Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.39022973A=CA1246139865SOS1n.1335T=
c.222T= (p.Asn74=)
n.1676T=
n.1462T=
c.1344T= (p.Asn448=)
c.1455T= (p.Asn485=)
n.299T=
c.1548T= (p.Asn516=)
c.1434T= (p.Asn478=)
c.1431T= (p.Asn477=)
c.1284T= (p.Asn428=)
c.390T= (p.Asn130=)
2g.39022973A>CCA346366136SOS1n.1335T>G
c.222T>G (p.Asn74Lys)
n.1676T>G
n.1462T>G
c.1344T>G (p.Asn448Lys)
c.1455T>G (p.Asn485Lys)
n.299T>G
c.1548T>G (p.Asn516Lys)
c.1434T>G (p.Asn478Lys)
c.1431T>G (p.Asn477Lys)
c.1284T>G (p.Asn428Lys)
c.390T>G (p.Asn130Lys)
 ClinVar
2g.39022973A>GCA425866813SOS1n.1335T>C
c.222T>C (p.Asn74=)
n.1676T>C
n.1462T>C
c.1344T>C (p.Asn448=)
c.1455T>C (p.Asn485=)
n.299T>C
c.1548T>C (p.Asn516=)
c.1434T>C (p.Asn478=)
c.1431T>C (p.Asn477=)
c.1284T>C (p.Asn428=)
c.390T>C (p.Asn130=)
 dbSNP gnomAD v4
2g.39022973A>TCA346366137SOS1n.1335T>A
c.222T>A (p.Asn74Lys)
n.1676T>A
n.1462T>A
c.1344T>A (p.Asn448Lys)
c.1455T>A (p.Asn485Lys)
n.299T>A
c.1548T>A (p.Asn516Lys)
c.1434T>A (p.Asn478Lys)
c.1431T>A (p.Asn477Lys)
c.1284T>A (p.Asn428Lys)
c.390T>A (p.Asn130Lys)
2g.39022974T>ACA346366138SOS1n.1334A>T
c.221A>T (p.Asn74Ile)
n.1675A>T
n.1461A>T
c.1343A>T (p.Asn448Ile)
c.1454A>T (p.Asn485Ile)
n.298A>T
c.1547A>T (p.Asn516Ile)
c.1433A>T (p.Asn478Ile)
c.1430A>T (p.Asn477Ile)
c.1283A>T (p.Asn428Ile)
c.389A>T (p.Asn130Ile)
2g.39022974T>CCA45674752SOS1n.1334A>G
c.221A>G (p.Asn74Ser)
n.1675A>G
n.1461A>G
c.1343A>G (p.Asn448Ser)
c.1454A>G (p.Asn485Ser)
n.298A>G
c.1547A>G (p.Asn516Ser)
c.1433A>G (p.Asn478Ser)
c.1430A>G (p.Asn477Ser)
c.1283A>G (p.Asn428Ser)
c.389A>G (p.Asn130Ser)
 ClinVar dbSNP gnomAD v4
2g.39022974T>GCA346366139SOS1n.1334A>C
c.221A>C (p.Asn74Thr)
n.1675A>C
n.1461A>C
c.1343A>C (p.Asn448Thr)
c.1454A>C (p.Asn485Thr)
n.298A>C
c.1547A>C (p.Asn516Thr)
c.1433A>C (p.Asn478Thr)
c.1430A>C (p.Asn477Thr)
c.1283A>C (p.Asn428Thr)
c.389A>C (p.Asn130Thr)
2g.39022974T=CA1246139869SOS1n.1334A=
c.221A= (p.Asn74=)
n.1675A=
n.1461A=
c.1343A= (p.Asn448=)
c.1454A= (p.Asn485=)
n.298A=
c.1547A= (p.Asn516=)
c.1433A= (p.Asn478=)
c.1430A= (p.Asn477=)
c.1283A= (p.Asn428=)
c.389A= (p.Asn130=)
2g.39022975T>ACA346366140SOS1n.1333A>T
c.220A>T (p.Asn74Tyr)
n.1674A>T
n.1460A>T
c.1342A>T (p.Asn448Tyr)
c.1453A>T (p.Asn485Tyr)
n.297A>T
c.1546A>T (p.Asn516Tyr)
c.1432A>T (p.Asn478Tyr)
c.1429A>T (p.Asn477Tyr)
c.1282A>T (p.Asn428Tyr)
c.388A>T (p.Asn130Tyr)
2g.39022975T>CCA346366141SOS1n.1333A>G
c.220A>G (p.Asn74Asp)
n.1674A>G
n.1460A>G
c.1342A>G (p.Asn448Asp)
c.1453A>G (p.Asn485Asp)
n.297A>G
c.1546A>G (p.Asn516Asp)
c.1432A>G (p.Asn478Asp)
c.1429A>G (p.Asn477Asp)
c.1282A>G (p.Asn428Asp)
c.388A>G (p.Asn130Asp)
2g.39022975T>GCA346366142SOS1n.1333A>C
c.220A>C (p.Asn74His)
n.1674A>C
n.1460A>C
c.1342A>C (p.Asn448His)
c.1453A>C (p.Asn485His)
n.297A>C
c.1546A>C (p.Asn516His)
c.1432A>C (p.Asn478His)
c.1429A>C (p.Asn477His)
c.1282A>C (p.Asn428His)
c.388A>C (p.Asn130His)
2g.39022976G>ACA1624597SOS1n.1332C>T
c.219C>T (p.Ser73=)
n.1673C>T
n.1459C>T
c.1341C>T (p.Ser447=)
c.1452C>T (p.Ser484=)
n.296C>T
c.1545C>T (p.Ser515=)
c.1431C>T (p.Ser477=)
c.1428C>T (p.Ser476=)
c.1281C>T (p.Ser427=)
c.387C>T (p.Ser129=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.39022976G>CCA346366143SOS1n.1332C>G
c.219C>G (p.Ser73Arg)
n.1673C>G
n.1459C>G
c.1341C>G (p.Ser447Arg)
c.1452C>G (p.Ser484Arg)
n.296C>G
c.1545C>G (p.Ser515Arg)
c.1431C>G (p.Ser477Arg)
c.1428C>G (p.Ser476Arg)
c.1281C>G (p.Ser427Arg)
c.387C>G (p.Ser129Arg)
 gnomAD v4
2g.39022976G=CA1246139874SOS1n.1332C=
c.219C= (p.Ser73=)
n.1673C=
n.1459C=
c.1341C= (p.Ser447=)
c.1452C= (p.Ser484=)
n.296C=
c.1545C= (p.Ser515=)
c.1431C= (p.Ser477=)
c.1428C= (p.Ser476=)
c.1281C= (p.Ser427=)
c.387C= (p.Ser129=)
2g.39022976G>TCA235358SOS1n.1332C>A
c.219C>A (p.Ser73Arg)
n.1673C>A
n.1459C>A
c.1341C>A (p.Ser447Arg)
c.1452C>A (p.Ser484Arg)
n.296C>A
c.1545C>A (p.Ser515Arg)
c.1431C>A (p.Ser477Arg)
c.1428C>A (p.Ser476Arg)
c.1281C>A (p.Ser427Arg)
c.387C>A (p.Ser129Arg)
 ClinVar dbSNP
2g.39022977C>ACA346366144SOS1n.1331G>T
c.218G>T (p.Ser73Ile)
n.1672G>T
n.1458G>T
c.1340G>T (p.Ser447Ile)
c.1451G>T (p.Ser484Ile)
n.295G>T
c.1544G>T (p.Ser515Ile)
c.1430G>T (p.Ser477Ile)
c.1427G>T (p.Ser476Ile)
c.1280G>T (p.Ser427Ile)
c.386G>T (p.Ser129Ile)
2g.39022977C=CA1246139879SOS1n.1331G=
c.218G= (p.Ser73=)
n.1672G=
n.1458G=
c.1340G= (p.Ser447=)
c.1451G= (p.Ser484=)
n.295G=
c.1544G= (p.Ser515=)
c.1430G= (p.Ser477=)
c.1427G= (p.Ser476=)
c.1280G= (p.Ser427=)
c.386G= (p.Ser129=)
2g.39022977C>GCA346366145SOS1n.1331G>C
c.218G>C (p.Ser73Thr)
n.1672G>C
n.1458G>C
c.1340G>C (p.Ser447Thr)
c.1451G>C (p.Ser484Thr)
n.295G>C
c.1544G>C (p.Ser515Thr)
c.1430G>C (p.Ser477Thr)
c.1427G>C (p.Ser476Thr)
c.1280G>C (p.Ser427Thr)
c.386G>C (p.Ser129Thr)
2g.39022977C>TCA346366146SOS1n.1331G>A
c.218G>A (p.Ser73Asn)
n.1672G>A
n.1458G>A
c.1340G>A (p.Ser447Asn)
c.1451G>A (p.Ser484Asn)
n.295G>A
c.1544G>A (p.Ser515Asn)
c.1430G>A (p.Ser477Asn)
c.1427G>A (p.Ser476Asn)
c.1280G>A (p.Ser427Asn)
c.386G>A (p.Ser129Asn)
 dbSNP gnomAD v3 gnomAD v4
2g.39022978T>ACA346366147SOS1n.1330A>T
c.217A>T (p.Ser73Cys)
n.1671A>T
n.1457A>T
c.1339A>T (p.Ser447Cys)
c.1450A>T (p.Ser484Cys)
n.294A>T
c.1543A>T (p.Ser515Cys)
c.1429A>T (p.Ser477Cys)
c.1426A>T (p.Ser476Cys)
c.1279A>T (p.Ser427Cys)
c.385A>T (p.Ser129Cys)
 dbSNP gnomAD v4
2g.39022978T>CCA346366148SOS1n.1330A>G
c.217A>G (p.Ser73Gly)
n.1671A>G
n.1457A>G
c.1339A>G (p.Ser447Gly)
c.1450A>G (p.Ser484Gly)
n.294A>G
c.1543A>G (p.Ser515Gly)
c.1429A>G (p.Ser477Gly)
c.1426A>G (p.Ser476Gly)
c.1279A>G (p.Ser427Gly)
c.385A>G (p.Ser129Gly)
 COSMIC
2g.39022978T>GCA346366149SOS1n.1330A>C
c.217A>C (p.Ser73Arg)
n.1671A>C
n.1457A>C
c.1339A>C (p.Ser447Arg)
c.1450A>C (p.Ser484Arg)
n.294A>C
c.1543A>C (p.Ser515Arg)
c.1429A>C (p.Ser477Arg)
c.1426A>C (p.Ser476Arg)
c.1279A>C (p.Ser427Arg)
c.385A>C (p.Ser129Arg)
2g.39022978T=CA1246139881SOS1n.1330A=
c.217A= (p.Ser73=)
n.1671A=
n.1457A=
c.1339A= (p.Ser447=)
c.1450A= (p.Ser484=)
n.294A=
c.1543A= (p.Ser515=)
c.1429A= (p.Ser477=)
c.1426A= (p.Ser476=)
c.1279A= (p.Ser427=)
c.385A= (p.Ser129=)
2g.39022979A>CCA425866775SOS1n.1329T>G
c.216T>G (p.Ala72=)
n.1670T>G
n.1456T>G
c.1338T>G (p.Ala446=)
c.1449T>G (p.Ala483=)
n.293T>G
c.1542T>G (p.Ala514=)
c.1428T>G (p.Ala476=)
c.1425T>G (p.Ala475=)
c.1278T>G (p.Ala426=)
c.384T>G (p.Ala128=)
2g.39022979A>GCA425866776SOS1n.1329T>C
c.216T>C (p.Ala72=)
n.1670T>C
n.1456T>C
c.1338T>C (p.Ala446=)
c.1449T>C (p.Ala483=)
n.293T>C
c.1542T>C (p.Ala514=)
c.1428T>C (p.Ala476=)
c.1425T>C (p.Ala475=)
c.1278T>C (p.Ala426=)
c.384T>C (p.Ala128=)
2g.39022979A>TCA425866777SOS1n.1329T>A
c.216T>A (p.Ala72=)
n.1670T>A
n.1456T>A
c.1338T>A (p.Ala446=)
c.1449T>A (p.Ala483=)
n.293T>A
c.1542T>A (p.Ala514=)
c.1428T>A (p.Ala476=)
c.1425T>A (p.Ala475=)
c.1278T>A (p.Ala426=)
c.384T>A (p.Ala128=)
2g.39022980G>ACA346366150SOS1n.1328C>T
c.215C>T (p.Ala72Val)
n.1669C>T
n.1455C>T
c.1337C>T (p.Ala446Val)
c.1448C>T (p.Ala483Val)
n.292C>T
c.1541C>T (p.Ala514Val)
c.1427C>T (p.Ala476Val)
c.1424C>T (p.Ala475Val)
c.1277C>T (p.Ala426Val)
c.383C>T (p.Ala128Val)
 gnomAD v4 COSMIC
2g.39022980G>CCA346366151SOS1n.1328C>G
c.215C>G (p.Ala72Gly)
n.1669C>G
n.1455C>G
c.1337C>G (p.Ala446Gly)
c.1448C>G (p.Ala483Gly)
n.292C>G
c.1541C>G (p.Ala514Gly)
c.1427C>G (p.Ala476Gly)
c.1424C>G (p.Ala475Gly)
c.1277C>G (p.Ala426Gly)
c.383C>G (p.Ala128Gly)
2g.39022980G>TCA346366152SOS1n.1328C>A
c.215C>A (p.Ala72Asp)
n.1669C>A
n.1455C>A
c.1337C>A (p.Ala446Asp)
c.1448C>A (p.Ala483Asp)
n.292C>A
c.1541C>A (p.Ala514Asp)
c.1427C>A (p.Ala476Asp)
c.1424C>A (p.Ala475Asp)
c.1277C>A (p.Ala426Asp)
c.383C>A (p.Ala128Asp)
2g.39022981C>ACA346366153SOS1n.1327G>T
c.214G>T (p.Ala72Ser)
n.1668G>T
n.1454G>T
c.1336G>T (p.Ala446Ser)
c.1447G>T (p.Ala483Ser)
n.291G>T
c.1540G>T (p.Ala514Ser)
c.1426G>T (p.Ala476Ser)
c.1423G>T (p.Ala475Ser)
c.1276G>T (p.Ala426Ser)
c.382G>T (p.Ala128Ser)
2g.39022981C>GCA346366154SOS1n.1327G>C
c.214G>C (p.Ala72Pro)
n.1668G>C
n.1454G>C
c.1336G>C (p.Ala446Pro)
c.1447G>C (p.Ala483Pro)
n.291G>C
c.1540G>C (p.Ala514Pro)
c.1426G>C (p.Ala476Pro)
c.1423G>C (p.Ala475Pro)
c.1276G>C (p.Ala426Pro)
c.382G>C (p.Ala128Pro)
2g.39022981C>TCA346366155SOS1n.1327G>A
c.214G>A (p.Ala72Thr)
n.1668G>A
n.1454G>A
c.1336G>A (p.Ala446Thr)
c.1447G>A (p.Ala483Thr)
n.291G>A
c.1540G>A (p.Ala514Thr)
c.1426G>A (p.Ala476Thr)
c.1423G>A (p.Ala475Thr)
c.1276G>A (p.Ala426Thr)
c.382G>A (p.Ala128Thr)
2g.39022982A>CCA425866781SOS1n.1326T>G
c.213T>G (p.Gly71=)
n.1667T>G
n.1453T>G
c.1335T>G (p.Gly445=)
c.1446T>G (p.Gly482=)
n.290T>G
c.1539T>G (p.Gly513=)
c.1425T>G (p.Gly475=)
c.1422T>G (p.Gly474=)
c.1275T>G (p.Gly425=)
c.381T>G (p.Gly127=)
2g.39022982A>GCA425866780SOS1n.1326T>C
c.213T>C (p.Gly71=)
n.1667T>C
n.1453T>C
c.1335T>C (p.Gly445=)
c.1446T>C (p.Gly482=)
n.290T>C
c.1539T>C (p.Gly513=)
c.1425T>C (p.Gly475=)
c.1422T>C (p.Gly474=)
c.1275T>C (p.Gly425=)
c.381T>C (p.Gly127=)
2g.39022982A>TCA425866779SOS1n.1326T>A
c.213T>A (p.Gly71=)
n.1667T>A
n.1453T>A
c.1335T>A (p.Gly445=)
c.1446T>A (p.Gly482=)
n.290T>A
c.1539T>A (p.Gly513=)
c.1425T>A (p.Gly475=)
c.1422T>A (p.Gly474=)
c.1275T>A (p.Gly425=)
c.381T>A (p.Gly127=)
2g.39022983C>ACA346366157SOS1n.1325G>T
c.212G>T (p.Gly71Val)
n.1666G>T
n.1452G>T
c.1334G>T (p.Gly445Val)
c.1445G>T (p.Gly482Val)
n.289G>T
c.1538G>T (p.Gly513Val)
c.1424G>T (p.Gly475Val)
c.1421G>T (p.Gly474Val)
c.1274G>T (p.Gly425Val)
c.380G>T (p.Gly127Val)
 gnomAD v4
2g.39022983C>GCA346366158SOS1n.1325G>C
c.212G>C (p.Gly71Ala)
n.1666G>C
n.1452G>C
c.1334G>C (p.Gly445Ala)
c.1445G>C (p.Gly482Ala)
n.289G>C
c.1538G>C (p.Gly513Ala)
c.1424G>C (p.Gly475Ala)
c.1421G>C (p.Gly474Ala)
c.1274G>C (p.Gly425Ala)
c.380G>C (p.Gly127Ala)
2g.39022983C>TCA346366156SOS1n.1325G>A
c.212G>A (p.Gly71Asp)
n.1666G>A
n.1452G>A
c.1334G>A (p.Gly445Asp)
c.1445G>A (p.Gly482Asp)
n.289G>A
c.1538G>A (p.Gly513Asp)
c.1424G>A (p.Gly475Asp)
c.1421G>A (p.Gly474Asp)
c.1274G>A (p.Gly425Asp)
c.380G>A (p.Gly127Asp)
2g.39022984C>ACA346366160SOS1n.1324G>T
c.211G>T (p.Gly71Cys)
n.1665G>T
n.1451G>T
c.1333G>T (p.Gly445Cys)
c.1444G>T (p.Gly482Cys)
n.288G>T
c.1537G>T (p.Gly513Cys)
c.1423G>T (p.Gly475Cys)
c.1420G>T (p.Gly474Cys)
c.1273G>T (p.Gly425Cys)
c.379G>T (p.Gly127Cys)
2g.39022984C=CA1246139883SOS1n.1324G=
c.211G= (p.Gly71=)
n.1665G=
n.1451G=
c.1333G= (p.Gly445=)
c.1444G= (p.Gly482=)
n.288G=
c.1537G= (p.Gly513=)
c.1423G= (p.Gly475=)
c.1420G= (p.Gly474=)
c.1273G= (p.Gly425=)
c.379G= (p.Gly127=)
2g.39022984C>GCA346366159SOS1n.1324G>C
c.211G>C (p.Gly71Arg)
n.1665G>C
n.1451G>C
c.1333G>C (p.Gly445Arg)
c.1444G>C (p.Gly482Arg)
n.288G>C
c.1537G>C (p.Gly513Arg)
c.1423G>C (p.Gly475Arg)
c.1420G>C (p.Gly474Arg)
c.1273G>C (p.Gly425Arg)
c.379G>C (p.Gly127Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.39022984C>TCA346366161SOS1n.1324G>A
c.211G>A (p.Gly71Ser)
n.1665G>A
n.1451G>A
c.1333G>A (p.Gly445Ser)
c.1444G>A (p.Gly482Ser)
n.288G>A
c.1537G>A (p.Gly513Ser)
c.1423G>A (p.Gly475Ser)
c.1420G>A (p.Gly474Ser)
c.1273G>A (p.Gly425Ser)
c.379G>A (p.Gly127Ser)
 gnomAD v4
2g.39022985A>CCA425866785SOS1n.1323T>G
c.210T>G (p.Pro70=)
n.1664T>G
n.1450T>G
c.1332T>G (p.Pro444=)
c.1443T>G (p.Pro481=)
n.287T>G
c.1536T>G (p.Pro512=)
c.1422T>G (p.Pro474=)
c.1419T>G (p.Pro473=)
c.1272T>G (p.Pro424=)
c.378T>G (p.Pro126=)
2g.39022985A>GCA425866784SOS1n.1323T>C
c.210T>C (p.Pro70=)
n.1664T>C
n.1450T>C
c.1332T>C (p.Pro444=)
c.1443T>C (p.Pro481=)
n.287T>C
c.1536T>C (p.Pro512=)
c.1422T>C (p.Pro474=)
c.1419T>C (p.Pro473=)
c.1272T>C (p.Pro424=)
c.378T>C (p.Pro126=)
2g.39022985A>TCA425866783SOS1n.1323T>A
c.210T>A (p.Pro70=)
n.1664T>A
n.1450T>A
c.1332T>A (p.Pro444=)
c.1443T>A (p.Pro481=)
n.287T>A
c.1536T>A (p.Pro512=)
c.1422T>A (p.Pro474=)
c.1419T>A (p.Pro473=)
c.1272T>A (p.Pro424=)
c.378T>A (p.Pro126=)
2g.39022986G>ACA235355SOS1n.1322C>T
c.209C>T (p.Pro70Leu)
n.1663C>T
n.1449C>T
c.1331C>T (p.Pro444Leu)
c.1442C>T (p.Pro481Leu)
n.286C>T
c.1535C>T (p.Pro512Leu)
c.1421C>T (p.Pro474Leu)
c.1418C>T (p.Pro473Leu)
c.1271C>T (p.Pro424Leu)
c.377C>T (p.Pro126Leu)
 ClinVar dbSNP gnomAD v4
2g.39022986G>CCA346366163SOS1n.1322C>G
c.209C>G (p.Pro70Arg)
n.1663C>G
n.1449C>G
c.1331C>G (p.Pro444Arg)
c.1442C>G (p.Pro481Arg)
n.286C>G
c.1535C>G (p.Pro512Arg)
c.1421C>G (p.Pro474Arg)
c.1418C>G (p.Pro473Arg)
c.1271C>G (p.Pro424Arg)
c.377C>G (p.Pro126Arg)
2g.39022986G=CA1246139894SOS1n.1322C=
c.209C= (p.Pro70=)
n.1663C=
n.1449C=
c.1331C= (p.Pro444=)
c.1442C= (p.Pro481=)
n.286C=
c.1535C= (p.Pro512=)
c.1421C= (p.Pro474=)
c.1418C= (p.Pro473=)
c.1271C= (p.Pro424=)
c.377C= (p.Pro126=)
2g.39022986G>TCA346366162SOS1n.1322C>A
c.209C>A (p.Pro70His)
n.1663C>A
n.1449C>A
c.1331C>A (p.Pro444His)
c.1442C>A (p.Pro481His)
n.286C>A
c.1535C>A (p.Pro512His)
c.1421C>A (p.Pro474His)
c.1418C>A (p.Pro473His)
c.1271C>A (p.Pro424His)
c.377C>A (p.Pro126His)
2g.39022987delCA2658715476SOS1n.1322del
c.209del (p.Pro70LeufsTer?)
