Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.50470053A>C | CA2682808961 | DDC,FIGNL1 | c.1140+20T>G (n.1140+20T>G) c.906+20T>G (n.906+20T>G) c.782+20T>G c.861+20T>G (n.861+20T>G) c.*241+20T>G (n.*241+20T>G) n.296+20T>G c.-10-22756T>G (n.-10-22756T>G) c.996+20T>G (n.996+20T>G) c.1026+20T>G (n.1026+20T>G) c.789+20T>G (n.789+20T>G) c.1083+20T>G (n.1083+20T>G) | gnomAD v4 |
7 | g.50470053A>G | CA2682808962 | DDC,FIGNL1 | c.1140+20T>C (n.1140+20T>C) c.906+20T>C (n.906+20T>C) c.782+20T>C c.861+20T>C (n.861+20T>C) c.*241+20T>C (n.*241+20T>C) n.296+20T>C c.-10-22756T>C (n.-10-22756T>C) c.996+20T>C (n.996+20T>C) c.1026+20T>C (n.1026+20T>C) c.789+20T>C (n.789+20T>C) c.1083+20T>C (n.1083+20T>C) | gnomAD v4 |
7 | g.50470054A= | CA1706619824 | DDC,FIGNL1 | c.1140+19T= (n.1140+19T=) c.906+19T= (n.906+19T=) c.782+19T= c.861+19T= (n.861+19T=) c.*241+19T= (n.*241+19T=) n.296+19T= c.-10-22757T= (n.-10-22757T=) c.996+19T= (n.996+19T=) c.1026+19T= (n.1026+19T=) c.789+19T= (n.789+19T=) c.1083+19T= (n.1083+19T=) | |
7 | g.50470054A>G | CA574298287 | DDC,FIGNL1 | c.1140+19T>C (n.1140+19T>C) c.906+19T>C (n.906+19T>C) c.782+19T>C c.861+19T>C (n.861+19T>C) c.*241+19T>C (n.*241+19T>C) n.296+19T>C c.-10-22757T>C (n.-10-22757T>C) c.996+19T>C (n.996+19T>C) c.1026+19T>C (n.1026+19T>C) c.789+19T>C (n.789+19T>C) c.1083+19T>C (n.1083+19T>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.50470056A= | CA1706619825 | DDC,FIGNL1 | c.1140+17T= (n.1140+17T=) c.906+17T= (n.906+17T=) c.782+17T= c.861+17T= (n.861+17T=) c.*241+17T= (n.*241+17T=) n.296+17T= c.-10-22759T= (n.-10-22759T=) c.996+17T= (n.996+17T=) c.1026+17T= (n.1026+17T=) c.789+17T= (n.789+17T=) c.1083+17T= (n.1083+17T=) | |
7 | g.50470056A>C | CA158224330 | DDC,FIGNL1 | c.1140+17T>G (n.1140+17T>G) c.906+17T>G (n.906+17T>G) c.782+17T>G c.861+17T>G (n.861+17T>G) c.*241+17T>G (n.*241+17T>G) n.296+17T>G c.-10-22759T>G (n.-10-22759T>G) c.996+17T>G (n.996+17T>G) c.1026+17T>G (n.1026+17T>G) c.789+17T>G (n.789+17T>G) c.1083+17T>G (n.1083+17T>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.50470056A>G | CA4262062 | DDC,FIGNL1 | c.1140+17T>C (n.1140+17T>C) c.906+17T>C (n.906+17T>C) c.782+17T>C c.861+17T>C (n.861+17T>C) c.*241+17T>C (n.*241+17T>C) n.296+17T>C c.-10-22759T>C (n.-10-22759T>C) c.996+17T>C (n.996+17T>C) c.1026+17T>C (n.1026+17T>C) c.789+17T>C (n.789+17T>C) c.1083+17T>C (n.1083+17T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.50470057A>G | CA2578891307 | DDC,FIGNL1 | c.1140+16T>C (n.1140+16T>C) c.906+16T>C (n.906+16T>C) c.782+16T>C c.861+16T>C (n.861+16T>C) c.*241+16T>C (n.*241+16T>C) n.296+16T>C c.-10-22760T>C (n.-10-22760T>C) c.996+16T>C (n.996+16T>C) c.1026+16T>C (n.1026+16T>C) c.789+16T>C (n.789+16T>C) c.1083+16T>C (n.1083+16T>C) | |
7 | g.50470063del | CA2578891308 | DDC,FIGNL1 | c.1140+14del (n.1140+14del) c.906+14del (n.906+14del) c.782+14del c.861+14del (n.861+14del) c.*241+14del (n.*241+14del) n.296+14del c.-10-22762del (n.-10-22762del) c.996+14del (n.996+14del) c.1026+14del (n.1026+14del) c.789+14del (n.789+14del) c.1083+14del (n.1083+14del) | gnomAD v4 |
7 | g.50470065A>G | CA2682808963 | DDC,FIGNL1 | c.1140+8T>C (n.1140+8T>C) c.906+8T>C (n.906+8T>C) c.782+8T>C c.861+8T>C (n.861+8T>C) c.*241+8T>C (n.*241+8T>C) n.296+8T>C c.-10-22768T>C (n.-10-22768T>C) c.996+8T>C (n.996+8T>C) c.1026+8T>C (n.1026+8T>C) c.789+8T>C (n.789+8T>C) c.1083+8T>C (n.1083+8T>C) | gnomAD v4 |
7 | g.50470066A= | CA1706619826 | DDC,FIGNL1 | c.1140+7T= (n.1140+7T=) c.906+7T= (n.906+7T=) c.782+7T= c.861+7T= (n.861+7T=) c.*241+7T= (n.*241+7T=) n.296+7T= c.-10-22769T= (n.-10-22769T=) c.996+7T= (n.996+7T=) c.1026+7T= (n.1026+7T=) c.789+7T= (n.789+7T=) c.1083+7T= (n.1083+7T=) | |
7 | g.50470066A>T | CA1706619827 | DDC,FIGNL1 | c.1140+7T>A (n.1140+7T>A) c.906+7T>A (n.906+7T>A) c.782+7T>A c.861+7T>A (n.861+7T>A) c.*241+7T>A (n.*241+7T>A) n.296+7T>A c.-10-22769T>A (n.-10-22769T>A) c.996+7T>A (n.996+7T>A) c.1026+7T>A (n.1026+7T>A) c.789+7T>A (n.789+7T>A) c.1083+7T>A (n.1083+7T>A) | dbSNP |
7 | g.50470068G>A | CA1101199649 | DDC,FIGNL1 | c.1140+5C>T (n.1140+5C>T) c.906+5C>T (n.906+5C>T) c.782+5C>T c.861+5C>T (n.861+5C>T) c.*241+5C>T (n.*241+5C>T) n.296+5C>T c.-10-22771C>T (n.-10-22771C>T) c.996+5C>T (n.996+5C>T) c.1026+5C>T (n.1026+5C>T) c.789+5C>T (n.789+5C>T) c.1083+5C>T (n.1083+5C>T) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.50470068G= | CA1706619828 | DDC,FIGNL1 | c.1140+5C= (n.1140+5C=) c.906+5C= (n.906+5C=) c.782+5C= c.861+5C= (n.861+5C=) c.*241+5C= (n.*241+5C=) n.296+5C= c.-10-22771C= (n.-10-22771C=) c.996+5C= (n.996+5C=) c.1026+5C= (n.1026+5C=) c.789+5C= (n.789+5C=) c.1083+5C= (n.1083+5C=) | |
7 | g.50470068G>T | CA2682808964 | DDC,FIGNL1 | c.1140+5C>A (n.1140+5C>A) c.906+5C>A (n.906+5C>A) c.782+5C>A c.861+5C>A (n.861+5C>A) c.*241+5C>A (n.*241+5C>A) n.296+5C>A c.-10-22771C>A (n.-10-22771C>A) c.996+5C>A (n.996+5C>A) c.1026+5C>A (n.1026+5C>A) c.789+5C>A (n.789+5C>A) c.1083+5C>A (n.1083+5C>A) | gnomAD v4 |
7 | g.50470069T>C | CA574298288 | DDC,FIGNL1 | c.1140+4A>G (n.1140+4A>G) c.906+4A>G (n.906+4A>G) c.782+4A>G c.861+4A>G (n.861+4A>G) c.*241+4A>G (n.*241+4A>G) n.296+4A>G c.-10-22772A>G (n.-10-22772A>G) c.996+4A>G (n.996+4A>G) c.1026+4A>G (n.1026+4A>G) c.789+4A>G (n.789+4A>G) c.1083+4A>G (n.1083+4A>G) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.50470069T= | CA1706619829 | DDC,FIGNL1 | c.1140+4A= (n.1140+4A=) c.906+4A= (n.906+4A=) c.782+4A= c.861+4A= (n.861+4A=) c.*241+4A= (n.*241+4A=) n.296+4A= c.-10-22772A= (n.-10-22772A=) c.996+4A= (n.996+4A=) c.1026+4A= (n.1026+4A=) c.789+4A= (n.789+4A=) c.1083+4A= (n.1083+4A=) | |
7 | g.50470070C>T | CA2682808965 | DDC,FIGNL1 | c.1140+3G>A (n.1140+3G>A) c.906+3G>A (n.906+3G>A) c.782+3G>A c.861+3G>A (n.861+3G>A) c.*241+3G>A (n.*241+3G>A) n.296+3G>A c.-10-22773G>A (n.-10-22773G>A) c.996+3G>A (n.996+3G>A) c.1026+3G>A (n.1026+3G>A) c.789+3G>A (n.789+3G>A) c.1083+3G>A (n.1083+3G>A) | gnomAD v4 |
7 | g.50470071A= | CA1706619830 | DDC,FIGNL1 | c.1140+2T= (n.1140+2T=) c.906+2T= (n.906+2T=) c.782+2T= c.861+2T= (n.861+2T=) c.*241+2T= (n.*241+2T=) n.296+2T= c.-10-22774T= (n.-10-22774T=) c.996+2T= (n.996+2T=) c.1026+2T= (n.1026+2T=) c.789+2T= (n.789+2T=) c.1083+2T= (n.1083+2T=) | |
7 | g.50470071A>C | CA367533001 | DDC,FIGNL1 | c.1140+2T>G (n.1140+2T>G) c.906+2T>G (n.906+2T>G) c.782+2T>G c.861+2T>G (n.861+2T>G) c.*241+2T>G (n.*241+2T>G) n.296+2T>G c.-10-22774T>G (n.-10-22774T>G) c.996+2T>G (n.996+2T>G) c.1026+2T>G (n.1026+2T>G) c.789+2T>G (n.789+2T>G) c.1083+2T>G (n.1083+2T>G) | |
7 | g.50470071A>G | CA367533003 | DDC,FIGNL1 | c.1140+2T>C (n.1140+2T>C) c.906+2T>C (n.906+2T>C) c.782+2T>C c.861+2T>C (n.861+2T>C) c.*241+2T>C (n.*241+2T>C) n.296+2T>C c.-10-22774T>C (n.-10-22774T>C) c.996+2T>C (n.996+2T>C) c.1026+2T>C (n.1026+2T>C) c.789+2T>C (n.789+2T>C) c.1083+2T>C (n.1083+2T>C) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.50470071A>T | CA367533011 | DDC,FIGNL1 | c.1140+2T>A (n.1140+2T>A) c.906+2T>A (n.906+2T>A) c.782+2T>A c.861+2T>A (n.861+2T>A) c.*241+2T>A (n.*241+2T>A) n.296+2T>A c.-10-22774T>A (n.-10-22774T>A) c.996+2T>A (n.996+2T>A) c.1026+2T>A (n.1026+2T>A) c.789+2T>A (n.789+2T>A) c.1083+2T>A (n.1083+2T>A) | |
7 | g.50470072C>A | CA367533012 | DDC,FIGNL1 | c.1140+1G>T (n.1140+1G>T) c.906+1G>T (n.906+1G>T) c.782+1G>T c.861+1G>T (n.861+1G>T) c.*241+1G>T (n.*241+1G>T) n.296+1G>T c.-10-22775G>T (n.-10-22775G>T) c.996+1G>T (n.996+1G>T) c.1026+1G>T (n.1026+1G>T) c.789+1G>T (n.789+1G>T) c.1083+1G>T (n.1083+1G>T) | |
7 | g.50470072C>G | CA367533014 | DDC,FIGNL1 | c.1140+1G>C (n.1140+1G>C) c.906+1G>C (n.906+1G>C) c.782+1G>C c.861+1G>C (n.861+1G>C) c.*241+1G>C (n.*241+1G>C) n.296+1G>C c.-10-22775G>C (n.-10-22775G>C) c.996+1G>C (n.996+1G>C) c.1026+1G>C (n.1026+1G>C) c.789+1G>C (n.789+1G>C) c.1083+1G>C (n.1083+1G>C) | gnomAD v4 |
7 | g.50470072C>T | CA367533022 | DDC,FIGNL1 | c.1140+1G>A (n.1140+1G>A) c.906+1G>A (n.906+1G>A) c.782+1G>A c.861+1G>A (n.861+1G>A) c.*241+1G>A (n.*241+1G>A) n.296+1G>A c.-10-22775G>A (n.-10-22775G>A) c.996+1G>A (n.996+1G>A) c.1026+1G>A (n.1026+1G>A) c.789+1G>A (n.789+1G>A) c.1083+1G>A (n.1083+1G>A) | |
7 | g.50470073C>A | CA367533025 | DDC,FIGNL1 | c.1140G>T (p.Lys380Asn) c.906G>T (p.Lys302Asn) c.782G>T c.861G>T (p.Lys287Asn) c.*241G>T (n.*241G>T) n.296G>T c.-10-22776G>T (n.-10-22776G>T) c.996G>T (p.Lys332Asn) c.1026G>T (p.Lys342Asn) c.789G>T (p.Lys263Asn) c.1083G>T (p.Lys361Asn) | |
7 | g.50470073C>G | CA367533027 | DDC,FIGNL1 | c.1140G>C (p.Lys380Asn) c.906G>C (p.Lys302Asn) c.782G>C c.861G>C (p.Lys287Asn) c.*241G>C (n.*241G>C) n.296G>C c.-10-22776G>C (n.-10-22776G>C) c.996G>C (p.Lys332Asn) c.1026G>C (p.Lys342Asn) c.789G>C (p.Lys263Asn) c.1083G>C (p.Lys361Asn) | |
7 | g.50470073C>T | CA454931731 | DDC,FIGNL1 | c.1140G>A (p.Lys380=) c.906G>A (p.Lys302=) c.782G>A c.861G>A (p.Lys287=) c.*241G>A (n.*241G>A) n.296G>A c.-10-22776G>A (n.-10-22776G>A) c.996G>A (p.Lys332=) c.1026G>A (p.Lys342=) c.789G>A (p.Lys263=) c.1083G>A (p.Lys361=) | |
7 | g.50470074T>A | CA367533033 | DDC,FIGNL1 | c.1139A>T (p.Lys380Met) c.905A>T (p.Lys302Met) c.781A>T c.860A>T (p.Lys287Met) c.*240A>T (n.*240A>T) n.295A>T c.-10-22777A>T (n.-10-22777A>T) c.995A>T (p.Lys332Met) c.1025A>T (p.Lys342Met) c.788A>T (p.Lys263Met) c.1082A>T (p.Lys361Met) | |
