Full data view for gene STARD8

Information The variants shown are described using the NM_014725.4 transcript reference sequence.

167 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.-154C>G r.(=) p.(=) g.67867729C>G Copied from the Exome Variant Server STARD8_000001 2/8116 0/5493 2/2623 - - - - - - -
?/? c.-114+10T>C r.(=) p.(=) g.67867779T>C Copied from the Exome Variant Server STARD8_000002 1/8108 0/5485 1/2623 - - - - - - -
?/? c.-113-41A>G r.(=) p.(=) g.67885300A>G Copied from the Exome Variant Server STARD8_000003 1/8122 1/5496 0/2626 - - - - - - -
?/? c.-113-23_-113-21del r.(=) p.(=) g.67885318_67885320del Copied from the Exome Variant Server STARD8_000004 160/8697 37/5645 123/3052 - - - - - - -
?/? c.-111C>T r.(=) p.(=) g.67885343C>T Copied from the Exome Variant Server STARD8_000005 43/8125 0/5498 43/2627 - - - - - - -
?/? c.-80+10C>T r.(=) p.(=) g.67885384C>T Copied from the Exome Variant Server STARD8_000006 243/8124 2/5497 241/2627 - - - - - - -
?/? c.-74G>A r.(=) p.(=) g.67932761G>A Copied from the Exome Variant Server STARD8_000007 1/8125 1/5498 0/2627 - - - - - - -
?/? c.-8+63G>A r.(=) p.(=) g.67932890G>A Copied from the Exome Variant Server STARD8_000008 508/3600 11/2391 497/1209 - - - - - - -
?/? c.-7-1070T>C r.(=) p.(=) g.67935140T>C Copied from the Exome Variant Server STARD8_000009 1/8124 1/5497 0/2627 - - - - - - -
?/? c.-7-1067G>A r.(=) p.(=) g.67935143G>A Copied from the Exome Variant Server STARD8_000010 70/8124 14/5497 56/2627 - - - - - - -
?/? c.-7-1018G>A r.(=) p.(=) g.67935192G>A Copied from the Exome Variant Server STARD8_000011 1/8125 1/5498 0/2627 - - - - - - -
?/? c.-7-950C>A r.(=) p.(=) g.67935260C>A Copied from the Exome Variant Server STARD8_000012 1/8107 1/5487 0/2620 - - - - - - -
?/? c.-1G>A r.(=) p.(=) g.67936216G>A Copied from the Exome Variant Server STARD8_000013 101/10563 0/6728 101/3835 - - - - - - -
?/? c.23C>T r.(?) p.(Ser8Leu) g.67936239C>T Copied from the Exome Variant Server STARD8_000014 1/10563 0/6728 1/3835 - - - - - - -
?/? c.57+18G>A r.(=) p.(=) g.67936291G>A Copied from the Exome Variant Server STARD8_000015 1/10563 1/6728 0/3835 - - - - - - -
?/? c.57+46G>A r.(=) p.(=) g.67936319G>A Copied from the Exome Variant Server STARD8_000016 1/10563 0/6728 1/3835 - - - - - - -
?/? c.81G>T r.(?) p.(Glu27Asp) g.67937077G>T Copied from the Exome Variant Server STARD8_000017 1/10561 1/6728 0/3833 - - - - - - -
?/? c.98G>A r.(?) p.(Ser33Asn) g.67937094G>A Copied from the Exome Variant Server STARD8_000018 1/10562 1/6728 0/3834 - - - - - - -
?/? c.134C>T r.(?) p.(Ser45Phe) g.67937130C>T Copied from the Exome Variant Server STARD8_000019 2/10563 0/6728 2/3835 - - - - - - -
?/? c.136C>T r.(?) p.(Pro46Ser) g.67937132C>T Copied from the Exome Variant Server STARD8_000020 1/10563 1/6728 0/3835 - - - - - - -
?/? c.143G>A r.(?) p.(Gly48Glu) g.67937139G>A Copied from the Exome Variant Server STARD8_000021 2/10563 1/6728 1/3835 - - - - - - -
?/? c.160G>A r.(?) p.(Ala54Thr) g.67937156G>A Copied from the Exome Variant Server STARD8_000022 5/10562 0/6727 5/3835 - - - - - - -
?/? c.186G>A r.(=) p.(=) g.67937182G>A Copied from the Exome Variant Server STARD8_000023 1/10563 0/6728 1/3835 - - - - - - -
?/? c.189C>T r.(=) p.(=) g.67937185C>T Copied from the Exome Variant Server STARD8_000024 9/10563 2/6728 7/3835 - - - - - - -
?/? c.201G>C r.(?) p.(Glu67Asp) g.67937197G>C Copied from the Exome Variant Server STARD8_000025 34/10563 0/6728 34/3835 - - - - - - -
