Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.80108679_80116948del | CA913184754 | GAA | c.1195-18_2190-20del c.1195-18_*328-20del | |
17 | g.80108678_80116951del | CA658795244 | GAA | c.1195-19_2190-17del c.1195-19_*328-17del | ClinVar |
17 | g.80108727_80108744del | CA2734102231 | GAA | c.1225_1242del (p.Asp409_Phe414del) | dbSNP |
17 | g.80108736_80108738dup | CA2573154959 | GAA | c.1234_1236dup (p.Arg412_Asp413insArg) | ClinVar dbSNP |
17 | g.80108737G>A | CA294892536 | GAA | c.1235G>A (p.Arg412Lys) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108737G>C | CA401365239 | GAA | c.1235G>C (p.Arg412Thr) | |
17 | g.80108737G= | CA2277812948 | GAA | c.1235G= (p.Arg412=) | |
17 | g.80108737G>T | CA401365240 | GAA | c.1235G>T (p.Arg412Met) | |
17 | g.80108745_80108774del | CA2695227083 | GAA | c.1243_1272del (p.Thr415_Phe424del) | |
17 | g.80108738G>A | CA502402510 | GAA | c.1236G>A (p.Arg412=) | ClinVar |
17 | g.80108738G>C | CA401365241 | GAA | c.1236G>C (p.Arg412Ser) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108738G= | CA2277812949 | GAA | c.1236G= (p.Arg412=) | |
17 | g.80108738G>T | CA401365242 | GAA | c.1236G>T (p.Arg412Ser) | |
17 | g.80108739G>A | CA401365243 | GAA | c.1237G>A (p.Asp413Asn) | |
17 | g.80108739G>C | CA401365244 | GAA | c.1237G>C (p.Asp413His) | |
17 | g.80108739G>T | CA401365245 | GAA | c.1237G>T (p.Asp413Tyr) | |
17 | g.80108740A>C | CA401365246 | GAA | c.1238A>C (p.Asp413Ala) | |
17 | g.80108740A>G | CA401365247 | GAA | c.1238A>G (p.Asp413Gly) | |
17 | g.80108740A>T | CA401365248 | GAA | c.1238A>T (p.Asp413Val) | |
17 | g.80108741C>A | CA401365249 | GAA | c.1239C>A (p.Asp413Glu) | |
17 | g.80108741C= | CA2277812950 | GAA | c.1239C= (p.Asp413=) | |
17 | g.80108741C>G | CA401365250 | GAA | c.1239C>G (p.Asp413Glu) | ClinVar |
17 | g.80108741C>T | CA502402520 | GAA | c.1239C>T (p.Asp413=) | ClinVar dbSNP gnomAD v4 |
17 | g.80108742T>A | CA401365251 | GAA | c.1240T>A (p.Phe414Ile) | |
17 | g.80108742T>C | CA10604498 | GAA | c.1240T>C (p.Phe414Leu) | ClinVar dbSNP |
17 | g.80108742T>G | CA401365252 | GAA | c.1240T>G (p.Phe414Val) | |
17 | g.80108742T= | CA2277812951 | GAA | c.1240T= (p.Phe414=) | |
17 | g.80108743del | CA913184736 | GAA | c.1241del (p.Phe414SerfsTer26) | ClinVar |
17 | g.80108743T>A | CA401365253 | GAA | c.1241T>A (p.Phe414Tyr) | |
17 | g.80108743T>C | CA401365254 | GAA | c.1241T>C (p.Phe414Ser) | |
17 | g.80108743T>G | CA401365255 | GAA | c.1241T>G (p.Phe414Cys) | |
17 | g.80108743_80108746del | CA913014094 | GAA | c.1241_1244del (p.Phe414CysfsTer25) | |
17 | g.80108743_80108746delinsTCAC | CA2277812952 | GAA | c.1241_1244delinsTCAC (p.Phe414=) | |
17 | g.80108744C>A | CA401365256 | GAA | c.1242C>A (p.Phe414Leu) | |
17 | g.80108744C>G | CA401365257 | GAA | c.1242C>G (p.Phe414Leu) | |
17 | g.80108744C>T | CA502402530 | GAA | c.1242C>T (p.Phe414=) | |
17 | g.80108744_80108746del | CA658824781 | GAA | c.1242_1244del (p.Phe414_Thr415delinsLeu) | ClinVar dbSNP |
17 | g.80108745_80108746del | CA2580095334 | GAA | c.1243_1244del (p.Thr415ValfsTer?) | ClinVar |
17 | g.80108745A= | CA2277812953 | GAA | c.1243A= (p.Thr415=) | |
17 | g.80108745A>C | CA401365258 | GAA | c.1243A>C (p.Thr415Pro) | |
17 | g.80108745A>G | CA401365259 | GAA | c.1243A>G (p.Thr415Ala) | dbSNP gnomAD v4 |
17 | g.80108745A>T | CA401365260 | GAA | c.1243A>T (p.Thr415Ser) | |
17 | g.80108746C>A | CA401365262 | GAA | c.1244C>A (p.Thr415Lys) | |
17 | g.80108746C= | CA2277812954 | GAA | c.1244C= (p.Thr415=) | |
17 | g.80108746C>G | CA401365261 | GAA | c.1244C>G (p.Thr415Arg) | |
17 | g.80108746C>T | CA294892544 | GAA | c.1244C>T (p.Thr415Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108747G>A | CA8815242 | GAA | c.1245G>A (p.Thr415=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108747G>C | CA502402535 | GAA | c.1245G>C (p.Thr415=) | |
