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 |
|---|---|---|---|---|---|
| 5 | g.134606912G>A | CA804207755 | SAR1B | c.*38C>T (n.*38C>T) n.2604C>T | dbSNP |
| 5 | g.134606912G>C | CA2604542639 | SAR1B | c.*38C>G (n.*38C>G) n.2604C>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.134606912G= | CA1584149863 | SAR1B | c.*38C= (n.*38C=) n.2604C= | |
| 5 | g.134606912G>T | CA2675321733 | SAR1B | c.*38C>A (n.*38C>A) n.2604C>A | gnomAD v4 |
| 5 | g.134606912_134606913delinsGC | CA1584149862 | SAR1B | c.*37_*38delinsGC (n.*37_*38delinsGC) n.2603_2604delinsGC | |
| 5 | g.134606913C= | CA1584149865 | SAR1B | c.*37G= (n.*37G=) n.2603G= | |
| 5 | g.134606913C>G | CA1584149866 | SAR1B | c.*37G>C (n.*37G>C) n.2603G>C | dbSNP |
| 5 | g.134606913C>T | CA562819128 | SAR1B | c.*37G>A (n.*37G>A) n.2603G>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.134606914del | CA1584149864 | SAR1B | c.*37del (n.*37del) n.2603del | dbSNP |
| 5 | g.134606914C>A | CA2578412448 | SAR1B | c.*36G>T (n.*36G>T) n.2602G>T | |
| 5 | g.134606915T>C | CA3414386 | SAR1B | c.*35A>G (n.*35A>G) n.2601A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.134606915T= | CA1584149867 | SAR1B | c.*35A= (n.*35A=) n.2601A= | |
| 5 | g.134606916G>A | CA562819134 | SAR1B | c.*34C>T (n.*34C>T) n.2600C>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.134606916G= | CA1584149868 | SAR1B | c.*34C= (n.*34C=) n.2600C= | |
| 5 | g.134606916G>T | CA2675321734 | SAR1B | c.*34C>A (n.*34C>A) n.2600C>A | gnomAD v4 |
| 5 | g.134606917A= | CA1584149869 | SAR1B | c.*33T= (n.*33T=) n.2599T= | |
| 5 | g.134606917A>G | CA1584149870 | SAR1B | c.*33T>C (n.*33T>C) n.2599T>C | dbSNP |
| 5 | g.134606918A= | CA1584149871 | SAR1B | c.*32T= (n.*32T=) n.2598T= | |
| 5 | g.134606918A>G | CA127966597 | SAR1B | c.*32T>C (n.*32T>C) n.2598T>C | dbSNP |
| 5 | g.134606919C>A | CA1584149873 | SAR1B | c.*31G>T (n.*31G>T) n.2597G>T | dbSNP |
| 5 | g.134606919C= | CA1584149872 | SAR1B | c.*31G= (n.*31G=) n.2597G= | |
| 5 | g.134606919C>G | CA2578412449 | SAR1B | c.*31G>C (n.*31G>C) n.2597G>C | gnomAD v4 |
| 5 | g.134606919C>T | CA1081776046 | SAR1B | c.*31G>A (n.*31G>A) n.2597G>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.134606920G>A | CA3414387 | SAR1B | c.*30C>T (n.*30C>T) n.2596C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.134606920G= | CA1584149874 | SAR1B | c.*30C= (n.*30C=) n.2596C= | |
| 5 | g.134606920G>T | CA3414388 | SAR1B | c.*30C>A (n.*30C>A) n.2596C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.134606921T>A | CA2578412450 | SAR1B | c.*29A>T (n.*29A>T) n.2595A>T | |
| 5 | g.134606921T>C | CA3414389 | SAR1B | c.*29A>G (n.*29A>G) n.2595A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.134606921T>G | CA2675321735 | SAR1B | c.*29A>C (n.*29A>C) n.2595A>C | gnomAD v4 |
| 5 | g.134606921T= | CA1584149875 | SAR1B | c.*29A= (n.*29A=) n.2595A= | |
| 5 | g.134606922T>C | CA2675321736 | SAR1B | c.*28A>G (n.*28A>G) n.2594A>G | gnomAD v4 |
| 5 | g.134606922T>G | CA2578412451 | SAR1B | c.*28A>C (n.*28A>C) n.2594A>C | gnomAD v4 |
| 5 | g.134606925G>T | CA2578412452 | SAR1B | c.*25C>A (n.*25C>A) n.2591C>A | gnomAD v4 |
| 5 | g.134606926A= | CA1584149876 | SAR1B | c.*24T= (n.*24T=) n.2590T= | |
| 5 | g.134606926A>C | CA1584149877 | SAR1B | c.*24T>G (n.*24T>G) n.2590T>G | dbSNP gnomAD v4 |
| 5 | g.134606926A>G | CA804207772 | SAR1B | c.*24T>C (n.*24T>C) n.2590T>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.134606926A>T | CA2675321737 | SAR1B | c.*24T>A (n.*24T>A) n.2590T>A | gnomAD v4 |
| 5 | g.134606927C>A | CA2675321738 | SAR1B | c.*23G>T (n.*23G>T) n.2589G>T | gnomAD v4 |
| 5 | g.134606927C>T | CA2675321739 | SAR1B | c.*23G>A (n.*23G>A) n.2589G>A | gnomAD v4 |
| 5 | g.134606928C>A | CA2675321740 | SAR1B | c.*22G>T (n.*22G>T) n.2588G>T | gnomAD v4 |
| 5 | g.134606928C= | CA1584149878 | SAR1B | c.*22G= (n.*22G=) n.2588G= | |
| 5 | g.134606928C>G | CA1081776052 | SAR1B | c.*22G>C (n.*22G>C) n.2588G>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.134606928C>T | CA2768492741 | SAR1B | c.*22G>A (n.*22G>A) n.2588G>A | |
