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.149482940_149483166del | CA2695236488 | IDS | c.1234_1460del (p.Gly412HisfsTer11) c.601_827del (p.Gly201HisfsTer11) c.964_1190del (p.Gly322HisfsTer11) | |
| 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.149483017A>C | CA414518212 | IDS | c.1382T>G (p.Ile461Ser) c.749T>G (p.Ile250Ser) c.1112T>G (p.Ile371Ser) | |
| X | g.149483017A>G | CA414518213 | IDS | c.1382T>C (p.Ile461Thr) c.749T>C (p.Ile250Thr) c.1112T>C (p.Ile371Thr) | gnomAD v4 |
| X | g.149483017A>T | CA414518214 | IDS | c.1382T>A (p.Ile461Asn) c.749T>A (p.Ile250Asn) c.1112T>A (p.Ile371Asn) | |
| X | g.149483018T>A | CA414518215 | IDS | c.1381A>T (p.Ile461Phe) c.748A>T (p.Ile250Phe) c.1111A>T (p.Ile371Phe) | gnomAD v4 |
| X | g.149483018T>C | CA414518216 | IDS | c.1381A>G (p.Ile461Val) c.748A>G (p.Ile250Val) c.1111A>G (p.Ile371Val) | |
| X | g.149483018T>G | CA414518217 | IDS | c.1381A>C (p.Ile461Leu) c.748A>C (p.Ile250Leu) c.1111A>C (p.Ile371Leu) | |
| X | g.149483019C>A | CA519173909 | IDS | c.1380G>T (p.Leu460=) c.747G>T (p.Leu249=) c.1110G>T (p.Leu370=) | |
| X | g.149483019C= | CA2465004017 | IDS | c.1380G= (p.Leu460=) c.747G= (p.Leu249=) c.1110G= (p.Leu370=) | |
| X | g.149483019C>G | CA519173910 | IDS | c.1380G>C (p.Leu460=) c.747G>C (p.Leu249=) c.1110G>C (p.Leu370=) | gnomAD v4 |
| X | g.149483019C>T | CA10537449 | IDS | c.1380G>A (p.Leu460=) c.747G>A (p.Leu249=) c.1110G>A (p.Leu370=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149483020A>C | CA414518218 | IDS | c.1379T>G (p.Leu460Arg) c.746T>G (p.Leu249Arg) c.1109T>G (p.Leu370Arg) | |
| X | g.149483020A>G | CA414518219 | IDS | c.1379T>C (p.Leu460Pro) c.746T>C (p.Leu249Pro) c.1109T>C (p.Leu370Pro) | |
| X | g.149483020A>T | CA414518220 | IDS | c.1379T>A (p.Leu460Gln) c.746T>A (p.Leu249Gln) c.1109T>A (p.Leu370Gln) | |
| X | g.149483021G>A | CA519173911 | IDS | c.1378C>T (p.Leu460=) c.745C>T (p.Leu249=) c.1108C>T (p.Leu370=) | ClinVar |
| X | g.149483021G>C | CA414518221 | IDS | c.1378C>G (p.Leu460Val) c.745C>G (p.Leu249Val) c.1108C>G (p.Leu370Val) | |
| X | g.149483021G>T | CA414518222 | IDS | c.1378C>A (p.Leu460Met) c.745C>A (p.Leu249Met) c.1108C>A (p.Leu370Met) | |
| X | g.149483022T>A | CA414518224 | IDS | c.1377A>T (p.Glu459Asp) c.744A>T (p.Glu248Asp) c.1107A>T (p.Glu369Asp) | |
| X | g.149483022T>C | CA519173915 | IDS | c.1377A>G (p.Glu459=) c.744A>G (p.Glu248=) c.1107A>G (p.Glu369=) | gnomAD v4 |
| X | g.149483022T>G | CA414518223 | IDS | c.1377A>C (p.Glu459Asp) c.744A>C (p.Glu248Asp) c.1107A>C (p.Glu369Asp) | |
| X | g.149483023del | CA2695236502 | IDS | c.1377del (p.Glu459AspfsTer2) c.744del (p.Glu248AspfsTer2) c.1107del (p.Glu369AspfsTer2) | |
| X | g.149483023T>A | CA414518225 | IDS | c.1376A>T (p.Glu459Val) c.743A>T (p.Glu248Val) c.1106A>T (p.Glu369Val) | |
| X | g.149483023T>C | CA414518226 | IDS | c.1376A>G (p.Glu459Gly) c.743A>G (p.Glu248Gly) c.1106A>G (p.Glu369Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149483023T>G | CA414518227 | IDS | c.1376A>C (p.Glu459Ala) c.743A>C (p.Glu248Ala) c.1106A>C (p.Glu369Ala) | |
| X | g.149483023T= | CA2465004018 | IDS | c.1376A= (p.Glu459=) c.743A= (p.Glu248=) c.1106A= (p.Glu369=) | |
| X | g.149483024C>A | CA414518228 | IDS | c.1375G>T (p.Glu459Ter) c.742G>T (p.Glu248Ter) c.1105G>T (p.Glu369Ter) | ClinVar dbSNP |
| X | g.149483024C>G | CA414518229 | IDS | c.1375G>C (p.Glu459Gln) c.742G>C (p.Glu248Gln) c.1105G>C (p.Glu369Gln) | |
| X | g.149483024C>T | CA414518230 | IDS | c.1375G>A (p.Glu459Lys) c.742G>A (p.Glu248Lys) c.1105G>A (p.Glu369Lys) | |
| X | g.149483025A>C | CA519173919 | IDS | c.1374T>G (p.Arg458=) c.741T>G (p.Arg247=) c.1104T>G (p.Arg368=) | |
| X | g.149483025A>G | CA519173920 | IDS | c.1374T>C (p.Arg458=) c.741T>C (p.Arg247=) c.1104T>C (p.Arg368=) | |
| X | g.149483025A>T | CA519173921 | IDS | c.1374T>A (p.Arg458=) c.741T>A (p.Arg247=) c.1104T>A (p.Arg368=) | |
| X | g.149483026C>A | CA10537451 | IDS | c.1373G>T (p.Arg458Leu) c.740G>T (p.Arg247Leu) c.1103G>T (p.Arg368Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149483026C= | CA2465004019 | IDS | c.1373G= (p.Arg458=) c.740G= (p.Arg247=) c.1103G= (p.Arg368=) | |
| X | g.149483026C>G | CA414518231 | IDS | c.1373G>C (p.Arg458Pro) c.740G>C (p.Arg247Pro) c.1103G>C (p.Arg368Pro) | |
| X | g.149483026C>T | CA10537450 | IDS | c.1373G>A (p.Arg458His) c.740G>A (p.Arg247His) c.1103G>A (p.Arg368His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.149483027G>A | CA10537452 | IDS | c.1372C>T (p.Arg458Cys) c.739C>T (p.Arg247Cys) c.1102C>T (p.Arg368Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.149483027G>C | CA414518232 | IDS | c.1372C>G (p.Arg458Gly) c.739C>G (p.Arg247Gly) c.1102C>G (p.Arg368Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149483027G= | CA2465004020 | IDS | c.1372C= (p.Arg458=) c.739C= (p.Arg247=) c.1102C= (p.Arg368=) | |
| X | g.149483027G>T | CA414518233 | IDS | c.1372C>A (p.Arg458Ser) c.739C>A (p.Arg247Ser) c.1102C>A (p.Arg368Ser) | |
| X | g.149483028G>A | CA519173925 | IDS | c.1371C>T (p.Pro457=) c.738C>T (p.Pro246=) c.1101C>T (p.Pro367=) | |
| X | g.149483028G>C | CA519173926 | IDS | c.1371C>G (p.Pro457=) c.738C>G (p.Pro246=) c.1101C>G (p.Pro367=) | ClinVar |
| X | g.149483028G>T | CA519173927 | IDS | c.1371C>A (p.Pro457=) c.738C>A (p.Pro246=) c.1101C>A (p.Pro367=) | |
| X | g.149483029G>A | CA414518234 | IDS | c.1370C>T (p.Pro457Leu) c.737C>T (p.Pro246Leu) c.1100C>T (p.Pro367Leu) | |
| X | g.149483029G>C | CA337035528 | IDS | c.1370C>G (p.Pro457Arg) c.737C>G (p.Pro246Arg) c.1100C>G (p.Pro367Arg) | dbSNP gnomAD v4 |
| X | g.149483029G= | CA2465004021 | IDS | c.1370C= (p.Pro457=) c.737C= (p.Pro246=) c.1100C= (p.Pro367=) | |
| X | g.149483029G>T | CA414518235 | IDS | c.1370C>A (p.Pro457His) c.737C>A (p.Pro246His) c.1100C>A (p.Pro367His) | |