17 | g.80108747G= | CA2277812955 | GAA | c.1245G= (p.Thr415=) | |
17 | g.80108747G>T | CA502402536 | GAA | c.1245G>T (p.Thr415=) | dbSNP gnomAD v4 |
17 | g.80108748T>A | CA401365263 | GAA | c.1246T>A (p.Phe416Ile) | |
17 | g.80108748T>C | CA401365264 | GAA | c.1246T>C (p.Phe416Leu) | |
17 | g.80108748T>G | CA401365265 | GAA | c.1246T>G (p.Phe416Val) | ClinVar |
17 | g.80108749T>A | CA401365266 | GAA | c.1247T>A (p.Phe416Tyr) | |
17 | g.80108749T>C | CA401365267 | GAA | c.1247T>C (p.Phe416Ser) | |
17 | g.80108749T>G | CA401365268 | GAA | c.1247T>G (p.Phe416Cys) | |
17 | g.80108750C>A | CA401365269 | GAA | c.1248C>A (p.Phe416Leu) | |
17 | g.80108750C= | CA2277812956 | GAA | c.1248C= (p.Phe416=) | |
17 | g.80108750C>G | CA401365270 | GAA | c.1248C>G (p.Phe416Leu) | |
17 | g.80108750C>T | CA502402544 | GAA | c.1248C>T (p.Phe416=) | dbSNP |
17 | g.80108751A>C | CA401365271 | GAA | c.1249A>C (p.Asn417His) | |
17 | g.80108751A>G | CA401365272 | GAA | c.1249A>G (p.Asn417Asp) | |
17 | g.80108751A>T | CA401365273 | GAA | c.1249A>T (p.Asn417Tyr) | |
17 | g.80108752A>C | CA401365274 | GAA | c.1250A>C (p.Asn417Thr) | |
17 | g.80108752A>G | CA401365275 | GAA | c.1250A>G (p.Asn417Ser) | |
17 | g.80108752A>T | CA401365276 | GAA | c.1250A>T (p.Asn417Ile) | |
17 | g.80108753C>A | CA401365277 | GAA | c.1251C>A (p.Asn417Lys) | |
17 | g.80108753C= | CA2277812957 | GAA | c.1251C= (p.Asn417=) | |
17 | g.80108753C>G | CA401365278 | GAA | c.1251C>G (p.Asn417Lys) | dbSNP gnomAD v2 |
17 | g.80108753C>T | CA502402549 | GAA | c.1251C>T (p.Asn417=) | ClinVar |
17 | g.80108754A>C | CA401365279 | GAA | c.1252A>C (p.Lys418Gln) | |
17 | g.80108754A>G | CA401365280 | GAA | c.1252A>G (p.Lys418Glu) | ClinVar |
17 | g.80108754A>T | CA401365281 | GAA | c.1252A>T (p.Lys418Ter) | |
17 | g.80108754_80108787delinsAAGGATGGCTTCCGGGACTTCCCGGCCATGGTGC | CA2277812958 | GAA | c.1252_1285delinsAAGGATGGCTTCCGGGACTTCCCGGCCATGGTGC (p.Lys418=) | |
17 | g.80108755A= | CA2277812959 | GAA | c.1253A= (p.Lys418=) | |
17 | g.80108755A>C | CA401365282 | GAA | c.1253A>C (p.Lys418Thr) | |
17 | g.80108755A>G | CA401365283 | GAA | c.1253A>G (p.Lys418Arg) | ClinVar dbSNP gnomAD v4 |
17 | g.80108755A>T | CA401365284 | GAA | c.1253A>T (p.Lys418Met) | |
17 | g.80108759_80108791del | CA913191006 | GAA | c.1257_1289del (p.Asp419_Gln429del) | ClinVar dbSNP gnomAD v4 |
17 | g.80108756G>A | CA8815243 | GAA | c.1254G>A (p.Lys418=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108756G>C | CA401365285 | GAA | c.1254G>C (p.Lys418Asn) | |
17 | g.80108756G= | CA2277812960 | GAA | c.1254G= (p.Lys418=) | |
17 | g.80108756G>T | CA401365286 | GAA | c.1254G>T (p.Lys418Asn) | |
17 | g.80108757G>A | CA401365287 | GAA | c.1255G>A (p.Asp419Asn) | |
17 | g.80108757G>C | CA401365288 | GAA | c.1255G>C (p.Asp419His) | |
17 | g.80108757G>T | CA401365289 | GAA | c.1255G>T (p.Asp419Tyr) | |
17 | g.80108758A= | CA2277812961 | GAA | c.1256A= (p.Asp419=) | |
17 | g.80108758A>C | CA401365290 | GAA | c.1256A>C (p.Asp419Ala) | |
17 | g.80108758A>G | CA401365292 | GAA | c.1256A>G (p.Asp419Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108758A>T | CA401365291 | GAA | c.1256A>T (p.Asp419Val) | |
17 | g.80108759T>A | CA401365293 | GAA | c.1257T>A (p.Asp419Glu) | |
17 | g.80108759T>C | CA502402559 | GAA | c.1257T>C (p.Asp419=) | |
17 | g.80108759T>G | CA401365294 | GAA | c.1257T>G (p.Asp419Glu) | |
17 | g.80108760G>A | CA294892550 | GAA | c.1258G>A (p.Gly420Ser) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108760G>C | CA401365295 | GAA | c.1258G>C (p.Gly420Arg) | |
17 | g.80108760G= | CA2277812962 | GAA | c.1258G= (p.Gly420=) | |
17 | g.80108760G>T | CA401365296 | GAA | c.1258G>T (p.Gly420Cys) | |
