All transcript variants in gene SH3KBP1

Information The variants shown are described using the NM_031892.2 transcript reference sequence.

116 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.42C>T r.(=) p.(=) g.19854363G>A Copied from the Exome Variant Server SH3KBP1_000116 332/10563 4/6728 328/3835
?/? c.61A>G r.(?) p.(Ser21Gly) g.19854344T>C Copied from the Exome Variant Server SH3KBP1_000115 2/10563 0/6728 2/3835
?/? c.87C>T r.(=) p.(=) g.19854318G>A Copied from the Exome Variant Server SH3KBP1_000114 18/10563 0/6728 18/3835
?/? c.127G>A r.(?) p.(Gly43Ser) g.19854278C>T Copied from the Exome Variant Server SH3KBP1_000113 2/10563 2/6728 0/3835
?/? c.162+36379C>T r.(=) p.(=) g.19817864G>A Copied from the Exome Variant Server SH3KBP1_000112 1/3600 1/2391 0/1209
?/? c.162+36460A>G r.(=) p.(=) g.19817783T>C Copied from the Exome Variant Server SH3KBP1_000111 1/10563 0/6728 1/3835
?/? c.162+36464C>G r.(=) p.(=) g.19817779G>C Copied from the Exome Variant Server SH3KBP1_000110 8/10563 7/6728 1/3835
?/? c.162+36498_162+36499insAGTA r.(=) p.(=) g.19817744_19817745insTACT Copied from the Exome Variant Server SH3KBP1_000109 1/10205 1/6484 0/3721
?/? c.162+36525G>A r.(=) p.(=) g.19817718C>T Copied from the Exome Variant Server SH3KBP1_000108 2/10563 1/6728 1/3835
?/? c.163-32T>C r.(=) p.(=) g.19764591A>G Copied from the Exome Variant Server SH3KBP1_000107 1/10563 1/6728 0/3835
?/? c.226G>A r.(?) p.(Glu76Lys) g.19764496C>T Copied from the Exome Variant Server SH3KBP1_000106 1/10563 0/6728 1/3835
?/? c.264G>A r.(=) p.(=) g.19764458C>T Copied from the Exome Variant Server SH3KBP1_000105 2/10563 1/6728 1/3835
?/? c.286+17A>G r.(=) p.(=) g.19764419T>C Copied from the Exome Variant Server SH3KBP1_000104 1/10563 1/6728 0/3835
?/? c.286+44A>G r.(=) p.(=) g.19764392T>C Copied from the Exome Variant Server SH3KBP1_000103 1/10563 1/6728 0/3835
?/? c.287-137G>A r.(=) p.(=) g.19725239C>T Copied from the Exome Variant Server SH3KBP1_000102 1/4525 1/3107 0/1418
?/? c.287-134G>A r.(=) p.(=) g.19725236C>T Copied from the Exome Variant Server SH3KBP1_000101 6/4525 0/3107 6/1418
?/? c.287-128C>T r.(=) p.(=) g.19725230G>A Copied from the Exome Variant Server SH3KBP1_000100 9/4525 9/3107 0/1418
?/? c.287-41G>A r.(=) p.(=) g.19725143C>T Copied from the Exome Variant Server SH3KBP1_000099 1/10560 1/6725 0/3835
?/? c.327C>T r.(=) p.(=) g.19725062G>A Copied from the Exome Variant Server SH3KBP1_000098 2/10563 0/6728 2/3835
?/? c.342C>T r.(=) p.(=) g.19725047G>A Copied from the Exome Variant Server SH3KBP1_000097 1/10563 1/6728 0/3835
?/? c.390+15C>T r.(=) p.(=) g.19724984G>A Copied from the Exome Variant Server SH3KBP1_000096 10/10563 10/6728 0/3835
?/? c.391-28C>G r.(=) p.(=) g.19713887G>C Copied from the Exome Variant Server SH3KBP1_000095 1/10563 0/6728 1/3835
?/? c.391G>T r.(?) p.(Val131Leu) g.19713859C>A Copied from the Exome Variant Server SH3KBP1_000094 1/10563 0/6728 1/3835
?/? c.415G>A r.(?) p.(Val139Ile) g.19713835C>T Copied from the Exome Variant Server SH3KBP1_000093 3/10563 2/6728 1/3835