n.1663del
n.1449del
c.1331del (p.Pro444LeufsTer?)
c.1442del (p.Pro481LeufsTer?)
n.286del
c.1535del (p.Pro512LeufsTer?)
c.1421del (p.Pro474LeufsTer?)
c.1418del (p.Pro473LeufsTer?)
c.1271del (p.Pro424LeufsTer?)
c.377del (p.Pro126LeufsTer?)
 gnomAD v4
2g.39022988_39022996dupCA2586964758SOS1n.1314_1322dup
c.201_209dup (p.Pro70_Gly71insArgLeuPro)
n.1655_1663dup
n.1441_1449dup
c.1323_1331dup (p.Pro444_Gly445insArgLeuPro)
c.1434_1442dup (p.Pro481_Gly482insArgLeuPro)
n.278_286dup
c.1527_1535dup (p.Pro512_Gly513insArgLeuPro)
c.1413_1421dup (p.Pro474_Gly475insArgLeuPro)
c.1410_1418dup (p.Pro473_Gly474insArgLeuPro)
c.1263_1271dup (p.Pro424_Gly425insArgLeuPro)
c.369_377dup (p.Pro126_Gly127insArgLeuPro)
2g.39022987G>ACA346366164SOS1n.1321C>T
c.208C>T (p.Pro70Ser)
n.1662C>T
n.1448C>T
c.1330C>T (p.Pro444Ser)
c.1441C>T (p.Pro481Ser)
n.285C>T
c.1534C>T (p.Pro512Ser)
c.1420C>T (p.Pro474Ser)
c.1417C>T (p.Pro473Ser)
c.1270C>T (p.Pro424Ser)
c.376C>T (p.Pro126Ser)
2g.39022987G>CCA346366165SOS1n.1321C>G
c.208C>G (p.Pro70Ala)
n.1662C>G
n.1448C>G
c.1330C>G (p.Pro444Ala)
c.1441C>G (p.Pro481Ala)
n.285C>G
c.1534C>G (p.Pro512Ala)
c.1420C>G (p.Pro474Ala)
c.1417C>G (p.Pro473Ala)
c.1270C>G (p.Pro424Ala)
c.376C>G (p.Pro126Ala)
2g.39022987G>TCA346366166SOS1n.1321C>A
c.208C>A (p.Pro70Thr)
n.1662C>A
n.1448C>A
c.1330C>A (p.Pro444Thr)
c.1441C>A (p.Pro481Thr)
n.285C>A
c.1534C>A (p.Pro512Thr)
c.1420C>A (p.Pro474Thr)
c.1417C>A (p.Pro473Thr)
c.1270C>A (p.Pro424Thr)
c.376C>A (p.Pro126Thr)
2g.39022988A>CCA425866787SOS1n.1320T>G
c.207T>G (p.Leu69=)
n.1661T>G
n.1447T>G
c.1329T>G (p.Leu443=)
c.1440T>G (p.Leu480=)
n.284T>G
c.1533T>G (p.Leu511=)
c.1419T>G (p.Leu473=)
c.1416T>G (p.Leu472=)
c.1269T>G (p.Leu423=)
c.375T>G (p.Leu125=)
2g.39022988A>GCA425866789SOS1n.1320T>C
c.207T>C (p.Leu69=)
n.1661T>C
n.1447T>C
c.1329T>C (p.Leu443=)
c.1440T>C (p.Leu480=)
n.284T>C
c.1533T>C (p.Leu511=)
c.1419T>C (p.Leu473=)
c.1416T>C (p.Leu472=)
c.1269T>C (p.Leu423=)
c.375T>C (p.Leu125=)
2g.39022988A>TCA425866788SOS1n.1320T>A
c.207T>A (p.Leu69=)
n.1661T>A
n.1447T>A
c.1329T>A (p.Leu443=)
c.1440T>A (p.Leu480=)
n.284T>A
c.1533T>A (p.Leu511=)
c.1419T>A (p.Leu473=)
c.1416T>A (p.Leu472=)
c.1269T>A (p.Leu423=)
c.375T>A (p.Leu125=)
2g.39022989A>CCA346366167SOS1n.1319T>G
c.206T>G (p.Leu69Arg)
n.1660T>G
n.1446T>G
c.1328T>G (p.Leu443Arg)
c.1439T>G (p.Leu480Arg)
n.283T>G
c.1532T>G (p.Leu511Arg)
c.1418T>G (p.Leu473Arg)
c.1415T>G (p.Leu472Arg)
c.1268T>G (p.Leu423Arg)
c.374T>G (p.Leu125Arg)
2g.39022989A>GCA346366168SOS1n.1319T>C
c.206T>C (p.Leu69Pro)
n.1660T>C
n.1446T>C
c.1328T>C (p.Leu443Pro)
c.1439T>C (p.Leu480Pro)
n.283T>C
c.1532T>C (p.Leu511Pro)
c.1418T>C (p.Leu473Pro)
c.1415T>C (p.Leu472Pro)
c.1268T>C (p.Leu423Pro)
c.374T>C (p.Leu125Pro)
2g.39022989A>TCA346366169SOS1n.1319T>A
c.206T>A (p.Leu69His)
n.1660T>A
n.1446T>A
c.1328T>A (p.Leu443His)
c.1439T>A (p.Leu480His)
n.283T>A
c.1532T>A (p.Leu511His)
c.1418T>A (p.Leu473His)
c.1415T>A (p.Leu472His)
c.1268T>A (p.Leu423His)
c.374T>A (p.Leu125His)
2g.39022990G>ACA346366170SOS1n.1318C>T
c.205C>T (p.Leu69Phe)
n.1659C>T
n.1445C>T
c.1327C>T (p.Leu443Phe)
c.1438C>T (p.Leu480Phe)
n.282C>T
c.1531C>T (p.Leu511Phe)
c.1417C>T (p.Leu473Phe)
c.1414C>T (p.Leu472Phe)
c.1267C>T (p.Leu423Phe)
c.373C>T (p.Leu125Phe)
2g.39022990G>CCA346366171SOS1n.1318C>G
c.205C>G (p.Leu69Val)
n.1659C>G
n.1445C>G
c.1327C>G (p.Leu443Val)
c.1438C>G (p.Leu480Val)
n.282C>G
c.1531C>G (p.Leu511Val)
c.1417C>G (p.Leu473Val)
c.1414C>G (p.Leu472Val)
c.1267C>G (p.Leu423Val)
c.373C>G (p.Leu125Val)
2g.39022990G>TCA346366172SOS1n.1318C>A
c.205C>A (p.Leu69Ile)
n.1659C>A
n.1445C>A
c.1327C>A (p.Leu443Ile)
c.1438C>A (p.Leu480Ile)
n.282C>A
c.1531C>A (p.Leu511Ile)
c.1417C>A (p.Leu473Ile)
c.1414C>A (p.Leu472Ile)
c.1267C>A (p.Leu423Ile)
c.373C>A (p.Leu125Ile)
2g.39022991T>ACA346366173SOS1n.1317A>T
c.204A>T (p.Arg68Ser)
n.1658A>T
n.1444A>T
c.1326A>T (p.Arg442Ser)
c.1437A>T (p.Arg479Ser)
n.281A>T
c.1530A>T (p.Arg510Ser)
c.1416A>T (p.Arg472Ser)
c.1413A>T (p.Arg471Ser)
c.1266A>T (p.Arg422Ser)
c.372A>T (p.Arg124Ser)
2g.39022991T>CCA425866791SOS1n.1317A>G
c.204A>G (p.Arg68=)
n.1658A>G
n.1444A>G
c.1326A>G (p.Arg442=)
c.1437A>G (p.Arg479=)
n.281A>G
c.1530A>G (p.Arg510=)
c.1416A>G (p.Arg472=)
c.1413A>G (p.Arg471=)
c.1266A>G (p.Arg422=)
c.372A>G (p.Arg124=)
 gnomAD v4
2g.39022991T>GCA346366174SOS1n.1317A>C
c.204A>C (p.Arg68Ser)
n.1658A>C
n.1444A>C
c.1326A>C (p.Arg442Ser)
c.1437A>C (p.Arg479Ser)
n.281A>C
c.1530A>C (p.Arg510Ser)
c.1416A>C (p.Arg472Ser)
c.1413A>C (p.Arg471Ser)
c.1266A>C (p.Arg422Ser)
c.372A>C (p.Arg124Ser)
2g.39022992C>ACA346366177SOS1n.1316G>T
c.203G>T (p.Arg68Ile)
n.1657G>T
n.1443G>T
c.1325G>T (p.Arg442Ile)
c.1436G>T (p.Arg479Ile)
n.280G>T
c.1529G>T (p.Arg510Ile)
c.1415G>T (p.Arg472Ile)
c.1412G>T (p.Arg471Ile)
c.1265G>T (p.Arg422Ile)
c.371G>T (p.Arg124Ile)
2g.39022992C>GCA346366175SOS1n.1316G>C
c.203G>C (p.Arg68Thr)
n.1657G>C
n.1443G>C
c.1325G>C (p.Arg442Thr)
c.1436G>C (p.Arg479Thr)
n.280G>C
c.1529G>C (p.Arg510Thr)
c.1415G>C (p.Arg472Thr)
c.1412G>C (p.Arg471Thr)
c.1265G>C (p.Arg422Thr)
c.371G>C (p.Arg124Thr)
2g.39022992C>TCA346366176SOS1n.1316G>A
c.203G>A (p.Arg68Lys)
n.1657G>A
n.1443G>A
c.1325G>A (p.Arg442Lys)
c.1436G>A (p.Arg479Lys)
n.280G>A
c.1529G>A (p.Arg510Lys)
c.1415G>A (p.Arg472Lys)
c.1412G>A (p.Arg471Lys)
c.1265G>A (p.Arg422Lys)
c.371G>A (p.Arg124Lys)
2g.39022993T>ACA346366178SOS1n.1315A>T
c.202A>T (p.Arg68Ter)
n.1656A>T
n.1442A>T
c.1324A>T (p.Arg442Ter)
c.1435A>T (p.Arg479Ter)
n.279A>T
c.1528A>T (p.Arg510Ter)
c.1414A>T (p.Arg472Ter)
c.1411A>T (p.Arg471Ter)
c.1264A>T (p.Arg422Ter)
c.370A>T (p.Arg124Ter)
2g.39022993T>CCA346366179SOS1n.1315A>G
c.202A>G (p.Arg68Gly)
n.1656A>G
n.1442A>G
c.1324A>G (p.Arg442Gly)
c.1435A>G (p.Arg479Gly)
n.279A>G
c.1528A>G (p.Arg510Gly)
c.1414A>G (p.Arg472Gly)
c.1411A>G (p.Arg471Gly)
c.1264A>G (p.Arg422Gly)
c.370A>G (p.Arg124Gly)
2g.39022993T>GCA425866793SOS1n.1315A>C
c.202A>C (p.Arg68=)
n.1656A>C
n.1442A>C
c.1324A>C (p.Arg442=)
c.1435A>C (p.Arg479=)
n.279A>C
c.1528A>C (p.Arg510=)
c.1414A>C (p.Arg472=)
c.1411A>C (p.Arg471=)
c.1264A>C (p.Arg422=)
c.370A>C (p.Arg124=)
2g.39022994T>ACA1624598SOS1n.1314A>T
c.201A>T (p.Pro67=)
n.1655A>T
n.1441A>T
c.1323A>T (p.Pro441=)
c.1434A>T (p.Pro478=)
n.278A>T
c.1527A>T (p.Pro509=)
c.1413A>T (p.Pro471=)
c.1410A>T (p.Pro470=)
c.1263A>T (p.Pro421=)
c.369A>T (p.Pro123=)
 ClinVar dbSNP ExAC gnomAD v2
2g.39022994T>CCA425866794SOS1n.1314A>G
c.201A>G (p.Pro67=)
n.1655A>G
n.1441A>G
c.1323A>G (p.Pro441=)
c.1434A>G (p.Pro478=)
n.278A>G
c.1527A>G (p.Pro509=)
c.1413A>G (p.Pro471=)
c.1410A>G (p.Pro470=)
c.1263A>G (p.Pro421=)
c.369A>G (p.Pro123=)
2g.39022994T>GCA425866795SOS1n.1314A>C
c.201A>C (p.Pro67=)
n.1655A>C
n.1441A>C
c.1323A>C (p.Pro441=)
c.1434A>C (p.Pro478=)
n.278A>C
c.1527A>C (p.Pro509=)
c.1413A>C (p.Pro471=)
c.1410A>C (p.Pro470=)
c.1263A>C (p.Pro421=)
c.369A>C (p.Pro123=)
2g.39022994T=CA1246139899SOS1n.1314A=
c.201A= (p.Pro67=)
n.1655A=
n.1441A=
c.1323A= (p.Pro441=)
c.1434A= (p.Pro478=)
n.278A=
c.1527A= (p.Pro509=)
c.1413A= (p.Pro471=)
c.1410A= (p.Pro470=)
c.1263A= (p.Pro421=)
c.369A= (p.Pro123=)
2g.39022995G>ACA346366180SOS1n.1313C>T
c.200C>T (p.Pro67Leu)
n.1654C>T
n.1440C>T
c.1322C>T (p.Pro441Leu)
c.1433C>T (p.Pro478Leu)
n.277C>T
c.1526C>T (p.Pro509Leu)
c.1412C>T (p.Pro471Leu)
c.1409C>T (p.Pro470Leu)
c.1262C>T (p.Pro421Leu)
c.368C>T (p.Pro123Leu)
 ClinVar dbSNP gnomAD v4
2g.39022995G>CCA346366181SOS1n.1313C>G
c.200C>G (p.Pro67Arg)
n.1654C>G
n.1440C>G
c.1322C>G (p.Pro441Arg)
c.1433C>G (p.Pro478Arg)
n.277C>G
c.1526C>G (p.Pro509Arg)
c.1412C>G (p.Pro471Arg)
c.1409C>G (p.Pro470Arg)
c.1262C>G (p.Pro421Arg)
c.368C>G (p.Pro123Arg)
 ClinVar dbSNP
2g.39022995G=CA1246139905SOS1n.1313C=
c.200C= (p.Pro67=)
n.1654C=
n.1440C=
c.1322C= (p.Pro441=)
c.1433C= (p.Pro478=)
n.277C=
c.1526C= (p.Pro509=)
c.1412C= (p.Pro471=)
c.1409C= (p.Pro470=)
c.1262C= (p.Pro421=)
c.368C= (p.Pro123=)
2g.39022995G>TCA346366182SOS1n.1313C>A
c.200C>A (p.Pro67Gln)
n.1654C>A
n.1440C>A
c.1322C>A (p.Pro441Gln)
c.1433C>A (p.Pro478Gln)
n.277C>A
c.1526C>A (p.Pro509Gln)
c.1412C>A (p.Pro471Gln)
c.1409C>A (p.Pro470Gln)
c.1262C>A (p.Pro421Gln)
c.368C>A (p.Pro123Gln)
2g.39022995_39022997delinsAGACA2586964760SOS1n.1311_1313delinsTCT
c.198_200delinsTCT (p.Gln66_Pro67delinsHisLeu)
n.1652_1654delinsTCT
n.1438_1440delinsTCT
c.1320_1322delinsTCT (p.Gln440_Pro441delinsHisLeu)
c.1431_1433delinsTCT (p.Gln477_Pro478delinsHisLeu)
n.275_277delinsTCT
c.1524_1526delinsTCT (p.Gln508_Pro509delinsHisLeu)
c.1410_1412delinsTCT (p.Gln470_Pro471delinsHisLeu)
c.1407_1409delinsTCT (p.Gln469_Pro470delinsHisLeu)
c.1260_1262delinsTCT (p.Gln420_Pro421delinsHisLeu)
c.366_368delinsTCT (p.Gln122_Pro123delinsHisLeu)
2g.39022996G>ACA346366183SOS1n.1312C>T
c.199C>T (p.Pro67Ser)
n.1653C>T
n.1439C>T
c.1321C>T (p.Pro441Ser)
c.1432C>T (p.Pro478Ser)
n.276C>T
c.1525C>T (p.Pro509Ser)
c.1411C>T (p.Pro471Ser)
c.1408C>T (p.Pro470Ser)
c.1261C>T (p.Pro421Ser)
c.367C>T (p.Pro123Ser)
 ClinVar COSMIC
2g.39022996G>CCA1624599SOS1n.1312C>G
c.199C>G (p.Pro67Ala)
n.1653C>G
n.1439C>G
c.1321C>G (p.Pro441Ala)
c.1432C>G (p.Pro478Ala)
n.276C>G
c.1525C>G (p.Pro509Ala)
c.1411C>G (p.Pro471Ala)
c.1408C>G (p.Pro470Ala)
c.1261C>G (p.Pro421Ala)
c.367C>G (p.Pro123Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.39022996G=CA1246139913SOS1n.1312C=
c.199C= (p.Pro67=)
n.1653C=
n.1439C=
c.1321C= (p.Pro441=)
c.1432C= (p.Pro478=)
n.276C=
c.1525C= (p.Pro509=)
c.1411C= (p.Pro471=)
c.1408C= (p.Pro470=)
c.1261C= (p.Pro421=)
c.367C= (p.Pro123=)
2g.39022996G>TCA346366184SOS1n.1312C>A
c.199C>A (p.Pro67Thr)
n.1653C>A
n.1439C>A
c.1321C>A (p.Pro441Thr)
c.1432C>A (p.Pro478Thr)
n.276C>A
c.1525C>A (p.Pro509Thr)
c.1411C>A (p.Pro471Thr)
c.1408C>A (p.Pro470Thr)
c.1261C>A (p.Pro421Thr)
c.367C>A (p.Pro123Thr)
2g.39022997C>ACA346366185SOS1n.1311G>T
c.198G>T (p.Gln66His)
n.1652G>T
n.1438G>T
c.1320G>T (p.Gln440His)
c.1431G>T (p.Gln477His)
n.275G>T
c.1524G>T (p.Gln508His)
c.1410G>T (p.Gln470His)
c.1407G>T (p.Gln469His)
c.1260G>T (p.Gln420His)
c.366G>T (p.Gln122His)
2g.39022997C>GCA346366186SOS1n.1311G>C
c.198G>C (p.Gln66His)
n.1652G>C
n.1438G>C
c.1320G>C (p.Gln440His)
c.1431G>C (p.Gln477His)
n.275G>C
c.1524G>C (p.Gln508His)
c.1410G>C (p.Gln470His)
c.1407G>C (p.Gln469His)
c.1260G>C (p.Gln420His)
c.366G>C (p.Gln122His)
 gnomAD v4
2g.39022997C>TCA425866799SOS1n.1311G>A
c.198G>A (p.Gln66=)
n.1652G>A
n.1438G>A
c.1320G>A (p.Gln440=)
c.1431G>A (p.Gln477=)
n.275G>A
c.1524G>A (p.Gln508=)
c.1410G>A (p.Gln470=)
c.1407G>A (p.Gln469=)
c.1260G>A (p.Gln420=)
c.366G>A (p.Gln122=)
 ClinVar
2g.39022998T>ACA346366188SOS1n.1310A>T
c.197A>T (p.Gln66Leu)
n.1651A>T
n.1437A>T
c.1319A>T (p.Gln440Leu)
c.1430A>T (p.Gln477Leu)
n.274A>T
c.1523A>T (p.Gln508Leu)
c.1409A>T (p.Gln470Leu)
c.1406A>T (p.Gln469Leu)
c.1259A>T (p.Gln420Leu)
c.365A>T (p.Gln122Leu)
2g.39022998T>CCA297270SOS1n.1310A>G
c.197A>G (p.Gln66Arg)
n.1651A>G
n.1437A>G
c.1319A>G (p.Gln440Arg)
c.1430A>G (p.Gln477Arg)
n.274A>G
c.1523A>G (p.Gln508Arg)
c.1409A>G (p.Gln470Arg)
c.1406A>G (p.Gln469Arg)
c.1259A>G (p.Gln420Arg)
c.365A>G (p.Gln122Arg)
 ClinVar dbSNP
2g.39022998T>GCA346366187SOS1n.1310A>C
c.197A>C (p.Gln66Pro)
n.1651A>C
n.1437A>C
c.1319A>C (p.Gln440Pro)
c.1430A>C (p.Gln477Pro)
n.274A>C
c.1523A>C (p.Gln508Pro)
c.1409A>C (p.Gln470Pro)
c.1406A>C (p.Gln469Pro)
c.1259A>C (p.Gln420Pro)
c.365A>C (p.Gln122Pro)
2g.39022998T=CA1246139919SOS1n.1310A=
c.197A= (p.Gln66=)
n.1651A=
n.1437A=
c.1319A= (p.Gln440=)
c.1430A= (p.Gln477=)
n.274A=
c.1523A= (p.Gln508=)
c.1409A= (p.Gln470=)
c.1406A= (p.Gln469=)
c.1259A= (p.Gln420=)
c.365A= (p.Gln122=)
2g.39022999G>ACA346366189SOS1n.1309C>T
c.196C>T (p.Gln66Ter)
n.1650C>T
n.1436C>T
c.1318C>T (p.Gln440Ter)
c.1429C>T (p.Gln477Ter)
n.273C>T
c.1522C>T (p.Gln508Ter)
c.1408C>T (p.Gln470Ter)
c.1405C>T (p.Gln469Ter)
c.1258C>T (p.Gln420Ter)
c.364C>T (p.Gln122Ter)
2g.39022999G>CCA346366190SOS1n.1309C>G
c.196C>G (p.Gln66Glu)
n.1650C>G
n.1436C>G
c.1318C>G (p.Gln440Glu)
c.1429C>G (p.Gln477Glu)
n.273C>G
c.1522C>G (p.Gln508Glu)
c.1408C>G (p.Gln470Glu)
c.1405C>G (p.Gln469Glu)
c.1258C>G (p.Gln420Glu)
c.364C>G (p.Gln122Glu)
2g.39022999G=CA1246139923SOS1n.1309C=
c.196C= (p.Gln66=)
n.1650C=
n.1436C=
c.1318C= (p.Gln440=)
c.1429C= (p.Gln477=)
n.273C=
c.1522C= (p.Gln508=)
c.1408C= (p.Gln470=)
c.1405C= (p.Gln469=)
c.1258C= (p.Gln420=)
c.364C= (p.Gln122=)
