All variants in the TTLL10 gene

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

283 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen prediction     

GVS function     

Splice distance     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Variant remarks     

Owner     
./. - c.-28+1118_-28+1119insC -28 r.(=) p.(=) - intron 1118 g.1110987_1110988insC - TTLL10_000005 - - LOVD
./. - c.-28+1118_-28+1119insC -28 r.(=) p.(=) - intron 1118 g.1110987_1110988insC - TTLL10_000005 - - LOVD
./. - c.-28+1118_-28+1119insC -28 r.(=) p.(=) - intron 1118 g.1110987_1110988insC - TTLL10_000005 - - LOVD
./. - c.-28+1118_-28+1119insC -28 r.(=) p.(=) - intron 1118 g.1110987_1110988insC - TTLL10_000005 - - LOVD
./. - c.-28+1118_-28+1119insC -28 r.(=) p.(=) - intron 1118 g.1110987_1110988insC - TTLL10_000005 - - LOVD
./. - c.-28+1118_-28+1119insC -28 r.(=) p.(=) - intron 1118 g.1110987_1110988insC - TTLL10_000005 - - LOVD
./. - c.-28+1118_-28+1119insC -28 r.(=) p.(=) - intron 1118 g.1110987_1110988insC - TTLL10_000005 - - LOVD
./. - c.-28+1118_-28+1119insC -28 r.(=) p.(=) - intron 1118 g.1110987_1110988insC - TTLL10_000005 - - LOVD
./. - c.-28+1118_-28+1119insC -28 r.(=) p.(=) - intron 1118 g.1110987_1110988insC - TTLL10_000005 - - LOVD
./. - c.-28+1118_-28+1119insC -28 r.(=) p.(=) - intron 1118 g.1110987_1110988insC - TTLL10_000005 - - LOVD
./. - c.-28+1118_-28+1119insC -28 r.(=) p.(=) - intron 1118 g.1110987_1110988insC - TTLL10_000005 - - LOVD
./. - c.-28+1122G>C -28 r.(=) p.(=) - intron 1122 g.1110991G>C - TTLL10_000006 - - LOVD
./. - c.-28+1122G>C -28 r.(=) p.(=) - intron 1122 g.1110991G>C - TTLL10_000006 - - LOVD
./. - c.-28+1122G>C -28 r.(=) p.(=) - intron 1122 g.1110991G>C - TTLL10_000006 - - LOVD
./. - c.-28+1122G>C -28 r.(=) p.(=) - intron 1122 g.1110991G>C - TTLL10_000006 - - LOVD
./. - c.-28+1122G>C -28 r.(=) p.(=) - intron 1122 g.1110991G>C - TTLL10_000006 - - LOVD
./. - c.-28+1122G>C -28 r.(=) p.(=) - intron 1122 g.1110991G>C - TTLL10_000006 - - LOVD
./. - c.-28+1122G>C -28 r.(=) p.(=) - intron 1122 g.1110991G>C - TTLL10_000006 - - LOVD
./. - c.-28+1122G>C -28 r.(=) p.(=) - intron 1122 g.1110991G>C - TTLL10_000006 - - LOVD
./. - c.-28+1122G>C -28 r.(=) p.(=) - intron 1122 g.1110991G>C - TTLL10_000006 - - LOVD
./. - c.-28+1122G>C -28 r.(=) p.(=) - intron 1122 g.1110991G>C - TTLL10_000006 - - LOVD
./. - c.-28+1376T>C -28 r.(=) p.(=) - intron 1376 g.1111245T>C - TTLL10_000012 - - LOVD
./. - c.-28+1376T>C -28 r.(=) p.(=) - intron 1376 g.1111245T>C - TTLL10_000012 - - LOVD
./. - c.-28+1376T>C -28 r.(=) p.(=) - intron 1376 g.1111245T>C - TTLL10_000012 - - LOVD
./. - c.-28+1376T>C -28 r.(=) p.(=) - intron 1376 g.1111245T>C - TTLL10_000012 - - LOVD
./. - c.-28+1376T>C -28 r.(=) p.(=) - intron 1376 g.1111245T>C - TTLL10_000012 - - LOVD
./. - c.-28+1376T>C -28 r.(=) p.(=) - intron 1376 g.1111245T>C - TTLL10_000012 - - LOVD
./. - c.-28+1376T>C -28 r.(=) p.(=) - intron 1376 g.1111245T>C - TTLL10_000012 - - LOVD
./. - c.-28+1376T>C -28 r.(=) p.(=) - intron 1376 g.1111245T>C - TTLL10_000012 - - LOVD
./. - c.-28+1600G>C -28 r.(=) p.(=) - intron 1600 g.1111469G>C - TTLL10_000013 - - LOVD
