UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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.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.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=) | |
| 15 | g.90766931G>T | CA393844805 | BLM | c.2215G>T (p.Gly739Cys) n.392G>T c.*1139G>T (n.*1139G>T) n.241G>T c.1090G>T (p.Gly364Cys) c.253G>T (p.Gly85Cys) c.901G>T (p.Gly301Cys) | |
| 15 | g.90766932G>A | CA393844806 | BLM | c.2216G>A (p.Gly739Asp) n.393G>A c.*1140G>A (n.*1140G>A) n.242G>A c.1091G>A (p.Gly364Asp) c.254G>A (p.Gly85Asp) c.902G>A (p.Gly301Asp) | |
| 15 | g.90766932G>C | CA393844807 | BLM | c.2216G>C (p.Gly739Ala) n.393G>C c.*1140G>C (n.*1140G>C) n.242G>C c.1091G>C (p.Gly364Ala) c.254G>C (p.Gly85Ala) c.902G>C (p.Gly301Ala) | |
| 15 | g.90766932G>T | CA393844808 | BLM | c.2216G>T (p.Gly739Val) n.393G>T c.*1140G>T (n.*1140G>T) n.242G>T c.1091G>T (p.Gly364Val) c.254G>T (p.Gly85Val) c.902G>T (p.Gly301Val) | |
| 15 | g.90766933T>A | CA492159712 | BLM | c.2217T>A (p.Gly739=) n.394T>A c.*1141T>A (n.*1141T>A) n.243T>A c.1092T>A (p.Gly364=) c.255T>A (p.Gly85=) c.903T>A (p.Gly301=) | |
| 15 | g.90766933T>C | CA492159713 | BLM | c.2217T>C (p.Gly739=) n.394T>C c.*1141T>C (n.*1141T>C) n.243T>C c.1092T>C (p.Gly364=) c.255T>C (p.Gly85=) c.903T>C (p.Gly301=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.90766933T>G | CA492159714 | BLM | c.2217T>G (p.Gly739=) n.394T>G c.*1141T>G (n.*1141T>G) n.243T>G c.1092T>G (p.Gly364=) c.255T>G (p.Gly85=) c.903T>G (p.Gly301=) | ClinVar dbSNP |
| 15 | g.90766933T= | CA2195282987 | BLM | c.2217T= (p.Gly739=) n.394T= c.*1141T= (n.*1141T=) n.243T= c.1092T= (p.Gly364=) c.255T= (p.Gly85=) c.903T= (p.Gly301=) | |
| 15 | g.90766934G>A | CA393844809 | BLM | c.2218G>A (p.Asp740Asn) n.395G>A c.*1142G>A (n.*1142G>A) n.244G>A c.1093G>A (p.Asp365Asn) c.256G>A (p.Asp86Asn) c.904G>A (p.Asp302Asn) | |
| 15 | g.90766934G>C | CA393844811 | BLM | c.2218G>C (p.Asp740His) n.395G>C c.*1142G>C (n.*1142G>C) n.244G>C c.1093G>C (p.Asp365His) c.256G>C (p.Asp86His) c.904G>C (p.Asp302His) | |
| 15 | g.90766934G>T | CA393844810 | BLM | c.2218G>T (p.Asp740Tyr) n.395G>T c.*1142G>T (n.*1142G>T) n.244G>T c.1093G>T (p.Asp365Tyr) c.256G>T (p.Asp86Tyr) c.904G>T (p.Asp302Tyr) | |
| 15 | g.90766935A= | CA2195282991 | BLM | c.2219A= (p.Asp740=) n.396A= c.*1143A= (n.*1143A=) n.245A= c.1094A= (p.Asp365=) c.257A= (p.Asp86=) c.905A= (p.Asp302=) | |
| 15 | g.90766935A>C | CA393844812 | BLM | c.2219A>C (p.Asp740Ala) n.396A>C c.*1143A>C (n.*1143A>C) n.245A>C c.1094A>C (p.Asp365Ala) c.257A>C (p.Asp86Ala) c.905A>C (p.Asp302Ala) | |
| 15 | g.90766935A>G | CA393844814 | BLM | c.2219A>G (p.Asp740Gly) n.396A>G c.*1143A>G (n.*1143A>G) n.245A>G c.1094A>G (p.Asp365Gly) c.257A>G (p.Asp86Gly) c.905A>G (p.Asp302Gly) | dbSNP gnomAD v4 |
| 15 | g.90766935A>T | CA393844813 | BLM | c.2219A>T (p.Asp740Val) n.396A>T c.*1143A>T (n.*1143A>T) n.245A>T c.1094A>T (p.Asp365Val) c.257A>T (p.Asp86Val) c.905A>T (p.Asp302Val) | |
| 15 | g.90766936T>A | CA393844815 | BLM | c.2220T>A (p.Asp740Glu) n.397T>A c.*1144T>A (n.*1144T>A) n.246T>A c.1095T>A (p.Asp365Glu) c.258T>A (p.Asp86Glu) c.906T>A (p.Asp302Glu) | |
| 15 | g.90766936T>C | CA492159723 | BLM | c.2220T>C (p.Asp740=) n.397T>C c.*1144T>C (n.*1144T>C) n.246T>C c.1095T>C (p.Asp365=) c.258T>C (p.Asp86=) c.906T>C (p.Asp302=) | ClinVar dbSNP |
| 15 | g.90766936T>G | CA393844816 | BLM | c.2220T>G (p.Asp740Glu) n.397T>G c.*1144T>G (n.*1144T>G) n.246T>G c.1095T>G (p.Asp365Glu) c.258T>G (p.Asp86Glu) c.906T>G (p.Asp302Glu) | |
| 15 | g.90766936_90766937insG | CA492159727 | BLM | c.2220_2221insG (p.Lys741GlufsTer3) n.397_398insG c.*1144_*1145insG (n.*1144_*1145insG) n.246_247insG c.1095_1096insG (p.Lys366GlufsTer3) c.258_259insG (p.Lys87GlufsTer3) c.906_907insG (p.Lys303GlufsTer3) | |
| 15 | g.90766936_90766937insGTAAAAGGTGGTAAGATAGGA | CA2560401021 | BLM | c.2220_2221insGTAAAAGGTGGTAAGATAGGA (p.Asp740_Lys741insValLysGlyGlyLysIleGly) n.397_398insGTAAAAGGTGGTAAGATAGGA c.*1144_*1145insGTAAAAGGTGGTAAGATAGGA (n.*1144_*1145insGTAAAAGGTGGTAAGATAGGA) n.246_247insGTAAAAGGTGGTAAGATAGGA c.1095_1096insGTAAAAGGTGGTAAGATAGGA (p.Asp365_Lys366insValLysGlyGlyLysIleGly) c.258_259insGTAAAAGGTGGTAAGATAGGA (p.Asp86_Lys87insValLysGlyGlyLysIleGly) c.906_907insGTAAAAGGTGGTAAGATAGGA (p.Asp302_Lys303insValLysGlyGlyLysIleGly) | |
| 15 | g.90766937A= | CA2195282994 | BLM | c.2221A= (p.Lys741=) n.398A= c.*1145A= (n.*1145A=) n.247A= c.1096A= (p.Lys366=) c.259A= (p.Lys87=) c.907A= (p.Lys303=) | |
| 15 | g.90766937A>C | CA393844817 | BLM | c.2221A>C (p.Lys741Gln) n.398A>C c.*1145A>C (n.*1145A>C) n.247A>C c.1096A>C (p.Lys366Gln) c.259A>C (p.Lys87Gln) c.907A>C (p.Lys303Gln) | ClinVar |
| 15 | g.90766937A>G | CA393844818 | BLM | c.2221A>G (p.Lys741Glu) n.398A>G c.*1145A>G (n.*1145A>G) n.247A>G c.1096A>G (p.Lys366Glu) c.259A>G (p.Lys87Glu) c.907A>G (p.Lys303Glu) | |
| 15 | g.90766937A>T | CA393844819 | BLM | c.2221A>T (p.Lys741Ter) n.398A>T c.*1145A>T (n.*1145A>T) n.247A>T c.1096A>T (p.Lys366Ter) c.259A>T (p.Lys87Ter) c.907A>T (p.Lys303Ter) | ClinVar dbSNP |
| 15 | g.90766938A>C | CA393844820 | BLM | c.2222A>C (p.Lys741Thr) n.399A>C c.*1146A>C (n.*1146A>C) n.248A>C c.1097A>C (p.Lys366Thr) c.260A>C (p.Lys87Thr) c.908A>C (p.Lys303Thr) | |
| 15 | g.90766938A>G | CA393844821 | BLM | c.2222A>G (p.Lys741Arg) n.399A>G c.*1146A>G (n.*1146A>G) n.248A>G c.1097A>G (p.Lys366Arg) c.260A>G (p.Lys87Arg) c.908A>G (p.Lys303Arg) | |
| 15 | g.90766938A>T | CA393844822 | BLM | c.2222A>T (p.Lys741Met) n.399A>T c.*1146A>T (n.*1146A>T) n.248A>T c.1097A>T (p.Lys366Met) c.260A>T (p.Lys87Met) c.908A>T (p.Lys303Met) | |
| 15 | g.90766938_90766939insAAAGGTG | CA492159736 | BLM | c.2222_2223insAAAGGTG (p.Thr742LysfsTer4) n.399_400insAAAGGTG c.*1146_*1147insAAAGGTG (n.*1146_*1147insAAAGGTG) n.248_249insAAAGGTG c.1097_1098insAAAGGTG (p.Thr367LysfsTer4) c.260_261insAAAGGTG (p.Thr88LysfsTer4) c.908_909insAAAGGTG (p.Thr304LysfsTer4) | |
| 15 | g.90766939G>A | CA492159735 | BLM | c.2223G>A (p.Lys741=) n.400G>A c.*1147G>A (n.*1147G>A) n.249G>A c.1098G>A (p.Lys366=) c.261G>A (p.Lys87=) c.909G>A (p.Lys303=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.90766939G>C | CA393844824 | BLM | c.2223G>C (p.Lys741Asn) n.400G>C c.*1147G>C (n.*1147G>C) n.249G>C c.1098G>C (p.Lys366Asn) c.261G>C (p.Lys87Asn) c.909G>C (p.Lys303Asn) | |
| 15 | g.90766939G= | CA2195282997 | BLM | c.2223G= (p.Lys741=) n.400G= c.*1147G= (n.*1147G=) n.249G= c.1098G= (p.Lys366=) c.261G= (p.Lys87=) c.909G= (p.Lys303=) | |
| 15 | g.90766939G>T | CA393844823 | BLM | c.2223G>T (p.Lys741Asn) n.400G>T c.*1147G>T (n.*1147G>T) n.249G>T c.1098G>T (p.Lys366Asn) c.261G>T (p.Lys87Asn) c.909G>T (p.Lys303Asn) | ClinVar gnomAD v4 |
| 15 | g.90766940A= | CA2195282999 | BLM | c.2224A= (p.Thr742=) n.401A= c.*1148A= (n.*1148A=) n.250A= c.1099A= (p.Thr367=) c.262A= (p.Thr88=) c.910A= (p.Thr304=) | |
| 15 | g.90766940A>C | CA393844825 | BLM | c.2224A>C (p.Thr742Pro) n.401A>C c.*1148A>C (n.*1148A>C) n.250A>C c.1099A>C (p.Thr367Pro) c.262A>C (p.Thr88Pro) c.910A>C (p.Thr304Pro) | |
| 15 | g.90766940A>G | CA393844826 | BLM | c.2224A>G (p.Thr742Ala) n.401A>G c.*1148A>G (n.*1148A>G) n.250A>G c.1099A>G (p.Thr367Ala) c.262A>G (p.Thr88Ala) c.910A>G (p.Thr304Ala) | |
| 15 | g.90766940A>T | CA393844827 | BLM | c.2224A>T (p.Thr742Ser) n.401A>T c.*1148A>T (n.*1148A>T) n.250A>T c.1099A>T (p.Thr367Ser) c.262A>T (p.Thr88Ser) c.910A>T (p.Thr304Ser) | ClinVar dbSNP |
| 15 | g.90766941del | CA2580090564 | BLM | c.2225del (p.Thr742MetfsTer19) n.402del c.*1149del (n.*1149del) n.251del c.1100del (p.Thr367MetfsTer19) c.263del (p.Thr88MetfsTer19) c.911del (p.Thr304MetfsTer19) | ClinVar |
| 15 | g.90766941C>A | CA393844828 | BLM | c.2225C>A (p.Thr742Asn) n.402C>A c.*1149C>A (n.*1149C>A) n.251C>A c.1100C>A (p.Thr367Asn) c.263C>A (p.Thr88Asn) c.911C>A (p.Thr304Asn) | gnomAD v4 |
| 15 | g.90766941C>G | CA393844829 | BLM | c.2225C>G (p.Thr742Ser) n.402C>G c.*1149C>G (n.*1149C>G) n.251C>G c.1100C>G (p.Thr367Ser) c.263C>G (p.Thr88Ser) c.911C>G (p.Thr304Ser) | |
| 15 | g.90766941C>T | CA393844830 | BLM | c.2225C>T (p.Thr742Ile) n.402C>T c.*1149C>T (n.*1149C>T) n.251C>T c.1100C>T (p.Thr367Ile) c.263C>T (p.Thr88Ile) c.911C>T (p.Thr304Ile) | gnomAD v4 |
| 15 | g.90766942T>A | CA492159748 | BLM | c.2226T>A (p.Thr742=) n.403T>A c.*1150T>A (n.*1150T>A) n.252T>A c.1101T>A (p.Thr367=) c.264T>A (p.Thr88=) c.912T>A (p.Thr304=) | |
| 15 | g.90766942T>C | CA492159744 | BLM | c.2226T>C (p.Thr742=) n.403T>C c.*1150T>C (n.*1150T>C) n.252T>C c.1101T>C (p.Thr367=) c.264T>C (p.Thr88=) c.912T>C (p.Thr304=) | ClinVar dbSNP |
