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 |
|---|---|---|---|---|---|
| 4 | g.54285835A= | CA1458543919 | PDGFRA | c.2440-6A= (n.2440-6A=) c.1720-6A= (n.1720-6A=) c.2515-6A= (n.2515-6A=) c.2479-6A= (n.2479-6A=) | |
| 4 | g.54285835A>C | CA915940600 | PDGFRA | c.2440-6A>C (n.2440-6A>C) c.1720-6A>C (n.1720-6A>C) c.2515-6A>C (n.2515-6A>C) c.2479-6A>C (n.2479-6A>C) | ClinVar |
| 4 | g.54285835A>G | CA915943061 | PDGFRA | c.2440-6A>G (n.2440-6A>G) c.1720-6A>G (n.1720-6A>G) c.2515-6A>G (n.2515-6A>G) c.2479-6A>G (n.2479-6A>G) | ClinVar dbSNP |
| 4 | g.54285835A>T | CA915943060 | PDGFRA | c.2440-6A>T (n.2440-6A>T) c.1720-6A>T (n.1720-6A>T) c.2515-6A>T (n.2515-6A>T) c.2479-6A>T (n.2479-6A>T) | ClinVar dbSNP gnomAD v4 |
| 4 | g.54285836T>C | CA1458543924 | PDGFRA | c.2440-5T>C (n.2440-5T>C) c.1720-5T>C (n.1720-5T>C) c.2515-5T>C (n.2515-5T>C) c.2479-5T>C (n.2479-5T>C) | ClinVar dbSNP gnomAD v4 |
| 4 | g.54285836T= | CA1458543923 | PDGFRA | c.2440-5T= (n.2440-5T=) c.1720-5T= (n.1720-5T=) c.2515-5T= (n.2515-5T=) c.2479-5T= (n.2479-5T=) | |
| 4 | g.54285836_54285837insAATCAAGGAAATTTGCTAGTATATACAGAAGTCTTTGCTAAGAAATTTTCGTTTGAGATACACCAGTTACCG | CA2512636438 | PDGFRA | c.2440-5_2440-4insAATCAAGGAAATTTGCTAGTATATACAGAAGTCTTTGCTAAGAAATTTTCGTTTGAGATACACCAGTTACCG (n.2440-5_2440-4insAATCAAGGAAATTTGCTAGTATATACAGAAGTCTTTGCTAAGAAATTTTCGTTTGAGATACACCAGTTACCG) c.1720-5_1720-4insAATCAAGGAAATTTGCTAGTATATACAGAAGTCTTTGCTAAGAAATTTTCGTTTGAGATACACCAGTTACCG (n.1720-5_1720-4insAATCAAGGAAATTTGCTAGTATATACAGAAGTCTTTGCTAAGAAATTTTCGTTTGAGATACACCAGTTACCG) c.2515-5_2515-4insAATCAAGGAAATTTGCTAGTATATACAGAAGTCTTTGCTAAGAAATTTTCGTTTGAGATACACCAGTTACCG (n.2515-5_2515-4insAATCAAGGAAATTTGCTAGTATATACAGAAGTCTTTGCTAAGAAATTTTCGTTTGAGATACACCAGTTACCG) c.2479-5_2479-4insAATCAAGGAAATTTGCTAGTATATACAGAAGTCTTTGCTAAGAAATTTTCGTTTGAGATACACCAGTTACCG (n.2479-5_2479-4insAATCAAGGAAATTTGCTAGTATATACAGAAGTCTTTGCTAAGAAATTTTCGTTTGAGATACACCAGTTACCG) | |
| 4 | g.54285837G>A | CA658655843 | PDGFRA | c.2440-4G>A (n.2440-4G>A) c.1720-4G>A (n.1720-4G>A) c.2515-4G>A (n.2515-4G>A) c.2479-4G>A (n.2479-4G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.54285837G>C | CA2705803430 | PDGFRA | c.2440-4G>C (n.2440-4G>C) c.1720-4G>C (n.1720-4G>C) c.2515-4G>C (n.2515-4G>C) c.2479-4G>C (n.2479-4G>C) | dbSNP |
| 4 | g.54285837G= | CA1458543927 | PDGFRA | c.2440-4G= (n.2440-4G=) c.1720-4G= (n.1720-4G=) c.2515-4G= (n.2515-4G=) c.2479-4G= (n.2479-4G=) | |
| 4 | g.54285837G>T | CA551651576 | PDGFRA | c.2440-4G>T (n.2440-4G>T) c.1720-4G>T (n.1720-4G>T) c.2515-4G>T (n.2515-4G>T) c.2479-4G>T (n.2479-4G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.54285838C>A | CA2705786786 | PDGFRA | c.2440-3C>A (n.2440-3C>A) c.1720-3C>A (n.1720-3C>A) c.2515-3C>A (n.2515-3C>A) c.2479-3C>A (n.2479-3C>A) | dbSNP |
| 4 | g.54285838C= | CA1458543932 | PDGFRA | c.2440-3C= (n.2440-3C=) c.1720-3C= (n.1720-3C=) c.2515-3C= (n.2515-3C=) c.2479-3C= (n.2479-3C=) | |
| 4 | g.54285838C>G | CA2705786787 | PDGFRA | c.2440-3C>G (n.2440-3C>G) c.1720-3C>G (n.1720-3C>G) c.2515-3C>G (n.2515-3C>G) c.2479-3C>G (n.2479-3C>G) | dbSNP |
| 4 | g.54285838C>T | CA16611484 | PDGFRA | c.2440-3C>T (n.2440-3C>T) c.1720-3C>T (n.1720-3C>T) c.2515-3C>T (n.2515-3C>T) c.2479-3C>T (n.2479-3C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.54285839A>C | CA356894843 | PDGFRA | c.2440-2A>C (n.2440-2A>C) c.1720-2A>C (n.1720-2A>C) c.2515-2A>C (n.2515-2A>C) c.2479-2A>C (n.2479-2A>C) | |
| 4 | g.54285839A>G | CA356894842 | PDGFRA | c.2440-2A>G (n.2440-2A>G) c.1720-2A>G (n.1720-2A>G) c.2515-2A>G (n.2515-2A>G) c.2479-2A>G (n.2479-2A>G) | |
| 4 | g.54285839A>T | CA356894844 | PDGFRA | c.2440-2A>T (n.2440-2A>T) c.1720-2A>T (n.1720-2A>T) c.2515-2A>T (n.2515-2A>T) c.2479-2A>T (n.2479-2A>T) | dbSNP |
| 4 | g.54285840G>A | CA356894845 | PDGFRA | c.2440-1G>A (n.2440-1G>A) c.1720-1G>A (n.1720-1G>A) c.2515-1G>A (n.2515-1G>A) c.2479-1G>A (n.2479-1G>A) | dbSNP |
| 4 | g.54285840G>C | CA356894846 | PDGFRA | c.2440-1G>C (n.2440-1G>C) c.1720-1G>C (n.1720-1G>C) c.2515-1G>C (n.2515-1G>C) c.2479-1G>C (n.2479-1G>C) | dbSNP |
| 4 | g.54285840G>T | CA356894847 | PDGFRA | c.2440-1G>T (n.2440-1G>T) c.1720-1G>T (n.1720-1G>T) c.2515-1G>T (n.2515-1G>T) c.2479-1G>T (n.2479-1G>T) | |
| 4 | g.54285841T>A | CA356894848 | PDGFRA | c.2440T>A (p.Cys814Ser) c.1720T>A (p.Cys574Ser) c.2515T>A (p.Cys839Ser) c.2479T>A (p.Cys827Ser) | dbSNP |
| 4 | g.54285841T>C | CA356894849 | PDGFRA | c.2440T>C (p.Cys814Arg) c.1720T>C (p.Cys574Arg) c.2515T>C (p.Cys839Arg) c.2479T>C (p.Cys827Arg) | |
| 4 | g.54285841T>G | CA356894850 | PDGFRA | c.2440T>G (p.Cys814Gly) c.1720T>G (p.Cys574Gly) c.2515T>G (p.Cys839Gly) c.2479T>G (p.Cys827Gly) | dbSNP |
| 4 | g.54285842G>A | CA356894851 | PDGFRA | c.2441G>A (p.Cys814Tyr) c.1721G>A (p.Cys574Tyr) c.2516G>A (p.Cys839Tyr) c.2480G>A (p.Cys827Tyr) | dbSNP |
| 4 | g.54285842G>C | CA356894852 | PDGFRA | c.2441G>C (p.Cys814Ser) c.1721G>C (p.Cys574Ser) c.2516G>C (p.Cys839Ser) c.2480G>C (p.Cys827Ser) | dbSNP |
| 4 | g.54285842G>T | CA356894853 | PDGFRA | c.2441G>T (p.Cys814Phe) c.1721G>T (p.Cys574Phe) c.2516G>T (p.Cys839Phe) c.2480G>T (p.Cys827Phe) | |
| 4 | g.54285843T>A | CA356894854 | PDGFRA | c.2442T>A (p.Cys814Ter) c.1722T>A (p.Cys574Ter) c.2517T>A (p.Cys839Ter) c.2481T>A (p.Cys827Ter) | dbSNP |
| 4 | g.54285843T>C | CA439287754 | PDGFRA | c.2442T>C (p.Cys814=) c.1722T>C (p.Cys574=) c.2517T>C (p.Cys839=) c.2481T>C (p.Cys827=) | |
| 4 | g.54285843T>G | CA356894855 | PDGFRA | c.2442T>G (p.Cys814Trp) c.1722T>G (p.Cys574Trp) c.2517T>G (p.Cys839Trp) c.2481T>G (p.Cys827Trp) | |
| 4 | g.54285844G>A | CA356894856 | PDGFRA | c.2443G>A (p.Val815Ile) c.1723G>A (p.Val575Ile) c.2518G>A (p.Val840Ile) c.2482G>A (p.Val828Ile) | dbSNP gnomAD v4 |
| 4 | g.54285844G>C | CA356894857 | PDGFRA | c.2443G>C (p.Val815Leu) c.1723G>C (p.Val575Leu) c.2518G>C (p.Val840Leu) c.2482G>C (p.Val828Leu) | dbSNP |
| 4 | g.54285844G>T | CA356894858 | PDGFRA | c.2443G>T (p.Val815Phe) c.1723G>T (p.Val575Phe) c.2518G>T (p.Val840Phe) c.2482G>T (p.Val828Phe) | dbSNP |
| 4 | g.54285845T>A | CA356894861 | PDGFRA | c.2444T>A (p.Val815Asp) c.1724T>A (p.Val575Asp) c.2519T>A (p.Val840Asp) c.2483T>A (p.Val828Asp) | |
| 4 | g.54285845T>C | CA356894860 | PDGFRA | c.2444T>C (p.Val815Ala) c.1724T>C (p.Val575Ala) c.2519T>C (p.Val840Ala) c.2483T>C (p.Val828Ala) | dbSNP COSMIC |
| 4 | g.54285845T>G | CA356894859 | PDGFRA | c.2444T>G (p.Val815Gly) c.1724T>G (p.Val575Gly) c.2519T>G (p.Val840Gly) c.2483T>G (p.Val828Gly) | dbSNP |
| 4 | g.54285846C>A | CA439287756 | PDGFRA | c.2445C>A (p.Val815=) c.1725C>A (p.Val575=) c.2520C>A (p.Val840=) c.2484C>A (p.Val828=) | dbSNP |
| 4 | g.54285846C= | CA1458543937 | PDGFRA | c.2445C= (p.Val815=) c.1725C= (p.Val575=) c.2520C= (p.Val840=) c.2484C= (p.Val828=) | |
| 4 | g.54285846C>G | CA439287757 | PDGFRA | c.2445C>G (p.Val815=) c.1725C>G (p.Val575=) c.2520C>G (p.Val840=) c.2484C>G (p.Val828=) | ClinVar dbSNP gnomAD v4 |
| 4 | g.54285846C>T | CA439287758 | PDGFRA | c.2445C>T (p.Val815=) c.1725C>T (p.Val575=) c.2520C>T (p.Val840=) c.2484C>T (p.Val828=) | dbSNP |
| 4 | g.54285847C>A | CA356894862 | PDGFRA | c.2446C>A (p.His816Asn) c.1726C>A (p.His576Asn) c.2521C>A (p.His841Asn) c.2485C>A (p.His829Asn) | |
| 4 | g.54285847C>G | CA356894863 | PDGFRA | c.2446C>G (p.His816Asp) c.1726C>G (p.His576Asp) c.2521C>G (p.His841Asp) c.2485C>G (p.His829Asp) | dbSNP |
| 4 | g.54285847C>T | CA356894864 | PDGFRA | c.2446C>T (p.His816Tyr) c.1726C>T (p.His576Tyr) c.2521C>T (p.His841Tyr) c.2485C>T (p.His829Tyr) | dbSNP |
| 4 | g.54285848A>C | CA356894865 | PDGFRA | c.2447A>C (p.His816Pro) c.1727A>C (p.His576Pro) c.2522A>C (p.His841Pro) c.2486A>C (p.His829Pro) | dbSNP |
| 4 | g.54285848A>G | CA356894866 | PDGFRA | c.2447A>G (p.His816Arg) c.1727A>G (p.His576Arg) c.2522A>G (p.His841Arg) c.2486A>G (p.His829Arg) | dbSNP |
