| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.43065267_43065269delinsAAA | CA2579812672 | CBS | c.670_672delinsTTT (p.Arg224Phe) n.981_983delinsTTT c.721_723delinsTTT (p.Arg241Phe) c.355_357delinsTTT (p.Arg119Phe) n.1041_1043delinsTTT n.820_822delinsTTT | |
| 21 | g.43065267_43065269delinsAAC | CA2579812665 | CBS | c.670_672delinsGTT (p.Arg224Val) n.981_983delinsGTT c.721_723delinsGTT (p.Arg241Val) c.355_357delinsGTT (p.Arg119Val) n.1041_1043delinsGTT n.820_822delinsGTT | |
| 21 | g.43065267_43065269delinsACA | CA2579812679 | CBS | c.670_672delinsTGT (p.Arg224Cys) n.981_983delinsTGT c.721_723delinsTGT (p.Arg241Cys) c.355_357delinsTGT (p.Arg119Cys) n.1041_1043delinsTGT n.820_822delinsTGT | |
| 21 | g.43065267_43065269delinsACC | CA2579812676 | CBS | c.670_672delinsGGT (p.Arg224Gly) n.981_983delinsGGT c.721_723delinsGGT (p.Arg241Gly) c.355_357delinsGGT (p.Arg119Gly) n.1041_1043delinsGGT n.820_822delinsGGT | |
| 21 | g.43065267_43065269delinsACT | CA2579812670 | CBS | c.670_672delinsAGT (p.Arg224Ser) n.981_983delinsAGT c.721_723delinsAGT (p.Arg241Ser) c.355_357delinsAGT (p.Arg119Ser) n.1041_1043delinsAGT n.820_822delinsAGT | |
| 21 | g.43065267_43065269delinsAGA | CA2579812669 | CBS | c.670_672delinsTCT (p.Arg224Ser) n.981_983delinsTCT c.721_723delinsTCT (p.Arg241Ser) c.355_357delinsTCT (p.Arg119Ser) n.1041_1043delinsTCT n.820_822delinsTCT | |
| 21 | g.43065267_43065269delinsAGC | CA2579812681 | CBS | c.670_672delinsGCT (p.Arg224Ala) n.981_983delinsGCT c.721_723delinsGCT (p.Arg241Ala) c.355_357delinsGCT (p.Arg119Ala) n.1041_1043delinsGCT n.820_822delinsGCT | |
| 21 | g.43065267_43065269delinsATA | CA2579812667 | CBS | c.670_672delinsTAT (p.Arg224Tyr) n.981_983delinsTAT c.721_723delinsTAT (p.Arg241Tyr) c.355_357delinsTAT (p.Arg119Tyr) n.1041_1043delinsTAT n.820_822delinsTAT | |
| 21 | g.43065267_43065269delinsATC | CA2579812680 | CBS | c.670_672delinsGAT (p.Arg224Asp) n.981_983delinsGAT c.721_723delinsGAT (p.Arg241Asp) c.355_357delinsGAT (p.Arg119Asp) n.1041_1043delinsGAT n.820_822delinsGAT | |
| 21 | g.43065267_43065269delinsCAA | CA2579812678 | CBS | c.670_672delinsTTG (p.Arg224Leu) n.981_983delinsTTG c.721_723delinsTTG (p.Arg241Leu) c.355_357delinsTTG (p.Arg119Leu) n.1041_1043delinsTTG n.820_822delinsTTG | |
| 21 | g.43065267_43065269delinsCCA | CA2579812668 | CBS | c.670_672delinsTGG (p.Arg224Trp) n.981_983delinsTGG c.721_723delinsTGG (p.Arg241Trp) c.355_357delinsTGG (p.Arg119Trp) n.1041_1043delinsTGG n.820_822delinsTGG | |