| 15 | g.90766942T>G | CA492159746 | BLM | c.2226T>G (p.Thr742=) n.403T>G c.*1150T>G (n.*1150T>G) n.252T>G c.1101T>G (p.Thr367=) c.264T>G (p.Thr88=) c.912T>G (p.Thr304=) | |
| 15 | g.90766943del | CA2575835940 | BLM | c.2227del (p.Asp743ThrfsTer18) n.404del c.*1151del (n.*1151del) n.253del c.1102del (p.Asp368ThrfsTer18) c.265del (p.Asp89ThrfsTer18) c.913del (p.Asp305ThrfsTer18) | |
| 15 | g.90766943G>A | CA393844831 | BLM | c.2227G>A (p.Asp743Asn) n.404G>A c.*1151G>A (n.*1151G>A) n.253G>A c.1102G>A (p.Asp368Asn) c.265G>A (p.Asp89Asn) c.913G>A (p.Asp305Asn) | COSMIC |
| 15 | g.90766943G>C | CA393844833 | BLM | c.2227G>C (p.Asp743His) n.404G>C c.*1151G>C (n.*1151G>C) n.253G>C c.1102G>C (p.Asp368His) c.265G>C (p.Asp89His) c.913G>C (p.Asp305His) | |
| 15 | g.90766943G>T | CA393844832 | BLM | c.2227G>T (p.Asp743Tyr) n.404G>T c.*1151G>T (n.*1151G>T) n.253G>T c.1102G>T (p.Asp368Tyr) c.265G>T (p.Asp89Tyr) c.913G>T (p.Asp305Tyr) | gnomAD v4 |
| 15 | g.90766944A>C | CA393844834 | BLM | c.2228A>C (p.Asp743Ala) n.405A>C c.*1152A>C (n.*1152A>C) n.254A>C c.1103A>C (p.Asp368Ala) c.266A>C (p.Asp89Ala) c.914A>C (p.Asp305Ala) | gnomAD v4 |
| 15 | g.90766944A>G | CA393844835 | BLM | c.2228A>G (p.Asp743Gly) n.405A>G c.*1152A>G (n.*1152A>G) n.254A>G c.1103A>G (p.Asp368Gly) c.266A>G (p.Asp89Gly) c.914A>G (p.Asp305Gly) | |
| 15 | g.90766944A>T | CA393844836 | BLM | c.2228A>T (p.Asp743Val) n.405A>T c.*1152A>T (n.*1152A>T) n.254A>T c.1103A>T (p.Asp368Val) c.266A>T (p.Asp89Val) c.914A>T (p.Asp305Val) | |
| 15 | g.90766945C>A | CA393844837 | BLM | c.2229C>A (p.Asp743Glu) n.406C>A c.*1153C>A (n.*1153C>A) n.255C>A c.1104C>A (p.Asp368Glu) c.267C>A (p.Asp89Glu) c.915C>A (p.Asp305Glu) | gnomAD v4 |
| 15 | g.90766945C= | CA2195283003 | BLM | c.2229C= (p.Asp743=) n.406C= c.*1153C= (n.*1153C=) n.255C= c.1104C= (p.Asp368=) c.267C= (p.Asp89=) c.915C= (p.Asp305=) | |
| 15 | g.90766945C>G | CA393844838 | BLM | c.2229C>G (p.Asp743Glu) n.406C>G c.*1153C>G (n.*1153C>G) n.255C>G c.1104C>G (p.Asp368Glu) c.267C>G (p.Asp89Glu) c.915C>G (p.Asp305Glu) | |
| 15 | g.90766945C>T | CA274741701 | BLM | c.2229C>T (p.Asp743=) n.406C>T c.*1153C>T (n.*1153C>T) n.255C>T c.1104C>T (p.Asp368=) c.267C>T (p.Asp89=) c.915C>T (p.Asp305=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.90766946T>A | CA393844839 | BLM | c.2230T>A (p.Ser744Thr) n.407T>A c.*1154T>A (n.*1154T>A) n.256T>A c.1105T>A (p.Ser369Thr) c.268T>A (p.Ser90Thr) c.916T>A (p.Ser306Thr) | |
| 15 | g.90766946T>C | CA393844840 | BLM | c.2230T>C (p.Ser744Pro) n.407T>C c.*1154T>C (n.*1154T>C) n.256T>C c.1105T>C (p.Ser369Pro) c.268T>C (p.Ser90Pro) c.916T>C (p.Ser306Pro) | gnomAD v4 |
| 15 | g.90766946T>G | CA393844841 | BLM | c.2230T>G (p.Ser744Ala) n.407T>G c.*1154T>G (n.*1154T>G) n.256T>G c.1105T>G (p.Ser369Ala) c.268T>G (p.Ser90Ala) c.916T>G (p.Ser306Ala) | |
| 15 | g.90766947C>A | CA393844842 | BLM | c.2231C>A (p.Ser744Ter) n.408C>A c.*1155C>A (n.*1155C>A) n.257C>A c.1106C>A (p.Ser369Ter) c.269C>A (p.Ser90Ter) c.917C>A (p.Ser306Ter) | |
| 15 | g.90766947C= | CA2195283008 | BLM | c.2231C= (p.Ser744=) n.408C= c.*1155C= (n.*1155C=) n.257C= c.1106C= (p.Ser369=) c.269C= (p.Ser90=) c.917C= (p.Ser306=) | |
| 15 | g.90766947C>G | CA393844843 | BLM | c.2231C>G (p.Ser744Ter) n.408C>G c.*1155C>G (n.*1155C>G) n.257C>G c.1106C>G (p.Ser369Ter) c.269C>G (p.Ser90Ter) c.917C>G (p.Ser306Ter) | |
| 15 | g.90766947C>T | CA393844844 | BLM | c.2231C>T (p.Ser744Leu) n.408C>T c.*1155C>T (n.*1155C>T) n.257C>T c.1106C>T (p.Ser369Leu) c.269C>T (p.Ser90Leu) c.917C>T (p.Ser306Leu) | dbSNP |
| 15 | g.90766948A>C | CA492159761 | BLM | c.2232A>C (p.Ser744=) n.409A>C c.*1156A>C (n.*1156A>C) n.258A>C c.1107A>C (p.Ser369=) c.270A>C (p.Ser90=) c.918A>C (p.Ser306=) | |
| 15 | g.90766948A>G | CA492159763 | BLM | c.2232A>G (p.Ser744=) n.409A>G c.*1156A>G (n.*1156A>G) n.258A>G c.1107A>G (p.Ser369=) c.270A>G (p.Ser90=) c.918A>G (p.Ser306=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90766948A>T | CA492159764 | BLM | c.2232A>T (p.Ser744=) n.409A>T c.*1156A>T (n.*1156A>T) n.258A>T c.1107A>T (p.Ser369=) c.270A>T (p.Ser90=) c.918A>T (p.Ser306=) | |
| 15 | g.90766949G>A | CA393844845 | BLM | c.2233G>A (p.Glu745Lys) n.410G>A c.*1157G>A (n.*1157G>A) n.259G>A c.1108G>A (p.Glu370Lys) c.271G>A (p.Glu91Lys) c.919G>A (p.Glu307Lys) | ClinVar dbSNP |
| 15 | g.90766949G>C | CA393844847 | BLM | c.2233G>C (p.Glu745Gln) n.410G>C c.*1157G>C (n.*1157G>C) n.259G>C c.1108G>C (p.Glu370Gln) c.271G>C (p.Glu91Gln) c.919G>C (p.Glu307Gln) | |
| 15 | g.90766949G= | CA2195283013 | BLM | c.2233G= (p.Glu745=) n.410G= c.*1157G= (n.*1157G=) n.259G= c.1108G= (p.Glu370=) c.271G= (p.Glu91=) c.919G= (p.Glu307=) | |
| 15 | g.90766949G>T | CA393844846 | BLM | c.2233G>T (p.Glu745Ter) n.410G>T c.*1157G>T (n.*1157G>T) n.259G>T c.1108G>T (p.Glu370Ter) c.271G>T (p.Glu91Ter) c.919G>T (p.Glu307Ter) | |
| 15 | g.90766950A>C | CA393844848 | BLM | c.2234A>C (p.Glu745Ala) n.411A>C c.*1158A>C (n.*1158A>C) n.260A>C c.1109A>C (p.Glu370Ala) c.272A>C (p.Glu91Ala) c.920A>C (p.Glu307Ala) | |
| 15 | g.90766950A>G | CA393844849 | BLM | c.2234A>G (p.Glu745Gly) n.411A>G c.*1158A>G (n.*1158A>G) n.260A>G c.1109A>G (p.Glu370Gly) c.272A>G (p.Glu91Gly) c.920A>G (p.Glu307Gly) | ClinVar |
| 15 | g.90766950A>T | CA393844850 | BLM | c.2234A>T (p.Glu745Val) n.411A>T c.*1158A>T (n.*1158A>T) n.260A>T c.1109A>T (p.Glu370Val) c.272A>T (p.Glu91Val) c.920A>T (p.Glu307Val) | |
| 15 | g.90766951A= | CA2195283017 | BLM | c.2235A= (p.Glu745=) n.412A= c.*1159A= (n.*1159A=) n.261A= c.1110A= (p.Glu370=) c.273A= (p.Glu91=) c.921A= (p.Glu307=) | |
| 15 | g.90766951A>C | CA393844851 | BLM | c.2235A>C (p.Glu745Asp) n.412A>C c.*1159A>C (n.*1159A>C) n.261A>C c.1110A>C (p.Glu370Asp) c.273A>C (p.Glu91Asp) c.921A>C (p.Glu307Asp) | |
| 15 | g.90766951A>G | CA492159772 | BLM | c.2235A>G (p.Glu745=) n.412A>G c.*1159A>G (n.*1159A>G) n.261A>G c.1110A>G (p.Glu370=) c.273A>G (p.Glu91=) c.921A>G (p.Glu307=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90766951A>T | CA393844852 | BLM | c.2235A>T (p.Glu745Asp) n.412A>T c.*1159A>T (n.*1159A>T) n.261A>T c.1110A>T (p.Glu370Asp) c.273A>T (p.Glu91Asp) c.921A>T (p.Glu307Asp) | |
| 15 | g.90766952G>A | CA393844853 | BLM | c.2236G>A (p.Ala746Thr) n.413G>A c.*1160G>A (n.*1160G>A) n.262G>A c.1111G>A (p.Ala371Thr) c.274G>A (p.Ala92Thr) c.922G>A (p.Ala308Thr) | ClinVar dbSNP |
| 15 | g.90766952G>C | CA393844854 | BLM | c.2236G>C (p.Ala746Pro) n.413G>C c.*1160G>C (n.*1160G>C) n.262G>C c.1111G>C (p.Ala371Pro) c.274G>C (p.Ala92Pro) c.922G>C (p.Ala308Pro) | gnomAD v4 |
| 15 | g.90766952G= | CA2195283021 | BLM | c.2236G= (p.Ala746=) n.413G= c.*1160G= (n.*1160G=) n.262G= c.1111G= (p.Ala371=) c.274G= (p.Ala92=) c.922G= (p.Ala308=) | |
| 15 | g.90766952G>T | CA393844855 | BLM | c.2236G>T (p.Ala746Ser) n.413G>T c.*1160G>T (n.*1160G>T) n.262G>T c.1111G>T (p.Ala371Ser) c.274G>T (p.Ala92Ser) c.922G>T (p.Ala308Ser) | |
| 15 | g.90766953C>A | CA393844856 | BLM | c.2237C>A (p.Ala746Asp) n.414C>A c.*1161C>A (n.*1161C>A) n.263C>A c.1112C>A (p.Ala371Asp) c.275C>A (p.Ala92Asp) c.923C>A (p.Ala308Asp) | gnomAD v4 |
| 15 | g.90766953C= | CA2195283026 | BLM | c.2237C= (p.Ala746=) n.414C= c.*1161C= (n.*1161C=) n.263C= c.1112C= (p.Ala371=) c.275C= (p.Ala92=) c.923C= (p.Ala308=) | |
| 15 | g.90766953C>G | CA393844857 | BLM | c.2237C>G (p.Ala746Gly) n.414C>G c.*1161C>G (n.*1161C>G) n.263C>G c.1112C>G (p.Ala371Gly) c.275C>G (p.Ala92Gly) c.923C>G (p.Ala308Gly) | |
| 15 | g.90766953C>T | CA7738702 | BLM | c.2237C>T (p.Ala746Val) n.414C>T c.*1161C>T (n.*1161C>T) n.263C>T c.1112C>T (p.Ala371Val) c.275C>T (p.Ala92Val) c.923C>T (p.Ala308Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90766954T>A | CA492159779 | BLM | c.2238T>A (p.Ala746=) n.415T>A c.*1162T>A (n.*1162T>A) n.264T>A c.1113T>A (p.Ala371=) c.276T>A (p.Ala92=) c.924T>A (p.Ala308=) | |
| 15 | g.90766954T>C | CA492159781 | BLM | c.2238T>C (p.Ala746=) n.415T>C c.*1162T>C (n.*1162T>C) n.264T>C c.1113T>C (p.Ala371=) c.276T>C (p.Ala92=) c.924T>C (p.Ala308=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.90766954T>G | CA492159783 | BLM | c.2238T>G (p.Ala746=) n.415T>G c.*1162T>G (n.*1162T>G) n.264T>G c.1113T>G (p.Ala371=) c.276T>G (p.Ala92=) c.924T>G (p.Ala308=) | |
| 15 | g.90766954T= | CA2195283031 | BLM | c.2238T= (p.Ala746=) n.415T= c.*1162T= (n.*1162T=) n.264T= c.1113T= (p.Ala371=) c.276T= (p.Ala92=) c.924T= (p.Ala308=) | |
| 15 | g.90766955A>C | CA393844860 | BLM | c.2239A>C (p.Thr747Pro) n.416A>C c.*1163A>C (n.*1163A>C) n.265A>C c.1114A>C (p.Thr372Pro) c.277A>C (p.Thr93Pro) c.925A>C (p.Thr309Pro) | |