| 4 | g.54285848A>T | CA356894867 | PDGFRA | c.2447A>T (p.His816Leu) c.1727A>T (p.His576Leu) c.2522A>T (p.His841Leu) c.2486A>T (p.His829Leu) | dbSNP |
| 4 | g.54285849C>A | CA356894868 | PDGFRA | c.2448C>A (p.His816Gln) c.1728C>A (p.His576Gln) c.2523C>A (p.His841Gln) c.2487C>A (p.His829Gln) | |
| 4 | g.54285849C>G | CA356894869 | PDGFRA | c.2448C>G (p.His816Gln) c.1728C>G (p.His576Gln) c.2523C>G (p.His841Gln) c.2487C>G (p.His829Gln) | dbSNP |
| 4 | g.54285849C>T | CA439287760 | PDGFRA | c.2448C>T (p.His816=) c.1728C>T (p.His576=) c.2523C>T (p.His841=) c.2487C>T (p.His829=) | ClinVar dbSNP |
| 4 | g.54285850C>A | CA356894870 | PDGFRA | c.2449C>A (p.Arg817Ser) c.1729C>A (p.Arg577Ser) c.2524C>A (p.Arg842Ser) c.2488C>A (p.Arg830Ser) | dbSNP |
| 4 | g.54285850C= | CA1458543949 | PDGFRA | c.2449C= (p.Arg817=) c.1729C= (p.Arg577=) c.2524C= (p.Arg842=) c.2488C= (p.Arg830=) | |
| 4 | g.54285850C>G | CA356894871 | PDGFRA | c.2449C>G (p.Arg817Gly) c.1729C>G (p.Arg577Gly) c.2524C>G (p.Arg842Gly) c.2488C>G (p.Arg830Gly) | ClinVar dbSNP |
| 4 | g.54285850C>T | CA2922872 | PDGFRA | c.2449C>T (p.Arg817Cys) c.1729C>T (p.Arg577Cys) c.2524C>T (p.Arg842Cys) c.2488C>T (p.Arg830Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.54285851G>A | CA96866728 | PDGFRA | c.2450G>A (p.Arg817His) c.1730G>A (p.Arg577His) c.2525G>A (p.Arg842His) c.2489G>A (p.Arg830His) | ClinVar dbSNP |
| 4 | g.54285851G>C | CA356894872 | PDGFRA | c.2450G>C (p.Arg817Pro) c.1730G>C (p.Arg577Pro) c.2525G>C (p.Arg842Pro) c.2489G>C (p.Arg830Pro) | dbSNP |
| 4 | g.54285851G= | CA1458543955 | PDGFRA | c.2450G= (p.Arg817=) c.1730G= (p.Arg577=) c.2525G= (p.Arg842=) c.2489G= (p.Arg830=) | |
| 4 | g.54285851G>T | CA356894873 | PDGFRA | c.2450G>T (p.Arg817Leu) c.1730G>T (p.Arg577Leu) c.2525G>T (p.Arg842Leu) c.2489G>T (p.Arg830Leu) | dbSNP |
| 4 | g.54285852_54285862del | CA2670665558 | PDGFRA | c.2451_2461del (p.Asp818SerfsTer15) c.1731_1741del (p.Asp578SerfsTer15) c.2526_2536del (p.Asp843SerfsTer15) c.2490_2500del (p.Asp831SerfsTer15) | gnomAD v4 |
| 4 | g.54285852T>A | CA439287761 | PDGFRA | c.2451T>A (p.Arg817=) c.1731T>A (p.Arg577=) c.2526T>A (p.Arg842=) c.2490T>A (p.Arg830=) | dbSNP |
| 4 | g.54285852T>C | CA439287762 | PDGFRA | c.2451T>C (p.Arg817=) c.1731T>C (p.Arg577=) c.2526T>C (p.Arg842=) c.2490T>C (p.Arg830=) | dbSNP |
| 4 | g.54285852T>G | CA439287763 | PDGFRA | c.2451T>G (p.Arg817=) c.1731T>G (p.Arg577=) c.2526T>G (p.Arg842=) c.2490T>G (p.Arg830=) | dbSNP |
| 4 | g.54285853G>A | CA356894875 | PDGFRA | c.2452G>A (p.Asp818Asn) c.1732G>A (p.Asp578Asn) c.2527G>A (p.Asp843Asn) c.2491G>A (p.Asp831Asn) | dbSNP |
| 4 | g.54285853G>C | CA356894876 | PDGFRA | c.2452G>C (p.Asp818His) c.1732G>C (p.Asp578His) c.2527G>C (p.Asp843His) c.2491G>C (p.Asp831His) | dbSNP |
| 4 | g.54285853G>T | CA356894874 | PDGFRA | c.2452G>T (p.Asp818Tyr) c.1732G>T (p.Asp578Tyr) c.2527G>T (p.Asp843Tyr) c.2491G>T (p.Asp831Tyr) | |
| 4 | g.54285854A>C | CA356894877 | PDGFRA | c.2453A>C (p.Asp818Ala) c.1733A>C (p.Asp578Ala) c.2528A>C (p.Asp843Ala) c.2492A>C (p.Asp831Ala) | dbSNP |
| 4 | g.54285854A>G | CA356894878 | PDGFRA | c.2453A>G (p.Asp818Gly) c.1733A>G (p.Asp578Gly) c.2528A>G (p.Asp843Gly) c.2492A>G (p.Asp831Gly) | dbSNP |
| 4 | g.54285854A>T | CA356894879 | PDGFRA | c.2453A>T (p.Asp818Val) c.1733A>T (p.Asp578Val) c.2528A>T (p.Asp843Val) c.2492A>T (p.Asp831Val) | ClinVar dbSNP |
| 4 | g.54285855T>A | CA356894880 | PDGFRA | c.2454T>A (p.Asp818Glu) c.1734T>A (p.Asp578Glu) c.2529T>A (p.Asp843Glu) c.2493T>A (p.Asp831Glu) | |
| 4 | g.54285855T>C | CA439287764 | PDGFRA | c.2454T>C (p.Asp818=) c.1734T>C (p.Asp578=) c.2529T>C (p.Asp843=) c.2493T>C (p.Asp831=) | ClinVar dbSNP |
| 4 | g.54285855T>G | CA356894881 | PDGFRA | c.2454T>G (p.Asp818Glu) c.1734T>G (p.Asp578Glu) c.2529T>G (p.Asp843Glu) c.2493T>G (p.Asp831Glu) | |
| 4 | g.54285855T= | CA1458543958 | PDGFRA | c.2454T= (p.Asp818=) c.1734T= (p.Asp578=) c.2529T= (p.Asp843=) c.2493T= (p.Asp831=) | |
| 4 | g.54285856C>A | CA356894882 | PDGFRA | c.2455C>A (p.Leu819Met) c.1735C>A (p.Leu579Met) c.2530C>A (p.Leu844Met) c.2494C>A (p.Leu832Met) | COSMIC |
| 4 | g.54285856C= | CA1458543964 | PDGFRA | c.2455C= (p.Leu819=) c.1735C= (p.Leu579=) c.2530C= (p.Leu844=) c.2494C= (p.Leu832=) | |
| 4 | g.54285856C>G | CA356894883 | PDGFRA | c.2455C>G (p.Leu819Val) c.1735C>G (p.Leu579Val) c.2530C>G (p.Leu844Val) c.2494C>G (p.Leu832Val) | dbSNP |
| 4 | g.54285856C>T | CA439287766 | PDGFRA | c.2455C>T (p.Leu819=) c.1735C>T (p.Leu579=) c.2530C>T (p.Leu844=) c.2494C>T (p.Leu832=) | ClinVar dbSNP gnomAD v4 |
| 4 | g.54285857T>A | CA356894884 | PDGFRA | c.2456T>A (p.Leu819Gln) c.1736T>A (p.Leu579Gln) c.2531T>A (p.Leu844Gln) c.2495T>A (p.Leu832Gln) | |
| 4 | g.54285857T>C | CA356894885 | PDGFRA | c.2456T>C (p.Leu819Pro) c.1736T>C (p.Leu579Pro) c.2531T>C (p.Leu844Pro) c.2495T>C (p.Leu832Pro) | gnomAD v4 |
| 4 | g.54285857T>G | CA356894886 | PDGFRA | c.2456T>G (p.Leu819Arg) c.1736T>G (p.Leu579Arg) c.2531T>G (p.Leu844Arg) c.2495T>G (p.Leu832Arg) | COSMIC |
| 4 | g.54285858G>A | CA439287767 | PDGFRA | c.2457G>A (p.Leu819=) c.1737G>A (p.Leu579=) c.2532G>A (p.Leu844=) c.2496G>A (p.Leu832=) | dbSNP |
| 4 | g.54285858G>C | CA439287768 | PDGFRA | c.2457G>C (p.Leu819=) c.1737G>C (p.Leu579=) c.2532G>C (p.Leu844=) c.2496G>C (p.Leu832=) | dbSNP |
| 4 | g.54285858G>T | CA439287769 | PDGFRA | c.2457G>T (p.Leu819=) c.1737G>T (p.Leu579=) c.2532G>T (p.Leu844=) c.2496G>T (p.Leu832=) | ClinVar dbSNP |
| 4 | g.54285859G>A | CA356894887 | PDGFRA | c.2458G>A (p.Ala820Thr) c.1738G>A (p.Ala580Thr) c.2533G>A (p.Ala845Thr) c.2497G>A (p.Ala833Thr) | dbSNP COSMIC |
| 4 | g.54285859G>C | CA356894888 | PDGFRA | c.2458G>C (p.Ala820Pro) c.1738G>C (p.Ala580Pro) c.2533G>C (p.Ala845Pro) c.2497G>C (p.Ala833Pro) | dbSNP |
| 4 | g.54285859G>T | CA356894889 | PDGFRA | c.2458G>T (p.Ala820Ser) c.1738G>T (p.Ala580Ser) c.2533G>T (p.Ala845Ser) c.2497G>T (p.Ala833Ser) | dbSNP |
| 4 | g.54285860C>A | CA356894892 | PDGFRA | c.2459C>A (p.Ala820Asp) c.1739C>A (p.Ala580Asp) c.2534C>A (p.Ala845Asp) c.2498C>A (p.Ala833Asp) | |
| 4 | g.54285860C>G | CA356894890 | PDGFRA | c.2459C>G (p.Ala820Gly) c.1739C>G (p.Ala580Gly) c.2534C>G (p.Ala845Gly) c.2498C>G (p.Ala833Gly) | dbSNP |
| 4 | g.54285860C>T | CA356894891 | PDGFRA | c.2459C>T (p.Ala820Val) c.1739C>T (p.Ala580Val) c.2534C>T (p.Ala845Val) c.2498C>T (p.Ala833Val) | dbSNP |
| 4 | g.54285861T>A | CA439287770 | PDGFRA | c.2460T>A (p.Ala820=) c.1740T>A (p.Ala580=) c.2535T>A (p.Ala845=) c.2499T>A (p.Ala833=) | dbSNP |
| 4 | g.54285861T>C | CA439287771 | PDGFRA | c.2460T>C (p.Ala820=) c.1740T>C (p.Ala580=) c.2535T>C (p.Ala845=) c.2499T>C (p.Ala833=) | |
| 4 | g.54285861T>G | CA439287773 | PDGFRA | c.2460T>G (p.Ala820=) c.1740T>G (p.Ala580=) c.2535T>G (p.Ala845=) c.2499T>G (p.Ala833=) | ClinVar |
| 4 | g.54285862G>A | CA356894893 | PDGFRA | c.2461G>A (p.Ala821Thr) c.1741G>A (p.Ala581Thr) c.2536G>A (p.Ala846Thr) c.2500G>A (p.Ala834Thr) | dbSNP |
| 4 | g.54285862G>C | CA356894894 | PDGFRA | c.2461G>C (p.Ala821Pro) c.1741G>C (p.Ala581Pro) c.2536G>C (p.Ala846Pro) c.2500G>C (p.Ala834Pro) | dbSNP |
| 4 | g.54285862G>T | CA356894895 | PDGFRA | c.2461G>T (p.Ala821Ser) c.1741G>T (p.Ala581Ser) c.2536G>T (p.Ala846Ser) c.2500G>T (p.Ala834Ser) | dbSNP |
| 4 | g.54285863C>A | CA356894896 | PDGFRA | c.2462C>A (p.Ala821Asp) c.1742C>A (p.Ala581Asp) c.2537C>A (p.Ala846Asp) c.2501C>A (p.Ala834Asp) | dbSNP |
| 4 | g.54285863C>G | CA356894897 | PDGFRA | c.2462C>G (p.Ala821Gly) c.1742C>G (p.Ala581Gly) c.2537C>G (p.Ala846Gly) c.2501C>G (p.Ala834Gly) | dbSNP |
| 4 | g.54285863C>T | CA356894898 | PDGFRA | c.2462C>T (p.Ala821Val) c.1742C>T (p.Ala581Val) c.2537C>T (p.Ala846Val) c.2501C>T (p.Ala834Val) | dbSNP COSMIC |
| 4 | g.54285864T>A | CA439287775 | PDGFRA | c.2463T>A (p.Ala821=) c.1743T>A (p.Ala581=) c.2538T>A (p.Ala846=) c.2502T>A (p.Ala834=) | dbSNP |