7 | g.50470074T>C | CA367533032 | DDC,FIGNL1 | c.1139A>G (p.Lys380Arg) c.905A>G (p.Lys302Arg) c.781A>G c.860A>G (p.Lys287Arg) c.*240A>G (n.*240A>G) n.295A>G c.-10-22777A>G (n.-10-22777A>G) c.995A>G (p.Lys332Arg) c.1025A>G (p.Lys342Arg) c.788A>G (p.Lys263Arg) c.1082A>G (p.Lys361Arg) | |
7 | g.50470074T>G | CA367533031 | DDC,FIGNL1 | c.1139A>C (p.Lys380Thr) c.905A>C (p.Lys302Thr) c.781A>C c.860A>C (p.Lys287Thr) c.*240A>C (n.*240A>C) n.295A>C c.-10-22777A>C (n.-10-22777A>C) c.995A>C (p.Lys332Thr) c.1025A>C (p.Lys342Thr) c.788A>C (p.Lys263Thr) c.1082A>C (p.Lys361Thr) | |
7 | g.50470075T>A | CA367533034 | DDC,FIGNL1 | c.1138A>T (p.Lys380Ter) c.904A>T (p.Lys302Ter) c.780A>T c.859A>T (p.Lys287Ter) c.*239A>T (n.*239A>T) n.294A>T c.-10-22778A>T (n.-10-22778A>T) c.994A>T (p.Lys332Ter) c.1024A>T (p.Lys342Ter) c.787A>T (p.Lys263Ter) c.1081A>T (p.Lys361Ter) | |
7 | g.50470075T>C | CA367533035 | DDC,FIGNL1 | c.1138A>G (p.Lys380Glu) c.904A>G (p.Lys302Glu) c.780A>G c.859A>G (p.Lys287Glu) c.*239A>G (n.*239A>G) n.294A>G c.-10-22778A>G (n.-10-22778A>G) c.994A>G (p.Lys332Glu) c.1024A>G (p.Lys342Glu) c.787A>G (p.Lys263Glu) c.1081A>G (p.Lys361Glu) | |
7 | g.50470075T>G | CA367533036 | DDC,FIGNL1 | c.1138A>C (p.Lys380Gln) c.904A>C (p.Lys302Gln) c.780A>C c.859A>C (p.Lys287Gln) c.*239A>C (n.*239A>C) n.294A>C c.-10-22778A>C (n.-10-22778A>C) c.994A>C (p.Lys332Gln) c.1024A>C (p.Lys342Gln) c.787A>C (p.Lys263Gln) c.1081A>C (p.Lys361Gln) | |
7 | g.50470076G>A | CA454931734 | DDC,FIGNL1 | c.1137C>T (p.Arg379=) c.903C>T (p.Arg301=) c.779C>T c.858C>T (p.Arg286=) c.*238C>T (n.*238C>T) n.293C>T c.-10-22779C>T (n.-10-22779C>T) c.993C>T (p.Arg331=) c.1023C>T (p.Arg341=) c.786C>T (p.Arg262=) c.1080C>T (p.Arg360=) | gnomAD v4 |
7 | g.50470076G>C | CA454931733 | DDC,FIGNL1 | c.1137C>G (p.Arg379=) c.903C>G (p.Arg301=) c.779C>G c.858C>G (p.Arg286=) c.*238C>G (n.*238C>G) n.293C>G c.-10-22779C>G (n.-10-22779C>G) c.993C>G (p.Arg331=) c.1023C>G (p.Arg341=) c.786C>G (p.Arg262=) c.1080C>G (p.Arg360=) | |
7 | g.50470076G>T | CA454931732 | DDC,FIGNL1 | c.1137C>A (p.Arg379=) c.903C>A (p.Arg301=) c.779C>A c.858C>A (p.Arg286=) c.*238C>A (n.*238C>A) n.293C>A c.-10-22779C>A (n.-10-22779C>A) c.993C>A (p.Arg331=) c.1023C>A (p.Arg341=) c.786C>A (p.Arg262=) c.1080C>A (p.Arg360=) | gnomAD v4 |
7 | g.50470077C>A | CA367533037 | DDC,FIGNL1 | c.1136G>T (p.Arg379Leu) c.902G>T (p.Arg301Leu) c.778G>T c.857G>T (p.Arg286Leu) c.*237G>T (n.*237G>T) n.292G>T c.-10-22780G>T (n.-10-22780G>T) c.992G>T (p.Arg331Leu) c.1022G>T (p.Arg341Leu) c.785G>T (p.Arg262Leu) c.1079G>T (p.Arg360Leu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.50470077C= | CA1706619831 | DDC,FIGNL1 | c.1136G= (p.Arg379=) c.902G= (p.Arg301=) c.778G= c.857G= (p.Arg286=) c.*237G= (n.*237G=) n.292G= c.-10-22780G= (n.-10-22780G=) c.992G= (p.Arg331=) c.1022G= (p.Arg341=) c.785G= (p.Arg262=) c.1079G= (p.Arg360=) | |
7 | g.50470077C>G | CA367533038 | DDC,FIGNL1 | c.1136G>C (p.Arg379Pro) c.902G>C (p.Arg301Pro) c.778G>C c.857G>C (p.Arg286Pro) c.*237G>C (n.*237G>C) n.292G>C c.-10-22780G>C (n.-10-22780G>C) c.992G>C (p.Arg331Pro) c.1022G>C (p.Arg341Pro) c.785G>C (p.Arg262Pro) c.1079G>C (p.Arg360Pro) | gnomAD v4 |
7 | g.50470077C>T | CA4262063 | DDC,FIGNL1 | c.1136G>A (p.Arg379His) c.902G>A (p.Arg301His) c.778G>A c.857G>A (p.Arg286His) c.*237G>A (n.*237G>A) n.292G>A c.-10-22780G>A (n.-10-22780G>A) c.992G>A (p.Arg331His) c.1022G>A (p.Arg341His) c.785G>A (p.Arg262His) c.1079G>A (p.Arg360His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50470078G>A | CA4262064 | DDC,FIGNL1 | c.1135C>T (p.Arg379Cys) c.901C>T (p.Arg301Cys) c.777C>T c.856C>T (p.Arg286Cys) c.*236C>T (n.*236C>T) n.291C>T c.-10-22781C>T (n.-10-22781C>T) c.991C>T (p.Arg331Cys) c.1021C>T (p.Arg341Cys) c.784C>T (p.Arg262Cys) c.1078C>T (p.Arg360Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.50470078G>C | CA367533049 | DDC,FIGNL1 | c.1135C>G (p.Arg379Gly) c.901C>G (p.Arg301Gly) c.777C>G c.856C>G (p.Arg286Gly) c.*236C>G (n.*236C>G) n.291C>G c.-10-22781C>G (n.-10-22781C>G) c.991C>G (p.Arg331Gly) c.1021C>G (p.Arg341Gly) c.784C>G (p.Arg262Gly) c.1078C>G (p.Arg360Gly) | |
7 | g.50470078G= | CA1706619832 | DDC,FIGNL1 | c.1135C= (p.Arg379=) c.901C= (p.Arg301=) c.777C= c.856C= (p.Arg286=) c.*236C= (n.*236C=) n.291C= c.-10-22781C= (n.-10-22781C=) c.991C= (p.Arg331=) c.1021C= (p.Arg341=) c.784C= (p.Arg262=) c.1078C= (p.Arg360=) | |
7 | g.50470078G>T | CA367533052 | DDC,FIGNL1 | c.1135C>A (p.Arg379Ser) c.901C>A (p.Arg301Ser) c.777C>A c.856C>A (p.Arg286Ser) c.*236C>A (n.*236C>A) n.291C>A c.-10-22781C>A (n.-10-22781C>A) c.991C>A (p.Arg331Ser) c.1021C>A (p.Arg341Ser) c.784C>A (p.Arg262Ser) c.1078C>A (p.Arg360Ser) | gnomAD v4 COSMIC |
7 | g.50470079G>A | CA454931735 | DDC,FIGNL1 | c.1134C>T (p.Ile378=) c.900C>T (p.Ile300=) c.776C>T c.855C>T (p.Ile285=) c.*235C>T (n.*235C>T) n.290C>T c.-10-22782C>T (n.-10-22782C>T) c.990C>T (p.Ile330=) c.1020C>T (p.Ile340=) c.783C>T (p.Ile261=) c.1077C>T (p.Ile359=) | ClinVar |
7 | g.50470079G>C | CA367533053 | DDC,FIGNL1 | c.1134C>G (p.Ile378Met) c.900C>G (p.Ile300Met) c.776C>G c.855C>G (p.Ile285Met) c.*235C>G (n.*235C>G) n.290C>G c.-10-22782C>G (n.-10-22782C>G) c.990C>G (p.Ile330Met) c.1020C>G (p.Ile340Met) c.783C>G (p.Ile261Met) c.1077C>G (p.Ile359Met) | COSMIC |
7 | g.50470079G>T | CA454931736 | DDC,FIGNL1 | c.1134C>A (p.Ile378=) c.900C>A (p.Ile300=) c.776C>A c.855C>A (p.Ile285=) c.*235C>A (n.*235C>A) n.290C>A c.-10-22782C>A (n.-10-22782C>A) c.990C>A (p.Ile330=) c.1020C>A (p.Ile340=) c.783C>A (p.Ile261=) c.1077C>A (p.Ile359=) | gnomAD v4 |
7 | g.50470080A>C | CA367533055 | DDC,FIGNL1 | c.1133T>G (p.Ile378Ser) c.899T>G (p.Ile300Ser) c.775T>G c.854T>G (p.Ile285Ser) c.*234T>G (n.*234T>G) n.289T>G c.-10-22783T>G (n.-10-22783T>G) c.989T>G (p.Ile330Ser) c.1019T>G (p.Ile340Ser) c.782T>G (p.Ile261Ser) c.1076T>G (p.Ile359Ser) | |
7 | g.50470080A>G | CA367533065 | DDC,FIGNL1 | c.1133T>C (p.Ile378Thr) c.899T>C (p.Ile300Thr) c.775T>C c.854T>C (p.Ile285Thr) c.*234T>C (n.*234T>C) n.289T>C c.-10-22783T>C (n.-10-22783T>C) c.989T>C (p.Ile330Thr) c.1019T>C (p.Ile340Thr) c.782T>C (p.Ile261Thr) c.1076T>C (p.Ile359Thr) | gnomAD v4 |
7 | g.50470080A>T | CA367533067 | DDC,FIGNL1 | c.1133T>A (p.Ile378Asn) c.899T>A (p.Ile300Asn) c.775T>A c.854T>A (p.Ile285Asn) c.*234T>A (n.*234T>A) n.289T>A c.-10-22783T>A (n.-10-22783T>A) c.989T>A (p.Ile330Asn) c.1019T>A (p.Ile340Asn) c.782T>A (p.Ile261Asn) c.1076T>A (p.Ile359Asn) | |
7 | g.50470081T>A | CA367533071 | DDC,FIGNL1 | c.1132A>T (p.Ile378Phe) c.898A>T (p.Ile300Phe) c.774A>T c.853A>T (p.Ile285Phe) c.*233A>T (n.*233A>T) n.288A>T c.-10-22784A>T (n.-10-22784A>T) c.988A>T (p.Ile330Phe) c.1018A>T (p.Ile340Phe) c.781A>T (p.Ile261Phe) c.1075A>T (p.Ile359Phe) | |
7 | g.50470081T>C | CA4262065 | DDC,FIGNL1 | c.1132A>G (p.Ile378Val) c.898A>G (p.Ile300Val) c.774A>G c.853A>G (p.Ile285Val) c.*233A>G (n.*233A>G) n.288A>G c.-10-22784A>G (n.-10-22784A>G) c.988A>G (p.Ile330Val) c.1018A>G (p.Ile340Val) c.781A>G (p.Ile261Val) c.1075A>G (p.Ile359Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.50470081T>G | CA367533073 | DDC,FIGNL1 | c.1132A>C (p.Ile378Leu) c.898A>C (p.Ile300Leu) c.774A>C c.853A>C (p.Ile285Leu) c.*233A>C (n.*233A>C) n.288A>C c.-10-22784A>C (n.-10-22784A>C) c.988A>C (p.Ile330Leu) c.1018A>C (p.Ile340Leu) c.781A>C (p.Ile261Leu) c.1075A>C (p.Ile359Leu) | |
7 | g.50470081T= | CA1706619833 | DDC,FIGNL1 | c.1132A= (p.Ile378=) c.898A= (p.Ile300=) c.774A= c.853A= (p.Ile285=) c.*233A= (n.*233A=) n.288A= c.-10-22784A= (n.-10-22784A=) c.988A= (p.Ile330=) c.1018A= (p.Ile340=) c.781A= (p.Ile261=) c.1075A= (p.Ile359=) | |
7 | g.50470082A>C | CA367533077 | DDC,FIGNL1 | c.1131T>G (p.Tyr377Ter) c.897T>G (p.Tyr299Ter) c.773T>G c.852T>G (p.Tyr284Ter) c.*232T>G (n.*232T>G) n.287T>G c.-10-22785T>G (n.-10-22785T>G) c.987T>G (p.Tyr329Ter) c.1017T>G (p.Tyr339Ter) c.780T>G (p.Tyr260Ter) c.1074T>G (p.Tyr358Ter) | |
7 | g.50470082A>G | CA454931737 | DDC,FIGNL1 | c.1131T>C (p.Tyr377=) c.897T>C (p.Tyr299=) c.773T>C c.852T>C (p.Tyr284=) c.*232T>C (n.*232T>C) n.287T>C c.-10-22785T>C (n.-10-22785T>C) c.987T>C (p.Tyr329=) c.1017T>C (p.Tyr339=) c.780T>C (p.Tyr260=) c.1074T>C (p.Tyr358=) | |
7 | g.50470082A>T | CA367533079 | DDC,FIGNL1 | c.1131T>A (p.Tyr377Ter) c.897T>A (p.Tyr299Ter) c.773T>A c.852T>A (p.Tyr284Ter) c.*232T>A (n.*232T>A) n.287T>A c.-10-22785T>A (n.-10-22785T>A) c.987T>A (p.Tyr329Ter) c.1017T>A (p.Tyr339Ter) c.780T>A (p.Tyr260Ter) c.1074T>A (p.Tyr358Ter) | |
7 | g.50470083T>A | CA367533081 | DDC,FIGNL1 | c.1130A>T (p.Tyr377Phe) c.896A>T (p.Tyr299Phe) c.772A>T c.851A>T (p.Tyr284Phe) c.*231A>T (n.*231A>T) n.286A>T c.-10-22786A>T (n.-10-22786A>T) c.986A>T (p.Tyr329Phe) c.1016A>T (p.Tyr339Phe) c.779A>T (p.Tyr260Phe) c.1073A>T (p.Tyr358Phe) | |
7 | g.50470083T>C | CA367533084 | DDC,FIGNL1 | c.1130A>G (p.Tyr377Cys) c.896A>G (p.Tyr299Cys) c.772A>G c.851A>G (p.Tyr284Cys) c.*231A>G (n.*231A>G) n.286A>G c.-10-22786A>G (n.-10-22786A>G) c.986A>G (p.Tyr329Cys) c.1016A>G (p.Tyr339Cys) c.779A>G (p.Tyr260Cys) c.1073A>G (p.Tyr358Cys) | gnomAD v4 |
7 | g.50470083T>G | CA367533086 | DDC,FIGNL1 | c.1130A>C (p.Tyr377Ser) c.896A>C (p.Tyr299Ser) c.772A>C c.851A>C (p.Tyr284Ser) c.*231A>C (n.*231A>C) n.286A>C c.-10-22786A>C (n.-10-22786A>C) c.986A>C (p.Tyr329Ser) c.1016A>C (p.Tyr339Ser) c.779A>C (p.Tyr260Ser) c.1073A>C (p.Tyr358Ser) | |
