UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.39012337del | CA2658714647 | SOS1 | c.951del (p.Lys317AsnfsTer9) n.3516del n.2191del n.273del c.2073del (p.Lys691AsnfsTer9) c.934+1128del (n.934+1128del) c.2184del (p.Lys728AsnfsTer9) c.2277del (p.Lys759AsnfsTer9) c.2163del (p.Lys721AsnfsTer9) c.2160del (p.Lys720AsnfsTer9) c.2013del (p.Lys671AsnfsTer9) c.1119del (p.Lys373AsnfsTer9) | gnomAD v4 |
| 2 | g.39012333T>A | CA261731 | SOS1 | c.950A>T (p.Lys317Ile) n.3515A>T n.2190A>T n.272A>T c.2072A>T (p.Lys691Ile) c.934+1127A>T (n.934+1127A>T) c.2183A>T (p.Lys728Ile) c.2276A>T (p.Lys759Ile) c.2162A>T (p.Lys721Ile) c.2159A>T (p.Lys720Ile) c.2012A>T (p.Lys671Ile) c.1118A>T (p.Lys373Ile) | ClinVar dbSNP |
| 2 | g.39012333T>C | CA346364449 | SOS1 | c.950A>G (p.Lys317Arg) n.3515A>G n.2190A>G n.272A>G c.2072A>G (p.Lys691Arg) c.934+1127A>G (n.934+1127A>G) c.2183A>G (p.Lys728Arg) c.2276A>G (p.Lys759Arg) c.2162A>G (p.Lys721Arg) c.2159A>G (p.Lys720Arg) c.2012A>G (p.Lys671Arg) c.1118A>G (p.Lys373Arg) | |
| 2 | g.39012333T>G | CA346364450 | SOS1 | c.950A>C (p.Lys317Thr) n.3515A>C n.2190A>C n.272A>C c.2072A>C (p.Lys691Thr) c.934+1127A>C (n.934+1127A>C) c.2183A>C (p.Lys728Thr) c.2276A>C (p.Lys759Thr) c.2162A>C (p.Lys721Thr) c.2159A>C (p.Lys720Thr) c.2012A>C (p.Lys671Thr) c.1118A>C (p.Lys373Thr) | ClinVar |
| 2 | g.39012333T= | CA1246131381 | SOS1 | c.950A= (p.Lys317=) n.3515A= n.2190A= n.272A= c.2072A= (p.Lys691=) c.934+1127A= (n.934+1127A=) c.2183A= (p.Lys728=) c.2276A= (p.Lys759=) c.2162A= (p.Lys721=) c.2159A= (p.Lys720=) c.2012A= (p.Lys671=) c.1118A= (p.Lys373=) | |
| 2 | g.39012334T>A | CA346364452 | SOS1 | c.949A>T (p.Lys317Ter) n.3514A>T n.2189A>T n.271A>T c.2071A>T (p.Lys691Ter) c.934+1126A>T (n.934+1126A>T) c.2182A>T (p.Lys728Ter) c.2275A>T (p.Lys759Ter) c.2161A>T (p.Lys721Ter) c.2158A>T (p.Lys720Ter) c.2011A>T (p.Lys671Ter) c.1117A>T (p.Lys373Ter) | |
| 2 | g.39012334T>C | CA346364453 | SOS1 | c.949A>G (p.Lys317Glu) n.3514A>G n.2189A>G n.271A>G c.2071A>G (p.Lys691Glu) c.934+1126A>G (n.934+1126A>G) c.2182A>G (p.Lys728Glu) c.2275A>G (p.Lys759Glu) c.2161A>G (p.Lys721Glu) c.2158A>G (p.Lys720Glu) c.2011A>G (p.Lys671Glu) c.1117A>G (p.Lys373Glu) | COSMIC |
| 2 | g.39012334T>G | CA346364451 | SOS1 | c.949A>C (p.Lys317Gln) n.3514A>C n.2189A>C n.271A>C c.2071A>C (p.Lys691Gln) c.934+1126A>C (n.934+1126A>C) c.2182A>C (p.Lys728Gln) c.2275A>C (p.Lys759Gln) c.2161A>C (p.Lys721Gln) c.2158A>C (p.Lys720Gln) c.2011A>C (p.Lys671Gln) c.1117A>C (p.Lys373Gln) | dbSNP |