2g.39022999G>TCA136080SOS1n.1309C>A
c.196C>A (p.Gln66Lys)
n.1650C>A
n.1436C>A
c.1318C>A (p.Gln440Lys)
c.1429C>A (p.Gln477Lys)
n.273C>A
c.1522C>A (p.Gln508Lys)
c.1408C>A (p.Gln470Lys)
c.1405C>A (p.Gln469Lys)
c.1258C>A (p.Gln420Lys)
c.364C>A (p.Gln122Lys)
 ClinVar dbSNP
2g.39023000C>ACA425866803SOS1n.1308G>T
c.195G>T (p.Gly65=)
n.1649G>T
n.1435G>T
c.1317G>T (p.Gly439=)
c.1428G>T (p.Gly476=)
n.272G>T
c.1521G>T (p.Gly507=)
c.1407G>T (p.Gly469=)
c.1404G>T (p.Gly468=)
c.1257G>T (p.Gly419=)
c.363G>T (p.Gly121=)
2g.39023000C=CA1246139933SOS1n.1308G=
c.195G= (p.Gly65=)
n.1649G=
n.1435G=
c.1317G= (p.Gly439=)
c.1428G= (p.Gly476=)
n.272G=
c.1521G= (p.Gly507=)
c.1407G= (p.Gly469=)
c.1404G= (p.Gly468=)
c.1257G= (p.Gly419=)
c.363G= (p.Gly121=)
2g.39023000C>GCA425866804SOS1n.1308G>C
c.195G>C (p.Gly65=)
n.1649G>C
n.1435G>C
c.1317G>C (p.Gly439=)
c.1428G>C (p.Gly476=)
n.272G>C
c.1521G>C (p.Gly507=)
c.1407G>C (p.Gly469=)
c.1404G>C (p.Gly468=)
c.1257G>C (p.Gly419=)
c.363G>C (p.Gly121=)
2g.39023000C>TCA45674788SOS1n.1308G>A
c.195G>A (p.Gly65=)
n.1649G>A
n.1435G>A
c.1317G>A (p.Gly439=)
c.1428G>A (p.Gly476=)
n.272G>A
c.1521G>A (p.Gly507=)
c.1407G>A (p.Gly469=)
c.1404G>A (p.Gly468=)
c.1257G>A (p.Gly419=)
c.363G>A (p.Gly121=)
 ClinVar dbSNP gnomAD v4
2g.39023001C>ACA346366191SOS1n.1307G>T
c.194G>T (p.Gly65Val)
n.1648G>T
n.1434G>T
c.1316G>T (p.Gly439Val)
c.1427G>T (p.Gly476Val)
n.271G>T
c.1520G>T (p.Gly507Val)
c.1406G>T (p.Gly469Val)
c.1403G>T (p.Gly468Val)
c.1256G>T (p.Gly419Val)
c.362G>T (p.Gly121Val)
 gnomAD v4
2g.39023001C=CA1246139938SOS1n.1307G=
c.194G= (p.Gly65=)
n.1648G=
n.1434G=
c.1316G= (p.Gly439=)
c.1427G= (p.Gly476=)
n.271G=
c.1520G= (p.Gly507=)
c.1406G= (p.Gly469=)
c.1403G= (p.Gly468=)
c.1256G= (p.Gly419=)
c.362G= (p.Gly121=)
2g.39023001C>GCA346366192SOS1n.1307G>C
c.194G>C (p.Gly65Ala)
n.1648G>C
n.1434G>C
c.1316G>C (p.Gly439Ala)
c.1427G>C (p.Gly476Ala)
n.271G>C
c.1520G>C (p.Gly507Ala)
c.1406G>C (p.Gly469Ala)
c.1403G>C (p.Gly468Ala)
c.1256G>C (p.Gly419Ala)
c.362G>C (p.Gly121Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.39023001C>TCA346366193SOS1n.1307G>A
c.194G>A (p.Gly65Glu)
n.1648G>A
n.1434G>A
c.1316G>A (p.Gly439Glu)
c.1427G>A (p.Gly476Glu)
n.271G>A
c.1520G>A (p.Gly507Glu)
c.1406G>A (p.Gly469Glu)
c.1403G>A (p.Gly468Glu)
c.1256G>A (p.Gly419Glu)
c.362G>A (p.Gly121Glu)
2g.39023002C>ACA346366196SOS1n.1306G>T
c.193G>T (p.Gly65Trp)
n.1647G>T
n.1433G>T
c.1315G>T (p.Gly439Trp)
c.1426G>T (p.Gly476Trp)
n.270G>T
c.1519G>T (p.Gly507Trp)
c.1405G>T (p.Gly469Trp)
c.1402G>T (p.Gly468Trp)
c.1255G>T (p.Gly419Trp)
c.361G>T (p.Gly121Trp)
 ClinVar
2g.39023002C>GCA346366194SOS1n.1306G>C
c.193G>C (p.Gly65Arg)
n.1647G>C
n.1433G>C
c.1315G>C (p.Gly439Arg)
c.1426G>C (p.Gly476Arg)
n.270G>C
c.1519G>C (p.Gly507Arg)
c.1405G>C (p.Gly469Arg)
c.1402G>C (p.Gly468Arg)
c.1255G>C (p.Gly419Arg)
c.361G>C (p.Gly121Arg)
2g.39023002C>TCA346366195SOS1n.1306G>A
c.193G>A (p.Gly65Arg)
n.1647G>A
n.1433G>A
c.1315G>A (p.Gly439Arg)
c.1426G>A (p.Gly476Arg)
n.270G>A
c.1519G>A (p.Gly507Arg)
c.1405G>A (p.Gly469Arg)
c.1402G>A (p.Gly468Arg)
c.1255G>A (p.Gly419Arg)
c.361G>A (p.Gly121Arg)
 ClinVar
2g.39023003A=CA1246139941SOS1n.1305T=
c.192T= (p.His64=)
n.1646T=
n.1432T=
c.1314T= (p.His438=)
c.1425T= (p.His475=)
n.269T=
c.1518T= (p.His506=)
c.1404T= (p.His468=)
c.1401T= (p.His467=)
c.1254T= (p.His418=)
c.360T= (p.His120=)
2g.39023003A>CCA346366197SOS1n.1305T>G
c.192T>G (p.His64Gln)
n.1646T>G
n.1432T>G
c.1314T>G (p.His438Gln)
c.1425T>G (p.His475Gln)
n.269T>G
c.1518T>G (p.His506Gln)
c.1404T>G (p.His468Gln)
c.1401T>G (p.His467Gln)
c.1254T>G (p.His418Gln)
c.360T>G (p.His120Gln)
 dbSNP
2g.39023003A>GCA425866806SOS1n.1305T>C
c.192T>C (p.His64=)
n.1646T>C
n.1432T>C
c.1314T>C (p.His438=)
c.1425T>C (p.His475=)
n.269T>C
c.1518T>C (p.His506=)
c.1404T>C (p.His468=)
c.1401T>C (p.His467=)
c.1254T>C (p.His418=)
c.360T>C (p.His120=)
 dbSNP
2g.39023003A>TCA346366198SOS1n.1305T>A
c.192T>A (p.His64Gln)
n.1646T>A
n.1432T>A
c.1314T>A (p.His438Gln)
c.1425T>A (p.His475Gln)
n.269T>A
c.1518T>A (p.His506Gln)
c.1404T>A (p.His468Gln)
c.1401T>A (p.His467Gln)
c.1254T>A (p.His418Gln)
c.360T>A (p.His120Gln)
2g.39023004T>ACA346366199SOS1n.1304A>T
c.191A>T (p.His64Leu)
n.1645A>T
n.1431A>T
c.1313A>T (p.His438Leu)
c.1424A>T (p.His475Leu)
n.268A>T
c.1517A>T (p.His506Leu)
c.1403A>T (p.His468Leu)
c.1400A>T (p.His467Leu)
c.1253A>T (p.His418Leu)
c.359A>T (p.His120Leu)
 ClinVar
2g.39023004T>CCA45674791SOS1n.1304A>G
c.191A>G (p.His64Arg)
n.1645A>G
n.1431A>G
c.1313A>G (p.His438Arg)
c.1424A>G (p.His475Arg)
n.268A>G
c.1517A>G (p.His506Arg)
c.1403A>G (p.His468Arg)
c.1400A>G (p.His467Arg)
c.1253A>G (p.His418Arg)
c.359A>G (p.His120Arg)
 dbSNP
2g.39023004T>GCA346366200SOS1n.1304A>C
c.191A>C (p.His64Pro)
n.1645A>C
n.1431A>C
c.1313A>C (p.His438Pro)
c.1424A>C (p.His475Pro)
n.268A>C
c.1517A>C (p.His506Pro)
c.1403A>C (p.His468Pro)
c.1400A>C (p.His467Pro)
c.1253A>C (p.His418Pro)
c.359A>C (p.His120Pro)
2g.39023004T=CA1246139943SOS1n.1304A=
c.191A= (p.His64=)
n.1645A=
n.1431A=
c.1313A= (p.His438=)
c.1424A= (p.His475=)
n.268A=
c.1517A= (p.His506=)
c.1403A= (p.His468=)
c.1400A= (p.His467=)
c.1253A= (p.His418=)
c.359A= (p.His120=)
2g.39023005G>ACA346366201SOS1n.1303C>T
c.190C>T (p.His64Tyr)
n.1644C>T
n.1430C>T
c.1312C>T (p.His438Tyr)
c.1423C>T (p.His475Tyr)
n.267C>T
c.1516C>T (p.His506Tyr)
c.1402C>T (p.His468Tyr)
c.1399C>T (p.His467Tyr)
c.1252C>T (p.His418Tyr)
c.358C>T (p.His120Tyr)
2g.39023005G>CCA346366203SOS1n.1303C>G
c.190C>G (p.His64Asp)
n.1644C>G
n.1430C>G
c.1312C>G (p.His438Asp)
c.1423C>G (p.His475Asp)
n.267C>G
c.1516C>G (p.His506Asp)
c.1402C>G (p.His468Asp)
c.1399C>G (p.His467Asp)
c.1252C>G (p.His418Asp)
c.358C>G (p.His120Asp)
2g.39023005G>TCA346366202SOS1n.1303C>A
c.190C>A (p.His64Asn)
n.1644C>A
n.1430C>A
c.1312C>A (p.His438Asn)
c.1423C>A (p.His475Asn)
n.267C>A
c.1516C>A (p.His506Asn)
c.1402C>A (p.His468Asn)
c.1399C>A (p.His467Asn)
c.1252C>A (p.His418Asn)
c.358C>A (p.His120Asn)
2g.39023006A>CCA346366204SOS1n.1302T>G
c.189T>G (p.Asn63Lys)
n.1643T>G
n.1429T>G
c.1311T>G (p.Asn437Lys)
c.1422T>G (p.Asn474Lys)
n.266T>G
c.1515T>G (p.Asn505Lys)
c.1401T>G (p.Asn467Lys)
c.1398T>G (p.Asn466Lys)
c.1251T>G (p.Asn417Lys)
c.357T>G (p.Asn119Lys)
2g.39023006A>GCA425866807SOS1n.1302T>C
c.189T>C (p.Asn63=)
n.1643T>C
n.1429T>C
c.1311T>C (p.Asn437=)
c.1422T>C (p.Asn474=)
n.266T>C
c.1515T>C (p.Asn505=)
c.1401T>C (p.Asn467=)
c.1398T>C (p.Asn466=)
c.1251T>C (p.Asn417=)
c.357T>C (p.Asn119=)
 COSMIC
2g.39023006A>TCA346366205SOS1n.1302T>A
c.189T>A (p.Asn63Lys)
n.1643T>A
n.1429T>A
c.1311T>A (p.Asn437Lys)
c.1422T>A (p.Asn474Lys)
n.266T>A
c.1515T>A (p.Asn505Lys)
c.1401T>A (p.Asn467Lys)
c.1398T>A (p.Asn466Lys)
c.1251T>A (p.Asn417Lys)
c.357T>A (p.Asn119Lys)
 ClinVar
2g.39023007T>ACA346366206SOS1n.1301A>T
c.188A>T (p.Asn63Ile)
n.1642A>T
n.1428A>T
c.1310A>T (p.Asn437Ile)
c.1421A>T (p.Asn474Ile)
n.265A>T
c.1514A>T (p.Asn505Ile)
c.1400A>T (p.Asn467Ile)
c.1397A>T (p.Asn466Ile)
c.1250A>T (p.Asn417Ile)
c.356A>T (p.Asn119Ile)
2g.39023007T>CCA1624600SOS1n.1301A>G
c.188A>G (p.Asn63Ser)
n.1642A>G
n.1428A>G
c.1310A>G (p.Asn437Ser)
c.1421A>G (p.Asn474Ser)
n.265A>G
c.1514A>G (p.Asn505Ser)
c.1400A>G (p.Asn467Ser)
c.1397A>G (p.Asn466Ser)
c.1250A>G (p.Asn417Ser)
c.356A>G (p.Asn119Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.39023007T>GCA346366207SOS1n.1301A>C
c.188A>C (p.Asn63Thr)
n.1642A>C
n.1428A>C
c.1310A>C (p.Asn437Thr)
c.1421A>C (p.Asn474Thr)
n.265A>C
c.1514A>C (p.Asn505Thr)
c.1400A>C (p.Asn467Thr)
c.1397A>C (p.Asn466Thr)
c.1250A>C (p.Asn417Thr)
c.356A>C (p.Asn119Thr)
2g.39023007T=CA1246139946SOS1n.1301A=
c.188A= (p.Asn63=)
n.1642A=
n.1428A=
c.1310A= (p.Asn437=)
c.1421A= (p.Asn474=)
n.265A=
c.1514A= (p.Asn505=)
c.1400A= (p.Asn467=)
c.1397A= (p.Asn466=)
c.1250A= (p.Asn417=)
c.356A= (p.Asn119=)
2g.39023008T>ACA346366208SOS1n.1300A>T
c.187A>T (p.Asn63Tyr)
n.1641A>T
n.1427A>T
c.1309A>T (p.Asn437Tyr)
c.1420A>T (p.Asn474Tyr)
n.264A>T
c.1513A>T (p.Asn505Tyr)
c.1399A>T (p.Asn467Tyr)
c.1396A>T (p.Asn466Tyr)
c.1249A>T (p.Asn417Tyr)
c.355A>T (p.Asn119Tyr)
2g.39023008T>CCA346366209SOS1n.1300A>G
c.187A>G (p.Asn63Asp)
n.1641A>G
n.1427A>G
c.1309A>G (p.Asn437Asp)
c.1420A>G (p.Asn474Asp)
n.264A>G
c.1513A>G (p.Asn505Asp)
c.1399A>G (p.Asn467Asp)
c.1396A>G (p.Asn466Asp)
c.1249A>G (p.Asn417Asp)
c.355A>G (p.Asn119Asp)
2g.39023008T>GCA346366210SOS1n.1300A>C
c.187A>C (p.Asn63His)
n.1641A>C
n.1427A>C
c.1309A>C (p.Asn437His)
c.1420A>C (p.Asn474His)
n.264A>C
c.1513A>C (p.Asn505His)
c.1399A>C (p.Asn467His)
c.1396A>C (p.Asn466His)
c.1249A>C (p.Asn417His)
c.355A>C (p.Asn119His)
 gnomAD v4
2g.39023009T>ACA425866812SOS1n.1299A>T
c.186A>T (p.Ser62=)
n.1640A>T
n.1426A>T
c.1308A>T (p.Ser436=)
c.1419A>T (p.Ser473=)
n.263A>T
c.1512A>T (p.Ser504=)
c.1398A>T (p.Ser466=)
c.1395A>T (p.Ser465=)
c.1248A>T (p.Ser416=)
c.354A>T (p.Ser118=)
2g.39023009T>CCA425866810SOS1n.1299A>G
c.186A>G (p.Ser62=)
n.1640A>G
n.1426A>G
c.1308A>G (p.Ser436=)
c.1419A>G (p.Ser473=)
n.263A>G
c.1512A>G (p.Ser504=)
c.1398A>G (p.Ser466=)
c.1395A>G (p.Ser465=)
c.1248A>G (p.Ser416=)
c.354A>G (p.Ser118=)
2g.39023009T>GCA425866811SOS1n.1299A>C
c.186A>C (p.Ser62=)
n.1640A>C
n.1426A>C
c.1308A>C (p.Ser436=)
c.1419A>C (p.Ser473=)
n.263A>C
c.1512A>C (p.Ser504=)
c.1398A>C (p.Ser466=)
c.1395A>C (p.Ser465=)
c.1248A>C (p.Ser416=)
c.354A>C (p.Ser118=)
2g.39023010G>ACA346366211SOS1n.1298C>T
c.185C>T (p.Ser62Leu)
n.1639C>T
n.1425C>T
c.1307C>T (p.Ser436Leu)
c.1418C>T (p.Ser473Leu)
n.262C>T
c.1511C>T (p.Ser504Leu)
c.1397C>T (p.Ser466Leu)
c.1394C>T (p.Ser465Leu)
c.1247C>T (p.Ser416Leu)
c.353C>T (p.Ser118Leu)
2g.39023010G>CCA346366212SOS1n.1298C>G
c.185C>G (p.Ser62Ter)
n.1639C>G
n.1425C>G
c.1307C>G (p.Ser436Ter)
c.1418C>G (p.Ser473Ter)
n.262C>G
c.1511C>G (p.Ser504Ter)
c.1397C>G (p.Ser466Ter)
c.1394C>G (p.Ser465Ter)
c.1247C>G (p.Ser416Ter)
c.353C>G (p.Ser118Ter)
2g.39023010G>TCA346366213SOS1n.1298C>A
c.185C>A (p.Ser62Ter)
n.1639C>A
n.1425C>A
c.1307C>A (p.Ser436Ter)
c.1418C>A (p.Ser473Ter)
n.262C>A
c.1511C>A (p.Ser504Ter)
c.1397C>A (p.Ser466Ter)
c.1394C>A (p.Ser465Ter)
c.1247C>A (p.Ser416Ter)
c.353C>A (p.Ser118Ter)
2g.39023011A>CCA346366216SOS1n.1297T>G
c.184T>G (p.Ser62Ala)
n.1638T>G
n.1424T>G
c.1306T>G (p.Ser436Ala)
c.1417T>G (p.Ser473Ala)
n.261T>G
c.1510T>G (p.Ser504Ala)
c.1396T>G (p.Ser466Ala)
c.1393T>G (p.Ser465Ala)
c.1246T>G (p.Ser416Ala)
c.352T>G (p.Ser118Ala)
2g.39023011A>GCA346366215SOS1n.1297T>C
c.184T>C (p.Ser62Pro)
n.1638T>C
n.1424T>C
c.1306T>C (p.Ser436Pro)
c.1417T>C (p.Ser473Pro)
n.261T>C
c.1510T>C (p.Ser504Pro)
c.1396T>C (p.Ser466Pro)
c.1393T>C (p.Ser465Pro)
c.1246T>C (p.Ser416Pro)
c.352T>C (p.Ser118Pro)
2g.39023011A>TCA346366214SOS1n.1297T>A
c.184T>A (p.Ser62Thr)
n.1638T>A
n.1424T>A
c.1306T>A (p.Ser436Thr)
c.1417T>A (p.Ser473Thr)
n.261T>A
c.1510T>A (p.Ser504Thr)
c.1396T>A (p.Ser466Thr)
c.1393T>A (p.Ser465Thr)
c.1246T>A (p.Ser416Thr)
c.352T>A (p.Ser118Thr)
2g.39023012T>ACA346366217SOS1n.1296A>T
c.183A>T (p.Lys61Asn)
n.1637A>T
n.1423A>T
c.1305A>T (p.Lys435Asn)
c.1416A>T (p.Lys472Asn)
n.260A>T
c.1509A>T (p.Lys503Asn)
c.1395A>T (p.Lys465Asn)
c.1392A>T (p.Lys464Asn)
c.1245A>T (p.Lys415Asn)
c.351A>T (p.Lys117Asn)
2g.39023012T>CCA425866814SOS1n.1296A>G
c.183A>G (p.Lys61=)
n.1637A>G
n.1423A>G
c.1305A>G (p.Lys435=)
c.1416A>G (p.Lys472=)
n.260A>G
c.1509A>G (p.Lys503=)
c.1395A>G (p.Lys465=)
c.1392A>G (p.Lys464=)
c.1245A>G (p.Lys415=)
c.351A>G (p.Lys117=)
 gnomAD v4
2g.39023012T>GCA346366218SOS1n.1296A>C
c.183A>C (p.Lys61Asn)
n.1637A>C
n.1423A>C
c.1305A>C (p.Lys435Asn)
c.1416A>C (p.Lys472Asn)
n.260A>C
c.1509A>C (p.Lys503Asn)
c.1395A>C (p.Lys465Asn)
c.1392A>C (p.Lys464Asn)
c.1245A>C (p.Lys415Asn)
c.351A>C (p.Lys117Asn)
2g.39023013T>ACA346366219SOS1n.1295A>T
c.182A>T (p.Lys61Ile)
n.1636A>T
n.1422A>T
c.1304A>T (p.Lys435Ile)
c.1415A>T (p.Lys472Ile)
n.259A>T
c.1508A>T (p.Lys503Ile)
c.1394A>T (p.Lys465Ile)
c.1391A>T (p.Lys464Ile)
c.1244A>T (p.Lys415Ile)
c.350A>T (p.Lys117Ile)
2g.39023013T>CCA346366220SOS1n.1295A>G
c.182A>G (p.Lys61Arg)
n.1636A>G
n.1422A>G
c.1304A>G (p.Lys435Arg)
c.1415A>G (p.Lys472Arg)
n.259A>G
c.1508A>G (p.Lys503Arg)
c.1394A>G (p.Lys465Arg)
c.1391A>G (p.Lys464Arg)
c.1244A>G (p.Lys415Arg)
c.350A>G (p.Lys117Arg)
2g.39023013T>GCA346366221SOS1n.1295A>C
c.182A>C (p.Lys61Thr)
n.1636A>C
n.1422A>C
c.1304A>C (p.Lys435Thr)
c.1415A>C (p.Lys472Thr)
n.259A>C