7 | g.50470084A>C | CA367533092 | DDC,FIGNL1 | c.1129T>G (p.Tyr377Asp) c.895T>G (p.Tyr299Asp) c.771T>G c.850T>G (p.Tyr284Asp) c.*230T>G (n.*230T>G) n.285T>G c.-10-22787T>G (n.-10-22787T>G) c.985T>G (p.Tyr329Asp) c.1015T>G (p.Tyr339Asp) c.778T>G (p.Tyr260Asp) c.1072T>G (p.Tyr358Asp) | gnomAD v4 |
7 | g.50470084A>G | CA367533095 | DDC,FIGNL1 | c.1129T>C (p.Tyr377His) c.895T>C (p.Tyr299His) c.771T>C c.850T>C (p.Tyr284His) c.*230T>C (n.*230T>C) n.285T>C c.-10-22787T>C (n.-10-22787T>C) c.985T>C (p.Tyr329His) c.1015T>C (p.Tyr339His) c.778T>C (p.Tyr260His) c.1072T>C (p.Tyr358His) | |
7 | g.50470084A>T | CA367533108 | DDC,FIGNL1 | c.1129T>A (p.Tyr377Asn) c.895T>A (p.Tyr299Asn) c.771T>A c.850T>A (p.Tyr284Asn) c.*230T>A (n.*230T>A) n.285T>A c.-10-22787T>A (n.-10-22787T>A) c.985T>A (p.Tyr329Asn) c.1015T>A (p.Tyr339Asn) c.778T>A (p.Tyr260Asn) c.1072T>A (p.Tyr358Asn) | |
7 | g.50470085A= | CA1706619834 | DDC,FIGNL1 | c.1128T= (p.Ala376=) c.894T= (p.Ala298=) c.770T= c.849T= (p.Ala283=) c.*229T= (n.*229T=) n.284T= c.-10-22788T= (n.-10-22788T=) c.984T= (p.Ala328=) c.1014T= (p.Ala338=) c.777T= (p.Ala259=) c.1071T= (p.Ala357=) | |
7 | g.50470085A>C | CA454931738 | DDC,FIGNL1 | c.1128T>G (p.Ala376=) c.894T>G (p.Ala298=) c.770T>G c.849T>G (p.Ala283=) c.*229T>G (n.*229T>G) n.284T>G c.-10-22788T>G (n.-10-22788T>G) c.984T>G (p.Ala328=) c.1014T>G (p.Ala338=) c.777T>G (p.Ala259=) c.1071T>G (p.Ala357=) | dbSNP |
7 | g.50470085A>G | CA454931739 | DDC,FIGNL1 | c.1128T>C (p.Ala376=) c.894T>C (p.Ala298=) c.770T>C c.849T>C (p.Ala283=) c.*229T>C (n.*229T>C) n.284T>C c.-10-22788T>C (n.-10-22788T>C) c.984T>C (p.Ala328=) c.1014T>C (p.Ala338=) c.777T>C (p.Ala259=) c.1071T>C (p.Ala357=) | |
7 | g.50470085A>T | CA454931740 | DDC,FIGNL1 | c.1128T>A (p.Ala376=) c.894T>A (p.Ala298=) c.770T>A c.849T>A (p.Ala283=) c.*229T>A (n.*229T>A) n.284T>A c.-10-22788T>A (n.-10-22788T>A) c.984T>A (p.Ala328=) c.1014T>A (p.Ala338=) c.777T>A (p.Ala259=) c.1071T>A (p.Ala357=) | |
7 | g.50470086G>A | CA367533109 | DDC,FIGNL1 | c.1127C>T (p.Ala376Val) c.893C>T (p.Ala298Val) c.769C>T c.848C>T (p.Ala283Val) c.*228C>T (n.*228C>T) n.283C>T c.-10-22789C>T (n.-10-22789C>T) c.983C>T (p.Ala328Val) c.1013C>T (p.Ala338Val) c.776C>T (p.Ala259Val) c.1070C>T (p.Ala357Val) | |
7 | g.50470086G>C | CA367533110 | DDC,FIGNL1 | c.1127C>G (p.Ala376Gly) c.893C>G (p.Ala298Gly) c.769C>G c.848C>G (p.Ala283Gly) c.*228C>G (n.*228C>G) n.283C>G c.-10-22789C>G (n.-10-22789C>G) c.983C>G (p.Ala328Gly) c.1013C>G (p.Ala338Gly) c.776C>G (p.Ala259Gly) c.1070C>G (p.Ala357Gly) | |
7 | g.50470086G>T | CA367533111 | DDC,FIGNL1 | c.1127C>A (p.Ala376Asp) c.893C>A (p.Ala298Asp) c.769C>A c.848C>A (p.Ala283Asp) c.*228C>A (n.*228C>A) n.283C>A c.-10-22789C>A (n.-10-22789C>A) c.983C>A (p.Ala328Asp) c.1013C>A (p.Ala338Asp) c.776C>A (p.Ala259Asp) c.1070C>A (p.Ala357Asp) | gnomAD v4 |
7 | g.50470087C>A | CA367533117 | DDC,FIGNL1 | c.1126G>T (p.Ala376Ser) c.892G>T (p.Ala298Ser) c.768G>T c.847G>T (p.Ala283Ser) c.*227G>T (n.*227G>T) n.282G>T c.-10-22790G>T (n.-10-22790G>T) c.982G>T (p.Ala328Ser) c.1012G>T (p.Ala338Ser) c.775G>T (p.Ala259Ser) c.1069G>T (p.Ala357Ser) | |
7 | g.50470087C>G | CA367533119 | DDC,FIGNL1 | c.1126G>C (p.Ala376Pro) c.892G>C (p.Ala298Pro) c.768G>C c.847G>C (p.Ala283Pro) c.*227G>C (n.*227G>C) n.282G>C c.-10-22790G>C (n.-10-22790G>C) c.982G>C (p.Ala328Pro) c.1012G>C (p.Ala338Pro) c.775G>C (p.Ala259Pro) c.1069G>C (p.Ala357Pro) | |
7 | g.50470087C>T | CA367533115 | DDC,FIGNL1 | c.1126G>A (p.Ala376Thr) c.892G>A (p.Ala298Thr) c.768G>A c.847G>A (p.Ala283Thr) c.*227G>A (n.*227G>A) n.282G>A c.-10-22790G>A (n.-10-22790G>A) c.982G>A (p.Ala328Thr) c.1012G>A (p.Ala338Thr) c.775G>A (p.Ala259Thr) c.1069G>A (p.Ala357Thr) | |
7 | g.50470088C>A | CA367533121 | DDC,FIGNL1 | c.1125G>T (p.Gln375His) c.891G>T (p.Gln297His) c.767G>T c.846G>T (p.Gln282His) c.*226G>T (n.*226G>T) n.281G>T c.-10-22791G>T (n.-10-22791G>T) c.981G>T (p.Gln327His) c.1011G>T (p.Gln337His) c.774G>T (p.Gln258His) c.1068G>T (p.Gln356His) | |
7 | g.50470088C>G | CA367533129 | DDC,FIGNL1 | c.1125G>C (p.Gln375His) c.891G>C (p.Gln297His) c.767G>C c.846G>C (p.Gln282His) c.*226G>C (n.*226G>C) n.281G>C c.-10-22791G>C (n.-10-22791G>C) c.981G>C (p.Gln327His) c.1011G>C (p.Gln337His) c.774G>C (p.Gln258His) c.1068G>C (p.Gln356His) | |
7 | g.50470088C>T | CA454931741 | DDC,FIGNL1 | c.1125G>A (p.Gln375=) c.891G>A (p.Gln297=) c.767G>A c.846G>A (p.Gln282=) c.*226G>A (n.*226G>A) n.281G>A c.-10-22791G>A (n.-10-22791G>A) c.981G>A (p.Gln327=) c.1011G>A (p.Gln337=) c.774G>A (p.Gln258=) c.1068G>A (p.Gln356=) | |
7 | g.50470089T>A | CA367533133 | DDC,FIGNL1 | c.1124A>T (p.Gln375Leu) c.890A>T (p.Gln297Leu) c.766A>T c.845A>T (p.Gln282Leu) c.*225A>T (n.*225A>T) n.280A>T c.-10-22792A>T (n.-10-22792A>T) c.980A>T (p.Gln327Leu) c.1010A>T (p.Gln337Leu) c.773A>T (p.Gln258Leu) c.1067A>T (p.Gln356Leu) | |
7 | g.50470089T>C | CA367533140 | DDC,FIGNL1 | c.1124A>G (p.Gln375Arg) c.890A>G (p.Gln297Arg) c.766A>G c.845A>G (p.Gln282Arg) c.*225A>G (n.*225A>G) n.280A>G c.-10-22792A>G (n.-10-22792A>G) c.980A>G (p.Gln327Arg) c.1010A>G (p.Gln337Arg) c.773A>G (p.Gln258Arg) c.1067A>G (p.Gln356Arg) | gnomAD v4 |
7 | g.50470089T>G | CA367533147 | DDC,FIGNL1 | c.1124A>C (p.Gln375Pro) c.890A>C (p.Gln297Pro) c.766A>C c.845A>C (p.Gln282Pro) c.*225A>C (n.*225A>C) n.280A>C c.-10-22792A>C (n.-10-22792A>C) c.980A>C (p.Gln327Pro) c.1010A>C (p.Gln337Pro) c.773A>C (p.Gln258Pro) c.1067A>C (p.Gln356Pro) | |
7 | g.50470090G>A | CA4262066 | DDC,FIGNL1 | c.1123C>T (p.Gln375Ter) c.889C>T (p.Gln297Ter) c.765C>T c.844C>T (p.Gln282Ter) c.*224C>T (n.*224C>T) n.279C>T c.-10-22793C>T (n.-10-22793C>T) c.979C>T (p.Gln327Ter) c.1009C>T (p.Gln337Ter) c.772C>T (p.Gln258Ter) c.1066C>T (p.Gln356Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.50470090G>C | CA367533153 | DDC,FIGNL1 | c.1123C>G (p.Gln375Glu) c.889C>G (p.Gln297Glu) c.765C>G c.844C>G (p.Gln282Glu) c.*224C>G (n.*224C>G) n.279C>G c.-10-22793C>G (n.-10-22793C>G) c.979C>G (p.Gln327Glu) c.1009C>G (p.Gln337Glu) c.772C>G (p.Gln258Glu) c.1066C>G (p.Gln356Glu) | |
7 | g.50470090G= | CA1706619835 | DDC,FIGNL1 | c.1123C= (p.Gln375=) c.889C= (p.Gln297=) c.765C= c.844C= (p.Gln282=) c.*224C= (n.*224C=) n.279C= c.-10-22793C= (n.-10-22793C=) c.979C= (p.Gln327=) c.1009C= (p.Gln337=) c.772C= (p.Gln258=) c.1066C= (p.Gln356=) | |
7 | g.50470090G>T | CA367533154 | DDC,FIGNL1 | c.1123C>A (p.Gln375Lys) c.889C>A (p.Gln297Lys) c.765C>A c.844C>A (p.Gln282Lys) c.*224C>A (n.*224C>A) n.279C>A c.-10-22793C>A (n.-10-22793C>A) c.979C>A (p.Gln327Lys) c.1009C>A (p.Gln337Lys) c.772C>A (p.Gln258Lys) c.1066C>A (p.Gln356Lys) | |
7 | g.50470091C>A | CA454931742 | DDC,FIGNL1 | c.1122G>T (p.Leu374=) c.888G>T (p.Leu296=) c.764G>T c.843G>T (p.Leu281=) c.*223G>T (n.*223G>T) n.278G>T c.-10-22794G>T (n.-10-22794G>T) c.978G>T (p.Leu326=) c.1008G>T (p.Leu336=) c.771G>T (p.Leu257=) c.1065G>T (p.Leu355=) | |
7 | g.50470091C= | CA1706619836 | DDC,FIGNL1 | c.1122G= (p.Leu374=) c.888G= (p.Leu296=) c.764G= c.843G= (p.Leu281=) c.*223G= (n.*223G=) n.278G= c.-10-22794G= (n.-10-22794G=) c.978G= (p.Leu326=) c.1008G= (p.Leu336=) c.771G= (p.Leu257=) c.1065G= (p.Leu355=) | |
7 | g.50470091C>G | CA158224340 | DDC,FIGNL1 | c.1122G>C (p.Leu374=) c.888G>C (p.Leu296=) c.764G>C c.843G>C (p.Leu281=) c.*223G>C (n.*223G>C) n.278G>C c.-10-22794G>C (n.-10-22794G>C) c.978G>C (p.Leu326=) c.1008G>C (p.Leu336=) c.771G>C (p.Leu257=) c.1065G>C (p.Leu355=) | dbSNP |
7 | g.50470091C>T | CA454931743 | DDC,FIGNL1 | c.1122G>A (p.Leu374=) c.888G>A (p.Leu296=) c.764G>A c.843G>A (p.Leu281=) c.*223G>A (n.*223G>A) n.278G>A c.-10-22794G>A (n.-10-22794G>A) c.978G>A (p.Leu326=) c.1008G>A (p.Leu336=) c.771G>A (p.Leu257=) c.1065G>A (p.Leu355=) | gnomAD v4 |
7 | g.50470092A>C | CA367533155 | DDC,FIGNL1 | c.1121T>G (p.Leu374Arg) c.887T>G (p.Leu296Arg) c.763T>G c.842T>G (p.Leu281Arg) c.*222T>G (n.*222T>G) n.277T>G c.-10-22795T>G (n.-10-22795T>G) c.977T>G (p.Leu326Arg) c.1007T>G (p.Leu336Arg) c.770T>G (p.Leu257Arg) c.1064T>G (p.Leu355Arg) | |
7 | g.50470092A>G | CA367533156 | DDC,FIGNL1 | c.1121T>C (p.Leu374Pro) c.887T>C (p.Leu296Pro) c.763T>C c.842T>C (p.Leu281Pro) c.*222T>C (n.*222T>C) n.277T>C c.-10-22795T>C (n.-10-22795T>C) c.977T>C (p.Leu326Pro) c.1007T>C (p.Leu336Pro) c.770T>C (p.Leu257Pro) c.1064T>C (p.Leu355Pro) | |
7 | g.50470092A>T | CA367533157 | DDC,FIGNL1 | c.1121T>A (p.Leu374Gln) c.887T>A (p.Leu296Gln) c.763T>A c.842T>A (p.Leu281Gln) c.*222T>A (n.*222T>A) n.277T>A c.-10-22795T>A (n.-10-22795T>A) c.977T>A (p.Leu326Gln) c.1007T>A (p.Leu336Gln) c.770T>A (p.Leu257Gln) c.1064T>A (p.Leu355Gln) | |
7 | g.50470092_50470093delinsAG | CA1706619837 | DDC,FIGNL1 | c.1120_1121delinsCT (p.Leu374=) c.886_887delinsCT (p.Leu296=) c.762_763delinsCT c.841_842delinsCT (p.Leu281=) c.*221_*222delinsCT (n.*221_*222delinsCT) n.276_277delinsCT c.-10-22796_-10-22795delinsCT (n.-10-22796_-10-22795delinsCT) c.976_977delinsCT (p.Leu326=) c.1006_1007delinsCT (p.Leu336=) c.769_770delinsCT (p.Leu257=) c.1063_1064delinsCT (p.Leu355=) | |