| 2 | g.39012335T>A | CA346364455 | SOS1 | c.948A>T (p.Lys316Asn) n.3513A>T n.2188A>T n.270A>T c.2070A>T (p.Lys690Asn) c.934+1125A>T (n.934+1125A>T) c.2181A>T (p.Lys727Asn) c.2274A>T (p.Lys758Asn) c.2160A>T (p.Lys720Asn) c.2157A>T (p.Lys719Asn) c.2010A>T (p.Lys670Asn) c.1116A>T (p.Lys372Asn) | |
| 2 | g.39012335T>C | CA425730299 | SOS1 | c.948A>G (p.Lys316=) n.3513A>G n.2188A>G n.270A>G c.2070A>G (p.Lys690=) c.934+1125A>G (n.934+1125A>G) c.2181A>G (p.Lys727=) c.2274A>G (p.Lys758=) c.2160A>G (p.Lys720=) c.2157A>G (p.Lys719=) c.2010A>G (p.Lys670=) c.1116A>G (p.Lys372=) | |
| 2 | g.39012335T>G | CA346364454 | SOS1 | c.948A>C (p.Lys316Asn) n.3513A>C n.2188A>C n.270A>C c.2070A>C (p.Lys690Asn) c.934+1125A>C (n.934+1125A>C) c.2181A>C (p.Lys727Asn) c.2274A>C (p.Lys758Asn) c.2160A>C (p.Lys720Asn) c.2157A>C (p.Lys719Asn) c.2010A>C (p.Lys670Asn) c.1116A>C (p.Lys372Asn) | |
| 2 | g.39012336T>A | CA346364456 | SOS1 | c.947A>T (p.Lys316Ile) n.3512A>T n.2187A>T n.269A>T c.2069A>T (p.Lys690Ile) c.934+1124A>T (n.934+1124A>T) c.2180A>T (p.Lys727Ile) c.2273A>T (p.Lys758Ile) c.2159A>T (p.Lys720Ile) c.2156A>T (p.Lys719Ile) c.2009A>T (p.Lys670Ile) c.1115A>T (p.Lys372Ile) | |
| 2 | g.39012336T>C | CA346364457 | SOS1 | c.947A>G (p.Lys316Arg) n.3512A>G n.2187A>G n.269A>G c.2069A>G (p.Lys690Arg) c.934+1124A>G (n.934+1124A>G) c.2180A>G (p.Lys727Arg) c.2273A>G (p.Lys758Arg) c.2159A>G (p.Lys720Arg) c.2156A>G (p.Lys719Arg) c.2009A>G (p.Lys670Arg) c.1115A>G (p.Lys372Arg) | ClinVar dbSNP |
| 2 | g.39012336T>G | CA346364458 | SOS1 | c.947A>C (p.Lys316Thr) n.3512A>C n.2187A>C n.269A>C c.2069A>C (p.Lys690Thr) c.934+1124A>C (n.934+1124A>C) c.2180A>C (p.Lys727Thr) c.2273A>C (p.Lys758Thr) c.2159A>C (p.Lys720Thr) c.2156A>C (p.Lys719Thr) c.2009A>C (p.Lys670Thr) c.1115A>C (p.Lys372Thr) | |
| 2 | g.39012336T= | CA1246131382 | SOS1 | c.947A= (p.Lys316=) n.3512A= n.2187A= n.269A= c.2069A= (p.Lys690=) c.934+1124A= (n.934+1124A=) c.2180A= (p.Lys727=) c.2273A= (p.Lys758=) c.2159A= (p.Lys720=) c.2156A= (p.Lys719=) c.2009A= (p.Lys670=) c.1115A= (p.Lys372=) | |
| 2 | g.39012337T>A | CA346364459 | SOS1 | c.946A>T (p.Lys316Ter) n.3511A>T n.2186A>T n.268A>T c.2068A>T (p.Lys690Ter) c.934+1123A>T (n.934+1123A>T) c.2179A>T (p.Lys727Ter) c.2272A>T (p.Lys758Ter) c.2158A>T (p.Lys720Ter) c.2155A>T (p.Lys719Ter) c.2008A>T (p.Lys670Ter) c.1114A>T (p.Lys372Ter) | |
| 2 | g.39012337T>C | CA346364460 | SOS1 | c.946A>G (p.Lys316Glu) n.3511A>G n.2186A>G n.268A>G c.2068A>G (p.Lys690Glu) c.934+1123A>G (n.934+1123A>G) c.2179A>G (p.Lys727Glu) c.2272A>G (p.Lys758Glu) c.2158A>G (p.Lys720Glu) c.2155A>G (p.Lys719Glu) c.2008A>G (p.Lys670Glu) c.1114A>G (p.Lys372Glu) | |
