UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.74636470G>A | CA496542775 | RFWD3 | c.1302C>T (p.His434=) c.468C>T (p.His156=) | |
| 16 | g.74636470G>C | CA8169256 | RFWD3 | c.1302C>G (p.His434Gln) c.468C>G (p.His156Gln) | dbSNP ExAC gnomAD v2 |
| 16 | g.74636470G= | CA2232905959 | RFWD3 | c.1302C= (p.His434=) c.468C= (p.His156=) | |
| 16 | g.74636470G>T | CA396761863 | RFWD3 | c.1302C>A (p.His434Gln) c.468C>A (p.His156Gln) | |
| 16 | g.74636471T>A | CA396761866 | RFWD3 | c.1301A>T (p.His434Leu) c.467A>T (p.His156Leu) | |
| 16 | g.74636471T>C | CA396761868 | RFWD3 | c.1301A>G (p.His434Arg) c.467A>G (p.His156Arg) | gnomAD v4 |
| 16 | g.74636471T>G | CA396761869 | RFWD3 | c.1301A>C (p.His434Pro) c.467A>C (p.His156Pro) | |
| 16 | g.74636472G>A | CA396761876 | RFWD3 | c.1300C>T (p.His434Tyr) c.466C>T (p.His156Tyr) | |
| 16 | g.74636472G>C | CA396761874 | RFWD3 | c.1300C>G (p.His434Asp) c.466C>G (p.His156Asp) | gnomAD v4 |
| 16 | g.74636472G>T | CA396761872 | RFWD3 | c.1300C>A (p.His434Asn) c.466C>A (p.His156Asn) | |
| 16 | g.74636473C>A | CA396761878 | RFWD3 | c.1299G>T (p.Lys433Asn) c.465G>T (p.Lys155Asn) | gnomAD v4 |
| 16 | g.74636473C>G | CA396761880 | RFWD3 | c.1299G>C (p.Lys433Asn) c.465G>C (p.Lys155Asn) | |
| 16 | g.74636473C>T | CA496542785 | RFWD3 | c.1299G>A (p.Lys433=) c.465G>A (p.Lys155=) | dbSNP |
| 16 | g.74636474T>A | CA396761882 | RFWD3 | c.1298A>T (p.Lys433Met) c.464A>T (p.Lys155Met) | |
| 16 | g.74636474T>C | CA396761884 | RFWD3 | c.1298A>G (p.Lys433Arg) c.464A>G (p.Lys155Arg) | |
| 16 | g.74636474T>G | CA396761886 | RFWD3 | c.1298A>C (p.Lys433Thr) c.464A>C (p.Lys155Thr) | |
| 16 | g.74636475T>A | CA396761887 | RFWD3 | c.1297A>T (p.Lys433Ter) c.463A>T (p.Lys155Ter) | |
| 16 | g.74636475T>C | CA8169257 | RFWD3 | c.1297A>G (p.Lys433Glu) c.463A>G (p.Lys155Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.74636475T>G | CA396761890 | RFWD3 | c.1297A>C (p.Lys433Gln) c.463A>C (p.Lys155Gln) | dbSNP gnomAD v2 |
| 16 | g.74636475T= | CA2232905960 | RFWD3 | c.1297A= (p.Lys433=) c.463A= (p.Lys155=) | |
| 16 | g.74636476G>A | CA496542797 | RFWD3 | c.1296C>T (p.His432=) c.462C>T (p.His154=) | |
| 16 | g.74636476G>C | CA396761893 | RFWD3 | c.1296C>G (p.His432Gln) c.462C>G (p.His154Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.74636476G= | CA2232905961 | RFWD3 | c.1296C= (p.His432=) c.462C= (p.His154=) | |
| 16 | g.74636476G>T | CA396761894 | RFWD3 | c.1296C>A (p.His432Gln) c.462C>A (p.His154Gln) | |
| 16 | g.74636477T>A | CA396761896 | RFWD3 | c.1295A>T (p.His432Leu) c.461A>T (p.His154Leu) | |
| 16 | g.74636477T>C | CA396761898 | RFWD3 | c.1295A>G (p.His432Arg) c.461A>G (p.His154Arg) | |
| 16 | g.74636477T>G | CA396761900 | RFWD3 | c.1295A>C (p.His432Pro) c.461A>C (p.His154Pro) | |
| 16 | g.74636478G>A | CA283745857 | RFWD3 | c.1294C>T (p.His432Tyr) c.460C>T (p.His154Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.74636478G>C | CA396761906 | RFWD3 | c.1294C>G (p.His432Asp) c.460C>G (p.His154Asp) | |
| 16 | g.74636478G= | CA2232905962 | RFWD3 | c.1294C= (p.His432=) c.460C= (p.His154=) | |
| 16 | g.74636478G>T | CA396761903 | RFWD3 | c.1294C>A (p.His432Asn) c.460C>A (p.His154Asn) | |
| 16 | g.74636479C>A | CA396761908 | RFWD3 | c.1293G>T (p.Gln431His) c.459G>T (p.Gln153His) | |
| 16 | g.74636479C= | CA2232905963 | RFWD3 | c.1293G= (p.Gln431=) c.459G= (p.Gln153=) | |
| 16 | g.74636479C>G | CA396761909 | RFWD3 | c.1293G>C (p.Gln431His) c.459G>C (p.Gln153His) | |
| 16 | g.74636479C>T | CA496542815 | RFWD3 | c.1293G>A (p.Gln431=) c.459G>A (p.Gln153=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.74636480T>A | CA396761910 | RFWD3 | c.1292A>T (p.Gln431Leu) c.458A>T (p.Gln153Leu) | |
| 16 | g.74636480T>C | CA396761912 | RFWD3 | c.1292A>G (p.Gln431Arg) c.458A>G (p.Gln153Arg) | |
| 16 | g.74636480T>G | CA396761914 | RFWD3 | c.1292A>C (p.Gln431Pro) c.458A>C (p.Gln153Pro) | |
| 16 | g.74636481G>A | CA396761917 | RFWD3 | c.1291C>T (p.Gln431Ter) c.457C>T (p.Gln153Ter) | |
| 16 | g.74636481G>C | CA396761919 | RFWD3 | c.1291C>G (p.Gln431Glu) c.457C>G (p.Gln153Glu) | |
| 16 | g.74636481G>T | CA396761921 | RFWD3 | c.1291C>A (p.Gln431Lys) c.457C>A (p.Gln153Lys) | |
| 16 | g.74636482G>A | CA496542829 | RFWD3 | c.1290C>T (p.Gly430=) c.456C>T (p.Gly152=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.74636482G>C | CA496542831 | RFWD3 | c.1290C>G (p.Gly430=) c.456C>G (p.Gly152=) | |
| 16 | g.74636482G= | CA2232905964 | RFWD3 | c.1290C= (p.Gly430=) c.456C= (p.Gly152=) | |
| 16 | g.74636482G>T | CA496542828 | RFWD3 | c.1290C>A (p.Gly430=) c.456C>A (p.Gly152=) | |
| 16 | g.74636483C>A | CA283745863 | RFWD3 | c.1289G>T (p.Gly430Val) c.455G>T (p.Gly152Val) | dbSNP |