7 | g.50470093del | CA574298294 | DDC,FIGNL1 | c.1120del (p.Leu374CysfsTer?) c.886del (p.Leu296CysfsTer?) c.762del c.841del (p.Leu281CysfsTer?) c.*221del (n.*221del) n.276del c.-10-22796del (n.-10-22796del) c.976del (p.Leu326CysfsTer?) c.1006del (p.Leu336CysfsTer?) c.769del (p.Leu257CysfsTer?) c.1063del (p.Leu355CysfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50470093G>A | CA454931744 | DDC,FIGNL1 | c.1120C>T (p.Leu374=) c.886C>T (p.Leu296=) c.762C>T c.841C>T (p.Leu281=) c.*221C>T (n.*221C>T) n.276C>T c.-10-22796C>T (n.-10-22796C>T) c.976C>T (p.Leu326=) c.1006C>T (p.Leu336=) c.769C>T (p.Leu257=) c.1063C>T (p.Leu355=) | |
7 | g.50470093G>C | CA367533158 | DDC,FIGNL1 | c.1120C>G (p.Leu374Val) c.886C>G (p.Leu296Val) c.762C>G c.841C>G (p.Leu281Val) c.*221C>G (n.*221C>G) n.276C>G c.-10-22796C>G (n.-10-22796C>G) c.976C>G (p.Leu326Val) c.1006C>G (p.Leu336Val) c.769C>G (p.Leu257Val) c.1063C>G (p.Leu355Val) | |
7 | g.50470093G>T | CA367533159 | DDC,FIGNL1 | c.1120C>A (p.Leu374Met) c.886C>A (p.Leu296Met) c.762C>A c.841C>A (p.Leu281Met) c.*221C>A (n.*221C>A) n.276C>A c.-10-22796C>A (n.-10-22796C>A) c.976C>A (p.Leu326Met) c.1006C>A (p.Leu336Met) c.769C>A (p.Leu257Met) c.1063C>A (p.Leu355Met) | gnomAD v4 |
7 | g.50470094T>A | CA454931745 | DDC,FIGNL1 | c.1119A>T (p.Gly373=) c.885A>T (p.Gly295=) c.761A>T c.840A>T (p.Gly280=) c.*220A>T (n.*220A>T) n.275A>T c.-10-22797A>T (n.-10-22797A>T) c.975A>T (p.Gly325=) c.1005A>T (p.Gly335=) c.768A>T (p.Gly256=) c.1062A>T (p.Gly354=) | |
7 | g.50470094T>C | CA454931746 | DDC,FIGNL1 | c.1119A>G (p.Gly373=) c.885A>G (p.Gly295=) c.761A>G c.840A>G (p.Gly280=) c.*220A>G (n.*220A>G) n.275A>G c.-10-22797A>G (n.-10-22797A>G) c.975A>G (p.Gly325=) c.1005A>G (p.Gly335=) c.768A>G (p.Gly256=) c.1062A>G (p.Gly354=) | |
7 | g.50470094T>G | CA454931747 | DDC,FIGNL1 | c.1119A>C (p.Gly373=) c.885A>C (p.Gly295=) c.761A>C c.840A>C (p.Gly280=) c.*220A>C (n.*220A>C) n.275A>C c.-10-22797A>C (n.-10-22797A>C) c.975A>C (p.Gly325=) c.1005A>C (p.Gly335=) c.768A>C (p.Gly256=) c.1062A>C (p.Gly354=) | |
7 | g.50470095C>A | CA367533167 | DDC,FIGNL1 | c.1118G>T (p.Gly373Val) c.884G>T (p.Gly295Val) c.760G>T c.839G>T (p.Gly280Val) c.*219G>T (n.*219G>T) n.274G>T c.-10-22798G>T (n.-10-22798G>T) c.974G>T (p.Gly325Val) c.1004G>T (p.Gly335Val) c.767G>T (p.Gly256Val) c.1061G>T (p.Gly354Val) | |
7 | g.50470095C>G | CA367533165 | DDC,FIGNL1 | c.1118G>C (p.Gly373Ala) c.884G>C (p.Gly295Ala) c.760G>C c.839G>C (p.Gly280Ala) c.*219G>C (n.*219G>C) n.274G>C c.-10-22798G>C (n.-10-22798G>C) c.974G>C (p.Gly325Ala) c.1004G>C (p.Gly335Ala) c.767G>C (p.Gly256Ala) c.1061G>C (p.Gly354Ala) | |
7 | g.50470095C>T | CA367533163 | DDC,FIGNL1 | c.1118G>A (p.Gly373Glu) c.884G>A (p.Gly295Glu) c.760G>A c.839G>A (p.Gly280Glu) c.*219G>A (n.*219G>A) n.274G>A c.-10-22798G>A (n.-10-22798G>A) c.974G>A (p.Gly325Glu) c.1004G>A (p.Gly335Glu) c.767G>A (p.Gly256Glu) c.1061G>A (p.Gly354Glu) | COSMIC |
7 | g.50470096C>A | CA367533172 | DDC,FIGNL1 | c.1117G>T (p.Gly373Ter) c.883G>T (p.Gly295Ter) c.759G>T c.838G>T (p.Gly280Ter) c.*218G>T (n.*218G>T) n.273G>T c.-10-22799G>T (n.-10-22799G>T) c.973G>T (p.Gly325Ter) c.1003G>T (p.Gly335Ter) c.766G>T (p.Gly256Ter) c.1060G>T (p.Gly354Ter) | COSMIC |
7 | g.50470096C= | CA1706619838 | DDC,FIGNL1 | c.1117G= (p.Gly373=) c.883G= (p.Gly295=) c.759G= c.838G= (p.Gly280=) c.*218G= (n.*218G=) n.273G= c.-10-22799G= (n.-10-22799G=) c.973G= (p.Gly325=) c.1003G= (p.Gly335=) c.766G= (p.Gly256=) c.1060G= (p.Gly354=) | |
7 | g.50470096C>G | CA367533173 | DDC,FIGNL1 | c.1117G>C (p.Gly373Arg) c.883G>C (p.Gly295Arg) c.759G>C c.838G>C (p.Gly280Arg) c.*218G>C (n.*218G>C) n.273G>C c.-10-22799G>C (n.-10-22799G>C) c.973G>C (p.Gly325Arg) c.1003G>C (p.Gly335Arg) c.766G>C (p.Gly256Arg) c.1060G>C (p.Gly354Arg) | |
7 | g.50470096C>T | CA367533175 | DDC,FIGNL1 | c.1117G>A (p.Gly373Arg) c.883G>A (p.Gly295Arg) c.759G>A c.838G>A (p.Gly280Arg) c.*218G>A (n.*218G>A) n.273G>A c.-10-22799G>A (n.-10-22799G>A) c.973G>A (p.Gly325Arg) c.1003G>A (p.Gly335Arg) c.766G>A (p.Gly256Arg) c.1060G>A (p.Gly354Arg) | dbSNP |
7 | g.50470097T>A | CA367533179 | DDC,FIGNL1 | c.1116A>T (p.Lys372Asn) c.882A>T (p.Lys294Asn) c.758A>T c.837A>T (p.Lys279Asn) c.*217A>T (n.*217A>T) n.272A>T c.-10-22800A>T (n.-10-22800A>T) c.972A>T (p.Lys324Asn) c.1002A>T (p.Lys334Asn) c.765A>T (p.Lys255Asn) c.1059A>T (p.Lys353Asn) | |
7 | g.50470097T>C | CA454931748 | DDC,FIGNL1 | c.1116A>G (p.Lys372=) c.882A>G (p.Lys294=) c.758A>G c.837A>G (p.Lys279=) c.*217A>G (n.*217A>G) n.272A>G c.-10-22800A>G (n.-10-22800A>G) c.972A>G (p.Lys324=) c.1002A>G (p.Lys334=) c.765A>G (p.Lys255=) c.1059A>G (p.Lys353=) | |
7 | g.50470097T>G | CA367533184 | DDC,FIGNL1 | c.1116A>C (p.Lys372Asn) c.882A>C (p.Lys294Asn) c.758A>C c.837A>C (p.Lys279Asn) c.*217A>C (n.*217A>C) n.272A>C c.-10-22800A>C (n.-10-22800A>C) c.972A>C (p.Lys324Asn) c.1002A>C (p.Lys334Asn) c.765A>C (p.Lys255Asn) c.1059A>C (p.Lys353Asn) | |
7 | g.50470097T= | CA1706619839 | DDC,FIGNL1 | c.1116A= (p.Lys372=) c.882A= (p.Lys294=) c.758A= c.837A= (p.Lys279=) c.*217A= (n.*217A=) n.272A= c.-10-22800A= (n.-10-22800A=) c.972A= (p.Lys324=) c.1002A= (p.Lys334=) c.765A= (p.Lys255=) c.1059A= (p.Lys353=) | |
7 | g.50470098T>A | CA367533191 | DDC,FIGNL1 | c.1115A>T (p.Lys372Ile) c.881A>T (p.Lys294Ile) c.757A>T c.836A>T (p.Lys279Ile) c.*216A>T (n.*216A>T) n.271A>T c.-10-22801A>T (n.-10-22801A>T) c.971A>T (p.Lys324Ile) c.1001A>T (p.Lys334Ile) c.764A>T (p.Lys255Ile) c.1058A>T (p.Lys353Ile) | |
7 | g.50470098T>C | CA367533192 | DDC,FIGNL1 | c.1115A>G (p.Lys372Arg) c.881A>G (p.Lys294Arg) c.757A>G c.836A>G (p.Lys279Arg) c.*216A>G (n.*216A>G) n.271A>G c.-10-22801A>G (n.-10-22801A>G) c.971A>G (p.Lys324Arg) c.1001A>G (p.Lys334Arg) c.764A>G (p.Lys255Arg) c.1058A>G (p.Lys353Arg) | |
7 | g.50470098T>G | CA367533193 | DDC,FIGNL1 | c.1115A>C (p.Lys372Thr) c.881A>C (p.Lys294Thr) c.757A>C c.836A>C (p.Lys279Thr) c.*216A>C (n.*216A>C) n.271A>C c.-10-22801A>C (n.-10-22801A>C) c.971A>C (p.Lys324Thr) c.1001A>C (p.Lys334Thr) c.764A>C (p.Lys255Thr) c.1058A>C (p.Lys353Thr) | |
7 | g.50470098_50470099insATATGTAT | CA574298295 | DDC,FIGNL1 | c.1115_1116insTACATATA (p.Lys372AsnfsTer?) c.881_882insTACATATA (p.Lys294AsnfsTer?) c.757_758insTACATATA c.836_837insTACATATA (p.Lys279AsnfsTer?) c.*216_*217insTACATATA (n.*216_*217insTACATATA) n.271_272insTACATATA c.-10-22801_-10-22800insTACATATA (n.-10-22801_-10-22800insTACATATA) c.971_972insTACATATA (p.Lys324AsnfsTer?) c.1001_1002insTACATATA (p.Lys334AsnfsTer?) c.764_765insTACATATA (p.Lys255AsnfsTer?) c.1058_1059insTACATATA (p.Lys353AsnfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50470099T>A | CA367533197 | DDC,FIGNL1 | c.1114A>T (p.Lys372Ter) c.880A>T (p.Lys294Ter) c.756A>T c.835A>T (p.Lys279Ter) c.*215A>T (n.*215A>T) n.270A>T c.-10-22802A>T (n.-10-22802A>T) c.970A>T (p.Lys324Ter) c.1000A>T (p.Lys334Ter) c.763A>T (p.Lys255Ter) c.1057A>T (p.Lys353Ter) | |
7 | g.50470099T>C | CA367533209 | DDC,FIGNL1 | c.1114A>G (p.Lys372Glu) c.880A>G (p.Lys294Glu) c.756A>G c.835A>G (p.Lys279Glu) c.*215A>G (n.*215A>G) n.270A>G c.-10-22802A>G (n.-10-22802A>G) c.970A>G (p.Lys324Glu) c.1000A>G (p.Lys334Glu) c.763A>G (p.Lys255Glu) c.1057A>G (p.Lys353Glu) | |
7 | g.50470099T>G | CA367533210 | DDC,FIGNL1 | c.1114A>C (p.Lys372Gln) c.880A>C (p.Lys294Gln) c.756A>C c.835A>C (p.Lys279Gln) c.*215A>C (n.*215A>C) n.270A>C c.-10-22802A>C (n.-10-22802A>C) c.970A>C (p.Lys324Gln) c.1000A>C (p.Lys334Gln) c.763A>C (p.Lys255Gln) c.1057A>C (p.Lys353Gln) | gnomAD v4 |
7 | g.50470100G>A | CA454931749 | DDC,FIGNL1 | c.1113C>T (p.Val371=) c.879C>T (p.Val293=) c.755C>T c.834C>T (p.Val278=) c.*214C>T (n.*214C>T) n.269C>T c.-10-22803C>T (n.-10-22803C>T) c.969C>T (p.Val323=) c.999C>T (p.Val333=) c.762C>T (p.Val254=) c.1056C>T (p.Val352=) | |
7 | g.50470100G>C | CA454931750 | DDC,FIGNL1 | c.1113C>G (p.Val371=) c.879C>G (p.Val293=) c.755C>G c.834C>G (p.Val278=) c.*214C>G (n.*214C>G) n.269C>G c.-10-22803C>G (n.-10-22803C>G) c.969C>G (p.Val323=) c.999C>G (p.Val333=) c.762C>G (p.Val254=) c.1056C>G (p.Val352=) | COSMIC |
7 | g.50470100G>T | CA454931751 | DDC,FIGNL1 | c.1113C>A (p.Val371=) c.879C>A (p.Val293=) c.755C>A c.834C>A (p.Val278=) c.*214C>A (n.*214C>A) n.269C>A c.-10-22803C>A (n.-10-22803C>A) c.969C>A (p.Val323=) c.999C>A (p.Val333=) c.762C>A (p.Val254=) c.1056C>A (p.Val352=) | |
7 | g.50470101A>C | CA367533213 | DDC,FIGNL1 | c.1112T>G (p.Val371Gly) c.878T>G (p.Val293Gly) c.754T>G c.833T>G (p.Val278Gly) c.*213T>G (n.*213T>G) n.268T>G c.-10-22804T>G (n.-10-22804T>G) c.968T>G (p.Val323Gly) c.998T>G (p.Val333Gly) c.761T>G (p.Val254Gly) c.1055T>G (p.Val352Gly) | |
7 | g.50470101A>G | CA367533214 | DDC,FIGNL1 | c.1112T>C (p.Val371Ala) c.878T>C (p.Val293Ala) c.754T>C c.833T>C (p.Val278Ala) c.*213T>C (n.*213T>C) n.268T>C c.-10-22804T>C (n.-10-22804T>C) c.968T>C (p.Val323Ala) c.998T>C (p.Val333Ala) c.761T>C (p.Val254Ala) c.1055T>C (p.Val352Ala) | |
7 | g.50470101A>T | CA367533215 | DDC,FIGNL1 | c.1112T>A (p.Val371Asp) c.878T>A (p.Val293Asp) c.754T>A c.833T>A (p.Val278Asp) c.*213T>A (n.*213T>A) n.268T>A c.-10-22804T>A (n.-10-22804T>A) c.968T>A (p.Val323Asp) c.998T>A (p.Val333Asp) c.761T>A (p.Val254Asp) c.1055T>A (p.Val352Asp) | |
7 | g.50470102C>A | CA367533218 | DDC,FIGNL1 | c.1111G>T (p.Val371Phe) c.877G>T (p.Val293Phe) c.753G>T c.832G>T (p.Val278Phe) c.*212G>T (n.*212G>T) n.267G>T c.-10-22805G>T (n.-10-22805G>T) c.967G>T (p.Val323Phe) c.997G>T (p.Val333Phe) c.760G>T (p.Val254Phe) c.1054G>T (p.Val352Phe) | |
