Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.50470140C>A | CA367533514 | DDC,FIGNL1 | c.1073G>T (p.Arg358Leu) c.839G>T (p.Arg280Leu) c.715G>T c.794G>T (p.Arg265Leu) c.*174G>T (n.*174G>T) n.229G>T c.-10-22843G>T (n.-10-22843G>T) c.929G>T (p.Arg310Leu) c.959G>T (p.Arg320Leu) c.722G>T (p.Arg241Leu) c.1016G>T (p.Arg339Leu) | gnomAD v4 |
7 | g.50470140C= | CA1706619852 | DDC,FIGNL1 | c.1073G= (p.Arg358=) c.839G= (p.Arg280=) c.715G= c.794G= (p.Arg265=) c.*174G= (n.*174G=) n.229G= c.-10-22843G= (n.-10-22843G=) c.929G= (p.Arg310=) c.959G= (p.Arg320=) c.722G= (p.Arg241=) c.1016G= (p.Arg339=) | |
7 | g.50470140C>G | CA367533512 | DDC,FIGNL1 | c.1073G>C (p.Arg358Pro) c.839G>C (p.Arg280Pro) c.715G>C c.794G>C (p.Arg265Pro) c.*174G>C (n.*174G>C) n.229G>C c.-10-22843G>C (n.-10-22843G>C) c.929G>C (p.Arg310Pro) c.959G>C (p.Arg320Pro) c.722G>C (p.Arg241Pro) c.1016G>C (p.Arg339Pro) | |
7 | g.50470140C>T | CA4262068 | DDC,FIGNL1 | c.1073G>A (p.Arg358His) c.839G>A (p.Arg280His) c.715G>A c.794G>A (p.Arg265His) c.*174G>A (n.*174G>A) n.229G>A c.-10-22843G>A (n.-10-22843G>A) c.929G>A (p.Arg310His) c.959G>A (p.Arg320His) c.722G>A (p.Arg241His) c.1016G>A (p.Arg339His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.50470141G>A | CA367533517 | DDC,FIGNL1 | c.1072C>T (p.Arg358Cys) c.838C>T (p.Arg280Cys) c.714C>T c.793C>T (p.Arg265Cys) c.*173C>T (n.*173C>T) n.228C>T c.-10-22844C>T (n.-10-22844C>T) c.928C>T (p.Arg310Cys) c.958C>T (p.Arg320Cys) c.721C>T (p.Arg241Cys) c.1015C>T (p.Arg339Cys) | ClinVar dbSNP gnomAD v4 |
7 | g.50470141G>C | CA367533524 | DDC,FIGNL1 | c.1072C>G (p.Arg358Gly) c.838C>G (p.Arg280Gly) c.714C>G c.793C>G (p.Arg265Gly) c.*173C>G (n.*173C>G) n.228C>G c.-10-22844C>G (n.-10-22844C>G) c.928C>G (p.Arg310Gly) c.958C>G (p.Arg320Gly) c.721C>G (p.Arg241Gly) c.1015C>G (p.Arg339Gly) | |
7 | g.50470141G= | CA1706619853 | DDC,FIGNL1 | c.1072C= (p.Arg358=) c.838C= (p.Arg280=) c.714C= c.793C= (p.Arg265=) c.*173C= (n.*173C=) n.228C= c.-10-22844C= (n.-10-22844C=) c.928C= (p.Arg310=) c.958C= (p.Arg320=) c.721C= (p.Arg241=) c.1015C= (p.Arg339=) | |
7 | g.50470141G>T | CA367533519 | DDC,FIGNL1 | c.1072C>A (p.Arg358Ser) c.838C>A (p.Arg280Ser) c.714C>A c.793C>A (p.Arg265Ser) c.*173C>A (n.*173C>A) n.228C>A c.-10-22844C>A (n.-10-22844C>A) c.928C>A (p.Arg310Ser) c.958C>A (p.Arg320Ser) c.721C>A (p.Arg241Ser) c.1015C>A (p.Arg339Ser) | |