| 16 | g.74636483C= | CA2232905965 | RFWD3 | c.1289G= (p.Gly430=) c.455G= (p.Gly152=) | |
| 16 | g.74636483C>G | CA396761924 | RFWD3 | c.1289G>C (p.Gly430Ala) c.455G>C (p.Gly152Ala) | |
| 16 | g.74636483C>T | CA283745866 | RFWD3 | c.1289G>A (p.Gly430Asp) c.455G>A (p.Gly152Asp) | dbSNP gnomAD v4 |
| 16 | g.74636484C>A | CA396761927 | RFWD3 | c.1288G>T (p.Gly430Cys) c.454G>T (p.Gly152Cys) | |
| 16 | g.74636484C= | CA2232905966 | RFWD3 | c.1288G= (p.Gly430=) c.454G= (p.Gly152=) | |
| 16 | g.74636484C>G | CA396761928 | RFWD3 | c.1288G>C (p.Gly430Arg) c.454G>C (p.Gly152Arg) | |
| 16 | g.74636484C>T | CA8169258 | RFWD3 | c.1288G>A (p.Gly430Ser) c.454G>A (p.Gly152Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.74636484_74636500delinsCCTGGCTGGAGGGTGAG | CA2232905967 | RFWD3 | c.1272_1288delinsCTCACCCTCCAGCCAGG (p.Cys424=) c.438_454delinsCTCACCCTCCAGCCAGG (p.Cys146=) | |
| 16 | g.74636485C>A | CA396761930 | RFWD3 | c.1287G>T (p.Gln429His) c.453G>T (p.Gln151His) | |
| 16 | g.74636485C>G | CA396761932 | RFWD3 | c.1287G>C (p.Gln429His) c.453G>C (p.Gln151His) | |
| 16 | g.74636485C>T | CA496542841 | RFWD3 | c.1287G>A (p.Gln429=) c.453G>A (p.Gln151=) | |
| 16 | g.74636486_74636501del | CA2232905968 | RFWD3 | c.1272_1287del (p.Cys424TrpfsTer?) c.438_453del (p.Cys146TrpfsTer?) | dbSNP |
| 16 | g.74636486T>A | CA396761934 | RFWD3 | c.1286A>T (p.Gln429Leu) c.452A>T (p.Gln151Leu) | |
| 16 | g.74636486T>C | CA8169259 | RFWD3 | c.1286A>G (p.Gln429Arg) c.452A>G (p.Gln151Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.74636486T>G | CA396761937 | RFWD3 | c.1286A>C (p.Gln429Pro) c.452A>C (p.Gln151Pro) | |
| 16 | g.74636486T= | CA2232905969 | RFWD3 | c.1286A= (p.Gln429=) c.452A= (p.Gln151=) | |
| 16 | g.74636487G>A | CA396761939 | RFWD3 | c.1285C>T (p.Gln429Ter) c.451C>T (p.Gln151Ter) | |
| 16 | g.74636487G>C | CA396761941 | RFWD3 | c.1285C>G (p.Gln429Glu) c.451C>G (p.Gln151Glu) | |
| 16 | g.74636487G>T | CA396761943 | RFWD3 | c.1285C>A (p.Gln429Lys) c.451C>A (p.Gln151Lys) | |
| 16 | g.74636488G>A | CA496542851 | RFWD3 | c.1284C>T (p.Ser428=) c.450C>T (p.Ser150=) | gnomAD v4 |
| 16 | g.74636488G>C | CA396761946 | RFWD3 | c.1284C>G (p.Ser428Arg) c.450C>G (p.Ser150Arg) | |
| 16 | g.74636488G>T | CA396761947 | RFWD3 | c.1284C>A (p.Ser428Arg) c.450C>A (p.Ser150Arg) | |
| 16 | g.74636489C>A | CA396761950 | RFWD3 | c.1283G>T (p.Ser428Ile) c.449G>T (p.Ser150Ile) | |
| 16 | g.74636489C>G | CA396761951 | RFWD3 | c.1283G>C (p.Ser428Thr) c.449G>C (p.Ser150Thr) | |
| 16 | g.74636489C>T | CA396761953 | RFWD3 | c.1283G>A (p.Ser428Asn) c.449G>A (p.Ser150Asn) | |
| 16 | g.74636490T>A | CA396761957 | RFWD3 | c.1282A>T (p.Ser428Cys) c.448A>T (p.Ser150Cys) | |
| 16 | g.74636490T>C | CA396761959 | RFWD3 | c.1282A>G (p.Ser428Gly) c.448A>G (p.Ser150Gly) | |
| 16 | g.74636490T>G | CA396761955 | RFWD3 | c.1282A>C (p.Ser428Arg) c.448A>C (p.Ser150Arg) | |
| 16 | g.74636491G>A | CA496542865 | RFWD3 | c.1281C>T (p.Ser427=) c.447C>T (p.Ser149=) | |
| 16 | g.74636491G>C | CA496542867 | RFWD3 | c.1281C>G (p.Ser427=) c.447C>G (p.Ser149=) | |
| 16 | g.74636491G>T | CA496542869 | RFWD3 | c.1281C>A (p.Ser427=) c.447C>A (p.Ser149=) | |
| 16 | g.74636492G>A | CA396761962 | RFWD3 | c.1280C>T (p.Ser427Phe) c.446C>T (p.Ser149Phe) | COSMIC |
| 16 | g.74636492G>C | CA396761964 | RFWD3 | c.1280C>G (p.Ser427Cys) c.446C>G (p.Ser149Cys) | gnomAD v4 |
| 16 | g.74636492G>T | CA396761966 | RFWD3 | c.1280C>A (p.Ser427Tyr) c.446C>A (p.Ser149Tyr) | |
| 16 | g.74636493A>C | CA396761968 | RFWD3 | c.1279T>G (p.Ser427Ala) c.445T>G (p.Ser149Ala) | |
| 16 | g.74636493A>G | CA396761970 | RFWD3 | c.1279T>C (p.Ser427Pro) c.445T>C (p.Ser149Pro) | |
| 16 | g.74636493A>T | CA396761972 | RFWD3 | c.1279T>A (p.Ser427Thr) c.445T>A (p.Ser149Thr) | |
| 16 | g.74636494G>A | CA496542878 | RFWD3 | c.1278C>T (p.Pro426=) c.444C>T (p.Pro148=) | gnomAD v4 |
| 16 | g.74636494G>C | CA496542881 | RFWD3 | c.1278C>G (p.Pro426=) c.444C>G (p.Pro148=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.74636494G= | CA2232905970 | RFWD3 | c.1278C= (p.Pro426=) c.444C= (p.Pro148=) | |
| 16 | g.74636494G>T | CA496542884 | RFWD3 | c.1278C>A (p.Pro426=) c.444C>A (p.Pro148=) | |
| 16 | g.74636495G>A | CA396761975 | RFWD3 | c.1277C>T (p.Pro426Leu) c.443C>T (p.Pro148Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.74636495G>C | CA396761976 | RFWD3 | c.1277C>G (p.Pro426Arg) c.443C>G (p.Pro148Arg) | |
| 16 | g.74636495G= | CA2232905971 | RFWD3 | c.1277C= (p.Pro426=) c.443C= (p.Pro148=) | |
| 16 | g.74636495G>T | CA396761978 | RFWD3 | c.1277C>A (p.Pro426His) c.443C>A (p.Pro148His) | |