?/? c.477G>A r.(=) p.(=) g.19713773C>T Copied from the Exome Variant Server SH3KBP1_000092 6/10563 0/6728 6/3835
?/? c.520+43C>T r.(=) p.(=) g.19713687G>A Copied from the Exome Variant Server SH3KBP1_000091 2/10563 1/6728 1/3835
?/? c.520+580A>G r.(=) p.(=) g.19713150T>C Copied from the Exome Variant Server SH3KBP1_000090 1/4523 0/3105 1/1418
?/? c.520+608G>A r.(=) p.(=) g.19713122C>T Copied from the Exome Variant Server SH3KBP1_000089 1/4522 1/3104 0/1418
?/? c.520+666C>T r.(=) p.(=) g.19713064G>A Copied from the Exome Variant Server SH3KBP1_000088 8/4489 0/3081 8/1408
?/? c.521-3572G>T r.(=) p.(=) g.19705718C>A Copied from the Exome Variant Server SH3KBP1_000087 1/4525 1/3107 0/1418
?/? c.521-3542G>A r.(=) p.(=) g.19705688C>T Copied from the Exome Variant Server SH3KBP1_000086 31/4525 27/3107 4/1418
?/? c.543C>T r.(=) p.(=) g.19702124G>A Copied from the Exome Variant Server SH3KBP1_000085 2/10563 2/6728 0/3835
?/? c.565A>G r.(?) p.(Ser189Gly) g.19702102T>C Copied from the Exome Variant Server SH3KBP1_000084 1/10563 1/6728 0/3835
?/? c.657C>T r.(=) p.(=) g.19702010G>A Copied from the Exome Variant Server SH3KBP1_000083 1/10563 1/6728 0/3835
?/? c.716C>T r.(?) p.(Pro239Leu) g.19701951G>A Copied from the Exome Variant Server SH3KBP1_000082 3/10563 2/6728 1/3835
?/? c.726+32T>G r.(=) p.(=) g.19701909A>C Copied from the Exome Variant Server SH3KBP1_000081 1/10563 1/6728 0/3835
?/? c.726+37G>A r.(=) p.(=) g.19701904C>T Copied from the Exome Variant Server SH3KBP1_000080 8/10563 0/6728 8/3835
?/? c.726+492G>A r.(=) p.(=) g.19701449C>T Copied from the Exome Variant Server SH3KBP1_000079 1/4525 1/3107 0/1418
?/? c.726+12968_726+12969del r.(=) p.(=) g.19688972_19688973del Copied from the Exome Variant Server SH3KBP1_000078 640/4766 379/3241 261/1525
?/? c.727-2615A>T r.(=) p.(=) g.19666208T>A Copied from the Exome Variant Server SH3KBP1_000077 35/4525 6/3107 29/1418
?/? c.862A>G r.(?) p.(Ile288Val) g.19650017T>C Copied from the Exome Variant Server SH3KBP1_000076 1/10561 0/6728 1/3833
?/? c.897+13T>G r.(=) p.(=) g.19649969A>C Copied from the Exome Variant Server SH3KBP1_000075 160/10561 1/6728 159/3833
?/? c.897+32C>T r.(=) p.(=) g.19649950G>A Copied from the Exome Variant Server SH3KBP1_000074 1/10561 1/6728 0/3833
?/? c.897+38C>A r.(=) p.(=) g.19649944G>T Copied from the Exome Variant Server SH3KBP1_000073 3/10561 0/6728 3/3833
?/? c.898-35C>T r.(=) p.(=) g.19626198G>A Copied from the Exome Variant Server SH3KBP1_000072 1/10563 0/6728 1/3835
?/? c.909C>T r.(=) p.(=) g.19626152G>A Copied from the Exome Variant Server SH3KBP1_000071 1/10563 0/6728 1/3835
?/? c.910G>A r.(?) p.(Val304Ile) g.19626151C>T Copied from the Exome Variant Server SH3KBP1_000070 2/10563 2/6728 0/3835
?/? c.937G>A r.(?) p.(Gly313Ser) g.19626124C>T Copied from the Exome Variant Server SH3KBP1_000069 1/10563 1/6728 0/3835
?/? c.983C>T r.(?) p.(Pro328Leu) g.19626078G>A Copied from the Exome Variant Server SH3KBP1_000068 1/10563 1/6728 0/3835
