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 |
|---|---|---|---|---|---|
| X | g.149482864_149482874del | CA2694908955 | IDS | c.1525_1535del (p.Glu509Ter) c.892_902del (p.Glu298Ter) c.1255_1265del (p.Glu419Ter) | gnomAD v4 |
| X | g.149482865C>A | CA414517878 | IDS | c.1534G>T (p.Ala512Ser) c.901G>T (p.Ala301Ser) c.1264G>T (p.Ala422Ser) | |
| X | g.149482865C>G | CA414517879 | IDS | c.1534G>C (p.Ala512Pro) c.901G>C (p.Ala301Pro) c.1264G>C (p.Ala422Pro) | gnomAD v4 |
| X | g.149482865C>T | CA414517880 | IDS | c.1534G>A (p.Ala512Thr) c.901G>A (p.Ala301Thr) c.1264G>A (p.Ala422Thr) | gnomAD v4 |
| X | g.149482866T>A | CA519057434 | IDS | c.1533A>T (p.Leu511=) c.900A>T (p.Leu300=) c.1263A>T (p.Leu421=) | |
| X | g.149482866T>C | CA519057435 | IDS | c.1533A>G (p.Leu511=) c.900A>G (p.Leu300=) c.1263A>G (p.Leu421=) | |
| X | g.149482866T>G | CA519057436 | IDS | c.1533A>C (p.Leu511=) c.900A>C (p.Leu300=) c.1263A>C (p.Leu421=) | |
| X | g.149482867A>C | CA414517881 | IDS | c.1532T>G (p.Leu511Arg) c.899T>G (p.Leu300Arg) c.1262T>G (p.Leu421Arg) | |
| X | g.149482867A>G | CA414517882 | IDS | c.1532T>C (p.Leu511Pro) c.899T>C (p.Leu300Pro) c.1262T>C (p.Leu421Pro) | |
| X | g.149482867A>T | CA414517883 | IDS | c.1532T>A (p.Leu511Gln) c.899T>A (p.Leu300Gln) c.1262T>A (p.Leu421Gln) | |
| X | g.149482868G>A | CA10537436 | IDS | c.1531C>T (p.Leu511=) c.898C>T (p.Leu300=) c.1261C>T (p.Leu421=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149482868G>C | CA414517884 | IDS | c.1531C>G (p.Leu511Val) c.898C>G (p.Leu300Val) c.1261C>G (p.Leu421Val) | |
| X | g.149482868G= | CA2465003957 | IDS | c.1531C= (p.Leu511=) c.898C= (p.Leu300=) c.1261C= (p.Leu421=) | |
| X | g.149482868G>T | CA414517885 | IDS | c.1531C>A (p.Leu511Ile) c.898C>A (p.Leu300Ile) c.1261C>A (p.Leu421Ile) | |
| X | g.149482869A>C | CA414517886 | IDS | c.1530T>G (p.Phe510Leu) c.897T>G (p.Phe299Leu) c.1260T>G (p.Phe420Leu) | |
| X | g.149482869A>G | CA519057439 | IDS | c.1530T>C (p.Phe510=) c.897T>C (p.Phe299=) c.1260T>C (p.Phe420=) | |
| X | g.149482869A>T | CA414517887 | IDS | c.1530T>A (p.Phe510Leu) c.897T>A (p.Phe299Leu) c.1260T>A (p.Phe420Leu) | |
| X | g.149482870A>C | CA414517890 | IDS | c.1529T>G (p.Phe510Cys) c.896T>G (p.Phe299Cys) c.1259T>G (p.Phe420Cys) | |
| X | g.149482870A>G | CA414517889 | IDS | c.1529T>C (p.Phe510Ser) c.896T>C (p.Phe299Ser) c.1259T>C (p.Phe420Ser) | |
| X | g.149482870A>T | CA414517888 | IDS | c.1529T>A (p.Phe510Tyr) c.896T>A (p.Phe299Tyr) c.1259T>A (p.Phe420Tyr) | |
| X | g.149482871A>C | CA414517891 | IDS | c.1528T>G (p.Phe510Val) c.895T>G (p.Phe299Val) c.1258T>G (p.Phe420Val) | |
| X | g.149482871A>G | CA414517892 | IDS | c.1528T>C (p.Phe510Leu) c.895T>C (p.Phe299Leu) c.1258T>C (p.Phe420Leu) | |
| X | g.149482871A>T | CA414517893 | IDS | c.1528T>A (p.Phe510Ile) c.895T>A (p.Phe299Ile) c.1258T>A (p.Phe420Ile) | |
| X | g.149482872T>A | CA414517894 | IDS | c.1527A>T (p.Glu509Asp) c.894A>T (p.Glu298Asp) c.1257A>T (p.Glu419Asp) | |
| X | g.149482872T>C | CA519057440 | IDS | c.1527A>G (p.Glu509=) c.894A>G (p.Glu298=) c.1257A>G (p.Glu419=) | dbSNP gnomAD v4 |
| X | g.149482872T>G | CA414517895 | IDS | c.1527A>C (p.Glu509Asp) c.894A>C (p.Glu298Asp) c.1257A>C (p.Glu419Asp) | |
| X | g.149482872T= | CA2465003958 | IDS | c.1527A= (p.Glu509=) c.894A= (p.Glu298=) c.1257A= (p.Glu419=) | |
| X | g.149482873T>A | CA414517896 | IDS | c.1526A>T (p.Glu509Val) c.893A>T (p.Glu298Val) c.1256A>T (p.Glu419Val) | |
| X | g.149482873T>C | CA414517897 | IDS | c.1526A>G (p.Glu509Gly) c.893A>G (p.Glu298Gly) c.1256A>G (p.Glu419Gly) | |
| X | g.149482873T>G | CA414517898 | IDS | c.1526A>C (p.Glu509Ala) c.893A>C (p.Glu298Ala) c.1256A>C (p.Glu419Ala) | |
| X | g.149482874C>A | CA414517899 | IDS | c.1525G>T (p.Glu509Ter) c.892G>T (p.Glu298Ter) c.1255G>T (p.Glu419Ter) | |
| X | g.149482874C>G | CA414517900 | IDS | c.1525G>C (p.Glu509Gln) c.892G>C (p.Glu298Gln) c.1255G>C (p.Glu419Gln) | |
| X | g.149482874C>T | CA414517901 | IDS | c.1525G>A (p.Glu509Lys) c.892G>A (p.Glu298Lys) c.1255G>A (p.Glu419Lys) | COSMIC |
| X | g.149482875A>C | CA414517902 | IDS | c.1524T>G (p.Asp508Glu) c.891T>G (p.Asp297Glu) c.1254T>G (p.Asp418Glu) | |
| X | g.149482875A>G | CA519057441 | IDS | c.1524T>C (p.Asp508=) c.891T>C (p.Asp297=) c.1254T>C (p.Asp418=) | |
| X | g.149482875A>T | CA414517903 | IDS | c.1524T>A (p.Asp508Glu) c.891T>A (p.Asp297Glu) c.1254T>A (p.Asp418Glu) | |
| X | g.149482876T>A | CA414517905 | IDS | c.1523A>T (p.Asp508Val) c.890A>T (p.Asp297Val) c.1253A>T (p.Asp418Val) | |
| X | g.149482876T>C | CA414517906 | IDS | c.1523A>G (p.Asp508Gly) c.890A>G (p.Asp297Gly) c.1253A>G (p.Asp418Gly) | |
| X | g.149482876T>G | CA414517904 | IDS | c.1523A>C (p.Asp508Ala) c.890A>C (p.Asp297Ala) c.1253A>C (p.Asp418Ala) | |
| X | g.149482877C>A | CA414517909 | IDS | c.1522G>T (p.Asp508Tyr) c.889G>T (p.Asp297Tyr) c.1252G>T (p.Asp418Tyr) | |
| X | g.149482877C>G | CA414517907 | IDS | c.1522G>C (p.Asp508His) c.889G>C (p.Asp297His) c.1252G>C (p.Asp418His) | |
| X | g.149482877C>T | CA414517908 | IDS | c.1522G>A (p.Asp508Asn) c.889G>A (p.Asp297Asn) c.1252G>A (p.Asp418Asn) | |
| X | g.149482878A>C | CA519057442 | IDS | c.1521T>G (p.Pro507=) c.888T>G (p.Pro296=) c.1251T>G (p.Pro417=) | |
| X | g.149482878A>G | CA519057443 | IDS | c.1521T>C (p.Pro507=) c.888T>C (p.Pro296=) c.1251T>C (p.Pro417=) | |
| X | g.149482878A>T | CA519057444 | IDS | c.1521T>A (p.Pro507=) c.888T>A (p.Pro296=) c.1251T>A (p.Pro417=) | |
| X | g.149482879G>A | CA414517910 | IDS | c.1520C>T (p.Pro507Leu) c.887C>T (p.Pro296Leu) c.1250C>T (p.Pro417Leu) | |
| X | g.149482879G>C | CA414517911 | IDS | c.1520C>G (p.Pro507Arg) c.887C>G (p.Pro296Arg) c.1250C>G (p.Pro417Arg) | |
| X | g.149482879G>T | CA414517912 | IDS | c.1520C>A (p.Pro507His) c.887C>A (p.Pro296His) c.1250C>A (p.Pro417His) | |
