Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.50153042G>A | CA2624771411 | SOS2 | c.2161+28C>T (n.2161+28C>T) c.2062+28C>T (n.2062+28C>T) c.1981+28C>T (n.1981+28C>T) c.2122+28C>T (n.2122+28C>T) | gnomAD v4 |
14 | g.50153042G>T | CA2575520453 | SOS2 | c.2161+28C>A (n.2161+28C>A) c.2062+28C>A (n.2062+28C>A) c.1981+28C>A (n.1981+28C>A) c.2122+28C>A (n.2122+28C>A) | gnomAD v4 |
14 | g.50153044T>C | CA2624771412 | SOS2 | c.2161+26A>G (n.2161+26A>G) c.2062+26A>G (n.2062+26A>G) c.1981+26A>G (n.1981+26A>G) c.2122+26A>G (n.2122+26A>G) | gnomAD v4 |
14 | g.50153044_50153048delinsTTCAA | CA2136066044 | SOS2 | c.2161+22_2161+26delinsTTGAA (n.2161+22_2161+26delinsTTGAA) c.2062+22_2062+26delinsTTGAA (n.2062+22_2062+26delinsTTGAA) c.1981+22_1981+26delinsTTGAA (n.1981+22_1981+26delinsTTGAA) c.2122+22_2122+26delinsTTGAA (n.2122+22_2122+26delinsTTGAA) | |
14 | g.50153045T>C | CA2624771413 | SOS2 | c.2161+25A>G (n.2161+25A>G) c.2062+25A>G (n.2062+25A>G) c.1981+25A>G (n.1981+25A>G) c.2122+25A>G (n.2122+25A>G) | gnomAD v4 |
14 | g.50153045T>G | CA613848285 | SOS2 | c.2161+25A>C (n.2161+25A>C) c.2062+25A>C (n.2062+25A>C) c.1981+25A>C (n.1981+25A>C) c.2122+25A>C (n.2122+25A>C) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50153045T= | CA2136066045 | SOS2 | c.2161+25A= (n.2161+25A=) c.2062+25A= (n.2062+25A=) c.1981+25A= (n.1981+25A=) c.2122+25A= (n.2122+25A=) | |
14 | g.50153049_50153052del | CA613848287 | SOS2 | c.2161+22_2161+25del (n.2161+22_2161+25del) c.2062+22_2062+25del (n.2062+22_2062+25del) c.1981+22_1981+25del (n.1981+22_1981+25del) c.2122+22_2122+25del (n.2122+22_2122+25del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50153046C>A | CA963008689 | SOS2 | c.2161+24G>T (n.2161+24G>T) c.2062+24G>T (n.2062+24G>T) c.1981+24G>T (n.1981+24G>T) c.2122+24G>T (n.2122+24G>T) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50153046C= | CA2136066046 | SOS2 | c.2161+24G= (n.2161+24G=) c.2062+24G= (n.2062+24G=) c.1981+24G= (n.1981+24G=) c.2122+24G= (n.2122+24G=) | |
14 | g.50153046C>G | CA706558253 | SOS2 | c.2161+24G>C (n.2161+24G>C) c.2062+24G>C (n.2062+24G>C) c.1981+24G>C (n.1981+24G>C) c.2122+24G>C (n.2122+24G>C) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50153046C>T | CA2624771417 | SOS2 | c.2161+24G>A (n.2161+24G>A) c.2062+24G>A (n.2062+24G>A) c.1981+24G>A (n.1981+24G>A) c.2122+24G>A (n.2122+24G>A) | gnomAD v4 |
14 | g.50153047A>T | CA2624771418 | SOS2 | c.2161+23T>A (n.2161+23T>A) c.2062+23T>A (n.2062+23T>A) c.1981+23T>A (n.1981+23T>A) c.2122+23T>A (n.2122+23T>A) | gnomAD v4 |
14 | g.50153048A>G | CA2575520454 | SOS2 | c.2161+22T>C (n.2161+22T>C) c.2062+22T>C (n.2062+22T>C) c.1981+22T>C (n.1981+22T>C) c.2122+22T>C (n.2122+22T>C) | |
14 | g.50153049T>C | CA2624771420 | SOS2 | c.2161+21A>G (n.2161+21A>G) c.2062+21A>G (n.2062+21A>G) c.1981+21A>G (n.1981+21A>G) c.2122+21A>G (n.2122+21A>G) | gnomAD v4 |
14 | g.50153050C>A | CA2624771422 | SOS2 | c.2161+20G>T (n.2161+20G>T) c.2062+20G>T (n.2062+20G>T) c.1981+20G>T (n.1981+20G>T) c.2122+20G>T (n.2122+20G>T) | gnomAD v4 |
14 | g.50153050_50153051delinsCA | CA2136066047 | SOS2 | c.2161+19_2161+20delinsTG (n.2161+19_2161+20delinsTG) c.2062+19_2062+20delinsTG (n.2062+19_2062+20delinsTG) c.1981+19_1981+20delinsTG (n.1981+19_1981+20delinsTG) c.2122+19_2122+20delinsTG (n.2122+19_2122+20delinsTG) | |
14 | g.50153051A>C | CA2624771426 | SOS2 | c.2161+19T>G (n.2161+19T>G) c.2062+19T>G (n.2062+19T>G) c.1981+19T>G (n.1981+19T>G) c.2122+19T>G (n.2122+19T>G) | dbSNP gnomAD v4 |
14 | g.50153053del | CA389644074 | SOS2 | c.2161+19del (n.2161+19del) c.2062+19del (n.2062+19del) c.1981+19del (n.1981+19del) c.2122+19del (n.2122+19del) | ClinVar dbSNP gnomAD v4 |
14 | g.50153052A= | CA2136066048 | SOS2 | c.2161+18T= (n.2161+18T=) c.2062+18T= (n.2062+18T=) c.1981+18T= (n.1981+18T=) c.2122+18T= (n.2122+18T=) | |
14 | g.50153052A>G | CA2136066049 | SOS2 | c.2161+18T>C (n.2161+18T>C) c.2062+18T>C (n.2062+18T>C) c.1981+18T>C (n.1981+18T>C) c.2122+18T>C (n.2122+18T>C) | dbSNP gnomAD v4 |
14 | g.50153053A= | CA2136066051 | SOS2 | c.2161+17T= (n.2161+17T=) c.2062+17T= (n.2062+17T=) c.1981+17T= (n.1981+17T=) c.2122+17T= (n.2122+17T=) | |
14 | g.50153053A>C | CA613848288 | SOS2 | c.2161+17T>G (n.2161+17T>G) c.2062+17T>G (n.2062+17T>G) c.1981+17T>G (n.1981+17T>G) c.2122+17T>G (n.2122+17T>G) | dbSNP gnomAD v2 |
14 | g.50153053A>G | CA7177118 | SOS2 | c.2161+17T>C (n.2161+17T>C) c.2062+17T>C (n.2062+17T>C) c.1981+17T>C (n.1981+17T>C) c.2122+17T>C (n.2122+17T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50153053_50153054delinsAC | CA2136066050 | SOS2 | c.2161+16_2161+17delinsGT (n.2161+16_2161+17delinsGT) c.2062+16_2062+17delinsGT (n.2062+16_2062+17delinsGT) c.1981+16_1981+17delinsGT (n.1981+16_1981+17delinsGT) c.2122+16_2122+17delinsGT (n.2122+16_2122+17delinsGT) | |
14 | g.50153054C>A | CA260731645 | SOS2 | c.2161+16G>T (n.2161+16G>T) c.2062+16G>T (n.2062+16G>T) c.1981+16G>T (n.1981+16G>T) c.2122+16G>T (n.2122+16G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50153054C= | CA2136066052 | SOS2 | c.2161+16G= (n.2161+16G=) c.2062+16G= (n.2062+16G=) c.1981+16G= (n.1981+16G=) c.2122+16G= (n.2122+16G=) | |
14 | g.50153054C>T | CA2136066053 | SOS2 | c.2161+16G>A (n.2161+16G>A) c.2062+16G>A (n.2062+16G>A) c.1981+16G>A (n.1981+16G>A) c.2122+16G>A (n.2122+16G>A) | dbSNP |
14 | g.50153055del | CA7177117 | SOS2 | c.2161+16del (n.2161+16del) c.2062+16del (n.2062+16del) c.1981+16del (n.1981+16del) c.2122+16del (n.2122+16del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50153055C>A | CA2136066055 | SOS2 | c.2161+15G>T (n.2161+15G>T) c.2062+15G>T (n.2062+15G>T) c.1981+15G>T (n.1981+15G>T) c.2122+15G>T (n.2122+15G>T) | dbSNP gnomAD v4 |