17 | g.80108761G>A | CA401365297 | GAA | c.1259G>A (p.Gly420Asp) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108761G>C | CA401365298 | GAA | c.1259G>C (p.Gly420Ala) | |
17 | g.80108761G= | CA2277812963 | GAA | c.1259G= (p.Gly420=) | |
17 | g.80108761G>T | CA401365299 | GAA | c.1259G>T (p.Gly420Val) | |
17 | g.80108762C>A | CA502402563 | GAA | c.1260C>A (p.Gly420=) | ClinVar |
17 | g.80108762C= | CA2277812964 | GAA | c.1260C= (p.Gly420=) | |
17 | g.80108762C>G | CA502402564 | GAA | c.1260C>G (p.Gly420=) | ClinVar gnomAD v4 |
17 | g.80108762C>T | CA502402565 | GAA | c.1260C>T (p.Gly420=) | dbSNP gnomAD v2 |
17 | g.80108763T>A | CA401365300 | GAA | c.1261T>A (p.Phe421Ile) | |
17 | g.80108763T>C | CA401365301 | GAA | c.1261T>C (p.Phe421Leu) | |
17 | g.80108763T>G | CA401365302 | GAA | c.1261T>G (p.Phe421Val) | COSMIC |
17 | g.80108764dup | CA2695227084 | GAA | c.1262dup (p.Arg422ProfsTer?) | |
17 | g.80108764T>A | CA401365305 | GAA | c.1262T>A (p.Phe421Tyr) | |
17 | g.80108764T>C | CA401365304 | GAA | c.1262T>C (p.Phe421Ser) | gnomAD v4 |
17 | g.80108764T>G | CA401365303 | GAA | c.1262T>G (p.Phe421Cys) | |
17 | g.80108765C>A | CA401365306 | GAA | c.1263C>A (p.Phe421Leu) | |
17 | g.80108765C>G | CA401365307 | GAA | c.1263C>G (p.Phe421Leu) | |
17 | g.80108765C>T | CA502402569 | GAA | c.1263C>T (p.Phe421=) | |
17 | g.80108766C>A | CA502402571 | GAA | c.1264C>A (p.Arg422=) | |
17 | g.80108766C= | CA2277812965 | GAA | c.1264C= (p.Arg422=) | |
17 | g.80108766C>G | CA401365308 | GAA | c.1264C>G (p.Arg422Gly) | |
17 | g.80108766C>T | CA8815244 | GAA | c.1264C>T (p.Arg422Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108767G>A | CA8815245 | GAA | c.1265G>A (p.Arg422Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108767G>C | CA401365309 | GAA | c.1265G>C (p.Arg422Pro) | gnomAD v4 |
17 | g.80108767G= | CA2277812966 | GAA | c.1265G= (p.Arg422=) | |
17 | g.80108767G>T | CA401365310 | GAA | c.1265G>T (p.Arg422Leu) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108768G>A | CA502402575 | GAA | c.1266G>A (p.Arg422=) | |
17 | g.80108768G>C | CA502402576 | GAA | c.1266G>C (p.Arg422=) | |
17 | g.80108768G>T | CA502402577 | GAA | c.1266G>T (p.Arg422=) | gnomAD v4 |
17 | g.80108769G>A | CA401365311 | GAA | c.1267G>A (p.Asp423Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108769G>C | CA401365312 | GAA | c.1267G>C (p.Asp423His) | gnomAD v4 |
17 | g.80108769G= | CA2277812967 | GAA | c.1267G= (p.Asp423=) | |
17 | g.80108769G>T | CA401365313 | GAA | c.1267G>T (p.Asp423Tyr) | |
17 | g.80108770A>C | CA401365314 | GAA | c.1268A>C (p.Asp423Ala) | |
17 | g.80108770A>G | CA401365315 | GAA | c.1268A>G (p.Asp423Gly) | |
17 | g.80108770A>T | CA401365316 | GAA | c.1268A>T (p.Asp423Val) | |
17 | g.80108771C>A | CA401365317 | GAA | c.1269C>A (p.Asp423Glu) | |
17 | g.80108771C>G | CA401365318 | GAA | c.1269C>G (p.Asp423Glu) | |
17 | g.80108771C>T | CA502402581 | GAA | c.1269C>T (p.Asp423=) | |
17 | g.80108772T>A | CA401365319 | GAA | c.1270T>A (p.Phe424Ile) | |
17 | g.80108772T>C | CA401365321 | GAA | c.1270T>C (p.Phe424Leu) | |
17 | g.80108772T>G | CA401365320 | GAA | c.1270T>G (p.Phe424Val) | |
17 | g.80108773del | CA2640286692 | GAA | c.1271del (p.Phe424SerfsTer16) | gnomAD v4 |
17 | g.80108773T>A | CA401365322 | GAA | c.1271T>A (p.Phe424Tyr) | |
17 | g.80108773T>C | CA401365324 | GAA | c.1271T>C (p.Phe424Ser) | |
17 | g.80108773T>G | CA401365323 | GAA | c.1271T>G (p.Phe424Cys) | |
17 | g.80108774C>A | CA401365325 | GAA | c.1272C>A (p.Phe424Leu) | |
17 | g.80108774C>G | CA401365326 | GAA | c.1272C>G (p.Phe424Leu) | |
17 | g.80108774C>T | CA502402585 | GAA | c.1272C>T (p.Phe424=) | |
17 | g.80108776del | CA2640286697 | GAA | c.1274del (p.Pro425ArgfsTer15) | ClinVar gnomAD v4 |