| X | g.149482880G>A | CA414517913 | IDS | c.1519C>T (p.Pro507Ser) c.886C>T (p.Pro296Ser) c.1249C>T (p.Pro417Ser) | |
| X | g.149482880G>C | CA414517914 | IDS | c.1519C>G (p.Pro507Ala) c.886C>G (p.Pro296Ala) c.1249C>G (p.Pro417Ala) | |
| X | g.149482880G>T | CA414517915 | IDS | c.1519C>A (p.Pro507Thr) c.886C>A (p.Pro296Thr) c.1249C>A (p.Pro417Thr) | |
| X | g.149482881A>C | CA414517916 | IDS | c.1518T>G (p.Asn506Lys) c.885T>G (p.Asn295Lys) c.1248T>G (p.Asn416Lys) | |
| X | g.149482881A>G | CA519057445 | IDS | c.1518T>C (p.Asn506=) c.885T>C (p.Asn295=) c.1248T>C (p.Asn416=) | |
| X | g.149482881A>T | CA414517917 | IDS | c.1518T>A (p.Asn506Lys) c.885T>A (p.Asn295Lys) c.1248T>A (p.Asn416Lys) | |
| X | g.149482882T>A | CA414517918 | IDS | c.1517A>T (p.Asn506Ile) c.884A>T (p.Asn295Ile) c.1247A>T (p.Asn416Ile) | |
| X | g.149482882T>C | CA414517919 | IDS | c.1517A>G (p.Asn506Ser) c.884A>G (p.Asn295Ser) c.1247A>G (p.Asn416Ser) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.149482882T>G | CA414517920 | IDS | c.1517A>C (p.Asn506Thr) c.884A>C (p.Asn295Thr) c.1247A>C (p.Asn416Thr) | |
| X | g.149482882T= | CA2465003959 | IDS | c.1517A= (p.Asn506=) c.884A= (p.Asn295=) c.1247A= (p.Asn416=) | |
| X | g.149482882_149482883insGGGC | CA2514271857 | IDS | c.1516_1517insGCCC (p.Asn506SerfsTer4) c.883_884insGCCC (p.Asn295SerfsTer4) c.1246_1247insGCCC (p.Asn416SerfsTer4) | |
| X | g.149482883T>A | CA414517921 | IDS | c.1516A>T (p.Asn506Tyr) c.883A>T (p.Asn295Tyr) c.1246A>T (p.Asn416Tyr) | |
| X | g.149482883T>C | CA414517923 | IDS | c.1516A>G (p.Asn506Asp) c.883A>G (p.Asn295Asp) c.1246A>G (p.Asn416Asp) | |
| X | g.149482883T>G | CA414517922 | IDS | c.1516A>C (p.Asn506His) c.883A>C (p.Asn295His) c.1246A>C (p.Asn416His) | |
| X | g.149482884G>A | CA519057446 | IDS | c.1515C>T (p.Phe505=) c.882C>T (p.Phe294=) c.1245C>T (p.Phe415=) | COSMIC |
| X | g.149482884G>C | CA414517924 | IDS | c.1515C>G (p.Phe505Leu) c.882C>G (p.Phe294Leu) c.1245C>G (p.Phe415Leu) | |
| X | g.149482884G>T | CA414517925 | IDS | c.1515C>A (p.Phe505Leu) c.882C>A (p.Phe294Leu) c.1245C>A (p.Phe415Leu) | |
| X | g.149482885A>C | CA414517926 | IDS | c.1514T>G (p.Phe505Cys) c.881T>G (p.Phe294Cys) c.1244T>G (p.Phe415Cys) | |
| X | g.149482885A>G | CA414517927 | IDS | c.1514T>C (p.Phe505Ser) c.881T>C (p.Phe294Ser) c.1244T>C (p.Phe415Ser) | |
| X | g.149482885A>T | CA414517928 | IDS | c.1514T>A (p.Phe505Tyr) c.881T>A (p.Phe294Tyr) c.1244T>A (p.Phe415Tyr) | |
| X | g.149482886A>C | CA414517929 | IDS | c.1513T>G (p.Phe505Val) c.880T>G (p.Phe294Val) c.1243T>G (p.Phe415Val) | |
| X | g.149482886A>G | CA414517930 | IDS | c.1513T>C (p.Phe505Leu) c.880T>C (p.Phe294Leu) c.1243T>C (p.Phe415Leu) | |
| X | g.149482886A>T | CA414517931 | IDS | c.1513T>A (p.Phe505Ile) c.880T>A (p.Phe294Ile) c.1243T>A (p.Phe415Ile) | |
| X | g.149482887G>A | CA519057447 | IDS | c.1512C>T (p.Gly504=) c.879C>T (p.Gly293=) c.1242C>T (p.Gly414=) | |
| X | g.149482887G>C | CA519057448 | IDS | c.1512C>G (p.Gly504=) c.879C>G (p.Gly293=) c.1242C>G (p.Gly414=) | |
| X | g.149482887G>T | CA519057449 | IDS | c.1512C>A (p.Gly504=) c.879C>A (p.Gly293=) c.1242C>A (p.Gly414=) | |
| X | g.149482888C>A | CA414517932 | IDS | c.1511G>T (p.Gly504Val) c.878G>T (p.Gly293Val) c.1241G>T (p.Gly414Val) | |
| X | g.149482888C= | CA2465003960 | IDS | c.1511G= (p.Gly504=) c.878G= (p.Gly293=) c.1241G= (p.Gly414=) | |
| X | g.149482888C>G | CA414517933 | IDS | c.1511G>C (p.Gly504Ala) c.878G>C (p.Gly293Ala) c.1241G>C (p.Gly414Ala) | |
| X | g.149482888C>T | CA414517934 | IDS | c.1511G>A (p.Gly504Asp) c.878G>A (p.Gly293Asp) c.1241G>A (p.Gly414Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149482889del | CA2695236481 | IDS | c.1511del (p.Gly504AlafsTer8) c.878del (p.Gly293AlafsTer8) c.1241del (p.Gly414AlafsTer8) | |
| X | g.149482889C>A | CA414517936 | IDS | c.1510G>T (p.Gly504Cys) c.877G>T (p.Gly293Cys) c.1240G>T (p.Gly414Cys) | |
| X | g.149482889C>G | CA414517937 | IDS | c.1510G>C (p.Gly504Arg) c.877G>C (p.Gly293Arg) c.1240G>C (p.Gly414Arg) | |
| X | g.149482889C>T | CA414517935 | IDS | c.1510G>A (p.Gly504Ser) c.877G>A (p.Gly293Ser) c.1240G>A (p.Gly414Ser) | |
| X | g.149482890A>C | CA519057450 | IDS | c.1509T>G (p.Val503=) c.876T>G (p.Val292=) c.1239T>G (p.Val413=) | |
| X | g.149482890A>G | CA519057452 | IDS | c.1509T>C (p.Val503=) c.876T>C (p.Val292=) c.1239T>C (p.Val413=) | |
| X | g.149482890A>T | CA519057451 | IDS | c.1509T>A (p.Val503=) c.876T>A (p.Val292=) c.1239T>A (p.Val413=) | |
| X | g.149482891del | CA2695236482 | IDS | c.1509del (p.Gly504AlafsTer8) c.876del (p.Gly293AlafsTer8) c.1239del (p.Gly414AlafsTer8) | |
| X | g.149482891A= | CA2465003961 | IDS | c.1508T= (p.Val503=) c.875T= (p.Val292=) c.1238T= (p.Val413=) | |
| X | g.149482891A>C | CA414517938 | IDS | c.1508T>G (p.Val503Gly) c.875T>G (p.Val292Gly) c.1238T>G (p.Val413Gly) | |
| X | g.149482891A>G | CA414517939 | IDS | c.1508T>C (p.Val503Ala) c.875T>C (p.Val292Ala) c.1238T>C (p.Val413Ala) | |
| X | g.149482891A>T | CA220492 | IDS | c.1508T>A (p.Val503Asp) c.875T>A (p.Val292Asp) c.1238T>A (p.Val413Asp) | ClinVar dbSNP |
| X | g.149482892C>A | CA337035522 | IDS | c.1507G>T (p.Val503Phe) c.874G>T (p.Val292Phe) c.1237G>T (p.Val413Phe) | dbSNP gnomAD v4 |
| X | g.149482892C= | CA2465003962 | IDS | c.1507G= (p.Val503=) c.874G= (p.Val292=) c.1237G= (p.Val413=) | |
| X | g.149482892C>G | CA414517940 | IDS | c.1507G>C (p.Val503Leu) c.874G>C (p.Val292Leu) c.1237G>C (p.Val413Leu) | |
| X | g.149482892C>T | CA414517941 | IDS | c.1507G>A (p.Val503Ile) c.874G>A (p.Val292Ile) c.1237G>A (p.Val413Ile) | |
| X | g.149482892_149482893insACA | CA2824136036 | IDS | c.1506_1507insTGT (p.Trp502_Val503insCys) c.873_874insTGT (p.Trp291_Val292insCys) c.1236_1237insTGT (p.Trp412_Val413insCys) | |
