Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.80104734_80107789del | CA658795223 | GAA | c.148_859-11del | ClinVar |
17 | g.80107628_80107647delinsAGTATATCACAGGCCTCGCC | CA2277812268 | GAA | c.764_783delinsAGTATATCACAGGCCTCGCC (p.Gln255=) | |
17 | g.80107630_80107648del | CA775511087 | GAA | c.766_784del (p.Tyr256SerfsTer6) | dbSNP |
17 | g.80107629_80107649delinsGTATATCACAGGCCTCGCCGA | CA2277812270 | GAA | c.765_785delinsGTATATCACAGGCCTCGCCGA (p.Gln255=) | |
17 | g.80107630_80107634del | CA986723296 | GAA | c.766_770del (p.Tyr256HisfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107630_80107649delinsC | CA274073 | GAA | c.766_785delinsC (p.Tyr256ArgfsTer6) | ClinVar dbSNP |
17 | g.80107633A= | CA2277812275 | GAA | c.769A= (p.Ile257=) | |
17 | g.80107633A>C | CA401363404 | GAA | c.769A>C (p.Ile257Leu) | |
17 | g.80107633A>G | CA8815012 | GAA | c.769A>G (p.Ile257Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107633A>T | CA401363407 | GAA | c.769A>T (p.Ile257Phe) | gnomAD v4 |
17 | g.80107634T>A | CA401363409 | GAA | c.770T>A (p.Ile257Asn) | |
17 | g.80107634T>C | CA401363412 | GAA | c.770T>C (p.Ile257Thr) | |
17 | g.80107634T>G | CA401363410 | GAA | c.770T>G (p.Ile257Ser) | |
17 | g.80107635C>A | CA502402652 | GAA | c.771C>A (p.Ile257=) | |
17 | g.80107635C>G | CA401363414 | GAA | c.771C>G (p.Ile257Met) | |
17 | g.80107635C>T | CA502402651 | GAA | c.771C>T (p.Ile257=) | |
17 | g.80107636A>C | CA401363416 | GAA | c.772A>C (p.Thr258Pro) | |
17 | g.80107636A>G | CA401363417 | GAA | c.772A>G (p.Thr258Ala) | |
17 | g.80107636A>T | CA401363419 | GAA | c.772A>T (p.Thr258Ser) | |
17 | g.80107636_80107649del | CA986723305 | GAA | c.772_785del (p.Thr258AlafsTer?) | gnomAD v3 gnomAD v4 |
17 | g.80107637C>A | CA401363421 | GAA | c.773C>A (p.Thr258Lys) | |
17 | g.80107637C= | CA2277812276 | GAA | c.773C= (p.Thr258=) | |
17 | g.80107637C>G | CA401363422 | GAA | c.773C>G (p.Thr258Arg) | ClinVar dbSNP |
17 | g.80107637C>T | CA401363423 | GAA | c.773C>T (p.Thr258Ile) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107638A= | CA2277812277 | GAA | c.774A= (p.Thr258=) | |
17 | g.80107638A>C | CA8815013 | GAA | c.774A>C (p.Thr258=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107638A>G | CA8815014 | GAA | c.774A>G (p.Thr258=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107638A>T | CA502402658 | GAA | c.774A>T (p.Thr258=) | gnomAD v4 |
17 | g.80107639G>A | CA401363432 | GAA | c.775G>A (p.Gly259Ser) | ClinVar dbSNP |
17 | g.80107639G>C | CA401363430 | GAA | c.775G>C (p.Gly259Arg) | |
17 | g.80107639G>T | CA401363428 | GAA | c.775G>T (p.Gly259Cys) | |
17 | g.80107640G>A | CA401363434 | GAA | c.776G>A (p.Gly259Asp) | |
17 | g.80107640G>C | CA401363436 | GAA | c.776G>C (p.Gly259Ala) | |
17 | g.80107640G>T | CA401363437 | GAA | c.776G>T (p.Gly259Val) | |
17 | g.80107641C>A | CA502402660 | GAA | c.777C>A (p.Gly259=) | |
17 | g.80107641C= | CA2277812278 | GAA | c.777C= (p.Gly259=) | |
17 | g.80107641C>G | CA502402661 | GAA | c.777C>G (p.Gly259=) | ClinVar |
17 | g.80107641C>T | CA502402662 | GAA | c.777C>T (p.Gly259=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107642C>A | CA401363438 | GAA | c.778C>A (p.Leu260Ile) | |
17 | g.80107642C>G | CA401363440 | GAA | c.778C>G (p.Leu260Val) | |
17 | g.80107642C>T | CA401363441 | GAA | c.778C>T (p.Leu260Phe) | |
17 | g.80107643T>A | CA401363443 | GAA | c.779T>A (p.Leu260His) | |
17 | g.80107643T>C | CA401363445 | GAA | c.779T>C (p.Leu260Pro) | |
17 | g.80107643T>G | CA401363447 | GAA | c.779T>G (p.Leu260Arg) | |
17 | g.80107644C>A | CA502402666 | GAA | c.780C>A (p.Leu260=) | |
17 | g.80107644C= | CA2277812279 | GAA | c.780C= (p.Leu260=) | |
17 | g.80107644C>G | CA502402667 | GAA | c.780C>G (p.Leu260=) | |
17 | g.80107644C>T | CA8815015 | GAA | c.780C>T (p.Leu260=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107645G>A | CA8815016 | GAA | c.781G>A (p.Ala261Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107645G>C | CA401363450 | GAA | c.781G>C (p.Ala261Pro) | ClinVar dbSNP gnomAD v4 |
17 | g.80107645G= | CA2277812280 | GAA | c.781G= (p.Ala261=) | |
17 | g.80107645G>T | CA401363452 | GAA | c.781G>T (p.Ala261Ser) | gnomAD v4 |
17 | g.80107646C>A | CA401363454 | GAA | c.782C>A (p.Ala261Asp) | |
