All transcript variants in gene SH2D7

Information The variants shown are described using the NM_001101404.1 transcript reference sequence.

64 entries on 1 page. Showing entries 1 - 64.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.33G>A r.(=) p.(=) g.78384959G>A Copied from the Exome Variant Server SH2D7_000001 1/12300 0/8272 1/4028
?/? c.75G>A r.(=) p.(=) g.78385001G>A Copied from the Exome Variant Server SH2D7_000002 1/12308 0/8304 1/4004
?/? c.118C>T r.(?) p.(Pro40Ser) g.78385044C>T Copied from the Exome Variant Server SH2D7_000003 1/12294 1/8306 0/3988
?/? c.135C>T r.(=) p.(=) g.78385061C>T Copied from the Exome Variant Server SH2D7_000004 4/12276 2/8300 2/3976
?/? c.136G>A r.(?) p.(Gly46Ser) g.78385062G>A Copied from the Exome Variant Server SH2D7_000005 42/12288 2/8298 40/3990
?/? c.176+17C>T r.(=) p.(=) g.78385119C>T Copied from the Exome Variant Server SH2D7_000006 1/12132 1/8238 0/3894
?/? c.176+33G>A r.(=) p.(=) g.78385135G>A Copied from the Exome Variant Server SH2D7_000007 1/12036 1/8210 0/3826
?/? c.177-46T>G r.(=) p.(=) g.78386408T>G Copied from the Exome Variant Server SH2D7_000008 1/12328 1/8320 0/4008
?/? c.206C>T r.(?) p.(Ala69Val) g.78386483C>T Copied from the Exome Variant Server SH2D7_000009 1/12512 1/8402 0/4110
?/? c.228C>A r.(=) p.(=) g.78386505C>A Copied from the Exome Variant Server SH2D7_000010 2/12448 1/8370 1/4078
?/? c.253A>G r.(?) p.(Ile85Val) g.78386530A>G Copied from the Exome Variant Server SH2D7_000011 1/12356 1/8348 0/4008
?/? c.266+46C>T r.(=) p.(=) g.78386589C>T Copied from the Exome Variant Server SH2D7_000012 1/12308 0/8316 1/3992
?/? c.267-47G>C r.(=) p.(=) g.78390224G>C Copied from the Exome Variant Server SH2D7_000013 44/12290 0/8310 44/3980
?/? c.316C>T r.(?) p.(Arg106Cys) g.78390320C>T Copied from the Exome Variant Server SH2D7_000014 1/12708 0/8448 1/4260
?/? c.317G>A r.(?) p.(Arg106His) g.78390321G>A Copied from the Exome Variant Server SH2D7_000015 1/12710 0/8446 1/4264
?/? c.342G>A r.(=) p.(=) g.78390346G>A Copied from the Exome Variant Server SH2D7_000016 2/12718 2/8454 0/4264
?/? c.371del r.(?) p.(His124Profs*15) g.78390375del Copied from the Exome Variant Server SH2D7_000017 2/12236 0/8112 2/4124
?/? c.389A>G r.(?) p.(Gln130Arg) g.78390393A>G Copied from the Exome Variant Server SH2D7_000018 3/12682 0/8438 3/4244
?/? c.410T>C r.(?) p.(Met137Thr) g.78390414T>C Copied from the Exome Variant Server SH2D7_000019 5722/12574 3563/8394 2159/4180
?/? c.432+17C>T r.(=) p.(=) g.78390453C>T Copied from the Exome Variant Server SH2D7_000020 1/12222 0/8270 1/3952
?/? c.433-13C>T r.(=) p.(=) g.78390713C>T Copied from the Exome Variant Server SH2D7_000021 3/12268 3/8324 0/3944
?/? c.479A>T r.(?) p.(Gln160Leu) g.78390772A>T Copied from the Exome Variant Server SH2D7_000022 1/12290 1/8300 0/3990
?/? c.512C>G r.(?) p.(Thr171Arg) g.78390805C>G Copied from the Exome Variant Server SH2D7_000023 6/12236 0/8294 6/3942
?/? c.513G>A r.(=) p.(=) g.78390806G>A Copied from the Exome Variant Server SH2D7_000024 2/12238 0/8294 2/3944
?/? c.531C>T r.(=) p.(=) g.78390824C>T Copied from the Exome Variant Server SH2D7_000025 8/12212 0/8292 8/3920
?/? c.542C>A r.(?) p.(Ala181Asp) g.78390835C>A Copied from the Exome Variant Server SH2D7_000026 3/12162 3/8276 0/3886
?/? c.543C>T r.(=) p.(=) g.78390836C>T Copied from the Exome Variant Server SH2D7_000027 1/12148 1/8270 0/3878
?/? c.573del r.(?) p.(Val192Serfs*12) g.78390866del Copied from the Exome Variant Server SH2D7_000028 1/11664 0/7934 1/3730
?/? c.593A>G r.(?) p.(Gln198Arg) g.78390886A>G Copied from the Exome Variant Server SH2D7_000029 1/12242 1/8300 0/3942
?/? c.600C>T r.(=) p.(=) g.78390893C>T Copied from the Exome Variant Server SH2D7_000030 1/12264 1/8310 0/3954
?/? c.616C>T r.(?) p.(Arg206Trp) g.78390909C>T Copied from the Exome Variant Server SH2D7_000031 2598/12384 1576/8356 1022/4028