| X | g.149482893C>A | CA414517942 | IDS | c.1506G>T (p.Trp502Cys) c.873G>T (p.Trp291Cys) c.1236G>T (p.Trp412Cys) | ClinVar dbSNP |
| X | g.149482893C>G | CA414517943 | IDS | c.1506G>C (p.Trp502Cys) c.873G>C (p.Trp291Cys) c.1236G>C (p.Trp412Cys) | |
| X | g.149482893C>T | CA414517944 | IDS | c.1506G>A (p.Trp502Ter) c.873G>A (p.Trp291Ter) c.1236G>A (p.Trp412Ter) | ClinVar |
| X | g.149482894C>A | CA414517945 | IDS | c.1505G>T (p.Trp502Leu) c.872G>T (p.Trp291Leu) c.1235G>T (p.Trp412Leu) | |
| X | g.149482894C= | CA2465003963 | IDS | c.1505G= (p.Trp502=) c.872G= (p.Trp291=) c.1235G= (p.Trp412=) | |
| X | g.149482894C>G | CA255270 | IDS | c.1505G>C (p.Trp502Ser) c.872G>C (p.Trp291Ser) c.1235G>C (p.Trp412Ser) | ClinVar dbSNP |
| X | g.149482894C>T | CA414517946 | IDS | c.1505G>A (p.Trp502Ter) c.872G>A (p.Trp291Ter) c.1235G>A (p.Trp412Ter) | ClinVar dbSNP |
| X | g.149482894_149482895insCA | CA2824136038 | IDS | c.1504_1505insTG (p.Trp502LeufsTer11) c.871_872insTG (p.Trp291LeufsTer11) c.1234_1235insTG (p.Trp412LeufsTer11) | |
| X | g.149482895A= | CA2465003964 | IDS | c.1504T= (p.Trp502=) c.871T= (p.Trp291=) c.1234T= (p.Trp412=) | |
| X | g.149482895A>C | CA414517948 | IDS | c.1504T>G (p.Trp502Gly) c.871T>G (p.Trp291Gly) c.1234T>G (p.Trp412Gly) | ClinVar dbSNP |
| X | g.149482895A>G | CA414517949 | IDS | c.1504T>C (p.Trp502Arg) c.871T>C (p.Trp291Arg) c.1234T>C (p.Trp412Arg) | |
| X | g.149482895A>T | CA414517947 | IDS | c.1504T>A (p.Trp502Arg) c.871T>A (p.Trp291Arg) c.1234T>A (p.Trp412Arg) | ClinVar |
| X | g.149482895_149482896insAACACACCCAA | CA2824136037 | IDS | c.1504_1505insTGGGTGTGTTT (p.Trp502LeufsTer14) c.871_872insTGGGTGTGTTT (p.Trp291LeufsTer14) c.1234_1235insTGGGTGTGTTT (p.Trp412LeufsTer14) | |
| X | g.149482896C>A | CA519057453 | IDS | c.1503G>T (p.Val501=) c.870G>T (p.Val290=) c.1233G>T (p.Val411=) | |
| X | g.149482896C>G | CA519057454 | IDS | c.1503G>C (p.Val501=) c.870G>C (p.Val290=) c.1233G>C (p.Val411=) | ClinVar |
| X | g.149482896C>T | CA519057455 | IDS | c.1503G>A (p.Val501=) c.870G>A (p.Val290=) c.1233G>A (p.Val411=) | gnomAD v4 |
| X | g.149482897A>C | CA414517950 | IDS | c.1502T>G (p.Val501Gly) c.869T>G (p.Val290Gly) c.1232T>G (p.Val411Gly) | |
| X | g.149482897A>G | CA414517951 | IDS | c.1502T>C (p.Val501Ala) c.869T>C (p.Val290Ala) c.1232T>C (p.Val411Ala) | gnomAD v4 |
| X | g.149482897A>T | CA414517952 | IDS | c.1502T>A (p.Val501Glu) c.869T>A (p.Val290Glu) c.1232T>A (p.Val411Glu) | |
| X | g.149482898C>A | CA414517953 | IDS | c.1501G>T (p.Val501Leu) c.868G>T (p.Val290Leu) c.1231G>T (p.Val411Leu) | |
| X | g.149482898C>G | CA414517954 | IDS | c.1501G>C (p.Val501Leu) c.868G>C (p.Val290Leu) c.1231G>C (p.Val411Leu) | |
| X | g.149482898C>T | CA414517955 | IDS | c.1501G>A (p.Val501Met) c.868G>A (p.Val290Met) c.1231G>A (p.Val411Met) | gnomAD v4 |
| X | g.149482899A= | CA2465003965 | IDS | c.1500T= (p.Thr500=) c.867T= (p.Thr289=) c.1230T= (p.Thr410=) | |
| X | g.149482899A>C | CA519057456 | IDS | c.1500T>G (p.Thr500=) c.867T>G (p.Thr289=) c.1230T>G (p.Thr410=) | |
| X | g.149482899A>G | CA519057457 | IDS | c.1500T>C (p.Thr500=) c.867T>C (p.Thr289=) c.1230T>C (p.Thr410=) | ClinVar dbSNP gnomAD v4 |
| X | g.149482899A>T | CA519057458 | IDS | c.1500T>A (p.Thr500=) c.867T>A (p.Thr289=) c.1230T>A (p.Thr410=) | ClinVar |
| X | g.149482900G>A | CA10537437 | IDS | c.1499C>T (p.Thr500Ile) c.866C>T (p.Thr289Ile) c.1229C>T (p.Thr410Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149482900G>C | CA414517956 | IDS | c.1499C>G (p.Thr500Ser) c.866C>G (p.Thr289Ser) c.1229C>G (p.Thr410Ser) | |
| X | g.149482900G= | CA2465003966 | IDS | c.1499C= (p.Thr500=) c.866C= (p.Thr289=) c.1229C= (p.Thr410=) | |
| X | g.149482900G>T | CA414517957 | IDS | c.1499C>A (p.Thr500Asn) c.866C>A (p.Thr289Asn) c.1229C>A (p.Thr410Asn) | |
| X | g.149482901T>A | CA414517958 | IDS | c.1498A>T (p.Thr500Ser) c.865A>T (p.Thr289Ser) c.1228A>T (p.Thr410Ser) | |
| X | g.149482901T>C | CA414517959 | IDS | c.1498A>G (p.Thr500Ala) c.865A>G (p.Thr289Ala) c.1228A>G (p.Thr410Ala) | ClinVar |
| X | g.149482901T>G | CA414517960 | IDS | c.1498A>C (p.Thr500Pro) c.865A>C (p.Thr289Pro) c.1228A>C (p.Thr410Pro) | |
| X | g.149482902A= | CA2465003967 | IDS | c.1497T= (p.Tyr499=) c.864T= (p.Tyr288=) c.1227T= (p.Tyr409=) | |
| X | g.149482902A>C | CA414517961 | IDS | c.1497T>G (p.Tyr499Ter) c.864T>G (p.Tyr288Ter) c.1227T>G (p.Tyr409Ter) | ClinVar dbSNP |
| X | g.149482902A>G | CA519057459 | IDS | c.1497T>C (p.Tyr499=) c.864T>C (p.Tyr288=) c.1227T>C (p.Tyr409=) | |
| X | g.149482902A>T | CA414517962 | IDS | c.1497T>A (p.Tyr499Ter) c.864T>A (p.Tyr288Ter) c.1227T>A (p.Tyr409Ter) | |
| X | g.149482903T>A | CA414517964 | IDS | c.1496A>T (p.Tyr499Phe) c.863A>T (p.Tyr288Phe) c.1226A>T (p.Tyr409Phe) | |
| X | g.149482903T>C | CA337035523 | IDS | c.1496A>G (p.Tyr499Cys) c.863A>G (p.Tyr288Cys) c.1226A>G (p.Tyr409Cys) | dbSNP gnomAD v4 |
| X | g.149482903T>G | CA414517963 | IDS | c.1496A>C (p.Tyr499Ser) c.863A>C (p.Tyr288Ser) c.1226A>C (p.Tyr409Ser) | |
| X | g.149482903T= | CA2465003968 | IDS | c.1496A= (p.Tyr499=) c.863A= (p.Tyr288=) c.1226A= (p.Tyr409=) | |
| X | g.149482904A>C | CA414517965 | IDS | c.1495T>G (p.Tyr499Asp) c.862T>G (p.Tyr288Asp) c.1225T>G (p.Tyr409Asp) | |
| X | g.149482904A>G | CA414517967 | IDS | c.1495T>C (p.Tyr499His) c.862T>C (p.Tyr288His) c.1225T>C (p.Tyr409His) | |
| X | g.149482904A>T | CA414517966 | IDS | c.1495T>A (p.Tyr499Asn) c.862T>A (p.Tyr288Asn) c.1225T>A (p.Tyr409Asn) | |
| X | g.149482905C>A | CA414517968 | IDS | c.1494G>T (p.Arg498Ser) c.861G>T (p.Arg287Ser) c.1224G>T (p.Arg408Ser) | dbSNP |
| X | g.149482905C= | CA2465003969 | IDS | c.1494G= (p.Arg498=) c.861G= (p.Arg287=) c.1224G= (p.Arg408=) | |