| 4 | g.54285864T>C | CA439287776 | PDGFRA | c.2463T>C (p.Ala821=) c.1743T>C (p.Ala581=) c.2538T>C (p.Ala846=) c.2502T>C (p.Ala834=) | ClinVar dbSNP gnomAD v4 |
| 4 | g.54285864T>G | CA439287774 | PDGFRA | c.2463T>G (p.Ala821=) c.1743T>G (p.Ala581=) c.2538T>G (p.Ala846=) c.2502T>G (p.Ala834=) | dbSNP |
| 4 | g.54285864T= | CA1458543970 | PDGFRA | c.2463T= (p.Ala821=) c.1743T= (p.Ala581=) c.2538T= (p.Ala846=) c.2502T= (p.Ala834=) | |
| 4 | g.54285865C>A | CA356894899 | PDGFRA | c.2464C>A (p.Arg822Ser) c.1744C>A (p.Arg582Ser) c.2539C>A (p.Arg847Ser) c.2503C>A (p.Arg835Ser) | COSMIC |
| 4 | g.54285865C>G | CA356894900 | PDGFRA | c.2464C>G (p.Arg822Gly) c.1744C>G (p.Arg582Gly) c.2539C>G (p.Arg847Gly) c.2503C>G (p.Arg835Gly) | |
| 4 | g.54285865C>T | CA356894901 | PDGFRA | c.2464C>T (p.Arg822Cys) c.1744C>T (p.Arg582Cys) c.2539C>T (p.Arg847Cys) c.2503C>T (p.Arg835Cys) | ClinVar dbSNP COSMIC |
| 4 | g.54285866G>A | CA2922873 | PDGFRA | c.2465G>A (p.Arg822His) c.1745G>A (p.Arg582His) c.2540G>A (p.Arg847His) c.2504G>A (p.Arg835His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.54285866G>C | CA356894902 | PDGFRA | c.2465G>C (p.Arg822Pro) c.1745G>C (p.Arg582Pro) c.2540G>C (p.Arg847Pro) c.2504G>C (p.Arg835Pro) | dbSNP |
| 4 | g.54285866G= | CA1458543979 | PDGFRA | c.2465G= (p.Arg822=) c.1745G= (p.Arg582=) c.2540G= (p.Arg847=) c.2504G= (p.Arg835=) | |
| 4 | g.54285866G>T | CA356894903 | PDGFRA | c.2465G>T (p.Arg822Leu) c.1745G>T (p.Arg582Leu) c.2540G>T (p.Arg847Leu) c.2504G>T (p.Arg835Leu) | dbSNP COSMIC |
| 4 | g.54285867C>A | CA439287777 | PDGFRA | c.2466C>A (p.Arg822=) c.1746C>A (p.Arg582=) c.2541C>A (p.Arg847=) c.2505C>A (p.Arg835=) | |
| 4 | g.54285867C= | CA1458543984 | PDGFRA | c.2466C= (p.Arg822=) c.1746C= (p.Arg582=) c.2541C= (p.Arg847=) c.2505C= (p.Arg835=) | |
| 4 | g.54285867C>G | CA439287778 | PDGFRA | c.2466C>G (p.Arg822=) c.1746C>G (p.Arg582=) c.2541C>G (p.Arg847=) c.2505C>G (p.Arg835=) | dbSNP |
| 4 | g.54285867C>T | CA439287779 | PDGFRA | c.2466C>T (p.Arg822=) c.1746C>T (p.Arg582=) c.2541C>T (p.Arg847=) c.2505C>T (p.Arg835=) | dbSNP |
| 4 | g.54285868A>C | CA356894904 | PDGFRA | c.2467A>C (p.Asn823His) c.1747A>C (p.Asn583His) c.2542A>C (p.Asn848His) c.2506A>C (p.Asn836His) | |
| 4 | g.54285868A>G | CA356894906 | PDGFRA | c.2467A>G (p.Asn823Asp) c.1747A>G (p.Asn583Asp) c.2542A>G (p.Asn848Asp) c.2506A>G (p.Asn836Asp) | ClinVar dbSNP |
| 4 | g.54285868A>T | CA356894905 | PDGFRA | c.2467A>T (p.Asn823Tyr) c.1747A>T (p.Asn583Tyr) c.2542A>T (p.Asn848Tyr) c.2506A>T (p.Asn836Tyr) | dbSNP |
| 4 | g.54285869A>C | CA356894907 | PDGFRA | c.2468A>C (p.Asn823Thr) c.1748A>C (p.Asn583Thr) c.2543A>C (p.Asn848Thr) c.2507A>C (p.Asn836Thr) | dbSNP |
| 4 | g.54285869A>G | CA356894909 | PDGFRA | c.2468A>G (p.Asn823Ser) c.1748A>G (p.Asn583Ser) c.2543A>G (p.Asn848Ser) c.2507A>G (p.Asn836Ser) | dbSNP |
| 4 | g.54285869A>T | CA356894908 | PDGFRA | c.2468A>T (p.Asn823Ile) c.1748A>T (p.Asn583Ile) c.2543A>T (p.Asn848Ile) c.2507A>T (p.Asn836Ile) | dbSNP |
| 4 | g.54285870C>A | CA356894910 | PDGFRA | c.2469C>A (p.Asn823Lys) c.1749C>A (p.Asn583Lys) c.2544C>A (p.Asn848Lys) c.2508C>A (p.Asn836Lys) | dbSNP |
| 4 | g.54285870C= | CA1458543988 | PDGFRA | c.2469C= (p.Asn823=) c.1749C= (p.Asn583=) c.2544C= (p.Asn848=) c.2508C= (p.Asn836=) | |
| 4 | g.54285870C>G | CA356894911 | PDGFRA | c.2469C>G (p.Asn823Lys) c.1749C>G (p.Asn583Lys) c.2544C>G (p.Asn848Lys) c.2508C>G (p.Asn836Lys) | dbSNP |
| 4 | g.54285870C>T | CA2922874 | PDGFRA | c.2469C>T (p.Asn823=) c.1749C>T (p.Asn583=) c.2544C>T (p.Asn848=) c.2508C>T (p.Asn836=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.54285871G>A | CA2922875 | PDGFRA | c.2470G>A (p.Val824Ile) c.1750G>A (p.Val584Ile) c.2545G>A (p.Val849Ile) c.2509G>A (p.Val837Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.54285871G>C | CA356894912 | PDGFRA | c.2470G>C (p.Val824Leu) c.1750G>C (p.Val584Leu) c.2545G>C (p.Val849Leu) c.2509G>C (p.Val837Leu) | gnomAD v4 COSMIC |
| 4 | g.54285871G= | CA1458543997 | PDGFRA | c.2470G= (p.Val824=) c.1750G= (p.Val584=) c.2545G= (p.Val849=) c.2509G= (p.Val837=) | |
| 4 | g.54285871G>T | CA356894913 | PDGFRA | c.2470G>T (p.Val824Phe) c.1750G>T (p.Val584Phe) c.2545G>T (p.Val849Phe) c.2509G>T (p.Val837Phe) | |
| 4 | g.54285871_54285874delinsGTCC | CA1458544003 | PDGFRA | c.2470_2473delinsGTCC (p.Val824=) c.1750_1753delinsGTCC (p.Val584=) c.2545_2548delinsGTCC (p.Val849=) c.2509_2512delinsGTCC (p.Val837=) | |
| 4 | g.54285872T>A | CA356894914 | PDGFRA | c.2471T>A (p.Val824Asp) c.1751T>A (p.Val584Asp) c.2546T>A (p.Val849Asp) c.2510T>A (p.Val837Asp) | dbSNP |
| 4 | g.54285872T>C | CA356894915 | PDGFRA | c.2471T>C (p.Val824Ala) c.1751T>C (p.Val584Ala) c.2546T>C (p.Val849Ala) c.2510T>C (p.Val837Ala) | dbSNP |
| 4 | g.54285872T>G | CA356894916 | PDGFRA | c.2471T>G (p.Val824Gly) c.1751T>G (p.Val584Gly) c.2546T>G (p.Val849Gly) c.2510T>G (p.Val837Gly) | |
| 4 | g.54285872_54285873delinsCT | CA645526425 | PDGFRA | c.2471_2472delinsCT (p.Val824Ala) c.1751_1752delinsCT (p.Val584Ala) c.2546_2547delinsCT (p.Val849Ala) c.2510_2511delinsCT (p.Val837Ala) | COSMIC |
| 4 | g.54285876_54285878del | CA916081448 | PDGFRA | c.2475_2477del (p.Leu826del) c.1755_1757del (p.Leu586del) c.2550_2552del (p.Leu851del) c.2514_2516del (p.Leu839del) | ClinVar dbSNP |
| 4 | g.54285873C>A | CA2922877 | PDGFRA | c.2472C>A (p.Val824=) c.1752C>A (p.Val584=) c.2547C>A (p.Val849=) c.2511C>A (p.Val837=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.54285873C= | CA1458544011 | PDGFRA | c.2472C= (p.Val824=) c.1752C= (p.Val584=) c.2547C= (p.Val849=) c.2511C= (p.Val837=) | |
| 4 | g.54285873C>G | CA439287780 | PDGFRA | c.2472C>G (p.Val824=) c.1752C>G (p.Val584=) c.2547C>G (p.Val849=) c.2511C>G (p.Val837=) | |
| 4 | g.54285873C>T | CA2922876 | PDGFRA | c.2472C>T (p.Val824=) c.1752C>T (p.Val584=) c.2547C>T (p.Val849=) c.2511C>T (p.Val837=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.54285874C>A | CA356894917 | PDGFRA | c.2473C>A (p.Leu825Ile) c.1753C>A (p.Leu585Ile) c.2548C>A (p.Leu850Ile) c.2512C>A (p.Leu838Ile) | dbSNP |
| 4 | g.54285874C>G | CA356894918 | PDGFRA | c.2473C>G (p.Leu825Val) c.1753C>G (p.Leu585Val) c.2548C>G (p.Leu850Val) c.2512C>G (p.Leu838Val) | dbSNP |
| 4 | g.54285874C>T | CA356894919 | PDGFRA | c.2473C>T (p.Leu825Phe) c.1753C>T (p.Leu585Phe) c.2548C>T (p.Leu850Phe) c.2512C>T (p.Leu838Phe) | |
| 4 | g.54285875T>A | CA356894920 | PDGFRA | c.2474T>A (p.Leu825His) c.1754T>A (p.Leu585His) c.2549T>A (p.Leu850His) c.2513T>A (p.Leu838His) | dbSNP |
| 4 | g.54285875T>C | CA356894922 | PDGFRA | c.2474T>C (p.Leu825Pro) c.1754T>C (p.Leu585Pro) c.2549T>C (p.Leu850Pro) c.2513T>C (p.Leu838Pro) | dbSNP |
| 4 | g.54285875T>G | CA356894921 | PDGFRA | c.2474T>G (p.Leu825Arg) c.1754T>G (p.Leu585Arg) c.2549T>G (p.Leu850Arg) c.2513T>G (p.Leu838Arg) | |
| 4 | g.54285876C>A | CA439287781 | PDGFRA | c.2475C>A (p.Leu825=) c.1755C>A (p.Leu585=) c.2550C>A (p.Leu850=) c.2514C>A (p.Leu838=) | |
| 4 | g.54285876C= | CA1458544020 | PDGFRA | c.2475C= (p.Leu825=) c.1755C= (p.Leu585=) c.2550C= (p.Leu850=) c.2514C= (p.Leu838=) | |
| 4 | g.54285876C>G | CA96866740 | PDGFRA | c.2475C>G (p.Leu825=) c.1755C>G (p.Leu585=) c.2550C>G (p.Leu850=) c.2514C>G (p.Leu838=) | ClinVar dbSNP |
| 4 | g.54285876C>T | CA439287783 | PDGFRA | c.2475C>T (p.Leu825=) c.1755C>T (p.Leu585=) c.2550C>T (p.Leu850=) c.2514C>T (p.Leu838=) | ClinVar dbSNP gnomAD v4 |
| 4 | g.54285877C>A | CA356894923 | PDGFRA | c.2476C>A (p.Leu826Met) c.1756C>A (p.Leu586Met) c.2551C>A (p.Leu851Met) c.2515C>A (p.Leu839Met) | dbSNP |
| 4 | g.54285877C= | CA1458544024 | PDGFRA | c.2476C= (p.Leu826=) c.1756C= (p.Leu586=) c.2551C= (p.Leu851=) c.2515C= (p.Leu839=) | |
| 4 | g.54285877C>G | CA356894924 | PDGFRA | c.2476C>G (p.Leu826Val) c.1756C>G (p.Leu586Val) c.2551C>G (p.Leu851Val) c.2515C>G (p.Leu839Val) | dbSNP |