7 | g.50470102C>G | CA367533221 | DDC,FIGNL1 | c.1111G>C (p.Val371Leu) c.877G>C (p.Val293Leu) c.753G>C c.832G>C (p.Val278Leu) c.*212G>C (n.*212G>C) n.267G>C c.-10-22805G>C (n.-10-22805G>C) c.967G>C (p.Val323Leu) c.997G>C (p.Val333Leu) c.760G>C (p.Val254Leu) c.1054G>C (p.Val352Leu) | |
7 | g.50470102C>T | CA367533216 | DDC,FIGNL1 | c.1111G>A (p.Val371Ile) c.877G>A (p.Val293Ile) c.753G>A c.832G>A (p.Val278Ile) c.*212G>A (n.*212G>A) n.267G>A c.-10-22805G>A (n.-10-22805G>A) c.967G>A (p.Val323Ile) c.997G>A (p.Val333Ile) c.760G>A (p.Val254Ile) c.1054G>A (p.Val352Ile) | |
7 | g.50470103T>A | CA454931752 | DDC,FIGNL1 | c.1110A>T (p.Gly370=) c.876A>T (p.Gly292=) c.752A>T c.831A>T (p.Gly277=) c.*211A>T (n.*211A>T) n.266A>T c.-10-22806A>T (n.-10-22806A>T) c.966A>T (p.Gly322=) c.996A>T (p.Gly332=) c.759A>T (p.Gly253=) c.1053A>T (p.Gly351=) | |
7 | g.50470103T>C | CA454931754 | DDC,FIGNL1 | c.1110A>G (p.Gly370=) c.876A>G (p.Gly292=) c.752A>G c.831A>G (p.Gly277=) c.*211A>G (n.*211A>G) n.266A>G c.-10-22806A>G (n.-10-22806A>G) c.966A>G (p.Gly322=) c.996A>G (p.Gly332=) c.759A>G (p.Gly253=) c.1053A>G (p.Gly351=) | |
7 | g.50470103T>G | CA454931753 | DDC,FIGNL1 | c.1110A>C (p.Gly370=) c.876A>C (p.Gly292=) c.752A>C c.831A>C (p.Gly277=) c.*211A>C (n.*211A>C) n.266A>C c.-10-22806A>C (n.-10-22806A>C) c.966A>C (p.Gly322=) c.996A>C (p.Gly332=) c.759A>C (p.Gly253=) c.1053A>C (p.Gly351=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.50470103T= | CA1706619840 | DDC,FIGNL1 | c.1110A= (p.Gly370=) c.876A= (p.Gly292=) c.752A= c.831A= (p.Gly277=) c.*211A= (n.*211A=) n.266A= c.-10-22806A= (n.-10-22806A=) c.966A= (p.Gly322=) c.996A= (p.Gly332=) c.759A= (p.Gly253=) c.1053A= (p.Gly351=) | |
7 | g.50470104C>A | CA367533226 | DDC,FIGNL1 | c.1109G>T (p.Gly370Val) c.875G>T (p.Gly292Val) c.751G>T c.830G>T (p.Gly277Val) c.*210G>T (n.*210G>T) n.265G>T c.-10-22807G>T (n.-10-22807G>T) c.965G>T (p.Gly322Val) c.995G>T (p.Gly332Val) c.758G>T (p.Gly253Val) c.1052G>T (p.Gly351Val) | |
7 | g.50470104C= | CA1706619841 | DDC,FIGNL1 | c.1109G= (p.Gly370=) c.875G= (p.Gly292=) c.751G= c.830G= (p.Gly277=) c.*210G= (n.*210G=) n.265G= c.-10-22807G= (n.-10-22807G=) c.965G= (p.Gly322=) c.995G= (p.Gly332=) c.758G= (p.Gly253=) c.1052G= (p.Gly351=) | |
7 | g.50470104C>G | CA367533229 | DDC,FIGNL1 | c.1109G>C (p.Gly370Ala) c.875G>C (p.Gly292Ala) c.751G>C c.830G>C (p.Gly277Ala) c.*210G>C (n.*210G>C) n.265G>C c.-10-22807G>C (n.-10-22807G>C) c.965G>C (p.Gly322Ala) c.995G>C (p.Gly332Ala) c.758G>C (p.Gly253Ala) c.1052G>C (p.Gly351Ala) | |
7 | g.50470104C>T | CA367533234 | DDC,FIGNL1 | c.1109G>A (p.Gly370Glu) c.875G>A (p.Gly292Glu) c.751G>A c.830G>A (p.Gly277Glu) c.*210G>A (n.*210G>A) n.265G>A c.-10-22807G>A (n.-10-22807G>A) c.965G>A (p.Gly322Glu) c.995G>A (p.Gly332Glu) c.758G>A (p.Gly253Glu) c.1052G>A (p.Gly351Glu) | dbSNP gnomAD v4 |
7 | g.50470105C>A | CA367533236 | DDC,FIGNL1 | c.1108G>T (p.Gly370Ter) c.874G>T (p.Gly292Ter) c.750G>T c.829G>T (p.Gly277Ter) c.*209G>T (n.*209G>T) n.264G>T c.-10-22808G>T (n.-10-22808G>T) c.964G>T (p.Gly322Ter) c.994G>T (p.Gly332Ter) c.757G>T (p.Gly253Ter) c.1051G>T (p.Gly351Ter) | |
7 | g.50470105C>G | CA367533238 | DDC,FIGNL1 | c.1108G>C (p.Gly370Arg) c.874G>C (p.Gly292Arg) c.750G>C c.829G>C (p.Gly277Arg) c.*209G>C (n.*209G>C) n.264G>C c.-10-22808G>C (n.-10-22808G>C) c.964G>C (p.Gly322Arg) c.994G>C (p.Gly332Arg) c.757G>C (p.Gly253Arg) c.1051G>C (p.Gly351Arg) | |
7 | g.50470105C>T | CA367533240 | DDC,FIGNL1 | c.1108G>A (p.Gly370Arg) c.874G>A (p.Gly292Arg) c.750G>A c.829G>A (p.Gly277Arg) c.*209G>A (n.*209G>A) n.264G>A c.-10-22808G>A (n.-10-22808G>A) c.964G>A (p.Gly322Arg) c.994G>A (p.Gly332Arg) c.757G>A (p.Gly253Arg) c.1051G>A (p.Gly351Arg) | COSMIC |
7 | g.50470106A>C | CA367533245 | DDC,FIGNL1 | c.1107T>G (p.Tyr369Ter) c.873T>G (p.Tyr291Ter) c.749T>G c.828T>G (p.Tyr276Ter) c.*208T>G (n.*208T>G) n.263T>G c.-10-22809T>G (n.-10-22809T>G) c.963T>G (p.Tyr321Ter) c.993T>G (p.Tyr331Ter) c.756T>G (p.Tyr252Ter) c.1050T>G (p.Tyr350Ter) | |
7 | g.50470106A>G | CA454931755 | DDC,FIGNL1 | c.1107T>C (p.Tyr369=) c.873T>C (p.Tyr291=) c.749T>C c.828T>C (p.Tyr276=) c.*208T>C (n.*208T>C) n.263T>C c.-10-22809T>C (n.-10-22809T>C) c.963T>C (p.Tyr321=) c.993T>C (p.Tyr331=) c.756T>C (p.Tyr252=) c.1050T>C (p.Tyr350=) | |
7 | g.50470106A>T | CA367533242 | DDC,FIGNL1 | c.1107T>A (p.Tyr369Ter) c.873T>A (p.Tyr291Ter) c.749T>A c.828T>A (p.Tyr276Ter) c.*208T>A (n.*208T>A) n.263T>A c.-10-22809T>A (n.-10-22809T>A) c.963T>A (p.Tyr321Ter) c.993T>A (p.Tyr331Ter) c.756T>A (p.Tyr252Ter) c.1050T>A (p.Tyr350Ter) | ClinVar |
7 | g.50470107T>A | CA367533246 | DDC,FIGNL1 | c.1106A>T (p.Tyr369Phe) c.872A>T (p.Tyr291Phe) c.748A>T c.827A>T (p.Tyr276Phe) c.*207A>T (n.*207A>T) n.262A>T c.-10-22810A>T (n.-10-22810A>T) c.962A>T (p.Tyr321Phe) c.992A>T (p.Tyr331Phe) c.755A>T (p.Tyr252Phe) c.1049A>T (p.Tyr350Phe) | |
7 | g.50470107T>C | CA10629326 | DDC,FIGNL1 | c.1106A>G (p.Tyr369Cys) c.872A>G (p.Tyr291Cys) c.748A>G c.827A>G (p.Tyr276Cys) c.*207A>G (n.*207A>G) n.262A>G c.-10-22810A>G (n.-10-22810A>G) c.962A>G (p.Tyr321Cys) c.992A>G (p.Tyr331Cys) c.755A>G (p.Tyr252Cys) c.1049A>G (p.Tyr350Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.50470107T>G | CA367533247 | DDC,FIGNL1 | c.1106A>C (p.Tyr369Ser) c.872A>C (p.Tyr291Ser) c.748A>C c.827A>C (p.Tyr276Ser) c.*207A>C (n.*207A>C) n.262A>C c.-10-22810A>C (n.-10-22810A>C) c.962A>C (p.Tyr321Ser) c.992A>C (p.Tyr331Ser) c.755A>C (p.Tyr252Ser) c.1049A>C (p.Tyr350Ser) | |
7 | g.50470107T= | CA1706619842 | DDC,FIGNL1 | c.1106A= (p.Tyr369=) c.872A= (p.Tyr291=) c.748A= c.827A= (p.Tyr276=) c.*207A= (n.*207A=) n.262A= c.-10-22810A= (n.-10-22810A=) c.962A= (p.Tyr321=) c.992A= (p.Tyr331=) c.755A= (p.Tyr252=) c.1049A= (p.Tyr350=) | |
7 | g.50470108A>C | CA367533248 | DDC,FIGNL1 | c.1105T>G (p.Tyr369Asp) c.871T>G (p.Tyr291Asp) c.747T>G c.826T>G (p.Tyr276Asp) c.*206T>G (n.*206T>G) n.261T>G c.-10-22811T>G (n.-10-22811T>G) c.961T>G (p.Tyr321Asp) c.991T>G (p.Tyr331Asp) c.754T>G (p.Tyr252Asp) c.1048T>G (p.Tyr350Asp) | |
7 | g.50470108A>G | CA367533249 | DDC,FIGNL1 | c.1105T>C (p.Tyr369His) c.871T>C (p.Tyr291His) c.747T>C c.826T>C (p.Tyr276His) c.*206T>C (n.*206T>C) n.261T>C c.-10-22811T>C (n.-10-22811T>C) c.961T>C (p.Tyr321His) c.991T>C (p.Tyr331His) c.754T>C (p.Tyr252His) c.1048T>C (p.Tyr350His) | |
7 | g.50470108A>T | CA367533251 | DDC,FIGNL1 | c.1105T>A (p.Tyr369Asn) c.871T>A (p.Tyr291Asn) c.747T>A c.826T>A (p.Tyr276Asn) c.*206T>A (n.*206T>A) n.261T>A c.-10-22811T>A (n.-10-22811T>A) c.961T>A (p.Tyr321Asn) c.991T>A (p.Tyr331Asn) c.754T>A (p.Tyr252Asn) c.1048T>A (p.Tyr350Asn) | |
7 | g.50470109C>A | CA367533254 | DDC,FIGNL1 | c.1104G>T (p.Met368Ile) c.870G>T (p.Met290Ile) c.746G>T c.825G>T (p.Met275Ile) c.*205G>T (n.*205G>T) n.260G>T c.-10-22812G>T (n.-10-22812G>T) c.960G>T (p.Met320Ile) c.990G>T (p.Met330Ile) c.753G>T (p.Met251Ile) c.1047G>T (p.Met349Ile) | |
7 | g.50470109C= | CA1706619843 | DDC,FIGNL1 | c.1104G= (p.Met368=) c.870G= (p.Met290=) c.746G= c.825G= (p.Met275=) c.*205G= (n.*205G=) n.260G= c.-10-22812G= (n.-10-22812G=) c.960G= (p.Met320=) c.990G= (p.Met330=) c.753G= (p.Met251=) c.1047G= (p.Met349=) | |
7 | g.50470109C>G | CA367533265 | DDC,FIGNL1 | c.1104G>C (p.Met368Ile) c.870G>C (p.Met290Ile) c.746G>C c.825G>C (p.Met275Ile) c.*205G>C (n.*205G>C) n.260G>C c.-10-22812G>C (n.-10-22812G>C) c.960G>C (p.Met320Ile) c.990G>C (p.Met330Ile) c.753G>C (p.Met251Ile) c.1047G>C (p.Met349Ile) | |
7 | g.50470109C>T | CA367533262 | DDC,FIGNL1 | c.1104G>A (p.Met368Ile) c.870G>A (p.Met290Ile) c.746G>A c.825G>A (p.Met275Ile) c.*205G>A (n.*205G>A) n.260G>A c.-10-22812G>A (n.-10-22812G>A) c.960G>A (p.Met320Ile) c.990G>A (p.Met330Ile) c.753G>A (p.Met251Ile) c.1047G>A (p.Met349Ile) | dbSNP |
7 | g.50470110A= | CA1706619844 | DDC,FIGNL1 | c.1103T= (p.Met368=) c.869T= (p.Met290=) c.745T= c.824T= (p.Met275=) c.*204T= (n.*204T=) n.259T= c.-10-22813T= (n.-10-22813T=) c.959T= (p.Met320=) c.989T= (p.Met330=) c.752T= (p.Met251=) c.1046T= (p.Met349=) | |
7 | g.50470110A>C | CA367533270 | DDC,FIGNL1 | c.1103T>G (p.Met368Arg) c.869T>G (p.Met290Arg) c.745T>G c.824T>G (p.Met275Arg) c.*204T>G (n.*204T>G) n.259T>G c.-10-22813T>G (n.-10-22813T>G) c.959T>G (p.Met320Arg) c.989T>G (p.Met330Arg) c.752T>G (p.Met251Arg) c.1046T>G (p.Met349Arg) | |
7 | g.50470110A>G | CA4262067 | DDC,FIGNL1 | c.1103T>C (p.Met368Thr) c.869T>C (p.Met290Thr) c.745T>C c.824T>C (p.Met275Thr) c.*204T>C (n.*204T>C) n.259T>C c.-10-22813T>C (n.-10-22813T>C) c.959T>C (p.Met320Thr) c.989T>C (p.Met330Thr) c.752T>C (p.Met251Thr) c.1046T>C (p.Met349Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.50470110A>T | CA367533281 | DDC,FIGNL1 | c.1103T>A (p.Met368Lys) c.869T>A (p.Met290Lys) c.745T>A c.824T>A (p.Met275Lys) c.*204T>A (n.*204T>A) n.259T>A c.-10-22813T>A (n.-10-22813T>A) c.959T>A (p.Met320Lys) c.989T>A (p.Met330Lys) c.752T>A (p.Met251Lys) c.1046T>A (p.Met349Lys) | gnomAD v4 |
7 | g.50470111T>A | CA367533282 | DDC,FIGNL1 | c.1102A>T (p.Met368Leu) c.868A>T (p.Met290Leu) c.744A>T c.823A>T (p.Met275Leu) c.*203A>T (n.*203A>T) n.258A>T c.-10-22814A>T (n.-10-22814A>T) c.958A>T (p.Met320Leu) c.988A>T (p.Met330Leu) c.751A>T (p.Met251Leu) c.1045A>T (p.Met349Leu) | gnomAD v4 |