14 | g.50153055C= | CA2136066054 | SOS2 | c.2161+15G= (n.2161+15G=) c.2062+15G= (n.2062+15G=) c.1981+15G= (n.1981+15G=) c.2122+15G= (n.2122+15G=) | |
14 | g.50153055C>G | CA2624771434 | SOS2 | c.2161+15G>C (n.2161+15G>C) c.2062+15G>C (n.2062+15G>C) c.1981+15G>C (n.1981+15G>C) c.2122+15G>C (n.2122+15G>C) | gnomAD v4 |
14 | g.50153056T>A | CA7177119 | SOS2 | c.2161+14A>T (n.2161+14A>T) c.2062+14A>T (n.2062+14A>T) c.1981+14A>T (n.1981+14A>T) c.2122+14A>T (n.2122+14A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50153056T>C | CA2624771437 | SOS2 | c.2161+14A>G (n.2161+14A>G) c.2062+14A>G (n.2062+14A>G) c.1981+14A>G (n.1981+14A>G) c.2122+14A>G (n.2122+14A>G) | gnomAD v4 |
14 | g.50153056T= | CA2136066056 | SOS2 | c.2161+14A= (n.2161+14A=) c.2062+14A= (n.2062+14A=) c.1981+14A= (n.1981+14A=) c.2122+14A= (n.2122+14A=) | |
14 | g.50153057T>C | CA2624771439 | SOS2 | c.2161+13A>G (n.2161+13A>G) c.2062+13A>G (n.2062+13A>G) c.1981+13A>G (n.1981+13A>G) c.2122+13A>G (n.2122+13A>G) | gnomAD v4 |
14 | g.50153058T>C | CA2624771442 | SOS2 | c.2161+12A>G (n.2161+12A>G) c.2062+12A>G (n.2062+12A>G) c.1981+12A>G (n.1981+12A>G) c.2122+12A>G (n.2122+12A>G) | gnomAD v4 |
14 | g.50153058_50153063delinsTATATA | CA2136066057 | SOS2 | c.2161+7_2161+12delinsTATATA (n.2161+7_2161+12delinsTATATA) c.2062+7_2062+12delinsTATATA (n.2062+7_2062+12delinsTATATA) c.1981+7_1981+12delinsTATATA (n.1981+7_1981+12delinsTATATA) c.2122+7_2122+12delinsTATATA (n.2122+7_2122+12delinsTATATA) | |
14 | g.50153059A>G | CA2575520455 | SOS2 | c.2161+11T>C (n.2161+11T>C) c.2062+11T>C (n.2062+11T>C) c.1981+11T>C (n.1981+11T>C) c.2122+11T>C (n.2122+11T>C) | |
14 | g.50153059A>T | CA2624771444 | SOS2 | c.2161+11T>A (n.2161+11T>A) c.2062+11T>A (n.2062+11T>A) c.1981+11T>A (n.1981+11T>A) c.2122+11T>A (n.2122+11T>A) | gnomAD v4 |
14 | g.50153064_50153068del | CA7177120 | SOS2 | c.2161+7_2161+11del (n.2161+7_2161+11del) c.2062+7_2062+11del (n.2062+7_2062+11del) c.1981+7_1981+11del (n.1981+7_1981+11del) c.2122+7_2122+11del (n.2122+7_2122+11del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50153060T>A | CA2575520456 | SOS2 | c.2161+10A>T (n.2161+10A>T) c.2062+10A>T (n.2062+10A>T) c.1981+10A>T (n.1981+10A>T) c.2122+10A>T (n.2122+10A>T) | |
14 | g.50153060T>C | CA260731650 | SOS2 | c.2161+10A>G (n.2161+10A>G) c.2062+10A>G (n.2062+10A>G) c.1981+10A>G (n.1981+10A>G) c.2122+10A>G (n.2122+10A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50153060T= | CA2136066058 | SOS2 | c.2161+10A= (n.2161+10A=) c.2062+10A= (n.2062+10A=) c.1981+10A= (n.1981+10A=) c.2122+10A= (n.2122+10A=) | |
14 | g.50153061A>G | CA2624771447 | SOS2 | c.2161+9T>C (n.2161+9T>C) c.2062+9T>C (n.2062+9T>C) c.1981+9T>C (n.1981+9T>C) c.2122+9T>C (n.2122+9T>C) | gnomAD v4 |
14 | g.50153062T>A | CA2624771448 | SOS2 | c.2161+8A>T (n.2161+8A>T) c.2062+8A>T (n.2062+8A>T) c.1981+8A>T (n.1981+8A>T) c.2122+8A>T (n.2122+8A>T) | gnomAD v4 |
14 | g.50153062T>C | CA2624771449 | SOS2 | c.2161+8A>G (n.2161+8A>G) c.2062+8A>G (n.2062+8A>G) c.1981+8A>G (n.1981+8A>G) c.2122+8A>G (n.2122+8A>G) | gnomAD v4 |
14 | g.50153063A>G | CA2624771451 | SOS2 | c.2161+7T>C (n.2161+7T>C) c.2062+7T>C (n.2062+7T>C) c.1981+7T>C (n.1981+7T>C) c.2122+7T>C (n.2122+7T>C) | gnomAD v4 |
14 | g.50153064A>G | CA2624771454 | SOS2 | c.2161+6T>C (n.2161+6T>C) c.2062+6T>C (n.2062+6T>C) c.1981+6T>C (n.1981+6T>C) c.2122+6T>C (n.2122+6T>C) | gnomAD v4 |
14 | g.50153065T>C | CA613848295 | SOS2 | c.2161+5A>G (n.2161+5A>G) c.2062+5A>G (n.2062+5A>G) c.1981+5A>G (n.1981+5A>G) c.2122+5A>G (n.2122+5A>G) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50153065T= | CA2136066059 | SOS2 | c.2161+5A= (n.2161+5A=) c.2062+5A= (n.2062+5A=) c.1981+5A= (n.1981+5A=) c.2122+5A= (n.2122+5A=) | |
14 | g.50153066A= | CA2136066060 | SOS2 | c.2161+4T= (n.2161+4T=) c.2062+4T= (n.2062+4T=) c.1981+4T= (n.1981+4T=) c.2122+4T= (n.2122+4T=) | |
14 | g.50153066A>G | CA2136066061 | SOS2 | c.2161+4T>C (n.2161+4T>C) c.2062+4T>C (n.2062+4T>C) c.1981+4T>C (n.1981+4T>C) c.2122+4T>C (n.2122+4T>C) | dbSNP gnomAD v4 |
14 | g.50153067T>C | CA2624771459 | SOS2 | c.2161+3A>G (n.2161+3A>G) c.2062+3A>G (n.2062+3A>G) c.1981+3A>G (n.1981+3A>G) c.2122+3A>G (n.2122+3A>G) | gnomAD v4 |
14 | g.50153068A>C | CA389644075 | SOS2 | c.2161+2T>G (n.2161+2T>G) c.2062+2T>G (n.2062+2T>G) c.1981+2T>G (n.1981+2T>G) c.2122+2T>G (n.2122+2T>G) | |
14 | g.50153068A>G | CA389644077 | SOS2 | c.2161+2T>C (n.2161+2T>C) c.2062+2T>C (n.2062+2T>C) c.1981+2T>C (n.1981+2T>C) c.2122+2T>C (n.2122+2T>C) | gnomAD v4 |
14 | g.50153068A>T | CA389644076 | SOS2 | c.2161+2T>A (n.2161+2T>A) c.2062+2T>A (n.2062+2T>A) c.1981+2T>A (n.1981+2T>A) c.2122+2T>A (n.2122+2T>A) | |
14 | g.50153069C>A | CA389644078 | SOS2 | c.2161+1G>T (n.2161+1G>T) c.2062+1G>T (n.2062+1G>T) c.1981+1G>T (n.1981+1G>T) c.2122+1G>T (n.2122+1G>T) | |
14 | g.50153069C>G | CA389644079 | SOS2 | c.2161+1G>C (n.2161+1G>C) c.2062+1G>C (n.2062+1G>C) c.1981+1G>C (n.1981+1G>C) c.2122+1G>C (n.2122+1G>C) | |
14 | g.50153069C>T | CA389644080 | SOS2 | c.2161+1G>A (n.2161+1G>A) c.2062+1G>A (n.2062+1G>A) c.1981+1G>A (n.1981+1G>A) c.2122+1G>A (n.2122+1G>A) | |
14 | g.50153070C>A | CA389644081 | SOS2 | c.2161G>T (p.Gly721Trp) c.2062G>T (p.Gly688Trp) c.1981G>T (p.Gly661Trp) c.2122G>T (p.Gly708Trp) | |
14 | g.50153070C>G | CA389644082 | SOS2 | c.2161G>C (p.Gly721Arg) c.2062G>C (p.Gly688Arg) c.1981G>C (p.Gly661Arg) c.2122G>C (p.Gly708Arg) | |
14 | g.50153070C>T | CA389644083 | SOS2 | c.2161G>A (p.Gly721Arg) c.2062G>A (p.Gly688Arg) c.1981G>A (p.Gly661Arg) c.2122G>A (p.Gly708Arg) | gnomAD v4 |
14 | g.50153071T>A | CA389644084 | SOS2 | c.2160A>T (p.Arg720Ser) c.2061A>T (p.Arg687Ser) c.1980A>T (p.Arg660Ser) c.2121A>T (p.Arg707Ser) | |