| X | g.149482905C>G | CA414517969 | IDS | c.1494G>C (p.Arg498Ser) c.861G>C (p.Arg287Ser) c.1224G>C (p.Arg408Ser) | |
| X | g.149482905C>T | CA519057460 | IDS | c.1494G>A (p.Arg498=) c.861G>A (p.Arg287=) c.1224G>A (p.Arg408=) | |
| X | g.149482906del | CA2580101606 | IDS | c.1494del (p.Arg498SerfsTer14) c.861del (p.Arg287SerfsTer14) c.1224del (p.Arg408SerfsTer14) | ClinVar |
| X | g.149482906C>A | CA414517970 | IDS | c.1493G>T (p.Arg498Met) c.860G>T (p.Arg287Met) c.1223G>T (p.Arg408Met) | |
| X | g.149482906C= | CA2465003970 | IDS | c.1493G= (p.Arg498=) c.860G= (p.Arg287=) c.1223G= (p.Arg408=) | |
| X | g.149482906C>G | CA414517971 | IDS | c.1493G>C (p.Arg498Thr) c.860G>C (p.Arg287Thr) c.1223G>C (p.Arg408Thr) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.149482906C>T | CA414517972 | IDS | c.1493G>A (p.Arg498Lys) c.860G>A (p.Arg287Lys) c.1223G>A (p.Arg408Lys) | gnomAD v4 |
| X | g.149482907T>A | CA414517973 | IDS | c.1492A>T (p.Arg498Trp) c.859A>T (p.Arg287Trp) c.1222A>T (p.Arg408Trp) | |
| X | g.149482907T>C | CA414517974 | IDS | c.1492A>G (p.Arg498Gly) c.859A>G (p.Arg287Gly) c.1222A>G (p.Arg408Gly) | |
| X | g.149482907T>G | CA519057461 | IDS | c.1492A>C (p.Arg498=) c.859A>C (p.Arg287=) c.1222A>C (p.Arg408=) | |
| X | g.149482909_149482910dup | CA2465003971 | IDS | c.1491_1492dup (p.Arg498IlefsTer15) c.858_859dup (p.Arg287IlefsTer15) c.1221_1222dup (p.Arg408IlefsTer15) | ClinVar dbSNP |
| X | g.149482908A>C | CA414517975 | IDS | c.1491T>G (p.Tyr497Ter) c.858T>G (p.Tyr286Ter) c.1221T>G (p.Tyr407Ter) | |
| X | g.149482908A>G | CA519057462 | IDS | c.1491T>C (p.Tyr497=) c.858T>C (p.Tyr286=) c.1221T>C (p.Tyr407=) | gnomAD v4 |
| X | g.149482908A>T | CA414517976 | IDS | c.1491T>A (p.Tyr497Ter) c.858T>A (p.Tyr286Ter) c.1221T>A (p.Tyr407Ter) | |
| X | g.149482909T>A | CA414517977 | IDS | c.1490A>T (p.Tyr497Phe) c.857A>T (p.Tyr286Phe) c.1220A>T (p.Tyr407Phe) | |
| X | g.149482909T>C | CA10537438 | IDS | c.1490A>G (p.Tyr497Cys) c.857A>G (p.Tyr286Cys) c.1220A>G (p.Tyr407Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149482909T>G | CA414517978 | IDS | c.1490A>C (p.Tyr497Ser) c.857A>C (p.Tyr286Ser) c.1220A>C (p.Tyr407Ser) | |
| X | g.149482909T= | CA2465003972 | IDS | c.1490A= (p.Tyr497=) c.857A= (p.Tyr286=) c.1220A= (p.Tyr407=) | |
| X | g.149482910A= | CA2465003973 | IDS | c.1489T= (p.Tyr497=) c.856T= (p.Tyr286=) c.1219T= (p.Tyr407=) | |
| X | g.149482910A>C | CA414517979 | IDS | c.1489T>G (p.Tyr497Asp) c.856T>G (p.Tyr286Asp) c.1219T>G (p.Tyr407Asp) | |
| X | g.149482910A>G | CA414517980 | IDS | c.1489T>C (p.Tyr497His) c.856T>C (p.Tyr286His) c.1219T>C (p.Tyr407His) | |
| X | g.149482910A>T | CA337035524 | IDS | c.1489T>A (p.Tyr497Asn) c.856T>A (p.Tyr286Asn) c.1219T>A (p.Tyr407Asn) | dbSNP |
| X | g.149482910dup | CA2695236483 | IDS | c.1489dup (p.Tyr497LeufsTer2) c.856dup (p.Tyr286LeufsTer2) c.1219dup (p.Tyr407LeufsTer2) | |
| X | g.149482911G>A | CA519057463 | IDS | c.1488C>T (p.Asp496=) c.855C>T (p.Asp285=) c.1218C>T (p.Asp406=) | |
| X | g.149482911G>C | CA414517981 | IDS | c.1488C>G (p.Asp496Glu) c.855C>G (p.Asp285Glu) c.1218C>G (p.Asp406Glu) | |
| X | g.149482911G>T | CA414517982 | IDS | c.1488C>A (p.Asp496Glu) c.855C>A (p.Asp285Glu) c.1218C>A (p.Asp406Glu) | |
| X | g.149482913_149482919del | CA2695236484 | IDS | c.1482_1488del (p.Asp496GlyfsTer14) c.849_855del (p.Asp285GlyfsTer14) c.1212_1218del (p.Asp406GlyfsTer14) | |
| X | g.149482912T>A | CA414517983 | IDS | c.1487A>T (p.Asp496Val) c.854A>T (p.Asp285Val) c.1217A>T (p.Asp406Val) | |
| X | g.149482912T>C | CA414517984 | IDS | c.1487A>G (p.Asp496Gly) c.854A>G (p.Asp285Gly) c.1217A>G (p.Asp406Gly) | |
| X | g.149482912T>G | CA414517985 | IDS | c.1487A>C (p.Asp496Ala) c.854A>C (p.Asp285Ala) c.1217A>C (p.Asp406Ala) | |
| X | g.149482913C>A | CA414517986 | IDS | c.1486G>T (p.Asp496Tyr) c.853G>T (p.Asp285Tyr) c.1216G>T (p.Asp406Tyr) | |
| X | g.149482913C>G | CA414517987 | IDS | c.1486G>C (p.Asp496His) c.853G>C (p.Asp285His) c.1216G>C (p.Asp406His) | |
| X | g.149482913C>T | CA414517988 | IDS | c.1486G>A (p.Asp496Asn) c.853G>A (p.Asp285Asn) c.1216G>A (p.Asp406Asn) | gnomAD v4 |
| X | g.149482914T>A | CA519057464 | IDS | c.1485A>T (p.Ile495=) c.852A>T (p.Ile284=) c.1215A>T (p.Ile405=) | |
| X | g.149482914T>C | CA414517989 | IDS | c.1485A>G (p.Ile495Met) c.852A>G (p.Ile284Met) c.1215A>G (p.Ile405Met) | COSMIC |
| X | g.149482914T>G | CA519057465 | IDS | c.1485A>C (p.Ile495=) c.852A>C (p.Ile284=) c.1215A>C (p.Ile405=) | |
| X | g.149482914_149482915insTA | CA2695236485 | IDS | c.1484_1485insTA (p.Asp496LysfsTer17) c.851_852insTA (p.Asp285LysfsTer17) c.1214_1215insTA (p.Asp406LysfsTer17) | |
| X | g.149482915A= | CA2465003974 | IDS | c.1484T= (p.Ile495=) c.851T= (p.Ile284=) c.1214T= (p.Ile405=) | |
| X | g.149482915A>C | CA414517990 | IDS | c.1484T>G (p.Ile495Arg) c.851T>G (p.Ile284Arg) c.1214T>G (p.Ile405Arg) | |
| X | g.149482915A>G | CA414517991 | IDS | c.1484T>C (p.Ile495Thr) c.851T>C (p.Ile284Thr) c.1214T>C (p.Ile405Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149482915A>T | CA414517992 | IDS | c.1484T>A (p.Ile495Lys) c.851T>A (p.Ile284Lys) c.1214T>A (p.Ile405Lys) | |
| X | g.149482916T>A | CA414517994 | IDS | c.1483A>T (p.Ile495Leu) c.850A>T (p.Ile284Leu) c.1213A>T (p.Ile405Leu) | |
| X | g.149482916T>C | CA10537439 | IDS | c.1483A>G (p.Ile495Val) c.850A>G (p.Ile284Val) c.1213A>G (p.Ile405Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149482916T>G | CA414517993 | IDS | c.1483A>C (p.Ile495Leu) c.850A>C (p.Ile284Leu) c.1213A>C (p.Ile405Leu) | |
| X | g.149482916T= | CA2465003975 | IDS | c.1483A= (p.Ile495=) c.850A= (p.Ile284=) c.1213A= (p.Ile405=) | |
| X | g.149482917G>A | CA519057466 | IDS | c.1482C>T (p.Thr494=) c.849C>T (p.Thr283=) c.1212C>T (p.Thr404=) | ClinVar dbSNP gnomAD v4 COSMIC |