17 | g.80108775C>A | CA401365327 | GAA | c.1273C>A (p.Pro425Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108775C= | CA2277812968 | GAA | c.1273C= (p.Pro425=) | |
17 | g.80108775C>G | CA401365328 | GAA | c.1273C>G (p.Pro425Ala) | |
17 | g.80108775C>T | CA401365329 | GAA | c.1273C>T (p.Pro425Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108776C>A | CA8815247 | GAA | c.1274C>A (p.Pro425Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108776C= | CA2277812969 | GAA | c.1274C= (p.Pro425=) | |
17 | g.80108776C>G | CA401365330 | GAA | c.1274C>G (p.Pro425Arg) | |
17 | g.80108776C>T | CA8815246 | GAA | c.1274C>T (p.Pro425Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108777G>A | CA8815248 | GAA | c.1275G>A (p.Pro425=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108777G>C | CA502402589 | GAA | c.1275G>C (p.Pro425=) | |
17 | g.80108777G= | CA2277812970 | GAA | c.1275G= (p.Pro425=) | |
17 | g.80108777G>T | CA502402590 | GAA | c.1275G>T (p.Pro425=) | |
17 | g.80108778G>A | CA401365331 | GAA | c.1276G>A (p.Ala426Thr) | ClinVar dbSNP |
17 | g.80108778G>C | CA401365332 | GAA | c.1276G>C (p.Ala426Pro) | |
17 | g.80108778G>T | CA401365333 | GAA | c.1276G>T (p.Ala426Ser) | |
17 | g.80108779C>A | CA401365334 | GAA | c.1277C>A (p.Ala426Asp) | gnomAD v4 |
17 | g.80108779C>G | CA401365336 | GAA | c.1277C>G (p.Ala426Gly) | |
17 | g.80108779C>T | CA401365335 | GAA | c.1277C>T (p.Ala426Val) | COSMIC |
17 | g.80108780C>A | CA502402594 | GAA | c.1278C>A (p.Ala426=) | gnomAD v4 |
17 | g.80108780C>G | CA502402596 | GAA | c.1278C>G (p.Ala426=) | |
17 | g.80108780C>T | CA502402597 | GAA | c.1278C>T (p.Ala426=) | ClinVar gnomAD v4 |
17 | g.80108781A= | CA2277812971 | GAA | c.1279A= (p.Met427=) | |
17 | g.80108781A>C | CA401365337 | GAA | c.1279A>C (p.Met427Leu) | |
17 | g.80108781A>G | CA401365338 | GAA | c.1279A>G (p.Met427Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108781A>T | CA401365339 | GAA | c.1279A>T (p.Met427Leu) | |
17 | g.80108782T>A | CA401365340 | GAA | c.1280T>A (p.Met427Lys) | |
17 | g.80108782T>C | CA401365341 | GAA | c.1280T>C (p.Met427Thr) | ClinVar dbSNP |
17 | g.80108782T>G | CA401365342 | GAA | c.1280T>G (p.Met427Arg) | |
17 | g.80108782T= | CA2277812972 | GAA | c.1280T= (p.Met427=) | |
17 | g.80108783G>A | CA401365343 | GAA | c.1281G>A (p.Met427Ile) | |
17 | g.80108783G>C | CA401365344 | GAA | c.1281G>C (p.Met427Ile) | |
17 | g.80108783G>T | CA401365345 | GAA | c.1281G>T (p.Met427Ile) | |
17 | g.80108784G>A | CA401365347 | GAA | c.1282G>A (p.Val428Met) | |
17 | g.80108784G>C | CA401365348 | GAA | c.1282G>C (p.Val428Leu) | |
17 | g.80108784G>T | CA401365346 | GAA | c.1282G>T (p.Val428Leu) | gnomAD v4 |
17 | g.80108785T>A | CA401365349 | GAA | c.1283T>A (p.Val428Glu) | |
17 | g.80108785T>C | CA401365350 | GAA | c.1283T>C (p.Val428Ala) | |
17 | g.80108785T>G | CA401365351 | GAA | c.1283T>G (p.Val428Gly) | |
17 | g.80108786G>A | CA502402602 | GAA | c.1284G>A (p.Val428=) | gnomAD v4 |
17 | g.80108786G>C | CA502402604 | GAA | c.1284G>C (p.Val428=) | |
17 | g.80108786G>T | CA502402606 | GAA | c.1284G>T (p.Val428=) | ClinVar dbSNP COSMIC |
17 | g.80108787C>A | CA401365352 | GAA | c.1285C>A (p.Gln429Lys) | gnomAD v4 |
17 | g.80108787C= | CA2277812973 | GAA | c.1285C= (p.Gln429=) | |
17 | g.80108787C>G | CA8815249 | GAA | c.1285C>G (p.Gln429Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108787C>T | CA401365353 | GAA | c.1285C>T (p.Gln429Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108788A= | CA2277812974 | GAA | c.1286A= (p.Gln429=) | |
17 | g.80108788A>C | CA401365354 | GAA | c.1286A>C (p.Gln429Pro) | |
17 | g.80108788A>G | CA8815250 | GAA | c.1286A>G (p.Gln429Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.80108788A>T | CA401365355 | GAA | c.1286A>T (p.Gln429Leu) | |