c.1508A>C (p.Lys503Thr)
c.1394A>C (p.Lys465Thr)
c.1391A>C (p.Lys464Thr)
c.1244A>C (p.Lys415Thr)
c.350A>C (p.Lys117Thr)
2g.39023014T>ACA346366222SOS1n.1294A>T
c.181A>T (p.Lys61Ter)
n.1635A>T
n.1421A>T
c.1303A>T (p.Lys435Ter)
c.1414A>T (p.Lys472Ter)
n.258A>T
c.1507A>T (p.Lys503Ter)
c.1393A>T (p.Lys465Ter)
c.1390A>T (p.Lys464Ter)
c.1243A>T (p.Lys415Ter)
c.349A>T (p.Lys117Ter)
2g.39023014T>CCA346366223SOS1n.1294A>G
c.181A>G (p.Lys61Glu)
n.1635A>G
n.1421A>G
c.1303A>G (p.Lys435Glu)
c.1414A>G (p.Lys472Glu)
n.258A>G
c.1507A>G (p.Lys503Glu)
c.1393A>G (p.Lys465Glu)
c.1390A>G (p.Lys464Glu)
c.1243A>G (p.Lys415Glu)
c.349A>G (p.Lys117Glu)
2g.39023014T>GCA346366224SOS1n.1294A>C
c.181A>C (p.Lys61Gln)
n.1635A>C
n.1421A>C
c.1303A>C (p.Lys435Gln)
c.1414A>C (p.Lys472Gln)
n.258A>C
c.1507A>C (p.Lys503Gln)
c.1393A>C (p.Lys465Gln)
c.1390A>C (p.Lys464Gln)
c.1243A>C (p.Lys415Gln)
c.349A>C (p.Lys117Gln)
2g.39023015A>CCA346366225SOS1n.1293T>G
c.180T>G (p.Cys60Trp)
n.1634T>G
n.1420T>G
c.1302T>G (p.Cys434Trp)
c.1413T>G (p.Cys471Trp)
n.257T>G
c.1506T>G (p.Cys502Trp)
c.1392T>G (p.Cys464Trp)
c.1389T>G (p.Cys463Trp)
c.1242T>G (p.Cys414Trp)
c.348T>G (p.Cys116Trp)
2g.39023015A>GCA425866815SOS1n.1293T>C
c.180T>C (p.Cys60=)
n.1634T>C
n.1420T>C
c.1302T>C (p.Cys434=)
c.1413T>C (p.Cys471=)
n.257T>C
c.1506T>C (p.Cys502=)
c.1392T>C (p.Cys464=)
c.1389T>C (p.Cys463=)
c.1242T>C (p.Cys414=)
c.348T>C (p.Cys116=)
2g.39023015A>TCA346366226SOS1n.1293T>A
c.180T>A (p.Cys60Ter)
n.1634T>A
n.1420T>A
c.1302T>A (p.Cys434Ter)
c.1413T>A (p.Cys471Ter)
n.257T>A
c.1506T>A (p.Cys502Ter)
c.1392T>A (p.Cys464Ter)
c.1389T>A (p.Cys463Ter)
c.1242T>A (p.Cys414Ter)
c.348T>A (p.Cys116Ter)
2g.39023016C>ACA346366227SOS1n.1292G>T
c.179G>T (p.Cys60Phe)
n.1633G>T
n.1419G>T
c.1301G>T (p.Cys434Phe)
c.1412G>T (p.Cys471Phe)
n.256G>T
c.1505G>T (p.Cys502Phe)
c.1391G>T (p.Cys464Phe)
c.1388G>T (p.Cys463Phe)
c.1241G>T (p.Cys414Phe)
c.347G>T (p.Cys116Phe)
 ClinVar
2g.39023016C=CA1246139952SOS1n.1292G=
c.179G= (p.Cys60=)
n.1633G=
n.1419G=
c.1301G= (p.Cys434=)
c.1412G= (p.Cys471=)
n.256G=
c.1505G= (p.Cys502=)
c.1391G= (p.Cys464=)
c.1388G= (p.Cys463=)
c.1241G= (p.Cys414=)
c.347G= (p.Cys116=)
2g.39023016C>GCA261721SOS1n.1292G>C
c.179G>C (p.Cys60Ser)
n.1633G>C
n.1419G>C
c.1301G>C (p.Cys434Ser)
c.1412G>C (p.Cys471Ser)
n.256G>C
c.1505G>C (p.Cys502Ser)
c.1391G>C (p.Cys464Ser)
c.1388G>C (p.Cys463Ser)
c.1241G>C (p.Cys414Ser)
c.347G>C (p.Cys116Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.39023016C>TCA346366228SOS1n.1292G>A
c.179G>A (p.Cys60Tyr)
n.1633G>A
n.1419G>A
c.1301G>A (p.Cys434Tyr)
c.1412G>A (p.Cys471Tyr)
n.256G>A
c.1505G>A (p.Cys502Tyr)
c.1391G>A (p.Cys464Tyr)
c.1388G>A (p.Cys463Tyr)
c.1241G>A (p.Cys414Tyr)
c.347G>A (p.Cys116Tyr)
 ClinVar dbSNP gnomAD v4
2g.39023017A>CCA346366231SOS1n.1291T>G
c.178T>G (p.Cys60Gly)
n.1632T>G
n.1418T>G
c.1300T>G (p.Cys434Gly)
c.1411T>G (p.Cys471Gly)
n.255T>G
c.1504T>G (p.Cys502Gly)
c.1390T>G (p.Cys464Gly)
c.1387T>G (p.Cys463Gly)
c.1240T>G (p.Cys414Gly)
c.346T>G (p.Cys116Gly)
2g.39023017A>GCA346366230SOS1n.1291T>C
c.178T>C (p.Cys60Arg)
n.1632T>C
n.1418T>C
c.1300T>C (p.Cys434Arg)
c.1411T>C (p.Cys471Arg)
n.255T>C
c.1504T>C (p.Cys502Arg)
c.1390T>C (p.Cys464Arg)
c.1387T>C (p.Cys463Arg)
c.1240T>C (p.Cys414Arg)
c.346T>C (p.Cys116Arg)
2g.39023017A>TCA346366229SOS1n.1291T>A
c.178T>A (p.Cys60Ser)
n.1632T>A
n.1418T>A
c.1300T>A (p.Cys434Ser)
c.1411T>A (p.Cys471Ser)
n.255T>A
c.1504T>A (p.Cys502Ser)
c.1390T>A (p.Cys464Ser)
c.1387T>A (p.Cys463Ser)
c.1240T>A (p.Cys414Ser)
c.346T>A (p.Cys116Ser)
2g.39023018G>ACA425866816SOS1n.1290C>T
c.177C>T (p.Cys59=)
n.1631C>T
n.1417C>T
c.1299C>T (p.Cys433=)
c.1410C>T (p.Cys470=)
n.254C>T
c.1503C>T (p.Cys501=)
c.1389C>T (p.Cys463=)
c.1386C>T (p.Cys462=)
c.1239C>T (p.Cys413=)
c.345C>T (p.Cys115=)
2g.39023018G>CCA346366232SOS1n.1290C>G
c.177C>G (p.Cys59Trp)
n.1631C>G
n.1417C>G
c.1299C>G (p.Cys433Trp)
c.1410C>G (p.Cys470Trp)
n.254C>G
c.1503C>G (p.Cys501Trp)
c.1389C>G (p.Cys463Trp)
c.1386C>G (p.Cys462Trp)
c.1239C>G (p.Cys413Trp)
c.345C>G (p.Cys115Trp)
2g.39023018G>TCA346366233SOS1n.1290C>A
c.177C>A (p.Cys59Ter)
n.1631C>A
n.1417C>A
c.1299C>A (p.Cys433Ter)
c.1410C>A (p.Cys470Ter)
n.254C>A
c.1503C>A (p.Cys501Ter)
c.1389C>A (p.Cys463Ter)
c.1386C>A (p.Cys462Ter)
c.1239C>A (p.Cys413Ter)
c.345C>A (p.Cys115Ter)
2g.39023019C>ACA346366234SOS1n.1289G>T
c.176G>T (p.Cys59Phe)
n.1630G>T
n.1416G>T
c.1298G>T (p.Cys433Phe)
c.1409G>T (p.Cys470Phe)
n.253G>T
c.1502G>T (p.Cys501Phe)
c.1388G>T (p.Cys463Phe)
c.1385G>T (p.Cys462Phe)
c.1238G>T (p.Cys413Phe)
c.344G>T (p.Cys115Phe)
2g.39023019C>GCA346366235SOS1n.1289G>C
c.176G>C (p.Cys59Ser)
n.1630G>C
n.1416G>C
c.1298G>C (p.Cys433Ser)
c.1409G>C (p.Cys470Ser)
n.253G>C
c.1502G>C (p.Cys501Ser)
c.1388G>C (p.Cys463Ser)
c.1385G>C (p.Cys462Ser)
c.1238G>C (p.Cys413Ser)
c.344G>C (p.Cys115Ser)
2g.39023019C>TCA346366236SOS1n.1289G>A
c.176G>A (p.Cys59Tyr)
n.1630G>A
n.1416G>A
c.1298G>A (p.Cys433Tyr)
c.1409G>A (p.Cys470Tyr)
n.253G>A
c.1502G>A (p.Cys501Tyr)
c.1388G>A (p.Cys463Tyr)
c.1385G>A (p.Cys462Tyr)
c.1238G>A (p.Cys413Tyr)
c.344G>A (p.Cys115Tyr)
 gnomAD v4
2g.39023020A>CCA346366237SOS1n.1288T>G
c.175T>G (p.Cys59Gly)
n.1629T>G
n.1415T>G
c.1297T>G (p.Cys433Gly)
c.1408T>G (p.Cys470Gly)
n.252T>G
c.1501T>G (p.Cys501Gly)
c.1387T>G (p.Cys463Gly)
c.1384T>G (p.Cys462Gly)
c.1237T>G (p.Cys413Gly)
c.343T>G (p.Cys115Gly)
2g.39023020A>GCA346366238SOS1n.1288T>C
c.175T>C (p.Cys59Arg)
n.1629T>C
n.1415T>C
c.1297T>C (p.Cys433Arg)
c.1408T>C (p.Cys470Arg)
n.252T>C
c.1501T>C (p.Cys501Arg)
c.1387T>C (p.Cys463Arg)
c.1384T>C (p.Cys462Arg)
c.1237T>C (p.Cys413Arg)
c.343T>C (p.Cys115Arg)
2g.39023020A>TCA346366239SOS1n.1288T>A
c.175T>A (p.Cys59Ser)
n.1629T>A
n.1415T>A
c.1297T>A (p.Cys433Ser)
c.1408T>A (p.Cys470Ser)
n.252T>A
c.1501T>A (p.Cys501Ser)
c.1387T>A (p.Cys463Ser)
c.1384T>A (p.Cys462Ser)
c.1237T>A (p.Cys413Ser)
c.343T>A (p.Cys115Ser)
2g.39023021A=CA1246139959SOS1n.1287T=
c.174T= (p.Ile58=)
n.1628T=
n.1414T=
c.1296T= (p.Ile432=)
c.1407T= (p.Ile469=)
n.251T=
c.1500T= (p.Ile500=)
c.1386T= (p.Ile462=)
c.1383T= (p.Ile461=)
c.1236T= (p.Ile412=)
c.342T= (p.Ile114=)
2g.39023021A>CCA346366240SOS1n.1287T>G
c.174T>G (p.Ile58Met)
n.1628T>G
n.1414T>G
c.1296T>G (p.Ile432Met)
c.1407T>G (p.Ile469Met)
n.251T>G
c.1500T>G (p.Ile500Met)
c.1386T>G (p.Ile462Met)
c.1383T>G (p.Ile461Met)
c.1236T>G (p.Ile412Met)
c.342T>G (p.Ile114Met)
2g.39023021A>GCA425866817SOS1n.1287T>C
c.174T>C (p.Ile58=)
n.1628T>C
n.1414T>C
c.1296T>C (p.Ile432=)
c.1407T>C (p.Ile469=)
n.251T>C
c.1500T>C (p.Ile500=)
c.1386T>C (p.Ile462=)
c.1383T>C (p.Ile461=)
c.1236T>C (p.Ile412=)
c.342T>C (p.Ile114=)
2g.39023021A>TCA425866818SOS1n.1287T>A
c.174T>A (p.Ile58=)
n.1628T>A
n.1414T>A
c.1296T>A (p.Ile432=)
c.1407T>A (p.Ile469=)
n.251T>A
c.1500T>A (p.Ile500=)
c.1386T>A (p.Ile462=)
c.1383T>A (p.Ile461=)
c.1236T>A (p.Ile412=)
c.342T>A (p.Ile114=)
 dbSNP gnomAD v4
2g.39023022A>CCA346366241SOS1n.1286T>G
c.173T>G (p.Ile58Ser)
n.1627T>G
n.1413T>G
c.1295T>G (p.Ile432Ser)
c.1406T>G (p.Ile469Ser)
n.250T>G
c.1499T>G (p.Ile500Ser)
c.1385T>G (p.Ile462Ser)
c.1382T>G (p.Ile461Ser)
c.1235T>G (p.Ile412Ser)
c.341T>G (p.Ile114Ser)
2g.39023022A>GCA346366242SOS1n.1286T>C
c.173T>C (p.Ile58Thr)
n.1627T>C
n.1413T>C
c.1295T>C (p.Ile432Thr)
c.1406T>C (p.Ile469Thr)
n.250T>C
c.1499T>C (p.Ile500Thr)
c.1385T>C (p.Ile462Thr)
c.1382T>C (p.Ile461Thr)
c.1235T>C (p.Ile412Thr)
c.341T>C (p.Ile114Thr)
2g.39023022A>TCA346366243SOS1n.1286T>A
c.173T>A (p.Ile58Asn)
n.1627T>A
n.1413T>A
c.1295T>A (p.Ile432Asn)
c.1406T>A (p.Ile469Asn)
n.250T>A
c.1499T>A (p.Ile500Asn)
c.1385T>A (p.Ile462Asn)
c.1382T>A (p.Ile461Asn)
c.1235T>A (p.Ile412Asn)
c.341T>A (p.Ile114Asn)
2g.39023023T>ACA346366245SOS1n.1285A>T
c.172A>T (p.Ile58Phe)
n.1626A>T
n.1412A>T
c.1294A>T (p.Ile432Phe)
c.1405A>T (p.Ile469Phe)
n.249A>T
c.1498A>T (p.Ile500Phe)
c.1384A>T (p.Ile462Phe)
c.1381A>T (p.Ile461Phe)
c.1234A>T (p.Ile412Phe)
c.340A>T (p.Ile114Phe)
 ClinVar
2g.39023023T>CCA346366246SOS1n.1285A>G
c.172A>G (p.Ile58Val)
n.1626A>G
n.1412A>G
c.1294A>G (p.Ile432Val)
c.1405A>G (p.Ile469Val)
n.249A>G
c.1498A>G (p.Ile500Val)
c.1384A>G (p.Ile462Val)
c.1381A>G (p.Ile461Val)
c.1234A>G (p.Ile412Val)
c.340A>G (p.Ile114Val)
2g.39023023T>GCA346366244SOS1n.1285A>C
c.172A>C (p.Ile58Leu)
n.1626A>C
n.1412A>C
c.1294A>C (p.Ile432Leu)
c.1405A>C (p.Ile469Leu)
n.249A>C
c.1498A>C (p.Ile500Leu)
c.1384A>C (p.Ile462Leu)
c.1381A>C (p.Ile461Leu)
c.1234A>C (p.Ile412Leu)
c.340A>C (p.Ile114Leu)
2g.39023024C>ACA346366247SOS1n.1284G>T
c.171G>T (p.Met57Ile)
n.1625G>T
n.1411G>T
c.1293G>T (p.Met431Ile)
c.1404G>T (p.Met468Ile)
n.248G>T
c.1497G>T (p.Met499Ile)
c.1383G>T (p.Met461Ile)
c.1380G>T (p.Met460Ile)
c.1233G>T (p.Met411Ile)
c.339G>T (p.Met113Ile)
 gnomAD v4
2g.39023024C>GCA346366248SOS1n.1284G>C
c.171G>C (p.Met57Ile)
n.1625G>C
n.1411G>C
c.1293G>C (p.Met431Ile)
c.1404G>C (p.Met468Ile)
n.248G>C
c.1497G>C (p.Met499Ile)
c.1383G>C (p.Met461Ile)
c.1380G>C (p.Met460Ile)
c.1233G>C (p.Met411Ile)
c.339G>C (p.Met113Ile)
2g.39023024C>TCA346366249SOS1n.1284G>A
c.171G>A (p.Met57Ile)
n.1625G>A
n.1411G>A
c.1293G>A (p.Met431Ile)
c.1404G>A (p.Met468Ile)
n.248G>A
c.1497G>A (p.Met499Ile)
c.1383G>A (p.Met461Ile)
c.1380G>A (p.Met460Ile)
c.1233G>A (p.Met411Ile)
c.339G>A (p.Met113Ile)
2g.39023025A>CCA346366250SOS1n.1283T>G
c.170T>G (p.Met57Arg)
n.1624T>G
n.1410T>G
c.1292T>G (p.Met431Arg)
c.1403T>G (p.Met468Arg)
n.247T>G
c.1496T>G (p.Met499Arg)
c.1382T>G (p.Met461Arg)
c.1379T>G (p.Met460Arg)
c.1232T>G (p.Met411Arg)
c.338T>G (p.Met113Arg)
2g.39023025A>GCA346366251SOS1n.1283T>C
c.170T>C (p.Met57Thr)
n.1624T>C
n.1410T>C
c.1292T>C (p.Met431Thr)
c.1403T>C (p.Met468Thr)
n.247T>C
c.1496T>C (p.Met499Thr)
c.1382T>C (p.Met461Thr)
c.1379T>C (p.Met460Thr)
c.1232T>C (p.Met411Thr)
c.338T>C (p.Met113Thr)
 ClinVar gnomAD v4
2g.39023025A>TCA346366252SOS1n.1283T>A
c.170T>A (p.Met57Lys)
n.1624T>A
n.1410T>A
c.1292T>A (p.Met431Lys)
c.1403T>A (p.Met468Lys)
n.247T>A
c.1496T>A (p.Met499Lys)
c.1382T>A (p.Met461Lys)
c.1379T>A (p.Met460Lys)
c.1232T>A (p.Met411Lys)
c.338T>A (p.Met113Lys)
2g.39023026T>ACA346366253SOS1n.1282A>T
c.169A>T (p.Met57Leu)
n.1623A>T
n.1409A>T
c.1291A>T (p.Met431Leu)
c.1402A>T (p.Met468Leu)
n.246A>T
c.1495A>T (p.Met499Leu)
c.1381A>T (p.Met461Leu)
c.1378A>T (p.Met460Leu)
c.1231A>T (p.Met411Leu)
c.337A>T (p.Met113Leu)
2g.39023026T>CCA346366254SOS1n.1282A>G
c.169A>G (p.Met57Val)
n.1623A>G
n.1409A>G
c.1291A>G (p.Met431Val)
c.1402A>G (p.Met468Val)
n.246A>G
c.1495A>G (p.Met499Val)
c.1381A>G (p.Met461Val)
c.1378A>G (p.Met460Val)
c.1231A>G (p.Met411Val)
c.337A>G (p.Met113Val)
 gnomAD v4
2g.39023026T>GCA346366255SOS1n.1282A>C
c.169A>C (p.Met57Leu)
n.1623A>C
n.1409A>C
c.1291A>C (p.Met431Leu)
c.1402A>C (p.Met468Leu)
n.246A>C
c.1495A>C (p.Met499Leu)
c.1381A>C (p.Met461Leu)
c.1378A>C (p.Met460Leu)
c.1231A>C (p.Met411Leu)
c.337A>C (p.Met113Leu)
2g.39023027T>ACA346366256SOS1n.1281A>T
c.168A>T (p.Leu56Phe)
n.1622A>T
n.1408A>T
c.1290A>T (p.Leu430Phe)
c.1401A>T (p.Leu467Phe)
n.245A>T
c.1494A>T (p.Leu498Phe)
c.1380A>T (p.Leu460Phe)
c.1377A>T (p.Leu459Phe)
c.1230A>T (p.Leu410Phe)
c.336A>T (p.Leu112Phe)
2g.39023027T>CCA425866819SOS1n.1281A>G
c.168A>G (p.Leu56=)
n.1622A>G
n.1408A>G
c.1290A>G (p.Leu430=)
c.1401A>G (p.Leu467=)
n.245A>G
c.1494A>G (p.Leu498=)
c.1380A>G (p.Leu460=)
c.1377A>G (p.Leu459=)
c.1230A>G (p.Leu410=)
c.336A>G (p.Leu112=)
2g.39023027T>GCA346366257SOS1n.1281A>C
c.168A>C (p.Leu56Phe)
n.1622A>C
n.1408A>C
c.1290A>C (p.Leu430Phe)
c.1401A>C (p.Leu467Phe)
n.245A>C
c.1494A>C (p.Leu498Phe)
c.1380A>C (p.Leu460Phe)
c.1377A>C (p.Leu459Phe)
c.1230A>C (p.Leu410Phe)
c.336A>C (p.Leu112Phe)
2g.39023028A>CCA346366258SOS1n.1280T>G
c.167T>G (p.Leu56Ter)
n.1621T>G
n.1407T>G
c.1289T>G (p.Leu430Ter)
c.1400T>G (p.Leu467Ter)
n.244T>G
c.1493T>G (p.Leu498Ter)
c.1379T>G (p.Leu460Ter)
c.1376T>G (p.Leu459Ter)
c.1229T>G (p.Leu410Ter)
c.335T>G (p.Leu112Ter)
2g.39023028A>GCA346366259SOS1n.1280T>C
c.167T>C (p.Leu56Ser)
n.1621T>C
n.1407T>C
c.1289T>C (p.Leu430Ser)
c.1400T>C (p.Leu467Ser)
n.244T>C
c.1493T>C (p.Leu498Ser)
c.1379T>C (p.Leu460Ser)
c.1376T>C (p.Leu459Ser)
c.1229T>C (p.Leu410Ser)
c.335T>C (p.Leu112Ser)
2g.39023028A>TCA346366260SOS1n.1280T>A
c.167T>A (p.Leu56Ter)
n.1621T>A
n.1407T>A
c.1289T>A (p.Leu430Ter)
c.1400T>A (p.Leu467Ter)
n.244T>A
c.1493T>A (p.Leu498Ter)
c.1379T>A (p.Leu460Ter)
c.1376T>A (p.Leu459Ter)
