Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.48467643A= | CA1363031479 | ATRIP,TREX1 | c.*2089A= (n.*2089A=) c.*43A= (n.*43A=) c.3583A= c.*3808A= (n.*3808A=) n.2195A= c.3941A= (n.3941A=) n.4297A= | |
3 | g.48467643A>G | CA543045057 | ATRIP,TREX1 | c.*2089A>G (n.*2089A>G) c.*43A>G (n.*43A>G) c.3583A>G c.*3808A>G (n.*3808A>G) n.2195A>G c.3941A>G (n.3941A>G) n.4297A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.48467643A>T | CA2665603454 | ATRIP,TREX1 | c.*2089A>T (n.*2089A>T) c.*43A>T (n.*43A>T) c.3583A>T c.*3808A>T (n.*3808A>T) n.2195A>T c.3941A>T (n.3941A>T) n.4297A>T | gnomAD v4 |
3 | g.48467644T>C | CA2376774 | ATRIP,TREX1 | c.*2090T>C (n.*2090T>C) c.*44T>C (n.*44T>C) c.3584T>C c.*3809T>C (n.*3809T>C) n.2196T>C c.3942T>C (n.3942T>C) n.4298T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.48467644T>G | CA647879828 | ATRIP,TREX1 | c.*2090T>G (n.*2090T>G) c.*44T>G (n.*44T>G) c.3584T>G c.*3809T>G (n.*3809T>G) n.2196T>G c.3942T>G (n.3942T>G) n.4298T>G | COSMIC COSMIC |
3 | g.48467644T= | CA1363031480 | ATRIP,TREX1 | c.*2090T= (n.*2090T=) c.*44T= (n.*44T=) c.3584T= c.*3809T= (n.*3809T=) n.2196T= c.3942T= (n.3942T=) n.4298T= | |
3 | g.48467645A= | CA1363031481 | ATRIP,TREX1 | c.*2091A= (n.*2091A=) c.*45A= (n.*45A=) c.3585A= c.*3810A= (n.*3810A=) n.2197A= c.3943A= (n.3943A=) n.4299A= | |
3 | g.48467645A>G | CA1363031482 | ATRIP,TREX1 | c.*2091A>G (n.*2091A>G) c.*45A>G (n.*45A>G) c.3585A>G c.*3810A>G (n.*3810A>G) n.2197A>G c.3943A>G (n.3943A>G) n.4299A>G | dbSNP |
3 | g.48467645A>T | CA2665603456 | ATRIP,TREX1 | c.*2091A>T (n.*2091A>T) c.*45A>T (n.*45A>T) c.3585A>T c.*3810A>T (n.*3810A>T) n.2197A>T c.3943A>T (n.3943A>T) n.4299A>T | gnomAD v4 |
3 | g.48467646G>A | CA1047679308 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.48467646G= | CA1363031483 | |||
3 | g.48467647C>A | CA2665603458 | gnomAD v4 | ||
3 | g.48467648A>G | CA2665603459 | gnomAD v4 | ||
3 | g.48467649C>A | CA2665603463 | gnomAD v4 | ||
3 | g.48467649C= | CA1363031484 | |||
3 | g.48467649C>T | CA543045059 | dbSNP gnomAD v2 | ||
3 | g.48467650T= | CA1363031486 | |||
3 | g.48467652_48467655dup | CA1363031485 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.48467651G>A | CA2665603468 | gnomAD v4 | ||
3 | g.48467651_48467653dup | CA2376775 | dbSNP dbSNP ExAC gnomAD v2 gnomAD v4 | ||
3 | g.48467653G>T | CA2665603472 | gnomAD v4 | ||
3 | g.48467657_48467664del | CA2665603473 | gnomAD v4 | ||
3 | g.48467655G>A | CA2665603475 | gnomAD v4 | ||
3 | g.48467656del | CA2665603474 | gnomAD v4 | ||
3 | g.48467657T>C | CA2665603476 | gnomAD v4 | ||
3 | g.48467658C>A | CA2665603477 | gnomAD v4 | ||
3 | g.48467658C= | CA1363031487 | |||
3 | g.48467658C>T | CA73933521 | dbSNP | ||
3 | g.48467659A>G | CA2665603478 | gnomAD v4 | ||
3 | g.48467659A>T | CA2665603480 | gnomAD v4 | ||
3 | g.48467660A= | CA1363031488 | |||
3 | g.48467660A>G | CA73933525 | dbSNP | ||
3 | g.48467660A>T | CA2665603482 | gnomAD v4 | ||
3 | g.48467661T>C | CA543045060 | dbSNP dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.48467661T= | CA1363031489 | |||
3 | g.48467662_48467669del | CA2756154272 | |||
3 | g.48467662T>A | CA2665603486 | gnomAD v4 | ||
3 | g.48467662T>C | CA2665603488 | gnomAD v4 | ||