17 | g.80108789G>A | CA502402608 | GAA | c.1287G>A (p.Gln429=) | |
17 | g.80108789G>C | CA401365356 | GAA | c.1287G>C (p.Gln429His) | |
17 | g.80108789G>T | CA401365357 | GAA | c.1287G>T (p.Gln429His) | |
17 | g.80108790G>A | CA8815251 | GAA | c.1288G>A (p.Glu430Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108790G>C | CA401365359 | GAA | c.1288G>C (p.Glu430Gln) | |
17 | g.80108790G= | CA2277812975 | GAA | c.1288G= (p.Glu430=) | |
17 | g.80108790G>T | CA401365358 | GAA | c.1288G>T (p.Glu430Ter) | |
17 | g.80108791A>C | CA401365360 | GAA | c.1289A>C (p.Glu430Ala) | |
17 | g.80108791A>G | CA401365361 | GAA | c.1289A>G (p.Glu430Gly) | |
17 | g.80108791A>T | CA401365362 | GAA | c.1289A>T (p.Glu430Val) | |
17 | g.80108793_80108801del | CA658795248 | GAA | c.1291_1299del (p.Leu431_Gln433del) | |
17 | g.80108792G>A | CA502402611 | GAA | c.1290G>A (p.Glu430=) | |
17 | g.80108792G>C | CA401365363 | GAA | c.1290G>C (p.Glu430Asp) | |
17 | g.80108792G>T | CA401365364 | GAA | c.1290G>T (p.Glu430Asp) | |
17 | g.80108795_80108814del | CA658795249 | GAA | c.1293_1312del (p.Gln433AspfsTer?) | ClinVar |
17 | g.80108795_80108885del | CA891862614 | GAA | c.1293_1326+57del | |
17 | g.80108793C>A | CA401365366 | GAA | c.1291C>A (p.Leu431Met) | |
17 | g.80108793C= | CA2277812976 | GAA | c.1291C= (p.Leu431=) | |
17 | g.80108793C>G | CA401365365 | GAA | c.1291C>G (p.Leu431Val) | |
17 | g.80108793C>T | CA502402616 | GAA | c.1291C>T (p.Leu431=) | |
17 | g.80108793dup | CA913014095 | GAA | c.1291dup (p.Leu431ProfsTer?) | |
17 | g.80108794T>A | CA401365367 | GAA | c.1292T>A (p.Leu431Gln) | gnomAD v4 |
17 | g.80108794T>C | CA401365368 | GAA | c.1292T>C (p.Leu431Pro) | |
17 | g.80108794T>G | CA401365369 | GAA | c.1292T>G (p.Leu431Arg) | |
17 | g.80108794_80108797dup | CA294892605 | GAA | c.1292_1295dup (p.Gln433AlafsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108795G>A | CA502402619 | GAA | c.1293G>A (p.Leu431=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108795G>C | CA502402620 | GAA | c.1293G>C (p.Leu431=) | |
17 | g.80108795G= | CA2277812977 | GAA | c.1293G= (p.Leu431=) | |
17 | g.80108795G>T | CA502402623 | GAA | c.1293G>T (p.Leu431=) | ClinVar dbSNP gnomAD v4 |
17 | g.80108796C>A | CA401365370 | GAA | c.1294C>A (p.His432Asn) | |
17 | g.80108796C>G | CA401365371 | GAA | c.1294C>G (p.His432Asp) | |
17 | g.80108796C>T | CA401365372 | GAA | c.1294C>T (p.His432Tyr) | |
17 | g.80108797A>C | CA401365375 | GAA | c.1295A>C (p.His432Pro) | |
17 | g.80108797A>G | CA401365374 | GAA | c.1295A>G (p.His432Arg) | gnomAD v4 |
17 | g.80108797A>T | CA401365373 | GAA | c.1295A>T (p.His432Leu) | |
17 | g.80108798C>A | CA401365376 | GAA | c.1296C>A (p.His432Gln) | ClinVar |
17 | g.80108798C>G | CA401365377 | GAA | c.1296C>G (p.His432Gln) | |
17 | g.80108798C>T | CA502402636 | GAA | c.1296C>T (p.His432=) | ClinVar dbSNP gnomAD v4 |
17 | g.80108799del | CA502402637 | GAA | c.1297del (p.Gln433ArgfsTer7) | COSMIC |
17 | g.80108799C>A | CA401365378 | GAA | c.1297C>A (p.Gln433Lys) | gnomAD v4 |
17 | g.80108799C= | CA2277812978 | GAA | c.1297C= (p.Gln433=) | |
17 | g.80108799C>G | CA401365379 | GAA | c.1297C>G (p.Gln433Glu) | |
17 | g.80108799C>T | CA401365380 | GAA | c.1297C>T (p.Gln433Ter) | |
17 | g.80108799_80108800insTCCTGC | CA986706026 | GAA | c.1297_1298insTCCTGC (p.His432_Gln433insLeuLeu) | gnomAD v3 gnomAD v4 |
17 | g.80108799_80108800insTCCTGCACCA | CA2277812979 | GAA | c.1297_1298insTCCTGCACCA (p.Gln433LeufsTer?) | dbSNP |
17 | g.80108800A= | CA2277812980 | GAA | c.1298A= (p.Gln433=) | |
17 | g.80108800A>C | CA401365381 | GAA | c.1298A>C (p.Gln433Pro) | |
17 | g.80108800A>G | CA8815252 | GAA | c.1298A>G (p.Gln433Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108800A>T | CA401365382 | GAA | c.1298A>T (p.Gln433Leu) | dbSNP |