c.1229T>A (p.Leu410Ter)
c.335T>A (p.Leu112Ter)
2g.39023029A>CCA346366261SOS1n.1279T>G
c.166T>G (p.Leu56Val)
n.1620T>G
n.1406T>G
c.1288T>G (p.Leu430Val)
c.1399T>G (p.Leu467Val)
n.243T>G
c.1492T>G (p.Leu498Val)
c.1378T>G (p.Leu460Val)
c.1375T>G (p.Leu459Val)
c.1228T>G (p.Leu410Val)
c.334T>G (p.Leu112Val)
 COSMIC
2g.39023029A>GCA425866820SOS1n.1279T>C
c.166T>C (p.Leu56=)
n.1620T>C
n.1406T>C
c.1288T>C (p.Leu430=)
c.1399T>C (p.Leu467=)
n.243T>C
c.1492T>C (p.Leu498=)
c.1378T>C (p.Leu460=)
c.1375T>C (p.Leu459=)
c.1228T>C (p.Leu410=)
c.334T>C (p.Leu112=)
2g.39023029A>TCA346366262SOS1n.1279T>A
c.166T>A (p.Leu56Ile)
n.1620T>A
n.1406T>A
c.1288T>A (p.Leu430Ile)
c.1399T>A (p.Leu467Ile)
n.243T>A
c.1492T>A (p.Leu498Ile)
c.1378T>A (p.Leu460Ile)
c.1375T>A (p.Leu459Ile)
c.1228T>A (p.Leu410Ile)
c.334T>A (p.Leu112Ile)
2g.39023030G>ACA425866821SOS1n.1278C>T
c.165C>T (p.Gly55=)
n.1619C>T
n.1405C>T
c.1287C>T (p.Gly429=)
c.1398C>T (p.Gly466=)
n.242C>T
c.1491C>T (p.Gly497=)
c.1377C>T (p.Gly459=)
c.1374C>T (p.Gly458=)
c.1227C>T (p.Gly409=)
c.333C>T (p.Gly111=)
2g.39023030G>CCA425866822SOS1n.1278C>G
c.165C>G (p.Gly55=)
n.1619C>G
n.1405C>G
c.1287C>G (p.Gly429=)
c.1398C>G (p.Gly466=)
n.242C>G
c.1491C>G (p.Gly497=)
c.1377C>G (p.Gly459=)
c.1374C>G (p.Gly458=)
c.1227C>G (p.Gly409=)
c.333C>G (p.Gly111=)
2g.39023030G>TCA425866823SOS1n.1278C>A
c.165C>A (p.Gly55=)
n.1619C>A
n.1405C>A
c.1287C>A (p.Gly429=)
c.1398C>A (p.Gly466=)
n.242C>A
c.1491C>A (p.Gly497=)
c.1377C>A (p.Gly459=)
c.1374C>A (p.Gly458=)
c.1227C>A (p.Gly409=)
c.333C>A (p.Gly111=)
2g.39023031C>ACA346366263SOS1n.1277G>T
c.164G>T (p.Gly55Val)
n.1618G>T
n.1404G>T
c.1286G>T (p.Gly429Val)
c.1397G>T (p.Gly466Val)
n.241G>T
c.1490G>T (p.Gly497Val)
c.1376G>T (p.Gly459Val)
c.1373G>T (p.Gly458Val)
c.1226G>T (p.Gly409Val)
c.332G>T (p.Gly111Val)
2g.39023031C>GCA346366264SOS1n.1277G>C
c.164G>C (p.Gly55Ala)
n.1618G>C
n.1404G>C
c.1286G>C (p.Gly429Ala)
c.1397G>C (p.Gly466Ala)
n.241G>C
c.1490G>C (p.Gly497Ala)
c.1376G>C (p.Gly459Ala)
c.1373G>C (p.Gly458Ala)
c.1226G>C (p.Gly409Ala)
c.332G>C (p.Gly111Ala)
2g.39023031C>TCA346366265SOS1n.1277G>A
c.164G>A (p.Gly55Asp)
n.1618G>A
n.1404G>A
c.1286G>A (p.Gly429Asp)
c.1397G>A (p.Gly466Asp)
n.241G>A
c.1490G>A (p.Gly497Asp)
c.1376G>A (p.Gly459Asp)
c.1373G>A (p.Gly458Asp)
c.1226G>A (p.Gly409Asp)
c.332G>A (p.Gly111Asp)
2g.39023032C>ACA346366266SOS1n.1276G>T
c.163G>T (p.Gly55Cys)
n.1617G>T
n.1403G>T
c.1285G>T (p.Gly429Cys)
c.1396G>T (p.Gly466Cys)
n.240G>T
c.1489G>T (p.Gly497Cys)
c.1375G>T (p.Gly459Cys)
c.1372G>T (p.Gly458Cys)
c.1225G>T (p.Gly409Cys)
c.331G>T (p.Gly111Cys)
2g.39023032C>GCA346366267SOS1n.1276G>C
c.163G>C (p.Gly55Arg)
n.1617G>C
n.1403G>C
c.1285G>C (p.Gly429Arg)
c.1396G>C (p.Gly466Arg)
n.240G>C
c.1489G>C (p.Gly497Arg)
c.1375G>C (p.Gly459Arg)
c.1372G>C (p.Gly458Arg)
c.1225G>C (p.Gly409Arg)
c.331G>C (p.Gly111Arg)
2g.39023032C>TCA346366268SOS1n.1276G>A
c.163G>A (p.Gly55Ser)
n.1617G>A
n.1403G>A
c.1285G>A (p.Gly429Ser)
c.1396G>A (p.Gly466Ser)
n.240G>A
c.1489G>A (p.Gly497Ser)
c.1375G>A (p.Gly459Ser)
c.1372G>A (p.Gly458Ser)
c.1225G>A (p.Gly409Ser)
c.331G>A (p.Gly111Ser)
 gnomAD v4
2g.39023033A>CCA346366269SOS1n.1275T>G
c.162T>G (p.Asp54Glu)
n.1616T>G
n.1402T>G
c.1284T>G (p.Asp428Glu)
c.1395T>G (p.Asp465Glu)
n.239T>G
c.1488T>G (p.Asp496Glu)
c.1374T>G (p.Asp458Glu)
c.1371T>G (p.Asp457Glu)
c.1224T>G (p.Asp408Glu)
c.330T>G (p.Asp110Glu)
2g.39023033A>GCA425866824SOS1n.1275T>C
c.162T>C (p.Asp54=)
n.1616T>C
n.1402T>C
c.1284T>C (p.Asp428=)
c.1395T>C (p.Asp465=)
n.239T>C
c.1488T>C (p.Asp496=)
c.1374T>C (p.Asp458=)
c.1371T>C (p.Asp457=)
c.1224T>C (p.Asp408=)
c.330T>C (p.Asp110=)
2g.39023033A>TCA346366270SOS1n.1275T>A
c.162T>A (p.Asp54Glu)
n.1616T>A
n.1402T>A
c.1284T>A (p.Asp428Glu)
c.1395T>A (p.Asp465Glu)
n.239T>A
c.1488T>A (p.Asp496Glu)
c.1374T>A (p.Asp458Glu)
c.1371T>A (p.Asp457Glu)
c.1224T>A (p.Asp408Glu)
c.330T>A (p.Asp110Glu)
2g.39023034delCA2573050881SOS1n.1274del
c.161del (p.Asp54ValfsTer3)
n.1615del
n.1401del
c.1283del (p.Asp428ValfsTer3)
c.1394del (p.Asp465ValfsTer3)
n.238del
c.1487del (p.Asp496ValfsTer3)
c.1373del (p.Asp458ValfsTer3)
c.1370del (p.Asp457ValfsTer3)
c.1223del (p.Asp408ValfsTer3)
c.329del (p.Asp110ValfsTer3)
2g.39023034T>ACA346366271SOS1n.1274A>T
c.161A>T (p.Asp54Val)
n.1615A>T
n.1401A>T
c.1283A>T (p.Asp428Val)
c.1394A>T (p.Asp465Val)
n.238A>T
c.1487A>T (p.Asp496Val)
c.1373A>T (p.Asp458Val)
c.1370A>T (p.Asp457Val)
c.1223A>T (p.Asp408Val)
c.329A>T (p.Asp110Val)
2g.39023034T>CCA346366272SOS1n.1274A>G
c.161A>G (p.Asp54Gly)
n.1615A>G
n.1401A>G
c.1283A>G (p.Asp428Gly)
c.1394A>G (p.Asp465Gly)
n.238A>G
c.1487A>G (p.Asp496Gly)
c.1373A>G (p.Asp458Gly)
c.1370A>G (p.Asp457Gly)
c.1223A>G (p.Asp408Gly)
c.329A>G (p.Asp110Gly)
 ClinVar gnomAD v4
2g.39023034T>GCA346366273SOS1n.1274A>C
c.161A>C (p.Asp54Ala)
n.1615A>C
n.1401A>C
c.1283A>C (p.Asp428Ala)
c.1394A>C (p.Asp465Ala)
n.238A>C
c.1487A>C (p.Asp496Ala)
c.1373A>C (p.Asp458Ala)
c.1370A>C (p.Asp457Ala)
c.1223A>C (p.Asp408Ala)
c.329A>C (p.Asp110Ala)
2g.39023034_39023035delinsAACA1139532821SOS1n.1273_1274delinsTT
c.160_161delinsTT (p.Asp54Phe)
n.1614_1615delinsTT
n.1400_1401delinsTT
c.1282_1283delinsTT (p.Asp428Phe)
c.1393_1394delinsTT (p.Asp465Phe)
n.237_238delinsTT
c.1486_1487delinsTT (p.Asp496Phe)
c.1372_1373delinsTT (p.Asp458Phe)
c.1369_1370delinsTT (p.Asp457Phe)
c.1222_1223delinsTT (p.Asp408Phe)
c.328_329delinsTT (p.Asp110Phe)
 ClinVar
2g.39023035delCA2573050875SOS1n.1273del
c.160del (p.Asp54MetfsTer3)
n.1614del
n.1400del
c.1282del (p.Asp428MetfsTer3)
c.1393del (p.Asp465MetfsTer3)
n.237del
c.1486del (p.Asp496MetfsTer3)
c.1372del (p.Asp458MetfsTer3)
c.1369del (p.Asp457MetfsTer3)
c.1222del (p.Asp408MetfsTer3)
c.328del (p.Asp110MetfsTer3)
2g.39023035C>ACA346366274SOS1n.1273G>T
c.160G>T (p.Asp54Tyr)
n.1614G>T
n.1400G>T
c.1282G>T (p.Asp428Tyr)
c.1393G>T (p.Asp465Tyr)
n.237G>T
c.1486G>T (p.Asp496Tyr)
c.1372G>T (p.Asp458Tyr)
c.1369G>T (p.Asp457Tyr)
c.1222G>T (p.Asp408Tyr)
c.328G>T (p.Asp110Tyr)
2g.39023035C>GCA346366275SOS1n.1273G>C
c.160G>C (p.Asp54His)
n.1614G>C
n.1400G>C
c.1282G>C (p.Asp428His)
c.1393G>C (p.Asp465His)
n.237G>C
c.1486G>C (p.Asp496His)
c.1372G>C (p.Asp458His)
c.1369G>C (p.Asp457His)
c.1222G>C (p.Asp408His)
c.328G>C (p.Asp110His)
2g.39023035C>TCA346366276SOS1n.1273G>A
c.160G>A (p.Asp54Asn)
n.1614G>A
n.1400G>A
c.1282G>A (p.Asp428Asn)
c.1393G>A (p.Asp465Asn)
n.237G>A
c.1486G>A (p.Asp496Asn)
c.1372G>A (p.Asp458Asn)
c.1369G>A (p.Asp457Asn)
c.1222G>A (p.Asp408Asn)
c.328G>A (p.Asp110Asn)
2g.39023036A>CCA346366277SOS1n.1272T>G
c.159T>G (p.Phe53Leu)
n.1613T>G
n.1399T>G
c.1281T>G (p.Phe427Leu)
c.1392T>G (p.Phe464Leu)
n.236T>G
c.1485T>G (p.Phe495Leu)
c.1371T>G (p.Phe457Leu)
c.1368T>G (p.Phe456Leu)
c.1221T>G (p.Phe407Leu)
c.327T>G (p.Phe109Leu)
2g.39023036A>GCA425866825SOS1n.1272T>C
c.159T>C (p.Phe53=)
n.1613T>C
n.1399T>C
c.1281T>C (p.Phe427=)
c.1392T>C (p.Phe464=)
n.236T>C
c.1485T>C (p.Phe495=)
c.1371T>C (p.Phe457=)
c.1368T>C (p.Phe456=)
c.1221T>C (p.Phe407=)
c.327T>C (p.Phe109=)
 gnomAD v4 COSMIC
2g.39023036A>TCA346366278SOS1n.1272T>A
c.159T>A (p.Phe53Leu)
n.1613T>A
n.1399T>A
c.1281T>A (p.Phe427Leu)
c.1392T>A (p.Phe464Leu)
n.236T>A
c.1485T>A (p.Phe495Leu)
c.1371T>A (p.Phe457Leu)
c.1368T>A (p.Phe456Leu)
c.1221T>A (p.Phe407Leu)
c.327T>A (p.Phe109Leu)
2g.39023037A>CCA346366279SOS1n.1271T>G
c.158T>G (p.Phe53Cys)
n.1612T>G
n.1398T>G
c.1280T>G (p.Phe427Cys)
c.1391T>G (p.Phe464Cys)
n.235T>G
c.1484T>G (p.Phe495Cys)
c.1370T>G (p.Phe457Cys)
c.1367T>G (p.Phe456Cys)
c.1220T>G (p.Phe407Cys)
c.326T>G (p.Phe109Cys)
2g.39023037A>GCA346366281SOS1n.1271T>C
c.158T>C (p.Phe53Ser)
n.1612T>C
n.1398T>C
c.1280T>C (p.Phe427Ser)
c.1391T>C (p.Phe464Ser)
n.235T>C
c.1484T>C (p.Phe495Ser)
c.1370T>C (p.Phe457Ser)
c.1367T>C (p.Phe456Ser)
c.1220T>C (p.Phe407Ser)
c.326T>C (p.Phe109Ser)
 ClinVar gnomAD v4
2g.39023037A>TCA346366280SOS1n.1271T>A
c.158T>A (p.Phe53Tyr)
n.1612T>A
n.1398T>A
c.1280T>A (p.Phe427Tyr)
c.1391T>A (p.Phe464Tyr)
n.235T>A
c.1484T>A (p.Phe495Tyr)
c.1370T>A (p.Phe457Tyr)
c.1367T>A (p.Phe456Tyr)
c.1220T>A (p.Phe407Tyr)
c.326T>A (p.Phe109Tyr)
2g.39023038A>CCA346366282SOS1n.1270T>G
c.157T>G (p.Phe53Val)
n.1611T>G
n.1397T>G
c.1279T>G (p.Phe427Val)
c.1390T>G (p.Phe464Val)
n.234T>G
c.1483T>G (p.Phe495Val)
c.1369T>G (p.Phe457Val)
c.1366T>G (p.Phe456Val)
c.1219T>G (p.Phe407Val)
c.325T>G (p.Phe109Val)
2g.39023038A>GCA346366284SOS1n.1270T>C
c.157T>C (p.Phe53Leu)
n.1611T>C
n.1397T>C
c.1279T>C (p.Phe427Leu)
c.1390T>C (p.Phe464Leu)
n.234T>C
c.1483T>C (p.Phe495Leu)
c.1369T>C (p.Phe457Leu)
c.1366T>C (p.Phe456Leu)
c.1219T>C (p.Phe407Leu)
c.325T>C (p.Phe109Leu)
2g.39023038A>TCA346366283SOS1n.1270T>A
c.157T>A (p.Phe53Ile)
n.1611T>A
n.1397T>A
c.1279T>A (p.Phe427Ile)
c.1390T>A (p.Phe464Ile)
n.234T>A
c.1483T>A (p.Phe495Ile)
c.1369T>A (p.Phe457Ile)
c.1366T>A (p.Phe456Ile)
c.1219T>A (p.Phe407Ile)
c.325T>A (p.Phe109Ile)
2g.39023039G>ACA425866826SOS1n.1269C>T
c.156C>T (p.Leu52=)
n.1610C>T
n.1396C>T
c.1278C>T (p.Leu426=)
c.1389C>T (p.Leu463=)
n.233C>T
c.1482C>T (p.Leu494=)
c.1368C>T (p.Leu456=)
c.1365C>T (p.Leu455=)
c.1218C>T (p.Leu406=)
c.324C>T (p.Leu108=)
2g.39023039G>CCA425866827SOS1n.1269C>G
c.156C>G (p.Leu52=)
n.1610C>G
n.1396C>G
c.1278C>G (p.Leu426=)
c.1389C>G (p.Leu463=)
n.233C>G
c.1482C>G (p.Leu494=)
c.1368C>G (p.Leu456=)
c.1365C>G (p.Leu455=)
c.1218C>G (p.Leu406=)
c.324C>G (p.Leu108=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.39023039G=CA1246139962SOS1n.1269C=
c.156C= (p.Leu52=)
n.1610C=
n.1396C=
c.1278C= (p.Leu426=)
c.1389C= (p.Leu463=)
n.233C=
c.1482C= (p.Leu494=)
c.1368C= (p.Leu456=)
c.1365C= (p.Leu455=)
c.1218C= (p.Leu406=)
c.324C= (p.Leu108=)
2g.39023039G>TCA425866828SOS1n.1269C>A
c.156C>A (p.Leu52=)
n.1610C>A
n.1396C>A
c.1278C>A (p.Leu426=)
c.1389C>A (p.Leu463=)
n.233C>A
c.1482C>A (p.Leu494=)
c.1368C>A (p.Leu456=)
c.1365C>A (p.Leu455=)
c.1218C>A (p.Leu406=)
c.324C>A (p.Leu108=)
2g.39023040A>CCA346366285SOS1n.1268T>G
c.155T>G (p.Leu52Arg)
n.1609T>G
n.1395T>G
c.1277T>G (p.Leu426Arg)
c.1388T>G (p.Leu463Arg)
n.232T>G
c.1481T>G (p.Leu494Arg)
c.1367T>G (p.Leu456Arg)
c.1364T>G (p.Leu455Arg)
c.1217T>G (p.Leu406Arg)
c.323T>G (p.Leu108Arg)
2g.39023040A>GCA346366286SOS1n.1268T>C
c.155T>C (p.Leu52Pro)
n.1609T>C
n.1395T>C
c.1277T>C (p.Leu426Pro)
c.1388T>C (p.Leu463Pro)
n.232T>C
c.1481T>C (p.Leu494Pro)
c.1367T>C (p.Leu456Pro)
c.1364T>C (p.Leu455Pro)
c.1217T>C (p.Leu406Pro)
c.323T>C (p.Leu108Pro)
2g.39023040A>TCA346366287SOS1n.1268T>A
c.155T>A (p.Leu52His)
n.1609T>A
n.1395T>A
c.1277T>A (p.Leu426His)
c.1388T>A (p.Leu463His)
n.232T>A
c.1481T>A (p.Leu494His)
c.1367T>A (p.Leu456His)
c.1364T>A (p.Leu455His)
c.1217T>A (p.Leu406His)
c.323T>A (p.Leu108His)
2g.39023041G>ACA346366288SOS1n.1267C>T
c.154C>T (p.Leu52Phe)
n.1608C>T
n.1394C>T
c.1276C>T (p.Leu426Phe)
c.1387C>T (p.Leu463Phe)
n.231C>T
c.1480C>T (p.Leu494Phe)
c.1366C>T (p.Leu456Phe)
c.1363C>T (p.Leu455Phe)
c.1216C>T (p.Leu406Phe)
c.322C>T (p.Leu108Phe)
2g.39023041G>CCA1624601SOS1n.1267C>G
c.154C>G (p.Leu52Val)
n.1608C>G
n.1394C>G
c.1276C>G (p.Leu426Val)
c.1387C>G (p.Leu463Val)
n.231C>G
c.1480C>G (p.Leu494Val)
c.1366C>G (p.Leu456Val)
c.1363C>G (p.Leu455Val)
c.1216C>G (p.Leu406Val)
c.322C>G (p.Leu108Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.39023041G=CA1246139968SOS1n.1267C=
c.154C= (p.Leu52=)
n.1608C=
n.1394C=
c.1276C= (p.Leu426=)
c.1387C= (p.Leu463=)
n.231C=
c.1480C= (p.Leu494=)
c.1366C= (p.Leu456=)
c.1363C= (p.Leu455=)
c.1216C= (p.Leu406=)
c.322C= (p.Leu108=)
2g.39023041G>TCA346366289SOS1n.1267C>A
c.154C>A (p.Leu52Ile)
n.1608C>A
n.1394C>A
c.1276C>A (p.Leu426Ile)
c.1387C>A (p.Leu463Ile)
n.231C>A
c.1480C>A (p.Leu494Ile)
c.1366C>A (p.Leu456Ile)
c.1363C>A (p.Leu455Ile)
c.1216C>A (p.Leu406Ile)
c.322C>A (p.Leu108Ile)
 COSMIC
2g.39023042A>CCA346366290SOS1n.1266T>G
c.153T>G (p.Phe51Leu)
n.1607T>G
n.1393T>G
c.1275T>G (p.Phe425Leu)
c.1386T>G (p.Phe462Leu)
n.230T>G
c.1479T>G (p.Phe493Leu)
c.1365T>G (p.Phe455Leu)
c.1362T>G (p.Phe454Leu)
c.1215T>G (p.Phe405Leu)
c.321T>G (p.Phe107Leu)
2g.39023042A>GCA425866829SOS1n.1266T>C
c.153T>C (p.Phe51=)
n.1607T>C
n.1393T>C
c.1275T>C (p.Phe425=)
c.1386T>C (p.Phe462=)
n.230T>C
c.1479T>C (p.Phe493=)
c.1365T>C (p.Phe455=)
c.1362T>C (p.Phe454=)
c.1215T>C (p.Phe405=)
c.321T>C (p.Phe107=)
2g.39023042A>TCA346366291SOS1n.1266T>A
c.153T>A (p.Phe51Leu)
n.1607T>A
n.1393T>A
c.1275T>A (p.Phe425Leu)