17 | g.80107646C>G | CA401363458 | GAA | c.782C>G (p.Ala261Gly) | |
17 | g.80107646C>T | CA401363456 | GAA | c.782C>T (p.Ala261Val) | ClinVar dbSNP |
17 | g.80107647C>A | CA502402669 | GAA | c.783C>A (p.Ala261=) | ClinVar dbSNP |
17 | g.80107647C= | CA2277812281 | GAA | c.783C= (p.Ala261=) | |
17 | g.80107647C>G | CA502402671 | GAA | c.783C>G (p.Ala261=) | |
17 | g.80107647C>T | CA8815017 | GAA | c.783C>T (p.Ala261=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.80107648del | CA2640279548 | GAA | c.784del (p.Glu262SerfsTer6) | gnomAD v4 |
17 | g.80107648G>A | CA273984 | GAA | c.784G>A (p.Glu262Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107648G>C | CA401363459 | GAA | c.784G>C (p.Glu262Gln) | gnomAD v4 |
17 | g.80107648G= | CA2277812282 | GAA | c.784G= (p.Glu262=) | |
17 | g.80107648G>T | CA401363462 | GAA | c.784G>T (p.Glu262Ter) | |
17 | g.80107649A= | CA2277812283 | GAA | c.785A= (p.Glu262=) | |
17 | g.80107649A>C | CA401363464 | GAA | c.785A>C (p.Glu262Ala) | dbSNP |
17 | g.80107649A>G | CA401363465 | GAA | c.785A>G (p.Glu262Gly) | |
17 | g.80107649A>T | CA401363467 | GAA | c.785A>T (p.Glu262Val) | |
17 | g.80107650G>A | CA502402673 | GAA | c.786G>A (p.Glu262=) | ClinVar gnomAD v4 |
17 | g.80107650G>C | CA401363470 | GAA | c.786G>C (p.Glu262Asp) | |
17 | g.80107650G>T | CA401363472 | GAA | c.786G>T (p.Glu262Asp) | |
17 | g.80107651C>A | CA401363477 | GAA | c.787C>A (p.His263Asn) | |
17 | g.80107651C= | CA2277812284 | GAA | c.787C= (p.His263=) | |
17 | g.80107651C>G | CA401363476 | GAA | c.787C>G (p.His263Asp) | |
17 | g.80107651C>T | CA401363475 | GAA | c.787C>T (p.His263Tyr) | ClinVar dbSNP |
17 | g.80107652A= | CA2277812285 | GAA | c.788A= (p.His263=) | |
17 | g.80107652A>C | CA401363478 | GAA | c.788A>C (p.His263Pro) | |
17 | g.80107652A>G | CA8815018 | GAA | c.788A>G (p.His263Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107652A>T | CA401363479 | GAA | c.788A>T (p.His263Leu) | |
17 | g.80107653C>A | CA401363480 | GAA | c.789C>A (p.His263Gln) | |
17 | g.80107653C= | CA2277812286 | GAA | c.789C= (p.His263=) | |
17 | g.80107653C>G | CA401363481 | GAA | c.789C>G (p.His263Gln) | |
17 | g.80107653C>T | CA502402675 | GAA | c.789C>T (p.His263=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107654C>A | CA401363482 | GAA | c.790C>A (p.Leu264Ile) | |
17 | g.80107654C= | CA2277812287 | GAA | c.790C= (p.Leu264=) | |
17 | g.80107654C>G | CA401363483 | GAA | c.790C>G (p.Leu264Val) | |
17 | g.80107654C>T | CA294889693 | GAA | c.790C>T (p.Leu264Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107655T>A | CA401363484 | GAA | c.791T>A (p.Leu264His) | |
17 | g.80107655T>C | CA401363485 | GAA | c.791T>C (p.Leu264Pro) | |
17 | g.80107655T>G | CA401363486 | GAA | c.791T>G (p.Leu264Arg) | |
17 | g.80107656C>A | CA502402678 | GAA | c.792C>A (p.Leu264=) | |
17 | g.80107656C>G | CA502402677 | GAA | c.792C>G (p.Leu264=) | ClinVar dbSNP |
17 | g.80107656C>T | CA502402676 | GAA | c.792C>T (p.Leu264=) | ClinVar |
17 | g.80107657A= | CA2277812288 | GAA | c.793A= (p.Ser265=) | |
17 | g.80107657A>C | CA401363487 | GAA | c.793A>C (p.Ser265Arg) | |
17 | g.80107657A>G | CA401363488 | GAA | c.793A>G (p.Ser265Gly) | |
17 | g.80107657A>T | CA401363489 | GAA | c.793A>T (p.Ser265Cys) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107658del | CA658795237 | GAA | c.794del (p.Ser265IlefsTer3) | |
17 | g.80107658G>A | CA8815019 | GAA | c.794G>A (p.Ser265Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107658G>C | CA401363490 | GAA | c.794G>C (p.Ser265Thr) | |
17 | g.80107658G= | CA2277812289 | GAA | c.794G= (p.Ser265=) | |
17 | g.80107658G>T | CA401363491 | GAA | c.794G>T (p.Ser265Ile) | |
17 | g.80107659T>A | CA8815020 | GAA | c.795T>A (p.Ser265Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107659T>C | CA502402679 | GAA | c.795T>C (p.Ser265=) | |
17 | g.80107659T>G | CA401363492 | GAA | c.795T>G (p.Ser265Arg) | |
17 | g.80107659T= | CA2277812290 | GAA | c.795T= (p.Ser265=) | |
17 | g.80107660C>A | CA401363493 | GAA | c.796C>A (p.Pro266Thr) | ClinVar dbSNP |
17 | g.80107660C= | CA2277812291 | GAA | c.796C= (p.Pro266=) | |
17 | g.80107660C>G | CA401363494 | GAA | c.796C>G (p.Pro266Ala) | |
17 | g.80107660C>T | CA401363495 | GAA | c.796C>T (p.Pro266Ser) | ClinVar dbSNP gnomAD v4 |
