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 |
|---|---|---|---|---|---|
| 19 | g.40394814_40394850dup | CA2585127048 | PRX | c.3511_3547dup (p.Tyr1183SerfsTer33) c.3094_3130dup (p.Tyr1044SerfsTer33) c.3796_3832dup (p.Tyr1278SerfsTer33) c.3386_3422dup c.3372_3408dup c.3473_3509dup c.3398_3434dup c.*3716_*3752dup (n.*3716_*3752dup) c.3409_3445dup (p.Tyr1149SerfsTer33) | gnomAD v4 |
| 19 | g.40394819_40394822delinsTCTG | CA2335960855 | PRX | c.3530_3533delinsCAGA (p.Ala1177=) c.3113_3116delinsCAGA (p.Ala1038=) c.3815_3818delinsCAGA (p.Ala1272=) c.3405_3408delinsCAGA c.3391_3394delinsCAGA c.3492_3495delinsCAGA c.3417_3420delinsCAGA c.*3735_*3738delinsCAGA (n.*3735_*3738delinsCAGA) c.3428_3431delinsCAGA (p.Ala1143=) | |
| 19 | g.40394823_40394825del | CA9443837 | PRX | c.3530_3532del (p.Ala1177del) c.3113_3115del (p.Ala1038del) c.3815_3817del (p.Ala1272del) c.3405_3407del c.3391_3393del c.3492_3494del c.3417_3419del c.*3735_*3737del (n.*3735_*3737del) c.3428_3430del (p.Ala1143del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40394821T>A | CA507678267 | PRX | c.3531A>T (p.Ala1177=) c.3114A>T (p.Ala1038=) c.3816A>T (p.Ala1272=) c.3406A>T c.3392A>T c.3493A>T c.3418A>T c.*3736A>T (n.*3736A>T) c.3429A>T (p.Ala1143=) | |
| 19 | g.40394821T>C | CA507678268 | PRX | c.3531A>G (p.Ala1177=) c.3114A>G (p.Ala1038=) c.3816A>G (p.Ala1272=) c.3406A>G c.3392A>G c.3493A>G c.3418A>G c.*3736A>G (n.*3736A>G) c.3429A>G (p.Ala1143=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.40394821T>G | CA507678269 | PRX | c.3531A>C (p.Ala1177=) c.3114A>C (p.Ala1038=) c.3816A>C (p.Ala1272=) c.3406A>C c.3392A>C c.3493A>C c.3418A>C c.*3736A>C (n.*3736A>C) c.3429A>C (p.Ala1143=) | |
| 19 | g.40394821T= | CA2335960857 | PRX | c.3531A= (p.Ala1177=) c.3114A= (p.Ala1038=) c.3816A= (p.Ala1272=) c.3406A= c.3392A= c.3493A= c.3418A= c.*3736A= (n.*3736A=) c.3429A= (p.Ala1143=) | |
| 19 | g.40394822G>A | CA405893312 | PRX | c.3530C>T (p.Ala1177Val) c.3113C>T (p.Ala1038Val) c.3815C>T (p.Ala1272Val) c.3405C>T c.3391C>T c.3492C>T c.3417C>T c.*3735C>T (n.*3735C>T) c.3428C>T (p.Ala1143Val) | |
| 19 | g.40394822G>C | CA405893313 | PRX | c.3530C>G (p.Ala1177Gly) c.3113C>G (p.Ala1038Gly) c.3815C>G (p.Ala1272Gly) c.3405C>G c.3391C>G c.3492C>G c.3417C>G c.*3735C>G (n.*3735C>G) c.3428C>G (p.Ala1143Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40394822G= | CA2335960858 | PRX | c.3530C= (p.Ala1177=) c.3113C= (p.Ala1038=) c.3815C= (p.Ala1272=) c.3405C= c.3391C= c.3492C= c.3417C= c.*3735C= (n.*3735C=) c.3428C= (p.Ala1143=) | |
| 19 | g.40394822G>T | CA405893315 | PRX | c.3530C>A (p.Ala1177Glu) c.3113C>A (p.Ala1038Glu) c.3815C>A (p.Ala1272Glu) c.3405C>A c.3391C>A c.3492C>A c.3417C>A c.*3735C>A (n.*3735C>A) c.3428C>A (p.Ala1143Glu) | |
| 19 | g.40394823C>A | CA405893318 | PRX | c.3529G>T (p.Ala1177Ser) c.3112G>T (p.Ala1038Ser) c.3814G>T (p.Ala1272Ser) c.3404G>T c.3390G>T c.3491G>T c.3416G>T c.*3734G>T (n.*3734G>T) c.3427G>T (p.Ala1143Ser) | |
| 19 | g.40394823C>G | CA405893319 | PRX | c.3529G>C (p.Ala1177Pro) c.3112G>C (p.Ala1038Pro) c.3814G>C (p.Ala1272Pro) c.3404G>C c.3390G>C c.3491G>C c.3416G>C c.*3734G>C (n.*3734G>C) c.3427G>C (p.Ala1143Pro) | |
| 19 | g.40394823C>T | CA405893321 | PRX | c.3529G>A (p.Ala1177Thr) c.3112G>A (p.Ala1038Thr) c.3814G>A (p.Ala1272Thr) c.3404G>A c.3390G>A c.3491G>A c.3416G>A c.*3734G>A (n.*3734G>A) c.3427G>A (p.Ala1143Thr) | |
| 19 | g.40394824T>A | CA507678272 | PRX | c.3528A>T (p.Ser1176=) c.3111A>T (p.Ser1037=) c.3813A>T (p.Ser1271=) c.3403A>T c.3389A>T c.3490A>T c.3415A>T c.*3733A>T (n.*3733A>T) c.3426A>T (p.Ser1142=) | |
| 19 | g.40394824T>C | CA507678273 | PRX | c.3528A>G (p.Ser1176=) c.3111A>G (p.Ser1037=) c.3813A>G (p.Ser1271=) c.3403A>G c.3389A>G c.3490A>G c.3415A>G c.*3733A>G (n.*3733A>G) c.3426A>G (p.Ser1142=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40394824T>G | CA507678274 | PRX | c.3528A>C (p.Ser1176=) c.3111A>C (p.Ser1037=) c.3813A>C (p.Ser1271=) c.3403A>C c.3389A>C c.3490A>C c.3415A>C c.*3733A>C (n.*3733A>C) c.3426A>C (p.Ser1142=) | |
| 19 | g.40394824T= | CA2335960859 | PRX | c.3528A= (p.Ser1176=) c.3111A= (p.Ser1037=) c.3813A= (p.Ser1271=) c.3403A= c.3389A= c.3490A= c.3415A= c.*3733A= (n.*3733A=) c.3426A= (p.Ser1142=) | |
| 19 | g.40394825G>A | CA9443839 | PRX | c.3527C>T (p.Ser1176Leu) c.3110C>T (p.Ser1037Leu) c.3812C>T (p.Ser1271Leu) c.3402C>T c.3388C>T c.3489C>T c.3414C>T c.*3732C>T (n.*3732C>T) c.3425C>T (p.Ser1142Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.40394825G>C | CA405893324 | PRX | c.3527C>G (p.Ser1176Ter) c.3110C>G (p.Ser1037Ter) c.3812C>G (p.Ser1271Ter) c.3402C>G c.3388C>G c.3489C>G c.3414C>G c.*3732C>G (n.*3732C>G) c.3425C>G (p.Ser1142Ter) | |
| 19 | g.40394825G= | CA2335960860 | PRX | c.3527C= (p.Ser1176=) c.3110C= (p.Ser1037=) c.3812C= (p.Ser1271=) c.3402C= c.3388C= c.3489C= c.3414C= c.*3732C= (n.*3732C=) c.3425C= (p.Ser1142=) | |
| 19 | g.40394825G>T | CA405893326 | PRX | c.3527C>A (p.Ser1176Ter) c.3110C>A (p.Ser1037Ter) c.3812C>A (p.Ser1271Ter) c.3402C>A c.3388C>A c.3489C>A c.3414C>A c.*3732C>A (n.*3732C>A) c.3425C>A (p.Ser1142Ter) | |
| 19 | g.40394826A>C | CA405893328 | PRX | c.3526T>G (p.Ser1176Ala) c.3109T>G (p.Ser1037Ala) c.3811T>G (p.Ser1271Ala) c.3401T>G c.3387T>G c.3488T>G c.3413T>G c.*3731T>G (n.*3731T>G) c.3424T>G (p.Ser1142Ala) | |
| 19 | g.40394826A>G | CA405893329 | PRX | c.3526T>C (p.Ser1176Pro) c.3109T>C (p.Ser1037Pro) c.3811T>C (p.Ser1271Pro) c.3401T>C c.3387T>C c.3488T>C c.3413T>C c.*3731T>C (n.*3731T>C) c.3424T>C (p.Ser1142Pro) | |
| 19 | g.40394826A>T | CA405893331 | PRX | c.3526T>A (p.Ser1176Thr) c.3109T>A (p.Ser1037Thr) c.3811T>A (p.Ser1271Thr) c.3401T>A c.3387T>A c.3488T>A c.3413T>A c.*3731T>A (n.*3731T>A) c.3424T>A (p.Ser1142Thr) | |
| 19 | g.40394827A>C | CA507678280 | PRX | c.3525T>G (p.Pro1175=) c.3108T>G (p.Pro1036=) c.3810T>G (p.Pro1270=) c.3400T>G c.3386T>G c.3487T>G c.3412T>G c.*3730T>G (n.*3730T>G) c.3423T>G (p.Pro1141=) | |
| 19 | g.40394827A>G | CA507678279 | PRX | c.3525T>C (p.Pro1175=) c.3108T>C (p.Pro1036=) c.3810T>C (p.Pro1270=) c.3400T>C c.3386T>C c.3487T>C c.3412T>C c.*3730T>C (n.*3730T>C) c.3423T>C (p.Pro1141=) | |
| 19 | g.40394827A>T | CA507678278 | PRX | c.3525T>A (p.Pro1175=) c.3108T>A (p.Pro1036=) c.3810T>A (p.Pro1270=) c.3400T>A c.3386T>A c.3487T>A c.3412T>A c.*3730T>A (n.*3730T>A) c.3423T>A (p.Pro1141=) | |
| 19 | g.40394828G>A | CA405893335 | PRX | c.3524C>T (p.Pro1175Leu) c.3107C>T (p.Pro1036Leu) c.3809C>T (p.Pro1270Leu) c.3399C>T c.3385C>T c.3486C>T c.3411C>T c.*3729C>T (n.*3729C>T) c.3422C>T (p.Pro1141Leu) | dbSNP gnomAD v2 |
| 19 | g.40394828G>C | CA405893332 | PRX | c.3524C>G (p.Pro1175Arg) c.3107C>G (p.Pro1036Arg) c.3809C>G (p.Pro1270Arg) c.3399C>G c.3385C>G c.3486C>G c.3411C>G c.*3729C>G (n.*3729C>G) c.3422C>G (p.Pro1141Arg) | |
| 19 | g.40394828G= | CA2335960861 | PRX | c.3524C= (p.Pro1175=) c.3107C= (p.Pro1036=) c.3809C= (p.Pro1270=) c.3399C= c.3385C= c.3486C= c.3411C= c.*3729C= (n.*3729C=) c.3422C= (p.Pro1141=) | |
| 19 | g.40394828G>T | CA405893333 | PRX | c.3524C>A (p.Pro1175His) c.3107C>A (p.Pro1036His) c.3809C>A (p.Pro1270His) c.3399C>A c.3385C>A c.3486C>A c.3411C>A c.*3729C>A (n.*3729C>A) c.3422C>A (p.Pro1141His) | |
| 19 | g.40394829G>A | CA405893337 | PRX | c.3523C>T (p.Pro1175Ser) c.3106C>T (p.Pro1036Ser) c.3808C>T (p.Pro1270Ser) c.3398C>T c.3384C>T c.3485C>T c.3410C>T c.*3728C>T (n.*3728C>T) c.3421C>T (p.Pro1141Ser) | dbSNP |
| 19 | g.40394829G>C | CA405893339 | PRX | c.3523C>G (p.Pro1175Ala) c.3106C>G (p.Pro1036Ala) c.3808C>G (p.Pro1270Ala) c.3398C>G c.3384C>G c.3485C>G c.3410C>G c.*3728C>G (n.*3728C>G) c.3421C>G (p.Pro1141Ala) | |
| 19 | g.40394829G>T | CA405893341 | PRX | c.3523C>A (p.Pro1175Thr) c.3106C>A (p.Pro1036Thr) c.3808C>A (p.Pro1270Thr) c.3398C>A c.3384C>A c.3485C>A c.3410C>A c.*3728C>A (n.*3728C>A) c.3421C>A (p.Pro1141Thr) | |
| 19 | g.40394830G>A | CA507678282 | PRX | c.3522C>T (p.Val1174=) c.3105C>T (p.Val1035=) c.3807C>T (p.Val1269=) c.3397C>T c.3383C>T c.3484C>T c.3409C>T c.*3727C>T (n.*3727C>T) c.3420C>T (p.Val1140=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40394830G>C | CA507678283 | PRX | c.3522C>G (p.Val1174=) c.3105C>G (p.Val1035=) c.3807C>G (p.Val1269=) c.3397C>G c.3383C>G c.3484C>G c.3409C>G c.*3727C>G (n.*3727C>G) c.3420C>G (p.Val1140=) | |
| 19 | g.40394830G= | CA2335960862 | PRX | c.3522C= (p.Val1174=) c.3105C= (p.Val1035=) c.3807C= (p.Val1269=) c.3397C= c.3383C= c.3484C= c.3409C= c.*3727C= (n.*3727C=) c.3420C= (p.Val1140=) | |
| 19 | g.40394830G>T | CA507678285 | PRX | c.3522C>A (p.Val1174=) c.3105C>A (p.Val1035=) c.3807C>A (p.Val1269=) c.3397C>A c.3383C>A c.3484C>A c.3409C>A c.*3727C>A (n.*3727C>A) c.3420C>A (p.Val1140=) | |
| 19 | g.40394831A>C | CA405893343 | PRX | c.3521T>G (p.Val1174Gly) c.3104T>G (p.Val1035Gly) c.3806T>G (p.Val1269Gly) c.3396T>G c.3382T>G c.3483T>G c.3408T>G c.*3726T>G (n.*3726T>G) c.3419T>G (p.Val1140Gly) | |
| 19 | g.40394831A>G | CA405893345 | PRX | c.3521T>C (p.Val1174Ala) c.3104T>C (p.Val1035Ala) c.3806T>C (p.Val1269Ala) c.3396T>C c.3382T>C c.3483T>C c.3408T>C c.*3726T>C (n.*3726T>C) c.3419T>C (p.Val1140Ala) | |
| 19 | g.40394831A>T | CA405893347 | PRX | c.3521T>A (p.Val1174Asp) c.3104T>A (p.Val1035Asp) c.3806T>A (p.Val1269Asp) c.3396T>A c.3382T>A c.3483T>A c.3408T>A c.*3726T>A (n.*3726T>A) c.3419T>A (p.Val1140Asp) | |
| 19 | g.40394832C>A | CA405893349 | PRX | c.3520G>T (p.Val1174Phe) c.3103G>T (p.Val1035Phe) c.3805G>T (p.Val1269Phe) c.3395G>T c.3381G>T c.3482G>T c.3407G>T c.*3725G>T (n.*3725G>T) c.3418G>T (p.Val1140Phe) | |
| 19 | g.40394832C>G | CA405893351 | PRX | c.3520G>C (p.Val1174Leu) c.3103G>C (p.Val1035Leu) c.3805G>C (p.Val1269Leu) c.3395G>C c.3381G>C c.3482G>C c.3407G>C c.*3725G>C (n.*3725G>C) c.3418G>C (p.Val1140Leu) | |