c.1386T>A (p.Phe462Leu)
n.230T>A
c.1479T>A (p.Phe493Leu)
c.1365T>A (p.Phe455Leu)
c.1362T>A (p.Phe454Leu)
c.1215T>A (p.Phe405Leu)
c.321T>A (p.Phe107Leu)
2g.39023043A=CA1246139974SOS1n.1265T=
c.152T= (p.Phe51=)
n.1606T=
n.1392T=
c.1274T= (p.Phe425=)
c.1385T= (p.Phe462=)
n.229T=
c.1478T= (p.Phe493=)
c.1364T= (p.Phe455=)
c.1361T= (p.Phe454=)
c.1214T= (p.Phe405=)
c.320T= (p.Phe107=)
2g.39023043A>CCA346366292SOS1n.1265T>G
c.152T>G (p.Phe51Cys)
n.1606T>G
n.1392T>G
c.1274T>G (p.Phe425Cys)
c.1385T>G (p.Phe462Cys)
n.229T>G
c.1478T>G (p.Phe493Cys)
c.1364T>G (p.Phe455Cys)
c.1361T>G (p.Phe454Cys)
c.1214T>G (p.Phe405Cys)
c.320T>G (p.Phe107Cys)
2g.39023043A>GCA346366293SOS1n.1265T>C
c.152T>C (p.Phe51Ser)
n.1606T>C
n.1392T>C
c.1274T>C (p.Phe425Ser)
c.1385T>C (p.Phe462Ser)
n.229T>C
c.1478T>C (p.Phe493Ser)
c.1364T>C (p.Phe455Ser)
c.1361T>C (p.Phe454Ser)
c.1214T>C (p.Phe405Ser)
c.320T>C (p.Phe107Ser)
2g.39023043A>TCA297267SOS1n.1265T>A
c.152T>A (p.Phe51Tyr)
n.1606T>A
n.1392T>A
c.1274T>A (p.Phe425Tyr)
c.1385T>A (p.Phe462Tyr)
n.229T>A
c.1478T>A (p.Phe493Tyr)
c.1364T>A (p.Phe455Tyr)
c.1361T>A (p.Phe454Tyr)
c.1214T>A (p.Phe405Tyr)
c.320T>A (p.Phe107Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.39023044A>CCA346366294SOS1n.1264T>G
c.151T>G (p.Phe51Val)
n.1605T>G
n.1391T>G
c.1273T>G (p.Phe425Val)
c.1384T>G (p.Phe462Val)
n.228T>G
c.1477T>G (p.Phe493Val)
c.1363T>G (p.Phe455Val)
c.1360T>G (p.Phe454Val)
c.1213T>G (p.Phe405Val)
c.319T>G (p.Phe107Val)
2g.39023044A>GCA346366296SOS1n.1264T>C
c.151T>C (p.Phe51Leu)
n.1605T>C
n.1391T>C
c.1273T>C (p.Phe425Leu)
c.1384T>C (p.Phe462Leu)
n.228T>C
c.1477T>C (p.Phe493Leu)
c.1363T>C (p.Phe455Leu)
c.1360T>C (p.Phe454Leu)
c.1213T>C (p.Phe405Leu)
c.319T>C (p.Phe107Leu)
2g.39023044A>TCA346366295SOS1n.1264T>A
c.151T>A (p.Phe51Ile)
n.1605T>A
n.1391T>A
c.1273T>A (p.Phe425Ile)
c.1384T>A (p.Phe462Ile)
n.228T>A
c.1477T>A (p.Phe493Ile)
c.1363T>A (p.Phe455Ile)
c.1360T>A (p.Phe454Ile)
c.1213T>A (p.Phe405Ile)
c.319T>A (p.Phe107Ile)
2g.39023045T>ACA425866830SOS1n.1263A>T
c.150A>T (p.Ile50=)
n.1604A>T
n.1390A>T
c.1272A>T (p.Ile424=)
c.1383A>T (p.Ile461=)
n.227A>T
c.1476A>T (p.Ile492=)
c.1362A>T (p.Ile454=)
c.1359A>T (p.Ile453=)
c.1212A>T (p.Ile404=)
c.318A>T (p.Ile106=)
2g.39023045T>CCA346366297SOS1n.1263A>G
c.150A>G (p.Ile50Met)
n.1604A>G
n.1390A>G
c.1272A>G (p.Ile424Met)
c.1383A>G (p.Ile461Met)
n.227A>G
c.1476A>G (p.Ile492Met)
c.1362A>G (p.Ile454Met)
c.1359A>G (p.Ile453Met)
c.1212A>G (p.Ile404Met)
c.318A>G (p.Ile106Met)
2g.39023045T>GCA425866831SOS1n.1263A>C
c.150A>C (p.Ile50=)
n.1604A>C
n.1390A>C
c.1272A>C (p.Ile424=)
c.1383A>C (p.Ile461=)
n.227A>C
c.1476A>C (p.Ile492=)
c.1362A>C (p.Ile454=)
c.1359A>C (p.Ile453=)
c.1212A>C (p.Ile404=)
c.318A>C (p.Ile106=)
2g.39023046A>CCA346366298SOS1n.1262T>G
c.149T>G (p.Ile50Arg)
n.1603T>G
n.1389T>G
c.1271T>G (p.Ile424Arg)
c.1382T>G (p.Ile461Arg)
n.226T>G
c.1475T>G (p.Ile492Arg)
c.1361T>G (p.Ile454Arg)
c.1358T>G (p.Ile453Arg)
c.1211T>G (p.Ile404Arg)
c.317T>G (p.Ile106Arg)
2g.39023046A>GCA346366299SOS1n.1262T>C
c.149T>C (p.Ile50Thr)
n.1603T>C
n.1389T>C
c.1271T>C (p.Ile424Thr)
c.1382T>C (p.Ile461Thr)
n.226T>C
c.1475T>C (p.Ile492Thr)
c.1361T>C (p.Ile454Thr)
c.1358T>C (p.Ile453Thr)
c.1211T>C (p.Ile404Thr)
c.317T>C (p.Ile106Thr)
2g.39023046A>TCA346366300SOS1n.1262T>A
c.149T>A (p.Ile50Lys)
n.1603T>A
n.1389T>A
c.1271T>A (p.Ile424Lys)
c.1382T>A (p.Ile461Lys)
n.226T>A
c.1475T>A (p.Ile492Lys)
c.1361T>A (p.Ile454Lys)
c.1358T>A (p.Ile453Lys)
c.1211T>A (p.Ile404Lys)
c.317T>A (p.Ile106Lys)
2g.39023046_39023047insCGGCGATGACCGCATGGCGCAGCAACAAGCCATGATGCAGCTTTACAAAGACGAGAAAATCAATCCGCTGGGCGGCTGTCTGCCTATGCTGTTGCAAATCCCCGTCTTCATCGGTCTGTACTGGGCATCA2546722167SOS1n.1261_1262insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGCTGCGCCATGCGGTCATCGCCG
c.148_149insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGCTGCGCCATGCGGTCATCGCCG (p.Ile50AsnfsTer29)
n.1602_1603insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGCTGCGCCATGCGGTCATCGCCG
n.1388_1389insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGCTGCGCCATGCGGTCATCGCCG
c.1270_1271insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGCTGCGCCATGCGGTCATCGCCG (p.Ile424AsnfsTer29)
c.1381_1382insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGCTGCGCCATGCGGTCATCGCCG (p.Ile461AsnfsTer29)
n.225_226insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGCTGCGCCATGCGGTCATCGCCG
c.1474_1475insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGCTGCGCCATGCGGTCATCGCCG (p.Ile492AsnfsTer29)
c.1360_1361insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGCTGCGCCATGCGGTCATCGCCG (p.Ile454AsnfsTer29)
c.1357_1358insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGCTGCGCCATGCGGTCATCGCCG (p.Ile453AsnfsTer29)
c.1210_1211insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGCTGCGCCATGCGGTCATCGCCG (p.Ile404AsnfsTer29)
c.316_317insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGCTGCGCCATGCGGTCATCGCCG (p.Ile106AsnfsTer29)
2g.39023046_39023047insCGGCGATGACCGCATGGCGCAACAACAAGCCATGATGCAGCTTTACAAAGACGAGAAAATCAACCCGCTGGGCGGCTGTCTGCCTATGCTGTTGCAAATCCCCGTCTTCATCGGTCTGTACTGGGCATCA2523871053SOS1n.1261_1262insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGGTTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG
c.148_149insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGGTTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG (p.Ile50AsnfsTer29)
n.1602_1603insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGGTTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG
n.1388_1389insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGGTTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG
c.1270_1271insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGGTTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG (p.Ile424AsnfsTer29)
c.1381_1382insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGGTTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG (p.Ile461AsnfsTer29)
n.225_226insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGGTTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG
c.1474_1475insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGGTTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG (p.Ile492AsnfsTer29)
c.1360_1361insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGGTTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG (p.Ile454AsnfsTer29)
c.1357_1358insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGGTTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG (p.Ile453AsnfsTer29)
c.1210_1211insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGGTTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG (p.Ile404AsnfsTer29)
c.316_317insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGGTTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG (p.Ile106AsnfsTer29)
2g.39023046_39023047insCGGCGATGACCGCATGGCGCAACAACAAGCCATGATGCAGCTTTACAAAGACGAGAAAATCAATCCGCTGGGCGGCTGTCTGCCTATGCTGTTGCAAATCCCCGTCTTCATCGGTCTGTACTGGGCATCA2511719354SOS1n.1261_1262insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG
c.148_149insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG (p.Ile50AsnfsTer29)
n.1602_1603insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG
n.1388_1389insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG
c.1270_1271insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG (p.Ile424AsnfsTer29)
c.1381_1382insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG (p.Ile461AsnfsTer29)
n.225_226insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG
c.1474_1475insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG (p.Ile492AsnfsTer29)
c.1360_1361insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG (p.Ile454AsnfsTer29)
c.1357_1358insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG (p.Ile453AsnfsTer29)
c.1210_1211insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG (p.Ile404AsnfsTer29)
c.316_317insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG (p.Ile106AsnfsTer29)
2g.39023046_39023047insCGGCGATGACCGCATGGCGCAACAACAAGCCATGATGCAGCTTTACAAAGACGAGAAAATCAATCCACTGGGCGGCTGTCTGCCTATGCTGTTGCAAATCCCCGTCTTCATCGGTCTGTACTGGGCATCA2549556172SOS1n.1261_1262insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGTGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG
c.148_149insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGTGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG (p.Ile50AsnfsTer29)
n.1602_1603insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGTGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG
n.1388_1389insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGTGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG
c.1270_1271insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGTGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG (p.Ile424AsnfsTer29)
c.1381_1382insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGTGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG (p.Ile461AsnfsTer29)
n.225_226insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGTGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG
c.1474_1475insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGTGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG (p.Ile492AsnfsTer29)
c.1360_1361insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGTGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG (p.Ile454AsnfsTer29)
c.1357_1358insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGTGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG (p.Ile453AsnfsTer29)
c.1210_1211insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGTGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG (p.Ile404AsnfsTer29)
c.316_317insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGTGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG (p.Ile106AsnfsTer29)
2g.39023046_39023047insCGGTGATGACCGCATGGCGCAACAACAAGCCATGATGCAGCTTTATAAAGACGAGAAAATCAATCCGCTGGGCGGCTGTCTGCCTATGCTGTTGCAAATCCCCGTCTTCATCGGCCTGTACTGGGCATCA2550838409SOS1n.1261_1262insATGCCCAGTACAGGCCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTATAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCACCG
c.148_149insATGCCCAGTACAGGCCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTATAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCACCG (p.Ile50AsnfsTer29)
n.1602_1603insATGCCCAGTACAGGCCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTATAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCACCG
n.1388_1389insATGCCCAGTACAGGCCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTATAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCACCG
c.1270_1271insATGCCCAGTACAGGCCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTATAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCACCG (p.Ile424AsnfsTer29)
c.1381_1382insATGCCCAGTACAGGCCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTATAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCACCG (p.Ile461AsnfsTer29)
n.225_226insATGCCCAGTACAGGCCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTATAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCACCG
c.1474_1475insATGCCCAGTACAGGCCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTATAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCACCG (p.Ile492AsnfsTer29)
c.1360_1361insATGCCCAGTACAGGCCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTATAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCACCG (p.Ile454AsnfsTer29)
c.1357_1358insATGCCCAGTACAGGCCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTATAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCACCG (p.Ile453AsnfsTer29)
c.1210_1211insATGCCCAGTACAGGCCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTATAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCACCG (p.Ile404AsnfsTer29)
c.316_317insATGCCCAGTACAGGCCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTATAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCACCG (p.Ile106AsnfsTer29)
2g.39023046_39023047insCGGCGATGACCGCATGGCACAACAACAAGCCATGATGCAGCTTTACAAAGACGAGAAAATCAATCCGCTGGGCGGCTGTCTACCTATGCTGTTGCAAATCCCCGTCTTCATCGGTCTGTACTGGGCATCA2550841051SOS1n.1261_1262insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGTAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGTGCCATGCGGTCATCGCCG
c.148_149insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGTAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGTGCCATGCGGTCATCGCCG (p.Ile50AsnfsTer29)
n.1602_1603insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGTAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGTGCCATGCGGTCATCGCCG
n.1388_1389insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGTAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGTGCCATGCGGTCATCGCCG
c.1270_1271insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGTAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGTGCCATGCGGTCATCGCCG (p.Ile424AsnfsTer29)
c.1381_1382insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGTAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGTGCCATGCGGTCATCGCCG (p.Ile461AsnfsTer29)
n.225_226insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGTAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGTGCCATGCGGTCATCGCCG
c.1474_1475insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGTAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGTGCCATGCGGTCATCGCCG (p.Ile492AsnfsTer29)
c.1360_1361insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGTAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGTGCCATGCGGTCATCGCCG (p.Ile454AsnfsTer29)
c.1357_1358insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGTAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGTGCCATGCGGTCATCGCCG (p.Ile453AsnfsTer29)
c.1210_1211insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGTAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGTGCCATGCGGTCATCGCCG (p.Ile404AsnfsTer29)
c.316_317insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGTAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGTGCCATGCGGTCATCGCCG (p.Ile106AsnfsTer29)
2g.39023047T>ACA346366301SOS1n.1261A>T
c.148A>T (p.Ile50Leu)
n.1602A>T
n.1388A>T
c.1270A>T (p.Ile424Leu)
c.1381A>T (p.Ile461Leu)
n.225A>T
c.1474A>T (p.Ile492Leu)
c.1360A>T (p.Ile454Leu)
c.1357A>T (p.Ile453Leu)
c.1210A>T (p.Ile404Leu)
c.316A>T (p.Ile106Leu)
2g.39023047T>CCA346366302SOS1n.1261A>G
c.148A>G (p.Ile50Val)
n.1602A>G
n.1388A>G
c.1270A>G (p.Ile424Val)
c.1381A>G (p.Ile461Val)
n.225A>G
c.1474A>G (p.Ile492Val)
c.1360A>G (p.Ile454Val)
c.1357A>G (p.Ile453Val)
c.1210A>G (p.Ile404Val)
c.316A>G (p.Ile106Val)
 dbSNP gnomAD v3 gnomAD v4
2g.39023047T>GCA346366303SOS1n.1261A>C
c.148A>C (p.Ile50Leu)
n.1602A>C
n.1388A>C
c.1270A>C (p.Ile424Leu)
c.1381A>C (p.Ile461Leu)
n.225A>C
c.1474A>C (p.Ile492Leu)
c.1360A>C (p.Ile454Leu)
c.1357A>C (p.Ile453Leu)
c.1210A>C (p.Ile404Leu)
c.316A>C (p.Ile106Leu)
2g.39023047T=CA1246139980SOS1n.1261A=
c.148A= (p.Ile50=)
n.1602A=
n.1388A=
c.1270A= (p.Ile424=)
c.1381A= (p.Ile461=)
n.225A=
c.1474A= (p.Ile492=)
c.1360A= (p.Ile454=)
c.1357A= (p.Ile453=)
c.1210A= (p.Ile404=)
c.316A= (p.Ile106=)
2g.39023048G>ACA425866832SOS1n.1260C>T
c.147C>T (p.His49=)
n.1601C>T
n.1387C>T
c.1269C>T (p.His423=)
c.1380C>T (p.His460=)
n.224C>T
c.1473C>T (p.His491=)
c.1359C>T (p.His453=)
c.1356C>T (p.His452=)
c.1209C>T (p.His403=)
c.315C>T (p.His105=)
 ClinVar dbSNP gnomAD v4
2g.39023048G>CCA346366304SOS1n.1260C>G
c.147C>G (p.His49Gln)
n.1601C>G
n.1387C>G
c.1269C>G (p.His423Gln)
c.1380C>G (p.His460Gln)
n.224C>G
c.1473C>G (p.His491Gln)
c.1359C>G (p.His453Gln)
c.1356C>G (p.His452Gln)
c.1209C>G (p.His403Gln)
c.315C>G (p.His105Gln)
2g.39023048G=CA1246139984SOS1n.1260C=
c.147C= (p.His49=)
n.1601C=
n.1387C=
c.1269C= (p.His423=)
c.1380C= (p.His460=)
n.224C=
c.1473C= (p.His491=)
c.1359C= (p.His453=)
c.1356C= (p.His452=)
c.1209C= (p.His403=)
c.315C= (p.His105=)
2g.39023048G>TCA346366305SOS1n.1260C>A
c.147C>A (p.His49Gln)
n.1601C>A
n.1387C>A
c.1269C>A (p.His423Gln)
c.1380C>A (p.His460Gln)
n.224C>A
c.1473C>A (p.His491Gln)
c.1359C>A (p.His453Gln)
c.1356C>A (p.His452Gln)
c.1209C>A (p.His403Gln)
c.315C>A (p.His105Gln)
2g.39023049T>ACA346366307SOS1n.1259A>T
c.146A>T (p.His49Leu)
n.1600A>T
n.1386A>T
c.1268A>T (p.His423Leu)
c.1379A>T (p.His460Leu)
n.223A>T
c.1472A>T (p.His491Leu)
c.1358A>T (p.His453Leu)
c.1355A>T (p.His452Leu)
c.1208A>T (p.His403Leu)
c.314A>T (p.His105Leu)
2g.39023049T>CCA346366308SOS1n.1259A>G
c.146A>G (p.His49Arg)
n.1600A>G
n.1386A>G
c.1268A>G (p.His423Arg)
c.1379A>G (p.His460Arg)
n.223A>G
c.1472A>G (p.His491Arg)
c.1358A>G (p.His453Arg)
c.1355A>G (p.His452Arg)
c.1208A>G (p.His403Arg)
c.314A>G (p.His105Arg)
 ClinVar
2g.39023049T>GCA346366306SOS1n.1259A>C
c.146A>C (p.His49Pro)
n.1600A>C
n.1386A>C
c.1268A>C (p.His423Pro)
c.1379A>C (p.His460Pro)
n.223A>C
c.1472A>C (p.His491Pro)
c.1358A>C (p.His453Pro)
c.1355A>C (p.His452Pro)
c.1208A>C (p.His403Pro)
c.314A>C (p.His105Pro)
2g.39023050G>ACA346366309SOS1n.1258C>T
c.145C>T (p.His49Tyr)
n.1599C>T
n.1385C>T
c.1267C>T (p.His423Tyr)
c.1378C>T (p.His460Tyr)
n.222C>T
c.1471C>T (p.His491Tyr)
c.1357C>T (p.His453Tyr)
c.1354C>T (p.His452Tyr)
c.1207C>T (p.His403Tyr)
c.313C>T (p.His105Tyr)
 gnomAD v4
2g.39023050G>CCA346366310SOS1n.1258C>G
c.145C>G (p.His49Asp)
n.1599C>G
n.1385C>G
c.1267C>G (p.His423Asp)
c.1378C>G (p.His460Asp)
n.222C>G
c.1471C>G (p.His491Asp)
c.1357C>G (p.His453Asp)
c.1354C>G (p.His452Asp)
c.1207C>G (p.His403Asp)
c.313C>G (p.His105Asp)
2g.39023050G>TCA346366311SOS1n.1258C>A
c.145C>A (p.His49Asn)
n.1599C>A
n.1385C>A
c.1267C>A (p.His423Asn)
c.1378C>A (p.His460Asn)
n.222C>A
c.1471C>A (p.His491Asn)
c.1357C>A (p.His453Asn)
c.1354C>A (p.His452Asn)
c.1207C>A (p.His403Asn)
c.313C>A (p.His105Asn)
2g.39023051T>ACA346366312SOS1n.1257A>T
c.144A>T (p.Arg48Ser)
n.1598A>T
n.1384A>T
c.1266A>T (p.Arg422Ser)
c.1377A>T (p.Arg459Ser)
n.221A>T
c.1470A>T (p.Arg490Ser)
c.1356A>T (p.Arg452Ser)
c.1353A>T (p.Arg451Ser)
c.1206A>T (p.Arg402Ser)
c.312A>T (p.Arg104Ser)
2g.39023051T>CCA425866833SOS1n.1257A>G
c.144A>G (p.Arg48=)
n.1598A>G
n.1384A>G
c.1266A>G (p.Arg422=)
c.1377A>G (p.Arg459=)
n.221A>G
c.1470A>G (p.Arg490=)
c.1356A>G (p.Arg452=)
c.1353A>G (p.Arg451=)
c.1206A>G (p.Arg402=)
c.312A>G (p.Arg104=)
2g.39023051T>GCA346366313SOS1n.1257A>C
c.144A>C (p.Arg48Ser)
n.1598A>C
n.1384A>C
c.1266A>C (p.Arg422Ser)
c.1377A>C (p.Arg459Ser)
n.221A>C
c.1470A>C (p.Arg490Ser)
c.1356A>C (p.Arg452Ser)
c.1353A>C (p.Arg451Ser)
c.1206A>C (p.Arg402Ser)
c.312A>C (p.Arg104Ser)
2g.39023052C>ACA346366314SOS1n.1256G>T
c.143G>T (p.Arg48Ile)
n.1597G>T
n.1383G>T
c.1265G>T (p.Arg422Ile)
c.1376G>T (p.Arg459Ile)
n.220G>T
c.1469G>T (p.Arg490Ile)
c.1355G>T (p.Arg452Ile)
c.1352G>T (p.Arg451Ile)
c.1205G>T (p.Arg402Ile)
c.311G>T (p.Arg104Ile)
2g.39023052C>GCA346366315SOS1n.1256G>C
c.143G>C (p.Arg48Thr)
n.1597G>C
n.1383G>C
c.1265G>C (p.Arg422Thr)
c.1376G>C (p.Arg459Thr)
n.220G>C
c.1469G>C (p.Arg490Thr)
c.1355G>C (p.Arg452Thr)
c.1352G>C (p.Arg451Thr)
c.1205G>C (p.Arg402Thr)
c.311G>C (p.Arg104Thr)
 ClinVar
2g.39023052C>TCA346366316SOS1n.1256G>A
c.143G>A (p.Arg48Lys)
n.1597G>A
n.1383G>A
c.1265G>A (p.Arg422Lys)
c.1376G>A (p.Arg459Lys)
n.220G>A
c.1469G>A (p.Arg490Lys)
c.1355G>A (p.Arg452Lys)
c.1352G>A (p.Arg451Lys)
c.1205G>A (p.Arg402Lys)
c.311G>A (p.Arg104Lys)
2g.39023053T>ACA346366317SOS1n.1255A>T
c.142A>T (p.Arg48Ter)
n.1596A>T
n.1382A>T
c.1264A>T (p.Arg422Ter)
c.1375A>T (p.Arg459Ter)
n.219A>T
c.1468A>T (p.Arg490Ter)
c.1354A>T (p.Arg452Ter)
c.1351A>T (p.Arg451Ter)
c.1204A>T (p.Arg402Ter)
c.310A>T (p.Arg104Ter)
2g.39023053T>CCA346366318SOS1n.1255A>G
c.142A>G (p.Arg48Gly)
n.1596A>G
n.1382A>G
c.1264A>G (p.Arg422Gly)
c.1375A>G (p.Arg459Gly)
n.219A>G
c.1468A>G (p.Arg490Gly)
c.1354A>G (p.Arg452Gly)
c.1351A>G (p.Arg451Gly)
c.1204A>G (p.Arg402Gly)
c.310A>G (p.Arg104Gly)
2g.39023053T>GCA425866834SOS1n.1255A>C
c.142A>C (p.Arg48=)
n.1596A>C
n.1382A>C
c.1264A>C (p.Arg422=)
c.1375A>C (p.Arg459=)
n.219A>C
c.1468A>C (p.Arg490=)
c.1354A>C (p.Arg452=)
c.1351A>C (p.Arg451=)
c.1204A>C (p.Arg402=)
c.310A>C (p.Arg104=)
2g.39023054C>ACA346366319SOS1n.1254G>T
c.141G>T (p.Glu47Asp)
n.1595G>T
n.1381G>T
c.1263G>T (p.Glu421Asp)
c.1374G>T (p.Glu458Asp)
n.218G>T
c.1467G>T (p.Glu489Asp)
c.1353G>T (p.Glu451Asp)
c.1350G>T (p.Glu450Asp)
c.1203G>T (p.Glu401Asp)
c.309G>T (p.Glu103Asp)
2g.39023054C=CA1246139990SOS1n.1254G=
c.141G= (p.Glu47=)
n.1595G=
n.1381G=
c.1263G= (p.Glu421=)
c.1374G= (p.Glu458=)
n.218G=
c.1467G= (p.Glu489=)
c.1353G= (p.Glu451=)
c.1350G= (p.Glu450=)
c.1203G= (p.Glu401=)
c.309G= (p.Glu103=)
2g.39023054C>GCA10602848SOS1n.1254G>C
c.141G>C (p.Glu47Asp)
n.1595G>C
n.1381G>C
c.1263G>C (p.Glu421Asp)
c.1374G>C (p.Glu458Asp)
n.218G>C
c.1467G>C (p.Glu489Asp)
c.1353G>C (p.Glu451Asp)
c.1350G>C (p.Glu450Asp)
c.1203G>C (p.Glu401Asp)
c.309G>C (p.Glu103Asp)
 ClinVar dbSNP gnomAD v4
2g.39023054C>TCA425866835SOS1n.1254G>A
c.141G>A (p.Glu47=)
n.1595G>A
n.1381G>A
c.1263G>A (p.Glu421=)
c.1374G>A (p.Glu458=)
n.218G>A
c.1467G>A (p.Glu489=)
c.1353G>A (p.Glu451=)
c.1350G>A (p.Glu450=)
c.1203G>A (p.Glu401=)
c.309G>A (p.Glu103=)
 ClinVar
2g.39023055T>ACA346366322SOS1n.1253A>T
c.140A>T (p.Glu47Val)
n.1594A>T
n.1380A>T
c.1262A>T (p.Glu421Val)
c.1373A>T (p.Glu458Val)
n.217A>T
c.1466A>T (p.Glu489Val)
c.1352A>T (p.Glu451Val)
c.1349A>T (p.Glu450Val)
c.1202A>T (p.Glu401Val)
c.308A>T (p.Glu103Val)
2g.39023055T>CCA346366320SOS1n.1253A>G
c.140A>G (p.Glu47Gly)
n.1594A>G
n.1380A>G
c.1262A>G (p.Glu421Gly)
c.1373A>G (p.Glu458Gly)
n.217A>G
c.1466A>G (p.Glu489Gly)
c.1352A>G (p.Glu451Gly)
c.1349A>G (p.Glu450Gly)
c.1202A>G (p.Glu401Gly)
c.308A>G (p.Glu103Gly)
2g.39023055T>GCA346366321SOS1n.1253A>C
c.140A>C (p.Glu47Ala)
n.1594A>C
n.1380A>C
c.1262A>C (p.Glu421Ala)
c.1373A>C (p.Glu458Ala)
n.217A>C
c.1466A>C (p.Glu489Ala)
c.1352A>C (p.Glu451Ala)
c.1349A>C (p.Glu450Ala)
c.1202A>C (p.Glu401Ala)
c.308A>C (p.Glu103Ala)
2g.39023056C>ACA346366323SOS1n.1252G>T
c.139G>T (p.Glu47Ter)
n.1593G>T
n.1379G>T
c.1261G>T (p.Glu421Ter)
c.1372G>T (p.Glu458Ter)
n.216G>T
c.1465G>T (p.Glu489Ter)
c.1351G>T (p.Glu451Ter)
c.1348G>T (p.Glu450Ter)
c.1201G>T (p.Glu401Ter)
c.307G>T (p.Glu103Ter)
2g.39023056C>GCA346366324SOS1n.1252G>C
c.139G>C (p.Glu47Gln)
n.1593G>C
n.1379G>C
c.1261G>C (p.Glu421Gln)
c.1372G>C (p.Glu458Gln)
n.216G>C
c.1465G>C (p.Glu489Gln)
c.1351G>C (p.Glu451Gln)
c.1348G>C (p.Glu450Gln)
c.1201G>C (p.Glu401Gln)
c.307G>C (p.Glu103Gln)
2g.39023056C>TCA346366325SOS1n.1252G>A
c.139G>A (p.Glu47Lys)
n.1593G>A
n.1379G>A
c.1261G>A (p.Glu421Lys)
c.1372G>A (p.Glu458Lys)
n.216G>A
c.1465G>A (p.Glu489Lys)
c.1351G>A (p.Glu451Lys)
c.1348G>A (p.Glu450Lys)
c.1201G>A (p.Glu401Lys)
c.307G>A (p.Glu103Lys)
 COSMIC
2g.39023057A>CCA346366326SOS1n.1251T>G
c.138T>G (p.His46Gln)
n.1592T>G
n.1378T>G
c.1260T>G (p.His420Gln)
c.1371T>G (p.His457Gln)
n.215T>G
c.1464T>G (p.His488Gln)
c.1350T>G (p.His450Gln)
c.1347T>G (p.His449Gln)
c.1200T>G (p.His400Gln)
c.306T>G (p.His102Gln)
2g.39023057A>GCA425866836SOS1n.1251T>C
c.138T>C (p.His46=)
n.1592T>C
n.1378T>C
c.1260T>C (p.His420=)
c.1371T>C (p.His457=)
n.215T>C
c.1464T>C (p.His488=)
c.1350T>C (p.His450=)
c.1347T>C (p.His449=)
c.1200T>C (p.His400=)
c.306T>C (p.His102=)
 dbSNP
2g.39023057A>TCA346366327SOS1n.1251T>A
c.138T>A (p.His46Gln)
n.1592T>A
n.1378T>A
c.1260T>A (p.His420Gln)
c.1371T>A (p.His457Gln)
n.215T>A
c.1464T>A (p.His488Gln)
c.1350T>A (p.His450Gln)
c.1347T>A (p.His449Gln)
c.1200T>A (p.His400Gln)
c.306T>A (p.His102Gln)
2g.39023058T>ACA346366328SOS1n.1250A>T
c.137A>T (p.His46Leu)
n.1591A>T
n.1377A>T
c.1259A>T (p.His420Leu)
c.1370A>T (p.His457Leu)
n.214A>T
c.1463A>T (p.His488Leu)
c.1349A>T (p.His450Leu)
c.1346A>T (p.His449Leu)
c.1199A>T (p.His400Leu)
c.305A>T (p.His102Leu)
2g.39023058T>CCA16610835SOS1n.1250A>G
c.137A>G (p.His46Arg)
n.1591A>G
n.1377A>G
c.1259A>G (p.His420Arg)
c.1370A>G (p.His457Arg)
n.214A>G
c.1463A>G (p.His488Arg)
c.1349A>G (p.His450Arg)
c.1346A>G (p.His449Arg)
c.1199A>G (p.His400Arg)
c.305A>G (p.His102Arg)
 ClinVar dbSNP
2g.39023058T>GCA346366329SOS1n.1250A>C
c.137A>C (p.His46Pro)
n.1591A>C
n.1377A>C
c.1259A>C (p.His420Pro)
c.1370A>C (p.His457Pro)
n.214A>C
c.1463A>C (p.His488Pro)
c.1349A>C (p.His450Pro)
c.1346A>C (p.His449Pro)
c.1199A>C (p.His400Pro)
c.305A>C (p.His102Pro)
2g.39023058T=CA1246139999SOS1n.1250A=
c.137A= (p.His46=)
n.1591A=
n.1377A=
c.1259A= (p.His420=)
c.1370A= (p.His457=)
n.214A=
c.1463A= (p.His488=)
c.1349A= (p.His450=)
c.1346A= (p.His449=)
c.1199A= (p.His400=)
c.305A= (p.His102=)
2g.39023059G>ACA346366330SOS1n.1249C>T
c.136C>T (p.His46Tyr)
n.1590C>T
n.1376C>T
c.1258C>T (p.His420Tyr)
c.1369C>T (p.His457Tyr)
n.213C>T
c.1462C>T (p.His488Tyr)
c.1348C>T (p.His450Tyr)
c.1345C>T (p.His449Tyr)
c.1198C>T (p.His400Tyr)
c.304C>T (p.His102Tyr)