?/? c.984G>A r.(=) p.(=) g.19626077C>T Copied from the Exome Variant Server SH3KBP1_000067 608/10563 7/6728 601/3835
?/? c.1005+28G>A r.(=) p.(=) g.19626028C>T Copied from the Exome Variant Server SH3KBP1_000066 1/10563 1/6728 0/3835
?/? c.1005+32T>C r.(=) p.(=) g.19626024A>G Copied from the Exome Variant Server SH3KBP1_000065 1/10563 1/6728 0/3835
?/? c.1006-25G>A r.(=) p.(=) g.19613143C>T Copied from the Exome Variant Server SH3KBP1_000064 2/10563 1/6728 1/3835
?/? c.1029A>C r.(=) p.(=) g.19613095T>G Copied from the Exome Variant Server SH3KBP1_000063 6/10563 6/6728 0/3835
?/? c.1033G>A r.(?) p.(Ala345Thr) g.19613091C>T Copied from the Exome Variant Server SH3KBP1_000062 2/10563 1/6728 1/3835
?/? c.1039G>A r.(?) p.(Val347Ile) g.19613085C>T Copied from the Exome Variant Server SH3KBP1_000061 2/10563 0/6728 2/3835
?/? c.1057+31A>G r.(=) p.(=) g.19613036T>C Copied from the Exome Variant Server SH3KBP1_000060 1/10563 1/6728 0/3835
?/? c.1057+36C>T r.(=) p.(=) g.19613031G>A Copied from the Exome Variant Server SH3KBP1_000059 1/10563 0/6728 1/3835
?/? c.1058-11T>C r.(=) p.(=) g.19610276A>G Copied from the Exome Variant Server SH3KBP1_000058 1/10563 1/6728 0/3835
?/? c.1074A>G r.(=) p.(=) g.19610249T>C Copied from the Exome Variant Server SH3KBP1_000057 1/10563 1/6728 0/3835
?/? c.1128A>G r.(=) p.(=) g.19610195T>C Copied from the Exome Variant Server SH3KBP1_000056 1/10563 1/6728 0/3835
?/? c.1138+12A>G r.(=) p.(=) g.19610173T>C Copied from the Exome Variant Server SH3KBP1_000055 21/10563 0/6728 21/3835
?/? c.1139-34G>A r.(=) p.(=) g.19606954C>T Copied from the Exome Variant Server SH3KBP1_000054 82/10563 74/6728 8/3835
?/? c.1182C>T r.(=) p.(=) g.19606877G>A Copied from the Exome Variant Server SH3KBP1_000053 3/10563 0/6728 3/3835
?/? c.1183G>A r.(?) p.(Val395Ile) g.19606876C>T Copied from the Exome Variant Server SH3KBP1_000052 5/10563 5/6728 0/3835
?/? c.1266G>A r.(=) p.(=) g.19606793C>T Copied from the Exome Variant Server SH3KBP1_000051 600/10563 7/6728 593/3835
?/? c.1275G>A r.(=) p.(=) g.19606784C>T Copied from the Exome Variant Server SH3KBP1_000050 1/10563 0/6728 1/3835
?/? c.1284G>A r.(=) p.(=) g.19606775C>T Copied from the Exome Variant Server SH3KBP1_000049 38/10563 0/6728 38/3835
?/? c.1298+22C>T r.(=) p.(=) g.19606739G>A Copied from the Exome Variant Server SH3KBP1_000048 1/10563 1/6728 0/3835
?/? c.1298+27C>T r.(=) p.(=) g.19606734G>A Copied from the Exome Variant Server SH3KBP1_000047 4/10563 0/6728 4/3835
?/? c.1298+39G>A r.(=) p.(=) g.19606722C>T Copied from the Exome Variant Server SH3KBP1_000046 1/10563 0/6728 1/3835
?/? c.1380C>A r.(?) p.(Asp460Glu) g.19587225G>T Copied from the Exome Variant Server SH3KBP1_000045 1/10563 1/6728 0/3835
?/? c.1384+11A>G r.(=) p.(=) g.19587210T>C Copied from the Exome Variant Server SH3KBP1_000044 3/10563 0/6728 3/3835
?/? c.1404C>T r.(=) p.(=) g.19568182G>A Copied from the Exome Variant Server SH3KBP1_000043 1/10563 0/6728 1/3835
?/? c.1410A>G r.(=) p.(=) g.19568176T>C Copied from the Exome Variant Server SH3KBP1_000042 27/10563 0/6728 27/3835