| 5 | g.134606928_134606929delinsCT | CA1584149879 | SAR1B | c.*21_*22delinsAG (n.*21_*22delinsAG) n.2587_2588delinsAG | |
| 5 | g.134606929del | CA1584149881 | SAR1B | c.*21del (n.*21del) n.2587del | dbSNP |
| 5 | g.134606929T>C | CA3414390 | SAR1B | c.*21A>G (n.*21A>G) n.2587A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.134606929T= | CA1584149880 | SAR1B | c.*21A= (n.*21A=) n.2587A= | |
| 5 | g.134606930G>A | CA2675321741 | SAR1B | c.*20C>T (n.*20C>T) n.2586C>T | gnomAD v4 |
| 5 | g.134606930G>T | CA2578412454 | SAR1B | c.*20C>A (n.*20C>A) n.2586C>A | gnomAD v4 |
| 5 | g.134606931del | CA2578412453 | SAR1B | c.*20del (n.*20del) n.2586del | gnomAD v4 |
| 5 | g.134606931G>T | CA2675321742 | SAR1B | c.*19C>A (n.*19C>A) n.2585C>A | gnomAD v4 |
| 5 | g.134606933A= | CA1584149882 | SAR1B | c.*17T= (n.*17T=) n.2583T= | |
| 5 | g.134606933A>G | CA3414391 | SAR1B | c.*17T>C (n.*17T>C) n.2583T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.134606934C>A | CA127966610 | SAR1B | c.*16G>T (n.*16G>T) n.2582G>T | dbSNP gnomAD v4 |
| 5 | g.134606934C= | CA1584149883 | SAR1B | c.*16G= (n.*16G=) n.2582G= | |
| 5 | g.134606935C>G | CA2768492742 | SAR1B | c.*15G>C (n.*15G>C) n.2581G>C | |
| 5 | g.134606936A>G | CA2675321743 | SAR1B | c.*14T>C (n.*14T>C) n.2580T>C | gnomAD v4 |
| 5 | g.134606937A= | CA1584149884 | SAR1B | c.*13T= (n.*13T=) n.2579T= | |
| 5 | g.134606937A>G | CA804207778 | SAR1B | c.*13T>C (n.*13T>C) n.2579T>C | dbSNP gnomAD v4 |
| 5 | g.134606938T>A | CA2675321744 | SAR1B | c.*12A>T (n.*12A>T) n.2578A>T | gnomAD v4 |
| 5 | g.134606938T>C | CA2675321745 | SAR1B | c.*12A>G (n.*12A>G) n.2578A>G | gnomAD v4 |
| 5 | g.134606939G>A | CA3414392 | SAR1B | c.*11C>T (n.*11C>T) n.2577C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.134606939G= | CA1584149885 | SAR1B | c.*11C= (n.*11C=) n.2577C= | |
| 5 | g.134606939G>T | CA1584149886 | SAR1B | c.*11C>A (n.*11C>A) n.2577C>A | dbSNP gnomAD v4 |
| 5 | g.134606941G>A | CA3414393 | SAR1B | c.*9C>T (n.*9C>T) n.2575C>T | dbSNP ExAC gnomAD v4 |
| 5 | g.134606941G= | CA1584149887 | SAR1B | c.*9C= (n.*9C=) n.2575C= | |
| 5 | g.134606941G>T | CA2675321746 | SAR1B | c.*9C>A (n.*9C>A) n.2575C>A | gnomAD v4 |
| 5 | g.134606942A>G | CA2675321747 | SAR1B | c.*8T>C (n.*8T>C) n.2574T>C | gnomAD v4 |
| 5 | g.134606943G>A | CA2768492743 | SAR1B | c.*7C>T (n.*7C>T) n.2573C>T | |
| 5 | g.134606943G>T | CA2675321748 | SAR1B | c.*7C>A (n.*7C>A) n.2573C>A | gnomAD v4 |
| 5 | g.134606945T>C | CA3414394 | SAR1B | c.*5A>G (n.*5A>G) n.2571A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.134606945T= | CA1584149888 | SAR1B | c.*5A= (n.*5A=) n.2571A= | |
| 5 | g.134606947G>A | CA2675321749 | SAR1B | c.*3C>T (n.*3C>T) n.2569C>T | gnomAD v4 |
| 5 | g.134606947G>T | CA2675321750 | SAR1B | c.*3C>A (n.*3C>A) n.2569C>A | gnomAD v4 |
| 5 | g.134606948T>C | CA2675321751 | SAR1B | c.*2A>G (n.*2A>G) n.2568A>G | gnomAD v4 |
| 5 | g.134606949G>A | CA2675321752 | SAR1B | c.*1C>T (n.*1C>T) n.2567C>T | gnomAD v4 |
| 5 | g.134606949G>T | CA2675321753 | SAR1B | c.*1C>A (n.*1C>A) n.2567C>A | gnomAD v4 |
| 5 | g.134606950T>A | CA360999271 | SAR1B | c.597A>T (p.Ter199Tyr) c.393A>T (p.Ter131Tyr) n.2566A>T | |
| 5 | g.134606950T>C | CA446505164 | SAR1B | c.597A>G (p.Ter199=) c.393A>G (p.Ter131=) n.2566A>G | |
| 5 | g.134606950T>G | CA360999275 | SAR1B | c.597A>C (p.Ter199Tyr) c.393A>C (p.Ter131Tyr) n.2566A>C | |
| 5 | g.134606951T>A | CA360999278 | SAR1B | c.596A>T (p.Ter199Leu) c.392A>T (p.Ter131Leu) n.2565A>T | |
| 5 | g.134606951T>C | CA446505168 | SAR1B | c.596A>G (p.Ter199=) c.392A>G (p.Ter131=) n.2565A>G | |
| 5 | g.134606951T>G | CA360999280 | SAR1B | c.596A>C (p.Ter199Ser) c.392A>C (p.Ter131Ser) n.2565A>C | |
| 5 | g.134606952A>C | CA360999283 | SAR1B | c.595T>G (p.Ter199Glu) c.391T>G (p.Ter131Glu) n.2564T>G | |
| 5 | g.134606952A>G | CA360999290 | SAR1B | c.595T>C (p.Ter199Gln) c.391T>C (p.Ter131Gln) n.2564T>C | |
| 5 | g.134606952A>T | CA360999292 | SAR1B | c.595T>A (p.Ter199Lys) c.391T>A (p.Ter131Lys) n.2564T>A | |
| 5 | g.134606953A= | CA1584149889 | SAR1B | c.594T= (p.Asp198=) c.390T= (p.Asp130=) n.2563T= | |
