All transcript variants in gene SPANXD

Information The variants shown are described using the NM_032417.2 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-20T>C r.(=) p.(=) g.140786582A>G Copied from the Exome Variant Server SPANXD_000005 5/10522 0/6705 5/3817
?/? c.-10A>G r.(=) p.(=) g.140786572T>C Copied from the Exome Variant Server SPANXD_000004 33/10527 0/6708 33/3819
?/? c.7A>G r.(?) p.(Lys3Glu) g.140786556T>C Copied from the Exome Variant Server SPANXD_000003 25/10528 0/6707 25/3821
?/? c.10C>T r.(?) p.(Gln4*) g.140786553G>A Copied from the Exome Variant Server SPANXD_000002 1/10526 1/6706 0/3820
?/? c.22G>T r.(?) p.(Gly8Cys) g.140786541C>A Copied from the Exome Variant Server SPANXD_000001 4/10475 0/6671 4/3804
?/? c.39C>T r.(=) p.(=) g.140786524G>A Copied from the Exome Variant Server SPANXD_000011 5/9317 5/5935 0/3382
?/? c.40G>A r.(?) p.(Val14Ile) g.140786523C>T Copied from the Exome Variant Server SPANXD_000010 1/9169 0/5839 1/3330
?/? c.51T>A r.(?) p.(Asp17Glu) g.140786512A>T Copied from the Exome Variant Server SPANXD_000009 99/7870 10/5101 89/2769
?/? c.72+1del r.spl? p.? g.140786490del Copied from the Exome Variant Server SPANXD_000008 23/4697 22/2938 1/1759
?/? c.73-29C>G r.(=) p.(=) g.140785872G>C Copied from the Exome Variant Server SPANXD_000007 2/10528 0/6697 2/3831
?/? c.85T>C r.(?) p.(Ser29Pro) g.140785831A>G Copied from the Exome Variant Server SPANXD_000006 23/10503 1/6677 22/3826
?/? c.87G>A r.(=) p.(=) g.140785829C>T Copied from the Exome Variant Server SPANXD_000030 23/10503 1/6677 22/3826
?/? c.89G>C r.(?) p.(Ser30Thr) g.140785827C>G Copied from the Exome Variant Server SPANXD_000029 25/10502 2/6676 23/3826
?/? c.91G>A r.(?) p.(Gly31Arg) g.140785825C>T Copied from the Exome Variant Server SPANXD_000028 1/10504 0/6676 1/3828
?/? c.94T>G r.(?) p.(Tyr32Asp) g.140785822A>C Copied from the Exome Variant Server SPANXD_000027 36/10507 2/6679 34/3828
?/? c.95A>G r.(?) p.(Tyr32Cys) g.140785821T>C Copied from the Exome Variant Server SPANXD_000026 1/10508 0/6680 1/3828
?/? c.104C>T r.(?) p.(Pro35Leu) g.140785812G>A Copied from the Exome Variant Server SPANXD_000025 1/10513 0/6683 1/3830
?/? c.105G>A r.(=) p.(=) g.140785811C>T Copied from the Exome Variant Server SPANXD_000024 1/10513 1/6683 0/3830
?/? c.116C>G r.(?) p.(Pro39Arg) g.140785800G>C Copied from the Exome Variant Server SPANXD_000023 1/10515 0/6685 1/3830
?/? c.117G>A r.(=) p.(=) g.140785799C>T Copied from the Exome Variant Server SPANXD_000022 283/10515 67/6685 216/3830
?/? c.119A>G r.(?) p.(Lys40Arg) g.140785797T>C Copied from the Exome Variant Server SPANXD_000021 2/10515 2/6685 0/3830
?/? c.122A>G r.(?) p.(Lys41Arg) g.140785794T>C Copied from the Exome Variant Server SPANXD_000020 1/10515 1/6685 0/3830
?/? c.123A>G r.(=) p.(=) g.140785793T>C Copied from the Exome Variant Server SPANXD_000019 154/10515 143/6685 11/3830
?/? c.123del r.(?) p.(Lys41Asnfs*2) g.140785793del Copied from the Exome Variant Server SPANXD_000018 1/10156 1/6439 0/3717
?/? c.126A>G r.(=) p.(=) g.140785790T>C Copied from the Exome Variant Server SPANXD_000017 231/10516 195/6686 36/3830
?/? c.131C>T r.(?) p.(Thr44Ile) g.140785785G>A Copied from the Exome Variant Server SPANXD_000016 1/10532 0/6701 1/3831
?/? c.144G>A r.(=) p.(=) g.140785772C>T Copied from the Exome Variant Server SPANXD_000015 2/10532 2/6701 0/3831
?/? c.160C>A r.(?) p.(Arg54Ser) g.140785756G>T Copied from the Exome Variant Server SPANXD_000014 1/10550 1/6716 0/3834
?/? c.161G>A r.(?) p.(Arg54His) g.140785755C>T Copied from the Exome Variant Server SPANXD_000013 1/10550 1/6716 0/3834
?/? c.190C>T r.(?) p.(Pro64Ser) g.140785726G>A Copied from the Exome Variant Server SPANXD_000012 4/10550 4/6716 0/3834
?/? c.201G>A r.(=) p.(=) g.140785715C>T Copied from the Exome Variant Server SPANXD_000039 1/10549 1/6715 0/3834
?/? c.213C>T r.(=) p.(=) g.140785703G>A Copied from the Exome Variant Server SPANXD_000038 1/10551 1/6717 0/3834
?/? c.217C>G r.(?) p.(Arg73Gly) g.140785699G>C Copied from the Exome Variant Server SPANXD_000037 1/10550 0/6716 1/3834
?/? c.222G>T r.(?) p.(Lys74Asn) g.140785694C>A Copied from the Exome Variant Server SPANXD_000036 1/10531 1/6700 0/3831
?/? c.238C>G r.(?) p.(Leu80Val) g.140785678G>C Copied from the Exome Variant Server SPANXD_000035 44/10533 21/6701 23/3832
?/? c.239T>A r.(?) p.(Leu80His) g.140785677A>T Copied from the Exome Variant Server SPANXD_000034 45/10533 22/6701 23/3832
?/? c.272T>C r.(?) p.(Met91Thr) g.140785644A>G Copied from the Exome Variant Server SPANXD_000033 16/10535 0/6702 16/3833
?/? c.*3A>C r.(=) p.(=) g.140785619T>G Copied from the Exome Variant Server SPANXD_000032 1/10532 1/6699 0/3833
?/? c.*11C>T r.(=) p.(=) g.140785611G>A Copied from the Exome Variant Server SPANXD_000031 2/10530 2/6697 0/3833
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