| 16 | g.74636496G>A | CA396761980 | RFWD3 | c.1276C>T (p.Pro426Ser) c.442C>T (p.Pro148Ser) | gnomAD v4 |
| 16 | g.74636496G>C | CA396761982 | RFWD3 | c.1276C>G (p.Pro426Ala) c.442C>G (p.Pro148Ala) | gnomAD v4 |
| 16 | g.74636496G>T | CA396761984 | RFWD3 | c.1276C>A (p.Pro426Thr) c.442C>A (p.Pro148Thr) | gnomAD v4 |
| 16 | g.74636497T>A | CA496542892 | RFWD3 | c.1275A>T (p.Ser425=) c.441A>T (p.Ser147=) | |
| 16 | g.74636497T>C | CA8169260 | RFWD3 | c.1275A>G (p.Ser425=) c.441A>G (p.Ser147=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.74636497T>G | CA496542894 | RFWD3 | c.1275A>C (p.Ser425=) c.441A>C (p.Ser147=) | |
| 16 | g.74636497T= | CA2232905972 | RFWD3 | c.1275A= (p.Ser425=) c.441A= (p.Ser147=) | |
| 16 | g.74636498del | CA2634278647 | RFWD3 | c.1274del (p.Ser425TyrfsTer?) c.440del (p.Ser147TyrfsTer?) | gnomAD v4 |
| 16 | g.74636498G>A | CA396761990 | RFWD3 | c.1274C>T (p.Ser425Leu) c.440C>T (p.Ser147Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.74636498G>C | CA396761988 | RFWD3 | c.1274C>G (p.Ser425Ter) c.440C>G (p.Ser147Ter) | |
| 16 | g.74636498G= | CA2232905973 | RFWD3 | c.1274C= (p.Ser425=) c.440C= (p.Ser147=) | |
| 16 | g.74636498G>T | CA396761987 | RFWD3 | c.1274C>A (p.Ser425Ter) c.440C>A (p.Ser147Ter) | gnomAD v4 |
| 16 | g.74636499A>C | CA396761992 | RFWD3 | c.1273T>G (p.Ser425Ala) c.439T>G (p.Ser147Ala) | |
| 16 | g.74636499A>G | CA396761993 | RFWD3 | c.1273T>C (p.Ser425Pro) c.439T>C (p.Ser147Pro) | |
| 16 | g.74636499A>T | CA396761995 | RFWD3 | c.1273T>A (p.Ser425Thr) c.439T>A (p.Ser147Thr) | |
| 16 | g.74636500G>A | CA496542904 | RFWD3 | c.1272C>T (p.Cys424=) c.438C>T (p.Cys146=) | gnomAD v4 |
| 16 | g.74636500G>C | CA396761997 | RFWD3 | c.1272C>G (p.Cys424Trp) c.438C>G (p.Cys146Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.74636500G= | CA2232905974 | RFWD3 | c.1272C= (p.Cys424=) c.438C= (p.Cys146=) | |
| 16 | g.74636500G>T | CA396761998 | RFWD3 | c.1272C>A (p.Cys424Ter) c.438C>A (p.Cys146Ter) | |
| 16 | g.74636501C>A | CA396762001 | RFWD3 | c.1271G>T (p.Cys424Phe) c.437G>T (p.Cys146Phe) | gnomAD v4 |
| 16 | g.74636501C>G | CA396762002 | RFWD3 | c.1271G>C (p.Cys424Ser) c.437G>C (p.Cys146Ser) | |
| 16 | g.74636501C>T | CA396762003 | RFWD3 | c.1271G>A (p.Cys424Tyr) c.437G>A (p.Cys146Tyr) | |
| 16 | g.74636502A>C | CA396762005 | RFWD3 | c.1270T>G (p.Cys424Gly) c.436T>G (p.Cys146Gly) | |
| 16 | g.74636502A>G | CA396762006 | RFWD3 | c.1270T>C (p.Cys424Arg) c.436T>C (p.Cys146Arg) | |
| 16 | g.74636502A>T | CA396762007 | RFWD3 | c.1270T>A (p.Cys424Ser) c.436T>A (p.Cys146Ser) | gnomAD v4 |
| 16 | g.74636503G>A | CA496542919 | RFWD3 | c.1269C>T (p.Ser423=) c.435C>T (p.Ser145=) | |
| 16 | g.74636503G>C | CA396762009 | RFWD3 | c.1269C>G (p.Ser423Arg) c.435C>G (p.Ser145Arg) | |
| 16 | g.74636503G>T | CA396762011 | RFWD3 | c.1269C>A (p.Ser423Arg) c.435C>A (p.Ser145Arg) | |
| 16 | g.74636504C>A | CA396762015 | RFWD3 | c.1268G>T (p.Ser423Ile) c.434G>T (p.Ser145Ile) | |
| 16 | g.74636504C= | CA2232905975 | RFWD3 | c.1268G= (p.Ser423=) c.434G= (p.Ser145=) | |
| 16 | g.74636504C>G | CA396762017 | RFWD3 | c.1268G>C (p.Ser423Thr) c.434G>C (p.Ser145Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.74636504C>T | CA396762014 | RFWD3 | c.1268G>A (p.Ser423Asn) c.434G>A (p.Ser145Asn) | |
| 16 | g.74636505T>A | CA396762021 | RFWD3 | c.1267A>T (p.Ser423Cys) c.433A>T (p.Ser145Cys) | |
| 16 | g.74636505T>C | CA396762020 | RFWD3 | c.1267A>G (p.Ser423Gly) c.433A>G (p.Ser145Gly) | |
| 16 | g.74636505T>G | CA396762023 | RFWD3 | c.1267A>C (p.Ser423Arg) c.433A>C (p.Ser145Arg) | |
| 16 | g.74636506C>A | CA496542936 | RFWD3 | c.1266G>T (p.Leu422=) c.432G>T (p.Leu144=) | |
| 16 | g.74636506C>G | CA496542937 | RFWD3 | c.1266G>C (p.Leu422=) c.432G>C (p.Leu144=) | |
| 16 | g.74636506C>T | CA496542939 | RFWD3 | c.1266G>A (p.Leu422=) c.432G>A (p.Leu144=) | |
| 16 | g.74636507A>C | CA396762025 | RFWD3 | c.1265T>G (p.Leu422Arg) c.431T>G (p.Leu144Arg) | |
| 16 | g.74636507A>G | CA396762028 | RFWD3 | c.1265T>C (p.Leu422Pro) c.431T>C (p.Leu144Pro) | |
| 16 | g.74636507A>T | CA396762026 | RFWD3 | c.1265T>A (p.Leu422Gln) c.431T>A (p.Leu144Gln) | |
| 16 | g.74636508G>A | CA283745889 | RFWD3 | c.1264C>T (p.Leu422=) c.430C>T (p.Leu144=) | dbSNP |
| 16 | g.74636508G>C | CA396762034 | RFWD3 | c.1264C>G (p.Leu422Val) c.430C>G (p.Leu144Val) | |
| 16 | g.74636508G= | CA2232905976 | RFWD3 | c.1264C= (p.Leu422=) c.430C= (p.Leu144=) | |
| 16 | g.74636508G>T | CA396762032 | RFWD3 | c.1264C>A (p.Leu422Met) c.430C>A (p.Leu144Met) | |
| 16 | g.74636509G>A | CA496542950 | RFWD3 | c.1263C>T (p.Val421=) c.429C>T (p.Val143=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.74636509G>C | CA496542954 | RFWD3 | c.1263C>G (p.Val421=) c.429C>G (p.Val143=) | gnomAD v4 |
