Full data view for gene HS6ST2

Information The variants shown are described using the NM_001077188.1 transcript reference sequence.

49 entries on 1 page. Showing entries 1 - 49.
Legend  

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.23del r.(?) p.(Val8Alafs*27) g.132092608del Copied from the Exome Variant Server HS6ST2_000049 23/8669 17/5741 6/2928 - - - - - - -
?/? c.28G>T r.(?) p.(Glu10*) g.132092603C>A Copied from the Exome Variant Server HS6ST2_000048 1/9137 1/6049 0/3088 - - - - - - -
?/? c.146C>T r.(?) p.(Ser49Leu) g.132092485G>A Copied from the Exome Variant Server HS6ST2_000047 60/9003 59/6071 1/2932 - - - - - - -
?/? c.152G>T r.(?) p.(Arg51Leu) g.132092479C>A Copied from the Exome Variant Server HS6ST2_000046 13/8994 10/6070 3/2924 - - - - - - -
?/? c.253_254del r.(?) p.(Pro85Alafs*64) g.132092377_132092378del Copied from the Exome Variant Server HS6ST2_000045 20/8634 8/5786 12/2848 - - - - - - -
?/? c.285C>G r.(=) p.(=) g.132092346G>C Copied from the Exome Variant Server HS6ST2_000044 13/9098 0/6125 13/2973 - - - - - - -
?/? c.321G>T r.(=) p.(=) g.132092310C>A Copied from the Exome Variant Server HS6ST2_000043 49/9451 1/6307 48/3144 - - - - - - -
?/? c.347C>T r.(?) p.(Thr116Ile) g.132092284G>A Copied from the Exome Variant Server HS6ST2_000042 2/9546 2/6349 0/3197 - - - - - - -
?/? c.429-35G>A r.(=) p.(=) g.132091389C>T Copied from the Exome Variant Server HS6ST2_000041 17/9958 15/6507 2/3451 - - - - - - -
?/? c.540C>T r.(=) p.(=) g.132091243G>A Copied from the Exome Variant Server HS6ST2_000040 2/10064 2/6531 0/3533 - - - - - - -
?/? c.553G>C r.(?) p.(Ala185Pro) g.132091230C>G Copied from the Exome Variant Server HS6ST2_000039 1/10044 0/6517 1/3527 - - - - - - -
?/? c.626A>G r.(?) p.(Asn209Ser) g.132091157T>C Copied from the Exome Variant Server HS6ST2_000038 1/10257 0/6590 1/3667 - - - - - - -
?/? c.630C>T r.(=) p.(=) g.132091153G>A Copied from the Exome Variant Server HS6ST2_000037 1/10276 1/6601 0/3675 - - - - - - -
?/? c.687C>T r.(=) p.(=) g.132091096G>A Copied from the Exome Variant Server HS6ST2_000036 6/10498 1/6699 5/3799 - - - - - - -
?/? c.805C>A r.(=) p.(=) g.132090978G>T Copied from the Exome Variant Server HS6ST2_000035 1/10431 1/6668 0/3763 - - - - - - -
?/? c.857G>A r.(?) p.(Ser286Asn) g.132090926C>T Copied from the Exome Variant Server HS6ST2_000034 1/10471 0/6671 1/3800 - - - - - - -
?/? c.948-35C>G r.(=) p.(=) g.131842557G>C Copied from the Exome Variant Server HS6ST2_000033 12/9409 11/6344 1/3065 - - - - - - -
?/? c.948-31C>A r.(=) p.(=) g.131842553G>T Copied from the Exome Variant Server HS6ST2_000032 1/9417 0/6345 1/3072 - - - - - - -
?/? c.948-26G>A r.(=) p.(=) g.131842548C>T Copied from the Exome Variant Server HS6ST2_000031 3/9432 2/6353 1/3079 - - - - - - -
?/? c.975A>G r.(=) p.(=) g.131842495T>C Copied from the Exome Variant Server HS6ST2_000030 84/9455 0/6362 84/3093 - - - - - - -
?/? c.980+5G>A r.spl? p.? g.131842485C>T Copied from the Exome Variant Server HS6ST2_000029 1/9451 1/6362 0/3089 - - - - - - -
?/? c.980+14T>C r.(=) p.(=) g.131842476A>G Copied from the Exome Variant Server HS6ST2_000028 2/9429 0/6356 2/3073 - - - - - - -
?/? c.980+38G>A r.(=) p.(=) g.131842452C>T Copied from the Exome Variant Server HS6ST2_000027 162/9376 153/6342 9/3034 - - - - - - -
?/? c.981-35_981-33del r.(=) p.(=) g.131803260_131803262del Copied from the Exome Variant Server HS6ST2_000026 1/9357 0/6193 1/3164 - - - - - - -