7 | g.50470111T>C | CA367533285 | DDC,FIGNL1 | c.1102A>G (p.Met368Val) c.868A>G (p.Met290Val) c.744A>G c.823A>G (p.Met275Val) c.*203A>G (n.*203A>G) n.258A>G c.-10-22814A>G (n.-10-22814A>G) c.958A>G (p.Met320Val) c.988A>G (p.Met330Val) c.751A>G (p.Met251Val) c.1045A>G (p.Met349Val) | gnomAD v4 |
7 | g.50470111T>G | CA367533286 | DDC,FIGNL1 | c.1102A>C (p.Met368Leu) c.868A>C (p.Met290Leu) c.744A>C c.823A>C (p.Met275Leu) c.*203A>C (n.*203A>C) n.258A>C c.-10-22814A>C (n.-10-22814A>C) c.958A>C (p.Met320Leu) c.988A>C (p.Met330Leu) c.751A>C (p.Met251Leu) c.1045A>C (p.Met349Leu) | |
7 | g.50470112C>A | CA367533289 | DDC,FIGNL1 | c.1101G>T (p.Arg367Ser) c.867G>T (p.Arg289Ser) c.743G>T c.822G>T (p.Arg274Ser) c.*202G>T (n.*202G>T) n.257G>T c.-10-22815G>T (n.-10-22815G>T) c.957G>T (p.Arg319Ser) c.987G>T (p.Arg329Ser) c.750G>T (p.Arg250Ser) c.1044G>T (p.Arg348Ser) | |
7 | g.50470112C>G | CA367533292 | DDC,FIGNL1 | c.1101G>C (p.Arg367Ser) c.867G>C (p.Arg289Ser) c.743G>C c.822G>C (p.Arg274Ser) c.*202G>C (n.*202G>C) n.257G>C c.-10-22815G>C (n.-10-22815G>C) c.957G>C (p.Arg319Ser) c.987G>C (p.Arg329Ser) c.750G>C (p.Arg250Ser) c.1044G>C (p.Arg348Ser) | |
7 | g.50470112C>T | CA454931756 | DDC,FIGNL1 | c.1101G>A (p.Arg367=) c.867G>A (p.Arg289=) c.743G>A c.822G>A (p.Arg274=) c.*202G>A (n.*202G>A) n.257G>A c.-10-22815G>A (n.-10-22815G>A) c.957G>A (p.Arg319=) c.987G>A (p.Arg329=) c.750G>A (p.Arg250=) c.1044G>A (p.Arg348=) | COSMIC |
7 | g.50470113C>A | CA367533298 | DDC,FIGNL1 | c.1100G>T (p.Arg367Met) c.866G>T (p.Arg289Met) c.742G>T c.821G>T (p.Arg274Met) c.*201G>T (n.*201G>T) n.256G>T c.-10-22816G>T (n.-10-22816G>T) c.956G>T (p.Arg319Met) c.986G>T (p.Arg329Met) c.749G>T (p.Arg250Met) c.1043G>T (p.Arg348Met) | |
7 | g.50470113C>G | CA367533302 | DDC,FIGNL1 | c.1100G>C (p.Arg367Thr) c.866G>C (p.Arg289Thr) c.742G>C c.821G>C (p.Arg274Thr) c.*201G>C (n.*201G>C) n.256G>C c.-10-22816G>C (n.-10-22816G>C) c.956G>C (p.Arg319Thr) c.986G>C (p.Arg329Thr) c.749G>C (p.Arg250Thr) c.1043G>C (p.Arg348Thr) | |
7 | g.50470113C>T | CA367533306 | DDC,FIGNL1 | c.1100G>A (p.Arg367Lys) c.866G>A (p.Arg289Lys) c.742G>A c.821G>A (p.Arg274Lys) c.*201G>A (n.*201G>A) n.256G>A c.-10-22816G>A (n.-10-22816G>A) c.956G>A (p.Arg319Lys) c.986G>A (p.Arg329Lys) c.749G>A (p.Arg250Lys) c.1043G>A (p.Arg348Lys) | gnomAD v4 |
7 | g.50470114T>A | CA367533319 | DDC,FIGNL1 | c.1099A>T (p.Arg367Trp) c.865A>T (p.Arg289Trp) c.741A>T c.820A>T (p.Arg274Trp) c.*200A>T (n.*200A>T) n.255A>T c.-10-22817A>T (n.-10-22817A>T) c.955A>T (p.Arg319Trp) c.985A>T (p.Arg329Trp) c.748A>T (p.Arg250Trp) c.1042A>T (p.Arg348Trp) | |
7 | g.50470114T>C | CA367533316 | DDC,FIGNL1 | c.1099A>G (p.Arg367Gly) c.865A>G (p.Arg289Gly) c.741A>G c.820A>G (p.Arg274Gly) c.*200A>G (n.*200A>G) n.255A>G c.-10-22817A>G (n.-10-22817A>G) c.955A>G (p.Arg319Gly) c.985A>G (p.Arg329Gly) c.748A>G (p.Arg250Gly) c.1042A>G (p.Arg348Gly) | |
7 | g.50470114T>G | CA454931757 | DDC,FIGNL1 | c.1099A>C (p.Arg367=) c.865A>C (p.Arg289=) c.741A>C c.820A>C (p.Arg274=) c.*200A>C (n.*200A>C) n.255A>C c.-10-22817A>C (n.-10-22817A>C) c.955A>C (p.Arg319=) c.985A>C (p.Arg329=) c.748A>C (p.Arg250=) c.1042A>C (p.Arg348=) | |
7 | g.50470115A>C | CA367533321 | DDC,FIGNL1 | c.1098T>G (p.Phe366Leu) c.864T>G (p.Phe288Leu) c.740T>G c.819T>G (p.Phe273Leu) c.*199T>G (n.*199T>G) n.254T>G c.-10-22818T>G (n.-10-22818T>G) c.954T>G (p.Phe318Leu) c.984T>G (p.Phe328Leu) c.747T>G (p.Phe249Leu) c.1041T>G (p.Phe347Leu) | |
7 | g.50470115A>G | CA454931758 | DDC,FIGNL1 | c.1098T>C (p.Phe366=) c.864T>C (p.Phe288=) c.740T>C c.819T>C (p.Phe273=) c.*199T>C (n.*199T>C) n.254T>C c.-10-22818T>C (n.-10-22818T>C) c.954T>C (p.Phe318=) c.984T>C (p.Phe328=) c.747T>C (p.Phe249=) c.1041T>C (p.Phe347=) | |
7 | g.50470115A>T | CA367533325 | DDC,FIGNL1 | c.1098T>A (p.Phe366Leu) c.864T>A (p.Phe288Leu) c.740T>A c.819T>A (p.Phe273Leu) c.*199T>A (n.*199T>A) n.254T>A c.-10-22818T>A (n.-10-22818T>A) c.954T>A (p.Phe318Leu) c.984T>A (p.Phe328Leu) c.747T>A (p.Phe249Leu) c.1041T>A (p.Phe347Leu) | |
7 | g.50470116A>C | CA367533329 | DDC,FIGNL1 | c.1097T>G (p.Phe366Cys) c.863T>G (p.Phe288Cys) c.739T>G c.818T>G (p.Phe273Cys) c.*198T>G (n.*198T>G) n.253T>G c.-10-22819T>G (n.-10-22819T>G) c.953T>G (p.Phe318Cys) c.983T>G (p.Phe328Cys) c.746T>G (p.Phe249Cys) c.1040T>G (p.Phe347Cys) | |
7 | g.50470116A>G | CA367533335 | DDC,FIGNL1 | c.1097T>C (p.Phe366Ser) c.863T>C (p.Phe288Ser) c.739T>C c.818T>C (p.Phe273Ser) c.*198T>C (n.*198T>C) n.253T>C c.-10-22819T>C (n.-10-22819T>C) c.953T>C (p.Phe318Ser) c.983T>C (p.Phe328Ser) c.746T>C (p.Phe249Ser) c.1040T>C (p.Phe347Ser) | |
7 | g.50470116A>T | CA367533333 | DDC,FIGNL1 | c.1097T>A (p.Phe366Tyr) c.863T>A (p.Phe288Tyr) c.739T>A c.818T>A (p.Phe273Tyr) c.*198T>A (n.*198T>A) n.253T>A c.-10-22819T>A (n.-10-22819T>A) c.953T>A (p.Phe318Tyr) c.983T>A (p.Phe328Tyr) c.746T>A (p.Phe249Tyr) c.1040T>A (p.Phe347Tyr) | gnomAD v4 |
7 | g.50470117A= | CA1706619845 | DDC,FIGNL1 | c.1096T= (p.Phe366=) c.862T= (p.Phe288=) c.738T= c.817T= (p.Phe273=) c.*197T= (n.*197T=) n.252T= c.-10-22820T= (n.-10-22820T=) c.952T= (p.Phe318=) c.982T= (p.Phe328=) c.745T= (p.Phe249=) c.1039T= (p.Phe347=) | |
7 | g.50470117A>C | CA367533339 | DDC,FIGNL1 | c.1096T>G (p.Phe366Val) c.862T>G (p.Phe288Val) c.738T>G c.817T>G (p.Phe273Val) c.*197T>G (n.*197T>G) n.252T>G c.-10-22820T>G (n.-10-22820T>G) c.952T>G (p.Phe318Val) c.982T>G (p.Phe328Val) c.745T>G (p.Phe249Val) c.1039T>G (p.Phe347Val) | dbSNP gnomAD v4 |
7 | g.50470117A>G | CA367533343 | DDC,FIGNL1 | c.1096T>C (p.Phe366Leu) c.862T>C (p.Phe288Leu) c.738T>C c.817T>C (p.Phe273Leu) c.*197T>C (n.*197T>C) n.252T>C c.-10-22820T>C (n.-10-22820T>C) c.952T>C (p.Phe318Leu) c.982T>C (p.Phe328Leu) c.745T>C (p.Phe249Leu) c.1039T>C (p.Phe347Leu) | gnomAD v4 |
7 | g.50470117A>T | CA367533344 | DDC,FIGNL1 | c.1096T>A (p.Phe366Ile) c.862T>A (p.Phe288Ile) c.738T>A c.817T>A (p.Phe273Ile) c.*197T>A (n.*197T>A) n.252T>A c.-10-22820T>A (n.-10-22820T>A) c.952T>A (p.Phe318Ile) c.982T>A (p.Phe328Ile) c.745T>A (p.Phe249Ile) c.1039T>A (p.Phe347Ile) | |
7 | g.50470118T>A | CA454931759 | DDC,FIGNL1 | c.1095A>T (p.Val365=) c.861A>T (p.Val287=) c.737A>T c.816A>T (p.Val272=) c.*196A>T (n.*196A>T) n.251A>T c.-10-22821A>T (n.-10-22821A>T) c.951A>T (p.Val317=) c.981A>T (p.Val327=) c.744A>T (p.Val248=) c.1038A>T (p.Val346=) | |
7 | g.50470118T>C | CA454931760 | DDC,FIGNL1 | c.1095A>G (p.Val365=) c.861A>G (p.Val287=) c.737A>G c.816A>G (p.Val272=) c.*196A>G (n.*196A>G) n.251A>G c.-10-22821A>G (n.-10-22821A>G) c.951A>G (p.Val317=) c.981A>G (p.Val327=) c.744A>G (p.Val248=) c.1038A>G (p.Val346=) | |
7 | g.50470118T>G | CA454931761 | DDC,FIGNL1 | c.1095A>C (p.Val365=) c.861A>C (p.Val287=) c.737A>C c.816A>C (p.Val272=) c.*196A>C (n.*196A>C) n.251A>C c.-10-22821A>C (n.-10-22821A>C) c.951A>C (p.Val317=) c.981A>C (p.Val327=) c.744A>C (p.Val248=) c.1038A>C (p.Val346=) | |
7 | g.50470119A>C | CA367533347 | DDC,FIGNL1 | c.1094T>G (p.Val365Gly) c.860T>G (p.Val287Gly) c.736T>G c.815T>G (p.Val272Gly) c.*195T>G (n.*195T>G) n.250T>G c.-10-22822T>G (n.-10-22822T>G) c.950T>G (p.Val317Gly) c.980T>G (p.Val327Gly) c.743T>G (p.Val248Gly) c.1037T>G (p.Val346Gly) | |
7 | g.50470119A>G | CA367533350 | DDC,FIGNL1 | c.1094T>C (p.Val365Ala) c.860T>C (p.Val287Ala) c.736T>C c.815T>C (p.Val272Ala) c.*195T>C (n.*195T>C) n.250T>C c.-10-22822T>C (n.-10-22822T>C) c.950T>C (p.Val317Ala) c.980T>C (p.Val327Ala) c.743T>C (p.Val248Ala) c.1037T>C (p.Val346Ala) | |
7 | g.50470119A>T | CA367533351 | DDC,FIGNL1 | c.1094T>A (p.Val365Glu) c.860T>A (p.Val287Glu) c.736T>A c.815T>A (p.Val272Glu) c.*195T>A (n.*195T>A) n.250T>A c.-10-22822T>A (n.-10-22822T>A) c.950T>A (p.Val317Glu) c.980T>A (p.Val327Glu) c.743T>A (p.Val248Glu) c.1037T>A (p.Val346Glu) | |
7 | g.50470120C>A | CA367533352 | DDC,FIGNL1 | c.1093G>T (p.Val365Leu) c.859G>T (p.Val287Leu) c.735G>T c.814G>T (p.Val272Leu) c.*194G>T (n.*194G>T) n.249G>T c.-10-22823G>T (n.-10-22823G>T) c.949G>T (p.Val317Leu) c.979G>T (p.Val327Leu) c.742G>T (p.Val248Leu) c.1036G>T (p.Val346Leu) | |
7 | g.50470120C>G | CA367533353 | DDC,FIGNL1 | c.1093G>C (p.Val365Leu) c.859G>C (p.Val287Leu) c.735G>C c.814G>C (p.Val272Leu) c.*194G>C (n.*194G>C) n.249G>C c.-10-22823G>C (n.-10-22823G>C) c.949G>C (p.Val317Leu) c.979G>C (p.Val327Leu) c.742G>C (p.Val248Leu) c.1036G>C (p.Val346Leu) | |
7 | g.50470120C>T | CA367533355 | DDC,FIGNL1 | c.1093G>A (p.Val365Ile) c.859G>A (p.Val287Ile) c.735G>A c.814G>A (p.Val272Ile) c.*194G>A (n.*194G>A) n.249G>A c.-10-22823G>A (n.-10-22823G>A) c.949G>A (p.Val317Ile) c.979G>A (p.Val327Ile) c.742G>A (p.Val248Ile) c.1036G>A (p.Val346Ile) | |
7 | g.50470121A>C | CA367533363 | DDC,FIGNL1 | c.1092T>G (p.Phe364Leu) c.858T>G (p.Phe286Leu) c.734T>G c.813T>G (p.Phe271Leu) c.*193T>G (n.*193T>G) n.248T>G c.-10-22824T>G (n.-10-22824T>G) c.948T>G (p.Phe316Leu) c.978T>G (p.Phe326Leu) c.741T>G (p.Phe247Leu) c.1035T>G (p.Phe345Leu) | |
7 | g.50470121A>G | CA454931762 | DDC,FIGNL1 | c.1092T>C (p.Phe364=) c.858T>C (p.Phe286=) c.734T>C c.813T>C (p.Phe271=) c.*193T>C (n.*193T>C) n.248T>C c.-10-22824T>C (n.-10-22824T>C) c.948T>C (p.Phe316=) c.978T>C (p.Phe326=) c.741T>C (p.Phe247=) c.1035T>C (p.Phe345=) | |