| 4 | g.54285877C>T | CA439287784 | PDGFRA | c.2476C>T (p.Leu826=) c.1756C>T (p.Leu586=) c.2551C>T (p.Leu851=) c.2515C>T (p.Leu839=) | dbSNP gnomAD v4 |
| 4 | g.54285878T>A | CA356894925 | PDGFRA | c.2477T>A (p.Leu826Gln) c.1757T>A (p.Leu586Gln) c.2552T>A (p.Leu851Gln) c.2516T>A (p.Leu839Gln) | |
| 4 | g.54285878T>C | CA356894926 | PDGFRA | c.2477T>C (p.Leu826Pro) c.1757T>C (p.Leu586Pro) c.2552T>C (p.Leu851Pro) c.2516T>C (p.Leu839Pro) | COSMIC |
| 4 | g.54285878T>G | CA356894927 | PDGFRA | c.2477T>G (p.Leu826Arg) c.1757T>G (p.Leu586Arg) c.2552T>G (p.Leu851Arg) c.2516T>G (p.Leu839Arg) | |
| 4 | g.54285879G>A | CA439287785 | PDGFRA | c.2478G>A (p.Leu826=) c.1758G>A (p.Leu586=) c.2553G>A (p.Leu851=) c.2517G>A (p.Leu839=) | dbSNP |
| 4 | g.54285879G>C | CA439287786 | PDGFRA | c.2478G>C (p.Leu826=) c.1758G>C (p.Leu586=) c.2553G>C (p.Leu851=) c.2517G>C (p.Leu839=) | dbSNP |
| 4 | g.54285879G>T | CA439287787 | PDGFRA | c.2478G>T (p.Leu826=) c.1758G>T (p.Leu586=) c.2553G>T (p.Leu851=) c.2517G>T (p.Leu839=) | |
| 4 | g.54285880G>A | CA356894928 | PDGFRA | c.2479G>A (p.Ala827Thr) c.1759G>A (p.Ala587Thr) c.2554G>A (p.Ala852Thr) c.2518G>A (p.Ala840Thr) | ClinVar dbSNP |
| 4 | g.54285880G>C | CA356894929 | PDGFRA | c.2479G>C (p.Ala827Pro) c.1759G>C (p.Ala587Pro) c.2554G>C (p.Ala852Pro) c.2518G>C (p.Ala840Pro) | dbSNP |
| 4 | g.54285880G= | CA1458544028 | PDGFRA | c.2479G= (p.Ala827=) c.1759G= (p.Ala587=) c.2554G= (p.Ala852=) c.2518G= (p.Ala840=) | |
| 4 | g.54285880G>T | CA356894930 | PDGFRA | c.2479G>T (p.Ala827Ser) c.1759G>T (p.Ala587Ser) c.2554G>T (p.Ala852Ser) c.2518G>T (p.Ala840Ser) | dbSNP |
| 4 | g.54285881C>A | CA356894932 | PDGFRA | c.2480C>A (p.Ala827Glu) c.1760C>A (p.Ala587Glu) c.2555C>A (p.Ala852Glu) c.2519C>A (p.Ala840Glu) | ClinVar dbSNP |
| 4 | g.54285881C= | CA1458544031 | PDGFRA | c.2480C= (p.Ala827=) c.1760C= (p.Ala587=) c.2555C= (p.Ala852=) c.2519C= (p.Ala840=) | |
| 4 | g.54285881C>G | CA356894931 | PDGFRA | c.2480C>G (p.Ala827Gly) c.1760C>G (p.Ala587Gly) c.2555C>G (p.Ala852Gly) c.2519C>G (p.Ala840Gly) | dbSNP |
| 4 | g.54285881C>T | CA2922878 | PDGFRA | c.2480C>T (p.Ala827Val) c.1760C>T (p.Ala587Val) c.2555C>T (p.Ala852Val) c.2519C>T (p.Ala840Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.54285882A>C | CA439287789 | PDGFRA | c.2481A>C (p.Ala827=) c.1761A>C (p.Ala587=) c.2556A>C (p.Ala852=) c.2520A>C (p.Ala840=) | dbSNP |
| 4 | g.54285882A>G | CA439287790 | PDGFRA | c.2481A>G (p.Ala827=) c.1761A>G (p.Ala587=) c.2556A>G (p.Ala852=) c.2520A>G (p.Ala840=) | dbSNP |
| 4 | g.54285882A>T | CA439287791 | PDGFRA | c.2481A>T (p.Ala827=) c.1761A>T (p.Ala587=) c.2556A>T (p.Ala852=) c.2520A>T (p.Ala840=) | dbSNP |
| 4 | g.54285883C>A | CA356894933 | PDGFRA | c.2482C>A (p.Gln828Lys) c.1762C>A (p.Gln588Lys) c.2557C>A (p.Gln853Lys) c.2521C>A (p.Gln841Lys) | dbSNP |
| 4 | g.54285883C>G | CA356894934 | PDGFRA | c.2482C>G (p.Gln828Glu) c.1762C>G (p.Gln588Glu) c.2557C>G (p.Gln853Glu) c.2521C>G (p.Gln841Glu) | dbSNP |
| 4 | g.54285883C>T | CA356894935 | PDGFRA | c.2482C>T (p.Gln828Ter) c.1762C>T (p.Gln588Ter) c.2557C>T (p.Gln853Ter) c.2521C>T (p.Gln841Ter) | gnomAD v4 COSMIC |
| 4 | g.54285884A= | CA1458544034 | PDGFRA | c.2483A= (p.Gln828=) c.1763A= (p.Gln588=) c.2558A= (p.Gln853=) c.2522A= (p.Gln841=) | |
| 4 | g.54285884A>C | CA356894936 | PDGFRA | c.2483A>C (p.Gln828Pro) c.1763A>C (p.Gln588Pro) c.2558A>C (p.Gln853Pro) c.2522A>C (p.Gln841Pro) | |
| 4 | g.54285884A>G | CA350758 | PDGFRA | c.2483A>G (p.Gln828Arg) c.1763A>G (p.Gln588Arg) c.2558A>G (p.Gln853Arg) c.2522A>G (p.Gln841Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.54285884A>T | CA356894937 | PDGFRA | c.2483A>T (p.Gln828Leu) c.1763A>T (p.Gln588Leu) c.2558A>T (p.Gln853Leu) c.2522A>T (p.Gln841Leu) | dbSNP |
| 4 | g.54285885A>C | CA356894939 | PDGFRA | c.2484A>C (p.Gln828His) c.1764A>C (p.Gln588His) c.2559A>C (p.Gln853His) c.2523A>C (p.Gln841His) | |
| 4 | g.54285885A>G | CA439287795 | PDGFRA | c.2484A>G (p.Gln828=) c.1764A>G (p.Gln588=) c.2559A>G (p.Gln853=) c.2523A>G (p.Gln841=) | dbSNP |
| 4 | g.54285885A>T | CA356894938 | PDGFRA | c.2484A>T (p.Gln828His) c.1764A>T (p.Gln588His) c.2559A>T (p.Gln853His) c.2523A>T (p.Gln841His) | dbSNP |
| 4 | g.54285886G>A | CA356894940 | PDGFRA | c.2485G>A (p.Gly829Arg) c.1765G>A (p.Gly589Arg) c.2560G>A (p.Gly854Arg) c.2524G>A (p.Gly842Arg) | COSMIC |
| 4 | g.54285886G>C | CA356894941 | PDGFRA | c.2485G>C (p.Gly829Arg) c.1765G>C (p.Gly589Arg) c.2560G>C (p.Gly854Arg) c.2524G>C (p.Gly842Arg) | |
| 4 | g.54285886G>T | CA356894942 | PDGFRA | c.2485G>T (p.Gly829Ter) c.1765G>T (p.Gly589Ter) c.2560G>T (p.Gly854Ter) c.2524G>T (p.Gly842Ter) | |
| 4 | g.54285886_54285887insT | CA2670665643 | PDGFRA | c.2485_2486insT (p.Gly829ValfsTer8) c.1765_1766insT (p.Gly589ValfsTer8) c.2560_2561insT (p.Gly854ValfsTer8) c.2524_2525insT (p.Gly842ValfsTer8) | gnomAD v4 |
| 4 | g.54285887G>A | CA356894943 | PDGFRA | c.2486G>A (p.Gly829Glu) c.1766G>A (p.Gly589Glu) c.2561G>A (p.Gly854Glu) c.2525G>A (p.Gly842Glu) | dbSNP COSMIC |
| 4 | g.54285887G>C | CA356894944 | PDGFRA | c.2486G>C (p.Gly829Ala) c.1766G>C (p.Gly589Ala) c.2561G>C (p.Gly854Ala) c.2525G>C (p.Gly842Ala) | |
| 4 | g.54285887G>T | CA356894945 | PDGFRA | c.2486G>T (p.Gly829Val) c.1766G>T (p.Gly589Val) c.2561G>T (p.Gly854Val) c.2525G>T (p.Gly842Val) | |
| 4 | g.54285888A>C | CA439287800 | PDGFRA | c.2487A>C (p.Gly829=) c.1767A>C (p.Gly589=) c.2562A>C (p.Gly854=) c.2526A>C (p.Gly842=) | dbSNP |
| 4 | g.54285888A>G | CA439287799 | PDGFRA | c.2487A>G (p.Gly829=) c.1767A>G (p.Gly589=) c.2562A>G (p.Gly854=) c.2526A>G (p.Gly842=) | dbSNP |
| 4 | g.54285888A>T | CA439287798 | PDGFRA | c.2487A>T (p.Gly829=) c.1767A>T (p.Gly589=) c.2562A>T (p.Gly854=) c.2526A>T (p.Gly842=) | |
| 4 | g.54285889A>C | CA356894946 | PDGFRA | c.2488A>C (p.Lys830Gln) c.1768A>C (p.Lys590Gln) c.2563A>C (p.Lys855Gln) c.2527A>C (p.Lys843Gln) | |
| 4 | g.54285889A>G | CA356894948 | PDGFRA | c.2488A>G (p.Lys830Glu) c.1768A>G (p.Lys590Glu) c.2563A>G (p.Lys855Glu) c.2527A>G (p.Lys843Glu) | |
| 4 | g.54285889A>T | CA356894947 | PDGFRA | c.2488A>T (p.Lys830Ter) c.1768A>T (p.Lys590Ter) c.2563A>T (p.Lys855Ter) c.2527A>T (p.Lys843Ter) | dbSNP |
| 4 | g.54285890A= | CA1458544040 | PDGFRA | c.2489A= (p.Lys830=) c.1769A= (p.Lys590=) c.2564A= (p.Lys855=) c.2528A= (p.Lys843=) | |
| 4 | g.54285890A>C | CA356894949 | PDGFRA | c.2489A>C (p.Lys830Thr) c.1769A>C (p.Lys590Thr) c.2564A>C (p.Lys855Thr) c.2528A>C (p.Lys843Thr) | |
| 4 | g.54285890A>G | CA356894950 | PDGFRA | c.2489A>G (p.Lys830Arg) c.1769A>G (p.Lys590Arg) c.2564A>G (p.Lys855Arg) c.2528A>G (p.Lys843Arg) | ClinVar dbSNP |
| 4 | g.54285890A>T | CA356894951 | PDGFRA | c.2489A>T (p.Lys830Ile) c.1769A>T (p.Lys590Ile) c.2564A>T (p.Lys855Ile) c.2528A>T (p.Lys843Ile) | dbSNP |
| 4 | g.54285891A>C | CA356894952 | PDGFRA | c.2490A>C (p.Lys830Asn) c.1770A>C (p.Lys590Asn) c.2565A>C (p.Lys855Asn) c.2529A>C (p.Lys843Asn) | ClinVar dbSNP gnomAD v4 |
| 4 | g.54285891A>G | CA439287803 | PDGFRA | c.2490A>G (p.Lys830=) c.1770A>G (p.Lys590=) c.2565A>G (p.Lys855=) c.2529A>G (p.Lys843=) | |
| 4 | g.54285891A>T | CA356894953 | PDGFRA | c.2490A>T (p.Lys830Asn) c.1770A>T (p.Lys590Asn) c.2565A>T (p.Lys855Asn) c.2529A>T (p.Lys843Asn) | ClinVar |
| 4 | g.54285892A>C | CA356894954 | PDGFRA | c.2491A>C (p.Ile831Leu) c.1771A>C (p.Ile591Leu) c.2566A>C (p.Ile856Leu) c.2530A>C (p.Ile844Leu) | |
| 4 | g.54285892A>G | CA356894955 | PDGFRA | c.2491A>G (p.Ile831Val) c.1771A>G (p.Ile591Val) c.2566A>G (p.Ile856Val) c.2530A>G (p.Ile844Val) | |
| 4 | g.54285892A>T | CA356894956 | PDGFRA | c.2491A>T (p.Ile831Phe) c.1771A>T (p.Ile591Phe) c.2566A>T (p.Ile856Phe) c.2530A>T (p.Ile844Phe) | dbSNP |
| 4 | g.54285893_54285898dup | CA2670665663 | PDGFRA | c.2492_2497dup (p.Val832_Lys833insIleVal) c.1772_1777dup (p.Val592_Lys593insIleVal) c.2567_2572dup (p.Val857_Lys858insIleVal) c.2531_2536dup (p.Val845_Lys846insIleVal) | gnomAD v4 |