?/? c.205G>A r.(?) p.(Val69Ile) g.67937201G>A Copied from the Exome Variant Server STARD8_000026 1/10563 1/6728 0/3835 - - - - - - -
?/? c.217C>G r.(?) p.(Leu73Val) g.67937213C>G Copied from the Exome Variant Server STARD8_000027 1/10563 0/6728 1/3835 - - - - - - -
?/? c.225C>T r.(=) p.(=) g.67937221C>T Copied from the Exome Variant Server STARD8_000028 354/10562 1/6728 353/3834 - - - - - - -
?/? c.262G>C r.(?) p.(Glu88Gln) g.67937258G>C Copied from the Exome Variant Server STARD8_000029 2/10562 0/6728 2/3834 - - - - - - -
?/? c.279C>T r.(=) p.(=) g.67937275C>T Copied from the Exome Variant Server STARD8_000030 662/10563 613/6728 49/3835 - - - - - - -
?/? c.297C>A r.(=) p.(=) g.67937293C>A Copied from the Exome Variant Server STARD8_000031 39/10563 0/6728 39/3835 - - - - - - -
?/? c.310C>T r.(?) p.(Arg104Trp) g.67937306C>T Copied from the Exome Variant Server STARD8_000032 1/10562 1/6727 0/3835 - - - - - - -
?/? c.336C>A r.(=) p.(=) g.67937332C>A Copied from the Exome Variant Server STARD8_000033 1/10561 1/6727 0/3834 - - - - - - -
?/? c.367C>T r.(?) p.(Arg123Cys) g.67937363C>T Copied from the Exome Variant Server STARD8_000034 15/10563 0/6728 15/3835 - - - - - - -
?/? c.368G>T r.(?) p.(Arg123Leu) g.67937364G>T Copied from the Exome Variant Server STARD8_000035 1/10563 0/6728 1/3835 - - - - - - -
?/? c.374G>A r.(?) p.(Arg125His) g.67937370G>A Copied from the Exome Variant Server STARD8_000036 3/10563 3/6728 0/3835 - - - - - - -
?/? c.378C>A r.(?) p.(Asn126Lys) g.67937374C>A Copied from the Exome Variant Server STARD8_000037 1/10563 0/6728 1/3835 - - - - - - -
?/? c.413G>A r.(?) p.(Arg138Gln) g.67937409G>A Copied from the Exome Variant Server STARD8_000038 1/10563 1/6728 0/3835 - - - - - - -
?/? c.499A>G r.(?) p.(Ser167Gly) g.67937495A>G Copied from the Exome Variant Server STARD8_000039 6/10562 5/6727 1/3835 - - - - - - -
?/? c.506G>A r.(?) p.(Arg169His) g.67937502G>A Copied from the Exome Variant Server STARD8_000040 2/10563 2/6728 0/3835 - - - - - - -
?/? c.561C>T r.(=) p.(=) g.67937557C>T Copied from the Exome Variant Server STARD8_000041 2/10562 2/6727 0/3835 - - - - - - -
?/? c.562G>A r.(?) p.(Gly188Ser) g.67937558G>A Copied from the Exome Variant Server STARD8_000042 3/10563 3/6728 0/3835 - - - - - - -
?/? c.602G>A r.(?) p.(Trp201*) g.67937598G>A Copied from the Exome Variant Server STARD8_000043 1/10563 0/6728 1/3835 - - - - - - -
?/? c.641G>A r.(?) p.(Arg214Gln) g.67937637G>A Copied from the Exome Variant Server STARD8_000044 1/10563 1/6728 0/3835 - - - - - - -
?/? c.661G>A r.(?) p.(Val221Ile) g.67937657G>A Copied from the Exome Variant Server STARD8_000045 2/10563 0/6728 2/3835 - - - - - - -
?/? c.678A>C r.(?) p.(Lys226Asn) g.67937674A>C Copied from the Exome Variant Server STARD8_000046 7/10563 7/6728 0/3835 - - - - - - -
?/? c.698C>G r.(?) p.(Ser233Cys) g.67937694C>G Copied from the Exome Variant Server STARD8_000047 1/10560 0/6728 1/3832 - - - - - - -
?/? c.728A>G r.(?) p.(Asp243Gly) g.67937724A>G Copied from the Exome Variant Server STARD8_000048 1/10562 1/6728 0/3834 - - - - - - -
?/? c.764G>A r.(?) p.(Arg255Gln) g.67937760G>A Copied from the Exome Variant Server STARD8_000049 1/10562 1/6728 0/3834 - - - - - - -
?/? c.767_784del r.(?) p.(Cys258_Gly263del) g.67937763_67937780del Copied from the Exome Variant Server STARD8_000050 11/10200 8/6482 3/3718 - - - - - - -