14 | g.50153071T>C | CA486175107 | SOS2 | c.2160A>G (p.Arg720=) c.2061A>G (p.Arg687=) c.1980A>G (p.Arg660=) c.2121A>G (p.Arg707=) | gnomAD v4 |
14 | g.50153071T>G | CA389644085 | SOS2 | c.2160A>C (p.Arg720Ser) c.2061A>C (p.Arg687Ser) c.1980A>C (p.Arg660Ser) c.2121A>C (p.Arg707Ser) | |
14 | g.50153072C>A | CA389644086 | SOS2 | c.2159G>T (p.Arg720Ile) c.2060G>T (p.Arg687Ile) c.1979G>T (p.Arg660Ile) c.2120G>T (p.Arg707Ile) | gnomAD v4 |
14 | g.50153072C>G | CA389644087 | SOS2 | c.2159G>C (p.Arg720Thr) c.2060G>C (p.Arg687Thr) c.1979G>C (p.Arg660Thr) c.2120G>C (p.Arg707Thr) | |
14 | g.50153072C>T | CA389644088 | SOS2 | c.2159G>A (p.Arg720Lys) c.2060G>A (p.Arg687Lys) c.1979G>A (p.Arg660Lys) c.2120G>A (p.Arg707Lys) | |
14 | g.50153073T>A | CA389644089 | SOS2 | c.2158A>T (p.Arg720Ter) c.2059A>T (p.Arg687Ter) c.1978A>T (p.Arg660Ter) c.2119A>T (p.Arg707Ter) | |
14 | g.50153073T>C | CA389644090 | SOS2 | c.2158A>G (p.Arg720Gly) c.2059A>G (p.Arg687Gly) c.1978A>G (p.Arg660Gly) c.2119A>G (p.Arg707Gly) | gnomAD v4 |
14 | g.50153073T>G | CA486175108 | SOS2 | c.2158A>C (p.Arg720=) c.2059A>C (p.Arg687=) c.1978A>C (p.Arg660=) c.2119A>C (p.Arg707=) | |
14 | g.50153074del | CA2624771463 | SOS2 | c.2158del (p.Arg720GlufsTer5) c.2059del (p.Arg687GlufsTer5) c.1978del (p.Arg660GlufsTer5) c.2119del (p.Arg707GlufsTer5) | gnomAD v4 |
14 | g.50153074T>A | CA486175109 | SOS2 | c.2157A>T (p.Val719=) c.2058A>T (p.Val686=) c.1977A>T (p.Val659=) c.2118A>T (p.Val706=) | |
14 | g.50153074T>C | CA486175110 | SOS2 | c.2157A>G (p.Val719=) c.2058A>G (p.Val686=) c.1977A>G (p.Val659=) c.2118A>G (p.Val706=) | gnomAD v4 |
14 | g.50153074T>G | CA486175111 | SOS2 | c.2157A>C (p.Val719=) c.2058A>C (p.Val686=) c.1977A>C (p.Val659=) c.2118A>C (p.Val706=) | dbSNP |
14 | g.50153075A>C | CA389644093 | SOS2 | c.2156T>G (p.Val719Gly) c.2057T>G (p.Val686Gly) c.1976T>G (p.Val659Gly) c.2117T>G (p.Val706Gly) | |
14 | g.50153075A>G | CA389644091 | SOS2 | c.2156T>C (p.Val719Ala) c.2057T>C (p.Val686Ala) c.1976T>C (p.Val659Ala) c.2117T>C (p.Val706Ala) | |
14 | g.50153075A>T | CA389644092 | SOS2 | c.2156T>A (p.Val719Glu) c.2057T>A (p.Val686Glu) c.1976T>A (p.Val659Glu) c.2117T>A (p.Val706Glu) | |
14 | g.50153076C>A | CA389644094 | SOS2 | c.2155G>T (p.Val719Leu) c.2056G>T (p.Val686Leu) c.1975G>T (p.Val659Leu) c.2116G>T (p.Val706Leu) | gnomAD v4 |
14 | g.50153076C= | CA2136066062 | SOS2 | c.2155G= (p.Val719=) c.2056G= (p.Val686=) c.1975G= (p.Val659=) c.2116G= (p.Val706=) | |
14 | g.50153076C>G | CA389644095 | SOS2 | c.2155G>C (p.Val719Leu) c.2056G>C (p.Val686Leu) c.1975G>C (p.Val659Leu) c.2116G>C (p.Val706Leu) | COSMIC COSMIC |
14 | g.50153076C>T | CA389644096 | SOS2 | c.2155G>A (p.Val719Ile) c.2056G>A (p.Val686Ile) c.1975G>A (p.Val659Ile) c.2116G>A (p.Val706Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.50153077A= | CA2136066063 | SOS2 | c.2154T= (p.Ser718=) c.2055T= (p.Ser685=) c.1974T= (p.Ser658=) c.2115T= (p.Ser705=) | |
14 | g.50153077A>C | CA389644097 | SOS2 | c.2154T>G (p.Ser718Arg) c.2055T>G (p.Ser685Arg) c.1974T>G (p.Ser658Arg) c.2115T>G (p.Ser705Arg) | |
14 | g.50153077A>G | CA7177121 | SOS2 | c.2154T>C (p.Ser718=) c.2055T>C (p.Ser685=) c.1974T>C (p.Ser658=) c.2115T>C (p.Ser705=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50153077A>T | CA389644098 | SOS2 | c.2154T>A (p.Ser718Arg) c.2055T>A (p.Ser685Arg) c.1974T>A (p.Ser658Arg) c.2115T>A (p.Ser705Arg) | |
14 | g.50153078C>A | CA389644099 | SOS2 | c.2153G>T (p.Ser718Ile) c.2054G>T (p.Ser685Ile) c.1973G>T (p.Ser658Ile) c.2114G>T (p.Ser705Ile) | |
14 | g.50153078C>G | CA389644100 | SOS2 | c.2153G>C (p.Ser718Thr) c.2054G>C (p.Ser685Thr) c.1973G>C (p.Ser658Thr) c.2114G>C (p.Ser705Thr) | |
14 | g.50153078C>T | CA389644101 | SOS2 | c.2153G>A (p.Ser718Asn) c.2054G>A (p.Ser685Asn) c.1973G>A (p.Ser658Asn) c.2114G>A (p.Ser705Asn) | |
14 | g.50153079T>A | CA389644102 | SOS2 | c.2152A>T (p.Ser718Cys) c.2053A>T (p.Ser685Cys) c.1972A>T (p.Ser658Cys) c.2113A>T (p.Ser705Cys) | |
14 | g.50153079T>C | CA389644103 | SOS2 | c.2152A>G (p.Ser718Gly) c.2053A>G (p.Ser685Gly) c.1972A>G (p.Ser658Gly) c.2113A>G (p.Ser705Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50153079T>G | CA389644104 | SOS2 | c.2152A>C (p.Ser718Arg) c.2053A>C (p.Ser685Arg) c.1972A>C (p.Ser658Arg) c.2113A>C (p.Ser705Arg) | |
14 | g.50153079T= | CA2136066064 | SOS2 | c.2152A= (p.Ser718=) c.2053A= (p.Ser685=) c.1972A= (p.Ser658=) c.2113A= (p.Ser705=) | |
14 | g.50153080T>A | CA486175112 | SOS2 | c.2151A>T (p.Ser717=) c.2052A>T (p.Ser684=) c.1971A>T (p.Ser657=) c.2112A>T (p.Ser704=) | |
14 | g.50153080T>C | CA486175114 | SOS2 | c.2151A>G (p.Ser717=) c.2052A>G (p.Ser684=) c.1971A>G (p.Ser657=) c.2112A>G (p.Ser704=) | gnomAD v4 |
14 | g.50153080T>G | CA486175113 | SOS2 | c.2151A>C (p.Ser717=) c.2052A>C (p.Ser684=) c.1971A>C (p.Ser657=) c.2112A>C (p.Ser704=) | |
14 | g.50153081G>A | CA389644105 | SOS2 | c.2150C>T (p.Ser717Leu) c.2051C>T (p.Ser684Leu) c.1970C>T (p.Ser657Leu) c.2111C>T (p.Ser704Leu) | gnomAD v4 |
14 | g.50153081G>C | CA389644107 | SOS2 | c.2150C>G (p.Ser717Ter) c.2051C>G (p.Ser684Ter) c.1970C>G (p.Ser657Ter) c.2111C>G (p.Ser704Ter) | |
14 | g.50153081G>T | CA389644106 | SOS2 | c.2150C>A (p.Ser717Ter) c.2051C>A (p.Ser684Ter) c.1970C>A (p.Ser657Ter) c.2111C>A (p.Ser704Ter) | gnomAD v4 |
14 | g.50153082A>C | CA389644108 | SOS2 | c.2149T>G (p.Ser717Ala) c.2050T>G (p.Ser684Ala) c.1969T>G (p.Ser657Ala) c.2110T>G (p.Ser704Ala) | |
14 | g.50153082A>G | CA389644109 | SOS2 | c.2149T>C (p.Ser717Pro) c.2050T>C (p.Ser684Pro) c.1969T>C (p.Ser657Pro) c.2110T>C (p.Ser704Pro) | gnomAD v4 |
14 | g.50153082A>T | CA389644110 | SOS2 | c.2149T>A (p.Ser717Thr) c.2050T>A (p.Ser684Thr) c.1969T>A (p.Ser657Thr) c.2110T>A (p.Ser704Thr) | |