?/? c.686C>A r.(?) p.(Ser229Tyr) g.78393281C>A Copied from the Exome Variant Server SH2D7_000032 7/12032 4/8242 3/3790
?/? c.694G>A r.(?) p.(Glu232Lys) g.78393289G>A Copied from the Exome Variant Server SH2D7_000033 1/12038 1/8246 0/3792
?/? c.757C>T r.(?) p.(Arg253Trp) g.78393352C>T Copied from the Exome Variant Server SH2D7_000034 32/12254 29/8314 3/3940
?/? c.786C>T r.(=) p.(=) g.78393381C>T Copied from the Exome Variant Server SH2D7_000035 1/12258 1/8310 0/3948
?/? c.829G>A r.(?) p.(Gly277Ser) g.78393424G>A Copied from the Exome Variant Server SH2D7_000036 1/12126 1/8256 0/3870
?/? c.839C>T r.(?) p.(Ala280Val) g.78393434C>T Copied from the Exome Variant Server SH2D7_000037 17/12112 15/8260 2/3852
?/? c.855A>G r.(=) p.(=) g.78393450A>G Copied from the Exome Variant Server SH2D7_000038 1/12038 1/8238 0/3800
?/? c.887G>T r.(?) p.(Gly296Val) g.78393482G>T Copied from the Exome Variant Server SH2D7_000039 1/11980 1/8224 0/3756
?/? c.891T>C r.(=) p.(=) g.78393486T>C Copied from the Exome Variant Server SH2D7_000040 1/11982 0/8224 1/3758
?/? c.1011A>G r.(=) p.(=) g.78393606A>G Copied from the Exome Variant Server SH2D7_000041 1/11970 1/8212 0/3758
?/? c.1013_1030del r.(?) p.(Ala339_Gln344del) g.78393608_78393625del Copied from the Exome Variant Server SH2D7_000042 6/11470 2/7862 4/3608
?/? c.1020G>A r.(=) p.(=) g.78393615G>A Copied from the Exome Variant Server SH2D7_000043 1/11964 0/8206 1/3758
?/? c.1049T>C r.(?) p.(Ile350Thr) g.78393644T>C Copied from the Exome Variant Server SH2D7_000044 4/12056 0/8236 4/3820
?/? c.1077C>T r.(=) p.(=) g.78393672C>T Copied from the Exome Variant Server SH2D7_000045 1/12130 1/8256 0/3874
?/? c.1095C>G r.(?) p.(Asp365Glu) g.78393690C>G Copied from the Exome Variant Server SH2D7_000046 1/12182 1/8276 0/3906
?/? c.1159G>A r.(?) p.(Ala387Thr) g.78393754G>A Copied from the Exome Variant Server SH2D7_000047 1/12068 0/8258 1/3810
?/? c.1196G>T r.(?) p.(Trp399Leu) g.78393791G>T Copied from the Exome Variant Server SH2D7_000048 3/12016 0/8230 3/3786
?/? c.1271C>G r.(?) p.(Ala424Gly) g.78393866C>G Copied from the Exome Variant Server SH2D7_000049 2/12172 2/8272 0/3900
?/? c.1280G>A r.(?) p.(Ser427Asn) g.78393875G>A Copied from the Exome Variant Server SH2D7_000050 1/12184 1/8282 0/3902
?/? c.1299A>G r.(=) p.(=) g.78393894A>G Copied from the Exome Variant Server SH2D7_000051 2/12204 2/8280 0/3924
?/? c.1304A>G r.(?) p.(Lys435Arg) g.78393899A>G Copied from the Exome Variant Server SH2D7_000052 2/12192 2/8272 0/3920
?/? c.1305+16G>C r.(=) p.(=) g.78393916G>C Copied from the Exome Variant Server SH2D7_000053 2/12182 1/8266 1/3916
?/? c.1305+24C>T r.(=) p.(=) g.78393924C>T Copied from the Exome Variant Server SH2D7_000054 11/12186 11/8268 0/3918
?/? c.1305+47C>T r.(=) p.(=) g.78393947C>T Copied from the Exome Variant Server SH2D7_000055 1/12146 0/8256 1/3890
?/? c.1306-35G>A r.(=) p.(=) g.78395772G>A Copied from the Exome Variant Server SH2D7_000056 1/11722 1/8028 0/3694
?/? c.1306-1G>C r.spl? p.? g.78395806G>C Copied from the Exome Variant Server SH2D7_000057 1/11894 1/8148 0/3746
?/? c.1306C>G r.(?) p.(Pro436Ala) g.78395807C>G Copied from the Exome Variant Server SH2D7_000058 1/11890 1/8146 0/3744
?/? c.1318C>T r.(?) p.(Arg440Trp) g.78395819C>T Copied from the Exome Variant Server SH2D7_000059 1/11910 1/8146 0/3764
?/? c.1324C>T r.(?) p.(Leu442Phe) g.78395825C>T Copied from the Exome Variant Server SH2D7_000060 1/11936 1/8154 0/3782
?/? c.1334C>T r.(?) p.(Thr445Met) g.78395835C>T Copied from the Exome Variant Server SH2D7_000061 1/11932 0/8160 1/3772
?/? c.1335G>A r.(=) p.(=) g.78395836G>A Copied from the Exome Variant Server SH2D7_000062 3/11942 1/8166 2/3776
?/? c.1354T>G r.(?) p.(*452Glyext*35) g.78395855T>G Copied from the Exome Variant Server SH2D7_000063 1/11892 1/8132 0/3760
?/? c.*14G>A r.(=) p.(=) g.78395871G>A Copied from the Exome Variant Server SH2D7_000064 1/11900 0/8146 1/3754
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