| X | g.149482917G>C | CA519057467 | IDS | c.1482C>G (p.Thr494=) c.849C>G (p.Thr283=) c.1212C>G (p.Thr404=) | |
| X | g.149482917G>T | CA519057468 | IDS | c.1482C>A (p.Thr494=) c.849C>A (p.Thr283=) c.1212C>A (p.Thr404=) | gnomAD v4 |
| X | g.149482918G>A | CA414517995 | IDS | c.1481C>T (p.Thr494Ile) c.848C>T (p.Thr283Ile) c.1211C>T (p.Thr404Ile) | |
| X | g.149482918G>C | CA414517996 | IDS | c.1481C>G (p.Thr494Ser) c.848C>G (p.Thr283Ser) c.1211C>G (p.Thr404Ser) | |
| X | g.149482918G>T | CA414517997 | IDS | c.1481C>A (p.Thr494Asn) c.848C>A (p.Thr283Asn) c.1211C>A (p.Thr404Asn) | |
| X | g.149482919T>A | CA414517998 | IDS | c.1480A>T (p.Thr494Ser) c.847A>T (p.Thr283Ser) c.1210A>T (p.Thr404Ser) | |
| X | g.149482919T>C | CA414517999 | IDS | c.1480A>G (p.Thr494Ala) c.847A>G (p.Thr283Ala) c.1210A>G (p.Thr404Ala) | |
| X | g.149482919T>G | CA414518000 | IDS | c.1480A>C (p.Thr494Pro) c.847A>C (p.Thr283Pro) c.1210A>C (p.Thr404Pro) | |
| X | g.149482920G>A | CA519057469 | IDS | c.1479C>T (p.Arg493=) c.846C>T (p.Arg282=) c.1209C>T (p.Arg403=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149482920G>C | CA519057470 | IDS | c.1479C>G (p.Arg493=) c.846C>G (p.Arg282=) c.1209C>G (p.Arg403=) | |
| X | g.149482920G= | CA2465003976 | IDS | c.1479C= (p.Arg493=) c.846C= (p.Arg282=) c.1209C= (p.Arg403=) | |
| X | g.149482920G>T | CA519057471 | IDS | c.1479C>A (p.Arg493=) c.846C>A (p.Arg282=) c.1209C>A (p.Arg403=) | |
| X | g.149482921C>A | CA414518001 | IDS | c.1478G>T (p.Arg493Leu) c.845G>T (p.Arg282Leu) c.1208G>T (p.Arg403Leu) | |
| X | g.149482921C= | CA2465003977 | IDS | c.1478G= (p.Arg493=) c.845G= (p.Arg282=) c.1208G= (p.Arg403=) | |
| X | g.149482921C>G | CA414518002 | IDS | c.1478G>C (p.Arg493Pro) c.845G>C (p.Arg282Pro) c.1208G>C (p.Arg403Pro) | ClinVar dbSNP |
| X | g.149482921C>T | CA10537440 | IDS | c.1478G>A (p.Arg493His) c.845G>A (p.Arg282His) c.1208G>A (p.Arg403His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149482922G>A | CA337035525 | IDS | c.1477C>T (p.Arg493Cys) c.844C>T (p.Arg282Cys) c.1207C>T (p.Arg403Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149482922G>C | CA414518003 | IDS | c.1477C>G (p.Arg493Gly) c.844C>G (p.Arg282Gly) c.1207C>G (p.Arg403Gly) | |
| X | g.149482922G= | CA2465003978 | IDS | c.1477C= (p.Arg493=) c.844C= (p.Arg282=) c.1207C= (p.Arg403=) | |
| X | g.149482922G>T | CA414518004 | IDS | c.1477C>A (p.Arg493Ser) c.844C>A (p.Arg282Ser) c.1207C>A (p.Arg403Ser) | gnomAD v4 |
| X | g.149482923T>A | CA519057472 | IDS | c.1476A>T (p.Ile492=) c.843A>T (p.Ile281=) c.1206A>T (p.Ile402=) | |
| X | g.149482923T>C | CA414518005 | IDS | c.1476A>G (p.Ile492Met) c.843A>G (p.Ile281Met) c.1206A>G (p.Ile402Met) | |
| X | g.149482923T>G | CA519057473 | IDS | c.1476A>C (p.Ile492=) c.843A>C (p.Ile281=) c.1206A>C (p.Ile402=) | |
| X | g.149482924A= | CA2465003979 | IDS | c.1475T= (p.Ile492=) c.842T= (p.Ile281=) c.1205T= (p.Ile402=) | |
| X | g.149482924A>C | CA414518006 | IDS | c.1475T>G (p.Ile492Arg) c.842T>G (p.Ile281Arg) c.1205T>G (p.Ile402Arg) | |
| X | g.149482924A>G | CA10537441 | IDS | c.1475T>C (p.Ile492Thr) c.842T>C (p.Ile281Thr) c.1205T>C (p.Ile402Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149482924A>T | CA414518007 | IDS | c.1475T>A (p.Ile492Lys) c.842T>A (p.Ile281Lys) c.1205T>A (p.Ile402Lys) | |
| X | g.149482925T>A | CA414518008 | IDS | c.1474A>T (p.Ile492Leu) c.841A>T (p.Ile281Leu) c.1204A>T (p.Ile402Leu) | |
| X | g.149482925T>C | CA414518009 | IDS | c.1474A>G (p.Ile492Val) c.841A>G (p.Ile281Val) c.1204A>G (p.Ile402Val) | gnomAD v4 |
| X | g.149482925T>G | CA414518010 | IDS | c.1474A>C (p.Ile492Leu) c.841A>C (p.Ile281Leu) c.1204A>C (p.Ile402Leu) | |
| X | g.149482926G>A | CA519057474 | IDS | c.1473C>T (p.Ser491=) c.840C>T (p.Ser280=) c.1203C>T (p.Ser401=) | |
| X | g.149482926G>C | CA519057475 | IDS | c.1473C>G (p.Ser491=) c.840C>G (p.Ser280=) c.1203C>G (p.Ser401=) | |
| X | g.149482926G>T | CA519057476 | IDS | c.1473C>A (p.Ser491=) c.840C>A (p.Ser280=) c.1203C>A (p.Ser401=) | COSMIC |
| X | g.149482927G>A | CA414518011 | IDS | c.1472C>T (p.Ser491Phe) c.839C>T (p.Ser280Phe) c.1202C>T (p.Ser401Phe) | |
| X | g.149482927G>C | CA414518012 | IDS | c.1472C>G (p.Ser491Cys) c.839C>G (p.Ser280Cys) c.1202C>G (p.Ser401Cys) | |
| X | g.149482927G>T | CA414518013 | IDS | c.1472C>A (p.Ser491Tyr) c.839C>A (p.Ser280Tyr) c.1202C>A (p.Ser401Tyr) | ClinVar |
| X | g.149482928A>C | CA414518014 | IDS | c.1471T>G (p.Ser491Ala) c.838T>G (p.Ser280Ala) c.1201T>G (p.Ser401Ala) | |
| X | g.149482928A>G | CA414518015 | IDS | c.1471T>C (p.Ser491Pro) c.838T>C (p.Ser280Pro) c.1201T>C (p.Ser401Pro) | |
| X | g.149482928A>T | CA414518016 | IDS | c.1471T>A (p.Ser491Thr) c.838T>A (p.Ser280Thr) c.1201T>A (p.Ser401Thr) | |
| X | g.149482929A>C | CA414518017 | IDS | c.1470T>G (p.Tyr490Ter) c.837T>G (p.Tyr279Ter) c.1200T>G (p.Tyr400Ter) | ClinVar dbSNP |
| X | g.149482929A>G | CA519057477 | IDS | c.1470T>C (p.Tyr490=) c.837T>C (p.Tyr279=) c.1200T>C (p.Tyr400=) | |
| X | g.149482929A>T | CA414518018 | IDS | c.1470T>A (p.Tyr490Ter) c.837T>A (p.Tyr279Ter) c.1200T>A (p.Tyr400Ter) | ClinVar |
| X | g.149482930T>A | CA414518020 | IDS | c.1469A>T (p.Tyr490Phe) c.836A>T (p.Tyr279Phe) c.1199A>T (p.Tyr400Phe) | |
| X | g.149482930T>C | CA414518021 | IDS | c.1469A>G (p.Tyr490Cys) c.836A>G (p.Tyr279Cys) c.1199A>G (p.Tyr400Cys) | gnomAD v4 |
| X | g.149482930T>G | CA414518019 | IDS | c.1469A>C (p.Tyr490Ser) c.836A>C (p.Tyr279Ser) c.1199A>C (p.Tyr400Ser) | |
| X | g.149482931A>C | CA414518024 | IDS | c.1468T>G (p.Tyr490Asp) c.835T>G (p.Tyr279Asp) c.1198T>G (p.Tyr400Asp) | |
| X | g.149482931A>G | CA414518022 | IDS | c.1468T>C (p.Tyr490His) c.835T>C (p.Tyr279His) c.1198T>C (p.Tyr400His) | |
