Full data view for gene TSPAN31

Information The variants shown are described using the NM_005981.3 transcript reference sequence.

42 entries on 1 page. Showing entries 1 - 42.
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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.-45_-44insC r.(=) p.(=) g.58138893_58138894insC Copied from the Exome Variant Server TSPAN31_000001 22/12484 12/8234 10/4250 - - - - - - -
?/? c.12_13insGG r.(?) p.(Phe6Alafs*19) g.58138949_58138950insGG Copied from the Exome Variant Server TSPAN31_000002 132/12506 78/8248 54/4258 - - - - - - -
?/? c.26C>T r.(?) p.(Ser9Phe) g.58138963C>T Copied from the Exome Variant Server TSPAN31_000003 2/13006 2/8600 0/4406 - - - - - - -
?/? c.34G>A r.(?) p.(Ala12Thr) g.58138971G>A Copied from the Exome Variant Server TSPAN31_000004 16/13006 16/8600 0/4406 - - - - - - -
?/? c.37C>T r.(?) p.(Leu13Phe) g.58138974C>T Copied from the Exome Variant Server TSPAN31_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.63+9T>C r.(=) p.(=) g.58139009T>C Copied from the Exome Variant Server TSPAN31_000006 2/13004 0/8598 2/4406 - - - - - - -
?/? c.64-46G>A r.(=) p.(=) g.58139482G>A Copied from the Exome Variant Server TSPAN31_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.64-15G>A r.(=) p.(=) g.58139513G>A Copied from the Exome Variant Server TSPAN31_000008 2/13006 2/8600 0/4406 - - - - - - -
?/? c.94dup r.(?) p.(Ala32Glyfs*69) g.58139558dup Copied from the Exome Variant Server TSPAN31_000009 284/12518 179/8254 105/4264 - - - - - - -
?/? c.94_99del r.(?) p.(Ala32_Trp33del) g.58139558_58139563del Copied from the Exome Variant Server TSPAN31_000010 24/12518 24/8254 0/4264 - - - - - - -
?/? c.97T>C r.(?) p.(Trp33Arg) g.58139561T>C Copied from the Exome Variant Server TSPAN31_000011 1/13006 1/8600 0/4406 - - - - - - -
?/? c.143G>A r.(?) p.(Gly48Glu) g.58139607G>A Copied from the Exome Variant Server TSPAN31_000012 1/13006 0/8600 1/4406 - - - - - - -
?/? c.213C>T r.(=) p.(=) g.58139677C>T Copied from the Exome Variant Server TSPAN31_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.226T>C r.(?) p.(Phe76Leu) g.58139690T>C Copied from the Exome Variant Server TSPAN31_000014 1/13006 1/8600 0/4406 - - - - - - -
?/? c.231+34G>A r.(=) p.(=) g.58139729G>A Copied from the Exome Variant Server TSPAN31_000015 192/13006 179/8600 13/4406 - - - - - - -
?/? c.231+41G>A r.(=) p.(=) g.58139736G>A Copied from the Exome Variant Server TSPAN31_000016 1/13006 0/8600 1/4406 - - - - - - -
?/? c.231+48G>A r.(=) p.(=) g.58139743G>A Copied from the Exome Variant Server TSPAN31_000017 642/13006 575/8600 67/4406 - - - - - - -
?/? c.232-60A>G r.(=) p.(=) g.58139899A>G Copied from the Exome Variant Server TSPAN31_000018 1/4566 1/3182 0/1384 - - - - - - -
?/? c.232-43C>A r.(=) p.(=) g.58139916C>A Copied from the Exome Variant Server TSPAN31_000019 2/13006 2/8600 0/4406 - - - - - - -
?/? c.232-42_232-41del r.(=) p.(=) g.58139917_58139918del Copied from the Exome Variant Server TSPAN31_000020 1/12518 0/8254 1/4264 - - - - - - -