| 5 | g.134606953A>C | CA3414395 | SAR1B | c.594T>G (p.Asp198Glu) c.390T>G (p.Asp130Glu) n.2563T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.134606953A>G | CA446505173 | SAR1B | c.594T>C (p.Asp198=) c.390T>C (p.Asp130=) n.2563T>C | |
| 5 | g.134606953A>T | CA360999296 | SAR1B | c.594T>A (p.Asp198Glu) c.390T>A (p.Asp130Glu) n.2563T>A | |
| 5 | g.134606954T>A | CA360999300 | SAR1B | c.593A>T (p.Asp198Val) c.389A>T (p.Asp130Val) n.2562A>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.134606954T>C | CA360999301 | SAR1B | c.593A>G (p.Asp198Gly) c.389A>G (p.Asp130Gly) n.2562A>G | |
| 5 | g.134606954T>G | CA127966619 | SAR1B | c.593A>C (p.Asp198Ala) c.389A>C (p.Asp130Ala) n.2562A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.134606954T= | CA1584149890 | SAR1B | c.593A= (p.Asp198=) c.389A= (p.Asp130=) n.2562A= | |
| 5 | g.134606955C>A | CA360999314 | SAR1B | c.592G>T (p.Asp198Tyr) c.388G>T (p.Asp130Tyr) n.2561G>T | gnomAD v4 |
| 5 | g.134606955C>G | CA360999313 | SAR1B | c.592G>C (p.Asp198His) c.388G>C (p.Asp130His) n.2561G>C | |
| 5 | g.134606955C>T | CA360999306 | SAR1B | c.592G>A (p.Asp198Asn) c.388G>A (p.Asp130Asn) n.2561G>A | |
| 5 | g.134606956A>C | CA360999315 | SAR1B | c.591T>G (p.Ile197Met) c.387T>G (p.Ile129Met) n.2560T>G | gnomAD v4 |
| 5 | g.134606956A>G | CA446505181 | SAR1B | c.591T>C (p.Ile197=) c.387T>C (p.Ile129=) n.2560T>C | ClinVar dbSNP |
| 5 | g.134606956A>T | CA446505182 | SAR1B | c.591T>A (p.Ile197=) c.387T>A (p.Ile129=) n.2560T>A | |
| 5 | g.134606957A>C | CA360999316 | SAR1B | c.590T>G (p.Ile197Ser) c.386T>G (p.Ile129Ser) n.2559T>G | |
| 5 | g.134606957A>G | CA360999317 | SAR1B | c.590T>C (p.Ile197Thr) c.386T>C (p.Ile129Thr) n.2559T>C | |
| 5 | g.134606957A>T | CA360999318 | SAR1B | c.590T>A (p.Ile197Asn) c.386T>A (p.Ile129Asn) n.2559T>A | |
| 5 | g.134606958T>A | CA360999322 | SAR1B | c.589A>T (p.Ile197Phe) c.385A>T (p.Ile129Phe) n.2558A>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.134606958T>C | CA360999324 | SAR1B | c.589A>G (p.Ile197Val) c.385A>G (p.Ile129Val) n.2558A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.134606958T>G | CA360999327 | SAR1B | c.589A>C (p.Ile197Leu) c.385A>C (p.Ile129Leu) n.2558A>C | |
| 5 | g.134606958T= | CA1584149891 | SAR1B | c.589A= (p.Ile197=) c.385A= (p.Ile129=) n.2558A= | |
| 5 | g.134606959G>A | CA3414396 | SAR1B | c.588C>T (p.Tyr196=) c.384C>T (p.Tyr128=) n.2557C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.134606959G>C | CA360999330 | SAR1B | c.588C>G (p.Tyr196Ter) c.384C>G (p.Tyr128Ter) n.2557C>G | |
| 5 | g.134606959G= | CA1584149892 | SAR1B | c.588C= (p.Tyr196=) c.384C= (p.Tyr128=) n.2557C= | |
| 5 | g.134606959G>T | CA360999332 | SAR1B | c.588C>A (p.Tyr196Ter) c.384C>A (p.Tyr128Ter) n.2557C>A | |
| 5 | g.134606960T>A | CA360999335 | SAR1B | c.587A>T (p.Tyr196Phe) c.383A>T (p.Tyr128Phe) n.2556A>T | |
| 5 | g.134606960T>C | CA360999338 | SAR1B | c.587A>G (p.Tyr196Cys) c.383A>G (p.Tyr128Cys) n.2556A>G | |
| 5 | g.134606960T>G | CA360999341 | SAR1B | c.587A>C (p.Tyr196Ser) c.383A>C (p.Tyr128Ser) n.2556A>C | |
| 5 | g.134606960_134606961insTAGCTTTCT | CA2522140384 | SAR1B | c.587_588insGAAAGCTAA (p.Tyr196Ter) c.383_384insGAAAGCTAA (p.Tyr128Ter) n.2556_2557insGAAAGCTAA | |
| 5 | g.134606961A= | CA1584149893 | SAR1B | c.586T= (p.Tyr196=) c.382T= (p.Tyr128=) n.2555T= | |
| 5 | g.134606961A>C | CA360999346 | SAR1B | c.586T>G (p.Tyr196Asp) c.382T>G (p.Tyr128Asp) n.2555T>G | |
| 5 | g.134606961A>G | CA360999355 | SAR1B | c.586T>C (p.Tyr196His) c.382T>C (p.Tyr128His) n.2555T>C | |
| 5 | g.134606961A>T | CA360999343 | SAR1B | c.586T>A (p.Tyr196Asn) c.382T>A (p.Tyr128Asn) n.2555T>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.134606962C>A | CA360999361 | SAR1B | c.585G>T (p.Gln195His) c.381G>T (p.Gln127His) n.2554G>T | |
| 5 | g.134606962C>G | CA360999363 | SAR1B | c.585G>C (p.Gln195His) c.381G>C (p.Gln127His) n.2554G>C | gnomAD v4 |
| 5 | g.134606962C>T | CA446505200 | SAR1B | c.585G>A (p.Gln195=) c.381G>A (p.Gln127=) n.2554G>A | gnomAD v4 |
| 5 | g.134606963_134606967del | CA2675321754 | SAR1B | c.581_585del (p.Ala194ValfsTer3) c.377_381del (p.Ala126ValfsTer3) n.2550_2554del | gnomAD v4 |