| 19 | g.40394832C>T | CA405893353 | PRX | c.3520G>A (p.Val1174Ile) c.3103G>A (p.Val1035Ile) c.3805G>A (p.Val1269Ile) c.3395G>A c.3381G>A c.3482G>A c.3407G>A c.*3725G>A (n.*3725G>A) c.3418G>A (p.Val1140Ile) | |
| 19 | g.40394833T>A | CA507678286 | PRX | c.3519A>T (p.Thr1173=) c.3102A>T (p.Thr1034=) c.3804A>T (p.Thr1268=) c.3394A>T c.3380A>T c.3481A>T c.3406A>T c.*3724A>T (n.*3724A>T) c.3417A>T (p.Thr1139=) | |
| 19 | g.40394833T>C | CA9443840 | PRX | c.3519A>G (p.Thr1173=) c.3102A>G (p.Thr1034=) c.3804A>G (p.Thr1268=) c.3394A>G c.3380A>G c.3481A>G c.3406A>G c.*3724A>G (n.*3724A>G) c.3417A>G (p.Thr1139=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40394833T>G | CA9443841 | PRX | c.3519A>C (p.Thr1173=) c.3102A>C (p.Thr1034=) c.3804A>C (p.Thr1268=) c.3394A>C c.3380A>C c.3481A>C c.3406A>C c.*3724A>C (n.*3724A>C) c.3417A>C (p.Thr1139=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40394833T= | CA2335960863 | PRX | c.3519A= (p.Thr1173=) c.3102A= (p.Thr1034=) c.3804A= (p.Thr1268=) c.3394A= c.3380A= c.3481A= c.3406A= c.*3724A= (n.*3724A=) c.3417A= (p.Thr1139=) | |
| 19 | g.40394834G>A | CA405893358 | PRX | c.3518C>T (p.Thr1173Ile) c.3101C>T (p.Thr1034Ile) c.3803C>T (p.Thr1268Ile) c.3393C>T c.3379C>T c.3480C>T c.3405C>T c.*3723C>T (n.*3723C>T) c.3416C>T (p.Thr1139Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40394834G>C | CA405893362 | PRX | c.3518C>G (p.Thr1173Arg) c.3101C>G (p.Thr1034Arg) c.3803C>G (p.Thr1268Arg) c.3393C>G c.3379C>G c.3480C>G c.3405C>G c.*3723C>G (n.*3723C>G) c.3416C>G (p.Thr1139Arg) | |
| 19 | g.40394834G= | CA2335960864 | PRX | c.3518C= (p.Thr1173=) c.3101C= (p.Thr1034=) c.3803C= (p.Thr1268=) c.3393C= c.3379C= c.3480C= c.3405C= c.*3723C= (n.*3723C=) c.3416C= (p.Thr1139=) | |
| 19 | g.40394834G>T | CA405893360 | PRX | c.3518C>A (p.Thr1173Lys) c.3101C>A (p.Thr1034Lys) c.3803C>A (p.Thr1268Lys) c.3393C>A c.3379C>A c.3480C>A c.3405C>A c.*3723C>A (n.*3723C>A) c.3416C>A (p.Thr1139Lys) | |
| 19 | g.40394835T>A | CA405893364 | PRX | c.3517A>T (p.Thr1173Ser) c.3100A>T (p.Thr1034Ser) c.3802A>T (p.Thr1268Ser) c.3392A>T c.3378A>T c.3479A>T c.3404A>T c.*3722A>T (n.*3722A>T) c.3415A>T (p.Thr1139Ser) | |
| 19 | g.40394835T>C | CA405893365 | PRX | c.3517A>G (p.Thr1173Ala) c.3100A>G (p.Thr1034Ala) c.3802A>G (p.Thr1268Ala) c.3392A>G c.3378A>G c.3479A>G c.3404A>G c.*3722A>G (n.*3722A>G) c.3415A>G (p.Thr1139Ala) | gnomAD v4 COSMIC |
| 19 | g.40394835T>G | CA405893367 | PRX | c.3517A>C (p.Thr1173Pro) c.3100A>C (p.Thr1034Pro) c.3802A>C (p.Thr1268Pro) c.3392A>C c.3378A>C c.3479A>C c.3404A>C c.*3722A>C (n.*3722A>C) c.3415A>C (p.Thr1139Pro) | |
| 19 | g.40394836A>C | CA405893369 | PRX | c.3516T>G (p.Ser1172Arg) c.3099T>G (p.Ser1033Arg) c.3801T>G (p.Ser1267Arg) c.3391T>G c.3377T>G c.3478T>G c.3403T>G c.*3721T>G (n.*3721T>G) c.3414T>G (p.Ser1138Arg) | |
| 19 | g.40394836A>G | CA507678289 | PRX | c.3516T>C (p.Ser1172=) c.3099T>C (p.Ser1033=) c.3801T>C (p.Ser1267=) c.3391T>C c.3377T>C c.3478T>C c.3403T>C c.*3721T>C (n.*3721T>C) c.3414T>C (p.Ser1138=) | |
| 19 | g.40394836A>T | CA405893371 | PRX | c.3516T>A (p.Ser1172Arg) c.3099T>A (p.Ser1033Arg) c.3801T>A (p.Ser1267Arg) c.3391T>A c.3377T>A c.3478T>A c.3403T>A c.*3721T>A (n.*3721T>A) c.3414T>A (p.Ser1138Arg) | |
| 19 | g.40394837C>A | CA405893373 | PRX | c.3515G>T (p.Ser1172Ile) c.3098G>T (p.Ser1033Ile) c.3800G>T (p.Ser1267Ile) c.3390G>T c.3376G>T c.3477G>T c.3402G>T c.*3720G>T (n.*3720G>T) c.3413G>T (p.Ser1138Ile) | |
| 19 | g.40394837C= | CA2335960865 | PRX | c.3515G= (p.Ser1172=) c.3098G= (p.Ser1033=) c.3800G= (p.Ser1267=) c.3390G= c.3376G= c.3477G= c.3402G= c.*3720G= (n.*3720G=) c.3413G= (p.Ser1138=) | |
| 19 | g.40394837C>G | CA405893375 | PRX | c.3515G>C (p.Ser1172Thr) c.3098G>C (p.Ser1033Thr) c.3800G>C (p.Ser1267Thr) c.3390G>C c.3376G>C c.3477G>C c.3402G>C c.*3720G>C (n.*3720G>C) c.3413G>C (p.Ser1138Thr) | |
| 19 | g.40394837C>T | CA308416882 | PRX | c.3515G>A (p.Ser1172Asn) c.3098G>A (p.Ser1033Asn) c.3800G>A (p.Ser1267Asn) c.3390G>A c.3376G>A c.3477G>A c.3402G>A c.*3720G>A (n.*3720G>A) c.3413G>A (p.Ser1138Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40394838T>A | CA405893378 | PRX | c.3514A>T (p.Ser1172Cys) c.3097A>T (p.Ser1033Cys) c.3799A>T (p.Ser1267Cys) c.3389A>T c.3375A>T c.3476A>T c.3401A>T c.*3719A>T (n.*3719A>T) c.3412A>T (p.Ser1138Cys) | |
| 19 | g.40394838T>C | CA405893380 | PRX | c.3514A>G (p.Ser1172Gly) c.3097A>G (p.Ser1033Gly) c.3799A>G (p.Ser1267Gly) c.3389A>G c.3375A>G c.3476A>G c.3401A>G c.*3719A>G (n.*3719A>G) c.3412A>G (p.Ser1138Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40394838T>G | CA405893382 | PRX | c.3514A>C (p.Ser1172Arg) c.3097A>C (p.Ser1033Arg) c.3799A>C (p.Ser1267Arg) c.3389A>C c.3375A>C c.3476A>C c.3401A>C c.*3719A>C (n.*3719A>C) c.3412A>C (p.Ser1138Arg) | |
| 19 | g.40394838T= | CA2335960866 | PRX | c.3514A= (p.Ser1172=) c.3097A= (p.Ser1033=) c.3799A= (p.Ser1267=) c.3389A= c.3375A= c.3476A= c.3401A= c.*3719A= (n.*3719A=) c.3412A= (p.Ser1138=) | |
| 19 | g.40394839C>A | CA405893384 | PRX | c.3513G>T (p.Gln1171His) c.3096G>T (p.Gln1032His) c.3798G>T (p.Gln1266His) c.3388G>T c.3374G>T c.3475G>T c.3400G>T c.*3718G>T (n.*3718G>T) c.3411G>T (p.Gln1137His) | gnomAD v4 |
| 19 | g.40394839C>G | CA405893386 | PRX | c.3513G>C (p.Gln1171His) c.3096G>C (p.Gln1032His) c.3798G>C (p.Gln1266His) c.3388G>C c.3374G>C c.3475G>C c.3400G>C c.*3718G>C (n.*3718G>C) c.3411G>C (p.Gln1137His) | |
| 19 | g.40394839C>T | CA507678290 | PRX | c.3513G>A (p.Gln1171=) c.3096G>A (p.Gln1032=) c.3798G>A (p.Gln1266=) c.3388G>A c.3374G>A c.3475G>A c.3400G>A c.*3718G>A (n.*3718G>A) c.3411G>A (p.Gln1137=) | COSMIC |
| 19 | g.40394840T>A | CA405893392 | PRX | c.3512A>T (p.Gln1171Leu) c.3095A>T (p.Gln1032Leu) c.3797A>T (p.Gln1266Leu) c.3387A>T c.3373A>T c.3474A>T c.3399A>T c.*3717A>T (n.*3717A>T) c.3410A>T (p.Gln1137Leu) | |
| 19 | g.40394840T>C | CA405893390 | PRX | c.3512A>G (p.Gln1171Arg) c.3095A>G (p.Gln1032Arg) c.3797A>G (p.Gln1266Arg) c.3387A>G c.3373A>G c.3474A>G c.3399A>G c.*3717A>G (n.*3717A>G) c.3410A>G (p.Gln1137Arg) | dbSNP |
| 19 | g.40394840T>G | CA405893388 | PRX | c.3512A>C (p.Gln1171Pro) c.3095A>C (p.Gln1032Pro) c.3797A>C (p.Gln1266Pro) c.3387A>C c.3373A>C c.3474A>C c.3399A>C c.*3717A>C (n.*3717A>C) c.3410A>C (p.Gln1137Pro) | |
| 19 | g.40394840T= | CA2335960867 | PRX | c.3512A= (p.Gln1171=) c.3095A= (p.Gln1032=) c.3797A= (p.Gln1266=) c.3387A= c.3373A= c.3474A= c.3399A= c.*3717A= (n.*3717A=) c.3410A= (p.Gln1137=) | |
| 19 | g.40394841G>A | CA9443842 | PRX | c.3511C>T (p.Gln1171Ter) c.3094C>T (p.Gln1032Ter) c.3796C>T (p.Gln1266Ter) c.3386C>T c.3372C>T c.3473C>T c.3398C>T c.*3716C>T (n.*3716C>T) c.3409C>T (p.Gln1137Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40394841G>C | CA405893395 | PRX | c.3511C>G (p.Gln1171Glu) c.3094C>G (p.Gln1032Glu) c.3796C>G (p.Gln1266Glu) c.3386C>G c.3372C>G c.3473C>G c.3398C>G c.*3716C>G (n.*3716C>G) c.3409C>G (p.Gln1137Glu) | |
| 19 | g.40394841G= | CA2335960868 | PRX | c.3511C= (p.Gln1171=) c.3094C= (p.Gln1032=) c.3796C= (p.Gln1266=) c.3386C= c.3372C= c.3473C= c.3398C= c.*3716C= (n.*3716C=) c.3409C= (p.Gln1137=) | |
| 19 | g.40394841G>T | CA405893397 | PRX | c.3511C>A (p.Gln1171Lys) c.3094C>A (p.Gln1032Lys) c.3796C>A (p.Gln1266Lys) c.3386C>A c.3372C>A c.3473C>A c.3398C>A c.*3716C>A (n.*3716C>A) c.3409C>A (p.Gln1137Lys) | |
| 19 | g.40394842A>C | CA507678292 | PRX | c.3510T>G (p.Ala1170=) c.3093T>G (p.Ala1031=) c.3795T>G (p.Ala1265=) c.3385T>G c.3371T>G c.3472T>G c.3397T>G c.*3715T>G (n.*3715T>G) c.3408T>G (p.Ala1136=) | |
| 19 | g.40394842A>G | CA507678294 | PRX | c.3510T>C (p.Ala1170=) c.3093T>C (p.Ala1031=) c.3795T>C (p.Ala1265=) c.3385T>C c.3371T>C c.3472T>C c.3397T>C c.*3715T>C (n.*3715T>C) c.3408T>C (p.Ala1136=) | |
| 19 | g.40394842A>T | CA507678296 | PRX | c.3510T>A (p.Ala1170=) c.3093T>A (p.Ala1031=) c.3795T>A (p.Ala1265=) c.3385T>A c.3371T>A c.3472T>A c.3397T>A c.*3715T>A (n.*3715T>A) c.3408T>A (p.Ala1136=) | |
| 19 | g.40394843G>A | CA405893399 | PRX | c.3509C>T (p.Ala1170Val) c.3092C>T (p.Ala1031Val) c.3794C>T (p.Ala1265Val) c.3384C>T c.3370C>T c.3471C>T c.3396C>T c.*3714C>T (n.*3714C>T) c.3407C>T (p.Ala1136Val) | |
| 19 | g.40394843G>C | CA405893401 | PRX | c.3509C>G (p.Ala1170Gly) c.3092C>G (p.Ala1031Gly) c.3794C>G (p.Ala1265Gly) c.3384C>G c.3370C>G c.3471C>G c.3396C>G c.*3714C>G (n.*3714C>G) c.3407C>G (p.Ala1136Gly) | |
| 19 | g.40394843G>T | CA405893402 | PRX | c.3509C>A (p.Ala1170Asp) c.3092C>A (p.Ala1031Asp) c.3794C>A (p.Ala1265Asp) c.3384C>A c.3370C>A c.3471C>A c.3396C>A c.*3714C>A (n.*3714C>A) c.3407C>A (p.Ala1136Asp) | gnomAD v4 |
| 19 | g.40394844C>A | CA405893404 | PRX | c.3508G>T (p.Ala1170Ser) c.3091G>T (p.Ala1031Ser) c.3793G>T (p.Ala1265Ser) c.3383G>T c.3369G>T c.3470G>T c.3395G>T c.*3713G>T (n.*3713G>T) c.3406G>T (p.Ala1136Ser) | |
| 19 | g.40394844C= | CA2335960869 | PRX | c.3508G= (p.Ala1170=) c.3091G= (p.Ala1031=) c.3793G= (p.Ala1265=) c.3383G= c.3369G= c.3470G= c.3395G= c.*3713G= (n.*3713G=) c.3406G= (p.Ala1136=) | |
| 19 | g.40394844C>G | CA405893405 | PRX | c.3508G>C (p.Ala1170Pro) c.3091G>C (p.Ala1031Pro) c.3793G>C (p.Ala1265Pro) c.3383G>C c.3369G>C c.3470G>C c.3395G>C c.*3713G>C (n.*3713G>C) c.3406G>C (p.Ala1136Pro) | |
| 19 | g.40394844C>T | CA9443843 | PRX | c.3508G>A (p.Ala1170Thr) c.3091G>A (p.Ala1031Thr) c.3793G>A (p.Ala1265Thr) c.3383G>A c.3369G>A c.3470G>A c.3395G>A c.*3713G>A (n.*3713G>A) c.3406G>A (p.Ala1136Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40394845C>A | CA405893408 | PRX | c.3507G>T (p.Gln1169His) c.3090G>T (p.Gln1030His) c.3792G>T (p.Gln1264His) c.3382G>T c.3368G>T c.3469G>T c.3394G>T c.*3712G>T (n.*3712G>T) c.3405G>T (p.Gln1135His) | |
| 19 | g.40394845C= | CA2335960870 | PRX | c.3507G= (p.Gln1169=) c.3090G= (p.Gln1030=) c.3792G= (p.Gln1264=) c.3382G= c.3368G= c.3469G= c.3394G= c.*3712G= (n.*3712G=) c.3405G= (p.Gln1135=) | |