| X | g.149483030G>A | CA10537453 | IDS | c.1369C>T (p.Pro457Ser) c.736C>T (p.Pro246Ser) c.1099C>T (p.Pro367Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149483030G>C | CA414518237 | IDS | c.1369C>G (p.Pro457Ala) c.736C>G (p.Pro246Ala) c.1099C>G (p.Pro367Ala) | |
| X | g.149483030G= | CA2465004022 | IDS | c.1369C= (p.Pro457=) c.736C= (p.Pro246=) c.1099C= (p.Pro367=) | |
| X | g.149483030G>T | CA414518236 | IDS | c.1369C>A (p.Pro457Thr) c.736C>A (p.Pro246Thr) c.1099C>A (p.Pro367Thr) | |
| X | g.149483031A>C | CA414518238 | IDS | c.1368T>G (p.Asn456Lys) c.735T>G (p.Asn245Lys) c.1098T>G (p.Asn366Lys) | |
| X | g.149483031A>G | CA519173931 | IDS | c.1368T>C (p.Asn456=) c.735T>C (p.Asn245=) c.1098T>C (p.Asn366=) | |
| X | g.149483031A>T | CA414518239 | IDS | c.1368T>A (p.Asn456Lys) c.735T>A (p.Asn245Lys) c.1098T>A (p.Asn366Lys) | |
| X | g.149483032T>A | CA414518240 | IDS | c.1367A>T (p.Asn456Ile) c.734A>T (p.Asn245Ile) c.1097A>T (p.Asn366Ile) | |
| X | g.149483032T>C | CA414518241 | IDS | c.1367A>G (p.Asn456Ser) c.734A>G (p.Asn245Ser) c.1097A>G (p.Asn366Ser) | |
| X | g.149483032T>G | CA414518242 | IDS | c.1367A>C (p.Asn456Thr) c.734A>C (p.Asn245Thr) c.1097A>C (p.Asn366Thr) | |
| X | g.149483033T>A | CA414518243 | IDS | c.1366A>T (p.Asn456Tyr) c.733A>T (p.Asn245Tyr) c.1096A>T (p.Asn366Tyr) | |
| X | g.149483033T>C | CA414518244 | IDS | c.1366A>G (p.Asn456Asp) c.733A>G (p.Asn245Asp) c.1096A>G (p.Asn366Asp) | |
| X | g.149483033T>G | CA414518245 | IDS | c.1366A>C (p.Asn456His) c.733A>C (p.Asn245His) c.1096A>C (p.Asn366His) | |
| X | g.149483036_149483046del | CA2695236503 | IDS | c.1356_1366del (p.Tyr452Ter) c.723_733del (p.Tyr241Ter) c.1086_1096del (p.Tyr362Ter) | |
| X | g.149483034A>C | CA519173935 | IDS | c.1365T>G (p.Gly455=) c.732T>G (p.Gly244=) c.1095T>G (p.Gly365=) | |
| X | g.149483034A>G | CA519173936 | IDS | c.1365T>C (p.Gly455=) c.732T>C (p.Gly244=) c.1095T>C (p.Gly365=) | COSMIC |
| X | g.149483034A>T | CA519173937 | IDS | c.1365T>A (p.Gly455=) c.732T>A (p.Gly244=) c.1095T>A (p.Gly365=) | |
| X | g.149483034_149483037dup | CA2695236504 | IDS | c.1362_1365dup (p.Asn456TrpfsTer2) c.729_732dup (p.Asn245TrpfsTer2) c.1092_1095dup (p.Asn366TrpfsTer2) | |
| X | g.149483035C>A | CA414518246 | IDS | c.1364G>T (p.Gly455Val) c.731G>T (p.Gly244Val) c.1094G>T (p.Gly365Val) | ClinVar |
| X | g.149483035C>G | CA414518247 | IDS | c.1364G>C (p.Gly455Ala) c.731G>C (p.Gly244Ala) c.1094G>C (p.Gly365Ala) | |
| X | g.149483035C>T | CA414518248 | IDS | c.1364G>A (p.Gly455Asp) c.731G>A (p.Gly244Asp) c.1094G>A (p.Gly365Asp) | |
| X | g.149483037_149483052del | CA2695236505 | IDS | c.1349_1364del (p.Asp450ValfsTer6) c.716_731del (p.Asp239ValfsTer6) c.1079_1094del (p.Asp360ValfsTer6) | |
| X | g.149483036C>A | CA414518250 | IDS | c.1363G>T (p.Gly455Cys) c.730G>T (p.Gly244Cys) c.1093G>T (p.Gly365Cys) | |
| X | g.149483036C= | CA2465004023 | IDS | c.1363G= (p.Gly455=) c.730G= (p.Gly244=) c.1093G= (p.Gly365=) | |
| X | g.149483036C>G | CA10537454 | IDS | c.1363G>C (p.Gly455Arg) c.730G>C (p.Gly244Arg) c.1093G>C (p.Gly365Arg) | dbSNP ExAC gnomAD v2 |
| X | g.149483036C>T | CA414518249 | IDS | c.1363G>A (p.Gly455Ser) c.730G>A (p.Gly244Ser) c.1093G>A (p.Gly365Ser) | |
| X | g.149483037A= | CA2465004024 | IDS | c.1362T= (p.Pro454=) c.729T= (p.Pro243=) c.1092T= (p.Pro364=) | |
| X | g.149483037A>C | CA519173941 | IDS | c.1362T>G (p.Pro454=) c.729T>G (p.Pro243=) c.1092T>G (p.Pro364=) | |
| X | g.149483037A>G | CA519173942 | IDS | c.1362T>C (p.Pro454=) c.729T>C (p.Pro243=) c.1092T>C (p.Pro364=) | |
| X | g.149483037A>T | CA519173943 | IDS | c.1362T>A (p.Pro454=) c.729T>A (p.Pro243=) c.1092T>A (p.Pro364=) | |
| X | g.149483038G>A | CA414518251 | IDS | c.1361C>T (p.Pro454Leu) c.728C>T (p.Pro243Leu) c.1091C>T (p.Pro364Leu) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.149483038G>C | CA414518253 | IDS | c.1361C>G (p.Pro454Arg) c.728C>G (p.Pro243Arg) c.1091C>G (p.Pro364Arg) | |
| X | g.149483038G= | CA2465004025 | IDS | c.1361C= (p.Pro454=) c.728C= (p.Pro243=) c.1091C= (p.Pro364=) | |
| X | g.149483038G>T | CA414518252 | IDS | c.1361C>A (p.Pro454His) c.728C>A (p.Pro243His) c.1091C>A (p.Pro364His) | |
| X | g.149483040dup | CA337035529 | IDS | c.1361dup (p.Gly455TrpfsTer2) c.728dup (p.Gly244TrpfsTer2) c.1091dup (p.Gly365TrpfsTer2) | dbSNP |
| X | g.149483039G>A | CA10537455 | IDS | c.1360C>T (p.Pro454Ser) c.727C>T (p.Pro243Ser) c.1090C>T (p.Pro364Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149483039G>C | CA414518254 | IDS | c.1360C>G (p.Pro454Ala) c.727C>G (p.Pro243Ala) c.1090C>G (p.Pro364Ala) | |
| X | g.149483039G= | CA2465004026 | IDS | c.1360C= (p.Pro454=) c.727C= (p.Pro243=) c.1090C= (p.Pro364=) | |
| X | g.149483039G>T | CA414518255 | IDS | c.1360C>A (p.Pro454Thr) c.727C>A (p.Pro243Thr) c.1090C>A (p.Pro364Thr) | |
| X | g.149483040G>A | CA519173944 | IDS | c.1359C>T (p.Leu453=) c.726C>T (p.Leu242=) c.1089C>T (p.Leu363=) | |
| X | g.149483040G>C | CA519173945 | IDS | c.1359C>G (p.Leu453=) c.726C>G (p.Leu242=) c.1089C>G (p.Leu363=) | |
| X | g.149483040G>T | CA519173946 | IDS | c.1359C>A (p.Leu453=) c.726C>A (p.Leu242=) c.1089C>A (p.Leu363=) | |
| X | g.149483041A>C | CA414518256 | IDS | c.1358T>G (p.Leu453Arg) c.725T>G (p.Leu242Arg) c.1088T>G (p.Leu363Arg) | |
| X | g.149483041A>G | CA414518257 | IDS | c.1358T>C (p.Leu453Pro) c.725T>C (p.Leu242Pro) c.1088T>C (p.Leu363Pro) | |
| X | g.149483041A>T | CA414518258 | IDS | c.1358T>A (p.Leu453His) c.725T>A (p.Leu242His) c.1088T>A (p.Leu363His) | |
| X | g.149483041_149483046delinsAGGTAC | CA2465004027 | IDS | c.1353_1358delinsGTACCT (p.Pro451=) c.720_725delinsGTACCT (p.Pro240=) c.1083_1088delinsGTACCT (p.Pro361=) | |
| X | g.149483042G>A | CA414518259 | IDS | c.1357C>T (p.Leu453Phe) c.724C>T (p.Leu242Phe) c.1087C>T (p.Leu363Phe) | |
