Chr Mutation (hg38) CAid Gene Transcript Linkouts
Yg.7086325_7086329delinsTCTTCCA2469915856TBL1Yc.1188_1192delinsTCTTC (p.Asp396=)
c.1230_1234delinsTCTTC (p.Asp410=)
Yg.7086326_7086329delCA880387088TBL1Yc.1189_1192del (p.Leu397ArgfsTer?)
c.1231_1234del (p.Leu411ArgfsTer?)
dbSNP gnomAD v3 gnomAD v4
Yg.7086329C>ACA414967321TBL1Yc.1192C>A (p.Gln398Lys)
c.1234C>A (p.Gln412Lys)
Yg.7086329C>GCA414967322TBL1Yc.1192C>G (p.Gln398Glu)
c.1234C>G (p.Gln412Glu)
Yg.7086329C>TCA414967325TBL1Yc.1192C>T (p.Gln398Ter)
c.1234C>T (p.Gln412Ter)
Yg.7086329_7086330insTACA2506947999TBL1Yc.1192_1193insTA (p.Gln398LeufsTer?)
c.1234_1235insTA (p.Gln412LeufsTer?)
Yg.7086330delCA2554603210TBL1Yc.1193del (p.Gln398ArgfsTer?)
c.1235del (p.Gln412ArgfsTer?)
Yg.7086330A=CA2469915857TBL1Yc.1193A= (p.Gln398=)
c.1235A= (p.Gln412=)
Yg.7086330A>CCA414967328TBL1Yc.1193A>C (p.Gln398Pro)
c.1235A>C (p.Gln412Pro)
Yg.7086330A>GCA414967332TBL1Yc.1193A>G (p.Gln398Arg)
c.1235A>G (p.Gln412Arg)
Yg.7086330A>TCA414967336TBL1Yc.1193A>T (p.Gln398Leu)
c.1235A>T (p.Gln412Leu)
Yg.7086330_7086331insCCA880387092TBL1Yc.1193_1194insC (p.Gln398HisfsTer?)
c.1235_1236insC (p.Gln412HisfsTer?)
dbSNP
Yg.7086330_7086331insATGATACCA2530015712TBL1Yc.1193_1194insATGATAC (p.Ala399Ter)
c.1235_1236insATGATAC (p.Ala413Ter)
Yg.7086331G>ACA519497927TBL1Yc.1194G>A (p.Gln398=)
c.1236G>A (p.Gln412=)
Yg.7086331G>CCA414967339TBL1Yc.1194G>C (p.Gln398His)
c.1236G>C (p.Gln412His)
gnomAD v3 gnomAD v4
Yg.7086331G>TCA414967342TBL1Yc.1194G>T (p.Gln398His)
c.1236G>T (p.Gln412His)
Yg.7086332G>ACA414967346TBL1Yc.1195G>A (p.Ala399Thr)
c.1237G>A (p.Ala413Thr)
Yg.7086332G>CCA414967349TBL1Yc.1195G>C (p.Ala399Pro)
c.1237G>C (p.Ala413Pro)
Yg.7086332G>TCA414967350TBL1Yc.1195G>T (p.Ala399Ser)
c.1237G>T (p.Ala413Ser)
Yg.7086333C>ACA414967354TBL1Yc.1196C>A (p.Ala399Asp)
c.1238C>A (p.Ala413Asp)
Yg.7086333C=CA2469915858TBL1Yc.1196C= (p.Ala399=)
c.1238C= (p.Ala413=)
Yg.7086333C>GCA414967359TBL1Yc.1196C>G (p.Ala399Gly)
c.1238C>G (p.Ala413Gly)
Yg.7086333C>TCA414967357TBL1Yc.1196C>T (p.Ala399Val)
c.1238C>T (p.Ala413Val)
Yg.7086333_7086334insGACA880387095TBL1Yc.1196_1197insGA (p.His400IlefsTer?)
c.1238_1239insGA (p.His414IlefsTer?)
