Unique variants in gene SH2B3

Information The variants shown are described using the NM_005475.2 transcript reference sequence.

92 entries on 1 page. Showing entries 1 - 92.
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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.-27-25G>A r.(=) p.(=) g.111855898G>A Copied from the Exome Variant Server SH2B3_000007 1/5734 1/3982 0/1752
1 c.-27-24del r.(=) p.(=) g.111855899del Copied from the Exome Variant Server SH2B3_000001 30/11308 16/7534 14/3774
1 c.1A>G r.? p.? g.111855950A>G Copied from the Exome Variant Server SH2B3_000002 1/12170 1/8160 0/4010
1 c.12T>C r.(=) p.(=) g.111855961T>C Copied from the Exome Variant Server SH2B3_000003 1/12260 0/8174 1/4086
1 c.238C>T r.(?) p.(Arg80Cys) g.111856187C>T Copied from the Exome Variant Server SH2B3_000004 59/8460 5/5700 54/2760
1 c.494C>G r.(?) p.(Thr165Ser) g.111856443C>G Copied from the Exome Variant Server SH2B3_000005 331/7266 8/5284 323/1982
1 c.540G>A r.(=) p.(=) g.111856489G>A Copied from the Exome Variant Server SH2B3_000006 3/8680 0/6160 3/2520
1 c.544T>C r.(?) p.(Phe182Leu) g.111856493T>C Copied from the Exome Variant Server SH2B3_000008 435/8700 11/6164 424/2536
1 c.557G>T r.(?) p.(Ser186Ile) g.111856506G>T Copied from the Exome Variant Server SH2B3_000009 34/8568 31/6040 3/2528
1 c.622G>C r.(?) p.(Glu208Gln) g.111856571G>C Copied from the Exome Variant Server SH2B3_000010 4/7770 4/5398 0/2372
1 c.733-40A>C r.(=) p.(=) g.111884517A>C Copied from the Exome Variant Server SH2B3_000011 5/13004 5/8598 0/4406
1 c.733-12T>C r.(=) p.(=) g.111884545T>C Copied from the Exome Variant Server SH2B3_000012 1/13006 0/8600 1/4406
1 c.733-10G>C r.(=) p.(=) g.111884547G>C Copied from the Exome Variant Server SH2B3_000013 41/13006 1/8600 40/4406
1 c.735T>C r.(=) p.(=) g.111884559T>C Copied from the Exome Variant Server SH2B3_000014 1/13006 1/8600 0/4406
1 c.757G>A r.(?) p.(Ala253Thr) g.111884581G>A Copied from the Exome Variant Server SH2B3_000015 1/13006 0/8600 1/4406
1 c.770T>C r.(?) p.(Ile257Thr) g.111884594T>C Copied from the Exome Variant Server SH2B3_000016 33/13006 1/8600 32/4406
1 c.784T>C r.(?) p.(Trp262Arg) g.111884608T>C Copied from the Exome Variant Server SH2B3_000017 8246/13006 4254/8600 3992/4406
1 c.794G>A r.(?) p.(Arg265Gln) g.111884618G>A Copied from the Exome Variant Server SH2B3_000018 5/13006 1/8600 4/4406
1 c.795G>A r.(=) p.(=) g.111884619G>A Copied from the Exome Variant Server SH2B3_000019 32/13006 0/8600 32/4406
1 c.834+21C>A r.(=) p.(=) g.111884679C>A Copied from the Exome Variant Server SH2B3_000020 1/13006 1/8600 0/4406
1 c.834+43A>C r.(=) p.(=) g.111884701A>C Copied from the Exome Variant Server SH2B3_000021 6/13006 6/8600 0/4406