17 | g.80107661C>A | CA401363496 | GAA | c.797C>A (p.Pro266His) | |
17 | g.80107661C= | CA2277812292 | GAA | c.797C= (p.Pro266=) | |
17 | g.80107661C>G | CA401363497 | GAA | c.797C>G (p.Pro266Arg) | |
17 | g.80107661C>T | CA401363498 | GAA | c.797C>T (p.Pro266Leu) | ClinVar dbSNP gnomAD v4 |
17 | g.80107662C>A | CA502402680 | GAA | c.798C>A (p.Pro266=) | |
17 | g.80107662C= | CA2277812293 | GAA | c.798C= (p.Pro266=) | |
17 | g.80107662C>G | CA502402682 | GAA | c.798C>G (p.Pro266=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107662C>T | CA502402681 | GAA | c.798C>T (p.Pro266=) | |
17 | g.80107662_80107665delinsCCTG | CA2277812294 | GAA | c.798_801delinsCCTG (p.Pro266=) | |
17 | g.80107662_80107666delinsCCTGA | CA2277812295 | GAA | c.798_802delinsCCTGA (p.Pro266=) | |
17 | g.80107662_80107667delinsCCTGAT | CA2277812296 | GAA | c.798_803delinsCCTGAT (p.Pro266=) | |
17 | g.80107663C>A | CA401363499 | GAA | c.799C>A (p.Leu267Met) | |
17 | g.80107663C>G | CA401363500 | GAA | c.799C>G (p.Leu267Val) | |
17 | g.80107663C>T | CA502402683 | GAA | c.799C>T (p.Leu267=) | |
17 | g.80107663_80107665del | CA986723335 | GAA | c.799_801del (p.Leu267del) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107663_80107666del | CA2277812297 | GAA | c.799_802del (p.Leu267CysfsTer?) | dbSNP |
17 | g.80107663_80107667delinsA | CA891862613 | GAA | c.799_803delinsA (p.Leu267SerfsTer?) | ClinVar dbSNP |
17 | g.80107664del | CA2640279626 | GAA | c.800del (p.Leu267ArgfsTer?) | gnomAD v4 |
17 | g.80107664T>A | CA401363503 | GAA | c.800T>A (p.Leu267Gln) | |
17 | g.80107664T>C | CA401363502 | GAA | c.800T>C (p.Leu267Pro) | |
17 | g.80107664T>G | CA401363501 | GAA | c.800T>G (p.Leu267Arg) | |
17 | g.80107665G>A | CA502402684 | GAA | c.801G>A (p.Leu267=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107665G>C | CA502402685 | GAA | c.801G>C (p.Leu267=) | |
17 | g.80107665G= | CA2277812298 | GAA | c.801G= (p.Leu267=) | |
17 | g.80107665G>T | CA502402686 | GAA | c.801G>T (p.Leu267=) | |
17 | g.80107666A>C | CA401363504 | GAA | c.802A>C (p.Met268Leu) | |
17 | g.80107666A>G | CA401363505 | GAA | c.802A>G (p.Met268Val) | gnomAD v4 |
17 | g.80107666A>T | CA401363506 | GAA | c.802A>T (p.Met268Leu) | |
17 | g.80107666_80107667delinsAT | CA2277812299 | GAA | c.802_803delinsAT (p.Met268=) | |
17 | g.80107667del | CA986723336 | GAA | c.803del (p.Met268SerfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107667T>A | CA401363507 | GAA | c.803T>A (p.Met268Lys) | dbSNP gnomAD v4 |
17 | g.80107667T>C | CA401363508 | GAA | c.803T>C (p.Met268Thr) | |
17 | g.80107667T>G | CA401363509 | GAA | c.803T>G (p.Met268Arg) | |
17 | g.80107667T= | CA2277812300 | GAA | c.803T= (p.Met268=) | |
17 | g.80107668G>A | CA401363510 | GAA | c.804G>A (p.Met268Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107668G>C | CA401363511 | GAA | c.804G>C (p.Met268Ile) | ClinVar |
17 | g.80107668G= | CA2277812301 | GAA | c.804G= (p.Met268=) | |
17 | g.80107668G>T | CA401363512 | GAA | c.804G>T (p.Met268Ile) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107668_80107693delinsGCTCAGCACCAGCTGGACCAGGATCA | CA2277812302 | GAA | c.804_829delinsGCTCAGCACCAGCTGGACCAGGATCA (p.Met268=) | |
17 | g.80107669C>A | CA401363513 | GAA | c.805C>A (p.Leu269Ile) | |
17 | g.80107669C>G | CA401363514 | GAA | c.805C>G (p.Leu269Val) | |
17 | g.80107669C>T | CA401363515 | GAA | c.805C>T (p.Leu269Phe) | gnomAD v4 |
17 | g.80107670_80107694del | CA915952247 | GAA | c.806_830del (p.Leu269ProfsTer?) | ClinVar dbSNP |
17 | g.80107670T>A | CA401363518 | GAA | c.806T>A (p.Leu269His) | |
17 | g.80107670T>C | CA401363516 | GAA | c.806T>C (p.Leu269Pro) | ClinVar dbSNP |
17 | g.80107670T>G | CA401363517 | GAA | c.806T>G (p.Leu269Arg) | |
17 | g.80107670T= | CA2277812303 | GAA | c.806T= (p.Leu269=) | |
17 | g.80107671C>A | CA502402688 | GAA | c.807C>A (p.Leu269=) | |
17 | g.80107671C>G | CA502402689 | GAA | c.807C>G (p.Leu269=) | ClinVar |
17 | g.80107671C>T | CA502402690 | GAA | c.807C>T (p.Leu269=) | |
17 | g.80107672A= | CA2277812304 | GAA | c.808A= (p.Ser270=) | |
17 | g.80107672A>C | CA401363519 | GAA | c.808A>C (p.Ser270Arg) | |
17 | g.80107672A>G | CA401363521 | GAA | c.808A>G (p.Ser270Gly) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107672A>T | CA401363523 | GAA | c.808A>T (p.Ser270Cys) | |