7 | g.50470142A>C | CA367533529 | DDC,FIGNL1 | c.1071T>G (p.Phe357Leu) c.837T>G (p.Phe279Leu) c.713T>G c.792T>G (p.Phe264Leu) c.*172T>G (n.*172T>G) n.227T>G c.-10-22845T>G (n.-10-22845T>G) c.927T>G (p.Phe309Leu) c.957T>G (p.Phe319Leu) c.720T>G (p.Phe240Leu) c.1014T>G (p.Phe338Leu) | |
7 | g.50470142A>G | CA454931774 | DDC,FIGNL1 | c.1071T>C (p.Phe357=) c.837T>C (p.Phe279=) c.713T>C c.792T>C (p.Phe264=) c.*172T>C (n.*172T>C) n.227T>C c.-10-22845T>C (n.-10-22845T>C) c.927T>C (p.Phe309=) c.957T>C (p.Phe319=) c.720T>C (p.Phe240=) c.1014T>C (p.Phe338=) | |
7 | g.50470142A>T | CA367533530 | DDC,FIGNL1 | c.1071T>A (p.Phe357Leu) c.837T>A (p.Phe279Leu) c.713T>A c.792T>A (p.Phe264Leu) c.*172T>A (n.*172T>A) n.227T>A c.-10-22845T>A (n.-10-22845T>A) c.927T>A (p.Phe309Leu) c.957T>A (p.Phe319Leu) c.720T>A (p.Phe240Leu) c.1014T>A (p.Phe338Leu) | |
7 | g.50470143A>C | CA367533531 | DDC,FIGNL1 | c.1070T>G (p.Phe357Cys) c.836T>G (p.Phe279Cys) c.712T>G c.791T>G (p.Phe264Cys) c.*171T>G (n.*171T>G) n.226T>G c.-10-22846T>G (n.-10-22846T>G) c.926T>G (p.Phe309Cys) c.956T>G (p.Phe319Cys) c.719T>G (p.Phe240Cys) c.1013T>G (p.Phe338Cys) | |
7 | g.50470143A>G | CA367533536 | DDC,FIGNL1 | c.1070T>C (p.Phe357Ser) c.836T>C (p.Phe279Ser) c.712T>C c.791T>C (p.Phe264Ser) c.*171T>C (n.*171T>C) n.226T>C c.-10-22846T>C (n.-10-22846T>C) c.926T>C (p.Phe309Ser) c.956T>C (p.Phe319Ser) c.719T>C (p.Phe240Ser) c.1013T>C (p.Phe338Ser) | |
7 | g.50470143A>T | CA367533538 | DDC,FIGNL1 | c.1070T>A (p.Phe357Tyr) c.836T>A (p.Phe279Tyr) c.712T>A c.791T>A (p.Phe264Tyr) c.*171T>A (n.*171T>A) n.226T>A c.-10-22846T>A (n.-10-22846T>A) c.926T>A (p.Phe309Tyr) c.956T>A (p.Phe319Tyr) c.719T>A (p.Phe240Tyr) c.1013T>A (p.Phe338Tyr) | |
7 | g.50470144A>C | CA367533540 | DDC,FIGNL1 | c.1069T>G (p.Phe357Val) c.835T>G (p.Phe279Val) c.711T>G c.790T>G (p.Phe264Val) c.*170T>G (n.*170T>G) n.225T>G c.-10-22847T>G (n.-10-22847T>G) c.925T>G (p.Phe309Val) c.955T>G (p.Phe319Val) c.718T>G (p.Phe240Val) c.1012T>G (p.Phe338Val) | |
7 | g.50470144A>G | CA367533541 | DDC,FIGNL1 | c.1069T>C (p.Phe357Leu) c.835T>C (p.Phe279Leu) c.711T>C c.790T>C (p.Phe264Leu) c.*170T>C (n.*170T>C) n.225T>C c.-10-22847T>C (n.-10-22847T>C) c.925T>C (p.Phe309Leu) c.955T>C (p.Phe319Leu) c.718T>C (p.Phe240Leu) c.1012T>C (p.Phe338Leu) | |
7 | g.50470144A>T | CA367533544 | DDC,FIGNL1 | c.1069T>A (p.Phe357Ile) c.835T>A (p.Phe279Ile) c.711T>A c.790T>A (p.Phe264Ile) c.*170T>A (n.*170T>A) n.225T>A c.-10-22847T>A (n.-10-22847T>A) c.925T>A (p.Phe309Ile) c.955T>A (p.Phe319Ile) c.718T>A (p.Phe240Ile) c.1012T>A (p.Phe338Ile) | |