| 2 | g.39012337T>G | CA346364461 | SOS1 | c.946A>C (p.Lys316Gln) n.3511A>C n.2186A>C n.268A>C c.2068A>C (p.Lys690Gln) c.934+1123A>C (n.934+1123A>C) c.2179A>C (p.Lys727Gln) c.2272A>C (p.Lys758Gln) c.2158A>C (p.Lys720Gln) c.2155A>C (p.Lys719Gln) c.2008A>C (p.Lys670Gln) c.1114A>C (p.Lys372Gln) | |
| 2 | g.39012338C>A | CA346364462 | SOS1 | c.945G>T (p.Met315Ile) n.3510G>T n.2185G>T n.267G>T c.2067G>T (p.Met689Ile) c.934+1122G>T (n.934+1122G>T) c.2178G>T (p.Met726Ile) c.2271G>T (p.Met757Ile) c.2157G>T (p.Met719Ile) c.2154G>T (p.Met718Ile) c.2007G>T (p.Met669Ile) c.1113G>T (p.Met371Ile) | COSMIC |
| 2 | g.39012338C>G | CA346364463 | SOS1 | c.945G>C (p.Met315Ile) n.3510G>C n.2185G>C n.267G>C c.2067G>C (p.Met689Ile) c.934+1122G>C (n.934+1122G>C) c.2178G>C (p.Met726Ile) c.2271G>C (p.Met757Ile) c.2157G>C (p.Met719Ile) c.2154G>C (p.Met718Ile) c.2007G>C (p.Met669Ile) c.1113G>C (p.Met371Ile) | |
| 2 | g.39012338C>T | CA346364464 | SOS1 | c.945G>A (p.Met315Ile) n.3510G>A n.2185G>A n.267G>A c.2067G>A (p.Met689Ile) c.934+1122G>A (n.934+1122G>A) c.2178G>A (p.Met726Ile) c.2271G>A (p.Met757Ile) c.2157G>A (p.Met719Ile) c.2154G>A (p.Met718Ile) c.2007G>A (p.Met669Ile) c.1113G>A (p.Met371Ile) | |
| 2 | g.39012339A>C | CA346364465 | SOS1 | c.944T>G (p.Met315Arg) n.3509T>G n.2184T>G n.266T>G c.2066T>G (p.Met689Arg) c.934+1121T>G (n.934+1121T>G) c.2177T>G (p.Met726Arg) c.2270T>G (p.Met757Arg) c.2156T>G (p.Met719Arg) c.2153T>G (p.Met718Arg) c.2006T>G (p.Met669Arg) c.1112T>G (p.Met371Arg) | |
| 2 | g.39012339A>G | CA346364466 | SOS1 | c.944T>C (p.Met315Thr) n.3509T>C n.2184T>C n.266T>C c.2066T>C (p.Met689Thr) c.934+1121T>C (n.934+1121T>C) c.2177T>C (p.Met726Thr) c.2270T>C (p.Met757Thr) c.2156T>C (p.Met719Thr) c.2153T>C (p.Met718Thr) c.2006T>C (p.Met669Thr) c.1112T>C (p.Met371Thr) | |
| 2 | g.39012339A>T | CA346364467 | SOS1 | c.944T>A (p.Met315Lys) n.3509T>A n.2184T>A n.266T>A c.2066T>A (p.Met689Lys) c.934+1121T>A (n.934+1121T>A) c.2177T>A (p.Met726Lys) c.2270T>A (p.Met757Lys) c.2156T>A (p.Met719Lys) c.2153T>A (p.Met718Lys) c.2006T>A (p.Met669Lys) c.1112T>A (p.Met371Lys) | |
| 2 | g.39012340T>A | CA346364468 | SOS1 | c.943A>T (p.Met315Leu) n.3508A>T n.2183A>T n.265A>T c.2065A>T (p.Met689Leu) c.934+1120A>T (n.934+1120A>T) c.2176A>T (p.Met726Leu) c.2269A>T (p.Met757Leu) c.2155A>T (p.Met719Leu) c.2152A>T (p.Met718Leu) c.2005A>T (p.Met669Leu) c.1111A>T (p.Met371Leu) | |