| 4 | g.54285893T>A | CA356894957 | PDGFRA | c.2492T>A (p.Ile831Asn) c.1772T>A (p.Ile591Asn) c.2567T>A (p.Ile856Asn) c.2531T>A (p.Ile844Asn) | dbSNP |
| 4 | g.54285893T>C | CA2922879 | PDGFRA | c.2492T>C (p.Ile831Thr) c.1772T>C (p.Ile591Thr) c.2567T>C (p.Ile856Thr) c.2531T>C (p.Ile844Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.54285893T>G | CA356894958 | PDGFRA | c.2492T>G (p.Ile831Ser) c.1772T>G (p.Ile591Ser) c.2567T>G (p.Ile856Ser) c.2531T>G (p.Ile844Ser) | |
| 4 | g.54285893T= | CA1458544044 | PDGFRA | c.2492T= (p.Ile831=) c.1772T= (p.Ile591=) c.2567T= (p.Ile856=) c.2531T= (p.Ile844=) | |
| 4 | g.54285894T>A | CA439287806 | PDGFRA | c.2493T>A (p.Ile831=) c.1773T>A (p.Ile591=) c.2568T>A (p.Ile856=) c.2532T>A (p.Ile844=) | dbSNP |
| 4 | g.54285894T>C | CA439287808 | PDGFRA | c.2493T>C (p.Ile831=) c.1773T>C (p.Ile591=) c.2568T>C (p.Ile856=) c.2532T>C (p.Ile844=) | dbSNP |
| 4 | g.54285894T>G | CA356894959 | PDGFRA | c.2493T>G (p.Ile831Met) c.1773T>G (p.Ile591Met) c.2568T>G (p.Ile856Met) c.2532T>G (p.Ile844Met) | |
| 4 | g.54285895G>A | CA356894961 | PDGFRA | c.2494G>A (p.Val832Met) c.1774G>A (p.Val592Met) c.2569G>A (p.Val857Met) c.2533G>A (p.Val845Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.54285895G>C | CA356894960 | PDGFRA | c.2494G>C (p.Val832Leu) c.1774G>C (p.Val592Leu) c.2569G>C (p.Val857Leu) c.2533G>C (p.Val845Leu) | dbSNP |
| 4 | g.54285895G= | CA1458544046 | PDGFRA | c.2494G= (p.Val832=) c.1774G= (p.Val592=) c.2569G= (p.Val857=) c.2533G= (p.Val845=) | |
| 4 | g.54285895G>T | CA356894962 | PDGFRA | c.2494G>T (p.Val832Leu) c.1774G>T (p.Val592Leu) c.2569G>T (p.Val857Leu) c.2533G>T (p.Val845Leu) | ClinVar |
| 4 | g.54285896T>A | CA356894963 | PDGFRA | c.2495T>A (p.Val832Glu) c.1775T>A (p.Val592Glu) c.2570T>A (p.Val857Glu) c.2534T>A (p.Val845Glu) | dbSNP |
| 4 | g.54285896T>C | CA356894964 | PDGFRA | c.2495T>C (p.Val832Ala) c.1775T>C (p.Val592Ala) c.2570T>C (p.Val857Ala) c.2534T>C (p.Val845Ala) | |
| 4 | g.54285896T>G | CA356894965 | PDGFRA | c.2495T>G (p.Val832Gly) c.1775T>G (p.Val592Gly) c.2570T>G (p.Val857Gly) c.2534T>G (p.Val845Gly) | dbSNP |
| 4 | g.54285897G>A | CA439287810 | PDGFRA | c.2496G>A (p.Val832=) c.1776G>A (p.Val592=) c.2571G>A (p.Val857=) c.2535G>A (p.Val845=) | dbSNP |
| 4 | g.54285897G>C | CA439287812 | PDGFRA | c.2496G>C (p.Val832=) c.1776G>C (p.Val592=) c.2571G>C (p.Val857=) c.2535G>C (p.Val845=) | ClinVar dbSNP |
| 4 | g.54285897G>T | CA439287813 | PDGFRA | c.2496G>T (p.Val832=) c.1776G>T (p.Val592=) c.2571G>T (p.Val857=) c.2535G>T (p.Val845=) | dbSNP |
| 4 | g.54285898A>C | CA356894966 | PDGFRA | c.2497A>C (p.Lys833Gln) c.1777A>C (p.Lys593Gln) c.2572A>C (p.Lys858Gln) c.2536A>C (p.Lys846Gln) | |
| 4 | g.54285898A>G | CA356894967 | PDGFRA | c.2497A>G (p.Lys833Glu) c.1777A>G (p.Lys593Glu) c.2572A>G (p.Lys858Glu) c.2536A>G (p.Lys846Glu) | |
| 4 | g.54285898A>T | CA356894968 | PDGFRA | c.2497A>T (p.Lys833Ter) c.1777A>T (p.Lys593Ter) c.2572A>T (p.Lys858Ter) c.2536A>T (p.Lys846Ter) | dbSNP |
| 4 | g.54285899A>C | CA356894971 | PDGFRA | c.2498A>C (p.Lys833Thr) c.1778A>C (p.Lys593Thr) c.2573A>C (p.Lys858Thr) c.2537A>C (p.Lys846Thr) | |
| 4 | g.54285899A>G | CA356894969 | PDGFRA | c.2498A>G (p.Lys833Arg) c.1778A>G (p.Lys593Arg) c.2573A>G (p.Lys858Arg) c.2537A>G (p.Lys846Arg) | dbSNP |
| 4 | g.54285899A>T | CA356894970 | PDGFRA | c.2498A>T (p.Lys833Met) c.1778A>T (p.Lys593Met) c.2573A>T (p.Lys858Met) c.2537A>T (p.Lys846Met) | dbSNP |
| 4 | g.54285900G>A | CA439287815 | PDGFRA | c.2499G>A (p.Lys833=) c.1779G>A (p.Lys593=) c.2574G>A (p.Lys858=) c.2538G>A (p.Lys846=) | ClinVar dbSNP |
| 4 | g.54285900G>C | CA356894972 | PDGFRA | c.2499G>C (p.Lys833Asn) c.1779G>C (p.Lys593Asn) c.2574G>C (p.Lys858Asn) c.2538G>C (p.Lys846Asn) | dbSNP |
| 4 | g.54285900G= | CA1458536917 | PDGFRA | c.2499G= (p.Lys833=) c.1779G= (p.Lys593=) c.2574G= (p.Lys858=) c.2538G= (p.Lys846=) | |
| 4 | g.54285900G>T | CA356894973 | PDGFRA | c.2499G>T (p.Lys833Asn) c.1779G>T (p.Lys593Asn) c.2574G>T (p.Lys858Asn) c.2538G>T (p.Lys846Asn) | |
| 4 | g.54285901A>C | CA356894974 | PDGFRA | c.2500A>C (p.Ile834Leu) c.1780A>C (p.Ile594Leu) c.2575A>C (p.Ile859Leu) c.2539A>C (p.Ile847Leu) | |
| 4 | g.54285901A>G | CA356894975 | PDGFRA | c.2500A>G (p.Ile834Val) c.1780A>G (p.Ile594Val) c.2575A>G (p.Ile859Val) c.2539A>G (p.Ile847Val) | |
| 4 | g.54285901A>T | CA356894976 | PDGFRA | c.2500A>T (p.Ile834Phe) c.1780A>T (p.Ile594Phe) c.2575A>T (p.Ile859Phe) c.2539A>T (p.Ile847Phe) | |
| 4 | g.54285902T>A | CA356894979 | PDGFRA | c.2501T>A (p.Ile834Asn) c.1781T>A (p.Ile594Asn) c.2576T>A (p.Ile859Asn) c.2540T>A (p.Ile847Asn) | dbSNP |
| 4 | g.54285902T>C | CA356894977 | PDGFRA | c.2501T>C (p.Ile834Thr) c.1781T>C (p.Ile594Thr) c.2576T>C (p.Ile859Thr) c.2540T>C (p.Ile847Thr) | |
| 4 | g.54285902T>G | CA356894978 | PDGFRA | c.2501T>G (p.Ile834Ser) c.1781T>G (p.Ile594Ser) c.2576T>G (p.Ile859Ser) c.2540T>G (p.Ile847Ser) | |
| 4 | g.54285903C>A | CA439287817 | PDGFRA | c.2502C>A (p.Ile834=) c.1782C>A (p.Ile594=) c.2577C>A (p.Ile859=) c.2541C>A (p.Ile847=) | dbSNP gnomAD v4 |
| 4 | g.54285903C>G | CA356894980 | PDGFRA | c.2502C>G (p.Ile834Met) c.1782C>G (p.Ile594Met) c.2577C>G (p.Ile859Met) c.2541C>G (p.Ile847Met) | dbSNP |
| 4 | g.54285903C>T | CA439287818 | PDGFRA | c.2502C>T (p.Ile834=) c.1782C>T (p.Ile594=) c.2577C>T (p.Ile859=) c.2541C>T (p.Ile847=) | ClinVar dbSNP |
| 4 | g.54285904T>A | CA356894981 | PDGFRA | c.2503T>A (p.Cys835Ser) c.1783T>A (p.Cys595Ser) c.2578T>A (p.Cys860Ser) c.2542T>A (p.Cys848Ser) | dbSNP |
| 4 | g.54285904T>C | CA356894982 | PDGFRA | c.2503T>C (p.Cys835Arg) c.1783T>C (p.Cys595Arg) c.2578T>C (p.Cys860Arg) c.2542T>C (p.Cys848Arg) | dbSNP |
| 4 | g.54285904T>G | CA356894983 | PDGFRA | c.2503T>G (p.Cys835Gly) c.1783T>G (p.Cys595Gly) c.2578T>G (p.Cys860Gly) c.2542T>G (p.Cys848Gly) | dbSNP |
| 4 | g.54285905G>A | CA356894984 | PDGFRA | c.2504G>A (p.Cys835Tyr) c.1784G>A (p.Cys595Tyr) c.2579G>A (p.Cys860Tyr) c.2543G>A (p.Cys848Tyr) | dbSNP |
| 4 | g.54285905G>C | CA356894985 | PDGFRA | c.2504G>C (p.Cys835Ser) c.1784G>C (p.Cys595Ser) c.2579G>C (p.Cys860Ser) c.2543G>C (p.Cys848Ser) | dbSNP |
| 4 | g.54285905G>T | CA356894986 | PDGFRA | c.2504G>T (p.Cys835Phe) c.1784G>T (p.Cys595Phe) c.2579G>T (p.Cys860Phe) c.2543G>T (p.Cys848Phe) | |
| 4 | g.54285905dup | CA2499217245 | PDGFRA | c.2504dup (p.Cys835TrpfsTer2) c.1784dup (p.Cys595TrpfsTer2) c.2579dup (p.Cys860TrpfsTer2) c.2543dup (p.Cys848TrpfsTer2) | ClinVar dbSNP |
| 4 | g.54285906T>A | CA356894987 | PDGFRA | c.2505T>A (p.Cys835Ter) c.1785T>A (p.Cys595Ter) c.2580T>A (p.Cys860Ter) c.2544T>A (p.Cys848Ter) | dbSNP |
| 4 | g.54285906T>C | CA439287822 | PDGFRA | c.2505T>C (p.Cys835=) c.1785T>C (p.Cys595=) c.2580T>C (p.Cys860=) c.2544T>C (p.Cys848=) | dbSNP |
| 4 | g.54285906T>G | CA356894988 | PDGFRA | c.2505T>G (p.Cys835Trp) c.1785T>G (p.Cys595Trp) c.2580T>G (p.Cys860Trp) c.2544T>G (p.Cys848Trp) | dbSNP |
| 4 | g.54285907G>A | CA356894989 | PDGFRA | c.2506G>A (p.Asp836Asn) c.1786G>A (p.Asp596Asn) c.2581G>A (p.Asp861Asn) c.2545G>A (p.Asp849Asn) | dbSNP COSMIC |
| 4 | g.54285907G>C | CA356894990 | PDGFRA | c.2506G>C (p.Asp836His) c.1786G>C (p.Asp596His) c.2581G>C (p.Asp861His) c.2545G>C (p.Asp849His) | dbSNP |
| 4 | g.54285907G>T | CA356894991 | PDGFRA | c.2506G>T (p.Asp836Tyr) c.1786G>T (p.Asp596Tyr) c.2581G>T (p.Asp861Tyr) c.2545G>T (p.Asp849Tyr) | dbSNP |
| 4 | g.54285908A>C | CA356894992 | PDGFRA | c.2507A>C (p.Asp836Ala) c.1787A>C (p.Asp596Ala) c.2582A>C (p.Asp861Ala) c.2546A>C (p.Asp849Ala) | |
| 4 | g.54285908A>G | CA356894994 | PDGFRA | c.2507A>G (p.Asp836Gly) c.1787A>G (p.Asp596Gly) c.2582A>G (p.Asp861Gly) c.2546A>G (p.Asp849Gly) | |
| 4 | g.54285908A>T | CA356894993 | PDGFRA | c.2507A>T (p.Asp836Val) c.1787A>T (p.Asp596Val) c.2582A>T (p.Asp861Val) c.2546A>T (p.Asp849Val) | dbSNP |