?/? c.232-41T>C r.(=) p.(=) g.58139918T>C Copied from the Exome Variant Server TSPAN31_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? c.232-29G>A r.(=) p.(=) g.58139930G>A Copied from the Exome Variant Server TSPAN31_000022 3/13006 3/8600 0/4406 - - - - - - -
?/? c.261C>T r.(=) p.(=) g.58139988C>T Copied from the Exome Variant Server TSPAN31_000023 1/13004 1/8600 0/4404 - - - - - - -
?/? c.312+22_312+25del r.(=) p.(=) g.58140061_58140064del Copied from the Exome Variant Server TSPAN31_000024 1/12516 1/8254 0/4262 - - - - - - -
?/? c.312+28C>T r.(=) p.(=) g.58140067C>T Copied from the Exome Variant Server TSPAN31_000025 2/13006 0/8600 2/4406 - - - - - - -
?/? c.312+40A>T r.(=) p.(=) g.58140079A>T Copied from the Exome Variant Server TSPAN31_000027 1/13006 1/8600 0/4406 - - - - - - -
?/? c.313-36A>G r.(=) p.(=) g.58140336A>G Copied from the Exome Variant Server TSPAN31_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.326A>G r.(?) p.(Asn109Ser) g.58140385A>G Copied from the Exome Variant Server TSPAN31_000031 1/13006 0/8600 1/4406 - - - - - - -
?/? c.386G>A r.(?) p.(Cys129Tyr) g.58140445G>A Copied from the Exome Variant Server TSPAN31_000033 1/13006 0/8600 1/4406 - - - - - - -
?/? c.418_420del r.(?) p.(Gln141del) g.58140477_58140479del Copied from the Exome Variant Server TSPAN31_000035 10/12518 9/8254 1/4264 - - - - - - -
?/? c.427_428del r.(?) p.(Tyr143*) g.58140486_58140487del Copied from the Exome Variant Server TSPAN31_000037 1/12518 1/8254 0/4264 - - - - - - -
?/? c.444+7G>A r.(=) p.(=) g.58140510G>A Copied from the Exome Variant Server TSPAN31_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.444+24G>A r.(=) p.(=) g.58140527G>A Copied from the Exome Variant Server TSPAN31_000041 6/13006 0/8600 6/4406 - - - - - - -
?/? c.445-13G>A r.(=) p.(=) g.58140788G>A Copied from the Exome Variant Server TSPAN31_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.514C>T r.(=) p.(=) g.58140870C>T Copied from the Exome Variant Server TSPAN31_000026 1/13006 0/8600 1/4406 - - - - - - -
?/? c.533T>C r.(?) p.(Val178Ala) g.58140889T>C Copied from the Exome Variant Server TSPAN31_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.558+36_558+37insG r.(=) p.(=) g.58140950_58140951insG Copied from the Exome Variant Server TSPAN31_000030 1/12518 0/8254 1/4264 - - - - - - -
?/? c.559-33T>C r.(=) p.(=) g.58140966T>C Copied from the Exome Variant Server TSPAN31_000032 9/13006 7/8600 2/4406 - - - - - - -
?/? c.580_581del r.(?) p.(Met194Glufs*9) g.58141020_58141021del Copied from the Exome Variant Server TSPAN31_000034 1/12518 0/8254 1/4264 - - - - - - -
?/? c.*30_*33del r.(=) p.(=) g.58141103_58141106del Copied from the Exome Variant Server TSPAN31_000036 1/12518 1/8254 0/4264 - - - - - - -
?/? c.*32_*33del r.(=) p.(=) g.58141105_58141106del Copied from the Exome Variant Server TSPAN31_000038 2/12518 1/8254 1/4264 - - - - - - -
?/? c.*36_*40del r.(=) p.(=) g.58141109_58141113del Copied from the Exome Variant Server TSPAN31_000040 2/12518 1/8254 1/4264 - - - - - - -
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