17 | g.80108800_80108803delinsTCCTGCACCATGGC | CA2573154961 | GAA | c.1298_1301delinsTCCTGCACCATGGC (p.Gln433LeufsTer?) | ClinVar dbSNP |
17 | g.80108800_80108801insCCAT | CA986706033 | GAA | c.1298_1299insCCAT (p.Gln433HisfsTer?) | gnomAD v3 gnomAD v4 |
17 | g.80108801G>A | CA502402641 | GAA | c.1299G>A (p.Gln433=) | |
17 | g.80108801G>C | CA401365383 | GAA | c.1299G>C (p.Gln433His) | dbSNP |
17 | g.80108801G>T | CA401365384 | GAA | c.1299G>T (p.Gln433His) | gnomAD v4 |
17 | g.80108802G>A | CA401365385 | GAA | c.1300G>A (p.Gly434Ser) | |
17 | g.80108802G>C | CA401365386 | GAA | c.1300G>C (p.Gly434Arg) | |
17 | g.80108802G>T | CA401365387 | GAA | c.1300G>T (p.Gly434Cys) | |
17 | g.80108803G>A | CA401365390 | GAA | c.1301G>A (p.Gly434Asp) | dbSNP |
17 | g.80108803G>C | CA401365389 | GAA | c.1301G>C (p.Gly434Ala) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108803G= | CA2277812981 | GAA | c.1301G= (p.Gly434=) | |
17 | g.80108803G>T | CA401365388 | GAA | c.1301G>T (p.Gly434Val) | gnomAD v4 |
17 | g.80108804_80108805del | CA2695227085 | GAA | c.1302_1303del (p.Gly435ProfsTer?) | |
17 | g.80108804C>A | CA502402646 | GAA | c.1302C>A (p.Gly434=) | gnomAD v4 |
17 | g.80108804C= | CA2277812982 | GAA | c.1302C= (p.Gly434=) | |
17 | g.80108804C>G | CA502402649 | GAA | c.1302C>G (p.Gly434=) | |
17 | g.80108804C>T | CA8815253 | GAA | c.1302C>T (p.Gly434=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108805G>A | CA8815254 | GAA | c.1303G>A (p.Gly435Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108805G>C | CA401365391 | GAA | c.1303G>C (p.Gly435Arg) | |
17 | g.80108805G= | CA2277812983 | GAA | c.1303G= (p.Gly435=) | |
17 | g.80108805G>T | CA401365392 | GAA | c.1303G>T (p.Gly435Cys) | gnomAD v4 |
17 | g.80108806G>A | CA401365393 | GAA | c.1304G>A (p.Gly435Asp) | gnomAD v4 |
17 | g.80108806G>C | CA401365394 | GAA | c.1304G>C (p.Gly435Ala) | |
17 | g.80108806G= | CA2277812984 | GAA | c.1304G= (p.Gly435=) | |
17 | g.80108806G>T | CA401365395 | GAA | c.1304G>T (p.Gly435Val) | ClinVar dbSNP gnomAD v4 |
17 | g.80108807C>A | CA502402655 | GAA | c.1305C>A (p.Gly435=) | gnomAD v4 |
17 | g.80108807C>G | CA502402656 | GAA | c.1305C>G (p.Gly435=) | |
17 | g.80108807C>T | CA502402657 | GAA | c.1305C>T (p.Gly435=) | gnomAD v4 |
17 | g.80108808C>A | CA502402659 | GAA | c.1306C>A (p.Arg436=) | ClinVar gnomAD v4 |
17 | g.80108808C= | CA2277812985 | GAA | c.1306C= (p.Arg436=) | |
17 | g.80108808C>G | CA401365396 | GAA | c.1306C>G (p.Arg436Gly) | |
17 | g.80108808C>T | CA8815255 | GAA | c.1306C>T (p.Arg436Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108809G>A | CA8815256 | GAA | c.1307G>A (p.Arg436Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108809G>C | CA401365397 | GAA | c.1307G>C (p.Arg436Pro) | |
17 | g.80108809G= | CA2277812986 | GAA | c.1307G= (p.Arg436=) | |
17 | g.80108809G>T | CA401365398 | GAA | c.1307G>T (p.Arg436Leu) | gnomAD v4 |
17 | g.80108810del | CA2499225008 | GAA | c.1308del (p.Arg437AlafsTer3) | ClinVar dbSNP |
17 | g.80108810G>A | CA502402663 | GAA | c.1308G>A (p.Arg436=) | |
17 | g.80108810G>C | CA502402664 | GAA | c.1308G>C (p.Arg436=) | |
17 | g.80108810G>T | CA502402665 | GAA | c.1308G>T (p.Arg436=) | COSMIC |
17 | g.80108811C>A | CA401365399 | GAA | c.1309C>A (p.Arg437Ser) | ClinVar dbSNP gnomAD v4 |
17 | g.80108811C= | CA2277812987 | GAA | c.1309C= (p.Arg437=) | |
17 | g.80108811C>G | CA401365400 | GAA | c.1309C>G (p.Arg437Gly) | |
17 | g.80108811C>T | CA274356 | GAA | c.1309C>T (p.Arg437Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108812G>A | CA8815257 | GAA | c.1310G>A (p.Arg437His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108812G>C | CA401365401 | GAA | c.1310G>C (p.Arg437Pro) | |