?/? c.783C>G r.(=) p.(=) g.67937779C>G Copied from the Exome Variant Server STARD8_000051 1/10561 0/6727 1/3834 - - - - - - -
?/? c.784C>T r.(?) p.(Arg262Trp) g.67937780C>T Copied from the Exome Variant Server STARD8_000052 1/10561 0/6727 1/3834 - - - - - - -
?/? c.794G>A r.(?) p.(Cys265Tyr) g.67937790G>A Copied from the Exome Variant Server STARD8_000053 1/10561 0/6726 1/3835 - - - - - - -
?/? c.803C>T r.(?) p.(Thr268Met) g.67937799C>T Copied from the Exome Variant Server STARD8_000054 2/10561 1/6728 1/3833 - - - - - - -
?/? c.822G>A r.(=) p.(=) g.67937818G>A Copied from the Exome Variant Server STARD8_000055 2/10561 0/6728 2/3833 - - - - - - -
?/? c.876G>A r.(=) p.(=) g.67937872G>A Copied from the Exome Variant Server STARD8_000056 2/10563 0/6728 2/3835 - - - - - - -
?/? c.919C>T r.(?) p.(His307Tyr) g.67937915C>T Copied from the Exome Variant Server STARD8_000057 1/10563 1/6728 0/3835 - - - - - - -
?/? c.924A>G r.(=) p.(=) g.67937920A>G Copied from the Exome Variant Server STARD8_000058 24/10563 22/6728 2/3835 - - - - - - -
?/? c.927C>T r.(=) p.(=) g.67937923C>T Copied from the Exome Variant Server STARD8_000059 25/10563 0/6728 25/3835 - - - - - - -
?/? c.928G>A r.(?) p.(Asp310Asn) g.67937924G>A Copied from the Exome Variant Server STARD8_000060 3/10563 3/6728 0/3835 - - - - - - -
?/? c.942C>T r.(=) p.(=) g.67937938C>T Copied from the Exome Variant Server STARD8_000061 2/10563 1/6728 1/3835 - - - - - - -
?/? c.943G>A r.(?) p.(Val315Met) g.67937939G>A Copied from the Exome Variant Server STARD8_000062 1/10563 1/6728 0/3835 - - - - - - -
?/? c.980G>A r.(?) p.(Arg327Gln) g.67937976G>A Copied from the Exome Variant Server STARD8_000063 849/10563 778/6728 71/3835 - - - - - - -
?/? c.982G>A r.(?) p.(Ala328Thr) g.67937978G>A Copied from the Exome Variant Server STARD8_000064 13/10563 0/6728 13/3835 - - - - - - -
?/? c.983C>T r.(?) p.(Ala328Val) g.67937979C>T Copied from the Exome Variant Server STARD8_000066 7/10563 0/6728 7/3835 - - - - - - -
?/? c.1026G>A r.(=) p.(=) g.67938022G>A Copied from the Exome Variant Server STARD8_000068 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1027G>A r.(?) p.(Ala343Thr) g.67938023G>A Copied from the Exome Variant Server STARD8_000070 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1044A>C r.(?) p.(Glu348Asp) g.67938040A>C Copied from the Exome Variant Server STARD8_000072 356/10563 1/6728 355/3835 - - - - - - -
?/? c.1064A>G r.(?) p.(Lys355Arg) g.67938060A>G Copied from the Exome Variant Server STARD8_000075 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1106A>G r.(?) p.(His369Arg) g.67938102A>G Copied from the Exome Variant Server STARD8_000077 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1160C>T r.(?) p.(Pro387Leu) g.67938156C>T Copied from the Exome Variant Server STARD8_000079 216/10558 0/6726 216/3832 - - - - - - -
?/? c.1161G>A r.(=) p.(=) g.67938157G>A Copied from the Exome Variant Server STARD8_000080 52/10553 1/6723 51/3830 - - - - - - -
?/? c.1209_1226del r.(?) p.(Pro409_Ala414del) g.67938205_67938222del Copied from the Exome Variant Server STARD8_000082 18/9444 14/6074 4/3370 - - - - - - -
?/? c.1232C>T r.(?) p.(Pro411Leu) g.67938228C>T Copied from the Exome Variant Server STARD8_000085 1/10478 1/6677 0/3801 - - - - - - -
?/? c.1233G>A r.(=) p.(=) g.67938229G>A Copied from the Exome Variant Server STARD8_000088 2/10500 0/6691 2/3809 - - - - - - -
?/? c.1238C>T r.(?) p.(Pro413Leu) g.67938234C>T Copied from the Exome Variant Server STARD8_000065 1/10519 1/6702 0/3817 - - - - - - -