| 5 | g.134606963T>A | CA360999365 | SAR1B | c.584A>T (p.Gln195Leu) c.380A>T (p.Gln127Leu) n.2553A>T | |
| 5 | g.134606963T>C | CA360999366 | SAR1B | c.584A>G (p.Gln195Arg) c.380A>G (p.Gln127Arg) n.2553A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.134606963T>G | CA360999368 | SAR1B | c.584A>C (p.Gln195Pro) c.380A>C (p.Gln127Pro) n.2553A>C | |
| 5 | g.134606963T= | CA1584149894 | SAR1B | c.584A= (p.Gln195=) c.380A= (p.Gln127=) n.2553A= | |
| 5 | g.134606964G>A | CA360999370 | SAR1B | c.583C>T (p.Gln195Ter) c.379C>T (p.Gln127Ter) n.2552C>T | gnomAD v4 |
| 5 | g.134606964G>C | CA360999373 | SAR1B | c.583C>G (p.Gln195Glu) c.379C>G (p.Gln127Glu) n.2552C>G | |
| 5 | g.134606964G>T | CA360999375 | SAR1B | c.583C>A (p.Gln195Lys) c.379C>A (p.Gln127Lys) n.2552C>A | gnomAD v4 |
| 5 | g.134606965T>A | CA446505206 | SAR1B | c.582A>T (p.Ala194=) c.378A>T (p.Ala126=) n.2551A>T | |
| 5 | g.134606965T>C | CA446505210 | SAR1B | c.582A>G (p.Ala194=) c.378A>G (p.Ala126=) n.2551A>G | |
| 5 | g.134606965T>G | CA446505208 | SAR1B | c.582A>C (p.Ala194=) c.378A>C (p.Ala126=) n.2551A>C | |
| 5 | g.134606966G>A | CA360999376 | SAR1B | c.581C>T (p.Ala194Val) c.377C>T (p.Ala126Val) n.2550C>T | dbSNP |
| 5 | g.134606966G>C | CA360999379 | SAR1B | c.581C>G (p.Ala194Gly) c.377C>G (p.Ala126Gly) n.2550C>G | |
| 5 | g.134606966G= | CA1584149895 | SAR1B | c.581C= (p.Ala194=) c.377C= (p.Ala126=) n.2550C= | |
| 5 | g.134606966G>T | CA360999382 | SAR1B | c.581C>A (p.Ala194Glu) c.377C>A (p.Ala126Glu) n.2550C>A | |
| 5 | g.134606967C>A | CA360999390 | SAR1B | c.580G>T (p.Ala194Ser) c.376G>T (p.Ala126Ser) n.2549G>T | ClinVar |
| 5 | g.134606967C>G | CA360999388 | SAR1B | c.580G>C (p.Ala194Pro) c.376G>C (p.Ala126Pro) n.2549G>C | |
| 5 | g.134606967C>T | CA360999386 | SAR1B | c.580G>A (p.Ala194Thr) c.376G>A (p.Ala126Thr) n.2549G>A | |
| 5 | g.134606968C>A | CA360999393 | SAR1B | c.579G>T (p.Met193Ile) c.375G>T (p.Met125Ile) n.2548G>T | |
| 5 | g.134606968C>G | CA360999395 | SAR1B | c.579G>C (p.Met193Ile) c.375G>C (p.Met125Ile) n.2548G>C | gnomAD v4 |
| 5 | g.134606968C>T | CA360999396 | SAR1B | c.579G>A (p.Met193Ile) c.375G>A (p.Met125Ile) n.2548G>A | |
| 5 | g.134606969A= | CA1584149896 | SAR1B | c.578T= (p.Met193=) c.374T= (p.Met125=) n.2547T= | |
| 5 | g.134606969A>C | CA360999401 | SAR1B | c.578T>G (p.Met193Arg) c.374T>G (p.Met125Arg) n.2547T>G | |
| 5 | g.134606969A>G | CA360999405 | SAR1B | c.578T>C (p.Met193Thr) c.374T>C (p.Met125Thr) n.2547T>C | dbSNP gnomAD v4 |
| 5 | g.134606969A>T | CA360999409 | SAR1B | c.578T>A (p.Met193Lys) c.374T>A (p.Met125Lys) n.2547T>A | |
| 5 | g.134606970T>A | CA360999412 | SAR1B | c.577A>T (p.Met193Leu) c.373A>T (p.Met125Leu) n.2546A>T | |
| 5 | g.134606970T>C | CA3414398 | SAR1B | c.577A>G (p.Met193Val) c.373A>G (p.Met125Val) n.2546A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.134606970T>G | CA3414397 | SAR1B | c.577A>C (p.Met193Leu) c.373A>C (p.Met125Leu) n.2546A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.134606970T= | CA1584149897 | SAR1B | c.577A= (p.Met193=) c.373A= (p.Met125=) n.2546A= | |
| 5 | g.134606971C>A | CA360999413 | SAR1B | c.576G>T (p.Trp192Cys) c.372G>T (p.Trp124Cys) n.2545G>T | |
| 5 | g.134606971C>G | CA360999414 | SAR1B | c.576G>C (p.Trp192Cys) c.372G>C (p.Trp124Cys) n.2545G>C | |
| 5 | g.134606971C>T | CA360999415 | SAR1B | c.576G>A (p.Trp192Ter) c.372G>A (p.Trp124Ter) n.2545G>A | |
| 5 | g.134606972C>A | CA360999418 | SAR1B | c.575G>T (p.Trp192Leu) c.371G>T (p.Trp124Leu) n.2544G>T | |
| 5 | g.134606972C>G | CA360999419 | SAR1B | c.575G>C (p.Trp192Ser) c.371G>C (p.Trp124Ser) n.2544G>C | |
| 5 | g.134606972C>T | CA360999416 | SAR1B | c.575G>A (p.Trp192Ter) c.371G>A (p.Trp124Ter) n.2544G>A | |
| 5 | g.134606973A= | CA1584149898 | SAR1B | c.574T= (p.Trp192=) c.370T= (p.Trp124=) n.2543T= | |
| 5 | g.134606973A>C | CA360999423 | SAR1B | c.574T>G (p.Trp192Gly) c.370T>G (p.Trp124Gly) n.2543T>G | |
| 5 | g.134606973A>G | CA360999421 | SAR1B | c.574T>C (p.Trp192Arg) c.370T>C (p.Trp124Arg) n.2543T>C | dbSNP |
| 5 | g.134606973A>T | CA360999422 | SAR1B | c.574T>A (p.Trp192Arg) c.370T>A (p.Trp124Arg) n.2543T>A | |