./. - c.-28+1600G>C -28 r.(=) p.(=) - intron 1600 g.1111469G>C - TTLL10_000013 - - LOVD
./. - c.-28+1600G>C -28 r.(=) p.(=) - intron 1600 g.1111469G>C - TTLL10_000013 - - LOVD
./. - c.-28+1600G>C -28 r.(=) p.(=) - intron 1600 g.1111469G>C - TTLL10_000013 - - LOVD
./. - c.-28+1600G>C -28 r.(=) p.(=) - intron 1600 g.1111469G>C - TTLL10_000013 - - LOVD
./. - c.-28+1600G>C -28 r.(=) p.(=) - intron 1600 g.1111469G>C - TTLL10_000013 - - LOVD
./. - c.-28+1600G>C -28 r.(=) p.(=) - intron 1600 g.1111469G>C - TTLL10_000013 - - LOVD
./. - c.-28+1840A>G -28 r.(=) p.(=) - intron 1840 g.1111709A>G - TTLL10_000014 - - LOVD
./. - c.-28+1840A>G -28 r.(=) p.(=) - intron 1840 g.1111709A>G - TTLL10_000014 - - LOVD
./. - c.-28+1840A>G -28 r.(=) p.(=) - intron 1840 g.1111709A>G - TTLL10_000014 - - LOVD
./. - c.-28+1840A>G -28 r.(=) p.(=) - intron 1840 g.1111709A>G - TTLL10_000014 - - LOVD
./. - c.-28+1840A>G -28 r.(=) p.(=) - intron 1840 g.1111709A>G - TTLL10_000014 - - LOVD
./. - c.-28+1840A>G -28 r.(=) p.(=) - intron 1840 g.1111709A>G - TTLL10_000014 - - LOVD
./. - c.-28+1840A>G -28 r.(=) p.(=) - intron 1840 g.1111709A>G - TTLL10_000014 - - LOVD
./. - c.-28+1840A>G -28 r.(=) p.(=) - intron 1840 g.1111709A>G - TTLL10_000014 - - LOVD
./. - c.-28+1840A>G -28 r.(=) p.(=) - intron 1840 g.1111709A>G - TTLL10_000014 - - LOVD
./. - c.-28+1840A>G -28 r.(=) p.(=) - intron 1840 g.1111709A>G - TTLL10_000014 - - LOVD
./. - c.-28+1840A>G -28 r.(=) p.(=) - intron 1840 g.1111709A>G - TTLL10_000014 - - LOVD
./. - c.-28+1840A>G -28 r.(=) p.(=) - intron 1840 g.1111709A>G - TTLL10_000014 - - LOVD
./. - c.-28+1840A>G -28 r.(=) p.(=) - intron 1840 g.1111709A>G - TTLL10_000014 - - LOVD
./. - c.-28+1840A>G -28 r.(=) p.(=) - intron 1840 g.1111709A>G - TTLL10_000014 - - LOVD
./. - c.-28+1840A>G -28 r.(=) p.(=) - intron 1840 g.1111709A>G - TTLL10_000014 - - LOVD
./. - c.-28+1840A>G -28 r.(=) p.(=) - intron 1840 g.1111709A>G - TTLL10_000014 - - LOVD
./. - c.-28+1840A>G -28 r.(=) p.(=) - intron 1840 g.1111709A>G - TTLL10_000014 - - LOVD
./. - c.-28+1874C>G -28 r.(=) p.(=) - intron 1874 g.1111743C>G - TTLL10_000015 - - LOVD
./. - c.-28+1874C>G -28 r.(=) p.(=) - intron 1874 g.1111743C>G - TTLL10_000015 - - LOVD
./. - c.-28+1874C>G -28 r.(=) p.(=) - intron 1874 g.1111743C>G - TTLL10_000015 - - LOVD
./. - c.-28+1874C>G -28 r.(=) p.(=) - intron 1874 g.1111743C>G - TTLL10_000015 - - LOVD
./. - c.-28+2001G>A -28 r.(=) p.(=) - intron 2001 g.1111870G>A - TTLL10_000016 - - LOVD
./. - c.73G>A 73 r.(?) p.(Gly25Ser) - missense - g.1114668G>A - TTLL10_000007 - - LOVD
./. - c.73G>A 73 r.(?) p.(Gly25Ser) - missense - g.1114668G>A - TTLL10_000007 - - LOVD
./. - c.73G>A 73 r.(?) p.(Gly25Ser) - missense - g.1114668G>A - TTLL10_000007 - - LOVD
./. - c.73G>A 73 r.(?) p.(Gly25Ser) - missense - g.1114668G>A - TTLL10_000007 - - LOVD
./. - c.73G>A 73 r.(?) p.(Gly25Ser) - missense - g.1114668G>A - TTLL10_000007 - - LOVD
./. - c.247C>T 247 r.(?) p.(Arg83Trp) - missense - g.1115461C>T - TTLL10_000017 - - LOVD
./. - c.289T>C 289 r.(?) p.(Cys97Arg) - missense - g.1115503T>C - TTLL10_000018 - - LOVD
