Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.47284673G>A | CA400023290 | ITGB3 | c.592G>A (p.Ala198Thr) c.557G>A | |
17 | g.47284673G>C | CA400023291 | ITGB3 | c.592G>C (p.Ala198Pro) c.557G>C | |
17 | g.47284673G>T | CA400023292 | ITGB3 | c.592G>T (p.Ala198Ser) c.557G>T | |
17 | g.47284674C>A | CA400023293 | ITGB3 | c.593C>A (p.Ala198Asp) c.558C>A | |
17 | g.47284674C>G | CA400023294 | ITGB3 | c.593C>G (p.Ala198Gly) c.558C>G | |
17 | g.47284674C>T | CA400023295 | ITGB3 | c.593C>T (p.Ala198Val) c.558C>T | |
17 | g.47284675C>A | CA500431808 | ITGB3 | c.594C>A (p.Ala198=) c.559C>A | dbSNP |
17 | g.47284675C= | CA2262605362 | ITGB3 | c.594C= (p.Ala198=) c.559C= | |
17 | g.47284675C>G | CA500431809 | ITGB3 | c.594C>G (p.Ala198=) c.559C>G | |
17 | g.47284675C>T | CA8622989 | ITGB3 | c.594C>T (p.Ala198=) c.559C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
17 | g.47284676C>A | CA400023298 | ITGB3 | c.595C>A (p.Leu199Ile) c.560C>A | dbSNP |
17 | g.47284676C= | CA2262605363 | ITGB3 | c.595C= (p.Leu199=) c.560C= | |
17 | g.47284676C>G | CA400023296 | ITGB3 | c.595C>G (p.Leu199Val) c.560C>G | |
17 | g.47284676C>T | CA400023297 | ITGB3 | c.595C>T (p.Leu199Phe) c.560C>T | |
17 | g.47284677T>A | CA400023299 | ITGB3 | c.596T>A (p.Leu199His) c.561T>A | |
17 | g.47284677T>C | CA400023300 | ITGB3 | c.596T>C (p.Leu199Pro) c.561T>C | gnomAD v4 |
17 | g.47284677T>G | CA400023301 | ITGB3 | c.596T>G (p.Leu199Arg) c.561T>G | |
17 | g.47284678C>A | CA291224676 | ITGB3 | c.597C>A (p.Leu199=) c.562C>A | dbSNP gnomAD v3 |
17 | g.47284678C= | CA2262605364 | ITGB3 | c.597C= (p.Leu199=) c.562C= | |
17 | g.47284678C>G | CA500431810 | ITGB3 | c.597C>G (p.Leu199=) c.562C>G | |
17 | g.47284678C>T | CA291224678 | ITGB3 | c.597C>T (p.Leu199=) c.562C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.47284679G>A | CA8622990 | ITGB3 | c.598G>A (p.Glu200Lys) c.563G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
17 | g.47284679G>C | CA400023302 | ITGB3 | c.598G>C (p.Glu200Gln) c.563G>C | |
17 | g.47284679G= | CA2262605365 | ITGB3 | c.598G= (p.Glu200=) c.563G= | |
17 | g.47284679G>T | CA400023303 | ITGB3 | c.598G>T (p.Glu200Ter) c.563G>T | |
17 | g.47284679_47284680delinsGA | CA2262605366 | ITGB3 | c.598_599delinsGA (p.Glu200=) c.563_564delinsGA | |
17 | g.47284680A>C | CA400023304 | ITGB3 | c.599A>C (p.Glu200Ala) c.564A>C | |
17 | g.47284680A>G | CA400023305 | ITGB3 | c.599A>G (p.Glu200Gly) c.564A>G | |
17 | g.47284680A>T | CA400023306 | ITGB3 | c.599A>T (p.Glu200Val) c.564A>T | |
17 | g.47284683del | CA8622991 | ITGB3 | c.602del (p.Asn201ThrfsTer6) c.567del | ClinVar dbSNP ExAC gnomAD v2 |
17 | g.47284681A>C | CA400023307 | ITGB3 | c.600A>C (p.Glu200Asp) c.565A>C | |
17 | g.47284681A>G | CA500431811 | ITGB3 | c.600A>G (p.Glu200=) c.565A>G | |
17 | g.47284681A>T | CA400023308 | ITGB3 | c.600A>T (p.Glu200Asp) c.565A>T | |
17 | g.47284682A>C | CA400023309 | ITGB3 | c.601A>C (p.Asn201His) c.566A>C | |