| X | g.149482931A>T | CA414518023 | IDS | c.1468T>A (p.Tyr490Asn) c.835T>A (p.Tyr279Asn) c.1198T>A (p.Tyr400Asn) | |
| X | g.149482932G>A | CA519057478 | IDS | c.1467C>T (p.Gly489=) c.834C>T (p.Gly278=) c.1197C>T (p.Gly399=) | |
| X | g.149482932G>C | CA519057480 | IDS | c.1467C>G (p.Gly489=) c.834C>G (p.Gly278=) c.1197C>G (p.Gly399=) | |
| X | g.149482932G>T | CA519057479 | IDS | c.1467C>A (p.Gly489=) c.834C>A (p.Gly278=) c.1197C>A (p.Gly399=) | |
| X | g.149482933C>A | CA414518025 | IDS | c.1466G>T (p.Gly489Val) c.833G>T (p.Gly278Val) c.1196G>T (p.Gly399Val) | |
| X | g.149482933C= | CA2465003980 | IDS | c.1466G= (p.Gly489=) c.833G= (p.Gly278=) c.1196G= (p.Gly399=) | |
| X | g.149482933C>G | CA356488 | IDS | c.1466G>C (p.Gly489Ala) c.833G>C (p.Gly278Ala) c.1196G>C (p.Gly399Ala) | ClinVar dbSNP |
| X | g.[149482933C>G;149482935C>A] | CA356492 | IDS | c.[1464G>T;1466G>C] (p.[Met488Ile;Gly489Ala]) c.[831G>T;833G>C] (p.[Met277Ile;Gly278Ala]) c.[1194G>T;1196G>C] (p.[Met398Ile;Gly399Ala]) | ClinVar |
| X | g.149482933C>T | CA414518026 | IDS | c.1466G>A (p.Gly489Asp) c.833G>A (p.Gly278Asp) c.1196G>A (p.Gly399Asp) | |
| X | g.149482935del | CA2499226407 | IDS | c.1466del (p.Gly489AlafsTer7) c.833del (p.Gly278AlafsTer7) c.1196del (p.Gly399AlafsTer7) | ClinVar dbSNP |
| X | g.149482933_149482945delinsTCCATGATCTTTG | CA2695236486 | IDS | c.1454_1466delinsCAAAGATCATGGA (p.Ile485_Gly489delinsThrLysIleMetAsp) c.821_833delinsCAAAGATCATGGA (p.Ile274_Gly278delinsThrLysIleMetAsp) c.1184_1196delinsCAAAGATCATGGA (p.Ile395_Gly399delinsThrLysIleMetAsp) | |
| X | g.149482934C>A | CA414518027 | IDS | c.1465G>T (p.Gly489Cys) c.832G>T (p.Gly278Cys) c.1195G>T (p.Gly399Cys) | |
| X | g.149482934C>G | CA414518028 | IDS | c.1465G>C (p.Gly489Arg) c.832G>C (p.Gly278Arg) c.1195G>C (p.Gly399Arg) | |
| X | g.149482934C>T | CA414518029 | IDS | c.1465G>A (p.Gly489Ser) c.832G>A (p.Gly278Ser) c.1195G>A (p.Gly399Ser) | |
| X | g.149482935C>A | CA356490 | IDS | c.1464G>T (p.Met488Ile) c.831G>T (p.Met277Ile) c.1194G>T (p.Met398Ile) | dbSNP |
| X | g.149482935C= | CA2465003981 | IDS | c.1464G= (p.Met488=) c.831G= (p.Met277=) c.1194G= (p.Met398=) | |
| X | g.149482935C>G | CA414518030 | IDS | c.1464G>C (p.Met488Ile) c.831G>C (p.Met277Ile) c.1194G>C (p.Met398Ile) | |
| X | g.149482935C>T | CA414518031 | IDS | c.1464G>A (p.Met488Ile) c.831G>A (p.Met277Ile) c.1194G>A (p.Met398Ile) | gnomAD v4 |
| X | g.149482935_149482936delinsCA | CA2465003982 | IDS | c.1463_1464delinsTG (p.Met488=) c.830_831delinsTG (p.Met277=) c.1193_1194delinsTG (p.Met398=) | |
| X | g.149482936del | CA356957 | IDS | c.1463del (p.Met488ArgfsTer8) c.830del (p.Met277ArgfsTer8) c.1193del (p.Met398ArgfsTer8) | ClinVar dbSNP |
| X | g.149482936A>C | CA414518033 | IDS | c.1463T>G (p.Met488Arg) c.830T>G (p.Met277Arg) c.1193T>G (p.Met398Arg) | |
| X | g.149482936A>G | CA414518034 | IDS | c.1463T>C (p.Met488Thr) c.830T>C (p.Met277Thr) c.1193T>C (p.Met398Thr) | |
| X | g.149482936A>T | CA414518032 | IDS | c.1463T>A (p.Met488Lys) c.830T>A (p.Met277Lys) c.1193T>A (p.Met398Lys) | |
| X | g.149482936_149482937insC | CA2695236487 | IDS | c.1462_1463insG (p.Met488SerfsTer11) c.829_830insG (p.Met277SerfsTer11) c.1192_1193insG (p.Met398SerfsTer11) | |
| X | g.149482937T>A | CA414518035 | IDS | c.1462A>T (p.Met488Leu) c.829A>T (p.Met277Leu) c.1192A>T (p.Met398Leu) | |
| X | g.149482937T>C | CA414518036 | IDS | c.1462A>G (p.Met488Val) c.829A>G (p.Met277Val) c.1192A>G (p.Met398Val) | gnomAD v4 |
| X | g.149482937T>G | CA414518037 | IDS | c.1462A>C (p.Met488Leu) c.829A>C (p.Met277Leu) c.1192A>C (p.Met398Leu) | |
| X | g.149482938G>A | CA519057481 | IDS | c.1461C>T (p.Ile487=) c.828C>T (p.Ile276=) c.1191C>T (p.Ile397=) | |
| X | g.149482938G>C | CA414518038 | IDS | c.1461C>G (p.Ile487Met) c.828C>G (p.Ile276Met) c.1191C>G (p.Ile397Met) | |
| X | g.149482938G>T | CA519057482 | IDS | c.1461C>A (p.Ile487=) c.828C>A (p.Ile276=) c.1191C>A (p.Ile397=) | |
| X | g.149482939A>C | CA414518041 | IDS | c.1460T>G (p.Ile487Ser) c.827T>G (p.Ile276Ser) c.1190T>G (p.Ile397Ser) | |
| X | g.149482939A>G | CA414518040 | IDS | c.1460T>C (p.Ile487Thr) c.827T>C (p.Ile276Thr) c.1190T>C (p.Ile397Thr) | |
| X | g.149482939A>T | CA414518039 | IDS | c.1460T>A (p.Ile487Asn) c.827T>A (p.Ile276Asn) c.1190T>A (p.Ile397Asn) | |
| X | g.149482940_149483166del | CA2695236488 | IDS | c.1234_1460del (p.Gly412HisfsTer11) c.601_827del (p.Gly201HisfsTer11) c.964_1190del (p.Gly322HisfsTer11) | |
| X | g.149482940T>A | CA414518042 | IDS | c.1459A>T (p.Ile487Phe) c.826A>T (p.Ile276Phe) c.1189A>T (p.Ile397Phe) | |
| X | g.149482940T>C | CA414518043 | IDS | c.1459A>G (p.Ile487Val) c.826A>G (p.Ile276Val) c.1189A>G (p.Ile397Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.149482940T>G | CA414518044 | IDS | c.1459A>C (p.Ile487Leu) c.826A>C (p.Ile276Leu) c.1189A>C (p.Ile397Leu) | |
| X | g.149482940T= | CA2465003983 | IDS | c.1459A= (p.Ile487=) c.826A= (p.Ile276=) c.1189A= (p.Ile397=) | |
| X | g.149482941C>A | CA414518045 | IDS | c.1458G>T (p.Lys486Asn) c.825G>T (p.Lys275Asn) c.1188G>T (p.Lys396Asn) | gnomAD v4 |
| X | g.149482941C= | CA2465003984 | IDS | c.1458G= (p.Lys486=) c.825G= (p.Lys275=) c.1188G= (p.Lys396=) | |
| X | g.149482941C>G | CA414518046 | IDS | c.1458G>C (p.Lys486Asn) c.825G>C (p.Lys275Asn) c.1188G>C (p.Lys396Asn) | |
| X | g.149482941C>T | CA10537442 | IDS | c.1458G>A (p.Lys486=) c.825G>A (p.Lys275=) c.1188G>A (p.Lys396=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149482942T>A | CA414518049 | IDS | c.1457A>T (p.Lys486Met) c.824A>T (p.Lys275Met) c.1187A>T (p.Lys396Met) | |
| X | g.149482942T>C | CA414518048 | IDS | c.1457A>G (p.Lys486Arg) c.824A>G (p.Lys275Arg) c.1187A>G (p.Lys396Arg) | gnomAD v4 |