./. - c.390C>A 390 r.(?) p.(=) - coding-synonymous - g.1115604C>A - TTLL10_000019 - - LOVD
./. - c.390C>A 390 r.(?) p.(=) - coding-synonymous - g.1115604C>A - TTLL10_000019 - - LOVD
./. - c.506+19C>T 506 r.(=) p.(=) - intron 19 g.1115739C>T - TTLL10_000020 - - LOVD
./. - c.506+19C>T 506 r.(=) p.(=) - intron 19 g.1115739C>T - TTLL10_000020 - - LOVD
./. - c.625+13G>A 625 r.(=) p.(=) - intron 13 g.1115994G>A - TTLL10_000009 - - LOVD
./. - c.625+13G>A 625 r.(=) p.(=) - intron 13 g.1115994G>A - TTLL10_000009 - - LOVD
./. - c.625+13G>A 625 r.(=) p.(=) - intron 13 g.1115994G>A - TTLL10_000009 - - LOVD
./. - c.625+13G>A 625 r.(=) p.(=) - intron 13 g.1115994G>A - TTLL10_000009 - - LOVD
./. - c.625+13G>A 625 r.(=) p.(=) - intron 13 g.1115994G>A - TTLL10_000009 - - LOVD
./. - c.625+13G>A 625 r.(=) p.(=) - intron 13 g.1115994G>A - TTLL10_000009 - - LOVD
./. - c.625+13G>A 625 r.(=) p.(=) - intron 13 g.1115994G>A - TTLL10_000009 - - LOVD
./. - c.625+13G>A 625 r.(=) p.(=) - intron 13 g.1115994G>A - TTLL10_000009 - - LOVD
./. - c.625+13G>A 625 r.(=) p.(=) - intron 13 g.1115994G>A - TTLL10_000009 - - LOVD
./. - c.625+13G>A 625 r.(=) p.(=) - intron 13 g.1115994G>A - TTLL10_000009 - - LOVD
./. - c.625+13G>A 625 r.(=) p.(=) - intron 13 g.1115994G>A - TTLL10_000009 - - LOVD
./. - c.625+13G>A 625 r.(=) p.(=) - intron 13 g.1115994G>A - TTLL10_000009 - - LOVD
./. - c.625+13G>A 625 r.(=) p.(=) - intron 13 g.1115994G>A - TTLL10_000009 - - LOVD
./. - c.625+13G>A 625 r.(=) p.(=) - intron 13 g.1115994G>A - TTLL10_000009 - - LOVD
./. - c.625+13G>A 625 r.(=) p.(=) - intron 13 g.1115994G>A - TTLL10_000009 - - LOVD
./. - c.625+24C>T 625 r.(=) p.(=) - intron 24 g.1116005C>T - TTLL10_000021 - - LOVD
./. - c.625+24C>T 625 r.(=) p.(=) - intron 24 g.1116005C>T - TTLL10_000021 - - LOVD
./. - c.710G>A 710 r.(?) p.(Arg237Gln) - missense - g.1116195G>A - TTLL10_000022 - - LOVD
./. - c.746T>C 746 r.(?) p.(Val249Ala) - missense - g.1116231T>C - TTLL10_000023 - - LOVD
./. - c.746T>C 746 r.(?) p.(Val249Ala) - missense - g.1116231T>C - TTLL10_000023 - - LOVD
./. - c.746T>C 746 r.(?) p.(Val249Ala) - missense - g.1116231T>C - TTLL10_000023 - - LOVD
./. - c.746T>C 746 r.(?) p.(Val249Ala) - missense - g.1116231T>C - TTLL10_000023 - - LOVD
./. - c.746T>C 746 r.(?) p.(Val249Ala) - missense - g.1116231T>C - TTLL10_000023 - - LOVD
./. - c.746T>C 746 r.(?) p.(Val249Ala) - missense - g.1116231T>C - TTLL10_000023 - - LOVD
./. - c.746T>C 746 r.(?) p.(Val249Ala) - missense - g.1116231T>C - TTLL10_000023 - - LOVD
./. - c.746T>C 746 r.(?) p.(Val249Ala) - missense - g.1116231T>C - TTLL10_000023 - - LOVD
./. - c.746T>C 746 r.(?) p.(Val249Ala) - missense - g.1116231T>C - TTLL10_000023 - - LOVD
./. - c.746T>C 746 r.(?) p.(Val249Ala) - missense - g.1116231T>C - TTLL10_000023 - - LOVD
./. - c.831-32G>A 831 r.(=) p.(=) - intron 32 g.1117709G>A - TTLL10_000024 - - LOVD
./. - c.917-44T>C 917 r.(=) p.(=) - intron 44 g.1118212T>C - TTLL10_000001 - - LOVD
./. - c.917-44T>C 917 r.(=) p.(=) - intron 44 g.1118212T>C - TTLL10_000001 - - LOVD
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