7 | g.50470145T>A | CA367533546 | DDC,FIGNL1 | c.1068A>T (p.Arg356Ser) c.834A>T (p.Arg278Ser) c.710A>T c.789A>T (p.Arg263Ser) c.*169A>T (n.*169A>T) n.224A>T c.-10-22848A>T (n.-10-22848A>T) c.924A>T (p.Arg308Ser) c.954A>T (p.Arg318Ser) c.717A>T (p.Arg239Ser) c.1011A>T (p.Arg337Ser) | COSMIC |
7 | g.50470145T>C | CA454931775 | DDC,FIGNL1 | c.1068A>G (p.Arg356=) c.834A>G (p.Arg278=) c.710A>G c.789A>G (p.Arg263=) c.*169A>G (n.*169A>G) n.224A>G c.-10-22848A>G (n.-10-22848A>G) c.924A>G (p.Arg308=) c.954A>G (p.Arg318=) c.717A>G (p.Arg239=) c.1011A>G (p.Arg337=) | |
7 | g.50470145T>G | CA367533551 | DDC,FIGNL1 | c.1068A>C (p.Arg356Ser) c.834A>C (p.Arg278Ser) c.710A>C c.789A>C (p.Arg263Ser) c.*169A>C (n.*169A>C) n.224A>C c.-10-22848A>C (n.-10-22848A>C) c.924A>C (p.Arg308Ser) c.954A>C (p.Arg318Ser) c.717A>C (p.Arg239Ser) c.1011A>C (p.Arg337Ser) | gnomAD v4 |
7 | g.50470148_50470150del | CA2682808967 | DDC,FIGNL1 | c.1066_1068del (p.Arg356del) c.832_834del (p.Arg278del) c.708_710del c.787_789del (p.Arg263del) c.*167_*169del (n.*167_*169del) n.222_224del c.-10-22850_-10-22848del (n.-10-22850_-10-22848del) c.922_924del (p.Arg308del) c.952_954del (p.Arg318del) c.715_717del (p.Arg239del) c.1009_1011del (p.Arg337del) | gnomAD v4 |
7 | g.50470146C>A | CA367533567 | DDC,FIGNL1 | c.1067G>T (p.Arg356Ile) c.833G>T (p.Arg278Ile) c.709G>T c.788G>T (p.Arg263Ile) c.*168G>T (n.*168G>T) n.223G>T c.-10-22849G>T (n.-10-22849G>T) c.923G>T (p.Arg308Ile) c.953G>T (p.Arg318Ile) c.716G>T (p.Arg239Ile) c.1010G>T (p.Arg337Ile) | ClinVar gnomAD v4 COSMIC |
7 | g.50470146C>G | CA367533565 | DDC,FIGNL1 | c.1067G>C (p.Arg356Thr) c.833G>C (p.Arg278Thr) c.709G>C c.788G>C (p.Arg263Thr) c.*168G>C (n.*168G>C) n.223G>C c.-10-22849G>C (n.-10-22849G>C) c.923G>C (p.Arg308Thr) c.953G>C (p.Arg318Thr) c.716G>C (p.Arg239Thr) c.1010G>C (p.Arg337Thr) | |
7 | g.50470146C>T | CA367533555 | DDC,FIGNL1 | c.1067G>A (p.Arg356Lys) c.833G>A (p.Arg278Lys) c.709G>A c.788G>A (p.Arg263Lys) c.*168G>A (n.*168G>A) n.223G>A c.-10-22849G>A (n.-10-22849G>A) c.923G>A (p.Arg308Lys) c.953G>A (p.Arg318Lys) c.716G>A (p.Arg239Lys) c.1010G>A (p.Arg337Lys) | |
7 | g.50470147T>A | CA367533573 | DDC,FIGNL1 | c.1066A>T (p.Arg356Ter) c.832A>T (p.Arg278Ter) c.708A>T c.787A>T (p.Arg263Ter) c.*167A>T (n.*167A>T) n.222A>T c.-10-22850A>T (n.-10-22850A>T) c.922A>T (p.Arg308Ter) c.952A>T (p.Arg318Ter) c.715A>T (p.Arg239Ter) c.1009A>T (p.Arg337Ter) | |