| 19 | g.40394845C>G | CA405893410 | PRX | c.3507G>C (p.Gln1169His) c.3090G>C (p.Gln1030His) c.3792G>C (p.Gln1264His) c.3382G>C c.3368G>C c.3469G>C c.3394G>C c.*3712G>C (n.*3712G>C) c.3405G>C (p.Gln1135His) | |
| 19 | g.40394845C>T | CA507678299 | PRX | c.3507G>A (p.Gln1169=) c.3090G>A (p.Gln1030=) c.3792G>A (p.Gln1264=) c.3382G>A c.3368G>A c.3469G>A c.3394G>A c.*3712G>A (n.*3712G>A) c.3405G>A (p.Gln1135=) | dbSNP gnomAD v4 |
| 19 | g.40394845_40394846delinsCT | CA2335960871 | PRX | c.3506_3507delinsAG (p.Gln1169=) c.3089_3090delinsAG (p.Gln1030=) c.3791_3792delinsAG (p.Gln1264=) c.3381_3382delinsAG c.3367_3368delinsAG c.3468_3469delinsAG c.3393_3394delinsAG c.*3711_*3712delinsAG (n.*3711_*3712delinsAG) c.3404_3405delinsAG (p.Gln1135=) | |
| 19 | g.40394846del | CA2335960872 | PRX | c.3506del (p.Gln1169ArgfsTer22) c.3089del (p.Gln1030ArgfsTer22) c.3791del (p.Gln1264ArgfsTer22) c.3381del c.3367del c.3468del c.3393del c.*3711del (n.*3711del) c.3404del (p.Gln1135ArgfsTer22) | dbSNP |
| 19 | g.40394846T>A | CA405893412 | PRX | c.3506A>T (p.Gln1169Leu) c.3089A>T (p.Gln1030Leu) c.3791A>T (p.Gln1264Leu) c.3381A>T c.3367A>T c.3468A>T c.3393A>T c.*3711A>T (n.*3711A>T) c.3404A>T (p.Gln1135Leu) | |
| 19 | g.40394846T>C | CA405893413 | PRX | c.3506A>G (p.Gln1169Arg) c.3089A>G (p.Gln1030Arg) c.3791A>G (p.Gln1264Arg) c.3381A>G c.3367A>G c.3468A>G c.3393A>G c.*3711A>G (n.*3711A>G) c.3404A>G (p.Gln1135Arg) | |
| 19 | g.40394846T>G | CA405893416 | PRX | c.3506A>C (p.Gln1169Pro) c.3089A>C (p.Gln1030Pro) c.3791A>C (p.Gln1264Pro) c.3381A>C c.3367A>C c.3468A>C c.3393A>C c.*3711A>C (n.*3711A>C) c.3404A>C (p.Gln1135Pro) | |
| 19 | g.40394847G>A | CA9443844 | PRX | c.3505C>T (p.Gln1169Ter) c.3088C>T (p.Gln1030Ter) c.3790C>T (p.Gln1264Ter) c.3380C>T c.3366C>T c.3467C>T c.3392C>T c.*3710C>T (n.*3710C>T) c.3403C>T (p.Gln1135Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.40394847G>C | CA405893421 | PRX | c.3505C>G (p.Gln1169Glu) c.3088C>G (p.Gln1030Glu) c.3790C>G (p.Gln1264Glu) c.3380C>G c.3366C>G c.3467C>G c.3392C>G c.*3710C>G (n.*3710C>G) c.3403C>G (p.Gln1135Glu) | |
| 19 | g.40394847G= | CA2335960873 | PRX | c.3505C= (p.Gln1169=) c.3088C= (p.Gln1030=) c.3790C= (p.Gln1264=) c.3380C= c.3366C= c.3467C= c.3392C= c.*3710C= (n.*3710C=) c.3403C= (p.Gln1135=) | |
| 19 | g.40394847G>T | CA405893418 | PRX | c.3505C>A (p.Gln1169Lys) c.3088C>A (p.Gln1030Lys) c.3790C>A (p.Gln1264Lys) c.3380C>A c.3366C>A c.3467C>A c.3392C>A c.*3710C>A (n.*3710C>A) c.3403C>A (p.Gln1135Lys) | gnomAD v4 |
| 19 | g.40394848C>A | CA405893423 | PRX | c.3504G>T (p.Gln1168His) c.3087G>T (p.Gln1029His) c.3789G>T (p.Gln1263His) c.3379G>T c.3365G>T c.3466G>T c.3391G>T c.*3709G>T (n.*3709G>T) c.3402G>T (p.Gln1134His) | gnomAD v4 |
| 19 | g.40394848C>G | CA405893425 | PRX | c.3504G>C (p.Gln1168His) c.3087G>C (p.Gln1029His) c.3789G>C (p.Gln1263His) c.3379G>C c.3365G>C c.3466G>C c.3391G>C c.*3709G>C (n.*3709G>C) c.3402G>C (p.Gln1134His) | |
| 19 | g.40394848C>T | CA507678302 | PRX | c.3504G>A (p.Gln1168=) c.3087G>A (p.Gln1029=) c.3789G>A (p.Gln1263=) c.3379G>A c.3365G>A c.3466G>A c.3391G>A c.*3709G>A (n.*3709G>A) c.3402G>A (p.Gln1134=) | |
| 19 | g.40394849T>A | CA405893428 | PRX | c.3503A>T (p.Gln1168Leu) c.3086A>T (p.Gln1029Leu) c.3788A>T (p.Gln1263Leu) c.3378A>T c.3364A>T c.3465A>T c.3390A>T c.*3708A>T (n.*3708A>T) c.3401A>T (p.Gln1134Leu) | dbSNP gnomAD v2 |
| 19 | g.40394849T>C | CA405893429 | PRX | c.3503A>G (p.Gln1168Arg) c.3086A>G (p.Gln1029Arg) c.3788A>G (p.Gln1263Arg) c.3378A>G c.3364A>G c.3465A>G c.3390A>G c.*3708A>G (n.*3708A>G) c.3401A>G (p.Gln1134Arg) | |
| 19 | g.40394849T>G | CA405893431 | PRX | c.3503A>C (p.Gln1168Pro) c.3086A>C (p.Gln1029Pro) c.3788A>C (p.Gln1263Pro) c.3378A>C c.3364A>C c.3465A>C c.3390A>C c.*3708A>C (n.*3708A>C) c.3401A>C (p.Gln1134Pro) | |
| 19 | g.40394849T= | CA2335960874 | PRX | c.3503A= (p.Gln1168=) c.3086A= (p.Gln1029=) c.3788A= (p.Gln1263=) c.3378A= c.3364A= c.3465A= c.3390A= c.*3708A= (n.*3708A=) c.3401A= (p.Gln1134=) | |
| 19 | g.40394850G>A | CA405893432 | PRX | c.3502C>T (p.Gln1168Ter) c.3085C>T (p.Gln1029Ter) c.3787C>T (p.Gln1263Ter) c.3377C>T c.3363C>T c.3464C>T c.3389C>T c.*3707C>T (n.*3707C>T) c.3400C>T (p.Gln1134Ter) | ClinVar dbSNP |
| 19 | g.40394850G>C | CA405893433 | PRX | c.3502C>G (p.Gln1168Glu) c.3085C>G (p.Gln1029Glu) c.3787C>G (p.Gln1263Glu) c.3377C>G c.3363C>G c.3464C>G c.3389C>G c.*3707C>G (n.*3707C>G) c.3400C>G (p.Gln1134Glu) | |
| 19 | g.40394850G>T | CA405893434 | PRX | c.3502C>A (p.Gln1168Lys) c.3085C>A (p.Gln1029Lys) c.3787C>A (p.Gln1263Lys) c.3377C>A c.3363C>A c.3464C>A c.3389C>A c.*3707C>A (n.*3707C>A) c.3400C>A (p.Gln1134Lys) | gnomAD v4 |
| 19 | g.40394851C>A | CA507678303 | PRX | c.3501G>T (p.Gly1167=) c.3084G>T (p.Gly1028=) c.3786G>T (p.Gly1262=) c.3376G>T c.3362G>T c.3463G>T c.3388G>T c.*3706G>T (n.*3706G>T) c.3399G>T (p.Gly1133=) | gnomAD v4 |
| 19 | g.40394851C= | CA2335960875 | PRX | c.3501G= (p.Gly1167=) c.3084G= (p.Gly1028=) c.3786G= (p.Gly1262=) c.3376G= c.3362G= c.3463G= c.3388G= c.*3706G= (n.*3706G=) c.3399G= (p.Gly1133=) | |
| 19 | g.40394851C>G | CA507678304 | PRX | c.3501G>C (p.Gly1167=) c.3084G>C (p.Gly1028=) c.3786G>C (p.Gly1262=) c.3376G>C c.3362G>C c.3463G>C c.3388G>C c.*3706G>C (n.*3706G>C) c.3399G>C (p.Gly1133=) | |
| 19 | g.40394851C>T | CA507678306 | PRX | c.3501G>A (p.Gly1167=) c.3084G>A (p.Gly1028=) c.3786G>A (p.Gly1262=) c.3376G>A c.3362G>A c.3463G>A c.3388G>A c.*3706G>A (n.*3706G>A) c.3399G>A (p.Gly1133=) | dbSNP gnomAD v2 |
| 19 | g.40394852C>A | CA405893436 | PRX | c.3500G>T (p.Gly1167Val) c.3083G>T (p.Gly1028Val) c.3785G>T (p.Gly1262Val) c.3375G>T c.3361G>T c.3462G>T c.3387G>T c.*3705G>T (n.*3705G>T) c.3398G>T (p.Gly1133Val) | |
| 19 | g.40394852C>G | CA405893437 | PRX | c.3500G>C (p.Gly1167Ala) c.3083G>C (p.Gly1028Ala) c.3785G>C (p.Gly1262Ala) c.3375G>C c.3361G>C c.3462G>C c.3387G>C c.*3705G>C (n.*3705G>C) c.3398G>C (p.Gly1133Ala) | |
| 19 | g.40394852C>T | CA405893438 | PRX | c.3500G>A (p.Gly1167Glu) c.3083G>A (p.Gly1028Glu) c.3785G>A (p.Gly1262Glu) c.3375G>A c.3361G>A c.3462G>A c.3387G>A c.*3705G>A (n.*3705G>A) c.3398G>A (p.Gly1133Glu) | |
| 19 | g.40394853C>A | CA405893444 | PRX | c.3499G>T (p.Gly1167Trp) c.3082G>T (p.Gly1028Trp) c.3784G>T (p.Gly1262Trp) c.3374G>T c.3360G>T c.3461G>T c.3386G>T c.*3704G>T (n.*3704G>T) c.3397G>T (p.Gly1133Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40394853C= | CA2335960876 | PRX | c.3499G= (p.Gly1167=) c.3082G= (p.Gly1028=) c.3784G= (p.Gly1262=) c.3374G= c.3360G= c.3461G= c.3386G= c.*3704G= (n.*3704G=) c.3397G= (p.Gly1133=) | |
| 19 | g.40394853C>G | CA405893442 | PRX | c.3499G>C (p.Gly1167Arg) c.3082G>C (p.Gly1028Arg) c.3784G>C (p.Gly1262Arg) c.3374G>C c.3360G>C c.3461G>C c.3386G>C c.*3704G>C (n.*3704G>C) c.3397G>C (p.Gly1133Arg) | |
| 19 | g.40394853C>T | CA405893441 | PRX | c.3499G>A (p.Gly1167Arg) c.3082G>A (p.Gly1028Arg) c.3784G>A (p.Gly1262Arg) c.3374G>A c.3360G>A c.3461G>A c.3386G>A c.*3704G>A (n.*3704G>A) c.3397G>A (p.Gly1133Arg) | dbSNP gnomAD v2 |
| 19 | g.40394854T>A | CA507678311 | PRX | c.3498A>T (p.Pro1166=) c.3081A>T (p.Pro1027=) c.3783A>T (p.Pro1261=) c.3373A>T c.3359A>T c.3460A>T c.3385A>T c.*3703A>T (n.*3703A>T) c.3396A>T (p.Pro1132=) | |
| 19 | g.40394854T>C | CA507678309 | PRX | c.3498A>G (p.Pro1166=) c.3081A>G (p.Pro1027=) c.3783A>G (p.Pro1261=) c.3373A>G c.3359A>G c.3460A>G c.3385A>G c.*3703A>G (n.*3703A>G) c.3396A>G (p.Pro1132=) | |
| 19 | g.40394854T>G | CA507678308 | PRX | c.3498A>C (p.Pro1166=) c.3081A>C (p.Pro1027=) c.3783A>C (p.Pro1261=) c.3373A>C c.3359A>C c.3460A>C c.3385A>C c.*3703A>C (n.*3703A>C) c.3396A>C (p.Pro1132=) | |
| 19 | g.40394855G>A | CA9443845 | PRX | c.3497C>T (p.Pro1166Leu) c.3080C>T (p.Pro1027Leu) c.3782C>T (p.Pro1261Leu) c.3372C>T c.3358C>T c.3459C>T c.3384C>T c.*3702C>T (n.*3702C>T) c.3395C>T (p.Pro1132Leu) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 19 | g.40394855G>C | CA405893448 | PRX | c.3497C>G (p.Pro1166Arg) c.3080C>G (p.Pro1027Arg) c.3782C>G (p.Pro1261Arg) c.3372C>G c.3358C>G c.3459C>G c.3384C>G c.*3702C>G (n.*3702C>G) c.3395C>G (p.Pro1132Arg) | |
| 19 | g.40394855G= | CA2335960877 | PRX | c.3497C= (p.Pro1166=) c.3080C= (p.Pro1027=) c.3782C= (p.Pro1261=) c.3372C= c.3358C= c.3459C= c.3384C= c.*3702C= (n.*3702C=) c.3395C= (p.Pro1132=) | |
| 19 | g.40394855G>T | CA405893450 | PRX | c.3497C>A (p.Pro1166Gln) c.3080C>A (p.Pro1027Gln) c.3782C>A (p.Pro1261Gln) c.3372C>A c.3358C>A c.3459C>A c.3384C>A c.*3702C>A (n.*3702C>A) c.3395C>A (p.Pro1132Gln) | |
| 19 | g.40394858del | CA2585127051 | PRX | c.3497del (p.Pro1166GlnfsTer25) c.3080del (p.Pro1027GlnfsTer25) c.3782del (p.Pro1261GlnfsTer25) c.3372del c.3358del c.3459del c.3384del c.*3702del (n.*3702del) c.3395del (p.Pro1132GlnfsTer25) | gnomAD v4 |
| 19 | g.40394856G>A | CA248994 | PRX | c.3496C>T (p.Pro1166Ser) c.3079C>T (p.Pro1027Ser) c.3781C>T (p.Pro1261Ser) c.3371C>T c.3357C>T c.3458C>T c.3383C>T c.*3701C>T (n.*3701C>T) c.3394C>T (p.Pro1132Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40394856G>C | CA405893453 | PRX | c.3496C>G (p.Pro1166Ala) c.3079C>G (p.Pro1027Ala) c.3781C>G (p.Pro1261Ala) c.3371C>G c.3357C>G c.3458C>G c.3383C>G c.*3701C>G (n.*3701C>G) c.3394C>G (p.Pro1132Ala) | |
| 19 | g.40394856G= | CA2335960878 | PRX | c.3496C= (p.Pro1166=) c.3079C= (p.Pro1027=) c.3781C= (p.Pro1261=) c.3371C= c.3357C= c.3458C= c.3383C= c.*3701C= (n.*3701C=) c.3394C= (p.Pro1132=) | |
| 19 | g.40394856G>T | CA405893455 | PRX | c.3496C>A (p.Pro1166Thr) c.3079C>A (p.Pro1027Thr) c.3781C>A (p.Pro1261Thr) c.3371C>A c.3357C>A c.3458C>A c.3383C>A c.*3701C>A (n.*3701C>A) c.3394C>A (p.Pro1132Thr) | |
| 19 | g.40394857G>A | CA507678314 | PRX | c.3495C>T (p.Thr1165=) c.3078C>T (p.Thr1026=) c.3780C>T (p.Thr1260=) c.3370C>T c.3356C>T c.3457C>T c.3382C>T c.*3700C>T (n.*3700C>T) c.3393C>T (p.Thr1131=) | |
| 19 | g.40394857G>C | CA507678315 | PRX | c.3495C>G (p.Thr1165=) c.3078C>G (p.Thr1026=) c.3780C>G (p.Thr1260=) c.3370C>G c.3356C>G c.3457C>G c.3382C>G c.*3700C>G (n.*3700C>G) c.3393C>G (p.Thr1131=) | |