17 | g.47284682A>G | CA400023310 | ITGB3 | c.601A>G (p.Asn201Asp) c.566A>G | |
17 | g.47284682A>T | CA400023311 | ITGB3 | c.601A>T (p.Asn201Tyr) c.566A>T | |
17 | g.47284683A= | CA2262605368 | ITGB3 | c.602A= (p.Asn201=) c.567A= | |
17 | g.47284683A>C | CA400023312 | ITGB3 | c.602A>C (p.Asn201Thr) c.567A>C | |
17 | g.47284683A>G | CA400023313 | ITGB3 | c.602A>G (p.Asn201Ser) c.567A>G | |
17 | g.47284683A>T | CA400023314 | ITGB3 | c.602A>T (p.Asn201Ile) c.567A>T | dbSNP |
17 | g.47284683_47284684delinsAC | CA2262605367 | ITGB3 | c.602_603delinsAC (p.Asn201=) c.567_568delinsAC | |
17 | g.47284684C>A | CA400023316 | ITGB3 | c.603C>A (p.Asn201Lys) c.568C>A | ClinVar dbSNP |
17 | g.47284684C= | CA2262605369 | ITGB3 | c.603C= (p.Asn201=) c.568C= | |
17 | g.47284684C>G | CA400023315 | ITGB3 | c.603C>G (p.Asn201Lys) c.568C>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47284684C>T | CA500431812 | ITGB3 | c.603C>T (p.Asn201=) c.568C>T | |
17 | g.47284687del | CA626378543 | ITGB3 | c.606del (p.Cys203AlafsTer4) c.571del | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47284685C>A | CA400023317 | ITGB3 | c.604C>A (p.Pro202Thr) c.569C>A | |
17 | g.47284685C>G | CA400023318 | ITGB3 | c.604C>G (p.Pro202Ala) c.569C>G | |
17 | g.47284685C>T | CA400023319 | ITGB3 | c.604C>T (p.Pro202Ser) c.569C>T | |
17 | g.47284686C>A | CA400023320 | ITGB3 | c.605C>A (p.Pro202His) c.570C>A | |
17 | g.47284686C= | CA2262605370 | ITGB3 | c.605C= (p.Pro202=) c.570C= | |
17 | g.47284686C>G | CA400023321 | ITGB3 | c.605C>G (p.Pro202Arg) c.570C>G | dbSNP |
17 | g.47284686C>T | CA8622992 | ITGB3 | c.605C>T (p.Pro202Leu) c.570C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47284687C>A | CA500431814 | ITGB3 | c.606C>A (p.Pro202=) c.571C>A | |
17 | g.47284687C= | CA2262605371 | ITGB3 | c.606C= (p.Pro202=) c.571C= | |
17 | g.47284687C>G | CA500431815 | ITGB3 | c.606C>G (p.Pro202=) c.571C>G | |
17 | g.47284687C>T | CA500431813 | ITGB3 | c.606C>T (p.Pro202=) c.571C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
17 | g.47284688T>A | CA400023322 | ITGB3 | c.607T>A (p.Cys203Ser) c.572T>A | |
17 | g.47284688T>C | CA400023324 | ITGB3 | c.607T>C (p.Cys203Arg) c.572T>C | |
17 | g.47284688T>G | CA400023323 | ITGB3 | c.607T>G (p.Cys203Gly) c.572T>G | |
17 | g.47284689G>A | CA8622993 | ITGB3 | c.608G>A (p.Cys203Tyr) c.573G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47284689G>C | CA400023325 | ITGB3 | c.608G>C (p.Cys203Ser) c.573G>C | |
17 | g.47284689G= | CA2262605372 | ITGB3 | c.608G= (p.Cys203=) c.573G= | |
17 | g.47284689G>T | CA400023326 | ITGB3 | c.608G>T (p.Cys203Phe) c.573G>T | |
17 | g.47284690C>A | CA400023327 | ITGB3 | c.609C>A (p.Cys203Ter) c.574C>A | |
17 | g.47284690C>G | CA400023328 | ITGB3 | c.609C>G (p.Cys203Trp) c.574C>G | |
17 | g.47284690C>T | CA500431816 | ITGB3 | c.609C>T (p.Cys203=) c.574C>T | |
17 | g.47284691T>A | CA400023329 | ITGB3 | c.610T>A (p.Tyr204Asn) c.575T>A | |
17 | g.47284691T>C | CA400023330 | ITGB3 | c.610T>C (p.Tyr204His) c.575T>C | COSMIC COSMIC COSMIC |