| 15 | g.90766955A>G | CA393844858 | BLM | c.2239A>G (p.Thr747Ala) n.416A>G c.*1163A>G (n.*1163A>G) n.265A>G c.1114A>G (p.Thr372Ala) c.277A>G (p.Thr93Ala) c.925A>G (p.Thr309Ala) | ClinVar gnomAD v4 |
| 15 | g.90766955A>T | CA393844859 | BLM | c.2239A>T (p.Thr747Ser) n.416A>T c.*1163A>T (n.*1163A>T) n.265A>T c.1114A>T (p.Thr372Ser) c.277A>T (p.Thr93Ser) c.925A>T (p.Thr309Ser) | |
| 15 | g.90766956C>A | CA393844861 | BLM | c.2240C>A (p.Thr747Lys) n.417C>A c.*1164C>A (n.*1164C>A) n.266C>A c.1115C>A (p.Thr372Lys) c.278C>A (p.Thr93Lys) c.926C>A (p.Thr309Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.90766956C= | CA2195283034 | BLM | c.2240C= (p.Thr747=) n.417C= c.*1164C= (n.*1164C=) n.266C= c.1115C= (p.Thr372=) c.278C= (p.Thr93=) c.926C= (p.Thr309=) | |
| 15 | g.90766956C>G | CA393844862 | BLM | c.2240C>G (p.Thr747Arg) n.417C>G c.*1164C>G (n.*1164C>G) n.266C>G c.1115C>G (p.Thr372Arg) c.278C>G (p.Thr93Arg) c.926C>G (p.Thr309Arg) | |
| 15 | g.90766956C>T | CA7738703 | BLM | c.2240C>T (p.Thr747Ile) n.417C>T c.*1164C>T (n.*1164C>T) n.266C>T c.1115C>T (p.Thr372Ile) c.278C>T (p.Thr93Ile) c.926C>T (p.Thr309Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.90766958_90766971del | CA2580090571 | BLM | c.2242_2255del (p.Asn748ValfsTer22) n.419_432del c.*1166_*1179del (n.*1166_*1179del) n.268_281del c.1117_1130del (p.Asn373ValfsTer22) c.280_293del (p.Asn94ValfsTer22) c.928_941del (p.Asn310ValfsTer22) | ClinVar |
| 15 | g.90766957A= | CA2195283036 | BLM | c.2241A= (p.Thr747=) n.418A= c.*1165A= (n.*1165A=) n.267A= c.1116A= (p.Thr372=) c.279A= (p.Thr93=) c.927A= (p.Thr309=) | |
| 15 | g.90766957A>C | CA492159791 | BLM | c.2241A>C (p.Thr747=) n.418A>C c.*1165A>C (n.*1165A>C) n.267A>C c.1116A>C (p.Thr372=) c.279A>C (p.Thr93=) c.927A>C (p.Thr309=) | |
| 15 | g.90766957A>G | CA16614959 | BLM | c.2241A>G (p.Thr747=) n.418A>G c.*1165A>G (n.*1165A>G) n.267A>G c.1116A>G (p.Thr372=) c.279A>G (p.Thr93=) c.927A>G (p.Thr309=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90766957A>T | CA492159790 | BLM | c.2241A>T (p.Thr747=) n.418A>T c.*1165A>T (n.*1165A>T) n.267A>T c.1116A>T (p.Thr372=) c.279A>T (p.Thr93=) c.927A>T (p.Thr309=) | |
| 15 | g.90766959del | CA2580090574 | BLM | c.2243del (p.Asn748IlefsTer13) n.420del c.*1167del (n.*1167del) n.269del c.1118del (p.Asn373IlefsTer13) c.281del (p.Asn94IlefsTer13) c.929del (p.Asn310IlefsTer13) | ClinVar |
| 15 | g.90766958A>C | CA393844863 | BLM | c.2242A>C (p.Asn748His) n.419A>C c.*1166A>C (n.*1166A>C) n.268A>C c.1117A>C (p.Asn373His) c.280A>C (p.Asn94His) c.928A>C (p.Asn310His) | |
| 15 | g.90766958A>G | CA393844864 | BLM | c.2242A>G (p.Asn748Asp) n.419A>G c.*1166A>G (n.*1166A>G) n.268A>G c.1117A>G (p.Asn373Asp) c.280A>G (p.Asn94Asp) c.928A>G (p.Asn310Asp) | |
| 15 | g.90766958A>T | CA393844865 | BLM | c.2242A>T (p.Asn748Tyr) n.419A>T c.*1166A>T (n.*1166A>T) n.268A>T c.1117A>T (p.Asn373Tyr) c.280A>T (p.Asn94Tyr) c.928A>T (p.Asn310Tyr) | |
| 15 | g.90766959A>C | CA393844866 | BLM | c.2243A>C (p.Asn748Thr) n.420A>C c.*1167A>C (n.*1167A>C) n.269A>C c.1118A>C (p.Asn373Thr) c.281A>C (p.Asn94Thr) c.929A>C (p.Asn310Thr) | |
| 15 | g.90766959A>G | CA393844867 | BLM | c.2243A>G (p.Asn748Ser) n.420A>G c.*1167A>G (n.*1167A>G) n.269A>G c.1118A>G (p.Asn373Ser) c.281A>G (p.Asn94Ser) c.929A>G (p.Asn310Ser) | ClinVar gnomAD v4 |
| 15 | g.90766959A>T | CA393844868 | BLM | c.2243A>T (p.Asn748Ile) n.420A>T c.*1167A>T (n.*1167A>T) n.269A>T c.1118A>T (p.Asn373Ile) c.281A>T (p.Asn94Ile) c.929A>T (p.Asn310Ile) | |
| 15 | g.90766960T>A | CA393844869 | BLM | c.2244T>A (p.Asn748Lys) n.421T>A c.*1168T>A (n.*1168T>A) n.270T>A c.1119T>A (p.Asn373Lys) c.282T>A (p.Asn94Lys) c.930T>A (p.Asn310Lys) | |
| 15 | g.90766960T>C | CA492159800 | BLM | c.2244T>C (p.Asn748=) n.421T>C c.*1168T>C (n.*1168T>C) n.270T>C c.1119T>C (p.Asn373=) c.282T>C (p.Asn94=) c.930T>C (p.Asn310=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90766960T>G | CA393844870 | BLM | c.2244T>G (p.Asn748Lys) n.421T>G c.*1168T>G (n.*1168T>G) n.270T>G c.1119T>G (p.Asn373Lys) c.282T>G (p.Asn94Lys) c.930T>G (p.Asn310Lys) | |
| 15 | g.90766960T= | CA2195283039 | BLM | c.2244T= (p.Asn748=) n.421T= c.*1168T= (n.*1168T=) n.270T= c.1119T= (p.Asn373=) c.282T= (p.Asn94=) c.930T= (p.Asn310=) | |
| 15 | g.90766961A= | CA2195283043 | BLM | c.2245A= (p.Ile749=) n.422A= c.*1169A= (n.*1169A=) n.271A= c.1120A= (p.Ile374=) c.283A= (p.Ile95=) c.931A= (p.Ile311=) | |
| 15 | g.90766961A>C | CA393844872 | BLM | c.2245A>C (p.Ile749Leu) n.422A>C c.*1169A>C (n.*1169A>C) n.271A>C c.1120A>C (p.Ile374Leu) c.283A>C (p.Ile95Leu) c.931A>C (p.Ile311Leu) | |
| 15 | g.90766961A>G | CA393844873 | BLM | c.2245A>G (p.Ile749Val) n.422A>G c.*1169A>G (n.*1169A>G) n.271A>G c.1120A>G (p.Ile374Val) c.283A>G (p.Ile95Val) c.931A>G (p.Ile311Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.90766961A>T | CA393844871 | BLM | c.2245A>T (p.Ile749Phe) n.422A>T c.*1169A>T (n.*1169A>T) n.271A>T c.1120A>T (p.Ile374Phe) c.283A>T (p.Ile95Phe) c.931A>T (p.Ile311Phe) | |
| 15 | g.90766962T>A | CA393844874 | BLM | c.2246T>A (p.Ile749Asn) n.423T>A c.*1170T>A (n.*1170T>A) n.272T>A c.1121T>A (p.Ile374Asn) c.284T>A (p.Ile95Asn) c.932T>A (p.Ile311Asn) | |
| 15 | g.90766962T>C | CA7738704 | BLM | c.2246T>C (p.Ile749Thr) n.423T>C c.*1170T>C (n.*1170T>C) n.272T>C c.1121T>C (p.Ile374Thr) c.284T>C (p.Ile95Thr) c.932T>C (p.Ile311Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.90766962T>G | CA393844875 | BLM | c.2246T>G (p.Ile749Ser) n.423T>G c.*1170T>G (n.*1170T>G) n.272T>G c.1121T>G (p.Ile374Ser) c.284T>G (p.Ile95Ser) c.932T>G (p.Ile311Ser) | |
| 15 | g.90766962T= | CA2195283045 | BLM | c.2246T= (p.Ile749=) n.423T= c.*1170T= (n.*1170T=) n.272T= c.1121T= (p.Ile374=) c.284T= (p.Ile95=) c.932T= (p.Ile311=) | |
| 15 | g.90766964del | CA2630380840 | BLM | c.2248del (p.Tyr750ThrfsTer11) n.425del c.*1172del (n.*1172del) n.274del c.1123del (p.Tyr375ThrfsTer11) c.286del (p.Tyr96ThrfsTer11) c.934del (p.Tyr312ThrfsTer11) | gnomAD v4 |
| 15 | g.90766963T>A | CA492159808 | BLM | c.2247T>A (p.Ile749=) n.424T>A c.*1171T>A (n.*1171T>A) n.273T>A c.1122T>A (p.Ile374=) c.285T>A (p.Ile95=) c.933T>A (p.Ile311=) | |
| 15 | g.90766963T>C | CA492159810 | BLM | c.2247T>C (p.Ile749=) n.424T>C c.*1171T>C (n.*1171T>C) n.273T>C c.1122T>C (p.Ile374=) c.285T>C (p.Ile95=) c.933T>C (p.Ile311=) | |
| 15 | g.90766963T>G | CA393844876 | BLM | c.2247T>G (p.Ile749Met) n.424T>G c.*1171T>G (n.*1171T>G) n.273T>G c.1122T>G (p.Ile374Met) c.285T>G (p.Ile95Met) c.933T>G (p.Ile311Met) | |
| 15 | g.90766964T>A | CA393844877 | BLM | c.2248T>A (p.Tyr750Asn) n.425T>A c.*1172T>A (n.*1172T>A) n.274T>A c.1123T>A (p.Tyr375Asn) c.286T>A (p.Tyr96Asn) c.934T>A (p.Tyr312Asn) | |
| 15 | g.90766964T>C | CA393844878 | BLM | c.2248T>C (p.Tyr750His) n.425T>C c.*1172T>C (n.*1172T>C) n.274T>C c.1123T>C (p.Tyr375His) c.286T>C (p.Tyr96His) c.934T>C (p.Tyr312His) | |
| 15 | g.90766964T>G | CA393844879 | BLM | c.2248T>G (p.Tyr750Asp) n.425T>G c.*1172T>G (n.*1172T>G) n.274T>G c.1123T>G (p.Tyr375Asp) c.286T>G (p.Tyr96Asp) c.934T>G (p.Tyr312Asp) | |
| 15 | g.90766965A= | CA2195283048 | BLM | c.2249A= (p.Tyr750=) n.426A= c.*1173A= (n.*1173A=) n.275A= c.1124A= (p.Tyr375=) c.287A= (p.Tyr96=) c.935A= (p.Tyr312=) | |
| 15 | g.90766965A>C | CA393844880 | BLM | c.2249A>C (p.Tyr750Ser) n.426A>C c.*1173A>C (n.*1173A>C) n.275A>C c.1124A>C (p.Tyr375Ser) c.287A>C (p.Tyr96Ser) c.935A>C (p.Tyr312Ser) | |
| 15 | g.90766965A>G | CA393844881 | BLM | c.2249A>G (p.Tyr750Cys) n.426A>G c.*1173A>G (n.*1173A>G) n.275A>G c.1124A>G (p.Tyr375Cys) c.287A>G (p.Tyr96Cys) c.935A>G (p.Tyr312Cys) | dbSNP |
| 15 | g.90766965A>T | CA393844882 | BLM | c.2249A>T (p.Tyr750Phe) n.426A>T c.*1173A>T (n.*1173A>T) n.275A>T c.1124A>T (p.Tyr375Phe) c.287A>T (p.Tyr96Phe) c.935A>T (p.Tyr312Phe) | |
| 15 | g.90766966C>A | CA393844883 | BLM | c.2250C>A (p.Tyr750Ter) n.427C>A c.*1174C>A (n.*1174C>A) n.276C>A c.1125C>A (p.Tyr375Ter) c.288C>A (p.Tyr96Ter) c.936C>A (p.Tyr312Ter) | |
| 15 | g.90766966C= | CA2195283050 | BLM | c.2250C= (p.Tyr750=) n.427C= c.*1174C= (n.*1174C=) n.276C= c.1125C= (p.Tyr375=) c.288C= (p.Tyr96=) c.936C= (p.Tyr312=) | |
| 15 | g.90766966C>G | CA393844884 | BLM | c.2250C>G (p.Tyr750Ter) n.427C>G c.*1174C>G (n.*1174C>G) n.276C>G c.1125C>G (p.Tyr375Ter) c.288C>G (p.Tyr96Ter) c.936C>G (p.Tyr312Ter) | |
| 15 | g.90766966C>T | CA492159819 | BLM | c.2250C>T (p.Tyr750=) n.427C>T c.*1174C>T (n.*1174C>T) n.276C>T c.1125C>T (p.Tyr375=) c.288C>T (p.Tyr96=) c.936C>T (p.Tyr312=) | |