| 19 | g.40394857G= | CA2335960879 | PRX | c.3495C= (p.Thr1165=) c.3078C= (p.Thr1026=) c.3780C= (p.Thr1260=) c.3370C= c.3356C= c.3457C= c.3382C= c.*3700C= (n.*3700C=) c.3393C= (p.Thr1131=) | |
| 19 | g.40394857G>T | CA507678316 | PRX | c.3495C>A (p.Thr1165=) c.3078C>A (p.Thr1026=) c.3780C>A (p.Thr1260=) c.3370C>A c.3356C>A c.3457C>A c.3382C>A c.*3700C>A (n.*3700C>A) c.3393C>A (p.Thr1131=) | dbSNP |
| 19 | g.40394858G>A | CA405893457 | PRX | c.3494C>T (p.Thr1165Ile) c.3077C>T (p.Thr1026Ile) c.3779C>T (p.Thr1260Ile) c.3369C>T c.3355C>T c.3456C>T c.3381C>T c.*3699C>T (n.*3699C>T) c.3392C>T (p.Thr1131Ile) | ClinVar dbSNP gnomAD v4 |
| 19 | g.40394858G>C | CA405893459 | PRX | c.3494C>G (p.Thr1165Ser) c.3077C>G (p.Thr1026Ser) c.3779C>G (p.Thr1260Ser) c.3369C>G c.3355C>G c.3456C>G c.3381C>G c.*3699C>G (n.*3699C>G) c.3392C>G (p.Thr1131Ser) | |
| 19 | g.40394858G= | CA2335960880 | PRX | c.3494C= (p.Thr1165=) c.3077C= (p.Thr1026=) c.3779C= (p.Thr1260=) c.3369C= c.3355C= c.3456C= c.3381C= c.*3699C= (n.*3699C=) c.3392C= (p.Thr1131=) | |
| 19 | g.40394858G>T | CA405893461 | PRX | c.3494C>A (p.Thr1165Asn) c.3077C>A (p.Thr1026Asn) c.3779C>A (p.Thr1260Asn) c.3369C>A c.3355C>A c.3456C>A c.3381C>A c.*3699C>A (n.*3699C>A) c.3392C>A (p.Thr1131Asn) | gnomAD v4 |
| 19 | g.40394859T>A | CA405893464 | PRX | c.3493A>T (p.Thr1165Ser) c.3076A>T (p.Thr1026Ser) c.3778A>T (p.Thr1260Ser) c.3368A>T c.3354A>T c.3455A>T c.3380A>T c.*3698A>T (n.*3698A>T) c.3391A>T (p.Thr1131Ser) | |
| 19 | g.40394859T>C | CA405893466 | PRX | c.3493A>G (p.Thr1165Ala) c.3076A>G (p.Thr1026Ala) c.3778A>G (p.Thr1260Ala) c.3368A>G c.3354A>G c.3455A>G c.3380A>G c.*3698A>G (n.*3698A>G) c.3391A>G (p.Thr1131Ala) | gnomAD v4 |
| 19 | g.40394859T>G | CA405893467 | PRX | c.3493A>C (p.Thr1165Pro) c.3076A>C (p.Thr1026Pro) c.3778A>C (p.Thr1260Pro) c.3368A>C c.3354A>C c.3455A>C c.3380A>C c.*3698A>C (n.*3698A>C) c.3391A>C (p.Thr1131Pro) | |
| 19 | g.40394860A= | CA2335960881 | PRX | c.3492T= (p.Gly1164=) c.3075T= (p.Gly1025=) c.3777T= (p.Gly1259=) c.3367T= c.3353T= c.3454T= c.3379T= c.*3697T= (n.*3697T=) c.3390T= (p.Gly1130=) | |
| 19 | g.40394860A>C | CA507678319 | PRX | c.3492T>G (p.Gly1164=) c.3075T>G (p.Gly1025=) c.3777T>G (p.Gly1259=) c.3367T>G c.3353T>G c.3454T>G c.3379T>G c.*3697T>G (n.*3697T>G) c.3390T>G (p.Gly1130=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40394860A>G | CA507678320 | PRX | c.3492T>C (p.Gly1164=) c.3075T>C (p.Gly1025=) c.3777T>C (p.Gly1259=) c.3367T>C c.3353T>C c.3454T>C c.3379T>C c.*3697T>C (n.*3697T>C) c.3390T>C (p.Gly1130=) | gnomAD v4 |
| 19 | g.40394860A>T | CA507678321 | PRX | c.3492T>A (p.Gly1164=) c.3075T>A (p.Gly1025=) c.3777T>A (p.Gly1259=) c.3367T>A c.3353T>A c.3454T>A c.3379T>A c.*3697T>A (n.*3697T>A) c.3390T>A (p.Gly1130=) | |
| 19 | g.40394861C>A | CA405893469 | PRX | c.3491G>T (p.Gly1164Val) c.3074G>T (p.Gly1025Val) c.3776G>T (p.Gly1259Val) c.3366G>T c.3352G>T c.3453G>T c.3378G>T c.*3696G>T (n.*3696G>T) c.3389G>T (p.Gly1130Val) | |
| 19 | g.40394861C= | CA2335960882 | PRX | c.3491G= (p.Gly1164=) c.3074G= (p.Gly1025=) c.3776G= (p.Gly1259=) c.3366G= c.3352G= c.3453G= c.3378G= c.*3696G= (n.*3696G=) c.3389G= (p.Gly1130=) | |
| 19 | g.40394861C>G | CA405893473 | PRX | c.3491G>C (p.Gly1164Ala) c.3074G>C (p.Gly1025Ala) c.3776G>C (p.Gly1259Ala) c.3366G>C c.3352G>C c.3453G>C c.3378G>C c.*3696G>C (n.*3696G>C) c.3389G>C (p.Gly1130Ala) | |
| 19 | g.40394861C>T | CA405893471 | PRX | c.3491G>A (p.Gly1164Asp) c.3074G>A (p.Gly1025Asp) c.3776G>A (p.Gly1259Asp) c.3366G>A c.3352G>A c.3453G>A c.3378G>A c.*3696G>A (n.*3696G>A) c.3389G>A (p.Gly1130Asp) | dbSNP |
| 19 | g.40394862C>A | CA405893475 | PRX | c.3490G>T (p.Gly1164Cys) c.3073G>T (p.Gly1025Cys) c.3775G>T (p.Gly1259Cys) c.3365G>T c.3351G>T c.3452G>T c.3377G>T c.*3695G>T (n.*3695G>T) c.3388G>T (p.Gly1130Cys) | |
| 19 | g.40394862C= | CA2335960883 | PRX | c.3490G= (p.Gly1164=) c.3073G= (p.Gly1025=) c.3775G= (p.Gly1259=) c.3365G= c.3351G= c.3452G= c.3377G= c.*3695G= (n.*3695G=) c.3388G= (p.Gly1130=) | |
| 19 | g.40394862C>G | CA405893479 | PRX | c.3490G>C (p.Gly1164Arg) c.3073G>C (p.Gly1025Arg) c.3775G>C (p.Gly1259Arg) c.3365G>C c.3351G>C c.3452G>C c.3377G>C c.*3695G>C (n.*3695G>C) c.3388G>C (p.Gly1130Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40394862C>T | CA405893477 | PRX | c.3490G>A (p.Gly1164Ser) c.3073G>A (p.Gly1025Ser) c.3775G>A (p.Gly1259Ser) c.3365G>A c.3351G>A c.3452G>A c.3377G>A c.*3695G>A (n.*3695G>A) c.3388G>A (p.Gly1130Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40394863T>A | CA507678324 | PRX | c.3489A>T (p.Ala1163=) c.3072A>T (p.Ala1024=) c.3774A>T (p.Ala1258=) c.3364A>T c.3350A>T c.3451A>T c.3376A>T c.*3694A>T (n.*3694A>T) c.3387A>T (p.Ala1129=) | |
| 19 | g.40394863T>C | CA507678325 | PRX | c.3489A>G (p.Ala1163=) c.3072A>G (p.Ala1024=) c.3774A>G (p.Ala1258=) c.3364A>G c.3350A>G c.3451A>G c.3376A>G c.*3694A>G (n.*3694A>G) c.3387A>G (p.Ala1129=) | |
| 19 | g.40394863T>G | CA507678326 | PRX | c.3489A>C (p.Ala1163=) c.3072A>C (p.Ala1024=) c.3774A>C (p.Ala1258=) c.3364A>C c.3350A>C c.3451A>C c.3376A>C c.*3694A>C (n.*3694A>C) c.3387A>C (p.Ala1129=) | |
| 19 | g.40394864G>A | CA405893481 | PRX | c.3488C>T (p.Ala1163Val) c.3071C>T (p.Ala1024Val) c.3773C>T (p.Ala1258Val) c.3363C>T c.3349C>T c.3450C>T c.3375C>T c.*3693C>T (n.*3693C>T) c.3386C>T (p.Ala1129Val) | |
| 19 | g.40394864G>C | CA405893482 | PRX | c.3488C>G (p.Ala1163Gly) c.3071C>G (p.Ala1024Gly) c.3773C>G (p.Ala1258Gly) c.3363C>G c.3349C>G c.3450C>G c.3375C>G c.*3693C>G (n.*3693C>G) c.3386C>G (p.Ala1129Gly) | |
| 19 | g.40394864G>T | CA405893484 | PRX | c.3488C>A (p.Ala1163Glu) c.3071C>A (p.Ala1024Glu) c.3773C>A (p.Ala1258Glu) c.3363C>A c.3349C>A c.3450C>A c.3375C>A c.*3693C>A (n.*3693C>A) c.3386C>A (p.Ala1129Glu) | gnomAD v4 |
| 19 | g.40394865C>A | CA405893487 | PRX | c.3487G>T (p.Ala1163Ser) c.3070G>T (p.Ala1024Ser) c.3772G>T (p.Ala1258Ser) c.3362G>T c.3348G>T c.3449G>T c.3374G>T c.*3692G>T (n.*3692G>T) c.3385G>T (p.Ala1129Ser) | |
| 19 | g.40394865C>G | CA405893488 | PRX | c.3487G>C (p.Ala1163Pro) c.3070G>C (p.Ala1024Pro) c.3772G>C (p.Ala1258Pro) c.3362G>C c.3348G>C c.3449G>C c.3374G>C c.*3692G>C (n.*3692G>C) c.3385G>C (p.Ala1129Pro) | |
| 19 | g.40394865C>T | CA405893490 | PRX | c.3487G>A (p.Ala1163Thr) c.3070G>A (p.Ala1024Thr) c.3772G>A (p.Ala1258Thr) c.3362G>A c.3348G>A c.3449G>A c.3374G>A c.*3692G>A (n.*3692G>A) c.3385G>A (p.Ala1129Thr) | gnomAD v4 |
| 19 | g.40394866C>A | CA405893493 | PRX | c.3486G>T (p.Glu1162Asp) c.3069G>T (p.Glu1023Asp) c.3771G>T (p.Glu1257Asp) c.3361G>T c.3347G>T c.3448G>T c.3373G>T c.*3691G>T (n.*3691G>T) c.3384G>T (p.Glu1128Asp) | |
| 19 | g.40394866C= | CA2335960884 | PRX | c.3486G= (p.Glu1162=) c.3069G= (p.Glu1023=) c.3771G= (p.Glu1257=) c.3361G= c.3347G= c.3448G= c.3373G= c.*3691G= (n.*3691G=) c.3384G= (p.Glu1128=) | |
| 19 | g.40394866C>G | CA9443847 | PRX | c.3486G>C (p.Glu1162Asp) c.3069G>C (p.Glu1023Asp) c.3771G>C (p.Glu1257Asp) c.3361G>C c.3347G>C c.3448G>C c.3373G>C c.*3691G>C (n.*3691G>C) c.3384G>C (p.Glu1128Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.40394866C>T | CA9443846 | PRX | c.3486G>A (p.Glu1162=) c.3069G>A (p.Glu1023=) c.3771G>A (p.Glu1257=) c.3361G>A c.3347G>A c.3448G>A c.3373G>A c.*3691G>A (n.*3691G>A) c.3384G>A (p.Glu1128=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40394867T>A | CA405893496 | PRX | c.3485A>T (p.Glu1162Val) c.3068A>T (p.Glu1023Val) c.3770A>T (p.Glu1257Val) c.3360A>T c.3346A>T c.3447A>T c.3372A>T c.*3690A>T (n.*3690A>T) c.3383A>T (p.Glu1128Val) | |
| 19 | g.40394867T>C | CA405893498 | PRX | c.3485A>G (p.Glu1162Gly) c.3068A>G (p.Glu1023Gly) c.3770A>G (p.Glu1257Gly) c.3360A>G c.3346A>G c.3447A>G c.3372A>G c.*3690A>G (n.*3690A>G) c.3383A>G (p.Glu1128Gly) | |
| 19 | g.40394867T>G | CA405893500 | PRX | c.3485A>C (p.Glu1162Ala) c.3068A>C (p.Glu1023Ala) c.3770A>C (p.Glu1257Ala) c.3360A>C c.3346A>C c.3447A>C c.3372A>C c.*3690A>C (n.*3690A>C) c.3383A>C (p.Glu1128Ala) | |
| 19 | g.40394868C>A | CA405893505 | PRX | c.3484G>T (p.Glu1162Ter) c.3067G>T (p.Glu1023Ter) c.3769G>T (p.Glu1257Ter) c.3359G>T c.3345G>T c.3446G>T c.3371G>T c.*3689G>T (n.*3689G>T) c.3382G>T (p.Glu1128Ter) | gnomAD v4 |
| 19 | g.40394868C>G | CA405893502 | PRX | c.3484G>C (p.Glu1162Gln) c.3067G>C (p.Glu1023Gln) c.3769G>C (p.Glu1257Gln) c.3359G>C c.3345G>C c.3446G>C c.3371G>C c.*3689G>C (n.*3689G>C) c.3382G>C (p.Glu1128Gln) | |
| 19 | g.40394868C>T | CA405893503 | PRX | c.3484G>A (p.Glu1162Lys) c.3067G>A (p.Glu1023Lys) c.3769G>A (p.Glu1257Lys) c.3359G>A c.3345G>A c.3446G>A c.3371G>A c.*3689G>A (n.*3689G>A) c.3382G>A (p.Glu1128Lys) | COSMIC |
| 19 | g.40394871del | CA2585127052 | PRX | c.3484del (p.Glu1162ArgfsTer29) c.3067del (p.Glu1023ArgfsTer29) c.3769del (p.Glu1257ArgfsTer29) c.3359del c.3345del c.3446del c.3371del c.*3689del (n.*3689del) c.3382del (p.Glu1128ArgfsTer29) | gnomAD v4 |
| 19 | g.40394869C>A | CA507678334 | PRX | c.3483G>T (p.Gly1161=) c.3066G>T (p.Gly1022=) c.3768G>T (p.Gly1256=) c.3358G>T c.3344G>T c.3445G>T c.3370G>T c.*3688G>T (n.*3688G>T) c.3381G>T (p.Gly1127=) | |
| 19 | g.40394869C= | CA2335960885 | PRX | c.3483G= (p.Gly1161=) c.3066G= (p.Gly1022=) c.3768G= (p.Gly1256=) c.3358G= c.3344G= c.3445G= c.3370G= c.*3688G= (n.*3688G=) c.3381G= (p.Gly1127=) | |
| 19 | g.40394869C>G | CA507678332 | PRX | c.3483G>C (p.Gly1161=) c.3066G>C (p.Gly1022=) c.3768G>C (p.Gly1256=) c.3358G>C c.3344G>C c.3445G>C c.3370G>C c.*3688G>C (n.*3688G>C) c.3381G>C (p.Gly1127=) | |
| 19 | g.40394869C>T | CA507678331 | PRX | c.3483G>A (p.Gly1161=) c.3066G>A (p.Gly1022=) c.3768G>A (p.Gly1256=) c.3358G>A c.3344G>A c.3445G>A c.3370G>A c.*3688G>A (n.*3688G>A) c.3381G>A (p.Gly1127=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40394870C>A | CA405893507 | PRX | c.3482G>T (p.Gly1161Val) c.3065G>T (p.Gly1022Val) c.3767G>T (p.Gly1256Val) c.3357G>T c.3343G>T c.3444G>T c.3369G>T c.*3687G>T (n.*3687G>T) c.3380G>T (p.Gly1127Val) | gnomAD v4 |