| 16 | g.74636509G= | CA2232905977 | RFWD3 | c.1263C= (p.Val421=) c.429C= (p.Val143=) | |
| 16 | g.74636509G>T | CA496542956 | RFWD3 | c.1263C>A (p.Val421=) c.429C>A (p.Val143=) | |
| 16 | g.74636510A= | CA2232905978 | RFWD3 | c.1262T= (p.Val421=) c.428T= (p.Val143=) | |
| 16 | g.74636510A>C | CA396762036 | RFWD3 | c.1262T>G (p.Val421Gly) c.428T>G (p.Val143Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.74636510A>G | CA396762038 | RFWD3 | c.1262T>C (p.Val421Ala) c.428T>C (p.Val143Ala) | |
| 16 | g.74636510A>T | CA396762040 | RFWD3 | c.1262T>A (p.Val421Asp) c.428T>A (p.Val143Asp) | |
| 16 | g.74636511C>A | CA396762042 | RFWD3 | c.1261G>T (p.Val421Phe) c.427G>T (p.Val143Phe) | |
| 16 | g.74636511C= | CA2232905979 | RFWD3 | c.1261G= (p.Val421=) c.427G= (p.Val143=) | |
| 16 | g.74636511C>G | CA396762045 | RFWD3 | c.1261G>C (p.Val421Leu) c.427G>C (p.Val143Leu) | |
| 16 | g.74636511C>T | CA396762047 | RFWD3 | c.1261G>A (p.Val421Ile) c.427G>A (p.Val143Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.74636512C>A | CA396762049 | RFWD3 | c.1260G>T (p.Trp420Cys) c.426G>T (p.Trp142Cys) | dbSNP gnomAD v4 |
| 16 | g.74636512C= | CA2232905980 | RFWD3 | c.1260G= (p.Trp420=) c.426G= (p.Trp142=) | |
| 16 | g.74636512C>G | CA8169261 | RFWD3 | c.1260G>C (p.Trp420Cys) c.426G>C (p.Trp142Cys) | dbSNP ExAC |
| 16 | g.74636512C>T | CA396762051 | RFWD3 | c.1260G>A (p.Trp420Ter) c.426G>A (p.Trp142Ter) | |
| 16 | g.74636513C>A | CA396762053 | RFWD3 | c.1259G>T (p.Trp420Leu) c.425G>T (p.Trp142Leu) | |
| 16 | g.74636513C= | CA2232905981 | RFWD3 | c.1259G= (p.Trp420=) c.425G= (p.Trp142=) | |
| 16 | g.74636513C>G | CA396762054 | RFWD3 | c.1259G>C (p.Trp420Ser) c.425G>C (p.Trp142Ser) | |
| 16 | g.74636513C>T | CA396762056 | RFWD3 | c.1259G>A (p.Trp420Ter) c.425G>A (p.Trp142Ter) | dbSNP gnomAD v4 |
| 16 | g.74636514A= | CA2232905982 | RFWD3 | c.1258T= (p.Trp420=) c.424T= (p.Trp142=) | |
| 16 | g.74636514A>C | CA8169262 | RFWD3 | c.1258T>G (p.Trp420Gly) c.424T>G (p.Trp142Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.74636514A>G | CA396762060 | RFWD3 | c.1258T>C (p.Trp420Arg) c.424T>C (p.Trp142Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.74636514A>T | CA396762058 | RFWD3 | c.1258T>A (p.Trp420Arg) c.424T>A (p.Trp142Arg) | |
| 16 | g.74636515T>A | CA496542981 | RFWD3 | c.1257A>T (p.Ala419=) c.423A>T (p.Ala141=) | |
| 16 | g.74636515T>C | CA496542984 | RFWD3 | c.1257A>G (p.Ala419=) c.423A>G (p.Ala141=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.74636515T>G | CA496542985 | RFWD3 | c.1257A>C (p.Ala419=) c.423A>C (p.Ala141=) | dbSNP |
| 16 | g.74636515T= | CA2232905983 | RFWD3 | c.1257A= (p.Ala419=) c.423A= (p.Ala141=) | |
| 16 | g.74636516G>A | CA396762063 | RFWD3 | c.1256C>T (p.Ala419Val) c.422C>T (p.Ala141Val) | |
| 16 | g.74636516G>C | CA396762065 | RFWD3 | c.1256C>G (p.Ala419Gly) c.422C>G (p.Ala141Gly) | |
| 16 | g.74636516G>T | CA396762066 | RFWD3 | c.1256C>A (p.Ala419Glu) c.422C>A (p.Ala141Glu) | |
| 16 | g.74636517C>A | CA396762067 | RFWD3 | c.1255G>T (p.Ala419Ser) c.421G>T (p.Ala141Ser) | |
| 16 | g.74636517C= | CA2232905984 | RFWD3 | c.1255G= (p.Ala419=) c.421G= (p.Ala141=) | |
| 16 | g.74636517C>G | CA396762069 | RFWD3 | c.1255G>C (p.Ala419Pro) c.421G>C (p.Ala141Pro) | |
| 16 | g.74636517C>T | CA283745894 | RFWD3 | c.1255G>A (p.Ala419Thr) c.421G>A (p.Ala141Thr) | dbSNP |
| 16 | g.74636518T>A | CA396762071 | RFWD3 | c.1254A>T (p.Gln418His) c.420A>T (p.Gln140His) | |
| 16 | g.74636518T>C | CA8169264 | RFWD3 | c.1254A>G (p.Gln418=) c.420A>G (p.Gln140=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.74636518T>G | CA8169263 | RFWD3 | c.1254A>C (p.Gln418His) c.420A>C (p.Gln140His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.74636518T= | CA2232905985 | RFWD3 | c.1254A= (p.Gln418=) c.420A= (p.Gln140=) | |
| 16 | g.74636519T>A | CA396762073 | RFWD3 | c.1253A>T (p.Gln418Leu) c.419A>T (p.Gln140Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.74636519T>C | CA396762072 | RFWD3 | c.1253A>G (p.Gln418Arg) c.419A>G (p.Gln140Arg) | |
| 16 | g.74636519T>G | CA8169265 | RFWD3 | c.1253A>C (p.Gln418Pro) c.419A>C (p.Gln140Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.74636519T= | CA2232905986 | RFWD3 | c.1253A= (p.Gln418=) c.419A= (p.Gln140=) | |
| 16 | g.74636520G>A | CA396762076 | RFWD3 | c.1252C>T (p.Gln418Ter) c.418C>T (p.Gln140Ter) | gnomAD v4 |
| 16 | g.74636520G>C | CA396762078 | RFWD3 | c.1252C>G (p.Gln418Glu) c.418C>G (p.Gln140Glu) | |
| 16 | g.74636520G>T | CA396762080 | RFWD3 | c.1252C>A (p.Gln418Lys) c.418C>A (p.Gln140Lys) | |
