All transcript variants in gene SOS1

Information The variants shown are described using the NM_005633.3 transcript reference sequence.

174 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     
?/? c.73C>T r.(?) p.(Pro25Ser) g.39347491G>A Copied from the Exome Variant Server SOS1_000174 15/12988 0/8590 15/4398
?/? c.87+12G>T r.(=) p.(=) g.39347465C>A Copied from the Exome Variant Server SOS1_000173 1/12958 1/8570 0/4388
?/? c.87+15G>C r.(=) p.(=) g.39347462C>G Copied from the Exome Variant Server SOS1_000172 4/12954 0/8566 4/4388
?/? c.109A>G r.(?) p.(Thr37Ala) g.39294873T>C Copied from the Exome Variant Server SOS1_000171 2/13006 2/8600 0/4406
?/? c.115G>A r.(?) p.(Glu39Lys) g.39294867C>T Copied from the Exome Variant Server SOS1_000170 1/13006 0/8600 1/4406
?/? c.143T>C r.(?) p.(Val48Ala) g.39294839A>G Copied from the Exome Variant Server SOS1_000169 2/13006 2/8600 0/4406
?/? c.195A>C r.(=) p.(=) g.39294787T>G Copied from the Exome Variant Server SOS1_000168 517/13006 5/8600 512/4406
?/? c.204_205insA r.(?) p.(Asp69Argfs*15) g.39294777_39294778insT Copied from the Exome Variant Server SOS1_000167 1/12520 0/8254 1/4266
?/? c.213+14_213+16del r.(=) p.(=) g.39294753_39294755del Copied from the Exome Variant Server SOS1_000166 17/12520 11/8254 6/4266
?/? c.213+16T>C r.(=) p.(=) g.39294753A>G Copied from the Exome Variant Server SOS1_000165 17/13006 0/8600 17/4406
?/? c.213+22A>G r.(=) p.(=) g.39294747T>C Copied from the Exome Variant Server SOS1_000164 1/13006 1/8600 0/4406
?/? c.213+26A>G r.(=) p.(=) g.39294743T>C Copied from the Exome Variant Server SOS1_000163 1/13006 1/8600 0/4406
?/? c.213+30del r.(=) p.(=) g.39294739del Copied from the Exome Variant Server SOS1_000162 47/12520 4/8254 43/4266
?/? c.214-17T>C r.(=) p.(=) g.39285962A>G Copied from the Exome Variant Server SOS1_000161 2/12992 0/8594 2/4398
?/? c.214-10A>G r.(=) p.(=) g.39285955T>C Copied from the Exome Variant Server SOS1_000160 1/12996 0/8594 1/4402
?/? c.216A>G r.(=) p.(=) g.39285943T>C Copied from the Exome Variant Server SOS1_000159 3/13004 2/8600 1/4404
?/? c.233T>G r.(?) p.(Phe78Cys) g.39285926A>C Copied from the Exome Variant Server SOS1_000158 2/13002 2/8600 0/4402
?/? c.280A>G r.(?) p.(Ile94Val) g.39285879T>C Copied from the Exome Variant Server SOS1_000157 3/13004 0/8598 3/4406
?/? c.303C>T r.(=) p.(=) g.39285856G>A Copied from the Exome Variant Server SOS1_000156 1/13006 1/8600 0/4406
?/? c.345+7C>G r.(=) p.(=) g.39285807G>C Copied from the Exome Variant Server SOS1_000155 1/13006 1/8600 0/4406
?/? c.345+13_345+14insCT r.(=) p.(=) g.39285800_39285801insAG Copied from the Exome Variant Server SOS1_000154 12/12520 10/8254 2/4266
?/? c.345+15C>T r.(=) p.(=) g.39285799G>A Copied from the Exome Variant Server SOS1_000153 54/13006 0/8600 54/4406
?/? c.345+52C>G r.(=) p.(=) g.39285762G>C Copied from the Exome Variant Server SOS1_000151 266/5732 52/3982 214/1750
?/? c.346-38A>G r.(=) p.(=) g.39284045T>C Copied from the Exome Variant Server SOS1_000149 9/12958 0/8578 9/4380