| 21 | g.43065267_43065269delinsCCC | CA2579812677 | CBS | c.670_672delinsGGG (p.Arg224Gly) n.981_983delinsGGG c.721_723delinsGGG (p.Arg241Gly) c.355_357delinsGGG (p.Arg119Gly) n.1041_1043delinsGGG n.820_822delinsGGG | |
| 21 | g.43065267_43065269delinsTCA | CA2579813876 | CBS | c.670_672delinsTGA (p.Arg224Ter) n.981_983delinsTGA c.721_723delinsTGA (p.Arg241Ter) c.355_357delinsTGA (p.Arg119Ter) n.1041_1043delinsTGA n.820_822delinsTGA | |
| 21 | g.43065267_43065269delinsTCT | CA2579813878 | CBS | c.670_672delinsAGA (p.Arg224=) n.981_983delinsAGA c.721_723delinsAGA (p.Arg241=) c.355_357delinsAGA (p.Arg119=) n.1041_1043delinsAGA n.820_822delinsAGA | |
| 21 | g.43065268_43065269delinsTA | CA2579813875 | CBS | c.670_671delinsTA (p.Arg224Tyr) n.981_982delinsTA c.721_722delinsTA (p.Arg241Tyr) c.355_356delinsTA (p.Arg119Tyr) n.1041_1042delinsTA n.820_821delinsTA | |
| 21 | g.43065269G>A | CA322963 | CBS | c.670C>T (p.Arg224Cys) n.981C>T c.721C>T (p.Arg241Cys) c.355C>T (p.Arg119Cys) n.1041C>T n.820C>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 21 | g.43065269G>C | CA410600670 | CBS | c.670C>G (p.Arg224Gly) n.981C>G c.721C>G (p.Arg241Gly) c.355C>G (p.Arg119Gly) n.1041C>G n.820C>G | |
| 21 | g.43065269G= | CA2391103655 | CBS | c.670C= (p.Arg224=) n.981C= c.721C= (p.Arg241=) c.355C= (p.Arg119=) n.1041C= n.820C= | |
| 21 | g.43065269G>T | CA410600671 | CBS | c.670C>A (p.Arg224Ser) n.981C>A c.721C>A (p.Arg241Ser) c.355C>A (p.Arg119Ser) n.1041C>A n.820C>A | gnomAD v4 |
| 21 | g.43065270G>A | CA749579774 | CBS | c.669C>T (p.Tyr223=) n.980C>T c.720C>T (p.Tyr240=) c.354C>T (p.Tyr118=) n.1040C>T n.819C>T | ClinVar dbSNP gnomAD v4 |
| 21 | g.43065270G>C | CA410600672 | CBS | c.669C>G (p.Tyr223Ter) n.980C>G c.720C>G (p.Tyr240Ter) c.354C>G (p.Tyr118Ter) n.1040C>G n.819C>G | |
| 21 | g.43065270G= | CA2391103656 | CBS | c.669C= (p.Tyr223=) n.980C= c.720C= (p.Tyr240=) c.354C= (p.Tyr118=) n.1040C= n.819C= | |
| 21 | g.43065270G>T | CA410600674 | CBS | c.669C>A (p.Tyr223Ter) n.980C>A c.720C>A (p.Tyr240Ter) c.354C>A (p.Tyr118Ter) n.1040C>A n.819C>A | gnomAD v4 |
| 21 | g.43065270_43065271delinsAA | CA2579803528 | CBS | c.668_669delinsTT (p.Tyr223Phe) n.979_980delinsTT c.719_720delinsTT (p.Tyr240Phe) c.353_354delinsTT (p.Tyr118Phe) n.1039_1040delinsTT n.818_819delinsTT | |
| 21 | g.43065270_43065271delinsAC | CA2579803536 | CBS | c.668_669delinsGT (p.Tyr223Cys) n.979_980delinsGT c.719_720delinsGT (p.Tyr240Cys) c.353_354delinsGT (p.Tyr118Cys) n.1039_1040delinsGT n.818_819delinsGT | |