?/? c.1012G>A r.(?) p.(Ala338Thr) g.131803196C>T Copied from the Exome Variant Server HS6ST2_000025 20/9874 20/6488 0/3386 - - - - - - -
?/? c.1019C>T r.(?) p.(Ala340Val) g.131803189G>A Copied from the Exome Variant Server HS6ST2_000024 1/9877 0/6487 1/3390 - - - - - - -
?/? c.1029G>A r.(=) p.(=) g.131803179C>T Copied from the Exome Variant Server HS6ST2_000023 2/9853 2/6481 0/3372 - - - - - - -
?/? c.1046G>A r.(?) p.(Arg349Gln) g.131803162C>T Copied from the Exome Variant Server HS6ST2_000022 3/9855 3/6477 0/3378 - - - - - - -
?/? c.1109G>A r.(?) p.(Arg370Gln) g.131763080C>T Copied from the Exome Variant Server HS6ST2_000021 1/10089 1/6567 0/3522 - - - - - - -
?/? c.1150T>C r.(?) p.(Trp384Arg) g.131763039A>G Copied from the Exome Variant Server HS6ST2_000020 1/10222 0/6596 1/3626 - - - - - - -
?/? c.1156G>A r.(?) p.(Ala386Thr) g.131763033C>T Copied from the Exome Variant Server HS6ST2_000019 1/10236 0/6603 1/3633 - - - - - - -
?/? c.1157C>A r.(?) p.(Ala386Glu) g.131763032G>T Copied from the Exome Variant Server HS6ST2_000018 1/10247 1/6610 0/3637 - - - - - - -
?/? c.1215C>T r.(=) p.(=) g.131762974G>A Copied from the Exome Variant Server HS6ST2_000017 1/10279 1/6614 0/3665 - - - - - - -
?/? c.1221C>T r.(=) p.(=) g.131762968G>A Copied from the Exome Variant Server HS6ST2_000016 23/10266 0/6607 23/3659 - - - - - - -
?/? c.1407G>A r.(=) p.(=) g.131762782C>T Copied from the Exome Variant Server HS6ST2_000015 4/9830 2/6494 2/3336 - - - - - - -
?/? c.1485A>G r.(=) p.(=) g.131762704T>C Copied from the Exome Variant Server HS6ST2_000014 1/9593 0/6417 1/3176 - - - - - - -
?/? c.1529A>G r.(?) p.(Asn510Ser) g.131762660T>C Copied from the Exome Variant Server HS6ST2_000013 1/9554 1/6402 0/3152 - - - - - - -
?/? c.1531G>A r.(?) p.(Glu511Lys) g.131762658C>T Copied from the Exome Variant Server HS6ST2_000012 121/9550 111/6402 10/3148 - - - - - - -
?/? c.1547G>A r.(?) p.(Arg516His) g.131762642C>T Copied from the Exome Variant Server HS6ST2_000011 1/9586 1/6414 0/3172 - - - - - - -
?/? c.1574T>G r.(?) p.(Met525Arg) g.131762615A>C Copied from the Exome Variant Server HS6ST2_000010 1/9653 0/6421 1/3232 - - - - - - -
?/? c.1640A>C r.(?) p.(His547Pro) g.131762549T>G Copied from the Exome Variant Server HS6ST2_000009 2/9839 0/6459 2/3380 - - - - - - -
?/? c.1648G>T r.(?) p.(Ala550Ser) g.131762541C>A Copied from the Exome Variant Server HS6ST2_000008 18/9844 14/6470 4/3374 - - - - - - -
?/? c.1691G>T r.(?) p.(Arg564Met) g.131762498C>A Copied from the Exome Variant Server HS6ST2_000007 1/9807 1/6453 0/3354 - - - - - - -
?/? c.1742C>A r.(?) p.(Pro581Gln) g.131762447G>T Copied from the Exome Variant Server HS6ST2_000006 1/9736 0/6453 1/3283 - - - - - - -
?/? c.1756_1757insATCAGA r.(?) p.(Asn584_Gln585dup) g.131762432_131762433insTCTGAT Copied from the Exome Variant Server HS6ST2_000005 3/9308 3/6179 0/3129 - - - - - - -
?/? c.1843C>T r.(?) p.(Arg615Trp) g.131762346G>A Copied from the Exome Variant Server HS6ST2_000004 1/9212 0/6055 1/3157 - - - - - - -
?/? c.1860G>A r.(=) p.(=) g.131762329C>T Copied from the Exome Variant Server HS6ST2_000003 2/9111 0/5960 2/3151 - - - - - - -
?/? c.1905C>T r.(=) p.(=) g.131762284G>A Copied from the Exome Variant Server HS6ST2_000002 1/8659 1/5620 0/3039 - - - - - - -
?/? c.*17_*21del r.(=) p.(=) g.131762230_131762234del Copied from the Exome Variant Server HS6ST2_000001 8/7394 5/4813 3/2581 - - - - - - -
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