17 | g.80107673G>A | CA401363525 | GAA | c.809G>A (p.Ser270Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107673G>C | CA401363526 | GAA | c.809G>C (p.Ser270Thr) | |
17 | g.80107673G= | CA2277812305 | GAA | c.809G= (p.Ser270=) | |
17 | g.80107673G>T | CA401363528 | GAA | c.809G>T (p.Ser270Ile) | |
17 | g.80107674C>A | CA401363530 | GAA | c.810C>A (p.Ser270Arg) | |
17 | g.80107674C= | CA2277812306 | GAA | c.810C= (p.Ser270=) | |
17 | g.80107674C>G | CA401363532 | GAA | c.810C>G (p.Ser270Arg) | |
17 | g.80107674C>T | CA502402693 | GAA | c.810C>T (p.Ser270=) | dbSNP gnomAD v4 |
17 | g.80107675A>C | CA401363534 | GAA | c.811A>C (p.Thr271Pro) | |
17 | g.80107675A>G | CA401363536 | GAA | c.811A>G (p.Thr271Ala) | |
17 | g.80107675A>T | CA401363538 | GAA | c.811A>T (p.Thr271Ser) | |
17 | g.80107676C>A | CA401363544 | GAA | c.812C>A (p.Thr271Asn) | dbSNP |
17 | g.80107676C= | CA2277812307 | GAA | c.812C= (p.Thr271=) | |
17 | g.80107676C>G | CA401363542 | GAA | c.812C>G (p.Thr271Ser) | gnomAD v4 |
17 | g.80107676C>T | CA401363540 | GAA | c.812C>T (p.Thr271Ile) | dbSNP gnomAD v4 |
17 | g.80107677C>A | CA502402694 | GAA | c.813C>A (p.Thr271=) | |
17 | g.80107677C= | CA2277812308 | GAA | c.813C= (p.Thr271=) | |
17 | g.80107677C>G | CA502402695 | GAA | c.813C>G (p.Thr271=) | |
17 | g.80107677C>T | CA502402696 | GAA | c.813C>T (p.Thr271=) | dbSNP gnomAD v2 |
17 | g.80107678A>C | CA401363547 | GAA | c.814A>C (p.Ser272Arg) | |
17 | g.80107678A>G | CA401363545 | GAA | c.814A>G (p.Ser272Gly) | |
17 | g.80107678A>T | CA401363548 | GAA | c.814A>T (p.Ser272Cys) | |
17 | g.80107679G>A | CA401363550 | GAA | c.815G>A (p.Ser272Asn) | |
17 | g.80107679G>C | CA401363553 | GAA | c.815G>C (p.Ser272Thr) | |
17 | g.80107679G>T | CA401363555 | GAA | c.815G>T (p.Ser272Ile) | |
17 | g.80107680C>A | CA401363556 | GAA | c.816C>A (p.Ser272Arg) | |
17 | g.80107680C= | CA2277812309 | GAA | c.816C= (p.Ser272=) | |
17 | g.80107680C>G | CA401363558 | GAA | c.816C>G (p.Ser272Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107680C>T | CA502402697 | GAA | c.816C>T (p.Ser272=) | ClinVar dbSNP |
17 | g.80107681T>A | CA401363559 | GAA | c.817T>A (p.Trp273Arg) | |
17 | g.80107681T>C | CA401363561 | GAA | c.817T>C (p.Trp273Arg) | |
17 | g.80107681T>G | CA401363563 | GAA | c.817T>G (p.Trp273Gly) | |
17 | g.80107682G>A | CA8815021 | GAA | c.818G>A (p.Trp273Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107682G>C | CA401363565 | GAA | c.818G>C (p.Trp273Ser) | |
17 | g.80107682G= | CA2277812310 | GAA | c.818G= (p.Trp273=) | |
17 | g.80107682G>T | CA401363567 | GAA | c.818G>T (p.Trp273Leu) | dbSNP gnomAD v4 |
17 | g.80107683G>A | CA401363572 | GAA | c.819G>A (p.Trp273Ter) | |
17 | g.80107683G>C | CA401363569 | GAA | c.819G>C (p.Trp273Cys) | |
17 | g.80107683G>T | CA401363570 | GAA | c.819G>T (p.Trp273Cys) | |
17 | g.80107684A>C | CA401363574 | GAA | c.820A>C (p.Thr274Pro) | |
17 | g.80107684A>G | CA401363576 | GAA | c.820A>G (p.Thr274Ala) | |
17 | g.80107684A>T | CA401363577 | GAA | c.820A>T (p.Thr274Ser) | |
17 | g.80107685C>A | CA401363578 | GAA | c.821C>A (p.Thr274Asn) | |
17 | g.80107685C= | CA2277812311 | GAA | c.821C= (p.Thr274=) | |
17 | g.80107685C>G | CA401363580 | GAA | c.821C>G (p.Thr274Ser) | |
17 | g.80107685C>T | CA8815022 | GAA | c.821C>T (p.Thr274Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107686C>A | CA502402698 | GAA | c.822C>A (p.Thr274=) | |
17 | g.80107686C>G | CA502402699 | GAA | c.822C>G (p.Thr274=) | |
17 | g.80107686C>T | CA502402700 | GAA | c.822C>T (p.Thr274=) | ClinVar |
17 | g.80107687A>C | CA502402701 | GAA | c.823A>C (p.Arg275=) | |
17 | g.80107687A>G | CA401363583 | GAA | c.823A>G (p.Arg275Gly) | gnomAD v4 |
17 | g.80107687A>T | CA401363585 | GAA | c.823A>T (p.Arg275Trp) | |
17 | g.80107688G>A | CA401363587 | GAA | c.824G>A (p.Arg275Lys) | |
17 | g.80107688G>C | CA401363589 | GAA | c.824G>C (p.Arg275Thr) | gnomAD v4 |
17 | g.80107688G>T | CA401363590 | GAA | c.824G>T (p.Arg275Met) | |
17 | g.80107691_80107709del | CA658795238 | GAA | c.827_845del (p.Ile276ThrfsTer?) | ClinVar dbSNP |
17 | g.80107689G>A | CA502402702 | GAA | c.825G>A (p.Arg275=) | |
17 | g.80107689G>C | CA401363591 | GAA | c.825G>C (p.Arg275Ser) | |
17 | g.80107689G>T | CA401363594 | GAA | c.825G>T (p.Arg275Ser) | |