| 4 | g.54285909C>A | CA356894995 | PDGFRA | c.2508C>A (p.Asp836Glu) c.1788C>A (p.Asp596Glu) c.2583C>A (p.Asp861Glu) c.2547C>A (p.Asp849Glu) | |
| 4 | g.54285909C= | CA1458536925 | PDGFRA | c.2508C= (p.Asp836=) c.1788C= (p.Asp596=) c.2583C= (p.Asp861=) c.2547C= (p.Asp849=) | |
| 4 | g.54285909C>G | CA356894996 | PDGFRA | c.2508C>G (p.Asp836Glu) c.1788C>G (p.Asp596Glu) c.2583C>G (p.Asp861Glu) c.2547C>G (p.Asp849Glu) | COSMIC |
| 4 | g.54285909C>T | CA439287826 | PDGFRA | c.2508C>T (p.Asp836=) c.1788C>T (p.Asp596=) c.2583C>T (p.Asp861=) c.2547C>T (p.Asp849=) | ClinVar dbSNP |
| 4 | g.54285910T>A | CA356894997 | PDGFRA | c.2509T>A (p.Phe837Ile) c.1789T>A (p.Phe597Ile) c.2584T>A (p.Phe862Ile) c.2548T>A (p.Phe850Ile) | dbSNP |
| 4 | g.54285910T>C | CA356894998 | PDGFRA | c.2509T>C (p.Phe837Leu) c.1789T>C (p.Phe597Leu) c.2584T>C (p.Phe862Leu) c.2548T>C (p.Phe850Leu) | dbSNP |
| 4 | g.54285910T>G | CA356894999 | PDGFRA | c.2509T>G (p.Phe837Val) c.1789T>G (p.Phe597Val) c.2584T>G (p.Phe862Val) c.2548T>G (p.Phe850Val) | |
| 4 | g.54285911T>A | CA356895000 | PDGFRA | c.2510T>A (p.Phe837Tyr) c.1790T>A (p.Phe597Tyr) c.2585T>A (p.Phe862Tyr) c.2549T>A (p.Phe850Tyr) | |
| 4 | g.54285911T>C | CA356895001 | PDGFRA | c.2510T>C (p.Phe837Ser) c.1790T>C (p.Phe597Ser) c.2585T>C (p.Phe862Ser) c.2549T>C (p.Phe850Ser) | |
| 4 | g.54285911T>G | CA356895002 | PDGFRA | c.2510T>G (p.Phe837Cys) c.1790T>G (p.Phe597Cys) c.2585T>G (p.Phe862Cys) c.2549T>G (p.Phe850Cys) | |
| 4 | g.54285912T>A | CA356895003 | PDGFRA | c.2511T>A (p.Phe837Leu) c.1791T>A (p.Phe597Leu) c.2586T>A (p.Phe862Leu) c.2550T>A (p.Phe850Leu) | |
| 4 | g.54285912T>C | CA439287828 | PDGFRA | c.2511T>C (p.Phe837=) c.1791T>C (p.Phe597=) c.2586T>C (p.Phe862=) c.2550T>C (p.Phe850=) | |
| 4 | g.54285912T>G | CA356895004 | PDGFRA | c.2511T>G (p.Phe837Leu) c.1791T>G (p.Phe597Leu) c.2586T>G (p.Phe862Leu) c.2550T>G (p.Phe850Leu) | gnomAD v4 |
| 4 | g.54285913G>A | CA356895005 | PDGFRA | c.2512G>A (p.Gly838Ser) c.1792G>A (p.Gly598Ser) c.2587G>A (p.Gly863Ser) c.2551G>A (p.Gly851Ser) | dbSNP |
| 4 | g.54285913G>C | CA356895006 | PDGFRA | c.2512G>C (p.Gly838Arg) c.1792G>C (p.Gly598Arg) c.2587G>C (p.Gly863Arg) c.2551G>C (p.Gly851Arg) | dbSNP |
| 4 | g.54285913G>T | CA356895007 | PDGFRA | c.2512G>T (p.Gly838Cys) c.1792G>T (p.Gly598Cys) c.2587G>T (p.Gly863Cys) c.2551G>T (p.Gly851Cys) | dbSNP |
| 4 | g.54285914G>A | CA356895008 | PDGFRA | c.2513G>A (p.Gly838Asp) c.1793G>A (p.Gly598Asp) c.2588G>A (p.Gly863Asp) c.2552G>A (p.Gly851Asp) | ClinVar dbSNP |
| 4 | g.54285914G>C | CA356895010 | PDGFRA | c.2513G>C (p.Gly838Ala) c.1793G>C (p.Gly598Ala) c.2588G>C (p.Gly863Ala) c.2552G>C (p.Gly851Ala) | dbSNP |
| 4 | g.54285914G>T | CA356895009 | PDGFRA | c.2513G>T (p.Gly838Val) c.1793G>T (p.Gly598Val) c.2588G>T (p.Gly863Val) c.2552G>T (p.Gly851Val) | dbSNP COSMIC |
| 4 | g.54285915C>A | CA439287829 | PDGFRA | c.2514C>A (p.Gly838=) c.1794C>A (p.Gly598=) c.2589C>A (p.Gly863=) c.2553C>A (p.Gly851=) | dbSNP |
| 4 | g.54285915C>G | CA439287830 | PDGFRA | c.2514C>G (p.Gly838=) c.1794C>G (p.Gly598=) c.2589C>G (p.Gly863=) c.2553C>G (p.Gly851=) | dbSNP |
| 4 | g.54285915C>T | CA439287831 | PDGFRA | c.2514C>T (p.Gly838=) c.1794C>T (p.Gly598=) c.2589C>T (p.Gly863=) c.2553C>T (p.Gly851=) | dbSNP |
| 4 | g.54285916C>A | CA356895011 | PDGFRA | c.2515C>A (p.Leu839Met) c.1795C>A (p.Leu599Met) c.2590C>A (p.Leu864Met) c.2554C>A (p.Leu852Met) | dbSNP |
| 4 | g.54285916C>G | CA356895012 | PDGFRA | c.2515C>G (p.Leu839Val) c.1795C>G (p.Leu599Val) c.2590C>G (p.Leu864Val) c.2554C>G (p.Leu852Val) | dbSNP |
| 4 | g.54285916C>T | CA439287833 | PDGFRA | c.2515C>T (p.Leu839=) c.1795C>T (p.Leu599=) c.2590C>T (p.Leu864=) c.2554C>T (p.Leu852=) | dbSNP gnomAD v4 |
| 4 | g.54285917T>A | CA356895013 | PDGFRA | c.2516T>A (p.Leu839Gln) c.1796T>A (p.Leu599Gln) c.2591T>A (p.Leu864Gln) c.2555T>A (p.Leu852Gln) | |
| 4 | g.54285917T>C | CA356895014 | PDGFRA | c.2516T>C (p.Leu839Pro) c.1796T>C (p.Leu599Pro) c.2591T>C (p.Leu864Pro) c.2555T>C (p.Leu852Pro) | dbSNP |
| 4 | g.54285917T>G | CA356895015 | PDGFRA | c.2516T>G (p.Leu839Arg) c.1796T>G (p.Leu599Arg) c.2591T>G (p.Leu864Arg) c.2555T>G (p.Leu852Arg) | |
| 4 | g.54285918G>A | CA439287834 | PDGFRA | c.2517G>A (p.Leu839=) c.1797G>A (p.Leu599=) c.2592G>A (p.Leu864=) c.2556G>A (p.Leu852=) | ClinVar dbSNP |
| 4 | g.54285918G>C | CA439287836 | PDGFRA | c.2517G>C (p.Leu839=) c.1797G>C (p.Leu599=) c.2592G>C (p.Leu864=) c.2556G>C (p.Leu852=) | dbSNP |
| 4 | g.54285918G= | CA1458536938 | PDGFRA | c.2517G= (p.Leu839=) c.1797G= (p.Leu599=) c.2592G= (p.Leu864=) c.2556G= (p.Leu852=) | |
| 4 | g.54285918G>T | CA439287835 | PDGFRA | c.2517G>T (p.Leu839=) c.1797G>T (p.Leu599=) c.2592G>T (p.Leu864=) c.2556G>T (p.Leu852=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.54285919G>A | CA356895016 | PDGFRA | c.2518G>A (p.Ala840Thr) c.1798G>A (p.Ala600Thr) c.2593G>A (p.Ala865Thr) c.2557G>A (p.Ala853Thr) | dbSNP |
| 4 | g.54285919G>C | CA356895017 | PDGFRA | c.2518G>C (p.Ala840Pro) c.1798G>C (p.Ala600Pro) c.2593G>C (p.Ala865Pro) c.2557G>C (p.Ala853Pro) | dbSNP |
| 4 | g.54285919G= | CA1458536946 | PDGFRA | c.2518G= (p.Ala840=) c.1798G= (p.Ala600=) c.2593G= (p.Ala865=) c.2557G= (p.Ala853=) | |
| 4 | g.54285919G>T | CA356895018 | PDGFRA | c.2518G>T (p.Ala840Ser) c.1798G>T (p.Ala600Ser) c.2593G>T (p.Ala865Ser) c.2557G>T (p.Ala853Ser) | dbSNP COSMIC |
| 4 | g.54285920C>A | CA356895019 | PDGFRA | c.2519C>A (p.Ala840Asp) c.1799C>A (p.Ala600Asp) c.2594C>A (p.Ala865Asp) c.2558C>A (p.Ala853Asp) | dbSNP |
| 4 | g.54285920C>G | CA356895020 | PDGFRA | c.2519C>G (p.Ala840Gly) c.1799C>G (p.Ala600Gly) c.2594C>G (p.Ala865Gly) c.2558C>G (p.Ala853Gly) | dbSNP |
| 4 | g.54285920C>T | CA356895021 | PDGFRA | c.2519C>T (p.Ala840Val) c.1799C>T (p.Ala600Val) c.2594C>T (p.Ala865Val) c.2558C>T (p.Ala853Val) | dbSNP |
| 4 | g.54285920_54285926delinsCCAGAGA | CA1458536950 | PDGFRA | c.2519_2525delinsCCAGAGA (p.Ala840=) c.1799_1805delinsCCAGAGA (p.Ala600=) c.2594_2600delinsCCAGAGA (p.Ala865=) c.2558_2564delinsCCAGAGA (p.Ala853=) | |
| 4 | g.54285921C>A | CA439287838 | PDGFRA | c.2520C>A (p.Ala840=) c.1800C>A (p.Ala600=) c.2595C>A (p.Ala865=) c.2559C>A (p.Ala853=) | dbSNP |
| 4 | g.54285921C>G | CA439287839 | PDGFRA | c.2520C>G (p.Ala840=) c.1800C>G (p.Ala600=) c.2595C>G (p.Ala865=) c.2559C>G (p.Ala853=) | ClinVar dbSNP |
| 4 | g.54285921C>T | CA439287840 | PDGFRA | c.2520C>T (p.Ala840=) c.1800C>T (p.Ala600=) c.2595C>T (p.Ala865=) c.2559C>T (p.Ala853=) | dbSNP |
| 4 | g.54285923_54285928del | CA16602702 | PDGFRA | c.2522_2527del (p.Arg841_Asp842del) c.1802_1807del (p.Arg601_Asp602del) c.2597_2602del (p.Arg866_Asp867del) c.2561_2566del (p.Arg854_Asp855del) | ClinVar dbSNP COSMIC |
| 4 | g.54285922A= | CA1458536957 | PDGFRA | c.2521A= (p.Arg841=) c.1801A= (p.Arg601=) c.2596A= (p.Arg866=) c.2560A= (p.Arg854=) | |
| 4 | g.54285922A>C | CA439287841 | PDGFRA | c.2521A>C (p.Arg841=) c.1801A>C (p.Arg601=) c.2596A>C (p.Arg866=) c.2560A>C (p.Arg854=) | |
| 4 | g.54285922A>G | CA356895023 | PDGFRA | c.2521A>G (p.Arg841Gly) c.1801A>G (p.Arg601Gly) c.2596A>G (p.Arg866Gly) c.2560A>G (p.Arg854Gly) | dbSNP |
| 4 | g.54285922A>T | CA356895022 | PDGFRA | c.2521A>T (p.Arg841Ter) c.1801A>T (p.Arg601Ter) c.2596A>T (p.Arg866Ter) c.2560A>T (p.Arg854Ter) | dbSNP |
| 4 | g.54285923G>A | CA16602638 | PDGFRA | c.2522G>A (p.Arg841Lys) c.1802G>A (p.Arg601Lys) c.2597G>A (p.Arg866Lys) c.2561G>A (p.Arg854Lys) | ClinVar dbSNP |
| 4 | g.54285923G>C | CA356895025 | PDGFRA | c.2522G>C (p.Arg841Thr) c.1802G>C (p.Arg601Thr) c.2597G>C (p.Arg866Thr) c.2561G>C (p.Arg854Thr) | dbSNP |
| 4 | g.54285923G= | CA1458536962 | PDGFRA | c.2522G= (p.Arg841=) c.1802G= (p.Arg601=) c.2597G= (p.Arg866=) c.2561G= (p.Arg854=) | |
| 4 | g.54285923G>T | CA356895024 | PDGFRA | c.2522G>T (p.Arg841Ile) c.1802G>T (p.Arg601Ile) c.2597G>T (p.Arg866Ile) c.2561G>T (p.Arg854Ile) | |