1 c.835-36_835-35insA r.(=) p.(=) g.111884710_111884711insA Copied from the Exome Variant Server SH2B3_000022 1/12518 1/8254 0/4264
1 c.835-23C>G r.(=) p.(=) g.111884723C>G Copied from the Exome Variant Server SH2B3_000023 1/13006 1/8600 0/4406
1 c.845G>A r.(?) p.(Arg282Gln) g.111884756G>A Copied from the Exome Variant Server SH2B3_000024 1/13006 1/8600 0/4406
1 c.851A>G r.(?) p.(Asp284Gly) g.111884762A>G Copied from the Exome Variant Server SH2B3_000025 1/13006 1/8600 0/4406
1 c.855C>T r.(=) p.(=) g.111884766C>T Copied from the Exome Variant Server SH2B3_000026 1/13006 1/8600 0/4406
1 c.864G>A r.(=) p.(=) g.111884775G>A Copied from the Exome Variant Server SH2B3_000027 1/13006 0/8600 1/4406
1 c.901G>A r.(?) p.(Glu301Lys) g.111884812G>A Copied from the Exome Variant Server SH2B3_000028 1/13006 1/8600 0/4406
1 c.917C>A r.(?) p.(Thr306Lys) g.111884828C>A Copied from the Exome Variant Server SH2B3_000029 4/13006 0/8600 4/4406
1 c.923G>A r.(?) p.(Arg308Gln) g.111884834G>A Copied from the Exome Variant Server SH2B3_000030 1/13006 1/8600 0/4406
1 c.926+1G>A r.spl? p.? g.111884838G>A Copied from the Exome Variant Server SH2B3_000031 1/13006 1/8600 0/4406
1 c.927-36T>C r.(=) p.(=) g.111884893T>C Copied from the Exome Variant Server SH2B3_000032 3/13006 3/8600 0/4406
1 c.927-28T>A r.(=) p.(=) g.111884901T>A Copied from the Exome Variant Server SH2B3_000033 1/13006 1/8600 0/4406
1 c.927-20C>T r.(=) p.(=) g.111884909C>T Copied from the Exome Variant Server SH2B3_000034 1/13006 0/8600 1/4406
1 c.928C>G r.(?) p.(Leu310Val) g.111884930C>G Copied from the Exome Variant Server SH2B3_000035 1/13006 0/8600 1/4406
1 c.1000A>G r.(?) p.(Ser334Gly) g.111885002A>G Copied from the Exome Variant Server SH2B3_000036 10/13006 0/8600 10/4406
1 c.1021+26T>C r.(=) p.(=) g.111885049T>C Copied from the Exome Variant Server SH2B3_000037 1/13006 1/8600 0/4406
1 c.1021+30T>C r.(=) p.(=) g.111885053T>C Copied from the Exome Variant Server SH2B3_000038 1/13006 1/8600 0/4406
1 c.1022-46C>T r.(=) p.(=) g.111885088C>T Copied from the Exome Variant Server SH2B3_000039 3/13006 0/8600 3/4406
1 c.1022-35C>A r.(=) p.(=) g.111885099C>A Copied from the Exome Variant Server SH2B3_000040 1/13006 1/8600 0/4406
1 c.1022-29C>T r.(=) p.(=) g.111885105C>T Copied from the Exome Variant Server SH2B3_000041 6/13004 1/8598 5/4406
1 c.1022-15C>T r.(=) p.(=) g.111885119C>T Copied from the Exome Variant Server SH2B3_000042 2/13006 2/8600 0/4406
1 c.1022-14_1022-10del r.(=) p.(=) g.111885120_111885124del Copied from the Exome Variant Server SH2B3_000043 26/12518 24/8254 2/4264
1 c.1031C>T r.(?) p.(Pro344Leu) g.111885143C>T Copied from the Exome Variant Server SH2B3_000044 35/13006 1/8600 34/4406
1 c.1050G>A r.(=) p.(=) g.111885162G>A Copied from the Exome Variant Server SH2B3_000045 1/13006 1/8600 0/4406