| X | g.149483042G>C | CA414518260 | IDS | c.1357C>G (p.Leu453Val) c.724C>G (p.Leu242Val) c.1087C>G (p.Leu363Val) | |
| X | g.149483042G>T | CA414518261 | IDS | c.1357C>A (p.Leu453Ile) c.724C>A (p.Leu242Ile) c.1087C>A (p.Leu363Ile) | |
| X | g.149483044_149483048del | CA2465004028 | IDS | c.1353_1357del (p.Tyr452ProfsTer3) c.720_724del (p.Tyr241ProfsTer3) c.1083_1087del (p.Tyr362ProfsTer3) | ClinVar dbSNP |
| X | g.149483043G>A | CA519173947 | IDS | c.1356C>T (p.Tyr452=) c.723C>T (p.Tyr241=) c.1086C>T (p.Tyr362=) | |
| X | g.149483043G>C | CA414518262 | IDS | c.1356C>G (p.Tyr452Ter) c.723C>G (p.Tyr241Ter) c.1086C>G (p.Tyr362Ter) | |
| X | g.149483043G>T | CA414518263 | IDS | c.1356C>A (p.Tyr452Ter) c.723C>A (p.Tyr241Ter) c.1086C>A (p.Tyr362Ter) | ClinVar |
| X | g.149483044T>A | CA414518266 | IDS | c.1355A>T (p.Tyr452Phe) c.722A>T (p.Tyr241Phe) c.1085A>T (p.Tyr362Phe) | |
| X | g.149483044T>C | CA414518264 | IDS | c.1355A>G (p.Tyr452Cys) c.722A>G (p.Tyr241Cys) c.1085A>G (p.Tyr362Cys) | |
| X | g.149483044T>G | CA414518265 | IDS | c.1355A>C (p.Tyr452Ser) c.722A>C (p.Tyr241Ser) c.1085A>C (p.Tyr362Ser) | |
| X | g.149483045A>C | CA414518267 | IDS | c.1354T>G (p.Tyr452Asp) c.721T>G (p.Tyr241Asp) c.1084T>G (p.Tyr362Asp) | |
| X | g.149483045A>G | CA414518268 | IDS | c.1354T>C (p.Tyr452His) c.721T>C (p.Tyr241His) c.1084T>C (p.Tyr362His) | COSMIC |
| X | g.149483045A>T | CA414518269 | IDS | c.1354T>A (p.Tyr452Asn) c.721T>A (p.Tyr241Asn) c.1084T>A (p.Tyr362Asn) | |
| X | g.149483046C>A | CA519173949 | IDS | c.1353G>T (p.Pro451=) c.720G>T (p.Pro240=) c.1083G>T (p.Pro361=) | |
| X | g.149483046C= | CA2465004029 | IDS | c.1353G= (p.Pro451=) c.720G= (p.Pro240=) c.1083G= (p.Pro361=) | |
| X | g.149483046C>G | CA337035530 | IDS | c.1353G>C (p.Pro451=) c.720G>C (p.Pro240=) c.1083G>C (p.Pro361=) | ClinVar dbSNP |
| X | g.149483046C>T | CA519173952 | IDS | c.1353G>A (p.Pro451=) c.720G>A (p.Pro240=) c.1083G>A (p.Pro361=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.149483047_149483048insATCG | CA2695236507 | IDS | c.1353_1354insATCG (p.Tyr452IlefsTer6) c.720_721insATCG (p.Tyr241IlefsTer6) c.1083_1084insATCG (p.Tyr362IlefsTer6) | |
| X | g.149483047G>A | CA10537456 | IDS | c.1352C>T (p.Pro451Leu) c.719C>T (p.Pro240Leu) c.1082C>T (p.Pro361Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.149483047G>C | CA10537457 | IDS | c.1352C>G (p.Pro451Arg) c.719C>G (p.Pro240Arg) c.1082C>G (p.Pro361Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149483047G= | CA2465004030 | IDS | c.1352C= (p.Pro451=) c.719C= (p.Pro240=) c.1082C= (p.Pro361=) | |
| X | g.149483047G>T | CA414518270 | IDS | c.1352C>A (p.Pro451Gln) c.719C>A (p.Pro240Gln) c.1082C>A (p.Pro361Gln) | |
| X | g.149483048G>A | CA414518271 | IDS | c.1351C>T (p.Pro451Ser) c.718C>T (p.Pro240Ser) c.1081C>T (p.Pro361Ser) | COSMIC |
| X | g.149483048G>C | CA414518272 | IDS | c.1351C>G (p.Pro451Ala) c.718C>G (p.Pro240Ala) c.1081C>G (p.Pro361Ala) | |
| X | g.149483048G>T | CA414518273 | IDS | c.1351C>A (p.Pro451Thr) c.718C>A (p.Pro240Thr) c.1081C>A (p.Pro361Thr) | |
| X | g.149483048_149483049delinsGA | CA2465004031 | IDS | c.1350_1351delinsTC (p.Asp450=) c.717_718delinsTC (p.Asp239=) c.1080_1081delinsTC (p.Asp360=) | |
| X | g.149483049del | CA916084006 | IDS | c.1350del (p.Pro451ArgfsTer10) c.717del (p.Pro240ArgfsTer10) c.1080del (p.Pro361ArgfsTer10) | ClinVar dbSNP |
| X | g.149483049A>C | CA414518274 | IDS | c.1350T>G (p.Asp450Glu) c.717T>G (p.Asp239Glu) c.1080T>G (p.Asp360Glu) | |
| X | g.149483049A>G | CA519173957 | IDS | c.1350T>C (p.Asp450=) c.717T>C (p.Asp239=) c.1080T>C (p.Asp360=) | |
| X | g.149483049A>T | CA414518275 | IDS | c.1350T>A (p.Asp450Glu) c.717T>A (p.Asp239Glu) c.1080T>A (p.Asp360Glu) | ClinVar dbSNP gnomAD v4 |
| X | g.149483050T>A | CA10537458 | IDS | c.1349A>T (p.Asp450Val) c.716A>T (p.Asp239Val) c.1079A>T (p.Asp360Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149483050T>C | CA414518277 | IDS | c.1349A>G (p.Asp450Gly) c.716A>G (p.Asp239Gly) c.1079A>G (p.Asp360Gly) | |
| X | g.149483050T>G | CA414518276 | IDS | c.1349A>C (p.Asp450Ala) c.716A>C (p.Asp239Ala) c.1079A>C (p.Asp360Ala) | |
| X | g.149483050T= | CA2465004032 | IDS | c.1349A= (p.Asp450=) c.716A= (p.Asp239=) c.1079A= (p.Asp360=) | |
| X | g.149483051_149483055del | CA2580101614 | IDS | c.1345_1349del (p.Glu449SerfsTer6) c.712_716del (p.Glu238SerfsTer6) c.1075_1079del (p.Glu359SerfsTer6) | ClinVar |
| X | g.149483051C>A | CA414518278 | IDS | c.1348G>T (p.Asp450Tyr) c.715G>T (p.Asp239Tyr) c.1078G>T (p.Asp360Tyr) | |
| X | g.149483051C>G | CA414518279 | IDS | c.1348G>C (p.Asp450His) c.715G>C (p.Asp239His) c.1078G>C (p.Asp360His) | |
| X | g.149483051C>T | CA414518280 | IDS | c.1348G>A (p.Asp450Asn) c.715G>A (p.Asp239Asn) c.1078G>A (p.Asp360Asn) | |
| X | g.149483052del | CA2695236508 | IDS | c.1348del (p.Asp450IlefsTer11) c.715del (p.Asp239IlefsTer11) c.1078del (p.Asp360IlefsTer11) | |
| X | g.149483052C>A | CA414518281 | IDS | c.1347G>T (p.Glu449Asp) c.714G>T (p.Glu238Asp) c.1077G>T (p.Glu359Asp) | |
| X | g.149483052C= | CA2465004033 | IDS | c.1347G= (p.Glu449=) c.714G= (p.Glu238=) c.1077G= (p.Glu359=) | |
| X | g.149483052C>G | CA414518282 | IDS | c.1347G>C (p.Glu449Asp) c.714G>C (p.Glu238Asp) c.1077G>C (p.Glu359Asp) | |
| X | g.149483052C>T | CA10537459 | IDS | c.1347G>A (p.Glu449=) c.714G>A (p.Glu238=) c.1077G>A (p.Glu359=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149483053T>A | CA414518285 | IDS | c.1346A>T (p.Glu449Val) c.713A>T (p.Glu238Val) c.1076A>T (p.Glu359Val) | |
| X | g.149483053T>C | CA414518283 | IDS | c.1346A>G (p.Glu449Gly) c.713A>G (p.Glu238Gly) c.1076A>G (p.Glu359Gly) | |
| X | g.149483053T>G | CA414518284 | IDS | c.1346A>C (p.Glu449Ala) c.713A>C (p.Glu238Ala) c.1076A>C (p.Glu359Ala) | |