14 | g.50153083A>C | CA389644111 | SOS2 | c.2148T>G (p.Ile716Met) c.2049T>G (p.Ile683Met) c.1968T>G (p.Ile656Met) c.2109T>G (p.Ile703Met) | ClinVar gnomAD v4 |
14 | g.50153083A>G | CA486175115 | SOS2 | c.2148T>C (p.Ile716=) c.2049T>C (p.Ile683=) c.1968T>C (p.Ile656=) c.2109T>C (p.Ile703=) | gnomAD v4 |
14 | g.50153083A>T | CA486175116 | SOS2 | c.2148T>A (p.Ile716=) c.2049T>A (p.Ile683=) c.1968T>A (p.Ile656=) c.2109T>A (p.Ile703=) | |
14 | g.50153084A>C | CA389644112 | SOS2 | c.2147T>G (p.Ile716Ser) c.2048T>G (p.Ile683Ser) c.1967T>G (p.Ile656Ser) c.2108T>G (p.Ile703Ser) | |
14 | g.50153084A>G | CA389644113 | SOS2 | c.2147T>C (p.Ile716Thr) c.2048T>C (p.Ile683Thr) c.1967T>C (p.Ile656Thr) c.2108T>C (p.Ile703Thr) | |
14 | g.50153084A>T | CA389644114 | SOS2 | c.2147T>A (p.Ile716Asn) c.2048T>A (p.Ile683Asn) c.1967T>A (p.Ile656Asn) c.2108T>A (p.Ile703Asn) | |
14 | g.50153085T>A | CA389644116 | SOS2 | c.2146A>T (p.Ile716Phe) c.2047A>T (p.Ile683Phe) c.1966A>T (p.Ile656Phe) c.2107A>T (p.Ile703Phe) | |
14 | g.50153085T>C | CA389644115 | SOS2 | c.2146A>G (p.Ile716Val) c.2047A>G (p.Ile683Val) c.1966A>G (p.Ile656Val) c.2107A>G (p.Ile703Val) | gnomAD v4 |
14 | g.50153085T>G | CA7177122 | SOS2 | c.2146A>C (p.Ile716Leu) c.2047A>C (p.Ile683Leu) c.1966A>C (p.Ile656Leu) c.2107A>C (p.Ile703Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50153085T= | CA2136066065 | SOS2 | c.2146A= (p.Ile716=) c.2047A= (p.Ile683=) c.1966A= (p.Ile656=) c.2107A= (p.Ile703=) | |
14 | g.50153086G>A | CA486175117 | SOS2 | c.2145C>T (p.Phe715=) c.2046C>T (p.Phe682=) c.1965C>T (p.Phe655=) c.2106C>T (p.Phe702=) | |
14 | g.50153086G>C | CA389644117 | SOS2 | c.2145C>G (p.Phe715Leu) c.2046C>G (p.Phe682Leu) c.1965C>G (p.Phe655Leu) c.2106C>G (p.Phe702Leu) | |
14 | g.50153086G>T | CA389644118 | SOS2 | c.2145C>A (p.Phe715Leu) c.2046C>A (p.Phe682Leu) c.1965C>A (p.Phe655Leu) c.2106C>A (p.Phe702Leu) | gnomAD v4 |
14 | g.50153087A>C | CA389644119 | SOS2 | c.2144T>G (p.Phe715Cys) c.2045T>G (p.Phe682Cys) c.1964T>G (p.Phe655Cys) c.2105T>G (p.Phe702Cys) | |
14 | g.50153087A>G | CA389644120 | SOS2 | c.2144T>C (p.Phe715Ser) c.2045T>C (p.Phe682Ser) c.1964T>C (p.Phe655Ser) c.2105T>C (p.Phe702Ser) | |
14 | g.50153087A>T | CA389644121 | SOS2 | c.2144T>A (p.Phe715Tyr) c.2045T>A (p.Phe682Tyr) c.1964T>A (p.Phe655Tyr) c.2105T>A (p.Phe702Tyr) | gnomAD v4 |
14 | g.50153088A>C | CA389644122 | SOS2 | c.2143T>G (p.Phe715Val) c.2044T>G (p.Phe682Val) c.1963T>G (p.Phe655Val) c.2104T>G (p.Phe702Val) | |
14 | g.50153088A>G | CA389644124 | SOS2 | c.2143T>C (p.Phe715Leu) c.2044T>C (p.Phe682Leu) c.1963T>C (p.Phe655Leu) c.2104T>C (p.Phe702Leu) | gnomAD v4 |
14 | g.50153088A>T | CA389644123 | SOS2 | c.2143T>A (p.Phe715Ile) c.2044T>A (p.Phe682Ile) c.1963T>A (p.Phe655Ile) c.2104T>A (p.Phe702Ile) | |
14 | g.50153089G>A | CA486175118 | SOS2 | c.2142C>T (p.Ser714=) c.2043C>T (p.Ser681=) c.1962C>T (p.Ser654=) c.2103C>T (p.Ser701=) | |
14 | g.50153089G>C | CA486175119 | SOS2 | c.2142C>G (p.Ser714=) c.2043C>G (p.Ser681=) c.1962C>G (p.Ser654=) c.2103C>G (p.Ser701=) | |
14 | g.50153089G>T | CA486175120 | SOS2 | c.2142C>A (p.Ser714=) c.2043C>A (p.Ser681=) c.1962C>A (p.Ser654=) c.2103C>A (p.Ser701=) | gnomAD v4 |
14 | g.50153090G>A | CA389644125 | SOS2 | c.2141C>T (p.Ser714Phe) c.2042C>T (p.Ser681Phe) c.1961C>T (p.Ser654Phe) c.2102C>T (p.Ser701Phe) | |
14 | g.50153090G>C | CA389644126 | SOS2 | c.2141C>G (p.Ser714Cys) c.2042C>G (p.Ser681Cys) c.1961C>G (p.Ser654Cys) c.2102C>G (p.Ser701Cys) | |
14 | g.50153090G>T | CA389644127 | SOS2 | c.2141C>A (p.Ser714Tyr) c.2042C>A (p.Ser681Tyr) c.1961C>A (p.Ser654Tyr) c.2102C>A (p.Ser701Tyr) | gnomAD v4 |
14 | g.50153091A>C | CA389644128 | SOS2 | c.2140T>G (p.Ser714Ala) c.2041T>G (p.Ser681Ala) c.1960T>G (p.Ser654Ala) c.2101T>G (p.Ser701Ala) | |
14 | g.50153091A>G | CA389644129 | SOS2 | c.2140T>C (p.Ser714Pro) c.2041T>C (p.Ser681Pro) c.1960T>C (p.Ser654Pro) c.2101T>C (p.Ser701Pro) | |
14 | g.50153091A>T | CA389644130 | SOS2 | c.2140T>A (p.Ser714Thr) c.2041T>A (p.Ser681Thr) c.1960T>A (p.Ser654Thr) c.2101T>A (p.Ser701Thr) | |
14 | g.50153092T>A | CA389644131 | SOS2 | c.2139A>T (p.Glu713Asp) c.2040A>T (p.Glu680Asp) c.1959A>T (p.Glu653Asp) c.2100A>T (p.Glu700Asp) | |
14 | g.50153092T>C | CA486175121 | SOS2 | c.2139A>G (p.Glu713=) c.2040A>G (p.Glu680=) c.1959A>G (p.Glu653=) c.2100A>G (p.Glu700=) | gnomAD v4 |
14 | g.50153092T>G | CA389644132 | SOS2 | c.2139A>C (p.Glu713Asp) c.2040A>C (p.Glu680Asp) c.1959A>C (p.Glu653Asp) c.2100A>C (p.Glu700Asp) | |
14 | g.50153093T>A | CA389644133 | SOS2 | c.2138A>T (p.Glu713Val) c.2039A>T (p.Glu680Val) c.1958A>T (p.Glu653Val) c.2099A>T (p.Glu700Val) | |
14 | g.50153093T>C | CA389644134 | SOS2 | c.2138A>G (p.Glu713Gly) c.2039A>G (p.Glu680Gly) c.1958A>G (p.Glu653Gly) c.2099A>G (p.Glu700Gly) | gnomAD v4 |
14 | g.50153093T>G | CA389644135 | SOS2 | c.2138A>C (p.Glu713Ala) c.2039A>C (p.Glu680Ala) c.1958A>C (p.Glu653Ala) c.2099A>C (p.Glu700Ala) | |
14 | g.50153094C>A | CA389644136 | SOS2 | c.2137G>T (p.Glu713Ter) c.2038G>T (p.Glu680Ter) c.1957G>T (p.Glu653Ter) c.2098G>T (p.Glu700Ter) | |
14 | g.50153094C= | CA2136066066 | SOS2 | c.2137G= (p.Glu713=) c.2038G= (p.Glu680=) c.1957G= (p.Glu653=) c.2098G= (p.Glu700=) | |
14 | g.50153094C>G | CA7177123 | SOS2 | c.2137G>C (p.Glu713Gln) c.2038G>C (p.Glu680Gln) c.1957G>C (p.Glu653Gln) c.2098G>C (p.Glu700Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50153094C>T | CA389644137 | SOS2 | c.2137G>A (p.Glu713Lys) c.2038G>A (p.Glu680Lys) c.1957G>A (p.Glu653Lys) c.2098G>A (p.Glu700Lys) | |
14 | g.50153095T>A | CA486175122 | SOS2 | c.2136A>T (p.Leu712=) c.2037A>T (p.Leu679=) c.1956A>T (p.Leu652=) c.2097A>T (p.Leu699=) | |
