| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.90766922_90766925delinsTATC | CA2195282932 | BLM | c.2206_2209delinsTATC (p.Tyr736=) n.383_386delinsTATC c.*1130_*1133delinsTATC (n.*1130_*1133delinsTATC) n.232_235delinsTATC c.1081_1084delinsTATC (p.Tyr361=) c.244_247delinsTATC (p.Tyr82=) c.892_895delinsTATC (p.Tyr298=) | |
| 15 | g.90766922_90766928delinsTATCTGA | CA2195282934 | BLM | c.2206_2212delinsTATCTGA (p.Tyr736=) n.383_389delinsTATCTGA c.*1130_*1136delinsTATCTGA (n.*1130_*1136delinsTATCTGA) n.232_238delinsTATCTGA c.1081_1087delinsTATCTGA (p.Tyr361=) c.244_250delinsTATCTGA (p.Tyr82=) c.892_898delinsTATCTGA (p.Tyr298=) | |
| 15 | g.90766922_90766928delinsATTAGATT | CA2580610793 | BLM | c.2206_2212delinsATTAGATT (p.Tyr736IlefsTer5) n.383_389delinsATTAGATT c.*1130_*1136delinsATTAGATT (n.*1130_*1136delinsATTAGATT) n.232_238delinsATTAGATT c.1081_1087delinsATTAGATT (p.Tyr361IlefsTer5) c.244_250delinsATTAGATT (p.Tyr82IlefsTer5) c.892_898delinsATTAGATT (p.Tyr298IlefsTer5) | |
| 15 | g.90766923A= | CA2195282947 | BLM | c.2207A= (p.Tyr736=) n.384A= c.*1131A= (n.*1131A=) n.233A= c.1082A= (p.Tyr361=) c.245A= (p.Tyr82=) c.893A= (p.Tyr298=) | |
| 15 | g.90766923A>C | CA393844792 | BLM | c.2207A>C (p.Tyr736Ser) n.384A>C c.*1131A>C (n.*1131A>C) n.233A>C c.1082A>C (p.Tyr361Ser) c.245A>C (p.Tyr82Ser) c.893A>C (p.Tyr298Ser) | |
| 15 | g.90766923A>G | CA7738698 | BLM | c.2207A>G (p.Tyr736Cys) n.384A>G c.*1131A>G (n.*1131A>G) n.233A>G c.1082A>G (p.Tyr361Cys) c.245A>G (p.Tyr82Cys) c.893A>G (p.Tyr298Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90766923A>T | CA393844793 | BLM | c.2207A>T (p.Tyr736Phe) n.384A>T c.*1131A>T (n.*1131A>T) n.233A>T c.1082A>T (p.Tyr361Phe) c.245A>T (p.Tyr82Phe) c.893A>T (p.Tyr298Phe) | |
| 15 | g.90766923_90766925del | CA7738697 | BLM | c.2207_2209del (p.Tyr736del) n.384_386del c.*1131_*1133del (n.*1131_*1133del) n.233_235del c.1082_1084del (p.Tyr361del) c.245_247del (p.Tyr82del) c.893_895del (p.Tyr298del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90766923_90766928delinsTAGATTC | CA284839 | BLM | c.2207_2212delinsTAGATTC (p.Tyr736LeufsTer5) n.384_389delinsTAGATTC c.*1131_*1136delinsTAGATTC (n.*1131_*1136delinsTAGATTC) n.233_238delinsTAGATTC c.1082_1087delinsTAGATTC (p.Tyr361LeufsTer5) c.245_250delinsTAGATTC (p.Tyr82LeufsTer5) c.893_898delinsTAGATTC (p.Tyr298LeufsTer5) | ClinVar dbSNP |
| 15 | g.90766923_90766929delinsATCTGAC | CA2195282950 | BLM | c.2207_2213delinsATCTGAC (p.Tyr736=) n.384_390delinsATCTGAC c.*1131_*1137delinsATCTGAC (n.*1131_*1137delinsATCTGAC) n.233_239delinsATCTGAC c.1082_1088delinsATCTGAC (p.Tyr361=) c.245_251delinsATCTGAC (p.Tyr82=) c.893_899delinsATCTGAC (p.Tyr298=) | |