7 | g.50470147T>C | CA367533575 | DDC,FIGNL1 | c.1066A>G (p.Arg356Gly) c.832A>G (p.Arg278Gly) c.708A>G c.787A>G (p.Arg263Gly) c.*167A>G (n.*167A>G) n.222A>G c.-10-22850A>G (n.-10-22850A>G) c.922A>G (p.Arg308Gly) c.952A>G (p.Arg318Gly) c.715A>G (p.Arg239Gly) c.1009A>G (p.Arg337Gly) | gnomAD v4 |
7 | g.50470147T>G | CA454931776 | DDC,FIGNL1 | c.1066A>C (p.Arg356=) c.832A>C (p.Arg278=) c.708A>C c.787A>C (p.Arg263=) c.*167A>C (n.*167A>C) n.222A>C c.-10-22850A>C (n.-10-22850A>C) c.922A>C (p.Arg308=) c.952A>C (p.Arg318=) c.715A>C (p.Arg239=) c.1009A>C (p.Arg337=) | |
7 | g.50470148T>A | CA367533583 | DDC,FIGNL1 | c.1065A>T (p.Arg355Ser) c.831A>T (p.Arg277Ser) c.707A>T c.786A>T (p.Arg262Ser) c.*166A>T (n.*166A>T) n.221A>T c.-10-22851A>T (n.-10-22851A>T) c.921A>T (p.Arg307Ser) c.951A>T (p.Arg317Ser) c.714A>T (p.Arg238Ser) c.1008A>T (p.Arg336Ser) | |
7 | g.50470148T>C | CA454931777 | DDC,FIGNL1 | c.1065A>G (p.Arg355=) c.831A>G (p.Arg277=) c.707A>G c.786A>G (p.Arg262=) c.*166A>G (n.*166A>G) n.221A>G c.-10-22851A>G (n.-10-22851A>G) c.921A>G (p.Arg307=) c.951A>G (p.Arg317=) c.714A>G (p.Arg238=) c.1008A>G (p.Arg336=) | |
7 | g.50470148T>G | CA367533591 | DDC,FIGNL1 | c.1065A>C (p.Arg355Ser) c.831A>C (p.Arg277Ser) c.707A>C c.786A>C (p.Arg262Ser) c.*166A>C (n.*166A>C) n.221A>C c.-10-22851A>C (n.-10-22851A>C) c.921A>C (p.Arg307Ser) c.951A>C (p.Arg317Ser) c.714A>C (p.Arg238Ser) c.1008A>C (p.Arg336Ser) | |
7 | g.50470149C>A | CA367533597 | DDC,FIGNL1 | c.1064G>T (p.Arg355Ile) c.830G>T (p.Arg277Ile) c.706G>T c.785G>T (p.Arg262Ile) c.*165G>T (n.*165G>T) n.220G>T c.-10-22852G>T (n.-10-22852G>T) c.920G>T (p.Arg307Ile) c.950G>T (p.Arg317Ile) c.713G>T (p.Arg238Ile) c.1007G>T (p.Arg336Ile) | |
7 | g.50470149C>G | CA367533599 | DDC,FIGNL1 | c.1064G>C (p.Arg355Thr) c.830G>C (p.Arg277Thr) c.706G>C c.785G>C (p.Arg262Thr) c.*165G>C (n.*165G>C) n.220G>C c.-10-22852G>C (n.-10-22852G>C) c.920G>C (p.Arg307Thr) c.950G>C (p.Arg317Thr) c.713G>C (p.Arg238Thr) c.1007G>C (p.Arg336Thr) | |
7 | g.50470149C>T | CA367533600 | DDC,FIGNL1 | c.1064G>A (p.Arg355Lys) c.830G>A (p.Arg277Lys) c.706G>A c.785G>A (p.Arg262Lys) c.*165G>A (n.*165G>A) n.220G>A c.-10-22852G>A (n.-10-22852G>A) c.920G>A (p.Arg307Lys) c.950G>A (p.Arg317Lys) c.713G>A (p.Arg238Lys) c.1007G>A (p.Arg336Lys) | |
