| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| Y | g.7070832A>C | CA414969953 | TBL1Y | c.703A>C (p.Asn235His) c.745A>C (p.Asn249His) | |
| Y | g.7070832A>G | CA414969954 | TBL1Y | c.703A>G (p.Asn235Asp) c.745A>G (p.Asn249Asp) | |
| Y | g.7070832A>T | CA414969955 | TBL1Y | c.703A>T (p.Asn235Tyr) c.745A>T (p.Asn249Tyr) | |
| Y | g.7070833A>C | CA414969956 | TBL1Y | c.704A>C (p.Asn235Thr) c.746A>C (p.Asn249Thr) | |
| Y | g.7070833A>G | CA414969957 | TBL1Y | c.704A>G (p.Asn235Ser) c.746A>G (p.Asn249Ser) | |
| Y | g.7070833A>T | CA414969958 | TBL1Y | c.704A>T (p.Asn235Ile) c.746A>T (p.Asn249Ile) | |
| Y | g.7070834_7070835dup | CA2739191618 | TBL1Y | c.705_706dup (p.Lys236IlefsTer?) c.747_748dup (p.Lys250IlefsTer?) | dbSNP |
| Y | g.7070834T>A | CA414969959 | TBL1Y | c.705T>A (p.Asn235Lys) c.747T>A (p.Asn249Lys) | |
| Y | g.7070834T>C | CA519497716 | TBL1Y | c.705T>C (p.Asn235=) c.747T>C (p.Asn249=) | |
| Y | g.7070834T>G | CA414969960 | TBL1Y | c.705T>G (p.Asn235Lys) c.747T>G (p.Asn249Lys) | |
| Y | g.7070835A>C | CA414969962 | TBL1Y | c.706A>C (p.Lys236Gln) c.748A>C (p.Lys250Gln) | |
| Y | g.7070835A>G | CA414969963 | TBL1Y | c.706A>G (p.Lys236Glu) c.748A>G (p.Lys250Glu) | |
| Y | g.7070835A>T | CA414969961 | TBL1Y | c.706A>T (p.Lys236Ter) c.748A>T (p.Lys250Ter) | |
| Y | g.7070836A>C | CA414969964 | TBL1Y | c.707A>C (p.Lys236Thr) c.749A>C (p.Lys250Thr) | |
| Y | g.7070836A>G | CA414969965 | TBL1Y | c.707A>G (p.Lys236Arg) c.749A>G (p.Lys250Arg) | |
| Y | g.7070836A>T | CA414969966 | TBL1Y | c.707A>T (p.Lys236Ile) c.749A>T (p.Lys250Ile) | |
| Y | g.7070837A>C | CA414969967 | TBL1Y | c.708A>C (p.Lys236Asn) c.750A>C (p.Lys250Asn) | |
| Y | g.7070837A>G | CA519497723 | TBL1Y | c.708A>G (p.Lys236=) c.750A>G (p.Lys250=) | |
| Y | g.7070837A>T | CA414969968 | TBL1Y | c.708A>T (p.Lys236Asn) c.750A>T (p.Lys250Asn) | |
| Y | g.7070838G>A | CA414969971 | TBL1Y | c.709G>A (p.Asp237Asn) c.751G>A (p.Asp251Asn) | |
| Y | g.7070838G>C | CA414969969 | TBL1Y | c.709G>C (p.Asp237His) c.751G>C (p.Asp251His) | |
| Y | g.7070838G>T | CA414969970 | TBL1Y | c.709G>T (p.Asp237Tyr) c.751G>T (p.Asp251Tyr) | |
| Y | g.7070839A>C | CA414969972 | TBL1Y | c.710A>C (p.Asp237Ala) c.752A>C (p.Asp251Ala) | |
| Y | g.7070839A>G | CA414969973 | TBL1Y | c.710A>G (p.Asp237Gly) c.752A>G (p.Asp251Gly) | |
| Y | g.7070839A>T | CA414969974 | TBL1Y | c.710A>T (p.Asp237Val) c.752A>T (p.Asp251Val) | |
| Y | g.7070840T>A | CA414969975 | TBL1Y | c.711T>A (p.Asp237Glu) c.753T>A (p.Asp251Glu) | |
| Y | g.7070840T>C | CA519497731 | TBL1Y | c.711T>C (p.Asp237=) c.753T>C (p.Asp251=) | dbSNP gnomAD v2 |
| Y | g.7070840T>G | CA414969976 | TBL1Y | c.711T>G (p.Asp237Glu) c.753T>G (p.Asp251Glu) | |
| Y | g.7070840T= | CA2469914987 | TBL1Y | c.711T= (p.Asp237=) c.753T= (p.Asp251=) | |