| 5 | g.134606974G>A | CA446505232 | SAR1B | c.573C>T (p.Arg191=) c.369C>T (p.Arg123=) n.2542C>T | gnomAD v4 |
| 5 | g.134606974G>C | CA446505234 | SAR1B | c.573C>G (p.Arg191=) c.369C>G (p.Arg123=) n.2542C>G | |
| 5 | g.134606974G>T | CA446505235 | SAR1B | c.573C>A (p.Arg191=) c.369C>A (p.Arg123=) n.2542C>A | |
| 5 | g.134606975C>A | CA360999425 | SAR1B | c.572G>T (p.Arg191Leu) c.368G>T (p.Arg123Leu) n.2541G>T | dbSNP |
| 5 | g.134606975C= | CA1584149899 | SAR1B | c.572G= (p.Arg191=) c.368G= (p.Arg123=) n.2541G= | |
| 5 | g.134606975C>G | CA360999426 | SAR1B | c.572G>C (p.Arg191Pro) c.368G>C (p.Arg123Pro) n.2541G>C | |
| 5 | g.134606975C>T | CA3414399 | SAR1B | c.572G>A (p.Arg191His) c.368G>A (p.Arg123His) n.2541G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.134606976G>A | CA3414400 | SAR1B | c.571C>T (p.Arg191Cys) c.367C>T (p.Arg123Cys) n.2540C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.134606976G>C | CA360999431 | SAR1B | c.571C>G (p.Arg191Gly) c.367C>G (p.Arg123Gly) n.2540C>G | |
| 5 | g.134606976G= | CA1584149900 | SAR1B | c.571C= (p.Arg191=) c.367C= (p.Arg123=) n.2540C= | |
| 5 | g.134606976G>T | CA360999434 | SAR1B | c.571C>A (p.Arg191Ser) c.367C>A (p.Arg123Ser) n.2540C>A | |
| 5 | g.134606977G>A | CA446505237 | SAR1B | c.570C>T (p.Phe190=) c.366C>T (p.Phe122=) n.2539C>T | gnomAD v4 |
| 5 | g.134606977G>C | CA360999437 | SAR1B | c.570C>G (p.Phe190Leu) c.366C>G (p.Phe122Leu) n.2539C>G | |
| 5 | g.134606977G>T | CA360999441 | SAR1B | c.570C>A (p.Phe190Leu) c.366C>A (p.Phe122Leu) n.2539C>A | |
| 5 | g.134606978A>C | CA360999443 | SAR1B | c.569T>G (p.Phe190Cys) c.365T>G (p.Phe122Cys) n.2538T>G | |
| 5 | g.134606978A>G | CA360999444 | SAR1B | c.569T>C (p.Phe190Ser) c.365T>C (p.Phe122Ser) n.2538T>C | |
| 5 | g.134606978A>T | CA360999446 | SAR1B | c.569T>A (p.Phe190Tyr) c.365T>A (p.Phe122Tyr) n.2538T>A | |
| 5 | g.134606979A>C | CA360999447 | SAR1B | c.568T>G (p.Phe190Val) c.364T>G (p.Phe122Val) n.2537T>G | |
| 5 | g.134606979A>G | CA360999450 | SAR1B | c.568T>C (p.Phe190Leu) c.364T>C (p.Phe122Leu) n.2537T>C | |
| 5 | g.134606979A>T | CA360999448 | SAR1B | c.568T>A (p.Phe190Ile) c.364T>A (p.Phe122Ile) n.2537T>A | |
| 5 | g.134606980G>A | CA446505245 | SAR1B | c.567C>T (p.Gly189=) c.363C>T (p.Gly121=) n.2536C>T | dbSNP |
| 5 | g.134606980G>C | CA446505247 | SAR1B | c.567C>G (p.Gly189=) c.363C>G (p.Gly121=) n.2536C>G | |
| 5 | g.134606980G= | CA1584149901 | SAR1B | c.567C= (p.Gly189=) c.363C= (p.Gly121=) n.2536C= | |
| 5 | g.134606980G>T | CA446505249 | SAR1B | c.567C>A (p.Gly189=) c.363C>A (p.Gly121=) n.2536C>A | |
| 5 | g.134606981C>A | CA360999453 | SAR1B | c.566G>T (p.Gly189Val) c.362G>T (p.Gly121Val) n.2535G>T | |
| 5 | g.134606981C>G | CA360999454 | SAR1B | c.566G>C (p.Gly189Ala) c.362G>C (p.Gly121Ala) n.2535G>C | gnomAD v4 |
| 5 | g.134606981C>T | CA360999457 | SAR1B | c.566G>A (p.Gly189Asp) c.362G>A (p.Gly121Asp) n.2535G>A | gnomAD v4 |
| 5 | g.134606982C>A | CA360999461 | SAR1B | c.565G>T (p.Gly189Cys) c.361G>T (p.Gly121Cys) n.2534G>T | |
| 5 | g.134606982C>G | CA360999463 | SAR1B | c.565G>C (p.Gly189Arg) c.361G>C (p.Gly121Arg) n.2534G>C | |
| 5 | g.134606982C>T | CA360999464 | SAR1B | c.565G>A (p.Gly189Ser) c.361G>A (p.Gly121Ser) n.2534G>A | |
| 5 | g.134606983T>A | CA360999468 | SAR1B | c.564A>T (p.Glu188Asp) c.360A>T (p.Glu120Asp) n.2533A>T | |
| 5 | g.134606983T>C | CA446505255 | SAR1B | c.564A>G (p.Glu188=) c.360A>G (p.Glu120=) n.2533A>G | |
| 5 | g.134606983T>G | CA360999470 | SAR1B | c.564A>C (p.Glu188Asp) c.360A>C (p.Glu120Asp) n.2533A>C | |
| 5 | g.134606984T>A | CA360999474 | SAR1B | c.563A>T (p.Glu188Val) c.359A>T (p.Glu120Val) n.2532A>T | |
| 5 | g.134606984T>C | CA360999476 | SAR1B | c.563A>G (p.Glu188Gly) c.359A>G (p.Glu120Gly) n.2532A>G | |
| 5 | g.134606984T>G | CA360999478 | SAR1B | c.563A>C (p.Glu188Ala) c.359A>C (p.Glu120Ala) n.2532A>C | |
| 5 | g.134606985C>A | CA360999482 | SAR1B | c.562G>T (p.Glu188Ter) c.358G>T (p.Glu120Ter) n.2531G>T | |
| 5 | g.134606985C>G | CA360999483 | SAR1B | c.562G>C (p.Glu188Gln) c.358G>C (p.Glu120Gln) n.2531G>C | |
| 5 | g.134606985C>T | CA360999481 | SAR1B | c.562G>A (p.Glu188Lys) c.358G>A (p.Glu120Lys) n.2531G>A | |