17 | g.80108812G= | CA2277812988 | GAA | c.1310G= (p.Arg437=) | |
17 | g.80108812G>T | CA401365402 | GAA | c.1310G>T (p.Arg437Leu) | gnomAD v4 |
17 | g.80108813C>A | CA502402668 | GAA | c.1311C>A (p.Arg437=) | gnomAD v4 |
17 | g.80108813C= | CA2277812989 | GAA | c.1311C= (p.Arg437=) | |
17 | g.80108813C>G | CA502402672 | GAA | c.1311C>G (p.Arg437=) | |
17 | g.80108813C>T | CA502402670 | GAA | c.1311C>T (p.Arg437=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108814T>A | CA401365403 | GAA | c.1312T>A (p.Tyr438Asn) | |
17 | g.80108814T>C | CA401365404 | GAA | c.1312T>C (p.Tyr438His) | |
17 | g.80108814T>G | CA401365405 | GAA | c.1312T>G (p.Tyr438Asp) | |
17 | g.80108815A= | CA2277812990 | GAA | c.1313A= (p.Tyr438=) | |
17 | g.80108815A>C | CA294892655 | GAA | c.1313A>C (p.Tyr438Ser) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108815A>G | CA401365406 | GAA | c.1313A>G (p.Tyr438Cys) | gnomAD v4 |
17 | g.80108815A>T | CA401365407 | GAA | c.1313A>T (p.Tyr438Phe) | gnomAD v4 |
17 | g.80108816C>A | CA401365408 | GAA | c.1314C>A (p.Tyr438Ter) | ClinVar |
17 | g.80108816C= | CA2277812992 | GAA | c.1314C= (p.Tyr438=) | |
17 | g.80108816C>G | CA401365409 | GAA | c.1314C>G (p.Tyr438Ter) | |
17 | g.80108816C>T | CA502402674 | GAA | c.1314C>T (p.Tyr438=) | ClinVar dbSNP gnomAD v4 |
17 | g.80108816_80108819delinsCATG | CA2277812991 | GAA | c.1314_1317delinsCATG (p.Tyr438=) | |
17 | g.80108817A= | CA2277812993 | GAA | c.1315A= (p.Met439=) | |
17 | g.80108817A>C | CA401365410 | GAA | c.1315A>C (p.Met439Leu) | |
17 | g.80108817A>G | CA294892660 | GAA | c.1315A>G (p.Met439Val) | ClinVar dbSNP gnomAD v4 |
17 | g.80108817A>T | CA401365411 | GAA | c.1315A>T (p.Met439Leu) | dbSNP |
17 | g.80108822_80108824del | CA658795250 | GAA | c.1320_1322del (p.Met440del) | ClinVar dbSNP |
17 | g.80108818T>A | CA8815258 | GAA | c.1316T>A (p.Met439Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108818T>C | CA401365413 | GAA | c.1316T>C (p.Met439Thr) | |
17 | g.80108818T>G | CA401365412 | GAA | c.1316T>G (p.Met439Arg) | |
17 | g.80108818T= | CA2277812994 | GAA | c.1316T= (p.Met439=) | |
17 | g.80108819G>A | CA401365414 | GAA | c.1317G>A (p.Met439Ile) | ClinVar dbSNP gnomAD v4 |
17 | g.80108819G>C | CA294892670 | GAA | c.1317G>C (p.Met439Ile) | dbSNP |
17 | g.80108819G= | CA2277812995 | GAA | c.1317G= (p.Met439=) | |
17 | g.80108819G>T | CA401365415 | GAA | c.1317G>T (p.Met439Ile) | gnomAD v4 |
17 | g.80108820A= | CA2277812996 | GAA | c.1318A= (p.Met440=) | |
17 | g.80108820A>C | CA401365416 | GAA | c.1318A>C (p.Met440Leu) | |
17 | g.80108820A>G | CA401365417 | GAA | c.1318A>G (p.Met440Val) | COSMIC |
17 | g.80108820A>T | CA401365418 | GAA | c.1318A>T (p.Met440Leu) | dbSNP |
17 | g.80108821T>A | CA401365419 | GAA | c.1319T>A (p.Met440Lys) | |
17 | g.80108821T>C | CA8815259 | GAA | c.1319T>C (p.Met440Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108821T>G | CA401365420 | GAA | c.1319T>G (p.Met440Arg) | |
17 | g.80108821T= | CA2277812997 | GAA | c.1319T= (p.Met440=) | |
17 | g.80108822G>A | CA401365421 | GAA | c.1320G>A (p.Met440Ile) | ClinVar gnomAD v4 |
17 | g.80108822G>C | CA10650363 | GAA | c.1320G>C (p.Met440Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108822G= | CA2277812998 | GAA | c.1320G= (p.Met440=) | |
17 | g.80108822G>T | CA8815260 | GAA | c.1320G>T (p.Met440Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108823A>C | CA401365423 | GAA | c.1321A>C (p.Ile441Leu) | |
17 | g.80108823A>G | CA401365424 | GAA | c.1321A>G (p.Ile441Val) | |
17 | g.80108823A>T | CA401365422 | GAA | c.1321A>T (p.Ile441Phe) | |
17 | g.80108824T>A | CA401365426 | GAA | c.1322T>A (p.Ile441Asn) | |
17 | g.80108824T>C | CA401365425 | GAA | c.1322T>C (p.Ile441Thr) | |
17 | g.80108824T>G | CA401365427 | GAA | c.1322T>G (p.Ile441Ser) | |
