Full data view for gene NHS

Information The variants shown are described using the NM_198270.2 transcript reference sequence.

131 entries on 2 pages. Showing entries 1 - 100.
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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.205_207del r.(?) p.(Pro73del) g.17394085_17394087del Copied from the Exome Variant Server NHS_000001 29/506 1/298 28/208 - - - - - - -
?/? c.332_334del r.(?) p.(Ala117del) g.17394212_17394214del Copied from the Exome Variant Server NHS_000002 16/2373 11/1652 5/721 - - - - - - -
?/? c.398C>T r.(?) p.(Ala133Val) g.17394278C>T Copied from the Exome Variant Server NHS_000003 1/9553 1/6011 0/3542 - - - - - - -
?/? c.457C>T r.(?) p.(Leu153Phe) g.17394337C>T Copied from the Exome Variant Server NHS_000004 1/9690 1/6121 0/3569 - - - - - - -
?/? c.566-52165C>T r.(=) p.(=) g.17653697C>T Copied from the Exome Variant Server NHS_000005 16/3600 16/2391 0/1209 - - - - - - -
?/? c.566-52082C>T r.(=) p.(=) g.17653780C>T Copied from the Exome Variant Server NHS_000006 24/3600 0/2391 24/1209 - - - - - - -
?/? c.566-52074G>T r.(=) p.(=) g.17653788G>T Copied from the Exome Variant Server NHS_000007 45/3600 0/2391 45/1209 - - - - - - -
?/? c.566-12_566-11insT r.(=) p.(=) g.17705850_17705851insT Copied from the Exome Variant Server NHS_000008 10202/10205 6484/6484 3718/3721 - - - - - - -
?/? c.568G>A r.(?) p.(Val190Ile) g.17705864G>A Copied from the Exome Variant Server NHS_000009 1/10563 0/6728 1/3835 - - - - - - -
?/? c.587A>G r.(?) p.(Glu196Gly) g.17705883A>G Copied from the Exome Variant Server NHS_000010 1/10563 1/6728 0/3835 - - - - - - -
?/? c.590G>A r.(?) p.(Ser197Asn) g.17705886G>A Copied from the Exome Variant Server NHS_000011 1/10563 1/6728 0/3835 - - - - - - -
?/? c.611G>T r.(?) p.(Arg204Leu) g.17705907G>T Copied from the Exome Variant Server NHS_000012 1/10563 1/6728 0/3835 - - - - - - -
?/? c.618G>A r.(=) p.(=) g.17705914G>A Copied from the Exome Variant Server NHS_000013 2/10563 2/6728 0/3835 - - - - - - -
?/? c.646C>G r.(?) p.(Pro216Ala) g.17705942C>G Copied from the Exome Variant Server NHS_000014 2/10563 0/6728 2/3835 - - - - - - -
?/? c.666C>T r.(=) p.(=) g.17705962C>T Copied from the Exome Variant Server NHS_000015 12/10561 0/6726 12/3835 - - - - - - -
?/? c.688G>A r.(?) p.(Ala230Thr) g.17705984G>A Copied from the Exome Variant Server NHS_000016 9/10563 0/6728 9/3835 - - - - - - -
?/? c.702G>A r.(=) p.(=) g.17705998G>A Copied from the Exome Variant Server NHS_000017 1/10563 1/6728 0/3835 - - - - - - -
?/? c.718+30C>T r.(=) p.(=) g.17706044C>T Copied from the Exome Variant Server NHS_000018 1/10554 0/6723 1/3831 - - - - - - -
?/? c.718+43G>A r.(=) p.(=) g.17706057G>A Copied from the Exome Variant Server NHS_000019 1/10534 1/6705 0/3829 - - - - - - -
?/? c.719-47G>A r.(=) p.(=) g.17710408G>A Copied from the Exome Variant Server NHS_000020 10/10563 0/6728 10/3835 - - - - - - -
?/? c.719-8_719-6del r.(=) p.(=) g.17710447_17710449del Copied from the Exome Variant Server NHS_000021 10/10205 5/6484 5/3721 - - - - - - -
?/? c.732G>A r.(=) p.(=) g.17710468G>A Copied from the Exome Variant Server NHS_000022 1/10563 0/6728 1/3835 - - - - - - -
?/? c.739C>T r.(?) p.(Arg247Cys) g.17710475C>T Copied from the Exome Variant Server NHS_000023 1/10563 1/6728 0/3835 - - - - - - -
?/? c.765C>G r.(=) p.(=) g.17710501C>G Copied from the Exome Variant Server NHS_000024 5/10563 5/6728 0/3835 - - - - - - -