| 2 | g.39012340T>C | CA346364470 | SOS1 | c.943A>G (p.Met315Val) n.3508A>G n.2183A>G n.265A>G c.2065A>G (p.Met689Val) c.934+1120A>G (n.934+1120A>G) c.2176A>G (p.Met726Val) c.2269A>G (p.Met757Val) c.2155A>G (p.Met719Val) c.2152A>G (p.Met718Val) c.2005A>G (p.Met669Val) c.1111A>G (p.Met371Val) | |
| 2 | g.39012340T>G | CA346364469 | SOS1 | c.943A>C (p.Met315Leu) n.3508A>C n.2183A>C n.265A>C c.2065A>C (p.Met689Leu) c.934+1120A>C (n.934+1120A>C) c.2176A>C (p.Met726Leu) c.2269A>C (p.Met757Leu) c.2155A>C (p.Met719Leu) c.2152A>C (p.Met718Leu) c.2005A>C (p.Met669Leu) c.1111A>C (p.Met371Leu) | |
| 2 | g.39012341T>A | CA425730300 | SOS1 | c.942A>T (p.Ala314=) n.3507A>T n.2182A>T n.264A>T c.2064A>T (p.Ala688=) c.934+1119A>T (n.934+1119A>T) c.2175A>T (p.Ala725=) c.2268A>T (p.Ala756=) c.2154A>T (p.Ala718=) c.2151A>T (p.Ala717=) c.2004A>T (p.Ala668=) c.1110A>T (p.Ala370=) | |
| 2 | g.39012341T>C | CA425730301 | SOS1 | c.942A>G (p.Ala314=) n.3507A>G n.2182A>G n.264A>G c.2064A>G (p.Ala688=) c.934+1119A>G (n.934+1119A>G) c.2175A>G (p.Ala725=) c.2268A>G (p.Ala756=) c.2154A>G (p.Ala718=) c.2151A>G (p.Ala717=) c.2004A>G (p.Ala668=) c.1110A>G (p.Ala370=) | gnomAD v4 |
| 2 | g.39012341T>G | CA425730302 | SOS1 | c.942A>C (p.Ala314=) n.3507A>C n.2182A>C n.264A>C c.2064A>C (p.Ala688=) c.934+1119A>C (n.934+1119A>C) c.2175A>C (p.Ala725=) c.2268A>C (p.Ala756=) c.2154A>C (p.Ala718=) c.2151A>C (p.Ala717=) c.2004A>C (p.Ala668=) c.1110A>C (p.Ala370=) | |
| 2 | g.39012342G>A | CA346364471 | SOS1 | c.941C>T (p.Ala314Val) n.3506C>T n.2181C>T n.263C>T c.2063C>T (p.Ala688Val) c.934+1118C>T (n.934+1118C>T) c.2174C>T (p.Ala725Val) c.2267C>T (p.Ala756Val) c.2153C>T (p.Ala718Val) c.2150C>T (p.Ala717Val) c.2003C>T (p.Ala668Val) c.1109C>T (p.Ala370Val) | gnomAD v4 |
| 2 | g.39012342G>C | CA346364472 | SOS1 | c.941C>G (p.Ala314Gly) n.3506C>G n.2181C>G n.263C>G c.2063C>G (p.Ala688Gly) c.934+1118C>G (n.934+1118C>G) c.2174C>G (p.Ala725Gly) c.2267C>G (p.Ala756Gly) c.2153C>G (p.Ala718Gly) c.2150C>G (p.Ala717Gly) c.2003C>G (p.Ala668Gly) c.1109C>G (p.Ala370Gly) | gnomAD v4 |
| 2 | g.39012342G>T | CA346364473 | SOS1 | c.941C>A (p.Ala314Glu) n.3506C>A n.2181C>A n.263C>A c.2063C>A (p.Ala688Glu) c.934+1118C>A (n.934+1118C>A) c.2174C>A (p.Ala725Glu) c.2267C>A (p.Ala756Glu) c.2153C>A (p.Ala718Glu) c.2150C>A (p.Ala717Glu) c.2003C>A (p.Ala668Glu) c.1109C>A (p.Ala370Glu) | gnomAD v4 |