| 16 | g.74636521G>A | CA8169266 | RFWD3 | c.1251C>T (p.Ser417=) c.417C>T (p.Ser139=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.74636521G>C | CA496543007 | RFWD3 | c.1251C>G (p.Ser417=) c.417C>G (p.Ser139=) | |
| 16 | g.74636521G= | CA2232905987 | RFWD3 | c.1251C= (p.Ser417=) c.417C= (p.Ser139=) | |
| 16 | g.74636521G>T | CA496543009 | RFWD3 | c.1251C>A (p.Ser417=) c.417C>A (p.Ser139=) | |
| 16 | g.74636522G>A | CA396762082 | RFWD3 | c.1250C>T (p.Ser417Phe) c.416C>T (p.Ser139Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.74636522G>C | CA396762084 | RFWD3 | c.1250C>G (p.Ser417Cys) c.416C>G (p.Ser139Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.74636522G= | CA2232905988 | RFWD3 | c.1250C= (p.Ser417=) c.416C= (p.Ser139=) | |
| 16 | g.74636522G>T | CA396762086 | RFWD3 | c.1250C>A (p.Ser417Tyr) c.416C>A (p.Ser139Tyr) | |
| 16 | g.74636523A>C | CA396762088 | RFWD3 | c.1249T>G (p.Ser417Ala) c.415T>G (p.Ser139Ala) | |
| 16 | g.74636523A>G | CA396762090 | RFWD3 | c.1249T>C (p.Ser417Pro) c.415T>C (p.Ser139Pro) | |
| 16 | g.74636523A>T | CA396762092 | RFWD3 | c.1249T>A (p.Ser417Thr) c.415T>A (p.Ser139Thr) | |
| 16 | g.74636524del | CA2634278648 | RFWD3 | c.1248del (p.Ser417ProfsTer6) c.414del (p.Ser139ProfsTer6) | gnomAD v4 |
| 16 | g.74636524G>A | CA496543023 | RFWD3 | c.1248C>T (p.Gly416=) c.414C>T (p.Gly138=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.74636524G>C | CA496543026 | RFWD3 | c.1248C>G (p.Gly416=) c.414C>G (p.Gly138=) | |
| 16 | g.74636524G= | CA2232905989 | RFWD3 | c.1248C= (p.Gly416=) c.414C= (p.Gly138=) | |
| 16 | g.74636524G>T | CA496543022 | RFWD3 | c.1248C>A (p.Gly416=) c.414C>A (p.Gly138=) | |
| 16 | g.74636525C>A | CA396762094 | RFWD3 | c.1247G>T (p.Gly416Val) c.413G>T (p.Gly138Val) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.74636525C= | CA2232905990 | RFWD3 | c.1247G= (p.Gly416=) c.413G= (p.Gly138=) | |
| 16 | g.74636525C>G | CA396762095 | RFWD3 | c.1247G>C (p.Gly416Ala) c.413G>C (p.Gly138Ala) | |
| 16 | g.74636525C>T | CA396762097 | RFWD3 | c.1247G>A (p.Gly416Asp) c.413G>A (p.Gly138Asp) | gnomAD v4 |
| 16 | g.74636528dup | CA2634278649 | RFWD3 | c.1247dup (p.Ser417LeufsTer?) c.413dup (p.Ser139LeufsTer?) | gnomAD v4 |
| 16 | g.74636526C>A | CA396762099 | RFWD3 | c.1246G>T (p.Gly416Cys) c.412G>T (p.Gly138Cys) | |
| 16 | g.74636526C>G | CA396762103 | RFWD3 | c.1246G>C (p.Gly416Arg) c.412G>C (p.Gly138Arg) | |
| 16 | g.74636526C>T | CA396762101 | RFWD3 | c.1246G>A (p.Gly416Ser) c.412G>A (p.Gly138Ser) | |
| 16 | g.74636527C>A | CA396762106 | RFWD3 | c.1245G>T (p.Arg415Ser) c.411G>T (p.Arg137Ser) | |
| 16 | g.74636527C>G | CA396762107 | RFWD3 | c.1245G>C (p.Arg415Ser) c.411G>C (p.Arg137Ser) | |
| 16 | g.74636527C>T | CA496543041 | RFWD3 | c.1245G>A (p.Arg415=) c.411G>A (p.Arg137=) | |
| 16 | g.74636528C>A | CA396762109 | RFWD3 | c.1244G>T (p.Arg415Met) c.410G>T (p.Arg137Met) | |
| 16 | g.74636528C= | CA2232905991 | RFWD3 | c.1244G= (p.Arg415=) c.410G= (p.Arg137=) | |
| 16 | g.74636528C>G | CA396762111 | RFWD3 | c.1244G>C (p.Arg415Thr) c.410G>C (p.Arg137Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.74636528C>T | CA396762113 | RFWD3 | c.1244G>A (p.Arg415Lys) c.410G>A (p.Arg137Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.74636529del | CA2634278650 | RFWD3 | c.1243del (p.Arg415GlyfsTer8) c.409del (p.Arg137GlyfsTer8) | gnomAD v4 |
| 16 | g.74636529T>A | CA396762115 | RFWD3 | c.1243A>T (p.Arg415Trp) c.409A>T (p.Arg137Trp) | |
| 16 | g.74636529T>C | CA396762116 | RFWD3 | c.1243A>G (p.Arg415Gly) c.409A>G (p.Arg137Gly) | gnomAD v4 |
| 16 | g.74636529T>G | CA496543047 | RFWD3 | c.1243A>C (p.Arg415=) c.409A>C (p.Arg137=) | |
| 16 | g.74636530G>A | CA496543051 | RFWD3 | c.1242C>T (p.Pro414=) c.408C>T (p.Pro136=) | |
| 16 | g.74636530G>C | CA496543054 | RFWD3 | c.1242C>G (p.Pro414=) c.408C>G (p.Pro136=) | |
| 16 | g.74636530G>T | CA496543053 | RFWD3 | c.1242C>A (p.Pro414=) c.408C>A (p.Pro136=) | |
| 16 | g.74636531G>A | CA8169267 | RFWD3 | c.1241C>T (p.Pro414Leu) c.407C>T (p.Pro136Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.74636531G>C | CA396762118 | RFWD3 | c.1241C>G (p.Pro414Arg) c.407C>G (p.Pro136Arg) | gnomAD v4 |
| 16 | g.74636531G= | CA2232905992 | RFWD3 | c.1241C= (p.Pro414=) c.407C= (p.Pro136=) | |
| 16 | g.74636531G>T | CA396762119 | RFWD3 | c.1241C>A (p.Pro414His) c.407C>A (p.Pro136His) | |
| 16 | g.74636532G>A | CA396762123 | RFWD3 | c.1240C>T (p.Pro414Ser) c.406C>T (p.Pro136Ser) | gnomAD v4 |
| 16 | g.74636532G>C | CA396762124 | RFWD3 | c.1240C>G (p.Pro414Ala) c.406C>G (p.Pro136Ala) | |
| 16 | g.74636532G>T | CA396762121 | RFWD3 | c.1240C>A (p.Pro414Thr) c.406C>A (p.Pro136Thr) | |