| X | g.149482942T>G | CA414518047 | IDS | c.1457A>C (p.Lys486Thr) c.824A>C (p.Lys275Thr) c.1187A>C (p.Lys396Thr) | |
| X | g.149482943_149482964dup | CA2499226408 | IDS | c.1436_1457dup (p.Ile487AlafsTer19) c.803_824dup (p.Ile276AlafsTer19) c.1166_1187dup (p.Ile397AlafsTer19) | ClinVar dbSNP |
| X | g.149482943T>A | CA414518050 | IDS | c.1456A>T (p.Lys486Ter) c.823A>T (p.Lys275Ter) c.1186A>T (p.Lys396Ter) | |
| X | g.149482943T>C | CA414518051 | IDS | c.1456A>G (p.Lys486Glu) c.823A>G (p.Lys275Glu) c.1186A>G (p.Lys396Glu) | |
| X | g.149482943T>G | CA414518052 | IDS | c.1456A>C (p.Lys486Gln) c.823A>C (p.Lys275Gln) c.1186A>C (p.Lys396Gln) | |
| X | g.149482943_149482945delinsTTA | CA2465003985 | IDS | c.1454_1456delinsTAA (p.Ile485=) c.821_823delinsTAA (p.Ile274=) c.1184_1186delinsTAA (p.Ile395=) | |
| X | g.149482944T>A | CA519057483 | IDS | c.1455A>T (p.Ile485=) c.822A>T (p.Ile274=) c.1185A>T (p.Ile395=) | |
| X | g.149482944T>C | CA414518053 | IDS | c.1455A>G (p.Ile485Met) c.822A>G (p.Ile274Met) c.1185A>G (p.Ile395Met) | |
| X | g.149482944T>G | CA519057484 | IDS | c.1455A>C (p.Ile485=) c.822A>C (p.Ile274=) c.1185A>C (p.Ile395=) | |
| X | g.149482947_149482948del | CA916084005 | IDS | c.1454_1455del (p.Ile485LysfsTer13) c.821_822del (p.Ile274LysfsTer13) c.1184_1185del (p.Ile395LysfsTer13) | ClinVar dbSNP |
| X | g.149482945A= | CA2465003986 | IDS | c.1454T= (p.Ile485=) c.821T= (p.Ile274=) c.1184T= (p.Ile395=) | |
| X | g.149482945A>C | CA414518054 | IDS | c.1454T>G (p.Ile485Arg) c.821T>G (p.Ile274Arg) c.1184T>G (p.Ile395Arg) | |
| X | g.149482945A>G | CA10537443 | IDS | c.1454T>C (p.Ile485Thr) c.821T>C (p.Ile274Thr) c.1184T>C (p.Ile395Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149482945A>T | CA414518055 | IDS | c.1454T>A (p.Ile485Lys) c.821T>A (p.Ile274Lys) c.1184T>A (p.Ile395Lys) | ClinVar dbSNP |
| X | g.149482946T>A | CA414518056 | IDS | c.1453A>T (p.Ile485Leu) c.820A>T (p.Ile274Leu) c.1183A>T (p.Ile395Leu) | |
| X | g.149482946T>C | CA414518057 | IDS | c.1453A>G (p.Ile485Val) c.820A>G (p.Ile274Val) c.1183A>G (p.Ile395Val) | |
| X | g.149482946T>G | CA414518058 | IDS | c.1453A>C (p.Ile485Leu) c.820A>C (p.Ile274Leu) c.1183A>C (p.Ile395Leu) | |
| X | g.149482946dup | CA2695236489 | IDS | c.1453dup (p.Ile485AsnfsTer14) c.820dup (p.Ile274AsnfsTer14) c.1183dup (p.Ile395AsnfsTer14) | |
| X | g.149482947A>C | CA414518059 | IDS | c.1452T>G (p.Asp484Glu) c.819T>G (p.Asp273Glu) c.1182T>G (p.Asp394Glu) | |
| X | g.149482947A>G | CA519057485 | IDS | c.1452T>C (p.Asp484=) c.819T>C (p.Asp273=) c.1182T>C (p.Asp394=) | ClinVar |
| X | g.149482947A>T | CA414518060 | IDS | c.1452T>A (p.Asp484Glu) c.819T>A (p.Asp273Glu) c.1182T>A (p.Asp394Glu) | |
| X | g.149482948T>A | CA414518062 | IDS | c.1451A>T (p.Asp484Val) c.818A>T (p.Asp273Val) c.1181A>T (p.Asp394Val) | |
| X | g.149482948T>C | CA414518063 | IDS | c.1451A>G (p.Asp484Gly) c.818A>G (p.Asp273Gly) c.1181A>G (p.Asp394Gly) | |
| X | g.149482948T>G | CA414518061 | IDS | c.1451A>C (p.Asp484Ala) c.818A>C (p.Asp273Ala) c.1181A>C (p.Asp394Ala) | |
| X | g.149482949C>A | CA414518064 | IDS | c.1450G>T (p.Asp484Tyr) c.817G>T (p.Asp273Tyr) c.1180G>T (p.Asp394Tyr) | |
| X | g.149482949C>G | CA414518065 | IDS | c.1450G>C (p.Asp484His) c.817G>C (p.Asp273His) c.1180G>C (p.Asp394His) | gnomAD v4 |
| X | g.149482949C>T | CA414518066 | IDS | c.1450G>A (p.Asp484Asn) c.817G>A (p.Asp273Asn) c.1180G>A (p.Asp394Asn) | |
| X | g.149482952_149482964del | CA519057486 | IDS | c.1438_1450del (p.Pro480IlefsTer2) c.805_817del (p.Pro269IlefsTer2) c.1168_1180del (p.Pro390IlefsTer2) | |
| X | g.149482949_149483122del | CA2580101611 | IDS | c.1277_1450del (p.Ser426_Asp484delinsTyr) c.644_817del (p.Ser215_Asp273delinsTyr) c.1007_1180del (p.Ser336_Asp394delinsTyr) | ClinVar |
| X | g.149482950T>A | CA414518067 | IDS | c.1449A>T (p.Lys483Asn) c.816A>T (p.Lys272Asn) c.1179A>T (p.Lys393Asn) | |
| X | g.149482950T>C | CA519057487 | IDS | c.1449A>G (p.Lys483=) c.816A>G (p.Lys272=) c.1179A>G (p.Lys393=) | |
| X | g.149482950T>G | CA414518068 | IDS | c.1449A>C (p.Lys483Asn) c.816A>C (p.Lys272Asn) c.1179A>C (p.Lys393Asn) | |
| X | g.149482953del | CA645610074 | IDS | c.1449del (p.Asp484IlefsTer2) c.816del (p.Asp273IlefsTer2) c.1179del (p.Asp394IlefsTer2) | COSMIC |
| X | g.149482951T>A | CA414518071 | IDS | c.1448A>T (p.Lys483Ile) c.815A>T (p.Lys272Ile) c.1178A>T (p.Lys393Ile) | |
| X | g.149482951T>C | CA414518069 | IDS | c.1448A>G (p.Lys483Arg) c.815A>G (p.Lys272Arg) c.1178A>G (p.Lys393Arg) | |
| X | g.149482951T>G | CA414518070 | IDS | c.1448A>C (p.Lys483Thr) c.815A>C (p.Lys272Thr) c.1178A>C (p.Lys393Thr) | |
| X | g.149482952T>A | CA414518072 | IDS | c.1447A>T (p.Lys483Ter) c.814A>T (p.Lys272Ter) c.1177A>T (p.Lys393Ter) | |
| X | g.149482952T>C | CA414518073 | IDS | c.1447A>G (p.Lys483Glu) c.814A>G (p.Lys272Glu) c.1177A>G (p.Lys393Glu) | ClinVar dbSNP |
| X | g.149482952T>G | CA414518074 | IDS | c.1447A>C (p.Lys483Gln) c.814A>C (p.Lys272Gln) c.1177A>C (p.Lys393Gln) | |
| X | g.149482953T>A | CA414518075 | IDS | c.1446A>T (p.Leu482Phe) c.813A>T (p.Leu271Phe) c.1176A>T (p.Leu392Phe) | |
| X | g.149482953T>C | CA519057488 | IDS | c.1446A>G (p.Leu482=) c.813A>G (p.Leu271=) c.1176A>G (p.Leu392=) | |
| X | g.149482953T>G | CA414518076 | IDS | c.1446A>C (p.Leu482Phe) c.813A>C (p.Leu271Phe) c.1176A>C (p.Leu392Phe) | |
| X | g.149482954A>C | CA414518079 | IDS | c.1445T>G (p.Leu482Ter) c.812T>G (p.Leu271Ter) c.1175T>G (p.Leu392Ter) | ClinVar |
| X | g.149482954A>G | CA414518078 | IDS | c.1445T>C (p.Leu482Ser) c.812T>C (p.Leu271Ser) c.1175T>C (p.Leu392Ser) | |
| X | g.149482954A>T | CA414518077 | IDS | c.1445T>A (p.Leu482Ter) c.812T>A (p.Leu271Ter) c.1175T>A (p.Leu392Ter) | |
| X | g.149482955_149482956dup | CA2695236490 | IDS | c.1444_1445dup (p.Leu482PhefsTer2) c.811_812dup (p.Leu271PhefsTer2) c.1174_1175dup (p.Leu392PhefsTer2) | |