17 | g.47284691T>G | CA400023331 | ITGB3 | c.610T>G (p.Tyr204Asp) c.575T>G | gnomAD v4 |
17 | g.47284691dup | CA2576302224 | ITGB3 | c.610dup (p.Tyr204LeufsTer2) c.575dup | |
17 | g.47284692A= | CA2262605373 | ITGB3 | c.611A= (p.Tyr204=) c.576A= | |
17 | g.47284692A>C | CA400023332 | ITGB3 | c.611A>C (p.Tyr204Ser) c.576A>C | |
17 | g.47284692A>G | CA8622994 | ITGB3 | c.611A>G (p.Tyr204Cys) c.576A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47284692A>T | CA400023333 | ITGB3 | c.611A>T (p.Tyr204Phe) c.576A>T | |
17 | g.47284692_47284693delinsAT | CA2262605374 | ITGB3 | c.611_612delinsAT (p.Tyr204=) c.576_577delinsAT | |
17 | g.47284693del | CA772536395 | ITGB3 | c.612del (p.Tyr204Ter) c.577del | dbSNP |
17 | g.47284693T>A | CA400023335 | ITGB3 | c.612T>A (p.Tyr204Ter) c.577T>A | |
17 | g.47284693T>C | CA500431817 | ITGB3 | c.612T>C (p.Tyr204=) c.577T>C | |
17 | g.47284693T>G | CA400023334 | ITGB3 | c.612T>G (p.Tyr204Ter) c.577T>G | |
17 | g.47284694_47284697del | CA915940309 | ITGB3 | c.613_614+2del c.578_579+2del | ClinVar dbSNP |
17 | g.47284694G>A | CA400023336 | ITGB3 | c.613G>A (p.Asp205Asn) c.578G>A | |
17 | g.47284694G>C | CA400023338 | ITGB3 | c.613G>C (p.Asp205His) c.578G>C | |
17 | g.47284694G>T | CA400023337 | ITGB3 | c.613G>T (p.Asp205Tyr) c.578G>T | gnomAD v4 |
17 | g.47284695A>C | CA400023339 | ITGB3 | c.614A>C (p.Asp205Ala) c.579A>C | COSMIC COSMIC COSMIC |
17 | g.47284695A>G | CA400023340 | ITGB3 | c.614A>G (p.Asp205Gly) c.579A>G | gnomAD v4 |
17 | g.47284695A>T | CA400023341 | ITGB3 | c.614A>T (p.Asp205Val) c.579A>T | |
17 | g.47284698_47284701del | CA2576302225 | ITGB3 | c.614+3_614+6del c.579+3_579+6del | |
17 | g.47284696G>A | CA400023342 | ITGB3 | c.614+1G>A (n.614+1G>A) c.579+1G>A | gnomAD v4 |
17 | g.47284696G>C | CA400023343 | ITGB3 | c.614+1G>C (n.614+1G>C) c.579+1G>C | dbSNP gnomAD v4 |
17 | g.47284696G= | CA2262605375 | ITGB3 | c.614+1G= (n.614+1G=) c.579+1G= | |
17 | g.47284696G>T | CA400023344 | ITGB3 | c.614+1G>T (n.614+1G>T) c.579+1G>T | ClinVar dbSNP |
17 | g.47284697T>A | CA400023345 | ITGB3 | c.614+2T>A (n.614+2T>A) c.579+2T>A | |
17 | g.47284697T>C | CA400023346 | ITGB3 | c.614+2T>C (n.614+2T>C) c.579+2T>C | |
17 | g.47284697T>G | CA400023347 | ITGB3 | c.614+2T>G (n.614+2T>G) c.579+2T>G | |
17 | g.47284700G>C | CA2499224678 | ITGB3 | c.614+5G>C (n.614+5G>C) c.579+5G>C | ClinVar dbSNP gnomAD v4 |
17 | g.47284704C>A | CA2697560135 | ITGB3 | c.614+9C>A (n.614+9C>A) c.579+9C>A | ClinVar |
17 | g.47284706C>T | CA2563413898 | ITGB3 | c.614+11C>T (n.614+11C>T) c.579+11C>T | |
17 | g.47284709C>A | CA2740093774 | ITGB3 | c.614+14C>A (n.614+14C>A) c.579+14C>A | ClinVar |
17 | g.47284709C= | CA2262605377 | ITGB3 | c.614+14C= (n.614+14C=) c.579+14C= | |
17 | g.47284709C>G | CA2262605376 | ITGB3 | c.614+14C>G (n.614+14C>G) c.579+14C>G | ClinVar dbSNP |
17 | g.47284710C>A | CA2576302226 | ITGB3 | c.614+15C>A (n.614+15C>A) c.579+15C>A | |