| 16 | g.74636533T>A | CA396762128 | RFWD3 | c.1239A>T (p.Gln413His) c.405A>T (p.Gln135His) | |
| 16 | g.74636533T>C | CA496543070 | RFWD3 | c.1239A>G (p.Gln413=) c.405A>G (p.Gln135=) | |
| 16 | g.74636533T>G | CA396762126 | RFWD3 | c.1239A>C (p.Gln413His) c.405A>C (p.Gln135His) | |
| 16 | g.74636534T>A | CA396762129 | RFWD3 | c.1238A>T (p.Gln413Leu) c.404A>T (p.Gln135Leu) | |
| 16 | g.74636534T>C | CA396762130 | RFWD3 | c.1238A>G (p.Gln413Arg) c.404A>G (p.Gln135Arg) | |
| 16 | g.74636534T>G | CA396762132 | RFWD3 | c.1238A>C (p.Gln413Pro) c.404A>C (p.Gln135Pro) | |
| 16 | g.74636535G>A | CA396762134 | RFWD3 | c.1237C>T (p.Gln413Ter) c.403C>T (p.Gln135Ter) | |
| 16 | g.74636535G>C | CA396762136 | RFWD3 | c.1237C>G (p.Gln413Glu) c.403C>G (p.Gln135Glu) | |
| 16 | g.74636535G= | CA2232905993 | RFWD3 | c.1237C= (p.Gln413=) c.403C= (p.Gln135=) | |
| 16 | g.74636535G>T | CA396762138 | RFWD3 | c.1237C>A (p.Gln413Lys) c.403C>A (p.Gln135Lys) | |
| 16 | g.74636536C>A | CA396762140 | RFWD3 | c.1236G>T (p.Gln412His) c.402G>T (p.Gln134His) | |
| 16 | g.74636536C= | CA2232905994 | RFWD3 | c.1236G= (p.Gln412=) c.402G= (p.Gln134=) | |
| 16 | g.74636536C>G | CA396762142 | RFWD3 | c.1236G>C (p.Gln412His) c.402G>C (p.Gln134His) | |
| 16 | g.74636536C>T | CA496543082 | RFWD3 | c.1236G>A (p.Gln412=) c.402G>A (p.Gln134=) | dbSNP gnomAD v2 |
| 16 | g.74636537T>A | CA396762145 | RFWD3 | c.1235A>T (p.Gln412Leu) c.401A>T (p.Gln134Leu) | |
| 16 | g.74636537T>C | CA396762146 | RFWD3 | c.1235A>G (p.Gln412Arg) c.401A>G (p.Gln134Arg) | |
| 16 | g.74636537T>G | CA396762148 | RFWD3 | c.1235A>C (p.Gln412Pro) c.401A>C (p.Gln134Pro) | |
| 16 | g.74636538G>A | CA396762153 | RFWD3 | c.1234C>T (p.Gln412Ter) c.400C>T (p.Gln134Ter) | gnomAD v4 |
| 16 | g.74636538G>C | CA396762151 | RFWD3 | c.1234C>G (p.Gln412Glu) c.400C>G (p.Gln134Glu) | |
| 16 | g.74636538G= | CA2232905995 | RFWD3 | c.1234C= (p.Gln412=) c.400C= (p.Gln134=) | |
| 16 | g.74636538G>T | CA8169268 | RFWD3 | c.1234C>A (p.Gln412Lys) c.400C>A (p.Gln134Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.74636539T>A | CA396762155 | RFWD3 | c.1233A>T (p.Leu411Phe) c.399A>T (p.Leu133Phe) | |
| 16 | g.74636539T>C | CA496543092 | RFWD3 | c.1233A>G (p.Leu411=) c.399A>G (p.Leu133=) | |
| 16 | g.74636539T>G | CA396762157 | RFWD3 | c.1233A>C (p.Leu411Phe) c.399A>C (p.Leu133Phe) | |
| 16 | g.74636539dup | CA2634278651 | RFWD3 | c.1233dup (p.Gln412ThrfsTer?) c.399dup (p.Gln134ThrfsTer?) | gnomAD v4 |
| 16 | g.74636540A= | CA2232905996 | RFWD3 | c.1232T= (p.Leu411=) c.398T= (p.Leu133=) | |
| 16 | g.74636540A>C | CA396762158 | RFWD3 | c.1232T>G (p.Leu411Ter) c.398T>G (p.Leu133Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.74636540A>G | CA396762159 | RFWD3 | c.1232T>C (p.Leu411Ser) c.398T>C (p.Leu133Ser) | gnomAD v4 |
| 16 | g.74636540A>T | CA396762160 | RFWD3 | c.1232T>A (p.Leu411Ter) c.398T>A (p.Leu133Ter) | |
| 16 | g.74636541A= | CA2232905997 | RFWD3 | c.1231T= (p.Leu411=) c.397T= (p.Leu133=) | |
| 16 | g.74636541A>C | CA396762161 | RFWD3 | c.1231T>G (p.Leu411Val) c.397T>G (p.Leu133Val) | dbSNP gnomAD v4 |
| 16 | g.74636541A>G | CA496543420 | RFWD3 | c.1231T>C (p.Leu411=) c.397T>C (p.Leu133=) | |
| 16 | g.74636541A>T | CA396762162 | RFWD3 | c.1231T>A (p.Leu411Ile) c.397T>A (p.Leu133Ile) | |
| 16 | g.74636542A>C | CA396762163 | RFWD3 | c.1230T>G (p.Asn410Lys) c.396T>G (p.Asn132Lys) | |
| 16 | g.74636542A>G | CA496543423 | RFWD3 | c.1230T>C (p.Asn410=) c.396T>C (p.Asn132=) | |
| 16 | g.74636542A>T | CA396762164 | RFWD3 | c.1230T>A (p.Asn410Lys) c.396T>A (p.Asn132Lys) | |
| 16 | g.74636543T>A | CA396762165 | RFWD3 | c.1229A>T (p.Asn410Ile) c.395A>T (p.Asn132Ile) | |
| 16 | g.74636543T>C | CA396762166 | RFWD3 | c.1229A>G (p.Asn410Ser) c.395A>G (p.Asn132Ser) | |
| 16 | g.74636543T>G | CA396762167 | RFWD3 | c.1229A>C (p.Asn410Thr) c.395A>C (p.Asn132Thr) | |
| 16 | g.74636544T>A | CA396762170 | RFWD3 | c.1228A>T (p.Asn410Tyr) c.394A>T (p.Asn132Tyr) | |
| 16 | g.74636544T>C | CA396762169 | RFWD3 | c.1228A>G (p.Asn410Asp) c.394A>G (p.Asn132Asp) | |
| 16 | g.74636544T>G | CA396762168 | RFWD3 | c.1228A>C (p.Asn410His) c.394A>C (p.Asn132His) | |
| 16 | g.74636545C>A | CA396762171 | RFWD3 | c.1227G>T (p.Gln409His) c.393G>T (p.Gln131His) | gnomAD v4 |
| 16 | g.74636545C>G | CA396762172 | RFWD3 | c.1227G>C (p.Gln409His) c.393G>C (p.Gln131His) | |
| 16 | g.74636545C>T | CA496543433 | RFWD3 | c.1227G>A (p.Gln409=) c.393G>A (p.Gln131=) | |
| 16 | g.74636546T>A | CA396762173 | RFWD3 | c.1226A>T (p.Gln409Leu) c.392A>T (p.Gln131Leu) | |
| 16 | g.74636546T>C | CA396762174 | RFWD3 | c.1226A>G (p.Gln409Arg) c.392A>G (p.Gln131Arg) | |
