Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.169763862_169764683delinsATCCTAAGGAATTGAAGGTATGGATTTGGGACGGAATTACCTTGTCGTGATAAGTGGGCAGAATGGCCTGTTTGTTTCTTTCAACCTAGTGGGCCATTAGCTTATTTTCTTAAAGGAAATCAGAGCCAATTCTTGTGGGAGACTGCCGGCTGGGAGGGTTGGGGGTGGGGGGTGTGGAATAAATTTCTTTTCCGTCTTTCATTATGCCTAGTGTTCCGTTATTGGAACGCTAAGCTTGTGGGGGTTATATCCTACTGCTCAAGGTCATCGCCAAGGTCTAATTTTTCAAAAAAGAAACTTCTAACCTCTGGCATAAACCGATGACCATTAAAGGAACACAATTTCCAATGTTCATTTAGATCTTCTAATTAAATATTCATTAAATGTTAAATGATCTCTCAAAAAAAAATGACTGTTCTCCCACACCCCGTTGAGGGGACTGGTCGAGATCTACCTTGGGAGAAGCAAAAACCTCAACAAAATCTGCAGAGCAGGAACTAAGTTGTAATACAACCATAAAAGGCAACAAAAAGCGGAAGACGGGAGAACCCACGCAGGAACGGCTCCAGGCAACCCCGGCTCACTGCCCATTCATTTTGGCCGACTTTGGAGGTGCCTTCACGTCTCCTGCCAATTTGCAGCACACTGGCCCAGTCAGTCAGGTTTGGGGGTTCACAAGCCCCCATTGCCGGCGAGGGGTGACGGATGCGCACGATCGGCGTTCCCCCCACCAACAGGAAAGCGAACTGCATGTGTGAGCCGAGTCCTGGGTGCACGTCCCACAGCTCAGGGAATCGCGCCGCGCGCGGGGACTCGCTCCGT | CA1419635826 | |||
3 | g.169763867_169764687del | CA340670 | ClinVar dbSNP | ||
3 | g.169764454_169764457dup | CA902377380 | dbSNP | ||
3 | g.169764454_169764457del | CA548332308 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764454C>T | CA2668472023 | gnomAD v4 | ||
3 | g.169764455A= | CA1419636156 | |||
3 | g.169764455A>C | CA87623452 | dbSNP | ||
3 | g.169764459del | CA2668472024 | gnomAD v4 | ||
3 | g.169764457T>G | CA2668472025 | gnomAD v4 | ||
3 | g.169764458T>C | CA2668472026 | dbSNP gnomAD v4 | ||
3 | g.169764458T>G | CA1419636158 | dbSNP gnomAD v4 | ||
3 | g.169764458T= | CA1419636157 | |||
3 | g.169764459T>A | CA2544580552 | |||
3 | g.169764459T>C | CA87623470 | dbSNP gnomAD v4 | ||
3 | g.169764459T= | CA1419636159 | |||
3 | g.169764460G>T | CA2668472027 | gnomAD v4 | ||
3 | g.169764461G>A | CA2668472029 | gnomAD v4 | ||
3 | g.169764461G>T | CA2668472028 | gnomAD v4 | ||
3 | g.169764462C>A | CA2516910525 | gnomAD v4 | ||
3 | g.169764462C>T | CA2668472030 | gnomAD v4 | ||
3 | g.169764463C>A | CA2668472031 | gnomAD v4 | ||
3 | g.169764463C= | CA1419636160 | |||
3 | g.169764463C>G | CA2548479075 | |||
3 | g.169764463C>T | CA902377385 | dbSNP gnomAD v4 | ||
3 | g.169764464G>A | CA87623478 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764464G= | CA1419636161 | |||
3 | g.169764464G>T | CA2668472032 | gnomAD v4 | ||
3 | g.169764466C>A | CA1056208792 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764466C= | CA1419636162 | |||
3 | g.169764466C>T | CA902377389 | dbSNP | ||
3 | g.169764469T>G | CA1419636164 | dbSNP | ||
3 | g.169764469T= | CA1419636163 | |||
3 | g.169764470G>T | CA2668472033 | gnomAD v4 | ||
3 | g.169764471G>C | CA1419636166 | dbSNP gnomAD v4 | ||
3 | g.169764471G= | CA1419636165 | |||
3 | g.169764472A>C | CA2668472034 | gnomAD v4 | ||
3 | g.169764472A>G | CA2668472035 | gnomAD v4 | ||
3 | g.169764472A>T | CA2759342017 | |||
3 | g.169764473G>A | CA87623480 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764473G= | CA1419636167 | |||
3 | g.169764474del | CA2668472036 | gnomAD v4 | ||
3 | g.169764474G>A | CA1419636169 | dbSNP | ||
3 | g.169764474G= | CA1419636168 | |||
3 | g.169764475T>C | CA2668472037 | gnomAD v4 | ||
3 | g.169764476G>A | CA2668472038 | dbSNP gnomAD v4 | ||
3 | g.169764477C>A | CA902377392 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764477C= | CA1419636170 | |||
3 | g.169764477C>G | CA902377393 | dbSNP | ||
3 | g.169764477C>T | CA2668472039 | gnomAD v4 | ||
3 | g.169764478C= | CA1419636171 | |||