17 | g.80107689_80107690del | CA2576413979 | GAA | c.825_826del (p.Arg275SerfsTer?) | |
17 | g.80107690A= | CA2277812312 | GAA | c.826A= (p.Ile276=) | |
17 | g.80107690A>C | CA401363596 | GAA | c.826A>C (p.Ile276Leu) | |
17 | g.80107690A>G | CA401363598 | GAA | c.826A>G (p.Ile276Val) | ClinVar dbSNP gnomAD v4 |
17 | g.80107690A>T | CA401363599 | GAA | c.826A>T (p.Ile276Phe) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107691T>A | CA401363601 | GAA | c.827T>A (p.Ile276Asn) | |
17 | g.80107691T>C | CA401363603 | GAA | c.827T>C (p.Ile276Thr) | |
17 | g.80107691T>G | CA401363605 | GAA | c.827T>G (p.Ile276Ser) | |
17 | g.80107692C>A | CA502402703 | GAA | c.828C>A (p.Ile276=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107692C= | CA2277812313 | GAA | c.828C= (p.Ile276=) | |
17 | g.80107692C>G | CA401363607 | GAA | c.828C>G (p.Ile276Met) | |
17 | g.80107692C>T | CA502402704 | GAA | c.828C>T (p.Ile276=) | |
17 | g.80107693_80107694del | CA2580095271 | GAA | c.829_830del (p.Thr277ProfsTer?) | ClinVar |
17 | g.80107693_80107715del | CA658795239 | GAA | c.829_851del (p.Thr277AlafsTer?) | |
17 | g.80107693del | CA2576413980 | GAA | c.829del (p.Thr277ProfsTer?) | |
17 | g.80107693A= | CA2277812314 | GAA | c.829A= (p.Thr277=) | |
17 | g.80107693A>C | CA401363609 | GAA | c.829A>C (p.Thr277Pro) | dbSNP |
17 | g.80107693A>G | CA401363611 | GAA | c.829A>G (p.Thr277Ala) | ClinVar |
17 | g.80107693A>T | CA401363613 | GAA | c.829A>T (p.Thr277Ser) | |
17 | g.80107694C>A | CA401363619 | GAA | c.830C>A (p.Thr277Asn) | |
17 | g.80107694C= | CA2277812315 | GAA | c.830C= (p.Thr277=) | |
17 | g.80107694C>G | CA401363617 | GAA | c.830C>G (p.Thr277Ser) | |
17 | g.80107694C>T | CA401363615 | GAA | c.830C>T (p.Thr277Ile) | ClinVar dbSNP |
17 | g.80107696del | CA2695227071 | GAA | c.832del (p.Leu278CysfsTer?) | |
17 | g.80107695C>A | CA502402705 | GAA | c.831C>A (p.Thr277=) | |
17 | g.80107695C= | CA2277812316 | GAA | c.831C= (p.Thr277=) | |
17 | g.80107695C>G | CA294889703 | GAA | c.831C>G (p.Thr277=) | dbSNP |
17 | g.80107695C>T | CA502402706 | GAA | c.831C>T (p.Thr277=) | |
17 | g.80107696C>A | CA401363621 | GAA | c.832C>A (p.Leu278Met) | |
17 | g.80107696C= | CA2277812317 | GAA | c.832C= (p.Leu278=) | |
17 | g.80107696C>G | CA401363622 | GAA | c.832C>G (p.Leu278Val) | |
17 | g.80107696C>T | CA502402707 | GAA | c.832C>T (p.Leu278=) | dbSNP |
17 | g.80107696_80107697del | CA913184772 | GAA | c.832_833del (p.Leu278ValfsTer?) | |
17 | g.80107697T>A | CA401363625 | GAA | c.833T>A (p.Leu278Gln) | |
17 | g.80107697T>C | CA401363626 | GAA | c.833T>C (p.Leu278Pro) | |
17 | g.80107697T>G | CA401363628 | GAA | c.833T>G (p.Leu278Arg) | |
17 | g.80107698G>A | CA8815023 | GAA | c.834G>A (p.Leu278=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107698G>C | CA502402708 | GAA | c.834G>C (p.Leu278=) | |
17 | g.80107698G= | CA2277812318 | GAA | c.834G= (p.Leu278=) | |
17 | g.80107698G>T | CA502402709 | GAA | c.834G>T (p.Leu278=) | |
17 | g.80107699T>A | CA401363631 | GAA | c.835T>A (p.Trp279Arg) | |
17 | g.80107699T>C | CA401363632 | GAA | c.835T>C (p.Trp279Arg) | |
17 | g.80107699T>G | CA401363635 | GAA | c.835T>G (p.Trp279Gly) | |
17 | g.80107700G>A | CA401363637 | GAA | c.836G>A (p.Trp279Ter) | ClinVar dbSNP |
17 | g.80107700G>C | CA401363638 | GAA | c.836G>C (p.Trp279Ser) | |
17 | g.80107700G= | CA2277812319 | GAA | c.836G= (p.Trp279=) | |
17 | g.80107700G>T | CA401363640 | GAA | c.836G>T (p.Trp279Leu) | |
17 | g.80107701G>A | CA401363645 | GAA | c.837G>A (p.Trp279Ter) | |
17 | g.80107701G>C | CA401363644 | GAA | c.837G>C (p.Trp279Cys) | dbSNP gnomAD v2 |
17 | g.80107701G= | CA2277812320 | GAA | c.837G= (p.Trp279=) | |
17 | g.80107701G>T | CA401363642 | GAA | c.837G>T (p.Trp279Cys) | ClinVar |
17 | g.80107702A>C | CA401363649 | GAA | c.838A>C (p.Asn280His) | |
17 | g.80107702A>G | CA401363647 | GAA | c.838A>G (p.Asn280Asp) | |
17 | g.80107702A>T | CA401363651 | GAA | c.838A>T (p.Asn280Tyr) | |
17 | g.80107703A= | CA2277812321 | GAA | c.839A= (p.Asn280=) | |
17 | g.80107703A>C | CA401363653 | GAA | c.839A>C (p.Asn280Thr) | |
17 | g.80107703A>G | CA401363655 | GAA | c.839A>G (p.Asn280Ser) | |
17 | g.80107703A>T | CA401363657 | GAA | c.839A>T (p.Asn280Ile) | |
17 | g.80107704C>A | CA401363659 | GAA | c.840C>A (p.Asn280Lys) | |