7 | g.50470121A>T | CA367533367 | DDC,FIGNL1 | c.1092T>A (p.Phe364Leu) c.858T>A (p.Phe286Leu) c.734T>A c.813T>A (p.Phe271Leu) c.*193T>A (n.*193T>A) n.248T>A c.-10-22824T>A (n.-10-22824T>A) c.948T>A (p.Phe316Leu) c.978T>A (p.Phe326Leu) c.741T>A (p.Phe247Leu) c.1035T>A (p.Phe345Leu) | |
7 | g.50470122A>C | CA367533382 | DDC,FIGNL1 | c.1091T>G (p.Phe364Cys) c.857T>G (p.Phe286Cys) c.733T>G c.812T>G (p.Phe271Cys) c.*192T>G (n.*192T>G) n.247T>G c.-10-22825T>G (n.-10-22825T>G) c.947T>G (p.Phe316Cys) c.977T>G (p.Phe326Cys) c.740T>G (p.Phe247Cys) c.1034T>G (p.Phe345Cys) | |
7 | g.50470122A>G | CA367533373 | DDC,FIGNL1 | c.1091T>C (p.Phe364Ser) c.857T>C (p.Phe286Ser) c.733T>C c.812T>C (p.Phe271Ser) c.*192T>C (n.*192T>C) n.247T>C c.-10-22825T>C (n.-10-22825T>C) c.947T>C (p.Phe316Ser) c.977T>C (p.Phe326Ser) c.740T>C (p.Phe247Ser) c.1034T>C (p.Phe345Ser) | |
7 | g.50470122A>T | CA367533370 | DDC,FIGNL1 | c.1091T>A (p.Phe364Tyr) c.857T>A (p.Phe286Tyr) c.733T>A c.812T>A (p.Phe271Tyr) c.*192T>A (n.*192T>A) n.247T>A c.-10-22825T>A (n.-10-22825T>A) c.947T>A (p.Phe316Tyr) c.977T>A (p.Phe326Tyr) c.740T>A (p.Phe247Tyr) c.1034T>A (p.Phe345Tyr) | |
7 | g.50470123A>C | CA367533385 | DDC,FIGNL1 | c.1090T>G (p.Phe364Val) c.856T>G (p.Phe286Val) c.732T>G c.811T>G (p.Phe271Val) c.*191T>G (n.*191T>G) n.246T>G c.-10-22826T>G (n.-10-22826T>G) c.946T>G (p.Phe316Val) c.976T>G (p.Phe326Val) c.739T>G (p.Phe247Val) c.1033T>G (p.Phe345Val) | |
7 | g.50470123A>G | CA367533387 | DDC,FIGNL1 | c.1090T>C (p.Phe364Leu) c.856T>C (p.Phe286Leu) c.732T>C c.811T>C (p.Phe271Leu) c.*191T>C (n.*191T>C) n.246T>C c.-10-22826T>C (n.-10-22826T>C) c.946T>C (p.Phe316Leu) c.976T>C (p.Phe326Leu) c.739T>C (p.Phe247Leu) c.1033T>C (p.Phe345Leu) | |
7 | g.50470123A>T | CA367533398 | DDC,FIGNL1 | c.1090T>A (p.Phe364Ile) c.856T>A (p.Phe286Ile) c.732T>A c.811T>A (p.Phe271Ile) c.*191T>A (n.*191T>A) n.246T>A c.-10-22826T>A (n.-10-22826T>A) c.946T>A (p.Phe316Ile) c.976T>A (p.Phe326Ile) c.739T>A (p.Phe247Ile) c.1033T>A (p.Phe345Ile) | |
7 | g.50470124C>A | CA367533401 | DDC,FIGNL1 | c.1089G>T (p.Trp363Cys) c.855G>T (p.Trp285Cys) c.731G>T c.810G>T (p.Trp270Cys) c.*190G>T (n.*190G>T) n.245G>T c.-10-22827G>T (n.-10-22827G>T) c.945G>T (p.Trp315Cys) c.975G>T (p.Trp325Cys) c.738G>T (p.Trp246Cys) c.1032G>T (p.Trp344Cys) | |
7 | g.50470124C= | CA1706619846 | DDC,FIGNL1 | c.1089G= (p.Trp363=) c.855G= (p.Trp285=) c.731G= c.810G= (p.Trp270=) c.*190G= (n.*190G=) n.245G= c.-10-22827G= (n.-10-22827G=) c.945G= (p.Trp315=) c.975G= (p.Trp325=) c.738G= (p.Trp246=) c.1032G= (p.Trp344=) | |
7 | g.50470124C>G | CA367533410 | DDC,FIGNL1 | c.1089G>C (p.Trp363Cys) c.855G>C (p.Trp285Cys) c.731G>C c.810G>C (p.Trp270Cys) c.*190G>C (n.*190G>C) n.245G>C c.-10-22827G>C (n.-10-22827G>C) c.945G>C (p.Trp315Cys) c.975G>C (p.Trp325Cys) c.738G>C (p.Trp246Cys) c.1032G>C (p.Trp344Cys) | |
7 | g.50470124C>T | CA367533413 | DDC,FIGNL1 | c.1089G>A (p.Trp363Ter) c.855G>A (p.Trp285Ter) c.731G>A c.810G>A (p.Trp270Ter) c.*190G>A (n.*190G>A) n.245G>A c.-10-22827G>A (n.-10-22827G>A) c.945G>A (p.Trp315Ter) c.975G>A (p.Trp325Ter) c.738G>A (p.Trp246Ter) c.1032G>A (p.Trp344Ter) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.50470125C>A | CA367533416 | DDC,FIGNL1 | c.1088G>T (p.Trp363Leu) c.854G>T (p.Trp285Leu) c.730G>T c.809G>T (p.Trp270Leu) c.*189G>T (n.*189G>T) n.244G>T c.-10-22828G>T (n.-10-22828G>T) c.944G>T (p.Trp315Leu) c.974G>T (p.Trp325Leu) c.737G>T (p.Trp246Leu) c.1031G>T (p.Trp344Leu) | |
7 | g.50470125C>G | CA367533422 | DDC,FIGNL1 | c.1088G>C (p.Trp363Ser) c.854G>C (p.Trp285Ser) c.730G>C c.809G>C (p.Trp270Ser) c.*189G>C (n.*189G>C) n.244G>C c.-10-22828G>C (n.-10-22828G>C) c.944G>C (p.Trp315Ser) c.974G>C (p.Trp325Ser) c.737G>C (p.Trp246Ser) c.1031G>C (p.Trp344Ser) | |
7 | g.50470125C>T | CA367533425 | DDC,FIGNL1 | c.1088G>A (p.Trp363Ter) c.854G>A (p.Trp285Ter) c.730G>A c.809G>A (p.Trp270Ter) c.*189G>A (n.*189G>A) n.244G>A c.-10-22828G>A (n.-10-22828G>A) c.944G>A (p.Trp315Ter) c.974G>A (p.Trp325Ter) c.737G>A (p.Trp246Ter) c.1031G>A (p.Trp344Ter) | |
7 | g.50470126A= | CA1706619847 | DDC,FIGNL1 | c.1087T= (p.Trp363=) c.853T= (p.Trp285=) c.729T= c.808T= (p.Trp270=) c.*188T= (n.*188T=) n.243T= c.-10-22829T= (n.-10-22829T=) c.943T= (p.Trp315=) c.973T= (p.Trp325=) c.736T= (p.Trp246=) c.1030T= (p.Trp344=) | |
7 | g.50470126A>C | CA367533427 | DDC,FIGNL1 | c.1087T>G (p.Trp363Gly) c.853T>G (p.Trp285Gly) c.729T>G c.808T>G (p.Trp270Gly) c.*188T>G (n.*188T>G) n.243T>G c.-10-22829T>G (n.-10-22829T>G) c.943T>G (p.Trp315Gly) c.973T>G (p.Trp325Gly) c.736T>G (p.Trp246Gly) c.1030T>G (p.Trp344Gly) | |
7 | g.50470126A>G | CA367533428 | DDC,FIGNL1 | c.1087T>C (p.Trp363Arg) c.853T>C (p.Trp285Arg) c.729T>C c.808T>C (p.Trp270Arg) c.*188T>C (n.*188T>C) n.243T>C c.-10-22829T>C (n.-10-22829T>C) c.943T>C (p.Trp315Arg) c.973T>C (p.Trp325Arg) c.736T>C (p.Trp246Arg) c.1030T>C (p.Trp344Arg) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.50470126A>T | CA367533429 | DDC,FIGNL1 | c.1087T>A (p.Trp363Arg) c.853T>A (p.Trp285Arg) c.729T>A c.808T>A (p.Trp270Arg) c.*188T>A (n.*188T>A) n.243T>A c.-10-22829T>A (n.-10-22829T>A) c.943T>A (p.Trp315Arg) c.973T>A (p.Trp325Arg) c.736T>A (p.Trp246Arg) c.1030T>A (p.Trp344Arg) | |
7 | g.50470127C>A | CA367533431 | DDC,FIGNL1 | c.1086G>T (p.Met362Ile) c.852G>T (p.Met284Ile) c.728G>T c.807G>T (p.Met269Ile) c.*187G>T (n.*187G>T) n.242G>T c.-10-22830G>T (n.-10-22830G>T) c.942G>T (p.Met314Ile) c.972G>T (p.Met324Ile) c.735G>T (p.Met245Ile) c.1029G>T (p.Met343Ile) | |
7 | g.50470127C= | CA1706619848 | DDC,FIGNL1 | c.1086G= (p.Met362=) c.852G= (p.Met284=) c.728G= c.807G= (p.Met269=) c.*187G= (n.*187G=) n.242G= c.-10-22830G= (n.-10-22830G=) c.942G= (p.Met314=) c.972G= (p.Met324=) c.735G= (p.Met245=) c.1029G= (p.Met343=) | |
7 | g.50470127C>G | CA367533430 | DDC,FIGNL1 | c.1086G>C (p.Met362Ile) c.852G>C (p.Met284Ile) c.728G>C c.807G>C (p.Met269Ile) c.*187G>C (n.*187G>C) n.242G>C c.-10-22830G>C (n.-10-22830G>C) c.942G>C (p.Met314Ile) c.972G>C (p.Met324Ile) c.735G>C (p.Met245Ile) c.1029G>C (p.Met343Ile) | |
7 | g.50470127C>T | CA158224346 | DDC,FIGNL1 | c.1086G>A (p.Met362Ile) c.852G>A (p.Met284Ile) c.728G>A c.807G>A (p.Met269Ile) c.*187G>A (n.*187G>A) n.242G>A c.-10-22830G>A (n.-10-22830G>A) c.942G>A (p.Met314Ile) c.972G>A (p.Met324Ile) c.735G>A (p.Met245Ile) c.1029G>A (p.Met343Ile) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.50470128A= | CA1706619849 | DDC,FIGNL1 | c.1085T= (p.Met362=) c.851T= (p.Met284=) c.727T= c.806T= (p.Met269=) c.*186T= (n.*186T=) n.241T= c.-10-22831T= (n.-10-22831T=) c.941T= (p.Met314=) c.971T= (p.Met324=) c.734T= (p.Met245=) c.1028T= (p.Met343=) | |
7 | g.50470128A>C | CA367533432 | DDC,FIGNL1 | c.1085T>G (p.Met362Arg) c.851T>G (p.Met284Arg) c.727T>G c.806T>G (p.Met269Arg) c.*186T>G (n.*186T>G) n.241T>G c.-10-22831T>G (n.-10-22831T>G) c.941T>G (p.Met314Arg) c.971T>G (p.Met324Arg) c.734T>G (p.Met245Arg) c.1028T>G (p.Met343Arg) | |
7 | g.50470128A>G | CA158224348 | DDC,FIGNL1 | c.1085T>C (p.Met362Thr) c.851T>C (p.Met284Thr) c.727T>C c.806T>C (p.Met269Thr) c.*186T>C (n.*186T>C) n.241T>C c.-10-22831T>C (n.-10-22831T>C) c.941T>C (p.Met314Thr) c.971T>C (p.Met324Thr) c.734T>C (p.Met245Thr) c.1028T>C (p.Met343Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.50470128A>T | CA367533437 | DDC,FIGNL1 | c.1085T>A (p.Met362Lys) c.851T>A (p.Met284Lys) c.727T>A c.806T>A (p.Met269Lys) c.*186T>A (n.*186T>A) n.241T>A c.-10-22831T>A (n.-10-22831T>A) c.941T>A (p.Met314Lys) c.971T>A (p.Met324Lys) c.734T>A (p.Met245Lys) c.1028T>A (p.Met343Lys) | |
7 | g.50470129T>A | CA367533440 | DDC,FIGNL1 | c.1084A>T (p.Met362Leu) c.850A>T (p.Met284Leu) c.726A>T c.805A>T (p.Met269Leu) c.*185A>T (n.*185A>T) n.240A>T c.-10-22832A>T (n.-10-22832A>T) c.940A>T (p.Met314Leu) c.970A>T (p.Met324Leu) c.733A>T (p.Met245Leu) c.1027A>T (p.Met343Leu) | |
7 | g.50470129T>C | CA367533441 | DDC,FIGNL1 | c.1084A>G (p.Met362Val) c.850A>G (p.Met284Val) c.726A>G c.805A>G (p.Met269Val) c.*185A>G (n.*185A>G) n.240A>G c.-10-22832A>G (n.-10-22832A>G) c.940A>G (p.Met314Val) c.970A>G (p.Met324Val) c.733A>G (p.Met245Val) c.1027A>G (p.Met343Val) | |
7 | g.50470129T>G | CA367533446 | DDC,FIGNL1 | c.1084A>C (p.Met362Leu) c.850A>C (p.Met284Leu) c.726A>C c.805A>C (p.Met269Leu) c.*185A>C (n.*185A>C) n.240A>C c.-10-22832A>C (n.-10-22832A>C) c.940A>C (p.Met314Leu) c.970A>C (p.Met324Leu) c.733A>C (p.Met245Leu) c.1027A>C (p.Met343Leu) | |
7 | g.50470130T>A | CA367533450 | DDC,FIGNL1 | c.1083A>T (p.Lys361Asn) c.849A>T (p.Lys283Asn) c.725A>T c.804A>T (p.Lys268Asn) c.*184A>T (n.*184A>T) n.239A>T c.-10-22833A>T (n.-10-22833A>T) c.939A>T (p.Lys313Asn) c.969A>T (p.Lys323Asn) c.732A>T (p.Lys244Asn) c.1026A>T (p.Lys342Asn) | |
7 | g.50470130T>C | CA454931763 | DDC,FIGNL1 | c.1083A>G (p.Lys361=) c.849A>G (p.Lys283=) c.725A>G c.804A>G (p.Lys268=) c.*184A>G (n.*184A>G) n.239A>G c.-10-22833A>G (n.-10-22833A>G) c.939A>G (p.Lys313=) c.969A>G (p.Lys323=) c.732A>G (p.Lys244=) c.1026A>G (p.Lys342=) | |
7 | g.50470130T>G | CA367533452 | DDC,FIGNL1 | c.1083A>C (p.Lys361Asn) c.849A>C (p.Lys283Asn) c.725A>C c.804A>C (p.Lys268Asn) c.*184A>C (n.*184A>C) n.239A>C c.-10-22833A>C (n.-10-22833A>C) c.939A>C (p.Lys313Asn) c.969A>C (p.Lys323Asn) c.732A>C (p.Lys244Asn) c.1026A>C (p.Lys342Asn) | |