?/? c.510+32_510+33del r.(=) p.(=) g.39283810_39283811del Copied from the Exome Variant Server SOS1_000147 2/12516 1/8250 1/4266
?/? c.511-43G>T r.(=) p.(=) g.39282007C>A Copied from the Exome Variant Server SOS1_000145 1/12236 1/8338 0/3898
?/? c.511-39C>G r.(=) p.(=) g.39282003G>C Copied from the Exome Variant Server SOS1_000143 1/12268 1/8364 0/3904
?/? c.511-23T>G r.(=) p.(=) g.39281987A>C Copied from the Exome Variant Server SOS1_000141 2/12452 0/8428 2/4024
?/? c.553A>G r.(?) p.(Ile185Val) g.39281922T>C Copied from the Exome Variant Server SOS1_000152 1/12972 1/8584 0/4388
?/? c.570C>T r.(=) p.(=) g.39281905G>A Copied from the Exome Variant Server SOS1_000150 45/12994 39/8592 6/4402
?/? c.599C>G r.(?) p.(Thr200Ser) g.39281876G>C Copied from the Exome Variant Server SOS1_000148 1/13000 1/8594 0/4406
?/? c.638G>A r.(?) p.(Arg213Gln) g.39281837C>T Copied from the Exome Variant Server SOS1_000146 1/12986 0/8580 1/4406
?/? c.675T>G r.(=) p.(=) g.39281800A>C Copied from the Exome Variant Server SOS1_000144 1/12982 1/8578 0/4404
?/? c.678T>C r.(=) p.(=) g.39281797A>G Copied from the Exome Variant Server SOS1_000142 1/12982 1/8578 0/4404
?/? c.698A>G r.(?) p.(Asn233Ser) g.39281777T>C Copied from the Exome Variant Server SOS1_000140 5/12980 0/8576 5/4404
?/? c.720+9C>T r.(=) p.(=) g.39281746G>A Copied from the Exome Variant Server SOS1_000139 1/12978 1/8580 0/4398
?/? c.720+15A>G r.(=) p.(=) g.39281740T>C Copied from the Exome Variant Server SOS1_000138 1/12978 0/8580 1/4398
?/? c.720+23C>T r.(=) p.(=) g.39281732G>A Copied from the Exome Variant Server SOS1_000137 1/12976 0/8580 1/4396
?/? c.720+25C>G r.(=) p.(=) g.39281730G>C Copied from the Exome Variant Server SOS1_000136 12163/12976 7901/8580 4262/4396
?/? c.721-55_721-52del r.(=) p.(=) g.39278480_39278483del Copied from the Exome Variant Server SOS1_000135 413/12342 7/8194 406/4148
?/? c.721-37_721-36insA r.(=) p.(=) g.39278464_39278465insT Copied from the Exome Variant Server SOS1_000134 2/12506 0/8248 2/4258
?/? c.749T>C r.(?) p.(Val250Ala) g.39278400A>G Copied from the Exome Variant Server SOS1_000133 6/13006 0/8600 6/4406
?/? c.864+12A>C r.(=) p.(=) g.39278273T>G Copied from the Exome Variant Server SOS1_000132 1/13006 1/8600 0/4406
?/? c.864+26A>G r.(=) p.(=) g.39278259T>C Copied from the Exome Variant Server SOS1_000131 4/13006 4/8600 0/4406
?/? c.864+32del r.(=) p.(=) g.39278253del Copied from the Exome Variant Server SOS1_000130 1/12520 1/8254 0/4266
?/? c.864+35A>C r.(=) p.(=) g.39278250T>G Copied from the Exome Variant Server SOS1_000129 3/13006 0/8600 3/4406
?/? c.865-49G>A r.(=) p.(=) g.39262690C>T Copied from the Exome Variant Server SOS1_000128 59/12970 0/8592 59/4378
?/? c.865-25T>A r.(=) p.(=) g.39262666A>T Copied from the Exome Variant Server SOS1_000127 1/13002 1/8596 0/4406
?/? c.929G>A r.(?) p.(Arg310His) g.39262577C>T Copied from the Exome Variant Server SOS1_000126 2/13006 2/8600 0/4406