17 | g.47284710C= | CA2262605378 | ITGB3 | c.614+15C= (n.614+15C=) c.579+15C= | |
17 | g.47284710C>T | CA8622995 | ITGB3 | c.614+15C>T (n.614+15C>T) c.579+15C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47284712_47284713del | CA2739268193 | ITGB3 | c.614+17_614+18del (n.614+17_614+18del) c.579+17_579+18del | ClinVar |
17 | g.47284714C>A | CA8622996 | ITGB3 | c.614+19C>A (n.614+19C>A) c.579+19C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47284714C= | CA2262605379 | ITGB3 | c.614+19C= (n.614+19C=) c.579+19C= | |
17 | g.47284714C>T | CA8622997 | ITGB3 | c.614+19C>T (n.614+19C>T) c.579+19C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47284714_47284715delinsCG | CA2262605380 | ITGB3 | c.614+19_614+20delinsCG (n.614+19_614+20delinsCG) c.579+19_579+20delinsCG | |
17 | g.47284715del | CA2262605381 | ITGB3 | c.614+20del (n.614+20del) c.579+20del | dbSNP |
17 | g.47284715G>A | CA626378548 | ITGB3 | c.614+20G>A (n.614+20G>A) c.579+20G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.47284715G= | CA2262605382 | ITGB3 | c.614+20G= (n.614+20G=) c.579+20G= | |
17 | g.47284719G>A | CA8622998 | ITGB3 | c.614+24G>A (n.614+24G>A) c.579+24G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47284719G= | CA2262605383 | ITGB3 | c.614+24G= (n.614+24G=) c.579+24G= | |
17 | g.47284721A= | CA2262605384 | ITGB3 | c.614+26A= (n.614+26A=) c.579+26A= | |
17 | g.47284721A>G | CA626378550 | ITGB3 | c.614+26A>G (n.614+26A>G) c.579+26A>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47284723A= | CA2262605385 | ITGB3 | c.614+28A= (n.614+28A=) c.579+28A= | |
17 | g.47284723A>C | CA8622999 | ITGB3 | c.614+28A>C (n.614+28A>C) c.579+28A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47284724G>A | CA2262605387 | ITGB3 | c.614+29G>A (n.614+29G>A) c.579+29G>A | dbSNP gnomAD v4 |
17 | g.47284724G= | CA2262605386 | ITGB3 | c.614+29G= (n.614+29G=) c.579+29G= | |
17 | g.47284725C>A | CA2638435395 | ITGB3 | c.614+30C>A (n.614+30C>A) c.579+30C>A | gnomAD v4 |
17 | g.47284726A>G | CA2576302227 | ITGB3 | c.614+31A>G (n.614+31A>G) c.579+31A>G | |
17 | g.47284728C= | CA2262605388 | ITGB3 | c.614+33C= (n.614+33C=) c.579+33C= | |
17 | g.47284728C>G | CA8623000 | ITGB3 | c.614+33C>G (n.614+33C>G) c.579+33C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47284730T>G | CA2576302228 | ITGB3 | c.614+35T>G (n.614+35T>G) c.579+35T>G | |
17 | g.47284732T>C | CA2638435396 | ITGB3 | c.614+37T>C (n.614+37T>C) c.579+37T>C | gnomAD v4 |
17 | g.47284736C>A | CA2638435397 | ITGB3 | c.614+41C>A (n.614+41C>A) c.579+41C>A | gnomAD v4 |
17 | g.47284736C>T | CA2638435398 | ITGB3 | c.614+41C>T (n.614+41C>T) c.579+41C>T | gnomAD v4 |
17 | g.47284738A= | CA2262605389 | ITGB3 | c.614+43A= (n.614+43A=) c.579+43A= | |
17 | g.47284738A>G | CA2262605390 | ITGB3 | c.614+43A>G (n.614+43A>G) c.579+43A>G | dbSNP |
17 | g.47284740G>A | CA8623001 | ITGB3 | c.614+45G>A (n.614+45G>A) c.579+45G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47284740G= | CA2262605391 | ITGB3 | c.614+45G= (n.614+45G=) c.579+45G= | |