7 | g.50470130_50470138del | CA2682808966 | DDC,FIGNL1 | c.1075_1083del (p.Ser359_Lys361del) c.841_849del (p.Ser281_Lys283del) c.717_725del c.796_804del (p.Ser266_Lys268del) c.*176_*184del (n.*176_*184del) n.231_239del c.-10-22841_-10-22833del (n.-10-22841_-10-22833del) c.931_939del (p.Ser311_Lys313del) c.961_969del (p.Ser321_Lys323del) c.724_732del (p.Ser242_Lys244del) c.1018_1026del (p.Ser340_Lys342del) | gnomAD v4 |
7 | g.50470131T>A | CA367533455 | DDC,FIGNL1 | c.1082A>T (p.Lys361Ile) c.848A>T (p.Lys283Ile) c.724A>T c.803A>T (p.Lys268Ile) c.*183A>T (n.*183A>T) n.238A>T c.-10-22834A>T (n.-10-22834A>T) c.938A>T (p.Lys313Ile) c.968A>T (p.Lys323Ile) c.731A>T (p.Lys244Ile) c.1025A>T (p.Lys342Ile) | |
7 | g.50470131T>C | CA367533460 | DDC,FIGNL1 | c.1082A>G (p.Lys361Arg) c.848A>G (p.Lys283Arg) c.724A>G c.803A>G (p.Lys268Arg) c.*183A>G (n.*183A>G) n.238A>G c.-10-22834A>G (n.-10-22834A>G) c.938A>G (p.Lys313Arg) c.968A>G (p.Lys323Arg) c.731A>G (p.Lys244Arg) c.1025A>G (p.Lys342Arg) | |
7 | g.50470131T>G | CA367533464 | DDC,FIGNL1 | c.1082A>C (p.Lys361Thr) c.848A>C (p.Lys283Thr) c.724A>C c.803A>C (p.Lys268Thr) c.*183A>C (n.*183A>C) n.238A>C c.-10-22834A>C (n.-10-22834A>C) c.938A>C (p.Lys313Thr) c.968A>C (p.Lys323Thr) c.731A>C (p.Lys244Thr) c.1025A>C (p.Lys342Thr) | |
7 | g.50470132T>A | CA367533468 | DDC,FIGNL1 | c.1081A>T (p.Lys361Ter) c.847A>T (p.Lys283Ter) c.723A>T c.802A>T (p.Lys268Ter) c.*182A>T (n.*182A>T) n.237A>T c.-10-22835A>T (n.-10-22835A>T) c.937A>T (p.Lys313Ter) c.967A>T (p.Lys323Ter) c.730A>T (p.Lys244Ter) c.1024A>T (p.Lys342Ter) | |
7 | g.50470132T>C | CA367533472 | DDC,FIGNL1 | c.1081A>G (p.Lys361Glu) c.847A>G (p.Lys283Glu) c.723A>G c.802A>G (p.Lys268Glu) c.*182A>G (n.*182A>G) n.237A>G c.-10-22835A>G (n.-10-22835A>G) c.937A>G (p.Lys313Glu) c.967A>G (p.Lys323Glu) c.730A>G (p.Lys244Glu) c.1024A>G (p.Lys342Glu) | |
7 | g.50470132T>G | CA367533474 | DDC,FIGNL1 | c.1081A>C (p.Lys361Gln) c.847A>C (p.Lys283Gln) c.723A>C c.802A>C (p.Lys268Gln) c.*182A>C (n.*182A>C) n.237A>C c.-10-22835A>C (n.-10-22835A>C) c.937A>C (p.Lys313Gln) c.967A>C (p.Lys323Gln) c.730A>C (p.Lys244Gln) c.1024A>C (p.Lys342Gln) | |
7 | g.50470133C>A | CA367533481 | DDC,FIGNL1 | c.1080G>T (p.Leu360Phe) c.846G>T (p.Leu282Phe) c.722G>T c.801G>T (p.Leu267Phe) c.*181G>T (n.*181G>T) n.236G>T c.-10-22836G>T (n.-10-22836G>T) c.936G>T (p.Leu312Phe) c.966G>T (p.Leu322Phe) c.729G>T (p.Leu243Phe) c.1023G>T (p.Leu341Phe) | |
7 | g.50470133C>G | CA367533484 | DDC,FIGNL1 | c.1080G>C (p.Leu360Phe) c.846G>C (p.Leu282Phe) c.722G>C c.801G>C (p.Leu267Phe) c.*181G>C (n.*181G>C) n.236G>C c.-10-22836G>C (n.-10-22836G>C) c.936G>C (p.Leu312Phe) c.966G>C (p.Leu322Phe) c.729G>C (p.Leu243Phe) c.1023G>C (p.Leu341Phe) | |
7 | g.50470133C>T | CA454931765 | DDC,FIGNL1 | c.1080G>A (p.Leu360=) c.846G>A (p.Leu282=) c.722G>A c.801G>A (p.Leu267=) c.*181G>A (n.*181G>A) n.236G>A c.-10-22836G>A (n.-10-22836G>A) c.936G>A (p.Leu312=) c.966G>A (p.Leu322=) c.729G>A (p.Leu243=) c.1023G>A (p.Leu341=) | |
7 | g.50470133_50470136del | CA2775390636 | DDC,FIGNL1 | c.1077_1080del (p.Leu360LysfsTer?) c.843_846del (p.Leu282LysfsTer?) c.719_722del c.798_801del (p.Leu267LysfsTer?) c.*178_*181del (n.*178_*181del) n.233_236del c.-10-22839_-10-22836del (n.-10-22839_-10-22836del) c.933_936del (p.Leu312LysfsTer?) c.963_966del (p.Leu322LysfsTer?) c.726_729del (p.Leu243LysfsTer?) c.1020_1023del (p.Leu341LysfsTer?) | |
7 | g.50470134A>C | CA367533486 | DDC,FIGNL1 | c.1079T>G (p.Leu360Trp) c.845T>G (p.Leu282Trp) c.721T>G c.800T>G (p.Leu267Trp) c.*180T>G (n.*180T>G) n.235T>G c.-10-22837T>G (n.-10-22837T>G) c.935T>G (p.Leu312Trp) c.965T>G (p.Leu322Trp) c.728T>G (p.Leu243Trp) c.1022T>G (p.Leu341Trp) | |
7 | g.50470134A>G | CA367533488 | DDC,FIGNL1 | c.1079T>C (p.Leu360Ser) c.845T>C (p.Leu282Ser) c.721T>C c.800T>C (p.Leu267Ser) c.*180T>C (n.*180T>C) n.235T>C c.-10-22837T>C (n.-10-22837T>C) c.935T>C (p.Leu312Ser) c.965T>C (p.Leu322Ser) c.728T>C (p.Leu243Ser) c.1022T>C (p.Leu341Ser) | |
7 | g.50470134A>T | CA367533493 | DDC,FIGNL1 | c.1079T>A (p.Leu360Ter) c.845T>A (p.Leu282Ter) c.721T>A c.800T>A (p.Leu267Ter) c.*180T>A (n.*180T>A) n.235T>A c.-10-22837T>A (n.-10-22837T>A) c.935T>A (p.Leu312Ter) c.965T>A (p.Leu322Ter) c.728T>A (p.Leu243Ter) c.1022T>A (p.Leu341Ter) | |
7 | g.50470135A>C | CA367533496 | DDC,FIGNL1 | c.1078T>G (p.Leu360Val) c.844T>G (p.Leu282Val) c.720T>G c.799T>G (p.Leu267Val) c.*179T>G (n.*179T>G) n.234T>G c.-10-22838T>G (n.-10-22838T>G) c.934T>G (p.Leu312Val) c.964T>G (p.Leu322Val) c.727T>G (p.Leu243Val) c.1021T>G (p.Leu341Val) | |
7 | g.50470135A>G | CA454931766 | DDC,FIGNL1 | c.1078T>C (p.Leu360=) c.844T>C (p.Leu282=) c.720T>C c.799T>C (p.Leu267=) c.*179T>C (n.*179T>C) n.234T>C c.-10-22838T>C (n.-10-22838T>C) c.934T>C (p.Leu312=) c.964T>C (p.Leu322=) c.727T>C (p.Leu243=) c.1021T>C (p.Leu341=) | |
7 | g.50470135A>T | CA367533499 | DDC,FIGNL1 | c.1078T>A (p.Leu360Met) c.844T>A (p.Leu282Met) c.720T>A c.799T>A (p.Leu267Met) c.*179T>A (n.*179T>A) n.234T>A c.-10-22838T>A (n.-10-22838T>A) c.934T>A (p.Leu312Met) c.964T>A (p.Leu322Met) c.727T>A (p.Leu243Met) c.1021T>A (p.Leu341Met) | |
7 | g.50470136A= | CA1706619850 | DDC,FIGNL1 | c.1077T= (p.Ser359=) c.843T= (p.Ser281=) c.719T= c.798T= (p.Ser266=) c.*178T= (n.*178T=) n.233T= c.-10-22839T= (n.-10-22839T=) c.933T= (p.Ser311=) c.963T= (p.Ser321=) c.726T= (p.Ser242=) c.1020T= (p.Ser340=) | |
7 | g.50470136A>C | CA454931767 | DDC,FIGNL1 | c.1077T>G (p.Ser359=) c.843T>G (p.Ser281=) c.719T>G c.798T>G (p.Ser266=) c.*178T>G (n.*178T>G) n.233T>G c.-10-22839T>G (n.-10-22839T>G) c.933T>G (p.Ser311=) c.963T>G (p.Ser321=) c.726T>G (p.Ser242=) c.1020T>G (p.Ser340=) | |
7 | g.50470136A>G | CA454931768 | DDC,FIGNL1 | c.1077T>C (p.Ser359=) c.843T>C (p.Ser281=) c.719T>C c.798T>C (p.Ser266=) c.*178T>C (n.*178T>C) n.233T>C c.-10-22839T>C (n.-10-22839T>C) c.933T>C (p.Ser311=) c.963T>C (p.Ser321=) c.726T>C (p.Ser242=) c.1020T>C (p.Ser340=) | gnomAD v4 |
7 | g.50470136A>T | CA454931769 | DDC,FIGNL1 | c.1077T>A (p.Ser359=) c.843T>A (p.Ser281=) c.719T>A c.798T>A (p.Ser266=) c.*178T>A (n.*178T>A) n.233T>A c.-10-22839T>A (n.-10-22839T>A) c.933T>A (p.Ser311=) c.963T>A (p.Ser321=) c.726T>A (p.Ser242=) c.1020T>A (p.Ser340=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.50470137G>A | CA367533502 | DDC,FIGNL1 | c.1076C>T (p.Ser359Phe) c.842C>T (p.Ser281Phe) c.718C>T c.797C>T (p.Ser266Phe) c.*177C>T (n.*177C>T) n.232C>T c.-10-22840C>T (n.-10-22840C>T) c.932C>T (p.Ser311Phe) c.962C>T (p.Ser321Phe) c.725C>T (p.Ser242Phe) c.1019C>T (p.Ser340Phe) | |
7 | g.50470137G>C | CA367533503 | DDC,FIGNL1 | c.1076C>G (p.Ser359Cys) c.842C>G (p.Ser281Cys) c.718C>G c.797C>G (p.Ser266Cys) c.*177C>G (n.*177C>G) n.232C>G c.-10-22840C>G (n.-10-22840C>G) c.932C>G (p.Ser311Cys) c.962C>G (p.Ser321Cys) c.725C>G (p.Ser242Cys) c.1019C>G (p.Ser340Cys) | |
7 | g.50470137G>T | CA367533504 | DDC,FIGNL1 | c.1076C>A (p.Ser359Tyr) c.842C>A (p.Ser281Tyr) c.718C>A c.797C>A (p.Ser266Tyr) c.*177C>A (n.*177C>A) n.232C>A c.-10-22840C>A (n.-10-22840C>A) c.932C>A (p.Ser311Tyr) c.962C>A (p.Ser321Tyr) c.725C>A (p.Ser242Tyr) c.1019C>A (p.Ser340Tyr) | |
7 | g.50470138A>C | CA367533505 | DDC,FIGNL1 | c.1075T>G (p.Ser359Ala) c.841T>G (p.Ser281Ala) c.717T>G c.796T>G (p.Ser266Ala) c.*176T>G (n.*176T>G) n.231T>G c.-10-22841T>G (n.-10-22841T>G) c.931T>G (p.Ser311Ala) c.961T>G (p.Ser321Ala) c.724T>G (p.Ser242Ala) c.1018T>G (p.Ser340Ala) | |
7 | g.50470138A>G | CA367533508 | DDC,FIGNL1 | c.1075T>C (p.Ser359Pro) c.841T>C (p.Ser281Pro) c.717T>C c.796T>C (p.Ser266Pro) c.*176T>C (n.*176T>C) n.231T>C c.-10-22841T>C (n.-10-22841T>C) c.931T>C (p.Ser311Pro) c.961T>C (p.Ser321Pro) c.724T>C (p.Ser242Pro) c.1018T>C (p.Ser340Pro) | |
7 | g.50470138A>T | CA367533509 | DDC,FIGNL1 | c.1075T>A (p.Ser359Thr) c.841T>A (p.Ser281Thr) c.717T>A c.796T>A (p.Ser266Thr) c.*176T>A (n.*176T>A) n.231T>A c.-10-22841T>A (n.-10-22841T>A) c.931T>A (p.Ser311Thr) c.961T>A (p.Ser321Thr) c.724T>A (p.Ser242Thr) c.1018T>A (p.Ser340Thr) | |
7 | g.50470139G>A | CA454931770 | DDC,FIGNL1 | c.1074C>T (p.Arg358=) c.840C>T (p.Arg280=) c.716C>T c.795C>T (p.Arg265=) c.*175C>T (n.*175C>T) n.230C>T c.-10-22842C>T (n.-10-22842C>T) c.930C>T (p.Arg310=) c.960C>T (p.Arg320=) c.723C>T (p.Arg241=) c.1017C>T (p.Arg339=) | |
7 | g.50470139G>C | CA454931771 | DDC,FIGNL1 | c.1074C>G (p.Arg358=) c.840C>G (p.Arg280=) c.716C>G c.795C>G (p.Arg265=) c.*175C>G (n.*175C>G) n.230C>G c.-10-22842C>G (n.-10-22842C>G) c.930C>G (p.Arg310=) c.960C>G (p.Arg320=) c.723C>G (p.Arg241=) c.1017C>G (p.Arg339=) | |
7 | g.50470139G= | CA1706619851 | DDC,FIGNL1 | c.1074C= (p.Arg358=) c.840C= (p.Arg280=) c.716C= c.795C= (p.Arg265=) c.*175C= (n.*175C=) n.230C= c.-10-22842C= (n.-10-22842C=) c.930C= (p.Arg310=) c.960C= (p.Arg320=) c.723C= (p.Arg241=) c.1017C= (p.Arg339=) | |
7 | g.50470139G>T | CA454931772 | DDC,FIGNL1 | c.1074C>A (p.Arg358=) c.840C>A (p.Arg280=) c.716C>A c.795C>A (p.Arg265=) c.*175C>A (n.*175C>A) n.230C>A c.-10-22842C>A (n.-10-22842C>A) c.930C>A (p.Arg310=) c.960C>A (p.Arg320=) c.723C>A (p.Arg241=) c.1017C>A (p.Arg339=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
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 |