| Y | g.7070841G>A | CA414969977 | TBL1Y | c.712G>A (p.Val238Ile) c.754G>A (p.Val252Ile) | |
| Y | g.7070841G>C | CA414969979 | TBL1Y | c.712G>C (p.Val238Leu) c.754G>C (p.Val252Leu) | |
| Y | g.7070841G>T | CA414969978 | TBL1Y | c.712G>T (p.Val238Phe) c.754G>T (p.Val252Phe) | |
| Y | g.7070842T>A | CA414969980 | TBL1Y | c.713T>A (p.Val238Asp) c.755T>A (p.Val252Asp) | |
| Y | g.7070842T>C | CA414969981 | TBL1Y | c.713T>C (p.Val238Ala) c.755T>C (p.Val252Ala) | |
| Y | g.7070842T>G | CA414969982 | TBL1Y | c.713T>G (p.Val238Gly) c.755T>G (p.Val252Gly) | |
| Y | g.7070843C>A | CA519497742 | TBL1Y | c.714C>A (p.Val238=) c.756C>A (p.Val252=) | |
| Y | g.7070843C= | CA2469914988 | TBL1Y | c.714C= (p.Val238=) c.756C= (p.Val252=) | |
| Y | g.7070843C>G | CA519497744 | TBL1Y | c.714C>G (p.Val238=) c.756C>G (p.Val252=) | |
| Y | g.7070843C>T | CA519497746 | TBL1Y | c.714C>T (p.Val238=) c.756C>T (p.Val252=) | dbSNP gnomAD v2 |
| Y | g.7070844A>C | CA414969983 | TBL1Y | c.715A>C (p.Thr239Pro) c.757A>C (p.Thr253Pro) | |
| Y | g.7070844A>G | CA414969984 | TBL1Y | c.715A>G (p.Thr239Ala) c.757A>G (p.Thr253Ala) | |
| Y | g.7070844A>T | CA414969985 | TBL1Y | c.715A>T (p.Thr239Ser) c.757A>T (p.Thr253Ser) | |
| Y | g.7070845C>A | CA414969986 | TBL1Y | c.716C>A (p.Thr239Asn) c.758C>A (p.Thr253Asn) | |
| Y | g.7070845C>G | CA414969987 | TBL1Y | c.716C>G (p.Thr239Ser) c.758C>G (p.Thr253Ser) | |
| Y | g.7070845C>T | CA414969988 | TBL1Y | c.716C>T (p.Thr239Ile) c.758C>T (p.Thr253Ile) | |
| Y | g.7070846C>A | CA519497751 | TBL1Y | c.717C>A (p.Thr239=) c.759C>A (p.Thr253=) | |
| Y | g.7070846C>G | CA519497753 | TBL1Y | c.717C>G (p.Thr239=) c.759C>G (p.Thr253=) | |
| Y | g.7070846C>T | CA519497755 | TBL1Y | c.717C>T (p.Thr239=) c.759C>T (p.Thr253=) | |
| Y | g.7070847T>A | CA414969989 | TBL1Y | c.718T>A (p.Ser240Thr) c.760T>A (p.Ser254Thr) | |
| Y | g.7070847T>C | CA414969990 | TBL1Y | c.718T>C (p.Ser240Pro) c.760T>C (p.Ser254Pro) | |
| Y | g.7070847T>G | CA414969991 | TBL1Y | c.718T>G (p.Ser240Ala) c.760T>G (p.Ser254Ala) | |
| Y | g.7070848C>A | CA414969993 | TBL1Y | c.719C>A (p.Ser240Ter) c.761C>A (p.Ser254Ter) | |
| Y | g.7070848C>G | CA414969994 | TBL1Y | c.719C>G (p.Ser240Ter) c.761C>G (p.Ser254Ter) | |
| Y | g.7070848C>T | CA414969992 | TBL1Y | c.719C>T (p.Ser240Leu) c.761C>T (p.Ser254Leu) | |
| Y | g.7070849A>C | CA519497760 | TBL1Y | c.720A>C (p.Ser240=) c.762A>C (p.Ser254=) | |
| Y | g.7070849A>G | CA519497762 | TBL1Y | c.720A>G (p.Ser240=) c.762A>G (p.Ser254=) | |
| Y | g.7070849A>T | CA519497763 | TBL1Y | c.720A>T (p.Ser240=) c.762A>T (p.Ser254=) | |
| Y | g.7070850C>A | CA414969996 | TBL1Y | c.721C>A (p.Leu241Met) c.763C>A (p.Leu255Met) | |
| Y | g.7070850C>G | CA414969995 | TBL1Y | c.721C>G (p.Leu241Val) c.763C>G (p.Leu255Val) | |