| 19 | g.40394870C= | CA2335960886 | PRX | c.3482G= (p.Gly1161=) c.3065G= (p.Gly1022=) c.3767G= (p.Gly1256=) c.3357G= c.3343G= c.3444G= c.3369G= c.*3687G= (n.*3687G=) c.3380G= (p.Gly1127=) | |
| 19 | g.40394870C>G | CA405893508 | PRX | c.3482G>C (p.Gly1161Ala) c.3065G>C (p.Gly1022Ala) c.3767G>C (p.Gly1256Ala) c.3357G>C c.3343G>C c.3444G>C c.3369G>C c.*3687G>C (n.*3687G>C) c.3380G>C (p.Gly1127Ala) | |
| 19 | g.40394870C>T | CA9443848 | PRX | c.3482G>A (p.Gly1161Glu) c.3065G>A (p.Gly1022Glu) c.3767G>A (p.Gly1256Glu) c.3357G>A c.3343G>A c.3444G>A c.3369G>A c.*3687G>A (n.*3687G>A) c.3380G>A (p.Gly1127Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.40394871C>A | CA405893512 | PRX | c.3481G>T (p.Gly1161Trp) c.3064G>T (p.Gly1022Trp) c.3766G>T (p.Gly1256Trp) c.3356G>T c.3342G>T c.3443G>T c.3368G>T c.*3686G>T (n.*3686G>T) c.3379G>T (p.Gly1127Trp) | |
| 19 | g.40394871C= | CA2335960887 | PRX | c.3481G= (p.Gly1161=) c.3064G= (p.Gly1022=) c.3766G= (p.Gly1256=) c.3356G= c.3342G= c.3443G= c.3368G= c.*3686G= (n.*3686G=) c.3379G= (p.Gly1127=) | |
| 19 | g.40394871C>G | CA405893513 | PRX | c.3481G>C (p.Gly1161Arg) c.3064G>C (p.Gly1022Arg) c.3766G>C (p.Gly1256Arg) c.3356G>C c.3342G>C c.3443G>C c.3368G>C c.*3686G>C (n.*3686G>C) c.3379G>C (p.Gly1127Arg) | |
| 19 | g.40394871C>T | CA9443849 | PRX | c.3481G>A (p.Gly1161Arg) c.3064G>A (p.Gly1022Arg) c.3766G>A (p.Gly1256Arg) c.3356G>A c.3342G>A c.3443G>A c.3368G>A c.*3686G>A (n.*3686G>A) c.3379G>A (p.Gly1127Arg) | dbSNP ExAC |
| 19 | g.40394872A>C | CA405893517 | PRX | c.3480T>G (p.Phe1160Leu) c.3063T>G (p.Phe1021Leu) c.3765T>G (p.Phe1255Leu) c.3355T>G c.3341T>G c.3442T>G c.3367T>G c.*3685T>G (n.*3685T>G) c.3378T>G (p.Phe1126Leu) | |
| 19 | g.40394872A>G | CA507678337 | PRX | c.3480T>C (p.Phe1160=) c.3063T>C (p.Phe1021=) c.3765T>C (p.Phe1255=) c.3355T>C c.3341T>C c.3442T>C c.3367T>C c.*3685T>C (n.*3685T>C) c.3378T>C (p.Phe1126=) | |
| 19 | g.40394872A>T | CA405893518 | PRX | c.3480T>A (p.Phe1160Leu) c.3063T>A (p.Phe1021Leu) c.3765T>A (p.Phe1255Leu) c.3355T>A c.3341T>A c.3442T>A c.3367T>A c.*3685T>A (n.*3685T>A) c.3378T>A (p.Phe1126Leu) | |
| 19 | g.40394873A>C | CA405893521 | PRX | c.3479T>G (p.Phe1160Cys) c.3062T>G (p.Phe1021Cys) c.3764T>G (p.Phe1255Cys) c.3354T>G c.3340T>G c.3441T>G c.3366T>G c.*3684T>G (n.*3684T>G) c.3377T>G (p.Phe1126Cys) | |
| 19 | g.40394873A>G | CA405893523 | PRX | c.3479T>C (p.Phe1160Ser) c.3062T>C (p.Phe1021Ser) c.3764T>C (p.Phe1255Ser) c.3354T>C c.3340T>C c.3441T>C c.3366T>C c.*3684T>C (n.*3684T>C) c.3377T>C (p.Phe1126Ser) | |
| 19 | g.40394873A>T | CA405893524 | PRX | c.3479T>A (p.Phe1160Tyr) c.3062T>A (p.Phe1021Tyr) c.3764T>A (p.Phe1255Tyr) c.3354T>A c.3340T>A c.3441T>A c.3366T>A c.*3684T>A (n.*3684T>A) c.3377T>A (p.Phe1126Tyr) | |
| 19 | g.40394874A>C | CA405893530 | PRX | c.3478T>G (p.Phe1160Val) c.3061T>G (p.Phe1021Val) c.3763T>G (p.Phe1255Val) c.3353T>G c.3339T>G c.3440T>G c.3365T>G c.*3683T>G (n.*3683T>G) c.3376T>G (p.Phe1126Val) | |
| 19 | g.40394874A>G | CA405893528 | PRX | c.3478T>C (p.Phe1160Leu) c.3061T>C (p.Phe1021Leu) c.3763T>C (p.Phe1255Leu) c.3353T>C c.3339T>C c.3440T>C c.3365T>C c.*3683T>C (n.*3683T>C) c.3376T>C (p.Phe1126Leu) | |
| 19 | g.40394874A>T | CA405893527 | PRX | c.3478T>A (p.Phe1160Ile) c.3061T>A (p.Phe1021Ile) c.3763T>A (p.Phe1255Ile) c.3353T>A c.3339T>A c.3440T>A c.3365T>A c.*3683T>A (n.*3683T>A) c.3376T>A (p.Phe1126Ile) | |
| 19 | g.40394875G>A | CA507678341 | PRX | c.3477C>T (p.Gly1159=) c.3060C>T (p.Gly1020=) c.3762C>T (p.Gly1254=) c.3352C>T c.3338C>T c.3439C>T c.3364C>T c.*3682C>T (n.*3682C>T) c.3375C>T (p.Gly1125=) | |
| 19 | g.40394875G>C | CA507678342 | PRX | c.3477C>G (p.Gly1159=) c.3060C>G (p.Gly1020=) c.3762C>G (p.Gly1254=) c.3352C>G c.3338C>G c.3439C>G c.3364C>G c.*3682C>G (n.*3682C>G) c.3375C>G (p.Gly1125=) | |
| 19 | g.40394875G>T | CA507678343 | PRX | c.3477C>A (p.Gly1159=) c.3060C>A (p.Gly1020=) c.3762C>A (p.Gly1254=) c.3352C>A c.3338C>A c.3439C>A c.3364C>A c.*3682C>A (n.*3682C>A) c.3375C>A (p.Gly1125=) | gnomAD v4 |
| 19 | g.40394876C>A | CA405893536 | PRX | c.3476G>T (p.Gly1159Val) c.3059G>T (p.Gly1020Val) c.3761G>T (p.Gly1254Val) c.3351G>T c.3337G>T c.3438G>T c.3363G>T c.*3681G>T (n.*3681G>T) c.3374G>T (p.Gly1125Val) | gnomAD v4 |
| 19 | g.40394876C>G | CA405893533 | PRX | c.3476G>C (p.Gly1159Ala) c.3059G>C (p.Gly1020Ala) c.3761G>C (p.Gly1254Ala) c.3351G>C c.3337G>C c.3438G>C c.3363G>C c.*3681G>C (n.*3681G>C) c.3374G>C (p.Gly1125Ala) | |
| 19 | g.40394876C>T | CA405893534 | PRX | c.3476G>A (p.Gly1159Asp) c.3059G>A (p.Gly1020Asp) c.3761G>A (p.Gly1254Asp) c.3351G>A c.3337G>A c.3438G>A c.3363G>A c.*3681G>A (n.*3681G>A) c.3374G>A (p.Gly1125Asp) | gnomAD v4 |
| 19 | g.40394877C>A | CA405893539 | PRX | c.3475G>T (p.Gly1159Cys) c.3058G>T (p.Gly1020Cys) c.3760G>T (p.Gly1254Cys) c.3350G>T c.3336G>T c.3437G>T c.3362G>T c.*3680G>T (n.*3680G>T) c.3373G>T (p.Gly1125Cys) | gnomAD v4 |
| 19 | g.40394877C= | CA2335960888 | PRX | c.3475G= (p.Gly1159=) c.3058G= (p.Gly1020=) c.3760G= (p.Gly1254=) c.3350G= c.3336G= c.3437G= c.3362G= c.*3680G= (n.*3680G=) c.3373G= (p.Gly1125=) | |
| 19 | g.40394877C>G | CA405893540 | PRX | c.3475G>C (p.Gly1159Arg) c.3058G>C (p.Gly1020Arg) c.3760G>C (p.Gly1254Arg) c.3350G>C c.3336G>C c.3437G>C c.3362G>C c.*3680G>C (n.*3680G>C) c.3373G>C (p.Gly1125Arg) | ClinVar gnomAD v4 |
| 19 | g.40394877C>T | CA9443850 | PRX | c.3475G>A (p.Gly1159Ser) c.3058G>A (p.Gly1020Ser) c.3760G>A (p.Gly1254Ser) c.3350G>A c.3336G>A c.3437G>A c.3362G>A c.*3680G>A (n.*3680G>A) c.3373G>A (p.Gly1125Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40394878G>A | CA9443851 | PRX | c.3474C>T (p.Thr1158=) c.3057C>T (p.Thr1019=) c.3759C>T (p.Thr1253=) c.3349C>T c.3335C>T c.3436C>T c.3361C>T c.*3679C>T (n.*3679C>T) c.3372C>T (p.Thr1124=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40394878G>C | CA507678348 | PRX | c.3474C>G (p.Thr1158=) c.3057C>G (p.Thr1019=) c.3759C>G (p.Thr1253=) c.3349C>G c.3335C>G c.3436C>G c.3361C>G c.*3679C>G (n.*3679C>G) c.3372C>G (p.Thr1124=) | gnomAD v4 |
| 19 | g.40394878G= | CA2335960889 | PRX | c.3474C= (p.Thr1158=) c.3057C= (p.Thr1019=) c.3759C= (p.Thr1253=) c.3349C= c.3335C= c.3436C= c.3361C= c.*3679C= (n.*3679C=) c.3372C= (p.Thr1124=) | |
| 19 | g.40394878G>T | CA507678349 | PRX | c.3474C>A (p.Thr1158=) c.3057C>A (p.Thr1019=) c.3759C>A (p.Thr1253=) c.3349C>A c.3335C>A c.3436C>A c.3361C>A c.*3679C>A (n.*3679C>A) c.3372C>A (p.Thr1124=) | gnomAD v4 |
| 19 | g.40394879G>A | CA405893544 | PRX | c.3473C>T (p.Thr1158Ile) c.3056C>T (p.Thr1019Ile) c.3758C>T (p.Thr1253Ile) c.3348C>T c.3334C>T c.3435C>T c.3360C>T c.*3678C>T (n.*3678C>T) c.3371C>T (p.Thr1124Ile) | |
| 19 | g.40394879G>C | CA405893546 | PRX | c.3473C>G (p.Thr1158Ser) c.3056C>G (p.Thr1019Ser) c.3758C>G (p.Thr1253Ser) c.3348C>G c.3334C>G c.3435C>G c.3360C>G c.*3678C>G (n.*3678C>G) c.3371C>G (p.Thr1124Ser) | |
| 19 | g.40394879G>T | CA405893548 | PRX | c.3473C>A (p.Thr1158Asn) c.3056C>A (p.Thr1019Asn) c.3758C>A (p.Thr1253Asn) c.3348C>A c.3334C>A c.3435C>A c.3360C>A c.*3678C>A (n.*3678C>A) c.3371C>A (p.Thr1124Asn) | gnomAD v4 |
| 19 | g.40394880T>A | CA405893550 | PRX | c.3472A>T (p.Thr1158Ser) c.3055A>T (p.Thr1019Ser) c.3757A>T (p.Thr1253Ser) c.3347A>T c.3333A>T c.3434A>T c.3359A>T c.*3677A>T (n.*3677A>T) c.3370A>T (p.Thr1124Ser) | |
| 19 | g.40394880T>C | CA405893552 | PRX | c.3472A>G (p.Thr1158Ala) c.3055A>G (p.Thr1019Ala) c.3757A>G (p.Thr1253Ala) c.3347A>G c.3333A>G c.3434A>G c.3359A>G c.*3677A>G (n.*3677A>G) c.3370A>G (p.Thr1124Ala) | |
| 19 | g.40394880T>G | CA405893554 | PRX | c.3472A>C (p.Thr1158Pro) c.3055A>C (p.Thr1019Pro) c.3757A>C (p.Thr1253Pro) c.3347A>C c.3333A>C c.3434A>C c.3359A>C c.*3677A>C (n.*3677A>C) c.3370A>C (p.Thr1124Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40394880T= | CA2335960890 | PRX | c.3472A= (p.Thr1158=) c.3055A= (p.Thr1019=) c.3757A= (p.Thr1253=) c.3347A= c.3333A= c.3434A= c.3359A= c.*3677A= (n.*3677A=) c.3370A= (p.Thr1124=) | |
| 19 | g.40394881C>A | CA507678353 | PRX | c.3471G>T (p.Leu1157=) c.3054G>T (p.Leu1018=) c.3756G>T (p.Leu1252=) c.3346G>T c.3332G>T c.3433G>T c.3358G>T c.*3676G>T (n.*3676G>T) c.3369G>T (p.Leu1123=) | |
| 19 | g.40394881C= | CA2335960891 | PRX | c.3471G= (p.Leu1157=) c.3054G= (p.Leu1018=) c.3756G= (p.Leu1252=) c.3346G= c.3332G= c.3433G= c.3358G= c.*3676G= (n.*3676G=) c.3369G= (p.Leu1123=) | |
| 19 | g.40394881C>G | CA507678354 | PRX | c.3471G>C (p.Leu1157=) c.3054G>C (p.Leu1018=) c.3756G>C (p.Leu1252=) c.3346G>C c.3332G>C c.3433G>C c.3358G>C c.*3676G>C (n.*3676G>C) c.3369G>C (p.Leu1123=) | |
| 19 | g.40394881C>T | CA507678355 | PRX | c.3471G>A (p.Leu1157=) c.3054G>A (p.Leu1018=) c.3756G>A (p.Leu1252=) c.3346G>A c.3332G>A c.3433G>A c.3358G>A c.*3676G>A (n.*3676G>A) c.3369G>A (p.Leu1123=) | dbSNP gnomAD v4 |
| 19 | g.40394882A= | CA2335960892 | PRX | c.3470T= (p.Leu1157=) c.3053T= (p.Leu1018=) c.3755T= (p.Leu1252=) c.3345T= c.3331T= c.3432T= c.3357T= c.*3675T= (n.*3675T=) c.3368T= (p.Leu1123=) | |
| 19 | g.40394882A>C | CA405893559 | PRX | c.3470T>G (p.Leu1157Arg) c.3053T>G (p.Leu1018Arg) c.3755T>G (p.Leu1252Arg) c.3345T>G c.3331T>G c.3432T>G c.3357T>G c.*3675T>G (n.*3675T>G) c.3368T>G (p.Leu1123Arg) | |
| 19 | g.40394882A>G | CA9443852 | PRX | c.3470T>C (p.Leu1157Pro) c.3053T>C (p.Leu1018Pro) c.3755T>C (p.Leu1252Pro) c.3345T>C c.3331T>C c.3432T>C c.3357T>C c.*3675T>C (n.*3675T>C) c.3368T>C (p.Leu1123Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.40394882A>T | CA405893555 | PRX | c.3470T>A (p.Leu1157Gln) c.3053T>A (p.Leu1018Gln) c.3755T>A (p.Leu1252Gln) c.3345T>A c.3331T>A c.3432T>A c.3357T>A c.*3675T>A (n.*3675T>A) c.3368T>A (p.Leu1123Gln) | |
