| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.50182455_50182552dup | CA1139663483 | SOS2 | c.769_858+8dup c.589_678+8dup c.730_819+8dup n.954-1332_954-1235dup | ClinVar dbSNP |
| 14 | g.50182501G>A | CA7177446 | SOS2 | c.820C>T (p.His274Tyr) n.587C>T c.640C>T (p.His214Tyr) c.781C>T (p.His261Tyr) n.954-1286G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.50182501G>C | CA389647674 | SOS2 | c.820C>G (p.His274Asp) n.587C>G c.640C>G (p.His214Asp) c.781C>G (p.His261Asp) n.954-1286G>C | |
| 14 | g.50182501G= | CA2136086434 | SOS2 | c.820C= (p.His274=) n.587C= c.640C= (p.His214=) c.781C= (p.His261=) n.954-1286G= | |
| 14 | g.50182501G>T | CA389647673 | SOS2 | c.820C>A (p.His274Asn) n.587C>A c.640C>A (p.His214Asn) c.781C>A (p.His261Asn) n.954-1286G>T | |
| 14 | g.50182502A>C | CA486170836 | SOS2 | c.819T>G (p.Pro273=) n.586T>G c.639T>G (p.Pro213=) c.780T>G (p.Pro260=) n.954-1285A>C | |
| 14 | g.50182502A>G | CA486170838 | SOS2 | c.819T>C (p.Pro273=) n.586T>C c.639T>C (p.Pro213=) c.780T>C (p.Pro260=) n.954-1285A>G | |
| 14 | g.50182502A>T | CA486170837 | SOS2 | c.819T>A (p.Pro273=) n.586T>A c.639T>A (p.Pro213=) c.780T>A (p.Pro260=) n.954-1285A>T | |
| 14 | g.50182503G>A | CA389647675 | SOS2 | c.818C>T (p.Pro273Leu) n.585C>T c.638C>T (p.Pro213Leu) c.779C>T (p.Pro260Leu) n.954-1284G>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50182503G>C | CA389647677 | SOS2 | c.818C>G (p.Pro273Arg) n.585C>G c.638C>G (p.Pro213Arg) c.779C>G (p.Pro260Arg) n.954-1284G>C | |
| 14 | g.50182503G= | CA2136086435 | SOS2 | c.818C= (p.Pro273=) n.585C= c.638C= (p.Pro213=) c.779C= (p.Pro260=) n.954-1284G= | |
| 14 | g.50182503G>T | CA389647676 | SOS2 | c.818C>A (p.Pro273His) n.585C>A c.638C>A (p.Pro213His) c.779C>A (p.Pro260His) n.954-1284G>T | |
| 14 | g.50182504G>A | CA389647678 | SOS2 | c.817C>T (p.Pro273Ser) n.584C>T c.637C>T (p.Pro213Ser) c.778C>T (p.Pro260Ser) n.954-1283G>A | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.50182504G>C | CA260708404 | SOS2 | c.817C>G (p.Pro273Ala) n.584C>G c.637C>G (p.Pro213Ala) c.778C>G (p.Pro260Ala) n.954-1283G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.50182504G= | CA2136086436 | SOS2 | c.817C= (p.Pro273=) n.584C= c.637C= (p.Pro213=) c.778C= (p.Pro260=) n.954-1283G= | |
| 14 | g.50182504G>T | CA389647679 | SOS2 | c.817C>A (p.Pro273Thr) n.584C>A c.637C>A (p.Pro213Thr) c.778C>A (p.Pro260Thr) n.954-1283G>T | |
| 14 | g.50182505A= | CA2136086437 | SOS2 | c.816T= (p.Ser272=) n.583T= c.636T= (p.Ser212=) c.777T= (p.Ser259=) n.954-1282A= | |
| 14 | g.50182505A>C | CA389647680 | SOS2 | c.816T>G (p.Ser272Arg) n.583T>G c.636T>G (p.Ser212Arg) c.777T>G (p.Ser259Arg) n.954-1282A>C | |
| 14 | g.50182505A>G | CA7177447 | SOS2 | c.816T>C (p.Ser272=) n.583T>C c.636T>C (p.Ser212=) c.777T>C (p.Ser259=) n.954-1282A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50182505A>T | CA389647681 | SOS2 | c.816T>A (p.Ser272Arg) n.583T>A c.636T>A (p.Ser212Arg) c.777T>A (p.Ser259Arg) n.954-1282A>T | |
| 14 | g.50182506C>A | CA389647682 | SOS2 | c.815G>T (p.Ser272Ile) n.582G>T c.635G>T (p.Ser212Ile) c.776G>T (p.Ser259Ile) n.954-1281C>A | |
| 14 | g.50182506C>G | CA389647683 | SOS2 | c.815G>C (p.Ser272Thr) n.582G>C c.635G>C (p.Ser212Thr) c.776G>C (p.Ser259Thr) n.954-1281C>G | |
| 14 | g.50182506C>T | CA389647684 | SOS2 | c.815G>A (p.Ser272Asn) n.582G>A c.635G>A (p.Ser212Asn) c.776G>A (p.Ser259Asn) n.954-1281C>T | |
| 14 | g.50182507T>A | CA389647685 | SOS2 | c.814A>T (p.Ser272Cys) n.581A>T c.634A>T (p.Ser212Cys) c.775A>T (p.Ser259Cys) n.954-1280T>A | |
| 14 | g.50182507T>C | CA389647686 | SOS2 | c.814A>G (p.Ser272Gly) n.581A>G c.634A>G (p.Ser212Gly) c.775A>G (p.Ser259Gly) n.954-1280T>C | |