3 | g.169764478C>T | CA87623485 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764479T>C | CA2668472041 | gnomAD v4 | ||
3 | g.169764480del | CA2668472040 | gnomAD v4 | ||
3 | g.169764481C>A | CA2668472042 | gnomAD v4 | ||
3 | g.169764481C>G | CA2668472043 | gnomAD v4 | ||
3 | g.169764482A= | CA1419636172 | |||
3 | g.169764482A>T | CA902377395 | dbSNP | ||
3 | g.169764482dup | CA2668472044 | gnomAD v4 | ||
3 | g.169764483C>A | CA2668472045 | gnomAD v4 | ||
3 | g.169764483C= | CA1419636173 | |||
3 | g.169764483C>G | CA548332309 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764484G>A | CA1419636175 | dbSNP gnomAD v4 | ||
3 | g.169764484G= | CA1419636174 | |||
3 | g.169764484G>T | CA548332310 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764485T>C | CA1419636177 | dbSNP | ||
3 | g.169764485T= | CA1419636176 | |||
3 | g.169764486C= | CA1419636178 | |||
3 | g.169764486C>T | CA548332311 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764488_169764490del | CA2668472046 | gnomAD v4 | ||
3 | g.169764487T>C | CA1419636180 | dbSNP | ||
3 | g.169764487T>G | CA1419636181 | dbSNP | ||
3 | g.169764487T= | CA1419636179 | |||
3 | g.169764488C= | CA1419636182 | |||
3 | g.169764488C>T | CA1419636183 | dbSNP | ||
3 | g.169764490T>C | CA902377399 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764490T= | CA1419636184 | |||
3 | g.169764491G>A | CA2668472047 | gnomAD v4 | ||
3 | g.169764492C>A | CA2759342018 | |||
3 | g.169764492C>T | CA2668472048 | gnomAD v4 | ||
3 | g.169764493C>T | CA2668472049 | gnomAD v4 | ||
3 | g.169764494A>G | CA2668472050 | gnomAD v4 | ||
3 | g.169764495A>G | CA2668472051 | gnomAD v4 | ||
3 | g.169764497T>A | CA2668472052 | gnomAD v4 | ||
3 | g.169764497T>C | CA2668472053 | gnomAD v4 | ||
3 | g.169764499G>A | CA902377401 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764499G>C | CA902377402 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764499G= | CA1419636185 | |||
3 | g.169764499G>T | CA2668472054 | gnomAD v4 | ||
3 | g.169764500C>T | CA2668472055 | gnomAD v4 | ||
3 | g.169764502G>A | CA2668472056 | gnomAD v4 | ||
3 | g.169764502G>C | CA548332312 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764502G= | CA1419636186 | |||
3 | g.169764502G>T | CA2668472057 | gnomAD v4 | ||
3 | g.169764503C>A | CA2668472058 | gnomAD v4 | ||
3 | g.169764503C>T | CA2668472059 | gnomAD v4 | ||
3 | g.169764504A>G | CA2668472060 | gnomAD v4 | ||
3 | g.169764505C>A | CA2668472061 | gnomAD v4 | ||
3 | g.169764506A= | CA1419636187 | |||
3 | g.169764506A>G | CA87623493 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764507C>A | CA2668472062 | gnomAD v4 | ||
3 | g.169764507C= | CA1419636188 | |||
3 | g.169764507C>G | CA2668472063 | gnomAD v4 | ||
3 | g.169764507C>T | CA87623496 | dbSNP gnomAD v4 | ||
3 | g.169764508T>A | CA2841983749 | |||
3 | g.169764508T>G | CA1419636189 | dbSNP | ||
3 | g.169764508T= | CA1419636190 | |||
3 | g.169764509G>A | CA2668472064 | dbSNP gnomAD v4 | ||
3 | g.169764509G>T | CA2668472065 | gnomAD v4 | ||
3 | g.169764510G>A | CA2668472066 | gnomAD v4 | ||
3 | g.169764510G>C | CA548332313 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764510G= | CA1419636191 | |||
3 | g.169764510G>T | CA2668472067 | gnomAD v4 | ||
3 | g.169764511C>A | CA2668472068 | gnomAD v4 | ||
3 | g.169764511C>T | CA2668472069 | gnomAD v4 | ||
3 | g.169764512C>A | CA2668472070 | gnomAD v4 | ||
3 | g.169764512C= | CA1419636193 | |||