| 15 | g.90766924T>A | CA393844794 | BLM | c.2208T>A (p.Tyr736Ter) n.385T>A c.*1132T>A (n.*1132T>A) n.234T>A c.1083T>A (p.Tyr361Ter) c.246T>A (p.Tyr82Ter) c.894T>A (p.Tyr298Ter) | |
| 15 | g.90766924T>C | CA492159678 | BLM | c.2208T>C (p.Tyr736=) n.385T>C c.*1132T>C (n.*1132T>C) n.234T>C c.1083T>C (p.Tyr361=) c.246T>C (p.Tyr82=) c.894T>C (p.Tyr298=) | gnomAD v4 |
| 15 | g.90766924T>G | CA274741639 | BLM | c.2208T>G (p.Tyr736Ter) n.385T>G c.*1132T>G (n.*1132T>G) n.234T>G c.1083T>G (p.Tyr361Ter) c.246T>G (p.Tyr82Ter) c.894T>G (p.Tyr298Ter) | ClinVar dbSNP |
| 15 | g.90766924T= | CA2195282956 | BLM | c.2208T= (p.Tyr736=) n.385T= c.*1132T= (n.*1132T=) n.234T= c.1083T= (p.Tyr361=) c.246T= (p.Tyr82=) c.894T= (p.Tyr298=) | |
| 15 | g.90766924dup | CA919616381 | BLM | c.2208dup (p.Leu737SerfsTer4) n.385dup c.*1132dup (n.*1132dup) n.234dup c.1083dup (p.Leu362SerfsTer4) c.246dup (p.Leu83SerfsTer4) c.894dup (p.Leu299SerfsTer4) | dbSNP |
| 15 | g.90766924_90766925delinsGA | CA2580610782 | BLM | c.2208_2209delinsGA (p.Tyr736Ter) n.385_386delinsGA c.*1132_*1133delinsGA (n.*1132_*1133delinsGA) n.234_235delinsGA c.1083_1084delinsGA (p.Tyr361Ter) c.246_247delinsGA (p.Tyr82Ter) c.894_895delinsGA (p.Tyr298Ter) | |
| 15 | g.90766924_90766928delinsGATTC | CA2580613321 | BLM | c.2208_2212delinsGATTC (p.Tyr736Ter) n.385_389delinsGATTC c.*1132_*1136delinsGATTC (n.*1132_*1136delinsGATTC) n.234_238delinsGATTC c.1083_1087delinsGATTC (p.Tyr361Ter) c.246_250delinsGATTC (p.Tyr82Ter) c.894_898delinsGATTC (p.Tyr298Ter) | ClinVar |
| 15 | g.90766924_90766929delinsGATATGT | CA915946154 | BLM | c.2208_2213delinsGATATGT (p.Tyr736Ter) n.385_390delinsGATATGT c.*1132_*1137delinsGATATGT (n.*1132_*1137delinsGATATGT) n.234_239delinsGATATGT c.1083_1088delinsGATATGT (p.Tyr361Ter) c.246_251delinsGATATGT (p.Tyr82Ter) c.894_899delinsGATATGT (p.Tyr298Ter) | ClinVar dbSNP |
| 15 | g.90766925C>A | CA274741644 | BLM | c.2209C>A (p.Leu737Met) n.386C>A c.*1133C>A (n.*1133C>A) n.235C>A c.1084C>A (p.Leu362Met) c.247C>A (p.Leu83Met) c.895C>A (p.Leu299Met) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90766925C= | CA2195282958 | BLM | c.2209C= (p.Leu737=) n.386C= c.*1133C= (n.*1133C=) n.235C= c.1084C= (p.Leu362=) c.247C= (p.Leu83=) c.895C= (p.Leu299=) | |
| 15 | g.90766925C>G | CA393844795 | BLM | c.2209C>G (p.Leu737Val) n.386C>G c.*1133C>G (n.*1133C>G) n.235C>G c.1084C>G (p.Leu362Val) c.247C>G (p.Leu83Val) c.895C>G (p.Leu299Val) | |
| 15 | g.90766925C>T | CA492159684 | BLM | c.2209C>T (p.Leu737=) n.386C>T c.*1133C>T (n.*1133C>T) n.235C>T c.1084C>T (p.Leu362=) c.247C>T (p.Leu83=) c.895C>T (p.Leu299=) | ClinVar dbSNP |
| 15 | g.90766926T>A | CA393844796 | BLM | c.2210T>A (p.Leu737Gln) n.387T>A c.*1134T>A (n.*1134T>A) n.236T>A c.1085T>A (p.Leu362Gln) c.248T>A (p.Leu83Gln) c.896T>A (p.Leu299Gln) | |