| 15 | g.90766966_90766967insAAAT | CA273962 | BLM | c.2250_2251insAAAT (p.Leu751LysfsTer25) n.427_428insAAAT c.*1174_*1175insAAAT (n.*1174_*1175insAAAT) n.276_277insAAAT c.1125_1126insAAAT (p.Leu376LysfsTer25) c.288_289insAAAT (p.Leu97LysfsTer25) c.936_937insAAAT (p.Leu313LysfsTer25) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.90766967C>A | CA393844887 | BLM | c.2251C>A (p.Leu751Ile) n.428C>A c.*1175C>A (n.*1175C>A) n.277C>A c.1126C>A (p.Leu376Ile) c.289C>A (p.Leu97Ile) c.937C>A (p.Leu313Ile) | |
| 15 | g.90766967C= | CA2195283056 | BLM | c.2251C= (p.Leu751=) n.428C= c.*1175C= (n.*1175C=) n.277C= c.1126C= (p.Leu376=) c.289C= (p.Leu97=) c.937C= (p.Leu313=) | |
| 15 | g.90766967C>G | CA393844885 | BLM | c.2251C>G (p.Leu751Val) n.428C>G c.*1175C>G (n.*1175C>G) n.277C>G c.1126C>G (p.Leu376Val) c.289C>G (p.Leu97Val) c.937C>G (p.Leu313Val) | |
| 15 | g.90766967C>T | CA393844886 | BLM | c.2251C>T (p.Leu751Phe) n.428C>T c.*1175C>T (n.*1175C>T) n.277C>T c.1126C>T (p.Leu376Phe) c.289C>T (p.Leu97Phe) c.937C>T (p.Leu313Phe) | ClinVar dbSNP |
| 15 | g.90766968T>A | CA393844888 | BLM | c.2252T>A (p.Leu751His) n.429T>A c.*1176T>A (n.*1176T>A) n.278T>A c.1127T>A (p.Leu376His) c.290T>A (p.Leu97His) c.938T>A (p.Leu313His) | gnomAD v4 |
| 15 | g.90766968T>C | CA393844889 | BLM | c.2252T>C (p.Leu751Pro) n.429T>C c.*1176T>C (n.*1176T>C) n.278T>C c.1127T>C (p.Leu376Pro) c.290T>C (p.Leu97Pro) c.938T>C (p.Leu313Pro) | gnomAD v4 |
| 15 | g.90766968T>G | CA393844890 | BLM | c.2252T>G (p.Leu751Arg) n.429T>G c.*1176T>G (n.*1176T>G) n.278T>G c.1127T>G (p.Leu376Arg) c.290T>G (p.Leu97Arg) c.938T>G (p.Leu313Arg) | |
| 15 | g.90766969C>A | CA492159830 | BLM | c.2253C>A (p.Leu751=) n.430C>A c.*1177C>A (n.*1177C>A) n.279C>A c.1128C>A (p.Leu376=) c.291C>A (p.Leu97=) c.939C>A (p.Leu313=) | ClinVar dbSNP |
| 15 | g.90766969C>G | CA492159831 | BLM | c.2253C>G (p.Leu751=) n.430C>G c.*1177C>G (n.*1177C>G) n.279C>G c.1128C>G (p.Leu376=) c.291C>G (p.Leu97=) c.939C>G (p.Leu313=) | ClinVar dbSNP |
| 15 | g.90766969C>T | CA492159828 | BLM | c.2253C>T (p.Leu751=) n.430C>T c.*1177C>T (n.*1177C>T) n.279C>T c.1128C>T (p.Leu376=) c.291C>T (p.Leu97=) c.939C>T (p.Leu313=) | gnomAD v4 |
| 15 | g.90766969_90766971delinsCCA | CA2195283060 | BLM | c.2253_2255delinsCCA (p.Leu751=) n.430_432delinsCCA c.*1177_*1179delinsCCA (n.*1177_*1179delinsCCA) n.279_281delinsCCA c.1128_1130delinsCCA (p.Leu376=) c.291_293delinsCCA (p.Leu97=) c.939_941delinsCCA (p.Leu313=) | |
| 15 | g.90766970C>A | CA393844891 | BLM | c.2254C>A (p.Gln752Lys) n.431C>A c.*1178C>A (n.*1178C>A) n.280C>A c.1129C>A (p.Gln377Lys) c.292C>A (p.Gln98Lys) c.940C>A (p.Gln314Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.90766970C= | CA2195283063 | BLM | c.2254C= (p.Gln752=) n.431C= c.*1178C= (n.*1178C=) n.280C= c.1129C= (p.Gln377=) c.292C= (p.Gln98=) c.940C= (p.Gln314=) | |
| 15 | g.90766970C>G | CA393844892 | BLM | c.2254C>G (p.Gln752Glu) n.431C>G c.*1178C>G (n.*1178C>G) n.280C>G c.1129C>G (p.Gln377Glu) c.292C>G (p.Gln98Glu) c.940C>G (p.Gln314Glu) | |
| 15 | g.90766970C>T | CA393844893 | BLM | c.2254C>T (p.Gln752Ter) n.431C>T c.*1178C>T (n.*1178C>T) n.280C>T c.1129C>T (p.Gln377Ter) c.292C>T (p.Gln98Ter) c.940C>T (p.Gln314Ter) | |
| 15 | g.90766970_90766971del | CA619578531 | BLM | c.2254_2255del (p.Gln752ValfsTer22) n.431_432del c.*1178_*1179del (n.*1178_*1179del) n.280_281del c.1129_1130del (p.Gln377ValfsTer22) c.292_293del (p.Gln98ValfsTer22) c.940_941del (p.Gln314ValfsTer22) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.90766971A>C | CA393844894 | BLM | c.2255A>C (p.Gln752Pro) n.432A>C c.*1179A>C (n.*1179A>C) n.281A>C c.1130A>C (p.Gln377Pro) c.293A>C (p.Gln98Pro) c.941A>C (p.Gln314Pro) | |
| 15 | g.90766971A>G | CA393844896 | BLM | c.2255A>G (p.Gln752Arg) n.432A>G c.*1179A>G (n.*1179A>G) n.281A>G c.1130A>G (p.Gln377Arg) c.293A>G (p.Gln98Arg) c.941A>G (p.Gln314Arg) | |
| 15 | g.90766971A>T | CA393844895 | BLM | c.2255A>T (p.Gln752Leu) n.432A>T c.*1179A>T (n.*1179A>T) n.281A>T c.1130A>T (p.Gln377Leu) c.293A>T (p.Gln98Leu) c.941A>T (p.Gln314Leu) | |
| 15 | g.90766971_90766972insCAAC | CA645576459 | BLM | c.2255_2256insCAAC (p.Gln752HisfsTer24) n.432_433insCAAC c.*1179_*1180insCAAC (n.*1179_*1180insCAAC) n.281_282insCAAC c.1130_1131insCAAC (p.Gln377HisfsTer24) c.293_294insCAAC (p.Gln98HisfsTer24) c.941_942insCAAC (p.Gln314HisfsTer24) | COSMIC |
| 15 | g.90766972G>A | CA492159837 | BLM | c.2256G>A (p.Gln752=) n.433G>A c.*1180G>A (n.*1180G>A) n.282G>A c.1131G>A (p.Gln377=) c.294G>A (p.Gln98=) c.942G>A (p.Gln314=) | ClinVar |
| 15 | g.90766972G>C | CA274741724 | BLM | c.2256G>C (p.Gln752His) n.433G>C c.*1180G>C (n.*1180G>C) n.282G>C c.1131G>C (p.Gln377His) c.294G>C (p.Gln98His) c.942G>C (p.Gln314His) | dbSNP |
| 15 | g.90766972G= | CA2195283065 | BLM | c.2256G= (p.Gln752=) n.433G= c.*1180G= (n.*1180G=) n.282G= c.1131G= (p.Gln377=) c.294G= (p.Gln98=) c.942G= (p.Gln314=) | |
| 15 | g.90766972G>T | CA393844897 | BLM | c.2256G>T (p.Gln752His) n.433G>T c.*1180G>T (n.*1180G>T) n.282G>T c.1131G>T (p.Gln377His) c.294G>T (p.Gln98His) c.942G>T (p.Gln314His) | |
| 15 | g.90766973T>A | CA393844898 | BLM | c.2257T>A (p.Leu753Ile) n.434T>A c.*1181T>A (n.*1181T>A) n.283T>A c.1132T>A (p.Leu378Ile) c.295T>A (p.Leu99Ile) c.943T>A (p.Leu315Ile) | |
| 15 | g.90766973T>C | CA492159842 | BLM | c.2257T>C (p.Leu753=) n.434T>C c.*1181T>C (n.*1181T>C) n.283T>C c.1132T>C (p.Leu378=) c.295T>C (p.Leu99=) c.943T>C (p.Leu315=) | |
| 15 | g.90766973T>G | CA393844899 | BLM | c.2257T>G (p.Leu753Val) n.434T>G c.*1181T>G (n.*1181T>G) n.283T>G c.1132T>G (p.Leu378Val) c.295T>G (p.Leu99Val) c.943T>G (p.Leu315Val) | |
| 15 | g.90766973_90766976del | CA645576460 | BLM | c.2257_2260del (p.Leu753GlnfsTer7) n.434_437del c.*1181_*1184del (n.*1181_*1184del) n.283_286del c.1132_1135del (p.Leu378GlnfsTer7) c.295_298del (p.Leu99GlnfsTer7) c.943_946del (p.Leu315GlnfsTer7) | COSMIC |
| 15 | g.90766974T>A | CA393844900 | BLM | c.2258T>A (p.Leu753Ter) n.435T>A c.*1182T>A (n.*1182T>A) n.284T>A c.1133T>A (p.Leu378Ter) c.296T>A (p.Leu99Ter) c.944T>A (p.Leu315Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.90766974T>C | CA393844902 | BLM | c.2258T>C (p.Leu753Ser) n.435T>C c.*1182T>C (n.*1182T>C) n.284T>C c.1133T>C (p.Leu378Ser) c.296T>C (p.Leu99Ser) c.944T>C (p.Leu315Ser) | gnomAD v4 |
| 15 | g.90766974T>G | CA393844901 | BLM | c.2258T>G (p.Leu753Ter) n.435T>G c.*1182T>G (n.*1182T>G) n.284T>G c.1133T>G (p.Leu378Ter) c.296T>G (p.Leu99Ter) c.944T>G (p.Leu315Ter) | |
| 15 | g.90766974T= | CA2195283068 | BLM | c.2258T= (p.Leu753=) n.435T= c.*1182T= (n.*1182T=) n.284T= c.1133T= (p.Leu378=) c.296T= (p.Leu99=) c.944T= (p.Leu315=) | |
| 15 | g.90766975A= | CA2195283071 | BLM | c.2259A= (p.Leu753=) n.436A= c.*1183A= (n.*1183A=) n.285A= c.1134A= (p.Leu378=) c.297A= (p.Leu99=) c.945A= (p.Leu315=) | |
| 15 | g.90766975A>C | CA393844903 | BLM | c.2259A>C (p.Leu753Phe) n.436A>C c.*1183A>C (n.*1183A>C) n.285A>C c.1134A>C (p.Leu378Phe) c.297A>C (p.Leu99Phe) c.945A>C (p.Leu315Phe) | dbSNP |
| 15 | g.90766975A>G | CA492159844 | BLM | c.2259A>G (p.Leu753=) n.436A>G c.*1183A>G (n.*1183A>G) n.285A>G c.1134A>G (p.Leu378=) c.297A>G (p.Leu99=) c.945A>G (p.Leu315=) | ClinVar |
| 15 | g.90766975A>T | CA393844904 | BLM | c.2259A>T (p.Leu753Phe) n.436A>T c.*1183A>T (n.*1183A>T) n.285A>T c.1134A>T (p.Leu378Phe) c.297A>T (p.Leu99Phe) c.945A>T (p.Leu315Phe) | |
| 15 | g.90766976T>A | CA393844905 | BLM | c.2260T>A (p.Ser754Thr) n.437T>A c.*1184T>A (n.*1184T>A) n.286T>A c.1135T>A (p.Ser379Thr) c.298T>A (p.Ser100Thr) c.946T>A (p.Ser316Thr) | |
| 15 | g.90766976T>C | CA393844906 | BLM | c.2260T>C (p.Ser754Pro) n.437T>C c.*1184T>C (n.*1184T>C) n.286T>C c.1135T>C (p.Ser379Pro) c.298T>C (p.Ser100Pro) c.946T>C (p.Ser316Pro) | ClinVar dbSNP |
| 15 | g.90766976T>G | CA393844907 | BLM | c.2260T>G (p.Ser754Ala) n.437T>G c.*1184T>G (n.*1184T>G) n.286T>G c.1135T>G (p.Ser379Ala) c.298T>G (p.Ser100Ala) c.946T>G (p.Ser316Ala) | |
| 15 | g.90766977C>A | CA393844908 | BLM | c.2261C>A (p.Ser754Ter) n.438C>A c.*1185C>A (n.*1185C>A) n.287C>A c.1136C>A (p.Ser379Ter) c.299C>A (p.Ser100Ter) c.947C>A (p.Ser316Ter) | gnomAD v4 |
| 15 | g.90766977C>G | CA393844909 | BLM | c.2261C>G (p.Ser754Ter) n.438C>G c.*1185C>G (n.*1185C>G) n.287C>G c.1136C>G (p.Ser379Ter) c.299C>G (p.Ser100Ter) c.947C>G (p.Ser316Ter) | ClinVar |
| 15 | g.90766977C>T | CA393844910 | BLM | c.2261C>T (p.Ser754Leu) n.438C>T c.*1185C>T (n.*1185C>T) n.287C>T c.1136C>T (p.Ser379Leu) c.299C>T (p.Ser100Leu) c.947C>T (p.Ser316Leu) | |
| 15 | g.90766977_90766978delinsCA | CA2195283073 | BLM | c.2261_2262delinsCA (p.Ser754=) n.438_439delinsCA c.*1185_*1186delinsCA (n.*1185_*1186delinsCA) n.287_288delinsCA c.1136_1137delinsCA (p.Ser379=) c.299_300delinsCA (p.Ser100=) c.947_948delinsCA (p.Ser316=) | |