| 19 | g.40394883G>A | CA507678359 | PRX | c.3469C>T (p.Leu1157=) c.3052C>T (p.Leu1018=) c.3754C>T (p.Leu1252=) c.3344C>T c.3330C>T c.3431C>T c.3356C>T c.*3674C>T (n.*3674C>T) c.3367C>T (p.Leu1123=) | gnomAD v4 |
| 19 | g.40394883G>C | CA405893560 | PRX | c.3469C>G (p.Leu1157Val) c.3052C>G (p.Leu1018Val) c.3754C>G (p.Leu1252Val) c.3344C>G c.3330C>G c.3431C>G c.3356C>G c.*3674C>G (n.*3674C>G) c.3367C>G (p.Leu1123Val) | dbSNP gnomAD v2 |
| 19 | g.40394883G= | CA2335960893 | PRX | c.3469C= (p.Leu1157=) c.3052C= (p.Leu1018=) c.3754C= (p.Leu1252=) c.3344C= c.3330C= c.3431C= c.3356C= c.*3674C= (n.*3674C=) c.3367C= (p.Leu1123=) | |
| 19 | g.40394883G>T | CA405893562 | PRX | c.3469C>A (p.Leu1157Met) c.3052C>A (p.Leu1018Met) c.3754C>A (p.Leu1252Met) c.3344C>A c.3330C>A c.3431C>A c.3356C>A c.*3674C>A (n.*3674C>A) c.3367C>A (p.Leu1123Met) | gnomAD v4 |
| 19 | g.40394884C>A | CA405893564 | PRX | c.3468G>T (p.Glu1156Asp) c.3051G>T (p.Glu1017Asp) c.3753G>T (p.Glu1251Asp) c.3343G>T c.3329G>T c.3430G>T c.3355G>T c.*3673G>T (n.*3673G>T) c.3366G>T (p.Glu1122Asp) | |
| 19 | g.40394884C>G | CA405893566 | PRX | c.3468G>C (p.Glu1156Asp) c.3051G>C (p.Glu1017Asp) c.3753G>C (p.Glu1251Asp) c.3343G>C c.3329G>C c.3430G>C c.3355G>C c.*3673G>C (n.*3673G>C) c.3366G>C (p.Glu1122Asp) | gnomAD v4 |
| 19 | g.40394884C>T | CA507678360 | PRX | c.3468G>A (p.Glu1156=) c.3051G>A (p.Glu1017=) c.3753G>A (p.Glu1251=) c.3343G>A c.3329G>A c.3430G>A c.3355G>A c.*3673G>A (n.*3673G>A) c.3366G>A (p.Glu1122=) | |
| 19 | g.40394885T>A | CA405893568 | PRX | c.3467A>T (p.Glu1156Val) c.3050A>T (p.Glu1017Val) c.3752A>T (p.Glu1251Val) c.3342A>T c.3328A>T c.3429A>T c.3354A>T c.*3672A>T (n.*3672A>T) c.3365A>T (p.Glu1122Val) | |
| 19 | g.40394885T>C | CA405893570 | PRX | c.3467A>G (p.Glu1156Gly) c.3050A>G (p.Glu1017Gly) c.3752A>G (p.Glu1251Gly) c.3342A>G c.3328A>G c.3429A>G c.3354A>G c.*3672A>G (n.*3672A>G) c.3365A>G (p.Glu1122Gly) | |
| 19 | g.40394885T>G | CA405893572 | PRX | c.3467A>C (p.Glu1156Ala) c.3050A>C (p.Glu1017Ala) c.3752A>C (p.Glu1251Ala) c.3342A>C c.3328A>C c.3429A>C c.3354A>C c.*3672A>C (n.*3672A>C) c.3365A>C (p.Glu1122Ala) | |
| 19 | g.40394886C>A | CA405893574 | PRX | c.3466G>T (p.Glu1156Ter) c.3049G>T (p.Glu1017Ter) c.3751G>T (p.Glu1251Ter) c.3341G>T c.3327G>T c.3428G>T c.3353G>T c.*3671G>T (n.*3671G>T) c.3364G>T (p.Glu1122Ter) | |
| 19 | g.40394886C>G | CA405893576 | PRX | c.3466G>C (p.Glu1156Gln) c.3049G>C (p.Glu1017Gln) c.3751G>C (p.Glu1251Gln) c.3341G>C c.3327G>C c.3428G>C c.3353G>C c.*3671G>C (n.*3671G>C) c.3364G>C (p.Glu1122Gln) | |
| 19 | g.40394886C>T | CA405893577 | PRX | c.3466G>A (p.Glu1156Lys) c.3049G>A (p.Glu1017Lys) c.3751G>A (p.Glu1251Lys) c.3341G>A c.3327G>A c.3428G>A c.3353G>A c.*3671G>A (n.*3671G>A) c.3364G>A (p.Glu1122Lys) | gnomAD v4 |
| 19 | g.40394887C>A | CA507678362 | PRX | c.3465G>T (p.Val1155=) c.3048G>T (p.Val1016=) c.3750G>T (p.Val1250=) c.3340G>T c.3326G>T c.3427G>T c.3352G>T c.*3670G>T (n.*3670G>T) c.3363G>T (p.Val1121=) | gnomAD v4 |
| 19 | g.40394887C>G | CA507678363 | PRX | c.3465G>C (p.Val1155=) c.3048G>C (p.Val1016=) c.3750G>C (p.Val1250=) c.3340G>C c.3326G>C c.3427G>C c.3352G>C c.*3670G>C (n.*3670G>C) c.3363G>C (p.Val1121=) | COSMIC |
| 19 | g.40394887C>T | CA507678364 | PRX | c.3465G>A (p.Val1155=) c.3048G>A (p.Val1016=) c.3750G>A (p.Val1250=) c.3340G>A c.3326G>A c.3427G>A c.3352G>A c.*3670G>A (n.*3670G>A) c.3363G>A (p.Val1121=) | gnomAD v4 |
| 19 | g.40394888A>C | CA405893578 | PRX | c.3464T>G (p.Val1155Gly) c.3047T>G (p.Val1016Gly) c.3749T>G (p.Val1250Gly) c.3339T>G c.3325T>G c.3426T>G c.3351T>G c.*3669T>G (n.*3669T>G) c.3362T>G (p.Val1121Gly) | |
| 19 | g.40394888A>G | CA405893580 | PRX | c.3464T>C (p.Val1155Ala) c.3047T>C (p.Val1016Ala) c.3749T>C (p.Val1250Ala) c.3339T>C c.3325T>C c.3426T>C c.3351T>C c.*3669T>C (n.*3669T>C) c.3362T>C (p.Val1121Ala) | |
| 19 | g.40394888A>T | CA405893582 | PRX | c.3464T>A (p.Val1155Glu) c.3047T>A (p.Val1016Glu) c.3749T>A (p.Val1250Glu) c.3339T>A c.3325T>A c.3426T>A c.3351T>A c.*3669T>A (n.*3669T>A) c.3362T>A (p.Val1121Glu) | |
| 19 | g.40394889C>A | CA308416918 | PRX | c.3463G>T (p.Val1155Leu) c.3046G>T (p.Val1016Leu) c.3748G>T (p.Val1250Leu) c.3338G>T c.3324G>T c.3425G>T c.3350G>T c.*3668G>T (n.*3668G>T) c.3361G>T (p.Val1121Leu) | ClinVar dbSNP |
| 19 | g.40394889C= | CA2335960894 | PRX | c.3463G= (p.Val1155=) c.3046G= (p.Val1016=) c.3748G= (p.Val1250=) c.3338G= c.3324G= c.3425G= c.3350G= c.*3668G= (n.*3668G=) c.3361G= (p.Val1121=) | |
| 19 | g.40394889C>G | CA405893587 | PRX | c.3463G>C (p.Val1155Leu) c.3046G>C (p.Val1016Leu) c.3748G>C (p.Val1250Leu) c.3338G>C c.3324G>C c.3425G>C c.3350G>C c.*3668G>C (n.*3668G>C) c.3361G>C (p.Val1121Leu) | gnomAD v4 |
| 19 | g.40394889C>T | CA405893584 | PRX | c.3463G>A (p.Val1155Met) c.3046G>A (p.Val1016Met) c.3748G>A (p.Val1250Met) c.3338G>A c.3324G>A c.3425G>A c.3350G>A c.*3668G>A (n.*3668G>A) c.3361G>A (p.Val1121Met) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40394890C>A | CA405893589 | PRX | c.3462G>T (p.Gln1154His) c.3045G>T (p.Gln1015His) c.3747G>T (p.Gln1249His) c.3337G>T c.3323G>T c.3424G>T c.3349G>T c.*3667G>T (n.*3667G>T) c.3360G>T (p.Gln1120His) | gnomAD v4 |
| 19 | g.40394890C= | CA2335960895 | PRX | c.3462G= (p.Gln1154=) c.3045G= (p.Gln1015=) c.3747G= (p.Gln1249=) c.3337G= c.3323G= c.3424G= c.3349G= c.*3667G= (n.*3667G=) c.3360G= (p.Gln1120=) | |
| 19 | g.40394890C>G | CA308416925 | PRX | c.3462G>C (p.Gln1154His) c.3045G>C (p.Gln1015His) c.3747G>C (p.Gln1249His) c.3337G>C c.3323G>C c.3424G>C c.3349G>C c.*3667G>C (n.*3667G>C) c.3360G>C (p.Gln1120His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40394890C>T | CA308416933 | PRX | c.3462G>A (p.Gln1154=) c.3045G>A (p.Gln1015=) c.3747G>A (p.Gln1249=) c.3337G>A c.3323G>A c.3424G>A c.3349G>A c.*3667G>A (n.*3667G>A) c.3360G>A (p.Gln1120=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40394891T>A | CA405893593 | PRX | c.3461A>T (p.Gln1154Leu) c.3044A>T (p.Gln1015Leu) c.3746A>T (p.Gln1249Leu) c.3336A>T c.3322A>T c.3423A>T c.3348A>T c.*3666A>T (n.*3666A>T) c.3359A>T (p.Gln1120Leu) | |
| 19 | g.40394891T>C | CA405893595 | PRX | c.3461A>G (p.Gln1154Arg) c.3044A>G (p.Gln1015Arg) c.3746A>G (p.Gln1249Arg) c.3336A>G c.3322A>G c.3423A>G c.3348A>G c.*3666A>G (n.*3666A>G) c.3359A>G (p.Gln1120Arg) | |
| 19 | g.40394891T>G | CA405893597 | PRX | c.3461A>C (p.Gln1154Pro) c.3044A>C (p.Gln1015Pro) c.3746A>C (p.Gln1249Pro) c.3336A>C c.3322A>C c.3423A>C c.3348A>C c.*3666A>C (n.*3666A>C) c.3359A>C (p.Gln1120Pro) | |
| 19 | g.40394892G>A | CA405893599 | PRX | c.3460C>T (p.Gln1154Ter) c.3043C>T (p.Gln1015Ter) c.3745C>T (p.Gln1249Ter) c.3335C>T c.3321C>T c.3422C>T c.3347C>T c.*3665C>T (n.*3665C>T) c.3358C>T (p.Gln1120Ter) | gnomAD v4 COSMIC |
| 19 | g.40394892G>C | CA405893601 | PRX | c.3460C>G (p.Gln1154Glu) c.3043C>G (p.Gln1015Glu) c.3745C>G (p.Gln1249Glu) c.3335C>G c.3321C>G c.3422C>G c.3347C>G c.*3665C>G (n.*3665C>G) c.3358C>G (p.Gln1120Glu) | |
| 19 | g.40394892G>T | CA405893603 | PRX | c.3460C>A (p.Gln1154Lys) c.3043C>A (p.Gln1015Lys) c.3745C>A (p.Gln1249Lys) c.3335C>A c.3321C>A c.3422C>A c.3347C>A c.*3665C>A (n.*3665C>A) c.3358C>A (p.Gln1120Lys) | |
| 19 | g.40394893T>A | CA507678369 | PRX | c.3459A>T (p.Pro1153=) c.3042A>T (p.Pro1014=) c.3744A>T (p.Pro1248=) c.3334A>T c.3320A>T c.3421A>T c.3346A>T c.*3664A>T (n.*3664A>T) c.3357A>T (p.Pro1119=) | |
| 19 | g.40394893T>C | CA507678370 | PRX | c.3459A>G (p.Pro1153=) c.3042A>G (p.Pro1014=) c.3744A>G (p.Pro1248=) c.3334A>G c.3320A>G c.3421A>G c.3346A>G c.*3664A>G (n.*3664A>G) c.3357A>G (p.Pro1119=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.40394893T>G | CA507678372 | PRX | c.3459A>C (p.Pro1153=) c.3042A>C (p.Pro1014=) c.3744A>C (p.Pro1248=) c.3334A>C c.3320A>C c.3421A>C c.3346A>C c.*3664A>C (n.*3664A>C) c.3357A>C (p.Pro1119=) | |
| 19 | g.40394893T= | CA2335960896 | PRX | c.3459A= (p.Pro1153=) c.3042A= (p.Pro1014=) c.3744A= (p.Pro1248=) c.3334A= c.3320A= c.3421A= c.3346A= c.*3664A= (n.*3664A=) c.3357A= (p.Pro1119=) | |
| 19 | g.40394894G>A | CA405893605 | PRX | c.3458C>T (p.Pro1153Leu) c.3041C>T (p.Pro1014Leu) c.3743C>T (p.Pro1248Leu) c.3333C>T c.3319C>T c.3420C>T c.3345C>T c.*3663C>T (n.*3663C>T) c.3356C>T (p.Pro1119Leu) | |
| 19 | g.40394894G>C | CA405893607 | PRX | c.3458C>G (p.Pro1153Arg) c.3041C>G (p.Pro1014Arg) c.3743C>G (p.Pro1248Arg) c.3333C>G c.3319C>G c.3420C>G c.3345C>G c.*3663C>G (n.*3663C>G) c.3356C>G (p.Pro1119Arg) | |
| 19 | g.40394894G>T | CA405893608 | PRX | c.3458C>A (p.Pro1153Gln) c.3041C>A (p.Pro1014Gln) c.3743C>A (p.Pro1248Gln) c.3333C>A c.3319C>A c.3420C>A c.3345C>A c.*3663C>A (n.*3663C>A) c.3356C>A (p.Pro1119Gln) | gnomAD v4 |
| 19 | g.40394895G>A | CA405893610 | PRX | c.3457C>T (p.Pro1153Ser) c.3040C>T (p.Pro1014Ser) c.3742C>T (p.Pro1248Ser) c.3332C>T c.3318C>T c.3419C>T c.3344C>T c.*3662C>T (n.*3662C>T) c.3355C>T (p.Pro1119Ser) | dbSNP |
| 19 | g.40394895G>C | CA405893612 | PRX | c.3457C>G (p.Pro1153Ala) c.3040C>G (p.Pro1014Ala) c.3742C>G (p.Pro1248Ala) c.3332C>G c.3318C>G c.3419C>G c.3344C>G c.*3662C>G (n.*3662C>G) c.3355C>G (p.Pro1119Ala) | |
| 19 | g.40394895G= | CA2335960897 | PRX | c.3457C= (p.Pro1153=) c.3040C= (p.Pro1014=) c.3742C= (p.Pro1248=) c.3332C= c.3318C= c.3419C= c.3344C= c.*3662C= (n.*3662C=) c.3355C= (p.Pro1119=) | |
| 19 | g.40394895G>T | CA405893614 | PRX | c.3457C>A (p.Pro1153Thr) c.3040C>A (p.Pro1014Thr) c.3742C>A (p.Pro1248Thr) c.3332C>A c.3318C>A c.3419C>A c.3344C>A c.*3662C>A (n.*3662C>A) c.3355C>A (p.Pro1119Thr) | |
| 19 | g.40394896C>A | CA507678374 | PRX | c.3456G>T (p.Leu1152=) c.3039G>T (p.Leu1013=) c.3741G>T (p.Leu1247=) c.3331G>T c.3317G>T c.3418G>T c.3343G>T c.*3661G>T (n.*3661G>T) c.3354G>T (p.Leu1118=) | |
| 19 | g.40394896C>G | CA507678377 | PRX | c.3456G>C (p.Leu1152=) c.3039G>C (p.Leu1013=) c.3741G>C (p.Leu1247=) c.3331G>C c.3317G>C c.3418G>C c.3343G>C c.*3661G>C (n.*3661G>C) c.3354G>C (p.Leu1118=) | |