14 | g.50153095T>C | CA7177124 | SOS2 | c.2136A>G (p.Leu712=) c.2037A>G (p.Leu679=) c.1956A>G (p.Leu652=) c.2097A>G (p.Leu699=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50153095T>G | CA486175123 | SOS2 | c.2136A>C (p.Leu712=) c.2037A>C (p.Leu679=) c.1956A>C (p.Leu652=) c.2097A>C (p.Leu699=) | |
14 | g.50153095T= | CA2136066067 | SOS2 | c.2136A= (p.Leu712=) c.2037A= (p.Leu679=) c.1956A= (p.Leu652=) c.2097A= (p.Leu699=) | |
14 | g.50153096A>C | CA389644138 | SOS2 | c.2135T>G (p.Leu712Arg) c.2036T>G (p.Leu679Arg) c.1955T>G (p.Leu652Arg) c.2096T>G (p.Leu699Arg) | |
14 | g.50153096A>G | CA389644139 | SOS2 | c.2135T>C (p.Leu712Pro) c.2036T>C (p.Leu679Pro) c.1955T>C (p.Leu652Pro) c.2096T>C (p.Leu699Pro) | gnomAD v4 |
14 | g.50153096A>T | CA389644140 | SOS2 | c.2135T>A (p.Leu712Gln) c.2036T>A (p.Leu679Gln) c.1955T>A (p.Leu652Gln) c.2096T>A (p.Leu699Gln) | |
14 | g.50153097G>A | CA486175124 | SOS2 | c.2134C>T (p.Leu712=) c.2035C>T (p.Leu679=) c.1954C>T (p.Leu652=) c.2095C>T (p.Leu699=) | gnomAD v4 |
14 | g.50153097G>C | CA389644141 | SOS2 | c.2134C>G (p.Leu712Val) c.2035C>G (p.Leu679Val) c.1954C>G (p.Leu652Val) c.2095C>G (p.Leu699Val) | |
14 | g.50153097G>T | CA389644142 | SOS2 | c.2134C>A (p.Leu712Ile) c.2035C>A (p.Leu679Ile) c.1954C>A (p.Leu652Ile) c.2095C>A (p.Leu699Ile) | gnomAD v4 |
14 | g.50153098T>A | CA389644143 | SOS2 | c.2133A>T (p.Arg711Ser) c.2034A>T (p.Arg678Ser) c.1953A>T (p.Arg651Ser) c.2094A>T (p.Arg698Ser) | |
14 | g.50153098T>C | CA486175125 | SOS2 | c.2133A>G (p.Arg711=) c.2034A>G (p.Arg678=) c.1953A>G (p.Arg651=) c.2094A>G (p.Arg698=) | dbSNP gnomAD v4 |
14 | g.50153098T>G | CA389644144 | SOS2 | c.2133A>C (p.Arg711Ser) c.2034A>C (p.Arg678Ser) c.1953A>C (p.Arg651Ser) c.2094A>C (p.Arg698Ser) | |
14 | g.50153099C>A | CA389644145 | SOS2 | c.2132G>T (p.Arg711Ile) c.2033G>T (p.Arg678Ile) c.1952G>T (p.Arg651Ile) c.2093G>T (p.Arg698Ile) | |
14 | g.50153099C= | CA2136066068 | SOS2 | c.2132G= (p.Arg711=) c.2033G= (p.Arg678=) c.1952G= (p.Arg651=) c.2093G= (p.Arg698=) | |
14 | g.50153099C>G | CA260731659 | SOS2 | c.2132G>C (p.Arg711Thr) c.2033G>C (p.Arg678Thr) c.1952G>C (p.Arg651Thr) c.2093G>C (p.Arg698Thr) | dbSNP |
14 | g.50153099C>T | CA389644146 | SOS2 | c.2132G>A (p.Arg711Lys) c.2033G>A (p.Arg678Lys) c.1952G>A (p.Arg651Lys) c.2093G>A (p.Arg698Lys) | |
14 | g.50153100T>A | CA389644147 | SOS2 | c.2131A>T (p.Arg711Ter) c.2032A>T (p.Arg678Ter) c.1951A>T (p.Arg651Ter) c.2092A>T (p.Arg698Ter) | |
14 | g.50153100T>C | CA389644148 | SOS2 | c.2131A>G (p.Arg711Gly) c.2032A>G (p.Arg678Gly) c.1951A>G (p.Arg651Gly) c.2092A>G (p.Arg698Gly) | |
14 | g.50153100T>G | CA486175126 | SOS2 | c.2131A>C (p.Arg711=) c.2032A>C (p.Arg678=) c.1951A>C (p.Arg651=) c.2092A>C (p.Arg698=) | |
14 | g.50153101T>A | CA389644149 | SOS2 | c.2130A>T (p.Glu710Asp) c.2031A>T (p.Glu677Asp) c.1950A>T (p.Glu650Asp) c.2091A>T (p.Glu697Asp) | |
14 | g.50153101T>C | CA486175127 | SOS2 | c.2130A>G (p.Glu710=) c.2031A>G (p.Glu677=) c.1950A>G (p.Glu650=) c.2091A>G (p.Glu697=) | |
14 | g.50153101T>G | CA389644150 | SOS2 | c.2130A>C (p.Glu710Asp) c.2031A>C (p.Glu677Asp) c.1950A>C (p.Glu650Asp) c.2091A>C (p.Glu697Asp) | |
14 | g.50153102T>A | CA389644151 | SOS2 | c.2129A>T (p.Glu710Val) c.2030A>T (p.Glu677Val) c.1949A>T (p.Glu650Val) c.2090A>T (p.Glu697Val) | |
14 | g.50153102T>C | CA260731664 | SOS2 | c.2129A>G (p.Glu710Gly) c.2030A>G (p.Glu677Gly) c.1949A>G (p.Glu650Gly) c.2090A>G (p.Glu697Gly) | dbSNP gnomAD v4 |
14 | g.50153102T>G | CA389644152 | SOS2 | c.2129A>C (p.Glu710Ala) c.2030A>C (p.Glu677Ala) c.1949A>C (p.Glu650Ala) c.2090A>C (p.Glu697Ala) | |
14 | g.50153102T= | CA2136066069 | SOS2 | c.2129A= (p.Glu710=) c.2030A= (p.Glu677=) c.1949A= (p.Glu650=) c.2090A= (p.Glu697=) | |
14 | g.50153103C>A | CA389644153 | SOS2 | c.2128G>T (p.Glu710Ter) c.2029G>T (p.Glu677Ter) c.1948G>T (p.Glu650Ter) c.2089G>T (p.Glu697Ter) | |
14 | g.50153103C= | CA2136066070 | SOS2 | c.2128G= (p.Glu710=) c.2029G= (p.Glu677=) c.1948G= (p.Glu650=) c.2089G= (p.Glu697=) | |
14 | g.50153103C>G | CA7177125 | SOS2 | c.2128G>C (p.Glu710Gln) c.2029G>C (p.Glu677Gln) c.1948G>C (p.Glu650Gln) c.2089G>C (p.Glu697Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50153103C>T | CA389644154 | SOS2 | c.2128G>A (p.Glu710Lys) c.2029G>A (p.Glu677Lys) c.1948G>A (p.Glu650Lys) c.2089G>A (p.Glu697Lys) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50153104A>C | CA486175128 | SOS2 | c.2127T>G (p.Leu709=) c.2028T>G (p.Leu676=) c.1947T>G (p.Leu649=) c.2088T>G (p.Leu696=) | |
14 | g.50153104A>G | CA486175129 | SOS2 | c.2127T>C (p.Leu709=) c.2028T>C (p.Leu676=) c.1947T>C (p.Leu649=) c.2088T>C (p.Leu696=) | gnomAD v4 |
14 | g.50153104A>T | CA486175130 | SOS2 | c.2127T>A (p.Leu709=) c.2028T>A (p.Leu676=) c.1947T>A (p.Leu649=) c.2088T>A (p.Leu696=) | |
14 | g.50153105del | CA2575520457 | SOS2 | c.2127del (p.Glu710LysfsTer3) c.2028del (p.Glu677LysfsTer3) c.1947del (p.Glu650LysfsTer3) c.2088del (p.Glu697LysfsTer3) | |
14 | g.50153105A>C | CA389644155 | SOS2 | c.2126T>G (p.Leu709Arg) c.2027T>G (p.Leu676Arg) c.1946T>G (p.Leu649Arg) c.2087T>G (p.Leu696Arg) | |
14 | g.50153105A>G | CA389644156 | SOS2 | c.2126T>C (p.Leu709Pro) c.2027T>C (p.Leu676Pro) c.1946T>C (p.Leu649Pro) c.2087T>C (p.Leu696Pro) | gnomAD v4 |
14 | g.50153105A>T | CA389644157 | SOS2 | c.2126T>A (p.Leu709His) c.2027T>A (p.Leu676His) c.1946T>A (p.Leu649His) c.2087T>A (p.Leu696His) | |
14 | g.50153106G>A | CA389644158 | SOS2 | c.2125C>T (p.Leu709Phe) c.2026C>T (p.Leu676Phe) c.1945C>T (p.Leu649Phe) c.2086C>T (p.Leu696Phe) | |
14 | g.50153106G>C | CA389644159 | SOS2 | c.2125C>G (p.Leu709Val) c.2026C>G (p.Leu676Val) c.1945C>G (p.Leu649Val) c.2086C>G (p.Leu696Val) | |
14 | g.50153106G>T | CA389644160 | SOS2 | c.2125C>A (p.Leu709Ile) c.2026C>A (p.Leu676Ile) c.1945C>A (p.Leu649Ile) c.2086C>A (p.Leu696Ile) | gnomAD v4 |