?/? c.935T>G r.(?) p.(Leu312Arg) g.39262571A>C Copied from the Exome Variant Server SOS1_000125 1/13006 1/8600 0/4406
?/? c.962C>T r.(?) p.(Ala321Val) g.39262544G>A Copied from the Exome Variant Server SOS1_000124 1/13006 1/8600 0/4406
?/? c.975+23A>G r.(=) p.(=) g.39262508T>C Copied from the Exome Variant Server SOS1_000123 1/13006 1/8600 0/4406
?/? c.976-22del r.(=) p.(=) g.39262473del Copied from the Exome Variant Server SOS1_000122 52/12520 25/8254 27/4266
?/? c.976-22dup r.(=) p.(=) g.39262473dup Copied from the Exome Variant Server SOS1_000121 40/12520 7/8254 33/4266
?/? c.976-6_976-5del r.spl? p.? g.39262456_39262457del Copied from the Exome Variant Server SOS1_000120 27/12520 21/8254 6/4266
?/? c.1074+5G>C r.spl? p.? g.39262348C>G Copied from the Exome Variant Server SOS1_000119 76/13004 70/8600 6/4404
?/? c.1074+10C>G r.(=) p.(=) g.39262343G>C Copied from the Exome Variant Server SOS1_000118 1/13004 0/8600 1/4404
?/? c.1075-52_1075-50del r.(=) p.(=) g.39251328_39251330del Copied from the Exome Variant Server SOS1_000117 4/12496 3/8236 1/4260
?/? c.1202+48G>C r.(=) p.(=) g.39251103C>G Copied from the Exome Variant Server SOS1_000116 1/12968 0/8584 1/4384
?/? c.1203-27C>T r.(=) p.(=) g.39250393G>A Copied from the Exome Variant Server SOS1_000115 2/12818 0/8452 2/4366
?/? c.1203-20T>C r.(=) p.(=) g.39250386A>G Copied from the Exome Variant Server SOS1_000114 111/12878 65/8496 46/4382
?/? c.1203-13T>A r.(=) p.(=) g.39250379A>T Copied from the Exome Variant Server SOS1_000113 4/12896 0/8522 4/4374
?/? c.1230G>A r.(=) p.(=) g.39250339C>T Copied from the Exome Variant Server SOS1_000112 3/12998 2/8594 1/4404
?/? c.1251A>C r.(=) p.(=) g.39250318T>G Copied from the Exome Variant Server SOS1_000111 1/13006 1/8600 0/4406
?/? c.1269C>G r.(?) p.(Asn423Lys) g.39250300G>C Copied from the Exome Variant Server SOS1_000110 1/13006 0/8600 1/4406
?/? c.1303A>G r.(?) p.(Lys435Glu) g.39250266T>C Copied from the Exome Variant Server SOS1_000109 1/13006 1/8600 0/4406
?/? c.1434A>T r.(=) p.(=) g.39250135T>A Copied from the Exome Variant Server SOS1_000108 1/13006 0/8600 1/4406
?/? c.1454A>G r.(?) p.(Asn485Ser) g.39250115T>C Copied from the Exome Variant Server SOS1_000107 1/13006 1/8600 0/4406
?/? c.1457C>G r.(?) p.(Ala486Gly) g.39250112G>C Copied from the Exome Variant Server SOS1_000106 1/13006 1/8600 0/4406
?/? c.1490G>A r.(?) p.(Arg497Gln) g.39250079C>T Copied from the Exome Variant Server SOS1_000105 1/13002 1/8596 0/4406
?/? c.1537G>T r.(?) p.(Ala513Ser) g.39250032C>A Copied from the Exome Variant Server SOS1_000104 1/12998 1/8594 0/4404
?/? c.1566T>C r.(=) p.(=) g.39250003A>G Copied from the Exome Variant Server SOS1_000103 1/13004 0/8598 1/4406
?/? c.1574T>C r.(?) p.(Ile525Thr) g.39249995A>G Copied from the Exome Variant Server SOS1_000102 1/13006 1/8600 0/4406
?/? c.1621T>C r.(=) p.(=) g.39249948A>G Copied from the Exome Variant Server SOS1_000100 1/13006 1/8600 0/4406
?/? c.1638C>T r.(=) p.(=) g.39249931G>A Copied from the Exome Variant Server SOS1_000098 1/13006 1/8600 0/4406
