Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
Y | g.7086325_7086329delinsTCTTC | CA2469915856 | TBL1Y | c.1188_1192delinsTCTTC (p.Asp396=) c.1230_1234delinsTCTTC (p.Asp410=) | |
Y | g.7086326_7086329del | CA880387088 | TBL1Y | c.1189_1192del (p.Leu397ArgfsTer?) c.1231_1234del (p.Leu411ArgfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
Y | g.7086329C>A | CA414967321 | TBL1Y | c.1192C>A (p.Gln398Lys) c.1234C>A (p.Gln412Lys) | |
Y | g.7086329C>G | CA414967322 | TBL1Y | c.1192C>G (p.Gln398Glu) c.1234C>G (p.Gln412Glu) | |
Y | g.7086329C>T | CA414967325 | TBL1Y | c.1192C>T (p.Gln398Ter) c.1234C>T (p.Gln412Ter) | |
Y | g.7086329_7086330insTA | CA2506947999 | TBL1Y | c.1192_1193insTA (p.Gln398LeufsTer?) c.1234_1235insTA (p.Gln412LeufsTer?) | |
Y | g.7086330del | CA2554603210 | TBL1Y | c.1193del (p.Gln398ArgfsTer?) c.1235del (p.Gln412ArgfsTer?) | |
Y | g.7086330A= | CA2469915857 | TBL1Y | c.1193A= (p.Gln398=) c.1235A= (p.Gln412=) | |
Y | g.7086330A>C | CA414967328 | TBL1Y | c.1193A>C (p.Gln398Pro) c.1235A>C (p.Gln412Pro) | |
Y | g.7086330A>G | CA414967332 | TBL1Y | c.1193A>G (p.Gln398Arg) c.1235A>G (p.Gln412Arg) | |
Y | g.7086330A>T | CA414967336 | TBL1Y | c.1193A>T (p.Gln398Leu) c.1235A>T (p.Gln412Leu) | |
Y | g.7086330_7086331insC | CA880387092 | TBL1Y | c.1193_1194insC (p.Gln398HisfsTer?) c.1235_1236insC (p.Gln412HisfsTer?) | dbSNP |
Y | g.7086330_7086331insATGATAC | CA2530015712 | TBL1Y | c.1193_1194insATGATAC (p.Ala399Ter) c.1235_1236insATGATAC (p.Ala413Ter) | |
Y | g.7086331G>A | CA519497927 | TBL1Y | c.1194G>A (p.Gln398=) c.1236G>A (p.Gln412=) | |
Y | g.7086331G>C | CA414967339 | TBL1Y | c.1194G>C (p.Gln398His) c.1236G>C (p.Gln412His) | gnomAD v3 gnomAD v4 |
Y | g.7086331G>T | CA414967342 | TBL1Y | c.1194G>T (p.Gln398His) c.1236G>T (p.Gln412His) | |
Y | g.7086332G>A | CA414967346 | TBL1Y | c.1195G>A (p.Ala399Thr) c.1237G>A (p.Ala413Thr) | |
Y | g.7086332G>C | CA414967349 | TBL1Y | c.1195G>C (p.Ala399Pro) c.1237G>C (p.Ala413Pro) | |
Y | g.7086332G>T | CA414967350 | TBL1Y | c.1195G>T (p.Ala399Ser) c.1237G>T (p.Ala413Ser) | |
Y | g.7086333C>A | CA414967354 | TBL1Y | c.1196C>A (p.Ala399Asp) c.1238C>A (p.Ala413Asp) | |
Y | g.7086333C= | CA2469915858 | TBL1Y | c.1196C= (p.Ala399=) c.1238C= (p.Ala413=) | |
Y | g.7086333C>G | CA414967359 | TBL1Y | c.1196C>G (p.Ala399Gly) c.1238C>G (p.Ala413Gly) | |
Y | g.7086333C>T | CA414967357 | TBL1Y | c.1196C>T (p.Ala399Val) c.1238C>T (p.Ala413Val) | |
Y | g.7086333_7086334insGA | CA880387095 | TBL1Y | c.1196_1197insGA (p.His400IlefsTer?) c.1238_1239insGA (p.His414IlefsTer?) | dbSNP |