dbSNP
Yg.7086334T>ACA519497937TBL1Yc.1197T>A (p.Ala399=)
c.1239T>A (p.Ala413=)
Yg.7086334T>CCA519497939TBL1Yc.1197T>C (p.Ala399=)
c.1239T>C (p.Ala413=)
dbSNP gnomAD v3 gnomAD v4
Yg.7086334T>GCA519497941TBL1Yc.1197T>G (p.Ala399=)
c.1239T>G (p.Ala413=)
Yg.7086334T=CA2469915859TBL1Yc.1197T= (p.Ala399=)
c.1239T= (p.Ala413=)
Yg.7086335delCA2531125520TBL1Yc.1198del (p.His400ThrfsTer?)
c.1240del (p.His414ThrfsTer?)
Yg.7086335C>ACA414967364TBL1Yc.1198C>A (p.His400Asn)
c.1240C>A (p.His414Asn)
Yg.7086335C>GCA414967372TBL1Yc.1198C>G (p.His400Asp)
c.1240C>G (p.His414Asp)
Yg.7086335C>TCA414967367TBL1Yc.1198C>T (p.His400Tyr)
c.1240C>T (p.His414Tyr)
Yg.7086336A>CCA414967375TBL1Yc.1199A>C (p.His400Pro)
c.1241A>C (p.His414Pro)
Yg.7086336A>GCA414967380TBL1Yc.1199A>G (p.His400Arg)
c.1241A>G (p.His414Arg)
gnomAD v3 gnomAD v4
Yg.7086336A>TCA414967377TBL1Yc.1199A>T (p.His400Leu)
c.1241A>T (p.His414Leu)
Yg.7086337C>ACA414967383TBL1Yc.1200C>A (p.His400Gln)
c.1242C>A (p.His414Gln)
Yg.7086337C>GCA414967385TBL1Yc.1200C>G (p.His400Gln)
c.1242C>G (p.His414Gln)
Yg.7086337C>TCA519497952TBL1Yc.1200C>T (p.His400=)
c.1242C>T (p.His414=)
Yg.7086337_7086339delinsCAGCA2469915860TBL1Yc.1200_1202delinsCAG (p.His400=)
c.1242_1244delinsCAG (p.His414=)
Yg.7086338A>CCA414967389TBL1Yc.1201A>C (p.Ser401Arg)
c.1243A>C (p.Ser415Arg)
Yg.7086338A>GCA414967393TBL1Yc.1201A>G (p.Ser401Gly)
c.1243A>G (p.Ser415Gly)
Yg.7086338A>TCA414967392TBL1Yc.1201A>T (p.Ser401Cys)
c.1243A>T (p.Ser415Cys)
Yg.7086338_7086339delCA880387102TBL1Yc.1201_1202del (p.Ser401GlnfsTer30)
c.1243_1244del (p.Ser415GlnfsTer30)
dbSNP gnomAD v3 gnomAD v4
Yg.7086339G>ACA414967394TBL1Yc.1202G>A (p.Ser401Asn)
c.1244G>A (p.Ser415Asn)
Yg.7086339G>CCA414967397TBL1Yc.1202G>C (p.Ser401Thr)
c.1244G>C (p.Ser415Thr)
Yg.7086339G>TCA414967395TBL1Yc.1202G>T (p.Ser401Ile)
c.1244G>T (p.Ser415Ile)
Yg.7086340C>ACA414967400TBL1Yc.1203C>A (p.Ser401Arg)
c.1245C>A (p.Ser415Arg)
COSMIC
Yg.7086340C>GCA414967401TBL1Yc.1203C>G (p.Ser401Arg)
c.1245C>G (p.Ser415Arg)
Yg.7086340C>TCA519497959TBL1Yc.1203C>T (p.Ser401=)
c.1245C>T (p.Ser415=)
Yg.7086340_7086343delinsCAAACA2469915861TBL1Yc.1203_1206delinsCAAA (p.Ser401=)
c.1245_1248delinsCAAA (p.Ser415=)

Number of alleles fetched