?/? c.828G>A r.(=) p.(=) g.17710564G>A Copied from the Exome Variant Server NHS_000025 19/10563 3/6728 16/3835 - - - - - - -
?/? c.853-21C>A r.(=) p.(=) g.17739540C>A Copied from the Exome Variant Server NHS_000026 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1026T>C r.(=) p.(=) g.17739734T>C Copied from the Exome Variant Server NHS_000027 9/10563 0/6728 9/3835 - - - - - - -
?/? c.1045+49G>A r.(=) p.(=) g.17739802G>A Copied from the Exome Variant Server NHS_000028 12/10563 0/6728 12/3835 - - - - - - -
?/? c.1066G>A r.(?) p.(Ala356Thr) g.17742439G>A Copied from the Exome Variant Server NHS_000029 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1095A>G r.(=) p.(=) g.17742468A>G Copied from the Exome Variant Server NHS_000030 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1100C>T r.(?) p.(Ser367Leu) g.17742473C>T Copied from the Exome Variant Server NHS_000031 3/10563 2/6728 1/3835 - - - - - - -
?/? c.1112G>A r.(?) p.(Arg371Gln) g.17742485G>A Copied from the Exome Variant Server NHS_000032 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1165C>G r.(?) p.(Gln389Glu) g.17742538C>G Copied from the Exome Variant Server NHS_000033 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1177+23T>C r.(=) p.(=) g.17742573T>C Copied from the Exome Variant Server NHS_000034 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1177+39G>A r.(=) p.(=) g.17742589G>A Copied from the Exome Variant Server NHS_000035 2/10563 1/6728 1/3835 - - - - - - -
?/? c.1255A>G r.(?) p.(Arg419Gly) g.17743544A>G Copied from the Exome Variant Server NHS_000036 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1264G>A r.(?) p.(Gly422Arg) g.17743553G>A Copied from the Exome Variant Server NHS_000037 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1356A>G r.(=) p.(=) g.17743645A>G Copied from the Exome Variant Server NHS_000038 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1380C>G r.(=) p.(=) g.17743669C>G Copied from the Exome Variant Server NHS_000039 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1394T>C r.(?) p.(Leu465Pro) g.17743683T>C Copied from the Exome Variant Server NHS_000040 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1403A>G r.(?) p.(Lys468Arg) g.17743692A>G Copied from the Exome Variant Server NHS_000041 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1437C>T r.(=) p.(=) g.17743726C>T Copied from the Exome Variant Server NHS_000042 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1511C>A r.(?) p.(Pro504His) g.17743800C>A Copied from the Exome Variant Server NHS_000043 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1533G>A r.(=) p.(=) g.17743822G>A Copied from the Exome Variant Server NHS_000044 5/10563 5/6728 0/3835 - - - - - - -
?/? c.1540G>A r.(?) p.(Val514Met) g.17743829G>A Copied from the Exome Variant Server NHS_000045 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1647C>T r.(=) p.(=) g.17743936C>T Copied from the Exome Variant Server NHS_000046 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1651C>T r.(?) p.(Pro551Ser) g.17743940C>T Copied from the Exome Variant Server NHS_000047 834/10563 100/6728 734/3835 - - - - - - -