| 15 | g.90766978A>C | CA492159855 | BLM | c.2262A>C (p.Ser754=) n.439A>C c.*1186A>C (n.*1186A>C) n.288A>C c.1137A>C (p.Ser379=) c.300A>C (p.Ser100=) c.948A>C (p.Ser316=) | |
| 15 | g.90766978A>G | CA492159857 | BLM | c.2262A>G (p.Ser754=) n.439A>G c.*1186A>G (n.*1186A>G) n.288A>G c.1137A>G (p.Ser379=) c.300A>G (p.Ser100=) c.948A>G (p.Ser316=) | gnomAD v4 |
| 15 | g.90766978A>T | CA492159854 | BLM | c.2262A>T (p.Ser754=) n.439A>T c.*1186A>T (n.*1186A>T) n.288A>T c.1137A>T (p.Ser379=) c.300A>T (p.Ser100=) c.948A>T (p.Ser316=) | |
| 15 | g.90766984dup | CA619578532 | BLM | c.2268dup (p.Asp757ArgfsTer18) n.445dup c.*1192dup (n.*1192dup) n.294dup c.1143dup (p.Asp382ArgfsTer18) c.306dup (p.Asp103ArgfsTer18) c.954dup (p.Asp319ArgfsTer18) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.90766981_90766984dup | CA2195283079 | BLM | c.2265_2268dup (p.Asp757LysfsTer19) n.442_445dup c.*1189_*1192dup (n.*1189_*1192dup) n.291_294dup c.1140_1143dup (p.Asp382LysfsTer19) c.303_306dup (p.Asp103LysfsTer19) c.951_954dup (p.Asp319LysfsTer19) | dbSNP |
| 15 | g.[90766981_90766984dup;90769472T>A] | CA2499306177 | BLM | c.[2265_2268dup;2441T>A] (p.Asp757LysfsTer19) c.[*1189_*1192dup;*1365T>A] (n.[*1189_*1192dup;*1365T>A]) n.[291_294dup;467T>A] c.[1140_1143dup;1316T>A] (p.Asp382LysfsTer19) c.[303_306dup;479T>A] (p.Asp103LysfsTer19) c.[951_954dup;1127T>A] (p.Asp319LysfsTer19) | ClinVar |
| 15 | g.90766984del | CA7738705 | BLM | c.2268del (p.Asp757ThrfsTer4) n.445del c.*1192del (n.*1192del) n.294del c.1143del (p.Asp382ThrfsTer4) c.306del (p.Asp103ThrfsTer4) c.954del (p.Asp319ThrfsTer4) | ClinVar dbSNP ExAC gnomAD v4 COSMIC |
| 15 | g.90766979A= | CA2195283094 | BLM | c.2263A= (p.Lys755=) n.440A= c.*1187A= (n.*1187A=) n.289A= c.1138A= (p.Lys380=) c.301A= (p.Lys101=) c.949A= (p.Lys317=) | |
| 15 | g.90766979A>C | CA393844911 | BLM | c.2263A>C (p.Lys755Gln) n.440A>C c.*1187A>C (n.*1187A>C) n.289A>C c.1138A>C (p.Lys380Gln) c.301A>C (p.Lys101Gln) c.949A>C (p.Lys317Gln) | |
| 15 | g.90766979A>G | CA157379 | BLM | c.2263A>G (p.Lys755Glu) n.440A>G c.*1187A>G (n.*1187A>G) n.289A>G c.1138A>G (p.Lys380Glu) c.301A>G (p.Lys101Glu) c.949A>G (p.Lys317Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90766979A>T | CA393844912 | BLM | c.2263A>T (p.Lys755Ter) n.440A>T c.*1187A>T (n.*1187A>T) n.289A>T c.1138A>T (p.Lys380Ter) c.301A>T (p.Lys101Ter) c.949A>T (p.Lys317Ter) | |
| 15 | g.90766980A>C | CA393844915 | BLM | c.2264A>C (p.Lys755Thr) n.441A>C c.*1188A>C (n.*1188A>C) n.290A>C c.1139A>C (p.Lys380Thr) c.302A>C (p.Lys101Thr) c.950A>C (p.Lys317Thr) | |
| 15 | g.90766980A>G | CA393844913 | BLM | c.2264A>G (p.Lys755Arg) n.441A>G c.*1188A>G (n.*1188A>G) n.290A>G c.1139A>G (p.Lys380Arg) c.302A>G (p.Lys101Arg) c.950A>G (p.Lys317Arg) | |
| 15 | g.90766980A>T | CA393844914 | BLM | c.2264A>T (p.Lys755Ile) n.441A>T c.*1188A>T (n.*1188A>T) n.290A>T c.1139A>T (p.Lys380Ile) c.302A>T (p.Lys101Ile) c.950A>T (p.Lys317Ile) | |
| 15 | g.90766981A= | CA2195283099 | BLM | c.2265A= (p.Lys755=) n.442A= c.*1189A= (n.*1189A=) n.291A= c.1140A= (p.Lys380=) c.303A= (p.Lys101=) c.951A= (p.Lys317=) | |
| 15 | g.90766981A>C | CA393844916 | BLM | c.2265A>C (p.Lys755Asn) n.442A>C c.*1189A>C (n.*1189A>C) n.291A>C c.1140A>C (p.Lys380Asn) c.303A>C (p.Lys101Asn) c.951A>C (p.Lys317Asn) | |
| 15 | g.90766981A>G | CA7738706 | BLM | c.2265A>G (p.Lys755=) n.442A>G c.*1189A>G (n.*1189A>G) n.291A>G c.1140A>G (p.Lys380=) c.303A>G (p.Lys101=) c.951A>G (p.Lys317=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.90766981A>T | CA393844917 | BLM | c.2265A>T (p.Lys755Asn) n.442A>T c.*1189A>T (n.*1189A>T) n.291A>T c.1140A>T (p.Lys380Asn) c.303A>T (p.Lys101Asn) c.951A>T (p.Lys317Asn) | |
| 15 | g.90766982A>C | CA393844918 | BLM | c.2266A>C (p.Lys756Gln) n.443A>C c.*1190A>C (n.*1190A>C) n.292A>C c.1141A>C (p.Lys381Gln) c.304A>C (p.Lys102Gln) c.952A>C (p.Lys318Gln) | |
| 15 | g.90766982A>G | CA393844919 | BLM | c.2266A>G (p.Lys756Glu) n.443A>G c.*1190A>G (n.*1190A>G) n.292A>G c.1141A>G (p.Lys381Glu) c.304A>G (p.Lys102Glu) c.952A>G (p.Lys318Glu) | |
| 15 | g.90766982A>T | CA393844920 | BLM | c.2266A>T (p.Lys756Ter) n.443A>T c.*1190A>T (n.*1190A>T) n.292A>T c.1141A>T (p.Lys381Ter) c.304A>T (p.Lys102Ter) c.952A>T (p.Lys318Ter) | |
| 15 | g.90766983A= | CA2195283101 | BLM | c.2267A= (p.Lys756=) n.444A= c.*1191A= (n.*1191A=) n.293A= c.1142A= (p.Lys381=) c.305A= (p.Lys102=) c.953A= (p.Lys318=) | |
| 15 | g.90766983A>C | CA393844921 | BLM | c.2267A>C (p.Lys756Thr) n.444A>C c.*1191A>C (n.*1191A>C) n.293A>C c.1142A>C (p.Lys381Thr) c.305A>C (p.Lys102Thr) c.953A>C (p.Lys318Thr) | |
| 15 | g.90766983A>G | CA7738707 | BLM | c.2267A>G (p.Lys756Arg) n.444A>G c.*1191A>G (n.*1191A>G) n.293A>G c.1142A>G (p.Lys381Arg) c.305A>G (p.Lys102Arg) c.953A>G (p.Lys318Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.90766983A>T | CA393844922 | BLM | c.2267A>T (p.Lys756Ile) n.444A>T c.*1191A>T (n.*1191A>T) n.293A>T c.1142A>T (p.Lys381Ile) c.305A>T (p.Lys102Ile) c.953A>T (p.Lys318Ile) | |
| 15 | g.90766984A= | CA2195283106 | BLM | c.2268A= (p.Lys756=) n.445A= c.*1192A= (n.*1192A=) n.294A= c.1143A= (p.Lys381=) c.306A= (p.Lys102=) c.954A= (p.Lys318=) | |
| 15 | g.90766984A>C | CA393844923 | BLM | c.2268A>C (p.Lys756Asn) n.445A>C c.*1192A>C (n.*1192A>C) n.294A>C c.1143A>C (p.Lys381Asn) c.306A>C (p.Lys102Asn) c.954A>C (p.Lys318Asn) | dbSNP |
| 15 | g.90766984A>G | CA289699 | BLM | c.2268A>G (p.Lys756=) n.445A>G c.*1192A>G (n.*1192A>G) n.294A>G c.1143A>G (p.Lys381=) c.306A>G (p.Lys102=) c.954A>G (p.Lys318=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90766984A>T | CA393844924 | BLM | c.2268A>T (p.Lys756Asn) n.445A>T c.*1192A>T (n.*1192A>T) n.294A>T c.1143A>T (p.Lys381Asn) c.306A>T (p.Lys102Asn) c.954A>T (p.Lys318Asn) | |
| 15 | g.90766985G>A | CA393844926 | BLM | c.2269G>A (p.Asp757Asn) n.446G>A c.*1193G>A (n.*1193G>A) n.295G>A c.1144G>A (p.Asp382Asn) c.307G>A (p.Asp103Asn) c.955G>A (p.Asp319Asn) | |
| 15 | g.90766985G>C | CA393844927 | BLM | c.2269G>C (p.Asp757His) n.446G>C c.*1193G>C (n.*1193G>C) n.295G>C c.1144G>C (p.Asp382His) c.307G>C (p.Asp103His) c.955G>C (p.Asp319His) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90766985G>T | CA393844925 | BLM | c.2269G>T (p.Asp757Tyr) n.446G>T c.*1193G>T (n.*1193G>T) n.295G>T c.1144G>T (p.Asp382Tyr) c.307G>T (p.Asp103Tyr) c.955G>T (p.Asp319Tyr) | |
| 15 | g.90766986A>C | CA393844929 | BLM | c.2270A>C (p.Asp757Ala) n.447A>C c.*1194A>C (n.*1194A>C) n.296A>C c.1145A>C (p.Asp382Ala) c.308A>C (p.Asp103Ala) c.956A>C (p.Asp319Ala) | |
| 15 | g.90766986A>G | CA393844928 | BLM | c.2270A>G (p.Asp757Gly) n.447A>G c.*1194A>G (n.*1194A>G) n.296A>G c.1145A>G (p.Asp382Gly) c.308A>G (p.Asp103Gly) c.956A>G (p.Asp319Gly) | COSMIC |
| 15 | g.90766986A>T | CA393844930 | BLM | c.2270A>T (p.Asp757Val) n.447A>T c.*1194A>T (n.*1194A>T) n.296A>T c.1145A>T (p.Asp382Val) c.308A>T (p.Asp103Val) c.956A>T (p.Asp319Val) | |
| 15 | g.90766987C>A | CA393844931 | BLM | c.2271C>A (p.Asp757Glu) n.448C>A c.*1195C>A (n.*1195C>A) n.297C>A c.1146C>A (p.Asp382Glu) c.309C>A (p.Asp103Glu) c.957C>A (p.Asp319Glu) | ClinVar gnomAD v4 |
| 15 | g.90766987C= | CA2195283112 | BLM | c.2271C= (p.Asp757=) n.448C= c.*1195C= (n.*1195C=) n.297C= c.1146C= (p.Asp382=) c.309C= (p.Asp103=) c.957C= (p.Asp319=) | |
| 15 | g.90766987C>G | CA7738708 | BLM | c.2271C>G (p.Asp757Glu) n.448C>G c.*1195C>G (n.*1195C>G) n.297C>G c.1146C>G (p.Asp382Glu) c.309C>G (p.Asp103Glu) c.957C>G (p.Asp319Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90766987C>T | CA492159881 | BLM | c.2271C>T (p.Asp757=) n.448C>T c.*1195C>T (n.*1195C>T) n.297C>T c.1146C>T (p.Asp382=) c.309C>T (p.Asp103=) c.957C>T (p.Asp319=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.90766988C>A | CA393844932 | BLM | c.2272C>A (p.Pro758Thr) n.449C>A c.*1196C>A (n.*1196C>A) n.298C>A c.1147C>A (p.Pro383Thr) c.310C>A (p.Pro104Thr) c.958C>A (p.Pro320Thr) | dbSNP gnomAD v4 |
| 15 | g.90766988C>G | CA393844933 | BLM | c.2272C>G (p.Pro758Ala) n.449C>G c.*1196C>G (n.*1196C>G) n.298C>G c.1147C>G (p.Pro383Ala) c.310C>G (p.Pro104Ala) c.958C>G (p.Pro320Ala) | dbSNP |
| 15 | g.90766988C>T | CA393844934 | BLM | c.2272C>T (p.Pro758Ser) n.449C>T c.*1196C>T (n.*1196C>T) n.298C>T c.1147C>T (p.Pro383Ser) c.310C>T (p.Pro104Ser) c.958C>T (p.Pro320Ser) | gnomAD v4 |
| 15 | g.90766989C>A | CA393844935 | BLM | c.2273C>A (p.Pro758Gln) n.450C>A c.*1197C>A (n.*1197C>A) n.299C>A c.1148C>A (p.Pro383Gln) c.311C>A (p.Pro104Gln) c.959C>A (p.Pro320Gln) | gnomAD v4 |
| 15 | g.90766989C>G | CA393844936 | BLM | c.2273C>G (p.Pro758Arg) n.450C>G c.*1197C>G (n.*1197C>G) n.299C>G c.1148C>G (p.Pro383Arg) c.311C>G (p.Pro104Arg) c.959C>G (p.Pro320Arg) | |