| 2 | g.39012343C>A | CA346364474 | SOS1 | c.940G>T (p.Ala314Ser) n.3505G>T n.2180G>T n.262G>T c.2062G>T (p.Ala688Ser) c.934+1117G>T (n.934+1117G>T) c.2173G>T (p.Ala725Ser) c.2266G>T (p.Ala756Ser) c.2152G>T (p.Ala718Ser) c.2149G>T (p.Ala717Ser) c.2002G>T (p.Ala668Ser) c.1108G>T (p.Ala370Ser) | |
| 2 | g.39012343C>G | CA346364475 | SOS1 | c.940G>C (p.Ala314Pro) n.3505G>C n.2180G>C n.262G>C c.2062G>C (p.Ala688Pro) c.934+1117G>C (n.934+1117G>C) c.2173G>C (p.Ala725Pro) c.2266G>C (p.Ala756Pro) c.2152G>C (p.Ala718Pro) c.2149G>C (p.Ala717Pro) c.2002G>C (p.Ala668Pro) c.1108G>C (p.Ala370Pro) | |
| 2 | g.39012343C>T | CA346364476 | SOS1 | c.940G>A (p.Ala314Thr) n.3505G>A n.2180G>A n.262G>A c.2062G>A (p.Ala688Thr) c.934+1117G>A (n.934+1117G>A) c.2173G>A (p.Ala725Thr) c.2266G>A (p.Ala756Thr) c.2152G>A (p.Ala718Thr) c.2149G>A (p.Ala717Thr) c.2002G>A (p.Ala668Thr) c.1108G>A (p.Ala370Thr) | |
| 2 | g.39012344T>A | CA346364477 | SOS1 | c.939A>T (p.Lys313Asn) n.3504A>T n.2179A>T n.261A>T c.2061A>T (p.Lys687Asn) c.934+1116A>T (n.934+1116A>T) c.2172A>T (p.Lys724Asn) c.2265A>T (p.Lys755Asn) c.2151A>T (p.Lys717Asn) c.2148A>T (p.Lys716Asn) c.2001A>T (p.Lys667Asn) c.1107A>T (p.Lys369Asn) | |
| 2 | g.39012344T>C | CA425730303 | SOS1 | c.939A>G (p.Lys313=) n.3504A>G n.2179A>G n.261A>G c.2061A>G (p.Lys687=) c.934+1116A>G (n.934+1116A>G) c.2172A>G (p.Lys724=) c.2265A>G (p.Lys755=) c.2151A>G (p.Lys717=) c.2148A>G (p.Lys716=) c.2001A>G (p.Lys667=) c.1107A>G (p.Lys369=) | |
| 2 | g.39012344T>G | CA346364478 | SOS1 | c.939A>C (p.Lys313Asn) n.3504A>C n.2179A>C n.261A>C c.2061A>C (p.Lys687Asn) c.934+1116A>C (n.934+1116A>C) c.2172A>C (p.Lys724Asn) c.2265A>C (p.Lys755Asn) c.2151A>C (p.Lys717Asn) c.2148A>C (p.Lys716Asn) c.2001A>C (p.Lys667Asn) c.1107A>C (p.Lys369Asn) | |
| 2 | g.39012346del | CA2658714648 | SOS1 | c.939del (p.Ala314GlnfsTer2) n.3504del n.2179del n.261del c.2061del (p.Ala688GlnfsTer2) c.934+1116del (n.934+1116del) c.2172del (p.Ala725GlnfsTer2) c.2265del (p.Ala756GlnfsTer2) c.2151del (p.Ala718GlnfsTer2) c.2148del (p.Ala717GlnfsTer2) c.2001del (p.Ala668GlnfsTer2) c.1107del (p.Ala370GlnfsTer2) | gnomAD v4 |
| 2 | g.39012345T>A | CA346364479 | SOS1 | c.938A>T (p.Lys313Ile) n.3503A>T n.2178A>T n.260A>T c.2060A>T (p.Lys687Ile) c.934+1115A>T (n.934+1115A>T) c.2171A>T (p.Lys724Ile) c.2264A>T (p.Lys755Ile) c.2150A>T (p.Lys717Ile) c.2147A>T (p.Lys716Ile) c.2000A>T (p.Lys667Ile) c.1106A>T (p.Lys369Ile) | ClinVar |
| 2 | g.39012345T>C | CA346364480 | SOS1 | c.938A>G (p.Lys313Arg) n.3503A>G n.2178A>G n.260A>G c.2060A>G (p.Lys687Arg) c.934+1115A>G (n.934+1115A>G) c.2171A>G (p.Lys724Arg) c.2264A>G (p.Lys755Arg) c.2150A>G (p.Lys717Arg) c.2147A>G (p.Lys716Arg) c.2000A>G (p.Lys667Arg) c.1106A>G (p.Lys369Arg) | |