| 19 | g.40394896C>T | CA507678376 | PRX | c.3456G>A (p.Leu1152=) c.3039G>A (p.Leu1013=) c.3741G>A (p.Leu1247=) c.3331G>A c.3317G>A c.3418G>A c.3343G>A c.*3661G>A (n.*3661G>A) c.3354G>A (p.Leu1118=) | |
| 19 | g.40394897A>C | CA405893620 | PRX | c.3455T>G (p.Leu1152Arg) c.3038T>G (p.Leu1013Arg) c.3740T>G (p.Leu1247Arg) c.3330T>G c.3316T>G c.3417T>G c.3342T>G c.*3660T>G (n.*3660T>G) c.3353T>G (p.Leu1118Arg) | |
| 19 | g.40394897A>G | CA405893616 | PRX | c.3455T>C (p.Leu1152Pro) c.3038T>C (p.Leu1013Pro) c.3740T>C (p.Leu1247Pro) c.3330T>C c.3316T>C c.3417T>C c.3342T>C c.*3660T>C (n.*3660T>C) c.3353T>C (p.Leu1118Pro) | |
| 19 | g.40394897A>T | CA405893618 | PRX | c.3455T>A (p.Leu1152Gln) c.3038T>A (p.Leu1013Gln) c.3740T>A (p.Leu1247Gln) c.3330T>A c.3316T>A c.3417T>A c.3342T>A c.*3660T>A (n.*3660T>A) c.3353T>A (p.Leu1118Gln) | |
| 19 | g.40394898G>A | CA507678381 | PRX | c.3454C>T (p.Leu1152=) c.3037C>T (p.Leu1013=) c.3739C>T (p.Leu1247=) c.3329C>T c.3315C>T c.3416C>T c.3341C>T c.*3659C>T (n.*3659C>T) c.3352C>T (p.Leu1118=) | |
| 19 | g.40394898G>C | CA405893622 | PRX | c.3454C>G (p.Leu1152Val) c.3037C>G (p.Leu1013Val) c.3739C>G (p.Leu1247Val) c.3329C>G c.3315C>G c.3416C>G c.3341C>G c.*3659C>G (n.*3659C>G) c.3352C>G (p.Leu1118Val) | |
| 19 | g.40394898G>T | CA405893624 | PRX | c.3454C>A (p.Leu1152Met) c.3037C>A (p.Leu1013Met) c.3739C>A (p.Leu1247Met) c.3329C>A c.3315C>A c.3416C>A c.3341C>A c.*3659C>A (n.*3659C>A) c.3352C>A (p.Leu1118Met) | |
| 19 | g.40394899G>A | CA9443853 | PRX | c.3453C>T (p.Ser1151=) c.3036C>T (p.Ser1012=) c.3738C>T (p.Ser1246=) c.3328C>T c.3314C>T c.3415C>T c.3340C>T c.*3658C>T (n.*3658C>T) c.3351C>T (p.Ser1117=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40394899G>C | CA507678382 | PRX | c.3453C>G (p.Ser1151=) c.3036C>G (p.Ser1012=) c.3738C>G (p.Ser1246=) c.3328C>G c.3314C>G c.3415C>G c.3340C>G c.*3658C>G (n.*3658C>G) c.3351C>G (p.Ser1117=) | |
| 19 | g.40394899G= | CA2335960898 | PRX | c.3453C= (p.Ser1151=) c.3036C= (p.Ser1012=) c.3738C= (p.Ser1246=) c.3328C= c.3314C= c.3415C= c.3340C= c.*3658C= (n.*3658C=) c.3351C= (p.Ser1117=) | |
| 19 | g.40394899G>T | CA507678384 | PRX | c.3453C>A (p.Ser1151=) c.3036C>A (p.Ser1012=) c.3738C>A (p.Ser1246=) c.3328C>A c.3314C>A c.3415C>A c.3340C>A c.*3658C>A (n.*3658C>A) c.3351C>A (p.Ser1117=) | gnomAD v4 |
| 19 | g.40394900G>A | CA405893628 | PRX | c.3452C>T (p.Ser1151Phe) c.3035C>T (p.Ser1012Phe) c.3737C>T (p.Ser1246Phe) c.3327C>T c.3313C>T c.3414C>T c.3339C>T c.*3657C>T (n.*3657C>T) c.3350C>T (p.Ser1117Phe) | |
| 19 | g.40394900G>C | CA405893630 | PRX | c.3452C>G (p.Ser1151Cys) c.3035C>G (p.Ser1012Cys) c.3737C>G (p.Ser1246Cys) c.3327C>G c.3313C>G c.3414C>G c.3339C>G c.*3657C>G (n.*3657C>G) c.3350C>G (p.Ser1117Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40394900G= | CA2335960899 | PRX | c.3452C= (p.Ser1151=) c.3035C= (p.Ser1012=) c.3737C= (p.Ser1246=) c.3327C= c.3313C= c.3414C= c.3339C= c.*3657C= (n.*3657C=) c.3350C= (p.Ser1117=) | |
| 19 | g.40394900G>T | CA405893631 | PRX | c.3452C>A (p.Ser1151Tyr) c.3035C>A (p.Ser1012Tyr) c.3737C>A (p.Ser1246Tyr) c.3327C>A c.3313C>A c.3414C>A c.3339C>A c.*3657C>A (n.*3657C>A) c.3350C>A (p.Ser1117Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40394901A= | CA2335960900 | PRX | c.3451T= (p.Ser1151=) c.3034T= (p.Ser1012=) c.3736T= (p.Ser1246=) c.3326T= c.3312T= c.3413T= c.3338T= c.*3656T= (n.*3656T=) c.3349T= (p.Ser1117=) | |
| 19 | g.40394901A>C | CA405893634 | PRX | c.3451T>G (p.Ser1151Ala) c.3034T>G (p.Ser1012Ala) c.3736T>G (p.Ser1246Ala) c.3326T>G c.3312T>G c.3413T>G c.3338T>G c.*3656T>G (n.*3656T>G) c.3349T>G (p.Ser1117Ala) | |
| 19 | g.40394901A>G | CA405893636 | PRX | c.3451T>C (p.Ser1151Pro) c.3034T>C (p.Ser1012Pro) c.3736T>C (p.Ser1246Pro) c.3326T>C c.3312T>C c.3413T>C c.3338T>C c.*3656T>C (n.*3656T>C) c.3349T>C (p.Ser1117Pro) | dbSNP |
| 19 | g.40394901A>T | CA405893637 | PRX | c.3451T>A (p.Ser1151Thr) c.3034T>A (p.Ser1012Thr) c.3736T>A (p.Ser1246Thr) c.3326T>A c.3312T>A c.3413T>A c.3338T>A c.*3656T>A (n.*3656T>A) c.3349T>A (p.Ser1117Thr) | |
| 19 | g.40394902G>A | CA507678387 | PRX | c.3450C>T (p.Ile1150=) c.3033C>T (p.Ile1011=) c.3735C>T (p.Ile1245=) c.3325C>T c.3311C>T c.3412C>T c.3337C>T c.*3655C>T (n.*3655C>T) c.3348C>T (p.Ile1116=) | |
| 19 | g.40394902G>C | CA405893640 | PRX | c.3450C>G (p.Ile1150Met) c.3033C>G (p.Ile1011Met) c.3735C>G (p.Ile1245Met) c.3325C>G c.3311C>G c.3412C>G c.3337C>G c.*3655C>G (n.*3655C>G) c.3348C>G (p.Ile1116Met) | |
| 19 | g.40394902G>T | CA507678388 | PRX | c.3450C>A (p.Ile1150=) c.3033C>A (p.Ile1011=) c.3735C>A (p.Ile1245=) c.3325C>A c.3311C>A c.3412C>A c.3337C>A c.*3655C>A (n.*3655C>A) c.3348C>A (p.Ile1116=) | gnomAD v4 |
| 19 | g.40394903A>C | CA405893646 | PRX | c.3449T>G (p.Ile1150Ser) c.3032T>G (p.Ile1011Ser) c.3734T>G (p.Ile1245Ser) c.3324T>G c.3310T>G c.3411T>G c.3336T>G c.*3654T>G (n.*3654T>G) c.3347T>G (p.Ile1116Ser) | |
| 19 | g.40394903A>G | CA405893644 | PRX | c.3449T>C (p.Ile1150Thr) c.3032T>C (p.Ile1011Thr) c.3734T>C (p.Ile1245Thr) c.3324T>C c.3310T>C c.3411T>C c.3336T>C c.*3654T>C (n.*3654T>C) c.3347T>C (p.Ile1116Thr) | |
| 19 | g.40394903A>T | CA405893642 | PRX | c.3449T>A (p.Ile1150Asn) c.3032T>A (p.Ile1011Asn) c.3734T>A (p.Ile1245Asn) c.3324T>A c.3310T>A c.3411T>A c.3336T>A c.*3654T>A (n.*3654T>A) c.3347T>A (p.Ile1116Asn) | |
| 19 | g.40394904T>A | CA405893648 | PRX | c.3448A>T (p.Ile1150Phe) c.3031A>T (p.Ile1011Phe) c.3733A>T (p.Ile1245Phe) c.3323A>T c.3309A>T c.3410A>T c.3335A>T c.*3653A>T (n.*3653A>T) c.3346A>T (p.Ile1116Phe) | |
| 19 | g.40394904T>C | CA405893649 | PRX | c.3448A>G (p.Ile1150Val) c.3031A>G (p.Ile1011Val) c.3733A>G (p.Ile1245Val) c.3323A>G c.3309A>G c.3410A>G c.3335A>G c.*3653A>G (n.*3653A>G) c.3346A>G (p.Ile1116Val) | |
| 19 | g.40394904T>G | CA9443854 | PRX | c.3448A>C (p.Ile1150Leu) c.3031A>C (p.Ile1011Leu) c.3733A>C (p.Ile1245Leu) c.3323A>C c.3309A>C c.3410A>C c.3335A>C c.*3653A>C (n.*3653A>C) c.3346A>C (p.Ile1116Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.40394904T= | CA2335960901 | PRX | c.3448A= (p.Ile1150=) c.3031A= (p.Ile1011=) c.3733A= (p.Ile1245=) c.3323A= c.3309A= c.3410A= c.3335A= c.*3653A= (n.*3653A=) c.3346A= (p.Ile1116=) | |
| 19 | g.40394905G>A | CA507678390 | PRX | c.3447C>T (p.Gly1149=) c.3030C>T (p.Gly1010=) c.3732C>T (p.Gly1244=) c.3322C>T c.3308C>T c.3409C>T c.3334C>T c.*3652C>T (n.*3652C>T) c.3345C>T (p.Gly1115=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.40394905G>C | CA507678391 | PRX | c.3447C>G (p.Gly1149=) c.3030C>G (p.Gly1010=) c.3732C>G (p.Gly1244=) c.3322C>G c.3308C>G c.3409C>G c.3334C>G c.*3652C>G (n.*3652C>G) c.3345C>G (p.Gly1115=) | |
| 19 | g.40394905G= | CA2335960902 | PRX | c.3447C= (p.Gly1149=) c.3030C= (p.Gly1010=) c.3732C= (p.Gly1244=) c.3322C= c.3308C= c.3409C= c.3334C= c.*3652C= (n.*3652C=) c.3345C= (p.Gly1115=) | |
| 19 | g.40394905G>T | CA507678392 | PRX | c.3447C>A (p.Gly1149=) c.3030C>A (p.Gly1010=) c.3732C>A (p.Gly1244=) c.3322C>A c.3308C>A c.3409C>A c.3334C>A c.*3652C>A (n.*3652C>A) c.3345C>A (p.Gly1115=) | |
| 19 | g.40394906C>A | CA405893652 | PRX | c.3446G>T (p.Gly1149Val) c.3029G>T (p.Gly1010Val) c.3731G>T (p.Gly1244Val) c.3321G>T c.3307G>T c.3408G>T c.3333G>T c.*3651G>T (n.*3651G>T) c.3344G>T (p.Gly1115Val) | |
| 19 | g.40394906C>G | CA405893654 | PRX | c.3446G>C (p.Gly1149Ala) c.3029G>C (p.Gly1010Ala) c.3731G>C (p.Gly1244Ala) c.3321G>C c.3307G>C c.3408G>C c.3333G>C c.*3651G>C (n.*3651G>C) c.3344G>C (p.Gly1115Ala) | |
| 19 | g.40394906C>T | CA405893655 | PRX | c.3446G>A (p.Gly1149Asp) c.3029G>A (p.Gly1010Asp) c.3731G>A (p.Gly1244Asp) c.3321G>A c.3307G>A c.3408G>A c.3333G>A c.*3651G>A (n.*3651G>A) c.3344G>A (p.Gly1115Asp) | gnomAD v4 |
| 19 | g.40394907C>A | CA405893658 | PRX | c.3445G>T (p.Gly1149Cys) c.3028G>T (p.Gly1010Cys) c.3730G>T (p.Gly1244Cys) c.3320G>T c.3306G>T c.3407G>T c.3332G>T c.*3650G>T (n.*3650G>T) c.3343G>T (p.Gly1115Cys) | |
| 19 | g.40394907C>G | CA405893660 | PRX | c.3445G>C (p.Gly1149Arg) c.3028G>C (p.Gly1010Arg) c.3730G>C (p.Gly1244Arg) c.3320G>C c.3306G>C c.3407G>C c.3332G>C c.*3650G>C (n.*3650G>C) c.3343G>C (p.Gly1115Arg) | |
| 19 | g.40394907C>T | CA405893661 | PRX | c.3445G>A (p.Gly1149Ser) c.3028G>A (p.Gly1010Ser) c.3730G>A (p.Gly1244Ser) c.3320G>A c.3306G>A c.3407G>A c.3332G>A c.*3650G>A (n.*3650G>A) c.3343G>A (p.Gly1115Ser) | |
| 19 | g.40394907_40394908insACAGGTGGCATCTC | CA2739276799 | PRX | c.3445_3446insAGATGCCACCTGTG (p.Gly1149GlufsTer14) c.3028_3029insAGATGCCACCTGTG (p.Gly1010GlufsTer14) c.3730_3731insAGATGCCACCTGTG (p.Gly1244GlufsTer14) c.3320_3321insAGATGCCACCTGTG c.3306_3307insAGATGCCACCTGTG c.3407_3408insAGATGCCACCTGTG c.3332_3333insAGATGCCACCTGTG c.*3650_*3651insAGATGCCACCTGTG (n.*3650_*3651insAGATGCCACCTGTG) c.3343_3344insAGATGCCACCTGTG (p.Gly1115GlufsTer14) | |
| 19 | g.40394908C>A | CA507678394 | PRX | c.3444G>T (p.Leu1148=) c.3027G>T (p.Leu1009=) c.3729G>T (p.Leu1243=) c.3319G>T c.3305G>T c.3406G>T c.3331G>T c.*3649G>T (n.*3649G>T) c.3342G>T (p.Leu1114=) | |
| 19 | g.40394908C>G | CA507678395 | PRX | c.3444G>C (p.Leu1148=) c.3027G>C (p.Leu1009=) c.3729G>C (p.Leu1243=) c.3319G>C c.3305G>C c.3406G>C c.3331G>C c.*3649G>C (n.*3649G>C) c.3342G>C (p.Leu1114=) | gnomAD v4 |
| 19 | g.40394908C>T | CA507678396 | PRX | c.3444G>A (p.Leu1148=) c.3027G>A (p.Leu1009=) c.3729G>A (p.Leu1243=) c.3319G>A c.3305G>A c.3406G>A c.3331G>A c.*3649G>A (n.*3649G>A) c.3342G>A (p.Leu1114=) | |
| 19 | g.40394909A>C | CA405893663 | PRX | c.3443T>G (p.Leu1148Arg) c.3026T>G (p.Leu1009Arg) c.3728T>G (p.Leu1243Arg) c.3318T>G c.3304T>G c.3405T>G c.3330T>G c.*3648T>G (n.*3648T>G) c.3341T>G (p.Leu1114Arg) | |
| 19 | g.40394909A>G | CA405893664 | PRX | c.3443T>C (p.Leu1148Pro) c.3026T>C (p.Leu1009Pro) c.3728T>C (p.Leu1243Pro) c.3318T>C c.3304T>C c.3405T>C c.3330T>C c.*3648T>C (n.*3648T>C) c.3341T>C (p.Leu1114Pro) | |