17 | g.80107704C= | CA2277812322 | GAA | c.840C= (p.Asn280=) | |
17 | g.80107704C>G | CA8815024 | GAA | c.840C>G (p.Asn280Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107704C>T | CA502402710 | GAA | c.840C>T (p.Asn280=) | |
17 | g.80107704_80107706dup | CA658683065 | GAA | c.840_842dup (p.Arg281_Asp282insArg) | ClinVar dbSNP |
17 | g.80107705C>A | CA502402711 | GAA | c.841C>A (p.Arg281=) | ClinVar |
17 | g.80107705C= | CA2277812323 | GAA | c.841C= (p.Arg281=) | |
17 | g.80107705C>G | CA401363661 | GAA | c.841C>G (p.Arg281Gly) | |
17 | g.80107705C>T | CA8815025 | GAA | c.841C>T (p.Arg281Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107706G>A | CA8815026 | GAA | c.842G>A (p.Arg281Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107706G>C | CA401363665 | GAA | c.842G>C (p.Arg281Pro) | |
17 | g.80107706G= | CA2277812324 | GAA | c.842G= (p.Arg281=) | |
17 | g.80107706G>T | CA401363667 | GAA | c.842G>T (p.Arg281Leu) | |
17 | g.80107707G>A | CA502402712 | GAA | c.843G>A (p.Arg281=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107707G>C | CA502402713 | GAA | c.843G>C (p.Arg281=) | |
17 | g.80107707G= | CA2277812325 | GAA | c.843G= (p.Arg281=) | |
17 | g.80107707G>T | CA502402714 | GAA | c.843G>T (p.Arg281=) | gnomAD v4 |
17 | g.80107708G>A | CA401363673 | GAA | c.844G>A (p.Asp282Asn) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107708G>C | CA401363671 | GAA | c.844G>C (p.Asp282His) | ClinVar |
17 | g.80107708G= | CA2277812326 | GAA | c.844G= (p.Asp282=) | |
17 | g.80107708G>T | CA401363669 | GAA | c.844G>T (p.Asp282Tyr) | gnomAD v4 |
17 | g.80107709A>C | CA401363674 | GAA | c.845A>C (p.Asp282Ala) | |
17 | g.80107709A>G | CA401363675 | GAA | c.845A>G (p.Asp282Gly) | |
17 | g.80107709A>T | CA401363678 | GAA | c.845A>T (p.Asp282Val) | |
17 | g.80107710C>A | CA401363680 | GAA | c.846C>A (p.Asp282Glu) | |
17 | g.80107710C= | CA2277812327 | GAA | c.846C= (p.Asp282=) | |
17 | g.80107710C>G | CA401363682 | GAA | c.846C>G (p.Asp282Glu) | |
17 | g.80107710C>T | CA294889707 | GAA | c.846C>T (p.Asp282=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107711C>A | CA401363684 | GAA | c.847C>A (p.Leu283Ile) | |
17 | g.80107711C>G | CA401363686 | GAA | c.847C>G (p.Leu283Val) | |
17 | g.80107711C>T | CA401363688 | GAA | c.847C>T (p.Leu283Phe) | gnomAD v4 |
17 | g.80107712T>A | CA401363689 | GAA | c.848T>A (p.Leu283His) | |
17 | g.80107712T>C | CA401363691 | GAA | c.848T>C (p.Leu283Pro) | |
17 | g.80107712T>G | CA401363693 | GAA | c.848T>G (p.Leu283Arg) | |
17 | g.80107713T>A | CA502402715 | GAA | c.849T>A (p.Leu283=) | |
17 | g.80107713T>C | CA502402716 | GAA | c.849T>C (p.Leu283=) | ClinVar dbSNP |
17 | g.80107713T>G | CA502402717 | GAA | c.849T>G (p.Leu283=) | |
17 | g.80107714G>A | CA8815027 | GAA | c.850G>A (p.Ala284Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107714G>C | CA401363697 | GAA | c.850G>C (p.Ala284Pro) | |
17 | g.80107714G= | CA2277812328 | GAA | c.850G= (p.Ala284=) | |
17 | g.80107714G>T | CA401363695 | GAA | c.850G>T (p.Ala284Ser) | |
17 | g.80107715C>A | CA401363699 | GAA | c.851C>A (p.Ala284Glu) | ClinVar |
17 | g.80107715C= | CA2277812329 | GAA | c.851C= (p.Ala284=) | |
17 | g.80107715C>G | CA8815028 | GAA | c.851C>G (p.Ala284Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107715C>T | CA8815029 | GAA | c.851C>T (p.Ala284Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107716G>A | CA198776 | GAA | c.852G>A (p.Ala284=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107716G>C | CA502402718 | GAA | c.852G>C (p.Ala284=) | |
17 | g.80107716G= | CA2277812330 | GAA | c.852G= (p.Ala284=) | |
17 | g.80107716G>T | CA294889733 | GAA | c.852G>T (p.Ala284=) | dbSNP gnomAD v4 |
17 | g.80107717C>A | CA401363703 | GAA | c.853C>A (p.Pro285Thr) c.853C>A | |
17 | g.80107717C= | CA2277812331 | GAA | c.853C= (p.Pro285=) c.853C= | |
17 | g.80107717C>G | CA401363705 | GAA | c.853C>G (p.Pro285Ala) c.853C>G | |
17 | g.80107717C>T | CA10603793 | GAA | c.853C>T (p.Pro285Ser) c.853C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107718C>A | CA401363708 | GAA | c.854C>A (p.Pro285His) c.854C>A | |
17 | g.80107718C= | CA2277812332 | GAA | c.854C= (p.Pro285=) c.854C= | |