| 5 | g.134606986T>A | CA446505262 | SAR1B | c.561A>T (p.Gly187=) c.357A>T (p.Gly119=) n.2530A>T | |
| 5 | g.134606986T>C | CA446505263 | SAR1B | c.561A>G (p.Gly187=) c.357A>G (p.Gly119=) n.2530A>G | |
| 5 | g.134606986T>G | CA446505265 | SAR1B | c.561A>C (p.Gly187=) c.357A>C (p.Gly119=) n.2530A>C | |
| 5 | g.134606987C>A | CA360999484 | SAR1B | c.560G>T (p.Gly187Val) c.356G>T (p.Gly119Val) n.2529G>T c.356G>T | |
| 5 | g.134606987C= | CA1584149902 | SAR1B | c.560G= (p.Gly187=) c.356G= (p.Gly119=) n.2529G= c.356G= | |
| 5 | g.134606987C>G | CA360999485 | SAR1B | c.560G>C (p.Gly187Ala) c.356G>C (p.Gly119Ala) n.2529G>C c.356G>C | |
| 5 | g.134606987C>T | CA3414401 | SAR1B | c.560G>A (p.Gly187Glu) c.356G>A (p.Gly119Glu) n.2529G>A c.356G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.134606988dup | CA2675321755 | SAR1B | c.560dup (p.Glu188ArgfsTer11) c.356dup (p.Glu120ArgfsTer11) n.2529dup | gnomAD v4 |
| 5 | g.134606988C>A | CA360999488 | SAR1B | c.559G>T (p.Gly187Ter) c.355G>T (p.Gly119Ter) n.2528G>T c.355G>T | |
| 5 | g.134606988C= | CA1584149903 | SAR1B | c.559G= (p.Gly187=) c.355G= (p.Gly119=) n.2528G= c.355G= | |
| 5 | g.134606988C>G | CA360999490 | SAR1B | c.559G>C (p.Gly187Arg) c.355G>C (p.Gly119Arg) n.2528G>C c.355G>C | |
| 5 | g.134606988C>T | CA3414402 | SAR1B | c.559G>A (p.Gly187Arg) c.355G>A (p.Gly119Arg) n.2528G>A c.355G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.134606989G>A | CA127966634 | SAR1B | c.558C>T (p.Tyr186=) c.354C>T (p.Tyr118=) n.2527C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.134606989G>C | CA360999497 | SAR1B | c.558C>G (p.Tyr186Ter) c.354C>G (p.Tyr118Ter) n.2527C>G | |
| 5 | g.134606989G= | CA1584149904 | SAR1B | c.558C= (p.Tyr186=) c.354C= (p.Tyr118=) n.2527C= | |
| 5 | g.134606989G>T | CA360999495 | SAR1B | c.558C>A (p.Tyr186Ter) c.354C>A (p.Tyr118Ter) n.2527C>A | |
| 5 | g.134606989_134606992dup | CA913185009 | SAR1B | c.555_558dup (p.Gly187LeufsTer13) c.351_354dup (p.Gly119LeufsTer13) n.2524_2527dup c.351_354dup | ClinVar dbSNP |
| 5 | g.134606990T>A | CA360999499 | SAR1B | c.557A>T (p.Tyr186Phe) c.353A>T (p.Tyr118Phe) c.*280A>T (n.*280A>T) n.2526A>T | |
| 5 | g.134606990T>C | CA360999500 | SAR1B | c.557A>G (p.Tyr186Cys) c.353A>G (p.Tyr118Cys) c.*280A>G (n.*280A>G) n.2526A>G | |
| 5 | g.134606990T>G | CA360999503 | SAR1B | c.557A>C (p.Tyr186Ser) c.353A>C (p.Tyr118Ser) c.*280A>C (n.*280A>C) n.2526A>C | |
| 5 | g.134606991A>C | CA360999506 | SAR1B | c.556T>G (p.Tyr186Asp) c.352T>G (p.Tyr118Asp) c.*279T>G (n.*279T>G) n.2525T>G | |
| 5 | g.134606991A>G | CA360999507 | SAR1B | c.556T>C (p.Tyr186His) c.352T>C (p.Tyr118His) c.*279T>C (n.*279T>C) n.2525T>C | |
| 5 | g.134606991A>T | CA360999508 | SAR1B | c.556T>A (p.Tyr186Asn) c.352T>A (p.Tyr118Asn) c.*279T>A (n.*279T>A) n.2525T>A | |
| 5 | g.134606992A>C | CA446505278 | SAR1B | c.555T>G (p.Gly185=) c.351T>G (p.Gly117=) c.*278T>G (n.*278T>G) n.2524T>G | |
| 5 | g.134606992A>G | CA446505280 | SAR1B | c.555T>C (p.Gly185=) c.351T>C (p.Gly117=) c.*278T>C (n.*278T>C) n.2524T>C | |
| 5 | g.134606992A>T | CA446505282 | SAR1B | c.555T>A (p.Gly185=) c.351T>A (p.Gly117=) c.*278T>A (n.*278T>A) n.2524T>A | |
| 5 | g.134606993C>A | CA115880 | SAR1B | c.554G>T (p.Gly185Val) c.350G>T (p.Gly117Val) c.*277G>T (n.*277G>T) n.2523G>T | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.134606993C= | CA1584149905 | SAR1B | c.554G= (p.Gly185=) c.350G= (p.Gly117=) c.*277G= (n.*277G=) n.2523G= | |
| 5 | g.134606993C>G | CA360999514 | SAR1B | c.554G>C (p.Gly185Ala) c.350G>C (p.Gly117Ala) c.*277G>C (n.*277G>C) n.2523G>C | |
| 5 | g.134606993C>T | CA360999511 | SAR1B | c.554G>A (p.Gly185Asp) c.350G>A (p.Gly117Asp) c.*277G>A (n.*277G>A) n.2523G>A | |
| 5 | g.134606994C>A | CA360999520 | SAR1B | c.553G>T (p.Gly185Cys) c.349G>T (p.Gly117Cys) c.*276G>T (n.*276G>T) n.2522G>T | |
| 5 | g.134606994C>G | CA360999522 | SAR1B | c.553G>C (p.Gly185Arg) c.349G>C (p.Gly117Arg) c.*276G>C (n.*276G>C) n.2522G>C | |
| 5 | g.134606994C>T | CA360999523 | SAR1B | c.553G>A (p.Gly185Ser) c.349G>A (p.Gly117Ser) c.*276G>A (n.*276G>A) n.2522G>A | gnomAD v4 |