?/? c.1674G>A r.(=) p.(=) g.17743963G>A Copied from the Exome Variant Server NHS_000048 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1685G>A r.(?) p.(Arg562His) g.17743974G>A Copied from the Exome Variant Server NHS_000049 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1733A>G r.(?) p.(Asn578Ser) g.17744022A>G Copied from the Exome Variant Server NHS_000050 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1742C>T r.(?) p.(Thr581Met) g.17744031C>T Copied from the Exome Variant Server NHS_000051 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1743G>A r.(=) p.(=) g.17744032G>A Copied from the Exome Variant Server NHS_000052 8/10563 0/6728 8/3835 - - - - - - -
?/? c.1856C>T r.(?) p.(Thr619Met) g.17744145C>T Copied from the Exome Variant Server NHS_000053 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1866G>A r.(=) p.(=) g.17744155G>A Copied from the Exome Variant Server NHS_000054 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1902T>G r.(=) p.(=) g.17744191T>G Copied from the Exome Variant Server NHS_000055 7/10563 0/6728 7/3835 - - - - - - -
?/? c.1997A>G r.(?) p.(Tyr666Cys) g.17744286A>G Copied from the Exome Variant Server NHS_000056 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2030G>A r.(?) p.(Arg677Gln) g.17744319G>A Copied from the Exome Variant Server NHS_000057 6/10563 0/6728 6/3835 - - - - - - -
?/? c.2115A>G r.(=) p.(=) g.17744404A>G Copied from the Exome Variant Server NHS_000058 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2162G>A r.(?) p.(Arg721His) g.17744451G>A Copied from the Exome Variant Server NHS_000059 2/10560 2/6726 0/3834 - - - - - - -
?/? c.2171C>T r.(?) p.(Ala724Val) g.17744460C>T Copied from the Exome Variant Server NHS_000060 1/10558 1/6725 0/3833 - - - - - - -
?/? c.2267T>C r.(?) p.(Phe756Ser) g.17744556T>C Copied from the Exome Variant Server NHS_000061 7/10563 6/6728 1/3835 - - - - - - -
?/? c.2279C>T r.(?) p.(Thr760Met) g.17744568C>T Copied from the Exome Variant Server NHS_000062 4/10563 0/6728 4/3835 - - - - - - -
?/? c.2406T>C r.(=) p.(=) g.17744695T>C Copied from the Exome Variant Server NHS_000063 2/10563 2/6728 0/3835 - - - - - - -
?/? c.2426T>C r.(?) p.(Leu809Ser) g.17744715T>C Copied from the Exome Variant Server NHS_000064 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2433C>A r.(?) p.(His811Gln) g.17744722C>A Copied from the Exome Variant Server NHS_000065 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2450C>A r.(?) p.(Pro817Gln) g.17744739C>A Copied from the Exome Variant Server NHS_000066 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2530G>A r.(?) p.(Ala844Thr) g.17744819G>A Copied from the Exome Variant Server NHS_000067 11/10563 10/6728 1/3835 - - - - - - -
?/? c.2600T>C r.(?) p.(Met867Thr) g.17744889T>C Copied from the Exome Variant Server NHS_000068 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2625C>T r.(=) p.(=) g.17744914C>T Copied from the Exome Variant Server NHS_000069 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2658C>T r.(=) p.(=) g.17744947C>T Copied from the Exome Variant Server NHS_000070 2/10563 2/6728 0/3835 - - - - - - -
?/? c.2686C>A r.(?) p.(Gln896Lys) g.17744975C>A Copied from the Exome Variant Server NHS_000071 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2690G>A r.(?) p.(Ser897Asn) g.17744979G>A Copied from the Exome Variant Server NHS_000073 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2729A>T r.(?) p.(Asp910Val) g.17745018A>T Copied from the Exome Variant Server NHS_000075 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2768A>T r.(?) p.(His923Leu) g.17745057A>T Copied from the Exome Variant Server NHS_000078 6/10563 2/6728 4/3835 - - - - - - -