| 14 | g.50182507T>G | CA7177448 | SOS2 | c.814A>C (p.Ser272Arg) n.581A>C c.634A>C (p.Ser212Arg) c.775A>C (p.Ser259Arg) n.954-1280T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.50182507T= | CA2136086438 | SOS2 | c.814A= (p.Ser272=) n.581A= c.634A= (p.Ser212=) c.775A= (p.Ser259=) n.954-1280T= | |
| 14 | g.50182508G>A | CA7177449 | SOS2 | c.813C>T (p.Ser271=) n.580C>T c.633C>T (p.Ser211=) c.774C>T (p.Ser258=) n.954-1279G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50182508G>C | CA389647687 | SOS2 | c.813C>G (p.Ser271Arg) n.580C>G c.633C>G (p.Ser211Arg) c.774C>G (p.Ser258Arg) n.954-1279G>C | |
| 14 | g.50182508G= | CA2136086439 | SOS2 | c.813C= (p.Ser271=) n.580C= c.633C= (p.Ser211=) c.774C= (p.Ser258=) n.954-1279G= | |
| 14 | g.50182508G>T | CA389647688 | SOS2 | c.813C>A (p.Ser271Arg) n.580C>A c.633C>A (p.Ser211Arg) c.774C>A (p.Ser258Arg) n.954-1279G>T | |
| 14 | g.50182509C>A | CA389647689 | SOS2 | c.812G>T (p.Ser271Ile) n.579G>T c.632G>T (p.Ser211Ile) c.773G>T (p.Ser258Ile) n.954-1278C>A | |
| 14 | g.50182509C>G | CA389647690 | SOS2 | c.812G>C (p.Ser271Thr) n.579G>C c.632G>C (p.Ser211Thr) c.773G>C (p.Ser258Thr) n.954-1278C>G | |
| 14 | g.50182509C>T | CA389647691 | SOS2 | c.812G>A (p.Ser271Asn) n.579G>A c.632G>A (p.Ser211Asn) c.773G>A (p.Ser258Asn) n.954-1278C>T | |
| 14 | g.50182510T>A | CA389647692 | SOS2 | c.811A>T (p.Ser271Cys) n.578A>T c.631A>T (p.Ser211Cys) c.772A>T (p.Ser258Cys) n.954-1277T>A | |
| 14 | g.50182510T>C | CA7177450 | SOS2 | c.811A>G (p.Ser271Gly) n.578A>G c.631A>G (p.Ser211Gly) c.772A>G (p.Ser258Gly) n.954-1277T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 14 | g.50182510T>G | CA389647693 | SOS2 | c.811A>C (p.Ser271Arg) n.578A>C c.631A>C (p.Ser211Arg) c.772A>C (p.Ser258Arg) n.954-1277T>G | |
| 14 | g.50182510T= | CA2136086440 | SOS2 | c.811A= (p.Ser271=) n.578A= c.631A= (p.Ser211=) c.772A= (p.Ser258=) n.954-1277T= | |
| 14 | g.50182511T>A | CA389647694 | SOS2 | c.810A>T (p.Glu270Asp) n.577A>T c.630A>T (p.Glu210Asp) c.771A>T (p.Glu257Asp) n.954-1276T>A | |
| 14 | g.50182511T>C | CA486170840 | SOS2 | c.810A>G (p.Glu270=) n.577A>G c.630A>G (p.Glu210=) c.771A>G (p.Glu257=) n.954-1276T>C | |
| 14 | g.50182511T>G | CA389647695 | SOS2 | c.810A>C (p.Glu270Asp) n.577A>C c.630A>C (p.Glu210Asp) c.771A>C (p.Glu257Asp) n.954-1276T>G | |
| 14 | g.50182512T>A | CA389647696 | SOS2 | c.809A>T (p.Glu270Val) n.576A>T c.629A>T (p.Glu210Val) c.770A>T (p.Glu257Val) n.954-1275T>A | |
| 14 | g.50182512T>C | CA389647697 | SOS2 | c.809A>G (p.Glu270Gly) n.576A>G c.629A>G (p.Glu210Gly) c.770A>G (p.Glu257Gly) n.954-1275T>C | |
| 14 | g.50182512T>G | CA389647698 | SOS2 | c.809A>C (p.Glu270Ala) n.576A>C c.629A>C (p.Glu210Ala) c.770A>C (p.Glu257Ala) n.954-1275T>G | |
| 14 | g.50182513C>A | CA389647701 | SOS2 | c.808G>T (p.Glu270Ter) n.575G>T c.628G>T (p.Glu210Ter) c.769G>T (p.Glu257Ter) n.954-1274C>A | |
| 14 | g.50182513C>G | CA389647700 | SOS2 | c.808G>C (p.Glu270Gln) n.575G>C c.628G>C (p.Glu210Gln) c.769G>C (p.Glu257Gln) n.954-1274C>G | |
| 14 | g.50182513C>T | CA389647699 | SOS2 | c.808G>A (p.Glu270Lys) n.575G>A c.628G>A (p.Glu210Lys) c.769G>A (p.Glu257Lys) n.954-1274C>T | |
| 14 | g.50182514A>C | CA389647702 | SOS2 | c.807T>G (p.Asp269Glu) n.574T>G c.627T>G (p.Asp209Glu) c.768T>G (p.Asp256Glu) n.954-1273A>C | gnomAD v4 |
| 14 | g.50182514A>G | CA486170842 | SOS2 | c.807T>C (p.Asp269=) n.574T>C c.627T>C (p.Asp209=) c.768T>C (p.Asp256=) n.954-1273A>G | ClinVar gnomAD v4 |
| 14 | g.50182514A>T | CA389647703 | SOS2 | c.807T>A (p.Asp269Glu) n.574T>A c.627T>A (p.Asp209Glu) c.768T>A (p.Asp256Glu) n.954-1273A>T |