| 15 | g.90766926T>C | CA393844797 | BLM | c.2210T>C (p.Leu737Pro) n.387T>C c.*1134T>C (n.*1134T>C) n.236T>C c.1085T>C (p.Leu362Pro) c.248T>C (p.Leu83Pro) c.896T>C (p.Leu299Pro) | gnomAD v4 |
| 15 | g.90766926T>G | CA393844798 | BLM | c.2210T>G (p.Leu737Arg) n.387T>G c.*1134T>G (n.*1134T>G) n.236T>G c.1085T>G (p.Leu362Arg) c.248T>G (p.Leu83Arg) c.896T>G (p.Leu299Arg) | |
| 15 | g.90766926T= | CA2195282961 | BLM | c.2210T= (p.Leu737=) n.387T= c.*1134T= (n.*1134T=) n.236T= c.1085T= (p.Leu362=) c.248T= (p.Leu83=) c.896T= (p.Leu299=) | |
| 15 | g.90766926dup | CA919616382 | BLM | c.2210dup (p.Thr738AspfsTer3) n.387dup c.*1134dup (n.*1134dup) n.236dup c.1085dup (p.Thr363AspfsTer3) c.248dup (p.Thr84AspfsTer3) c.896dup (p.Thr300AspfsTer3) | dbSNP |
| 15 | g.90766926_90766928del | CA2499223152 | BLM | c.2210_2212del (p.Leu737_Thr738delinsPro) n.387_389del c.*1134_*1136del (n.*1134_*1136del) n.236_238del c.1085_1087del (p.Leu362_Thr363delinsPro) c.248_250del (p.Leu83_Thr84delinsPro) c.896_898del (p.Leu299_Thr300delinsPro) | dbSNP |
| 15 | g.90766926_90766927insA | CA7738699 | BLM | c.2210_2211insA (p.Thr738AspfsTer3) n.387_388insA c.*1134_*1135insA (n.*1134_*1135insA) n.236_237insA c.1085_1086insA (p.Thr363AspfsTer3) c.248_249insA (p.Thr84AspfsTer3) c.896_897insA (p.Thr300AspfsTer3) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90766927G>A | CA492159691 | BLM | c.2211G>A (p.Leu737=) n.388G>A c.*1135G>A (n.*1135G>A) n.237G>A c.1086G>A (p.Leu362=) c.249G>A (p.Leu83=) c.897G>A (p.Leu299=) | |
| 15 | g.90766927G>C | CA492159689 | BLM | c.2211G>C (p.Leu737=) n.388G>C c.*1135G>C (n.*1135G>C) n.237G>C c.1086G>C (p.Leu362=) c.249G>C (p.Leu83=) c.897G>C (p.Leu299=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.90766927G= | CA2195282968 | BLM | c.2211G= (p.Leu737=) n.388G= c.*1135G= (n.*1135G=) n.237G= c.1086G= (p.Leu362=) c.249G= (p.Leu83=) c.897G= (p.Leu299=) | |
| 15 | g.90766927G>T | CA274741659 | BLM | c.2211G>T (p.Leu737=) n.388G>T c.*1135G>T (n.*1135G>T) n.237G>T c.1086G>T (p.Leu362=) c.249G>T (p.Leu83=) c.897G>T (p.Leu299=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90766927_90766928delinsTC | CA2580610781 | BLM | c.2211_2212delinsTC (p.Thr738Pro) n.388_389delinsTC c.*1135_*1136delinsTC (n.*1135_*1136delinsTC) n.237_238delinsTC c.1086_1087delinsTC (p.Thr363Pro) c.249_250delinsTC (p.Thr84Pro) c.897_898delinsTC (p.Thr300Pro) | |
| 15 | g.90766928A= | CA2195282970 | BLM | c.2212A= (p.Thr738=) n.389A= c.*1136A= (n.*1136A=) n.238A= c.1087A= (p.Thr363=) c.250A= (p.Thr84=) c.898A= (p.Thr300=) | |
| 15 | g.90766928A>C | CA274741672 | BLM | c.2212A>C (p.Thr738Pro) n.389A>C c.*1136A>C (n.*1136A>C) n.238A>C c.1087A>C (p.Thr363Pro) c.250A>C (p.Thr84Pro) c.898A>C (p.Thr300Pro) | dbSNP |