| Y | g.7070850C>T | CA519497766 | TBL1Y | c.721C>T (p.Leu241=) c.763C>T (p.Leu255=) | |
| Y | g.7070851T>A | CA414969999 | TBL1Y | c.722T>A (p.Leu241Gln) c.764T>A (p.Leu255Gln) | |
| Y | g.7070851T>C | CA414969997 | TBL1Y | c.722T>C (p.Leu241Pro) c.764T>C (p.Leu255Pro) | |
| Y | g.7070851T>G | CA414969998 | TBL1Y | c.722T>G (p.Leu241Arg) c.764T>G (p.Leu255Arg) | |
| Y | g.7070852G>A | CA519497776 | TBL1Y | c.723G>A (p.Leu241=) c.765G>A (p.Leu255=) | |
| Y | g.7070852G>C | CA519497782 | TBL1Y | c.723G>C (p.Leu241=) c.765G>C (p.Leu255=) | |
| Y | g.7070852G>T | CA519497780 | TBL1Y | c.723G>T (p.Leu241=) c.765G>T (p.Leu255=) | |
| Y | g.7070853G>A | CA414970000 | TBL1Y | c.724G>A (p.Asp242Asn) c.766G>A (p.Asp256Asn) | |
| Y | g.7070853G>C | CA414970001 | TBL1Y | c.724G>C (p.Asp242His) c.766G>C (p.Asp256His) | |
| Y | g.7070853G>T | CA414970002 | TBL1Y | c.724G>T (p.Asp242Tyr) c.766G>T (p.Asp256Tyr) | |
| Y | g.7070854A>C | CA414970003 | TBL1Y | c.725A>C (p.Asp242Ala) c.767A>C (p.Asp256Ala) | |
| Y | g.7070854A>G | CA414970004 | TBL1Y | c.725A>G (p.Asp242Gly) c.767A>G (p.Asp256Gly) | |
| Y | g.7070854A>T | CA414970005 | TBL1Y | c.725A>T (p.Asp242Val) c.767A>T (p.Asp256Val) | |
| Y | g.7070855C>A | CA414970006 | TBL1Y | c.726C>A (p.Asp242Glu) c.768C>A (p.Asp256Glu) | |
| Y | g.7070855C>G | CA414970007 | TBL1Y | c.726C>G (p.Asp242Glu) c.768C>G (p.Asp256Glu) | |
| Y | g.7070855C>T | CA519497790 | TBL1Y | c.726C>T (p.Asp242=) c.768C>T (p.Asp256=) | |
| Y | g.7070856T>A | CA414970008 | TBL1Y | c.727T>A (p.Trp243Arg) c.769T>A (p.Trp257Arg) | |
| Y | g.7070856T>C | CA414970009 | TBL1Y | c.727T>C (p.Trp243Arg) c.769T>C (p.Trp257Arg) | |
| Y | g.7070856T>G | CA414970010 | TBL1Y | c.727T>G (p.Trp243Gly) c.769T>G (p.Trp257Gly) | |
| Y | g.7070857G>A | CA414970013 | TBL1Y | c.728G>A (p.Trp243Ter) c.770G>A (p.Trp257Ter) | |
| Y | g.7070857G>C | CA414970011 | TBL1Y | c.728G>C (p.Trp243Ser) c.770G>C (p.Trp257Ser) | |
| Y | g.7070857G>T | CA414970012 | TBL1Y | c.728G>T (p.Trp243Leu) c.770G>T (p.Trp257Leu) | |
| Y | g.7070858G>A | CA414970014 | TBL1Y | c.729G>A (p.Trp243Ter) c.771G>A (p.Trp257Ter) | |
| Y | g.7070858G>C | CA414970015 | TBL1Y | c.729G>C (p.Trp243Cys) c.771G>C (p.Trp257Cys) | |
| Y | g.7070858G>T | CA414970016 | TBL1Y | c.729G>T (p.Trp243Cys) c.771G>T (p.Trp257Cys) | |
| Y | g.7070859A>C | CA414970017 | TBL1Y | c.730A>C (p.Asn244His) c.772A>C (p.Asn258His) | |
| Y | g.7070859A>G | CA414970018 | TBL1Y | c.730A>G (p.Asn244Asp) c.772A>G (p.Asn258Asp) | |
| Y | g.7070859A>T | CA414970019 | TBL1Y | c.730A>T (p.Asn244Tyr) c.772A>T (p.Asn258Tyr) | |
| Y | g.7070860A>C | CA414970020 | TBL1Y | c.731A>C (p.Asn244Thr) c.773A>C (p.Asn258Thr) | |
| Y | g.7070860A>G | CA414970021 | TBL1Y | c.731A>G (p.Asn244Ser) c.773A>G (p.Asn258Ser) | |