14 | g.50153107C>A | CA389644161 | SOS2 | c.2124G>T (p.Leu708Phe) c.2025G>T (p.Leu675Phe) c.1944G>T (p.Leu648Phe) c.2085G>T (p.Leu695Phe) | |
14 | g.50153107C>G | CA389644162 | SOS2 | c.2124G>C (p.Leu708Phe) c.2025G>C (p.Leu675Phe) c.1944G>C (p.Leu648Phe) c.2085G>C (p.Leu695Phe) | gnomAD v4 |
14 | g.50153107C>T | CA486175131 | SOS2 | c.2124G>A (p.Leu708=) c.2025G>A (p.Leu675=) c.1944G>A (p.Leu648=) c.2085G>A (p.Leu695=) | gnomAD v4 |
14 | g.50153108A>C | CA389644163 | SOS2 | c.2123T>G (p.Leu708Trp) c.2024T>G (p.Leu675Trp) c.1943T>G (p.Leu648Trp) c.2084T>G (p.Leu695Trp) | |
14 | g.50153108A>G | CA389644164 | SOS2 | c.2123T>C (p.Leu708Ser) c.2024T>C (p.Leu675Ser) c.1943T>C (p.Leu648Ser) c.2084T>C (p.Leu695Ser) | |
14 | g.50153108A>T | CA389644165 | SOS2 | c.2123T>A (p.Leu708Ter) c.2024T>A (p.Leu675Ter) c.1943T>A (p.Leu648Ter) c.2084T>A (p.Leu695Ter) | |
14 | g.50153109A>C | CA389644166 | SOS2 | c.2122T>G (p.Leu708Val) c.2023T>G (p.Leu675Val) c.1942T>G (p.Leu648Val) c.2083T>G (p.Leu695Val) | |
14 | g.50153109A>G | CA486175132 | SOS2 | c.2122T>C (p.Leu708=) c.2023T>C (p.Leu675=) c.1942T>C (p.Leu648=) c.2083T>C (p.Leu695=) | |
14 | g.50153109A>T | CA389644167 | SOS2 | c.2122T>A (p.Leu708Met) c.2023T>A (p.Leu675Met) c.1942T>A (p.Leu648Met) c.2083T>A (p.Leu695Met) | |
14 | g.50153110T>A | CA389644168 | SOS2 | c.2121A>T (p.Glu707Asp) c.2022A>T (p.Glu674Asp) c.1941A>T (p.Glu647Asp) c.2082A>T (p.Glu694Asp) | |
14 | g.50153110T>C | CA486175133 | SOS2 | c.2121A>G (p.Glu707=) c.2022A>G (p.Glu674=) c.1941A>G (p.Glu647=) c.2082A>G (p.Glu694=) | |
14 | g.50153110T>G | CA389644169 | SOS2 | c.2121A>C (p.Glu707Asp) c.2022A>C (p.Glu674Asp) c.1941A>C (p.Glu647Asp) c.2082A>C (p.Glu694Asp) | |
14 | g.50153111T>A | CA389644171 | SOS2 | c.2120A>T (p.Glu707Val) c.2021A>T (p.Glu674Val) c.1940A>T (p.Glu647Val) c.2081A>T (p.Glu694Val) | |
14 | g.50153111T>C | CA7177126 | SOS2 | c.2120A>G (p.Glu707Gly) c.2021A>G (p.Glu674Gly) c.1940A>G (p.Glu647Gly) c.2081A>G (p.Glu694Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50153111T>G | CA389644170 | SOS2 | c.2120A>C (p.Glu707Ala) c.2021A>C (p.Glu674Ala) c.1940A>C (p.Glu647Ala) c.2081A>C (p.Glu694Ala) | |
14 | g.50153111T= | CA2136066071 | SOS2 | c.2120A= (p.Glu707=) c.2021A= (p.Glu674=) c.1940A= (p.Glu647=) c.2081A= (p.Glu694=) | |
14 | g.50153112C>A | CA389644172 | SOS2 | c.2119G>T (p.Glu707Ter) c.2020G>T (p.Glu674Ter) c.1939G>T (p.Glu647Ter) c.2080G>T (p.Glu694Ter) | |
14 | g.50153112C>G | CA389644173 | SOS2 | c.2119G>C (p.Glu707Gln) c.2020G>C (p.Glu674Gln) c.1939G>C (p.Glu647Gln) c.2080G>C (p.Glu694Gln) | |
14 | g.50153112C>T | CA389644174 | SOS2 | c.2119G>A (p.Glu707Lys) c.2020G>A (p.Glu674Lys) c.1939G>A (p.Glu647Lys) c.2080G>A (p.Glu694Lys) | |
14 | g.50153113C>A | CA389644175 | SOS2 | c.2118G>T (p.Leu706Phe) c.2019G>T (p.Leu673Phe) c.1938G>T (p.Leu646Phe) c.2079G>T (p.Leu693Phe) | |
14 | g.50153113C>G | CA389644176 | SOS2 | c.2118G>C (p.Leu706Phe) c.2019G>C (p.Leu673Phe) c.1938G>C (p.Leu646Phe) c.2079G>C (p.Leu693Phe) | |
14 | g.50153113C>T | CA486175134 | SOS2 | c.2118G>A (p.Leu706=) c.2019G>A (p.Leu673=) c.1938G>A (p.Leu646=) c.2079G>A (p.Leu693=) | ClinVar dbSNP |
14 | g.50153114A>C | CA389644179 | SOS2 | c.2117T>G (p.Leu706Trp) c.2018T>G (p.Leu673Trp) c.1937T>G (p.Leu646Trp) c.2078T>G (p.Leu693Trp) | |
14 | g.50153114A>G | CA389644177 | SOS2 | c.2117T>C (p.Leu706Ser) c.2018T>C (p.Leu673Ser) c.1937T>C (p.Leu646Ser) c.2078T>C (p.Leu693Ser) | |
14 | g.50153114A>T | CA389644178 | SOS2 | c.2117T>A (p.Leu706Ter) c.2018T>A (p.Leu673Ter) c.1937T>A (p.Leu646Ter) c.2078T>A (p.Leu693Ter) | |
14 | g.50153115A>C | CA389644180 | SOS2 | c.2116T>G (p.Leu706Val) c.2017T>G (p.Leu673Val) c.1936T>G (p.Leu646Val) c.2077T>G (p.Leu693Val) | |
14 | g.50153115A>G | CA486175135 | SOS2 | c.2116T>C (p.Leu706=) c.2017T>C (p.Leu673=) c.1936T>C (p.Leu646=) c.2077T>C (p.Leu693=) | |
14 | g.50153115A>T | CA389644181 | SOS2 | c.2116T>A (p.Leu706Met) c.2017T>A (p.Leu673Met) c.1936T>A (p.Leu646Met) c.2077T>A (p.Leu693Met) | |
14 | g.50153116G>A | CA7177127 | SOS2 | c.2115C>T (p.Asp705=) c.2016C>T (p.Asp672=) c.1935C>T (p.Asp645=) c.2076C>T (p.Asp692=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50153116G>C | CA389644182 | SOS2 | c.2115C>G (p.Asp705Glu) c.2016C>G (p.Asp672Glu) c.1935C>G (p.Asp645Glu) c.2076C>G (p.Asp692Glu) | |
14 | g.50153116G= | CA2136066072 | SOS2 | c.2115C= (p.Asp705=) c.2016C= (p.Asp672=) c.1935C= (p.Asp645=) c.2076C= (p.Asp692=) | |
14 | g.50153116G>T | CA389644183 | SOS2 | c.2115C>A (p.Asp705Glu) c.2016C>A (p.Asp672Glu) c.1935C>A (p.Asp645Glu) c.2076C>A (p.Asp692Glu) | gnomAD v4 |
14 | g.50153117T>A | CA389644184 | SOS2 | c.2114A>T (p.Asp705Val) c.2015A>T (p.Asp672Val) c.1934A>T (p.Asp645Val) c.2075A>T (p.Asp692Val) | |
14 | g.50153117T>C | CA389644185 | SOS2 | c.2114A>G (p.Asp705Gly) c.2015A>G (p.Asp672Gly) c.1934A>G (p.Asp645Gly) c.2075A>G (p.Asp692Gly) | |
14 | g.50153117T>G | CA389644186 | SOS2 | c.2114A>C (p.Asp705Ala) c.2015A>C (p.Asp672Ala) c.1934A>C (p.Asp645Ala) c.2075A>C (p.Asp692Ala) | |
14 | g.50153118C>A | CA16042859 | SOS2 | c.2113G>T (p.Asp705Tyr) c.2014G>T (p.Asp672Tyr) c.1933G>T (p.Asp645Tyr) c.2074G>T (p.Asp692Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.50153118C= | CA2136066073 | SOS2 | c.2113G= (p.Asp705=) c.2014G= (p.Asp672=) c.1933G= (p.Asp645=) c.2074G= (p.Asp692=) | |
14 | g.50153118C>G | CA389644187 | SOS2 | c.2113G>C (p.Asp705His) c.2014G>C (p.Asp672His) c.1933G>C (p.Asp645His) c.2074G>C (p.Asp692His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50153118C>T | CA389644188 | SOS2 | c.2113G>A (p.Asp705Asn) c.2014G>A (p.Asp672Asn) c.1933G>A (p.Asp645Asn) c.2074G>A (p.Asp692Asn) | |
