p.(Gly448Glu) g.47918488C>T Copied from the Exome Variant Server ZNF630_000020 1/10541 1/6717 0/3824
1 c.1373C>G r.(?) p.(Pro458Arg) g.47918458G>C Copied from the Exome Variant Server ZNF630_000018 2/10540 0/6715 2/3825
1 c.1422C>A r.(=) p.(=) g.47918409G>T Copied from the Exome Variant Server ZNF630_000016 1/10541 0/6715 1/3826
1 c.1423A>G r.(?) p.(Thr475Ala) g.47918408T>C Copied from the Exome Variant Server ZNF630_000014 1/10541 1/6715 0/3826
1 c.1446T>C r.(=) p.(=) g.47918385A>G Copied from the Exome Variant Server ZNF630_000012 1/10542 1/6716 0/3826
1 c.1471G>C r.(?) p.(Glu491Gln) g.47918360C>G Copied from the Exome Variant Server ZNF630_000010 10/10543 0/6717 10/3826
1 c.1490C>T r.(?) p.(Ser497Phe) g.47918341G>A Copied from the Exome Variant Server ZNF630_000008 1/10542 1/6717 0/3825
1 c.1598A>C r.(?) p.(His533Pro) g.47918233T>G Copied from the Exome Variant Server ZNF630_000019 1/10538 1/6714 0/3824
1 c.1626C>T r.(=) p.(=) g.47918205G>A Copied from the Exome Variant Server ZNF630_000017 5774/10539 3605/6715 2169/3824
1 c.1637C>T r.(?) p.(Thr546Ile) g.47918194G>A Copied from the Exome Variant Server ZNF630_000015 129/10538 1/6714 128/3824
1 c.1647G>A r.(=) p.(=) g.47918184C>T Copied from the Exome Variant Server ZNF630_000013 5/10539 0/6715 5/3824
1 c.1671T>C r.(=) p.(=) g.47918160A>G Copied from the Exome Variant Server ZNF630_000011 145/10538 133/6715 12/3823
1 c.1706A>C r.(?) p.(Lys569Thr) g.47918125T>G Copied from the Exome Variant Server ZNF630_000009 1/10539 0/6716 1/3823
1 c.1742G>A r.(?) p.(Cys581Tyr) g.47918089C>T Copied from the Exome Variant Server ZNF630_000007 1/10540 0/6717 1/3823
1 c.1784G>A r.(?) p.(Arg595Lys) g.47918047C>T Copied from the Exome Variant Server ZNF630_000006 1/10541 1/6718 0/3823
1 c.1788G>A r.(=) p.(=) g.47918043C>T Copied from the Exome Variant Server ZNF630_000005 2/10542 0/6718 2/3824
1 c.1857A>C r.(?) p.(Arg619Ser) g.47917974T>G Copied from the Exome Variant Server ZNF630_000004 1/10540 1/6715 0/3825
1 c.1916A>G r.(?) p.(His639Arg) g.47917915T>C Copied from the Exome Variant Server ZNF630_000003 1/10542 1/6716 0/3826
1 c.1917T>G r.(?) p.(His639Gln) g.47917914A>C Copied from the Exome Variant Server ZNF630_000002 1/10542 1/6716 0/3826
1 c.1967T>C r.(?) p.(Ile656Thr) g.47917864A>G Copied from the Exome Variant Server ZNF630_000001 2/10541 0/6716 2/3825
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