3 | g.169764512C>G | CA2668472071 | gnomAD v4 | ||
3 | g.169764512C>T | CA1419636194 | dbSNP | ||
3 | g.169764512_169764516delinsCCAGT | CA1419636192 | |||
3 | g.169764513C>A | CA2668472072 | gnomAD v4 | ||
3 | g.169764513C>T | CA2668472073 | gnomAD v4 | ||
3 | g.169764520_169764523del | CA548332314 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764514A>C | CA2668472074 | gnomAD v4 | ||
3 | g.169764514A>G | CA2668472075 | gnomAD v4 | ||
3 | g.169764517C>A | CA87623502 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764517C= | CA1419636195 | |||
3 | g.169764517C>G | CA1056208806 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764518A>T | CA2668472076 | gnomAD v4 | ||
3 | g.169764519G>A | CA2668472077 | gnomAD v4 | ||
3 | g.169764520T>A | CA436714418 | |||
3 | g.169764520T>C | CA436714419 | |||
3 | g.169764520T>G | CA436714420 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764520T= | CA1419636196 | |||
3 | g.169764521C>A | CA436714426 | gnomAD v4 | ||
3 | g.169764521C= | CA1419636197 | |||
3 | g.169764521C>G | CA436714424 | |||
3 | g.169764521C>T | CA436714422 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764522A>C | CA436714427 | gnomAD v4 | ||
3 | g.169764522A>G | CA436714428 | gnomAD v4 | ||
3 | g.169764522A>T | CA436714429 | |||
3 | g.169764523G>A | CA436714430 | |||
3 | g.169764523G>C | CA436714431 | |||
3 | g.169764523G>T | CA436714433 | gnomAD v4 | ||
3 | g.169764524G>A | CA87623503 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764524G>C | CA436714434 | |||
3 | g.169764524G= | CA1419636198 | |||
3 | g.169764524G>T | CA436714435 | gnomAD v4 | ||
3 | g.169764525T>A | CA436714436 | |||
3 | g.169764525T>C | CA436714437 | gnomAD v4 | ||
3 | g.169764525T>G | CA436714438 | gnomAD v4 | ||
3 | g.169764526T>A | CA436714443 | dbSNP gnomAD v4 | ||
3 | g.169764526T>C | CA436714441 | gnomAD v4 | ||
3 | g.169764526T>G | CA436714440 | |||
3 | g.169764526T= | CA1419636199 | |||
3 | g.169764527T>A | CA436714444 | |||
3 | g.169764527T>C | CA436714445 | |||
3 | g.169764527T>G | CA436714446 | |||
3 | g.169764527_169764528delinsTG | CA1419636200 | |||
3 | g.169764528G>A | CA436714447 | |||
3 | g.169764528G>C | CA436714448 | dbSNP gnomAD v4 | ||
3 | g.169764528G= | CA1419636202 | |||
3 | g.169764528G>T | CA436714449 | |||
3 | g.169764532dup | CA1419636201 | dbSNP | ||
3 | g.169764532del | CA548332315 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764529G>A | CA436714450 | gnomAD v4 | ||
3 | g.169764529G>C | CA436714451 | |||
3 | g.169764529G= | CA1419636203 | |||
3 | g.169764529G>T | CA87623504 | dbSNP gnomAD v4 | ||
3 | g.169764530G>A | CA436714452 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764530G>C | CA436714454 | |||
3 | g.169764530G= | CA1419636204 | |||
3 | g.169764530G>T | CA436714455 | |||
3 | g.169764531G>A | CA436714460 | |||
3 | g.169764531G>C | CA436714458 | gnomAD v4 | ||
3 | g.169764531G>T | CA436714456 | |||
3 | g.169764532G>A | CA436714461 | dbSNP gnomAD v4 | ||
3 | g.169764532G>C | CA436714462 | gnomAD v4 | ||
3 | g.169764532G= | CA1419636205 | |||
3 | g.169764532G>T | CA436714463 | gnomAD v4 | ||
3 | g.169764533T>A | CA436714464 | |||
3 | g.169764533T>C | CA436714465 | gnomAD v4 | ||
3 | g.169764533T>G | CA436714466 | gnomAD v4 | ||
3 | g.169764534T>A | CA436714470 | |||
3 | g.169764534T>C | CA436714469 | |||
3 | g.169764534T>G | CA436714468 | |||
3 | g.169764535C>A | CA436714473 | gnomAD v4 | ||
3 | g.169764535C>G | CA436714474 | |||