17 | g.47284740G>T | CA626378557 | ITGB3 | c.614+45G>T (n.614+45G>T) c.579+45G>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47284742A>T | CA2638435399 | ITGB3 | c.614+47A>T (n.614+47A>T) c.579+47A>T | gnomAD v4 |
17 | g.47284743G>A | CA2809686272 | ITGB3 | c.614+48G>A (n.614+48G>A) c.579+48G>A | |
17 | g.47284744G>T | CA2638435400 | ITGB3 | c.614+49G>T (n.614+49G>T) c.579+49G>T | gnomAD v4 |
17 | g.47284745T>C | CA626378558 | ITGB3 | c.614+50T>C (n.614+50T>C) c.579+50T>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47284745T= | CA2262605392 | ITGB3 | c.614+50T= (n.614+50T=) c.579+50T= | |
17 | g.47284746C= | CA2262605393 | ITGB3 | c.614+51C= (n.614+51C=) c.579+51C= | |
17 | g.47284746C>T | CA8623002 | ITGB3 | c.614+51C>T (n.614+51C>T) c.579+51C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47284747C>A | CA2638435401 | ITGB3 | c.614+52C>A (n.614+52C>A) c.579+52C>A | gnomAD v4 |
17 | g.47284750del | CA2638435402 | ITGB3 | c.614+55del (n.614+55del) c.579+55del | gnomAD v4 |
17 | g.47284750G>C | CA2548508669 | ITGB3 | c.614+55G>C (n.614+55G>C) c.579+55G>C | gnomAD v4 |
17 | g.47284752C>G | CA2576302229 | ITGB3 | c.614+57C>G (n.614+57C>G) c.579+57C>G | |
17 | g.47284756G>T | CA2576302230 | ITGB3 | c.614+61G>T (n.614+61G>T) c.579+61G>T | |
17 | g.47284757T>G | CA2638435403 | ITGB3 | c.614+62T>G (n.614+62T>G) c.579+62T>G | gnomAD v4 |
17 | g.47284760C>A | CA2576302231 | ITGB3 | c.614+65C>A (n.614+65C>A) c.579+65C>A | |
17 | g.47284760C= | CA2262605394 | ITGB3 | c.614+65C= (n.614+65C=) c.579+65C= | |
17 | g.47284760C>G | CA2262605395 | ITGB3 | c.614+65C>G (n.614+65C>G) c.579+65C>G | dbSNP |
17 | g.47284760C>T | CA291224685 | ITGB3 | c.614+65C>T (n.614+65C>T) c.579+65C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47284762A>G | CA2638435404 | ITGB3 | c.614+67A>G (n.614+67A>G) c.579+67A>G | gnomAD v4 |
17 | g.47284764_47284770delinsTTCTAGC | CA2262605396 | ITGB3 | c.614+69_614+75delinsTTCTAGC (n.614+69_614+75delinsTTCTAGC) c.579+69_579+75delinsTTCTAGC | |
17 | g.47284765T>C | CA2638435405 | ITGB3 | c.614+70T>C (n.614+70T>C) c.579+70T>C | gnomAD v4 |
17 | g.47284770_47284775del | CA772536410 | ITGB3 | c.614+75_614+80del (n.614+75_614+80del) c.579+75_579+80del | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47284767T>C | CA2638435406 | ITGB3 | c.614+72T>C (n.614+72T>C) c.579+72T>C | gnomAD v4 |
17 | g.47284770C>G | CA2576302232 | ITGB3 | c.614+75C>G (n.614+75C>G) c.579+75C>G | |
17 | g.47284771T>C | CA772536417 | ITGB3 | c.614+76T>C (n.614+76T>C) c.579+76T>C | dbSNP |
17 | g.47284771T>G | CA2638435407 | ITGB3 | c.614+76T>G (n.614+76T>G) c.579+76T>G | gnomAD v4 |
17 | g.47284771T= | CA2262605397 | ITGB3 | c.614+76T= (n.614+76T=) c.579+76T= | |
17 | g.47284772C>G | CA2576302233 | ITGB3 | c.614+77C>G (n.614+77C>G) c.579+77C>G | |
17 | g.47284773T>G | CA2638435408 | ITGB3 | c.614+78T>G (n.614+78T>G) c.579+78T>G | gnomAD v4 |