| Y | g.7070860A>T | CA414970022 | TBL1Y | c.731A>T (p.Asn244Ile) c.773A>T (p.Asn258Ile) | |
| Y | g.7070861C>A | CA414970023 | TBL1Y | c.732C>A (p.Asn244Lys) c.774C>A (p.Asn258Lys) | |
| Y | g.7070861C= | CA2469914989 | TBL1Y | c.732C= (p.Asn244=) c.774C= (p.Asn258=) | |
| Y | g.7070861C>G | CA414970024 | TBL1Y | c.732C>G (p.Asn244Lys) c.774C>G (p.Asn258Lys) | |
| Y | g.7070861C>T | CA519497815 | TBL1Y | c.732C>T (p.Asn244=) c.774C>T (p.Asn258=) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.7070862G>A | CA414970025 | TBL1Y | c.732+1G>A (n.732+1G>A) c.774+1G>A (n.774+1G>A) | dbSNP gnomAD v2 COSMIC |
| Y | g.7070862G>C | CA414970027 | TBL1Y | c.732+1G>C (n.732+1G>C) c.774+1G>C (n.774+1G>C) | |
| Y | g.7070862G= | CA2469914990 | TBL1Y | c.732+1G= (n.732+1G=) c.774+1G= (n.774+1G=) | |
| Y | g.7070862G>T | CA414970026 | TBL1Y | c.732+1G>T (n.732+1G>T) c.774+1G>T (n.774+1G>T) | |
| Y | g.7070863T>A | CA414970028 | TBL1Y | c.732+2T>A (n.732+2T>A) c.774+2T>A (n.774+2T>A) | |
| Y | g.7070863T>C | CA414970029 | TBL1Y | c.732+2T>C (n.732+2T>C) c.774+2T>C (n.774+2T>C) | |
| Y | g.7070863T>G | CA10572167 | TBL1Y | c.732+2T>G (n.732+2T>G) c.774+2T>G (n.774+2T>G) | dbSNP ExAC gnomAD v2 |
| Y | g.7070863T= | CA2469914991 | TBL1Y | c.732+2T= (n.732+2T=) c.774+2T= (n.774+2T=) | |
| Y | g.7070868A>C | CA2766274188 | TBL1Y | c.732+7A>C (n.732+7A>C) c.774+7A>C (n.774+7A>C) | |
| Y | g.7070870C>A | CA645286382 | TBL1Y | c.732+9C>A (n.732+9C>A) c.774+9C>A (n.774+9C>A) | dbSNP gnomAD v2 |
| Y | g.7070870C= | CA2469914992 | TBL1Y | c.732+9C= (n.732+9C=) c.774+9C= (n.774+9C=) | |
| Y | g.7070877C>A | CA10572168 | TBL1Y | c.732+16C>A (n.732+16C>A) c.774+16C>A (n.774+16C>A) | dbSNP ExAC gnomAD v2 |
| Y | g.7070877C= | CA2469914993 | TBL1Y | c.732+16C= (n.732+16C=) c.774+16C= (n.774+16C=) | |
| Y | g.7070878C>A | CA2766274190 | TBL1Y | c.732+17C>A (n.732+17C>A) c.774+17C>A (n.774+17C>A) | |
| Y | g.7070878C>T | CA2766274189 | TBL1Y | c.732+17C>T (n.732+17C>T) c.774+17C>T (n.774+17C>T) | |
| Y | g.7070879C>A | CA2579746978 | TBL1Y | c.732+18C>A (n.732+18C>A) c.774+18C>A (n.774+18C>A) | |
| Y | g.7070879C>T | CA2766274191 | TBL1Y | c.732+18C>T (n.732+18C>T) c.774+18C>T (n.774+18C>T) | |
| Y | g.7070881del | CA2766274192 | TBL1Y | c.732+20del (n.732+20del) c.774+20del (n.774+20del) | |
| Y | g.7070882G>C | CA10572169 | TBL1Y | c.732+21G>C (n.732+21G>C) c.774+21G>C (n.774+21G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.7070882G= | CA2469914994 | TBL1Y | c.732+21G= (n.732+21G=) c.774+21G= (n.774+21G=) | |
| Y | g.7070885C>T | CA2766274193 | TBL1Y | c.732+24C>T (n.732+24C>T) c.774+24C>T (n.774+24C>T) | |
| Y | g.7070889T>G | CA645286383 | TBL1Y | c.732+28T>G (n.732+28T>G) c.774+28T>G (n.774+28T>G) | dbSNP gnomAD v2 |