| X | g.149483054C>A | CA414518286 | IDS | c.1345G>T (p.Glu449Ter) c.712G>T (p.Glu238Ter) c.1075G>T (p.Glu359Ter) | |
| X | g.149483054C>G | CA414518287 | IDS | c.1345G>C (p.Glu449Gln) c.712G>C (p.Glu238Gln) c.1075G>C (p.Glu359Gln) | |
| X | g.149483054C>T | CA414518288 | IDS | c.1345G>A (p.Glu449Lys) c.712G>A (p.Glu238Lys) c.1075G>A (p.Glu359Lys) | |
| X | g.149483055T>A | CA414518289 | IDS | c.1344A>T (p.Glu448Asp) c.711A>T (p.Glu237Asp) c.1074A>T (p.Glu358Asp) | |
| X | g.149483055T>C | CA519173962 | IDS | c.1344A>G (p.Glu448=) c.711A>G (p.Glu237=) c.1074A>G (p.Glu358=) | |
| X | g.149483055T>G | CA414518290 | IDS | c.1344A>C (p.Glu448Asp) c.711A>C (p.Glu237Asp) c.1074A>C (p.Glu358Asp) | |
| X | g.149483056del | CA2695236509 | IDS | c.1344del (p.Glu449ArgfsTer12) c.711del (p.Glu238ArgfsTer12) c.1074del (p.Glu359ArgfsTer12) | |
| X | g.149483056T>A | CA414518291 | IDS | c.1343A>T (p.Glu448Val) c.710A>T (p.Glu237Val) c.1073A>T (p.Glu358Val) | |
| X | g.149483056T>C | CA414518293 | IDS | c.1343A>G (p.Glu448Gly) c.710A>G (p.Glu237Gly) c.1073A>G (p.Glu358Gly) | |
| X | g.149483056T>G | CA414518292 | IDS | c.1343A>C (p.Glu448Ala) c.710A>C (p.Glu237Ala) c.1073A>C (p.Glu358Ala) | |
| X | g.149483056_149483058delinsCA | CA2739289614 | IDS | c.1341_1343delinsTG (p.Leu447PhefsTer14) c.708_710delinsTG (p.Leu236PhefsTer14) c.1071_1073delinsTG (p.Leu357PhefsTer14) | |
| X | g.149483057C>A | CA414518294 | IDS | c.1342G>T (p.Glu448Ter) c.709G>T (p.Glu237Ter) c.1072G>T (p.Glu358Ter) | |
| X | g.149483057C>G | CA414518295 | IDS | c.1342G>C (p.Glu448Gln) c.709G>C (p.Glu237Gln) c.1072G>C (p.Glu358Gln) | |
| X | g.149483057C>T | CA414518296 | IDS | c.1342G>A (p.Glu448Lys) c.709G>A (p.Glu237Lys) c.1072G>A (p.Glu358Lys) | COSMIC |
| X | g.149483057_149483058del | CA2535912108 | IDS | c.1341_1342del (p.Glu448ArgfsTer8) c.708_709del (p.Glu237ArgfsTer8) c.1071_1072del (p.Glu358ArgfsTer8) | |
| X | g.149483058C>A | CA414518297 | IDS | c.1341G>T (p.Leu447Phe) c.708G>T (p.Leu236Phe) c.1071G>T (p.Leu357Phe) | |
| X | g.149483058C>G | CA414518298 | IDS | c.1341G>C (p.Leu447Phe) c.708G>C (p.Leu236Phe) c.1071G>C (p.Leu357Phe) | |
| X | g.149483058C>T | CA519173965 | IDS | c.1341G>A (p.Leu447=) c.708G>A (p.Leu236=) c.1071G>A (p.Leu357=) | |
| X | g.149483059A= | CA2465004034 | IDS | c.1340T= (p.Leu447=) c.707T= (p.Leu236=) c.1070T= (p.Leu357=) | |
| X | g.149483059A>C | CA414518299 | IDS | c.1340T>G (p.Leu447Trp) c.707T>G (p.Leu236Trp) c.1070T>G (p.Leu357Trp) | |
| X | g.149483059A>G | CA414518300 | IDS | c.1340T>C (p.Leu447Ser) c.707T>C (p.Leu236Ser) c.1070T>C (p.Leu357Ser) | |
| X | g.149483059A>T | CA414518301 | IDS | c.1340T>A (p.Leu447Ter) c.707T>A (p.Leu236Ter) c.1070T>A (p.Leu357Ter) | ClinVar dbSNP |
| X | g.149483059_149483061dup | CA2694908956 | IDS | c.1338_1340dup (p.Asp446_Leu447insPhe) c.705_707dup (p.Asp235_Leu236insPhe) c.1068_1070dup (p.Asp356_Leu357insPhe) | gnomAD v4 |
| X | g.149483060A>C | CA414518302 | IDS | c.1339T>G (p.Leu447Val) c.706T>G (p.Leu236Val) c.1069T>G (p.Leu357Val) | |
| X | g.149483060A>G | CA519173967 | IDS | c.1339T>C (p.Leu447=) c.706T>C (p.Leu236=) c.1069T>C (p.Leu357=) | |
| X | g.149483060A>T | CA414518303 | IDS | c.1339T>A (p.Leu447Met) c.706T>A (p.Leu236Met) c.1069T>A (p.Leu357Met) | |
| X | g.149483062_149483084del | CA2511282242 | IDS | c.1317_1339del (p.Lys440GlyfsTer9) c.684_706del (p.Lys229GlyfsTer9) c.1047_1069del (p.Lys350GlyfsTer9) | |
| X | g.149483061G>A | CA519173969 | IDS | c.1338C>T (p.Asp446=) c.705C>T (p.Asp235=) c.1068C>T (p.Asp356=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.149483061G>C | CA414518304 | IDS | c.1338C>G (p.Asp446Glu) c.705C>G (p.Asp235Glu) c.1068C>G (p.Asp356Glu) | |
| X | g.149483061G= | CA2465004035 | IDS | c.1338C= (p.Asp446=) c.705C= (p.Asp235=) c.1068C= (p.Asp356=) | |
| X | g.149483061G>T | CA414518305 | IDS | c.1338C>A (p.Asp446Glu) c.705C>A (p.Asp235Glu) c.1068C>A (p.Asp356Glu) | |
| X | g.149483062T>A | CA414518308 | IDS | c.1337A>T (p.Asp446Val) c.704A>T (p.Asp235Val) c.1067A>T (p.Asp356Val) | |
| X | g.149483062T>C | CA414518307 | IDS | c.1337A>G (p.Asp446Gly) c.704A>G (p.Asp235Gly) c.1067A>G (p.Asp356Gly) | |
| X | g.149483062T>G | CA414518306 | IDS | c.1337A>C (p.Asp446Ala) c.704A>C (p.Asp235Ala) c.1067A>C (p.Asp356Ala) | |
| X | g.149483062dup | CA2695236511 | IDS | c.1337dup (p.Asp446GlufsTer11) c.704dup (p.Asp235GlufsTer11) c.1067dup (p.Asp356GlufsTer11) | |
| X | g.149483063C>A | CA414518309 | IDS | c.1336G>T (p.Asp446Tyr) c.703G>T (p.Asp235Tyr) c.1066G>T (p.Asp356Tyr) | COSMIC |
| X | g.149483063C>G | CA414518311 | IDS | c.1336G>C (p.Asp446His) c.703G>C (p.Asp235His) c.1066G>C (p.Asp356His) | |
| X | g.149483063C>T | CA414518310 | IDS | c.1336G>A (p.Asp446Asn) c.703G>A (p.Asp235Asn) c.1066G>A (p.Asp356Asn) | |
| X | g.149483064A= | CA2465004036 | IDS | c.1335T= (p.Arg445=) c.702T= (p.Arg234=) c.1065T= (p.Arg355=) | |
| X | g.149483064A>C | CA519173971 | IDS | c.1335T>G (p.Arg445=) c.702T>G (p.Arg234=) c.1065T>G (p.Arg355=) | |
| X | g.149483064A>G | CA519173973 | IDS | c.1335T>C (p.Arg445=) c.702T>C (p.Arg234=) c.1065T>C (p.Arg355=) | ClinVar dbSNP |
| X | g.149483064A>T | CA519173975 | IDS | c.1335T>A (p.Arg445=) c.702T>A (p.Arg234=) c.1065T>A (p.Arg355=) | |
| X | g.149483065C>A | CA10537461 | IDS | c.1334G>T (p.Arg445Leu) c.701G>T (p.Arg234Leu) c.1064G>T (p.Arg355Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149483065C= | CA2465004037 | IDS | c.1334G= (p.Arg445=) c.701G= (p.Arg234=) c.1064G= (p.Arg355=) | |
| X | g.149483065C>G | CA414518312 | IDS | c.1334G>C (p.Arg445Pro) c.701G>C (p.Arg234Pro) c.1064G>C (p.Arg355Pro) | |