17 | g.80107718C>G | CA358045 | GAA | c.854C>G (p.Pro285Arg) c.854C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107718C>T | CA8815030 | GAA | c.854C>T (p.Pro285Leu) c.854C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107719C>A | CA8815031 | GAA | c.855C>A (p.Pro285=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107719C= | CA2277812333 | GAA | c.855C= (p.Pro285=) | |
17 | g.80107719C>G | CA502402719 | GAA | c.855C>G (p.Pro285=) | |
17 | g.80107719C>T | CA502402720 | GAA | c.855C>T (p.Pro285=) | gnomAD v4 |
17 | g.80107720del | CA2739268463 | GAA | c.856del (p.Thr286ArgfsTer28) | ClinVar |
17 | g.80107720A>C | CA401363717 | GAA | c.856A>C (p.Thr286Pro) | |
17 | g.80107720A>G | CA401363715 | GAA | c.856A>G (p.Thr286Ala) | |
17 | g.80107720A>T | CA401363713 | GAA | c.856A>T (p.Thr286Ser) | |
17 | g.80107721C>A | CA401363719 | GAA | c.857C>A (p.Thr286Lys) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107721C= | CA2277812334 | GAA | c.857C= (p.Thr286=) | |
17 | g.80107721C>G | CA401363722 | GAA | c.857C>G (p.Thr286Arg) | |
17 | g.80107721C>T | CA8815032 | GAA | c.857C>T (p.Thr286Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107722G>A | CA294889742 | GAA | c.858G>A (p.Thr286=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107722G>C | CA502402721 | GAA | c.858G>C (p.Thr286=) | |
17 | g.80107722G= | CA2277812335 | GAA | c.858G= (p.Thr286=) | |
17 | g.80107722G>T | CA502402722 | GAA | c.858G>T (p.Thr286=) | |
17 | g.80107723del | CA2640279897 | GAA | c.858+1del | gnomAD v4 |
17 | g.80107723G>A | CA401363726 | GAA | c.858+1G>A (n.858+1G>A) | ClinVar |
17 | g.80107723G>C | CA401363727 | GAA | c.858+1G>C (n.858+1G>C) | |
17 | g.80107723G= | CA2277812336 | GAA | c.858+1G= (n.858+1G=) | |
17 | g.80107723G>T | CA401363729 | GAA | c.858+1G>T (n.858+1G>T) | gnomAD v4 |
17 | g.80107723_80107724insAGCGGGC | CA294889744 | GAA | c.858+1_858+2insAGCGGGC (n.858+1_858+2insAGCGGGC) | dbSNP |
17 | g.80107724T>A | CA401363732 | GAA | c.858+2T>A (n.858+2T>A) | ClinVar dbSNP |
17 | g.80107724T>C | CA401363734 | GAA | c.858+2T>C (n.858+2T>C) | |
17 | g.80107724T>G | CA401363736 | GAA | c.858+2T>G (n.858+2T>G) | |
17 | g.80107724T= | CA2277812337 | GAA | c.858+2T= (n.858+2T=) | |
17 | g.80107725A= | CA2277812338 | GAA | c.858+3A= (n.858+3A=) | |
17 | g.80107725_80107726insGAG | CA8815033 | GAA | c.858+3_858+4insGAG (n.858+3_858+4insGAG) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107726C= | CA2277812339 | GAA | c.858+4C= (n.858+4C=) | |
17 | g.80107726C>G | CA10604590 | GAA | c.858+4C>G (n.858+4C>G) | ClinVar dbSNP |
17 | g.80107727A= | CA2277812341 | GAA | c.858+5A= (n.858+5A=) | |
17 | g.80107727A>G | CA2277812342 | GAA | c.858+5A>G (n.858+5A>G) | ClinVar dbSNP gnomAD v4 |
17 | g.80107729_80107730insAGCGAGC | CA2734096656 | GAA | c.858+7_858+8insAGCGAGC (n.858+7_858+8insAGCGAGC) | dbSNP |
17 | g.80107727_80107733delinsAGCGGCG | CA2277812340 | GAA | c.858+5_858+11delinsAGCGGCG (n.858+5_858+11delinsAGCGGCG) | |
17 | g.80107727_80107733dup | CA2277812344 | GAA | c.858+5_858+11dup (n.858+5_858+11dup) | ClinVar dbSNP |
17 | g.80107727_80107734delinsAGCGGCGG | CA2277812343 | GAA | c.858+5_858+12delinsAGCGGCGG (n.858+5_858+12delinsAGCGGCGG) | |
17 | g.80107727_80107728insACAGCGG | CA2640279962 | GAA | c.858+5_858+6insACAGCGG (n.858+5_858+6insACAGCGG) | gnomAD v4 |
17 | g.80107728G>A | CA658795240 | GAA | c.858+6G>A (n.858+6G>A) | |
17 | g.80107728G= | CA2277812345 | GAA | c.858+6G= (n.858+6G=) | |
17 | g.80107728G>T | CA8815039 | GAA | c.858+6G>T (n.858+6G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107728_80107729insGCAGCGG | CA294889789 | GAA | c.858+6_858+7insGCAGCGG (n.858+6_858+7insGCAGCGG) | dbSNP |
17 | g.80107728_80107729insTAGCGGG | CA2576413981 | GAA | c.858+6_858+7insTAGCGGG (n.858+6_858+7insTAGCGGG) | |
17 | g.80107729_80107730insAATGGGC | CA2640279941 | GAA | c.858+7_858+8insAATGGGC (n.858+7_858+8insAATGGGC) | gnomAD v4 |
17 | g.80107729_80107730insACCGGGC | CA2499225003 | GAA | c.858+7_858+8insACCGGGC (n.858+7_858+8insACCGGGC) | ClinVar dbSNP |
17 | g.80107729_80107730insAGCAGGC | CA8815037 | GAA | c.858+7_858+8insAGCAGGC (n.858+7_858+8insAGCAGGC) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107729_80107730insAGCGGGC | CA145794 | GAA | c.858+7_858+8insAGCGGGC (n.858+7_858+8insAGCGGGC) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107729_80107730insAGTGGGC | CA8815036 | GAA | c.858+7_858+8insAGTGGGC (n.858+7_858+8insAGTGGGC) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107729_80107730insAGCGGGCAGCGGGC | CA2580095280 | GAA | c.858+7_858+8insAGCGGGCAGCGGGC (n.858+7_858+8insAGCGGGCAGCGGGC) | ClinVar |