| Y | g.7070889T= | CA2469914995 | TBL1Y | c.732+28T= (n.732+28T=) c.774+28T= (n.774+28T=) | |
| Y | g.7070890T>C | CA2766274194 | TBL1Y | c.732+29T>C (n.732+29T>C) c.774+29T>C (n.774+29T>C) | |
| Y | g.7070890T>G | CA2766274195 | TBL1Y | c.732+29T>G (n.732+29T>G) c.774+29T>G (n.774+29T>G) | |
| Y | g.7070896del | CA2739191682 | TBL1Y | c.732+35del (n.732+35del) c.774+35del (n.774+35del) | dbSNP |
| Y | g.7070898G>T | CA1138814390 | TBL1Y | c.732+37G>T (n.732+37G>T) c.774+37G>T (n.774+37G>T) | gnomAD v3 gnomAD v4 |
| Y | g.7070899T>C | CA2579746979 | TBL1Y | c.732+38T>C (n.732+38T>C) c.774+38T>C (n.774+38T>C) | |
| Y | g.7070903A= | CA2469914996 | TBL1Y | c.732+42A= (n.732+42A=) c.774+42A= (n.774+42A=) | |
| Y | g.7070903A>C | CA645286384 | TBL1Y | c.732+42A>C (n.732+42A>C) c.774+42A>C (n.774+42A>C) | dbSNP gnomAD v2 |
| Y | g.7070903A>G | CA2766274196 | TBL1Y | c.732+42A>G (n.732+42A>G) c.774+42A>G (n.774+42A>G) | |
| Y | g.7070907G>T | CA2579746980 | TBL1Y | c.732+46G>T (n.732+46G>T) c.774+46G>T (n.774+46G>T) | |
| Y | g.7070908C>T | CA2523722132 | TBL1Y | c.732+47C>T (n.732+47C>T) c.774+47C>T (n.774+47C>T) | |
| Y | g.7070909del | CA2564067278 | TBL1Y | c.732+48del (n.732+48del) c.774+48del (n.774+48del) | |
| Y | g.7070909C= | CA2469914997 | TBL1Y | c.732+48C= (n.732+48C=) c.774+48C= (n.774+48C=) | |
| Y | g.7070909C>T | CA10572170 | TBL1Y | c.732+48C>T (n.732+48C>T) c.774+48C>T (n.774+48C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.7070912C>T | CA2579746981 | TBL1Y | c.732+51C>T (n.732+51C>T) c.774+51C>T (n.774+51C>T) | |
| Y | g.7070916G>A | CA2589275523 | TBL1Y | c.732+55G>A (n.732+55G>A) c.774+55G>A (n.774+55G>A) | gnomAD v3 gnomAD v4 |
| Y | g.7070916G>T | CA2579746982 | TBL1Y | c.732+55G>T (n.732+55G>T) c.774+55G>T (n.774+55G>T) | |
| Y | g.7070917C>A | CA2579746983 | TBL1Y | c.732+56C>A (n.732+56C>A) c.774+56C>A (n.774+56C>A) | |
| Y | g.7070918A>G | CA2766274197 | TBL1Y | c.732+57A>G (n.732+57A>G) c.774+57A>G (n.774+57A>G) | |
| Y | g.7070920G>A | CA2766274198 | TBL1Y | c.732+59G>A (n.732+59G>A) c.774+59G>A (n.774+59G>A) | |
| Y | g.7070922G>A | CA2579746984 | TBL1Y | c.732+61G>A (n.732+61G>A) c.774+61G>A (n.774+61G>A) | |
| Y | g.7070923C>A | CA2579746985 | TBL1Y | c.732+62C>A (n.732+62C>A) c.774+62C>A (n.774+62C>A) | |
| Y | g.7070925G>A | CA2579746986 | TBL1Y | c.732+64G>A (n.732+64G>A) c.774+64G>A (n.774+64G>A) | |
| Y | g.7070926_7070927delinsCA | CA2469914998 | TBL1Y | c.732+65_732+66delinsCA (n.732+65_732+66delinsCA) c.774+65_774+66delinsCA (n.774+65_774+66delinsCA) | |
| Y | g.7070927del | CA1138814404 | TBL1Y | c.732+66del (n.732+66del) c.774+66del (n.774+66del) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.7070932T>G | CA2766274199 | TBL1Y | c.732+71T>G (n.732+71T>G) c.774+71T>G (n.774+71T>G) |