| 4 | g.54285923_54285928delinsACC | CA891841821 | PDGFRA | c.2522_2527delinsACC (p.Arg841_Ile843delinsAsnLeu) c.1802_1807delinsACC (p.Arg601_Ile603delinsAsnLeu) c.2597_2602delinsACC (p.Arg866_Ile868delinsAsnLeu) c.2561_2566delinsACC (p.Arg854_Ile856delinsAsnLeu) | |
| 4 | g.54285924A= | CA1458536970 | PDGFRA | c.2523A= (p.Arg841=) c.1803A= (p.Arg601=) c.2598A= (p.Arg866=) c.2562A= (p.Arg854=) | |
| 4 | g.54285924A>C | CA356895026 | PDGFRA | c.2523A>C (p.Arg841Ser) c.1803A>C (p.Arg601Ser) c.2598A>C (p.Arg866Ser) c.2562A>C (p.Arg854Ser) | |
| 4 | g.54285924A>G | CA2922880 | PDGFRA | c.2523A>G (p.Arg841=) c.1803A>G (p.Arg601=) c.2598A>G (p.Arg866=) c.2562A>G (p.Arg854=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.54285924A>T | CA356895027 | PDGFRA | c.2523A>T (p.Arg841Ser) c.1803A>T (p.Arg601Ser) c.2598A>T (p.Arg866Ser) c.2562A>T (p.Arg854Ser) | dbSNP |
| 4 | g.54285924_54285932del | CA645526427 | PDGFRA | c.2523_2531del (p.Asp842_Met844del) c.1803_1811del (p.Asp602_Met604del) c.2598_2606del (p.Asp867_Met869del) c.2562_2570del (p.Asp855_Met857del) | dbSNP COSMIC |
| 4 | g.54285924_54285933delinsAGACATCATG | CA1458536968 | PDGFRA | c.2523_2532delinsAGACATCATG (p.Arg841=) c.1803_1812delinsAGACATCATG (p.Arg601=) c.2598_2607delinsAGACATCATG (p.Arg866=) c.2562_2571delinsAGACATCATG (p.Arg854=) | |
| 4 | g.54285924_54285936delinsAGACATCATGCAT | CA1458536972 | PDGFRA | c.2523_2535delinsAGACATCATGCAT (p.Arg841=) c.1803_1815delinsAGACATCATGCAT (p.Arg601=) c.2598_2610delinsAGACATCATGCAT (p.Arg866=) c.2562_2574delinsAGACATCATGCAT (p.Arg854=) | |
| 4 | g.54285924_54285937delinsAGACATCATGCATG | CA1458536967 | PDGFRA | c.2523_2536delinsAGACATCATGCATG (p.Arg841=) c.1803_1816delinsAGACATCATGCATG (p.Arg601=) c.2598_2611delinsAGACATCATGCATG (p.Arg866=) c.2562_2575delinsAGACATCATGCATG (p.Arg854=) | |
| 4 | g.54285925G>A | CA356895029 | PDGFRA | c.2524G>A (p.Asp842Asn) c.1804G>A (p.Asp602Asn) c.2599G>A (p.Asp867Asn) c.2563G>A (p.Asp855Asn) | dbSNP |
| 4 | g.54285925G>C | CA356895028 | PDGFRA | c.2524G>C (p.Asp842His) c.1804G>C (p.Asp602His) c.2599G>C (p.Asp867His) c.2563G>C (p.Asp855His) | dbSNP COSMIC |
| 4 | g.54285925G= | CA1458536996 | PDGFRA | c.2524G= (p.Asp842=) c.1804G= (p.Asp602=) c.2599G= (p.Asp867=) c.2563G= (p.Asp855=) | |
| 4 | g.54285925G>T | CA16602703 | PDGFRA | c.2524G>T (p.Asp842Tyr) c.1804G>T (p.Asp602Tyr) c.2599G>T (p.Asp867Tyr) c.2563G>T (p.Asp855Tyr) | ClinVar dbSNP COSMIC |
| 4 | g.54285925_54285926delinsAT | CA16602522 | PDGFRA | c.2524_2525delinsAT (p.Asp842Ile) c.1804_1805delinsAT (p.Asp602Ile) c.2599_2600delinsAT (p.Asp867Ile) c.2563_2564delinsAT (p.Asp855Ile) | ClinVar dbSNP COSMIC |
| 4 | g.54285925_54285926delinsGA | CA1458536999 | PDGFRA | c.2524_2525delinsGA (p.Asp842=) c.1804_1805delinsGA (p.Asp602=) c.2599_2600delinsGA (p.Asp867=) c.2563_2564delinsGA (p.Asp855=) | |
| 4 | g.54285925_54285926delinsTT | CA645526432 | PDGFRA | c.2524_2525delinsTT (p.Asp842Phe) c.1804_1805delinsTT (p.Asp602Phe) c.2599_2600delinsTT (p.Asp867Phe) c.2563_2564delinsTT (p.Asp855Phe) | dbSNP COSMIC |
| 4 | g.54285925_54285927del | CA645526428 | PDGFRA | c.2524_2526del (p.Asp842del) c.1804_1806del (p.Asp602del) c.2599_2601del (p.Asp867del) c.2563_2565del (p.Asp855del) | dbSNP COSMIC |
| 4 | g.54285925_54285927delinsTAT | CA645526429 | PDGFRA | c.2524_2526delinsTAT (p.Asp842Tyr) c.1804_1806delinsTAT (p.Asp602Tyr) c.2599_2601delinsTAT (p.Asp867Tyr) c.2563_2565delinsTAT (p.Asp855Tyr) | dbSNP COSMIC |
| 4 | g.54285925_54285933del | CA16602704 | PDGFRA | c.2524_2532del (p.Asp842_Met844del) c.1804_1812del (p.Asp602_Met604del) c.2599_2607del (p.Asp867_Met869del) c.2563_2571del (p.Asp855_Met857del) | ClinVar dbSNP COSMIC |
| 4 | g.54285925_54285934delinsT | CA645526430 | PDGFRA | c.2524_2533delinsT (p.Asp842_His845delinsTyr) c.1804_1813delinsT (p.Asp602_His605delinsTyr) c.2599_2608delinsT (p.Asp867_His870delinsTyr) c.2563_2572delinsT (p.Asp855_His858delinsTyr) | dbSNP COSMIC |
| 4 | g.54285925_54285935delinsGACATCATGCA | CA1458537006 | PDGFRA | c.2524_2534delinsGACATCATGCA (p.Asp842=) c.1804_1814delinsGACATCATGCA (p.Asp602=) c.2599_2609delinsGACATCATGCA (p.Asp867=) c.2563_2573delinsGACATCATGCA (p.Asp855=) | |
| 4 | g.54285925_54285937delinsA | CA96866763 | PDGFRA | c.2524_2536delinsA (p.Asp842_Asp846delinsAsn) c.1804_1816delinsA (p.Asp602_Asp606delinsAsn) c.2599_2611delinsA (p.Asp867_Asp871delinsAsn) c.2563_2575delinsA (p.Asp855_Asp859delinsAsn) | dbSNP COSMIC |
| 4 | g.54285925_54285938delinsAG | CA645526431 | PDGFRA | c.2524_2537delinsAG (p.Asp842_Asp846delinsSer) c.1804_1817delinsAG (p.Asp602_Asp606delinsSer) c.2599_2612delinsAG (p.Asp867_Asp871delinsSer) c.2563_2576delinsAG (p.Asp855_Asp859delinsSer) | dbSNP COSMIC |
| 4 | g.54285927_54285938del | CA123197 | PDGFRA | c.2526_2537del (p.Ile843_Asp846del) c.1806_1817del (p.Ile603_Asp606del) c.2601_2612del (p.Ile868_Asp871del) c.2565_2576del (p.Ile856_Asp859del) | ClinVar dbSNP COSMIC COSMIC |
| 4 | g.54285925_54285939delinsGACATCATGCATGAT | CA1458536994 | PDGFRA | c.2524_2538delinsGACATCATGCATGAT (p.Asp842=) c.1804_1818delinsGACATCATGCATGAT (p.Asp602=) c.2599_2613delinsGACATCATGCATGAT (p.Asp867=) c.2563_2577delinsGACATCATGCATGAT (p.Asp855=) | |
| 4 | g.54285926A= | CA1458537013 | PDGFRA | c.2525A= (p.Asp842=) c.1805A= (p.Asp602=) c.2600A= (p.Asp867=) c.2564A= (p.Asp855=) | |
| 4 | g.54285926A>C | CA356895030 | PDGFRA | c.2525A>C (p.Asp842Ala) c.1805A>C (p.Asp602Ala) c.2600A>C (p.Asp867Ala) c.2564A>C (p.Asp855Ala) | dbSNP |
| 4 | g.54285926A>G | CA356895031 | PDGFRA | c.2525A>G (p.Asp842Gly) c.1805A>G (p.Asp602Gly) c.2600A>G (p.Asp867Gly) c.2564A>G (p.Asp855Gly) | dbSNP |
| 4 | g.54285926A>T | CA123194 | PDGFRA | c.2525A>T (p.Asp842Val) c.1805A>T (p.Asp602Val) c.2600A>T (p.Asp867Val) c.2564A>T (p.Asp855Val) | ClinVar dbSNP COSMIC |
| 4 | g.54285926_54285928del | CA645526433 | PDGFRA | c.2525_2527del (p.Asp842_Ile843delinsVal) c.1805_1807del (p.Asp602_Ile603delinsVal) c.2600_2602del (p.Asp867_Ile868delinsVal) c.2564_2566del (p.Asp855_Ile856delinsVal) | dbSNP COSMIC |
| 4 | g.54285926_54285930delinsTCATG | CA658820703 | PDGFRA | c.2525_2529delinsTCATG (p.Asp842_Ile843delinsValMet) c.1805_1809delinsTCATG (p.Asp602_Ile603delinsValMet) c.2600_2604delinsTCATG (p.Asp867_Ile868delinsValMet) c.2564_2568delinsTCATG (p.Asp855_Ile856delinsValMet) | |
| 4 | g.54285926_54285935delinsT | CA96866769 | PDGFRA | c.2525_2534delinsT (p.Asp842_His845delinsVal) c.1805_1814delinsT (p.Asp602_His605delinsVal) c.2600_2609delinsT (p.Asp867_His870delinsVal) c.2564_2573delinsT (p.Asp855_His858delinsVal) | dbSNP COSMIC |
| 4 | g.54285926_54285939delinsGA | CA96866767 | PDGFRA | c.2525_2538delinsGA (p.Asp842_Asp846delinsGly) c.1805_1818delinsGA (p.Asp602_Asp606delinsGly) c.2600_2613delinsGA (p.Asp867_Asp871delinsGly) c.2564_2577delinsGA (p.Asp855_Asp859delinsGly) | dbSNP COSMIC |
| 4 | g.54285926_54285939delinsACATCATGCATGAT | CA1458537015 | PDGFRA | c.2525_2538delinsACATCATGCATGAT (p.Asp842=) c.1805_1818delinsACATCATGCATGAT (p.Asp602=) c.2600_2613delinsACATCATGCATGAT (p.Asp867=) c.2564_2577delinsACATCATGCATGAT (p.Asp855=) | |
| 4 | g.54285926_54285942delinsACATCATGCATGATTCG | CA1458537017 | PDGFRA | c.2525_2541delinsACATCATGCATGATTCG (p.Asp842=) c.1805_1821delinsACATCATGCATGATTCG (p.Asp602=) c.2600_2616delinsACATCATGCATGATTCG (p.Asp867=) c.2564_2580delinsACATCATGCATGATTCG (p.Asp855=) | |
| 4 | g.54285927C>A | CA356895032 | PDGFRA | c.2526C>A (p.Asp842Glu) c.1806C>A (p.Asp602Glu) c.2601C>A (p.Asp867Glu) c.2565C>A (p.Asp855Glu) | dbSNP |
| 4 | g.54285927C= | CA1458537023 | PDGFRA | c.2526C= (p.Asp842=) c.1806C= (p.Asp602=) c.2601C= (p.Asp867=) c.2565C= (p.Asp855=) | |
| 4 | g.54285927C>G | CA356895033 | PDGFRA | c.2526C>G (p.Asp842Glu) c.1806C>G (p.Asp602Glu) c.2601C>G (p.Asp867Glu) c.2565C>G (p.Asp855Glu) | dbSNP |
