All transcript variants in gene SGPL1

Information The variants shown are described using the NM_003901.3 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Allele Count     

Allele Number     

Combined Depth     

Heterozygote     

Homozygous     

Owner     
./. - c.-43-103A>G r.(=) p.(=) g.72576464A>G - SGPL1_000001 rs192975260 0.001946 1 514 1558 - - Admin
./. - c.6T>C r.(=) p.(=) g.72576615T>C - SGPL1_000002 rs550928228 0.001938 1 516 6421 - - Admin
./. - c.27+44_27+45insC r.(=) p.(=) g.72576680_72576681insC - SGPL1_000003 rs372421253 - - - - - - Admin
./. - c.27+54T>C r.(=) p.(=) g.72576690T>C - SGPL1_000004 rs113021912 0.007752 4 516 6585 - - Admin
./. - c.27+78G>A r.(=) p.(=) g.72576714G>A - SGPL1_000005 rs141388805 0.001938 1 516 5859 - - Admin
./. - c.61G>T r.(?) p.(Val21Leu) g.72604263G>T - SGPL1_000006 rs12770335 0.118 61 516 5014 - - Admin
./. - c.193+92G>A r.(=) p.(=) g.72604487G>A - SGPL1_000007 rs114988069 0.00969 5 516 3198 - - Admin
./. - c.194-133A>T r.(=) p.(=) g.72610767A>T - SGPL1_000008 rs11594636 0.074 38 514 2645 - - Admin
./. - c.262-76C>G r.(=) p.(=) g.72614389C>G - SGPL1_000009 rs536883022 0.001938 1 516 4265 - - Admin
./. - c.262-44T>C r.(=) p.(=) g.72614421T>C - SGPL1_000010 rs2171157 0.349 180 516 6039 - - Admin
./. - c.321A>G r.(=) p.(=) g.72614524A>G - SGPL1_000011 rs11597050 0.07 36 516 10160 - - Admin
./. - c.409+82A>T r.(=) p.(=) g.72614694A>T - SGPL1_000012 rs151019151 0.005814 3 516 5402 - - Admin
./. - c.410-161A>T r.(=) p.(=) g.72617210A>T - SGPL1_000013 rs113290175 0.054 27 504 1858 - - Admin
./. - c.410-115A>T r.(=) p.(=) g.72617256A>T - SGPL1_000014 rs2297842 0.344 177 514 3372 - - Admin
./. - c.410-100C>T r.(=) p.(=) g.72617271C>T - SGPL1_000015 rs1441924460 0.014 7 516 4194 7 0 Admin
./. - c.410-95G>T r.(=) p.(=) g.72617276G>T - SGPL1_000016 rs1308551751 0.00969 5 516 4542 5 0 Admin
./. - c.410-93A>T r.(=) p.(=) g.72617278A>T - SGPL1_000017 rs1374841125 0.003876 2 516 4696 2 0 Admin
./. - c.410-91C>T r.(=) p.(=) g.72617280C>T - SGPL1_000018 rs1489981988 0.001938 1 516 4879 1 0 Admin
./. - c.410-25del r.(=) p.(=) g.72617346del - SGPL1_000019 rs140087696 0.001938 1 516 4879 - - Admin
./. - c.487-95G>A r.(=) p.(=) g.72619033G>A - SGPL1_000020 rs112777083 0.066 34 516 2274 - - Admin
./. - c.564C>T r.(=) p.(=) g.72619205C>T - SGPL1_000021 rs827255 0.986 509 516 9504 - - Admin
./. - c.615+879_615+880del r.(=) p.(=) g.72620135_72620136del - SGPL1_000022 rs912230085 0.001938 1 516 4879 1 0 Admin
./. - c.615+880dup r.(=) p.(=) g.72620136dup - SGPL1_000023 rs912230085 0.001938 1 516 4879 1 0 Admin
./. - c.616-48G>A r.(=) p.(=) g.72628054G>A - SGPL1_000024 rs41305999 0.072 37 516 2737 - - Admin
./. - c.705-157T>C r.(=) p.(=) g.72629392T>C - SGPL1_000025 rs75091496 0.012 6 516 2187 - - Admin
./. - c.705-93A>G r.(=) p.(=) g.72629456A>G - SGPL1_000026 rs146181199 0.005814 3 516 5973 - - Admin
./. - c.705-47A>G r.(=) p.(=) g.72629502A>G - SGPL1_000027 rs201814090 0.003876 2 516 8603 - - Admin
./. - c.723C>T r.(=) p.(=) g.72629567C>T - SGPL1_000028 rs827249 0.062 32 516 8835 - - Admin
./. - c.810+29G>A r.(=) p.(=) g.72629683G>A - SGPL1_000029 rs75121822 0.072 37 516 3367 - - Admin
./. - c.910-127T>A r.(=) p.(=) g.72631467T>A - SGPL1_000030 rs187874302 0.004098 2 488 1079 - - Admin
./. - c.942C>T r.(=) p.(=) g.72631626C>T - SGPL1_000031 rs865832 0.205 106 516 6927 - - Admin
./. - c.954G>A r.(=) p.(=) g.72631638G>A - SGPL1_000032 - 0.001938 1 516 7179 1 0 Admin
./. - c.1059+17A>T r.(=) p.(=) g.72631760A>T - SGPL1_000033 rs374784953 0.001938 1 516 5846 - - Admin
./. - c.1059+77C>T r.(=) p.(=) g.72631820C>T - SGPL1_000034 rs113285001 0.067 34 510 2489 - - Admin
./. - c.1059+127_1059+128del r.(=) p.(=) g.72631870_72631871del - SGPL1_000035 rs557564296 0.067 34 510 2489 - - Admin
./. - c.1060-13A>T r.(=) p.(=) g.72633095A>T - SGPL1_000036 rs540445141 0.001938 1 516 8750 - - Admin
./. - c.1204G>A r.(?) p.(Ala402Thr) g.72633252G>A - SGPL1_000037 rs761684028 0.001938 1 516 9471 - - Admin
./. - c.1298+84A>G r.(=) p.(=) g.72633430A>G - SGPL1_000038 rs181021357 0.001938 1 516 3981 - - Admin
./. - c.1298+112C>T r.(=) p.(=) g.72633458C>T - SGPL1_000039 rs10762410 0.334 171 512 2834 - - Admin
./. - c.1299-15_1299-14del r.(=) p.(=) g.72635144_72635145del - SGPL1_000040 rs398054497 0.001938 1 516 7179 1 0 Admin
./. - c.1566+32T>G r.(=) p.(=) g.72636450T>G - SGPL1_000041 rs923177 0.694 358 516 6296 - - Admin
./. - c.1693C>T r.(?) p.(Pro565Ser) g.72637078C>T - SGPL1_000042 rs77130902 0.007752 4 516 9294 - - Admin
./. - c.*84T>A r.(=) p.(=) g.72637176T>A - SGPL1_000043 rs77332227 0.025 13 516 4301 - - Admin
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