| 5 | g.134606997_134607001del | CA2675321756 | SAR1B | c.549_553del (p.Gln184LeufsTer13) c.345_349del (p.Gln116LeufsTer13) c.*272_*276del (n.*272_*276del) n.2518_2522del c.345_349del (p.Gln116LeufsTer?) | gnomAD v4 |
| 5 | g.134606995T>A | CA360999526 | SAR1B | c.552A>T (p.Gln184His) c.348A>T (p.Gln116His) c.*275A>T (n.*275A>T) n.2521A>T | |
| 5 | g.134606995T>C | CA446505288 | SAR1B | c.552A>G (p.Gln184=) c.348A>G (p.Gln116=) c.*275A>G (n.*275A>G) n.2521A>G | |
| 5 | g.134606995T>G | CA360999527 | SAR1B | c.552A>C (p.Gln184His) c.348A>C (p.Gln116His) c.*275A>C (n.*275A>C) n.2521A>C | |
| 5 | g.134606996T>A | CA360999530 | SAR1B | c.551A>T (p.Gln184Leu) c.347A>T (p.Gln116Leu) c.*274A>T (n.*274A>T) n.2520A>T | |
| 5 | g.134606996T>C | CA360999531 | SAR1B | c.551A>G (p.Gln184Arg) c.347A>G (p.Gln116Arg) c.*274A>G (n.*274A>G) n.2520A>G | dbSNP gnomAD v2 |
| 5 | g.134606996T>G | CA360999534 | SAR1B | c.551A>C (p.Gln184Pro) c.347A>C (p.Gln116Pro) c.*274A>C (n.*274A>C) n.2520A>C | |
| 5 | g.134606996T= | CA1584149906 | SAR1B | c.551A= (p.Gln184=) c.347A= (p.Gln116=) c.*274A= (n.*274A=) n.2520A= | |
| 5 | g.134606997G>A | CA360999536 | SAR1B | c.550C>T (p.Gln184Ter) c.346C>T (p.Gln116Ter) c.*273C>T (n.*273C>T) n.2519C>T | |
| 5 | g.134606997G>C | CA360999537 | SAR1B | c.550C>G (p.Gln184Glu) c.346C>G (p.Gln116Glu) c.*273C>G (n.*273C>G) n.2519C>G | |
| 5 | g.134606997G>T | CA360999539 | SAR1B | c.550C>A (p.Gln184Lys) c.346C>A (p.Gln116Lys) c.*273C>A (n.*273C>A) n.2519C>A | |
| 5 | g.134606998del | CA2578412455 | SAR1B | c.549del (p.Arg183SerfsTer?) c.345del (p.Arg115SerfsTer?) c.*272del (n.*272del) n.2518del | |
| 5 | g.134606998T>A | CA360999542 | SAR1B | c.549A>T (p.Arg183Ser) c.345A>T (p.Arg115Ser) c.*272A>T (n.*272A>T) n.2518A>T | |
| 5 | g.134606998T>C | CA446505295 | SAR1B | c.549A>G (p.Arg183=) c.345A>G (p.Arg115=) c.*272A>G (n.*272A>G) n.2518A>G | ClinVar |
| 5 | g.134606998T>G | CA3414403 | SAR1B | c.549A>C (p.Arg183Ser) c.345A>C (p.Arg115Ser) c.*272A>C (n.*272A>C) n.2518A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.134606998T= | CA1584149907 | SAR1B | c.549A= (p.Arg183=) c.345A= (p.Arg115=) c.*272A= (n.*272A=) n.2518A= | |
| 5 | g.134606999C>A | CA360999561 | SAR1B | c.548G>T (p.Arg183Ile) c.344G>T (p.Arg115Ile) c.*271G>T (n.*271G>T) n.2517G>T | |
| 5 | g.134606999C>G | CA360999559 | SAR1B | c.548G>C (p.Arg183Thr) c.344G>C (p.Arg115Thr) c.*271G>C (n.*271G>C) n.2517G>C | gnomAD v4 |
| 5 | g.134606999C>T | CA360999548 | SAR1B | c.548G>A (p.Arg183Lys) c.344G>A (p.Arg115Lys) c.*271G>A (n.*271G>A) n.2517G>A | gnomAD v4 |
| 5 | g.134607000T>A | CA360999564 | SAR1B | c.547A>T (p.Arg183Ter) c.343A>T (p.Arg115Ter) c.*270A>T (n.*270A>T) n.2516A>T | |
| 5 | g.134607000T>C | CA360999562 | SAR1B | c.547A>G (p.Arg183Gly) c.343A>G (p.Arg115Gly) c.*270A>G (n.*270A>G) n.2516A>G | |
| 5 | g.134607000T>G | CA446505301 | SAR1B | c.547A>C (p.Arg183=) c.343A>C (p.Arg115=) c.*270A>C (n.*270A>C) n.2516A>C | |
| 5 | g.134607001T>A | CA360999570 | SAR1B | c.546A>T (p.Lys182Asn) c.342A>T (p.Lys114Asn) c.*269A>T (n.*269A>T) n.2515A>T | |
| 5 | g.134607001T>C | CA446505304 | SAR1B | c.546A>G (p.Lys182=) c.342A>G (p.Lys114=) c.*269A>G (n.*269A>G) n.2515A>G | |
| 5 | g.134607001T>G | CA360999568 | SAR1B | c.546A>C (p.Lys182Asn) c.342A>C (p.Lys114Asn) c.*269A>C (n.*269A>C) n.2515A>C | dbSNP |
| 5 | g.134607001T= | CA1584149908 | SAR1B | c.546A= (p.Lys182=) c.342A= (p.Lys114=) c.*269A= (n.*269A=) n.2515A= | |
| 5 | g.134607002T>A | CA360999572 | SAR1B | c.545A>T (p.Lys182Ile) c.341A>T (p.Lys114Ile) c.*268A>T (n.*268A>T) n.2514A>T | |
| 5 | g.134607002T>C | CA360999576 | SAR1B | c.545A>G (p.Lys182Arg) c.341A>G (p.Lys114Arg) c.*268A>G (n.*268A>G) n.2514A>G | gnomAD v4 |
| 5 | g.134607002T>G | CA360999577 | SAR1B | c.545A>C (p.Lys182Thr) c.341A>C (p.Lys114Thr) c.*268A>C (n.*268A>C) n.2514A>C | |
| 5 | g.134607003T>A | CA360999578 | SAR1B | c.544A>T (p.Lys182Ter) c.340A>T (p.Lys114Ter) c.*267A>T (n.*267A>T) n.2513A>T | |
| 5 | g.134607003T>C | CA360999579 | SAR1B | c.544A>G (p.Lys182Glu) c.340A>G (p.Lys114Glu) c.*267A>G (n.*267A>G) n.2513A>G | |
