| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| Y | g.7070640C>A | CA2579746972 | TBL1Y | c.591-80C>A (n.591-80C>A) c.633-80C>A (n.633-80C>A) | |
| Y | g.7070644C>A | CA2579746973 | TBL1Y | c.591-76C>A (n.591-76C>A) c.633-76C>A (n.633-76C>A) | |
| Y | g.7070645C>A | CA2579746974 | TBL1Y | c.591-75C>A (n.591-75C>A) c.633-75C>A (n.633-75C>A) | |
| Y | g.7070646A>T | CA2568002516 | TBL1Y | c.591-74A>T (n.591-74A>T) c.633-74A>T (n.633-74A>T) | |
| 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) |