All transcript variants in gene SCML2

Information The variants shown are described using the NM_006089.2 transcript reference sequence.

65 entries on 1 page. Showing entries 1 - 65.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-24-19T>C r.(=) p.(=) g.18352234A>G Copied from the Exome Variant Server SCML2_000065 1/10561 0/6728 1/3833
?/? c.-6G>C r.(=) p.(=) g.18352197C>G Copied from the Exome Variant Server SCML2_000064 1/10563 0/6728 1/3835
?/? c.-2C>T r.(=) p.(=) g.18352193G>A Copied from the Exome Variant Server SCML2_000063 1/10563 1/6728 0/3835
?/? c.22+66A>G r.(=) p.(=) g.18352104T>C Copied from the Exome Variant Server SCML2_000062 13/3596 0/2387 13/1209
?/? c.23-46A>G r.(=) p.(=) g.18348821T>C Copied from the Exome Variant Server SCML2_000061 1/10554 0/6723 1/3831
?/? c.23-45G>A r.(=) p.(=) g.18348820C>T Copied from the Exome Variant Server SCML2_000060 5/10554 0/6723 5/3831
?/? c.23-23A>G r.(=) p.(=) g.18348798T>C Copied from the Exome Variant Server SCML2_000059 1/10559 0/6726 1/3833
?/? c.40_42del r.(?) p.(Lys14del) g.18348756_18348758del Copied from the Exome Variant Server SCML2_000058 19/10199 17/6480 2/3719
?/? c.59C>T r.(?) p.(Thr20Ile) g.18348739G>A Copied from the Exome Variant Server SCML2_000057 6/10560 0/6727 6/3833
?/? c.82G>A r.(?) p.(Val28Ile) g.18348716C>T Copied from the Exome Variant Server SCML2_000056 1/10560 1/6727 0/3833
?/? c.91+32T>A r.(=) p.(=) g.18348675A>T Copied from the Exome Variant Server SCML2_000055 1/10558 1/6723 0/3835
?/? c.91+40del r.(=) p.(=) g.18348667del Copied from the Exome Variant Server SCML2_000054 25/10197 13/6476 12/3721
?/? c.158G>A r.(?) p.(Arg53His) g.18343031C>T Copied from the Exome Variant Server SCML2_000053 1/10563 1/6728 0/3835
?/? c.162+16G>A r.(=) p.(=) g.18343011C>T Copied from the Exome Variant Server SCML2_000052 2/10563 0/6728 2/3835
?/? c.162+34A>G r.(=) p.(=) g.18342993T>C Copied from the Exome Variant Server SCML2_000051 1/10563 1/6728 0/3835
?/? c.162+39A>G r.(=) p.(=) g.18342988T>C Copied from the Exome Variant Server SCML2_000050 1/10563 1/6728 0/3835
?/? c.162+47G>A r.(=) p.(=) g.18342980C>T Copied from the Exome Variant Server SCML2_000049 1/10563 0/6728 1/3835
?/? c.162+49T>C r.(=) p.(=) g.18342978A>G Copied from the Exome Variant Server SCML2_000048 1/10563 0/6728 1/3835
?/? c.163-40T>C r.(=) p.(=) g.18342253A>G Copied from the Exome Variant Server SCML2_000047 1/10128 1/6479 0/3649
?/? c.163-9T>C r.(=) p.(=) g.18342222A>G Copied from the Exome Variant Server SCML2_000046 2/10476 0/6676 2/3800
?/? c.197G>C r.(?) p.(Gly66Ala) g.18342179C>G Copied from the Exome Variant Server SCML2_000045 1/10563 0/6728 1/3835
?/? c.214C>T r.(?) p.(Arg72Cys) g.18342162G>A Copied from the Exome Variant Server SCML2_000044 1/10563 1/6728 0/3835
?/? c.240A>G r.(=) p.(=) g.18342136T>C Copied from the Exome Variant Server SCML2_000043 1/10563 1/6728 0/3835
?/? c.342C>T r.(=) p.(=) g.18342034G>A Copied from the Exome Variant Server SCML2_000042 2486/10563 1510/6728 976/3835
?/? c.398-51T>C r.(=) p.(=) g.18338591A>G Copied from the Exome Variant Server SCML2_000041 4/10553 4/6720 0/3833
?/? c.412A>G r.(?) p.(Thr138Ala) g.18338526T>C Copied from the Exome Variant Server SCML2_000040 1/10563 0/6728 1/3835
?/? c.467C>G r.(?) p.(Ser156Cys) g.18338471G>C Copied from the Exome Variant Server SCML2_000039 1/10563 1/6728 0/3835
?/? c.487-42A>G r.(=) p.(=) g.18323377T>C Copied from the Exome Variant Server SCML2_000038 19/10502 0/6707 19/3795
?/? c.487-14del r.(=) p.(=) g.18323349del Copied from the Exome Variant Server SCML2_000037 799/10159 542/6464 257/3695
?/? c.487-14dup r.(=) p.(=) g.18323349dup Copied from the Exome Variant Server SCML2_000036 194/10159 140/6464 54/3695
?/? c.541A>G r.(?) p.(Ile181Val) g.18323281T>C Copied from the Exome Variant Server SCML2_000035 2/10563 0/6728 2/3835
?/? c.587A>G r.(?) p.(Asp196Gly) g.18323235T>C Copied from the Exome Variant Server SCML2_000034 1/10563 1/6728 0/3835