?/? c.1640G>A r.(?) p.(Arg547Gln) g.39249929C>T Copied from the Exome Variant Server SOS1_000095 1/13006 1/8600 0/4406
?/? c.1647A>G r.(=) p.(=) g.39249922T>C Copied from the Exome Variant Server SOS1_000093 3/13006 0/8600 3/4406
?/? c.1668A>C r.(=) p.(=) g.39249901T>G Copied from the Exome Variant Server SOS1_000091 1/13006 0/8600 1/4406
?/? c.1672A>G r.(?) p.(Met558Val) g.39249897T>C Copied from the Exome Variant Server SOS1_000101 1/13006 0/8600 1/4406
?/? c.1705C>G r.(?) p.(Leu569Val) g.39249864G>C Copied from the Exome Variant Server SOS1_000099 2/13006 2/8600 0/4406
?/? c.1798A>C r.(?) p.(Ile600Leu) g.39249771T>G Copied from the Exome Variant Server SOS1_000097 1/13006 1/8600 0/4406
?/? c.1858+11T>C r.(=) p.(=) g.39249700A>G Copied from the Exome Variant Server SOS1_000096 1/13000 0/8594 1/4406
?/? c.1858+29_1858+30del r.(=) p.(=) g.39249681_39249682del Copied from the Exome Variant Server SOS1_000094 1/12508 0/8248 1/4260
?/? c.1859-40T>C r.(=) p.(=) g.39242027A>G Copied from the Exome Variant Server SOS1_000092 25/12880 19/8532 6/4348
?/? c.1859-23A>G r.(=) p.(=) g.39242010T>C Copied from the Exome Variant Server SOS1_000090 1/12934 0/8556 1/4378
?/? c.1859-3T>C r.spl? p.? g.39241990A>G Copied from the Exome Variant Server SOS1_000089 1/12964 1/8572 0/4392
?/? c.1865A>G r.(?) p.(Asn622Ser) g.39241981T>C Copied from the Exome Variant Server SOS1_000088 1/12978 1/8582 0/4396
?/? c.1940+34T>C r.(=) p.(=) g.39241872A>G Copied from the Exome Variant Server SOS1_000087 73/12640 1/8442 72/4198
?/? c.1941-44C>T r.(=) p.(=) g.39241174G>A Copied from the Exome Variant Server SOS1_000086 249/12916 2/8574 247/4342
?/? c.1941-34A>T r.(=) p.(=) g.39241164T>A Copied from the Exome Variant Server SOS1_000085 50/12970 0/8588 50/4382
?/? c.1941-12A>G r.(=) p.(=) g.39241142T>C Copied from the Exome Variant Server SOS1_000084 1/12986 0/8590 1/4396
?/? c.1953A>G r.(=) p.(=) g.39241118T>C Copied from the Exome Variant Server SOS1_000083 7/13004 5/8598 2/4406
?/? c.1962G>A r.(=) p.(=) g.39241109C>T Copied from the Exome Variant Server SOS1_000082 6/13006 5/8600 1/4406
?/? c.1964C>T r.(?) p.(Pro655Leu) g.39241107G>A Copied from the Exome Variant Server SOS1_000081 93/13006 84/8600 9/4406
?/? c.1990G>C r.(?) p.(Glu664Gln) g.39241081C>G Copied from the Exome Variant Server SOS1_000080 1/13006 0/8600 1/4406
?/? c.2063+44T>C r.(=) p.(=) g.39240964A>G Copied from the Exome Variant Server SOS1_000079 3/13002 1/8596 2/4406
?/? c.2122G>A r.(?) p.(Ala708Thr) g.39240646C>T Copied from the Exome Variant Server SOS1_000078 3/13006 1/8600 2/4406
?/? c.2132T>C r.(?) p.(Leu711Ser) g.39240636A>G Copied from the Exome Variant Server SOS1_000077 1/13002 1/8596 0/4406
?/? c.2134C>A r.(?) p.(Gln712Lys) g.39240634G>T Copied from the Exome Variant Server SOS1_000076 1/13002 1/8596 0/4406
?/? c.2158A>G r.(?) p.(Thr720Ala) g.39240610T>C Copied from the Exome Variant Server SOS1_000075 2/13002 0/8596 2/4406
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