1 c.1064C>T r.(?) p.(Thr355Met) g.111885176C>T Copied from the Exome Variant Server SH2B3_000046 1/13006 1/8600 0/4406
1 c.1065G>A r.(=) p.(=) g.111885177G>A Copied from the Exome Variant Server SH2B3_000048 1/13006 1/8600 0/4406
1 c.1109C>G r.(?) p.(Ser370Cys) g.111885221C>G Copied from the Exome Variant Server SH2B3_000050 1/13006 0/8600 1/4406
1 c.1137G>A r.(=) p.(=) g.111885249G>A Copied from the Exome Variant Server SH2B3_000052 1/13006 0/8600 1/4406
1 c.1158T>C r.(=) p.(=) g.111885270T>C Copied from the Exome Variant Server SH2B3_000054 1/13006 1/8600 0/4406
1 c.1183G>A r.(?) p.(Glu395Lys) g.111885295G>A Copied from the Exome Variant Server SH2B3_000056 8/13006 5/8600 3/4406
1 c.1188G>A r.(=) p.(=) g.111885300G>A Copied from the Exome Variant Server SH2B3_000047 1/13006 1/8600 0/4406
1 c.1198G>A r.(?) p.(Glu400Lys) g.111885310G>A Copied from the Exome Variant Server SH2B3_000049 16/13006 16/8600 0/4406
1 c.1210A>G r.(?) p.(Thr404Ala) g.111885322A>G Copied from the Exome Variant Server SH2B3_000051 1/13006 0/8600 1/4406
1 c.1236+4_1236+13del r.spl? p.? g.111885352_111885361del Copied from the Exome Variant Server SH2B3_000053 16/11814 11/7898 5/3916
1 c.1236+9_1236+13del r.(=) p.(=) g.111885357_111885361del Copied from the Exome Variant Server SH2B3_000055 4080/11814 1683/7898 2397/3916
1 c.1236+10G>A r.(=) p.(=) g.111885358G>A Copied from the Exome Variant Server SH2B3_000057 1/12860 1/8510 0/4350
1 c.1236+40G>T r.(=) p.(=) g.111885388G>T Copied from the Exome Variant Server SH2B3_000058 1/13004 1/8598 0/4406
1 c.1236+48C>T r.(=) p.(=) g.111885396C>T Copied from the Exome Variant Server SH2B3_000059 1/13004 1/8598 0/4406
1 c.1237-26G>A r.(=) p.(=) g.111885434G>A Copied from the Exome Variant Server SH2B3_000060 35/13006 0/8600 35/4406
1 c.1237-22C>T r.(=) p.(=) g.111885438C>T Copied from the Exome Variant Server SH2B3_000061 2/13006 0/8600 2/4406
1 c.1240C>T r.(=) p.(=) g.111885463C>T Copied from the Exome Variant Server SH2B3_000062 2/13006 0/8600 2/4406
1 c.1243C>T r.(?) p.(Arg415Cys) g.111885466C>T Copied from the Exome Variant Server SH2B3_000063 1/13004 1/8598 0/4406
1 c.1257A>C r.(=) p.(=) g.111885480A>C Copied from the Exome Variant Server SH2B3_000064 2/13006 1/8600 1/4406
1 c.1262G>A r.(?) p.(Arg421Gln) g.111885485G>A Copied from the Exome Variant Server SH2B3_000065 1/13006 1/8600 0/4406
1 c.1267C>A r.(?) p.(Gln423Lys) g.111885490C>A Copied from the Exome Variant Server SH2B3_000066 1/13006 1/8600 0/4406
1 c.1273C>T r.(?) p.(Arg425Cys) g.111885496C>T Copied from the Exome Variant Server SH2B3_000067 1/13006 0/8600 1/4406
1 c.1285C>G r.(?) p.(Leu429Val) g.111885508C>G Copied from the Exome Variant Server SH2B3_000068 1/13006 1/8600 0/4406
1 c.1336A>G r.(?) p.(Ile446Val) g.111885559A>G Copied from the Exome Variant Server SH2B3_000069 1/13006 1/8600 0/4406