Y | g.7086334T>A | CA519497937 | TBL1Y | c.1197T>A (p.Ala399=) c.1239T>A (p.Ala413=) | |
Y | g.7086334T>C | CA519497939 | TBL1Y | c.1197T>C (p.Ala399=) c.1239T>C (p.Ala413=) | dbSNP gnomAD v3 gnomAD v4 |
Y | g.7086334T>G | CA519497941 | TBL1Y | c.1197T>G (p.Ala399=) c.1239T>G (p.Ala413=) | |
Y | g.7086334T= | CA2469915859 | TBL1Y | c.1197T= (p.Ala399=) c.1239T= (p.Ala413=) | |
Y | g.7086335del | CA2531125520 | TBL1Y | c.1198del (p.His400ThrfsTer?) c.1240del (p.His414ThrfsTer?) | |
Y | g.7086335C>A | CA414967364 | TBL1Y | c.1198C>A (p.His400Asn) c.1240C>A (p.His414Asn) | |
Y | g.7086335C>G | CA414967372 | TBL1Y | c.1198C>G (p.His400Asp) c.1240C>G (p.His414Asp) | |
Y | g.7086335C>T | CA414967367 | TBL1Y | c.1198C>T (p.His400Tyr) c.1240C>T (p.His414Tyr) | |
Y | g.7086336A>C | CA414967375 | TBL1Y | c.1199A>C (p.His400Pro) c.1241A>C (p.His414Pro) | |
Y | g.7086336A>G | CA414967380 | TBL1Y | c.1199A>G (p.His400Arg) c.1241A>G (p.His414Arg) | gnomAD v3 gnomAD v4 |
Y | g.7086336A>T | CA414967377 | TBL1Y | c.1199A>T (p.His400Leu) c.1241A>T (p.His414Leu) | |
Y | g.7086337C>A | CA414967383 | TBL1Y | c.1200C>A (p.His400Gln) c.1242C>A (p.His414Gln) | |
Y | g.7086337C>G | CA414967385 | TBL1Y | c.1200C>G (p.His400Gln) c.1242C>G (p.His414Gln) | |
Y | g.7086337C>T | CA519497952 | TBL1Y | c.1200C>T (p.His400=) c.1242C>T (p.His414=) | |
Y | g.7086337_7086339delinsCAG | CA2469915860 | TBL1Y | c.1200_1202delinsCAG (p.His400=) c.1242_1244delinsCAG (p.His414=) | |
Y | g.7086338A>C | CA414967389 | TBL1Y | c.1201A>C (p.Ser401Arg) c.1243A>C (p.Ser415Arg) | |
Y | g.7086338A>G | CA414967393 | TBL1Y | c.1201A>G (p.Ser401Gly) c.1243A>G (p.Ser415Gly) | |
Y | g.7086338A>T | CA414967392 | TBL1Y | c.1201A>T (p.Ser401Cys) c.1243A>T (p.Ser415Cys) | |
Y | g.7086338_7086339del | CA880387102 | TBL1Y | c.1201_1202del (p.Ser401GlnfsTer30) c.1243_1244del (p.Ser415GlnfsTer30) | dbSNP gnomAD v3 gnomAD v4 |
Y | g.7086339G>A | CA414967394 | TBL1Y | c.1202G>A (p.Ser401Asn) c.1244G>A (p.Ser415Asn) | |
Y | g.7086339G>C | CA414967397 | TBL1Y | c.1202G>C (p.Ser401Thr) c.1244G>C (p.Ser415Thr) | |
Y | g.7086339G>T | CA414967395 | TBL1Y | c.1202G>T (p.Ser401Ile) c.1244G>T (p.Ser415Ile) | |
Y | g.7086340C>A | CA414967400 | TBL1Y | c.1203C>A (p.Ser401Arg) c.1245C>A (p.Ser415Arg) | COSMIC |
Y | g.7086340C>G | CA414967401 | TBL1Y | c.1203C>G (p.Ser401Arg) c.1245C>G (p.Ser415Arg) | |
Y | g.7086340C>T | CA519497959 | TBL1Y | c.1203C>T (p.Ser401=) c.1245C>T (p.Ser415=) | |
Y | g.7086340_7086343delinsCAAA | CA2469915861 | TBL1Y | c.1203_1206delinsCAAA (p.Ser401=) c.1245_1248delinsCAAA (p.Ser415=) |