?/? c.1246G>C r.(?) p.(Asp416His) g.67938242G>C Copied from the Exome Variant Server STARD8_000067 79/10551 0/6723 79/3828 - - - - - - -
?/? c.1272C>T r.(=) p.(=) g.67938268C>T Copied from the Exome Variant Server STARD8_000069 2/10562 0/6727 2/3835 - - - - - - -
?/? c.1273G>A r.(?) p.(Gly425Arg) g.67938269G>A Copied from the Exome Variant Server STARD8_000071 241/10562 222/6727 19/3835 - - - - - - -
?/? c.1293T>C r.(=) p.(=) g.67938289T>C Copied from the Exome Variant Server STARD8_000073 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1297C>T r.(=) p.(=) g.67938293C>T Copied from the Exome Variant Server STARD8_000074 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1306_1308del r.(?) p.(Glu437del) g.67938302_67938304del Copied from the Exome Variant Server STARD8_000076 56/10205 15/6484 41/3721 - - - - - - -
?/? c.1331C>T r.(?) p.(Thr444Ile) g.67938327C>T Copied from the Exome Variant Server STARD8_000078 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1347C>T r.(=) p.(=) g.67938343C>T Copied from the Exome Variant Server STARD8_000081 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1391C>T r.(?) p.(Ala464Val) g.67938387C>T Copied from the Exome Variant Server STARD8_000083 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1396C>T r.(?) p.(Pro466Ser) g.67938392C>T Copied from the Exome Variant Server STARD8_000086 490/10563 22/6728 468/3835 - - - - - - -
?/? c.1428T>G r.(=) p.(=) g.67938424T>G Copied from the Exome Variant Server STARD8_000089 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1475+11G>A r.(=) p.(=) g.67938482G>A Copied from the Exome Variant Server STARD8_000091 1/10559 1/6727 0/3832 - - - - - - -
?/? c.1476-23C>T r.(=) p.(=) g.67939044C>T Copied from the Exome Variant Server STARD8_000093 3/10562 3/6727 0/3835 - - - - - - -
?/? c.1476-8C>T r.(=) p.(=) g.67939059C>T Copied from the Exome Variant Server STARD8_000095 2/10562 2/6727 0/3835 - - - - - - -
?/? c.1505C>T r.(?) p.(Ser502Phe) g.67939096C>T Copied from the Exome Variant Server STARD8_000097 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1532C>T r.(?) p.(Ser511Leu) g.67939123C>T Copied from the Exome Variant Server STARD8_000099 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1575G>A r.(=) p.(=) g.67939166G>A Copied from the Exome Variant Server STARD8_000101 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1587A>G r.(=) p.(=) g.67939178A>G Copied from the Exome Variant Server STARD8_000103 355/10563 1/6728 354/3835 - - - - - - -
?/? c.1602C>T r.(=) p.(=) g.67939193C>T Copied from the Exome Variant Server STARD8_000105 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1649+51C>T r.(=) p.(=) g.67939291C>T Copied from the Exome Variant Server STARD8_000107 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1650-30del r.(=) p.(=) g.67940076del Copied from the Exome Variant Server STARD8_000109 10/10205 0/6484 10/3721 - - - - - - -
?/? c.1650-23T>A r.(=) p.(=) g.67940083T>A Copied from the Exome Variant Server STARD8_000111 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1650-17G>T r.(=) p.(=) g.67940089G>T Copied from the Exome Variant Server STARD8_000113 41/10563 0/6728 41/3835 - - - - - - -
?/? c.1658C>T r.(?) p.(Pro553Leu) g.67940114C>T Copied from the Exome Variant Server STARD8_000115 1/10563 0/6728 1/3835 - - - - - - -
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