3 | g.48467664G>A | CA1363031491 | dbSNP gnomAD v4 | ||
3 | g.48467664G= | CA1363031490 | |||
3 | g.48467664G>T | CA73933526 | dbSNP gnomAD v4 | ||
3 | g.48467665C>A | CA2665603493 | gnomAD v4 | ||
3 | g.48467667C= | CA1363031492 | |||
3 | g.48467667C>G | CA2665603497 | gnomAD v4 | ||
3 | g.48467667C>T | CA73933527 | dbSNP dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.48467668C>T | CA2665603500 | gnomAD v4 | ||
3 | g.48467669T>C | CA1363031494 | dbSNP gnomAD v4 | ||
3 | g.48467669T>G | CA2665603501 | gnomAD v4 | ||
3 | g.48467669T= | CA1363031493 | |||
3 | g.48467670A= | CA1363031495 | |||
3 | g.48467670A>G | CA73933528 | dbSNP dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.48467670_48467671delinsAC | CA1363031496 | |||
3 | g.48467671C>A | CA2665603505 | gnomAD v4 | ||
3 | g.48467671C= | CA1363031497 | |||
3 | g.48467671C>T | CA907743325 | dbSNP dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.48467673dup | CA1363031498 | dbSNP | ||
3 | g.48467673del | CA907743323 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.48467672_48467684del | CA2756154274 | |||
3 | g.48467672C>A | CA2665603511 | gnomAD v4 | ||
3 | g.48467672C= | CA1363031499 | |||
3 | g.48467672C>T | CA73933531 | dbSNP dbSNP gnomAD v4 | ||
3 | g.48467672_48467675delinsCCTT | CA1363031500 | |||
3 | g.48467673C>A | CA2665603517 | gnomAD v4 | ||
3 | g.48467673C= | CA1363031501 | |||
3 | g.48467673C>T | CA73933543 | dbSNP gnomAD v4 | ||
3 | g.48467676_48467678dup | CA2665603515 | gnomAD v4 | ||
3 | g.48467676_48467678del | CA916887666 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.48467675T>C | CA2665603523 | gnomAD v4 | ||
3 | g.48467676C>A | CA2665603524 | gnomAD v4 | ||
3 | g.48467676C>T | CA2517678894 | gnomAD v4 | ||
3 | g.48467676_48467686del | CA2756154276 | |||
3 | g.48467677T>C | CA73933548 | dbSNP dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.48467677T= | CA1363031502 | |||
3 | g.48467679G>A | CA2665603528 | gnomAD v4 | ||
3 | g.48467679G>C | CA2665603527 | gnomAD v4 | ||
3 | g.48467681C>A | CA2665603530 | gnomAD v4 | ||
3 | g.48467681C>T | CA2665603533 | gnomAD v4 | ||
3 | g.48467683G>A | CA73933549 | dbSNP dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.48467683G= | CA1363031503 | |||
3 | g.48467683G>T | CA2665603541 | gnomAD v4 | ||
3 | g.48467684del | CA2756154278 | |||
3 | g.48467684C>A | CA2577586361 | gnomAD v4 | ||
3 | g.48467684C= | CA1363031504 | |||
3 | g.48467684C>T | CA73933550 | dbSNP dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.48467686_48467687del | CA2756154279 | |||
3 | g.48467685A>T | CA2665603546 | gnomAD v4 | ||
3 | g.48467686C>A | CA2665603547 | gnomAD v4 | ||
3 | g.48467686C>T | CA2665603548 | gnomAD v4 | ||
3 | g.48467687A>G | CA2665603550 | gnomAD v4 | ||
3 | g.48467690C= | CA1363031505 | |||
3 | g.48467690C>T | CA1363031506 | dbSNP gnomAD v4 | ||
3 | g.48467691C>T | CA2577586362 | gnomAD v4 | ||
3 | g.48467692T>C | CA2665603552 | gnomAD v4 | ||
3 | g.48467693C>A | CA2577586363 | |||
3 | g.48467694T>C | CA1363031508 | dbSNP gnomAD v4 | ||
3 | g.48467694T>G | CA2665603554 | gnomAD v4 | ||
3 | g.48467694T= | CA1363031507 | |||
3 | g.48467695G>A | CA907743331 | dbSNP dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.48467695G= | CA1363031509 | |||
3 | g.48467695G>T | CA543045061 | dbSNP dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.48467696C>T | CA2665603559 | gnomAD v4 | ||
3 | g.48467696_48467697insTA | CA2756154283 | |||
3 | g.48467697C= | CA1363031510 | |||
3 | g.48467697C>T | CA543045062 | dbSNP dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.48467698C>A | CA2577586364 | gnomAD v4 | ||
3 | g.48467698C>T | CA2577586365 | |||
3 | g.48467699A>G | CA2665603561 | gnomAD v4 | ||
3 | g.48467700C>A | CA2665603564 | gnomAD v4 | ||
3 | g.48467700C>T | CA2665603565 | gnomAD v4 | ||
3 | g.48467701A>G | CA2665603566 | gnomAD v4 | ||
3 | g.48467701A>T | CA2665603568 | gnomAD v4 | ||
3 | g.48467702C>A | CA2665603569 | gnomAD v4 | ||
3 | g.48467703C>A | CA2665603573 | gnomAD v4 | ||
3 | g.48467703C>T | CA2665603575 | gnomAD v4 | ||
3 | g.48467704C>A | CA2665603581 | gnomAD v4 | ||
3 | g.48467705A>G | CA2665603584 | gnomAD v4 | ||
3 | g.48467706G>A | CA543045063 | dbSNP dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.48467706G= | CA1363031511 | |||
3 | g.48467707G>T | CA2756154284 | |||
3 | g.48467708G>A | CA2665603588 | gnomAD v4 | ||
3 | g.48467708G>T | CA2665603592 | gnomAD v4 | ||
3 | g.48467709A= | CA1363031512 | |||
3 | g.48467709A>C | CA2665603595 | gnomAD v4 | ||
3 | g.48467709A>T | CA73933554 | dbSNP gnomAD v4 | ||
3 | g.48467710C>A | CA2756154285 | |||
3 | g.48467710C= | CA1363031513 | |||
3 | g.48467710C>T | CA1363031514 | dbSNP | ||
3 | g.48467710_48467711insACT | CA2756154286 | |||
3 | g.48467711C= | CA1363031515 | |||
3 | g.48467711C>T | CA73933561 | dbSNP dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.48467711_48467712insAGA | CA2756154288 | |||
3 | g.48467712T>A | CA2756154287 | |||
3 | g.48467712T>C | CA1363031517 | dbSNP dbSNP gnomAD v4 | ||
3 | g.48467712T= | CA1363031516 | |||
3 | g.48467713_48467716del | CA2756154289 | |||
3 | g.48467714_48467716del | CA2665603601 | gnomAD v4 | ||
3 | g.48467714G>A | CA2756154290 | |||
3 | g.48467715_48467716insTGTGG | CA2665603603 | gnomAD v4 | ||
3 | g.48467714_48467717delinsGGGA | CA1363031518 | |||
3 | g.48467723_48467981del | CA2756154291 | |||
3 | g.48467720_48467722del | CA1363031519 | dbSNP gnomAD v4 | ||
3 | g.48467715_48467716insTGT | CA2665603606 | gnomAD v4 | ||
3 | g.48467716G>A | CA73933566 | dbSNP gnomAD v4 | ||
3 | g.48467716G= | CA1363031520 | |||
3 | g.48467716G>T | CA2756154293 | |||
3 | g.48467718_48467725del | CA2756154294 | |||
3 | g.48467717_48467735delinsAGGAGGGCACAGTGTTTGT | CA1363031521 | |||
3 | g.48467718G>A | CA2665603611 | gnomAD v4 | ||
3 | g.48467718_48467735del | CA915942476 | ClinVar dbSNP | ||
3 | g.48467719G>T | CA2665603612 | gnomAD v4 | ||
3 | g.48467720del | CA2665603615 | gnomAD v4 | ||
3 | g.48467720A>G | CA2665603613 | gnomAD v4 | ||
3 | g.48467721G>A | CA2665603618 | gnomAD v4 | ||
3 | g.48467722G>A | CA2665603619 | gnomAD v4 | ||
3 | g.48467723G>A | CA2665603627 | gnomAD v4 | ||
3 | g.48467723G>C | CA2665603630 | gnomAD v4 | ||
3 | g.48467723G>T | CA2665603631 | gnomAD v4 | ||
3 | g.48467723_48467724del | CA2756154295 | |||
3 | g.48467723_48467740del | CA2756154296 | |||
3 | g.48467723_48467724insACC | CA2756154297 | |||
3 | g.48467723_48467724insACTC | CA2756154298 | |||
3 | g.48467723_48467724insACAAA | CA2665603635 | gnomAD v4 | ||
3 | g.48467724C>A | CA2665603639 | gnomAD v4 | ||
3 | g.48467724C>T | CA2702685573 | dbSNP | ||
3 | g.48467726_48467727del | CA2665603637 | gnomAD v4 | ||
3 | g.48467725A>C | CA2665603642 | gnomAD v4 | ||
3 | g.48467725A>G | CA2665603645 | gnomAD v4 | ||
3 | g.48467726C>A | CA2665603646 | gnomAD v4 | ||
3 | g.48467726C>T | CA2665603647 | gnomAD v4 | ||
3 | g.48467727A= | CA1363031522 | |||
3 | g.48467727A>C | CA2756154299 | |||
3 | g.48467727A>G | CA73933570 | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.48467727A>T | CA2665603651 | gnomAD v4 | ||
3 | g.48467728G>A | CA2665603654 | gnomAD v4 | ||
3 | g.48467728G= | CA1363031523 | |||
3 | g.48467728G>T | CA2756154300 | |||
3 | g.48467729T>A | CA2756154301 | |||
3 | g.48467729T>C | CA73933575 | ClinVar dbSNP dbSNP dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.48467729T>G | CA73933581 | dbSNP | ||
3 | g.48467729T= | CA1363031524 | |||
3 | g.48467730_48467732dup | CA2665603666 | gnomAD v4 | ||
3 | g.48467732_48467735dup | CA907743354 | dbSNP gnomAD v4 | ||
3 | g.48467732_48467735del | CA2665603663 | gnomAD v4 | ||
3 | g.48467729_48467730insAGA | CA2756154302 | |||
3 | g.48467730G>A | CA2665603669 | gnomAD v4 | ||
3 | g.48467730G>C | CA2665603698 | gnomAD v4 | ||
3 | g.48467730_48467740del | CA2756154303 | |||
3 | g.48467731T>C | CA2665603699 | gnomAD v4 | ||
3 | g.48467731_48467732insAGTA | CA2756154304 | |||
3 | g.48467732T>C | CA2665603700 | gnomAD v4 | ||
3 | g.48467733T>A | CA2665603701 | gnomAD v4 | ||
3 | g.48467733_48467740del | CA2756154305 | |||
3 | g.48467734G>A | CA907743366 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.48467734G>C | CA2665603704 | gnomAD v4 | ||
3 | g.48467734G= | CA1363031525 | |||
3 | g.48467735T>C | CA907743378 | dbSNP gnomAD v4 | ||
3 | g.48467735T= | CA1363031526 | |||
3 | g.48467736C>A | CA2665603711 | gnomAD v4 | ||
3 | g.48467736C= | CA1363031527 | |||
3 | g.48467736C>G | CA543045064 | dbSNP dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
3 | g.48467736C>T | CA1047679320 | dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.48467737C>A | CA2665603717 | gnomAD v4 | ||
3 | g.48467737C>T | CA2665603716 | gnomAD v4 | ||
3 | g.48467737_48467738insAGT | CA2756154306 | |||
3 | g.48467738C>A | CA2665603719 | gnomAD v4 | ||
3 | g.48467738C= | CA1363031528 | |||
3 | g.48467738C>T | CA73933584 | dbSNP gnomAD v4 | ||
3 | g.48467739_48467740del | CA2756154307 | |||
3 | g.48467739T>A | CA2665603722 | gnomAD v4 | ||
3 | g.48467740C>A | CA2665603723 | gnomAD v4 | ||
3 | g.48467740_48467752del | CA2756154308 | |||
3 | g.48467741A= | CA1363031529 | |||
3 | g.48467741A>G | CA73933587 | dbSNP dbSNP gnomAD v3 gnomAD v4 | ||
3 | g.48467742C>A | CA2665603726 | gnomAD v4 | ||
3 | g.48467742C>G | CA2665603727 | gnomAD v4 | ||
3 | g.48467742_48467743dup | CA2665603725 | gnomAD v4 | ||
3 | g.48467742_48467743insACAG | CA2756154309 | |||
3 | g.48467743T>C | CA2665603733 | gnomAD v4 | ||
3 | g.48467743T>G | CA2665603734 | gnomAD v4 | ||
3 | g.48467745dup | CA2665603730 | gnomAD v4 | ||
3 | g.48467745del | CA2665603732 | gnomAD v4 |