7 | g.50470150T>A | CA367533619 | DDC,FIGNL1 | c.1063A>T (p.Arg355Ter) c.829A>T (p.Arg277Ter) c.705A>T c.784A>T (p.Arg262Ter) c.*164A>T (n.*164A>T) n.219A>T c.-10-22853A>T (n.-10-22853A>T) c.919A>T (p.Arg307Ter) c.949A>T (p.Arg317Ter) c.712A>T (p.Arg238Ter) c.1006A>T (p.Arg336Ter) | |
7 | g.50470150T>C | CA367533621 | DDC,FIGNL1 | c.1063A>G (p.Arg355Gly) c.829A>G (p.Arg277Gly) c.705A>G c.784A>G (p.Arg262Gly) c.*164A>G (n.*164A>G) n.219A>G c.-10-22853A>G (n.-10-22853A>G) c.919A>G (p.Arg307Gly) c.949A>G (p.Arg317Gly) c.712A>G (p.Arg238Gly) c.1006A>G (p.Arg336Gly) | |
7 | g.50470150T>G | CA454931778 | DDC,FIGNL1 | c.1063A>C (p.Arg355=) c.829A>C (p.Arg277=) c.705A>C c.784A>C (p.Arg262=) c.*164A>C (n.*164A>C) n.219A>C c.-10-22853A>C (n.-10-22853A>C) c.919A>C (p.Arg307=) c.949A>C (p.Arg317=) c.712A>C (p.Arg238=) c.1006A>C (p.Arg336=) | |
7 | g.50470150dup | CA1139771375 | DDC,FIGNL1 | c.1063dup (p.Arg355LysfsTer13) c.829dup (p.Arg277LysfsTer13) c.705dup c.784dup (p.Arg262LysfsTer13) c.*164dup (n.*164dup) n.219dup c.-10-22853dup (n.-10-22853dup) c.919dup (p.Arg307LysfsTer13) c.949dup (p.Arg317LysfsTer13) c.712dup (p.Arg238LysfsTer13) c.1006dup (p.Arg336LysfsTer13) | |
7 | g.50470151G>A | CA454931781 | DDC,FIGNL1 | c.1062C>T (p.Gly354=) c.828C>T (p.Gly276=) c.704C>T c.783C>T (p.Gly261=) c.*163C>T (n.*163C>T) n.218C>T c.-10-22854C>T (n.-10-22854C>T) c.918C>T (p.Gly306=) c.948C>T (p.Gly316=) c.711C>T (p.Gly237=) c.1005C>T (p.Gly335=) | |
7 | g.50470151G>C | CA454931779 | DDC,FIGNL1 | c.1062C>G (p.Gly354=) c.828C>G (p.Gly276=) c.704C>G c.783C>G (p.Gly261=) c.*163C>G (n.*163C>G) n.218C>G c.-10-22854C>G (n.-10-22854C>G) c.918C>G (p.Gly306=) c.948C>G (p.Gly316=) c.711C>G (p.Gly237=) c.1005C>G (p.Gly335=) | |
7 | g.50470151G= | CA1706619854 | DDC,FIGNL1 | c.1062C= (p.Gly354=) c.828C= (p.Gly276=) c.704C= c.783C= (p.Gly261=) c.*163C= (n.*163C=) n.218C= c.-10-22854C= (n.-10-22854C=) c.918C= (p.Gly306=) c.948C= (p.Gly316=) c.711C= (p.Gly237=) c.1005C= (p.Gly335=) | |
7 | g.50470151G>T | CA454931780 | DDC,FIGNL1 | c.1062C>A (p.Gly354=) c.828C>A (p.Gly276=) c.704C>A c.783C>A (p.Gly261=) c.*163C>A (n.*163C>A) n.218C>A c.-10-22854C>A (n.-10-22854C>A) c.918C>A (p.Gly306=) c.948C>A (p.Gly316=) c.711C>A (p.Gly237=) c.1005C>A (p.Gly335=) | ClinVar dbSNP gnomAD v4 |
7 | g.50470152C>A | CA367533632 | DDC,FIGNL1 | c.1061G>T (p.Gly354Val) c.827G>T (p.Gly276Val) c.703G>T c.782G>T (p.Gly261Val) c.*162G>T (n.*162G>T) n.217G>T c.-10-22855G>T (n.-10-22855G>T) c.917G>T (p.Gly306Val) c.947G>T (p.Gly316Val) c.710G>T (p.Gly237Val) c.1004G>T (p.Gly335Val) | gnomAD v4 |
