Autonomic ganglia | P2467R | Missense
| 2 |
Breast | Q2054E | Missense
| 2 |
Haematopoietic and lymphoid tissue | K3889Q | Missense
| 2 |
Large intestine | G3438D | Missense
| 2 |
Lung | P3082L | Missense
| 2 |
Lung | Q2176* | Nonsense
| 2 |
Urinary tract | A1691T | Missense
| 2 |
Bone | P4726S | Missense
| 1 |
Breast | C385Y | Missense
| 1 |
Breast | D553N | Missense
| 1 |
Breast | E1240* | Nonsense
| 1 |
Breast | E3716K | Missense
| 1 |
Breast | G892E | Missense
| 1 |
Breast | H4512N | Missense
| 1 |
Breast | L504P | Missense
| 1 |
Breast | Q3464L | Missense
| 1 |
Central nervous system | G892E | Missense
| 1 |
Central nervous system | I2391V | Missense
| 1 |
Central nervous system | P2051R | Missense
| 1 |
Central nervous system | R3398Q | Missense
| 1 |
Central nervous system | V3437L | Missense
| 1 |
Endometrium | D3457N | Missense
| 1 |
Endometrium | E300D | Missense
| 1 |
Endometrium | E4515* | Nonsense
| 1 |
Endometrium | E4531D | Missense
| 1 |
Endometrium | E665* | Nonsense
| 1 |
Endometrium | E937D | Missense
| 1 |
Endometrium | G908S | Missense
| 1 |
Endometrium | G917V | Missense
| 1 |
Endometrium | K1680T | Missense
| 1 |
Endometrium | K3604N | Missense
| 1 |
Endometrium | K3714R | Missense
| 1 |
Endometrium | K3889Q | Missense
| 1 |
Endometrium | L4206I | Missense
| 1 |
Endometrium | M1819I | Missense
| 1 |
Endometrium | N2980S | Missense
| 1 |
Endometrium | P4504L | Missense
| 1 |
Endometrium | R2139Q | Missense
| 1 |
Endometrium | R2610* | Nonsense
| 1 |
Endometrium | R3400H | Missense
| 1 |
Endometrium | R4725M | Missense
| 1 |
Endometrium | R4777Q | Missense
| 1 |
Endometrium | R973I | Missense
| 1 |
Endometrium | S4760L | Missense
| 1 |
Endometrium | S4872F | Missense
| 1 |
Endometrium | T4838M | Missense
| 1 |
Endometrium | V4463I | Missense
| 1 |
Endometrium | Y4657H | Missense
| 1 |
Haematopoietic and lymphoid tissue | C4855W | Missense
| 1 |
Haematopoietic and lymphoid tissue | E2626* | Nonsense
| 1 |
Haematopoietic and lymphoid tissue | E3384G | Missense
| 1 |
Haematopoietic and lymphoid tissue | F4170I | Missense
| 1 |
Haematopoietic and lymphoid tissue | G2568V | Missense
| 1 |
Haematopoietic and lymphoid tissue | L601V | Missense
| 1 |
Haematopoietic and lymphoid tissue | N1116Y | Missense
| 1 |
Haematopoietic and lymphoid tissue | P2012L | Missense
| 1 |
Haematopoietic and lymphoid tissue | P2493L | Missense
| 1 |
Haematopoietic and lymphoid tissue | P3082L | Missense
| 1 |
Haematopoietic and lymphoid tissue | Q3016H | Missense
| 1 |
Haematopoietic and lymphoid tissue | Q4140* | Nonsense
| 1 |
Haematopoietic and lymphoid tissue | R1058T | Missense
| 1 |
Haematopoietic and lymphoid tissue | R1229M | Missense
| 1 |
Haematopoietic and lymphoid tissue | R4595C | Missense
| 1 |
Haematopoietic and lymphoid tissue | S925F | Missense
| 1 |
Kidney | A3902G | Missense
| 1 |
Kidney | C3460F | Missense
| 1 |
Kidney | G2986D | Missense
| 1 |
Kidney | G892E | Missense
| 1 |
Large intestine | A1065T | Missense
| 1 |
Large intestine | C1013R | Missense
| 1 |
Large intestine | C139R | Missense
| 1 |
Large intestine | D4545G | Missense
| 1 |
Large intestine | E1313K | Missense
| 1 |
Large intestine | E3430L | Missense
| 1 |
Large intestine | E725K | Missense
| 1 |
Large intestine | F3385L | Missense
| 1 |
Large intestine | G1584R | Missense
| 1 |
Large intestine | G2579D | Missense
| 1 |
Large intestine | G2636C | Missense
| 1 |
Large intestine | G4457D | Missense
| 1 |
Large intestine | G4607V | Missense
| 1 |
Large intestine | I4868F | Missense
| 1 |
Large intestine | K3852E | Missense
| 1 |
Large intestine | K832E | Missense
| 1 |
Large intestine | M2522I | Missense
| 1 |
Large intestine | P2050L | Missense
| 1 |