| 2 | g.39012345T>G | CA346364481 | SOS1 | c.938A>C (p.Lys313Thr) n.3503A>C n.2178A>C n.260A>C c.2060A>C (p.Lys687Thr) c.934+1115A>C (n.934+1115A>C) c.2171A>C (p.Lys724Thr) c.2264A>C (p.Lys755Thr) c.2150A>C (p.Lys717Thr) c.2147A>C (p.Lys716Thr) c.2000A>C (p.Lys667Thr) c.1106A>C (p.Lys369Thr) | |
| 2 | g.39012346T>A | CA346364483 | SOS1 | c.937A>T (p.Lys313Ter) n.3502A>T n.2177A>T n.259A>T c.2059A>T (p.Lys687Ter) c.934+1114A>T (n.934+1114A>T) c.2170A>T (p.Lys724Ter) c.2263A>T (p.Lys755Ter) c.2149A>T (p.Lys717Ter) c.2146A>T (p.Lys716Ter) c.1999A>T (p.Lys667Ter) c.1105A>T (p.Lys369Ter) | |
| 2 | g.39012346T>C | CA346364484 | SOS1 | c.937A>G (p.Lys313Glu) n.3502A>G n.2177A>G n.259A>G c.2059A>G (p.Lys687Glu) c.934+1114A>G (n.934+1114A>G) c.2170A>G (p.Lys724Glu) c.2263A>G (p.Lys755Glu) c.2149A>G (p.Lys717Glu) c.2146A>G (p.Lys716Glu) c.1999A>G (p.Lys667Glu) c.1105A>G (p.Lys369Glu) | gnomAD v4 |
| 2 | g.39012346T>G | CA346364482 | SOS1 | c.937A>C (p.Lys313Gln) n.3502A>C n.2177A>C n.259A>C c.2059A>C (p.Lys687Gln) c.934+1114A>C (n.934+1114A>C) c.2170A>C (p.Lys724Gln) c.2263A>C (p.Lys755Gln) c.2149A>C (p.Lys717Gln) c.2146A>C (p.Lys716Gln) c.1999A>C (p.Lys667Gln) c.1105A>C (p.Lys369Gln) | |
| 2 | g.39012347A>C | CA425730304 | SOS1 | c.936T>G (p.Gly312=) n.3501T>G n.2176T>G n.258T>G c.2058T>G (p.Gly686=) c.934+1113T>G (n.934+1113T>G) c.2169T>G (p.Gly723=) c.2262T>G (p.Gly754=) c.2148T>G (p.Gly716=) c.2145T>G (p.Gly715=) c.1998T>G (p.Gly666=) c.1104T>G (p.Gly368=) | |
| 2 | g.39012347A>G | CA425730306 | SOS1 | c.936T>C (p.Gly312=) n.3501T>C n.2176T>C n.258T>C c.2058T>C (p.Gly686=) c.934+1113T>C (n.934+1113T>C) c.2169T>C (p.Gly723=) c.2262T>C (p.Gly754=) c.2148T>C (p.Gly716=) c.2145T>C (p.Gly715=) c.1998T>C (p.Gly666=) c.1104T>C (p.Gly368=) | gnomAD v4 |
| 2 | g.39012347A>T | CA425730305 | SOS1 | c.936T>A (p.Gly312=) n.3501T>A n.2176T>A n.258T>A c.2058T>A (p.Gly686=) c.934+1113T>A (n.934+1113T>A) c.2169T>A (p.Gly723=) c.2262T>A (p.Gly754=) c.2148T>A (p.Gly716=) c.2145T>A (p.Gly715=) c.1998T>A (p.Gly666=) c.1104T>A (p.Gly368=) | |
| 2 | g.39012348C>A | CA346364485 | SOS1 | c.935G>T (p.Gly312Val) n.3500G>T n.2175G>T n.257G>T c.2057G>T (p.Gly686Val) c.934+1112G>T (n.934+1112G>T) c.2168G>T (p.Gly723Val) c.2261G>T (p.Gly754Val) c.2147G>T (p.Gly716Val) c.2144G>T (p.Gly715Val) c.1997G>T (p.Gly666Val) c.1103G>T (p.Gly368Val) | ClinVar |