| X | g.149482955A= | CA2465003987 | IDS | c.1444T= (p.Leu482=) c.811T= (p.Leu271=) c.1174T= (p.Leu392=) | |
| X | g.149482955A>C | CA414518080 | IDS | c.1444T>G (p.Leu482Val) c.811T>G (p.Leu271Val) c.1174T>G (p.Leu392Val) | |
| X | g.149482955A>G | CA519057489 | IDS | c.1444T>C (p.Leu482=) c.811T>C (p.Leu271=) c.1174T>C (p.Leu392=) | |
| X | g.149482955A>T | CA10537444 | IDS | c.1444T>A (p.Leu482Ile) c.811T>A (p.Leu271Ile) c.1174T>A (p.Leu392Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149482955_149482956insTGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGG | CA10537445 | IDS | c.1443_1444insCCACAGTTCTTTACCTTTACTTGGCTTAGAGAAACTGTATCTTTGTTGCTTCATATAACCTTTCCCCA (p.Leu482ProfsTer24) c.810_811insCCACAGTTCTTTACCTTTACTTGGCTTAGAGAAACTGTATCTTTGTTGCTTCATATAACCTTTCCCCA (p.Leu271ProfsTer24) c.1173_1174insCCACAGTTCTTTACCTTTACTTGGCTTAGAGAAACTGTATCTTTGTTGCTTCATATAACCTTTCCCCA (p.Leu392ProfsTer24) | ExAC |
| X | g.149482956A>C | CA414518081 | IDS | c.1443T>G (p.Ser481Arg) c.810T>G (p.Ser270Arg) c.1173T>G (p.Ser391Arg) | |
| X | g.149482956A>G | CA519057490 | IDS | c.1443T>C (p.Ser481=) c.810T>C (p.Ser270=) c.1173T>C (p.Ser391=) | ClinVar |
| X | g.149482956A>T | CA414518082 | IDS | c.1443T>A (p.Ser481Arg) c.810T>A (p.Ser270Arg) c.1173T>A (p.Ser391Arg) | |
| X | g.149482956_149482961delinsACTCGG | CA2465003988 | IDS | c.1438_1443delinsCCGAGT (p.Pro480=) c.805_810delinsCCGAGT (p.Pro269=) c.1168_1173delinsCCGAGT (p.Pro390=) | |
| X | g.149482957C>A | CA414518083 | IDS | c.1442G>T (p.Ser481Ile) c.809G>T (p.Ser270Ile) c.1172G>T (p.Ser391Ile) | |
| X | g.149482957C>G | CA414518085 | IDS | c.1442G>C (p.Ser481Thr) c.809G>C (p.Ser270Thr) c.1172G>C (p.Ser391Thr) | |
| X | g.149482957C>T | CA414518084 | IDS | c.1442G>A (p.Ser481Asn) c.809G>A (p.Ser270Asn) c.1172G>A (p.Ser391Asn) | |
| X | g.149482957delinsGA | CA2499226409 | IDS | c.1442delinsTC (p.Ser481IlefsTer18) c.809delinsTC (p.Ser270IlefsTer18) c.1172delinsTC (p.Ser391IlefsTer18) | ClinVar dbSNP |
| X | g.149482959_149482963del | CA2465003989 | IDS | c.1438_1442del (p.Pro480PhefsTer17) c.805_809del (p.Pro269PhefsTer17) c.1168_1172del (p.Pro390PhefsTer17) | ClinVar dbSNP |
| X | g.149482958T>A | CA414518086 | IDS | c.1441A>T (p.Ser481Cys) c.808A>T (p.Ser270Cys) c.1171A>T (p.Ser391Cys) | |
| X | g.149482958T>C | CA414518087 | IDS | c.1441A>G (p.Ser481Gly) c.808A>G (p.Ser270Gly) c.1171A>G (p.Ser391Gly) | |
| X | g.149482958T>G | CA414518088 | IDS | c.1441A>C (p.Ser481Arg) c.808A>C (p.Ser270Arg) c.1171A>C (p.Ser391Arg) | |
| X | g.149482959C>A | CA519173757 | IDS | c.1440G>T (p.Pro480=) c.807G>T (p.Pro269=) c.1170G>T (p.Pro390=) | |
| X | g.149482959C= | CA2465003990 | IDS | c.1440G= (p.Pro480=) c.807G= (p.Pro269=) c.1170G= (p.Pro390=) | |
| X | g.149482959C>G | CA519173761 | IDS | c.1440G>C (p.Pro480=) c.807G>C (p.Pro269=) c.1170G>C (p.Pro390=) | |
| X | g.149482959C>T | CA519173762 | IDS | c.1440G>A (p.Pro480=) c.807G>A (p.Pro269=) c.1170G>A (p.Pro390=) | ClinVar dbSNP gnomAD v4 COSMIC |
| X | g.149482960G>A | CA414518089 | IDS | c.1439C>T (p.Pro480Leu) c.806C>T (p.Pro269Leu) c.1169C>T (p.Pro390Leu) | ClinVar dbSNP gnomAD v4 |
| X | g.149482960G>C | CA414518090 | IDS | c.1439C>G (p.Pro480Arg) c.806C>G (p.Pro269Arg) c.1169C>G (p.Pro390Arg) | |
| X | g.149482960G>T | CA414518091 | IDS | c.1439C>A (p.Pro480Gln) c.806C>A (p.Pro269Gln) c.1169C>A (p.Pro390Gln) | |
| X | g.149482961G>A | CA10537446 | IDS | c.1438C>T (p.Pro480Ser) c.805C>T (p.Pro269Ser) c.1168C>T (p.Pro390Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149482961G>C | CA414518092 | IDS | c.1438C>G (p.Pro480Ala) c.805C>G (p.Pro269Ala) c.1168C>G (p.Pro390Ala) | |
| X | g.149482961G= | CA2465003991 | IDS | c.1438C= (p.Pro480=) c.805C= (p.Pro269=) c.1168C= (p.Pro390=) | |
| X | g.149482961G>T | CA414518093 | IDS | c.1438C>A (p.Pro480Thr) c.805C>A (p.Pro269Thr) c.1168C>A (p.Pro390Thr) | |
| X | g.149482961_149482973delinsGCTTGTCAGAATT | CA2465003992 | IDS | c.1426_1438delinsAATTCTGACAAGC (p.Asn476=) c.793_805delinsAATTCTGACAAGC (p.Asn265=) c.1156_1168delinsAATTCTGACAAGC (p.Asn386=) | |
| X | g.149482962C>A | CA414518094 | IDS | c.1437G>T (p.Lys479Asn) c.804G>T (p.Lys268Asn) c.1167G>T (p.Lys389Asn) | |
| X | g.149482962C>G | CA414518095 | IDS | c.1437G>C (p.Lys479Asn) c.804G>C (p.Lys268Asn) c.1167G>C (p.Lys389Asn) | |
| X | g.149482962C>T | CA519173771 | IDS | c.1437G>A (p.Lys479=) c.804G>A (p.Lys268=) c.1167G>A (p.Lys389=) | |
| X | g.149482963_149482974del | CA2465003993 | IDS | c.1426_1437del (p.Asn476_Lys479del) c.793_804del (p.Asn265_Lys268del) c.1156_1167del (p.Asn386_Lys389del) | ClinVar dbSNP |
| X | g.149482963T>A | CA414518096 | IDS | c.1436A>T (p.Lys479Met) c.803A>T (p.Lys268Met) c.1166A>T (p.Lys389Met) | |
| X | g.149482963T>C | CA414518097 | IDS | c.1436A>G (p.Lys479Arg) c.803A>G (p.Lys268Arg) c.1166A>G (p.Lys389Arg) | |
| X | g.149482963T>G | CA414518098 | IDS | c.1436A>C (p.Lys479Thr) c.803A>C (p.Lys268Thr) c.1166A>C (p.Lys389Thr) | |
| X | g.149482964T>A | CA414518099 | IDS | c.1435A>T (p.Lys479Ter) c.802A>T (p.Lys268Ter) c.1165A>T (p.Lys389Ter) | |
| X | g.149482964T>C | CA414518101 | IDS | c.1435A>G (p.Lys479Glu) c.802A>G (p.Lys268Glu) c.1165A>G (p.Lys389Glu) | |
| X | g.149482964T>G | CA414518100 | IDS | c.1435A>C (p.Lys479Gln) c.802A>C (p.Lys268Gln) c.1165A>C (p.Lys389Gln) | |
| X | g.149482965G>A | CA519173775 | IDS | c.1434C>T (p.Asp478=) c.801C>T (p.Asp267=) c.1164C>T (p.Asp388=) | ClinVar gnomAD v4 |
| X | g.149482965G>C | CA414518102 | IDS | c.1434C>G (p.Asp478Glu) c.801C>G (p.Asp267Glu) c.1164C>G (p.Asp388Glu) | |
| X | g.149482965G>T | CA414518103 | IDS | c.1434C>A (p.Asp478Glu) c.801C>A (p.Asp267Glu) c.1164C>A (p.Asp388Glu) |