| 19 | g.40394909A>T | CA405893666 | PRX | c.3443T>A (p.Leu1148Gln) c.3026T>A (p.Leu1009Gln) c.3728T>A (p.Leu1243Gln) c.3318T>A c.3304T>A c.3405T>A c.3330T>A c.*3648T>A (n.*3648T>A) c.3341T>A (p.Leu1114Gln) | |
| 19 | g.40394910G>A | CA507678397 | PRX | c.3442C>T (p.Leu1148=) c.3025C>T (p.Leu1009=) c.3727C>T (p.Leu1243=) c.3317C>T c.3303C>T c.3404C>T c.3329C>T c.*3647C>T (n.*3647C>T) c.3340C>T (p.Leu1114=) | |
| 19 | g.40394910G>C | CA405893668 | PRX | c.3442C>G (p.Leu1148Val) c.3025C>G (p.Leu1009Val) c.3727C>G (p.Leu1243Val) c.3317C>G c.3303C>G c.3404C>G c.3329C>G c.*3647C>G (n.*3647C>G) c.3340C>G (p.Leu1114Val) | |
| 19 | g.40394910G>T | CA405893670 | PRX | c.3442C>A (p.Leu1148Met) c.3025C>A (p.Leu1009Met) c.3727C>A (p.Leu1243Met) c.3317C>A c.3303C>A c.3404C>A c.3329C>A c.*3647C>A (n.*3647C>A) c.3340C>A (p.Leu1114Met) | gnomAD v4 |
| 19 | g.40394911C>A | CA507678399 | PRX | c.3441G>T (p.Pro1147=) c.3024G>T (p.Pro1008=) c.3726G>T (p.Pro1242=) c.3316G>T c.3302G>T c.3403G>T c.3328G>T c.*3646G>T (n.*3646G>T) c.3339G>T (p.Pro1113=) | gnomAD v4 |
| 19 | g.40394911C= | CA2335960903 | PRX | c.3441G= (p.Pro1147=) c.3024G= (p.Pro1008=) c.3726G= (p.Pro1242=) c.3316G= c.3302G= c.3403G= c.3328G= c.*3646G= (n.*3646G=) c.3339G= (p.Pro1113=) | |
| 19 | g.40394911C>G | CA507678400 | PRX | c.3441G>C (p.Pro1147=) c.3024G>C (p.Pro1008=) c.3726G>C (p.Pro1242=) c.3316G>C c.3302G>C c.3403G>C c.3328G>C c.*3646G>C (n.*3646G>C) c.3339G>C (p.Pro1113=) | |
| 19 | g.40394911C>T | CA9443855 | PRX | c.3441G>A (p.Pro1147=) c.3024G>A (p.Pro1008=) c.3726G>A (p.Pro1242=) c.3316G>A c.3302G>A c.3403G>A c.3328G>A c.*3646G>A (n.*3646G>A) c.3339G>A (p.Pro1113=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40394912G>A | CA9443856 | PRX | c.3440C>T (p.Pro1147Leu) c.3023C>T (p.Pro1008Leu) c.3725C>T (p.Pro1242Leu) c.3315C>T c.3301C>T c.3402C>T c.3327C>T c.*3645C>T (n.*3645C>T) c.3338C>T (p.Pro1113Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40394912G>C | CA405893674 | PRX | c.3440C>G (p.Pro1147Arg) c.3023C>G (p.Pro1008Arg) c.3725C>G (p.Pro1242Arg) c.3315C>G c.3301C>G c.3402C>G c.3327C>G c.*3645C>G (n.*3645C>G) c.3338C>G (p.Pro1113Arg) | |
| 19 | g.40394912G= | CA2335960904 | PRX | c.3440C= (p.Pro1147=) c.3023C= (p.Pro1008=) c.3725C= (p.Pro1242=) c.3315C= c.3301C= c.3402C= c.3327C= c.*3645C= (n.*3645C=) c.3338C= (p.Pro1113=) | |
| 19 | g.40394912G>T | CA405893676 | PRX | c.3440C>A (p.Pro1147Gln) c.3023C>A (p.Pro1008Gln) c.3725C>A (p.Pro1242Gln) c.3315C>A c.3301C>A c.3402C>A c.3327C>A c.*3645C>A (n.*3645C>A) c.3338C>A (p.Pro1113Gln) | gnomAD v4 |
| 19 | g.40394913G>A | CA9443857 | PRX | c.3439C>T (p.Pro1147Ser) c.3022C>T (p.Pro1008Ser) c.3724C>T (p.Pro1242Ser) c.3314C>T c.3300C>T c.3401C>T c.3326C>T c.*3644C>T (n.*3644C>T) c.3337C>T (p.Pro1113Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40394913G>C | CA405893679 | PRX | c.3439C>G (p.Pro1147Ala) c.3022C>G (p.Pro1008Ala) c.3724C>G (p.Pro1242Ala) c.3314C>G c.3300C>G c.3401C>G c.3326C>G c.*3644C>G (n.*3644C>G) c.3337C>G (p.Pro1113Ala) | |
| 19 | g.40394913G= | CA2335960905 | PRX | c.3439C= (p.Pro1147=) c.3022C= (p.Pro1008=) c.3724C= (p.Pro1242=) c.3314C= c.3300C= c.3401C= c.3326C= c.*3644C= (n.*3644C=) c.3337C= (p.Pro1113=) | |
| 19 | g.40394913G>T | CA405893680 | PRX | c.3439C>A (p.Pro1147Thr) c.3022C>A (p.Pro1008Thr) c.3724C>A (p.Pro1242Thr) c.3314C>A c.3300C>A c.3401C>A c.3326C>A c.*3644C>A (n.*3644C>A) c.3337C>A (p.Pro1113Thr) | gnomAD v4 |
| 19 | g.40394914A>C | CA507678403 | PRX | c.3438T>G (p.Pro1146=) c.3021T>G (p.Pro1007=) c.3723T>G (p.Pro1241=) c.3313T>G c.3299T>G c.3400T>G c.3325T>G c.*3643T>G (n.*3643T>G) c.3336T>G (p.Pro1112=) | |
| 19 | g.40394914A>G | CA507678404 | PRX | c.3438T>C (p.Pro1146=) c.3021T>C (p.Pro1007=) c.3723T>C (p.Pro1241=) c.3313T>C c.3299T>C c.3400T>C c.3325T>C c.*3643T>C (n.*3643T>C) c.3336T>C (p.Pro1112=) | |
| 19 | g.40394914A>T | CA507678405 | PRX | c.3438T>A (p.Pro1146=) c.3021T>A (p.Pro1007=) c.3723T>A (p.Pro1241=) c.3313T>A c.3299T>A c.3400T>A c.3325T>A c.*3643T>A (n.*3643T>A) c.3336T>A (p.Pro1112=) | |
| 19 | g.40394915G>A | CA405893683 | PRX | c.3437C>T (p.Pro1146Leu) c.3020C>T (p.Pro1007Leu) c.3722C>T (p.Pro1241Leu) c.3312C>T c.3298C>T c.3399C>T c.3324C>T c.*3642C>T (n.*3642C>T) c.3335C>T (p.Pro1112Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40394915G>C | CA405893685 | PRX | c.3437C>G (p.Pro1146Arg) c.3020C>G (p.Pro1007Arg) c.3722C>G (p.Pro1241Arg) c.3312C>G c.3298C>G c.3399C>G c.3324C>G c.*3642C>G (n.*3642C>G) c.3335C>G (p.Pro1112Arg) | |
| 19 | g.40394915G= | CA2335960906 | PRX | c.3437C= (p.Pro1146=) c.3020C= (p.Pro1007=) c.3722C= (p.Pro1241=) c.3312C= c.3298C= c.3399C= c.3324C= c.*3642C= (n.*3642C=) c.3335C= (p.Pro1112=) | |
| 19 | g.40394915G>T | CA405893686 | PRX | c.3437C>A (p.Pro1146His) c.3020C>A (p.Pro1007His) c.3722C>A (p.Pro1241His) c.3312C>A c.3298C>A c.3399C>A c.3324C>A c.*3642C>A (n.*3642C>A) c.3335C>A (p.Pro1112His) | COSMIC |
| 19 | g.40394916G>A | CA405893688 | PRX | c.3436C>T (p.Pro1146Ser) c.3019C>T (p.Pro1007Ser) c.3721C>T (p.Pro1241Ser) c.3311C>T c.3297C>T c.3398C>T c.3323C>T c.*3641C>T (n.*3641C>T) c.3334C>T (p.Pro1112Ser) | gnomAD v4 |
| 19 | g.40394916G>C | CA405893690 | PRX | c.3436C>G (p.Pro1146Ala) c.3019C>G (p.Pro1007Ala) c.3721C>G (p.Pro1241Ala) c.3311C>G c.3297C>G c.3398C>G c.3323C>G c.*3641C>G (n.*3641C>G) c.3334C>G (p.Pro1112Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40394916G= | CA2335960907 | PRX | c.3436C= (p.Pro1146=) c.3019C= (p.Pro1007=) c.3721C= (p.Pro1241=) c.3311C= c.3297C= c.3398C= c.3323C= c.*3641C= (n.*3641C=) c.3334C= (p.Pro1112=) | |
| 19 | g.40394916G>T | CA405893691 | PRX | c.3436C>A (p.Pro1146Thr) c.3019C>A (p.Pro1007Thr) c.3721C>A (p.Pro1241Thr) c.3311C>A c.3297C>A c.3398C>A c.3323C>A c.*3641C>A (n.*3641C>A) c.3334C>A (p.Pro1112Thr) | gnomAD v4 |
| 19 | g.40394917C>A | CA405893702 | PRX | c.3435G>T (p.Met1145Ile) c.3018G>T (p.Met1006Ile) c.3720G>T (p.Met1240Ile) c.3310G>T c.3296G>T c.3397G>T c.3322G>T c.*3640G>T (n.*3640G>T) c.3333G>T (p.Met1111Ile) | gnomAD v4 |
| 19 | g.40394917C= | CA2335960908 | PRX | c.3435G= (p.Met1145=) c.3018G= (p.Met1006=) c.3720G= (p.Met1240=) c.3310G= c.3296G= c.3397G= c.3322G= c.*3640G= (n.*3640G=) c.3333G= (p.Met1111=) | |
| 19 | g.40394917C>G | CA405893700 | PRX | c.3435G>C (p.Met1145Ile) c.3018G>C (p.Met1006Ile) c.3720G>C (p.Met1240Ile) c.3310G>C c.3296G>C c.3397G>C c.3322G>C c.*3640G>C (n.*3640G>C) c.3333G>C (p.Met1111Ile) | |
| 19 | g.40394917C>T | CA405893697 | PRX | c.3435G>A (p.Met1145Ile) c.3018G>A (p.Met1006Ile) c.3720G>A (p.Met1240Ile) c.3310G>A c.3296G>A c.3397G>A c.3322G>A c.*3640G>A (n.*3640G>A) c.3333G>A (p.Met1111Ile) | ClinVar dbSNP gnomAD v4 |
| 19 | g.40394918A>C | CA405893707 | PRX | c.3434T>G (p.Met1145Arg) c.3017T>G (p.Met1006Arg) c.3719T>G (p.Met1240Arg) c.3309T>G c.3295T>G c.3396T>G c.3321T>G c.*3639T>G (n.*3639T>G) c.3332T>G (p.Met1111Arg) | |
| 19 | g.40394918A>G | CA405893712 | PRX | c.3434T>C (p.Met1145Thr) c.3017T>C (p.Met1006Thr) c.3719T>C (p.Met1240Thr) c.3309T>C c.3295T>C c.3396T>C c.3321T>C c.*3639T>C (n.*3639T>C) c.3332T>C (p.Met1111Thr) | |
| 19 | g.40394918A>T | CA405893710 | PRX | c.3434T>A (p.Met1145Lys) c.3017T>A (p.Met1006Lys) c.3719T>A (p.Met1240Lys) c.3309T>A c.3295T>A c.3396T>A c.3321T>A c.*3639T>A (n.*3639T>A) c.3332T>A (p.Met1111Lys) | |
| 19 | g.40394919T>A | CA405893715 | PRX | c.3433A>T (p.Met1145Leu) c.3016A>T (p.Met1006Leu) c.3718A>T (p.Met1240Leu) c.3308A>T c.3294A>T c.3395A>T c.3320A>T c.*3638A>T (n.*3638A>T) c.3331A>T (p.Met1111Leu) | |
| 19 | g.40394919T>C | CA405893718 | PRX | c.3433A>G (p.Met1145Val) c.3016A>G (p.Met1006Val) c.3718A>G (p.Met1240Val) c.3308A>G c.3294A>G c.3395A>G c.3320A>G c.*3638A>G (n.*3638A>G) c.3331A>G (p.Met1111Val) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40394919T>G | CA405893721 | PRX | c.3433A>C (p.Met1145Leu) c.3016A>C (p.Met1006Leu) c.3718A>C (p.Met1240Leu) c.3308A>C c.3294A>C c.3395A>C c.3320A>C c.*3638A>C (n.*3638A>C) c.3331A>C (p.Met1111Leu) | |
| 19 | g.40394919T= | CA2335960909 | PRX | c.3433A= (p.Met1145=) c.3016A= (p.Met1006=) c.3718A= (p.Met1240=) c.3308A= c.3294A= c.3395A= c.3320A= c.*3638A= (n.*3638A=) c.3331A= (p.Met1111=) | |
| 19 | g.40394920C>A | CA405893724 | PRX | c.3432G>T (p.Arg1144Ser) c.3015G>T (p.Arg1005Ser) c.3717G>T (p.Arg1239Ser) c.3307G>T c.3293G>T c.3394G>T c.3319G>T c.*3637G>T (n.*3637G>T) c.3330G>T (p.Arg1110Ser) | |
| 19 | g.40394920C= | CA2335960910 | PRX | c.3432G= (p.Arg1144=) c.3015G= (p.Arg1005=) c.3717G= (p.Arg1239=) c.3307G= c.3293G= c.3394G= c.3319G= c.*3637G= (n.*3637G=) c.3330G= (p.Arg1110=) | |
| 19 | g.40394920C>G | CA405893728 | PRX | c.3432G>C (p.Arg1144Ser) c.3015G>C (p.Arg1005Ser) c.3717G>C (p.Arg1239Ser) c.3307G>C c.3293G>C c.3394G>C c.3319G>C c.*3637G>C (n.*3637G>C) c.3330G>C (p.Arg1110Ser) | |
| 19 | g.40394920C>T | CA507678417 | PRX | c.3432G>A (p.Arg1144=) c.3015G>A (p.Arg1005=) c.3717G>A (p.Arg1239=) c.3307G>A c.3293G>A c.3394G>A c.3319G>A c.*3637G>A (n.*3637G>A) c.3330G>A (p.Arg1110=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40394921C>A | CA405893731 | PRX | c.3431G>T (p.Arg1144Met) c.3014G>T (p.Arg1005Met) c.3716G>T (p.Arg1239Met) c.3306G>T c.3292G>T c.3393G>T c.3318G>T c.*3636G>T (n.*3636G>T) c.3329G>T (p.Arg1110Met) | |
| 19 | g.40394921C= | CA2335960911 | PRX | c.3431G= (p.Arg1144=) c.3014G= (p.Arg1005=) c.3716G= (p.Arg1239=) c.3306G= c.3292G= c.3393G= c.3318G= c.*3636G= (n.*3636G=) c.3329G= (p.Arg1110=) | |
| 19 | g.40394921C>G | CA405893733 | PRX | c.3431G>C (p.Arg1144Thr) c.3014G>C (p.Arg1005Thr) c.3716G>C (p.Arg1239Thr) c.3306G>C c.3292G>C c.3393G>C c.3318G>C c.*3636G>C (n.*3636G>C) c.3329G>C (p.Arg1110Thr) | |
| 19 | g.40394921C>T | CA405893736 | PRX | c.3431G>A (p.Arg1144Lys) c.3014G>A (p.Arg1005Lys) c.3716G>A (p.Arg1239Lys) c.3306G>A c.3292G>A c.3393G>A c.3318G>A c.*3636G>A (n.*3636G>A) c.3329G>A (p.Arg1110Lys) | dbSNP gnomAD v4 |