| 21 | g.43065270_43065271delinsAG | CA2579803526 | CBS | c.668_669delinsCT (p.Tyr223Ser) n.979_980delinsCT c.719_720delinsCT (p.Tyr240Ser) c.353_354delinsCT (p.Tyr118Ser) n.1039_1040delinsCT n.818_819delinsCT | |
| 21 | g.43065270_43065271delinsCA | CA2579803532 | CBS | c.668_669delinsTG (p.Tyr223Leu) n.979_980delinsTG c.719_720delinsTG (p.Tyr240Leu) c.353_354delinsTG (p.Tyr118Leu) n.1039_1040delinsTG n.818_819delinsTG | |
| 21 | g.43065270_43065271delinsCC | CA2579803522 | CBS | c.668_669delinsGG (p.Tyr223Trp) n.979_980delinsGG c.719_720delinsGG (p.Tyr240Trp) c.353_354delinsGG (p.Tyr118Trp) n.1039_1040delinsGG n.818_819delinsGG | |
| 21 | g.43065270_43065271delinsCG | CA2579803524 | CBS | c.668_669delinsCG (p.Tyr223Ser) n.979_980delinsCG c.719_720delinsCG (p.Tyr240Ser) c.353_354delinsCG (p.Tyr118Ser) n.1039_1040delinsCG n.818_819delinsCG | |
| 21 | g.43065270_43065271delinsTA | CA2579803530 | CBS | c.668_669delinsTA (p.Tyr223Leu) n.979_980delinsTA c.719_720delinsTA (p.Tyr240Leu) c.353_354delinsTA (p.Tyr118Leu) n.1039_1040delinsTA n.818_819delinsTA | |
| 21 | g.43065270_43065272delinsAAC | CA2579803521 | CBS | c.667_669delinsGTT (p.Tyr223Val) n.978_980delinsGTT c.718_720delinsGTT (p.Tyr240Val) c.352_354delinsGTT (p.Tyr118Val) n.1038_1040delinsGTT n.817_819delinsGTT | |
| 21 | g.43065270_43065272delinsAAG | CA2579803529 | CBS | c.667_669delinsCTT (p.Tyr223Leu) n.978_980delinsCTT c.718_720delinsCTT (p.Tyr240Leu) c.352_354delinsCTT (p.Tyr118Leu) n.1038_1040delinsCTT n.817_819delinsCTT | |
| 21 | g.43065270_43065272delinsAAT | CA2579803535 | CBS | c.667_669delinsATT (p.Tyr223Ile) n.978_980delinsATT c.718_720delinsATT (p.Tyr240Ile) c.352_354delinsATT (p.Tyr118Ile) n.1038_1040delinsATT n.817_819delinsATT | |
| 21 | g.43065270_43065272delinsAGC | CA2579803567 | CBS | c.667_669delinsGCT (p.Tyr223Ala) n.978_980delinsGCT c.718_720delinsGCT (p.Tyr240Ala) c.352_354delinsGCT (p.Tyr118Ala) n.1038_1040delinsGCT n.817_819delinsGCT | |
| 21 | g.43065270_43065272delinsATC | CA2579803538 | CBS | c.667_669delinsGAT (p.Tyr223Asp) n.978_980delinsGAT c.718_720delinsGAT (p.Tyr240Asp) c.352_354delinsGAT (p.Tyr118Asp) n.1038_1040delinsGAT n.817_819delinsGAT | |
| 21 | g.43065270_43065272delinsATG | CA2579803533 | CBS | c.667_669delinsCAT (p.Tyr223His) n.978_980delinsCAT c.718_720delinsCAT (p.Tyr240His) c.352_354delinsCAT (p.Tyr118His) n.1038_1040delinsCAT n.817_819delinsCAT | |