?/? c.2817T>C r.(=) p.(=) g.17745106T>C Copied from the Exome Variant Server NHS_000080 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2846C>T r.(?) p.(Thr949Met) g.17745135C>T Copied from the Exome Variant Server NHS_000082 2/10563 1/6728 1/3835 - - - - - - -
?/? c.2869A>G r.(?) p.(Ile957Val) g.17745158A>G Copied from the Exome Variant Server NHS_000083 2/10563 0/6728 2/3835 - - - - - - -
?/? c.2938C>T r.(?) p.(Pro980Ser) g.17745227C>T Copied from the Exome Variant Server NHS_000085 1/10561 1/6726 0/3835 - - - - - - -
?/? c.3005_3014del r.(?) p.(Ser1002Lysfs*43) g.17745294_17745303del Copied from the Exome Variant Server NHS_000087 4/10203 3/6483 1/3720 - - - - - - -
?/? c.3117A>G r.(=) p.(=) g.17745406A>G Copied from the Exome Variant Server NHS_000072 1/10563 1/6728 0/3835 - - - - - - -
?/? c.3138T>C r.(=) p.(=) g.17745427T>C Copied from the Exome Variant Server NHS_000074 332/10563 5/6728 327/3835 - - - - - - -
?/? c.3141A>G r.(=) p.(=) g.17745430A>G Copied from the Exome Variant Server NHS_000076 333/10563 5/6728 328/3835 - - - - - - -
?/? c.3194C>T r.(?) p.(Pro1065Leu) g.17745483C>T Copied from the Exome Variant Server NHS_000077 1/10563 0/6728 1/3835 - - - - - - -
?/? c.3308G>A r.(?) p.(Arg1103Lys) g.17745597G>A Copied from the Exome Variant Server NHS_000079 1/10563 1/6728 0/3835 - - - - - - -
?/? c.3311C>T r.(?) p.(Ser1104Leu) g.17745600C>T Copied from the Exome Variant Server NHS_000081 3/10563 1/6728 2/3835 - - - - - - -
?/? c.3345G>A r.(=) p.(=) g.17745634G>A Copied from the Exome Variant Server NHS_000084 1/10563 0/6728 1/3835 - - - - - - -
?/? c.3384T>C r.(=) p.(=) g.17745673T>C Copied from the Exome Variant Server NHS_000086 1/10563 1/6728 0/3835 - - - - - - -
?/? c.3411C>G r.(?) p.(Asn1137Lys) g.17745700C>G Copied from the Exome Variant Server NHS_000088 1/10563 1/6728 0/3835 - - - - - - -
?/? c.3452C>T r.(?) p.(Thr1151Met) g.17745741C>T Copied from the Exome Variant Server NHS_000089 2/10563 0/6728 2/3835 - - - - - - -
?/? c.3463T>C r.(?) p.(Ser1155Pro) g.17745752T>C Copied from the Exome Variant Server NHS_000090 1/10563 0/6728 1/3835 - - - - - - -
?/? c.3482C>T r.(?) p.(Pro1161Leu) g.17745771C>T Copied from the Exome Variant Server NHS_000091 23/10563 0/6728 23/3835 - - - - - - -
?/? c.3576T>A r.(?) p.(Asp1192Glu) g.17745865T>A Copied from the Exome Variant Server NHS_000092 1/10563 0/6728 1/3835 - - - - - - -
?/? c.3583C>T r.(?) p.(His1195Tyr) g.17745872C>T Copied from the Exome Variant Server NHS_000093 1/10563 1/6728 0/3835 - - - - - - -
?/? c.3624C>T r.(=) p.(=) g.17745913C>T Copied from the Exome Variant Server NHS_000094 3/10563 0/6728 3/3835 - - - - - - -
?/? c.3722C>T r.(?) p.(Thr1241Met) g.17746011C>T Copied from the Exome Variant Server NHS_000095 5/10563 1/6728 4/3835 - - - - - - -
?/? c.3723G>A r.(=) p.(=) g.17746012G>A Copied from the Exome Variant Server NHS_000096 3/10563 3/6728 0/3835 - - - - - - -
?/? c.3736T>C r.(?) p.(Cys1246Arg) g.17746025T>C Copied from the Exome Variant Server NHS_000097 1/10563 1/6728 0/3835 - - - - - - -
?/? c.3779G>A r.(?) p.(Arg1260His) g.17746068G>A Copied from the Exome Variant Server NHS_000098 2/10563 0/6728 2/3835 - - - - - - -
?/? c.3866G>T r.(?) p.(Gly1289Val) g.17746155G>T Copied from the Exome Variant Server NHS_000099 8/10563 8/6728 0/3835 - - - - - - -
?/? c.3896T>C r.(?) p.(Val1299Ala) g.17746185T>C Copied from the Exome Variant Server NHS_000100 2/10563 0/6728 2/3835 - - - - - - -
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