| 4 | g.54285927C>T | CA439287846 | PDGFRA | c.2526C>T (p.Asp842=) c.1806C>T (p.Asp602=) c.2601C>T (p.Asp867=) c.2565C>T (p.Asp855=) | dbSNP |
| 4 | g.54285930_54285932del | CA645526434 | PDGFRA | c.2529_2531del (p.Ile843del) c.1809_1811del (p.Ile603del) c.2604_2606del (p.Ile868del) c.2568_2570del (p.Ile856del) | dbSNP COSMIC |
| 4 | g.54285927_54285938delinsGACATCATGCAT | CA96866778 | PDGFRA | c.2526_2537delinsGACATCATGCAT (p.Asp842_Asp846delinsGluThrSerCysIle) c.1806_1817delinsGACATCATGCAT (p.Asp602_Asp606delinsGluThrSerCysIle) c.2601_2612delinsGACATCATGCAT (p.Asp867_Asp871delinsGluThrSerCysIle) c.2565_2576delinsGACATCATGCAT (p.Asp855_Asp859delinsGluThrSerCysIle) | |
| 4 | g.54285927_54285939delinsG | CA96866772 | PDGFRA | c.2526_2538delinsG (p.Asp842_Asp846delinsGlu) c.1806_1818delinsG (p.Asp602_Asp606delinsGlu) c.2601_2613delinsG (p.Asp867_Asp871delinsGlu) c.2565_2577delinsG (p.Asp855_Asp859delinsGlu) | dbSNP COSMIC |
| 4 | g.54285927_54285939delinsCATCATGCATGAT | CA1458537024 | PDGFRA | c.2526_2538delinsCATCATGCATGAT (p.Asp842=) c.1806_1818delinsCATCATGCATGAT (p.Asp602=) c.2601_2613delinsCATCATGCATGAT (p.Asp867=) c.2565_2577delinsCATCATGCATGAT (p.Asp855=) | |
| 4 | g.54285927_54285942delinsGGCC | CA96866787 | PDGFRA | c.2526_2541delinsGGCC (p.Asp842_Ser847delinsGluAla) c.1806_1821delinsGGCC (p.Asp602_Ser607delinsGluAla) c.2601_2616delinsGGCC (p.Asp867_Ser872delinsGluAla) c.2565_2580delinsGGCC (p.Asp855_Ser860delinsGluAla) | dbSNP COSMIC |
| 4 | g.54285928A>C | CA356895036 | PDGFRA | c.2527A>C (p.Ile843Leu) c.1807A>C (p.Ile603Leu) c.2602A>C (p.Ile868Leu) c.2566A>C (p.Ile856Leu) | |
| 4 | g.54285928A>G | CA356895035 | PDGFRA | c.2527A>G (p.Ile843Val) c.1807A>G (p.Ile603Val) c.2602A>G (p.Ile868Val) c.2566A>G (p.Ile856Val) | |
| 4 | g.54285928A>T | CA356895034 | PDGFRA | c.2527A>T (p.Ile843Phe) c.1807A>T (p.Ile603Phe) c.2602A>T (p.Ile868Phe) c.2566A>T (p.Ile856Phe) | |
| 4 | g.54285928_54285939del | CA16602705 | PDGFRA | c.2527_2538del (p.Ile843_Asp846del) c.1807_1818del (p.Ile603_Asp606del) c.2602_2613del (p.Ile868_Asp871del) c.2566_2577del (p.Ile856_Asp859del) | ClinVar dbSNP COSMIC |
| 4 | g.54285928_54285940delinsATCATGCATGATT | CA1458537029 | PDGFRA | c.2527_2539delinsATCATGCATGATT (p.Ile843=) c.1807_1819delinsATCATGCATGATT (p.Ile603=) c.2602_2614delinsATCATGCATGATT (p.Ile868=) c.2566_2578delinsATCATGCATGATT (p.Ile856=) | |
| 4 | g.54285929T>A | CA356895037 | PDGFRA | c.2528T>A (p.Ile843Asn) c.1808T>A (p.Ile603Asn) c.2603T>A (p.Ile868Asn) c.2567T>A (p.Ile856Asn) | |
| 4 | g.54285929T>C | CA356895038 | PDGFRA | c.2528T>C (p.Ile843Thr) c.1808T>C (p.Ile603Thr) c.2603T>C (p.Ile868Thr) c.2567T>C (p.Ile856Thr) | gnomAD v4 |
| 4 | g.54285929T>G | CA356895039 | PDGFRA | c.2528T>G (p.Ile843Ser) c.1808T>G (p.Ile603Ser) c.2603T>G (p.Ile868Ser) c.2567T>G (p.Ile856Ser) | |
| 4 | g.54285929_54285940del | CA96866793 | PDGFRA | c.2528_2539del (p.Ile843_Ser847delinsThr) c.1808_1819del (p.Ile603_Ser607delinsThr) c.2603_2614del (p.Ile868_Ser872delinsThr) c.2567_2578del (p.Ile856_Ser860delinsThr) | dbSNP COSMIC |
| 4 | g.54285930C>A | CA439287850 | PDGFRA | c.2529C>A (p.Ile843=) c.1809C>A (p.Ile603=) c.2604C>A (p.Ile868=) c.2568C>A (p.Ile856=) | |
| 4 | g.54285930C= | CA1458537030 | PDGFRA | c.2529C= (p.Ile843=) c.1809C= (p.Ile603=) c.2604C= (p.Ile868=) c.2568C= (p.Ile856=) | |
| 4 | g.54285930C>G | CA356895040 | PDGFRA | c.2529C>G (p.Ile843Met) c.1809C>G (p.Ile603Met) c.2604C>G (p.Ile868Met) c.2568C>G (p.Ile856Met) | dbSNP |
| 4 | g.54285930C>T | CA439287851 | PDGFRA | c.2529C>T (p.Ile843=) c.1809C>T (p.Ile603=) c.2604C>T (p.Ile868=) c.2568C>T (p.Ile856=) | dbSNP |
| 4 | g.54285931A>C | CA356895041 | PDGFRA | c.2530A>C (p.Met844Leu) c.1810A>C (p.Met604Leu) c.2605A>C (p.Met869Leu) c.2569A>C (p.Met857Leu) | |
| 4 | g.54285931A>G | CA356895042 | PDGFRA | c.2530A>G (p.Met844Val) c.1810A>G (p.Met604Val) c.2605A>G (p.Met869Val) c.2569A>G (p.Met857Val) | COSMIC |
| 4 | g.54285931A>T | CA356895043 | PDGFRA | c.2530A>T (p.Met844Leu) c.1810A>T (p.Met604Leu) c.2605A>T (p.Met869Leu) c.2569A>T (p.Met857Leu) | dbSNP |
| 4 | g.54285932_54285943del | CA645526435 | PDGFRA | c.2531_2542del (p.Met844_Ser847del) c.1811_1822del (p.Met604_Ser607del) c.2606_2617del (p.Met869_Ser872del) c.2570_2581del (p.Met857_Ser860del) | COSMIC |
| 4 | g.54285932T>A | CA356895045 | PDGFRA | c.2531T>A (p.Met844Lys) c.1811T>A (p.Met604Lys) c.2606T>A (p.Met869Lys) c.2570T>A (p.Met857Lys) | dbSNP |
| 4 | g.54285932T>C | CA2922881 | PDGFRA | c.2531T>C (p.Met844Thr) c.1811T>C (p.Met604Thr) c.2606T>C (p.Met869Thr) c.2570T>C (p.Met857Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.54285932T>G | CA356895044 | PDGFRA | c.2531T>G (p.Met844Arg) c.1811T>G (p.Met604Arg) c.2606T>G (p.Met869Arg) c.2570T>G (p.Met857Arg) | |
| 4 | g.54285932T= | CA1458537031 | PDGFRA | c.2531T= (p.Met844=) c.1811T= (p.Met604=) c.2606T= (p.Met869=) c.2570T= (p.Met857=) | |
| 4 | g.54285933G>A | CA96866798 | PDGFRA | c.2532G>A (p.Met844Ile) c.1812G>A (p.Met604Ile) c.2607G>A (p.Met869Ile) c.2571G>A (p.Met857Ile) | ClinVar dbSNP COSMIC |
| 4 | g.54285933G>C | CA356895046 | PDGFRA | c.2532G>C (p.Met844Ile) c.1812G>C (p.Met604Ile) c.2607G>C (p.Met869Ile) c.2571G>C (p.Met857Ile) | dbSNP |
| 4 | g.54285933G= | CA1458537033 | PDGFRA | c.2532G= (p.Met844=) c.1812G= (p.Met604=) c.2607G= (p.Met869=) c.2571G= (p.Met857=) | |
| 4 | g.54285933G>T | CA356895047 | PDGFRA | c.2532G>T (p.Met844Ile) c.1812G>T (p.Met604Ile) c.2607G>T (p.Met869Ile) c.2571G>T (p.Met857Ile) | |
| 4 | g.54285933_54285945delinsGCATGATTCGAAC | CA1458537032 | PDGFRA | c.2532_2544delinsGCATGATTCGAAC (p.Met844=) c.1812_1824delinsGCATGATTCGAAC (p.Met604=) c.2607_2619delinsGCATGATTCGAAC (p.Met869=) c.2571_2583delinsGCATGATTCGAAC (p.Met857=) | |
| 4 | g.54285934C>A | CA356895048 | PDGFRA | c.2533C>A (p.His845Asn) c.1813C>A (p.His605Asn) c.2608C>A (p.His870Asn) c.2572C>A (p.His858Asn) | |
| 4 | g.54285934C= | CA1458537034 | PDGFRA | c.2533C= (p.His845=) c.1813C= (p.His605=) c.2608C= (p.His870=) c.2572C= (p.His858=) | |
| 4 | g.54285934C>G | CA356895049 | PDGFRA | c.2533C>G (p.His845Asp) c.1813C>G (p.His605Asp) c.2608C>G (p.His870Asp) c.2572C>G (p.His858Asp) | dbSNP |
| 4 | g.54285934C>T | CA16602639 | PDGFRA | c.2533C>T (p.His845Tyr) c.1813C>T (p.His605Tyr) c.2608C>T (p.His870Tyr) c.2572C>T (p.His858Tyr) | ClinVar dbSNP COSMIC |
| 4 | g.54285934_54285944delinsCATGATTCGAA | CA1458537035 | PDGFRA | c.2533_2543delinsCATGATTCGAA (p.His845=) c.1813_1823delinsCATGATTCGAA (p.His605=) c.2608_2618delinsCATGATTCGAA (p.His870=) c.2572_2582delinsCATGATTCGAA (p.His858=) | |
| 4 | g.54285934_54285945del | CA123200 | PDGFRA | c.2533_2544del (p.His845_Asn848del) c.1813_1824del (p.His605_Asn608del) c.2608_2619del (p.His870_Asn873del) c.2572_2583del (p.His858_Asn861del) | ClinVar dbSNP |
| 4 | g.54285935A= | CA1458537037 | PDGFRA | c.2534A= (p.His845=) c.1814A= (p.His605=) c.2609A= (p.His870=) c.2573A= (p.His858=) | |
| 4 | g.54285935A>C | CA356895050 | PDGFRA | c.2534A>C (p.His845Pro) c.1814A>C (p.His605Pro) c.2609A>C (p.His870Pro) c.2573A>C (p.His858Pro) | |
| 4 | g.54285935A>G | CA2922882 | PDGFRA | c.2534A>G (p.His845Arg) c.1814A>G (p.His605Arg) c.2609A>G (p.His870Arg) c.2573A>G (p.His858Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.54285935A>T | CA356895051 | PDGFRA | c.2534A>T (p.His845Leu) c.1814A>T (p.His605Leu) c.2609A>T (p.His870Leu) c.2573A>T (p.His858Leu) | dbSNP |
| 4 | g.54285935_54285944delinsC | CA96866806 | PDGFRA | c.2534_2543delinsC (p.His845_Asn848delinsPro) c.1814_1823delinsC (p.His605_Asn608delinsPro) c.2609_2618delinsC (p.His870_Asn873delinsPro) c.2573_2582delinsC (p.His858_Asn861delinsPro) | dbSNP COSMIC |
| 4 | g.54285936_54285944del | CA2499217246 | PDGFRA | c.2535_2543del (p.Asp846_Asn848del) c.1815_1823del (p.Asp606_Asn608del) c.2610_2618del (p.Asp871_Asn873del) c.2574_2582del (p.Asp859_Asn861del) | ClinVar dbSNP |