14 | g.50153119T>A | CA389644189 | SOS2 | c.2112A>T (p.Arg704Ser) c.2013A>T (p.Arg671Ser) c.1932A>T (p.Arg644Ser) c.2073A>T (p.Arg691Ser) | |
14 | g.50153119T>C | CA486175136 | SOS2 | c.2112A>G (p.Arg704=) c.2013A>G (p.Arg671=) c.1932A>G (p.Arg644=) c.2073A>G (p.Arg691=) | |
14 | g.50153119T>G | CA389644190 | SOS2 | c.2112A>C (p.Arg704Ser) c.2013A>C (p.Arg671Ser) c.1932A>C (p.Arg644Ser) c.2073A>C (p.Arg691Ser) | gnomAD v4 |
14 | g.50153120C>A | CA389644191 | SOS2 | c.2111G>T (p.Arg704Ile) c.2012G>T (p.Arg671Ile) c.1931G>T (p.Arg644Ile) c.2072G>T (p.Arg691Ile) | |
14 | g.50153120C>G | CA389644193 | SOS2 | c.2111G>C (p.Arg704Thr) c.2012G>C (p.Arg671Thr) c.1931G>C (p.Arg644Thr) c.2072G>C (p.Arg691Thr) | |
14 | g.50153120C>T | CA389644192 | SOS2 | c.2111G>A (p.Arg704Lys) c.2012G>A (p.Arg671Lys) c.1931G>A (p.Arg644Lys) c.2072G>A (p.Arg691Lys) | |
14 | g.50153121T>A | CA389644194 | SOS2 | c.2110A>T (p.Arg704Ter) c.2011A>T (p.Arg671Ter) c.1930A>T (p.Arg644Ter) c.2071A>T (p.Arg691Ter) | |
14 | g.50153121T>C | CA389644195 | SOS2 | c.2110A>G (p.Arg704Gly) c.2011A>G (p.Arg671Gly) c.1930A>G (p.Arg644Gly) c.2071A>G (p.Arg691Gly) | |
14 | g.50153121T>G | CA486175137 | SOS2 | c.2110A>C (p.Arg704=) c.2011A>C (p.Arg671=) c.1930A>C (p.Arg644=) c.2071A>C (p.Arg691=) | |
14 | g.50153122T>A | CA389644196 | SOS2 | c.2109A>T (p.Glu703Asp) c.2010A>T (p.Glu670Asp) c.1929A>T (p.Glu643Asp) c.2070A>T (p.Glu690Asp) | |
14 | g.50153122T>C | CA486175138 | SOS2 | c.2109A>G (p.Glu703=) c.2010A>G (p.Glu670=) c.1929A>G (p.Glu643=) c.2070A>G (p.Glu690=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
14 | g.50153122T>G | CA389644197 | SOS2 | c.2109A>C (p.Glu703Asp) c.2010A>C (p.Glu670Asp) c.1929A>C (p.Glu643Asp) c.2070A>C (p.Glu690Asp) | |
14 | g.50153122T= | CA2136066074 | SOS2 | c.2109A= (p.Glu703=) c.2010A= (p.Glu670=) c.1929A= (p.Glu643=) c.2070A= (p.Glu690=) | |
14 | g.50153123T>A | CA389644198 | SOS2 | c.2108A>T (p.Glu703Val) c.2009A>T (p.Glu670Val) c.1928A>T (p.Glu643Val) c.2069A>T (p.Glu690Val) | |
14 | g.50153123T>C | CA389644199 | SOS2 | c.2108A>G (p.Glu703Gly) c.2009A>G (p.Glu670Gly) c.1928A>G (p.Glu643Gly) c.2069A>G (p.Glu690Gly) | |
14 | g.50153123T>G | CA389644200 | SOS2 | c.2108A>C (p.Glu703Ala) c.2009A>C (p.Glu670Ala) c.1928A>C (p.Glu643Ala) c.2069A>C (p.Glu690Ala) | |
14 | g.50153124C>A | CA389644201 | SOS2 | c.2107G>T (p.Glu703Ter) c.2008G>T (p.Glu670Ter) c.1927G>T (p.Glu643Ter) c.2068G>T (p.Glu690Ter) | gnomAD v4 |
14 | g.50153124C>G | CA389644202 | SOS2 | c.2107G>C (p.Glu703Gln) c.2008G>C (p.Glu670Gln) c.1927G>C (p.Glu643Gln) c.2068G>C (p.Glu690Gln) | |
14 | g.50153124C>T | CA389644203 | SOS2 | c.2107G>A (p.Glu703Lys) c.2008G>A (p.Glu670Lys) c.1927G>A (p.Glu643Lys) c.2068G>A (p.Glu690Lys) | |
14 | g.50153125A= | CA2136066075 | SOS2 | c.2106T= (p.Phe702=) c.2007T= (p.Phe669=) c.1926T= (p.Phe642=) c.2067T= (p.Phe689=) | |
14 | g.50153125A>C | CA389644204 | SOS2 | c.2106T>G (p.Phe702Leu) c.2007T>G (p.Phe669Leu) c.1926T>G (p.Phe642Leu) c.2067T>G (p.Phe689Leu) | |
14 | g.50153125A>G | CA486175139 | SOS2 | c.2106T>C (p.Phe702=) c.2007T>C (p.Phe669=) c.1926T>C (p.Phe642=) c.2067T>C (p.Phe689=) | ClinVar dbSNP gnomAD v4 |
14 | g.50153125A>T | CA389644205 | SOS2 | c.2106T>A (p.Phe702Leu) c.2007T>A (p.Phe669Leu) c.1926T>A (p.Phe642Leu) c.2067T>A (p.Phe689Leu) | |
14 | g.50153126A>C | CA389644207 | SOS2 | c.2105T>G (p.Phe702Cys) c.2006T>G (p.Phe669Cys) c.1925T>G (p.Phe642Cys) c.2066T>G (p.Phe689Cys) | |
14 | g.50153126A>G | CA389644208 | SOS2 | c.2105T>C (p.Phe702Ser) c.2006T>C (p.Phe669Ser) c.1925T>C (p.Phe642Ser) c.2066T>C (p.Phe689Ser) | |
14 | g.50153126A>T | CA389644206 | SOS2 | c.2105T>A (p.Phe702Tyr) c.2006T>A (p.Phe669Tyr) c.1925T>A (p.Phe642Tyr) c.2066T>A (p.Phe689Tyr) | gnomAD v4 |
14 | g.50153127A>C | CA389644209 | SOS2 | c.2104T>G (p.Phe702Val) c.2005T>G (p.Phe669Val) c.1924T>G (p.Phe642Val) c.2065T>G (p.Phe689Val) | |
14 | g.50153127A>G | CA389644210 | SOS2 | c.2104T>C (p.Phe702Leu) c.2005T>C (p.Phe669Leu) c.1924T>C (p.Phe642Leu) c.2065T>C (p.Phe689Leu) | ClinVar dbSNP |
14 | g.50153127A>T | CA389644211 | SOS2 | c.2104T>A (p.Phe702Ile) c.2005T>A (p.Phe669Ile) c.1924T>A (p.Phe642Ile) c.2065T>A (p.Phe689Ile) | |
14 | g.50153128G>A | CA486175140 | SOS2 | c.2103C>T (p.Asp701=) c.2004C>T (p.Asp668=) c.1923C>T (p.Asp641=) c.2064C>T (p.Asp688=) | gnomAD v4 |
14 | g.50153128G>C | CA389644212 | SOS2 | c.2103C>G (p.Asp701Glu) c.2004C>G (p.Asp668Glu) c.1923C>G (p.Asp641Glu) c.2064C>G (p.Asp688Glu) | gnomAD v4 |
14 | g.50153128G>T | CA389644213 | SOS2 | c.2103C>A (p.Asp701Glu) c.2004C>A (p.Asp668Glu) c.1923C>A (p.Asp641Glu) c.2064C>A (p.Asp688Glu) | |
14 | g.50153129T>A | CA389644216 | SOS2 | c.2102A>T (p.Asp701Val) c.2003A>T (p.Asp668Val) c.1922A>T (p.Asp641Val) c.2063A>T (p.Asp688Val) | |
14 | g.50153129T>C | CA389644214 | SOS2 | c.2102A>G (p.Asp701Gly) c.2003A>G (p.Asp668Gly) c.1922A>G (p.Asp641Gly) c.2063A>G (p.Asp688Gly) | |
14 | g.50153129T>G | CA389644215 | SOS2 | c.2102A>C (p.Asp701Ala) c.2003A>C (p.Asp668Ala) c.1922A>C (p.Asp641Ala) c.2063A>C (p.Asp688Ala) | |
14 | g.50153130C>A | CA389644217 | SOS2 | c.2101G>T (p.Asp701Tyr) c.2002G>T (p.Asp668Tyr) c.1921G>T (p.Asp641Tyr) c.2062G>T (p.Asp688Tyr) | |
14 | g.50153130C>G | CA389644218 | SOS2 | c.2101G>C (p.Asp701His) c.2002G>C (p.Asp668His) c.1921G>C (p.Asp641His) c.2062G>C (p.Asp688His) | |
14 | g.50153130C>T | CA389644219 | SOS2 | c.2101G>A (p.Asp701Asn) c.2002G>A (p.Asp668Asn) c.1921G>A (p.Asp641Asn) c.2062G>A (p.Asp688Asn) | |
14 | g.50153131A>C | CA389644220 | SOS2 | c.2100T>G (p.Tyr700Ter) c.2001T>G (p.Tyr667Ter) c.1920T>G (p.Tyr640Ter) c.2061T>G (p.Tyr687Ter) | |
14 | g.50153131A>G | CA486175141 | SOS2 | c.2100T>C (p.Tyr700=) c.2001T>C (p.Tyr667=) c.1920T>C (p.Tyr640=) c.2061T>C (p.Tyr687=) | gnomAD v4 |