17 | g.80108824_80108837del | CA2695227086 | GAA | c.1322_1326+9del | |
17 | g.80108825C>A | CA502402687 | GAA | c.1323C>A (p.Ile441=) | ClinVar gnomAD v4 |
17 | g.80108825C= | CA2277812999 | GAA | c.1323C= (p.Ile441=) | |
17 | g.80108825C>G | CA401365428 | GAA | c.1323C>G (p.Ile441Met) | |
17 | g.80108825C>T | CA8815261 | GAA | c.1323C>T (p.Ile441=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.80108826G>A | CA8815262 | GAA | c.1324G>A (p.Val442Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108826G>C | CA401365429 | GAA | c.1324G>C (p.Val442Leu) | |
17 | g.80108826G= | CA2277813000 | GAA | c.1324G= (p.Val442=) | |
17 | g.80108826G>T | CA401365430 | GAA | c.1324G>T (p.Val442Leu) | gnomAD v4 |
17 | g.80108827T>A | CA401365431 | GAA | c.1325T>A (p.Val442Glu) | |
17 | g.80108827T>C | CA401365432 | GAA | c.1325T>C (p.Val442Ala) | |
17 | g.80108827T>G | CA401365433 | GAA | c.1325T>G (p.Val442Gly) | |
17 | g.80108828G>A | CA8815263 | GAA | c.1326G>A (p.Val442=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108828G>C | CA502402691 | GAA | c.1326G>C (p.Val442=) | |
17 | g.80108828G= | CA2277813001 | GAA | c.1326G= (p.Val442=) | |
17 | g.80108828G>T | CA502402692 | GAA | c.1326G>T (p.Val442=) | gnomAD v4 |
17 | g.80108829G>A | CA401365436 | GAA | c.1326+1G>A (n.1326+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108829G>C | CA401365437 | GAA | c.1326+1G>C (n.1326+1G>C) | |
17 | g.80108829G= | CA2277813002 | GAA | c.1326+1G= (n.1326+1G=) | |
17 | g.80108829G>T | CA401365438 | GAA | c.1326+1G>T (n.1326+1G>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108829_80108830insATCCTGCCATCAGCAGCTCGGGCCCTGCCGGGAGCTACAGGCCC | CA2734102449 | GAA | c.1326+1_1326+2insATCCTGCCATCAGCAGCTCGGGCCCTGCCGGGAGCTACAGGCCC (n.1326+1_1326+2insATCCTGCCATCAGCAGCTCGGGCCCTGCCGGGAGCTACAGGCCC) | dbSNP |
17 | g.80108830T>A | CA401365440 | GAA | c.1326+2T>A (n.1326+2T>A) | |
17 | g.80108830T>C | CA401365442 | GAA | c.1326+2T>C (n.1326+2T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108830T>G | CA401365439 | GAA | c.1326+2T>G (n.1326+2T>G) | |
17 | g.80108830T= | CA2277813003 | GAA | c.1326+2T= (n.1326+2T=) | |
17 | g.80108831G>A | CA2277813005 | GAA | c.1326+3G>A (n.1326+3G>A) | dbSNP gnomAD v4 |
17 | g.80108831G= | CA2277813004 | GAA | c.1326+3G= (n.1326+3G=) | |
17 | g.80108831G>T | CA2640286750 | GAA | c.1326+3G>T (n.1326+3G>T) | gnomAD v4 |
17 | g.80108832T>C | CA2640286751 | GAA | c.1326+4T>C (n.1326+4T>C) | gnomAD v4 |
17 | g.80108833G>A | CA658795251 | GAA | c.1326+5G>A (n.1326+5G>A) | gnomAD v4 |
17 | g.80108834T>C | CA628018501 | GAA | c.1326+6T>C (n.1326+6T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108834T= | CA2277813006 | GAA | c.1326+6T= (n.1326+6T=) | |
17 | g.80108835G>A | CA628018502 | GAA | c.1326+7G>A (n.1326+7G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108835G= | CA2277813007 | GAA | c.1326+7G= (n.1326+7G=) | |
17 | g.80108835G>T | CA2640286752 | GAA | c.1326+7G>T (n.1326+7G>T) | gnomAD v4 |
17 | g.80108835_80108836delinsGC | CA2277813008 | GAA | c.1326+7_1326+8delinsGC (n.1326+7_1326+8delinsGC) | |
17 | g.80108836C>A | CA628018503 | GAA | c.1326+8C>A (n.1326+8C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108836C= | CA2277813009 | GAA | c.1326+8C= (n.1326+8C=) | |
17 | g.80108836C>G | CA2580095341 | GAA | c.1326+8C>G (n.1326+8C>G) | ClinVar |
17 | g.80108836C>T | CA8815265 | GAA | c.1326+8C>T (n.1326+8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108840del | CA8815264 | GAA | c.1326+12del (n.1326+12del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108837C>A | CA2640286753 | GAA | c.1326+9C>A (n.1326+9C>A) | gnomAD v4 |
17 | g.80108837C>T | CA2640286754 | GAA | c.1326+9C>T (n.1326+9C>T) | gnomAD v4 |