| 21 | g.43065270_43065272delinsATT | CA2579803565 | CBS | c.667_669delinsAAT (p.Tyr223Asn) n.978_980delinsAAT c.718_720delinsAAT (p.Tyr240Asn) c.352_354delinsAAT (p.Tyr118Asn) n.1038_1040delinsAAT n.817_819delinsAAT | |
| 21 | g.43065270_43065272delinsCAC | CA2579803523 | CBS | c.667_669delinsGTG (p.Tyr223Val) n.978_980delinsGTG c.718_720delinsGTG (p.Tyr240Val) c.352_354delinsGTG (p.Tyr118Val) n.1038_1040delinsGTG n.817_819delinsGTG | |
| 21 | g.43065270_43065272delinsCAT | CA2579803531 | CBS | c.667_669delinsATG (p.Tyr223Met) n.978_980delinsATG c.718_720delinsATG (p.Tyr240Met) c.352_354delinsATG (p.Tyr118Met) n.1038_1040delinsATG n.817_819delinsATG | |
| 21 | g.43065270_43065272delinsCGG | CA2579803527 | CBS | c.667_669delinsCCG (p.Tyr223Pro) n.978_980delinsCCG c.718_720delinsCCG (p.Tyr240Pro) c.352_354delinsCCG (p.Tyr118Pro) n.1038_1040delinsCCG n.817_819delinsCCG | |
| 21 | g.43065270_43065272delinsTTG | CA2579803534 | CBS | c.667_669delinsCAA (p.Tyr223Gln) n.978_980delinsCAA c.718_720delinsCAA (p.Tyr240Gln) c.352_354delinsCAA (p.Tyr118Gln) n.1038_1040delinsCAA n.817_819delinsCAA | |
| 21 | g.43065271T>A | CA410600679 | CBS | c.668A>T (p.Tyr223Phe) n.979A>T c.719A>T (p.Tyr240Phe) c.353A>T (p.Tyr118Phe) n.1039A>T n.818A>T | |
| 21 | g.43065271T>C | CA410600677 | CBS | c.668A>G (p.Tyr223Cys) n.979A>G c.719A>G (p.Tyr240Cys) c.353A>G (p.Tyr118Cys) n.1039A>G n.818A>G | |
| 21 | g.43065271T>G | CA410600676 | CBS | c.668A>C (p.Tyr223Ser) n.979A>C c.719A>C (p.Tyr240Ser) c.353A>C (p.Tyr118Ser) n.1039A>C n.818A>C | |
| 21 | g.43065271_43065272delinsGG | CA2579803525 | CBS | c.667_668delinsCC (p.Tyr223Pro) n.978_979delinsCC c.718_719delinsCC (p.Tyr240Pro) c.352_353delinsCC (p.Tyr118Pro) n.1038_1039delinsCC n.817_818delinsCC | |
| 21 | g.43065272A= | CA2391103657 | CBS | c.667T= (p.Tyr223=) n.978T= c.718T= (p.Tyr240=) c.352T= (p.Tyr118=) n.1038T= n.817T= | |
| 21 | g.43065272A>C | CA410600680 | CBS | c.667T>G (p.Tyr223Asp) n.978T>G c.718T>G (p.Tyr240Asp) c.352T>G (p.Tyr118Asp) n.1038T>G n.817T>G | dbSNP gnomAD v4 |
| 21 | g.43065272A>G | CA410600682 | CBS | c.667T>C (p.Tyr223His) n.978T>C c.718T>C (p.Tyr240His) c.352T>C (p.Tyr118His) n.1038T>C n.817T>C | gnomAD v4 |
| 21 | g.43065272A>T | CA410600684 | CBS | c.667T>A (p.Tyr223Asn) n.978T>A c.718T>A (p.Tyr240Asn) c.352T>A (p.Tyr118Asn) n.1038T>A n.817T>A | |
| 21 | g.43065273C>A | CA410600685 | CBS | c.667-1G>T (n.667-1G>T) n.978-1G>T c.718-1G>T (n.718-1G>T) c.352-1G>T (n.352-1G>T) n.1038-1G>T n.817-1G>T |