2g.39023059G>CCA346366331SOS1n.1249C>G
c.136C>G (p.His46Asp)
n.1590C>G
n.1376C>G
c.1258C>G (p.His420Asp)
c.1369C>G (p.His457Asp)
n.213C>G
c.1462C>G (p.His488Asp)
c.1348C>G (p.His450Asp)
c.1345C>G (p.His449Asp)
c.1198C>G (p.His400Asp)
c.304C>G (p.His102Asp)
2g.39023059G>TCA346366332SOS1n.1249C>A
c.136C>A (p.His46Asn)
n.1590C>A
n.1376C>A
c.1258C>A (p.His420Asn)
c.1369C>A (p.His457Asn)
n.213C>A
c.1462C>A (p.His488Asn)
c.1348C>A (p.His450Asn)
c.1345C>A (p.His449Asn)
c.1198C>A (p.His400Asn)
c.304C>A (p.His102Asn)
2g.39023060T>ACA346366333SOS1n.1248A>T
c.135A>T (p.Lys45Asn)
n.1589A>T
n.1375A>T
c.1257A>T (p.Lys419Asn)
c.1368A>T (p.Lys456Asn)
n.212A>T
c.1461A>T (p.Lys487Asn)
c.1347A>T (p.Lys449Asn)
c.1344A>T (p.Lys448Asn)
c.1197A>T (p.Lys399Asn)
c.303A>T (p.Lys101Asn)
2g.39023060T>CCA425866837SOS1n.1248A>G
c.135A>G (p.Lys45=)
n.1589A>G
n.1375A>G
c.1257A>G (p.Lys419=)
c.1368A>G (p.Lys456=)
n.212A>G
c.1461A>G (p.Lys487=)
c.1347A>G (p.Lys449=)
c.1344A>G (p.Lys448=)
c.1197A>G (p.Lys399=)
c.303A>G (p.Lys101=)
2g.39023060T>GCA346366334SOS1n.1248A>C
c.135A>C (p.Lys45Asn)
n.1589A>C
n.1375A>C
c.1257A>C (p.Lys419Asn)
c.1368A>C (p.Lys456Asn)
n.212A>C
c.1461A>C (p.Lys487Asn)
c.1347A>C (p.Lys449Asn)
c.1344A>C (p.Lys448Asn)
c.1197A>C (p.Lys399Asn)
c.303A>C (p.Lys101Asn)
 gnomAD v4
2g.39023061T>ACA346366336SOS1n.1247A>T
c.134A>T (p.Lys45Ile)
n.1588A>T
n.1374A>T
c.1256A>T (p.Lys419Ile)
c.1367A>T (p.Lys456Ile)
n.211A>T
c.1460A>T (p.Lys487Ile)
c.1346A>T (p.Lys449Ile)
c.1343A>T (p.Lys448Ile)
c.1196A>T (p.Lys399Ile)
c.302A>T (p.Lys101Ile)
2g.39023061T>CCA346366337SOS1n.1247A>G
c.134A>G (p.Lys45Arg)
n.1588A>G
n.1374A>G
c.1256A>G (p.Lys419Arg)
c.1367A>G (p.Lys456Arg)
n.211A>G
c.1460A>G (p.Lys487Arg)
c.1346A>G (p.Lys449Arg)
c.1343A>G (p.Lys448Arg)
c.1196A>G (p.Lys399Arg)
c.302A>G (p.Lys101Arg)
2g.39023061T>GCA346366335SOS1n.1247A>C
c.134A>C (p.Lys45Thr)
n.1588A>C
n.1374A>C
c.1256A>C (p.Lys419Thr)
c.1367A>C (p.Lys456Thr)
n.211A>C
c.1460A>C (p.Lys487Thr)
c.1346A>C (p.Lys449Thr)
c.1343A>C (p.Lys448Thr)
c.1196A>C (p.Lys399Thr)
c.302A>C (p.Lys101Thr)
2g.39023062T>ACA346366340SOS1n.1246A>T
c.133A>T (p.Lys45Ter)
n.1587A>T
n.1373A>T
c.1255A>T (p.Lys419Ter)
c.1366A>T (p.Lys456Ter)
n.210A>T
c.1459A>T (p.Lys487Ter)
c.1345A>T (p.Lys449Ter)
c.1342A>T (p.Lys448Ter)
c.1195A>T (p.Lys399Ter)
c.301A>T (p.Lys101Ter)
2g.39023062T>CCA346366338SOS1n.1246A>G
c.133A>G (p.Lys45Glu)
n.1587A>G
n.1373A>G
c.1255A>G (p.Lys419Glu)
c.1366A>G (p.Lys456Glu)
n.210A>G
c.1459A>G (p.Lys487Glu)
c.1345A>G (p.Lys449Glu)
c.1342A>G (p.Lys448Glu)
c.1195A>G (p.Lys399Glu)
c.301A>G (p.Lys101Glu)
2g.39023062T>GCA346366339SOS1n.1246A>C
c.133A>C (p.Lys45Gln)
n.1587A>C
n.1373A>C
c.1255A>C (p.Lys419Gln)
c.1366A>C (p.Lys456Gln)
n.210A>C
c.1459A>C (p.Lys487Gln)
c.1345A>C (p.Lys449Gln)
c.1342A>C (p.Lys448Gln)
c.1195A>C (p.Lys399Gln)
c.301A>C (p.Lys101Gln)
2g.39023063G>ACA425866838SOS1n.1245C>T
c.132C>T (p.Ala44=)
n.1586C>T
n.1372C>T
c.1254C>T (p.Ala418=)
c.1365C>T (p.Ala455=)
n.209C>T
c.1458C>T (p.Ala486=)
c.1344C>T (p.Ala448=)
c.1341C>T (p.Ala447=)
c.1194C>T (p.Ala398=)
c.300C>T (p.Ala100=)
2g.39023063G>CCA425866840SOS1n.1245C>G
c.132C>G (p.Ala44=)
n.1586C>G
n.1372C>G
c.1254C>G (p.Ala418=)
c.1365C>G (p.Ala455=)
n.209C>G
c.1458C>G (p.Ala486=)
c.1344C>G (p.Ala448=)
c.1341C>G (p.Ala447=)
c.1194C>G (p.Ala398=)
c.300C>G (p.Ala100=)
 dbSNP gnomAD v3 gnomAD v4
2g.39023063G=CA1246140004SOS1n.1245C=
c.132C= (p.Ala44=)
n.1586C=
n.1372C=
c.1254C= (p.Ala418=)
c.1365C= (p.Ala455=)
n.209C=
c.1458C= (p.Ala486=)
c.1344C= (p.Ala448=)
c.1341C= (p.Ala447=)
c.1194C= (p.Ala398=)
c.300C= (p.Ala100=)
2g.39023063G>TCA425866839SOS1n.1245C>A
c.132C>A (p.Ala44=)
n.1586C>A
n.1372C>A
c.1254C>A (p.Ala418=)
c.1365C>A (p.Ala455=)
n.209C>A
c.1458C>A (p.Ala486=)
c.1344C>A (p.Ala448=)
c.1341C>A (p.Ala447=)
c.1194C>A (p.Ala398=)
c.300C>A (p.Ala100=)
2g.39023064G>ACA346366341SOS1n.1244C>T
c.131C>T (p.Ala44Val)
n.1585C>T
n.1371C>T
c.1253C>T (p.Ala418Val)
c.1364C>T (p.Ala455Val)
n.208C>T
c.1457C>T (p.Ala486Val)
c.1343C>T (p.Ala448Val)
c.1340C>T (p.Ala447Val)
c.1193C>T (p.Ala398Val)
c.299C>T (p.Ala100Val)
2g.39023064G>CCA346366342SOS1n.1244C>G
c.131C>G (p.Ala44Gly)
n.1585C>G
n.1371C>G
c.1253C>G (p.Ala418Gly)
c.1364C>G (p.Ala455Gly)
n.208C>G
c.1457C>G (p.Ala486Gly)
c.1343C>G (p.Ala448Gly)
c.1340C>G (p.Ala447Gly)
c.1193C>G (p.Ala398Gly)
c.299C>G (p.Ala100Gly)
2g.39023064G>TCA346366343SOS1n.1244C>A
c.131C>A (p.Ala44Asp)
n.1585C>A
n.1371C>A
c.1253C>A (p.Ala418Asp)
c.1364C>A (p.Ala455Asp)
n.208C>A
c.1457C>A (p.Ala486Asp)
c.1343C>A (p.Ala448Asp)
c.1340C>A (p.Ala447Asp)
c.1193C>A (p.Ala398Asp)
c.299C>A (p.Ala100Asp)
2g.39023065C>ACA346366344SOS1n.1243G>T
c.130G>T (p.Ala44Ser)
n.1584G>T
n.1370G>T
c.1252G>T (p.Ala418Ser)
c.1363G>T (p.Ala455Ser)
n.207G>T
c.1456G>T (p.Ala486Ser)
c.1342G>T (p.Ala448Ser)
c.1339G>T (p.Ala447Ser)
c.1192G>T (p.Ala398Ser)
c.298G>T (p.Ala100Ser)
2g.39023065C>GCA346366345SOS1n.1243G>C
c.130G>C (p.Ala44Pro)
n.1584G>C
n.1370G>C
c.1252G>C (p.Ala418Pro)
c.1363G>C (p.Ala455Pro)
n.207G>C
c.1456G>C (p.Ala486Pro)
c.1342G>C (p.Ala448Pro)
c.1339G>C (p.Ala447Pro)
c.1192G>C (p.Ala398Pro)
c.298G>C (p.Ala100Pro)
2g.39023065C>TCA346366346SOS1n.1243G>A
c.130G>A (p.Ala44Thr)
n.1584G>A
n.1370G>A
c.1252G>A (p.Ala418Thr)
c.1363G>A (p.Ala455Thr)
n.207G>A
c.1456G>A (p.Ala486Thr)
c.1342G>A (p.Ala448Thr)
c.1339G>A (p.Ala447Thr)
c.1192G>A (p.Ala398Thr)
c.298G>A (p.Ala100Thr)
2g.39023066T>ACA425866841SOS1n.1242A>T
c.129A>T (p.Gly43=)
n.1583A>T
n.1369A>T
c.1251A>T (p.Gly417=)
c.1362A>T (p.Gly454=)
n.206A>T
c.1455A>T (p.Gly485=)
c.1341A>T (p.Gly447=)
c.1338A>T (p.Gly446=)
c.1191A>T (p.Gly397=)
c.297A>T (p.Gly99=)
2g.39023066T>CCA45674835SOS1n.1242A>G
c.129A>G (p.Gly43=)
n.1583A>G
n.1369A>G
c.1251A>G (p.Gly417=)
c.1362A>G (p.Gly454=)
n.206A>G
c.1455A>G (p.Gly485=)
c.1341A>G (p.Gly447=)
c.1338A>G (p.Gly446=)
c.1191A>G (p.Gly397=)
c.297A>G (p.Gly99=)
 dbSNP gnomAD v2 gnomAD v4
2g.39023066T>GCA425866842SOS1n.1242A>C
c.129A>C (p.Gly43=)
n.1583A>C
n.1369A>C
c.1251A>C (p.Gly417=)
c.1362A>C (p.Gly454=)
n.206A>C
c.1455A>C (p.Gly485=)
c.1341A>C (p.Gly447=)
c.1338A>C (p.Gly446=)
c.1191A>C (p.Gly397=)
c.297A>C (p.Gly99=)
2g.39023066T=CA1246140008SOS1n.1242A=
c.129A= (p.Gly43=)
n.1583A=
n.1369A=
c.1251A= (p.Gly417=)
c.1362A= (p.Gly454=)
n.206A=
c.1455A= (p.Gly485=)
c.1341A= (p.Gly447=)
c.1338A= (p.Gly446=)
c.1191A= (p.Gly397=)
c.297A= (p.Gly99=)
2g.39023067C>ACA346366347SOS1n.1241G>T
c.128G>T (p.Gly43Val)
n.1582G>T
n.1368G>T
c.1250G>T (p.Gly417Val)
c.1361G>T (p.Gly454Val)
n.205G>T
c.1454G>T (p.Gly485Val)
c.1340G>T (p.Gly447Val)
c.1337G>T (p.Gly446Val)
c.1190G>T (p.Gly397Val)
c.296G>T (p.Gly99Val)
2g.39023067C>GCA346366348SOS1n.1241G>C
c.128G>C (p.Gly43Ala)
n.1582G>C
n.1368G>C
c.1250G>C (p.Gly417Ala)
c.1361G>C (p.Gly454Ala)
n.205G>C
c.1454G>C (p.Gly485Ala)
c.1340G>C (p.Gly447Ala)
c.1337G>C (p.Gly446Ala)
c.1190G>C (p.Gly397Ala)
c.296G>C (p.Gly99Ala)
2g.39023067C>TCA346366349SOS1n.1241G>A
c.128G>A (p.Gly43Glu)
n.1582G>A
n.1368G>A
c.1250G>A (p.Gly417Glu)
c.1361G>A (p.Gly454Glu)
n.205G>A
c.1454G>A (p.Gly485Glu)
c.1340G>A (p.Gly447Glu)
c.1337G>A (p.Gly446Glu)
c.1190G>A (p.Gly397Glu)
c.296G>A (p.Gly99Glu)
 COSMIC
2g.39023068C>ACA346366352SOS1n.1240G>T
c.127G>T (p.Gly43Ter)
n.1581G>T
n.1367G>T
c.1249G>T (p.Gly417Ter)
c.1360G>T (p.Gly454Ter)
n.204G>T
c.1453G>T (p.Gly485Ter)
c.1339G>T (p.Gly447Ter)
c.1336G>T (p.Gly446Ter)
c.1189G>T (p.Gly397Ter)
c.295G>T (p.Gly99Ter)
2g.39023068C>GCA346366351SOS1n.1240G>C
c.127G>C (p.Gly43Arg)
n.1581G>C
n.1367G>C
c.1249G>C (p.Gly417Arg)
c.1360G>C (p.Gly454Arg)
n.204G>C
c.1453G>C (p.Gly485Arg)
c.1339G>C (p.Gly447Arg)
c.1336G>C (p.Gly446Arg)
c.1189G>C (p.Gly397Arg)
c.295G>C (p.Gly99Arg)
2g.39023068C>TCA346366350SOS1n.1240G>A
c.127G>A (p.Gly43Arg)
n.1581G>A
n.1367G>A
c.1249G>A (p.Gly417Arg)
c.1360G>A (p.Gly454Arg)
n.204G>A
c.1453G>A (p.Gly485Arg)
c.1339G>A (p.Gly447Arg)
c.1336G>A (p.Gly446Arg)
c.1189G>A (p.Gly397Arg)
c.295G>A (p.Gly99Arg)
2g.39023069T>ACA425866843SOS1n.1239A>T
c.126A>T (p.Val42=)
n.1580A>T
n.1366A>T
c.1248A>T (p.Val416=)
c.1359A>T (p.Val453=)
n.203A>T
c.1452A>T (p.Val484=)
c.1338A>T (p.Val446=)
c.1335A>T (p.Val445=)
c.1188A>T (p.Val396=)
c.294A>T (p.Val98=)
2g.39023069T>CCA1624602SOS1n.1239A>G
c.126A>G (p.Val42=)
n.1580A>G
n.1366A>G
c.1248A>G (p.Val416=)
c.1359A>G (p.Val453=)
n.203A>G
c.1452A>G (p.Val484=)
c.1338A>G (p.Val446=)
c.1335A>G (p.Val445=)
c.1188A>G (p.Val396=)
c.294A>G (p.Val98=)
 ClinVar dbSNP ExAC gnomAD v4
2g.39023069T>GCA425866844SOS1n.1239A>C
c.126A>C (p.Val42=)
n.1580A>C
n.1366A>C
c.1248A>C (p.Val416=)
c.1359A>C (p.Val453=)
n.203A>C
c.1452A>C (p.Val484=)
c.1338A>C (p.Val446=)
c.1335A>C (p.Val445=)
c.1188A>C (p.Val396=)
c.294A>C (p.Val98=)
2g.39023069T=CA1246140012SOS1n.1239A=
c.126A= (p.Val42=)
n.1580A=
n.1366A=
c.1248A= (p.Val416=)
c.1359A= (p.Val453=)
n.203A=
c.1452A= (p.Val484=)
c.1338A= (p.Val446=)
c.1335A= (p.Val445=)
c.1188A= (p.Val396=)
c.294A= (p.Val98=)
2g.39023070A>CCA346366353SOS1n.1238T>G
c.125T>G (p.Val42Gly)
n.1579T>G
n.1365T>G
c.1247T>G (p.Val416Gly)
c.1358T>G (p.Val453Gly)
n.202T>G
c.1451T>G (p.Val484Gly)
c.1337T>G (p.Val446Gly)
c.1334T>G (p.Val445Gly)
c.1187T>G (p.Val396Gly)
c.293T>G (p.Val98Gly)
2g.39023070A>GCA346366354SOS1n.1238T>C
c.125T>C (p.Val42Ala)
n.1579T>C
n.1365T>C
c.1247T>C (p.Val416Ala)
c.1358T>C (p.Val453Ala)
n.202T>C
c.1451T>C (p.Val484Ala)
c.1337T>C (p.Val446Ala)
c.1334T>C (p.Val445Ala)
c.1187T>C (p.Val396Ala)
c.293T>C (p.Val98Ala)
2g.39023070A>TCA346366355SOS1n.1238T>A
c.125T>A (p.Val42Glu)
n.1579T>A
n.1365T>A
c.1247T>A (p.Val416Glu)
c.1358T>A (p.Val453Glu)
n.202T>A
c.1451T>A (p.Val484Glu)
c.1337T>A (p.Val446Glu)
c.1334T>A (p.Val445Glu)
c.1187T>A (p.Val396Glu)
c.293T>A (p.Val98Glu)
2g.39023071C>ACA346366356SOS1n.1237G>T
c.124G>T (p.Val42Leu)
n.1578G>T
n.1364G>T
c.1246G>T (p.Val416Leu)
c.1357G>T (p.Val453Leu)
n.201G>T
c.1450G>T (p.Val484Leu)
c.1336G>T (p.Val446Leu)
c.1333G>T (p.Val445Leu)
c.1186G>T (p.Val396Leu)
c.292G>T (p.Val98Leu)
2g.39023071C=CA1246140021SOS1n.1237G=
c.124G= (p.Val42=)
n.1578G=
n.1364G=
c.1246G= (p.Val416=)
c.1357G= (p.Val453=)
n.201G=
c.1450G= (p.Val484=)
c.1336G= (p.Val446=)
c.1333G= (p.Val445=)
c.1186G= (p.Val396=)
c.292G= (p.Val98=)
2g.39023071C>GCA346366357SOS1n.1237G>C
c.124G>C (p.Val42Leu)
n.1578G>C
n.1364G>C
c.1246G>C (p.Val416Leu)
c.1357G>C (p.Val453Leu)
n.201G>C
c.1450G>C (p.Val484Leu)
c.1336G>C (p.Val446Leu)
c.1333G>C (p.Val445Leu)
c.1186G>C (p.Val396Leu)
c.292G>C (p.Val98Leu)
2g.39023071C>TCA346366358SOS1n.1237G>A
c.124G>A (p.Val42Ile)
n.1578G>A
n.1364G>A
c.1246G>A (p.Val416Ile)
c.1357G>A (p.Val453Ile)
n.201G>A
c.1450G>A (p.Val484Ile)
c.1336G>A (p.Val446Ile)
c.1333G>A (p.Val445Ile)
c.1186G>A (p.Val396Ile)
c.292G>A (p.Val98Ile)
 ClinVar dbSNP gnomAD v4
2g.39023072A>CCA425866845SOS1n.1236T>G
c.123T>G (p.Arg41=)
n.1577T>G
n.1363T>G
c.1245T>G (p.Arg415=)
c.1356T>G (p.Arg452=)
n.200T>G
c.1449T>G (p.Arg483=)
c.1335T>G (p.Arg445=)
c.1332T>G (p.Arg444=)
c.1185T>G (p.Arg395=)
c.291T>G (p.Arg97=)
2g.39023072A>GCA425866846SOS1n.1236T>C
c.123T>C (p.Arg41=)
n.1577T>C
n.1363T>C
c.1245T>C (p.Arg415=)
c.1356T>C (p.Arg452=)
n.200T>C
c.1449T>C (p.Arg483=)
c.1335T>C (p.Arg445=)
c.1332T>C (p.Arg444=)
c.1185T>C (p.Arg395=)
c.291T>C (p.Arg97=)
2g.39023072A>TCA425866847SOS1n.1236T>A
c.123T>A (p.Arg41=)
n.1577T>A
n.1363T>A
c.1245T>A (p.Arg415=)
c.1356T>A (p.Arg452=)
n.200T>A
c.1449T>A (p.Arg483=)
c.1335T>A (p.Arg445=)
c.1332T>A (p.Arg444=)
c.1185T>A (p.Arg395=)
c.291T>A (p.Arg97=)
2g.39023073C>ACA346366359SOS1n.1235G>T
c.122G>T (p.Arg41Leu)
n.1576G>T
n.1362G>T
c.1244G>T (p.Arg415Leu)
c.1355G>T (p.Arg452Leu)
n.199G>T
c.1448G>T (p.Arg483Leu)
c.1334G>T (p.Arg445Leu)
c.1331G>T (p.Arg444Leu)
c.1184G>T (p.Arg395Leu)
c.290G>T (p.Arg97Leu)
2g.39023073C>GCA346366360SOS1n.1235G>C
c.122G>C (p.Arg41Pro)
n.1576G>C
n.1362G>C
c.1244G>C (p.Arg415Pro)
c.1355G>C (p.Arg452Pro)
n.199G>C
c.1448G>C (p.Arg483Pro)
c.1334G>C (p.Arg445Pro)
c.1331G>C (p.Arg444Pro)
c.1184G>C (p.Arg395Pro)
c.290G>C (p.Arg97Pro)
 ClinVar gnomAD v4
2g.39023073C>TCA346366361SOS1n.1235G>A
c.122G>A (p.Arg41His)
n.1576G>A
n.1362G>A
c.1244G>A (p.Arg415His)
c.1355G>A (p.Arg452His)
n.199G>A
c.1448G>A (p.Arg483His)
c.1334G>A (p.Arg445His)
c.1331G>A (p.Arg444His)
c.1184G>A (p.Arg395His)
c.290G>A (p.Arg97His)

Number of alleles fetched