| 15 | g.90766989C>T | CA393844937 | BLM | c.2273C>T (p.Pro758Leu) n.450C>T c.*1197C>T (n.*1197C>T) n.299C>T c.1148C>T (p.Pro383Leu) c.311C>T (p.Pro104Leu) c.959C>T (p.Pro320Leu) | ClinVar dbSNP |
| 15 | g.90766990A>C | CA492159889 | BLM | c.2274A>C (p.Pro758=) n.451A>C c.*1198A>C (n.*1198A>C) n.300A>C c.1149A>C (p.Pro383=) c.312A>C (p.Pro104=) c.960A>C (p.Pro320=) | |
| 15 | g.90766990A>G | CA492159891 | BLM | c.2274A>G (p.Pro758=) n.451A>G c.*1198A>G (n.*1198A>G) n.300A>G c.1149A>G (p.Pro383=) c.312A>G (p.Pro104=) c.960A>G (p.Pro320=) | |
| 15 | g.90766990A>T | CA492159892 | BLM | c.2274A>T (p.Pro758=) n.451A>T c.*1198A>T (n.*1198A>T) n.300A>T c.1149A>T (p.Pro383=) c.312A>T (p.Pro104=) c.960A>T (p.Pro320=) | |
| 15 | g.90766991A= | CA2195283119 | BLM | c.2275A= (p.Ile759=) n.452A= c.*1199A= (n.*1199A=) n.301A= c.1150A= (p.Ile384=) c.313A= (p.Ile105=) c.961A= (p.Ile321=) | |
| 15 | g.90766991A>C | CA393844938 | BLM | c.2275A>C (p.Ile759Leu) n.452A>C c.*1199A>C (n.*1199A>C) n.301A>C c.1150A>C (p.Ile384Leu) c.313A>C (p.Ile105Leu) c.961A>C (p.Ile321Leu) | |
| 15 | g.90766991A>G | CA393844939 | BLM | c.2275A>G (p.Ile759Val) n.452A>G c.*1199A>G (n.*1199A>G) n.301A>G c.1150A>G (p.Ile384Val) c.313A>G (p.Ile105Val) c.961A>G (p.Ile321Val) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90766991A>T | CA393844940 | BLM | c.2275A>T (p.Ile759Phe) n.452A>T c.*1199A>T (n.*1199A>T) n.301A>T c.1150A>T (p.Ile384Phe) c.313A>T (p.Ile105Phe) c.961A>T (p.Ile321Phe) | |
| 15 | g.90766992T>A | CA393844942 | BLM | c.2276T>A (p.Ile759Asn) n.453T>A c.*1200T>A (n.*1200T>A) n.302T>A c.1151T>A (p.Ile384Asn) c.314T>A (p.Ile105Asn) c.962T>A (p.Ile321Asn) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90766992T>C | CA274741742 | BLM | c.2276T>C (p.Ile759Thr) n.453T>C c.*1200T>C (n.*1200T>C) n.302T>C c.1151T>C (p.Ile384Thr) c.314T>C (p.Ile105Thr) c.962T>C (p.Ile321Thr) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90766992T>G | CA393844941 | BLM | c.2276T>G (p.Ile759Ser) n.453T>G c.*1200T>G (n.*1200T>G) n.302T>G c.1151T>G (p.Ile384Ser) c.314T>G (p.Ile105Ser) c.962T>G (p.Ile321Ser) | |
| 15 | g.90766992T= | CA2195283126 | BLM | c.2276T= (p.Ile759=) n.453T= c.*1200T= (n.*1200T=) n.302T= c.1151T= (p.Ile384=) c.314T= (p.Ile105=) c.962T= (p.Ile321=) | |
| 15 | g.90766993C>A | CA492159900 | BLM | c.2277C>A (p.Ile759=) n.454C>A c.*1201C>A (n.*1201C>A) n.303C>A c.1152C>A (p.Ile384=) c.315C>A (p.Ile105=) c.963C>A (p.Ile321=) | ClinVar gnomAD v4 |
| 15 | g.90766993C= | CA2195283132 | BLM | c.2277C= (p.Ile759=) n.454C= c.*1201C= (n.*1201C=) n.303C= c.1152C= (p.Ile384=) c.315C= (p.Ile105=) c.963C= (p.Ile321=) | |
| 15 | g.90766993C>G | CA393844943 | BLM | c.2277C>G (p.Ile759Met) n.454C>G c.*1201C>G (n.*1201C>G) n.303C>G c.1152C>G (p.Ile384Met) c.315C>G (p.Ile105Met) c.963C>G (p.Ile321Met) | |
| 15 | g.90766993C>T | CA7738709 | BLM | c.2277C>T (p.Ile759=) n.454C>T c.*1201C>T (n.*1201C>T) n.303C>T c.1152C>T (p.Ile384=) c.315C>T (p.Ile105=) c.963C>T (p.Ile321=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90766994A= | CA2195283135 | BLM | c.2278A= (p.Ile760=) n.455A= c.*1202A= (n.*1202A=) n.304A= c.1153A= (p.Ile385=) c.316A= (p.Ile106=) c.964A= (p.Ile322=) | |
| 15 | g.90766994A>C | CA393844944 | BLM | c.2278A>C (p.Ile760Leu) n.455A>C c.*1202A>C (n.*1202A>C) n.304A>C c.1153A>C (p.Ile385Leu) c.316A>C (p.Ile106Leu) c.964A>C (p.Ile322Leu) | |
| 15 | g.90766994A>G | CA393844945 | BLM | c.2278A>G (p.Ile760Val) n.455A>G c.*1202A>G (n.*1202A>G) n.304A>G c.1153A>G (p.Ile385Val) c.316A>G (p.Ile106Val) c.964A>G (p.Ile322Val) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90766994A>T | CA393844946 | BLM | c.2278A>T (p.Ile760Leu) n.455A>T c.*1202A>T (n.*1202A>T) n.304A>T c.1153A>T (p.Ile385Leu) c.316A>T (p.Ile106Leu) c.964A>T (p.Ile322Leu) | ClinVar |
| 15 | g.90766997_90767007del | CA2499223153 | BLM | c.2281_2291del (p.Lys761CysfsTer10) n.458_468del c.*1205_*1215del (n.*1205_*1215del) n.307_317del c.1156_1166del (p.Lys386CysfsTer10) c.319_329del (p.Lys107CysfsTer10) c.967_977del (p.Lys323CysfsTer10) | ClinVar dbSNP |
| 15 | g.90766995T>A | CA393844947 | BLM | c.2279T>A (p.Ile760Lys) n.456T>A c.*1203T>A (n.*1203T>A) n.305T>A c.1154T>A (p.Ile385Lys) c.317T>A (p.Ile106Lys) c.965T>A (p.Ile322Lys) | |
| 15 | g.90766995T>C | CA393844948 | BLM | c.2279T>C (p.Ile760Thr) n.456T>C c.*1203T>C (n.*1203T>C) n.305T>C c.1154T>C (p.Ile385Thr) c.317T>C (p.Ile106Thr) c.965T>C (p.Ile322Thr) | gnomAD v4 |
| 15 | g.90766995T>G | CA393844949 | BLM | c.2279T>G (p.Ile760Arg) n.456T>G c.*1203T>G (n.*1203T>G) n.305T>G c.1154T>G (p.Ile385Arg) c.317T>G (p.Ile106Arg) c.965T>G (p.Ile322Arg) | |
| 15 | g.90766996A= | CA2195283137 | BLM | c.2280A= (p.Ile760=) n.457A= c.*1204A= (n.*1204A=) n.306A= c.1155A= (p.Ile385=) c.318A= (p.Ile106=) c.966A= (p.Ile322=) | |
| 15 | g.90766996A>C | CA492159907 | BLM | c.2280A>C (p.Ile760=) n.457A>C c.*1204A>C (n.*1204A>C) n.306A>C c.1155A>C (p.Ile385=) c.318A>C (p.Ile106=) c.966A>C (p.Ile322=) | ClinVar dbSNP |
| 15 | g.90766996A>G | CA393844950 | BLM | c.2280A>G (p.Ile760Met) n.457A>G c.*1204A>G (n.*1204A>G) n.306A>G c.1155A>G (p.Ile385Met) c.318A>G (p.Ile106Met) c.966A>G (p.Ile322Met) | |
| 15 | g.90766996A>T | CA492159910 | BLM | c.2280A>T (p.Ile760=) n.457A>T c.*1204A>T (n.*1204A>T) n.306A>T c.1155A>T (p.Ile385=) c.318A>T (p.Ile106=) c.966A>T (p.Ile322=) | |
| 15 | g.90766996_90766997insCCCAACAC | CA2805211314 | BLM | c.2280_2281insCCCAACAC (p.Lys761ProfsTer?) n.457_458insCCCAACAC c.*1204_*1205insCCCAACAC (n.*1204_*1205insCCCAACAC) n.306_307insCCCAACAC c.1155_1156insCCCAACAC (p.Lys386ProfsTer?) c.318_319insCCCAACAC (p.Lys107ProfsTer?) c.966_967insCCCAACAC (p.Lys323ProfsTer?) | |
| 15 | g.90766997A= | CA2195283141 | BLM | c.2281A= (p.Lys761=) n.458A= c.*1205A= (n.*1205A=) n.307A= c.1156A= (p.Lys386=) c.319A= (p.Lys107=) c.967A= (p.Lys323=) | |
| 15 | g.90766997A>C | CA393844951 | BLM | c.2281A>C (p.Lys761Gln) n.458A>C c.*1205A>C (n.*1205A>C) n.307A>C c.1156A>C (p.Lys386Gln) c.319A>C (p.Lys107Gln) c.967A>C (p.Lys323Gln) | |
| 15 | g.90766997A>G | CA393844952 | BLM | c.2281A>G (p.Lys761Glu) n.458A>G c.*1205A>G (n.*1205A>G) n.307A>G c.1156A>G (p.Lys386Glu) c.319A>G (p.Lys107Glu) c.967A>G (p.Lys323Glu) | ClinVar dbSNP |
| 15 | g.90766997A>T | CA393844953 | BLM | c.2281A>T (p.Lys761Ter) n.458A>T c.*1205A>T (n.*1205A>T) n.307A>T c.1156A>T (p.Lys386Ter) c.319A>T (p.Lys107Ter) c.967A>T (p.Lys323Ter) | |
| 15 | g.90766998A>C | CA393844956 | BLM | c.2282A>C (p.Lys761Thr) n.459A>C c.*1206A>C (n.*1206A>C) n.308A>C c.1157A>C (p.Lys386Thr) c.320A>C (p.Lys107Thr) c.968A>C (p.Lys323Thr) | |
| 15 | g.90766998A>G | CA393844955 | BLM | c.2282A>G (p.Lys761Arg) n.459A>G c.*1206A>G (n.*1206A>G) n.308A>G c.1157A>G (p.Lys386Arg) c.320A>G (p.Lys107Arg) c.968A>G (p.Lys323Arg) | |
| 15 | g.90766998A>T | CA393844954 | BLM | c.2282A>T (p.Lys761Ile) n.459A>T c.*1206A>T (n.*1206A>T) n.308A>T c.1157A>T (p.Lys386Ile) c.320A>T (p.Lys107Ile) c.968A>T (p.Lys323Ile) | |
| 15 | g.90766999A= | CA2195283148 | BLM | c.2283A= (p.Lys761=) n.460A= c.*1207A= (n.*1207A=) n.309A= c.1158A= (p.Lys386=) c.321A= (p.Lys107=) c.969A= (p.Lys323=) | |
| 15 | g.90766999A>C | CA393844957 | BLM | c.2283A>C (p.Lys761Asn) n.460A>C c.*1207A>C (n.*1207A>C) n.309A>C c.1158A>C (p.Lys386Asn) c.321A>C (p.Lys107Asn) c.969A>C (p.Lys323Asn) | |
| 15 | g.90766999A>G | CA492159918 | BLM | c.2283A>G (p.Lys761=) n.460A>G c.*1207A>G (n.*1207A>G) n.309A>G c.1158A>G (p.Lys386=) c.321A>G (p.Lys107=) c.969A>G (p.Lys323=) | |
| 15 | g.90766999A>T | CA393844958 | BLM | c.2283A>T (p.Lys761Asn) n.460A>T c.*1207A>T (n.*1207A>T) n.309A>T c.1158A>T (p.Lys386Asn) c.321A>T (p.Lys107Asn) c.969A>T (p.Lys323Asn) | ClinVar dbSNP |
| 15 | g.90767000del | CA2573151434 | BLM | c.2284del (p.Leu762PhefsTer?) n.461del c.*1208del (n.*1208del) n.310del c.1159del (p.Leu387PhefsTer?) c.322del (p.Leu108PhefsTer?) c.970del (p.Leu324PhefsTer?) | ClinVar dbSNP |
| 15 | g.90767000C>A | CA393844959 | BLM | c.2284C>A (p.Leu762Ile) n.461C>A c.*1208C>A (n.*1208C>A) n.310C>A c.1159C>A (p.Leu387Ile) c.322C>A (p.Leu108Ile) c.970C>A (p.Leu324Ile) | ClinVar gnomAD v4 |
| 15 | g.90767000C>G | CA393844960 | BLM | c.2284C>G (p.Leu762Val) n.461C>G c.*1208C>G (n.*1208C>G) n.310C>G c.1159C>G (p.Leu387Val) c.322C>G (p.Leu108Val) c.970C>G (p.Leu324Val) | |
| 15 | g.90767000C>T | CA393844961 | BLM | c.2284C>T (p.Leu762Phe) n.461C>T c.*1208C>T (n.*1208C>T) n.310C>T c.1159C>T (p.Leu387Phe) c.322C>T (p.Leu108Phe) c.970C>T (p.Leu324Phe) | ClinVar gnomAD v4 |