| 16 | g.74636546T>G | CA396762175 | RFWD3 | c.1226A>C (p.Gln409Pro) c.392A>C (p.Gln131Pro) | |
| 16 | g.74636547G>A | CA396762176 | RFWD3 | c.1225C>T (p.Gln409Ter) c.391C>T (p.Gln131Ter) | gnomAD v4 |
| 16 | g.74636547G>C | CA283745926 | RFWD3 | c.1225C>G (p.Gln409Glu) c.391C>G (p.Gln131Glu) | dbSNP |
| 16 | g.74636547G= | CA2232905998 | RFWD3 | c.1225C= (p.Gln409=) c.391C= (p.Gln131=) | |
| 16 | g.74636547G>T | CA396762177 | RFWD3 | c.1225C>A (p.Gln409Lys) c.391C>A (p.Gln131Lys) | gnomAD v4 |
| 16 | g.74636548A>C | CA396762178 | RFWD3 | c.1224T>G (p.Ser408Arg) c.390T>G (p.Ser130Arg) | |
| 16 | g.74636548A>G | CA496543440 | RFWD3 | c.1224T>C (p.Ser408=) c.390T>C (p.Ser130=) | |
| 16 | g.74636548A>T | CA396762179 | RFWD3 | c.1224T>A (p.Ser408Arg) c.390T>A (p.Ser130Arg) | |
| 16 | g.74636549C>A | CA396762180 | RFWD3 | c.1223G>T (p.Ser408Ile) c.389G>T (p.Ser130Ile) | gnomAD v4 |
| 16 | g.74636549C= | CA2232905999 | RFWD3 | c.1223G= (p.Ser408=) c.389G= (p.Ser130=) | |
| 16 | g.74636549C>G | CA396762181 | RFWD3 | c.1223G>C (p.Ser408Thr) c.389G>C (p.Ser130Thr) | |
| 16 | g.74636549C>T | CA8169269 | RFWD3 | c.1223G>A (p.Ser408Asn) c.389G>A (p.Ser130Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.74636550T>A | CA396762184 | RFWD3 | c.1222A>T (p.Ser408Cys) c.388A>T (p.Ser130Cys) | ClinVar |
| 16 | g.74636550T>C | CA396762182 | RFWD3 | c.1222A>G (p.Ser408Gly) c.388A>G (p.Ser130Gly) | dbSNP |
| 16 | g.74636550T>G | CA396762183 | RFWD3 | c.1222A>C (p.Ser408Arg) c.388A>C (p.Ser130Arg) | |
| 16 | g.74636550T= | CA2232906000 | RFWD3 | c.1222A= (p.Ser408=) c.388A= (p.Ser130=) | |
| 16 | g.74636551T>A | CA396762185 | RFWD3 | c.1221A>T (p.Gln407His) c.387A>T (p.Gln129His) | gnomAD v4 |
| 16 | g.74636551T>C | CA496543449 | RFWD3 | c.1221A>G (p.Gln407=) c.387A>G (p.Gln129=) | dbSNP |
| 16 | g.74636551T>G | CA396762186 | RFWD3 | c.1221A>C (p.Gln407His) c.387A>C (p.Gln129His) | |
| 16 | g.74636551T= | CA2232906001 | RFWD3 | c.1221A= (p.Gln407=) c.387A= (p.Gln129=) | |
| 16 | g.74636552T>A | CA396762187 | RFWD3 | c.1220A>T (p.Gln407Leu) c.386A>T (p.Gln129Leu) | |
| 16 | g.74636552T>C | CA8169270 | RFWD3 | c.1220A>G (p.Gln407Arg) c.386A>G (p.Gln129Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.74636552T>G | CA396762188 | RFWD3 | c.1220A>C (p.Gln407Pro) c.386A>C (p.Gln129Pro) | gnomAD v4 |
| 16 | g.74636552T= | CA2232906002 | RFWD3 | c.1220A= (p.Gln407=) c.386A= (p.Gln129=) | |
| 16 | g.74636553G>A | CA396762189 | RFWD3 | c.1219C>T (p.Gln407Ter) c.385C>T (p.Gln129Ter) | |
| 16 | g.74636553G>C | CA396762190 | RFWD3 | c.1219C>G (p.Gln407Glu) c.385C>G (p.Gln129Glu) | COSMIC |
| 16 | g.74636553G>T | CA396762191 | RFWD3 | c.1219C>A (p.Gln407Lys) c.385C>A (p.Gln129Lys) | gnomAD v4 |
| 16 | g.74636554A>C | CA396762192 | RFWD3 | c.1218T>G (p.His406Gln) c.384T>G (p.His128Gln) | |
| 16 | g.74636554A>G | CA496543462 | RFWD3 | c.1218T>C (p.His406=) c.384T>C (p.His128=) | |
| 16 | g.74636554A>T | CA396762193 | RFWD3 | c.1218T>A (p.His406Gln) c.384T>A (p.His128Gln) | |
| 16 | g.74636555T>A | CA396762194 | RFWD3 | c.1217A>T (p.His406Leu) c.383A>T (p.His128Leu) | dbSNP |
| 16 | g.74636555T>C | CA8169271 | RFWD3 | c.1217A>G (p.His406Arg) c.383A>G (p.His128Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.74636555T>G | CA396762195 | RFWD3 | c.1217A>C (p.His406Pro) c.383A>C (p.His128Pro) | |
| 16 | g.74636555T= | CA2232906003 | RFWD3 | c.1217A= (p.His406=) c.383A= (p.His128=) | |
| 16 | g.74636556G>A | CA396762197 | RFWD3 | c.1216C>T (p.His406Tyr) c.382C>T (p.His128Tyr) | |
| 16 | g.74636556G>C | CA396762198 | RFWD3 | c.1216C>G (p.His406Asp) c.382C>G (p.His128Asp) | |
| 16 | g.74636556G>T | CA396762196 | RFWD3 | c.1216C>A (p.His406Asn) c.382C>A (p.His128Asn) | |
| 16 | g.74636557T>A | CA496543471 | RFWD3 | c.1215A>T (p.Ser405=) c.381A>T (p.Ser127=) | |
| 16 | g.74636557T>C | CA496543472 | RFWD3 | c.1215A>G (p.Ser405=) c.381A>G (p.Ser127=) | |
| 16 | g.74636557T>G | CA496543474 | RFWD3 | c.1215A>C (p.Ser405=) c.381A>C (p.Ser127=) | |
| 16 | g.74636558G>A | CA396762200 | RFWD3 | c.1214C>T (p.Ser405Leu) c.380C>T (p.Ser127Leu) | |
| 16 | g.74636558G>C | CA396762199 | RFWD3 | c.1214C>G (p.Ser405Ter) c.380C>G (p.Ser127Ter) | |
| 16 | g.74636558G>T | CA396762201 | RFWD3 | c.1214C>A (p.Ser405Ter) c.380C>A (p.Ser127Ter) | |
| 16 | g.74636559A>C | CA396762202 | RFWD3 | c.1213T>G (p.Ser405Ala) c.379T>G (p.Ser127Ala) | |
| 16 | g.74636559A>G | CA396762203 | RFWD3 | c.1213T>C (p.Ser405Pro) c.379T>C (p.Ser127Pro) | gnomAD v4 |
| 16 | g.74636559A>T | CA396762204 | RFWD3 | c.1213T>A (p.Ser405Thr) c.379T>A (p.Ser127Thr) | |