?/? c.615A>T r.(=) p.(=) g.18323207T>A Copied from the Exome Variant Server SCML2_000033 1/10563 0/6728 1/3835
?/? c.691C>T r.(?) p.(Arg231Cys) g.18323131G>A Copied from the Exome Variant Server SCML2_000032 2/10563 1/6728 1/3835
?/? c.708A>G r.(=) p.(=) g.18323114T>C Copied from the Exome Variant Server SCML2_000031 16/10563 0/6728 16/3835
?/? c.806A>C r.(?) p.(Gln269Pro) g.18283847T>G Copied from the Exome Variant Server SCML2_000030 1/10563 0/6728 1/3835
?/? c.911T>C r.(?) p.(Ile304Thr) g.18283742A>G Copied from the Exome Variant Server SCML2_000029 2/10563 2/6728 0/3835
?/? c.933A>C r.(=) p.(=) g.18283720T>G Copied from the Exome Variant Server SCML2_000028 2/10563 0/6728 2/3835
?/? c.949-51T>C r.(=) p.(=) g.18278462A>G Copied from the Exome Variant Server SCML2_000027 1/10487 1/6690 0/3797
?/? c.949-14T>A r.(=) p.(=) g.18278425A>T Copied from the Exome Variant Server SCML2_000026 1/10563 0/6728 1/3835
?/? c.1024T>C r.(?) p.(Tyr342His) g.18278336A>G Copied from the Exome Variant Server SCML2_000025 1/10563 1/6728 0/3835
?/? c.1036G>A r.(?) p.(Ala346Thr) g.18278324C>T Copied from the Exome Variant Server SCML2_000024 1/10563 0/6728 1/3835
?/? c.1051A>G r.(?) p.(Lys351Glu) g.18278309T>C Copied from the Exome Variant Server SCML2_000023 1/10563 1/6728 0/3835
?/? c.1070-36C>T r.(=) p.(=) g.18276403G>A Copied from the Exome Variant Server SCML2_000022 1/10563 1/6728 0/3835
?/? c.1070-35T>C r.(=) p.(=) g.18276402A>G Copied from the Exome Variant Server SCML2_000021 2/10563 2/6728 0/3835
?/? c.1070-26T>C r.(=) p.(=) g.18276393A>G Copied from the Exome Variant Server SCML2_000020 31/10563 0/6728 31/3835
?/? c.1070-16C>T r.(=) p.(=) g.18276383G>A Copied from the Exome Variant Server SCML2_000019 35/10563 0/6728 35/3835
?/? c.1237C>G r.(?) p.(Leu413Val) g.18276200G>C Copied from the Exome Variant Server SCML2_000018 1/10563 1/6728 0/3835
?/? c.1273+46C>G r.(=) p.(=) g.18276118G>C Copied from the Exome Variant Server SCML2_000017 1/10563 1/6728 0/3835
?/? c.1274-11del r.(=) p.(=) g.18275161del Copied from the Exome Variant Server SCML2_000016 12/10205 11/6484 1/3721
?/? c.1302C>A r.(=) p.(=) g.18275122G>T Copied from the Exome Variant Server SCML2_000015 1/10563 1/6728 0/3835
?/? c.1370A>G r.(?) p.(Gln457Arg) g.18275054T>C Copied from the Exome Variant Server SCML2_000014 2/10563 2/6728 0/3835
?/? c.1425C>T r.(=) p.(=) g.18274999G>A Copied from the Exome Variant Server SCML2_000013 1/10563 0/6728 1/3835
?/? c.1456+36A>G r.(=) p.(=) g.18274932T>C Copied from the Exome Variant Server SCML2_000012 1/10562 0/6727 1/3835
?/? c.1457-35G>A r.(=) p.(=) g.18266037C>T Copied from the Exome Variant Server SCML2_000011 1/10563 0/6728 1/3835
?/? c.1492C>A r.(=) p.(=) g.18265967G>T Copied from the Exome Variant Server SCML2_000010 1/10563 0/6728 1/3835
?/? c.1515A>G r.(=) p.(=) g.18265944T>C Copied from the Exome Variant Server SCML2_000009 1/10563 1/6728 0/3835
?/? c.1570+42T>C r.(=) p.(=) g.18265847A>G Copied from the Exome Variant Server SCML2_000008 494/10563 442/6728 52/3835
?/? c.1587T>C r.(=) p.(=) g.18264932A>G Copied from the Exome Variant Server SCML2_000007 1/10561 0/6728 1/3833
?/? c.1603C>T r.(?) p.(Pro535Ser) g.18264916G>A Copied from the Exome Variant Server SCML2_000006 1/10563 0/6728 1/3835
?/? c.1822+30G>T r.(=) p.(=) g.18264667C>A Copied from the Exome Variant Server SCML2_000005 1/10563 1/6728 0/3835
?/? c.1822+42C>G r.(=) p.(=) g.18264655G>C Copied from the Exome Variant Server SCML2_000004 174/10563 3/6728 171/3835
?/? c.1823-8del r.(=) p.(=) g.18260718del Copied from the Exome Variant Server SCML2_000003 2/10205 1/6484 1/3721
?/? c.1957G>A r.(?) p.(Asp653Asn) g.18260576C>T Copied from the Exome Variant Server SCML2_000002 1/10563 0/6728 1/3835
?/? c.2001A>T r.(=) p.(=) g.18259473T>A Copied from the Exome Variant Server SCML2_000001 1/10563 1/6728 0/3835
Legend