1 c.1360T>C r.(?) p.(Cys454Arg) g.111885583T>C Copied from the Exome Variant Server SH2B3_000070 1/13006 1/8600 0/4406
1 c.1368C>T r.(=) p.(=) g.111885591C>T Copied from the Exome Variant Server SH2B3_000071 6/13006 6/8600 0/4406
1 c.1392C>T r.(=) p.(=) g.111885615C>T Copied from the Exome Variant Server SH2B3_000072 1/13006 0/8600 1/4406
1 c.1393G>A r.(?) p.(Val465Ile) g.111885616G>A Copied from the Exome Variant Server SH2B3_000073 2/13006 2/8600 0/4406
1 c.1401A>G r.(=) p.(=) g.111885624A>G Copied from the Exome Variant Server SH2B3_000074 1/13006 1/8600 0/4406
1 c.1408+10T>C r.(=) p.(=) g.111885641T>C Copied from the Exome Variant Server SH2B3_000075 1/13006 1/8600 0/4406
1 c.1408+51G>A r.(=) p.(=) g.111885682G>A Copied from the Exome Variant Server SH2B3_000076 1/13006 0/8600 1/4406
1 c.1409-23_1409-22del r.(=) p.(=) g.111885764_111885765del Copied from the Exome Variant Server SH2B3_000077 16/12518 15/8254 1/4264
1 c.1421C>T r.(?) p.(Thr474Met) g.111885799C>T Copied from the Exome Variant Server SH2B3_000078 2/13006 2/8600 0/4406
1 c.1426C>T r.(?) p.(Leu476Phe) g.111885804C>T Copied from the Exome Variant Server SH2B3_000079 5/13006 4/8600 1/4406
1 c.1448A>T r.(?) p.(His483Leu) g.111885826A>T Copied from the Exome Variant Server SH2B3_000080 1/13006 1/8600 0/4406
1 c.1523G>A r.(?) p.(Arg508Gln) g.111885901G>A Copied from the Exome Variant Server SH2B3_000081 49/13006 1/8600 48/4406
1 c.1552C>T r.(?) p.(Arg518*) g.111885930C>T Copied from the Exome Variant Server SH2B3_000082 1/13006 1/8600 0/4406
1 c.1592C>T r.(?) p.(Ser531Leu) g.111885970C>T Copied from the Exome Variant Server SH2B3_000083 1/13006 0/8600 1/4406
1 c.1593G>A r.(=) p.(=) g.111885971G>A Copied from the Exome Variant Server SH2B3_000084 2/13006 0/8600 2/4406
1 c.1606G>A r.(?) p.(Ala536Thr) g.111885984G>A Copied from the Exome Variant Server SH2B3_000085 1/13006 0/8600 1/4406
1 c.1696C>T r.(?) p.(Arg566Trp) g.111886074C>T Copied from the Exome Variant Server SH2B3_000086 5/13006 5/8600 0/4406
1 c.1697G>A r.(?) p.(Arg566Gln) g.111886075G>A Copied from the Exome Variant Server SH2B3_000087 2/13006 2/8600 0/4406
1 c.1703T>C r.(?) p.(Ile568Thr) g.111886081T>C Copied from the Exome Variant Server SH2B3_000088 1/13006 1/8600 0/4406
1 c.*14C>G r.(=) p.(=) g.111886120C>G Copied from the Exome Variant Server SH2B3_000089 3/13006 0/8600 3/4406
1 c.*24A>C r.(=) p.(=) g.111886130A>C Copied from the Exome Variant Server SH2B3_000090 1/13006 0/8600 1/4406
1 c.*26A>G r.(=) p.(=) g.111886132A>G Copied from the Exome Variant Server SH2B3_000091 1/13006 0/8600 1/4406
1 c.*48C>T r.(=) p.(=) g.111886154C>T Copied from the Exome Variant Server SH2B3_000092 1/12998 0/8598 1/4400
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