Large intestine | P2415S | Missense
| 1 |
Large intestine | P2944L | Missense
| 1 |
Large intestine | P3082L | Missense
| 1 |
Large intestine | P4306L | Missense
| 1 |
Large intestine | P860S | Missense
| 1 |
Large intestine | Q3056E | Missense
| 1 |
Large intestine | Q384* | Nonsense
| 1 |
Large intestine | Q419R | Missense
| 1 |
Large intestine | R1137* | Nonsense
| 1 |
Large intestine | R2609* | Nonsense
| 1 |
Large intestine | R3252S | Missense
| 1 |
Large intestine | R3405* | Nonsense
| 1 |
Large intestine | R3853W | Missense
| 1 |
Large intestine | R3995* | Nonsense
| 1 |
Large intestine | R4544W | Missense
| 1 |
Large intestine | R526C | Missense
| 1 |
Large intestine | S1416L | Missense
| 1 |
Large intestine | S1630L | Missense
| 1 |
Large intestine | S3880Y | Missense
| 1 |
Large intestine | S3903F | Missense
| 1 |
Large intestine | T1465I | Missense
| 1 |
Large intestine | T1904A | Missense
| 1 |
Large intestine | T2605R | Missense
| 1 |
Large intestine | T693A | Missense
| 1 |
Large intestine | W449R | Missense
| 1 |
Large intestine | W491R | Missense
| 1 |
Liver | L3234F | Missense
| 1 |
Liver | Y4246C | Missense
| 1 |
Lung | A117V | Missense
| 1 |
Lung | A334V | Missense
| 1 |
Lung | A829D | Missense
| 1 |
Lung | D1128N | Missense
| 1 |
Lung | D1451Y | Missense
| 1 |
Lung | D3386Y | Missense
| 1 |
Lung | D597H | Missense
| 1 |
Lung | E1940V | Missense
| 1 |
Lung | E3406K | Missense
| 1 |
Lung | E3724K | Missense
| 1 |
Lung | F324L | Missense
| 1 |
Lung | G313* | Nonsense
| 1 |
Lung | G905A | Missense
| 1 |
Lung | G906C | Missense
| 1 |
Lung | I3092V | Missense
| 1 |
Lung | K4573E | Missense
| 1 |
Lung | L2922R | Missense
| 1 |
Lung | L354* | Nonsense
| 1 |
Lung | L4287F | Missense
| 1 |
Lung | P4033L | Missense
| 1 |
Lung | Q3016H | Missense
| 1 |
Lung | R3125W | Missense
| 1 |
Lung | R909M | Missense
| 1 |
Lung | S3394R | Missense
| 1 |
Lung | S848N | Missense
| 1 |
Lung | S888T | Missense
| 1 |
Lung | V2216F | Missense
| 1 |
Lung | V4115F | Missense
| 1 |
Lung | V4703F | Missense
| 1 |
Oesophagus | D1405Y | Missense
| 1 |
Oesophagus | D2843Y | Missense
| 1 |
Oesophagus | I3096V | Missense
| 1 |
Ovary | A221D | Missense
| 1 |
Ovary | A4192T | Missense
| 1 |
Ovary | C4432Y | Missense
| 1 |
Ovary | I823T | Missense
| 1 |
Ovary | L4126* | Nonsense
| 1 |
Ovary | L4575F | Missense
| 1 |
Ovary | R4529H | Missense
| 1 |
Ovary | R4690Q | Missense
| 1 |
Pancreas | G3770R | Missense
| 1 |
Pancreas | K170E | Missense
| 1 |
Pancreas | Q1072* | Nonsense
| 1 |
Pancreas | Q2997* | Nonsense
| 1 |
Pancreas | T831A | Missense
| 1 |
Prostate | A4065V | Missense
| 1 |
Prostate | H703Y | Missense
| 1 |
Prostate | L4142S | Missense
| 1 |
Prostate | M546T | Missense
| 1 |
Prostate | R4763Q | Missense
| 1 |
Prostate | S1790F | Missense
| 1 |
Prostate | T3156A | Missense
| 1 |
Salivary gland | Q1218* | Nonsense
| 1 |
Skin | E4319K | Missense
| 1 |
Skin | G4186C | Missense
| 1 |
Skin | G917R | Missense
| 1 |
Skin | I776K | Missense
| 1 |
Skin | I862L | Missense
| 1 |
Skin | K2009* | Nonsense
| 1 |
Skin | L3469F | Missense
| 1 |
Skin | N543D | Missense
| 1 |
Skin | P1669R | Missense
| 1 |
Skin | Q3792* | Nonsense
| 1 |
Soft tissue | R2307G | Missense
| 1 |
Soft tissue | R3217H | Missense
| 1 |
Stomach | F153V | Missense
| 1 |
Stomach | G915L | Missense
| 1 |
Stomach | P1838S | Missense
| 1 |
Thyroid | Q2177* | Nonsense
| 1 |
Thyroid | R1861Q | Missense
| 1 |
Upper aerodigestive tract | A4903A | Silent
| 1 |
Upper aerodigestive tract | E510Q | Missense
| 1 |
Upper aerodigestive tract | G4186D | Missense
| 1 |
Urinary tract | D1497H | Missense
| 1 |
Urinary tract | G1517R | Missense
| 1 |
Urinary tract | R1351M | Missense
| 1 |
Urinary tract | R2028* | Nonsense
| 1 |