7 | g.50470152C= | CA1706619855 | DDC,FIGNL1 | c.1061G= (p.Gly354=) c.827G= (p.Gly276=) c.703G= c.782G= (p.Gly261=) c.*162G= (n.*162G=) n.217G= c.-10-22855G= (n.-10-22855G=) c.917G= (p.Gly306=) c.947G= (p.Gly316=) c.710G= (p.Gly237=) c.1004G= (p.Gly335=) | |
7 | g.50470152C>G | CA367533643 | DDC,FIGNL1 | c.1061G>C (p.Gly354Ala) c.827G>C (p.Gly276Ala) c.703G>C c.782G>C (p.Gly261Ala) c.*162G>C (n.*162G>C) n.217G>C c.-10-22855G>C (n.-10-22855G>C) c.917G>C (p.Gly306Ala) c.947G>C (p.Gly316Ala) c.710G>C (p.Gly237Ala) c.1004G>C (p.Gly335Ala) | ClinVar dbSNP |
7 | g.50470152C>T | CA4262069 | DDC,FIGNL1 | c.1061G>A (p.Gly354Asp) c.827G>A (p.Gly276Asp) c.703G>A c.782G>A (p.Gly261Asp) c.*162G>A (n.*162G>A) n.217G>A c.-10-22855G>A (n.-10-22855G>A) c.917G>A (p.Gly306Asp) c.947G>A (p.Gly316Asp) c.710G>A (p.Gly237Asp) c.1004G>A (p.Gly335Asp) | dbSNP ExAC gnomAD v2 |
7 | g.50470153C>A | CA367533654 | DDC,FIGNL1 | c.1060G>T (p.Gly354Cys) c.826G>T (p.Gly276Cys) c.702G>T c.781G>T (p.Gly261Cys) c.*161G>T (n.*161G>T) n.216G>T c.-10-22856G>T (n.-10-22856G>T) c.916G>T (p.Gly306Cys) c.946G>T (p.Gly316Cys) c.709G>T (p.Gly237Cys) c.1003G>T (p.Gly335Cys) | |
7 | g.50470153C>G | CA367533657 | DDC,FIGNL1 | c.1060G>C (p.Gly354Arg) c.826G>C (p.Gly276Arg) c.702G>C c.781G>C (p.Gly261Arg) c.*161G>C (n.*161G>C) n.216G>C c.-10-22856G>C (n.-10-22856G>C) c.916G>C (p.Gly306Arg) c.946G>C (p.Gly316Arg) c.709G>C (p.Gly237Arg) c.1003G>C (p.Gly335Arg) | |
7 | g.50470153C>T | CA367533649 | DDC,FIGNL1 | c.1060G>A (p.Gly354Ser) c.826G>A (p.Gly276Ser) c.702G>A c.781G>A (p.Gly261Ser) c.*161G>A (n.*161G>A) n.216G>A c.-10-22856G>A (n.-10-22856G>A) c.916G>A (p.Gly306Ser) c.946G>A (p.Gly316Ser) c.709G>A (p.Gly237Ser) c.1003G>A (p.Gly335Ser) | |
7 | g.50470154C>A | CA454931782 | DDC,FIGNL1 | c.1059G>T (p.Leu353=) c.825G>T (p.Leu275=) c.701G>T c.780G>T (p.Leu260=) c.*160G>T (n.*160G>T) n.215G>T c.-10-22857G>T (n.-10-22857G>T) c.915G>T (p.Leu305=) c.945G>T (p.Leu315=) c.708G>T (p.Leu236=) c.1002G>T (p.Leu334=) | |
7 | g.50470154C>G | CA454931783 | DDC,FIGNL1 | c.1059G>C (p.Leu353=) c.825G>C (p.Leu275=) c.701G>C c.780G>C (p.Leu260=) c.*160G>C (n.*160G>C) n.215G>C c.-10-22857G>C (n.-10-22857G>C) c.915G>C (p.Leu305=) c.945G>C (p.Leu315=) c.708G>C (p.Leu236=) c.1002G>C (p.Leu334=) |