| 15 | g.90767001T>A | CA393844962 | BLM | c.2285T>A (p.Leu762His) n.462T>A c.*1209T>A (n.*1209T>A) n.311T>A c.1160T>A (p.Leu387His) c.323T>A (p.Leu108His) c.971T>A (p.Leu324His) | |
| 15 | g.90767001T>C | CA393844963 | BLM | c.2285T>C (p.Leu762Pro) n.462T>C c.*1209T>C (n.*1209T>C) n.311T>C c.1160T>C (p.Leu387Pro) c.323T>C (p.Leu108Pro) c.971T>C (p.Leu324Pro) | dbSNP gnomAD v4 |
| 15 | g.90767001T>G | CA393844964 | BLM | c.2285T>G (p.Leu762Arg) n.462T>G c.*1209T>G (n.*1209T>G) n.311T>G c.1160T>G (p.Leu387Arg) c.323T>G (p.Leu108Arg) c.971T>G (p.Leu324Arg) | |
| 15 | g.90767001T= | CA2195283151 | BLM | c.2285T= (p.Leu762=) n.462T= c.*1209T= (n.*1209T=) n.311T= c.1160T= (p.Leu387=) c.323T= (p.Leu108=) c.971T= (p.Leu324=) | |
| 15 | g.90767002T>A | CA492159926 | BLM | c.2286T>A (p.Leu762=) n.463T>A c.*1210T>A (n.*1210T>A) n.312T>A c.1161T>A (p.Leu387=) c.324T>A (p.Leu108=) c.972T>A (p.Leu324=) | |
| 15 | g.90767002T>C | CA492159927 | BLM | c.2286T>C (p.Leu762=) n.463T>C c.*1210T>C (n.*1210T>C) n.312T>C c.1161T>C (p.Leu387=) c.324T>C (p.Leu108=) c.972T>C (p.Leu324=) | gnomAD v4 |
| 15 | g.90767002T>G | CA492159929 | BLM | c.2286T>G (p.Leu762=) n.463T>G c.*1210T>G (n.*1210T>G) n.312T>G c.1161T>G (p.Leu387=) c.324T>G (p.Leu108=) c.972T>G (p.Leu324=) | |
| 15 | g.90767003C>A | CA274741757 | BLM | c.2287C>A (p.Leu763Ile) n.464C>A c.*1211C>A (n.*1211C>A) n.313C>A c.1162C>A (p.Leu388Ile) c.325C>A (p.Leu109Ile) c.973C>A (p.Leu325Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90767003C= | CA2195283155 | BLM | c.2287C= (p.Leu763=) n.464C= c.*1211C= (n.*1211C=) n.313C= c.1162C= (p.Leu388=) c.325C= (p.Leu109=) c.973C= (p.Leu325=) | |
| 15 | g.90767003C>G | CA393844965 | BLM | c.2287C>G (p.Leu763Val) n.464C>G c.*1211C>G (n.*1211C>G) n.313C>G c.1162C>G (p.Leu388Val) c.325C>G (p.Leu109Val) c.973C>G (p.Leu325Val) | dbSNP |
| 15 | g.90767003C>T | CA492159933 | BLM | c.2287C>T (p.Leu763=) n.464C>T c.*1211C>T (n.*1211C>T) n.313C>T c.1162C>T (p.Leu388=) c.325C>T (p.Leu109=) c.973C>T (p.Leu325=) | ClinVar dbSNP |
| 15 | g.90767003_90767005del | CA912994839 | BLM | c.2287_2289del (p.Leu763del) n.464_466del c.*1211_*1213del (n.*1211_*1213del) n.313_315del c.1162_1164del (p.Leu388del) c.325_327del (p.Leu109del) c.973_975del (p.Leu325del) | |
| 15 | g.90767003_90767005delinsCTA | CA2195283154 | BLM | c.2287_2289delinsCTA (p.Leu763=) n.464_466delinsCTA c.*1211_*1213delinsCTA (n.*1211_*1213delinsCTA) n.313_315delinsCTA c.1162_1164delinsCTA (p.Leu388=) c.325_327delinsCTA (p.Leu109=) c.973_975delinsCTA (p.Leu325=) | |
| 15 | g.90767004T>A | CA393844966 | BLM | c.2288T>A (p.Leu763Gln) n.465T>A c.*1212T>A (n.*1212T>A) n.314T>A c.1163T>A (p.Leu388Gln) c.326T>A (p.Leu109Gln) c.974T>A (p.Leu325Gln) | ClinVar |
| 15 | g.90767004T>C | CA393844967 | BLM | c.2288T>C (p.Leu763Pro) n.465T>C c.*1212T>C (n.*1212T>C) n.314T>C c.1163T>C (p.Leu388Pro) c.326T>C (p.Leu109Pro) c.974T>C (p.Leu325Pro) | ClinVar gnomAD v4 |
| 15 | g.90767004T>G | CA393844968 | BLM | c.2288T>G (p.Leu763Arg) n.465T>G c.*1212T>G (n.*1212T>G) n.314T>G c.1163T>G (p.Leu388Arg) c.326T>G (p.Leu109Arg) c.974T>G (p.Leu325Arg) | |
| 15 | g.90767007_90767008del | CA658824622 | BLM | c.2291_2292del (p.Tyr764CysfsTer10) n.468_469del c.*1215_*1216del (n.*1215_*1216del) n.317_318del c.1166_1167del (p.Tyr389CysfsTer10) c.329_330del (p.Tyr110CysfsTer10) c.977_978del (p.Tyr326CysfsTer10) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90767005A= | CA2195283162 | BLM | c.2289A= (p.Leu763=) n.466A= c.*1213A= (n.*1213A=) n.315A= c.1164A= (p.Leu388=) c.327A= (p.Leu109=) c.975A= (p.Leu325=) | |
| 15 | g.90767005A>C | CA492159938 | BLM | c.2289A>C (p.Leu763=) n.466A>C c.*1213A>C (n.*1213A>C) n.315A>C c.1164A>C (p.Leu388=) c.327A>C (p.Leu109=) c.975A>C (p.Leu325=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90767005A>G | CA492159939 | BLM | c.2289A>G (p.Leu763=) n.466A>G c.*1213A>G (n.*1213A>G) n.315A>G c.1164A>G (p.Leu388=) c.327A>G (p.Leu109=) c.975A>G (p.Leu325=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.90767005A>T | CA492159941 | BLM | c.2289A>T (p.Leu763=) n.466A>T c.*1213A>T (n.*1213A>T) n.315A>T c.1164A>T (p.Leu388=) c.327A>T (p.Leu109=) c.975A>T (p.Leu325=) | ClinVar |
| 15 | g.90767006T>A | CA393844969 | BLM | c.2290T>A (p.Tyr764Asn) n.467T>A c.*1214T>A (n.*1214T>A) n.316T>A c.1165T>A (p.Tyr389Asn) c.328T>A (p.Tyr110Asn) c.976T>A (p.Tyr326Asn) | |
| 15 | g.90767006T>C | CA393844971 | BLM | c.2290T>C (p.Tyr764His) n.467T>C c.*1214T>C (n.*1214T>C) n.316T>C c.1165T>C (p.Tyr389His) c.328T>C (p.Tyr110His) c.976T>C (p.Tyr326His) | ClinVar dbSNP |
| 15 | g.90767006T>G | CA393844970 | BLM | c.2290T>G (p.Tyr764Asp) n.467T>G c.*1214T>G (n.*1214T>G) n.316T>G c.1165T>G (p.Tyr389Asp) c.328T>G (p.Tyr110Asp) c.976T>G (p.Tyr326Asp) | |
| 15 | g.90767006T= | CA2195283166 | BLM | c.2290T= (p.Tyr764=) n.467T= c.*1214T= (n.*1214T=) n.316T= c.1165T= (p.Tyr389=) c.328T= (p.Tyr110=) c.976T= (p.Tyr326=) | |
| 15 | g.90767007A>C | CA393844972 | BLM | c.2291A>C (p.Tyr764Ser) n.468A>C c.*1215A>C (n.*1215A>C) n.317A>C c.1166A>C (p.Tyr389Ser) c.329A>C (p.Tyr110Ser) c.977A>C (p.Tyr326Ser) | |
| 15 | g.90767007A>G | CA393844973 | BLM | c.2291A>G (p.Tyr764Cys) n.468A>G c.*1215A>G (n.*1215A>G) n.317A>G c.1166A>G (p.Tyr389Cys) c.329A>G (p.Tyr110Cys) c.977A>G (p.Tyr326Cys) | ClinVar |
| 15 | g.90767007A>T | CA393844974 | BLM | c.2291A>T (p.Tyr764Phe) n.468A>T c.*1215A>T (n.*1215A>T) n.317A>T c.1166A>T (p.Tyr389Phe) c.329A>T (p.Tyr110Phe) c.977A>T (p.Tyr326Phe) | |
| 15 | g.90767008T>A | CA393844975 | BLM | c.2292T>A (p.Tyr764Ter) n.469T>A c.*1216T>A (n.*1216T>A) n.318T>A c.1167T>A (p.Tyr389Ter) c.330T>A (p.Tyr110Ter) c.978T>A (p.Tyr326Ter) | |
| 15 | g.90767008T>C | CA492159948 | BLM | c.2292T>C (p.Tyr764=) n.469T>C c.*1216T>C (n.*1216T>C) n.318T>C c.1167T>C (p.Tyr389=) c.330T>C (p.Tyr110=) c.978T>C (p.Tyr326=) | |
| 15 | g.90767008T>G | CA393844976 | BLM | c.2292T>G (p.Tyr764Ter) n.469T>G c.*1216T>G (n.*1216T>G) n.318T>G c.1167T>G (p.Tyr389Ter) c.330T>G (p.Tyr110Ter) c.978T>G (p.Tyr326Ter) | ClinVar dbSNP |
| 15 | g.90767009G>A | CA7738710 | BLM | c.2293G>A (p.Val765Ile) n.470G>A c.*1217G>A (n.*1217G>A) n.319G>A c.1168G>A (p.Val390Ile) c.331G>A (p.Val111Ile) c.979G>A (p.Val327Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90767009G>C | CA393844977 | BLM | c.2293G>C (p.Val765Leu) n.470G>C c.*1217G>C (n.*1217G>C) n.319G>C c.1168G>C (p.Val390Leu) c.331G>C (p.Val111Leu) c.979G>C (p.Val327Leu) | |
| 15 | g.90767009G= | CA2195283171 | BLM | c.2293G= (p.Val765=) n.470G= c.*1217G= (n.*1217G=) n.319G= c.1168G= (p.Val390=) c.331G= (p.Val111=) c.979G= (p.Val327=) | |
| 15 | g.90767009G>T | CA393844978 | BLM | c.2293G>T (p.Val765Phe) n.470G>T c.*1217G>T (n.*1217G>T) n.319G>T c.1168G>T (p.Val390Phe) c.331G>T (p.Val111Phe) c.979G>T (p.Val327Phe) | |
| 15 | g.90767010T>A | CA393844979 | BLM | c.2294T>A (p.Val765Asp) n.471T>A c.*1218T>A (n.*1218T>A) n.320T>A c.1169T>A (p.Val390Asp) c.332T>A (p.Val111Asp) c.980T>A (p.Val327Asp) | |
| 15 | g.90767010T>C | CA393844980 | BLM | c.2294T>C (p.Val765Ala) n.471T>C c.*1218T>C (n.*1218T>C) n.320T>C c.1169T>C (p.Val390Ala) c.332T>C (p.Val111Ala) c.980T>C (p.Val327Ala) | ClinVar gnomAD v4 |
| 15 | g.90767010T>G | CA393844981 | BLM | c.2294T>G (p.Val765Gly) n.471T>G c.*1218T>G (n.*1218T>G) n.320T>G c.1169T>G (p.Val390Gly) c.332T>G (p.Val111Gly) c.980T>G (p.Val327Gly) | |
| 15 | g.90767011C>A | CA492159954 | BLM | c.2295C>A (p.Val765=) n.472C>A c.*1219C>A (n.*1219C>A) n.321C>A c.1170C>A (p.Val390=) c.333C>A (p.Val111=) c.981C>A (p.Val327=) | gnomAD v4 |
| 15 | g.90767011C>G | CA492159956 | BLM | c.2295C>G (p.Val765=) n.472C>G c.*1219C>G (n.*1219C>G) n.321C>G c.1170C>G (p.Val390=) c.333C>G (p.Val111=) c.981C>G (p.Val327=) | |
| 15 | g.90767011C>T | CA492159957 | BLM | c.2295C>T (p.Val765=) n.472C>T c.*1219C>T (n.*1219C>T) n.321C>T c.1170C>T (p.Val390=) c.333C>T (p.Val111=) c.981C>T (p.Val327=) | gnomAD v4 |
| 15 | g.90767012A>C | CA393844983 | BLM | c.2296A>C (p.Thr766Pro) n.473A>C c.*1220A>C (n.*1220A>C) n.322A>C c.1171A>C (p.Thr391Pro) c.334A>C (p.Thr112Pro) c.982A>C (p.Thr328Pro) | |
| 15 | g.90767012A>G | CA393844984 | BLM | c.2296A>G (p.Thr766Ala) n.473A>G c.*1220A>G (n.*1220A>G) n.322A>G c.1171A>G (p.Thr391Ala) c.334A>G (p.Thr112Ala) c.982A>G (p.Thr328Ala) | |
| 15 | g.90767012A>T | CA393844982 | BLM | c.2296A>T (p.Thr766Ser) n.473A>T c.*1220A>T (n.*1220A>T) n.322A>T c.1171A>T (p.Thr391Ser) c.334A>T (p.Thr112Ser) c.982A>T (p.Thr328Ser) | |
| 15 | g.90767013C>A | CA393844987 | BLM | c.2297C>A (p.Thr766Asn) n.474C>A c.*1221C>A (n.*1221C>A) n.323C>A c.1172C>A (p.Thr391Asn) c.335C>A (p.Thr112Asn) c.983C>A (p.Thr328Asn) | gnomAD v4 |