14 | g.50153131A>T | CA389644221 | SOS2 | c.2100T>A (p.Tyr700Ter) c.2001T>A (p.Tyr667Ter) c.1920T>A (p.Tyr640Ter) c.2061T>A (p.Tyr687Ter) | gnomAD v4 |
14 | g.50153132T>A | CA389644222 | SOS2 | c.2099A>T (p.Tyr700Phe) c.2000A>T (p.Tyr667Phe) c.1919A>T (p.Tyr640Phe) c.2060A>T (p.Tyr687Phe) | |
14 | g.50153132T>C | CA7177128 | SOS2 | c.2099A>G (p.Tyr700Cys) c.2000A>G (p.Tyr667Cys) c.1919A>G (p.Tyr640Cys) c.2060A>G (p.Tyr687Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50153132T>G | CA389644223 | SOS2 | c.2099A>C (p.Tyr700Ser) c.2000A>C (p.Tyr667Ser) c.1919A>C (p.Tyr640Ser) c.2060A>C (p.Tyr687Ser) | |
14 | g.50153132T= | CA2136066076 | SOS2 | c.2099A= (p.Tyr700=) c.2000A= (p.Tyr667=) c.1919A= (p.Tyr640=) c.2060A= (p.Tyr687=) | |
14 | g.50153133A>C | CA389644224 | SOS2 | c.2098T>G (p.Tyr700Asp) c.1999T>G (p.Tyr667Asp) c.1918T>G (p.Tyr640Asp) c.2059T>G (p.Tyr687Asp) | |
14 | g.50153133A>G | CA389644226 | SOS2 | c.2098T>C (p.Tyr700His) c.1999T>C (p.Tyr667His) c.1918T>C (p.Tyr640His) c.2059T>C (p.Tyr687His) | |
14 | g.50153133A>T | CA389644225 | SOS2 | c.2098T>A (p.Tyr700Asn) c.1999T>A (p.Tyr667Asn) c.1918T>A (p.Tyr640Asn) c.2059T>A (p.Tyr687Asn) | |
14 | g.50153137del | CA2624771480 | SOS2 | c.2098del (p.Tyr700MetfsTer13) c.1999del (p.Tyr667MetfsTer13) c.1918del (p.Tyr640MetfsTer13) c.2059del (p.Tyr687MetfsTer13) | gnomAD v4 |
14 | g.50153134A>C | CA389644227 | SOS2 | c.2097T>G (p.Phe699Leu) c.1998T>G (p.Phe666Leu) c.1917T>G (p.Phe639Leu) c.2058T>G (p.Phe686Leu) | |
14 | g.50153134A>G | CA486175142 | SOS2 | c.2097T>C (p.Phe699=) c.1998T>C (p.Phe666=) c.1917T>C (p.Phe639=) c.2058T>C (p.Phe686=) | |
14 | g.50153134A>T | CA389644228 | SOS2 | c.2097T>A (p.Phe699Leu) c.1998T>A (p.Phe666Leu) c.1917T>A (p.Phe639Leu) c.2058T>A (p.Phe686Leu) | |
14 | g.50153135A>C | CA389644229 | SOS2 | c.2096T>G (p.Phe699Cys) c.1997T>G (p.Phe666Cys) c.1916T>G (p.Phe639Cys) c.2057T>G (p.Phe686Cys) | |
14 | g.50153135A>G | CA389644230 | SOS2 | c.2096T>C (p.Phe699Ser) c.1997T>C (p.Phe666Ser) c.1916T>C (p.Phe639Ser) c.2057T>C (p.Phe686Ser) | |
14 | g.50153135A>T | CA389644231 | SOS2 | c.2096T>A (p.Phe699Tyr) c.1997T>A (p.Phe666Tyr) c.1916T>A (p.Phe639Tyr) c.2057T>A (p.Phe686Tyr) | |
14 | g.50153136A>C | CA389644232 | SOS2 | c.2095T>G (p.Phe699Val) c.1996T>G (p.Phe666Val) c.1915T>G (p.Phe639Val) c.2056T>G (p.Phe686Val) | |
14 | g.50153136A>G | CA389644233 | SOS2 | c.2095T>C (p.Phe699Leu) c.1996T>C (p.Phe666Leu) c.1915T>C (p.Phe639Leu) c.2056T>C (p.Phe686Leu) | |
14 | g.50153136A>T | CA389644234 | SOS2 | c.2095T>A (p.Phe699Ile) c.1996T>A (p.Phe666Ile) c.1915T>A (p.Phe639Ile) c.2056T>A (p.Phe686Ile) | |
14 | g.50153137A= | CA2136066077 | SOS2 | c.2094T= (p.His698=) c.1995T= (p.His665=) c.1914T= (p.His638=) c.2055T= (p.His685=) | |
14 | g.50153137A>C | CA389644235 | SOS2 | c.2094T>G (p.His698Gln) c.1995T>G (p.His665Gln) c.1914T>G (p.His638Gln) c.2055T>G (p.His685Gln) | |
14 | g.50153137A>G | CA7177129 | SOS2 | c.2094T>C (p.His698=) c.1995T>C (p.His665=) c.1914T>C (p.His638=) c.2055T>C (p.His685=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50153137A>T | CA389644236 | SOS2 | c.2094T>A (p.His698Gln) c.1995T>A (p.His665Gln) c.1914T>A (p.His638Gln) c.2055T>A (p.His685Gln) | |
14 | g.50153140_50153142del | CA2624771481 | SOS2 | c.2092_2094del (p.His698del) c.1993_1995del (p.His665del) c.1912_1914del (p.His638del) c.2053_2055del (p.His685del) | gnomAD v4 |
14 | g.50153138T>A | CA389644239 | SOS2 | c.2093A>T (p.His698Leu) c.1994A>T (p.His665Leu) c.1913A>T (p.His638Leu) c.2054A>T (p.His685Leu) | |
14 | g.50153138T>C | CA389644237 | SOS2 | c.2093A>G (p.His698Arg) c.1994A>G (p.His665Arg) c.1913A>G (p.His638Arg) c.2054A>G (p.His685Arg) | |
14 | g.50153138T>G | CA389644238 | SOS2 | c.2093A>C (p.His698Pro) c.1994A>C (p.His665Pro) c.1913A>C (p.His638Pro) c.2054A>C (p.His685Pro) | |
14 | g.50153139G>A | CA389644240 | SOS2 | c.2092C>T (p.His698Tyr) c.1993C>T (p.His665Tyr) c.1912C>T (p.His638Tyr) c.2053C>T (p.His685Tyr) | COSMIC COSMIC |
14 | g.50153139G>C | CA389644241 | SOS2 | c.2092C>G (p.His698Asp) c.1993C>G (p.His665Asp) c.1912C>G (p.His638Asp) c.2053C>G (p.His685Asp) | dbSNP |
14 | g.50153139G= | CA2136066078 | SOS2 | c.2092C= (p.His698=) c.1993C= (p.His665=) c.1912C= (p.His638=) c.2053C= (p.His685=) | |
14 | g.50153139G>T | CA389644242 | SOS2 | c.2092C>A (p.His698Asn) c.1993C>A (p.His665Asn) c.1912C>A (p.His638Asn) c.2053C>A (p.His685Asn) | |
14 | g.50153140A>C | CA389644243 | SOS2 | c.2091T>G (p.His697Gln) c.1992T>G (p.His664Gln) c.1911T>G (p.His637Gln) c.2052T>G (p.His684Gln) | gnomAD v4 |
14 | g.50153140A>G | CA486175143 | SOS2 | c.2091T>C (p.His697=) c.1992T>C (p.His664=) c.1911T>C (p.His637=) c.2052T>C (p.His684=) | |
14 | g.50153140A>T | CA389644244 | SOS2 | c.2091T>A (p.His697Gln) c.1992T>A (p.His664Gln) c.1911T>A (p.His637Gln) c.2052T>A (p.His684Gln) | |
14 | g.50153141T>A | CA389644245 | SOS2 | c.2090A>T (p.His697Leu) c.1991A>T (p.His664Leu) c.1910A>T (p.His637Leu) c.2051A>T (p.His684Leu) | gnomAD v4 |
14 | g.50153141T>C | CA389644246 | SOS2 | c.2090A>G (p.His697Arg) c.1991A>G (p.His664Arg) c.1910A>G (p.His637Arg) c.2051A>G (p.His684Arg) | |
14 | g.50153141T>G | CA389644247 | SOS2 | c.2090A>C (p.His697Pro) c.1991A>C (p.His664Pro) c.1910A>C (p.His637Pro) c.2051A>C (p.His684Pro) | gnomAD v4 |
14 | g.50153142G>A | CA389644248 | SOS2 | c.2089C>T (p.His697Tyr) c.1990C>T (p.His664Tyr) c.1909C>T (p.His637Tyr) c.2050C>T (p.His684Tyr) | gnomAD v4 |
14 | g.50153142G>C | CA389644249 | SOS2 | c.2089C>G (p.His697Asp) c.1990C>G (p.His664Asp) c.1909C>G (p.His637Asp) c.2050C>G (p.His684Asp) | |
14 | g.50153142G>T | CA389644250 | SOS2 | c.2089C>A (p.His697Asn) c.1990C>A (p.His664Asn) c.1909C>A (p.His637Asn) c.2050C>A (p.His684Asn) |