| 15 | g.90766928A>G | CA393844800 | BLM | c.2212A>G (p.Thr738Ala) n.389A>G c.*1136A>G (n.*1136A>G) n.238A>G c.1087A>G (p.Thr363Ala) c.250A>G (p.Thr84Ala) c.898A>G (p.Thr300Ala) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90766928A>T | CA393844799 | BLM | c.2212A>T (p.Thr738Ser) n.389A>T c.*1136A>T (n.*1136A>T) n.238A>T c.1087A>T (p.Thr363Ser) c.250A>T (p.Thr84Ser) c.898A>T (p.Thr300Ser) | gnomAD v4 |
| 15 | g.90766928_90766929insTTC | CA7738700 | BLM | c.2212_2213insTTC (p.Thr738delinsIlePro) n.389_390insTTC c.*1136_*1137insTTC (n.*1136_*1137insTTC) n.238_239insTTC c.1087_1088insTTC (p.Thr363delinsIlePro) c.250_251insTTC (p.Thr84delinsIlePro) c.898_899insTTC (p.Thr300delinsIlePro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90766929C>A | CA393844801 | BLM | c.2213C>A (p.Thr738Lys) n.390C>A c.*1137C>A (n.*1137C>A) n.239C>A c.1088C>A (p.Thr363Lys) c.251C>A (p.Thr84Lys) c.899C>A (p.Thr300Lys) | gnomAD v4 |
| 15 | g.90766929C= | CA2195282978 | BLM | c.2213C= (p.Thr738=) n.390C= c.*1137C= (n.*1137C=) n.239C= c.1088C= (p.Thr363=) c.251C= (p.Thr84=) c.899C= (p.Thr300=) | |
| 15 | g.90766929C>G | CA393844802 | BLM | c.2213C>G (p.Thr738Arg) n.390C>G c.*1137C>G (n.*1137C>G) n.239C>G c.1088C>G (p.Thr363Arg) c.251C>G (p.Thr84Arg) c.899C>G (p.Thr300Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.90766929C>T | CA393844803 | BLM | c.2213C>T (p.Thr738Ile) n.390C>T c.*1137C>T (n.*1137C>T) n.239C>T c.1088C>T (p.Thr363Ile) c.251C>T (p.Thr84Ile) c.899C>T (p.Thr300Ile) | ClinVar gnomAD v4 |
| 15 | g.90766930A= | CA2195282981 | BLM | c.2214A= (p.Thr738=) n.391A= c.*1138A= (n.*1138A=) n.240A= c.1089A= (p.Thr363=) c.252A= (p.Thr84=) c.900A= (p.Thr300=) | |
| 15 | g.90766930A>C | CA492159700 | BLM | c.2214A>C (p.Thr738=) n.391A>C c.*1138A>C (n.*1138A>C) n.240A>C c.1089A>C (p.Thr363=) c.252A>C (p.Thr84=) c.900A>C (p.Thr300=) | |
| 15 | g.90766930A>G | CA492159702 | BLM | c.2214A>G (p.Thr738=) n.391A>G c.*1138A>G (n.*1138A>G) n.240A>G c.1089A>G (p.Thr363=) c.252A>G (p.Thr84=) c.900A>G (p.Thr300=) | ClinVar dbSNP |
| 15 | g.90766930A>T | CA492159704 | BLM | c.2214A>T (p.Thr738=) n.391A>T c.*1138A>T (n.*1138A>T) n.240A>T c.1089A>T (p.Thr363=) c.252A>T (p.Thr84=) c.900A>T (p.Thr300=) | |
| 15 | g.90766931G>A | CA7738701 | BLM | c.2215G>A (p.Gly739Ser) n.392G>A c.*1139G>A (n.*1139G>A) n.241G>A c.1090G>A (p.Gly364Ser) c.253G>A (p.Gly85Ser) c.901G>A (p.Gly301Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.90766931G>C | CA393844804 | BLM | c.2215G>C (p.Gly739Arg) n.392G>C c.*1139G>C (n.*1139G>C) n.241G>C c.1090G>C (p.Gly364Arg) c.253G>C (p.Gly85Arg) c.901G>C (p.Gly301Arg) | |
| 15 | g.90766931G= | CA2195282984 | BLM | c.2215G= (p.Gly739=) n.392G= c.*1139G= (n.*1139G=) n.241G= c.1090G= (p.Gly364=) c.253G= (p.Gly85=) c.901G= (p.Gly301=) |