?/? c.1437G>A r.(=) p.(=) g.19568149C>T Copied from the Exome Variant Server SH3KBP1_000041 1/10563 0/6728 1/3835
?/? c.1488C>T r.(=) p.(=) g.19568098G>A Copied from the Exome Variant Server SH3KBP1_000040 2/10563 2/6728 0/3835
?/? c.1494+42A>G r.(=) p.(=) g.19568050T>C Copied from the Exome Variant Server SH3KBP1_000039 1/10563 1/6728 0/3835
?/? c.1495-3C>T r.spl? p.? g.19564171G>A Copied from the Exome Variant Server SH3KBP1_000038 1/10563 0/6728 1/3835
?/? c.1524C>T r.(=) p.(=) g.19564139G>A Copied from the Exome Variant Server SH3KBP1_000036 2/10563 2/6728 0/3835
?/? c.1536C>G r.(=) p.(=) g.19564127G>C Copied from the Exome Variant Server SH3KBP1_000034 2/10563 0/6728 2/3835
?/? c.1585G>A r.(?) p.(Ala529Thr) g.19564078C>T Copied from the Exome Variant Server SH3KBP1_000032 1/10563 0/6728 1/3835
?/? c.1615A>G r.(?) p.(Ile539Val) g.19564048T>C Copied from the Exome Variant Server SH3KBP1_000030 2/10563 2/6728 0/3835
?/? c.1621C>G r.(?) p.(Gln541Glu) g.19564042G>C Copied from the Exome Variant Server SH3KBP1_000028 35/10563 31/6728 4/3835
?/? c.1624-52C>T r.(=) p.(=) g.19560363G>A Copied from the Exome Variant Server SH3KBP1_000026 1/6019 0/3607 1/2412
?/? c.1624-34G>A r.(=) p.(=) g.19560345C>T Copied from the Exome Variant Server SH3KBP1_000024 2/10547 1/6720 1/3827
?/? c.1658C>T r.(?) p.(Pro553Leu) g.19560277G>A Copied from the Exome Variant Server SH3KBP1_000022 1/10560 1/6725 0/3835
?/? c.1659G>A r.(=) p.(=) g.19560276C>T Copied from the Exome Variant Server SH3KBP1_000020 2/10558 2/6723 0/3835
?/? c.1681G>A r.(?) p.(Gly561Ser) g.19560254C>T Copied from the Exome Variant Server SH3KBP1_000018 29/10561 26/6727 3/3834
?/? c.1699T>A r.(?) p.(Ser567Thr) g.19560236A>T Copied from the Exome Variant Server SH3KBP1_000037 4/10563 0/6728 4/3835
?/? c.1709C>T r.(?) p.(Ala570Val) g.19560226G>A Copied from the Exome Variant Server SH3KBP1_000035 1/10563 0/6728 1/3835
?/? c.1710G>A r.(=) p.(=) g.19560225C>T Copied from the Exome Variant Server SH3KBP1_000033 2/10563 1/6728 1/3835
?/? c.1719C>A r.(=) p.(=) g.19560216G>T Copied from the Exome Variant Server SH3KBP1_000031 2/10563 1/6728 1/3835
?/? c.1764G>A r.(=) p.(=) g.19560171C>T Copied from the Exome Variant Server SH3KBP1_000029 1/10563 1/6728 0/3835
?/? c.1774G>A r.(?) p.(Gly592Ser) g.19560161C>T Copied from the Exome Variant Server SH3KBP1_000027 1/10563 0/6728 1/3835
?/? c.1779G>A r.(=) p.(=) g.19560156C>T Copied from the Exome Variant Server SH3KBP1_000025 7/10563 7/6728 0/3835
?/? c.1805C>T r.(?) p.(Ala602Val) g.19560130G>A Copied from the Exome Variant Server SH3KBP1_000023 1/10563 1/6728 0/3835
?/? c.1806G>A r.(=) p.(=) g.19560129C>T Copied from the Exome Variant Server SH3KBP1_000021 14/10563 0/6728 14/3835
?/? c.1824C>T r.(=) p.(=) g.19560111G>A Copied from the Exome Variant Server SH3KBP1_000019 1/10563 1/6728 0/3835
?/? c.1830G>A r.(=) p.(=) g.19560105C>T Copied from the Exome Variant Server SH3KBP1_000017 13/10563 0/6728 13/3835
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