| 5 | g.134607003T>G | CA360999580 | SAR1B | c.544A>C (p.Lys182Gln) c.340A>C (p.Lys114Gln) c.*267A>C (n.*267A>C) n.2513A>C | |
| 5 | g.134607004G>A | CA446505310 | SAR1B | c.543C>T (p.Leu181=) c.339C>T (p.Leu113=) c.*266C>T (n.*266C>T) n.2512C>T | |
| 5 | g.134607004G>C | CA446505311 | SAR1B | c.543C>G (p.Leu181=) c.339C>G (p.Leu113=) c.*266C>G (n.*266C>G) n.2512C>G | |
| 5 | g.134607004G>T | CA446505312 | SAR1B | c.543C>A (p.Leu181=) c.339C>A (p.Leu113=) c.*266C>A (n.*266C>A) n.2512C>A | |
| 5 | g.134607005A>C | CA360999581 | SAR1B | c.542T>G (p.Leu181Arg) c.338T>G (p.Leu113Arg) c.*265T>G (n.*265T>G) n.2511T>G | |
| 5 | g.134607005A>G | CA360999583 | SAR1B | c.542T>C (p.Leu181Pro) c.338T>C (p.Leu113Pro) c.*265T>C (n.*265T>C) n.2511T>C | |
| 5 | g.134607005A>T | CA360999582 | SAR1B | c.542T>A (p.Leu181His) c.338T>A (p.Leu113His) c.*265T>A (n.*265T>A) n.2511T>A | |
| 5 | g.134607005_134607011delinsGGCACAA | CA2695205145 | SAR1B | c.536_542delinsTTGTGCC (p.Ser179_Leu181delinsIleValPro) c.332_338delinsTTGTGCC (p.Ser111_Leu113delinsIleValPro) c.*259_*265delinsTTGTGCC (n.*259_*265delinsTTGTGCC) n.2505_2511delinsTTGTGCC | |
| 5 | g.134607006G>A | CA360999584 | SAR1B | c.541C>T (p.Leu181Phe) c.337C>T (p.Leu113Phe) c.*264C>T (n.*264C>T) n.2510C>T | gnomAD v4 |
| 5 | g.134607006G>C | CA360999585 | SAR1B | c.541C>G (p.Leu181Val) c.337C>G (p.Leu113Val) c.*264C>G (n.*264C>G) n.2510C>G | |
| 5 | g.134607006G>T | CA360999586 | SAR1B | c.541C>A (p.Leu181Ile) c.337C>A (p.Leu113Ile) c.*264C>A (n.*264C>A) n.2510C>A | |
| 5 | g.134607007C>A | CA446505319 | SAR1B | c.540G>T (p.Val180=) c.336G>T (p.Val112=) c.*263G>T (n.*263G>T) n.2509G>T | |
| 5 | g.134607007C= | CA1584149909 | SAR1B | c.540G= (p.Val180=) c.336G= (p.Val112=) c.*263G= (n.*263G=) n.2509G= | |
| 5 | g.134607007C>G | CA127966641 | SAR1B | c.540G>C (p.Val180=) c.336G>C (p.Val112=) c.*263G>C (n.*263G>C) n.2509G>C | dbSNP |
| 5 | g.134607007C>T | CA446505321 | SAR1B | c.540G>A (p.Val180=) c.336G>A (p.Val112=) c.*263G>A (n.*263G>A) n.2509G>A | gnomAD v4 |
| 5 | g.134607008A>C | CA360999592 | SAR1B | c.539T>G (p.Val180Gly) c.335T>G (p.Val112Gly) c.*262T>G (n.*262T>G) n.2508T>G | |
| 5 | g.134607008A>G | CA360999589 | SAR1B | c.539T>C (p.Val180Ala) c.335T>C (p.Val112Ala) c.*262T>C (n.*262T>C) n.2508T>C | gnomAD v4 |
| 5 | g.134607008A>T | CA360999591 | SAR1B | c.539T>A (p.Val180Glu) c.335T>A (p.Val112Glu) c.*262T>A (n.*262T>A) n.2508T>A | |
| 5 | g.134607009C>A | CA360999594 | SAR1B | c.538G>T (p.Val180Leu) c.334G>T (p.Val112Leu) c.*261G>T (n.*261G>T) n.2507G>T | gnomAD v4 |
| 5 | g.134607009C>G | CA360999597 | SAR1B | c.538G>C (p.Val180Leu) c.334G>C (p.Val112Leu) c.*261G>C (n.*261G>C) n.2507G>C | |
| 5 | g.134607009C>T | CA360999598 | SAR1B | c.538G>A (p.Val180Met) c.334G>A (p.Val112Met) c.*261G>A (n.*261G>A) n.2507G>A | gnomAD v4 |
| 5 | g.134607010A= | CA1584149910 | SAR1B | c.537T= (p.Ser179=) c.333T= (p.Ser111=) c.*260T= (n.*260T=) n.2506T= | |
| 5 | g.134607010A>C | CA360999601 | SAR1B | c.537T>G (p.Ser179Arg) c.333T>G (p.Ser111Arg) c.*260T>G (n.*260T>G) n.2506T>G | |
| 5 | g.134607010A>G | CA446505326 | SAR1B | c.537T>C (p.Ser179=) c.333T>C (p.Ser111=) c.*260T>C (n.*260T>C) n.2506T>C | gnomAD v4 |
| 5 | g.134607010A>T | CA115877 | SAR1B | c.537T>A (p.Ser179Arg) c.333T>A (p.Ser111Arg) c.*260T>A (n.*260T>A) n.2506T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.134607011C>A | CA360999603 | SAR1B | c.536G>T (p.Ser179Ile) c.332G>T (p.Ser111Ile) c.*259G>T (n.*259G>T) n.2505G>T | |
| 5 | g.134607011C>G | CA360999604 | SAR1B | c.536G>C (p.Ser179Thr) c.332G>C (p.Ser111Thr) c.*259G>C (n.*259G>C) n.2505G>C | |
| 5 | g.134607011C>T | CA360999605 | SAR1B | c.536G>A (p.Ser179Asn) c.332G>A (p.Ser111Asn) c.*259G>A (n.*259G>A) n.2505G>A | |
| 5 | g.134607012T>A | CA360999606 | SAR1B | c.535A>T (p.Ser179Cys) c.331A>T (p.Ser111Cys) c.*258A>T (n.*258A>T) n.2504A>T | |
| 5 | g.134607012T>C | CA360999607 | SAR1B | c.535A>G (p.Ser179Gly) c.331A>G (p.Ser111Gly) c.*258A>G (n.*258A>G) n.2504A>G | |
| 5 | g.134607012T>G | CA360999608 | SAR1B | c.535A>C (p.Ser179Arg) c.331A>C (p.Ser111Arg) c.*258A>C (n.*258A>C) n.2504A>C |