3 | g.169764535C>T | CA436714475 | gnomAD v4 | ||
3 | g.169764536A>C | CA436714476 | |||
3 | g.169764536A>G | CA436714477 | |||
3 | g.169764536A>T | CA436714479 | gnomAD v4 | ||
3 | g.169764537C>A | CA436714481 | gnomAD v4 | ||
3 | g.169764537C>G | CA436714483 | gnomAD v4 | ||
3 | g.169764537C>T | CA436714482 | gnomAD v4 | ||
3 | g.169764538A= | CA1419636206 | |||
3 | g.169764538A>C | CA436714484 | dbSNP gnomAD v4 | ||
3 | g.169764538A>G | CA436714485 | dbSNP gnomAD v4 | ||
3 | g.169764538A>T | CA436714486 | gnomAD v4 | ||
3 | g.169764539A= | CA1419636207 | |||
3 | g.169764539A>C | CA436714487 | gnomAD v4 | ||
3 | g.169764539A>G | CA436714488 | gnomAD v4 | ||
3 | g.169764539A>T | CA436714490 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764540G>A | CA436714492 | gnomAD v4 | ||
3 | g.169764540G>C | CA436714493 | |||
3 | g.169764540G>T | CA436714494 | |||
3 | g.169764540_169764541delinsGC | CA1419636208 | |||
3 | g.169764541C>A | CA436714495 | gnomAD v4 | ||
3 | g.169764541C>G | CA436714496 | |||
3 | g.169764541C>T | CA436714497 | gnomAD v4 | ||
3 | g.169764545dup | CA2668472078 | gnomAD v4 | ||
3 | g.169764545del | CA87623510 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764542C>A | CA436714498 | gnomAD v4 | ||
3 | g.169764542C>G | CA436714500 | |||
3 | g.169764542C>T | CA436714499 | |||
3 | g.169764543C>A | CA436714501 | |||
3 | g.169764543C>G | CA436714502 | |||
3 | g.169764543C>T | CA436714503 | gnomAD v4 | ||
3 | g.169764544C>A | CA436714504 | gnomAD v4 | ||
3 | g.169764544C>G | CA436714505 | |||
3 | g.169764544C>T | CA436714506 | |||
3 | g.169764545C>A | CA436714507 | |||
3 | g.169764545C>G | CA436714508 | |||
3 | g.169764545C>T | CA436714509 | |||
3 | g.169764546A>C | CA436714510 | gnomAD v4 | ||
3 | g.169764546A>G | CA436714511 | gnomAD v4 | ||
3 | g.169764546A>T | CA436714512 | |||
3 | g.169764547T>A | CA87623520 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764547T>C | CA11427621 | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764547T>G | CA436714514 | dbSNP gnomAD v4 | ||
3 | g.169764547T= | CA1419636209 | |||
3 | g.169764548del | CA2668472079 | gnomAD v4 | ||
3 | g.169764548T>A | CA436714516 | |||
3 | g.169764548T>C | CA87623528 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764548T>G | CA436714517 | |||
3 | g.169764548T= | CA1419636210 | |||
3 | g.169764549G>A | CA436714518 | gnomAD v4 | ||
3 | g.169764549G>C | CA436714519 | |||
3 | g.169764549G>T | CA436714520 | gnomAD v4 | ||
3 | g.169764550C>A | CA436714521 | gnomAD v4 | ||
3 | g.169764550C>G | CA436714522 | |||
3 | g.169764550C>T | CA436714523 | gnomAD v4 | ||
3 | g.169764551C>A | CA436714524 | gnomAD v4 | ||
3 | g.169764551C= | CA1419636211 | |||
3 | g.169764551C>G | CA436714525 | |||
3 | g.169764551C>T | CA436714526 | dbSNP gnomAD v4 | ||
3 | g.169764552G>A | CA436714529 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.169764552G>C | CA436714530 | dbSNP | ||
3 | g.169764552G= | CA1419636212 | |||
3 | g.169764552G>T | CA436714528 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.169764552_169764553insACGACTGGCTAAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAAAA | CA2759342019 | |||
3 | g.169764553G>A | CA436714532 | gnomAD v4 | ||
3 | g.169764553G>C | CA436714531 | |||
3 | g.169764553G>T | CA436714533 | gnomAD v4 | ||
3 | g.169764554C>A | CA436714534 | gnomAD v4 | ||
3 | g.169764554C>G | CA436714535 | |||
3 | g.169764554C>T | CA436714537 | gnomAD v4 |