| 15 | g.90767013C= | CA2195283175 | BLM | c.2297C= (p.Thr766=) n.474C= c.*1221C= (n.*1221C=) n.323C= c.1172C= (p.Thr391=) c.335C= (p.Thr112=) c.983C= (p.Thr328=) | |
| 15 | g.90767013C>G | CA393844985 | BLM | c.2297C>G (p.Thr766Ser) n.474C>G c.*1221C>G (n.*1221C>G) n.323C>G c.1172C>G (p.Thr391Ser) c.335C>G (p.Thr112Ser) c.983C>G (p.Thr328Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.90767013C>T | CA393844986 | BLM | c.2297C>T (p.Thr766Ile) n.474C>T c.*1221C>T (n.*1221C>T) n.323C>T c.1172C>T (p.Thr391Ile) c.335C>T (p.Thr112Ile) c.983C>T (p.Thr328Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.90767014T>A | CA492159969 | BLM | c.2298T>A (p.Thr766=) n.475T>A c.*1222T>A (n.*1222T>A) n.324T>A c.1173T>A (p.Thr391=) c.336T>A (p.Thr112=) c.984T>A (p.Thr328=) | ClinVar dbSNP |
| 15 | g.90767014T>C | CA492159968 | BLM | c.2298T>C (p.Thr766=) n.475T>C c.*1222T>C (n.*1222T>C) n.324T>C c.1173T>C (p.Thr391=) c.336T>C (p.Thr112=) c.984T>C (p.Thr328=) | ClinVar |
| 15 | g.90767014T>G | CA492159966 | BLM | c.2298T>G (p.Thr766=) n.475T>G c.*1222T>G (n.*1222T>G) n.324T>G c.1173T>G (p.Thr391=) c.336T>G (p.Thr112=) c.984T>G (p.Thr328=) | |
| 15 | g.90767015C>A | CA393844988 | BLM | c.2299C>A (p.Pro767Thr) n.476C>A c.*1223C>A (n.*1223C>A) n.325C>A c.1174C>A (p.Pro392Thr) c.337C>A (p.Pro113Thr) c.985C>A (p.Pro329Thr) | gnomAD v4 |
| 15 | g.90767015C>G | CA393844989 | BLM | c.2299C>G (p.Pro767Ala) n.476C>G c.*1223C>G (n.*1223C>G) n.325C>G c.1174C>G (p.Pro392Ala) c.337C>G (p.Pro113Ala) c.985C>G (p.Pro329Ala) | |
| 15 | g.90767015C>T | CA393844990 | BLM | c.2299C>T (p.Pro767Ser) n.476C>T c.*1223C>T (n.*1223C>T) n.325C>T c.1174C>T (p.Pro392Ser) c.337C>T (p.Pro113Ser) c.985C>T (p.Pro329Ser) | |
| 15 | g.90767016C>A | CA393844991 | BLM | c.2300C>A (p.Pro767Gln) n.477C>A c.*1224C>A (n.*1224C>A) n.326C>A c.1175C>A (p.Pro392Gln) c.338C>A (p.Pro113Gln) c.986C>A (p.Pro329Gln) | gnomAD v4 |
| 15 | g.90767016C>G | CA393844992 | BLM | c.2300C>G (p.Pro767Arg) n.477C>G c.*1224C>G (n.*1224C>G) n.326C>G c.1175C>G (p.Pro392Arg) c.338C>G (p.Pro113Arg) c.986C>G (p.Pro329Arg) | |
| 15 | g.90767016C>T | CA393844993 | BLM | c.2300C>T (p.Pro767Leu) n.477C>T c.*1224C>T (n.*1224C>T) n.326C>T c.1175C>T (p.Pro392Leu) c.338C>T (p.Pro113Leu) c.986C>T (p.Pro329Leu) | ClinVar |
| 15 | g.90767017A>C | CA492159975 | BLM | c.2301A>C (p.Pro767=) n.478A>C c.*1225A>C (n.*1225A>C) n.327A>C c.1176A>C (p.Pro392=) c.339A>C (p.Pro113=) c.987A>C (p.Pro329=) | ClinVar |
| 15 | g.90767017A>G | CA492159977 | BLM | c.2301A>G (p.Pro767=) n.478A>G c.*1225A>G (n.*1225A>G) n.327A>G c.1176A>G (p.Pro392=) c.339A>G (p.Pro113=) c.987A>G (p.Pro329=) | gnomAD v4 |
| 15 | g.90767017A>T | CA492159979 | BLM | c.2301A>T (p.Pro767=) n.478A>T c.*1225A>T (n.*1225A>T) n.327A>T c.1176A>T (p.Pro392=) c.339A>T (p.Pro113=) c.987A>T (p.Pro329=) | |
| 15 | g.90767018G>A | CA16614793 | BLM | c.2302G>A (p.Glu768Lys) n.479G>A c.*1226G>A (n.*1226G>A) n.328G>A c.1177G>A (p.Glu393Lys) c.340G>A (p.Glu114Lys) c.988G>A (p.Glu330Lys) | ClinVar dbSNP |
| 15 | g.90767018G>C | CA393844994 | BLM | c.2302G>C (p.Glu768Gln) n.479G>C c.*1226G>C (n.*1226G>C) n.328G>C c.1177G>C (p.Glu393Gln) c.340G>C (p.Glu114Gln) c.988G>C (p.Glu330Gln) | |
| 15 | g.90767018G= | CA2195283182 | BLM | c.2302G= (p.Glu768=) n.479G= c.*1226G= (n.*1226G=) n.328G= c.1177G= (p.Glu393=) c.340G= (p.Glu114=) c.988G= (p.Glu330=) | |
| 15 | g.90767018G>T | CA393844995 | BLM | c.2302G>T (p.Glu768Ter) n.479G>T c.*1226G>T (n.*1226G>T) n.328G>T c.1177G>T (p.Glu393Ter) c.340G>T (p.Glu114Ter) c.988G>T (p.Glu330Ter) | |
| 15 | g.90767019A>C | CA393844998 | BLM | c.2303A>C (p.Glu768Ala) n.480A>C c.*1227A>C (n.*1227A>C) n.329A>C c.1178A>C (p.Glu393Ala) c.341A>C (p.Glu114Ala) c.989A>C (p.Glu330Ala) | |
| 15 | g.90767019A>G | CA393844997 | BLM | c.2303A>G (p.Glu768Gly) n.480A>G c.*1227A>G (n.*1227A>G) n.329A>G c.1178A>G (p.Glu393Gly) c.341A>G (p.Glu114Gly) c.989A>G (p.Glu330Gly) | |
| 15 | g.90767019A>T | CA393844996 | BLM | c.2303A>T (p.Glu768Val) n.480A>T c.*1227A>T (n.*1227A>T) n.329A>T c.1178A>T (p.Glu393Val) c.341A>T (p.Glu114Val) c.989A>T (p.Glu330Val) | |
| 15 | g.90767020A>C | CA393844999 | BLM | c.2304A>C (p.Glu768Asp) n.481A>C c.*1228A>C (n.*1228A>C) n.330A>C c.1179A>C (p.Glu393Asp) c.342A>C (p.Glu114Asp) c.990A>C (p.Glu330Asp) | |
| 15 | g.90767020A>G | CA492159991 | BLM | c.2304A>G (p.Glu768=) n.481A>G c.*1228A>G (n.*1228A>G) n.330A>G c.1179A>G (p.Glu393=) c.342A>G (p.Glu114=) c.990A>G (p.Glu330=) | gnomAD v4 |
| 15 | g.90767020A>T | CA393845000 | BLM | c.2304A>T (p.Glu768Asp) n.481A>T c.*1228A>T (n.*1228A>T) n.330A>T c.1179A>T (p.Glu393Asp) c.342A>T (p.Glu114Asp) c.990A>T (p.Glu330Asp) | |
| 15 | g.90767021A= | CA2195283186 | BLM | c.2305A= (p.Lys769=) n.482A= c.*1229A= (n.*1229A=) n.331A= c.1180A= (p.Lys394=) c.343A= (p.Lys115=) c.991A= (p.Lys331=) | |
| 15 | g.90767021A>C | CA393845001 | BLM | c.2305A>C (p.Lys769Gln) n.482A>C c.*1229A>C (n.*1229A>C) n.331A>C c.1180A>C (p.Lys394Gln) c.343A>C (p.Lys115Gln) c.991A>C (p.Lys331Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.90767021A>G | CA393845002 | BLM | c.2305A>G (p.Lys769Glu) n.482A>G c.*1229A>G (n.*1229A>G) n.331A>G c.1180A>G (p.Lys394Glu) c.343A>G (p.Lys115Glu) c.991A>G (p.Lys331Glu) | |
| 15 | g.90767021A>T | CA393845003 | BLM | c.2305A>T (p.Lys769Ter) n.482A>T c.*1229A>T (n.*1229A>T) n.331A>T c.1180A>T (p.Lys394Ter) c.343A>T (p.Lys115Ter) c.991A>T (p.Lys331Ter) | |
| 15 | g.90767022A>C | CA393845004 | BLM | c.2306A>C (p.Lys769Thr) n.483A>C c.*1230A>C (n.*1230A>C) n.332A>C c.1181A>C (p.Lys394Thr) c.344A>C (p.Lys115Thr) c.992A>C (p.Lys331Thr) | |
| 15 | g.90767022A>G | CA393845005 | BLM | c.2306A>G (p.Lys769Arg) n.483A>G c.*1230A>G (n.*1230A>G) n.332A>G c.1181A>G (p.Lys394Arg) c.344A>G (p.Lys115Arg) c.992A>G (p.Lys331Arg) | |
| 15 | g.90767022A>T | CA393845006 | BLM | c.2306A>T (p.Lys769Met) n.483A>T c.*1230A>T (n.*1230A>T) n.332A>T c.1181A>T (p.Lys394Met) c.344A>T (p.Lys115Met) c.992A>T (p.Lys331Met) | |
| 15 | g.90767023G>A | CA492159996 | BLM | c.2307G>A (p.Lys769=) n.484G>A c.*1231G>A (n.*1231G>A) n.333G>A c.1182G>A (p.Lys394=) c.345G>A (p.Lys115=) c.993G>A (p.Lys331=) | ClinVar |
| 15 | g.90767023G>C | CA393845007 | BLM | c.2307G>C (p.Lys769Asn) n.484G>C c.*1231G>C (n.*1231G>C) n.333G>C c.1182G>C (p.Lys394Asn) c.345G>C (p.Lys115Asn) c.993G>C (p.Lys331Asn) | |
| 15 | g.90767023G= | CA2195283192 | BLM | c.2307G= (p.Lys769=) n.484G= c.*1231G= (n.*1231G=) n.333G= c.1182G= (p.Lys394=) c.345G= (p.Lys115=) c.993G= (p.Lys331=) | |
| 15 | g.90767023G>T | CA7738711 | BLM | c.2307G>T (p.Lys769Asn) n.484G>T c.*1231G>T (n.*1231G>T) n.333G>T c.1182G>T (p.Lys394Asn) c.345G>T (p.Lys115Asn) c.993G>T (p.Lys331Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.90767023_90767027delinsGGTTT | CA2195283190 | BLM | c.2307_2307+4delinsGGTTT n.484_484+4delinsGGTTT c.*1231_*1231+4delinsGGTTT n.333_333+4delinsGGTTT c.1182_1182+4delinsGGTTT c.345_345+4delinsGGTTT c.993_993+4delinsGGTTT | |
| 15 | g.90767024G>A | CA393845008 | BLM | c.2307+1G>A (n.2307+1G>A) n.484+1G>A c.*1231+1G>A (n.*1231+1G>A) n.333+1G>A c.1182+1G>A (n.1182+1G>A) c.345+1G>A (n.345+1G>A) c.993+1G>A (n.993+1G>A) | ClinVar gnomAD v4 |
| 15 | g.90767024G>C | CA393845009 | BLM | c.2307+1G>C (n.2307+1G>C) n.484+1G>C c.*1231+1G>C (n.*1231+1G>C) n.333+1G>C c.1182+1G>C (n.1182+1G>C) c.345+1G>C (n.345+1G>C) c.993+1G>C (n.993+1G>C) | ClinVar |
| 15 | g.90767024G>T | CA393845010 | BLM | c.2307+1G>T (n.2307+1G>T) n.484+1G>T c.*1231+1G>T (n.*1231+1G>T) n.333+1G>T c.1182+1G>T (n.1182+1G>T) c.345+1G>T (n.345+1G>T) c.993+1G>T (n.993+1G>T) | gnomAD v4 |
| 15 | g.90767026_90767029del | CA717021380 | BLM | c.2307+3_2307+6del (n.2307+3_2307+6del) n.484+3_484+6del c.*1231+3_*1231+6del (n.*1231+3_*1231+6del) n.333+3_333+6del c.1182+3_1182+6del (n.1182+3_1182+6del) c.345+3_345+6del (n.345+3_345+6del) c.993+3_993+6del (n.993+3_993+6del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.90767025T>A | CA393845012 | BLM | c.2307+2T>A (n.2307+2T>A) n.484+2T>A c.*1231+2T>A (n.*1231+2T>A) n.333+2T>A c.1182+2T>A (n.1182+2T>A) c.345+2T>A (n.345+2T>A) c.993+2T>A (n.993+2T>A) | |
| 15 | g.90767025T>C | CA393845013 | BLM | c.2307+2T>C (n.2307+2T>C) n.484+2T>C c.*1231+2T>C (n.*1231+2T>C) n.333+2T>C c.1182+2T>C (n.1182+2T>C) c.345+2T>C (n.345+2T>C) c.993+2T>C (n.993+2T>C) | gnomAD v4 |
| 15 | g.90767025T>G | CA393845011 | BLM | c.2307+2T>G (n.2307+2T>G) n.484+2T>G c.*1231+2T>G (n.*1231+2T>G) n.333+2T>G c.1182+2T>G (n.1182+2T>G) c.345+2T>G (n.345+2T>G) c.993+2T>G (n.993+2T>G) | ClinVar dbSNP |