17 | g.80107729_80107730insAGCGGGCGGCGGGC | CA8815035 | GAA | c.858+7_858+8insAGCGGGCGGCGGGC (n.858+7_858+8insAGCGGGCGGCGGGC) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107729_80107730insAGCGGGTGGCGGGC | CA915952248 | GAA | c.858+7_858+8insAGCGGGTGGCGGGC (n.858+7_858+8insAGCGGGTGGCGGGC) | ClinVar dbSNP |
17 | g.80107729_80107730insAGCGGGCGGCGGGCGGCGGGC | CA628018323 | GAA | c.858+7_858+8insAGCGGGCGGCGGGCGGCGGGC (n.858+7_858+8insAGCGGGCGGCGGGCGGCGGGC) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107729_80107730insAGCGGGCGGCGAGCAGCGGGC | CA2640279956 | GAA | c.858+7_858+8insAGCGGGCGGCGAGCAGCGGGC (n.858+7_858+8insAGCGGGCGGCGAGCAGCGGGC) | gnomAD v4 |
17 | g.80107729_80107730insAGCGGGCGGCGGGCAGCGGGC | CA915952249 | GAA | c.858+7_858+8insAGCGGGCGGCGGGCAGCGGGC (n.858+7_858+8insAGCGGGCGGCGGGCAGCGGGC) | ClinVar dbSNP gnomAD v4 |
17 | g.80107728_80107731dup | CA2640279947 | GAA | c.858+6_858+9dup (n.858+6_858+9dup) | gnomAD v4 |
17 | g.80107728_80107733delinsAGCGGGC | CA919905406 | GAA | c.858+6_858+11delinsAGCGGGC (n.858+6_858+11delinsAGCGGGC) | dbSNP |
17 | g.80107739_80107745dup | CA180075 | GAA | c.858+17_858+23dup (n.858+17_858+23dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107739_80107745del | CA8815034 | GAA | c.858+17_858+23del (n.858+17_858+23del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107729C= | CA2277812346 | GAA | c.858+7C= (n.858+7C=) | |
17 | g.80107729C>T | CA294889796 | GAA | c.858+7C>T (n.858+7C>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107729_80107730insAGCGGAC | CA8815038 | GAA | c.858+7_858+8insAGCGGAC (n.858+7_858+8insAGCGGAC) | dbSNP ExAC |
17 | g.80107729_80107730insAGCGGTC | CA2733929470 | GAA | c.858+7_858+8insAGCGGTC (n.858+7_858+8insAGCGGTC) | dbSNP |
17 | g.80107729_80107732delinsCGGC | CA2277812347 | GAA | c.858+7_858+10delinsCGGC (n.858+7_858+10delinsCGGC) | |
17 | g.80107729_80107730insA | CA628018324 | GAA | c.858+7_858+8insA (n.858+7_858+8insA) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107729_80107730insAGCG | CA8815040 | GAA | c.858+7_858+8insAGCG (n.858+7_858+8insAGCG) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107729_80107730insAGCGGGA | CA2733929157 | GAA | c.858+7_858+8insAGCGGGA (n.858+7_858+8insAGCGGGA) | dbSNP |
17 | g.80107729_80107730insAGCGGGG | CA2733929158 | GAA | c.858+7_858+8insAGCGGGG (n.858+7_858+8insAGCGGGG) | dbSNP |
17 | g.80107729_80107730insAGCGGGT | CA8815041 | GAA | c.858+7_858+8insAGCGGGT (n.858+7_858+8insAGCGGGT) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107729_80107730insAGCGGTA | CA2733929160 | GAA | c.858+7_858+8insAGCGGTA (n.858+7_858+8insAGCGGTA) | dbSNP |
17 | g.80107729_80107730insAGGGGGG | CA2733929159 | GAA | c.858+7_858+8insAGGGGGG (n.858+7_858+8insAGGGGGG) | dbSNP |
17 | g.80107730G>A | CA152922 | GAA | c.858+8G>A (n.858+8G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.80107730G= | CA2277812348 | GAA | c.858+8G= (n.858+8G=) | |
17 | g.80107730G>T | CA2640279974 | GAA | c.858+8G>T (n.858+8G>T) | gnomAD v4 |
17 | g.80107730_80107732delinsAGCGGGCGGT | CA658798977 | GAA | c.858+8_858+10delinsAGCGGGCGGT (n.858+8_858+10delinsAGCGGGCGGT) | ClinVar dbSNP |
17 | g.80107730_80107731insCGGGCA | CA628018325 | GAA | c.858+8_858+9insCGGGCA (n.858+8_858+9insCGGGCA) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107731G>A | CA2580095282 | GAA | c.858+9G>A (n.858+9G>A) | ClinVar gnomAD v4 |
17 | g.80107732C>A | CA8815043 | GAA | c.858+10C>A (n.858+10C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107732C= | CA2277812349 | GAA | c.858+10C= (n.858+10C=) | |
17 | g.80107732C>T | CA8815044 | GAA | c.858+10C>T (n.858+10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107733G>A | CA628018326 | GAA | c.858+11G>A (n.858+11G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107733G= | CA2277812350 | GAA | c.858+11G= (n.858+11G=) | |
17 | g.80107734_80107735insTGG | CA8815042 | GAA | c.858+12_858+13insTGG (n.858+12_858+13insTGG) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |