| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| Y | g.7070660A= | CA2469914957 | TBL1Y | c.591-60A= (n.591-60A=) c.633-60A= (n.633-60A=) | |
| Y | g.7070660A>G | CA1138889041 | TBL1Y | c.591-60A>G (n.591-60A>G) c.633-60A>G (n.633-60A>G) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.7070662T>G | CA2579746975 | TBL1Y | c.591-58T>G (n.591-58T>G) c.633-58T>G (n.633-58T>G) | |
| Y | g.7070663G>T | CA2824507522 | TBL1Y | c.591-57G>T (n.591-57G>T) c.633-57G>T (n.633-57G>T) | |
| Y | g.7070671C>T | CA2766274181 | TBL1Y | c.591-49C>T (n.591-49C>T) c.633-49C>T (n.633-49C>T) | |
| Y | g.7070674C>G | CA1138889048 | TBL1Y | c.591-46C>G (n.591-46C>G) c.633-46C>G (n.633-46C>G) | gnomAD v3 gnomAD v4 |
| Y | g.7070674C>T | CA2766274182 | TBL1Y | c.591-46C>T (n.591-46C>T) c.633-46C>T (n.633-46C>T) | |
| Y | g.7070681G>C | CA2766274183 | TBL1Y | c.591-39G>C (n.591-39G>C) c.633-39G>C (n.633-39G>C) | |
| Y | g.7070684C>T | CA2579746976 | TBL1Y | c.591-36C>T (n.591-36C>T) c.633-36C>T (n.633-36C>T) | |
| Y | g.7070692C>T | CA2766274184 | TBL1Y | c.591-28C>T (n.591-28C>T) c.633-28C>T (n.633-28C>T) | |
| Y | g.7070693G>A | CA10572152 | TBL1Y | c.591-27G>A (n.591-27G>A) c.633-27G>A (n.633-27G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.7070693G= | CA2469914958 | TBL1Y | c.591-27G= (n.591-27G=) c.633-27G= (n.633-27G=) | |
| Y | g.7070693G>T | CA2766274185 | TBL1Y | c.591-27G>T (n.591-27G>T) c.633-27G>T (n.633-27G>T) | |
| Y | g.7070696G>A | CA2766274186 | TBL1Y | c.591-24G>A (n.591-24G>A) c.633-24G>A (n.633-24G>A) | |
| Y | g.7070697G>C | CA1138889052 | TBL1Y | c.591-23G>C (n.591-23G>C) c.633-23G>C (n.633-23G>C) | gnomAD v3 gnomAD v4 |
| Y | g.7070704T>G | CA10572153 | TBL1Y | c.591-16T>G (n.591-16T>G) c.633-16T>G (n.633-16T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.7070704T= | CA2469914959 | TBL1Y | c.591-16T= (n.591-16T=) c.633-16T= (n.633-16T=) | |
| Y | g.7070705G>T | CA2516895157 | TBL1Y | c.591-15G>T (n.591-15G>T) c.633-15G>T (n.633-15G>T) | |
| Y | g.7070706T>G | CA2766274187 | TBL1Y | c.591-14T>G (n.591-14T>G) c.633-14T>G (n.633-14T>G) | |
| Y | g.7070707T>C | CA10572154 | TBL1Y | c.591-13T>C (n.591-13T>C) c.633-13T>C (n.633-13T>C) | dbSNP ExAC gnomAD v2 |
| Y | g.7070707T= | CA2469914960 | TBL1Y | c.591-13T= (n.591-13T=) c.633-13T= (n.633-13T=) | |
| Y | g.7070717del | CA2824507523 | TBL1Y | c.591-3del (n.591-3del) c.633-3del (n.633-3del) | |
| Y | g.7070718A>C | CA414969482 | TBL1Y | c.591-2A>C (n.591-2A>C) c.633-2A>C (n.633-2A>C) | |
| Y | g.7070718A>G | CA414969484 | TBL1Y | c.591-2A>G (n.591-2A>G) c.633-2A>G (n.633-2A>G) | |
| Y | g.7070718A>T | CA414969486 | TBL1Y | c.591-2A>T (n.591-2A>T) c.633-2A>T (n.633-2A>T) | |
| Y | g.7070719G>A | CA414969488 | TBL1Y | c.591-1G>A (n.591-1G>A) c.633-1G>A (n.633-1G>A) | |
| Y | g.7070719G>C | CA414969489 | TBL1Y | c.591-1G>C (n.591-1G>C) c.633-1G>C (n.633-1G>C) | |
| Y | g.7070719G>T | CA414969491 | TBL1Y | c.591-1G>T (n.591-1G>T) c.633-1G>T (n.633-1G>T) | |
| Y | g.7070720A= | CA2469914961 | TBL1Y | c.591A= (p.Gly197=) c.633A= (p.Gly211=) | |
| Y | g.7070720A>C | CA519497297 | TBL1Y | c.591A>C (p.Gly197=) c.633A>C (p.Gly211=) | |
| Y | g.7070720A>G | CA519497299 | TBL1Y | c.591A>G (p.Gly197=) c.633A>G (p.Gly211=) | dbSNP gnomAD v2 |
| Y | g.7070720A>T | CA519497300 | TBL1Y | c.591A>T (p.Gly197=) c.633A>T (p.Gly211=) | |
| Y | g.7070721T>A | CA414969493 | TBL1Y | c.592T>A (p.Ser198Thr) c.634T>A (p.Ser212Thr) | |
| Y | g.7070721T>C | CA414969494 | TBL1Y | c.592T>C (p.Ser198Pro) c.634T>C (p.Ser212Pro) | |
| Y | g.7070721T>G | CA414969495 | TBL1Y | c.592T>G (p.Ser198Ala) c.634T>G (p.Ser212Ala) | |
| Y | g.7070722C>A | CA414969496 | TBL1Y | c.593C>A (p.Ser198Tyr) c.635C>A (p.Ser212Tyr) | |
| Y | g.7070722C>G | CA414969497 | TBL1Y | c.593C>G (p.Ser198Cys) c.635C>G (p.Ser212Cys) | |
| Y | g.7070722C>T | CA414969498 | TBL1Y | c.593C>T (p.Ser198Phe) c.635C>T (p.Ser212Phe) | |
| Y | g.7070723T>A | CA519497310 | TBL1Y | c.594T>A (p.Ser198=) c.636T>A (p.Ser212=) | |
| Y | g.7070723T>C | CA519497311 | TBL1Y | c.594T>C (p.Ser198=) c.636T>C (p.Ser212=) | |
| Y | g.7070723T>G | CA519497313 | TBL1Y | c.594T>G (p.Ser198=) c.636T>G (p.Ser212=) | |
| Y | g.7070724G>A | CA414969502 | TBL1Y | c.595G>A (p.Gly199Arg) c.637G>A (p.Gly213Arg) | |
| Y | g.7070724G>C | CA414969503 | TBL1Y | c.595G>C (p.Gly199Arg) c.637G>C (p.Gly213Arg) | |
| Y | g.7070724G>T | CA414969500 | TBL1Y | c.595G>T (p.Gly199Ter) c.637G>T (p.Gly213Ter) | |
| Y | g.7070725G>A | CA10572155 | TBL1Y | c.596G>A (p.Gly199Glu) c.638G>A (p.Gly213Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.7070725G>C | CA414969505 | TBL1Y | c.596G>C (p.Gly199Ala) c.638G>C (p.Gly213Ala) | |
| Y | g.7070725G= | CA2469914962 | TBL1Y | c.596G= (p.Gly199=) c.638G= (p.Gly213=) | |
| Y | g.7070725G>T | CA337560219 | TBL1Y | c.596G>T (p.Gly199Val) c.638G>T (p.Gly213Val) | dbSNP |
| Y | g.7070726A= | CA2469914963 | TBL1Y | c.597A= (p.Gly199=) c.639A= (p.Gly213=) | |
| Y | g.7070726A>C | CA519497321 | TBL1Y | c.597A>C (p.Gly199=) c.639A>C (p.Gly213=) | |
| Y | g.7070726A>G | CA10572156 | TBL1Y | c.597A>G (p.Gly199=) c.639A>G (p.Gly213=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.7070726A>T | CA519497322 | TBL1Y | c.597A>T (p.Gly199=) c.639A>T (p.Gly213=) | |
| Y | g.7070727G>A | CA414969507 | TBL1Y | c.598G>A (p.Asp200Asn) c.640G>A (p.Asp214Asn) | |
| Y | g.7070727G>C | CA414969508 | TBL1Y | c.598G>C (p.Asp200His) c.640G>C (p.Asp214His) | |
| Y | g.7070727G>T | CA414969509 | TBL1Y | c.598G>T (p.Asp200Tyr) c.640G>T (p.Asp214Tyr) | |
| Y | g.7070728A>C | CA414969512 | TBL1Y | c.599A>C (p.Asp200Ala) c.641A>C (p.Asp214Ala) | |
| Y | g.7070728A>G | CA414969513 | TBL1Y | c.599A>G (p.Asp200Gly) c.641A>G (p.Asp214Gly) | |
| Y | g.7070728A>T | CA414969515 | TBL1Y | c.599A>T (p.Asp200Val) c.641A>T (p.Asp214Val) | |
| Y | g.7070729C>A | CA414969517 | TBL1Y | c.600C>A (p.Asp200Glu) c.642C>A (p.Asp214Glu) | |
| Y | g.7070729C>G | CA414969518 | TBL1Y | c.600C>G (p.Asp200Glu) c.642C>G (p.Asp214Glu) | |
| Y | g.7070729C>T | CA519497338 | TBL1Y | c.600C>T (p.Asp200=) c.642C>T (p.Asp214=) | |
| Y | g.7070730T>A | CA414969523 | TBL1Y | c.601T>A (p.Ser201Thr) c.643T>A (p.Ser215Thr) | |
| Y | g.7070730T>C | CA414969522 | TBL1Y | c.601T>C (p.Ser201Pro) c.643T>C (p.Ser215Pro) | |
| Y | g.7070730T>G | CA414969520 | TBL1Y | c.601T>G (p.Ser201Ala) c.643T>G (p.Ser215Ala) | |
| Y | g.7070731C>A | CA414969525 | TBL1Y | c.602C>A (p.Ser201Ter) c.644C>A (p.Ser215Ter) | |
| Y | g.7070731C>G | CA414969527 | TBL1Y | c.602C>G (p.Ser201Ter) c.644C>G (p.Ser215Ter) | |
| Y | g.7070731C>T | CA414969528 | TBL1Y | c.602C>T (p.Ser201Leu) c.644C>T (p.Ser215Leu) | |
| Y | g.7070732A>C | CA519497347 | TBL1Y | c.603A>C (p.Ser201=) c.645A>C (p.Ser215=) | |
| Y | g.7070732A>G | CA519497348 | TBL1Y | c.603A>G (p.Ser201=) c.645A>G (p.Ser215=) | |
| Y | g.7070732A>T | CA519497349 | TBL1Y | c.603A>T (p.Ser201=) c.645A>T (p.Ser215=) | |
| Y | g.7070733A= | CA2469914964 | TBL1Y | c.604A= (p.Thr202=) c.646A= (p.Thr216=) | |
| Y | g.7070733A>C | CA414969530 | TBL1Y | c.604A>C (p.Thr202Pro) c.646A>C (p.Thr216Pro) | |
| Y | g.7070733A>G | CA414969531 | TBL1Y | c.604A>G (p.Thr202Ala) c.646A>G (p.Thr216Ala) | dbSNP gnomAD v2 |
| Y | g.7070733A>T | CA414969532 | TBL1Y | c.604A>T (p.Thr202Ser) c.646A>T (p.Thr216Ser) | |
| Y | g.7070734C>A | CA414969534 | TBL1Y | c.605C>A (p.Thr202Asn) c.647C>A (p.Thr216Asn) | |
| Y | g.7070734C>G | CA414969536 | TBL1Y | c.605C>G (p.Thr202Ser) c.647C>G (p.Thr216Ser) | |
| Y | g.7070734C>T | CA414969539 | TBL1Y | c.605C>T (p.Thr202Ile) c.647C>T (p.Thr216Ile) | |
| Y | g.7070735T>A | CA519497351 | TBL1Y | c.606T>A (p.Thr202=) c.648T>A (p.Thr216=) | |
| Y | g.7070735T>C | CA519497352 | TBL1Y | c.606T>C (p.Thr202=) c.648T>C (p.Thr216=) | |
| Y | g.7070735T>G | CA519497353 | TBL1Y | c.606T>G (p.Thr202=) c.648T>G (p.Thr216=) | dbSNP gnomAD v2 |
| Y | g.7070735T= | CA2469914965 | TBL1Y | c.606T= (p.Thr202=) c.648T= (p.Thr216=) | |
| Y | g.7070736G>A | CA414969541 | TBL1Y | c.607G>A (p.Ala203Thr) c.649G>A (p.Ala217Thr) | |
| Y | g.7070736G>C | CA414969544 | TBL1Y | c.607G>C (p.Ala203Pro) c.649G>C (p.Ala217Pro) | |
| Y | g.7070736G>T | CA414969546 | TBL1Y | c.607G>T (p.Ala203Ser) c.649G>T (p.Ala217Ser) | |
| Y | g.7070737C>A | CA414969554 | TBL1Y | c.608C>A (p.Ala203Glu) c.650C>A (p.Ala217Glu) | |
| Y | g.7070737C>G | CA414969553 | TBL1Y | c.608C>G (p.Ala203Gly) c.650C>G (p.Ala217Gly) | |
| Y | g.7070737C>T | CA414969550 | TBL1Y | c.608C>T (p.Ala203Val) c.650C>T (p.Ala217Val) | |
| Y | g.7070738A>C | CA519497361 | TBL1Y | c.609A>C (p.Ala203=) c.651A>C (p.Ala217=) | |
| Y | g.7070738A>G | CA519497363 | TBL1Y | c.609A>G (p.Ala203=) c.651A>G (p.Ala217=) | |
| Y | g.7070738A>T | CA519497364 | TBL1Y | c.609A>T (p.Ala203=) c.651A>T (p.Ala217=) | |
| Y | g.7070739A>C | CA519497367 | TBL1Y | c.610A>C (p.Arg204=) c.652A>C (p.Arg218=) | |
| Y | g.7070739A>G | CA414969556 | TBL1Y | c.610A>G (p.Arg204Gly) c.652A>G (p.Arg218Gly) | |
| Y | g.7070739A>T | CA414969557 | TBL1Y | c.610A>T (p.Arg204Trp) c.652A>T (p.Arg218Trp) | |
| Y | g.7070740G>A | CA414969559 | TBL1Y | c.611G>A (p.Arg204Lys) c.653G>A (p.Arg218Lys) | |
| Y | g.7070740G>C | CA414969562 | TBL1Y | c.611G>C (p.Arg204Thr) c.653G>C (p.Arg218Thr) | |
| Y | g.7070740G>T | CA414969565 | TBL1Y | c.611G>T (p.Arg204Met) c.653G>T (p.Arg218Met) | |
| Y | g.7070741G>A | CA519497373 | TBL1Y | c.612G>A (p.Arg204=) c.654G>A (p.Arg218=) | |
| Y | g.7070741G>C | CA414969568 | TBL1Y | c.612G>C (p.Arg204Ser) c.654G>C (p.Arg218Ser) | |
| Y | g.7070741G>T | CA414969571 | TBL1Y | c.612G>T (p.Arg204Ser) c.654G>T (p.Arg218Ser) | |
| Y | g.7070742A>C | CA414969574 | TBL1Y | c.613A>C (p.Ile205Leu) c.655A>C (p.Ile219Leu) | |
| Y | g.7070742A>G | CA414969575 | TBL1Y | c.613A>G (p.Ile205Val) c.655A>G (p.Ile219Val) | |
| Y | g.7070742A>T | CA414969578 | TBL1Y | c.613A>T (p.Ile205Leu) c.655A>T (p.Ile219Leu) | |
| Y | g.7070743T>A | CA414969580 | TBL1Y | c.614T>A (p.Ile205Lys) c.656T>A (p.Ile219Lys) | |
| Y | g.7070743T>C | CA414969581 | TBL1Y | c.614T>C (p.Ile205Thr) c.656T>C (p.Ile219Thr) | |
| Y | g.7070743T>G | CA414969584 | TBL1Y | c.614T>G (p.Ile205Arg) c.656T>G (p.Ile219Arg) | |
| Y | g.7070744A>C | CA519497382 | TBL1Y | c.615A>C (p.Ile205=) c.657A>C (p.Ile219=) | |
| Y | g.7070744A>G | CA414969588 | TBL1Y | c.615A>G (p.Ile205Met) c.657A>G (p.Ile219Met) | |
| Y | g.7070744A>T | CA519497387 | TBL1Y | c.615A>T (p.Ile205=) c.657A>T (p.Ile219=) | |
| Y | g.7070745T>A | CA414969594 | TBL1Y | c.616T>A (p.Trp206Arg) c.658T>A (p.Trp220Arg) | |
| Y | g.7070745T>C | CA414969597 | TBL1Y | c.616T>C (p.Trp206Arg) c.658T>C (p.Trp220Arg) | |
| Y | g.7070745T>G | CA414969599 | TBL1Y | c.616T>G (p.Trp206Gly) c.658T>G (p.Trp220Gly) | |
| Y | g.7070746G>A | CA414969602 | TBL1Y | c.617G>A (p.Trp206Ter) c.659G>A (p.Trp220Ter) | |
| Y | g.7070746G>C | CA414969603 | TBL1Y | c.617G>C (p.Trp206Ser) c.659G>C (p.Trp220Ser) | |
| Y | g.7070746G>T | CA414969605 | TBL1Y | c.617G>T (p.Trp206Leu) c.659G>T (p.Trp220Leu) | |
| Y | g.7070747G>A | CA414969608 | TBL1Y | c.618G>A (p.Trp206Ter) c.660G>A (p.Trp220Ter) | |
| Y | g.7070747G>C | CA414969611 | TBL1Y | c.618G>C (p.Trp206Cys) c.660G>C (p.Trp220Cys) | |
| Y | g.7070747G>T | CA414969613 | TBL1Y | c.618G>T (p.Trp206Cys) c.660G>T (p.Trp220Cys) | |
| Y | g.7070748A>C | CA414969614 | TBL1Y | c.619A>C (p.Asn207His) c.661A>C (p.Asn221His) | |
| Y | g.7070748A>G | CA414969615 | TBL1Y | c.619A>G (p.Asn207Asp) c.661A>G (p.Asn221Asp) | |
| Y | g.7070748A>T | CA414969616 | TBL1Y | c.619A>T (p.Asn207Tyr) c.661A>T (p.Asn221Tyr) | |
| Y | g.7070749A>C | CA414969618 | TBL1Y | c.620A>C (p.Asn207Thr) c.662A>C (p.Asn221Thr) | |
| Y | g.7070749A>G | CA414969621 | TBL1Y | c.620A>G (p.Asn207Ser) c.662A>G (p.Asn221Ser) | |
| Y | g.7070749A>T | CA414969620 | TBL1Y | c.620A>T (p.Asn207Ile) c.662A>T (p.Asn221Ile) | |
| Y | g.7070750C>A | CA414969623 | TBL1Y | c.621C>A (p.Asn207Lys) c.663C>A (p.Asn221Lys) | |
| Y | g.7070750C>G | CA414969625 | TBL1Y | c.621C>G (p.Asn207Lys) c.663C>G (p.Asn221Lys) | |
| Y | g.7070750C>T | CA519497404 | TBL1Y | c.621C>T (p.Asn207=) c.663C>T (p.Asn221=) | |
| Y | g.7070751C>A | CA414969627 | TBL1Y | c.622C>A (p.Leu208Met) c.664C>A (p.Leu222Met) | |
| Y | g.7070751C>G | CA414969629 | TBL1Y | c.622C>G (p.Leu208Val) c.664C>G (p.Leu222Val) | |
| Y | g.7070751C>T | CA519497409 | TBL1Y | c.622C>T (p.Leu208=) c.664C>T (p.Leu222=) | |
| Y | g.7070752T>A | CA414969631 | TBL1Y | c.623T>A (p.Leu208Gln) c.665T>A (p.Leu222Gln) | |
| Y | g.7070752T>C | CA414969633 | TBL1Y | c.623T>C (p.Leu208Pro) c.665T>C (p.Leu222Pro) | |
| Y | g.7070752T>G | CA414969635 | TBL1Y | c.623T>G (p.Leu208Arg) c.665T>G (p.Leu222Arg) | |
| Y | g.7070753G>A | CA519497414 | TBL1Y | c.624G>A (p.Leu208=) c.666G>A (p.Leu222=) | |
| Y | g.7070753G>C | CA519497416 | TBL1Y | c.624G>C (p.Leu208=) c.666G>C (p.Leu222=) | |
| Y | g.7070753G>T | CA519497415 | TBL1Y | c.624G>T (p.Leu208=) c.666G>T (p.Leu222=) | |
| Y | g.7070754A>C | CA414969638 | TBL1Y | c.625A>C (p.Asn209His) c.667A>C (p.Asn223His) | |
| Y | g.7070754A>G | CA414969639 | TBL1Y | c.625A>G (p.Asn209Asp) c.667A>G (p.Asn223Asp) | |
| Y | g.7070754A>T | CA414969641 | TBL1Y | c.625A>T (p.Asn209Tyr) c.667A>T (p.Asn223Tyr) | |
| Y | g.7070755A>C | CA414969644 | TBL1Y | c.626A>C (p.Asn209Thr) c.668A>C (p.Asn223Thr) | |
| Y | g.7070755A>G | CA414969646 | TBL1Y | c.626A>G (p.Asn209Ser) c.668A>G (p.Asn223Ser) | |
| Y | g.7070755A>T | CA414969648 | TBL1Y | c.626A>T (p.Asn209Ile) c.668A>T (p.Asn223Ile) | |
| Y | g.7070756T>A | CA414969650 | TBL1Y | c.627T>A (p.Asn209Lys) c.669T>A (p.Asn223Lys) | |
| Y | g.7070756T>C | CA519497427 | TBL1Y | c.627T>C (p.Asn209=) c.669T>C (p.Asn223=) | |
| Y | g.7070756T>G | CA414969652 | TBL1Y | c.627T>G (p.Asn209Lys) c.669T>G (p.Asn223Lys) | |
| Y | g.7070757G>A | CA414969654 | TBL1Y | c.628G>A (p.Glu210Lys) c.670G>A (p.Glu224Lys) | |
| Y | g.7070757G>C | CA414969655 | TBL1Y | c.628G>C (p.Glu210Gln) c.670G>C (p.Glu224Gln) | |
| Y | g.7070757G= | CA2469914966 | TBL1Y | c.628G= (p.Glu210=) c.670G= (p.Glu224=) | |
| Y | g.7070757G>T | CA10572157 | TBL1Y | c.628G>T (p.Glu210Ter) c.670G>T (p.Glu224Ter) | dbSNP ExAC gnomAD v2 |
| Y | g.7070758A>C | CA414969657 | TBL1Y | c.629A>C (p.Glu210Ala) c.671A>C (p.Glu224Ala) | |
| Y | g.7070758A>G | CA414969658 | TBL1Y | c.629A>G (p.Glu210Gly) c.671A>G (p.Glu224Gly) | |
| Y | g.7070758A>T | CA414969660 | TBL1Y | c.629A>T (p.Glu210Val) c.671A>T (p.Glu224Val) | |
| Y | g.7070759G>A | CA519497434 | TBL1Y | c.630G>A (p.Glu210=) c.672G>A (p.Glu224=) | |
| Y | g.7070759G>C | CA414969662 | TBL1Y | c.630G>C (p.Glu210Asp) c.672G>C (p.Glu224Asp) | |
| Y | g.7070759G>T | CA414969664 | TBL1Y | c.630G>T (p.Glu210Asp) c.672G>T (p.Glu224Asp) | |
| Y | g.7070760A>C | CA414969665 | TBL1Y | c.631A>C (p.Asn211His) c.673A>C (p.Asn225His) | |
| Y | g.7070760A>G | CA414969666 | TBL1Y | c.631A>G (p.Asn211Asp) c.673A>G (p.Asn225Asp) | |
| Y | g.7070760A>T | CA414969668 | TBL1Y | c.631A>T (p.Asn211Tyr) c.673A>T (p.Asn225Tyr) |