| X | g.149483065C>T | CA10537460 | IDS | c.1334G>A (p.Arg445His) c.701G>A (p.Arg234His) c.1064G>A (p.Arg355His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149483066G>A | CA414518313 | IDS | c.1333C>T (p.Arg445Cys) c.700C>T (p.Arg234Cys) c.1063C>T (p.Arg355Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149483066G>C | CA414518314 | IDS | c.1333C>G (p.Arg445Gly) c.700C>G (p.Arg234Gly) c.1063C>G (p.Arg355Gly) | |
| X | g.149483066G= | CA2465004038 | IDS | c.1333C= (p.Arg445=) c.700C= (p.Arg234=) c.1063C= (p.Arg355=) | |
| X | g.149483066G>T | CA337035531 | IDS | c.1333C>A (p.Arg445Ser) c.700C>A (p.Arg234Ser) c.1063C>A (p.Arg355Ser) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.149483067G>A | CA519173978 | IDS | c.1332C>T (p.Phe444=) c.699C>T (p.Phe233=) c.1062C>T (p.Phe354=) | |
| X | g.149483067G>C | CA414518316 | IDS | c.1332C>G (p.Phe444Leu) c.699C>G (p.Phe233Leu) c.1062C>G (p.Phe354Leu) | |
| X | g.149483067G>T | CA414518315 | IDS | c.1332C>A (p.Phe444Leu) c.699C>A (p.Phe233Leu) c.1062C>A (p.Phe354Leu) | |
| X | g.149483068A= | CA2465004039 | IDS | c.1331T= (p.Phe444=) c.698T= (p.Phe233=) c.1061T= (p.Phe354=) | |
| X | g.149483068A>C | CA414518317 | IDS | c.1331T>G (p.Phe444Cys) c.698T>G (p.Phe233Cys) c.1061T>G (p.Phe354Cys) | |
| X | g.149483068A>G | CA414518318 | IDS | c.1331T>C (p.Phe444Ser) c.698T>C (p.Phe233Ser) c.1061T>C (p.Phe354Ser) | dbSNP |
| X | g.149483068A>T | CA414518319 | IDS | c.1331T>A (p.Phe444Tyr) c.698T>A (p.Phe233Tyr) c.1061T>A (p.Phe354Tyr) | |
| X | g.149483069A>C | CA414518320 | IDS | c.1330T>G (p.Phe444Val) c.697T>G (p.Phe233Val) c.1060T>G (p.Phe354Val) | |
| X | g.149483069A>G | CA414518321 | IDS | c.1330T>C (p.Phe444Leu) c.697T>C (p.Phe233Leu) c.1060T>C (p.Phe354Leu) | |
| X | g.149483069A>T | CA414518322 | IDS | c.1330T>A (p.Phe444Ile) c.697T>A (p.Phe233Ile) c.1060T>A (p.Phe354Ile) | |
| X | g.149483070T>A | CA519173980 | IDS | c.1329A>T (p.Arg443=) c.696A>T (p.Arg232=) c.1059A>T (p.Arg353=) | |
| X | g.149483070T>C | CA519173981 | IDS | c.1329A>G (p.Arg443=) c.696A>G (p.Arg232=) c.1059A>G (p.Arg353=) | |
| X | g.149483070T>G | CA519173982 | IDS | c.1329A>C (p.Arg443=) c.696A>C (p.Arg232=) c.1059A>C (p.Arg353=) | |
| X | g.149483071C>A | CA414518324 | IDS | c.1328G>T (p.Arg443Leu) c.695G>T (p.Arg232Leu) c.1058G>T (p.Arg353Leu) | dbSNP |
| X | g.149483071C= | CA2465004040 | IDS | c.1328G= (p.Arg443=) c.695G= (p.Arg232=) c.1058G= (p.Arg353=) | |
| X | g.149483071C>G | CA414518323 | IDS | c.1328G>C (p.Arg443Pro) c.695G>C (p.Arg232Pro) c.1058G>C (p.Arg353Pro) | |
| X | g.149483071C>T | CA337035532 | IDS | c.1328G>A (p.Arg443Gln) c.695G>A (p.Arg232Gln) c.1058G>A (p.Arg353Gln) | dbSNP gnomAD v4 |
| X | g.149483072G>A | CA340985 | IDS | c.1327C>T (p.Arg443Ter) c.694C>T (p.Arg232Ter) c.1057C>T (p.Arg353Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.149483072G>C | CA414518325 | IDS | c.1327C>G (p.Arg443Gly) c.694C>G (p.Arg232Gly) c.1057C>G (p.Arg353Gly) | ClinVar |
| X | g.149483072G= | CA2465004041 | IDS | c.1327C= (p.Arg443=) c.694C= (p.Arg232=) c.1057C= (p.Arg353=) | |
| X | g.149483072G>T | CA10537462 | IDS | c.1327C>A (p.Arg443=) c.694C>A (p.Arg232=) c.1057C>A (p.Arg353=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149483073A>C | CA414518326 | IDS | c.1326T>G (p.Phe442Leu) c.693T>G (p.Phe231Leu) c.1056T>G (p.Phe352Leu) | dbSNP |
| X | g.149483073A>G | CA519173984 | IDS | c.1326T>C (p.Phe442=) c.693T>C (p.Phe231=) c.1056T>C (p.Phe352=) | |
| X | g.149483073A>T | CA414518327 | IDS | c.1326T>A (p.Phe442Leu) c.693T>A (p.Phe231Leu) c.1056T>A (p.Phe352Leu) | |
| X | g.149483076dup | CA2695236513 | IDS | c.1326dup (p.Arg443SerfsTer4) c.693dup (p.Arg232SerfsTer4) c.1056dup (p.Arg353SerfsTer4) | |
| X | g.149483074A>C | CA414518328 | IDS | c.1325T>G (p.Phe442Cys) c.692T>G (p.Phe231Cys) c.1055T>G (p.Phe352Cys) | |
| X | g.149483074A>G | CA414518330 | IDS | c.1325T>C (p.Phe442Ser) c.692T>C (p.Phe231Ser) c.1055T>C (p.Phe352Ser) | |
| X | g.149483074A>T | CA414518331 | IDS | c.1325T>A (p.Phe442Tyr) c.692T>A (p.Phe231Tyr) c.1055T>A (p.Phe352Tyr) | |
| X | g.149483075A>C | CA414518333 | IDS | c.1324T>G (p.Phe442Val) c.691T>G (p.Phe231Val) c.1054T>G (p.Phe352Val) | |
| X | g.149483075A>G | CA414518334 | IDS | c.1324T>C (p.Phe442Leu) c.691T>C (p.Phe231Leu) c.1054T>C (p.Phe352Leu) | |
| X | g.149483075A>T | CA414518335 | IDS | c.1324T>A (p.Phe442Ile) c.691T>A (p.Phe231Ile) c.1054T>A (p.Phe352Ile) | |
| X | g.149483076A>C | CA414518336 | IDS | c.1323T>G (p.His441Gln) c.690T>G (p.His230Gln) c.1053T>G (p.His351Gln) | |
| X | g.149483076A>G | CA519173985 | IDS | c.1323T>C (p.His441=) c.690T>C (p.His230=) c.1053T>C (p.His351=) | |
| X | g.149483076A>T | CA414518337 | IDS | c.1323T>A (p.His441Gln) c.690T>A (p.His230Gln) c.1053T>A (p.His351Gln) | |
| X | g.149483077T>A | CA414518338 | IDS | c.1322A>T (p.His441Leu) c.689A>T (p.His230Leu) c.1052A>T (p.His351Leu) | |
| X | g.149483077T>C | CA414518340 | IDS | c.1322A>G (p.His441Arg) c.689A>G (p.His230Arg) c.1052A>G (p.His351Arg) | |
| X | g.149483077T>G | CA414518339 | IDS | c.1322A>C (p.His441Pro) c.689A>C (p.His230Pro) c.1052A>C (p.His351Pro) | |
| X | g.149483078G>A | CA414518341 | IDS | c.1321C>T (p.His441Tyr) c.688C>T (p.His230Tyr) c.1051C>T (p.His351Tyr) | |
| X | g.149483078G>C | CA414518342 | IDS | c.1321C>G (p.His441Asp) c.688C>G (p.His230Asp) c.1051C>G (p.His351Asp) | |
| X | g.149483078G>T | CA414518343 | IDS | c.1321C>A (p.His441Asn) c.688C>A (p.His230Asn) c.1051C>A (p.His351Asn) | |
| X | g.149483079C>A | CA414518344 | IDS | c.1320G>T (p.Lys440Asn) c.687G>T (p.Lys229Asn) c.1050G>T (p.Lys350Asn) | |
| X | g.149483079C>G | CA414518345 | IDS | c.1320G>C (p.Lys440Asn) c.687G>C (p.Lys229Asn) c.1050G>C (p.Lys350Asn) | |
| X | g.149483079C>T | CA519173986 | IDS | c.1320G>A (p.Lys440=) c.687G>A (p.Lys229=) c.1050G>A (p.Lys350=) | gnomAD v4 |
| X | g.149483080T>A | CA414518346 | IDS | c.1319A>T (p.Lys440Met) c.686A>T (p.Lys229Met) c.1049A>T (p.Lys350Met) | |
| X | g.149483080T>C | CA414518347 | IDS | c.1319A>G (p.Lys440Arg) c.686A>G (p.Lys229Arg) c.1049A>G (p.Lys350Arg) | |
| X | g.149483080T>G | CA414518348 | IDS | c.1319A>C (p.Lys440Thr) c.686A>C (p.Lys229Thr) c.1049A>C (p.Lys350Thr) | |
| X | g.149483081dup | CA2695236515 | IDS | c.1319dup (p.His441AlafsTer6) c.686dup (p.His230AlafsTer6) c.1049dup (p.His351AlafsTer6) | |
| X | g.149483081T>A | CA414518349 | IDS | c.1318A>T (p.Lys440Ter) c.685A>T (p.Lys229Ter) c.1048A>T (p.Lys350Ter) | |
| X | g.149483081T>C | CA414518350 | IDS | c.1318A>G (p.Lys440Glu) c.685A>G (p.Lys229Glu) c.1048A>G (p.Lys350Glu) | |
| X | g.149483081T>G | CA414518351 | IDS | c.1318A>C (p.Lys440Gln) c.685A>C (p.Lys229Gln) c.1048A>C (p.Lys350Gln) | |
| X | g.149483082del | CA2579719105 | IDS | c.1317del (p.Lys440SerfsTer21) c.684del (p.Lys229SerfsTer21) c.1047del (p.Lys350SerfsTer21) | |
| X | g.149483082C>A | CA519173988 | IDS | c.1317G>T (p.Leu439=) c.684G>T (p.Leu228=) c.1047G>T (p.Leu349=) | ClinVar |
| X | g.149483082C>G | CA519173989 | IDS | c.1317G>C (p.Leu439=) c.684G>C (p.Leu228=) c.1047G>C (p.Leu349=) | |
| X | g.149483082C>T | CA519173991 | IDS | c.1317G>A (p.Leu439=) c.684G>A (p.Leu228=) c.1047G>A (p.Leu349=) | |
| X | g.149483083del | CA2499226411 | IDS | c.1316del (p.Leu439ArgfsTer22) c.683del (p.Leu228ArgfsTer22) c.1046del (p.Leu349ArgfsTer22) | ClinVar dbSNP |
| X | g.149483083A>C | CA414518352 | IDS | c.1316T>G (p.Leu439Arg) c.683T>G (p.Leu228Arg) c.1046T>G (p.Leu349Arg) | |
| X | g.149483083A>G | CA414518353 | IDS | c.1316T>C (p.Leu439Pro) c.683T>C (p.Leu228Pro) c.1046T>C (p.Leu349Pro) | |
| X | g.149483083A>T | CA414518354 | IDS | c.1316T>A (p.Leu439Gln) c.683T>A (p.Leu228Gln) c.1046T>A (p.Leu349Gln) | |
| X | g.149483084G>A | CA519173992 | IDS | c.1315C>T (p.Leu439=) c.682C>T (p.Leu228=) c.1045C>T (p.Leu349=) | |
| X | g.149483084G>C | CA414518355 | IDS | c.1315C>G (p.Leu439Val) c.682C>G (p.Leu228Val) c.1045C>G (p.Leu349Val) | gnomAD v4 |
| X | g.149483084G>T | CA414518356 | IDS | c.1315C>A (p.Leu439Met) c.682C>A (p.Leu228Met) c.1045C>A (p.Leu349Met) | |
| X | g.149483085A>C | CA519173994 | IDS | c.1314T>G (p.Leu438=) c.681T>G (p.Leu227=) c.1044T>G (p.Leu348=) | |
| X | g.149483085A>G | CA519173996 | IDS | c.1314T>C (p.Leu438=) c.681T>C (p.Leu227=) c.1044T>C (p.Leu348=) | |
| X | g.149483085A>T | CA519173998 | IDS | c.1314T>A (p.Leu438=) c.681T>A (p.Leu227=) c.1044T>A (p.Leu348=) | |
| X | g.149483086A>C | CA414518357 | IDS | c.1313T>G (p.Leu438Arg) c.680T>G (p.Leu227Arg) c.1043T>G (p.Leu348Arg) | |
| X | g.149483086A>G | CA414518358 | IDS | c.1313T>C (p.Leu438Pro) c.680T>C (p.Leu227Pro) c.1043T>C (p.Leu348Pro) | |
| X | g.149483086A>T | CA414518359 | IDS | c.1313T>A (p.Leu438His) c.680T>A (p.Leu227His) c.1043T>A (p.Leu348His) | |
| X | g.149483087G>A | CA414518360 | IDS | c.1312C>T (p.Leu438Phe) c.679C>T (p.Leu227Phe) c.1042C>T (p.Leu348Phe) | gnomAD v4 |
| X | g.149483087G>C | CA414518361 | IDS | c.1312C>G (p.Leu438Val) c.679C>G (p.Leu227Val) c.1042C>G (p.Leu348Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149483087G= | CA2465004042 | IDS | c.1312C= (p.Leu438=) c.679C= (p.Leu227=) c.1042C= (p.Leu348=) | |
| X | g.149483087G>T | CA414518362 | IDS | c.1312C>A (p.Leu438Ile) c.679C>A (p.Leu227Ile) c.1042C>A (p.Leu348Ile) | |
| X | g.149483088del | CA2695236516 | IDS | c.1312del (p.Leu438PhefsTer2) c.679del (p.Leu227PhefsTer2) c.1042del (p.Leu348PhefsTer2) | |
| X | g.149483088G>A | CA519174000 | IDS | c.1311C>T (p.Asn437=) c.678C>T (p.Asn226=) c.1041C>T (p.Asn347=) | |
| X | g.149483088G>C | CA414518363 | IDS | c.1311C>G (p.Asn437Lys) c.678C>G (p.Asn226Lys) c.1041C>G (p.Asn347Lys) | |
| X | g.149483088G= | CA2465004043 | IDS | c.1311C= (p.Asn437=) c.678C= (p.Asn226=) c.1041C= (p.Asn347=) | |
| X | g.149483088G>T | CA414518364 | IDS | c.1311C>A (p.Asn437Lys) c.678C>A (p.Asn226Lys) c.1041C>A (p.Asn347Lys) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.149483089T>A | CA414518365 | IDS | c.1310A>T (p.Asn437Ile) c.677A>T (p.Asn226Ile) c.1040A>T (p.Asn347Ile) | |
| X | g.149483089T>C | CA414518366 | IDS | c.1310A>G (p.Asn437Ser) c.677A>G (p.Asn226Ser) c.1040A>G (p.Asn347Ser) | |
| X | g.149483089T>G | CA414518367 | IDS | c.1310A>C (p.Asn437Thr) c.677A>C (p.Asn226Thr) c.1040A>C (p.Asn347Thr) | |
| X | g.149483090T>A | CA414518368 | IDS | c.1309A>T (p.Asn437Tyr) c.676A>T (p.Asn226Tyr) n.416A>T c.1039A>T (p.Asn347Tyr) | |
| X | g.149483090T>C | CA414518370 | IDS | c.1309A>G (p.Asn437Asp) c.676A>G (p.Asn226Asp) n.416A>G c.1039A>G (p.Asn347Asp) | |
| X | g.149483090T>G | CA414518369 | IDS | c.1309A>C (p.Asn437His) c.676A>C (p.Asn226His) n.416A>C c.1039A>C (p.Asn347His) | |
| X | g.149483091C>A | CA414518371 | IDS | c.1308G>T (p.Lys436Asn) c.675G>T (p.Lys225Asn) n.415G>T c.1038G>T (p.Lys346Asn) | |
| X | g.149483091C>G | CA414518372 | IDS | c.1308G>C (p.Lys436Asn) c.675G>C (p.Lys225Asn) n.415G>C c.1038G>C (p.Lys346Asn) | |
| X | g.149483091C>T | CA519174004 | IDS | c.1308G>A (p.Lys436=) c.675G>A (p.Lys225=) n.415G>A c.1038G>A (p.Lys346=) | |
| X | g.149483092T>A | CA414518373 | IDS | c.1307A>T (p.Lys436Met) c.674A>T (p.Lys225Met) n.414A>T c.1037A>T (p.Lys346Met) | |
| X | g.149483092T>C | CA414518374 | IDS | c.1307A>G (p.Lys436Arg) c.674A>G (p.Lys225Arg) n.414A>G c.1037A>G (p.Lys346Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149483092T>G | CA414518375 | IDS | c.1307A>C (p.Lys436Thr) c.674A>C (p.Lys225Thr) n.414A>C c.1037A>C (p.Lys346Thr) | |
| X | g.149483092T= | CA2465004044 | IDS | c.1307A= (p.Lys436=) c.674A= (p.Lys225=) n.414A= c.1037A= (p.Lys346=) | |
| X | g.149483093T>A | CA414518376 | IDS | c.1306A>T (p.Lys436Ter) c.673A>T (p.Lys225Ter) n.413A>T c.1036A>T (p.Lys346Ter) | |
| X | g.149483093T>C | CA414518377 | IDS | c.1306A>G (p.Lys436Glu) c.673A>G (p.Lys225Glu) n.413A>G c.1036A>G (p.Lys346Glu) | |
| X | g.149483093T>G | CA414518378 | IDS | c.1306A>C (p.Lys436Gln) c.673A>C (p.Lys225Gln) n.413A>C c.1036A>C (p.Lys346Gln) | |
| X | g.149483094_149483100dup | CA2695236517 | IDS | c.1300_1306dup (p.Lys436ArgfsTer13) c.667_673dup (p.Lys225ArgfsTer13) n.407_413dup c.1030_1036dup (p.Lys346ArgfsTer13) | |
| X | g.149483096_149483104del | CA2695236518 | IDS | c.1298_1306del (p.Arg433_Gly435del) c.665_673del (p.Arg222_Gly224del) n.405_413del c.1028_1036del (p.Arg343_Gly345del) | |
| X | g.149483094G>A | CA519174010 | IDS | c.1305C>T (p.Gly435=) c.672C>T (p.Gly224=) n.412C>T c.1035C>T (p.Gly345=) | dbSNP |
| X | g.149483094G>C | CA519174011 | IDS | c.1305C>G (p.Gly435=) c.672C>G (p.Gly224=) n.412C>G c.1035C>G (p.Gly345=) | |
| X | g.149483094G>T | CA519174012 | IDS | c.1305C>A (p.Gly435=) c.672C>A (p.Gly224=) n.412C>A c.1035C>A (p.Gly345=) | |
| X | g.149483095C>A | CA414518379 | IDS | c.1304G>T (p.Gly435Val) c.671G>T (p.Gly224Val) n.411G>T c.1034G>T (p.Gly345Val) | |
| X | g.149483095C>G | CA414518380 | IDS | c.1304G>C (p.Gly435Ala) c.671G>C (p.Gly224Ala) n.411G>C c.1034G>C (p.Gly345Ala) | |
| X | g.149483095C>T | CA414518381 | IDS | c.1304G>A (p.Gly435Asp) c.671G>A (p.Gly224Asp) n.411G>A c.1034G>A (p.Gly345Asp) | gnomAD v4 |
| X | g.149483096C>A | CA414518382 | IDS | c.1303G>T (p.Gly435Cys) c.670G>T (p.Gly224Cys) n.410G>T c.1033G>T (p.Gly345Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.149483096C= | CA2465004045 | IDS | c.1303G= (p.Gly435=) c.670G= (p.Gly224=) n.410G= c.1033G= (p.Gly345=) | |
| X | g.149483096C>G | CA414518383 | IDS | c.1303G>C (p.Gly435Arg) c.670G>C (p.Gly224Arg) n.410G>C c.1033G>C (p.Gly345Arg) | |
| X | g.149483096C>T | CA414518384 | IDS | c.1303G>A (p.Gly435Ser) c.670G>A (p.Gly224Ser) n.410G>A c.1033G>A (p.Gly345Ser) | |
| X | g.149483097T>A | CA414518386 | IDS | c.1302A>T (p.Glu434Asp) c.669A>T (p.Glu223Asp) n.409A>T c.1032A>T (p.Glu344Asp) | gnomAD v4 |
| X | g.149483097T>C | CA519174016 | IDS | c.1302A>G (p.Glu434=) c.669A>G (p.Glu223=) n.409A>G c.1032A>G (p.Glu344=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.149483097T>G | CA414518385 | IDS | c.1302A>C (p.Glu434Asp) c.669A>C (p.Glu223Asp) n.409A>C c.1032A>C (p.Glu344Asp) | |
| X | g.149483097T= | CA2465004046 | IDS | c.1302A= (p.Glu434=) c.669A= (p.Glu223=) n.409A= c.1032A= (p.Glu344=) | |
| X | g.149483098T>A | CA414518387 | IDS | c.1301A>T (p.Glu434Val) c.668A>T (p.Glu223Val) n.408A>T c.1031A>T (p.Glu344Val) | |
| X | g.149483098T>C | CA414518388 | IDS | c.1301A>G (p.Glu434Gly) c.668A>G (p.Glu223Gly) n.408A>G c.1031A>G (p.Glu344Gly) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.149483098T>G | CA414518389 | IDS | c.1301A>C (p.Glu434Ala) c.668A>C (p.Glu223Ala) n.408A>C c.1031A>C (p.Glu344Ala) | |
| X | g.149483098T= | CA2465004047 | IDS | c.1301A= (p.Glu434=) c.668A= (p.Glu223=) n.408A= c.1031A= (p.Glu344=) | |
| X | g.149483099C>A | CA414518390 | IDS | c.1300G>T (p.Glu434Ter) c.667G>T (p.Glu223Ter) n.407G>T c.1030G>T (p.Glu344Ter) | |
| X | g.149483099C>G | CA414518391 | IDS | c.1300G>C (p.Glu434Gln) c.667G>C (p.Glu223Gln) n.407G>C c.1030G>C (p.Glu344Gln) | |
| X | g.149483099C>T | CA414518392 | IDS | c.1300G>A (p.Glu434Lys) c.667G>A (p.Glu223Lys) n.407G>A c.1030G>A (p.Glu344Lys) | ClinVar |
| X | g.149483100T>A | CA414518393 | IDS | c.1299A>T (p.Arg433Ser) c.666A>T (p.Arg222Ser) n.406A>T c.1029A>T (p.Arg343Ser) | |
| X | g.149483100T>C | CA519174025 | IDS | c.1299A>G (p.Arg433=) c.666A>G (p.Arg222=) n.406A>G c.1029A>G (p.Arg343=) | |
| X | g.149483100T>G | CA414518394 | IDS | c.1299A>C (p.Arg433Ser) c.666A>C (p.Arg222Ser) n.406A>C c.1029A>C (p.Arg343Ser) | |
| X | g.149483101C>A | CA414518395 | IDS | c.1298G>T (p.Arg433Ile) c.665G>T (p.Arg222Ile) n.405G>T c.1028G>T (p.Arg343Ile) | |
| X | g.149483101C>G | CA414518396 | IDS | c.1298G>C (p.Arg433Thr) c.665G>C (p.Arg222Thr) n.405G>C c.1028G>C (p.Arg343Thr) | |
| X | g.149483101C>T | CA414518397 | IDS | c.1298G>A (p.Arg433Lys) c.665G>A (p.Arg222Lys) n.405G>A c.1028G>A (p.Arg343Lys) | gnomAD v4 |
| X | g.149483102_149483106dup | CA2695236519 | IDS | c.1294_1298dup (p.Arg433SerfsTer9) c.661_665dup (p.Arg222SerfsTer9) n.401_405dup c.1024_1028dup (p.Arg343SerfsTer9) | |
| X | g.149483102T>A | CA414518398 | IDS | c.1297A>T (p.Arg433Ter) c.664A>T (p.Arg222Ter) n.404A>T c.1027A>T (p.Arg343Ter) | |
| X | g.149483102T>C | CA414518399 | IDS | c.1297A>G (p.Arg433Gly) c.664A>G (p.Arg222Gly) n.404A>G c.1027A>G (p.Arg343Gly) | ClinVar dbSNP gnomAD v4 |
| X | g.149483102T>G | CA519174026 | IDS | c.1297A>C (p.Arg433=) c.664A>C (p.Arg222=) n.404A>C c.1027A>C (p.Arg343=) | |
| X | g.149483102T= | CA2465004048 | IDS | c.1297A= (p.Arg433=) c.664A= (p.Arg222=) n.404A= c.1027A= (p.Arg343=) | |
| X | g.149483103G>A | CA519174027 | IDS | c.1296C>T (p.Cys432=) c.663C>T (p.Cys221=) n.403C>T c.1026C>T (p.Cys342=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.149483103G>C | CA414518400 | IDS | c.1296C>G (p.Cys432Trp) c.663C>G (p.Cys221Trp) n.403C>G c.1026C>G (p.Cys342Trp) | |
| X | g.149483103G= | CA2465004049 | IDS | c.1296C= (p.Cys432=) c.663C= (p.Cys221=) n.403C= c.1026C= (p.Cys342=) | |
| X | g.149483103G>T | CA414518401 | IDS | c.1296C>A (p.Cys432Ter) c.663C>A (p.Cys221Ter) n.403C>A c.1026C>A (p.Cys342Ter) | |
| X | g.149483104C>A | CA414518402 | IDS | c.1295G>T (p.Cys432Phe) c.662G>T (p.Cys221Phe) n.402G>T c.1025G>T (p.Cys342Phe) | ClinVar |
| X | g.149483104C>G | CA414518403 | IDS | c.1295G>C (p.Cys432Ser) c.662G>C (p.Cys221Ser) n.402G>C c.1025G>C (p.Cys342Ser) | |
| X | g.149483104C>T | CA414518404 | IDS | c.1295G>A (p.Cys432Tyr) c.662G>A (p.Cys221Tyr) n.402G>A c.1025G>A (p.Cys342Tyr) | |
| X | g.149483106_149483107dup | CA2695236520 | IDS | c.1294_1295dup (p.Arg433AlafsTer8) c.661_662dup (p.Arg222AlafsTer8) n.401_402dup c.1024_1025dup (p.Arg343AlafsTer8) | |
| X | g.149483105A>C | CA414518405 | IDS | c.1294T>G (p.Cys432Gly) c.661T>G (p.Cys221Gly) n.401T>G c.1024T>G (p.Cys342Gly) | |
| X | g.149483105A>G | CA414518406 | IDS | c.1294T>C (p.Cys432Arg) c.661T>C (p.Cys221Arg) n.401T>C c.1024T>C (p.Cys342Arg) | |
| X | g.149483105A>T | CA414518407 | IDS | c.1294T>A (p.Cys432Ser) c.661T>A (p.Cys221Ser) n.401T>A c.1024T>A (p.Cys342Ser) | |
| X | g.149483106C>A | CA519174032 | IDS | c.1293G>T (p.Leu431=) c.660G>T (p.Leu220=) n.400G>T c.1023G>T (p.Leu341=) | |
| X | g.149483106C= | CA2465004050 | IDS | c.1293G= (p.Leu431=) c.660G= (p.Leu220=) n.400G= c.1023G= (p.Leu341=) | |
| X | g.149483106C>G | CA10537463 | IDS | c.1293G>C (p.Leu431=) c.660G>C (p.Leu220=) n.400G>C c.1023G>C (p.Leu341=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149483106C>T | CA519174033 | IDS | c.1293G>A (p.Leu431=) c.660G>A (p.Leu220=) n.400G>A c.1023G>A (p.Leu341=) | ClinVar dbSNP gnomAD v4 |
| X | g.149483107A>C | CA414518408 | IDS | c.1292T>G (p.Leu431Arg) c.659T>G (p.Leu220Arg) n.399T>G c.1022T>G (p.Leu341Arg) | |
| X | g.149483107A>G | CA414518409 | IDS | c.1292T>C (p.Leu431Pro) c.659T>C (p.Leu220Pro) n.399T>C c.1022T>C (p.Leu341Pro) | |
| X | g.149483107A>T | CA414518410 | IDS | c.1292T>A (p.Leu431Gln) c.659T>A (p.Leu220Gln) n.399T>A c.1022T>A (p.Leu341Gln) | |
| X | g.149483108G>A | CA519174037 | IDS | c.1291C>T (p.Leu431=) c.658C>T (p.Leu220=) n.398C>T c.1021C>T (p.Leu341=) | |
| X | g.149483108G>C | CA414518411 | IDS | c.1291C>G (p.Leu431Val) c.658C>G (p.Leu220Val) n.398C>G c.1021C>G (p.Leu341Val) | |
| X | g.149483108G>T | CA414518412 | IDS | c.1291C>A (p.Leu431Met) c.658C>A (p.Leu220Met) n.398C>A c.1021C>A (p.Leu341Met) | |
| X | g.149483109C>A | CA414518414 | IDS | c.1290G>T (p.Glu430Asp) c.657G>T (p.Glu219Asp) n.397G>T c.1020G>T (p.Glu340Asp) | |
| X | g.149483109C= | CA2465004051 | IDS | c.1290G= (p.Glu430=) c.657G= (p.Glu219=) n.397G= c.1020G= (p.Glu340=) | |
| X | g.149483109C>G | CA414518413 | IDS | c.1290G>C (p.Glu430Asp) c.657G>C (p.Glu219Asp) n.397G>C c.1020G>C (p.Glu340Asp) | |
| X | g.149483109C>T | CA10537464 | IDS | c.1290G>A (p.Glu430=) c.657G>A (p.Glu219=) n.397G>A c.1020G>A (p.Glu340=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149483110T>A | CA414518415 | IDS | c.1289A>T (p.Glu430Val) c.656A>T (p.Glu219Val) n.396A>T c.1019A>T (p.Glu340Val) | |
| X | g.149483110T>C | CA414518416 | IDS | c.1289A>G (p.Glu430Gly) c.656A>G (p.Glu219Gly) n.396A>G c.1019A>G (p.Glu340Gly) | |
| X | g.149483110T>G | CA414518417 | IDS | c.1289A>C (p.Glu430Ala) c.656A>C (p.Glu219Ala) n.396A>C c.1019A>C (p.Glu340Ala) | |
| X | g.149483111C>A | CA414518418 | IDS | c.1288G>T (p.Glu430Ter) c.655G>T (p.Glu219Ter) n.395G>T c.1018G>T (p.Glu340Ter) | |
| X | g.149483111C>G | CA414518419 | IDS | c.1288G>C (p.Glu430Gln) c.655G>C (p.Glu219Gln) n.395G>C c.1018G>C (p.Glu340Gln) | |
| X | g.149483111C>T | CA414518420 | IDS | c.1288G>A (p.Glu430Lys) c.655G>A (p.Glu219Lys) n.395G>A c.1018G>A (p.Glu340Lys) | |
| X | g.149483112A>C | CA519174041 | IDS | c.1287T>G (p.Val429=) c.654T>G (p.Val218=) n.394T>G c.1017T>G (p.Val339=) | gnomAD v4 |
| X | g.149483112A>G | CA519174043 | IDS | c.1287T>C (p.Val429=) c.654T>C (p.Val218=) n.394T>C c.1017T>C (p.Val339=) | |
| X | g.149483112A>T | CA519174044 | IDS | c.1287T>A (p.Val429=) c.654T>A (p.Val218=) n.394T>A c.1017T>A (p.Val339=) | |
| X | g.149483113A>C | CA414518421 | IDS | c.1286T>G (p.Val429Gly) c.653T>G (p.Val218Gly) n.393T>G c.1016T>G (p.Val339Gly) | |
| X | g.149483113A>G | CA414518422 | IDS | c.1286T>C (p.Val429Ala) c.653T>C (p.Val218Ala) n.393T>C c.1016T>C (p.Val339Ala) | |
| X | g.149483113A>T | CA414518423 | IDS | c.1286T>A (p.Val429Asp) c.653T>A (p.Val218Asp) n.393T>A c.1016T>A (p.Val339Asp) | |
| X | g.149483114C>A | CA414518424 | IDS | c.1285G>T (p.Val429Phe) c.652G>T (p.Val218Phe) n.392G>T c.1015G>T (p.Val339Phe) | |
| X | g.149483114C= | CA2465004052 | IDS | c.1285G= (p.Val429=) c.652G= (p.Val218=) n.392G= c.1015G= (p.Val339=) | |
| X | g.149483114C>G | CA414518425 | IDS | c.1285G>C (p.Val429Leu) c.652G>C (p.Val218Leu) n.392G>C c.1015G>C (p.Val339Leu) | |
| X | g.149483114C>T | CA10537465 | IDS | c.1285G>A (p.Val429Ile) c.652G>A (p.Val218Ile) n.392G>A c.1015G>A (p.Val339Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.149483115G>A | CA10537466 | IDS | c.1284C>T (p.His428=) c.651C>T (p.His217=) n.391C>T c.1014C>T (p.His338=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149483115G>C | CA414518427 | IDS | c.1284C>G (p.His428Gln) c.651C>G (p.His217Gln) n.391C>G c.1014C>G (p.His338Gln) | |
| X | g.149483115G= | CA2465004053 | IDS | c.1284C= (p.His428=) c.651C= (p.His217=) n.391C= c.1014C= (p.His338=) | |
| X | g.149483115G>T | CA414518426 | IDS | c.1284C>A (p.His428Gln) c.651C>A (p.His217Gln) n.391C>A c.1014C>A (p.His338Gln) | |
| X | g.149483116_149483117del | CA2739289615 | IDS | c.1283_1284del (p.His428ArgfsTer2) c.650_651del (p.His217ArgfsTer2) n.390_391del c.1013_1014del (p.His338ArgfsTer2) | |
| X | g.149483116T>A | CA414518429 | IDS | c.1283A>T (p.His428Leu) c.650A>T (p.His217Leu) n.390A>T c.1013A>T (p.His338Leu) | COSMIC |
| X | g.149483116T>C | CA414518428 | IDS | c.1283A>G (p.His428Arg) c.650A>G (p.His217Arg) n.390A>G c.1013A>G (p.His338Arg) | |
| X | g.149483116T>G | CA414518430 | IDS | c.1283A>C (p.His428Pro) c.650A>C (p.His217Pro) n.390A>C c.1013A>C (p.His338Pro) | |
| X | g.149483117G>A | CA414518431 | IDS | c.1282C>T (p.His428Tyr) c.649C>T (p.His217Tyr) n.389C>T c.1012C>T (p.His338Tyr) | |
| X | g.149483117G>C | CA414518432 | IDS | c.1282C>G (p.His428Asp) c.649C>G (p.His217Asp) n.389C>G c.1012C>G (p.His338Asp) | |
| X | g.149483117G>T | CA414518433 | IDS | c.1282C>A (p.His428Asn) c.649C>A (p.His217Asn) n.389C>A c.1012C>A (p.His338Asn) |