| 16 | g.74636560C>A | CA496543484 | RFWD3 | c.1212G>T (p.Thr404=) c.378G>T (p.Thr126=) | |
| 16 | g.74636560C= | CA2232906004 | RFWD3 | c.1212G= (p.Thr404=) c.378G= (p.Thr126=) | |
| 16 | g.74636560C>G | CA496543485 | RFWD3 | c.1212G>C (p.Thr404=) c.378G>C (p.Thr126=) | |
| 16 | g.74636560C>T | CA8169272 | RFWD3 | c.1212G>A (p.Thr404=) c.378G>A (p.Thr126=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.74636560_74636561del | CA2634278652 | RFWD3 | c.1211_1212del (p.Thr404IlefsTer?) c.377_378del (p.Thr126IlefsTer?) | gnomAD v4 |
| 16 | g.74636561G>A | CA8169274 | RFWD3 | c.1211C>T (p.Thr404Met) c.377C>T (p.Thr126Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.74636561G>C | CA396762205 | RFWD3 | c.1211C>G (p.Thr404Arg) c.377C>G (p.Thr126Arg) | |
| 16 | g.74636561G= | CA2232906005 | RFWD3 | c.1211C= (p.Thr404=) c.377C= (p.Thr126=) | |
| 16 | g.74636561G>T | CA396762206 | RFWD3 | c.1211C>A (p.Thr404Lys) c.377C>A (p.Thr126Lys) | |
| 16 | g.74636562T>A | CA396762209 | RFWD3 | c.1210A>T (p.Thr404Ser) c.376A>T (p.Thr126Ser) | |
| 16 | g.74636562T>C | CA396762208 | RFWD3 | c.1210A>G (p.Thr404Ala) c.376A>G (p.Thr126Ala) | |
| 16 | g.74636562T>G | CA396762207 | RFWD3 | c.1210A>C (p.Thr404Pro) c.376A>C (p.Thr126Pro) | |
| 16 | g.74636562dup | CA8169273 | RFWD3 | c.1210dup (p.Thr404AsnfsTer?) c.376dup (p.Thr126AsnfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.74636563A>C | CA496543494 | RFWD3 | c.1209T>G (p.Leu403=) c.375T>G (p.Leu125=) | |
| 16 | g.74636563A>G | CA496543498 | RFWD3 | c.1209T>C (p.Leu403=) c.375T>C (p.Leu125=) | |
| 16 | g.74636563A>T | CA496543496 | RFWD3 | c.1209T>A (p.Leu403=) c.375T>A (p.Leu125=) | |
| 16 | g.74636563_74636564del | CA2634278654 | RFWD3 | c.1208_1209del (p.Leu403HisfsTer?) c.374_375del (p.Leu125HisfsTer?) | gnomAD v4 |
| 16 | g.74636564dup | CA2634278653 | RFWD3 | c.1209dup (p.Thr404TyrfsTer?) c.375dup (p.Thr126TyrfsTer?) | gnomAD v4 |
| 16 | g.74636564A= | CA2232906006 | RFWD3 | c.1208T= (p.Leu403=) c.374T= (p.Leu125=) | |
| 16 | g.74636564A>C | CA396762210 | RFWD3 | c.1208T>G (p.Leu403Arg) c.374T>G (p.Leu125Arg) | dbSNP gnomAD v4 |
| 16 | g.74636564A>G | CA396762211 | RFWD3 | c.1208T>C (p.Leu403Pro) c.374T>C (p.Leu125Pro) | |
| 16 | g.74636564A>T | CA396762212 | RFWD3 | c.1208T>A (p.Leu403His) c.374T>A (p.Leu125His) | |
| 16 | g.74636565G>A | CA396762213 | RFWD3 | c.1207C>T (p.Leu403Phe) c.373C>T (p.Leu125Phe) | |
| 16 | g.74636565G>C | CA396762214 | RFWD3 | c.1207C>G (p.Leu403Val) c.373C>G (p.Leu125Val) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.74636565G= | CA2232906007 | RFWD3 | c.1207C= (p.Leu403=) c.373C= (p.Leu125=) | |
| 16 | g.74636565G>T | CA283745948 | RFWD3 | c.1207C>A (p.Leu403Ile) c.373C>A (p.Leu125Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.74636566T>A | CA396762215 | RFWD3 | c.1206A>T (p.Lys402Asn) c.372A>T (p.Lys124Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.74636566T>C | CA496543509 | RFWD3 | c.1206A>G (p.Lys402=) c.372A>G (p.Lys124=) | gnomAD v4 |
| 16 | g.74636566T>G | CA396762216 | RFWD3 | c.1206A>C (p.Lys402Asn) c.372A>C (p.Lys124Asn) | |
| 16 | g.74636566T= | CA2232906008 | RFWD3 | c.1206A= (p.Lys402=) c.372A= (p.Lys124=) | |
| 16 | g.74636570del | CA496543512 | RFWD3 | c.1206del (p.Lys402AsnfsTer21) c.372del (p.Lys124AsnfsTer21) | |
| 16 | g.74636567T>A | CA396762217 | RFWD3 | c.1205A>T (p.Lys402Ile) c.371A>T (p.Lys124Ile) | dbSNP |
| 16 | g.74636567T>C | CA396762218 | RFWD3 | c.1205A>G (p.Lys402Arg) c.371A>G (p.Lys124Arg) | |
| 16 | g.74636567T>G | CA396762219 | RFWD3 | c.1205A>C (p.Lys402Thr) c.371A>C (p.Lys124Thr) | |
| 16 | g.74636567T= | CA2232906009 | RFWD3 | c.1205A= (p.Lys402=) c.371A= (p.Lys124=) | |
| 16 | g.74636568T>A | CA396762220 | RFWD3 | c.1204A>T (p.Lys402Ter) c.370A>T (p.Lys124Ter) | |
| 16 | g.74636568T>C | CA396762221 | RFWD3 | c.1204A>G (p.Lys402Glu) c.370A>G (p.Lys124Glu) | |
| 16 | g.74636568T>G | CA396762222 | RFWD3 | c.1204A>C (p.Lys402Gln) c.370A>C (p.Lys124Gln) | dbSNP |
| 16 | g.74636568T= | CA2232906010 | RFWD3 | c.1204A= (p.Lys402=) c.370A= (p.Lys124=) | |
| 16 | g.74636569T>A | CA396762223 | RFWD3 | c.1203A>T (p.Gln401His) c.369A>T (p.Gln123His) | |
| 16 | g.74636569T>C | CA496543523 | RFWD3 | c.1203A>G (p.Gln401=) c.369A>G (p.Gln123=) | gnomAD v4 |
| 16 | g.74636569T>G | CA396762224 | RFWD3 | c.1203A>C (p.Gln401His) c.369A>C (p.Gln123His) | |
| 16 | g.74636570T>A | CA396762227 | RFWD3 | c.1202A>T (p.Gln401Leu) c.368A>T (p.Gln123Leu) | |
| 16 | g.74636570T>C | CA396762226 | RFWD3 | c.1202A>G (p.Gln401Arg) c.368A>G (p.Gln123Arg) | |
| 16 | g.74636570T>G | CA396762225 | RFWD3 | c.1202A>C (p.Gln401Pro) c.368A>C (p.Gln123Pro) |